PDB chain PDB_start_pos gene_name Swiss_Prot_(SP)_name SP_AC_ID SP_FTId wt SP_variant_pos sub variant_class PDB_variant_pos 2CBZ A 642 ABCC1 MRP1_HUMAN P33527 VAR_011489 G 671 V Unclassified 671 2CBZ A 642 ABCC1 MRP1_HUMAN P33527 VAR_013321 R 723 Q Polymorphism 723 1EGC A 10 ACADM ACADM_HUMAN P11310 VAR_013698 Y 67 H Disease 42 1EGC A 10 ACADM ACADM_HUMAN P11310 VAR_015954 I 78 T Disease 53 1EGC A 10 ACADM ACADM_HUMAN P11310 VAR_015955 C 116 Y Disease 91 1EGC A 10 ACADM ACADM_HUMAN P11310 VAR_015956 T 121 I Disease 96 1EGC A 10 ACADM ACADM_HUMAN P11310 VAR_000319 M 149 I Disease 124 1EGC A 10 ACADM ACADM_HUMAN P11310 VAR_000320 T 193 A Disease 168 1EGC A 10 ACADM ACADM_HUMAN P11310 VAR_000321 G 195 R Disease 170 1EGC A 10 ACADM ACADM_HUMAN P11310 VAR_015957 R 206 L Disease 181 1EGC A 10 ACADM ACADM_HUMAN P11310 VAR_000322 C 244 R Disease 219 1EGC A 10 ACADM ACADM_HUMAN P11310 VAR_013699 S 245 L Disease 220 1EGC A 10 ACADM ACADM_HUMAN P11310 VAR_015958 G 310 R Disease 285 1EGC A 10 ACADM ACADM_HUMAN P11310 VAR_000324 M 326 T Disease 301 1EGC A 10 ACADM ACADM_HUMAN P11310 VAR_000325 K 329 E Disease 304 1EGC A 10 ACADM ACADM_HUMAN P11310 VAR_000326 S 336 R Disease 311 1EGC A 10 ACADM ACADM_HUMAN P11310 VAR_015959 Y 352 C Disease 327 1EGC A 10 ACADM ACADM_HUMAN P11310 VAR_000327 I 375 T Disease 350 1XWW A 1 ACP1 PPAC_HUMAN P24666 VAR_006171 Q 106 R Polymorphism 105 1DEH A 1 ADH1B ADH1B_HUMAN P00325 VAR_000426 R 48 H Polymorphism 47 1DEH A 1 ADH1B ADH1B_HUMAN P00325 VAR_019322 N 57 K Polymorphism 56 1DEH A 1 ADH1B ADH1B_HUMAN P00325 VAR_019323 T 60 S Polymorphism 59 1DEH A 1 ADH1B ADH1B_HUMAN P00325 VAR_000427 R 370 C Polymorphism 369 1HT0 A 1 ADH1C ADH1G_HUMAN P00326 VAR_023992 R 48 H Polymorphism 47 1HT0 A 1 ADH1C ADH1G_HUMAN P00326 VAR_023993 P 166 S Polymorphism 165 1M6H A 1 ADH5 ADHX_HUMAN P11766 VAR_025823 L 163 S Polymorphism 162 1M6H A 1 ADH5 ADHX_HUMAN P11766 VAR_025824 V 309 I Polymorphism 308 1APY A 2 AGA ASPG_HUMAN P20933 VAR_005069 G 60 D Disease 37 1APY A 2 AGA ASPG_HUMAN P20933 VAR_005070 S 72 P Disease 49 1APY A 2 AGA ASPG_HUMAN P20933 VAR_015428 G 100 E Disease 77 1APY A 2 AGA ASPG_HUMAN P20933 VAR_005071 A 101 V Disease 78 1APY A 2 AGA ASPG_HUMAN P20933 VAR_015429 F 135 S Disease 112 1APY A 2 AGA ASPG_HUMAN P20933 VAR_005072 R 161 Q Disease 138 1APY A 2 AGA ASPG_HUMAN P20933 VAR_005073 C 163 S Disease 140 1LI4 A 3 AHCY SAHH_HUMAN P23526 VAR_006934 D 86 N Polymorphism 86 1ADS @ 1 AKR1B1 ALDR_HUMAN P15121 VAR_014744 H 42 L Polymorphism 41 1ADS @ 1 AKR1B1 ALDR_HUMAN P15121 VAR_014745 L 73 V Polymorphism 72 1ADS @ 1 AKR1B1 ALDR_HUMAN P15121 VAR_014746 G 204 S Polymorphism 203 1ADS @ 1 AKR1B1 ALDR_HUMAN P15121 VAR_014747 T 288 I Polymorphism 287 1IHI A 3 AKR1C2 AK1C2_HUMAN P52895 VAR_014748 L 172 Q Polymorphism 172 1RY0 A 5 AKR1C3 AK1C3_HUMAN P42330 VAR_013289 M 175 I Unclassified 175 2CLP A 38 AKR7A3 ARK73_HUMAN O95154 VAR_017416 V 138 M Polymorphism 167 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_010657 F 73 Y Polymorphism 49 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000507 E 84 K Unclassified 60 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000508 D 87 N Unclassified 63 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_013011 L 90 P Disease 66 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_014290 E 121 G Polymorphism 97 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000510 R 138 G Unclassified 114 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000511 E 143 K Unclassified 119 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_013012 V 146 E Unclassified 122 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000512 H 152 R Unclassified 128 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000513 C 201 F Unclassified 177 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_014291 A 215 T Polymorphism 191 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_014292 A 215 V Polymorphism 191 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_014293 Q 220 L Polymorphism 196 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000514 R 242 H Disease 218 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_013013 R 242 P Disease 218 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000515 K 249 Q Unclassified 225 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000516 K 264 E Unclassified 240 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000517 Q 292 R Unclassified 268 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000518 D 293 G Unclassified 269 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000519 K 300 N Unclassified 276 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000520 K 337 N Unclassified 313 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_013014 D 338 G Unclassified 314 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_013015 D 338 V Unclassified 314 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000521 N 342 K Unclassified 318 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000522 A 344 T Unclassified 320 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000523 E 345 K Unclassified 321 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000524 E 357 K Unclassified 333 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000525 E 378 K Unclassified 354 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000526 E 382 K Unclassified 358 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_013016 K 383 N Unclassified 359 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000527 D 389 H Unclassified 365 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000528 D 389 V Unclassified 365 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000529 K 396 E Unclassified 372 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000530 D 399 N Unclassified 375 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000531 E 400 K Unclassified 376 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000532 E 400 Q Unclassified 376 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000533 E 406 K Unclassified 382 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_014294 E 420 K Polymorphism 396 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_013017 R 434 C Unclassified 410 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_014295 K 490 E Polymorphism 466 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000534 E 503 K Unclassified 479 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000535 D 518 N Unclassified 494 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000536 E 525 K Unclassified 501 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000537 E 529 K Unclassified 505 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_013018 V 557 M Unclassified 533 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000538 K 560 E Unclassified 536 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000539 K 565 E Unclassified 541 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000541 D 574 A Unclassified 550 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_000540 D 574 G Unclassified 550 1AO6 A 5 ALB ALBU_HUMAN P02768 VAR_013019 K 584 E Unclassified 560 1CW3 A 7 ALDH2 ALDH2_HUMAN P05091 VAR_011869 E 337 V Polymorphism 320 1CW3 A 7 ALDH2 ALDH2_HUMAN P05091 VAR_011302 E 496 K Polymorphism 479 1CW3 A 7 ALDH2 ALDH2_HUMAN P05091 VAR_002248 E 504 K Polymorphism 487 1ALD @ 1 ALDOA ALDOA_HUMAN P04075 VAR_000550 D 129 G Disease 128 1QO5 A 1 ALDOB ALDOB_HUMAN P05062 VAR_020822 I 74 T Disease 73 1QO5 A 1 ALDOB ALDOB_HUMAN P05062 VAR_000551 C 135 R Disease 134 1QO5 A 1 ALDOB ALDOB_HUMAN P05062 VAR_000552 W 148 R Unclassified 147 1QO5 A 1 ALDOB ALDOB_HUMAN P05062 VAR_000553 A 150 P Disease 149 1QO5 A 1 ALDOB ALDOB_HUMAN P05062 VAR_000554 A 175 D Disease 174 1QO5 A 1 ALDOB ALDOB_HUMAN P05062 VAR_020824 P 185 R Disease 184 1QO5 A 1 ALDOB ALDOB_HUMAN P05062 VAR_020825 E 207 Q Polymorphism 206 1QO5 A 1 ALDOB ALDOB_HUMAN P05062 VAR_020826 V 222 F Disease 221 1QO5 A 1 ALDOB ALDOB_HUMAN P05062 VAR_020827 L 229 P Disease 228 1QO5 A 1 ALDOB ALDOB_HUMAN P05062 VAR_000555 L 257 P Disease 256 1QO5 A 1 ALDOB ALDOB_HUMAN P05062 VAR_020828 R 304 Q Disease 303 1QO5 A 1 ALDOB ALDOB_HUMAN P05062 VAR_000556 R 304 W Disease 303 1QO5 A 1 ALDOB ALDOB_HUMAN P05062 VAR_000557 N 335 K Disease 334 1QO5 A 1 ALDOB ALDOB_HUMAN P05062 VAR_000558 A 338 V Disease 337 1WSR A 4 AMT GCST_HUMAN P48728 VAR_016847 N 145 I Disease 117 1WSR A 4 AMT GCST_HUMAN P48728 VAR_016848 E 211 K Disease 183 1WSR A 4 AMT GCST_HUMAN P48728 VAR_007953 G 269 D Disease 241 1WSR A 4 AMT GCST_HUMAN P48728 VAR_007954 D 276 H Disease 248 1WSR A 4 AMT GCST_HUMAN P48728 VAR_007955 R 320 H Disease 292 1JHJ A 2 ANAPC10 APC10_HUMAN Q9UM13 VAR_025200 R 46 Q Polymorphism 46 1SHT X 41 ANTXR2 ANTR2_HUMAN P58335 VAR_022688 G 105 D Disease 105 1SHT X 41 ANTXR2 ANTR2_HUMAN P58335 VAR_022689 I 189 T Disease 189 1W7B A 21 ANXA2 ANXA2_HUMAN P07355 VAR_012982 V 98 L Polymorphism 98 1AII @ 3 ANXA3 ANXA3_HUMAN P12429 VAR_013915 I 219 N Polymorphism 220 1AII @ 3 ANXA3 ANXA3_HUMAN P12429 VAR_013916 P 251 L Polymorphism 252 1AII @ 3 ANXA3 ANXA3_HUMAN P12429 VAR_013917 F 291 S Polymorphism 292 1GYK A 1 APCS SAMP_HUMAN P02743 VAR_006054 E 155 G Polymorphism 136 1GYK A 1 APCS SAMP_HUMAN P02743 VAR_006055 S 158 G Polymorphism 139 1BIX @ 44 APEX1 APEX1_HUMAN P27695 VAR_014823 I 64 V Polymorphism 64 1BIX @ 44 APEX1 APEX1_HUMAN P27695 VAR_019790 D 148 E Polymorphism 148 1AV1 A 43 APOA1 APOA1_HUMAN P02647 VAR_017017 T 92 I Polymorphism 68 1AV1 A 43 APOA1 APOA1_HUMAN P02647 VAR_000611 D 113 E Polymorphism 89 1AV1 A 43 APOA1 APOA1_HUMAN P02647 VAR_000612 A 119 D Unclassified 95 1AV1 A 43 APOA1 APOA1_HUMAN P02647 VAR_016189 D 126 H Polymorphism 102 1AV1 A 43 APOA1 APOA1_HUMAN P02647 VAR_000613 D 127 N Unclassified 103 1AV1 A 43 APOA1 APOA1_HUMAN P02647 VAR_000615 K 131 M Polymorphism 107 1AV1 A 43 APOA1 APOA1_HUMAN P02647 VAR_000616 W 132 R Unclassified 108 1AV1 A 43 APOA1 APOA1_HUMAN P02647 VAR_000617 E 134 K Unclassified 110 1AV1 A 43 APOA1 APOA1_HUMAN P02647 VAR_000618 E 160 K Unclassified 136 1AV1 A 43 APOA1 APOA1_HUMAN P02647 VAR_000619 E 163 G Polymorphism 139 1AV1 A 43 APOA1 APOA1_HUMAN P02647 VAR_000620 P 167 R Unclassified 143 1AV1 A 43 APOA1 APOA1_HUMAN P02647 VAR_000621 L 168 R Unclassified 144 1AV1 A 43 APOA1 APOA1_HUMAN P02647 VAR_000622 E 171 V Polymorphism 147 1AV1 A 43 APOA1 APOA1_HUMAN P02647 VAR_021362 V 180 E Unclassified 156 1AV1 A 43 APOA1 APOA1_HUMAN P02647 VAR_014609 R 184 P Polymorphism 160 1AV1 A 43 APOA1 APOA1_HUMAN P02647 VAR_000623 P 189 R Polymorphism 165 1AV1 A 43 APOA1 APOA1_HUMAN P02647 VAR_000624 R 197 C Unclassified 173 1AV1 A 43 APOA1 APOA1_HUMAN P02647 VAR_000625 E 222 K Unclassified 198 1BZ4 A 22 APOE APOE_HUMAN P02649 VAR_000648 T 60 A Polymorphism 42 1BZ4 A 22 APOE APOE_HUMAN P02649 VAR_014114 Q 64 H Polymorphism 46 1BZ4 A 22 APOE APOE_HUMAN P02649 VAR_000649 Q 99 K Polymorphism 81 1BZ4 A 22 APOE APOE_HUMAN P02649 VAR_000650 P 102 R Polymorphism 84 1BZ4 A 22 APOE APOE_HUMAN P02649 VAR_000651 A 117 T Polymorphism 99 1BZ4 A 22 APOE APOE_HUMAN P02649 VAR_016789 A 124 V Polymorphism 106 1BZ4 A 22 APOE APOE_HUMAN P02649 VAR_000652 C 130 R Disease 112 1BZ4 A 22 APOE APOE_HUMAN P02649 VAR_000653 G 145 D Polymorphism 127 1BZ4 A 22 APOE APOE_HUMAN P02649 VAR_000655 R 152 Q Polymorphism 134 1BZ4 A 22 APOE APOE_HUMAN P02649 VAR_000657 R 154 C Disease 136 1BZ4 A 22 APOE APOE_HUMAN P02649 VAR_000656 R 154 S Disease 136 1BZ4 A 22 APOE APOE_HUMAN P02649 VAR_000658 R 160 C Disease 142 1BZ4 A 22 APOE APOE_HUMAN P02649 VAR_000659 R 163 C Disease 145 1BZ4 A 22 APOE APOE_HUMAN P02649 VAR_000660 R 163 H Unclassified 145 1C1Z A 1 APOH APOH_HUMAN P02749 VAR_008169 S 107 N Polymorphism 88 1C1Z A 1 APOH APOH_HUMAN P02749 VAR_019155 R 154 H Polymorphism 135 1C1Z A 1 APOH APOH_HUMAN P02749 VAR_008170 C 325 G Polymorphism 306 1ORE A 2 APRT APT_HUMAN P07741 VAR_006747 D 65 V Disease 65 1ORE A 2 APRT APT_HUMAN P07741 VAR_006748 L 110 P Disease 110 1ORE A 2 APRT APT_HUMAN P07741 VAR_019055 Q 121 R Polymorphism 121 1ORE A 2 APRT APT_HUMAN P07741 VAR_006749 M 136 T Disease 136 1ORE A 2 APRT APT_HUMAN P07741 VAR_022608 V 150 F Disease 150 1ORE A 2 APRT APT_HUMAN P07741 VAR_022609 C 153 R Disease 153 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004690 D 695 H Unclassified 695 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004691 D 695 N Unclassified 695 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004692 D 695 V Unclassified 695 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009771 L 700 M Unclassified 700 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009772 L 701 F Unclassified 701 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009773 L 701 H Disease 701 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009774 S 702 A Unclassified 702 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009775 S 703 C Unclassified 703 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004693 S 703 G Unclassified 703 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009776 N 705 S Unclassified 705 1E3G A 669 AR ANDR_HUMAN P10275 VAR_013475 N 705 Y Unclassified 705 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004694 L 707 R Unclassified 707 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009777 G 708 A Unclassified 708 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009778 G 708 V Unclassified 708 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009779 R 710 T Unclassified 710 1E3G A 669 AR ANDR_HUMAN P10275 VAR_013476 Q 711 E Unclassified 711 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009780 L 712 F Unclassified 712 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009781 V 715 M Disease 715 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009782 K 717 E Disease 717 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009783 K 720 E Disease 720 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009784 A 721 T Disease 721 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009785 L 722 F Unclassified 722 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009786 P 723 S Unclassified 723 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009787 G 724 D Disease 724 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009788 F 725 L Unclassified 725 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009789 R 726 L Disease 726 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009790 N 727 K Unclassified 727 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009791 L 728 S Unclassified 728 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004695 V 730 M Disease 730 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004696 D 732 N Unclassified 732 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004697 D 732 Y Unclassified 732 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009792 Q 733 H Unclassified 733 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009793 I 737 T Unclassified 737 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009794 W 741 R Unclassified 741 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004698 M 742 I Unclassified 742 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009795 M 742 V Unclassified 742 1E3G A 669 AR ANDR_HUMAN P10275 VAR_013477 G 743 E Unclassified 743 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004699 G 743 V Unclassified 743 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009796 L 744 F Disease 744 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009797 M 745 T Unclassified 745 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009798 V 746 M Unclassified 746 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009799 A 748 D Unclassified 748 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009800 A 748 T Disease 748 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009801 A 748 V Disease 748 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009802 M 749 I Disease 749 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004700 M 749 V Unclassified 749 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004701 G 750 D Unclassified 750 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009803 G 750 S Disease 750 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009804 W 751 R Unclassified 751 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004702 R 752 Q Unclassified 752 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009805 F 754 L Disease 754 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004703 F 754 V Unclassified 754 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009806 T 755 A Disease 755 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009807 N 756 S Unclassified 756 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009808 V 757 A Disease 757 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009809 N 758 T Unclassified 758 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009810 S 759 F Unclassified 759 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009811 S 759 P Disease 759 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004704 L 762 F Unclassified 762 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004705 Y 763 C Disease 763 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009812 Y 763 H Unclassified 763 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009813 F 764 L Unclassified 764 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004707 A 765 T Unclassified 765 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009814 A 765 V Unclassified 765 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009815 P 766 S Unclassified 766 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009816 D 767 E Unclassified 767 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009817 L 768 P Unclassified 768 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009818 N 771 H Unclassified 771 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009819 E 772 A Unclassified 772 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009820 E 772 G Unclassified 772 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004709 R 774 C Unclassified 774 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004708 R 774 H Unclassified 774 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004710 R 779 W Unclassified 779 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004711 M 780 I Unclassified 780 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009821 S 782 N Disease 782 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004712 C 784 Y Unclassified 784 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004713 M 787 V Unclassified 787 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009822 R 788 S Unclassified 788 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009823 L 790 F Unclassified 790 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009824 S 791 P Disease 791 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009825 E 793 D Polymorphism 793 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004714 F 794 S Unclassified 794 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004715 Q 798 E Disease 798 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009826 C 806 Y Unclassified 806 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004716 M 807 R Unclassified 807 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009827 M 807 T Unclassified 807 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004717 M 807 V Unclassified 807 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009828 L 812 F Unclassified 812 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004718 S 814 N Unclassified 814 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009829 G 820 A Unclassified 820 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009830 L 821 V Unclassified 821 1E3G A 669 AR ANDR_HUMAN P10275 VAR_013478 F 827 V Unclassified 827 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009831 