ClinVar Miner

List of variants studied for congenital entropion

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3928
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HGVS dbSNP gnomAD frequency
NM_006907.4(PYCR1):c.903A>G (p.Ser301=) rs61747618 0.98394
NM_152281.3(GORAB):c.21A>C (p.Gly7=) rs7531125 0.93522
NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val) rs601314 0.89787
NM_000501.4(ELN):c.1315+17C>T rs2856728 0.79828
NM_006907.4(PYCR1):c.138+37C>T rs34419046 0.79384
NM_002860.4(ALDH18A1):c.88+126A>C rs9787589 0.76474
NM_006329.4(FBLN5):c.945T>C (p.Ile315=) rs2430347 0.76291
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=) rs7135542 0.71178
NM_012463.4(ATP6V0A2):c.*1693C>G rs10846553 0.70431
NM_012463.4(ATP6V0A2):c.294+103T>C rs7301641 0.66467
NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=) rs1139789 0.66312
NM_002860.4(ALDH18A1):c.304-34A>G rs2275273 0.66239
NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) rs1399961 0.66054
NM_012463.4(ATP6V0A2):c.649-114T>G rs10744159 0.66049
NM_012463.4(ATP6V0A2):c.432+14C>T rs11837144 0.65907
NM_016938.5(EFEMP2):c.-58G>A rs2303384 0.61477
NM_000501.4(ELN):c.1414+24C>T rs28763986 0.60222
NM_016938.5(EFEMP2):c.490+23G>C rs630394 0.59356
NM_012463.4(ATP6V0A2):c.*1128T>C rs10744162 0.53964
NM_152281.3(GORAB):c.883G>A (p.Glu295Lys) rs913257 0.52780
NM_012463.4(ATP6V0A2):c.*3425G>A rs2333834 0.52752
NM_001042545.2(LTBP4):c.379G>A (p.Val127Ile) rs2303729 0.50929
NM_001042545.2(LTBP4):c.3687C>T (p.Asp1229=) rs7367 0.50292
NM_001042545.2(LTBP4):c.2158A>G (p.Thr720Ala) rs1131620 0.47295
NM_001042545.2(LTBP4):c.2257A>G (p.Thr753Ala) rs1051303 0.47266
NM_002860.4(ALDH18A1):c.*155G>A rs1053905 0.42481
NM_002860.4(ALDH18A1):c.1606-48T>G rs2296692 0.42481
NM_002860.4(ALDH18A1):c.2207-46G>A rs7099284 0.42467
NM_030777.4(SLC2A10):c.*2176T>C rs1059217 0.40292
NM_030777.4(SLC2A10):c.*2285T>G rs1136540 0.40283
NM_016938.5(EFEMP2):c.276C>T (p.His92=) rs633800 0.39212
NM_001042545.2(LTBP4):c.3221C>T (p.Thr1074Met) rs10880 0.39072
NM_002860.4(ALDH18A1):c.2206+15G>A rs10882640 0.39029
NM_030777.4(SLC2A10):c.*2365T>A rs1136544 0.38922
NM_030777.4(SLC2A10):c.*1293T>C rs707507 0.38336
NM_030777.4(SLC2A10):c.1547+18T>G rs2425906 0.37194
NM_024809.5(TCTN2):c.*468C>T rs7398298 0.36606
NM_012463.3(ATP6V0A2):c.-222C>G rs71458814 0.36518
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320 0.36505
NM_018993.4(RIN2):c.1818C>T (p.His606=) rs2076584 0.35224
NM_152281.3(GORAB):c.*1064T>A rs6427262 0.31699
NM_024809.5(TCTN2):c.*155G>A rs12811354 0.31018
NM_000501.4(ELN):c.*501_*502insA rs34208922 0.30369
NM_002860.4(ALDH18A1):c.*699C>T rs4037 0.28027
NM_002860.4(ALDH18A1):c.2110+24A>T rs2296691 0.27977
NM_002860.4(ALDH18A1):c.*412T>C rs8758 0.27959
NM_006329.4(FBLN5):c.-414C>T rs7149187 0.26340
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291 0.24533
NM_001042545.2(LTBP4):c.*20G>A rs1051481 0.17303
NM_152281.3(GORAB):c.*47T>G rs7552922 0.15016
NM_000501.4(ELN):c.*1194A>G rs10233395 0.12697
NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr) rs2235491 0.12316
NM_018993.4(RIN2):c.2201-47G>A rs6136905 0.10785
NM_002860.4(ALDH18A1):c.896C>T (p.Thr299Ile) rs2275272 0.10214
NM_012463.4(ATP6V0A2):c.*3553G>A rs73420351 0.09739
NM_006907.4(PYCR1):c.576T>C (p.Gly192=) rs872029 0.07170
NM_030777.4(SLC2A10):c.1541A>G (p.Lys514Arg) rs41283344 0.06229
NM_024809.5(TCTN2):c.*412T>C rs112525270 0.05727
NM_024809.5(TCTN2):c.*87C>T rs113292231 0.05704
NM_152281.3(GORAB):c.*1065A>T rs12063774 0.05681
NM_152281.3(GORAB):c.*884C>A rs76753490 0.05650
NM_152281.3(GORAB):c.*883G>A rs76509176 0.05649
NM_003573.2(LTBP4):c.2144-11C>A rs41470347 0.05552
NM_012463.4(ATP6V0A2):c.*3603G>A rs73420352 0.05364
NM_012463.4(ATP6V0A2):c.*574C>T rs112521789 0.05337
NM_001042545.2(LTBP4):c.1300T>A (p.Ser434Thr) rs34545902 0.04499
NM_012463.4(ATP6V0A2):c.*3227C>G rs111540619 0.04290
NM_002860.4(ALDH18A1):c.-79A>G rs117502632 0.03469
NM_002860.4(ALDH18A1):c.1770C>T (p.Ser590=) rs11541780 0.03433
NM_001042545.2(LTBP4):c.1702C>G (p.Arg568Gly) rs33937741 0.02986
NM_002860.4(ALDH18A1):c.1977C>T (p.Ser659=) rs1804934 0.02975
NM_030777.4(SLC2A10):c.1552A>G (p.Thr518Ala) rs6018008 0.02748
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val) rs17883456 0.02527
NM_001042545.2(LTBP4):c.1834C>G (p.Pro612Ala) rs34299942 0.02447
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187 0.02323
NM_012463.4(ATP6V0A2):c.*1600G>A rs58028686 0.02320
NM_000501.4(ELN):c.2086+5G>C rs111866046 0.02303
NM_002860.4(ALDH18A1):c.1029T>C (p.Ile343=) rs41291566 0.02201
NM_012463.4(ATP6V0A2):c.*2877T>A rs77765053 0.02183
NM_012463.4(ATP6V0A2):c.*2357C>T rs117222175 0.02177
NM_030777.4(SLC2A10):c.1609A>G (p.Ile537Val) rs7348121 0.02113
NM_030777.4(SLC2A10):c.*56A>G rs112821000 0.02108
NM_016938.5(EFEMP2):c.-113C>T rs188624478 0.02060
NM_006329.4(FBLN5):c.*623A>T rs77357345 0.02046
NM_012463.4(ATP6V0A2):c.*3235A>G rs7310965 0.02017
NM_152281.3(GORAB):c.62-3T>C rs73029138 0.01889
NM_030777.4(SLC2A10):c.1154C>G (p.Ala385Gly) rs79849424 0.01835
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060 0.01800
NM_006329.4(FBLN5):c.*514A>G rs17804735 0.01698
NM_006329.4(FBLN5):c.1122C>T (p.Tyr374=) rs145515678 0.01635
NM_012463.4(ATP6V0A2):c.*1205C>G rs6488903 0.01582
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr) rs3765571 0.01418
NM_030777.4(SLC2A10):c.*143G>A rs35691491 0.01384
NM_006329.4(FBLN5):c.989+13G>A rs74071605 0.01368
NM_030777.4(SLC2A10):c.*280C>T rs6018009 0.01365
NM_030777.4(SLC2A10):c.*334A>G rs6018010 0.01363
NM_006329.4(FBLN5):c.863-13C>T rs74071606 0.01336
NM_012463.4(ATP6V0A2):c.1039-14T>C rs115569365 0.01308
NM_030777.4(SLC2A10):c.-27C>T rs149481442 0.01295
NM_002860.4(ALDH18A1):c.*611G>A rs41291562 0.01242
NM_018993.4(RIN2):c.85G>A (p.Gly29Arg) rs78648341 0.01238
NM_006907.4(PYCR1):c.348G>A (p.Arg116=) rs35533499 0.01229
NM_024809.5(TCTN2):c.*67C>T rs112214860 0.01216
NM_006329.4(FBLN5):c.*326G>A rs79375113 0.01197
NM_006329.4(FBLN5):c.*329T>C rs115237925 0.01197
NM_012463.4(ATP6V0A2):c.*2646A>G rs77292614 0.01186
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser) rs75279884 0.01166
NM_030777.4(SLC2A10):c.*1340G>A rs78189695 0.01153
NM_012463.4(ATP6V0A2):c.1606-12G>A rs112415338 0.01148
NM_001042545.2(LTBP4):c.1125G>A (p.Arg375=) rs41354044 0.01103
NM_012463.4(ATP6V0A2):c.*3654A>G rs77670478 0.01086
NM_012463.4(ATP6V0A2):c.*1731C>T rs114514797 0.01081
NM_012463.4(ATP6V0A2):c.*2329G>A rs113118376 0.01080
NM_024809.5(TCTN2):c.*45G>A rs142969969 0.01053
NM_000501.4(ELN):c.427+8C>T rs55868272 0.01032
NM_024809.5(TCTN2):c.2041T>C (p.Leu681=) rs112158562 0.01028
NM_152281.3(GORAB):c.657C>T (p.Tyr219=) rs76365864 0.00986
NM_000052.7(ATP7A):c.327G>A (p.Lys109=) rs61747968 0.00978
NM_006907.4(PYCR1):c.*272G>A rs3744807 0.00977
NM_001042545.2(LTBP4):c.2175C>T (p.Cys725=) rs141810975 0.00961
NM_012463.4(ATP6V0A2):c.777G>A (p.Arg259=) rs73420336 0.00931
NM_001042545.2(LTBP4):c.1968C>T (p.Pro656=) rs140927310 0.00894
NM_016938.5(EFEMP2):c.*403C>G rs77540033 0.00883
NM_030777.4(SLC2A10):c.*1100T>G rs6094450 0.00880
NM_001042545.2(LTBP4):c.2812+6C>T rs190107102 0.00874
NM_030777.4(SLC2A10):c.1288+10G>A rs76315093 0.00869
NM_030777.4(SLC2A10):c.*50T>C rs36103903 0.00858
NM_012463.4(ATP6V0A2):c.*2875A>C rs149741581 0.00851
NM_012463.3(ATP6V0A2):c.-227A>G rs561163813 0.00832
NM_006907.4(PYCR1):c.894C>T (p.Thr298=) rs35589179 0.00828
NM_000501.4(ELN):c.*383T>G rs184490734 0.00783
NM_012463.4(ATP6V0A2):c.*1645G>A rs74994957 0.00766
NM_001042545.2(LTBP4):c.2053G>A (p.Asp685Asn) rs34093919 0.00763
NM_000501.3(ELN):c.-38C>T rs41410045 0.00756
NM_152281.3(GORAB):c.*534T>C rs41272499 0.00754
NM_012463.4(ATP6V0A2):c.*1064G>A rs7980215 0.00751
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val) rs143907597 0.00750
NM_012463.4(ATP6V0A2):c.*1837T>C rs115183932 0.00749
NM_030777.4(SLC2A10):c.1548-18G>A rs113496485 0.00749
NM_012463.4(ATP6V0A2):c.*3357G>C rs7297473 0.00748
NM_030777.4(SLC2A10):c.*478G>A rs113058599 0.00747
NM_030777.4(SLC2A10):c.*32T>C rs78864327 0.00746
NM_006907.4(PYCR1):c.*68C>T rs113083225 0.00744
NM_030777.4(SLC2A10):c.*513T>C rs111352987 0.00743
NM_012463.4(ATP6V0A2):c.*2710G>A rs145999411 0.00742
NM_030777.4(SLC2A10):c.*641G>A rs113629687 0.00741
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447 0.00731
NM_000501.4(ELN):c.1622-13C>T rs41362346 0.00728
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) rs7969410 0.00727
NM_000501.4(ELN):c.*548G>A rs117454480 0.00696
NM_006907.4(PYCR1):c.540+11C>T rs149159844 0.00674
NM_012463.4(ATP6V0A2):c.1872G>A (p.Leu624=) rs73420342 0.00672
NM_018993.4(RIN2):c.84C>T (p.Ile28=) rs181853315 0.00670
NM_012463.4(ATP6V0A2):c.117+14G>A rs144930749 0.00652
NM_030777.4(SLC2A10):c.*809C>T rs114681513 0.00646
NM_012463.4(ATP6V0A2):c.*191T>C rs150408179 0.00628
NM_012463.4(ATP6V0A2):c.*3000G>A rs183891010 0.00622
NM_012463.4(ATP6V0A2):c.*3665T>G rs2651 0.00616
NM_002860.4(ALDH18A1):c.*140C>T rs76824727 0.00570
NM_030777.4(SLC2A10):c.*958C>T rs189464814 0.00562
NM_002860.4(ALDH18A1):c.*56T>A rs114393346 0.00549
NM_006329.4(FBLN5):c.*423T>C rs17731705 0.00543
NM_001042545.2(LTBP4):c.1441A>G (p.Met481Val) rs116005784 0.00542
NM_001042545.2(LTBP4):c.891C>T (p.Gly297=) rs374427407 0.00535
NM_152281.3(GORAB):c.618C>T (p.Leu206=) rs35872826 0.00535
NM_030777.4(SLC2A10):c.1617G>A (p.Ala539=) rs114974138 0.00514
NM_000052.7(ATP7A):c.610+8G>A rs144616937 0.00506
NM_000501.4(ELN):c.1388A>G (p.Lys463Arg) rs34945509 0.00505
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130 0.00500
NM_002860.4(ALDH18A1):c.2207-3C>T rs149309642 0.00472
NM_003573.2(LTBP4):c.2389+9A>G rs73544980 0.00471
NM_006329.4(FBLN5):c.502+15G>C rs190933127 0.00456
NM_030777.4(SLC2A10):c.*1449T>C rs181344940 0.00451
NM_000501.4(ELN):c.*172G>A rs56120764 0.00427
NM_012463.4(ATP6V0A2):c.*2876A>T rs191476665 0.00418
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=) rs34990188 0.00411
NM_012463.4(ATP6V0A2):c.*998T>C rs12298446 0.00401
NM_016938.5(EFEMP2):c.161-10C>T rs2234461 0.00387
NM_000052.7(ATP7A):c.4226+11T>C rs200009243 0.00383
NM_000501.4(ELN):c.*1195C>T rs115872030 0.00381
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys) rs61742278 0.00380
NM_016938.5(EFEMP2):c.138C>T (p.Asp46=) rs2234457 0.00375
NM_000501.4(ELN):c.*429C>T rs62476387 0.00365
NM_030777.4(SLC2A10):c.1212G>T (p.Gly404=) rs139155480 0.00363
NM_003573.2(LTBP4):c.79C>T (p.Leu27=) rs370696272 0.00357
NM_000052.7(ATP7A):c.491G>A (p.Ser164Asn) rs144655617 0.00356
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser) rs2234462 0.00344
NM_016938.5(EFEMP2):c.368-18G>A rs80047413 0.00337
NM_002860.4(ALDH18A1):c.*292C>T rs78053774 0.00329
NM_000501.4(ELN):c.921A>G (p.Ala307=) rs6979788 0.00327
NM_002860.4(ALDH18A1):c.2001G>A (p.Glu667=) rs78731297 0.00326
NM_006329.4(FBLN5):c.620-8T>C rs147699855 0.00324
NM_030777.4(SLC2A10):c.*180A>G rs188370349 0.00321
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp) rs41511151 0.00318
NM_001042545.2(LTBP4):c.1238G>A (p.Gly413Asp) rs114749335 0.00315
NM_012463.4(ATP6V0A2):c.-117C>T rs532360215 0.00315
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His) rs34295241 0.00302
NM_001042545.2(LTBP4):c.1491G>T (p.Arg497=) rs117273116 0.00290
NM_000501.4(ELN):c.1828G>A (p.Gly610Ser) rs140425210 0.00288
NM_000501.4(ELN):c.1566T>A (p.Gly522=) rs61734584 0.00283
NM_001042545.2(LTBP4):c.2451G>A (p.Glu817=) rs191216887 0.00282
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp) rs148765730 0.00280
NM_016938.5(EFEMP2):c.368-11G>A rs181514768 0.00272
NM_006329.4(FBLN5):c.*647C>T rs10197 0.00262
NM_012463.4(ATP6V0A2):c.*785T>C rs146660715 0.00262
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) rs138716143 0.00258
NM_030777.4(SLC2A10):c.*389C>G rs147684335 0.00243
NM_030777.4(SLC2A10):c.*29C>G rs34965637 0.00241
NM_030777.4(SLC2A10):c.1548G>T (p.Arg516=) rs116344406 0.00241
NM_006329.4(FBLN5):c.-411A>G rs143296045 0.00240
NM_030777.4(SLC2A10):c.*194G>T rs192739192 0.00240
NM_006907.4(PYCR1):c.*477C>T rs539637881 0.00236
NM_016938.5(EFEMP2):c.*115G>A rs187686630 0.00223
NM_016938.5(EFEMP2):c.368-4G>A rs111550973 0.00223
NM_006329.4(FBLN5):c.-152C>T rs139387007 0.00199
NM_006329.4(FBLN5):c.376G>A (p.Val126Met) rs61734479 0.00199
NM_030777.4(SLC2A10):c.*1272G>C rs562491351 0.00185
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=) rs2234473 0.00178
NM_018993.4(RIN2):c.1851C>T (p.Ala617=) rs180817901 0.00173
NM_030777.4(SLC2A10):c.-15C>T rs377142129 0.00166
NM_152281.3(GORAB):c.*1127T>G rs542501839 0.00159
NM_012463.4(ATP6V0A2):c.*2618A>G rs193208741 0.00155
NM_002860.4(ALDH18A1):c.2232G>A (p.Ser744=) rs148601288 0.00153
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) rs138886791 0.00150
NM_006907.4(PYCR1):c.261G>A (p.Glu87=) rs138261889 0.00144
NM_000501.4(ELN):c.1861G>A (p.Ala621Thr) rs150404125 0.00142
NM_006329.4(FBLN5):c.*648G>A rs182435130 0.00140
NM_001042545.2(LTBP4):c.2909C>G (p.Pro970Arg) rs200667255 0.00135
NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=) rs117709404 0.00134
NM_006329.4(FBLN5):c.714T>A (p.Leu238=) rs141152607 0.00134
NM_002860.4(ALDH18A1):c.*227A>G rs943341 0.00129
NM_001042545.2(LTBP4):c.858G>A (p.Gly286=) rs146234365 0.00128
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=) rs117587497 0.00128
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706 0.00122
NM_152281.3(GORAB):c.*1063T>A rs577629045 0.00121
NM_002860.4(ALDH18A1):c.-29+10G>A rs571140165 0.00119
NM_000052.7(ATP7A):c.1768A>G (p.Arg590Gly) rs146887876 0.00117
NM_030777.4(SLC2A10):c.630C>T (p.Gly210=) rs142431229 0.00113
NM_002860.4(ALDH18A1):c.1308G>A (p.Leu436=) rs144816455 0.00112
NM_012463.4(ATP6V0A2):c.*2929C>G rs145602576 0.00111
NM_000501.4(ELN):c.1821G>C (p.Gly607=) rs144835575 0.00109
NM_002860.3(ALDH18A1):c.-223C>G rs566221549 0.00105
NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser) rs144320036 0.00104
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610 0.00100
NM_016938.5(EFEMP2):c.990G>A (p.Pro330=) rs61740381 0.00098
NM_006907.4(PYCR1):c.334C>T (p.Arg112Trp) rs147653673 0.00097
NM_016938.5(EFEMP2):c.738G>A (p.Glu246=) rs144780990 0.00092
NM_001042545.2(LTBP4):c.2436G>A (p.Val812=) rs371083223 0.00090
NM_006907.4(PYCR1):c.*352C>G rs149456432 0.00090
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563 0.00089
NM_012463.4(ATP6V0A2):c.*1681G>A rs575925916 0.00089
NM_012463.4(ATP6V0A2):c.*577C>T rs577796265 0.00089
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) rs150508296 0.00088
NM_012463.4(ATP6V0A2):c.1189+12G>T rs377235629 0.00085
NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala) rs148410446 0.00085
NM_001042545.2(LTBP4):c.2681-10C>G rs200914063 0.00084
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049 0.00082
NM_152281.3(GORAB):c.*1217T>C rs77280970 0.00081
NM_000501.4(ELN):c.259T>C (p.Phe87Leu) rs140411170 0.00080
NM_000052.7(ATP7A):c.3475A>G (p.Thr1159Ala) rs138154934 0.00078
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=) rs80355657 0.00078
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006 0.00077
NM_000501.4(ELN):c.1232T>G (p.Val411Gly) rs200180992 0.00073
NM_000501.4(ELN):c.212C>T (p.Ala71Val) rs41350445 0.00073
NM_001042545.2(LTBP4):c.1324C>T (p.Arg442Cys) rs199875504 0.00071
NM_030777.4(SLC2A10):c.1010G>C (p.Gly337Ala) rs150745395 0.00071
NM_002860.4(ALDH18A1):c.2160C>T (p.Phe720=) rs374052426 0.00070
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr) rs138039591 0.00069
NM_001042545.2(LTBP4):c.1825A>G (p.Thr609Ala) rs201279198 0.00069
NM_016938.5(EFEMP2):c.*282C>T rs572394429 0.00068
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val) rs2234938 0.00066
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=) rs142106322 0.00065
NM_012463.4(ATP6V0A2):c.*1122A>G rs3827881 0.00064
NM_006907.4(PYCR1):c.*440C>T rs562300433 0.00063
NM_030777.4(SLC2A10):c.1415C>T (p.Thr472Ile) rs563376340 0.00061
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) rs146692150 0.00060
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr) rs150526992 0.00060
NM_016938.5(EFEMP2):c.714C>T (p.Gly238=) rs2234467 0.00060
NM_012463.4(ATP6V0A2):c.*1599C>T rs534414817 0.00059
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val) rs139781067 0.00058
NM_000501.4(ELN):c.1507G>A (p.Val503Met) rs41523046 0.00057
NM_001042545.2(LTBP4):c.2235G>A (p.Ser745=) rs374862225 0.00057
NM_016938.5(EFEMP2):c.27C>G (p.Pro9=) rs144817331 0.00057
NM_030777.4(SLC2A10):c.*401C>A rs142547155 0.00056
NM_001042545.2(LTBP4):c.2238C>T (p.Pro746=) rs201588216 0.00055
NM_000501.4(ELN):c.470-10C>G rs200663056 0.00053
NM_002860.4(ALDH18A1):c.*698G>A rs557388312 0.00052