L 830 P Disease 830 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004719 R 831 L Unclassified 831 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004720 R 831 Q Unclassified 831 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009832 Y 834 C Unclassified 834 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004721 R 840 C Unclassified 840 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004722 R 840 G Unclassified 840 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004723 R 840 H Unclassified 840 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009229 R 840 S Unclassified 840 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009833 I 841 S Unclassified 841 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004724 I 842 T Unclassified 842 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009834 R 846 G Disease 846 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009835 R 854 K Unclassified 854 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004725 R 855 C Unclassified 855 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004726 R 855 H Unclassified 855 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009836 F 856 L Unclassified 856 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009837 L 863 R Unclassified 863 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009838 D 864 G Unclassified 864 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004727 D 864 N Unclassified 864 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009839 S 865 P Unclassified 865 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004728 V 866 E Unclassified 866 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004729 V 866 L Unclassified 866 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004730 V 866 M Disease 866 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004731 I 869 M Unclassified 869 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009840 A 870 G Unclassified 870 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009841 A 870 V Unclassified 870 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009842 R 871 G Unclassified 871 1E3G A 669 AR ANDR_HUMAN P10275 VAR_013479 H 874 R Unclassified 874 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009843 H 874 Y Disease 874 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004732 T 877 A Disease 877 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009844 T 877 S Disease 877 1E3G A 669 AR ANDR_HUMAN P10275 VAR_013480 D 879 Y Unclassified 879 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009845 L 880 Q Disease 880 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009846 L 881 V Unclassified 881 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009847 M 886 V Unclassified 886 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009848 V 889 M Unclassified 889 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009849 D 890 N Disease 890 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009850 F 891 L Disease 891 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004733 P 892 L Unclassified 892 1E3G A 669 AR ANDR_HUMAN P10275 VAR_004734 M 895 T Unclassified 895 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009851 A 896 T Disease 896 1E3G A 669 AR ANDR_HUMAN P10275 VAR_009852 I 898 T Unclassified 898 1WVA A 5 ARG1 ARGI1_HUMAN P05089 VAR_015595 G 138 V Disease 138 1WVA A 5 ARG1 ARGI1_HUMAN P05089 VAR_000674 G 235 R Disease 235 1WVA A 5 ARG1 ARGI1_HUMAN P05089 VAR_000675 T 290 S Polymorphism 290 1K62 A 15 ASL ARLY_HUMAN P04424 VAR_000676 R 95 C Disease 95 1K62 A 15 ASL ARLY_HUMAN P04424 VAR_000677 R 111 W Disease 111 1K62 A 15 ASL ARLY_HUMAN P04424 VAR_017572 V 178 M Disease 178 1K62 A 15 ASL ARLY_HUMAN P04424 VAR_000678 R 193 Q Disease 193 1K62 A 15 ASL ARLY_HUMAN P04424 VAR_017573 R 379 C Disease 379 1K62 A 15 ASL ARLY_HUMAN P04424 VAR_017574 R 385 C Disease 385 1P4R A 4 ATIC PUR9_HUMAN P31939 VAR_019306 T 116 S Polymorphism 116 1P4R A 4 ATIC PUR9_HUMAN P31939 VAR_019307 K 426 R Disease 426 1HZD A 74 AUH AUMH_HUMAN Q13825 VAR_016911 A 240 V Disease 240 1DK8 A 111 AXIN1 AXN1_HUMAN O15169 VAR_015589 L 106 R Disease 143 1BP1 @ 1 BPI BPI_HUMAN P17213 VAR_018402 A 192 V Polymorphism 165 1BP1 @ 1 BPI BPI_HUMAN P17213 VAR_018403 K 212 E Polymorphism 185 1ISF A 2 BST1 BST1_HUMAN Q10588 VAR_021964 R 125 H Polymorphism 93 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006240 Y 418 H Disease 418 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006241 I 429 N Disease 429 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006242 K 430 E Disease 430 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_008314 K 430 R Disease 430 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_008315 E 445 D Disease 445 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_008316 G 462 D Disease 462 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_008317 G 462 V Disease 462 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006243 Y 476 D Disease 476 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006244 M 477 R Disease 477 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006245 C 502 F Disease 502 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006246 C 502 W Disease 502 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006247 C 506 R Disease 506 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006248 C 506 Y Disease 506 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_008318 A 508 D Disease 508 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_008319 M 509 I Disease 509 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006249 M 509 V Disease 509 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_008961 L 512 P Disease 512 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_008962 L 512 Q Disease 512 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_008320 L 518 R Disease 518 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006251 R 520 Q Disease 520 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_008321 D 521 G Disease 521 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006252 D 521 H Disease 521 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006253 D 521 N Disease 521 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_008322 A 523 E Disease 523 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_008323 R 525 G Disease 525 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006254 R 525 P Disease 525 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006255 R 525 Q Disease 525 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006256 N 526 K Disease 526 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_008324 V 535 F Disease 535 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006257 L 542 P Disease 542 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_008963 R 544 G Disease 544 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006258 R 544 K Disease 544 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_008325 F 559 S Disease 559 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006259 R 562 P Disease 562 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006260 R 562 W Disease 562 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_008326 W 563 L Disease 563 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006261 E 567 K Disease 567 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_008964 S 578 Y Disease 578 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006262 W 581 R Disease 581 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006263 A 582 V Disease 582 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_008327 F 583 S Disease 583 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006264 M 587 L Disease 587 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_008328 E 589 D Disease 589 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006265 E 589 G Disease 589 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_008965 E 589 K Disease 589 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006267 S 592 P Disease 592 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006268 G 594 E Disease 594 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006269 G 594 R Disease 594 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006270 Y 598 C Disease 598 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006271 A 607 D Disease 607 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006272 G 613 D Disease 613 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_008330 P 619 A Disease 619 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006273 P 619 S Disease 619 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_008331 P 619 T Disease 619 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_008332 A 622 P Disease 622 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_008333 V 626 G Disease 626 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006274 M 630 I Polymorphism 630 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006275 M 630 K Disease 630 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_008334 M 630 T Disease 630 1K2P A 397 BTK BTK_HUMAN Q06187 VAR_006276 C 633 Y Disease 633 1C3D @ 1 C3 CO3_HUMAN P01024 VAR_022761 D 1216 N Unclassified 223 1C3D @ 1 C3 CO3_HUMAN P01024 VAR_019207 G 1224 D Polymorphism 231 1AZM @ 3 CA1 CAH1_HUMAN P00915 VAR_001378 H 68 R Unclassified 67 1AZM @ 3 CA1 CAH1_HUMAN P00915 VAR_001379 G 254 R Unclassified 253 1EOU A 3 CA2 CAH2_HUMAN P00918 VAR_001381 Q 92 P Disease 92 1EOU A 3 CA2 CAH2_HUMAN P00918 VAR_021009 H 94 Y Disease 94 1EOU A 3 CA2 CAH2_HUMAN P00918 VAR_001382 H 107 Y Disease 107 1EOU A 3 CA2 CAH2_HUMAN P00918 VAR_021010 G 144 R Disease 144 1EOU A 3 CA2 CAH2_HUMAN P00918 VAR_001384 N 252 D Polymorphism 252 1ZCM A 33 CAPN1 CAN1_HUMAN P07384 VAR_021085 T 103 A Polymorphism 103 1KFU L 2 CAPN2 CAN2_HUMAN P17655 VAR_014435 E 22 D Polymorphism 22 1KFU L 2 CAPN2 CAN2_HUMAN P17655 VAR_021405 K 476 R Polymorphism 476 1KFU L 2 CAPN2 CAN2_HUMAN P17655 VAR_014436 K 568 Q Polymorphism 568 1KFU L 2 CAPN2 CAN2_HUMAN P17655 VAR_021407 K 677 Q Polymorphism 677 1QTN A 223 CASP8 CASP8_HUMAN Q14790 VAR_014204 R 248 W Disease 248 1QTN A 223 CASP8 CASP8_HUMAN Q14790 VAR_020127 D 285 H Polymorphism 285 1JKW @ 11 CCNH CCNH_HUMAN P51946 VAR_013068 M 54 V Polymorphism 54 1JKW @ 11 CCNH CCNH_HUMAN P51946 VAR_013069 K 138 R Polymorphism 138 1ONQ A 7 CD1A CD1A_HUMAN P06126 VAR_010210 W 68 C Polymorphism 51 1ZT4 A 6 CD1D CD1D_HUMAN P15813 VAR_010211 T 64 S Polymorphism 46 1YH3 A 45 CD38 CD38_HUMAN P28907 VAR_001323 R 140 W Polymorphism 140 1ALY @ 116 CD40LG CD40L_HUMAN P29965 VAR_007517 W 140 C Disease 140 1ALY @ 116 CD40LG CD40L_HUMAN P29965 VAR_007518 W 140 G Disease 140 1ALY @ 116 CD40LG CD40L_HUMAN P29965 VAR_007519 W 140 R Disease 140 1ALY @ 116 CD40LG CD40L_HUMAN P29965 VAR_017932 K 143 T Disease 143 1ALY @ 116 CD40LG CD40L_HUMAN P29965 VAR_007520 G 144 E Disease 144 1ALY @ 116 CD40LG CD40L_HUMAN P29965 VAR_017922 T 147 N Disease 147 1ALY @ 116 CD40LG CD40L_HUMAN P29965 VAR_007521 L 155 P Disease 155 1ALY @ 116 CD40LG CD40L_HUMAN P29965 VAR_017923 Y 170 C Disease 170 1ALY @ 116 CD40LG CD40L_HUMAN P29965 VAR_017933 A 173 D Disease 173 1ALY @ 116 CD40LG CD40L_HUMAN P29965 VAR_017927 Q 174 R Disease 174 1ALY @ 116 CD40LG CD40L_HUMAN P29965 VAR_017934 T 176 I Disease 176 1ALY @ 116 CD40LG CD40L_HUMAN P29965 VAR_017935 L 195 P Disease 195 1ALY @ 116 CD40LG CD40L_HUMAN P29965 VAR_017936 A 208 D Disease 208 1ALY @ 116 CD40LG CD40L_HUMAN P29965 VAR_007522 T 211 N Disease 211 1ALY @ 116 CD40LG CD40L_HUMAN P29965 VAR_007523 G 219 R Polymorphism 219 1ALY @ 116 CD40LG CD40L_HUMAN P29965 VAR_017937 H 224 Y Disease 224 1ALY @ 116 CD40LG CD40L_HUMAN P29965 VAR_017938 G 226 A Disease 226 1ALY @ 116 CD40LG CD40L_HUMAN P29965 VAR_007524 G 227 V Disease 227 1ALY @ 116 CD40LG CD40L_HUMAN P29965 VAR_007526 L 231 S Disease 231 1ALY @ 116 CD40LG CD40L_HUMAN P29965 VAR_007527 A 235 P Disease 235 1ALY @ 116 CD40LG CD40L_HUMAN P29965 VAR_017939 V 237 E Disease 237 1ALY @ 116 CD40LG CD40L_HUMAN P29965 VAR_007528 T 254 M Disease 254 1ALY @ 116 CD40LG CD40L_HUMAN P29965 VAR_017940 G 257 D Disease 257 1ALY @ 116 CD40LG CD40L_HUMAN P29965 VAR_017928 G 257 S Disease 257 1ALY @ 116 CD40LG CD40L_HUMAN P29965 VAR_017924 L 258 S Disease 258 1CKL A 1 CD46 MCP_HUMAN P15529 VAR_026568 R 59 Q Polymorphism 25 1H03 P 5 CD55 DAF_HUMAN P08174 VAR_002000 S 199 L Unclassified 43 1H03 P 5 CD55 DAF_HUMAN P08174 VAR_002001 A 227 P Unclassified 71 1H03 P 5 CD55 DAF_HUMAN P08174 VAR_015884 R 240 H Unclassified 84 1OHC A 42 CDC14B CC14B_HUMAN O60729 VAR_019959 I 302 T Polymorphism 302 1OHC A 42 CDC14B CC14B_HUMAN O60729 VAR_019960 I 341 T Polymorphism 341 1FIN A 1 CDK2 CDK2_HUMAN P24941 VAR_016157 Y 15 S Polymorphism 15 1FIN A 1 CDK2 CDK2_HUMAN P24941 VAR_019988 T 290 S Polymorphism 290 1IHB A 5 CDKN2C CDN2C_HUMAN P42773 VAR_001490 A 72 P Disease 72 1FPZ A 25 CDKN3 CDKN3_HUMAN Q16667 VAR_013843 F 78 L Disease 78 1FPZ A 25 CDKN3 CDKN3_HUMAN Q16667 VAR_013844 C 79 Y Disease 79 1FPZ A 25 CDKN3 CDKN3_HUMAN Q16667 VAR_013845 N 91 K Disease 91 1FPZ A 25 CDKN3 CDKN3_HUMAN Q16667 VAR_013846 D 94 V Disease 94 1FPZ A 25 CDKN3 CDKN3_HUMAN Q16667 VAR_013847 L 95 F Disease 95 1FPZ A 25 CDKN3 CDKN3_HUMAN Q16667 VAR_013848 I 108 V Disease 108 2G7I A 1107 CFH CFAH_HUMAN P08603 VAR_025875 V 1134 G Disease 1134 2G7I A 1107 CFH CFAH_HUMAN P08603 VAR_025876 Y 1142 D Disease 1142 2G7I A 1107 CFH CFAH_HUMAN P08603 VAR_025877 W 1157 R Disease 1157 2G7I A 1107 CFH CFAH_HUMAN P08603 VAR_025878 C 1163 W Disease 1163 2G7I A 1107 CFH CFAH_HUMAN P08603 VAR_025879 W 1183 L Disease 1183 2G7I A 1107 CFH CFAH_HUMAN P08603 VAR_025880 W 1183 R Disease 1183 2G7I A 1107 CFH CFAH_HUMAN P08603 VAR_025881 T 1184 R Disease 1184 2G7I A 1107 CFH CFAH_HUMAN P08603 VAR_019407 L 1189 R Disease 1189 2G7I A 1107 CFH CFAH_HUMAN P08603 VAR_019408 S 1191 L Disease 1191 2G7I A 1107 CFH CFAH_HUMAN P08603 VAR_025882 G 1194 D Disease 1194 2G7I A 1107 CFH CFAH_HUMAN P08603 VAR_025883 V 1197 A Disease 1197 2G7I A 1107 CFH CFAH_HUMAN P08603 VAR_025884 E 1198 A Disease 1198 2G7I A 1107 CFH CFAH_HUMAN P08603 VAR_025885 R 1210 C Disease 1210 1W0R A 1 CFP PROP_HUMAN P27918 VAR_020395 V 53 M Polymorphism 26 1W0R A 1 CFP PROP_HUMAN P27918 VAR_002002 R 100 W Disease 73 1W0R A 1 CFP PROP_HUMAN P27918 VAR_020396 P 204 L Polymorphism 177 1W0R A 1 CFP PROP_HUMAN P27918 VAR_020397 G 250 S Polymorphism 223 1W0R A 1 CFP PROP_HUMAN P27918 VAR_013139 G 298 V Disease 271 1W0R A 1 CFP PROP_HUMAN P27918 VAR_002003 Q 343 R Disease 316 1HJV A 22 CHI3L1 CH3L1_HUMAN P36222 VAR_019838 R 145 G Polymorphism 145 1HJV A 22 CHI3L1 CH3L1_HUMAN P36222 VAR_019839 I 311 T Polymorphism 311 1HKI A 22 CHIT1 CHIT1_HUMAN Q13231 VAR_022138 G 102 S Polymorphism 102 1G86 A 2 CLC LPPL_HUMAN Q05315 VAR_014765 V 28 A Polymorphism 28 1HTN @ 26 CLEC3B TETN_HUMAN P05452 VAR_012318 S 106 G Polymorphism 85 1XAR A 251 CLEC4M CLC4M_HUMAN Q9H2X3 VAR_021957 D 291 N Polymorphism 291 1GR3 A 549 COL10A1 COAA1_HUMAN Q03692 VAR_023188 Y 582 D Disease 582 1GR3 A 549 COL10A1 COAA1_HUMAN Q03692 VAR_001841 C 591 R Disease 591 1GR3 A 549 COL10A1 COAA1_HUMAN Q03692 VAR_001842 G 595 E Disease 595 1GR3 A 549 COL10A1 COAA1_HUMAN Q03692 VAR_023189 G 595 R Disease 595 1GR3 A 549 COL10A1 COAA1_HUMAN Q03692 VAR_008039 Y 597 C Disease 597 1GR3 A 549 COL10A1 COAA1_HUMAN Q03692 VAR_001843 Y 597 H Disease 597 1GR3 A 549 COL10A1 COAA1_HUMAN Q03692 VAR_001844 Y 598 D Disease 598 1GR3 A 549 COL10A1 COAA1_HUMAN Q03692 VAR_001845 S 600 P Disease 600 1GR3 A 549 COL10A1 COAA1_HUMAN Q03692 VAR_023190 V 603 M Polymorphism 603 1GR3 A 549 COL10A1 COAA1_HUMAN Q03692 VAR_001846 L 614 P Disease 614 1GR3 A 549 COL10A1 COAA1_HUMAN Q03692 VAR_001847 N 617 K Disease 617 1GR3 A 549 COL10A1 COAA1_HUMAN Q03692 VAR_001848 G 618 V Disease 618 1GR3 A 549 COL10A1 COAA1_HUMAN Q03692 VAR_001849 L 644 R Disease 644 1GR3 A 549 COL10A1 COAA1_HUMAN Q03692 VAR_001850 D 648 G Disease 648 1GR3 A 549 COL10A1 COAA1_HUMAN Q03692 VAR_023191 W 651 R Disease 651 1GR3 A 549 COL10A1 COAA1_HUMAN Q03692 VAR_023192 Q 653 P Disease 653 1GR3 A 549 COL10A1 COAA1_HUMAN Q03692 VAR_023193 S 671 P Disease 671 1BNL A 1 COL18A1 COIA1_HUMAN P39060 VAR_012709 D 1437 N Unclassified 104 2G98 A 1 CRYGD CRGD_HUMAN P07320 VAR_010735 R 59 H Disease 58 2G98 A 1 CRYGD CRGD_HUMAN P07320 VAR_021146 M 102 V Polymorphism 101 1YB5 A 6 CRYZ QOR_HUMAN Q08257 VAR_022913 P 66 S Polymorphism 66 1YB5 A 6 CRYZ QOR_HUMAN Q08257 VAR_022914 I 176 V Polymorphism 176 1CSG A 5 CSF2 CSF2_HUMAN P04141 VAR_013089 T 115 I Polymorphism 98 1CSG A 5 CSF2 CSF2_HUMAN P04141 VAR_001975 I 117 T Polymorphism 100 1G96 A 10 CST3 CYTC_HUMAN P01034 VAR_002207 L 94 Q Disease 68 1ATK @ 1 CTSK CATK_HUMAN P43235 VAR_006725 G 146 R Disease 32 1ATK @ 1 CTSK CATK_HUMAN P43235 VAR_015739 A 277 V Disease 163 1ATK @ 1 CTSK CATK_HUMAN P43235 VAR_006726 L 309 P Disease 195 1GLO A 1 CTSS CATS_HUMAN P25774 VAR_025386 S 161 T Polymorphism 47 1EF7 A 1 CTSZ CATZ_HUMAN Q9UBR2 VAR_010255 A 129 R Unclassified 68 1UMK A 30 CYB5R3 NCB5R_HUMAN P00387 VAR_004619 R 58 Q Disease 57 1UMK A 30 CYB5R3 NCB5R_HUMAN P00387 VAR_018419 S 66 P Polymorphism 65 1UMK A 30 CYB5R3 NCB5R_HUMAN P00387 VAR_010750 L 73 P Disease 72 1UMK A 30 CYB5R3 NCB5R_HUMAN P00387 VAR_004620 V 106 M Disease 105 1UMK A 30 CYB5R3 NCB5R_HUMAN P00387 VAR_010751 T 117 S Polymorphism 116 1UMK A 30 CYB5R3 NCB5R_HUMAN P00387 VAR_004621 S 128 P Disease 127 1UMK A 30 CYB5R3 NCB5R_HUMAN P00387 VAR_004622 L 149 P Disease 148 1UMK A 30 CYB5R3 NCB5R_HUMAN P00387 VAR_010752 A 179 V Disease 178 1UMK A 30 CYB5R3 NCB5R_HUMAN P00387 VAR_010753 C 204 R Disease 203 1UMK A 30 CYB5R3 NCB5R_HUMAN P00387 VAR_010754 C 204 Y Disease 203 1Z11 A 30 CYP2A6 CP2A6_HUMAN P11509 VAR_024711 F 118 L Polymorphism 118 1Z11 A 30 CYP2A6 CP2A6_HUMAN P11509 VAR_011577 R 128 Q Polymorphism 128 1Z11 A 30 CYP2A6 CP2A6_HUMAN P11509 VAR_018332 K 194 E Polymorphism 194 1Z11 A 30 CYP2A6 CP2A6_HUMAN P11509 VAR_018333 R 203 S Polymorphism 203 1Z11 A 30 CYP2A6 CP2A6_HUMAN P11509 VAR_024712 S 224 P Polymorphism 224 1Z11 A 30 CYP2A6 CP2A6_HUMAN P11509 VAR_024713 V 365 M Polymorphism 365 1Z11 A 30 CYP2A6 CP2A6_HUMAN P11509 VAR_024714 N 418 D Polymorphism 418 1Z11 A 30 CYP2A6 CP2A6_HUMAN P11509 VAR_011578 I 471 T Polymorphism 471 1Z11 A 30 CYP2A6 CP2A6_HUMAN P11509 VAR_024715 K 476 R Polymorphism 476 1Z11 A 30 CYP2A6 CP2A6_HUMAN P11509 VAR_008356 G 479 V Polymorphism 479 1Z11 A 30 CYP2A6 CP2A6_HUMAN P11509 VAR_011579 R 485 L Polymorphism 485 1PQ2 A 28 CYP2C8 CP2C8_HUMAN P10632 VAR_012238 R 139 K Polymorphism 139 1PQ2 A 28 CYP2C8 CP2C8_HUMAN P10632 VAR_001250 E 154 D Unclassified 154 1PQ2 A 28 CYP2C8 CP2C8_HUMAN P10632 VAR_001251 N 193 K Unclassified 193 1PQ2 A 28 CYP2C8 CP2C8_HUMAN P10632 VAR_018958 I 244 V Polymorphism 244 1PQ2 A 28 CYP2C8 CP2C8_HUMAN P10632 VAR_001252 K 249 R Unclassified 249 1PQ2 A 28 CYP2C8 CP2C8_HUMAN P10632 VAR_011754 I 264 M Polymorphism 264 1PQ2 A 28 CYP2C8 CP2C8_HUMAN P10632 VAR_012239 I 269 F Polymorphism 269 1PQ2 A 28 CYP2C8 CP2C8_HUMAN P10632 VAR_016947 L 390 S Polymorphism 390 1PQ2 A 28 CYP2C8 CP2C8_HUMAN P10632 VAR_012240 K 399 R Polymorphism 399 1PQ2 A 28 CYP2C8 CP2C8_HUMAN P10632 VAR_001253 H 411 L Unclassified 411 1OG2 A 30 CYP2C9 CP2C9_HUMAN P11712 VAR_008343 R 144 C Polymorphism 144 1OG2 A 30 CYP2C9 CP2C9_HUMAN P11712 VAR_018863 R 150 H Polymorphism 150 1OG2 A 30 CYP2C9 CP2C9_HUMAN P11712 VAR_018864 H 251 R Polymorphism 251 1OG2 A 30 CYP2C9 CP2C9_HUMAN P11712 VAR_018865 E 272 G Polymorphism 272 1OG2 A 30 CYP2C9 CP2C9_HUMAN P11712 VAR_018866 R 335 W Polymorphism 335 1OG2 A 30 CYP2C9 CP2C9_HUMAN P11712 VAR_008344 Y 358 C Polymorphism 358 1OG2 A 30 CYP2C9 CP2C9_HUMAN P11712 VAR_008345 I 359 L Polymorphism 359 1OG2 A 30 CYP2C9 CP2C9_HUMAN P11712 VAR_013515 I 359 T Polymorphism 359 1OG2 A 30 CYP2C9 CP2C9_HUMAN P11712 VAR_013516 D 360 E Polymorphism 360 1OG2 A 30 CYP2C9 CP2C9_HUMAN P11712 VAR_024717 L 413 P Polymorphism 413 1OG2 A 30 CYP2C9 CP2C9_HUMAN P11712 VAR_008346 G 417 D Polymorphism 417 1OG2 A 30 CYP2C9 CP2C9_HUMAN P11712 VAR_018867 P 489 S Polymorphism 489 1ST0 B 40 DCPS DCPS_HUMAN Q96C86 VAR_027958 G 73 E Polymorphism 73 1TXQ A 25 DCTN1 DYNA_HUMAN Q14203 VAR_015850 G 59 S Disease 59 2BQQ A 52 DCX DCX_HUMAN O43602 VAR_010202 R 120 H Unclassified 78 2BQQ A 52 DCX DCX_HUMAN O43602 VAR_007824 R 120 L Unclassified 78 2BQQ A 52 DCX DCX_HUMAN O43602 VAR_007825 D 128 H Unclassified 86 2BQQ A 52 DCX DCX_HUMAN O43602 VAR_010536 R 131 G Unclassified 89 2BQQ A 52 DCX DCX_HUMAN O43602 VAR_026027 L 139 R Unclassified 97 2BQQ A 52 DCX DCX_HUMAN O43602 VAR_007826 G 142 A Disease 100 2BQQ A 52 DCX DCX_HUMAN O43602 VAR_007827 R 144 S Disease 102 2BQQ A 52 DCX DCX_HUMAN O43602 VAR_026028 I 146 T Unclassified 104 1DXX A 9 DMD DMD_HUMAN P11532 VAR_005147 L 54 R Disease 54 1DXX A 9 DMD DMD_HUMAN P11532 VAR_005148 Q 133 P Polymorphism 133 1DXX A 9 DMD DMD_HUMAN P11532 VAR_023538 D 165 V Unclassified 165 2J0F A 34 ECGF1 TYPH_HUMAN P19971 VAR_007643 G 145 R Disease 145 2J0F A 34 ECGF1 TYPH_HUMAN P19971 VAR_007644 G 153 S Disease 153 2J0F A 34 ECGF1 TYPH_HUMAN P19971 VAR_007646 E 289 A Disease 289 1RJ7 A 247 EDA EDA_HUMAN Q92838 VAR_013486 G 269 V Disease 269 1RJ7 A 247 EDA EDA_HUMAN Q92838 VAR_011079 W 274 G Disease 274 1RJ7 A 247 EDA EDA_HUMAN Q92838 VAR_010613 G 291 R Disease 291 1RJ7 A 247 EDA EDA_HUMAN Q92838 VAR_010614 G 291 W Disease 291 1RJ7 A 247 EDA EDA_HUMAN Q92838 VAR_010615 D 298 H Disease 298 1RJ7 A 247 EDA EDA_HUMAN Q92838 VAR_005188 G 299 S Disease 299 1RJ7 A 247 EDA EDA_HUMAN Q92838 VAR_013487 F 302 S Disease 302 1RJ7 A 247 EDA EDA_HUMAN Q92838 VAR_011080 C 332 Y Disease 332 1RJ7 A 247 EDA EDA_HUMAN Q92838 VAR_005189 A 349 T Disease 349 1RJ7 A 247 EDA EDA_HUMAN Q92838 VAR_005190 A 356 D Disease 356 1RJ7 A 247 EDA EDA_HUMAN Q92838 VAR_005191 R 357 P Disease 357 1IVO A 2 EGFR EGFR_HUMAN P00533 VAR_019293 R 98 Q Polymorphism 74 1IVO A 2 EGFR EGFR_HUMAN P00533 VAR_019294 P 266 R Polymorphism 242 1TE6 A 1 ENO2 ENOG_HUMAN P09104 VAR_002354 P 264 A Polymorphism 263 1TE6 A 1 ENO2 ENOG_HUMAN P09104 VAR_002355 T 395 A Polymorphism 394 1S8O A 4 EPHX2 HYES_HUMAN P34913 VAR_014852 R 287 Q Polymorphism 287 2A1J A 837 ERCC4 ERCC4_HUMAN Q92889 VAR_019201 I 862 V Polymorphism 862 2A1J A 837 ERCC4 ERCC4_HUMAN Q92889 VAR_013408 E 864 G Polymorphism 864 1G50 A 304 ESR1 ESR1_HUMAN P03372 VAR_004672 V 364 E Unclassified 364 1G50 A 304 ESR1 ESR1_HUMAN P03372 VAR_004673 G 400 V Unclassified 400 1EFV A 20 ETFA ETFA_HUMAN P13804 VAR_002366 G 116 R Disease 116 1EFV A 20 ETFA ETFA_HUMAN P13804 VAR_002367 V 157 G Disease 157 1EFV A 20 ETFA ETFA_HUMAN P13804 VAR_008547 T 171 I Polymorphism 171 1EFV A 20 ETFA ETFA_HUMAN P13804 VAR_002368 T 266 M Disease 266 1JWT A 1 F2 THRB_HUMAN P00734 VAR_006714 M 380 T Unclassified 53 1JWT A 1 F2 THRB_HUMAN P00734 VAR_011782 P 386 T Polymorphism 59 1JWT A 1 F2 THRB_HUMAN P00734 VAR_006715 R 425 C Unclassified 98 1JWT A 1 F2 THRB_HUMAN P00734 VAR_006716 R 431 H Unclassified 104 1JWT A 1 F2 THRB_HUMAN P00734 VAR_006717 R 461 W Unclassified 134 1JWT A 1 F2 THRB_HUMAN P00734 VAR_006719 G 601 V Unclassified 268 1BOY @ 3 F3 TF_HUMAN P13726 VAR_014299 I 145 V Polymorphism 113 1BOY @ 3 F3 TF_HUMAN P13726 VAR_012008 R 163 W Polymorphism 131 1CZS A 1 F5 FA5_HUMAN P12259 VAR_017329 R 2102 H Disease 37 1CZS A 1 F5 FA5_HUMAN P12259 VAR_021302 M 2148 T Polymorphism 83 1D7P M 2171 F8 FA8_HUMAN P00451 VAR_001199 A 2211 P Disease 2192 1D7P M 2171 F8 FA8_HUMAN P00451 VAR_028693 A 2220 P Disease 2201 1D7P M 2171 F8 FA8_HUMAN P00451 VAR_028695 P 2224 L Disease 2205 1D7P M 2171 F8 FA8_HUMAN P00451 VAR_001201 R 2228 G Disease 2209 1D7P M 2171 F8 FA8_HUMAN P00451 VAR_001202 R 2228 L Disease 2209 1D7P M 2171 F8 FA8_HUMAN P00451 VAR_028696 R 2228 P Disease 2209 1D7P M 2171 F8 FA8_HUMAN P00451 VAR_001203 R 2228 Q Disease 2209 1D7P M 2171 F8 FA8_HUMAN P00451 VAR_028697 L 2229 F Disease 2210 1D7P M 2171 F8 FA8_HUMAN P00451 VAR_001204 V 2242 M Polymorphism 2223 1D7P M 2171 F8 FA8_HUMAN P00451 VAR_001205 W 2248 C Disease 2229 1D7P M 2171 F8 FA8_HUMAN P00451 VAR_028698 W 2248 S Disease 2229 1D7P M 2171 F8 FA8_HUMAN P00451 VAR_028699 V 2251 A Disease 2232 1D7P M 2171 F8 FA8_HUMAN P00451 VAR_028700 V 2251 E Disease 2232 1D7P M 2171 F8 FA8_HUMAN P00451 VAR_021356 M 2257 V Disease 2238 1D7P M 2171 F8 FA8_HUMAN P00451 VAR_028701 T 2264 A Disease 2245 1D7P M 2171 F8 FA8_HUMAN P00451 VAR_001206 Q 2265 R Disease 2246 1D7P M 2171 F8 FA8_HUMAN P00451 VAR_028702 F 2279 C Disease 2260 1D7P M 2171 F8 FA8_HUMAN P00451 VAR_028703 F 2279 I Disease 2260 1D7P M 2171 F8 FA8_HUMAN P00451 VAR_028704 I 2281 T Disease 2262 1D7P M 2171 F8 FA8_HUMAN P00451 VAR_028705 W 2290 L Disease 2271 1UZJ A 1486 FBN1 FBN1_HUMAN P35555 VAR_002326 C 1513 R Disease 1513 1UZJ A 1486 FBN1 FBN1_HUMAN P35555 VAR_018012 R 1530 C Disease 1530 1UZJ A 1486 FBN1 FBN1_HUMAN P35555 VAR_023886 C 1564 F Disease 1564 1UZJ A 1486 FBN1 FBN1_HUMAN P35555 VAR_018013 C 1564 Y Disease 1564 1UZJ A 1486 FBN1 FBN1_HUMAN P35555 VAR_023887 M 1576 T Disease 1576 1UZJ A 1486 FBN1 FBN1_HUMAN P35555 VAR_002327 C 1589 F Disease 1589 1UZJ A 1486 FBN1 FBN1_HUMAN P35555 VAR_002328 C 1610 G Disease 1610 1E4J A 2 FCGR3B FCG3B_HUMAN O75015 VAR_003963 S 65 N Polymorphism 44 1E4J A 2 FCGR3B FCG3B_HUMAN O75015 VAR_008802 A 78 D Polymorphism 57 1E4J A 2 FCGR3B FCG3B_HUMAN O75015 VAR_003957 N 82 D Polymorphism 61 1E4J A 2 FCGR3B FCG3B_HUMAN O75015 VAR_003964 I 106 V Polymorphism 85 1HRK A 65 FECH HEMH_HUMAN P22830 VAR_002384 I 186 T Disease 186 1HRK A 65 FECH HEMH_HUMAN P22830 VAR_002385 M 267 I Disease 267 1HRK A 65 FECH HEMH_HUMAN P22830 VAR_002386 H 386 P Disease 386 1HRK A 65 FECH HEMH_HUMAN P22830 VAR_002387 F 417 S Disease 417 1FZA A 111 FGA FIBA_HUMAN P02671 VAR_002399 R 160 S Unclassified 141 1G82 A 52 FGF9 FGF9_HUMAN P31371 VAR_020944 I 94 V Polymorphism 94 1Z8L A 56 FOLH1 FOLH1_HUMAN Q04609 VAR_012736 H 475 Y Unclassified 475 1Z8L A 56 FOLH1 FOLH1_HUMAN Q04609 VAR_028882 V 627 L Polymorphism 627 2A07 F 503 FOXP2 FOXP2_HUMAN O15409 VAR_012278 R 553 H Disease 553 1EKG A 90 FXN FRDA_HUMAN Q16595 VAR_002428 D 122 Y Disease 122 1EKG A 90 FXN FRDA_HUMAN Q16595 VAR_002429 G 130 V Disease 130 1EKG A 90 FXN FRDA_HUMAN Q16595 VAR_002430 I 154 F Disease 154 1EKG A 90 FXN FRDA_HUMAN Q16595 VAR_002431 W 155 R Disease 155 1EKG A 90 FXN FRDA_HUMAN Q16595 VAR_008139 R 165 C Disease 165 1EKG A 90 FXN FRDA_HUMAN Q16595 VAR_008140 L 182 F Disease 182 1EK5 A 1 GALE GALE_HUMAN Q14376 VAR_002539 N 34 S Disease 34 1EK5 A 1 GALE GALE_HUMAN Q14376 VAR_002540 G 90 E Disease 90 1EK5 A 1 GALE GALE_HUMAN Q14376 VAR_010058 V 94 M Disease 94 1EK5 A 1 GALE GALE_HUMAN Q14376 VAR_002541 D 103 G Disease 103 1EK5 A 1 GALE GALE_HUMAN Q14376 VAR_002542 A 180 V Polymorphism 180 1EK5 A 1 GALE GALE_HUMAN Q14376 VAR_002543 L 183 P Disease 183 1EK5 A 1 GALE GALE_HUMAN Q14376 VAR_002544 K 257 R Disease 257 1EK5 A 1 GALE GALE_HUMAN Q14376 VAR_002545 L 313 M Disease 313 1EK5 A 1 GALE GALE_HUMAN Q14376 VAR_002546 G 319 E Disease 319 1ZX0 A 8 GAMT GAMT_HUMAN Q14353 VAR_025723 T 209 M Polymorphism 209 1JDW @ 64 GATM GATM_HUMAN P50440 VAR_020305 Q 110 H Polymorphism 110 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003256 F 76 V Disease 37 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_009033 E 80 K Disease 41 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003257 T 82 I Disease 43 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003258 G 85 E Disease 46 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003259 R 87 W Disease 48 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003260 K 118 N Disease 79 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_009034 S 146 L Disease 107 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003261 G 152 E Disease 113 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003262 I 158 T Disease 119 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003263 R 159 Q Disease 120 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003264 R 159 W Disease 120 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003265 P 161 S Disease 122 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_009035 R 170 C Disease 131 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_009036 R 170 L Disease 131 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003266 T 173 P Disease 134 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003267 D 179 H Disease 140 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003268 K 196 Q Disease 157 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_009037 P 198 L Disease 159 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_010059 I 200 S Disease 161 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003269 R 209 P Disease 170 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003270 A 215 D Disease 176 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003271 P 217 S Disease 178 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003272 P 221 T Disease 182 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003273 W 223 R Disease 184 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003275 N 227 K Disease 188 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003274 N 227 S Disease 188 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_010060 G 228 V Disease 189 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_009038 A 229 E Disease 190 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003276 V 230 G Disease 191 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003277 G 234 E Disease 195 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_009039 G 234 W Disease 195 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003278 S 235 P Disease 196 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_010061 G 241 E Disease 202 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003279 G 241 R Disease 202 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_010062 Y 244 C Disease 205 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003280 Y 251 H Disease 212 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003281 F 252 I Disease 213 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003282 F 255 Y Disease 216 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003283 S 276 P Disease 237 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_009040 H 294 Q Disease 255 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003284 R 296 Q Disease 257 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_009041 F 298 L Disease 259 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_010063 G 304 D Disease 265 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003285 P 305 R Disease 266 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_010064 S 310 N Disease 271 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003286 R 324 C Disease 285 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_009042 R 324 H Disease 285 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003287 P 328 L Disease 289 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003288 K 342 I Disease 303 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_009043 Y 343 C Disease 304 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003289 A 348 V Disease 309 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_009044 H 350 R Unclassified 311 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003290 W 351 C Disease 312 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003291 Y 352 H Disease 313 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003292 D 354 H Disease 315 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003293 A 357 D Disease 318 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003294 T 362 I Disease 323 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003295 L 363 P Disease 324 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003296 G 364 R Disease 325 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003297 E 365 K Disease 326 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_009045 A 380 T Disease 341 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003298 C 381 G Disease 342 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_010065 V 391 L Disease 352 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_010066 R 392 G Disease 353 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003299 R 398 Q Disease 359 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003300 S 403 T Disease 364 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_010067 S 405 G Disease 366 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_009046 S 405 N Disease 366 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003301 T 408 M Disease 369 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003302 N 409 S Disease 370 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_010068 V 414 L Disease 375 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003303 G 416 S Disease 377 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003304 W 417 G Disease 378 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003305 D 419 A Disease 380 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003306 D 419 N Disease 380 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_010069 P 426 L Disease 387 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003307 G 428 E Disease 389 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003308 P 430 L Disease 391 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003309 N 431 I Disease 392 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_009047 W 432 R Disease 393 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003310 V 433 L Disease 394 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003311 N 435 T Disease 396 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_009048 V 437 F Unclassified 398 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_010070 V 437 L Disease 398 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003312 D 438 N Disease 399 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_010071 P 440 L Disease 401 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_010072 I 441 T Disease 402 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003313 D 448 H Disease 409 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003314 D 448 V Disease 409 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_010073 F 450 I Disease 411 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003315 Y 451 H Disease 412 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_010074 K 452 Q Disease 413 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003316 P 454 R Disease 415 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003317 F 456 V Disease 417 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003318 Y 457 C Disease 418 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003319 K 464 E Disease 425 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003321 L 483 P Disease 444 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003320 L 483 R Disease 444 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003322 A 485 P Disease 446 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003323 A 495 P Disease 456 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_009049 N 501 K Disease 462 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003324 R 502 C Disease 463 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_003325 L 509 P Polymorphism 470 1Y7V A 1 GBA GLCM_HUMAN P04062 VAR_009050 D 513 Y Disease 474 1KW2 A 20 GC VTDB_HUMAN P02774 VAR_000548 D 432 E Polymorphism 432 1KW2 A 20 GC VTDB_HUMAN P02774 VAR_000549 K 436 T Polymorphism 436 1KW2 A 20 GC VTDB_HUMAN P02774 VAR_014120 R 445 C Polymorphism 445 1KW2 A 20 GC VTDB_HUMAN P02774 VAR_014121 R 445 H Polymorphism 445 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000366 R 88 C Disease 44 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000367 R 94 L Disease 50 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000368 G 101 R Disease 57 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000369 C 115 Y Disease 71 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000370 A 122 V Disease 78 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000371 R 128 G Disease 84 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000372 R 138 G Disease 94 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000373 S 139 L Disease 95 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000374 V 148 I Disease 104 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000375 R 161 Q Disease 117 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000376 G 178 R Disease 134 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000377 L 179 R Disease 135 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000378 M 191 T Disease 147 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000379 A 195 T Disease 151 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000380 R 227 P Disease 183 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000381 F 236 L Disease 192 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000382 R 257 Q Disease 213 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000383 R 257 W Disease 213 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000384 M 266 V Disease 222 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000385 P 278 S Disease 234 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000386 L 283 P Disease 239 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000387 A 293 T Disease 249 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000388 R 294 W Disease 250 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000389 Y 295 H Disease 251 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000390 A 298 T Polymorphism 254 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000391 A 298 V Polymorphism 254 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000392 S 305 L Disease 261 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000393 C 308 S Disease 264 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000394 L 309 W Disease 265 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000395 R 313 W Disease 269 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000396 Q 333 E Disease 289 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000397 A 349 T Disease 305 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000398 G 354 R Disease 310 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000399 G 354 S Disease 310 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000400 R 355 C Disease 311 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000401 R 355 H Disease 311 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000402 E 365 K Disease 321 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000403 C 375 R Disease 331 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000404 A 382 T Disease 338 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000405 R 383 C Disease 339 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000406 R 383 H Disease 339 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000407 R 386 Q Disease 342 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000409 G 390 A Disease 346 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000408 G 390 R Disease 346 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000410 N 392 D Disease 348 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000411 V 400 M Disease 356 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000413 R 402 Q Disease 358 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000412 R 402 W Disease 358 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000414 H 403 R Disease 359 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000415 N 406 K Disease 362 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000416 L 407 P Disease 363 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000417 