NM_001042545.2(LTBP4):c.1882C>T (p.Arg628Cys) rs200338042 0.00051
NM_006329.4(FBLN5):c.*363C>T rs536827304 0.00049
NM_000052.7(ATP7A):c.3801+6T>C rs181665434 0.00048
NM_000501.4(ELN):c.278C>T (p.Pro93Leu) rs181019457 0.00048
NM_016938.5(EFEMP2):c.570G>A (p.Pro190=) rs145853251 0.00048
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687 0.00046
NM_016938.5(EFEMP2):c.99C>T (p.Pro33=) rs140946753 0.00045
NM_030777.4(SLC2A10):c.1548-19C>T rs144623242 0.00044
NM_016938.5(EFEMP2):c.1170+17C>T rs200146991 0.00043
NM_002860.4(ALDH18A1):c.1314C>T (p.Ile438=) rs150526956 0.00042
NM_002860.4(ALDH18A1):c.1381G>A (p.Ala461Thr) rs150429857 0.00042
NM_002860.3(ALDH18A1):c.*829C>T rs375868871 0.00041
NM_016938.5(EFEMP2):c.728-3C>T rs377139656 0.00041
NM_000501.4(ELN):c.326G>A (p.Gly109Asp) rs145519139 0.00040
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala) rs201788154 0.00039
NM_030777.4(SLC2A10):c.*410A>C rs146660985 0.00039
NM_000501.4(ELN):c.*238C>T rs546341976 0.00038
NM_001042545.2(LTBP4):c.284T>C (p.Val95Ala) rs200888669 0.00038
NM_012463.4(ATP6V0A2):c.*2759T>C rs550259483 0.00038
NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=) rs371939448 0.00037
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=) rs75746974 0.00037
NM_016938.5(EFEMP2):c.259G>A (p.Val87Ile) rs149525720 0.00037
NM_000052.7(ATP7A):c.610+19A>G rs367724628 0.00036
NM_000052.7(ATP7A):c.864T>C (p.Cys288=) rs142521666 0.00036
NM_012463.4(ATP6V0A2):c.522-9G>A rs189175284 0.00036
NM_016938.4(EFEMP2):c.-229G>C rs886048510 0.00036
NM_016938.5(EFEMP2):c.-13G>A rs886048507 0.00036
NM_152281.3(GORAB):c.625C>T (p.Arg209Trp) rs138502097 0.00036
NM_002860.4(ALDH18A1):c.*734C>A rs184009046 0.00035
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr) rs143142641 0.00035
NM_000501.4(ELN):c.1358-199G>A rs781963901 0.00034
NM_000501.4(ELN):c.366A>G (p.Gly122=) rs61734587 0.00034
NM_000501.4(ELN):c.647G>T (p.Gly216Val) rs145612009 0.00034
NM_000501.4(ELN):c.931G>A (p.Ala311Thr) rs41376344 0.00034
NM_001042545.2(LTBP4):c.4604G>A (p.Cys1535Tyr) rs200665923 0.00034
NM_030777.4(SLC2A10):c.*1758A>C rs529567587 0.00034
NM_030777.4(SLC2A10):c.676G>A (p.Asp226Asn) rs142402955 0.00034
NM_006329.4(FBLN5):c.*121C>T rs548351890 0.00033
NM_012463.4(ATP6V0A2):c.1327-16G>A rs149092701 0.00033
NM_012463.4(ATP6V0A2):c.1766C>T (p.Pro589Leu) rs149700024 0.00033
NM_030777.4(SLC2A10):c.1289-6C>T rs199967429 0.00033
NM_152281.3(GORAB):c.*1298T>C rs185248405 0.00033
NM_000501.4(ELN):c.2109C>T (p.Phe703=) rs149755814 0.00032
NM_002860.4(ALDH18A1):c.492C>T (p.Ala164=) rs150472102 0.00032
NM_002860.4(ALDH18A1):c.933+13T>C rs201520042 0.00032
NM_018993.4(RIN2):c.41G>A (p.Arg14Gln) rs367797077 0.00032
NM_000501.4(ELN):c.1884C>T (p.Ala628=) rs372315353 0.00031
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser) rs142316834 0.00031
NM_001042545.2(LTBP4):c.*121C>G rs551134075 0.00031
NM_006907.4(PYCR1):c.399C>T (p.Thr133=) rs148883988 0.00031
NM_030777.4(SLC2A10):c.746A>G (p.Asn249Ser) rs531533787 0.00031
NM_006907.4(PYCR1):c.*62G>C rs566605955 0.00030
NM_018993.4(RIN2):c.797A>T (p.Asn266Ile) rs201551000 0.00030
NM_000501.4(ELN):c.*562A>C rs539096901 0.00029
NM_006907.4(PYCR1):c.285C>T (p.Cys95=) rs113491328 0.00029
NM_030777.4(SLC2A10):c.696C>G (p.Thr232=) rs138679634 0.00029
NM_000052.7(ATP7A):c.2709C>T (p.Cys903=) rs140838569 0.00028
NM_006907.4(PYCR1):c.615C>T (p.Leu205=) rs755711481 0.00028
NM_000052.7(ATP7A):c.282G>A (p.Ala94=) rs370700841 0.00027
NM_000501.4(ELN):c.1909G>A (p.Ala637Thr) rs536177240 0.00026
NM_006329.4(FBLN5):c.143C>T (p.Thr48Ile) rs141200859 0.00026
NM_006329.4(FBLN5):c.989+9C>T rs557362799 0.00026
NM_012463.4(ATP6V0A2):c.*2198C>T rs886049073 0.00026
NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn) rs144499089 0.00026
NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile) rs139932041 0.00026
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile) rs782268170 0.00025
NM_000052.7(ATP7A):c.3613G>C (p.Glu1205Gln) rs782349186 0.00025
NM_000501.4(ELN):c.930C>T (p.Ala310=) rs147367888 0.00025
NM_006329.4(FBLN5):c.862+12C>T rs202088447 0.00025
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val) rs143802431 0.00025
NM_000052.7(ATP7A):c.1510G>A (p.Ala504Thr) rs781786942 0.00024
NM_000501.4(ELN):c.861G>A (p.Gly287=) rs368610108 0.00024
NM_002860.4(ALDH18A1):c.1153-13A>G rs370680325 0.00024
NM_002860.4(ALDH18A1):c.76G>A (p.Val26Ile) rs200242907 0.00024
NM_006907.4(PYCR1):c.508G>A (p.Val170Ile) rs199585131 0.00024
NM_012463.4(ATP6V0A2):c.*1803C>T rs117646592 0.00024
NM_030777.4(SLC2A10):c.1079A>G (p.Asn360Ser) rs139117495 0.00024
NM_152281.3(GORAB):c.*1039A>G rs777070030 0.00024
NM_012463.4(ATP6V0A2):c.994G>A (p.Glu332Lys) rs144949442 0.00023
NM_030777.4(SLC2A10):c.*1731C>T rs762351956 0.00023
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly) rs144095826 0.00023
NM_198841.4(FAM120AOS):c.743C>T (p.Thr248Ile) rs140119177 0.00023
NM_000052.7(ATP7A):c.177A>G (p.Pro59=) rs142463642 0.00022
NM_002860.4(ALDH18A1):c.1253T>A (p.Leu418His) rs201069261 0.00022
NM_016938.5(EFEMP2):c.1026C>T (p.Ser342=) rs2234471 0.00022
NM_016938.5(EFEMP2):c.409A>T (p.Ser137Cys) rs1306393544 0.00022
NM_000501.4(ELN):c.1373C>A (p.Ala458Glu) rs149117932 0.00021
NM_002860.4(ALDH18A1):c.37T>A (p.Phe13Ile) rs376664715 0.00021
NM_006329.4(FBLN5):c.621T>C (p.Asp207=) rs200178859 0.00021
NM_006907.4(PYCR1):c.-196G>A rs764095488 0.00021
NM_012463.4(ATP6V0A2):c.*271A>G rs886049064 0.00021
NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=) rs367950442 0.00021
NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=) rs140835376 0.00021
NM_018993.4(RIN2):c.2398A>T (p.Ser800Cys) rs368984007 0.00021
NM_030777.4(SLC2A10):c.1481A>G (p.Tyr494Cys) rs374854180 0.00021
NM_152281.3(GORAB):c.663-12A>G rs201410218 0.00021
NM_152281.3(GORAB):c.941C>T (p.Ala314Val) rs187680628 0.00021
NM_000052.7(ATP7A):c.2519A>T (p.Glu840Val) rs372318616 0.00020
NM_000052.7(ATP7A):c.2607A>G (p.Val869=) rs61053012 0.00020
NM_000501.4(ELN):c.1994-7T>G rs375277198 0.00020
NM_002860.4(ALDH18A1):c.96C>A (p.Ile32=) rs11541779 0.00020
NM_000501.4(ELN):c.*95C>T rs181078432 0.00019
NM_000501.4(ELN):c.381G>A (p.Ala127=) rs148216123 0.00019
NM_006329.4(FBLN5):c.1241G>A (p.Arg414Gln) rs142907552 0.00019
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser) rs144288844 0.00019
NM_012463.4(ATP6V0A2):c.1430A>T (p.Asn477Ile) rs532258057 0.00019
NM_016938.5(EFEMP2):c.977G>A (p.Arg326His) rs141868759 0.00019
NM_030777.4(SLC2A10):c.1008C>T (p.Thr336=) rs370173604 0.00019
NM_030777.4(SLC2A10):c.1593G>A (p.Pro531=) rs148424607 0.00019
NM_030777.4(SLC2A10):c.388C>T (p.Arg130Trp) rs201150247 0.00019
NM_030777.4(SLC2A10):c.781G>A (p.Val261Ile) rs372561968 0.00019
NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr) rs201225704 0.00018
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp) rs372489000 0.00018
NM_000501.4(ELN):c.1467C>T (p.Val489=) rs200512332 0.00017
NM_006907.4(PYCR1):c.176C>T (p.Thr59Met) rs150227130 0.00017
NM_016938.5(EFEMP2):c.810A>G (p.Pro270=) rs150546623 0.00017
NM_000052.7(ATP7A):c.1954C>T (p.Arg652Trp) rs377714939 0.00016
NM_000501.4(ELN):c.1338C>T (p.Ala446=) rs146576615 0.00016
NM_000501.4(ELN):c.249C>T (p.Pro83=) rs565001805 0.00016
NM_006907.4(PYCR1):c.*307G>T rs201670221 0.00016
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=) rs142509316 0.00016
NM_030777.4(SLC2A10):c.780C>T (p.Ser260=) rs181500247 0.00016
NM_152281.3(GORAB):c.920T>G (p.Leu307Ter) rs145659887 0.00016
NM_000052.7(ATP7A):c.1737A>G (p.Val579=) rs189353691 0.00015
NM_000052.7(ATP7A):c.3479C>T (p.Ser1160Leu) rs149576827 0.00015
NM_000501.4(ELN):c.1675G>A (p.Val559Ile) rs560081099 0.00015
NM_000501.4(ELN):c.232+3G>A rs377172364 0.00015
NM_002860.4(ALDH18A1):c.148A>G (p.Thr50Ala) rs374047257 0.00015
NM_016938.5(EFEMP2):c.422A>T (p.His141Leu) rs148315164 0.00015
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val) rs201393026 0.00015
NM_030777.4(SLC2A10):c.315C>T (p.Arg105=) rs150800734 0.00015
NM_030777.4(SLC2A10):c.808G>A (p.Val270Met) rs749220947 0.00015
NM_152281.3(GORAB):c.*102G>A rs555373548 0.00015
NM_000052.7(ATP7A):c.312A>G (p.Gln104=) rs146414063 0.00014
NM_000052.7(ATP7A):c.3153C>T (p.His1051=) rs142998552 0.00014
NM_000501.4(ELN):c.*489G>T rs886062432 0.00014
NM_000501.4(ELN):c.1317C>T (p.Pro439=) rs201861098 0.00014
NM_001042545.2(LTBP4):c.2431+11T>C rs370485510 0.00014
NM_001042545.2(LTBP4):c.3478G>A (p.Glu1160Lys) rs778595954 0.00014
NM_002860.4(ALDH18A1):c.1376G>A (p.Arg459Gln) rs771386671 0.00014
NM_002860.4(ALDH18A1):c.2335A>G (p.Ser779Gly) rs143874727 0.00014
NM_002860.4(ALDH18A1):c.959A>G (p.Gln320Arg) rs143635402 0.00014
NM_002860.4(ALDH18A1):c.986A>G (p.Asn329Ser) rs141291042 0.00014
NM_006329.4(FBLN5):c.1191G>A (p.Thr397=) rs148660796 0.00014
NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys) rs121918376 0.00014
NM_016938.5(EFEMP2):c.1095G>A (p.Ala365=) rs369627072 0.00014
NM_030777.4(SLC2A10):c.1324G>C (p.Glu442Gln) rs143265363 0.00014
NM_030777.4(SLC2A10):c.1453A>G (p.Thr485Ala) rs138245283 0.00014
NM_030777.4(SLC2A10):c.1600C>T (p.Arg534Cys) rs142577271 0.00014
NM_152281.3(GORAB):c.83G>A (p.Arg28His) rs144383104 0.00014
NM_000052.7(ATP7A):c.3621G>A (p.Glu1207=) rs141535376 0.00013
NM_000501.4(ELN):c.1339G>A (p.Ala447Thr) rs139335797 0.00013
NM_001042545.2(LTBP4):c.2176G>C (p.Glu726Gln) rs199691160 0.00013
NM_002860.3(ALDH18A1):c.-166T>C rs185345785 0.00013
NM_006907.4(PYCR1):c.-48G>C rs376495113 0.00013
NM_012463.4(ATP6V0A2):c.*2833A>T rs117111955 0.00013
NM_012463.4(ATP6V0A2):c.*3505A>G rs868846588 0.00013
NM_000052.7(ATP7A):c.1138G>A (p.Val380Met) rs149523862 0.00012
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys) rs374162669 0.00012
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met) rs539177302 0.00012
NM_000052.7(ATP7A):c.3210C>T (p.His1070=) rs185917115 0.00012
NM_000501.4(ELN):c.35G>T (p.Gly12Val) rs367634266 0.00012
NM_000501.4(ELN):c.710G>C (p.Gly237Ala) rs934014841 0.00012
NM_006329.4(FBLN5):c.604G>A (p.Gly202Arg) rs80338765 0.00012
NM_006907.4(PYCR1):c.329C>T (p.Ala110Val) rs138195513 0.00012
NM_012463.4(ATP6V0A2):c.*3159G>A rs539564846 0.00012
NM_012463.4(ATP6V0A2):c.539T>C (p.Ile180Thr) rs754727464 0.00012
NM_016938.5(EFEMP2):c.1101C>T (p.Ser367=) rs112355691 0.00012
NM_030777.4(SLC2A10):c.*191C>T rs774020636 0.00012
NM_030777.4(SLC2A10):c.1571G>A (p.Arg524Lys) rs370141550 0.00012
NM_152281.3(GORAB):c.626G>A (p.Arg209Gln) rs200802067 0.00012
NM_000052.7(ATP7A):c.3659-12C>T rs1012193744 0.00011
NM_000501.4(ELN):c.1825C>T (p.Leu609Phe) rs200133966 0.00011
NM_000501.4(ELN):c.202G>A (p.Gly68Arg) rs372566075 0.00011
NM_002860.4(ALDH18A1):c.1152+8_1152+9del rs373488364 0.00011
NM_002860.4(ALDH18A1):c.1946A>G (p.Lys649Arg) rs145197911 0.00011
NM_006907.4(PYCR1):c.*150C>T rs968788815 0.00011
NM_012463.4(ATP6V0A2):c.*3166C>T rs777687879 0.00011
NM_012463.4(ATP6V0A2):c.2505C>G (p.Thr835=) rs535703391 0.00011
NM_016938.5(EFEMP2):c.1065C>A (p.Ser355Arg) rs377646143 0.00011
NM_016938.5(EFEMP2):c.975-11G>A rs376275864 0.00011
NM_018993.4(RIN2):c.2518G>A (p.Val840Ile) rs188424417 0.00011
NM_030777.4(SLC2A10):c.*116C>T rs377528530 0.00011
NM_030777.4(SLC2A10):c.1204G>A (p.Ala402Thr) rs147710229 0.00011
NM_030777.4(SLC2A10):c.1411+2T>A rs761721442 0.00011
NM_030777.4(SLC2A10):c.1547+19G>A rs546525339 0.00011
NM_152281.3(GORAB):c.-53C>A rs150688009 0.00011
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr) rs368622356 0.00010
NM_000501.4(ELN):c.*570G>A rs565400803 0.00010
NM_000501.4(ELN):c.1271G>A (p.Gly424Glu) rs782725817 0.00010
NM_000501.4(ELN):c.460G>A (p.Val154Met) rs145669576 0.00010
NM_002860.4(ALDH18A1):c.219C>T (p.Ile73=) rs148228931 0.00010
NM_002860.4(ALDH18A1):c.4T>C (p.Leu2=) rs755446179 0.00010
NM_002860.4(ALDH18A1):c.589G>C (p.Glu197Gln) rs201691969 0.00010
NM_003573.2(LTBP4):c.254del (p.Leu85fs) rs747013505 0.00010
NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp) rs28939073 0.00010
NM_012463.4(ATP6V0A2):c.*1454A>G rs3748272 0.00010
NM_012463.4(ATP6V0A2):c.920C>G (p.Ala307Gly) rs752306671 0.00010
NM_016938.5(EFEMP2):c.*305C>T rs886048504 0.00010
NM_030777.4(SLC2A10):c.1208G>A (p.Arg403Gln) rs199912561 0.00010
NM_030777.4(SLC2A10):c.330C>T (p.Phe110=) rs199848479 0.00010
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173 0.00010
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp) rs146579504 0.00010
NM_000052.7(ATP7A):c.1385C>T (p.Pro462Leu) rs201999500 0.00009
NM_000052.7(ATP7A):c.2407-14G>T rs782184126 0.00009
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His) rs367775730 0.00009
NM_000052.7(ATP7A):c.3623G>T (p.Arg1208Ile) rs146392305 0.00009
NM_000501.4(ELN):c.*532C>T rs939778506 0.00009
NM_000501.4(ELN):c.*591C>T rs782460313 0.00009
NM_001042545.2(LTBP4):c.443-14C>T rs375934176 0.00009
NM_002860.4(ALDH18A1):c.1248G>A (p.Gly416=) rs757733068 0.00009
NM_002860.4(ALDH18A1):c.1264C>G (p.Leu422Val) rs142712849 0.00009
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys) rs762742204 0.00009
NM_002860.4(ALDH18A1):c.194G>T (p.Ser65Ile) rs142746793 0.00009
NM_006329.4(FBLN5):c.*98G>A rs568348723 0.00009
NM_006907.4(PYCR1):c.180G>A (p.Val60=) rs142458410 0.00009
NM_012463.4(ATP6V0A2):c.*3042T>G rs886049076 0.00009
NM_012463.4(ATP6V0A2):c.*742G>A rs964496583 0.00009
NM_012463.4(ATP6V0A2):c.1096C>T (p.Pro366Ser) rs372416067 0.00009
NM_012463.4(ATP6V0A2):c.1524C>T (p.Val508=) rs182439983 0.00009
NM_012463.4(ATP6V0A2):c.28A>G (p.Met10Val) rs758214692 0.00009
NM_016938.5(EFEMP2):c.531C>T (p.Cys177=) rs762305922 0.00009
NM_016938.5(EFEMP2):c.882C>T (p.Cys294=) rs371712739 0.00009
NM_018993.4(RIN2):c.404G>A (p.Arg135His) rs200460217 0.00009
NM_030777.4(SLC2A10):c.*2203C>A rs528071290 0.00009
NM_030777.4(SLC2A10):c.1225C>T (p.Arg409Cys) rs562212724 0.00009
NM_030777.4(SLC2A10):c.1412-3C>T rs374857656 0.00009
NM_152281.3(GORAB):c.719G>A (p.Arg240His) rs149924639 0.00009
NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly) rs782196306 0.00008
NM_000052.7(ATP7A):c.1615C>A (p.Pro539Thr) rs781817601 0.00008
NM_000052.7(ATP7A):c.1947-3A>G rs782237008 0.00008
NM_000052.7(ATP7A):c.4364G>A (p.Arg1455Gln) rs147848649 0.00008
NM_000052.7(ATP7A):c.922A>G (p.Ile308Val) rs782351352 0.00008
NM_000501.4(ELN):c.*644G>A rs759507028 0.00008
NM_001042545.2(LTBP4):c.1217G>A (p.Arg406His) rs574587568 0.00008
NM_001042545.2(LTBP4):c.698C>T (p.Ser233Phe) rs886054445 0.00008
NM_002860.4(ALDH18A1):c.678C>T (p.Val226=) rs772829720 0.00008
NM_002860.4(ALDH18A1):c.868G>A (p.Gly290Arg) rs368147360 0.00008
NM_006329.4(FBLN5):c.*426C>T rs553193064 0.00008
NM_006329.4(FBLN5):c.1113G>A (p.Thr371=) rs560780691 0.00008
NM_006907.4(PYCR1):c.633+1G>C rs144346996 0.00008
NM_006907.4(PYCR1):c.768C>T (p.Asn256=) rs553609380 0.00008
NM_012463.4(ATP6V0A2):c.*2454T>C rs776825961 0.00008
NM_012463.4(ATP6V0A2):c.1698A>G (p.Gly566=) rs2271659 0.00008
NM_012463.4(ATP6V0A2):c.776G>A (p.Arg259Gln) rs377561982 0.00008
NM_016938.5(EFEMP2):c.848-16C>T rs773386551 0.00008
NM_030777.4(SLC2A10):c.1344C>T (p.Phe448=) rs553831434 0.00008
NM_030777.4(SLC2A10):c.162G>C (p.Leu54=) rs778830075 0.00008
NM_152281.3(GORAB):c.-21G>A rs149401558 0.00008
NM_000052.7(ATP7A):c.1941A>G (p.Ile647Met) rs781844108 0.00007
NM_000052.7(ATP7A):c.207G>A (p.Met69Ile) rs782290331 0.00007
NM_000052.7(ATP7A):c.209G>A (p.Gly70Asp) rs782415705 0.00007
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val) rs368917354 0.00007
NM_000052.7(ATP7A):c.4306G>A (p.Val1436Ile) rs781873881 0.00007
NM_000501.4(ELN):c.1537G>A (p.Val513Ile) rs372788076 0.00007
NM_000501.4(ELN):c.403G>A (p.Gly135Arg) rs373650953 0.00007
NM_002860.4(ALDH18A1):c.-5G>A rs371024575 0.00007
NM_002860.4(ALDH18A1):c.1604T>A (p.Leu535Gln) rs200452017 0.00007
NM_002860.4(ALDH18A1):c.2110+13A>G rs375782465 0.00007
NM_002860.4(ALDH18A1):c.973G>A (p.Val325Ile) rs192770256 0.00007
NM_006329.4(FBLN5):c.-413C>T rs886050892 0.00007
NM_006907.4(PYCR1):c.*245T>C rs376135136 0.00007
NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr) rs281875318 0.00007
NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln) rs121918374 0.00007
NM_006907.4(PYCR1):c.902C>T (p.Ser301Leu) rs373840170 0.00007
NM_016938.5(EFEMP2):c.727+11C>T rs369000940 0.00007
NM_016938.5(EFEMP2):c.847+13C>T rs762497696 0.00007
NM_016938.5(EFEMP2):c.975-15C>T rs768211662 0.00007
NM_018993.4(RIN2):c.2436C>T (p.Tyr812=) rs540923982 0.00007
NM_030777.4(SLC2A10):c.1559G>A (p.Ser520Asn) rs573480396 0.00007
NM_030777.4(SLC2A10):c.581C>T (p.Thr194Ile) rs763889166 0.00007
NM_030777.4(SLC2A10):c.792T>C (p.His264=) rs377031320 0.00007
NM_152281.3(GORAB):c.188A>G (p.Glu63Gly) rs200333798 0.00007
NM_152281.3(GORAB):c.522-9A>T rs185701616 0.00007
NM_000052.7(ATP7A):c.1677T>G (p.Ala559=) rs149841982 0.00006
NM_000052.7(ATP7A):c.1893G>C (p.Leu631Phe) rs372898963 0.00006
NM_000052.7(ATP7A):c.1934G>A (p.Arg645Gln) rs782729433 0.00006
NM_000052.7(ATP7A):c.2892T>C (p.Phe964=) rs781832055 0.00006
NM_000052.7(ATP7A):c.3632G>A (p.Arg1211Gln) rs782166627 0.00006
NM_000052.7(ATP7A):c.493A>G (p.Met165Val) rs782097214 0.00006
NM_000052.7(ATP7A):c.748A>G (p.Ile250Val) rs1189996419 0.00006
NM_000052.7(ATP7A):c.824A>G (p.Asn275Ser) rs368147403 0.00006
NM_000501.4(ELN):c.*629T>C rs776424755 0.00006
NM_000501.4(ELN):c.1150+1G>A rs727503030 0.00006
NM_000501.4(ELN):c.1234G>A (p.Gly412Arg) rs375116795 0.00006
NM_000501.4(ELN):c.1543G>A (p.Val515Met) rs376258672 0.00006
NM_000501.4(ELN):c.2032G>A (p.Gly678Ser) rs375579231 0.00006
NM_000501.4(ELN):c.659C>T (p.Pro220Leu) rs201012726 0.00006
NM_000501.4(ELN):c.886G>A (p.Ala296Thr) rs782335529 0.00006
NM_001042545.2(LTBP4):c.2157C>G (p.Asn719Lys) rs770079010 0.00006
NM_001042545.2(LTBP4):c.3446G>C (p.Ser1149Thr) rs375879929 0.00006
NM_002860.4(ALDH18A1):c.*293G>A rs913851343 0.00006
NM_002860.4(ALDH18A1):c.-140G>A rs931860076 0.00006
NM_002860.4(ALDH18A1):c.1467+16G>A rs371225175 0.00006
NM_002860.4(ALDH18A1):c.1568C>T (p.Ala523Val) rs529294368 0.00006
NM_002860.4(ALDH18A1):c.1596C>T (p.Ala532=) rs200730342 0.00006
NM_002860.4(ALDH18A1):c.1631A>G (p.Asp544Gly) rs372744264 0.00006
NM_002860.4(ALDH18A1):c.1867G>A (p.Asp623Asn) rs770815414 0.00006
NM_006907.4(PYCR1):c.110T>G (p.Met37Arg) rs138792258 0.00006
NM_006907.4(PYCR1):c.752G>A (p.Arg251His) rs121918378 0.00006
NM_012463.4(ATP6V0A2):c.*1252A>G rs141136421 0.00006
NM_012463.4(ATP6V0A2):c.*1799A>C rs755729836 0.00006
NM_012463.4(ATP6V0A2):c.*2485C>T rs144043973 0.00006
NM_012463.4(ATP6V0A2):c.1112G>A (p.Arg371His) rs199698721 0.00006
NM_012463.4(ATP6V0A2):c.2327G>A (p.Arg776His) rs758922111 0.00006
NM_012463.4(ATP6V0A2):c.2333G>T (p.Gly778Val) rs762614200 0.00006
NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=) rs181112338 0.00006
NM_016938.5(EFEMP2):c.1056G>A (p.Ser352=) rs769127200 0.00006
NM_016938.5(EFEMP2):c.1234G>T (p.Val412Leu) rs146879673 0.00006
NM_016938.5(EFEMP2):c.290C>T (p.Pro97Leu) rs779247685 0.00006
NM_016938.5(EFEMP2):c.363T>C (p.Cys121=) rs746343857 0.00006
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His) rs141310608 0.00006
NM_016938.5(EFEMP2):c.628G>A (p.Gly210Arg) rs546162289 0.00006
NM_016938.5(EFEMP2):c.864G>A (p.Glu288=) rs759514025 0.00006
NM_030777.4(SLC2A10):c.1401C>T (p.Leu467=) rs774586341 0.00006
NM_030777.4(SLC2A10):c.1464C>T (p.Leu488=) rs142639587 0.00006
NM_030777.4(SLC2A10):c.1605C>T (p.Ile535=) rs148470005 0.00006
NM_030777.4(SLC2A10):c.599C>G (p.Pro200Arg) rs75218052 0.00006
NM_030777.4(SLC2A10):c.610G>A (p.Gly204Ser) rs755339268 0.00006
NM_030777.4(SLC2A10):c.797G>T (p.Gly266Val) rs369484751 0.00006
NM_030777.4(SLC2A10):c.949G>A (p.Val317Ile) rs781230863 0.00006
NM_030777.4(SLC2A10):c.961G>A (p.Val321Met) rs372596900 0.00006
NM_152281.3(GORAB):c.1064G>T (p.Cys355Phe) rs149089833 0.00006
NM_152281.3(GORAB):c.952G>A (p.Val318Met) rs199673882 0.00006
NM_000052.7(ATP7A):c.1020G>A (p.Pro340=) rs372232940 0.00005
NM_000052.7(ATP7A):c.1273C>T (p.Leu425=) rs781950759 0.00005
NM_000052.7(ATP7A):c.1309G>A (p.Asp437Asn) rs781927920 0.00005
NM_000052.7(ATP7A):c.1721C>T (p.Thr574Met) rs782076879 0.00005
NM_000052.7(ATP7A):c.1722G>A (p.Thr574=) rs207478437 0.00005
NM_000052.7(ATP7A):c.1772G>A (p.Gly591Glu) rs782566688 0.00005
NM_000052.7(ATP7A):c.2241C>T (p.Asp747=) rs781928652 0.00005
NM_000052.7(ATP7A):c.2673T>G (p.Ala891=) rs782154912 0.00005
NM_000052.7(ATP7A):c.2830T>C (p.Phe944Leu) rs782143115 0.00005
NM_000052.7(ATP7A):c.3117G>T (p.Lys1039Asn) rs1057520234 0.00005
NM_000052.7(ATP7A):c.314G>A (p.Ser105Asn) rs782475540 0.00005
NM_000052.7(ATP7A):c.3480G>A (p.Ser1160=) rs144293453 0.00005
NM_000052.7(ATP7A):c.4246G>A (p.Glu1416Lys) rs781970260 0.00005
NM_000052.7(ATP7A):c.4312G>A (p.Val1438Ile) rs782682493 0.00005
NM_000052.7(ATP7A):c.475G>A (p.Ala159Thr) rs188836609 0.00005
NM_000052.7(ATP7A):c.673A>G (p.Met225Val) rs782619990 0.00005
NM_000501.4(ELN):c.473C>T (p.Ala158Val) rs201137255 0.00005
NM_001042545.2(LTBP4):c.1953G>A (p.Pro651=) rs371903094 0.00005
NM_002860.3(ALDH18A1):c.-189T>C rs886047516 0.00005
NM_006329.4(FBLN5):c.901C>A (p.Leu301Met) rs377360782 0.00005
NM_006907.4(PYCR1):c.866A>G (p.Lys289Arg) rs34575645 0.00005
NM_012463.4(ATP6V0A2):c.*643C>T rs377386130 0.00005
NM_016938.5(EFEMP2):c.111+17C>G rs768070943 0.00005
NM_016938.5(EFEMP2):c.161-6C>G rs773745810 0.00005
NM_016938.5(EFEMP2):c.474C>T (p.Ile158=) rs779614307 0.00005
NM_016938.5(EFEMP2):c.498C>T (p.Asp166=) rs757273990 0.00005
NM_016938.5(EFEMP2):c.607+10G>T rs774887200 0.00005
NM_016938.5(EFEMP2):c.874C>T (p.His292Tyr) rs532989312 0.00005
NM_030777.4(SLC2A10):c.*1000C>T rs886056733 0.00005
NM_030777.4(SLC2A10):c.*1162C>T rs185898725 0.00005
NM_030777.4(SLC2A10):c.*2316C>T rs757116033 0.00005
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys) rs767864243 0.00005
NM_030777.4(SLC2A10):c.395G>A (p.Arg132Gln) rs376346077 0.00005
NM_030777.4(SLC2A10):c.878G>A (p.Arg293His) rs770882223 0.00005
NM_152281.3(GORAB):c.*653T>C rs886045556 0.00005
NM_152281.3(GORAB):c.*980A>T rs544243091 0.00005
NM_152281.3(GORAB):c.-48dup rs759432675 0.00005
NM_152281.3(GORAB):c.-57T>C rs188031069 0.00005
NM_152281.3(GORAB):c.461G>A (p.Arg154Gln) rs749838967 0.00005
NM_000052.7(ATP7A):c.1137T>C (p.Thr379=) rs376042813 0.00004
NM_000052.7(ATP7A):c.1156A>G (p.Met386Val) rs369419911 0.00004
NM_000052.7(ATP7A):c.1270C>T (p.Leu424=) rs139000596 0.00004
NM_000052.7(ATP7A):c.1377G>A (p.Ser459=) rs377355446 0.00004
NM_000052.7(ATP7A):c.2172+7G>T rs782433802 0.00004
NM_000052.7(ATP7A):c.2499-7T>C rs782260332 0.00004
NM_000052.7(ATP7A):c.2619C>T (p.Leu873=) rs1307515001 0.00004
NM_000052.7(ATP7A):c.2657G>A (p.Gly886Asp) rs188175511 0.00004
NM_000052.7(ATP7A):c.3094T>C (p.Leu1032=) rs369055537 0.00004
NM_000052.7(ATP7A):c.3558G>A (p.Glu1186=) rs1325311308 0.00004
NM_000052.7(ATP7A):c.3790A>G (p.Ile1264Val) rs782323741 0.00004
NM_000052.7(ATP7A):c.3863A>G (p.Gln1288Arg) rs375788705 0.00004
NM_000052.7(ATP7A):c.4005+19C>A rs1231604254 0.00004
NM_000052.7(ATP7A):c.4305C>T (p.Ser1435=) rs146052682 0.00004
NM_000052.7(ATP7A):c.645T>C (p.Tyr215=) rs782587854 0.00004
NM_000052.7(ATP7A):c.729G>A (p.Lys243=) rs782326318 0.00004
NM_000052.7(ATP7A):c.765A>G (p.Leu255=) rs781957871 0.00004
NM_000501.4(ELN):c.*664G>A rs952638605 0.00004
NM_000501.4(ELN):c.1674C>T (p.Gly558=) rs182784538 0.00004
NM_000501.4(ELN):c.2077C>T (p.Pro693Ser) rs369804770 0.00004
NM_000501.4(ELN):c.2132-5T>A rs539160518 0.00004
NM_000501.4(ELN):c.478T>C (p.Phe160Leu) rs781857513 0.00004
NM_000501.4(ELN):c.853G>A (p.Val285Met) rs199709542 0.00004
NM_000501.4(ELN):c.92G>A (p.Gly31Glu) rs782625771 0.00004
NM_001042545.2(LTBP4):c.1041C>G (p.Arg347=) rs1213927843 0.00004
NM_001042545.2(LTBP4):c.1161T>C (p.Gly387=) rs554968375 0.00004
NM_001042545.2(LTBP4):c.2934C>T (p.Gly978=) rs768587659 0.00004
NM_001042545.2(LTBP4):c.3368C>T (p.Pro1123Leu) rs369221693 0.00004
NM_001042545.2(LTBP4):c.4024G>A (p.Ala1342Thr) rs370362292 0.00004
NM_002860.4(ALDH18A1):c.1014C>T (p.His338=) rs150056435 0.00004
NM_002860.4(ALDH18A1):c.1078+17A>G rs745857450 0.00004
NM_002860.4(ALDH18A1):c.1112G>A (p.Arg371Gln) rs745614904 0.00004
NM_002860.4(ALDH18A1):c.1351G>A (p.Val451Met) rs111344269 0.00004
NM_002860.4(ALDH18A1):c.1368C>T (p.Arg456=) rs369979669 0.00004
NM_002860.4(ALDH18A1):c.1393G>A (p.Glu465Lys) rs757876226 0.00004
NM_002860.4(ALDH18A1):c.1485C>T (p.Ile495=) rs777125038 0.00004
NM_002860.4(ALDH18A1):c.169C>A (p.His57Asn) rs200858692 0.00004
NM_002860.4(ALDH18A1):c.1800A>G (p.Leu600=) rs141192935 0.00004
NM_002860.4(ALDH18A1):c.1865G>A (p.Arg622Gln) rs774274057 0.00004
NM_002860.4(ALDH18A1):c.2177G>A (p.Arg726His) rs773714478 0.00004
NM_002860.4(ALDH18A1):c.2206+17T>C rs200513474 0.00004
NM_002860.4(ALDH18A1):c.2276C>T (p.Thr759Ile) rs781126562 0.00004
NM_002860.4(ALDH18A1):c.2345A>G (p.Tyr782Cys) rs774047299 0.00004
NM_002860.4(ALDH18A1):c.240C>T (p.Ala80=) rs1016828034 0.00004
NM_002860.4(ALDH18A1):c.27G>C (p.Gly9=) rs368431558 0.00004
NM_002860.4(ALDH18A1):c.304-3C>T rs188362786 0.00004
NM_002860.4(ALDH18A1):c.357C>T (p.Ala119=) rs767594147 0.00004
NM_002860.4(ALDH18A1):c.429G>A (p.Ser143=) rs745705105 0.00004
NM_002860.4(ALDH18A1):c.847C>T (p.Leu283Phe) rs747291828 0.00004
NM_002860.4(ALDH18A1):c.88C>T (p.His30Tyr) rs113678237 0.00004
NM_003573.2(LTBP4):c.172C>T (p.Pro58Ser) rs373445028 0.00004
NM_003573.2(LTBP4):c.194G>A (p.Arg65Lys) rs200951126 0.00004
NM_006329.4(FBLN5):c.-57G>A rs546827390 0.00004
NM_006329.4(FBLN5):c.273G>A (p.Pro91=) rs368771780 0.00004
NM_006907.4(PYCR1):c.*195_*196del rs886053570 0.00004
NM_006907.4(PYCR1):c.535G>A (p.Ala179Thr) rs139751598 0.00004
NM_006907.4(PYCR1):c.598C>T (p.Arg200Cys) rs778823558 0.00004
NM_006907.4(PYCR1):c.717C>T (p.Ile239=) rs745549446 0.00004
NM_006907.4(PYCR1):c.751C>T (p.Arg251Cys) rs756363870 0.00004
NM_012463.4(ATP6V0A2):c.*1828C>G rs886049068 0.00004
NM_012463.4(ATP6V0A2):c.*709C>T rs547048918 0.00004
NM_012463.4(ATP6V0A2):c.-148C>T rs886049059 0.00004
NM_012463.4(ATP6V0A2):c.1565C>T (p.Pro522Leu) rs371908109 0.00004
NM_012463.4(ATP6V0A2):c.2439G>A (p.Ala813=) rs200933894 0.00004
NM_012463.4(ATP6V0A2):c.26C>T (p.Thr9Ile) rs752689489 0.00004
NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=) rs563333869 0.00004
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs) rs745590426 0.00004
NM_012463.4(ATP6V0A2):c.791A>G (p.Glu264Gly) rs201247720 0.00004
NM_016938.5(EFEMP2):c.1110C>T (p.Pro370=) rs146180527 0.00004
NM_016938.5(EFEMP2):c.1182C>T (p.Asn394=) rs1466076983 0.00004
NM_016938.5(EFEMP2):c.1212G>A (p.Pro404=) rs148302546 0.00004
NM_016938.5(EFEMP2):c.1279C>T (p.Arg427Trp) rs1056545955 0.00004
NM_016938.5(EFEMP2):c.12C>T (p.Cys4=) rs1196692310 0.00004
NM_016938.5(EFEMP2):c.209A>G (p.Lys70Arg) rs373922246 0.00004
NM_016938.5(EFEMP2):c.267C>T (p.Asn89=) rs572217864 0.00004
NM_016938.5(EFEMP2):c.273A>G (p.Leu91=) rs770791862 0.00004
NM_016938.5(EFEMP2):c.280G>A (p.Glu94Lys) rs370848091 0.00004
NM_016938.5(EFEMP2):c.346G>A (p.Asp116Asn) rs370759216 0.00004
NM_016938.5(EFEMP2):c.34C>T (p.Leu12=) rs990066080 0.00004
NM_016938.5(EFEMP2):c.396C>T (p.His132=) rs545330660 0.00004
NM_016938.5(EFEMP2):c.783G>A (p.Glu261=) rs779131358 0.00004
NM_016938.5(EFEMP2):c.922C>T (p.Arg308Cys) rs781700061 0.00004
NM_016938.5(EFEMP2):c.974+12C>T rs772378278 0.00004
NM_018993.4(RIN2):c.159-17G>A rs372254069 0.00004
NM_018993.4(RIN2):c.922C>G (p.Pro308Ala) rs61743185 0.00004
NM_030777.4(SLC2A10):c.*2409A>G rs986161128 0.00004
NM_030777.4(SLC2A10):c.115G>A (p.Asp39Asn) rs367623970 0.00004
NM_030777.4(SLC2A10):c.1203C>T (p.Pro401=) rs368021257 0.00004
NM_030777.4(SLC2A10):c.1234G>A (p.Ala412Thr) rs746203433 0.00004
NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp) rs121908172 0.00004
NM_030777.4(SLC2A10):c.314G>A (p.Arg105His) rs753280877 0.00004
NM_030777.4(SLC2A10):c.443T>C (p.Leu148Pro) rs863223732 0.00004
NM_030777.4(SLC2A10):c.644G>A (p.Arg215Gln) rs774497964 0.00004
NM_030777.4(SLC2A10):c.671C>G (p.Ala224Gly) rs371261694 0.00004
NM_030777.4(SLC2A10):c.680A>G (p.Asn227Ser) rs959288629 0.00004
NM_030777.4(SLC2A10):c.807C>T (p.Ala269=) rs144705080 0.00004
NM_030777.4(SLC2A10):c.848C>A (p.Ala283Asp) rs145994112 0.00004
NM_030777.4(SLC2A10):c.924C>T (p.Ala308=) rs377173165 0.00004
NM_152281.3(GORAB):c.223G>A (p.Val75Ile) rs751708902 0.00004
NM_152281.3(GORAB):c.559C>T (p.Arg187Trp) rs763362522 0.00004
NM_152281.3(GORAB):c.868G>A (p.Glu290Lys) rs541180988 0.00004
NM_000052.7(ATP7A):c.1103T>C (p.Leu368Ser) rs372780635 0.00003
NM_000052.7(ATP7A):c.1226G>A (p.Arg409Gln) rs201763950 0.00003
NM_000052.7(ATP7A):c.1379A>G (p.Glu460Gly) rs1557232788 0.00003
NM_000052.7(ATP7A):c.1386G>A (p.Pro462=) rs1297787618 0.00003
NM_000052.7(ATP7A):c.1427C>T (p.Thr476Ile) rs782702847 0.00003
NM_000052.7(ATP7A):c.1522C>T (p.Arg508Trp) rs782603364 0.00003
NM_000052.7(ATP7A):c.1561G>A (p.Val521Met) rs139902461 0.00003
NM_000052.7(ATP7A):c.1734C>T (p.Cys578=) rs72554638 0.00003
NM_000052.7(ATP7A):c.1870-12G>T rs1203434891 0.00003
NM_000052.7(ATP7A):c.2052T>G (p.Asn684Lys) rs781837620 0.00003
NM_000052.7(ATP7A):c.2111A>G (p.Gln704Arg) rs782577253 0.00003
NM_000052.7(ATP7A):c.2406+15G>C rs782547388 0.00003
NM_000052.7(ATP7A):c.2406+18G>A rs1243579823 0.00003
NM_000052.7(ATP7A):c.2582G>A (p.Arg861His) rs782174967 0.00003
NM_000052.7(ATP7A):c.2680A>G (p.Ile894Val) rs782430502 0.00003
NM_000052.7(ATP7A):c.3274A>G (p.Ile1092Val) rs782513950 0.00003
NM_000052.7(ATP7A):c.3374A>G (p.Asn1125Ser) rs782764064 0.00003
NM_000052.7(ATP7A):c.3500C>G (p.Ala1167Gly) rs782231801 0.00003
NM_000052.7(ATP7A):c.3515C>T (p.Ala1172Val) rs781866452 0.00003
NM_000052.7(ATP7A):c.4073A>G (p.Asn1358Ser) rs1423719687 0.00003
NM_000052.7(ATP7A):c.4223A>C (p.Lys1408Thr) rs936157944 0.00003
NM_000052.7(ATP7A):c.4244A>G (p.Tyr1415Cys) rs1280037924 0.00003
NM_000052.7(ATP7A):c.4369G>T (p.Val1457Phe) rs1189381967 0.00003
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser) rs782774219 0.00003
NM_000052.7(ATP7A):c.844A>G (p.Ile282Val) rs782237314 0.00003
NM_000052.7(ATP7A):c.849T>C (p.Ile283=) rs782773745 0.00003
NM_000052.7(ATP7A):c.984A>G (p.Pro328=) rs2077657952 0.00003
NM_000501.4(ELN):c.*663C>T rs886062433 0.00003
NM_000501.4(ELN):c.*794C>T rs185988110 0.00003
NM_000501.4(ELN):c.1943G>A (p.Gly648Glu) rs140085632 0.00003
NM_000501.4(ELN):c.470-5G>A rs368292481 0.00003
NM_001042545.2(LTBP4):c.2098C>T (p.Arg700Trp) rs758290097 0.00003
NM_001042545.2(LTBP4):c.2557+10C>T rs547405457 0.00003
NM_001042545.2(LTBP4):c.639C>T (p.Tyr213=) rs746458434 0.00003
NM_002860.4(ALDH18A1):c.1027A>G (p.Ile343Val) rs371294018 0.00003
NM_002860.4(ALDH18A1):c.1110G>A (p.Ala370=) rs558532112 0.00003
NM_002860.4(ALDH18A1):c.1172A>G (p.His391Arg) rs774081826 0.00003
NM_002860.4(ALDH18A1):c.1190C>T (p.Thr397Met) rs769823561 0.00003
NM_002860.4(ALDH18A1):c.122G>A (p.Arg41His) rs192921117 0.00003
NM_002860.4(ALDH18A1):c.1237G>A (p.Glu413Lys) rs147348068 0.00003
NM_002860.4(ALDH18A1):c.1380C>T (p.Ile460=) rs770247123 0.00003
NM_002860.4(ALDH18A1):c.1417A>G (p.Ile473Val) rs373239891 0.00003
NM_002860.4(ALDH18A1):c.1467+15C>T rs374652686 0.00003
NM_002860.4(ALDH18A1):c.1540C>T (p.Arg514Trp) rs770442555 0.00003
NM_002860.4(ALDH18A1):c.2040C>T (p.Asn680=) rs145806693 0.00003
NM_002860.4(ALDH18A1):c.2121G>A (p.Ala707=) rs753837028 0.00003
NM_002860.4(ALDH18A1):c.2176C>T (p.Arg726Cys) rs202169492 0.00003
NM_002860.4(ALDH18A1):c.2383A>G (p.Asn795Asp) rs747918055 0.00003
NM_002860.4(ALDH18A1):c.709G>C (p.Gly237Arg) rs201841420 0.00003
NM_002860.4(ALDH18A1):c.933+14G>A rs546156675 0.00003
NM_002860.4(ALDH18A1):c.948C>T (p.Leu316=) rs769800738 0.00003
NM_006329.4(FBLN5):c.*458T>C rs886050887 0.00003
NM_006907.4(PYCR1):c.*104G>A rs553890358 0.00003
NM_012463.4(ATP6V0A2):c.*2090C>T rs772018611 0.00003
NM_012463.4(ATP6V0A2):c.*3269A>G rs567165258 0.00003
NM_012463.4(ATP6V0A2):c.*575G>A rs996318859 0.00003
NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp) rs781305219 0.00003
NM_012463.4(ATP6V0A2):c.1038G>A (p.Ser346=) rs147411055 0.00003
NM_012463.4(ATP6V0A2):c.1515-12T>G rs201512900 0.00003
NM_012463.4(ATP6V0A2):c.440C>T (p.Pro147Leu) rs747354658 0.00003
NM_012463.4(ATP6V0A2):c.793G>A (p.Gly265Arg) rs774118423 0.00003
NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=) rs367873118 0.00003
NM_016938.5(EFEMP2):c.1010G>A (p.Arg337Gln) rs755197148 0.00003
NM_016938.5(EFEMP2):c.1170+3A>G rs771815109 0.00003
NM_016938.5(EFEMP2):c.1306G>A (p.Val436Ile) rs774228818 0.00003
NM_016938.5(EFEMP2):c.433G>A (p.Gly145Ser) rs369601362 0.00003
NM_016938.5(EFEMP2):c.565G>A (p.Glu189Lys) rs148940436 0.00003
NM_016938.5(EFEMP2):c.873G>A (p.Ala291=) rs140784880 0.00003
NM_030777.4(SLC2A10):c.*1628T>A rs886056734 0.00003
NM_030777.4(SLC2A10):c.*2254del rs886056737 0.00003
NM_030777.4(SLC2A10):c.-60G>T rs886056722 0.00003
NM_030777.4(SLC2A10):c.119T>C (p.Phe40Ser) rs372166877 0.00003
NM_030777.4(SLC2A10):c.1351T>G (p.Cys451Gly) rs199599532 0.00003
NM_030777.4(SLC2A10):c.1377C>T (p.Asn459=) rs756207829 0.00003
NM_030777.4(SLC2A10):c.1402G>A (p.Asp468Asn) rs768345011 0.00003
NM_030777.4(SLC2A10):c.1446C>T (p.Tyr482=) rs150398871 0.00003
NM_030777.4(SLC2A10):c.1547G>A (p.Arg516Gln) rs760437795 0.00003
NM_030777.4(SLC2A10):c.1566C>T (p.Gly522=) rs1980421137 0.00003
NM_030777.4(SLC2A10):c.1596C>T (p.Tyr532=) rs886056727 0.00003
NM_030777.4(SLC2A10):c.189G>C (p.Leu63=) rs890578209 0.00003