E 414 K Disease 370 1SIQ A 3 GCDH GCDH_HUMAN Q92947 VAR_000418 T 416 I Disease 372 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_002634 L 79 P Disease 79 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_002635 R 88 P Disease 88 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_002636 R 88 W Disease 88 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_016892 G 90 V Disease 90 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_002637 M 102 K Disease 102 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_016893 M 102 R Disease 102 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_016894 G 108 D Unclassified 108 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_016895 D 115 N Disease 115 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_002638 D 134 V Disease 134 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_016896 I 135 K Disease 135 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_016897 C 141 R Disease 141 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_002639 C 141 W Disease 141 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_002640 H 144 P Disease 144 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_002641 H 153 P Disease 153 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_016898 L 163 R Disease 163 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_016899 S 176 T Disease 176 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_002642 R 178 S Disease 178 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_016900 Q 180 R Disease 180 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_002643 R 184 H Disease 184 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_002644 T 186 K Disease 186 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_016901 V 191 I Disease 191 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_016902 P 199 L Disease 199 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_002645 G 201 E Disease 201 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_002646 G 203 R Disease 203 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_002647 M 211 I Disease 211 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_016903 M 211 V Disease 211 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_016904 M 213 V Disease 213 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_016905 M 221 T Unclassified 221 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_002648 K 224 R Disease 224 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_002649 F 234 S Disease 234 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_016906 R 241 W Disease 241 1FB1 A 55 GCH1 GCH1_HUMAN P30793 VAR_016907 R 249 S Disease 249 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_010584 R 36 W Disease 36 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_010585 A 53 S Disease 53 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_003693 E 70 K Disease 70 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_003694 G 80 A Disease 80 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_003695 G 80 S Disease 80 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_003696 M 107 T Polymorphism 107 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_010586 Y 108 H Disease 108 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_012352 I 110 T Disease 110 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_012353 A 119 D Disease 119 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_003697 S 131 P Disease 131 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_010587 H 137 R Disease 137 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_010588 F 150 S Disease 150 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_012350 L 164 P Disease 164 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_010589 T 168 P Disease 168 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_003698 G 175 R Disease 175 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_003699 V 182 M Disease 182 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_003700 A 188 T Disease 188 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_003701 V 203 A Disease 203 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_010590 T 209 M Disease 209 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_012351 M 210 K Disease 210 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_010591 M 210 T Disease 210 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_010592 C 213 R Disease 213 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_003702 E 221 K Disease 221 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_003703 V 226 M Disease 226 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_003704 G 227 C Disease 227 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_003705 T 228 M Disease 228 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_003706 E 256 K Disease 256 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_003707 W 257 R Disease 257 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_010593 A 259 T Disease 259 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_010594 G 261 E Disease 261 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_003708 G 261 R Disease 261 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_003709 E 279 Q Disease 279 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_003710 G 299 R Disease 299 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_003712 E 300 K Disease 300 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_003711 E 300 Q Disease 300 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_003713 L 309 P Disease 309 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_010595 S 336 L Disease 336 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_010596 V 367 M Disease 367 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_010597 C 382 Y Disease 382 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_010598 A 384 T Disease 384 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_012354 G 385 V Disease 385 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_010599 R 392 C Disease 392 1V4S A 14 GCK HXK4_HUMAN P35557 VAR_003714 K 414 E Disease 414 1WAQ A 17 GDF5 GDF5_HUMAN P43026 VAR_026545 R 438 L Disease 57 1WAQ A 17 GDF5 GDF5_HUMAN P43026 VAR_017408 L 441 P Disease 60 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000436 C 52 R Disease 52 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000437 C 52 S Disease 52 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000438 C 56 F Disease 56 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000439 C 56 G Disease 56 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012372 C 56 Y Disease 56 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000440 E 59 K Disease 59 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000441 E 66 Q Disease 66 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000442 M 72 V Disease 72 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000443 G 85 D Disease 85 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012373 Y 86 C Disease 86 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012374 L 89 P Disease 89 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000444 L 89 R Disease 89 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012375 I 91 T Disease 91 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012376 D 92 H Disease 92 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012377 D 92 Y Disease 92 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012378 D 93 G Disease 93 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012379 C 94 S Disease 94 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012380 C 94 Y Disease 94 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012381 W 95 S Disease 95 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012382 A 97 V Disease 97 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000445 R 100 K Disease 100 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012383 R 100 T Disease 100 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000447 R 112 C Disease 112 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000448 R 112 H Disease 112 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012384 F 113 L Disease 113 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012385 F 113 S Disease 113 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000450 G 128 E Disease 128 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000451 L 131 P Disease 131 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012386 Y 134 S Disease 134 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012387 G 138 R Disease 138 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012388 C 142 R Disease 142 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000452 C 142 Y Disease 142 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000453 A 143 P Disease 143 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012389 A 143 T Disease 143 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000454 G 144 V Disease 144 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000455 P 146 S Disease 146 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012390 S 148 N Disease 148 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012391 S 148 R Disease 148 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000456 A 156 T Disease 156 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000457 A 156 V Disease 156 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012392 W 162 C Disease 162 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000458 W 162 R Disease 162 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012393 G 163 V Disease 163 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000459 D 165 V Disease 165 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000460 L 166 V Disease 166 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012394 D 170 V Disease 170 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012395 C 172 R Disease 172 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000461 C 172 Y Disease 172 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012396 G 183 D Disease 183 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012397 M 187 V Disease 187 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000462 C 202 W Disease 202 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012398 C 202 Y Disease 202 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000463 P 205 T Disease 205 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000464 N 215 S Disease 215 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012400 Y 216 D Disease 216 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000465 I 219 N Disease 219 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012401 C 223 G Disease 223 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000466 N 224 D Disease 224 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012402 N 224 S Disease 224 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012403 W 226 R Disease 226 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000467 R 227 Q Disease 227 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012404 A 230 T Disease 230 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000468 D 231 N Disease 231 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012405 S 235 C Disease 235 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012406 W 236 C Disease 236 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012407 W 236 L Disease 236 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012408 I 242 N Disease 242 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012409 D 244 H Disease 244 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000469 D 244 N Disease 244 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012410 G 258 R Disease 258 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012411 P 259 L Disease 259 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012412 P 259 R Disease 259 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012413 G 260 A Disease 260 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012414 G 261 D Disease 261 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012415 N 263 S Disease 263 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000471 D 264 V Disease 264 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012416 P 265 R Disease 265 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012417 D 266 H Disease 266 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012418 D 266 N Disease 266 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000472 D 266 V Disease 266 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012419 M 267 I Disease 267 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000473 V 269 A Disease 269 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000474 N 272 K Disease 272 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000475 Q 279 E Disease 279 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012420 Q 279 H Disease 279 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012421 Q 280 H Disease 280 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000476 M 284 T Disease 284 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012422 W 287 C Disease 287 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012423 W 287 G Disease 287 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000477 A 288 D Disease 288 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012424 I 289 F Disease 289 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012425 M 296 I Disease 296 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000478 M 296 V Disease 296 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000479 S 297 F Disease 297 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012426 N 298 H Disease 298 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000480 N 298 K Disease 298 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012427 N 298 S Disease 298 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000481 R 301 Q Disease 301 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000482 D 313 Y Disease 313 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000483 V 316 E Disease 316 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012430 N 320 K Disease 320 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012431 N 320 Y Disease 320 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012432 Q 321 E Disease 321 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000484 Q 327 K Disease 327 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000486 G 328 A Disease 328 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000485 G 328 R Disease 328 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012433 W 340 R Disease 340 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012434 E 341 K Disease 341 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000487 R 342 Q Disease 342 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000488 R 356 W Disease 356 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000489 E 358 K Disease 358 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000491 G 361 R Disease 361 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012435 R 363 H Disease 363 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012436 G 373 D Disease 373 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012437 G 373 S Disease 373 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012438 A 377 D Disease 377 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_012439 C 378 Y Disease 378 1R46 A 32 GLA AGAL_HUMAN P06280 VAR_000493 F 396 Y Unclassified 396 2FLS A 15 GLRX2 GLRX2_HUMAN Q9NS18 VAR_025234 K 95 E Polymorphism 55 1L1F A 10 GLUD1 DHE3_HUMAN P00367 VAR_016760 S 270 C Disease 217 1L1F A 10 GLUD1 DHE3_HUMAN P00367 VAR_016761 R 274 C Disease 221 1L1F A 10 GLUD1 DHE3_HUMAN P00367 VAR_009270 R 318 K Disease 265 1L1F A 10 GLUD1 DHE3_HUMAN P00367 VAR_016762 R 318 T Disease 265 1L1F A 10 GLUD1 DHE3_HUMAN P00367 VAR_016763 Y 319 C Disease 266 1L1F A 10 GLUD1 DHE3_HUMAN P00367 VAR_016764 R 322 C Disease 269 1L1F A 10 GLUD1 DHE3_HUMAN P00367 VAR_016765 R 322 H Disease 269 1L1F A 10 GLUD1 DHE3_HUMAN P00367 VAR_009271 E 349 A Disease 296 1L1F A 10 GLUD1 DHE3_HUMAN P00367 VAR_008666 S 498 L Disease 445 1L1F A 10 GLUD1 DHE3_HUMAN P00367 VAR_008667 G 499 D Disease 446 1L1F A 10 GLUD1 DHE3_HUMAN P00367 VAR_008668 G 499 S Disease 446 1L1F A 10 GLUD1 DHE3_HUMAN P00367 VAR_008669 S 501 P Disease 448 1L1F A 10 GLUD1 DHE3_HUMAN P00367 VAR_008670 H 507 Y Disease 454 1PU5 A 1 GM2A SAP3_HUMAN P17900 VAR_006947 C 138 R Disease 109 1PU5 A 1 GM2A SAP3_HUMAN P17900 VAR_011698 R 169 P Disease 140 1WPQ A 2 GPD1 GPDA_HUMAN P21695 VAR_029492 I 54 V Polymorphism 54 1WPQ A 2 GPD1 GPDA_HUMAN P21695 VAR_029493 P 113 A Polymorphism 113 1IAT A 1 GPI G6PI_HUMAN P06744 VAR_002518 R 75 G Disease 74 1IAT A 1 GPI G6PI_HUMAN P06744 VAR_002519 R 83 W Disease 82 1IAT A 1 GPI G6PI_HUMAN P06744 VAR_002521 V 101 M Disease 100 1IAT A 1 GPI G6PI_HUMAN P06744 VAR_002520 G 159 S Disease 158 1IAT A 1 GPI G6PI_HUMAN P06744 VAR_002522 T 195 I Disease 194 1IAT A 1 GPI G6PI_HUMAN P06744 VAR_018816 I 208 T Polymorphism 207 1IAT A 1 GPI G6PI_HUMAN P06744 VAR_002523 T 224 M Disease 223 1IAT A 1 GPI G6PI_HUMAN P06744 VAR_002524 R 273 H Disease 272 1IAT A 1 GPI G6PI_HUMAN P06744 VAR_002525 S 278 L Disease 277 1IAT A 1 GPI G6PI_HUMAN P06744 VAR_002526 A 300 P Disease 299 1IAT A 1 GPI G6PI_HUMAN P06744 VAR_002527 L 339 P Disease 338 1IAT A 1 GPI G6PI_HUMAN P06744 VAR_002528 Q 343 R Disease 342 1IAT A 1 GPI G6PI_HUMAN P06744 VAR_002529 R 347 C Disease 346 1IAT A 1 GPI G6PI_HUMAN P06744 VAR_002530 R 347 H Disease 346 1IAT A 1 GPI G6PI_HUMAN P06744 VAR_002531 T 375 R Disease 374 1IAT A 1 GPI G6PI_HUMAN P06744 VAR_002532 H 389 R Disease 388 1IAT A 1 GPI G6PI_HUMAN P06744 VAR_002533 R 472 H Disease 471 1IAT A 1 GPI G6PI_HUMAN P06744 VAR_002534 L 487 F Disease 486 1IAT A 1 GPI G6PI_HUMAN P06744 VAR_002535 E 495 K Disease 494 1IAT A 1 GPI G6PI_HUMAN P06744 VAR_002536 L 517 V Disease 516 1IAT A 1 GPI G6PI_HUMAN P06744 VAR_002537 I 525 T Disease 524 1KCQ A 159 GSN GELS_HUMAN P06396 VAR_007718 D 214 N Disease 187 1KCQ A 159 GSN GELS_HUMAN P06396 VAR_007719 D 214 Y Disease 187 1BWC A 18 GSR GSHR_HUMAN P00390 VAR_019079 R 153 C Polymorphism 109 1BWC A 18 GSR GSHR_HUMAN P00390 VAR_019080 G 232 S Polymorphism 188 1BWC A 18 GSR GSHR_HUMAN P00390 VAR_019081 I 261 V Polymorphism 217 1BWC A 18 GSR GSHR_HUMAN P00390 VAR_019082 E 297 D Polymorphism 253 1BWC A 18 GSR GSHR_HUMAN P00390 VAR_014554 P 314 H Polymorphism 270 2HGS A 3 GSS GSHB_HUMAN P48637 VAR_003602 A 26 D Disease 26 2HGS A 3 GSS GSHB_HUMAN P48637 VAR_003603 L 188 P Disease 188 2HGS A 3 GSS GSHB_HUMAN P48637 VAR_003604 D 219 A Disease 219 2HGS A 3 GSS GSHB_HUMAN P48637 VAR_003605 D 219 G Disease 219 2HGS A 3 GSS GSHB_HUMAN P48637 VAR_025047 R 236 Q Polymorphism 236 2HGS A 3 GSS GSHB_HUMAN P48637 VAR_003606 L 254 R Disease 254 2HGS A 3 GSS GSHB_HUMAN P48637 VAR_003607 R 267 W Disease 267 2HGS A 3 GSS GSHB_HUMAN P48637 VAR_003608 Y 270 C Disease 270 2HGS A 3 GSS GSHB_HUMAN P48637 VAR_003609 Y 270 H Disease 270 2HGS A 3 GSS GSHB_HUMAN P48637 VAR_003610 R 283 C Disease 283 2HGS A 3 GSS GSHB_HUMAN P48637 VAR_003611 L 286 Q Disease 286 2HGS A 3 GSS GSHB_HUMAN P48637 VAR_003612 R 330 C Disease 330 2HGS A 3 GSS GSHB_HUMAN P48637 VAR_025048 K 437 E Polymorphism 437 2HGS A 3 GSS GSHB_HUMAN P48637 VAR_003613 G 464 V Disease 464 2HGS A 3 GSS GSHB_HUMAN P48637 VAR_003614 D 469 E Disease 469 1AGS A 1 GSTA2 GSTA2_HUMAN P09210 VAR_014496 V 149 A Polymorphism 148 1GUM A 4 GSTA4 GSTA4_HUMAN O15217 VAR_022210 L 100 P Polymorphism 100 1GUM A 4 GSTA4 GSTA4_HUMAN O15217 VAR_022211 T 163 A Polymorphism 163 1GTU A 1 GSTM1 GSTM1_HUMAN P09488 VAR_003617 K 173 N Polymorphism 172 1GTU A 1 GSTM1 GSTM1_HUMAN P09488 VAR_014497 S 210 T Polymorphism 209 1EEM A 5 GSTO1 