NM_030777.4(SLC2A10):c.306C>T (p.Val102=) rs530216827 0.00003
NM_030777.4(SLC2A10):c.322G>A (p.Val108Ile) rs373375540 0.00003
NM_030777.4(SLC2A10):c.920T>A (p.Met307Lys) rs768142427 0.00003
NM_030777.4(SLC2A10):c.923C>T (p.Ala308Val) rs776373143 0.00003
NM_030777.4(SLC2A10):c.929C>T (p.Ser310Phe) rs763521707 0.00003
NM_030777.4(SLC2A10):c.948C>T (p.Leu316=) rs755109002 0.00003
NM_152281.3(GORAB):c.*944A>G rs371932538 0.00003
NM_152281.3(GORAB):c.-28C>G rs553663341 0.00003
NM_152281.3(GORAB):c.24C>G (p.Phe8Leu) rs151006839 0.00003
NM_152281.3(GORAB):c.782T>A (p.Leu261His) rs773952908 0.00003
NM_000052.7(ATP7A):c.1019C>T (p.Pro340Leu) rs1557231845 0.00002
NM_000052.7(ATP7A):c.1082C>T (p.Ser361Leu) rs782651571 0.00002
NM_000052.7(ATP7A):c.1172G>C (p.Cys391Ser) rs1557231883 0.00002
NM_000052.7(ATP7A):c.119A>C (p.Lys40Thr) rs1557229686 0.00002
NM_000052.7(ATP7A):c.1375T>C (p.Ser459Pro) rs374530062 0.00002
NM_000052.7(ATP7A):c.1425G>A (p.Met475Ile) rs782058395 0.00002
NM_000052.7(ATP7A):c.1429C>T (p.Pro477Ser) rs879981699 0.00002
NM_000052.7(ATP7A):c.1455G>T (p.Lys485Asn) rs782083382 0.00002
NM_000052.7(ATP7A):c.1543+9C>G rs367977602 0.00002
NM_000052.7(ATP7A):c.15G>A (p.Met5Ile) rs781952393 0.00002
NM_000052.7(ATP7A):c.1749G>A (p.Glu583=) rs375479026 0.00002
NM_000052.7(ATP7A):c.1756C>G (p.Leu586Val) rs782444523 0.00002
NM_000052.7(ATP7A):c.1789G>A (p.Val597Met) rs781959472 0.00002
NM_000052.7(ATP7A):c.1816A>G (p.Ile606Val) rs781961626 0.00002
NM_000052.7(ATP7A):c.1909T>G (p.Ser637Ala) rs1308442670 0.00002
NM_000052.7(ATP7A):c.1974G>C (p.Leu658=) rs781957241 0.00002
NM_000052.7(ATP7A):c.2029C>G (p.His677Asp) rs782761381 0.00002
NM_000052.7(ATP7A):c.2079C>G (p.Ile693Met) rs782269377 0.00002
NM_000052.7(ATP7A):c.2107C>T (p.Arg703Cys) rs782555092 0.00002
NM_000052.7(ATP7A):c.2173-7A>T rs376179410 0.00002
NM_000052.7(ATP7A):c.2178C>T (p.Phe726=) rs572956005 0.00002
NM_000052.7(ATP7A):c.2225A>G (p.Lys742Arg) rs782664014 0.00002
NM_000052.7(ATP7A):c.2277C>G (p.Ala759=) rs1473914623 0.00002
NM_000052.7(ATP7A):c.2385A>G (p.Arg795=) rs1445955792 0.00002
NM_000052.7(ATP7A):c.239C>T (p.Pro80Leu) rs782602356 0.00002
NM_000052.7(ATP7A):c.2532T>G (p.Arg844=) rs782315761 0.00002
NM_000052.7(ATP7A):c.2597A>G (p.His866Arg) rs1264242478 0.00002
NM_000052.7(ATP7A):c.2710G>A (p.Ala904Thr) rs1427317043 0.00002
NM_000052.7(ATP7A):c.2725G>A (p.Ala909Thr) rs146119866 0.00002
NM_000052.7(ATP7A):c.2907C>G (p.Thr969=) rs781835541 0.00002
NM_000052.7(ATP7A):c.2916+10T>G rs2077902893 0.00002
NM_000052.7(ATP7A):c.2917-9C>T rs188421674 0.00002
NM_000052.7(ATP7A):c.2948C>T (p.Thr983Met) rs782094358 0.00002
NM_000052.7(ATP7A):c.317C>T (p.Thr106Ile) rs782647620 0.00002
NM_000052.7(ATP7A):c.3262C>G (p.Leu1088Val) rs782463394 0.00002
NM_000052.7(ATP7A):c.3294+5A>C rs370596012 0.00002
NM_000052.7(ATP7A):c.3358A>G (p.Ser1120Gly) rs781914030 0.00002
NM_000052.7(ATP7A):c.3434C>T (p.Ala1145Val) rs374154862 0.00002
NM_000052.7(ATP7A):c.3522T>C (p.Asn1174=) rs1179465472 0.00002
NM_000052.7(ATP7A):c.3533A>G (p.Tyr1178Cys) rs1557238006 0.00002
NM_000052.7(ATP7A):c.3587A>G (p.Asn1196Ser) rs782250966 0.00002
NM_000052.7(ATP7A):c.3592G>A (p.Asp1198Asn) rs1374099672 0.00002
NM_000052.7(ATP7A):c.3736A>G (p.Met1246Val) rs1385333276 0.00002
NM_000052.7(ATP7A):c.3775A>G (p.Lys1259Glu) rs782428979 0.00002
NM_000052.7(ATP7A):c.4006-10C>T rs782741784 0.00002
NM_000052.7(ATP7A):c.4006-7T>C rs1406270253 0.00002
NM_000052.7(ATP7A):c.4058A>G (p.Lys1353Arg) rs781912153 0.00002
NM_000052.7(ATP7A):c.406G>A (p.Ala136Thr) rs781912401 0.00002
NM_000052.7(ATP7A):c.4124-17C>T rs371435031 0.00002
NM_000052.7(ATP7A):c.4227-1G>A rs782283173 0.00002
NM_000052.7(ATP7A):c.4245C>T (p.Tyr1415=) rs782346811 0.00002
NM_000052.7(ATP7A):c.4352G>A (p.Gly1451Asp) rs782232632 0.00002
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe) rs782364202 0.00002
NM_000052.7(ATP7A):c.4422A>G (p.Leu1474=) rs1557239138 0.00002
NM_000052.7(ATP7A):c.502G>A (p.Ala168Thr) rs781838499 0.00002
NM_000052.7(ATP7A):c.588G>A (p.Leu196=) rs782253237 0.00002
NM_000052.7(ATP7A):c.611-7T>C rs781898993 0.00002
NM_000052.7(ATP7A):c.6T>C (p.Asp2=) rs951178780 0.00002
NM_000052.7(ATP7A):c.705A>C (p.Pro235=) rs199608277 0.00002
NM_000052.7(ATP7A):c.817T>C (p.Tyr273His) rs1557231780 0.00002
NM_000052.7(ATP7A):c.840T>G (p.Thr280=) rs782713333 0.00002
NM_000052.7(ATP7A):c.909A>G (p.Gln303=) rs372389715 0.00002
NM_000501.4(ELN):c.*251C>T rs886062430 0.00002
NM_000501.4(ELN):c.*631C>T rs1168466814 0.00002
NM_000501.4(ELN):c.*997G>T rs886062434 0.00002
NM_000501.4(ELN):c.1097-8C>G rs781785100 0.00002
NM_000501.4(ELN):c.133+6G>A rs1216357938 0.00002
NM_000501.4(ELN):c.2131+14C>T rs782790041 0.00002
NM_001042545.2(LTBP4):c.1020G>A (p.Gly340=) rs543717406 0.00002
NM_002860.4(ALDH18A1):c.1198C>T (p.Arg400Cys) rs907590719 0.00002
NM_002860.4(ALDH18A1):c.1358G>A (p.Arg453His) rs765122458 0.00002
NM_002860.4(ALDH18A1):c.1366C>T (p.Arg456Cys) rs763868475 0.00002
NM_002860.4(ALDH18A1):c.1367G>A (p.Arg456His) rs760865106 0.00002
NM_002860.4(ALDH18A1):c.183C>T (p.Phe61=) rs375400820 0.00002
NM_002860.4(ALDH18A1):c.2098G>A (p.Val700Ile) rs375705932 0.00002
NM_002860.4(ALDH18A1):c.2109C>T (p.Asp703=) rs779516879 0.00002
NM_002860.4(ALDH18A1):c.2217G>A (p.Val739=) rs1002367939 0.00002
NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln) rs537043237 0.00002
NM_002860.4(ALDH18A1):c.2308G>A (p.Val770Met) rs369153920 0.00002
NM_002860.4(ALDH18A1):c.231C>T (p.Leu77=) rs1278292461 0.00002
NM_002860.4(ALDH18A1):c.2361C>T (p.Leu787=) rs377506019 0.00002
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln) rs121434582 0.00002
NM_002860.4(ALDH18A1):c.454-9A>G rs775098819 0.00002
NM_002860.4(ALDH18A1):c.465C>T (p.Val155=) rs545084277 0.00002
NM_002860.4(ALDH18A1):c.599G>A (p.Arg200His) rs746256246 0.00002
NM_002860.4(ALDH18A1):c.786G>C (p.Leu262Phe) rs1380580792 0.00002
NM_002860.4(ALDH18A1):c.966C>T (p.Gly322=) rs754882491 0.00002
NM_003573.2(LTBP4):c.310C>G (p.Pro104Ala) rs886054444 0.00002
NM_006329.4(FBLN5):c.-458G>A rs369441736 0.00002
NM_006329.4(FBLN5):c.739+14G>A rs1390709680 0.00002
NM_006907.4(PYCR1):c.138+1G>A rs755867227 0.00002
NM_006907.4(PYCR1):c.540+1G>A rs752297179 0.00002
NM_006907.4(PYCR1):c.616G>A (p.Gly206Arg) rs121918375 0.00002
NM_012463.4(ATP6V0A2):c.*1680C>T rs886049067 0.00002
NM_012463.4(ATP6V0A2):c.2072T>C (p.Ile691Thr) rs144946016 0.00002
NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His) rs774276857 0.00002
NM_016938.5(EFEMP2):c.1016A>T (p.Gln339Leu) rs754118526 0.00002
NM_016938.5(EFEMP2):c.1037G>A (p.Arg346His) rs760786490 0.00002
NM_016938.5(EFEMP2):c.1203C>T (p.Leu401=) rs374950957 0.00002
NM_016938.5(EFEMP2):c.151C>T (p.His51Tyr) rs1307880504 0.00002
NM_016938.5(EFEMP2):c.158G>A (p.Arg53Gln) rs372018326 0.00002
NM_016938.5(EFEMP2):c.160+8T>C rs1441745834 0.00002
NM_016938.5(EFEMP2):c.167A>G (p.Asn56Ser) rs768570882 0.00002
NM_016938.5(EFEMP2):c.279C>T (p.Gly93=) rs769750626 0.00002
NM_016938.5(EFEMP2):c.304C>T (p.Pro102Ser) rs756704201 0.00002
NM_016938.5(EFEMP2):c.338A>G (p.Tyr113Cys) rs1394549414 0.00002
NM_016938.5(EFEMP2):c.368-5C>T rs201248112 0.00002
NM_016938.5(EFEMP2):c.375C>T (p.Asp125=) rs758495680 0.00002
NM_016938.5(EFEMP2):c.54A>G (p.Leu18=) rs367928701 0.00002
NM_016938.5(EFEMP2):c.554G>A (p.Arg185His) rs143662598 0.00002
NM_016938.5(EFEMP2):c.626T>C (p.Met209Thr) rs778873365 0.00002
NM_016938.5(EFEMP2):c.724A>G (p.Ser242Gly) rs373202527 0.00002
NM_016938.5(EFEMP2):c.791G>A (p.Arg264His) rs749794461 0.00002
NM_016938.5(EFEMP2):c.872C>T (p.Ala291Val) rs753778921 0.00002
NM_016938.5(EFEMP2):c.941G>A (p.Arg314His) rs760501413 0.00002
NM_030777.4(SLC2A10):c.-55G>T rs933340480 0.00002
NM_030777.4(SLC2A10):c.1299T>C (p.Leu433=) rs879632885 0.00002
NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter) rs370547023 0.00002
NM_030777.4(SLC2A10):c.1412-13C>T rs371888996 0.00002
NM_030777.4(SLC2A10):c.1536C>T (p.Phe512=) rs745307904 0.00002
NM_030777.4(SLC2A10):c.1586G>A (p.Gly529Asp) rs750292263 0.00002
NM_030777.4(SLC2A10):c.1601G>A (p.Arg534His) rs746480018 0.00002
NM_030777.4(SLC2A10):c.1616C>T (p.Ala539Val) rs140312420 0.00002
NM_030777.4(SLC2A10):c.416A>G (p.Tyr139Cys) rs139858464 0.00002
NM_030777.4(SLC2A10):c.530T>C (p.Leu177Pro) rs777214287 0.00002
NM_030777.4(SLC2A10):c.562G>C (p.Gly188Arg) rs374246708 0.00002
NM_030777.4(SLC2A10):c.643C>T (p.Arg215Trp) rs200565780 0.00002
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln) rs771028960 0.00002
NM_030777.4(SLC2A10):c.859G>A (p.Ala287Thr) rs780058786 0.00002
NM_030777.4(SLC2A10):c.876C>A (p.Asp292Glu) rs777604168 0.00002
NM_030777.4(SLC2A10):c.877C>T (p.Arg293Cys) rs539783215 0.00002
NM_030777.4(SLC2A10):c.887G>A (p.Arg296His) rs558025597 0.00002
NM_030777.4(SLC2A10):c.915C>T (p.Ala305=) rs199975775 0.00002
NM_152281.3(GORAB):c.*1160G>A rs550890680 0.00002
NM_152281.3(GORAB):c.*598A>G rs886045555 0.00002
NM_152281.3(GORAB):c.*803T>C rs753455699 0.00002
NM_152281.3(GORAB):c.*818A>G rs886045558 0.00002
NM_152281.3(GORAB):c.276C>T (p.Thr92=) rs370271267 0.00002
NM_152281.3(GORAB):c.367G>T (p.Glu123Ter) rs119455951 0.00002
NM_152281.3(GORAB):c.388G>A (p.Asp130Asn) rs750567904 0.00002
NC_000001.11:g.170532153G>T rs148313748 0.00001
NM_000052.7(ATP7A):c.1023G>C (p.Gly341=) rs374656309 0.00001
NM_000052.7(ATP7A):c.1040T>C (p.Ile347Thr) rs368982547 0.00001
NM_000052.7(ATP7A):c.1106A>G (p.Asn369Ser) rs1557231866 0.00001
NM_000052.7(ATP7A):c.1141A>G (p.Ile381Val) rs1349223430 0.00001
NM_000052.7(ATP7A):c.1152T>C (p.Asp384=) rs147225045 0.00001
NM_000052.7(ATP7A):c.1209A>G (p.Pro403=) rs782744809 0.00001
NM_000052.7(ATP7A):c.121-12T>C rs1557231556 0.00001
NM_000052.7(ATP7A):c.1222A>G (p.Ile408Val) rs782815622 0.00001
NM_000052.7(ATP7A):c.1224A>G (p.Ile408Met) rs373634671 0.00001
NM_000052.7(ATP7A):c.1247A>C (p.Asn416Thr) rs1557231909 0.00001
NM_000052.7(ATP7A):c.1252A>T (p.Thr418Ser) rs782505393 0.00001
NM_000052.7(ATP7A):c.1255G>T (p.Val419Phe) rs782635238 0.00001
NM_000052.7(ATP7A):c.1259A>G (p.Glu420Gly) rs782530774 0.00001
NM_000052.7(ATP7A):c.1286A>G (p.Glu429Gly) rs2077660217 0.00001
NM_000052.7(ATP7A):c.1289C>T (p.Thr430Met) rs782018636 0.00001
NM_000052.7(ATP7A):c.1290G>A (p.Thr430=) rs143036870 0.00001
NM_000052.7(ATP7A):c.1302A>C (p.Ala434=) rs782148279 0.00001
NM_000052.7(ATP7A):c.1313T>C (p.Met438Thr) rs377651753 0.00001
NM_000052.7(ATP7A):c.1327A>G (p.Thr443Ala) rs1227094533 0.00001
NM_000052.7(ATP7A):c.1337-5A>G rs371146030 0.00001
NM_000052.7(ATP7A):c.1341G>A (p.Thr447=) rs782292643 0.00001
NM_000052.7(ATP7A):c.1376C>T (p.Ser459Leu) rs1557232786 0.00001
NM_000052.7(ATP7A):c.1384C>G (p.Pro462Ala) rs781964005 0.00001
NM_000052.7(ATP7A):c.1399A>G (p.Thr467Ala) rs782416233 0.00001
NM_000052.7(ATP7A):c.142G>A (p.Ala48Thr) rs1557231562 0.00001
NM_000052.7(ATP7A):c.1448A>G (p.Glu483Gly) rs781834607 0.00001
NM_000052.7(ATP7A):c.1474A>G (p.Ile492Val) rs781874593 0.00001
NM_000052.7(ATP7A):c.1487G>C (p.Gly496Ala) rs1193696385 0.00001
NM_000052.7(ATP7A):c.1497C>T (p.Cys499=) rs782495317 0.00001
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe) rs1331470313 0.00001
NM_000052.7(ATP7A):c.1574C>G (p.Ala525Gly) rs368355216 0.00001
NM_000052.7(ATP7A):c.1583C>G (p.Ala528Gly) rs1557233359 0.00001
NM_000052.7(ATP7A):c.1590A>G (p.Val530=) rs1557233367 0.00001
NM_000052.7(ATP7A):c.1602T>C (p.Pro534=) rs1056057247 0.00001
NM_000052.7(ATP7A):c.1630G>C (p.Glu544Gln) rs782491733 0.00001
NM_000052.7(ATP7A):c.168A>G (p.Leu56=) rs782612734 0.00001
NM_000052.7(ATP7A):c.1707+16T>C rs1557233398 0.00001
NM_000052.7(ATP7A):c.1708-9C>G rs1557234077 0.00001
NM_000052.7(ATP7A):c.1714G>A (p.Gly572Arg) rs1569549834 0.00001
NM_000052.7(ATP7A):c.1802C>A (p.Thr601Asn) rs371777895 0.00001
NM_000052.7(ATP7A):c.1811C>T (p.Ala604Val) rs375103934 0.00001
NM_000052.7(ATP7A):c.1825G>C (p.Asp609His) rs782764596 0.00001
NM_000052.7(ATP7A):c.1829C>T (p.Pro610Leu) rs781872960 0.00001
NM_000052.7(ATP7A):c.1834A>G (p.Ile612Val) rs1318638094 0.00001
NM_000052.7(ATP7A):c.1850A>G (p.Asp617Gly) rs782528311 0.00001
NM_000052.7(ATP7A):c.1876G>C (p.Gly626Arg) rs782396059 0.00001
NM_000052.7(ATP7A):c.1878T>C (p.Gly626=) rs782299586 0.00001
NM_000052.7(ATP7A):c.1902G>A (p.Lys634=) rs782315947 0.00001
NM_000052.7(ATP7A):c.1907G>A (p.Arg636Gln) rs1557234412 0.00001
NM_000052.7(ATP7A):c.1946+11T>C rs1557234428 0.00001
NM_000052.7(ATP7A):c.1947-5A>G rs1557234466 0.00001
NM_000052.7(ATP7A):c.1947-7A>G rs2077824853 0.00001
NM_000052.7(ATP7A):c.1993A>C (p.Met665Leu) rs879254156 0.00001
NM_000052.7(ATP7A):c.202G>A (p.Asp68Asn) rs782629836 0.00001
NM_000052.7(ATP7A):c.2032T>C (p.Phe678Leu) rs781792854 0.00001
NM_000052.7(ATP7A):c.2039C>T (p.Thr680Ile) rs782455461 0.00001
NM_000052.7(ATP7A):c.204C>T (p.Asp68=) rs1557231573 0.00001
NM_000052.7(ATP7A):c.2053C>G (p.Gln685Glu) rs1557234510 0.00001
NM_000052.7(ATP7A):c.2071G>A (p.Glu691Lys) rs944415019 0.00001
NM_000052.7(ATP7A):c.2103G>T (p.Leu701=) rs1318545869 0.00001
NM_000052.7(ATP7A):c.2108G>A (p.Arg703His) rs2234936 0.00001
NM_000052.7(ATP7A):c.2142G>A (p.Leu714=) rs782037158 0.00001
NM_000052.7(ATP7A):c.2149T>G (p.Phe717Val) rs1557234537 0.00001
NM_000052.7(ATP7A):c.2161G>T (p.Val721Leu) rs1557234543 0.00001
NM_000052.7(ATP7A):c.219T>C (p.Ala73=) rs1557231581 0.00001
NM_000052.7(ATP7A):c.2209A>G (p.Lys737Glu) rs782240491 0.00001
NM_000052.7(ATP7A):c.2212G>A (p.Ala738Thr) rs782389012 0.00001
NM_000052.7(ATP7A):c.2226G>C (p.Lys742Asn) rs782293297 0.00001
NM_000052.7(ATP7A):c.2253G>A (p.Val751=) rs782375469 0.00001
NM_000052.7(ATP7A):c.2254C>G (p.Leu752Val) rs1157086859 0.00001
NM_000052.7(ATP7A):c.2276C>T (p.Ala759Val) rs1557234739 0.00001
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys) rs782006661 0.00001
NM_000052.7(ATP7A):c.2287A>G (p.Ile763Val) rs2077837721 0.00001
NM_000052.7(ATP7A):c.2313G>C (p.Glu771Asp) rs1443260520 0.00001
NM_000052.7(ATP7A):c.2340C>T (p.Phe780=) rs2077838145 0.00001
NM_000052.7(ATP7A):c.2364T>C (p.Phe788=) rs1557234754 0.00001
NM_000052.7(ATP7A):c.2375C>T (p.Ala792Val) rs782770209 0.00001
NM_000052.7(ATP7A):c.2437A>G (p.Ile813Val) rs1557234931 0.00001
NM_000052.7(ATP7A):c.2442A>G (p.Ser814=) rs781953495 0.00001
NM_000052.7(ATP7A):c.2490C>T (p.Ile830=) rs368261204 0.00001
NM_000052.7(ATP7A):c.2499-9T>C rs1557235070 0.00001
NM_000052.7(ATP7A):c.2505A>G (p.Glu835=) rs1420350554 0.00001
NM_000052.7(ATP7A):c.2556A>T (p.Pro852=) rs781950120 0.00001
NM_000052.7(ATP7A):c.255T>C (p.Thr85=) rs1557231589 0.00001
NM_000052.7(ATP7A):c.2565A>G (p.Lys855=) rs1557235088 0.00001
NM_000052.7(ATP7A):c.2573T>G (p.Val858Gly) rs782094714 0.00001
NM_000052.7(ATP7A):c.2581C>T (p.Arg861Cys) rs781892236 0.00001
NM_000052.7(ATP7A):c.2595A>G (p.Gly865=) rs1557235097 0.00001
NM_000052.7(ATP7A):c.2627-17C>T rs782200911 0.00001
NM_000052.7(ATP7A):c.2687A>G (p.Gln896Arg) rs1324162252 0.00001
NM_000052.7(ATP7A):c.2691C>T (p.Asn897=) rs781928048 0.00001
NM_000052.7(ATP7A):c.2697A>G (p.Ser899=) rs1557235606 0.00001
NM_000052.7(ATP7A):c.2712A>C (p.Ala904=) rs1396353749 0.00001
NM_000052.7(ATP7A):c.2774C>T (p.Thr925Ile) rs369335432 0.00001
NM_000052.7(ATP7A):c.2778A>G (p.Ser926=) rs1557235619 0.00001
NM_000052.7(ATP7A):c.2780A>G (p.Lys927Arg) rs1557235625 0.00001
NM_000052.7(ATP7A):c.2797T>C (p.Phe933Leu) rs782225818 0.00001
NM_000052.7(ATP7A):c.2846C>A (p.Ser949Tyr) rs782807828 0.00001
NM_000052.7(ATP7A):c.2865A>G (p.Val955=) rs1557235728 0.00001
NM_000052.7(ATP7A):c.2909A>G (p.Tyr970Cys) rs1557235740 0.00001
NM_000052.7(ATP7A):c.2917-7T>C rs376898023 0.00001
NM_000052.7(ATP7A):c.2923A>G (p.Asn975Asp) rs1557236695 0.00001
NM_000052.7(ATP7A):c.2924A>G (p.Asn975Ser) rs1557236698 0.00001
NM_000052.7(ATP7A):c.2947A>G (p.Thr983Ala) rs1023683992 0.00001
NM_000052.7(ATP7A):c.2957G>A (p.Arg986Gln) rs781995242 0.00001
NM_000052.7(ATP7A):c.3028A>G (p.Thr1010Ala) rs782480109 0.00001
NM_000052.7(ATP7A):c.3070A>G (p.Ile1024Val) rs1341604631 0.00001
NM_000052.7(ATP7A):c.3112G>A (p.Val1038Ile) rs181435872 0.00001
NM_000052.7(ATP7A):c.3168G>T (p.Val1056=) rs371089220 0.00001
NM_000052.7(ATP7A):c.3174A>G (p.Gln1058=) rs1057518370 0.00001
NM_000052.7(ATP7A):c.318A>G (p.Thr106=) rs781851530 0.00001
NM_000052.7(ATP7A):c.3198C>T (p.Asn1066=) rs2077983590 0.00001
NM_000052.7(ATP7A):c.3240T>C (p.Ala1080=) rs1557237065 0.00001
NM_000052.7(ATP7A):c.3294+10T>A rs2077984363 0.00001
NM_000052.7(ATP7A):c.3304A>T (p.Thr1102Ser) rs782066060 0.00001
NM_000052.7(ATP7A):c.330C>A (p.Thr110=) rs1557231608 0.00001
NM_000052.7(ATP7A):c.3396G>T (p.Lys1132Asn) rs782548907 0.00001
NM_000052.7(ATP7A):c.3416A>G (p.Asp1139Gly) rs782154314 0.00001
NM_000052.7(ATP7A):c.3428A>G (p.Lys1143Arg) rs782486797 0.00001
NM_000052.7(ATP7A):c.3455C>T (p.Ala1152Val) rs371409820 0.00001
NM_000052.7(ATP7A):c.3457A>G (p.Ser1153Gly) rs1363235909 0.00001
NM_000052.7(ATP7A):c.3463G>C (p.Glu1155Gln) rs2077996609 0.00001
NM_000052.7(ATP7A):c.3553C>T (p.Arg1185Trp) rs781907456 0.00001
NM_000052.7(ATP7A):c.3554G>A (p.Arg1185Gln) rs782435305 0.00001
NM_000052.7(ATP7A):c.3591C>T (p.Asn1197=) rs1391918882 0.00001
NM_000052.7(ATP7A):c.3595G>A (p.Val1199Ile) rs782026169 0.00001
NM_000052.7(ATP7A):c.3606C>T (p.Phe1202=) rs782173299 0.00001
NM_000052.7(ATP7A):c.3658+13A>G rs797045381 0.00001
NM_000052.7(ATP7A):c.3659-5A>G rs1557238245 0.00001
NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys) rs782664232 0.00001
NM_000052.7(ATP7A):c.3696G>A (p.Val1232=) rs1557238252 0.00001
NM_000052.7(ATP7A):c.3701C>G (p.Pro1234Arg) rs1557238254 0.00001
NM_000052.7(ATP7A):c.3776A>T (p.Lys1259Ile) rs962646396 0.00001
NM_000052.7(ATP7A):c.3802-9A>G rs1557238565 0.00001
NM_000052.7(ATP7A):c.3885G>A (p.Arg1295=) rs895520660 0.00001
NM_000052.7(ATP7A):c.3894G>C (p.Met1298Ile) rs782499160 0.00001
NM_000052.7(ATP7A):c.3895G>T (p.Val1299Leu) rs782628250 0.00001
NM_000052.7(ATP7A):c.3903T>C (p.Asp1301=) rs782582761 0.00001
NM_000052.7(ATP7A):c.3915C>T (p.Asp1305=) rs781872987 0.00001
NM_000052.7(ATP7A):c.3942G>A (p.Val1314=) rs1569550333 0.00001
NM_000052.7(ATP7A):c.3957C>T (p.Gly1319=) rs1271447006 0.00001
NM_000052.7(ATP7A):c.4005+10A>G rs782188201 0.00001
NM_000052.7(ATP7A):c.4006-11T>A rs1325784914 0.00001
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp) rs370736173 0.00001
NM_000052.7(ATP7A):c.4067G>A (p.Arg1356Gln) rs782260602 0.00001
NM_000052.7(ATP7A):c.4132A>G (p.Met1378Val) rs782161783 0.00001
NM_000052.7(ATP7A):c.4152G>A (p.Leu1384=) rs781939808 0.00001
NM_000052.7(ATP7A):c.415A>T (p.Ile139Leu) rs1557231629 0.00001
NM_000052.7(ATP7A):c.4180G>T (p.Ala1394Ser) rs189818149 0.00001
NM_000052.7(ATP7A):c.4206T>C (p.Leu1402=) rs782505602 0.00001
NM_000052.7(ATP7A):c.4212T>C (p.Ser1404=) rs2078077936 0.00001
NM_000052.7(ATP7A):c.4227-12del rs1557239080 0.00001
NM_000052.7(ATP7A):c.4254T>C (p.Tyr1418=) rs990337633 0.00001
NM_000052.7(ATP7A):c.4268G>A (p.Arg1423Gln) rs368091927 0.00001
NM_000052.7(ATP7A):c.4293T>C (p.Pro1431=) rs1569550372 0.00001
NM_000052.7(ATP7A):c.4310A>G (p.His1437Arg) rs1557239111 0.00001
NM_000052.7(ATP7A):c.4311T>C (p.His1437=) rs782541211 0.00001
NM_000052.7(ATP7A):c.4355T>G (p.Leu1452Trp) rs1557239117 0.00001
NM_000052.7(ATP7A):c.4363C>T (p.Arg1455Trp) rs1457236338 0.00001
NM_000052.7(ATP7A):c.4375T>C (p.Tyr1459His) rs782272603 0.00001
NM_000052.7(ATP7A):c.4414C>T (p.Arg1472Cys) rs782062633 0.00001
NM_000052.7(ATP7A):c.4415G>A (p.Arg1472His) rs1204475767 0.00001
NM_000052.7(ATP7A):c.4426A>T (p.Ser1476Cys) rs1557239144 0.00001
NM_000052.7(ATP7A):c.4448A>C (p.Asp1483Ala) rs782799150 0.00001
NM_000052.7(ATP7A):c.4449C>T (p.Asp1483=) rs1557239148 0.00001
NM_000052.7(ATP7A):c.4497A>C (p.Ala1499=) rs782053901 0.00001
NM_000052.7(ATP7A):c.470C>T (p.Ser157Leu) rs782716555 0.00001
NM_000052.7(ATP7A):c.488A>G (p.His163Arg) rs1164298315 0.00001
NM_000052.7(ATP7A):c.498T>C (p.Ala166=) rs782701351 0.00001
NM_000052.7(ATP7A):c.506G>A (p.Gly169Asp) rs782485590 0.00001
NM_000052.7(ATP7A):c.513C>T (p.Val171=) rs782643553 0.00001
NM_000052.7(ATP7A):c.514G>A (p.Val172Met) rs782248978 0.00001
NM_000052.7(ATP7A):c.531G>A (p.Val177=) rs1557231650 0.00001
NM_000052.7(ATP7A):c.532G>A (p.Glu178Lys) rs782675275 0.00001
NM_000052.7(ATP7A):c.548A>G (p.His183Arg) rs1186296000 0.00001
NM_000052.7(ATP7A):c.556A>C (p.Thr186Pro) rs1557231656 0.00001
NM_000052.7(ATP7A):c.579T>A (p.Ile193=) rs2077652795 0.00001
NM_000052.7(ATP7A):c.605T>G (p.Ile202Ser) rs1557231670 0.00001
NM_000052.7(ATP7A):c.611-4C>T rs1287080060 0.00001
NM_000052.7(ATP7A):c.635C>T (p.Thr212Ile) rs1557231734 0.00001
NM_000052.7(ATP7A):c.760C>T (p.Arg254Cys) rs374855698 0.00001
NM_000052.7(ATP7A):c.807G>A (p.Arg269=) rs868946047 0.00001
NM_000052.7(ATP7A):c.83A>T (p.Gln28Leu) rs782146244 0.00001
NM_000052.7(ATP7A):c.843C>A (p.Phe281Leu) rs1039952708 0.00001
NM_000052.7(ATP7A):c.891T>A (p.Ser297Arg) rs782449900 0.00001
NM_000052.7(ATP7A):c.933T>C (p.Ser311=) rs782638418 0.00001
NM_000052.7(ATP7A):c.963T>C (p.Tyr321=) rs1557231829 0.00001
NM_000501.4(ELN):c.1138G>A (p.Ala380Thr) rs973649598 0.00001
NM_000501.4(ELN):c.1150G>A (p.Gly384Arg) rs782359367 0.00001
NM_000501.4(ELN):c.1281C>T (p.Pro427=) rs376496267 0.00001
NM_000501.4(ELN):c.134-10C>G rs782069123 0.00001
NM_000501.4(ELN):c.1470T>C (p.Gly490=) rs576324025 0.00001
NM_000501.4(ELN):c.1606G>T (p.Ala536Ser) rs374253638 0.00001
NM_000501.4(ELN):c.163+13A>G rs782388951 0.00001
NM_000501.4(ELN):c.1640G>A (p.Gly547Asp) rs150248865 0.00001
NM_000501.4(ELN):c.767C>T (p.Ala256Val) rs782285456 0.00001
NM_001042545.2(LTBP4):c.*25C>T rs1284761820 0.00001
NM_001042545.2(LTBP4):c.1252C>T (p.Arg418Ter) rs397515430 0.00001
NM_001042545.2(LTBP4):c.1452C>G (p.Arg484=) rs745624027 0.00001
NM_001042545.2(LTBP4):c.1835C>T (p.Pro612Leu) rs886054447 0.00001
NM_001042545.2(LTBP4):c.2739C>T (p.Asn913=) rs2303726 0.00001
NM_001042545.2(LTBP4):c.302G>A (p.Arg101His) rs762286016 0.00001
NM_001042545.2(LTBP4):c.371C>G (p.Ala124Gly) rs562892147 0.00001
NM_001042545.2(LTBP4):c.4019C>T (p.Pro1340Leu) rs531174154 0.00001
NM_001042545.2(LTBP4):c.4184G>A (p.Arg1395Gln) rs1032506558 0.00001
NM_001042545.2(LTBP4):c.517G>T (p.Val173Leu) rs755035387 0.00001
NM_001042545.2(LTBP4):c.634G>A (p.Gly212Ser) rs771378692 0.00001
NM_001042545.2(LTBP4):c.827C>T (p.Pro276Leu) rs760578075 0.00001
NM_001042545.2(LTBP4):c.864C>T (p.Cys288=) rs758784148 0.00001
NM_002860.3(ALDH18A1):c.-162A>G rs886047515 0.00001
NM_002860.4(ALDH18A1):c.-44G>A rs1443127759 0.00001
NM_002860.4(ALDH18A1):c.1041G>A (p.Lys347=) rs2097862079 0.00001
NM_002860.4(ALDH18A1):c.1083T>C (p.Pro361=) rs886047512 0.00001
NM_002860.4(ALDH18A1):c.1233G>T (p.Leu411Phe) rs758828421 0.00001
NM_002860.4(ALDH18A1):c.1247-19C>G rs772575442 0.00001
NM_002860.4(ALDH18A1):c.1274G>C (p.Arg425Pro) rs1413173287 0.00001
NM_002860.4(ALDH18A1):c.1315G>A (p.Gly439Ser) rs141292408 0.00001
NM_002860.4(ALDH18A1):c.1320G>A (p.Leu440=) rs537092003 0.00001
NM_002860.4(ALDH18A1):c.1335C>T (p.Ala445=) rs771965130 0.00001
NM_002860.4(ALDH18A1):c.1363T>C (p.Leu455=) rs753823851 0.00001
NM_002860.4(ALDH18A1):c.1448G>A (p.Arg483His) rs756168752 0.00001
NM_002860.4(ALDH18A1):c.1582G>A (p.Gly528Arg) rs914403045 0.00001
NM_002860.4(ALDH18A1):c.1589A>C (p.Lys530Thr) rs560598479 0.00001
NM_002860.4(ALDH18A1):c.1598T>G (p.Val533Gly) rs796197665 0.00001
NM_002860.4(ALDH18A1):c.1635T>C (p.Leu545=) rs368774840 0.00001
NM_002860.4(ALDH18A1):c.1636T>C (p.Cys546Arg) rs753157831 0.00001
NM_002860.4(ALDH18A1):c.164G>A (p.Arg55His) rs754880517 0.00001
NM_002860.4(ALDH18A1):c.1732G>C (p.Gly578Arg) rs1085307606 0.00001
NM_002860.4(ALDH18A1):c.1741G>A (p.Glu581Lys) rs777991529 0.00001
NM_002860.4(ALDH18A1):c.1797G>C (p.Arg599Ser) rs752764884 0.00001
NM_002860.4(ALDH18A1):c.1923+1G>A rs863223315 0.00001
NM_002860.4(ALDH18A1):c.1942C>T (p.Pro648Ser) rs768964431 0.00001
NM_002860.4(ALDH18A1):c.2034G>A (p.Val678=) rs1328125928 0.00001
NM_002860.4(ALDH18A1):c.2077A>G (p.Ser693Gly) rs1363547996 0.00001
NM_002860.4(ALDH18A1):c.2110G>A (p.Glu704Lys) rs758219423 0.00001
NM_002860.4(ALDH18A1):c.2140G>A (p.Val714Ile) rs756291410 0.00001
NM_002860.4(ALDH18A1):c.2143G>C (p.Asp715His) rs752669339 0.00001
NM_002860.4(ALDH18A1):c.2194C>T (p.Arg732Cys) rs760203992 0.00001
NM_002860.4(ALDH18A1):c.2246G>A (p.Arg749Gln) rs748925635 0.00001
NM_002860.4(ALDH18A1):c.2293C>T (p.Arg765Ter) rs1462559161 0.00001
NM_002860.4(ALDH18A1):c.306A>G (p.Val102=) rs773545430 0.00001
NM_002860.4(ALDH18A1):c.378C>T (p.Arg126=) rs773835343 0.00001
NM_002860.4(ALDH18A1):c.383G>A (p.Arg128His) rs768323248 0.00001
NM_002860.4(ALDH18A1):c.512C>T (p.Ala171Val) rs1268586078 0.00001
NM_002860.4(ALDH18A1):c.551C>T (p.Ala184Val) rs201428777 0.00001
NM_002860.4(ALDH18A1):c.558+6A>G rs751771445 0.00001
NM_002860.4(ALDH18A1):c.559-19A>G rs776600555 0.00001
NM_002860.4(ALDH18A1):c.598C>T (p.Arg200Cys) rs201801058 0.00001
NM_002860.4(ALDH18A1):c.602G>A (p.Arg201Gln) rs757660360 0.00001
NM_002860.4(ALDH18A1):c.754C>T (p.Arg252Ter) rs758543218 0.00001
NM_002860.4(ALDH18A1):c.75C>T (p.Thr25=) rs759465204 0.00001
NM_002860.4(ALDH18A1):c.781C>A (p.Leu261Ile) rs200172733 0.00001
NM_002860.4(ALDH18A1):c.809-12T>C rs777274822 0.00001
NM_002860.4(ALDH18A1):c.809-13G>A rs756690468 0.00001
NM_002860.4(ALDH18A1):c.809-3T>G rs755947818 0.00001
NM_002860.4(ALDH18A1):c.842C>T (p.Ala281Val) rs886047513 0.00001
NM_002860.4(ALDH18A1):c.88+1G>A rs556267618 0.00001
NM_002860.4(ALDH18A1):c.934-7T>A rs772389382 0.00001
NM_002860.4(ALDH18A1):c.969T>A (p.Thr323=) rs751578810 0.00001
NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro) rs765380273 0.00001
NM_003573.2(LTBP4):c.76-1G>A rs781735457 0.00001
NM_006329.4(FBLN5):c.*419G>C rs1451509746 0.00001
NM_006329.4(FBLN5):c.*653G>A rs886050886 0.00001
NM_006329.4(FBLN5):c.*775A>C rs886050885 0.00001
NM_006329.4(FBLN5):c.*77T>A rs1326922015 0.00001
NM_006329.4(FBLN5):c.-382C>G rs886050890 0.00001
NM_006329.4(FBLN5):c.1183C>T (p.Arg395Trp) rs372650987 0.00001
NM_006329.4(FBLN5):c.245A>C (p.Asn82Thr) rs759508064 0.00001
NM_006329.4(FBLN5):c.251A>G (p.Tyr84Cys) rs886050889 0.00001
NM_006329.4(FBLN5):c.336A>G (p.Ile112Met) rs1221579102 0.00001
NM_006329.4(FBLN5):c.573A>G (p.Thr191=) rs756288143 0.00001
NM_006329.4(FBLN5):c.676G>A (p.Gly226Ser) rs747288805 0.00001
NM_006329.4(FBLN5):c.834C>G (p.Ile278Met) rs1889546743 0.00001
NM_006907.4(PYCR1):c.*229C>T rs759568144 0.00001
NM_006907.4(PYCR1):c.*769C>T rs545491725 0.00001
NM_006907.4(PYCR1):c.-62G>A rs573221309 0.00001
NM_006907.4(PYCR1):c.356G>A (p.Arg119His) rs121918377 0.00001
NM_006907.4(PYCR1):c.557A>G (p.Asp186Gly) rs1180294322 0.00001
NM_006907.4(PYCR1):c.59dup (p.Ala21fs) rs762218403 0.00001
NM_006907.4(PYCR1):c.722C>T (p.Ala241Val) rs770505872 0.00001
NM_006907.4(PYCR1):c.728A>G (p.His243Arg) rs2041098364 0.00001
NM_006907.4(PYCR1):c.743G>A (p.Gly248Glu) rs281875319 0.00001
NM_006907.4(PYCR1):c.755C>T (p.Ser252Phe) rs767581950 0.00001
NM_006907.4(PYCR1):c.790C>T (p.Arg264Cys) rs770539885 0.00001
NM_012463.4(ATP6V0A2):c.*2039C>G rs886049069 0.00001
NM_012463.4(ATP6V0A2):c.*2085C>G rs185883563 0.00001
NM_012463.4(ATP6V0A2):c.*3262G>A rs1593929112 0.00001
NM_012463.4(ATP6V0A2):c.*3684C>T rs1051636200 0.00001
NM_012463.4(ATP6V0A2):c.*3707A>G rs1203316393 0.00001
NM_012463.4(ATP6V0A2):c.*434T>A rs886049065 0.00001
NM_012463.4(ATP6V0A2):c.*706T>G rs1288578795 0.00001
NM_012463.4(ATP6V0A2):c.-114G>A rs1264181324 0.00001
NM_012463.4(ATP6V0A2):c.1214C>T (p.Pro405Leu) rs750788949 0.00001
NM_012463.4(ATP6V0A2):c.1323A>G (p.Gln441=) rs985944979 0.00001
NM_012463.4(ATP6V0A2):c.1514+1G>A rs374480381 0.00001
NM_012463.4(ATP6V0A2):c.1789A>G (p.Ile597Val) rs757775762 0.00001
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter) rs80356750 0.00001
NM_012463.4(ATP6V0A2):c.2032C>T (p.Arg678Cys) rs148307049 0.00001
NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn) rs777130500 0.00001
NM_012463.4(ATP6V0A2):c.2176-5C>G rs201910056 0.00001
NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter) rs80356758 0.00001
NM_012463.4(ATP6V0A2):c.2294-4G>A rs551697992 0.00001
NM_012463.4(ATP6V0A2):c.2338C>T (p.Arg780Cys) rs768609186 0.00001
NM_012463.4(ATP6V0A2):c.2542A>G (p.Lys848Glu) rs769901746 0.00001
NM_012463.4(ATP6V0A2):c.2547C>A (p.Phe849Leu) rs775425809 0.00001
NM_012463.4(ATP6V0A2):c.794G>A (p.Gly265Glu) rs571403150 0.00001
NM_016938.5(EFEMP2):c.*174G>A rs762945459 0.00001
NM_016938.5(EFEMP2):c.*182A>G rs1565271753 0.00001
NM_016938.5(EFEMP2):c.*247A>C rs1486449571 0.00001
NM_016938.5(EFEMP2):c.-10C>T rs1859987394 0.00001
NM_016938.5(EFEMP2):c.1003C>T (p.Leu335=) rs765442560 0.00001
NM_016938.5(EFEMP2):c.1061G>A (p.Arg354Gln) rs138210467 0.00001
NM_016938.5(EFEMP2):c.1094C>T (p.Ala365Val) rs768004972 0.00001
NM_016938.5(EFEMP2):c.1105T>C (p.Tyr369His) rs373485109 0.00001
NM_016938.5(EFEMP2):c.110C>T (p.Thr37Met) rs921412303 0.00001
NM_016938.5(EFEMP2):c.1111G>A (p.Gly371Ser) rs1294797610 0.00001
NM_016938.5(EFEMP2):c.112-4C>A rs900644594 0.00001
NM_016938.5(EFEMP2):c.1183G>A (p.Val395Ile) rs543567156 0.00001
NM_016938.5(EFEMP2):c.1207C>A (p.Arg403=) rs765684268 0.00001
NM_016938.5(EFEMP2):c.1217C>T (p.Thr406Met) rs372299119 0.00001
NM_016938.5(EFEMP2):c.1221C>A (p.Gly407=) rs767083801 0.00001
NM_016938.5(EFEMP2):c.1225C>T (p.Arg409Trp) rs774325189 0.00001
NM_016938.5(EFEMP2):c.1226G>A (p.Arg409Gln) rs61893867 0.00001
NM_016938.5(EFEMP2):c.1305C>T (p.Thr435=) rs1260193001 0.00001
NM_016938.5(EFEMP2):c.146G>C (p.Ser49Thr) rs1468378128 0.00001
NM_016938.5(EFEMP2):c.186T>C (p.Pro62=) rs745699648 0.00001
NM_016938.5(EFEMP2):c.19T>G (p.Cys7Gly) rs1344778966 0.00001
NM_016938.5(EFEMP2):c.231C>T (p.Gly77=) rs928050535 0.00001
NM_016938.5(EFEMP2):c.252C>T (p.Ser84=) rs767033176 0.00001
NM_016938.5(EFEMP2):c.253G>A (p.Ala85Thr) rs148604051 0.00001
NM_016938.5(EFEMP2):c.286C>T (p.Pro96Ser) rs141721562 0.00001
NM_016938.5(EFEMP2):c.307G>A (p.Ala103Thr) rs1008465800 0.00001
NM_016938.5(EFEMP2):c.321C>A (p.Asn107Lys) rs762409753 0.00001
NM_016938.5(EFEMP2):c.349G>A (p.Asp117Asn) rs749326725 0.00001
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys) rs193302867 0.00001
NM_016938.5(EFEMP2):c.423T>C (p.His141=) rs1314192173 0.00001
NM_016938.5(EFEMP2):c.460G>A (p.Gly154Ser) rs377199919 0.00001
NM_016938.5(EFEMP2):c.475G>A (p.Gly159Arg) rs1248173748 0.00001
NM_016938.5(EFEMP2):c.496G>A (p.Asp166Asn) rs145037272 0.00001
NM_016938.5(EFEMP2):c.499G>T (p.Glu167Ter) rs763944898 0.00001
NM_016938.5(EFEMP2):c.505C>T (p.Arg169Cys) rs762712612 0.00001
NM_016938.5(EFEMP2):c.541C>T (p.Pro181Ser) rs1351534292 0.00001
NM_016938.5(EFEMP2):c.557G>C (p.Cys186Ser) rs1361657266 0.00001
NM_016938.5(EFEMP2):c.579G>C (p.Gln193His) rs1565273832 0.00001
NM_016938.5(EFEMP2):c.595C>T (p.Arg199Cys) rs766531680 0.00001
NM_016938.5(EFEMP2):c.600C>A (p.Ser200=) rs1032092509 0.00001
NM_016938.5(EFEMP2):c.607+18C>A rs571631117 0.00001
NM_016938.5(EFEMP2):c.608-2A>G rs1224841813 0.00001
NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala) rs193302864 0.00001
NM_016938.5(EFEMP2):c.615C>T (p.Asn205=) rs760174107 0.00001
NM_016938.5(EFEMP2):c.639C>T (p.Cys213=) rs199606204 0.00001
NM_016938.5(EFEMP2):c.651C>T (p.Cys217=) rs765884191 0.00001
NM_016938.5(EFEMP2):c.657C>T (p.Asn219=) rs1372273571 0.00001
NM_016938.5(EFEMP2):c.677G>A (p.Cys226Tyr) rs760244280 0.00001
NM_016938.5(EFEMP2):c.699G>A (p.Glu233=) rs1206569334 0.00001
NM_016938.5(EFEMP2):c.741T>C (p.Cys247=) rs1200560839 0.00001
NM_016938.5(EFEMP2):c.756C>T (p.Tyr252=) rs1391116927 0.00001
NM_016938.5(EFEMP2):c.768C>T (p.Tyr256=) rs1591066103 0.00001
NM_016938.5(EFEMP2):c.836G>A (p.Arg279His) rs756905509 0.00001
NM_016938.5(EFEMP2):c.847+20G>A rs759195625 0.00001
NM_016938.5(EFEMP2):c.848-11C>T rs776698728 0.00001
NM_016938.5(EFEMP2):c.927C>T (p.Cys309=) rs766494495 0.00001
NM_016938.5(EFEMP2):c.928G>A (p.Val310Met) rs544423133 0.00001
NM_016938.5(EFEMP2):c.96G>T (p.Glu32Asp) rs1011011078 0.00001
NM_016938.5(EFEMP2):c.97C>G (p.Pro33Ala) rs1161566620 0.00001
NM_016938.5(EFEMP2):c.989C>T (p.Pro330Leu) rs781029572 0.00001
NM_018993.4(RIN2):c.1019A>G (p.His340Arg) rs750158644 0.00001
NM_018993.4(RIN2):c.899G>A (p.Gly300Asp) rs751256990 0.00001
NM_030777.4(SLC2A10):c.*1064G>A rs917707348 0.00001
NM_030777.4(SLC2A10):c.*1394G>A rs775775371 0.00001
NM_030777.4(SLC2A10):c.*182T>G rs886056729 0.00001
NM_030777.4(SLC2A10):c.*1858T>G rs886056735 0.00001
NM_030777.4(SLC2A10):c.*214T>G rs764533992 0.00001
NM_030777.4(SLC2A10):c.*2482T>A rs1414419618 0.00001
NM_030777.4(SLC2A10):c.*414G>T rs1248315391 0.00001
NM_030777.4(SLC2A10):c.*608C>A rs1485666222 0.00001
NM_030777.4(SLC2A10):c.-22A>G rs886056723 0.00001
NM_030777.4(SLC2A10):c.1009G>A (p.Gly337Arg) rs369238826 0.00001
NM_030777.4(SLC2A10):c.1014G>C (p.Gln338His) rs35833600 0.00001
NM_030777.4(SLC2A10):c.1032C>T (p.Asp344=) rs1301992983 0.00001
NM_030777.4(SLC2A10):c.1087C>G (p.Gln363Glu) rs886038934 0.00001
NM_030777.4(SLC2A10):c.1096C>T (p.Pro366Ser) rs774664650 0.00001
NM_030777.4(SLC2A10):c.110_121del (p.Gln37_Gly41delinsArg) rs767211470 0.00001
NM_030777.4(SLC2A10):c.1110T>C (p.Thr370=) rs760859018 0.00001
NM_030777.4(SLC2A10):c.1187C>T (p.Pro396Leu) rs755654519 0.00001
NM_030777.4(SLC2A10):c.120T>C (p.Phe40=) rs202176956 0.00001
NM_030777.4(SLC2A10):c.1233C>T (p.Thr411=) rs778452693 0.00001
NM_030777.4(SLC2A10):c.1269C>T (p.Phe423=) rs1057524067 0.00001
NM_030777.4(SLC2A10):c.1274T>C (p.Phe425Ser) rs546176728 0.00001