GSTO1_HUMAN P78417 VAR_029269 S 86 C Polymorphism 86 1EEM A 5 GSTO1 GSTO1_HUMAN P78417 VAR_016811 A 140 D Polymorphism 140 1EEM A 5 GSTO1 GSTO1_HUMAN P78417 VAR_024484 E 208 K Polymorphism 208 1EEM A 5 GSTO1 GSTO1_HUMAN P78417 VAR_026583 A 236 V Polymorphism 236 10GS A 2 GSTP1 GSTP1_HUMAN P09211 VAR_014499 I 105 V Polymorphism 104 10GS A 2 GSTP1 GSTP1_HUMAN P09211 VAR_014500 A 114 V Polymorphism 113 2C3N A 2 GSTT1 GSTT1_HUMAN P30711 VAR_014502 D 141 N Polymorphism 141 2C3N A 2 GSTT1 GSTT1_HUMAN P30711 VAR_014503 V 169 I Polymorphism 169 2C3N A 2 GSTT1 GSTT1_HUMAN P30711 VAR_014504 E 173 K Polymorphism 173 1FW1 A 5 GSTZ1 MAAI_HUMAN O43708 VAR_009707 T 82 M Polymorphism 82 1FW1 A 5 GSTZ1 MAAI_HUMAN O43708 VAR_014505 N 133 H Polymorphism 133 1BHG A 22 GUSB BGLR_HUMAN P08236 VAR_003196 R 216 W Disease 216 1BHG A 22 GUSB BGLR_HUMAN P08236 VAR_003197 A 354 V Disease 354 1BHG A 22 GUSB BGLR_HUMAN P08236 VAR_003198 R 382 C Disease 382 1BHG A 22 GUSB BGLR_HUMAN P08236 VAR_003199 R 611 W Disease 611 1F0Y A 12 HADH HCDH_HUMAN Q16836 VAR_024080 D 57 E Disease 45 1F0Y A 12 HADH HCDH_HUMAN Q16836 VAR_026764 P 86 L Polymorphism 74 1F0Y A 12 HADH HCDH_HUMAN Q16836 VAR_024081 P 258 L Disease 246 1U7T A 7 HADH2 HCD2_HUMAN Q99714 VAR_015987 L 122 V Disease 122 1U7T A 7 HADH2 HCD2_HUMAN Q99714 VAR_015988 R 130 C Disease 130 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002741 A 22 D Unclassified 21 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002742 A 22 P Unclassified 21 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002743 G 23 D Unclassified 22 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002744 E 24 G Unclassified 23 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002745 E 24 K Unclassified 23 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002746 Y 25 H Unclassified 24 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002747 A 27 E Unclassified 26 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_025387 A 27 V Unclassified 26 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002748 E 28 D Unclassified 27 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002749 E 28 G Unclassified 27 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002750 E 28 V Unclassified 27 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002751 E 31 K Unclassified 30 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_025002 R 32 K Unclassified 31 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002752 R 32 S Unclassified 31 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002753 L 35 R Unclassified 34 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002754 P 38 R Unclassified 37 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002756 K 41 M Unclassified 40 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002757 T 42 S Unclassified 41 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002758 F 44 L Unclassified 43 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002759 P 45 L Unclassified 44 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002760 P 45 R Unclassified 44 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002761 H 46 Q Unclassified 45 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002762 H 46 R Unclassified 45 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002763 D 48 A Unclassified 47 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002764 D 48 G Unclassified 47 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002765 D 48 H Unclassified 47 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002766 D 48 Y Unclassified 47 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002767 L 49 R Unclassified 48 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002768 S 50 R Unclassified 49 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002769 H 51 R Unclassified 50 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002770 G 52 D Unclassified 51 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002771 G 52 R Unclassified 51 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002772 A 54 D Unclassified 53 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002773 Q 55 R Unclassified 54 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002774 K 57 R Unclassified 56 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002775 K 57 T Unclassified 56 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002776 G 58 R Unclassified 57 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_025388 H 59 Q Unclassified 58 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002777 H 59 Y Unclassified 58 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002778 G 60 D Polymorphism 59 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002779 G 60 V Unclassified 59 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002780 K 61 N Polymorphism 60 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002782 K 62 N Unclassified 61 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002783 K 62 T Unclassified 61 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002784 V 63 M Unclassified 62 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002785 A 64 D Unclassified 63 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002786 D 65 Y Unclassified 64 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002787 N 69 K Polymorphism 68 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002788 A 72 E Unclassified 71 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002789 A 72 V Unclassified 71 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002790 H 73 R Unclassified 72 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002791 D 75 A Unclassified 74 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002792 D 75 G Unclassified 74 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002793 D 75 N Unclassified 74 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002794 D 76 A Unclassified 75 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002795 D 76 H Unclassified 75 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002796 M 77 K Unclassified 76 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002797 M 77 T Unclassified 76 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002798 P 78 R Unclassified 77 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002799 N 79 H Unclassified 78 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002800 N 79 K Unclassified 78 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_012662 A 80 G Unclassified 79 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002801 L 81 R Unclassified 80 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002802 S 82 C Unclassified 81 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002803 A 83 D Unclassified 82 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002804 S 85 R Unclassified 84 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002805 D 86 V Unclassified 85 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002806 D 86 Y Unclassified 85 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002807 L 87 R Unclassified 86 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002808 H 88 N Unclassified 87 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002809 H 88 R Unclassified 87 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002810 A 89 S Unclassified 88 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002811 K 91 M Unclassified 90 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002812 L 92 P Polymorphism 91 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002813 R 93 Q Unclassified 92 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_020775 R 93 W Unclassified 92 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_025389 D 95 A Unclassified 94 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002814 D 95 Y Unclassified 94 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002815 P 96 A Unclassified 95 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002816 P 96 T Unclassified 95 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002817 N 98 K Unclassified 97 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002818 K 100 E Unclassified 99 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002819 S 103 R Unclassified 102 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002820 H 104 R Unclassified 103 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_025390 H 104 Y Unclassified 103 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002821 L 110 R Unclassified 109 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002822 A 111 D Unclassified 110 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002823 H 113 D Unclassified 112 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002824 L 114 H Unclassified 113 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002825 P 115 L Unclassified 114 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002826 P 115 R Unclassified 114 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002827 P 115 S Unclassified 114 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002828 A 116 D Unclassified 115 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002829 E 117 A Unclassified 116 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002833 A 121 E Unclassified 120 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002834 V 122 M Unclassified 121 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002835 H 123 Q Unclassified 122 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002836 L 126 P Unclassified 125 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_025391 L 126 R Unclassified 125 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_025392 D 127 G Unclassified 126 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002837 D 127 V Unclassified 126 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002838 D 127 Y Unclassified 126 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002839 K 128 N Unclassified 127 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002840 L 130 P Unclassified 129 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002842 A 131 D Unclassified 130 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002841 A 131 P Unclassified 130 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002843 S 132 P Unclassified 131 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002844 S 134 R Unclassified 133 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002845 V 136 E Unclassified 135 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002846 L 137 M Unclassified 136 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002847 L 137 P Unclassified 136 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002848 S 139 P Unclassified 138 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002849 K 140 E Unclassified 139 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002850 K 140 T Unclassified 139 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002851 Y 141 H Unclassified 140 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002852 R 142 C Unclassified 141 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002854 R 142 H Unclassified 141 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002853 R 142 L Unclassified 141 1A00 A 1 HBA1 HBA_HUMAN P69905 VAR_002855 R 142 P Unclassified 141 1A6Z A 4 HFE HFE_HUMAN Q30201 VAR_008111 V 53 M Polymorphism 31 1A6Z A 4 HFE HFE_HUMAN Q30201 VAR_008112 V 59 M Polymorphism 37 1A6Z A 4 HFE HFE_HUMAN Q30201 VAR_004396 H 63 D Disease 41 1A6Z A 4 HFE HFE_HUMAN Q30201 VAR_004396 H 63 D Disease 41 1A6Z A 4 HFE HFE_HUMAN Q30201 VAR_004396 H 63 D Disease 41 1A6Z A 4 HFE HFE_HUMAN Q30201 VAR_004397 S 65 C Disease 43 1A6Z A 4 HFE HFE_HUMAN Q30201 VAR_008729 G 93 R Disease 71 1A6Z A 4 HFE HFE_HUMAN Q30201 VAR_008730 I 105 T Disease 83 1A6Z A 4 HFE HFE_HUMAN Q30201 VAR_008113 Q 127 H Disease 105 1A6Z A 4 HFE HFE_HUMAN Q30201 VAR_008113 Q 127 H Disease 105 1A6Z A 4 HFE HFE_HUMAN Q30201 VAR_020270 T 217 I Polymorphism 195 1A6Z A 4 HFE HFE_HUMAN Q30201 VAR_008731 E 277 K Polymorphism 255 1BHT A 35 HGF HGF_HUMAN P14210 VAR_014570 S 153 I Polymorphism 153 1CZA N 16 HK1 HXK1_HUMAN P19367 VAR_009878 L 529 S Disease 529 1CZA N 16 HK1 HXK1_HUMAN P19367 VAR_023780 T 680 S Disease 680 1CZA N 16 HK1 HXK1_HUMAN P19367 VAR_023781 L 776 M Polymorphism 776 1AKJ A 1 HLA-A 1A02_HUMAN P01892 VAR_004335 D 54 N Polymorphism 30 1AKJ A 1 HLA-A 1A02_HUMAN P01892 VAR_004336 Q 67 R Polymorphism 43 1AKJ A 1 HLA-A 1A02_HUMAN P01892 VAR_004337 K 90 N Polymorphism 66 1AKJ A 1 HLA-A 1A02_HUMAN P01892 VAR_016727 H 94 Q Polymorphism 70 1AKJ A 1 HLA-A 1A02_HUMAN P01892 VAR_004338 T 97 I Polymorphism 73 1AKJ A 1 HLA-A 1A02_HUMAN P01892 VAR_016728 H 98 D Polymorphism 74 1AKJ A 1 HLA-A 1A02_HUMAN P01892 VAR_004339 V 119 L Polymorphism 95 1AKJ A 1 HLA-A 1A02_HUMAN P01892 VAR_004340 R 121 M Polymorphism 97 1AKJ A 1 HLA-A 1A02_HUMAN P01892 VAR_004341 Y 123 C Polymorphism 99 1AKJ A 1 HLA-A 1A02_HUMAN P01892 VAR_004342 Y 123 F Polymorphism 99 1AKJ A 1 HLA-A 1A02_HUMAN P01892 VAR_004343 W 131 G Polymorphism 107 1AKJ A 1 HLA-A 1A02_HUMAN P01892 VAR_004344 M 162 K Polymorphism 138 1AKJ A 1 HLA-A 1A02_HUMAN P01892 VAR_004345 A 173 T Polymorphism 149 1AKJ A 1 HLA-A 1A02_HUMAN P01892 VAR_004346 V 176 E Polymorphism 152 1AKJ A 1 HLA-A 1A02_HUMAN P01892 VAR_004348 L 180 Q Polymorphism 156 1AKJ A 1 HLA-A 1A02_HUMAN P01892 VAR_004347 L 180 W Polymorphism 156 1AKJ A 1 HLA-A 1A02_HUMAN P01892 VAR_004349 T 187 E Polymorphism 163 1AKJ A 1 HLA-A 1A02_HUMAN P01892 VAR_016729 E 190 D Polymorphism 166 1AKJ A 1 HLA-A 1A02_HUMAN P01892 VAR_016730 W 191 G Polymorphism 167 1AKJ A 1 HLA-A 1A02_HUMAN P01892 VAR_004350 A 260 E Polymorphism 236 1Q94 A 1 HLA-A 1A11_HUMAN P13746 VAR_016731 F 133 L Polymorphism 109 1Q94 A 1 HLA-A 1A11_HUMAN P13746 VAR_016732 K 168 E Polymorphism 144 1Q94 A 1 HLA-A 1A11_HUMAN P13746 VAR_016733 H 175 R Polymorphism 151 1Q94 A 1 HLA-A 1A11_HUMAN P13746 VAR_016734 A 176 E Polymorphism 152 1Q94 A 1 HLA-A 1A11_HUMAN P13746 VAR_016735 R 187 T Polymorphism 163 2BCK A 1 HLA-A 1A24_HUMAN P05534 VAR_004356 E 86 G Polymorphism 62 2BCK A 1 HLA-A 1A24_HUMAN P05534 VAR_004357 G 89 R Polymorphism 65 2BCK A 1 HLA-A 1A24_HUMAN P05534 VAR_015765 L 119 V Polymorphism 95 2BCK A 1 HLA-A 1A24_HUMAN P05534 VAR_015766 M 121 R Polymorphism 97 2BCK A 1 HLA-A 1A24_HUMAN P05534 VAR_015767 F 123 Y Polymorphism 99 2BCK A 1 HLA-A 1A24_HUMAN P05534 VAR_015768 G 131 W Polymorphism 107 2BCK A 1 HLA-A 1A24_HUMAN P05534 VAR_015769 Q 180 L Polymorphism 156 2BCK A 1 HLA-A 1A24_HUMAN P05534 VAR_004358 Q 180 W Polymorphism 156 2BCK A 1 HLA-A 1A24_HUMAN P05534 VAR_015770 T 187 R Polymorphism 163 2BCK A 1 HLA-A 1A24_HUMAN P05534 VAR_004360 T 206 A Polymorphism 182 1HSB A 1 HLA-A 1A68_HUMAN P01891 VAR_010363 Q 94 H Polymorphism 70 1HSB A 1 HLA-A 1A68_HUMAN P01891 VAR_010364 T 97 I Polymorphism 73 1HSB A 1 HLA-A 1A68_HUMAN P01891 VAR_010365 D 98 H Polymorphism 74 1HSB A 1 HLA-A 1A68_HUMAN P01891 VAR_004390 M 121 R Polymorphism 97 1HSB A 1 HLA-A 1A68_HUMAN P01891 VAR_004391 S 129 P Polymorphism 105 1HSB A 1 HLA-A 1A68_HUMAN P01891 VAR_010366 R 138 E Polymorphism 114 1HSB A 1 HLA-A 1A68_HUMAN P01891 VAR_004392 R 138 H Polymorphism 114 1HSB A 1 HLA-A 1A68_HUMAN P01891 VAR_010367 D 140 H Polymorphism 116 1HSB A 1 HLA-A 1A68_HUMAN P01891 VAR_010368 D 140 V Polymorphism 116 1HSB A 1 HLA-A 1A68_HUMAN P01891 VAR_004393 D 140 Y Polymorphism 116 1HSB A 1 HLA-A 1A68_HUMAN P01891 VAR_010369 H 175 L Polymorphism 151 1HSB A 1 HLA-A 1A68_HUMAN P01891 VAR_010370 W 180 L Polymorphism 156 1HSB A 1 HLA-A 1A68_HUMAN P01891 VAR_010371 W 180 Q Polymorphism 156 1AGB A 1 HLA-B 1B08_HUMAN P30460 VAR_016502 N 87 D Polymorphism 63 1AGB A 1 HLA-B 1B08_HUMAN P30460 VAR_016503 F 91 S Polymorphism 67 1AGB A 1 HLA-B 1B08_HUMAN P30460 VAR_016504 S 101 N Polymorphism 77 1AGB A 1 HLA-B 1B08_HUMAN P30460 VAR_016505 L 119 W Polymorphism 95 1AGB A 1 HLA-B 1B08_HUMAN P30460 VAR_016506 S 121 R Polymorphism 97 1AGB A 1 HLA-B 1B08_HUMAN P30460 VAR_016507 S 121 T Polymorphism 97 1AGB A 1 HLA-B 1B08_HUMAN P30460 VAR_016508 N 138 D Polymorphism 114 1AGB A 1 HLA-B 1B08_HUMAN P30460 VAR_016520 Y 140 D Polymorphism 116 1AGB A 1 HLA-B 1B08_HUMAN P30460 VAR_016509 V 176 E Polymorphism 152 1AGB A 1 HLA-B 1B08_HUMAN P30460 VAR_016510 D 180 L Polymorphism 156 1AGB A 1 HLA-B 1B08_HUMAN P30460 VAR_016511 D 180 R Polymorphism 156 1HSA A 1 HLA-B 1B27_HUMAN P03989 VAR_016379 Y 83 H Polymorphism 59 1HSA A 1 HLA-B 1B27_HUMAN P03989 VAR_016380 D 101 N Polymorphism 77 1HSA A 1 HLA-B 1B27_HUMAN P03989 VAR_016381 D 101 S Polymorphism 77 1HSA A 1 HLA-B 1B27_HUMAN P03989 VAR_016383 T 104 N Polymorphism 80 1HSA A 1 HLA-B 1B27_HUMAN P03989 VAR_016385 N 121 S Polymorphism 97 1HSA A 1 HLA-B 1B27_HUMAN P03989 VAR_016387 H 138 D Polymorphism 114 1HSA A 1 HLA-B 1B27_HUMAN P03989 VAR_016388 D 140 H Polymorphism 116 1HSA A 1 HLA-B 1B27_HUMAN P03989 VAR_016389 D 140 Y Polymorphism 116 1HSA A 1 HLA-B 1B27_HUMAN P03989 VAR_016390 S 155 R Polymorphism 131 1HSA A 1 HLA-B 1B27_HUMAN P03989 VAR_016391 V 176 E Polymorphism 152 1HSA A 1 HLA-B 1B27_HUMAN P03989 VAR_016392 A 235 G Polymorphism 211 1A1N A 1 HLA-B 1B35_HUMAN P30685 VAR_016394 A 48 S Polymorphism 24 1A1N A 1 HLA-B 1B35_HUMAN P30685 VAR_016398 Y 98 D Polymorphism 74 1A1N A 1 HLA-B 1B35_HUMAN P30685 VAR_016399 G 107 D Polymorphism 83 1A1N A 1 HLA-B 1B35_HUMAN P30685 VAR_016401 R 121 S Polymorphism 97 1A1N A 1 HLA-B 1B35_HUMAN P30685 VAR_016402 L 127 V Polymorphism 103 1A1N A 1 HLA-B 1B35_HUMAN P30685 VAR_016403 L 133 F Polymorphism 109 1A1N A 1 HLA-B 1B35_HUMAN P30685 VAR_016404 D 138 N Polymorphism 114 1A1N A 1 HLA-B 1B35_HUMAN P30685 VAR_016405 S 140 F Polymorphism 116 1A1N A 1 HLA-B 1B35_HUMAN P30685 VAR_016406 S 140 Y Polymorphism 116 1A1N A 1 HLA-B 1B35_HUMAN P30685 VAR_016407 L 180 R Polymorphism 156 1M6O A 1 HLA-B 1B44_HUMAN P30481 VAR_016463 D 85 E Polymorphism 61 1M6O A 1 HLA-B 1B44_HUMAN P30481 VAR_016464 E 87 N Polymorphism 63 1M6O A 1 HLA-B 1B44_HUMAN P30481 VAR_016465 N 101 S Polymorphism 77 1M6O A 1 HLA-B 1B44_HUMAN P30481 VAR_016467 D 140 Y Polymorphism 116 1M6O A 1 HLA-B 1B44_HUMAN P30481 VAR_016468 D 180 L Polymorphism 156 1M6O A 1 HLA-B 1B44_HUMAN P30481 VAR_016469 D 180 R Polymorphism 156 1M6O A 1 HLA-B 1B44_HUMAN P30481 VAR_016470 L 187 T Polymorphism 163 1.00E+27 A 1 HLA-B 1B51_HUMAN P18464 VAR_017442 S 155 R Polymorphism 131 1.00E+27 A 1 HLA-B 1B51_HUMAN P18464 VAR_016479 E 176 V Polymorphism 152 1.00E+27 A 1 HLA-B 1B51_HUMAN P18464 VAR_016480 L 180 D Polymorphism 156 1.00E+27 A 1 HLA-B 1B51_HUMAN P18464 VAR_016481 W 191 G Polymorphism 167 1.00E+27 A 1 HLA-B 1B51_HUMAN P18464 VAR_016482 H 195 Y Polymorphism 171 1A1M A 1 HLA-B 1B53_HUMAN P30491 VAR_016524 N 101 D Polymorphism 77 1A1M A 1 HLA-B 1B53_HUMAN P30491 VAR_016525 N 101 S Polymorphism 77 1A1M A 1 HLA-B 1B53_HUMAN P30491 VAR_016527 I 118 T Polymorphism 94 1A1M A 1 HLA-B 1B53_HUMAN P30491 VAR_016528 Y 123 S Polymorphism 99 1A1M A 1 HLA-B 1B53_HUMAN P30491 VAR_016529 L 127 V Polymorphism 103 1A1M A 1 HLA-B 1B53_HUMAN P30491 VAR_016531 S 140 F Polymorphism 116 1A1M A 1 HLA-B 1B53_HUMAN P30491 VAR_016532 V 176 E Polymorphism 152 1A1M A 1 HLA-B 1B53_HUMAN P30491 VAR_016533 Y 195 H Polymorphism 171 2BVO A 1 HLA-B 1B57_HUMAN P18465 VAR_016497 L 180 R Polymorphism 156 1EFX A 1 HLA-C 1C03_HUMAN P04222 VAR_016569 K 90 N Polymorphism 66 1EFX A 1 HLA-C 1C03_HUMAN P04222 VAR_016565 S 101 N Polymorphism 77 1EFX A 1 HLA-C 1C03_HUMAN P04222 VAR_016566 N 104 K Polymorphism 80 1EFX A 1 HLA-C 1C03_HUMAN P04222 VAR_016563 G 115 R Polymorphism 91 1EFX A 1 HLA-C 1C03_HUMAN P04222 VAR_016564 I 118 T Polymorphism 94 1EFX A 1 HLA-C 1C03_HUMAN P04222 VAR_016567 I 119 L Polymorphism 95 1EFX A 1 HLA-C 1C03_HUMAN P04222 VAR_016617 R 121 S Polymorphism 97 1EFX A 1 HLA-C 1C03_HUMAN P04222 VAR_016618 V 127 L Polymorphism 103 1EFX A 1 HLA-C 1C03_HUMAN P04222 VAR_016619 D 138 V Polymorphism 114 1EFX A 1 HLA-C 1C03_HUMAN P04222 VAR_016568 Y 140 S Polymorphism 116 1IM9 A 1 HLA-C 1C04_HUMAN P30504 VAR_016575 R 45 H Polymorphism 21 1IM9 A 1 HLA-C 1C04_HUMAN P30504 VAR_016576 V 52 L Polymorphism 28 1IM9 A 1 HLA-C 1C04_HUMAN P30504 VAR_016577 E 73 A Polymorphism 49 1IM9 A 1 HLA-C 1C04_HUMAN P30504 VAR_016578 R 180 L Polymorphism 156 1HDM A 13 HLA-DMA 2DMA_HUMAN P28067 VAR_016746 H 162 Q Polymorphism 133 1HDM A 13 HLA-DMA 2DMA_HUMAN P28067 VAR_016747 D 163 H Polymorphism 134 1HDM A 13 HLA-DMA 2DMA_HUMAN P28067 VAR_016748 V 166 I Polymorphism 137 1HDM A 13 HLA-DMA 2DMA_HUMAN P28067 VAR_016749 G 181 A Polymorphism 152 1DQ9 A 461 HMGCR HMDH_HUMAN P04035 VAR_011954 I 638 V Polymorphism 638 1N3U A 10 HMOX1 HMOX1_HUMAN P09601 VAR_022156 P 106 L Polymorphism 106 1PGZ A 8 HNRPA1 ROA1_HUMAN P09651 VAR_014711 N 73 S Polymorphism 73 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006756 L 41 P Disease 40 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006757 I 42 F Disease 41 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006758 I 42 T Disease 41 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006760 R 45 K Disease 44 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006761 R 48 H Disease 47 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006763 A 50 P Disease 49 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006762 A 50 V Disease 49 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006764 R 51 G Disease 50 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006765 R 51 P Disease 50 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006766 D 52 G Unclassified 51 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006767 V 53 A Disease 52 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006768 V 53 M Disease 52 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006769 M 54 L Disease 53 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006770 M 57 T Disease 56 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006771 G 58 R Disease 57 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006772 H 61 R Unclassified 60 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006773 G 70 E Disease 69 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006774 G 71 R Disease 70 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006775 F 74 L Disease 73 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006776 L 78 V Disease 77 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006777 D 80 V Disease 79 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006778 S 104 R Disease 103 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006779 S 110 L Disease 109 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006780 V 130 D Disease 129 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006781 L 131 S Disease 130 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006782 I 132 M Disease 131 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006783 I 132 T Disease 131 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006784 D 135 G Disease 134 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006785 M 143 K Disease 142 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006787 A 161 S Disease 160 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006788 S 162 R Disease 161 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006789 T 168 I Disease 167 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006790 P 176 L Disease 175 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006791 D 177 V Disease 176 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006792 D 177 Y Disease 176 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006796 I 183 T Disease 182 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006795 V 188 A Unclassified 187 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006797 D 194 E Disease 193 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006798 D 194 N Disease 193 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006799 Y 195 C Disease 194 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006800 F 199 V Disease 198 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006801 D 201 G Disease 200 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006802 D 201 N Disease 200 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006803 D 201 Y Disease 200 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006804 H 204 D Disease 203 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006805 H 204 R Disease 203 1BZY A 4 HPRT1 HPRT_HUMAN P00492 VAR_006806 C 206 Y Disease 205 121P @ 1 HRAS RASH_HUMAN P01112 VAR_026106 G 12 A Disease 12 121P @ 1 HRAS RASH_HUMAN P01112 VAR_006837 G 12 S Disease 12 121P @ 1 HRAS RASH_HUMAN P01112 VAR_006837 G 12 S Disease 12 121P @ 1 HRAS RASH_HUMAN P01112 VAR_006836 G 12 V Disease 12 121P @ 1 HRAS RASH_HUMAN P01112 VAR_026107 G 13 C Disease 13 121P @ 1 HRAS RASH_HUMAN P01112 VAR_026108 G 13 D Disease 13 121P @ 1 HRAS RASH_HUMAN P01112 VAR_006838 Q 61 L Disease 61 1A27 @ 1 HSD17B1 DHB1_HUMAN P14061 VAR_006951 A 238 V Polymorphism 237 2BKA A 5 HTATIP2 TIP30_HUMAN Q9BUP3 VAR_023713 R 106 S Disease 106 2BKA A 5 HTATIP2 TIP30_HUMAN Q9BUP3 VAR_023714 D 108 Y Disease 108 2BKA A 5 HTATIP2 TIP30_HUMAN Q9BUP3 VAR_023715 A 116 T Disease 116 2BKA A 5 HTATIP2 TIP30_HUMAN Q9BUP3 VAR_023716 G 134 V Disease 134 2BKA A 5 HTATIP2 TIP30_HUMAN Q9BUP3 VAR_023717 L 144 I Disease 144 1D3L A 1 ICAM1 ICAM1_HUMAN P05362 VAR_010204 K 56 M Polymorphism 29 1D3L A 1 ICAM1 ICAM1_HUMAN P05362 VAR_014651 K 155 N Polymorphism 128 1GP0 A 1515 IGF2R MPRI_HUMAN P11717 VAR_021312 G 1619 R Polymorphism 1619 1OW0 A 242 IGHA1 IGHA1_HUMAN P01876 VAR_014602 E 176 D Polymorphism 295 1MIM L 1 IGKC KAC_HUMAN P01834 VAR_003897 V 83 L Unclassified 188 1AQK L 2 IGLC1 LAC_HUMAN P01842 VAR_003898 A 5 N Unclassified 116 1AQK L 2 IGLC1 LAC_HUMAN P01842 VAR_003899 S 7 T Unclassified 118 1G0Y R 6 IL1R1 IL1R1_HUMAN P14778 VAR_019131 A 124 G Polymorphism 107 1M4R A 38 IL22 IL22_HUMAN Q9GZX6 VAR_013078 S 158 G Polymorphism 158 1IRK @ 981 INSR INSR_HUMAN P06213 VAR_004093 G 1035 V Disease 1008 1IRK @ 981 INSR INSR_HUMAN P06213 VAR_015923 A 1055 V Disease 1028 1IRK @ 981 INSR INSR_HUMAN P06213 VAR_004094 A 1075 D Disease 1048 1IRK @ 981 INSR INSR_HUMAN P06213 VAR_015924 K 1095 E Unclassified 1068 1IRK @ 981 INSR INSR_HUMAN P06213 VAR_015925 R 1119 W Disease 1092 1IRK @ 981 INSR INSR_HUMAN P06213 VAR_015926 I 1143 T Disease 1116 1IRK @ 981 INSR INSR_HUMAN P06213 VAR_015927 R 1158 Q Disease 1131 1IRK @ 981 INSR INSR_HUMAN P06213 VAR_015928 R 1158 W Disease 1131 1IRK @ 981 INSR INSR_HUMAN P06213 VAR_004095 A 1161 T Disease 1134 1IRK @ 981 INSR INSR_HUMAN P06213 VAR_004096 A 1162 E Disease 1135 1IRK @ 981 INSR INSR_HUMAN P06213 VAR_004097 M 1180 I Disease 1153 1IRK @ 981 INSR INSR_HUMAN P06213 VAR_004098 R 1191 Q Disease 1164 1IRK @ 981 INSR INSR_HUMAN P06213 VAR_015929 R 1201 Q Disease 1174 1IRK @ 981 INSR INSR_HUMAN P06213 VAR_015929 R 1201 Q Disease 1174 1IRK @ 981 INSR INSR_HUMAN P06213 VAR_015930 R 1201 W Disease 1174 1IRK @ 981 INSR INSR_HUMAN P06213 VAR_015930 R 1201 W Disease 1174 1IRK @ 981 INSR INSR_HUMAN P06213 VAR_004099 P 1205 L Disease 1178 1IRK @ 981 INSR INSR_HUMAN P06213 VAR_015931 E 1206 D Disease 1179 1IRK @ 981 INSR INSR_HUMAN P06213 VAR_015932 E 1206 K Disease 1179 1IRK @ 981 INSR INSR_HUMAN P06213 VAR_004100 W 1220 L Disease 1193 1IRK @ 981 INSR INSR_HUMAN P06213 VAR_004101 W 1227 S Disease 1200 1QWT A 189 IRF3 IRF3_HUMAN Q14653 VAR_011902 E 377 K Polymorphism 377 1TXV A 1 ITGA2B ITA2B_HUMAN P08514 VAR_009885 P 176 A Disease 145 1TXV A 1 ITGA2B ITA2B_HUMAN P08514 VAR_009886 P 176 L Disease 145 1TXV A 1 ITGA2B ITA2B_HUMAN P08514 VAR_003979 G 273 D Disease 242 1TXV A 1 ITGA2B ITA2B_HUMAN P08514 VAR_009887 F 320 S Disease 289 1TXV A 1 ITGA2B ITA2B_HUMAN P08514 VAR_009888 E 355 K Disease 324 1TXV A 1 ITGA2B ITA2B_HUMAN P08514 VAR_003980 R 358 H Disease 327 1TXV A 1 ITGA2B ITA2B_HUMAN P08514 VAR_003981 G 449 D Disease 418 1IVH A 6 IVD IVD_HUMAN P26440 VAR_015961 D 69 N Disease 40 1IVH A 6 IVD IVD_HUMAN P26440 VAR_000424 G 199 V Disease 170 1IVH A 6 IVD IVD_HUMAN P26440 VAR_015962 A 311 V Disease 282 1IVH A 6 IVD IVD_HUMAN P26440 VAR_015963 C 357 R Disease 328 1IVH A 6 IVD IVD_HUMAN P26440 VAR_015964 V 371 A Disease 342 1IVH A 6 IVD IVD_HUMAN P26440 VAR_015965 R 392 C Disease 363 1ZLG A 24 KAL1 KALM_HUMAN P23352 VAR_007720 N 267 K Disease 267 1ZLG A 24 KAL1 KALM_HUMAN P23352 VAR_012742 E 514 K Disease 514 1ZLG A 24 KAL1 KALM_HUMAN P23352 VAR_007721 I 534 V Polymorphism 534 1BYW A 26 KCNH2 KCNH2_HUMAN Q12809 VAR_009909 G 47 V Disease 47 1B6U @ 5 KIR2DL3 KI2L3_HUMAN P43628 VAR_010315 Q 56 E Polymorphism 35 1B6U @ 5 KIR2DL3 KI2L3_HUMAN P43628 VAR_010316 H 71 R Polymorphism 50 1A4V @ 1 LALBA LALBA_HUMAN P00709 VAR_024526 I 46 V Polymorphism 27 1I0Z A 1 LDHB LDHB_HUMAN P07195 VAR_004174 A 35 E Unclassified 34 1I0Z A 1 LDHB LDHB_HUMAN P07195 VAR_011634 G 69 E Unclassified 68 1I0Z A 1 LDHB LDHB_HUMAN P07195 VAR_011635 R 107 W Unclassified 106 1I0Z A 1 LDHB LDHB_HUMAN P07195 VAR_004175 S 129 R Unclassified 128 1I0Z A 1 LDHB LDHB_HUMAN P07195 VAR_004176 F 171 V Unclassified 170 1I0Z A 1 LDHB LDHB_HUMAN P07195 VAR_004177 R 172 H Unclassified 171 1I0Z A 1 LDHB LDHB_HUMAN P07195 VAR_011636 R 172 P Unclassified 171 1I0Z A 1 LDHB LDHB_HUMAN P07195 VAR_004178 M 175 L Unclassified 174 1IFR A 432 LMNA LMNA_HUMAN P02545 VAR_009989 G 465 D Disease 465 1IFR A 432 LMNA LMNA_HUMAN P02545 VAR_009990 I 469 T Unclassified 469 1IFR A 432 LMNA LMNA_HUMAN P02545 VAR_017662 R 471 C Disease 471 1IFR A 432 LMNA LMNA_HUMAN P02545 VAR_009991 R 482 L Disease 482 1IFR A 432 LMNA LMNA_HUMAN P02545 VAR_009992 R 482 Q Disease 482 1IFR A 432 LMNA LMNA_HUMAN P02545 VAR_009993 R 482 W Disease 482 1IFR A 432 LMNA LMNA_HUMAN P02545 VAR_009994 K 486 N Disease 486 2FCW A 215 LRPAP1 AMRP_HUMAN P30533 VAR_011821 V 311 M Polymorphism 277 1W6J A 6 LSS ERG7_HUMAN P48449 VAR_024648 R 175 Q Polymorphism 175 1W6J A 6 LSS ERG7_HUMAN P48449 VAR_021522 L 642 V Polymorphism 642 1TNR A 28 LTA TNFB_HUMAN P01374 VAR_007512 T 125 P Polymorphism 91 1B0L A 1 LTF TRFL_HUMAN P02788 VAR_013506 I 148 T Polymorphism 129 1B0L A 1 LTF TRFL_HUMAN P02788 VAR_013507 G 422 C Polymorphism 403 1B0L A 1 LTF TRFL_HUMAN P02788 VAR_013508 E 579 D Polymorphism 560 133L @ 1 LYZ LYSC_HUMAN P61626 VAR_004280 I 74 T Disease 56 133L @ 1 LYZ LYSC_HUMAN P61626 VAR_004281 D 85 H Disease 67 133L @ 1 LYZ LYSC_HUMAN P61626 VAR_012050 T 88 N Polymorphism 70 1SZB A 2 MASP2 MASP2_HUMAN O00187 VAR_025344 R 99 Q Unclassified 84 1SZB A 2 MASP2 MASP2_HUMAN O00187 VAR_025345 R 118 C Unclassified 103 1SZB A 2 MASP2 MASP2_HUMAN O00187 VAR_025346 D 120 G Unclassified 105 1SZB A 2 MASP2 MASP2_HUMAN O00187 VAR_025347 P 126 L Unclassified 111 1SZB A 2 MASP2 MASP2_HUMAN O00187 VAR_028784 H 155 R Polymorphism 140 2MM1 @ 1 MB MYG_HUMAN P02144 VAR_003181 K 134 N Polymorphism 133 2MM1 @ 1 MB MYG_HUMAN P02144 VAR_003182 R 140 Q Polymorphism 139 2MM1 @ 1 MB MYG_HUMAN P02144 VAR_003183 R 140 W Polymorphism 139 1CGE @ 102 MMP1 MMP1_HUMAN P03956 VAR_021024 I 191 V Polymorphism 191 1BQQ M 114 MMP14 MMP14_HUMAN P50281 VAR_021032 I 233 V Polymorphism 233 1A85 A 85 MMP8 MMP8_HUMAN P22894 VAR_025038 G 154 E Polymorphism 134 1A85 A 85 MMP8 MMP8_HUMAN P22894 VAR_025039 D 193 V Polymorphism 173 1ITV A 1 MMP9 MMP9_HUMAN P14780 VAR_025166 F 571 V Polymorphism 59 1ITV A 1 MMP9 MMP9_HUMAN P14780 VAR_024595 P 574 R Polymorphism 62 1NG2 A 157 NCF1 NCF1_HUMAN P14598 VAR_018476 K 258 E Polymorphism 258 1NG2 A 157 NCF1 NCF1_HUMAN P14598 VAR_012479 G 262 S Polymorphism 262 1NG2 A 157 NCF1 NCF1_HUMAN P14598 VAR_012480 A 308 V Polymorphism 308 1OLL A 1 NCR1 NCTR1_HUMAN O76036 VAR_018633 K 82 Q Polymorphism 58 1HKF A 5 NCR2 NCTR2_HUMAN O95944 VAR_018634 M 75 V Polymorphism 57 1H4R A 20 NF2 MERL_HUMAN P35240 VAR_000809 L 46 R Unclassified 46 1H4R A 20 NF2 MERL_HUMAN P35240 VAR_000810 F 62 S Disease 62 1H4R A 20 NF2 MERL_HUMAN P35240 VAR_000811 K 79 E Unclassified 79 1H4R A 20 NF2 MERL_HUMAN P35240 VAR_000813 E 106 G Disease 106 1H4R A 20 NF2 MERL_HUMAN P35240 VAR_000814 L 117 I Unclassified 117 1H4R A 20 NF2 MERL_HUMAN P35240 VAR_000817 V 219 M Unclassified 219 1H4R A 20 NF2 MERL_HUMAN P35240 VAR_000818 N 220 Y Disease 220 1H4R A 20 NF2 MERL_HUMAN P35240 VAR_009123 L 234 R Disease 234 1H4R A 20 NF2 MERL_HUMAN P35240 VAR_000819 I 273 F Disease 273 1JXV A 4 NME1 NDKA_HUMAN P15531 VAR_004625 S 120 G Unclassified 120 1NSI A 83 NOS2A NOS2A_HUMAN P35228 VAR_024548 R 221 W Polymorphism 221 1M73 E 2 NP PNPH_HUMAN P00491 VAR_002244 E 89 K Disease 89 1M73 E 2 NP PNPH_HUMAN P00491 VAR_002245 D 128 G Disease 128 1M73 E 2 NP PNPH_HUMAN P00491 VAR_002246 A 174 P Disease 174 1M73 E 2 NP PNPH_HUMAN P00491 VAR_010653 Y 192 C Disease 192 1M73 E 2 NP PNPH_HUMAN P00491 VAR_002247 R 234 P Disease 234 1D4A A 1 NQO1 NQO1_HUMAN P15559 VAR_016170 R 139 W Polymorphism 138 1D4A A 1 NQO1 NQO1_HUMAN P15559 VAR_008384 P 187 S Polymorphism 186 1QR2 A 1 NQO2 NQO2_HUMAN P16083 VAR_021400 E 29 G Polymorphism 28 1QR2 A 1 NQO2 NQO2_HUMAN P16083 VAR_021401 F 47 L Polymorphism 46 1QR2 A 1 NQO2 NQO2_HUMAN P16083 VAR_021402 G 58 D Polymorphism 57 1QR2 A 1 NQO2 NQO2_HUMAN P16083 VAR_021403 V 184 A Polymorphism 183 1M2Z A 523 NR3C1 GCR_HUMAN P04150 VAR_015632 I 559 N Disease 559 1M2Z A 523 NR3C1 GCR_HUMAN P04150 VAR_025014 V 571 A Unclassified 571 1M2Z A 523 NR3C1 GCR_HUMAN P04150 VAR_004676 D 641 V Disease 641 1M2Z A 523 NR3C1 GCR_HUMAN P04150 VAR_013473 G 679 S Disease 679 1M2Z A 523 NR3C1 GCR_HUMAN P04150 VAR_004677 V 729 I Disease 729 1M2Z A 523 NR3C1 GCR_HUMAN P04150 VAR_015633 I 747 M Disease 747 1M2Z A 523 NR3C1 GCR_HUMAN P04150 VAR_004678 L 753 F Disease 753 2A3I A 732 NR3C2 MCR_HUMAN P08235 VAR_015627 L 924 P Disease 924 2CN1 A 14 NT5C3 5NT3_HUMAN Q9H0P0 VAR_023511 D 137 V Disease 87 2CN1 A 14 NT5C3 5NT3_HUMAN Q9H0P0 VAR_023512 L 181 P Disease 131 2CN1 A 14 NT5C3 5NT3_HUMAN Q9H0P0 VAR_023513 N 229 S Disease 179 2CN1 A 14 NT5C3 5NT3_HUMAN Q9H0P0 VAR_023514 G 280 R Disease 230 1WWB X 283 NTRK2 NTRK2_HUMAN Q16620 VAR_016320 G 309 R Polymorphism 309 1WWB X 283 NTRK2 NTRK2_HUMAN Q16620 VAR_011973 N 338 Y Polymorphism 338 1GBN A 38 OAT OAT_HUMAN P04181 VAR_000567 N 89 K Disease 89 1GBN A 38 OAT OAT_HUMAN P04181 VAR_015648 Q 90 E Disease 90 1GBN A 38 OAT OAT_HUMAN P04181 VAR_000568 C 93 F Disease 93 1GBN A 38 OAT OAT_HUMAN P04181 VAR_000569 R 154 L Disease 154 1GBN A 38 OAT OAT_HUMAN P04181 VAR_000570 R 180 T Disease 180 1GBN A 38 OAT OAT_HUMAN P04181 VAR_000572 A 226 V Disease 226 1GBN A 38 OAT OAT_HUMAN P04181 VAR_000573 P 241 L Disease 241 1GBN A 38 OAT OAT_HUMAN P04181 VAR_000574 Y 245 C Disease 245 1GBN A 38 OAT OAT_HUMAN P04181 VAR_000575 R 250 P Disease 250 1GBN A 38 OAT OAT_HUMAN P04181 VAR_000576 T 267 I Disease 267 1GBN A 38 OAT OAT_HUMAN P04181 VAR_000577 A 270 P Disease 270 1GBN A 38 OAT OAT_HUMAN P04181 VAR_000578 R 271 K Disease 271 1GBN A 38 OAT OAT_HUMAN P04181 VAR_000579 H 319 Y Disease 319 1GBN A 38 OAT OAT_HUMAN P04181 VAR_000580 V 332 M Disease 332 1GBN A 38 OAT OAT_HUMAN P04181 VAR_000581 G 353 D Disease 353 1GBN A 38 OAT OAT_HUMAN P04181 VAR_000582 G 375 A Disease 375 1GBN A 38 OAT OAT_HUMAN P04181 VAR_000583 C 394 R Disease 394 1GBN A 38 OAT OAT_HUMAN P04181 VAR_000584 L 402 P Disease 402 1GBN A 38 OAT OAT_HUMAN P04181 VAR_000585 P 417 L Disease 417 1GBN A 38 OAT OAT_HUMAN P04181 VAR_000586 L 437 F Polymorphism 437 1KO9 A 12 OGG1 OGG1_HUMAN O15527 VAR_009519 R 46 Q Disease 46 1KO9 A 12 OGG1 OGG1_HUMAN O15527 VAR_024832 A 85 S Disease 85 1KO9 A 12 OGG1 OGG1_HUMAN O15527 VAR_024833 R 131 Q Disease 131 1KO9 A 12 OGG1 OGG1_HUMAN O15527 VAR_009520 R 154 H Disease 154 1KO9 A 12 OGG1 OGG1_HUMAN O15527 VAR_014487 R 229 Q Polymorphism 229 1KO9 A 12 OGG1 OGG1_HUMAN O15527 VAR_024834 S 232 T Disease 232 1KO9 A 12 OGG1 OGG1_HUMAN O15527 VAR_018890 A 288 V Polymorphism 288 1YPO A 142 OLR1 OLR1_HUMAN P78380 VAR_023200 K 167 N Polymorphism 167 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004854 Y 55 D Disease 55 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004855 M 56 T Disease 56 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004856 S 60 L Disease 60 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004857 L 63 P Disease 63 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004858 G 79 E Disease 79 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004860 G 83 D Disease 83 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004861 G 83 R Disease 83 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004862 E 87 K Disease 87 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004863 K 88 N Disease 88 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004864 S 90 R Disease 90 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004865 R 92 Q Disease 92 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004866 T 93 A Disease 93 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004867 R 94 T Disease 94 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004868 G 100 D Disease 100 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004869 F 101 L Polymorphism 101 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004870 A 102 E Disease 102 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004871 L 111 P Polymorphism 111 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004872 H 117 L Disease 117 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004873 H 117 R Disease 117 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004874 T 125 M Disease 125 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004875 D 126 G Disease 126 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004876 R 129 H Disease 129 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004877 L 139 S Disease 139 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_010605 A 140 P Disease 140 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004878 R 141 P Disease 141 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004879 R 141 Q Disease 141 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004880 L 148 F Disease 148 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004881 I 159 T Disease 159 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_012651 I 160 S Disease 160 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004882 N 161 S Disease 161 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004883 G 162 R Disease 162 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004884 H 168 Q Disease 168 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004885 H 168 R Disease 168 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_009233 I 172 F Disease 172 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004886 I 172 M Disease 172 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004887 A 174 P Disease 174 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004888 D 175 V Disease 175 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004889 Y 176 C Disease 176 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004890 T 178 M Disease 178 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004892 Q 180 H Disease 180 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004893 E 181 G Disease 181 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004894 H 182 L Disease 182 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004895 Y 183 C Disease 183 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004896 Y 183 D Disease 183 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004897 G 188 R Disease 188 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_009234 G 188 V Disease 188 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_012652 L 191 F Disease 191 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004898 S 192 R Disease 192 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004899 G 195 R Disease 195 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004900 D 196 V Disease 196 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004901 D 196 Y Disease 196 