NM_030777.4(SLC2A10):c.1288+2T>C rs768848335 0.00001
NM_030777.4(SLC2A10):c.1305C>T (p.Leu435=) rs201159437 0.00001
NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys) rs763220502 0.00001
NM_030777.4(SLC2A10):c.1334G>A (p.Gly445Glu) rs753723351 0.00001
NM_030777.4(SLC2A10):c.1371G>A (p.Ala457=) rs558894862 0.00001
NM_030777.4(SLC2A10):c.1411+12C>T rs762576278 0.00001
NM_030777.4(SLC2A10):c.1423T>G (p.Leu475Val) rs754355572 0.00001
NM_030777.4(SLC2A10):c.1426T>C (p.Ser476Pro) rs750625663 0.00001
NM_030777.4(SLC2A10):c.142G>C (p.Glu48Gln) rs1252274574 0.00001
NM_030777.4(SLC2A10):c.1437C>T (p.Phe479=) rs1457956300 0.00001
NM_030777.4(SLC2A10):c.1439T>A (p.Leu480Gln) rs1407824130 0.00001
NM_030777.4(SLC2A10):c.1455C>T (p.Thr485=) rs1285063741 0.00001
NM_030777.4(SLC2A10):c.1457C>A (p.Ala486Asp) rs775211875 0.00001
NM_030777.4(SLC2A10):c.1465G>C (p.Gly489Arg) rs201268555 0.00001
NM_030777.4(SLC2A10):c.1497A>G (p.Glu499=) rs780076629 0.00001
NM_030777.4(SLC2A10):c.1518A>G (p.Ala506=) rs548796220 0.00001
NM_030777.4(SLC2A10):c.1606G>A (p.Glu536Lys) rs1238866581 0.00001
NM_030777.4(SLC2A10):c.1611C>G (p.Ile537Met) rs1060502314 0.00001
NM_030777.4(SLC2A10):c.163C>T (p.Leu55Phe) rs745611450 0.00001
NM_030777.4(SLC2A10):c.170G>T (p.Gly57Val) rs369796310 0.00001
NM_030777.4(SLC2A10):c.173C>T (p.Ala58Val) rs141310869 0.00001
NM_030777.4(SLC2A10):c.180C>T (p.Leu60=) rs371988251 0.00001
NM_030777.4(SLC2A10):c.195T>A (p.Gly65=) rs1002286842 0.00001
NM_030777.4(SLC2A10):c.252G>A (p.Val84=) rs878855129 0.00001
NM_030777.4(SLC2A10):c.259G>A (p.Ala87Thr) rs1319096126 0.00001
NM_030777.4(SLC2A10):c.264C>G (p.Gly88=) rs768512276 0.00001
NM_030777.4(SLC2A10):c.297C>T (p.Ala99=) rs1390850910 0.00001
NM_030777.4(SLC2A10):c.311G>A (p.Gly104Asp) rs1060502311 0.00001
NM_030777.4(SLC2A10):c.367G>A (p.Val123Met) rs770619266 0.00001
NM_030777.4(SLC2A10):c.368T>C (p.Val123Ala) rs1309491576 0.00001
NM_030777.4(SLC2A10):c.389G>A (p.Arg130Gln) rs1438650724 0.00001
NM_030777.4(SLC2A10):c.432C>T (p.Thr144=) rs371344477 0.00001
NM_030777.4(SLC2A10):c.455C>T (p.Ala152Val) rs775987124 0.00001
NM_030777.4(SLC2A10):c.475G>T (p.Gly159Cys) rs761947206 0.00001
NM_030777.4(SLC2A10):c.484del (p.Trp162fs) rs1979855248 0.00001
NM_030777.4(SLC2A10):c.501G>A (p.Met167Ile) rs763979126 0.00001
NM_030777.4(SLC2A10):c.505G>A (p.Gly169Ser) rs35151194 0.00001
NM_030777.4(SLC2A10):c.517G>A (p.Ala173Thr) rs1060502312 0.00001
NM_030777.4(SLC2A10):c.577G>A (p.Ala193Thr) rs780965802 0.00001
NM_030777.4(SLC2A10):c.589G>T (p.Asp197Tyr) rs761874387 0.00001
NM_030777.4(SLC2A10):c.601C>T (p.Leu201Phe) rs199861432 0.00001
NM_030777.4(SLC2A10):c.613G>A (p.Glu205Lys) rs917083925 0.00001
NM_030777.4(SLC2A10):c.633G>A (p.Pro211=) rs770919957 0.00001
NM_030777.4(SLC2A10):c.646T>A (p.Tyr216Asn) rs1269438372 0.00001
NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter) rs1015798796 0.00001
NM_030777.4(SLC2A10):c.666C>T (p.Phe222=) rs776448517 0.00001
NM_030777.4(SLC2A10):c.67G>A (p.Gly23Ser) rs760225405 0.00001
NM_030777.4(SLC2A10):c.681C>T (p.Asn227=) rs201625851 0.00001
NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter) rs756457861 0.00001
NM_030777.4(SLC2A10):c.697A>C (p.Thr233Pro) rs190252962 0.00001
NM_030777.4(SLC2A10):c.720C>A (p.Leu240=) rs374985824 0.00001
NM_030777.4(SLC2A10):c.727C>A (p.Gln243Lys) rs1434246419 0.00001
NM_030777.4(SLC2A10):c.737G>A (p.Gly246Glu) rs564317065 0.00001
NM_030777.4(SLC2A10):c.810G>C (p.Val270=) rs774452914 0.00001
NM_030777.4(SLC2A10):c.826C>A (p.Leu276Ile) rs760309737 0.00001
NM_030777.4(SLC2A10):c.858C>T (p.Thr286=) rs758420381 0.00001
NM_030777.4(SLC2A10):c.861C>G (p.Ala287=) rs747254570 0.00001
NM_030777.4(SLC2A10):c.873G>A (p.Val291=) rs755197578 0.00001
NM_030777.4(SLC2A10):c.886C>T (p.Arg296Cys) rs552106000 0.00001
NM_030777.4(SLC2A10):c.960C>T (p.Ala320=) rs369162285 0.00001
NM_030777.4(SLC2A10):c.995T>C (p.Val332Ala) rs570363463 0.00001
NM_030777.4(SLC2A10):c.9C>T (p.His3=) rs1423610543 0.00001
NM_152281.3(GORAB):c.*222G>T rs886045553 0.00001
NM_152281.3(GORAB):c.*998A>G rs1364927513 0.00001
NM_152281.3(GORAB):c.113T>G (p.Leu38Arg) rs781535204 0.00001
NM_152281.3(GORAB):c.156G>T (p.Gly52=) rs190850168 0.00001
NM_152281.3(GORAB):c.274A>G (p.Thr92Ala) rs759352018 0.00001
NM_152281.3(GORAB):c.61+13G>T rs202005173 0.00001
NM_152281.3(GORAB):c.648C>G (p.Asp216Glu) rs780332229 0.00001
NM_152281.3(GORAB):c.649T>C (p.Tyr217His) rs749490786 0.00001
NM_152281.3(GORAB):c.658G>A (p.Ala220Thr) rs183596463 0.00001
NM_152281.3(GORAB):c.784C>T (p.Arg262Ter) rs119455952 0.00001
NM_152281.3(GORAB):c.785G>A (p.Arg262Gln) rs145193965 0.00001
NM_152281.3(GORAB):c.805G>A (p.Glu269Lys) rs765224001 0.00001
NM_152281.3(GORAB):c.82C>T (p.Arg28Cys) rs761243601 0.00001
46;X;t(X;10)(p11.2;q24.3)
ATP6V0A2, 1-BP INS, 100A
ATP7A, 8-BP DEL, NT1552
ELN, 1-BP DEL, 2159C
ELN, 25-BP DEL, NT2114
ELN, EX9-33DUP
GORAB, 1-BP DEL, 257C
GRCh37/hg19 7q11.23(chr7:73475600-73478833)x1
NC_000010.10:g.(?_97366519)_(97366720_?)dup
NC_000010.10:g.(?_97366519)_(97626140_?)del
NC_000010.10:g.(?_97376214)_(97376391_?)del
NC_000010.10:g.(?_97402729)_(97413134_?)dup
NC_000011.10:g.(?_65871960)_(65872944_?)del
NC_000011.9:g.(?_65633902)_(66115026_?)dup
NC_000011.9:g.(?_65634389)_(65639825_?)dup
NC_000020.10:g.(?_45353660)_(45355645_?)del
NC_000020.10:g.(?_45357972)_(45358147_?)del
NC_000020.10:g.(?_45362375)_(45362493_?)del
NC_000020.11:g.(?_46709717)_(46733854_?)del
NC_000023.10:g.(?_76829695)_(77381327_?)dup
NC_000023.10:g.(?_76888675)_(77264780_?)dup
NC_000023.10:g.(?_76972588)_(77302067_?)del
NC_000023.10:g.(?_77150786)_(77289339_?)dup
NC_000023.10:g.(?_77227108)_(77227268_?)del
NC_000023.10:g.(?_77227108)_(77258743_?)del
NC_000023.10:g.(?_77227108)_(77305902_?)dup
NC_000023.10:g.(?_77227129)_(77302077_?)dup
NC_000023.10:g.(?_77227139)_(77271398_?)del
NC_000023.10:g.(?_77227139)_(77275915_?)dup
NC_000023.10:g.(?_77227139)_(77284961_?)dup
NC_000023.10:g.(?_77227139)_(77289339_?)del
NC_000023.10:g.(?_77227139)_(77381327_?)dup
NC_000023.10:g.(?_77243718)_(77245474_?)del
NC_000023.10:g.(?_77243738)_(77302067_?)dup
NC_000023.10:g.(?_77264579)_(77264780_?)dup
NC_000023.10:g.(?_77264579)_(77268629_?)del
NC_000023.10:g.(?_77264589)_(77264770_?)dup
NC_000023.10:g.(?_77264993)_(77268389_?)del
NC_000023.10:g.(?_77266653)_(77268629_?)dup
NC_000023.10:g.(?_77266653)_(77271398_?)dup
NC_000023.10:g.(?_77266653)_(77302067_?)dup
NC_000023.10:g.(?_77266663)_(77268619_?)dup
NC_000023.10:g.(?_77268356)_(77271398_?)del
NC_000023.10:g.(?_77270139)_(77271398_?)del
NC_000023.10:g.(?_77270149)_(77305902_?)dup
NC_000023.10:g.(?_77271231)_(77271398_?)del
NC_000023.10:g.(?_77275721)_(77279056_?)del
NC_000023.10:g.(?_77275721)_(77381327_?)dup
NC_000023.10:g.(?_77275731)_(77302067_?)dup
NC_000023.10:g.(?_77276422)_(77276596_?)del
NC_000023.10:g.(?_77284727)_(77302087_?)dup
NC_000023.10:g.(?_77289083)_(77301089_?)dup
NC_000023.10:g.(?_77298795)_(77302067_?)dup
NC_000023.10:g.(?_77300947)_(77302067_?)del
NC_000023.10:g.(?_77300947)_(77381327_?)dup
NG_008254.1:g.48570_71295dup22726
NM_000052.7(ATP7A):c.1003A>G (p.Ile335Val)
NM_000052.7(ATP7A):c.1004T>C (p.Ile335Thr)
NM_000052.7(ATP7A):c.1005A>G (p.Ile335Met) rs2149083240
NM_000052.7(ATP7A):c.1008G>A (p.Glu336=)
NM_000052.7(ATP7A):c.1017A>T (p.Ser339=)
NM_000052.7(ATP7A):c.1023G>A (p.Gly341=) rs374656309
NM_000052.7(ATP7A):c.1029T>C (p.Tyr343=)
NM_000052.7(ATP7A):c.1032A>G (p.Arg344=)
NM_000052.7(ATP7A):c.1037G>T (p.Ser346Ile)
NM_000052.7(ATP7A):c.1047T>A (p.Ser349Arg) rs2077658544
NM_000052.7(ATP7A):c.1050A>G (p.Glu350=)
NM_000052.7(ATP7A):c.1052T>A (p.Val351Asp)
NM_000052.7(ATP7A):c.105T>C (p.Gly35=)
NM_000052.7(ATP7A):c.1060A>G (p.Thr354Ala) rs1557231859
NM_000052.7(ATP7A):c.1060A>T (p.Thr354Ser)
NM_000052.7(ATP7A):c.1062C>A (p.Thr354=)
NM_000052.7(ATP7A):c.1069T>C (p.Ser357Pro)
NM_000052.7(ATP7A):c.1070C>T (p.Ser357Phe)
NM_000052.7(ATP7A):c.1074C>T (p.Pro358=) rs2149083275
NM_000052.7(ATP7A):c.1077del (p.Ser360fs)
NM_000052.7(ATP7A):c.1080C>T (p.Ser360=)
NM_000052.7(ATP7A):c.1085C>A (p.Ser362Tyr)
NM_000052.7(ATP7A):c.108G>A (p.Val36=) rs2149073882
NM_000052.7(ATP7A):c.1108G>A (p.Val370Ile)
NM_000052.7(ATP7A):c.1126A>G (p.Thr376Ala) rs782616685
NM_000052.7(ATP7A):c.1127C>A (p.Thr376Lys) rs2077659011
NM_000052.7(ATP7A):c.1128A>G (p.Thr376=)
NM_000052.7(ATP7A):c.112C>T (p.His38Tyr) rs1603378831
NM_000052.7(ATP7A):c.1136C>G (p.Thr379Ser)
NM_000052.7(ATP7A):c.1139_1142delinsGAA (p.Val380fs)
NM_000052.7(ATP7A):c.1146C>T (p.Asn382=) rs2149083320
NM_000052.7(ATP7A):c.1147A>G (p.Ile383Val)
NM_000052.7(ATP7A):c.1148T>C (p.Ile383Thr)
NM_000052.7(ATP7A):c.1151A>G (p.Asp384Gly)
NM_000052.7(ATP7A):c.1154G>A (p.Gly385Asp)
NM_000052.7(ATP7A):c.1157T>G (p.Met386Arg) rs2149083331
NM_000052.7(ATP7A):c.1159A>C (p.Thr387Pro) rs1569549600
NM_000052.7(ATP7A):c.1166A>G (p.Asn389Ser)
NM_000052.7(ATP7A):c.1170C>T (p.Ser390=) rs2149083338
NM_000052.7(ATP7A):c.1172del (p.Cys391fs)
NM_000052.7(ATP7A):c.1176G>A (p.Val392=) rs2149083343
NM_000052.7(ATP7A):c.1177C>G (p.Gln393Glu)
NM_000052.7(ATP7A):c.117T>A (p.Ile39=)
NM_000052.7(ATP7A):c.1182T>C (p.Ser394=) rs2149083355
NM_000052.7(ATP7A):c.1183A>G (p.Ile395Val)
NM_000052.7(ATP7A):c.1184T>C (p.Ile395Thr)
NM_000052.7(ATP7A):c.1190G>C (p.Gly397Ala)
NM_000052.7(ATP7A):c.1191T>A (p.Gly397=) rs2149083372
NM_000052.7(ATP7A):c.120+14T>C
NM_000052.7(ATP7A):c.120+15G>A
NM_000052.7(ATP7A):c.120+20C>T
NM_000052.7(ATP7A):c.120+7T>C rs2149073895
NM_000052.7(ATP7A):c.120+8A>T
NM_000052.7(ATP7A):c.120+9C>T
NM_000052.7(ATP7A):c.1200A>G (p.Ser400=)
NM_000052.7(ATP7A):c.1202A>G (p.Lys401Arg)
NM_000052.7(ATP7A):c.1207C>T (p.Pro403Ser)
NM_000052.7(ATP7A):c.120G>A (p.Lys40=)
NM_000052.7(ATP7A):c.121-12T>G
NM_000052.7(ATP7A):c.121-14T>G
NM_000052.7(ATP7A):c.121-2del rs1287511385
NM_000052.7(ATP7A):c.1211G>T (p.Gly404Val)
NM_000052.7(ATP7A):c.1220C>T (p.Ser407Phe)
NM_000052.7(ATP7A):c.1221C>T (p.Ser407=)
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter) rs72554636
NM_000052.7(ATP7A):c.1238C>T (p.Ala413Val)
NM_000052.7(ATP7A):c.1242T>G (p.Asn414Lys)
NM_000052.7(ATP7A):c.1251G>T (p.Gly417=) rs781846400
NM_000052.7(ATP7A):c.1253C>T (p.Thr418Ile)
NM_000052.7(ATP7A):c.1256T>C (p.Val419Ala)
NM_000052.7(ATP7A):c.1257T>G (p.Val419=)
NM_000052.7(ATP7A):c.1257_1267del (p.Glu420fs)
NM_000052.7(ATP7A):c.125C>T (p.Ser42Leu)
NM_000052.7(ATP7A):c.1266T>A (p.Asp422Glu)
NM_000052.7(ATP7A):c.126A>G (p.Ser42=) rs2149082519
NM_000052.7(ATP7A):c.1273del (p.Leu424_Leu425insTer) rs2077660153
NM_000052.7(ATP7A):c.127C>T (p.Leu43=)
NM_000052.7(ATP7A):c.1285G>T (p.Glu429Ter)
NM_000052.7(ATP7A):c.1296_1297del (p.Gly433fs)
NM_000052.7(ATP7A):c.1297G>A (p.Gly433Arg)
NM_000052.7(ATP7A):c.1302A>G (p.Ala434=)
NM_000052.7(ATP7A):c.1303A>G (p.Ile435Val)
NM_000052.7(ATP7A):c.1306G>C (p.Glu436Gln)
NM_000052.7(ATP7A):c.1326T>C (p.Ala442=) rs2149083467
NM_000052.7(ATP7A):c.1334C>T (p.Ser445Leu) rs2149083480
NM_000052.7(ATP7A):c.1336+10A>C
NM_000052.7(ATP7A):c.1336+10A>G
NM_000052.7(ATP7A):c.1336+3A>G
NM_000052.7(ATP7A):c.1336+7dup
NM_000052.7(ATP7A):c.1336+9C>A
NM_000052.7(ATP7A):c.1337-16T>A
NM_000052.7(ATP7A):c.1337-17C>G
NM_000052.7(ATP7A):c.1340C>T (p.Thr447Met)
NM_000052.7(ATP7A):c.1344T>C (p.Asn448=) rs2149087769
NM_000052.7(ATP7A):c.1348C>T (p.Pro450Ser)
NM_000052.7(ATP7A):c.1349C>T (p.Pro450Leu)
NM_000052.7(ATP7A):c.1350G>A (p.Pro450=)
NM_000052.7(ATP7A):c.1350G>T (p.Pro450=) rs782421584
NM_000052.7(ATP7A):c.1358_1363del (p.Val453_Ile454del)
NM_000052.7(ATP7A):c.1361T>G (p.Ile454Arg)
NM_000052.7(ATP7A):c.1364C>T (p.Ala455Val)
NM_000052.7(ATP7A):c.1368G>T (p.Gln456His)
NM_000052.7(ATP7A):c.136A>G (p.Lys46Glu) rs1603381269
NM_000052.7(ATP7A):c.1374A>G (p.Ser458=) rs2077718812
NM_000052.7(ATP7A):c.1376C>A (p.Ser459Ter)
NM_000052.7(ATP7A):c.1395T>A (p.Thr465=)
NM_000052.7(ATP7A):c.1400C>A (p.Thr467Asn)
NM_000052.7(ATP7A):c.1400C>G (p.Thr467Ser)
NM_000052.7(ATP7A):c.1400C>T (p.Thr467Ile)
NM_000052.7(ATP7A):c.1402A>C (p.Asn468His)
NM_000052.7(ATP7A):c.1406A>G (p.Glu469Gly) rs1377636628
NM_000052.7(ATP7A):c.140dup (p.Asn47fs)
NM_000052.7(ATP7A):c.1414A>G (p.Thr472Ala) rs2149087825
NM_000052.7(ATP7A):c.1415_1416insATACA (p.Lys473fs)
NM_000052.7(ATP7A):c.1416T>C (p.Thr472=) rs2149087828
NM_000052.7(ATP7A):c.1419A>G (p.Lys473=)
NM_000052.7(ATP7A):c.1419_1420insCTCT (p.Gly474fs)
NM_000052.7(ATP7A):c.1422G>A (p.Gly474=)
NM_000052.7(ATP7A):c.1424_1425del (p.Met475fs)
NM_000052.7(ATP7A):c.1431A>G (p.Pro477=) rs2077719509
NM_000052.7(ATP7A):c.1439_1443del (p.Asp480fs)
NM_000052.7(ATP7A):c.143C>G (p.Ala48Gly)
NM_000052.7(ATP7A):c.1443G>A (p.Lys481=)
NM_000052.7(ATP7A):c.1461A>C (p.Ser487=) rs2149087866
NM_000052.7(ATP7A):c.1463C>T (p.Ser488Phe)
NM_000052.7(ATP7A):c.1464T>C (p.Ser488=)
NM_000052.7(ATP7A):c.1465_1466del (p.Lys489fs)
NM_000052.7(ATP7A):c.1473C>T (p.Tyr491=)
NM_000052.7(ATP7A):c.1478A>G (p.Gln493Arg) rs2077719880
NM_000052.7(ATP7A):c.147T>C (p.Thr49=)
NM_000052.7(ATP7A):c.1486G>A (p.Gly496Ser)
NM_000052.7(ATP7A):c.1493C>G (p.Thr498Ser)
NM_000052.7(ATP7A):c.1498G>A (p.Ala500Thr) rs2149087885
NM_000052.7(ATP7A):c.14T>C (p.Met5Thr)
NM_000052.7(ATP7A):c.1500T>A (p.Ala500=)
NM_000052.7(ATP7A):c.1500T>G (p.Ala500=)
NM_000052.7(ATP7A):c.1504T>C (p.Cys502Arg)
NM_000052.7(ATP7A):c.1506T>C (p.Cys502=) rs2149087893
NM_000052.7(ATP7A):c.150T>A (p.Ile50=) rs2149082532
NM_000052.7(ATP7A):c.1523G>A (p.Arg508Gln)
NM_000052.7(ATP7A):c.1524G>A (p.Arg508=)
NM_000052.7(ATP7A):c.152T>C (p.Ile51Thr)
NM_000052.7(ATP7A):c.1534C>T (p.Arg512Trp) rs1030215501
NM_000052.7(ATP7A):c.1536G>T (p.Arg512=) rs1557232820
NM_000052.7(ATP7A):c.1537G>A (p.Glu513Lys) rs1569549699
NM_000052.7(ATP7A):c.1537G>T (p.Glu513Ter) rs1569549699
NM_000052.7(ATP7A):c.1537dup (p.Glu513fs)
NM_000052.7(ATP7A):c.1540G>A (p.Glu514Lys)
NM_000052.7(ATP7A):c.1543+15A>G
NM_000052.7(ATP7A):c.1543+17G>A rs2149087916
NM_000052.7(ATP7A):c.1543+18C>T
NM_000052.7(ATP7A):c.1543+8A>C
NM_000052.7(ATP7A):c.1544-16T>G
NM_000052.7(ATP7A):c.1544-1G>A rs797045331
NM_000052.7(ATP7A):c.1544-2A>T rs2077751404
NM_000052.7(ATP7A):c.1544-7C>T rs2149090207
NM_000052.7(ATP7A):c.1544-872C>G
NM_000052.7(ATP7A):c.1555A>G (p.Ile519Val)
NM_000052.7(ATP7A):c.1555A>T (p.Ile519Leu) rs1234971496
NM_000052.7(ATP7A):c.1562T>C (p.Val521Ala)
NM_000052.7(ATP7A):c.1562T>G (p.Val521Gly)
NM_000052.7(ATP7A):c.1566C>T (p.Ala522=) rs2149090230
NM_000052.7(ATP7A):c.156T>C (p.Tyr52=)
NM_000052.7(ATP7A):c.1581G>A (p.Lys527=) rs2149090234
NM_000052.7(ATP7A):c.1585G>A (p.Glu529Lys)
NM_000052.7(ATP7A):c.1592G>A (p.Arg531Lys)
NM_000052.7(ATP7A):c.1592G>T (p.Arg531Met) rs782048861
NM_000052.7(ATP7A):c.1597A>G (p.Asn533Asp) rs1057524455
NM_000052.7(ATP7A):c.1599_1603delinsGAGA (p.Asn533fs)
NM_000052.7(ATP7A):c.159C>T (p.Asp53=) rs2149082542
NM_000052.7(ATP7A):c.1602T>G (p.Pro534=)
NM_000052.7(ATP7A):c.1605del (p.Val536fs)
NM_000052.7(ATP7A):c.1606G>C (p.Val536Leu)
NM_000052.7(ATP7A):c.1608_1611del (p.Ile537fs)
NM_000052.7(ATP7A):c.1610T>C (p.Ile537Thr)
NM_000052.7(ATP7A):c.1611A>G (p.Ile537Met)
NM_000052.7(ATP7A):c.1614_1615delinsCAT (p.Gln538fs)
NM_000052.7(ATP7A):c.1618C>G (p.Pro540Ala)
NM_000052.7(ATP7A):c.1621A>G (p.Met541Val) rs1557233382
NM_000052.7(ATP7A):c.1629A>G (p.Ala543=)
NM_000052.7(ATP7A):c.1638C>A (p.Ile546=)
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter) rs797045332
NM_000052.7(ATP7A):c.1645C>G (p.Leu549Val)
NM_000052.7(ATP7A):c.164A>T (p.Lys55Ile)
NM_000052.7(ATP7A):c.1654G>A (p.Gly552Arg)
NM_000052.7(ATP7A):c.1659C>T (p.Ala553=)
NM_000052.7(ATP7A):c.165A>C (p.Lys55Asn)
NM_000052.7(ATP7A):c.1662T>G (p.Thr554=) rs2149090265
NM_000052.7(ATP7A):c.1667T>C (p.Ile556Thr)
NM_000052.7(ATP7A):c.1669G>C (p.Glu557Gln)
NM_000052.7(ATP7A):c.166C>T (p.Leu56=) rs2149082544
NM_000052.7(ATP7A):c.1670A>C (p.Glu557Ala)
NM_000052.7(ATP7A):c.1675G>A (p.Ala559Thr) rs1603383823
NM_000052.7(ATP7A):c.1681G>A (p.Glu561Lys)
NM_000052.7(ATP7A):c.1681G>C (p.Glu561Gln) rs2077752247
NM_000052.7(ATP7A):c.1683A>C (p.Glu561Asp)
NM_000052.7(ATP7A):c.1684G>A (p.Gly562Arg)
NM_000052.7(ATP7A):c.1688A>T (p.Asp563Val) rs782561107
NM_000052.7(ATP7A):c.1690G>A (p.Gly564Ser)
NM_000052.7(ATP7A):c.1695T>C (p.Val565=) rs2149090293
NM_000052.7(ATP7A):c.1697del (p.Leu566fs)
NM_000052.7(ATP7A):c.169C>T (p.Gln57Ter)
NM_000052.7(ATP7A):c.1701A>G (p.Glu567=) rs2149090295
NM_000052.7(ATP7A):c.1707+12T>G
NM_000052.7(ATP7A):c.1707+16del
NM_000052.7(ATP7A):c.1707+17G>A
NM_000052.7(ATP7A):c.1707+19G>A
NM_000052.7(ATP7A):c.1707+6T>A rs797045334
NM_000052.7(ATP7A):c.1707+9G>C rs2149090300
NM_000052.7(ATP7A):c.1708-13T>G
NM_000052.7(ATP7A):c.1708-16G>A
NM_000052.7(ATP7A):c.1708-19A>G
NM_000052.7(ATP7A):c.1708-4dup