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004902 G 197 E Disease 197 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_009235 G 197 R Disease 197 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_010606 N 198 K Disease 198 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004903 L 201 P Disease 201 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004904 H 202 Y Disease 202 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004905 S 203 C Disease 203 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_012653 M 206 I Disease 206 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004906 M 206 R Disease 206 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004907 S 207 R Disease 207 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004908 A 208 T Disease 208 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004909 A 209 V Disease 209 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004910 M 213 K Disease 213 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_010607 H 214 Y Disease 214 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004911 Q 216 E Disease 216 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004912 P 220 A Disease 220 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004913 P 225 L Disease 225 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004914 P 225 R Disease 225 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004915 P 225 T Disease 225 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004916 T 242 I Disease 242 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004917 L 244 Q Disease 244 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004918 T 247 K Disease 247 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_012654 L 301 F Disease 301 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004931 H 302 L Disease 302 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004932 H 302 Q Disease 302 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004933 H 302 Y Disease 302 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004934 C 303 R Disease 303 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004935 C 303 Y Disease 303 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004936 L 304 F Disease 304 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_012655 P 305 H Disease 305 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004938 R 320 L Disease 320 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_010610 E 326 K Disease 326 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004939 R 330 G Disease 330 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_012656 T 333 A Polymorphism 333 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004940 A 336 S Disease 336 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004941 V 337 L Disease 337 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004942 V 339 L Disease 339 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004943 S 340 P Disease 340 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_012657 L 341 P Disease 341 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004944 T 343 K Disease 343 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004946 Y 345 C Disease 345 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004947 Y 345 D Disease 345 1C9Y A 34 OTC OTC_HUMAN P00480 VAR_004948 F 354 C Disease 354 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000895 D 143 G Disease 143 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_011566 D 145 V Disease 145 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000896 H 146 Y Disease 146 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000897 G 148 S Disease 148 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000898 D 151 H Disease 151 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000899 Y 154 N Disease 154 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_009242 R 155 P Disease 155 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000900 R 157 N Disease 157 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000901 R 158 Q Disease 158 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000902 R 158 W Disease 158 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000903 Q 160 P Disease 160 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000904 F 161 S Disease 161 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000905 I 164 T Disease 164 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000906 N 167 I Disease 167 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_011567 N 167 S Disease 167 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_011568 R 169 H Disease 169 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_011569 H 170 D Disease 170 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000907 H 170 R Disease 170 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000908 G 171 A Disease 171 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000909 G 171 R Disease 171 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000910 P 173 T Disease 173 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000911 I 174 T Disease 174 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_011570 I 174 V Disease 174 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000912 P 175 A Disease 175 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000913 R 176 L Disease 176 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000914 R 176 P Disease 176 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000915 V 177 L Disease 177 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000916 E 178 G Disease 178 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_009243 E 183 Q Disease 183 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000917 V 190 A Disease 190 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000918 L 194 P Disease 194 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000922 H 201 R Disease 201 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000923 H 201 Y Disease 201 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000924 Y 204 C Disease 204 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_011571 E 205 A Disease 205 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000925 Y 206 D Disease 206 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000926 N 207 D Disease 207 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000927 N 207 S Disease 207 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000928 P 211 T Disease 211 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000929 L 212 P Disease 212 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000930 L 213 P Disease 213 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000931 C 217 G Disease 217 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000932 G 218 V Disease 218 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000933 E 221 G Disease 221 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000934 D 222 V Disease 222 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000935 I 224 M Disease 224 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000936 P 225 R Disease 225 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000937 P 225 T Disease 225 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000938 V 230 I Disease 230 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_009244 S 231 F Disease 231 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000939 S 231 P Disease 231 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000940 F 233 L Disease 233 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000941 T 238 P Disease 238 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000942 G 239 S Disease 239 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_011572 F 240 S Disease 240 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000943 R 241 C Disease 241 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000943 R 241 C Disease 241 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000944 R 241 H Disease 241 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000945 R 241 L Disease 241 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000946 L 242 F Disease 242 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000947 R 243 Q Disease 243 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000947 R 243 Q Disease 243 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000948 P 244 L Disease 244 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000949 V 245 A Disease 245 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000950 V 245 E Disease 245 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000951 V 245 L Disease 245 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000952 A 246 D Disease 246 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000953 G 247 V Disease 247 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000954 L 248 P Disease 248 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000955 L 249 F Disease 249 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000956 R 252 G Disease 252 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000957 R 252 Q Disease 252 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000958 R 252 W Disease 252 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000960 L 255 S Disease 255 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000959 L 255 V Disease 255 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000961 G 257 C Disease 257 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000962 A 259 T Disease 259 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000963 A 259 V Disease 259 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000964 R 261 P Disease 261 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000965 R 261 Q Disease 261 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000966 F 263 L Disease 263 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000967 H 264 L Disease 264 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000968 C 265 G Disease 265 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000969 I 269 L Disease 269 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000970 R 270 K Disease 270 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000971 R 270 S Disease 270 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000972 H 271 Y Disease 271 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000973 S 273 F Disease 273 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_011573 K 274 E Polymorphism 274 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000974 M 276 I Disease 276 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000975 M 276 V Disease 276 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000976 Y 277 C Disease 277 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000977 Y 277 D Disease 277 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000978 T 278 A Disease 278 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000979 T 278 N Disease 278 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000980 E 280 K Disease 280 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000981 P 281 L Disease 281 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000982 D 282 N Disease 282 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000983 I 283 F Disease 283 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000984 I 283 N Disease 283 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000985 R 297 C Disease 297 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000986 R 297 H Disease 297 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000987 F 299 C Disease 299 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000988 A 300 S Disease 300 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000989 A 300 V Disease 300 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000990 S 303 P Disease 303 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000991 Q 304 R Disease 304 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000992 I 306 V Disease 306 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000993 A 309 D Disease 309 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000994 A 309 V Disease 309 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000995 S 310 F Disease 310 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000996 L 311 P Disease 311 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000997 P 314 H Disease 314 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_011574 I 318 T Disease 318 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000998 A 322 G Disease 322 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_000999 A 322 T Disease 322 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_009245 Y 325 C Disease 325 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_009246 E 330 D Disease 330 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001000 F 331 L Disease 331 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001001 L 333 F Disease 333 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001002 C 334 S Disease 334 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001003 G 337 V Disease 337 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001004 D 338 Y Disease 338 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001005 K 341 R Disease 341 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001006 K 341 T Disease 341 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001007 A 342 T Disease 342 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001008 Y 343 C Disease 343 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_009247 G 344 R Disease 344 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_009248 G 344 V Disease 344 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001009 A 345 S Disease 345 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001010 A 345 T Disease 345 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001011 L 347 F Disease 347 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001012 L 348 V Disease 348 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001013 S 349 L Disease 349 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001014 S 349 P Disease 349 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001015 S 350 T Disease 350 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_011575 C 357 G Disease 357 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001016 P 362 T Disease 362 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001019 P 366 H Disease 366 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001020 T 372 S Disease 372 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001021 Y 377 C Disease 377 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001022 T 380 M Disease 380 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001023 Y 386 C Disease 386 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001024 Y 387 H Disease 387 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001025 V 388 L Disease 388 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001026 V 388 M Disease 388 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001027 E 390 G Disease 390 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001028 D 394 A Disease 394 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001029 D 394 H Disease 394 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001030 A 395 G Disease 395 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001031 A 395 P Disease 395 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001033 A 403 V Disease 403 1DMW A 118 PAH PH4H_HUMAN P00439 VAR_001033 A 403 V Disease 403 1J42 A 3 PARK7 PARK7_HUMAN Q99497 VAR_020492 M 26 I Disease 26 1J42 A 3 PARK7 PARK7_HUMAN Q99497 VAR_020493 E 64 D Disease 64 1J42 A 3 PARK7 PARK7_HUMAN Q99497 VAR_020494 R 98 Q Polymorphism 98 1J42 A 3 PARK7 PARK7_HUMAN Q99497 VAR_020496 D 149 A Disease 149 1J42 A 3 PARK7 PARK7_HUMAN Q99497 VAR_020497 G 150 S Polymorphism 150 1J42 A 3 PARK7 PARK7_HUMAN Q99497 VAR_020498 L 166 P Disease 166 1UK0 A 1 PARP1 PARP1_HUMAN P09874 VAR_014715 V 762 A Polymorphism 101 1UK0 A 1 PARP1 PARP1_HUMAN P09874 VAR_019173 K 940 R Polymorphism 279 1FLH A 1 PGA3 PEPA_HUMAN P00790 VAR_006483 V 92 L Unclassified 30 1FLH A 1 PGA3 PEPA_HUMAN P00790 VAR_006484 Q 222 K Polymorphism 160 1FLH A 1 PGA3 PEPA_HUMAN P00790 VAR_006485 A 265 T Polymorphism 203 1FLH A 1 PGA3 PEPA_HUMAN P00790 VAR_006487 D 376 E Polymorphism 314 1A28 A 682 PGR PRGR_HUMAN P06401 VAR_014628 S 865 L Polymorphism 865 1RLW @ 16 PLA2G4A PA24A_HUMAN P47712 VAR_029276 G 103 R Polymorphism 103 1DDJ A 545 PLG PLMN_HUMAN P00747 VAR_006628 S 591 P Disease 572 1DDJ A 545 PLG PLMN_HUMAN P00747 VAR_006629 A 620 T Disease 601 1N7I A 22 PNMT PNMT_HUMAN P11086 VAR_024547 W 276 R Polymorphism 276 1NRG A 49 PNPO PNPO_HUMAN Q9NVS9 VAR_029359 R 116 Q Polymorphism 116 1NRG A 49 PNPO PNPO_HUMAN Q9NVS9 VAR_029360 R 229 W Disease 229 1BPX A 5 POLB DPOLB_HUMAN P06746 VAR_018881 P 242 R Polymorphism 242 1T3N B 27 POLI POLI_HUMAN Q9UNA4 VAR_021239 R 71 G Polymorphism 459 1T3N B 27 POLI POLI_HUMAN Q9UNA4 VAR_021240 I 236 M Polymorphism 624 1T3N B 27 POLI POLI_HUMAN Q9UNA4 VAR_021241 E 251 K Polymorphism 639 2BCU A 250 POLL DPOLL_HUMAN Q9UGP5 VAR_020269 R 438 W Polymorphism 438 1B1C A 7 POR NCPR_HUMAN P16435 VAR_021154 Y 178 D Disease 118 1K7L A 202 PPARA PPARA_HUMAN Q07869 VAR_016112 V 227 A Polymorphism 227 1K7L A 202 PPARA PPARA_HUMAN Q07869 VAR_016113 A 268 V Polymorphism 268 1K7L A 202 PPARA PPARA_HUMAN Q07869 VAR_016114 D 304 N Polymorphism 304 1K7L A 202 PPARA PPARA_HUMAN Q07869 VAR_016115 R 409 T Polymorphism 409 1B3U A 1 PPP2R1A 2AAA_HUMAN P30153 VAR_006383 H 87 R Unclassified 86 1I4M A 119 PRNP PRIO_HUMAN P04156 VAR_006468 N 171 S Polymorphism 171 1I4M A 119 PRNP PRIO_HUMAN P04156 VAR_006469 D 178 N Disease 178 1I4M A 119 PRNP PRIO_HUMAN P04156 VAR_006469 D 178 N Disease 178 1I4M A 119 PRNP PRIO_HUMAN P04156 VAR_006469 D 178 N Disease 178 1I4M A 119 PRNP PRIO_HUMAN P04156 VAR_006470 V 180 I Disease 180 1I4M A 119 PRNP PRIO_HUMAN P04156 VAR_006470 V 180 I Disease 180 1I4M A 119 PRNP PRIO_HUMAN P04156 VAR_006471 T 183 A Unclassified 183 1I4M A 119 PRNP PRIO_HUMAN P04156 VAR_008746 H 187 R Disease 187 1I4M A 119 PRNP PRIO_HUMAN P04156 VAR_008748 T 188 K Unclassified 188 1I4M A 119 PRNP PRIO_HUMAN P04156 VAR_008747 T 188 R Polymorphism 188 1I4M A 119 PRNP PRIO_HUMAN P04156 VAR_008749 E 196 K Disease 196 1I4M A 119 PRNP PRIO_HUMAN P04156 VAR_008749 E 196 K Disease 196 1I4M A 119 PRNP PRIO_HUMAN P04156 VAR_006472 F 198 S Disease 198 1I4M A 119 PRNP PRIO_HUMAN P04156 VAR_006473 E 200 K Disease 200 1I4M A 119 PRNP PRIO_HUMAN P04156 VAR_006473 E 200 K Disease 200 1I4M A 119 PRNP PRIO_HUMAN P04156 VAR_008750 D 202 N Disease 202 1I4M A 119 PRNP PRIO_HUMAN P04156 VAR_008751 V 203 I Disease 203 1I4M A 119 PRNP PRIO_HUMAN P04156 VAR_008751 V 203 I Disease 203 1N69 A 1 PSAP SAP_HUMAN P07602 VAR_006943 T 217 I Disease 23 1N69 A 1 PSAP SAP_HUMAN P07602 VAR_006944 C 241 S Disease 47 1L8L A 4 PSPH SERB_HUMAN P78330 VAR_022378 D 32 N Disease 32 1L8L A 4 PSPH SERB_HUMAN P78330 VAR_022379 M 52 T Disease 52 1HDR @ 8 QDPR DHPR_HUMAN P09417 VAR_006961 W 36 R Disease 35 1HDR @ 8 QDPR DHPR_HUMAN P09417 VAR_013027 S 51 T Polymorphism 50 1HDR @ 8 QDPR DHPR_HUMAN P09417 VAR_021769 Q 66 R Disease 65 1HDR @ 8 QDPR DHPR_HUMAN P09417 VAR_006962 L 74 P Disease 73 1HDR @ 8 QDPR DHPR_HUMAN P09417 VAR_006963 W 108 G Disease 107 1HDR @ 8 QDPR DHPR_HUMAN P09417 VAR_006965 P 145 L Disease 144 1HDR @ 8 QDPR DHPR_HUMAN P09417 VAR_021770 G 149 R Disease 148 1HDR @ 8 QDPR DHPR_HUMAN P09417 VAR_006966 Y 150 C Disease 149 1HDR @ 8 QDPR DHPR_HUMAN P09417 VAR_006967 G 151 S Disease 150 1HDR @ 8 QDPR DHPR_HUMAN P09417 VAR_006968 H 158 Y Disease 157 1HDR @ 8 QDPR DHPR_HUMAN P09417 VAR_006969 G 170 S Disease 169 1HDR @ 8 QDPR DHPR_HUMAN P09417 VAR_006970 F 212 C Disease 211 1T91 A 7 RAB7 RAB7_HUMAN P51149 VAR_018722 L 129 F Disease 129 1T91 A 7 RAB7 