NM_000052.7(ATP7A):c.1708-5A>C rs782104249
NM_000052.7(ATP7A):c.1708-5A>G
NM_000052.7(ATP7A):c.1717A>T (p.Met573Leu)
NM_000052.7(ATP7A):c.1719G>A (p.Met573Ile)
NM_000052.7(ATP7A):c.1721C>G (p.Thr574Arg) rs782076879
NM_000052.7(ATP7A):c.1730C>T (p.Ser577Phe) rs2149093499
NM_000052.7(ATP7A):c.1731C>T (p.Ser577=) rs2149093501
NM_000052.7(ATP7A):c.1735G>A (p.Val579Ile) rs372116692
NM_000052.7(ATP7A):c.1735G>C (p.Val579Leu)
NM_000052.7(ATP7A):c.1748A>G (p.Glu583Gly)
NM_000052.7(ATP7A):c.1753A>G (p.Ser585Gly) rs2077799245
NM_000052.7(ATP7A):c.1754G>C (p.Ser585Thr)
NM_000052.7(ATP7A):c.1755T>C (p.Ser585=)
NM_000052.7(ATP7A):c.1760C>T (p.Thr587Ile)
NM_000052.7(ATP7A):c.1761A>G (p.Thr587=)
NM_000052.7(ATP7A):c.1764A>G (p.Lys588=)
NM_000052.7(ATP7A):c.1767C>G (p.His589Gln) rs1603384813
NM_000052.7(ATP7A):c.1767C>T (p.His589=)
NM_000052.7(ATP7A):c.1768A>T (p.Arg590Ter)
NM_000052.7(ATP7A):c.1770A>G (p.Arg590=)
NM_000052.7(ATP7A):c.1773G>C (p.Gly591=) rs2149093521
NM_000052.7(ATP7A):c.1776C>G (p.Ile592Met)
NM_000052.7(ATP7A):c.1777C>G (p.Leu593Val) rs2149093524
NM_000052.7(ATP7A):c.1779A>G (p.Leu593=) rs1557234093
NM_000052.7(ATP7A):c.1780T>C (p.Tyr594His)
NM_000052.7(ATP7A):c.1782C>T (p.Tyr594=)
NM_000052.7(ATP7A):c.1788C>A (p.Ser596=) rs368747913
NM_000052.7(ATP7A):c.1788C>T (p.Ser596=) rs368747913
NM_000052.7(ATP7A):c.1793C>T (p.Ala598Val) rs782386693
NM_000052.7(ATP7A):c.1795C>G (p.Leu599Val) rs2149093539
NM_000052.7(ATP7A):c.1797G>A (p.Leu599=)
NM_000052.7(ATP7A):c.17G>A (p.Gly6Asp) rs2077547692
NM_000052.7(ATP7A):c.1802C>G (p.Thr601Ser)
NM_000052.7(ATP7A):c.1803C>A (p.Thr601=)
NM_000052.7(ATP7A):c.1806C>A (p.Asn602Lys)
NM_000052.7(ATP7A):c.1808A>G (p.Lys603Arg)
NM_000052.7(ATP7A):c.180G>A (p.Lys60=)
NM_000052.7(ATP7A):c.1810G>A (p.Ala604Thr) rs2149093552
NM_000052.7(ATP7A):c.1814A>G (p.His605Arg) rs1020034878
NM_000052.7(ATP7A):c.182C>T (p.Thr61Ile)
NM_000052.7(ATP7A):c.1835T>G (p.Ile612Ser) rs1569549840
NM_000052.7(ATP7A):c.1843C>G (p.Pro615Ala)
NM_000052.7(ATP7A):c.1856T>C (p.Ile619Thr) rs1569549841
NM_000052.7(ATP7A):c.1857C>G (p.Ile619Met)
NM_000052.7(ATP7A):c.1864A>G (p.Ile622Val) rs1399879043
NM_000052.7(ATP7A):c.1867G>C (p.Glu623Gln)
NM_000052.7(ATP7A):c.1869+12G>T
NM_000052.7(ATP7A):c.1869+17del
NM_000052.7(ATP7A):c.1869+3A>T
NM_000052.7(ATP7A):c.1869+4A>G
NM_000052.7(ATP7A):c.1869+7G>A rs2149093596
NM_000052.7(ATP7A):c.1869+7G>T rs2149093596
NM_000052.7(ATP7A):c.1869+9C>G rs2149093599
NM_000052.7(ATP7A):c.186A>G (p.Leu62=) rs2149082562
NM_000052.7(ATP7A):c.1870-14A>G
NM_000052.7(ATP7A):c.1870-18T>C
NM_000052.7(ATP7A):c.1870-1G>C rs797045338
NM_000052.7(ATP7A):c.1870-7T>G
NM_000052.7(ATP7A):c.1873T>C (p.Leu625=) rs2149094927
NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter) rs797045339
NM_000052.7(ATP7A):c.1875_1876del (p.Gly626fs)
NM_000052.7(ATP7A):c.1890T>C (p.Ser630=)
NM_000052.7(ATP7A):c.1892T>C (p.Leu631Ser) rs876661241
NM_000052.7(ATP7A):c.1894G>A (p.Val632Ile)
NM_000052.7(ATP7A):c.1896C>G (p.Val632=) rs2149094955
NM_000052.7(ATP7A):c.1897A>G (p.Lys633Glu) rs2149094957
NM_000052.7(ATP7A):c.1899G>A (p.Lys633=)
NM_000052.7(ATP7A):c.189G>A (p.Gln63=)
NM_000052.7(ATP7A):c.1904A>C (p.Asp635Ala)
NM_000052.7(ATP7A):c.1905T>A (p.Asp635Glu)
NM_000052.7(ATP7A):c.1906C>T (p.Arg636Trp) rs1057523112
NM_000052.7(ATP7A):c.1908G>A (p.Arg636=)
NM_000052.7(ATP7A):c.1908G>T (p.Arg636=)
NM_000052.7(ATP7A):c.1910C>T (p.Ser637Leu) rs151340631
NM_000052.7(ATP7A):c.1915A>G (p.Ser639Gly)
NM_000052.7(ATP7A):c.1916G>A (p.Ser639Asn)
NM_000052.7(ATP7A):c.1920C>T (p.His640=) rs2149094980
NM_000052.7(ATP7A):c.1924G>A (p.Asp642Asn)
NM_000052.7(ATP7A):c.1924G>T (p.Asp642Tyr)
NM_000052.7(ATP7A):c.1924_1925del (p.Asp642fs)
NM_000052.7(ATP7A):c.1924del (p.Asp642fs)
NM_000052.7(ATP7A):c.1926T>A (p.Asp642Glu)
NM_000052.7(ATP7A):c.1931A>G (p.Lys644Arg) rs781900997
NM_000052.7(ATP7A):c.1932A>G (p.Lys644=)
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) rs72554640
NM_000052.7(ATP7A):c.1937A>C (p.Glu646Ala) rs2077822914
NM_000052.7(ATP7A):c.1945C>T (p.Gln649Ter)
NM_000052.7(ATP7A):c.1945_1946+2dup rs2077822992
NM_000052.7(ATP7A):c.1946+10T>G rs2149095008
NM_000052.7(ATP7A):c.1946+12G>A
NM_000052.7(ATP7A):c.1946+12G>C
NM_000052.7(ATP7A):c.1946+15G>C
NM_000052.7(ATP7A):c.1946+16T>G
NM_000052.7(ATP7A):c.1946+1G>T rs797045340
NM_000052.7(ATP7A):c.1947-15T>C
NM_000052.7(ATP7A):c.1947-16A>C
NM_000052.7(ATP7A):c.1947-16_1947-14del rs2077824641
NM_000052.7(ATP7A):c.1947-16del rs2149095131
NM_000052.7(ATP7A):c.1947-17T>A
NM_000052.7(ATP7A):c.1947-18T>C
NM_000052.7(ATP7A):c.1947-19T>C
NM_000052.7(ATP7A):c.1947-7A>C
NM_000052.7(ATP7A):c.1947-9C>T rs2077824790
NM_000052.7(ATP7A):c.1950G>C (p.Trp650Cys)
NM_000052.7(ATP7A):c.1956G>A (p.Arg652=) rs2077825077
NM_000052.7(ATP7A):c.1966G>C (p.Val656Leu)
NM_000052.7(ATP7A):c.1972C>G (p.Leu658Val)
NM_000052.7(ATP7A):c.1979T>C (p.Phe660Ser)
NM_000052.7(ATP7A):c.1982G>A (p.Cys661Tyr)
NM_000052.7(ATP7A):c.1984A>T (p.Ile662Phe)
NM_000052.7(ATP7A):c.1987C>T (p.Pro663Ser)
NM_000052.7(ATP7A):c.1988C>T (p.Pro663Leu)
NM_000052.7(ATP7A):c.1990G>C (p.Val664Leu)
NM_000052.7(ATP7A):c.1992A>G (p.Val664=)
NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg) rs797045344
NM_000052.7(ATP7A):c.19G>A (p.Val7Met)
NM_000052.7(ATP7A):c.1A>C (p.Met1Leu)
NM_000052.7(ATP7A):c.2001G>A (p.Leu667=) rs2077825500
NM_000052.7(ATP7A):c.2001G>C (p.Leu667=) rs2077825500
NM_000052.7(ATP7A):c.2010T>C (p.Tyr670=) rs2149095200
NM_000052.7(ATP7A):c.2013G>A (p.Met671Ile)
NM_000052.7(ATP7A):c.2013G>C (p.Met671Ile)
NM_000052.7(ATP7A):c.2013G>T (p.Met671Ile)
NM_000052.7(ATP7A):c.2015T>C (p.Met672Thr)
NM_000052.7(ATP7A):c.2019_2021dup (p.Val673_Met674insIle) rs1569549885
NM_000052.7(ATP7A):c.2028C>T (p.His676=) rs2149095212
NM_000052.7(ATP7A):c.2030A>G (p.His677Arg)
NM_000052.7(ATP7A):c.2033T>G (p.Phe678Cys)
NM_000052.7(ATP7A):c.2040T>C (p.Thr680=) rs2077825942
NM_000052.7(ATP7A):c.2042T>C (p.Leu681Pro)
NM_000052.7(ATP7A):c.2045_2046del (p.His682fs)
NM_000052.7(ATP7A):c.2048A>G (p.His683Arg)
NM_000052.7(ATP7A):c.2051del (p.Asn684fs)
NM_000052.7(ATP7A):c.2052T>C (p.Asn684=)
NM_000052.7(ATP7A):c.2053C>T (p.Gln685Ter)
NM_000052.7(ATP7A):c.2059A>C (p.Met687Leu)
NM_000052.7(ATP7A):c.2059A>T (p.Met687Leu)
NM_000052.7(ATP7A):c.2064T>C (p.Ser688=) rs2149095237
NM_000052.7(ATP7A):c.2068G>C (p.Glu690Gln)
NM_000052.7(ATP7A):c.2076_2078del (p.Met692del)
NM_000052.7(ATP7A):c.2086_2087del (p.His696fs)
NM_000052.7(ATP7A):c.208G>C (p.Gly70Arg)
NM_000052.7(ATP7A):c.2093C>G (p.Ser698Cys)
NM_000052.7(ATP7A):c.2093C>T (p.Ser698Phe) rs2077826335
NM_000052.7(ATP7A):c.2094T>C (p.Ser698=) rs2077826356
NM_000052.7(ATP7A):c.2096T>A (p.Met699Lys) rs2149095258
NM_000052.7(ATP7A):c.2101C>T (p.Leu701=)
NM_000052.7(ATP7A):c.210C>T (p.Gly70=)
NM_000052.7(ATP7A):c.2110C>T (p.Gln704Ter)
NM_000052.7(ATP7A):c.2112G>C (p.Gln704His)
NM_000052.7(ATP7A):c.2112G>T (p.Gln704His)
NM_000052.7(ATP7A):c.2127G>A (p.Leu709=)
NM_000052.7(ATP7A):c.2142G>C (p.Leu714Phe)
NM_000052.7(ATP7A):c.2143C>T (p.Leu715=) rs2077826844
NM_000052.7(ATP7A):c.2145G>A (p.Leu715=) rs2149095287
NM_000052.7(ATP7A):c.2149T>C (p.Phe717Leu) rs1557234537
NM_000052.7(ATP7A):c.214G>T (p.Asp72Tyr) rs2077650482
NM_000052.7(ATP7A):c.2154A>G (p.Leu718=)
NM_000052.7(ATP7A):c.2158T>G (p.Cys720Gly) rs1569549892
NM_000052.7(ATP7A):c.2160T>C (p.Cys720=) rs797045346
NM_000052.7(ATP7A):c.2164_2167del (p.Pro722fs)
NM_000052.7(ATP7A):c.2166T>A (p.Pro722=)
NM_000052.7(ATP7A):c.2167G>C (p.Val723Leu)
NM_000052.7(ATP7A):c.216T>C (p.Asp72=)
NM_000052.7(ATP7A):c.2170C>G (p.Gln724Glu)
NM_000052.7(ATP7A):c.2172+12G>C rs1557234548
NM_000052.7(ATP7A):c.2172+13T>C
NM_000052.7(ATP7A):c.2172+2C>T rs2077827112
NM_000052.7(ATP7A):c.2172+5G>A rs797045347
NM_000052.7(ATP7A):c.2172+5G>C rs797045347
NM_000052.7(ATP7A):c.2172+8A>C rs2149095311
NM_000052.7(ATP7A):c.2172+8_2172+12dup rs782170618
NM_000052.7(ATP7A):c.2173-15A>G
NM_000052.7(ATP7A):c.2173-15A>T
NM_000052.7(ATP7A):c.2173-4G>T
NM_000052.7(ATP7A):c.2178C>G (p.Phe726Leu)
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg) rs72554644
NM_000052.7(ATP7A):c.2182G>C (p.Gly728Arg) rs2077837052
NM_000052.7(ATP7A):c.2186G>A (p.Trp729Ter) rs2149095968
NM_000052.7(ATP7A):c.2187G>A (p.Trp729Ter) rs797045351
NM_000052.7(ATP7A):c.2193C>T (p.Phe731=)
NM_000052.7(ATP7A):c.2196C>T (p.Tyr732=)
NM_000052.7(ATP7A):c.2197A>G (p.Ile733Val)
NM_000052.7(ATP7A):c.21G>C (p.Val7=) rs2149073808
NM_000052.7(ATP7A):c.2200C>A (p.Gln734Lys)
NM_000052.7(ATP7A):c.2202G>C (p.Gln734His) rs2149095977
NM_000052.7(ATP7A):c.2205T>A (p.Ala735=)
NM_000052.7(ATP7A):c.2207A>T (p.Tyr736Phe) rs1569549929
NM_000052.7(ATP7A):c.2207del (p.Tyr736fs)
NM_000052.7(ATP7A):c.2208T>C (p.Tyr736=) rs1557234725
NM_000052.7(ATP7A):c.220G>C (p.Val74Leu)
NM_000052.7(ATP7A):c.2214A>G (p.Ala738=)
NM_000052.7(ATP7A):c.2219A>G (p.Lys740Arg) rs2077837209
NM_000052.7(ATP7A):c.2224A>T (p.Lys742Ter)
NM_000052.7(ATP7A):c.222T>C (p.Val74=)
NM_000052.7(ATP7A):c.2230G>A (p.Ala744Thr)
NM_000052.7(ATP7A):c.2242G>A (p.Val748Ile)
NM_000052.7(ATP7A):c.2244A>G (p.Val748=) rs2149095993
NM_000052.7(ATP7A):c.2247G>A (p.Leu749=)
NM_000052.7(ATP7A):c.2251G>A (p.Val751Met)
NM_000052.7(ATP7A):c.2253G>T (p.Val751=)
NM_000052.7(ATP7A):c.2261_2262del (p.Thr754fs)
NM_000052.7(ATP7A):c.2262C>T (p.Thr754=)
NM_000052.7(ATP7A):c.2265C>T (p.Thr755=) rs2149096003
NM_000052.7(ATP7A):c.2267T>C (p.Ile756Thr)
NM_000052.7(ATP7A):c.2267T>G (p.Ile756Ser)
NM_000052.7(ATP7A):c.2277C>T (p.Ala759=) rs1473914623
NM_000052.7(ATP7A):c.2304A>G (p.Ala768=)
NM_000052.7(ATP7A):c.2305A>G (p.Met769Val)
NM_000052.7(ATP7A):c.2319C>A (p.Ala773=) rs2149096036
NM_000052.7(ATP7A):c.2322A>G (p.Lys774=) rs2149096038
NM_000052.7(ATP7A):c.2334dup (p.Thr779fs)
NM_000052.7(ATP7A):c.2337T>A (p.Thr779=)
NM_000052.7(ATP7A):c.2340C>A (p.Phe780Leu) rs2077838145
NM_000052.7(ATP7A):c.2345A>G (p.Asp782Gly)
NM_000052.7(ATP7A):c.2346C>T (p.Asp782=)
NM_000052.7(ATP7A):c.2349A>G (p.Thr783=)
NM_000052.7(ATP7A):c.2352C>T (p.Pro784=)
NM_000052.7(ATP7A):c.2353C>A (p.Pro785Thr) rs1057523512
NM_000052.7(ATP7A):c.2355T>A (p.Pro785=)
NM_000052.7(ATP7A):c.2359C>T (p.Leu787=) rs2149096056
NM_000052.7(ATP7A):c.235G>A (p.Asp79Asn)
NM_000052.7(ATP7A):c.2361G>A (p.Leu787=) rs2149096057
NM_000052.7(ATP7A):c.2365G>T (p.Val789Leu) rs781834675
NM_000052.7(ATP7A):c.236A>G (p.Asp79Gly)
NM_000052.7(ATP7A):c.2371A>G (p.Ile791Val)
NM_000052.7(ATP7A):c.2373T>G (p.Ile791Met) rs2077838404
NM_000052.7(ATP7A):c.2376A>G (p.Ala792=)
NM_000052.7(ATP7A):c.2376A>T (p.Ala792=) rs1208805004
NM_000052.7(ATP7A):c.237C>T (p.Asp79=)
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) rs72554645
NM_000052.7(ATP7A):c.2391G>A (p.Leu797=) rs1603385697
NM_000052.7(ATP7A):c.2401G>A (p.Ala801Thr)
NM_000052.7(ATP7A):c.2404A>G (p.Lys802Glu)
NM_000052.7(ATP7A):c.2406+12A>C
NM_000052.7(ATP7A):c.2406+14G>A
NM_000052.7(ATP7A):c.2406+14G>T
NM_000052.7(ATP7A):c.2406+16G>A
NM_000052.7(ATP7A):c.2406+16G>T
NM_000052.7(ATP7A):c.2406+16_2406+18del rs782017566
NM_000052.7(ATP7A):c.2406+19A>T
NM_000052.7(ATP7A):c.2406+20C>T
NM_000052.7(ATP7A):c.2406+3A>T
NM_000052.7(ATP7A):c.2406+6G>A rs782307719
NM_000052.7(ATP7A):c.2407-10del
NM_000052.7(ATP7A):c.2407-19T>A
NM_000052.7(ATP7A):c.2407-19TGTT[3]
NM_000052.7(ATP7A):c.2407-433A>G
NM_000052.7(ATP7A):c.2407-4A>G rs2149096806
NM_000052.7(ATP7A):c.2407-4A>T rs2149096806
NM_000052.7(ATP7A):c.2407G>A (p.Gly803Ser)
NM_000052.7(ATP7A):c.2415A>C (p.Thr805=)
NM_000052.7(ATP7A):c.2422G>T (p.Ala808Ser)
NM_000052.7(ATP7A):c.2429C>A (p.Ala810Glu)
NM_000052.7(ATP7A):c.2433G>A (p.Lys811=)
NM_000052.7(ATP7A):c.2438T>C (p.Ile813Thr)
NM_000052.7(ATP7A):c.2445A>G (p.Leu815=) rs782694822
NM_000052.7(ATP7A):c.2446del (p.Gln816fs)
NM_000052.7(ATP7A):c.2450C>T (p.Ala817Val) rs781879594
NM_000052.7(ATP7A):c.2453C>T (p.Thr818Ile)
NM_000052.7(ATP7A):c.2454A>C (p.Thr818=) rs2149096833
NM_000052.7(ATP7A):c.2454A>G (p.Thr818=)
NM_000052.7(ATP7A):c.2456A>G (p.Glu819Gly)
NM_000052.7(ATP7A):c.2458G>C (p.Ala820Pro) rs1557234938
NM_000052.7(ATP7A):c.2460A>C (p.Ala820=)
NM_000052.7(ATP7A):c.2460A>T (p.Ala820=) rs2149096836
NM_000052.7(ATP7A):c.2463T>C (p.Thr821=) rs2149096842
NM_000052.7(ATP7A):c.2464A>G (p.Ile822Val)
NM_000052.7(ATP7A):c.2465T>C (p.Ile822Thr) rs782768766
NM_000052.7(ATP7A):c.2467G>C (p.Val823Leu)
NM_000052.7(ATP7A):c.2467del (p.Ile822_Val823insTer) rs1569549974
NM_000052.7(ATP7A):c.2470A>T (p.Thr824Ser)
NM_000052.7(ATP7A):c.2472T>G (p.Thr824=)
NM_000052.7(ATP7A):c.2473C>G (p.Leu825Val)
NM_000052.7(ATP7A):c.2473C>T (p.Leu825Phe)
NM_000052.7(ATP7A):c.2486A>G (p.Asn829Ser)
NM_000052.7(ATP7A):c.2488A>G (p.Ile830Val)
NM_000052.7(ATP7A):c.2491C>T (p.Leu831Phe)
NM_000052.7(ATP7A):c.2492T>A (p.Leu831His)
NM_000052.7(ATP7A):c.2497A>G (p.Ser833Gly) rs2149096859
NM_000052.7(ATP7A):c.2498+16C>G
NM_000052.7(ATP7A):c.2498+18T>C
NM_000052.7(ATP7A):c.2498+2T>G rs797045357
NM_000052.7(ATP7A):c.2498+3A>T rs1603386005
NM_000052.7(ATP7A):c.2499-10T>C rs2149097330
NM_000052.7(ATP7A):c.2499-11C>A
NM_000052.7(ATP7A):c.2499-12A>T rs2149097328
NM_000052.7(ATP7A):c.2499-17T>C
NM_000052.7(ATP7A):c.2499-18A>G
NM_000052.7(ATP7A):c.2499-20T>C
NM_000052.7(ATP7A):c.2499-3C>T rs2077858280
NM_000052.7(ATP7A):c.2499-7T>A
NM_000052.7(ATP7A):c.2513A>G (p.Asp838Gly) rs1603386154
NM_000052.7(ATP7A):c.251T>C (p.Leu84Ser)
NM_000052.7(ATP7A):c.2521C>T (p.Leu841Phe)
NM_000052.7(ATP7A):c.2526A>G (p.Val842=)
NM_000052.7(ATP7A):c.2528A>G (p.Gln843Arg)
NM_000052.7(ATP7A):c.2536G>A (p.Asp846Asn)
NM_000052.7(ATP7A):c.2538T>C (p.Asp846=)
NM_000052.7(ATP7A):c.2540T>C (p.Ile847Thr) rs2149097365
NM_000052.7(ATP7A):c.2557G>T (p.Gly853Ter) rs2149097380
NM_000052.7(ATP7A):c.2559A>C (p.Gly853=)
NM_000052.7(ATP7A):c.256_262del (p.Asp86fs)
NM_000052.7(ATP7A):c.2574G>A (p.Val858=)
NM_000052.7(ATP7A):c.2576A>G (p.Asp859Gly) rs2077859082
NM_000052.7(ATP7A):c.257A>G (p.Asp86Gly) rs2149082599
NM_000052.7(ATP7A):c.2580T>A (p.Gly860=) rs2149097387
NM_000052.7(ATP7A):c.2586T>G (p.Val862=) rs2149097395
NM_000052.7(ATP7A):c.2588T>C (p.Ile863Thr)
NM_000052.7(ATP7A):c.2596C>T (p.His866Tyr)
NM_000052.7(ATP7A):c.2603T>C (p.Met868Thr) rs2149097408
NM_000052.7(ATP7A):c.260C>T (p.Thr87Ile) rs782769542
NM_000052.7(ATP7A):c.261C>G (p.Thr87=) rs2149082604
NM_000052.7(ATP7A):c.2624C>G (p.Thr875Arg)
NM_000052.7(ATP7A):c.2626+11T>C
NM_000052.7(ATP7A):c.2626+11T>G rs2077859760
NM_000052.7(ATP7A):c.2626+12C>G
NM_000052.7(ATP7A):c.2626+13A>G
NM_000052.7(ATP7A):c.2626+16G>A rs2149097436
NM_000052.7(ATP7A):c.2626+16G>C
NM_000052.7(ATP7A):c.2626+17G>C
NM_000052.7(ATP7A):c.2626+18A>G
NM_000052.7(ATP7A):c.2626+19T>G
NM_000052.7(ATP7A):c.2626+5G>T rs2149097418
NM_000052.7(ATP7A):c.2626+8C>T rs2149097424
NM_000052.7(ATP7A):c.2627-12C>T
NM_000052.7(ATP7A):c.2627-13A>T
NM_000052.7(ATP7A):c.2627-16T>G
NM_000052.7(ATP7A):c.2627-19A>G
NM_000052.7(ATP7A):c.2627-19A>T
NM_000052.7(ATP7A):c.2627-7C>T rs1603386991
NM_000052.7(ATP7A):c.2627-8C>G
NM_000052.7(ATP7A):c.2628G>A (p.Gly876=)
NM_000052.7(ATP7A):c.2632G>A (p.Ala878Thr)
NM_000052.7(ATP7A):c.2635A>T (p.Met879Leu)
NM_000052.7(ATP7A):c.2637G>T (p.Met879Ile)
NM_000052.7(ATP7A):c.2646T>G (p.Ala882=)
NM_000052.7(ATP7A):c.2650A>G (p.Lys884Glu)
NM_000052.7(ATP7A):c.2654C>A (p.Pro885His)
NM_000052.7(ATP7A):c.2655T>C (p.Pro885=) rs781976106
NM_000052.7(ATP7A):c.2658C>T (p.Gly886=)
NM_000052.7(ATP7A):c.2661C>T (p.Ser887=) rs2149099638
NM_000052.7(ATP7A):c.2662A>C (p.Thr888Pro)
NM_000052.7(ATP7A):c.2663del (p.Thr888fs) rs2077896094
NM_000052.7(ATP7A):c.2666T>C (p.Val889Ala)
NM_000052.7(ATP7A):c.2679C>G (p.Ser893=)
NM_000052.7(ATP7A):c.2694G>A (p.Gly898=) rs2149099672
NM_000052.7(ATP7A):c.2698C>T (p.Leu900=) rs2149099676
NM_000052.7(ATP7A):c.2704A>G (p.Ile902Val)
NM_000052.7(ATP7A):c.2712A>T (p.Ala904=) rs1396353749
NM_000052.7(ATP7A):c.2715A>T (p.Thr905=) rs1193758510
NM_000052.7(ATP7A):c.2716C>T (p.His906Tyr)
NM_000052.7(ATP7A):c.2734A>G (p.Thr912Ala)
NM_000052.7(ATP7A):c.2736C>A (p.Thr912=) rs2149099708
NM_000052.7(ATP7A):c.2747T>C (p.Ile916Thr)
NM_000052.7(ATP7A):c.2761G>A (p.Glu921Lys)
NM_000052.7(ATP7A):c.2761G>C (p.Glu921Gln) rs2149099719
NM_000052.7(ATP7A):c.2765A>G (p.Glu922Gly)
NM_000052.7(ATP7A):c.2771A>G (p.Gln924Arg)
NM_000052.7(ATP7A):c.2773_2781+4del
NM_000052.7(ATP7A):c.2774_2775del (p.Thr925fs)
NM_000052.7(ATP7A):c.2775A>G (p.Thr925=) rs1603387045
NM_000052.7(ATP7A):c.2781+14C>T
NM_000052.7(ATP7A):c.2781+17G>C
NM_000052.7(ATP7A):c.2781+5C>T
NM_000052.7(ATP7A):c.2781+8A>T rs2149099742
NM_000052.7(ATP7A):c.2781_2781+1delinsTT
NM_000052.7(ATP7A):c.2782-11T>C
NM_000052.7(ATP7A):c.2782-13T>C
NM_000052.7(ATP7A):c.2782-14A>G
NM_000052.7(ATP7A):c.2782-14del
NM_000052.7(ATP7A):c.2782-17_2782-15del