RAB7_HUMAN P51149 VAR_018723 V 162 M Disease 162 1.00E+96 A 1 RAC1 RAC1_HUMAN P63000 VAR_014540 N 26 D Polymorphism 26 1.00E+96 A 1 RAC1 RAC1_HUMAN P63000 VAR_014541 F 28 L Polymorphism 28 1.00E+96 A 1 RAC1 RAC1_HUMAN P63000 VAR_014545 V 93 G Polymorphism 93 1.00E+96 A 1 RAC1 RAC1_HUMAN P63000 VAR_014544 V 93 I Polymorphism 93 1.00E+96 A 1 RAC1 RAC1_HUMAN P63000 VAR_014546 T 108 I Polymorphism 108 1.00E+96 A 1 RAC1 RAC1_HUMAN P63000 VAR_014547 K 130 R Polymorphism 130 1DS6 A 1 RAC2 RAC2_HUMAN P15153 VAR_017452 D 57 N Disease 57 1H2I A 24 RAD52 RAD52_HUMAN P43351 VAR_019218 R 70 W Polymorphism 70 1AD6 @ 378 RB1 RB_HUMAN P06400 VAR_019379 Q 436 K Polymorphism 436 1AD6 @ 378 RB1 RB_HUMAN P06400 VAR_010048 K 447 Q Disease 447 1AD6 @ 378 RB1 RB_HUMAN P06400 VAR_005576 M 457 R Disease 457 1AD6 @ 378 RB1 RB_HUMAN P06400 VAR_011580 R 500 G Disease 500 1AD6 @ 378 RB1 RB_HUMAN P06400 VAR_019380 A 525 G Polymorphism 525 1AD6 @ 378 RB1 RB_HUMAN P06400 VAR_010049 K 530 R Disease 530 1BRP @ 1 RBP4 RETBP_HUMAN P02753 VAR_009276 I 59 N Unclassified 41 1BRP @ 1 RBP4 RETBP_HUMAN P02753 VAR_009277 G 93 D Unclassified 75 1GQV A 1 RNASE2 RNAS2_HUMAN P10153 VAR_013150 H 156 N Unclassified 129 1H1H A 1 RNASE3 ECP_HUMAN P12724 VAR_014109 R 72 C Polymorphism 45 1H1H A 1 RNASE3 ECP_HUMAN P12724 VAR_013149 R 124 T Polymorphism 97 1H1H A 1 RNASE3 ECP_HUMAN P12724 VAR_029017 G 130 R Polymorphism 103 1WDY A 21 RNASEL RN5A_HUMAN Q05823 VAR_013509 G 59 S Polymorphism 59 2CLS A 10 RND1 RND1_HUMAN Q92730 VAR_020188 P 44 R Polymorphism 44 1A4Y A 1 RNH1 RINI_HUMAN P13489 VAR_014726 P 170 L Polymorphism 169 1JMC A 183 RPA1 RFA1_HUMAN P27694 VAR_019236 T 351 A Polymorphism 351 1LJM A 1061 RUNX1 RUNX1_HUMAN Q01196 VAR_012128 R 139 Q Disease 1139 1K96 A 2 S100A6 S10A6_HUMAN P06703 VAR_011982 H 27 R Polymorphism 27 1K96 A 2 S100A6 S10A6_HUMAN P06703 VAR_011983 N 69 S Polymorphism 69 1K96 A 2 S100A6 S10A6_HUMAN P06703 VAR_011984 I 83 T Polymorphism 83 2GGT A 135 SCO1 SCO1_HUMAN O75880 VAR_012109 P 174 L Disease 174 1ESL @ 1 SELE LYAM2_HUMAN P16581 VAR_011790 C 130 W Polymorphism 109 1ESL @ 1 SELE LYAM2_HUMAN P16581 VAR_004191 S 149 R Polymorphism 128 1ATU @ 21 SERPINA1 A1AT_HUMAN P01009 VAR_006990 I 116 N Unclassified 92 1ATU @ 21 SERPINA1 A1AT_HUMAN P01009 VAR_006991 R 125 H Polymorphism 101 1ATU @ 21 SERPINA1 A1AT_HUMAN P01009 VAR_006992 G 139 S Polymorphism 115 1ATU @ 21 SERPINA1 A1AT_HUMAN P01009 VAR_006993 G 172 R Unclassified 148 1ATU @ 21 SERPINA1 A1AT_HUMAN P01009 VAR_006994 G 172 W Unclassified 148 1ATU @ 21 SERPINA1 A1AT_HUMAN P01009 VAR_006995 Q 180 E Unclassified 156 1ATU @ 21 SERPINA1 A1AT_HUMAN P01009 VAR_006996 E 228 K Unclassified 204 1ATU @ 21 SERPINA1 A1AT_HUMAN P01009 VAR_006998 R 247 C Unclassified 223 1ATU @ 21 SERPINA1 A1AT_HUMAN P01009 VAR_006999 D 280 V Unclassified 256 1ATU @ 21 SERPINA1 A1AT_HUMAN P01009 VAR_007000 E 288 V Polymorphism 264 1ATU @ 21 SERPINA1 A1AT_HUMAN P01009 VAR_007001 S 354 F Unclassified 330 1ATU @ 21 SERPINA1 A1AT_HUMAN P01009 VAR_007002 A 360 T Polymorphism 336 1ATU @ 21 SERPINA1 A1AT_HUMAN P01009 VAR_007003 D 365 N Unclassified 341 1ATU @ 21 SERPINA1 A1AT_HUMAN P01009 VAR_007004 E 366 K Unclassified 342 1LQ8 A 26 SERPINA5 IPSP_HUMAN P05154 VAR_013082 G 94 V Polymorphism 75 1LQ8 A 26 SERPINA5 IPSP_HUMAN P05154 VAR_007101 K 105 E Polymorphism 86 1LQ8 A 26 SERPINA5 IPSP_HUMAN P05154 VAR_013083 L 115 P Polymorphism 96 1LQ8 A 26 SERPINA5 IPSP_HUMAN P05154 VAR_013900 P 121 A Polymorphism 102 1LQ8 A 26 SERPINA5 IPSP_HUMAN P05154 VAR_013084 G 217 R Polymorphism 198 1C5G A 24 SERPINE1 PAI1_HUMAN P05121 VAR_013087 R 209 H Polymorphism 209 1C5G A 24 SERPINE1 PAI1_HUMAN P05121 VAR_013088 T 255 N Polymorphism 255 1B08 A 204 SFTPD SFTPD_HUMAN P35247 VAR_020940 S 290 T Polymorphism 270 1B08 A 204 SFTPD SFTPD_HUMAN P35247 VAR_020941 E 309 K Polymorphism 289 1D4T A 1 SH2D1A SH21A_HUMAN O60880 VAR_005612 R 32 T Disease 32 1D4T A 1 SH2D1A SH21A_HUMAN O60880 VAR_018307 R 55 L Disease 55 1D4T A 1 SH2D1A SH21A_HUMAN O60880 VAR_005613 T 68 I Disease 68 1KDK A 12 SHBG SHBG_HUMAN P04278 VAR_016182 P 185 L Polymorphism 156 1HYN P 56 SLC4A1 B3AT_HUMAN P02730 VAR_013784 E 90 K Disease 90 1HYN P 56 SLC4A1 B3AT_HUMAN P02730 VAR_014613 R 112 S Polymorphism 112 1HYN P 56 SLC4A1 B3AT_HUMAN P02730 VAR_013785 G 130 R Disease 130 1HYN P 56 SLC4A1 B3AT_HUMAN P02730 VAR_013786 P 147 S Disease 147 1HYN P 56 SLC4A1 B3AT_HUMAN P02730 VAR_013787 A 285 D Disease 285 1HYN P 56 SLC4A1 B3AT_HUMAN P02730 VAR_000800 P 327 R Disease 327 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_013527 N 66 S Disease 65 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_013528 L 68 R Disease 67 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_008718 G 73 S Disease 72 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_013529 D 77 Y Disease 76 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_016874 H 81 A Unclassified 80 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_013530 L 85 F Disease 84 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_007143 L 85 V Disease 84 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_007144 G 86 R Disease 85 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_013531 N 87 S Disease 86 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_013532 A 90 V Disease 89 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_007145 D 91 A Disease 90 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_013533 D 91 V Disease 90 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_007146 G 94 A Disease 93 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_007147 G 94 C Disease 93 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_007148 G 94 D Disease 93 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_007149 G 94 R Disease 93 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_008719 G 94 V Disease 93 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_007150 E 101 G Disease 100 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_013534 E 101 K Disease 100 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_007151 D 102 G Disease 101 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_007152 D 102 N Disease 101 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_008720 I 105 F Disease 104 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_013535 S 106 L Disease 105 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_007153 L 107 V Disease 106 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_013536 G 109 V Disease 108 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_013537 I 113 M Disease 112 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_007154 I 113 T Disease 112 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_007155 I 114 T Disease 113 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_013538 G 115 A Disease 114 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_007156 R 116 G Disease 115 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_008722 D 125 V Disease 124 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_007157 D 126 H Disease 125 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_013539 L 127 S Disease 126 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_007158 S 135 N Disease 134 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_007159 N 140 K Disease 139 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_007160 L 145 F Disease 144 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_008724 L 145 S Disease 144 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_008725 A 146 T Disease 145 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_013540 C 147 R Disease 146 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_007161 V 149 G Disease 148 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_007162 V 149 I Disease 148 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_007163 I 150 T Disease 149 1AZV A 1 SOD1 SODC_HUMAN P00441 VAR_007164 I 152 T Disease 151 1AP5 A 1 SOD2 SODM_HUMAN P04179 VAR_007165 I 82 T Polymorphism 58 1AP5 A 1 SOD2 SODM_HUMAN P04179 VAR_019365 R 156 W Polymorphism 132 1S35 A 1063 SPTB SPTB1_HUMAN P11277 VAR_001354 D 1151 N Polymorphism 1151 1XV1 A 4 SULT1B1 ST1B1_HUMAN O43704 VAR_020886 L 145 V Polymorphism 145 1H6F A 102 TBX3 TBX3_HUMAN O15119 VAR_009601 L 143 P Disease 143 1H6F A 102 TBX3 TBX3_HUMAN O15119 VAR_009602 Y 149 S Disease 149 2BB5 A 1 TCN2 TCO2_HUMAN P20062 VAR_001638 M 198 T Polymorphism 180 2BB5 A 1 TCN2 TCO2_HUMAN P20062 VAR_001639 I 219 L Polymorphism 201 2BB5 A 1 TCN2 TCO2_HUMAN P20062 VAR_001640 P 259 R Polymorphism 241 1WYW A 117 TDG TDG_HUMAN Q13569 VAR_018892 G 199 S Polymorphism 199 1A8E @ 3 TF TRFE_HUMAN P02787 VAR_029280 S 55 R Polymorphism 36 1A8E @ 3 TF TRFE_HUMAN P02787 VAR_011997 G 142 S Polymorphism 123 1A8E @ 3 TF TRFE_HUMAN P02787 VAR_011998 G 277 S Polymorphism 258 1A8E @ 3 TF TRFE_HUMAN P02787 VAR_007544 D 296 G Polymorphism 277 1A8E @ 3 TF TRFE_HUMAN P02787 VAR_007545 H 319 R Polymorphism 300 1LSL A 416 THBS1 TSP1_HUMAN P07996 VAR_028938 T 523 A Polymorphism 505 1NAX A 211 THRB THB1_HUMAN P10828 VAR_004632 A 234 T Disease 234 1NAX A 211 THRB THB1_HUMAN P10828 VAR_004633 R 243 W Disease 243 1NAX A 211 THRB THB1_HUMAN P10828 VAR_004634 R 316 H Disease 316 1NAX A 211 THRB THB1_HUMAN P10828 VAR_004635 A 317 T Disease 317 1NAX A 211 THRB THB1_HUMAN P10828 VAR_004636 R 320 C Disease 320 1NAX A 211 THRB THB1_HUMAN P10828 VAR_004637 R 320 H Disease 320 1NAX A 211 THRB THB1_HUMAN P10828 VAR_004638 G 332 R Disease 332 1NAX A 211 THRB THB1_HUMAN P10828 VAR_011784 T 337 I Polymorphism 337 1NAX A 211 THRB THB1_HUMAN P10828 VAR_004640 R 338 W Disease 338 1NAX A 211 THRB THB1_HUMAN P10828 VAR_004641 Q 340 H Disease 340 1NAX A 211 THRB THB1_HUMAN P10828 VAR_004642 K 342 I Disease 342 1NAX A 211 THRB THB1_HUMAN P10828 VAR_004645 G 345 R Disease 345 1NAX A 211 THRB THB1_HUMAN P10828 VAR_004644 G 345 S Disease 345 1NAX A 211 THRB THB1_HUMAN P10828 VAR_004643 G 345 V Disease 345 1NAX A 211 THRB THB1_HUMAN P10828 VAR_004646 G 347 E Disease 347 1NAX A 211 THRB THB1_HUMAN P10828 VAR_004647 V 348 E Disease 348 1NAX A 211 THRB THB1_HUMAN P10828 VAR_004648 T 426 I Disease 426 1NAX A 211 THRB THB1_HUMAN P10828 VAR_004649 R 438 H Disease 438 1EXT A 13 TNFRSF1A TNR1A_HUMAN P19438 VAR_019303 C 62 G Disease 33 1EXT A 13 TNFRSF1A TNR1A_HUMAN P19438 VAR_013411 C 62 Y Disease 33 1EXT A 13 TNFRSF1A TNR1A_HUMAN P19438 VAR_019330 P 75 L Disease 46 1EXT A 13 TNFRSF1A TNR1A_HUMAN P19438 VAR_013412 T 79 M Disease 50 1EXT A 13 TNFRSF1A TNR1A_HUMAN P19438 VAR_013413 C 81 F Disease 52 1EXT A 13 TNFRSF1A TNR1A_HUMAN P19438 VAR_019304 C 99 S Disease 70 1EXT A 13 TNFRSF1A TNR1A_HUMAN P19438 VAR_019331 S 115 G Disease 86 1EXT A 13 TNFRSF1A TNR1A_HUMAN P19438 VAR_013414 C 117 R Disease 88 1EXT A 13 TNFRSF1A TNR1A_HUMAN P19438 VAR_013415 C 117 Y Disease 88 1EXT A 13 TNFRSF1A TNR1A_HUMAN P19438 VAR_019305 R 121 P Disease 92 1EXT A 13 TNFRSF1A TNR1A_HUMAN P19438 VAR_019332 R 121 Q Disease 92 1HTI A 1 TPI1 TPIS_HUMAN P60174 VAR_007534 C 42 Y Disease 41 1HTI A 1 TPI1 TPIS_HUMAN P60174 VAR_007535 G 73 A Disease 72 1HTI A 1 TPI1 TPIS_HUMAN P60174 VAR_007536 E 105 D Disease 104 1HTI A 1 TPI1 TPIS_HUMAN P60174 VAR_007537 G 123 R Unclassified 122 1HTI A 1 TPI1 TPIS_HUMAN P60174 VAR_007538 V 155 M Disease 154 1HTI A 1 TPI1 TPIS_HUMAN P60174 VAR_007539 I 171 V Disease 170 1HTI A 1 TPI1 TPIS_HUMAN P60174 VAR_007540 V 232 M Disease 231 1HTI A 1 TPI1 TPIS_HUMAN P60174 VAR_007541 F 241 L Disease 240 1OIP A 25 TTPA TTPA_HUMAN P49638 VAR_022388 R 59 W Disease 59 1OIP A 25 TTPA TTPA_HUMAN P49638 VAR_005668 H 101 Q Disease 101 1OIP A 25 TTPA TTPA_HUMAN P49638 VAR_022389 A 120 T Disease 120 1OIP A 25 TTPA TTPA_HUMAN P49638 VAR_022390 E 141 K Disease 141 1OIP A 25 TTPA TTPA_HUMAN P49638 VAR_007858 R 192 H Disease 192 1OIP A 25 TTPA TTPA_HUMAN P49638 VAR_022391 R 221 W Disease 221 1OIP A 25 TTPA TTPA_HUMAN P49638 VAR_022392 G 246 R Disease 246 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007552 V 50 A Disease 30 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007553 V 50 L Disease 30 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007554 V 50 M Disease 30 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007555 F 53 I Disease 33 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007556 F 53 L Disease 33 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007557 A 56 P Disease 36 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007558 E 62 G Disease 42 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007559 A 65 D Disease 45 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007560 A 65 T Disease 45 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007561 G 67 A Disease 47 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007562 G 67 R Disease 47 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007563 G 67 V Disease 47 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007564 T 69 A Disease 49 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007565 S 70 I Disease 50 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007566 S 70 R Disease 50 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007567 S 72 P Disease 52 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007568 E 74 G Disease 54 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007569 L 75 P Disease 55 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007570 L 78 H Disease 58 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007571 L 78 R Disease 58 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007572 T 79 K Disease 59 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007573 T 80 A Disease 60 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007574 E 81 K Disease 61 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007575 F 84 L Disease 64 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007576 I 88 L Unclassified 68 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007577 Y 89 H Disease 69 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007578 K 90 N Disease 70 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007579 V 91 A Disease 71 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007580 I 93 V Disease 73 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007581 D 94 H Polymorphism 74 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007582 S 97 Y Disease 77 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007583 I 104 N Unclassified 84 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007584 I 104 S Disease 84 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_010659 E 109 K Disease 89 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007585 E 109 Q Disease 89 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007586 H 110 N Polymorphism 90 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007587 A 111 S Disease 91 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007588 A 117 G Disease 97 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007589 G 121 S Polymorphism 101 1BM7 A 10 TTR TTHY_HUMAN P02766 VAR_007590 P 122 R Polymorphism 102 2ETL A 1 UCHL1 UCHL1_HUMAN P09936 VAR_015677 S 18 Y Polymorphism 18 2ETL A 1 UCHL1 UCHL1_HUMAN P09936 VAR_015678 I 93 M Unclassified 93 1AKZ @ 82 UNG UNG_HUMAN P13051 VAR_017094 F 251 S Disease 242 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_022568 F 46 L Disease 46 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_009103 P 62 L Disease 62 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_007910 A 80 G Disease 80 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_022569 A 80 S Disease 80 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_009104 V 134 Q Disease 134 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_009104 V 134 Q Disease 134 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_010985 R 142 Q Disease 142 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_022570 R 144 P Disease 144 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_022571 G 156 D Disease 156 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_010986 L 161 Q Disease 161 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_007911 M 165 R Disease 165 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_007714 E 167 K Disease 167 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_007714 E 167 K Disease 167 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_022572 R 193 P Disease 193 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_007912 L 195 F Disease 195 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_022573 L 216 Q Disease 216 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_022574 E 218 K Disease 218 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_010987 S 219 F Disease 219 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_009105 H 220 P Disease 220 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_009106 F 229 L Disease 229 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_022575 F 232 L Disease 232 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_010988 P 235 S Disease 235 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_007715 G 281 E Disease 281 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_007716 G 281 V Disease 281 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_022577 L 282 R Disease 282 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_007717 R 292 G Disease 292 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_022578 G 303 S Disease 303 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_007914 N 304 K Disease 304 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_009107 Y 311 C Disease 311 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_007915 G 318 R Disease 318 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_009108 M 324 T Disease 324 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_007916 R 332 H Disease 332 1JPH A 10 UROD DCUP_HUMAN P06132 VAR_007917 I 334 T Disease 334 1JR2 A 1 UROS HEM4_HUMAN P10746 VAR_021615 V 3 F Disease 3 1JR2 A 1 UROS HEM4_HUMAN P10746 VAR_003674 L 4 F Disease 4 1JR2 A 1 UROS HEM4_HUMAN P10746 VAR_003675 Y 19 C Disease 19 1JR2 A 1 UROS HEM4_HUMAN P10746 VAR_021616 S 47 P Disease 47 1JR2 A 1 UROS HEM4_HUMAN P10746 VAR_003676 P 53 L Disease 53 1JR2 A 1 UROS HEM4_HUMAN P10746 VAR_003677 T 62 A Disease 62 1JR2 A 1 UROS HEM4_HUMAN P10746 VAR_003678 A 66 V Disease 66 1JR2 A 1 UROS HEM4_HUMAN P10746 VAR_021617 A 69 T Disease 69 1JR2 A 1 UROS HEM4_HUMAN P10746 VAR_003679 C 73 R Disease 73 1JR2 A 1 UROS HEM4_HUMAN P10746 VAR_003680 V 82 F Disease 82 1JR2 A 1 UROS HEM4_HUMAN P10746 VAR_003681 V 99 A Disease 99 1JR2 A 1 UROS HEM4_HUMAN P10746 VAR_003682 A 104 V Disease 104 1JR2 A 1 UROS HEM4_HUMAN P10746 VAR_021618 I 129 T Disease 129 1JR2 A 1 UROS HEM4_HUMAN P10746 VAR_013558 G 188 R Disease 188 1JR2 A 1 UROS HEM4_HUMAN P10746 VAR_021619 G 188 W Disease 188 1JR2 A 1 UROS HEM4_HUMAN P10746 VAR_003683 S 212 P Disease 212 1JR2 A 1 UROS HEM4_HUMAN P10746 VAR_021621 I 219 S Disease 219 1JR2 A 1 UROS HEM4_HUMAN P10746 VAR_003684 G 225 S Disease 225 1JR2 A 1 UROS HEM4_HUMAN P10746 VAR_003685 T 228 M Disease 228 1KB2 A 22 VDR VDR_HUMAN P11473 VAR_004658 K 45 E Unclassified 45 1KB2 A 22 VDR VDR_HUMAN P11473 VAR_004659 G 46 D Unclassified 46 1KB2 A 22 VDR VDR_HUMAN P11473 VAR_004660 F 47 I Unclassified 47 1KB2 A 22 VDR VDR_HUMAN P11473 VAR_004661 R 50 Q Unclassified 50 1KB2 A 22 VDR VDR_HUMAN P11473 VAR_004662 R 73 Q Unclassified 73 1KB2 A 22 VDR VDR_HUMAN P11473 VAR_004663 R 80 Q Unclassified 80 2FBV A 37 WRN WRN_HUMAN Q14191 VAR_017454 V 114 I Polymorphism 114 2FBV A 37 WRN WRN_HUMAN Q14191 VAR_026588 K 125 N Disease 125 2FBV A 37 WRN WRN_HUMAN Q14191 VAR_026589 K 135 E Disease 135 2FBV A 37 WRN WRN_HUMAN Q14191 VAR_017455 T 172 P Polymorphism 172 1CDZ A 1 XRCC1 XRCC1_HUMAN P18887 VAR_014780 R 559 Q Polymorphism 22 1CDZ A 1 XRCC1 XRCC1_HUMAN P18887 VAR_014781 R 560 W Polymorphism 23 1CDZ A 1 XRCC1 XRCC1_HUMAN P18887 VAR_014782 Y 576 S Polymorphism 39