NM_000052.7(ATP7A):c.2782-4C>T
NM_000052.7(ATP7A):c.2782-6T>C
NM_000052.7(ATP7A):c.2782-8A>C rs2149100096
NM_000052.7(ATP7A):c.2782-9T>C
NM_000052.7(ATP7A):c.2788A>G (p.Ile930Val)
NM_000052.7(ATP7A):c.278C>G (p.Thr93Arg) rs539177302
NM_000052.7(ATP7A):c.2790C>A (p.Ile930=) rs2149100114
NM_000052.7(ATP7A):c.2790C>G (p.Ile930Met)
NM_000052.7(ATP7A):c.279G>A (p.Thr93=)
NM_000052.7(ATP7A):c.2801C>G (p.Ala934Gly)
NM_000052.7(ATP7A):c.2808A>G (p.Lys936=) rs2149100126
NM_000052.7(ATP7A):c.2814T>C (p.Ser938=)
NM_000052.7(ATP7A):c.2815G>A (p.Gly939Ser) rs1569550056
NM_000052.7(ATP7A):c.2819A>G (p.Tyr940Cys)
NM_000052.7(ATP7A):c.281C>T (p.Ala94Val)
NM_000052.7(ATP7A):c.2827C>T (p.Pro943Ser)
NM_000052.7(ATP7A):c.2831T>C (p.Phe944Ser)
NM_000052.7(ATP7A):c.2842G>A (p.Val948Ile) rs2077902319
NM_000052.7(ATP7A):c.2842G>T (p.Val948Phe)
NM_000052.7(ATP7A):c.2849T>C (p.Ile950Thr)
NM_000052.7(ATP7A):c.2851G>A (p.Ala951Thr) rs1557235719
NM_000052.7(ATP7A):c.2859C>G (p.Leu953=)
NM_000052.7(ATP7A):c.2870T>A (p.Ile957Asn)
NM_000052.7(ATP7A):c.2870T>G (p.Ile957Ser)
NM_000052.7(ATP7A):c.2874A>C (p.Val958=)
NM_000052.7(ATP7A):c.2875A>G (p.Ile959Val)
NM_000052.7(ATP7A):c.2887A>G (p.Asn963Asp)
NM_000052.7(ATP7A):c.2898T>C (p.Ile966=)
NM_000052.7(ATP7A):c.2916+11T>G
NM_000052.7(ATP7A):c.2916+19C>T
NM_000052.7(ATP7A):c.2916+2480T>G
NM_000052.7(ATP7A):c.2916+3_2916+6del rs797045364
NM_000052.7(ATP7A):c.2917-13C>A rs1343084607
NM_000052.7(ATP7A):c.2917-13C>T
NM_000052.7(ATP7A):c.2917-14C>G
NM_000052.7(ATP7A):c.2917-14C>T
NM_000052.7(ATP7A):c.2917-15G>T
NM_000052.7(ATP7A):c.2917-16T>C
NM_000052.7(ATP7A):c.2917-19T>G
NM_000052.7(ATP7A):c.2917-4A>G rs2149104823
NM_000052.7(ATP7A):c.2917-6C>T
NM_000052.7(ATP7A):c.2918G>T (p.Gly973Val)
NM_000052.7(ATP7A):c.2919C>G (p.Gly973=) rs1557236690
NM_000052.7(ATP7A):c.2933T>A (p.Ile978Asn)
NM_000052.7(ATP7A):c.2936C>G (p.Ser979Cys)
NM_000052.7(ATP7A):c.2938C>A (p.Arg980=) rs72554649
NM_000052.7(ATP7A):c.2938C>G (p.Arg980Gly)
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter) rs72554649
NM_000052.7(ATP7A):c.293T>A (p.Leu98Ter)
NM_000052.7(ATP7A):c.2949G>A (p.Thr983=) rs782757659
NM_000052.7(ATP7A):c.2949G>C (p.Thr983=)
NM_000052.7(ATP7A):c.2949G>T (p.Thr983=) rs782757659
NM_000052.7(ATP7A):c.2953del (p.Ile985fs)
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter) rs72554650
NM_000052.7(ATP7A):c.2967C>T (p.Phe989=) rs2077967350
NM_000052.7(ATP7A):c.2977A>G (p.Ile993Val) rs1353488746
NM_000052.7(ATP7A):c.297A>C (p.Pro99=)
NM_000052.7(ATP7A):c.297A>G (p.Pro99=)
NM_000052.7(ATP7A):c.2984T>G (p.Val995Gly) rs2077967548
NM_000052.7(ATP7A):c.2986C>T (p.Leu996=)
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu) rs797045365
NM_000052.7(ATP7A):c.3007T>C (p.Ser1003Pro)
NM_000052.7(ATP7A):c.3009A>C (p.Ser1003=) rs2077967684
NM_000052.7(ATP7A):c.3012G>C (p.Leu1004=) rs2149104881
NM_000052.7(ATP7A):c.3013G>T (p.Gly1005Ter)
NM_000052.7(ATP7A):c.3021C>T (p.Ala1007=)
NM_000052.7(ATP7A):c.3027A>G (p.Pro1009=)
NM_000052.7(ATP7A):c.3028A>T (p.Thr1010Ser) rs782480109
NM_000052.7(ATP7A):c.3028_3030delinsGTG (p.Thr1010Val) rs1557236745
NM_000052.7(ATP7A):c.302A>G (p.Asp101Gly)
NM_000052.7(ATP7A):c.3036G>A (p.Val1012=) rs2149104907
NM_000052.7(ATP7A):c.3037_3038delinsGA (p.Met1013Glu) rs1557236747
NM_000052.7(ATP7A):c.3039G>A (p.Met1013Ile)
NM_000052.7(ATP7A):c.3042G>A (p.Val1014=)
NM_000052.7(ATP7A):c.3045T>C (p.Gly1015=) rs2149104924
NM_000052.7(ATP7A):c.3048A>T (p.Thr1016=) rs2149104926
NM_000052.7(ATP7A):c.3055G>A (p.Gly1019Ser) rs2077968146
NM_000052.7(ATP7A):c.305A>G (p.His102Arg) rs1253495703
NM_000052.7(ATP7A):c.3066T>A (p.Asn1022Lys)
NM_000052.7(ATP7A):c.3069C>A (p.Gly1023=)
NM_000052.7(ATP7A):c.3072A>G (p.Ile1024Met)
NM_000052.7(ATP7A):c.3072A>T (p.Ile1024=)
NM_000052.7(ATP7A):c.3077T>C (p.Ile1026Thr) rs2149104943
NM_000052.7(ATP7A):c.3081A>G (p.Lys1027=) rs2149104947
NM_000052.7(ATP7A):c.3081del (p.Gly1028fs)
NM_000052.7(ATP7A):c.308T>G (p.Ile103Ser)
NM_000052.7(ATP7A):c.3094T>G (p.Leu1032Val)
NM_000052.7(ATP7A):c.3102G>A (p.Met1034Ile)
NM_000052.7(ATP7A):c.3103G>A (p.Ala1035Thr) rs2077968562
NM_000052.7(ATP7A):c.3111+10T>C
NM_000052.7(ATP7A):c.3111+10T>G
NM_000052.7(ATP7A):c.3111+11C>A
NM_000052.7(ATP7A):c.3111+13C>G
NM_000052.7(ATP7A):c.3111+18A>T rs2149104971
NM_000052.7(ATP7A):c.3111+19C>T
NM_000052.7(ATP7A):c.3111+1G>A rs1557236762
NM_000052.7(ATP7A):c.3111+4A>C
NM_000052.7(ATP7A):c.3111+6A>G rs2077968712
NM_000052.7(ATP7A):c.3111+7C>T
NM_000052.7(ATP7A):c.3111+8A>G
NM_000052.7(ATP7A):c.3111G>T (p.Lys1037Asn)
NM_000052.7(ATP7A):c.3112-15_3112-14dup rs2077982901
NM_000052.7(ATP7A):c.3112-16C>G rs2149106076
NM_000052.7(ATP7A):c.3112-18A>G
NM_000052.7(ATP7A):c.3112-5T>C rs2149106085
NM_000052.7(ATP7A):c.3112-5dup rs1569550186
NM_000052.7(ATP7A):c.3116A>G (p.Lys1039Arg)
NM_000052.7(ATP7A):c.3117G>A (p.Lys1039=)
NM_000052.7(ATP7A):c.3118G>A (p.Val1040Ile)
NM_000052.7(ATP7A):c.3118G>T (p.Val1040Leu)
NM_000052.7(ATP7A):c.3119T>C (p.Val1040Ala) rs2077983152
NM_000052.7(ATP7A):c.311A>C (p.Gln104Pro)
NM_000052.7(ATP7A):c.3129T>C (p.Phe1043=)
NM_000052.7(ATP7A):c.3132T>C (p.Asp1044=) rs797045370
NM_000052.7(ATP7A):c.3141A>C (p.Gly1047=)
NM_000052.7(ATP7A):c.3153C>A (p.His1051Gln) rs142998552
NM_000052.7(ATP7A):c.3157A>G (p.Thr1053Ala)
NM_000052.7(ATP7A):c.3158C>A (p.Thr1053Asn)
NM_000052.7(ATP7A):c.3162A>G (p.Pro1054=)
NM_000052.7(ATP7A):c.3168G>A (p.Val1056=) rs371089220
NM_000052.7(ATP7A):c.3177A>C (p.Val1059=)
NM_000052.7(ATP7A):c.3179A>G (p.Lys1060Arg) rs2077983527
NM_000052.7(ATP7A):c.3184C>G (p.Leu1062Val)
NM_000052.7(ATP7A):c.3186A>G (p.Leu1062=) rs2149106139
NM_000052.7(ATP7A):c.319T>C (p.Leu107=) rs2149082638
NM_000052.7(ATP7A):c.319_320insACTGTCTCTTA (p.Leu107fs)
NM_000052.7(ATP7A):c.3201A>C (p.Arg1067Ser) rs2149106147
NM_000052.7(ATP7A):c.3209_3210del (p.His1070fs)
NM_000052.7(ATP7A):c.3212A>G (p.His1071Arg)
NM_000052.7(ATP7A):c.3226A>G (p.Ile1076Val)
NM_000052.7(ATP7A):c.3237T>G (p.Thr1079=) rs2149106153
NM_000052.7(ATP7A):c.3245G>A (p.Ser1082Asn) rs1603389390
NM_000052.7(ATP7A):c.3247A>G (p.Asn1083Asp)
NM_000052.7(ATP7A):c.3249C>T (p.Asn1083=)
NM_000052.7(ATP7A):c.3250dup (p.Ser1084fs) rs1603389393
NM_000052.7(ATP7A):c.3252T>C (p.Ser1084=) rs2149106168
NM_000052.7(ATP7A):c.3255A>G (p.Glu1085=) rs2149106169
NM_000052.7(ATP7A):c.3256C>T (p.His1086Tyr)
NM_000052.7(ATP7A):c.3258C>T (p.His1086=)
NM_000052.7(ATP7A):c.3264A>G (p.Leu1088=)
NM_000052.7(ATP7A):c.3269C>T (p.Thr1090Ile) rs2149106178
NM_000052.7(ATP7A):c.3271G>A (p.Ala1091Thr)
NM_000052.7(ATP7A):c.3278C>T (p.Thr1093Ile) rs996808810
NM_000052.7(ATP7A):c.3281A>T (p.Lys1094Ile)
NM_000052.7(ATP7A):c.3284A>G (p.Tyr1095Cys)
NM_000052.7(ATP7A):c.3286T>G (p.Cys1096Gly)
NM_000052.7(ATP7A):c.3288C>T (p.Cys1096=)
NM_000052.7(ATP7A):c.3289A>C (p.Lys1097Gln) rs1557237081
NM_000052.7(ATP7A):c.3289A>T (p.Lys1097Ter)
NM_000052.7(ATP7A):c.3290A>G (p.Lys1097Arg)
NM_000052.7(ATP7A):c.3293A>C (p.Gln1098Pro)
NM_000052.7(ATP7A):c.3293A>T (p.Gln1098Leu)
NM_000052.7(ATP7A):c.3294+12dup rs1223290704
NM_000052.7(ATP7A):c.3294+14C>T
NM_000052.7(ATP7A):c.3294+15dup
NM_000052.7(ATP7A):c.3294+16C>T
NM_000052.7(ATP7A):c.3294+1G>A rs797045374
NM_000052.7(ATP7A):c.3294+3A>G
NM_000052.7(ATP7A):c.3294+763C>G
NM_000052.7(ATP7A):c.3294+7T>G
NM_000052.7(ATP7A):c.3294+8T>G
NM_000052.7(ATP7A):c.3295-11_3295-10del
NM_000052.7(ATP7A):c.3295-14T>C
NM_000052.7(ATP7A):c.3295-16T>C
NM_000052.7(ATP7A):c.3295-5G>T rs2149107138
NM_000052.7(ATP7A):c.3295-6del rs1557237411
NM_000052.7(ATP7A):c.329C>T (p.Thr110Ile)
NM_000052.7(ATP7A):c.3302A>G (p.Asp1101Gly)
NM_000052.7(ATP7A):c.3313T>C (p.Leu1105=)
NM_000052.7(ATP7A):c.3326T>C (p.Ile1109Thr) rs2149107157
NM_000052.7(ATP7A):c.332A>C (p.Lys111Thr)
NM_000052.7(ATP7A):c.3333C>A (p.Phe1111Leu)
NM_000052.7(ATP7A):c.3337G>A (p.Val1113Ile) rs879254006
NM_000052.7(ATP7A):c.3337G>C (p.Val1113Leu)
NM_000052.7(ATP7A):c.3345A>G (p.Pro1115=)
NM_000052.7(ATP7A):c.3346G>A (p.Gly1116Ser) rs2149107164
NM_000052.7(ATP7A):c.334G>A (p.Gly112Ser)
NM_000052.7(ATP7A):c.3354T>A (p.Gly1118=)
NM_000052.7(ATP7A):c.3357T>A (p.Ile1119=) rs2149107179
NM_000052.7(ATP7A):c.3358A>C (p.Ser1120Arg)
NM_000052.7(ATP7A):c.3360C>T (p.Ser1120=)
NM_000052.7(ATP7A):c.3367G>A (p.Val1123Ile)
NM_000052.7(ATP7A):c.3367G>T (p.Val1123Phe) rs2077995918
NM_000052.7(ATP7A):c.3377T>C (p.Ile1126Thr)
NM_000052.7(ATP7A):c.3389T>C (p.Leu1130Pro)
NM_000052.7(ATP7A):c.338_339del (p.Val113fs)
NM_000052.7(ATP7A):c.3391C>T (p.His1131Tyr) rs2077996076
NM_000052.7(ATP7A):c.3397A>G (p.Asn1133Asp)
NM_000052.7(ATP7A):c.339G>A (p.Val113=)
NM_000052.7(ATP7A):c.3415G>A (p.Asp1139Asn) rs2149107203
NM_000052.7(ATP7A):c.3421A>C (p.Asn1141His) rs2149107206
NM_000052.7(ATP7A):c.3423T>A (p.Asn1141Lys)
NM_000052.7(ATP7A):c.3423T>C (p.Asn1141=)
NM_000052.7(ATP7A):c.3424A>G (p.Ile1142Val)
NM_000052.7(ATP7A):c.3425T>C (p.Ile1142Thr)
NM_000052.7(ATP7A):c.3434C>A (p.Ala1145Glu)
NM_000052.7(ATP7A):c.3435A>G (p.Ala1145=)
NM_000052.7(ATP7A):c.3461A>G (p.Asn1154Ser) rs1288867080
NM_000052.7(ATP7A):c.3462T>C (p.Asn1154=) rs2149107223
NM_000052.7(ATP7A):c.3465A>G (p.Glu1155=)
NM_000052.7(ATP7A):c.346A>G (p.Ile116Val)
NM_000052.7(ATP7A):c.3473C>A (p.Ser1158Ter) rs1557237451
NM_000052.7(ATP7A):c.3476C>T (p.Thr1159Ile) rs1557237452
NM_000052.7(ATP7A):c.3486C>T (p.Ser1162=)
NM_000052.7(ATP7A):c.3487A>G (p.Met1163Val)
NM_000052.7(ATP7A):c.3488T>A (p.Met1163Lys)
NM_000052.7(ATP7A):c.3489G>A (p.Met1163Ile)
NM_000052.7(ATP7A):c.348del (p.Ile118fs)
NM_000052.7(ATP7A):c.3493A>G (p.Ile1165Val)
NM_000052.7(ATP7A):c.3494T>C (p.Ile1165Thr)
NM_000052.7(ATP7A):c.3498T>A (p.Asp1166Glu)
NM_000052.7(ATP7A):c.3498T>C (p.Asp1166=) rs2077996988
NM_000052.7(ATP7A):c.3499_3500delinsA (p.Ala1167fs)
NM_000052.7(ATP7A):c.349A>T (p.Lys117Ter)
NM_000052.7(ATP7A):c.3501C>T (p.Ala1167=)
NM_000052.7(ATP7A):c.3505A>C (p.Ile1169Leu)
NM_000052.7(ATP7A):c.3507C>T (p.Ile1169=)
NM_000052.7(ATP7A):c.3511+5G>A
NM_000052.7(ATP7A):c.3511+8A>C rs2149107265
NM_000052.7(ATP7A):c.3511+9A>C
NM_000052.7(ATP7A):c.3511+9A>T rs2149107266
NM_000052.7(ATP7A):c.3512-14G>A
NM_000052.7(ATP7A):c.3512-16C>A
NM_000052.7(ATP7A):c.3512-16C>T
NM_000052.7(ATP7A):c.3512-6T>C rs2078029932
NM_000052.7(ATP7A):c.3512-7C>T
NM_000052.7(ATP7A):c.3512-8A>T
NM_000052.7(ATP7A):c.3514G>A (p.Ala1172Thr)
NM_000052.7(ATP7A):c.3515_3522delinsAAG (p.Ala1172fs)
NM_000052.7(ATP7A):c.3517C>T (p.Leu1173Phe)
NM_000052.7(ATP7A):c.3518T>C (p.Leu1173Pro)
NM_000052.7(ATP7A):c.3518_3519del (p.Leu1173fs)
NM_000052.7(ATP7A):c.3518_3526delTTAATGCTC (p.Leu1173_Ala1175del)
NM_000052.7(ATP7A):c.3521A>T (p.Asn1174Ile) rs876661235
NM_000052.7(ATP7A):c.3525T>C (p.Ala1175=)
NM_000052.7(ATP7A):c.3526C>T (p.Gln1176Ter) rs2078030304
NM_000052.7(ATP7A):c.3527A>T (p.Gln1176Leu)
NM_000052.7(ATP7A):c.352A>G (p.Ile118Val)
NM_000052.7(ATP7A):c.3531G>T (p.Gln1177His)
NM_000052.7(ATP7A):c.3537A>G (p.Lys1179=)
NM_000052.7(ATP7A):c.3545T>C (p.Ile1182Thr) rs782588862
NM_000052.7(ATP7A):c.3547G>A (p.Gly1183Ser)
NM_000052.7(ATP7A):c.3560G>A (p.Trp1187Ter) rs2149109587
NM_000052.7(ATP7A):c.357C>T (p.Tyr119=)
NM_000052.7(ATP7A):c.3582C>T (p.Val1194=)
NM_000052.7(ATP7A):c.358C>T (p.Pro120Ser)
NM_000052.7(ATP7A):c.3592G>T (p.Asp1198Tyr)
NM_000052.7(ATP7A):c.3602A>T (p.Asp1201Val)
NM_000052.7(ATP7A):c.3604T>G (p.Phe1202Val)
NM_000052.7(ATP7A):c.3605T>C (p.Phe1202Ser) rs2078030949
NM_000052.7(ATP7A):c.360T>A (p.Pro120=) rs1557231616
NM_000052.7(ATP7A):c.360T>G (p.Pro120=)
NM_000052.7(ATP7A):c.360_363delinsAA (p.Gln121fs)
NM_000052.7(ATP7A):c.3612_3613del (p.Glu1205fs)
NM_000052.7(ATP7A):c.3623G>A (p.Arg1208Lys)
NM_000052.7(ATP7A):c.3624A>G (p.Arg1208=)
NM_000052.7(ATP7A):c.3625A>G (p.Lys1209Glu)
NM_000052.7(ATP7A):c.3630T>C (p.Gly1210=)
NM_000052.7(ATP7A):c.3631C>T (p.Arg1211Trp)
NM_000052.7(ATP7A):c.3641T>C (p.Val1214Ala)
NM_000052.7(ATP7A):c.3652G>C (p.Val1218Leu)
NM_000052.7(ATP7A):c.3653T>C (p.Val1218Ala)
NM_000052.7(ATP7A):c.3658+12C>T
NM_000052.7(ATP7A):c.3658+17G>T
NM_000052.7(ATP7A):c.3658+19A>G
NM_000052.7(ATP7A):c.3658+4A>T
NM_000052.7(ATP7A):c.3659-15C>T
NM_000052.7(ATP7A):c.3659-7A>G
NM_000052.7(ATP7A):c.3659-9C>T
NM_000052.7(ATP7A):c.3666G>C (p.Leu1222=)
NM_000052.7(ATP7A):c.3667_3669delinsA (p.Cys1223fs)
NM_000052.7(ATP7A):c.3670G>A (p.Gly1224Ser)
NM_000052.7(ATP7A):c.3671G>A (p.Gly1224Asp)
NM_000052.7(ATP7A):c.3671G>T (p.Gly1224Val)
NM_000052.7(ATP7A):c.3681C>T (p.Ala1227=)
NM_000052.7(ATP7A):c.3685G>A (p.Ala1229Thr)
NM_000052.7(ATP7A):c.3689A>G (p.Asp1230Gly)
NM_000052.7(ATP7A):c.3690C>A (p.Asp1230Glu)
NM_000052.7(ATP7A):c.3692del (p.Thr1231fs)
NM_000052.7(ATP7A):c.3699G>A (p.Lys1233=) rs2149110480
NM_000052.7(ATP7A):c.3703G>A (p.Glu1235Lys) rs2149110482
NM_000052.7(ATP7A):c.3707C>G (p.Ala1236Gly)
NM_000052.7(ATP7A):c.3714G>A (p.Leu1238=)
NM_000052.7(ATP7A):c.3724A>G (p.Ile1242Val)
NM_000052.7(ATP7A):c.3724A>T (p.Ile1242Phe) rs1603390828
NM_000052.7(ATP7A):c.3727C>T (p.Leu1243=)
NM_000052.7(ATP7A):c.372T>C (p.Thr124=)
NM_000052.7(ATP7A):c.3731A>C (p.Lys1244Thr)
NM_000052.7(ATP7A):c.3737T>C (p.Met1246Thr)
NM_000052.7(ATP7A):c.373G>C (p.Val125Leu)
NM_000052.7(ATP7A):c.373G>T (p.Val125Leu) rs782688596
NM_000052.7(ATP7A):c.3753T>C (p.Val1251=)
NM_000052.7(ATP7A):c.3754C>T (p.Leu1252=) rs2149110492
NM_000052.7(ATP7A):c.3761C>A (p.Thr1254Asn)
NM_000052.7(ATP7A):c.3761C>T (p.Thr1254Ile)
NM_000052.7(ATP7A):c.377C>T (p.Ala126Val)
NM_000052.7(ATP7A):c.3781G>T (p.Ala1261Ser) rs2078041778
NM_000052.7(ATP7A):c.3786A>G (p.Arg1262=) rs1557238272
NM_000052.7(ATP7A):c.3788C>A (p.Ser1263Tyr)
NM_000052.7(ATP7A):c.3788C>G (p.Ser1263Cys) rs372066609
NM_000052.7(ATP7A):c.3791T>C (p.Ile1264Thr) rs2078042001
NM_000052.7(ATP7A):c.3793_3794del (p.Ala1265fs)
NM_000052.7(ATP7A):c.379G>A (p.Val127Met)
NM_000052.7(ATP7A):c.3801+10del
NM_000052.7(ATP7A):c.3801+11G>A
NM_000052.7(ATP7A):c.3801+13G>T
NM_000052.7(ATP7A):c.3801+17T>C
NM_000052.7(ATP7A):c.3801+20G>A
NM_000052.7(ATP7A):c.3802-12T>C
NM_000052.7(ATP7A):c.3802-15A>G
NM_000052.7(ATP7A):c.3802-6A>G rs2149111706
NM_000052.7(ATP7A):c.3802-6A>T rs2149111706
NM_000052.7(ATP7A):c.380_381del (p.Val127fs)
NM_000052.7(ATP7A):c.3810T>C (p.Ile1270=) rs2149111712
NM_000052.7(ATP7A):c.3811A>G (p.Thr1271Ala)
NM_000052.7(ATP7A):c.3812C>T (p.Thr1271Ile) rs932523090
NM_000052.7(ATP7A):c.3825T>C (p.Ala1275=)
NM_000052.7(ATP7A):c.3834A>G (p.Leu1278=) rs2149111740
NM_000052.7(ATP7A):c.3840T>C (p.Ser1280=)
NM_000052.7(ATP7A):c.3846G>A (p.Lys1282=)
NM_000052.7(ATP7A):c.3853A>T (p.Lys1285Ter)
NM_000052.7(ATP7A):c.385A>G (p.Ile129Val)
NM_000052.7(ATP7A):c.3861G>A (p.Lys1287=) rs1043267619
NM_000052.7(ATP7A):c.3864A>G (p.Gln1288=) rs2149111751
NM_000052.7(ATP7A):c.3867T>G (p.Leu1289=)
NM_000052.7(ATP7A):c.3868C>T (p.Gln1290Ter) rs1603391120
NM_000052.7(ATP7A):c.3871G>A (p.Glu1291Lys) rs999014839
NM_000052.7(ATP7A):c.3873G>A (p.Glu1291=)
NM_000052.7(ATP7A):c.3876G>A (p.Glu1292=)
NM_000052.7(ATP7A):c.3879G>A (p.Gly1293=)
NM_000052.7(ATP7A):c.3883C>A (p.Arg1295=) rs372489000
NM_000052.7(ATP7A):c.3888A>G (p.Val1296=)
NM_000052.7(ATP7A):c.3894G>T (p.Met1298Ile)
NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser) rs151340632
NM_000052.7(ATP7A):c.3917C>T (p.Ser1306Phe)
NM_000052.7(ATP7A):c.391C>T (p.Pro131Ser)
NM_000052.7(ATP7A):c.3927G>A (p.Leu1309=)
NM_000052.7(ATP7A):c.3928del (p.Ala1310fs)
NM_000052.7(ATP7A):c.3930A>G (p.Ala1310=)
NM_000052.7(ATP7A):c.3939T>C (p.Asn1313=) rs2149111823
NM_000052.7(ATP7A):c.393T>A (p.Pro131=)
NM_000052.7(ATP7A):c.3947T>G (p.Ile1316Ser)
NM_000052.7(ATP7A):c.3949G>C (p.Ala1317Pro)
NM_000052.7(ATP7A):c.3951T>A (p.Ala1317=)
NM_000052.7(ATP7A):c.3952A>G (p.Ile1318Val)
NM_000052.7(ATP7A):c.3954T>C (p.Ile1318=)
NM_000052.7(ATP7A):c.395C>A (p.Ser132Tyr)
NM_000052.7(ATP7A):c.3960A>G (p.Thr1320=)
NM_000052.7(ATP7A):c.3969T>A (p.Asp1323Glu)
NM_000052.7(ATP7A):c.3969T>C (p.Asp1323=) rs369114635
NM_000052.7(ATP7A):c.3970G>A (p.Val1324Ile) rs782692001
NM_000052.7(ATP7A):c.3984A>C (p.Ala1328=)
NM_000052.7(ATP7A):c.3989A>G (p.Asp1330Gly)
NM_000052.7(ATP7A):c.3993G>A (p.Val1331=)
NM_000052.7(ATP7A):c.399A>G (p.Ile133Met)
NM_000052.7(ATP7A):c.39T>C (p.Ser13=) rs986987107
NM_000052.7(ATP7A):c.4005+12G>A
NM_000052.7(ATP7A):c.4005+13G>T
NM_000052.7(ATP7A):c.4005+16T>A
NM_000052.7(ATP7A):c.4005+17G>C
NM_000052.7(ATP7A):c.4005+1G>T rs797045391
NM_000052.7(ATP7A):c.4005+5G>A
NM_000052.7(ATP7A):c.4006-10C>G
NM_000052.7(ATP7A):c.4006-13T>C
NM_000052.7(ATP7A):c.4006-1G>A rs1557238665
NM_000052.7(ATP7A):c.4006-4T>C
NM_000052.7(ATP7A):c.4006-7T>A
NM_000052.7(ATP7A):c.400G>A (p.Val134Met)
NM_000052.7(ATP7A):c.400G>T (p.Val134Leu) rs371441365
NM_000052.7(ATP7A):c.4011T>C (p.Asp1337=)
NM_000052.7(ATP7A):c.4015C>T (p.Leu1339=)
NM_000052.7(ATP7A):c.4017G>C (p.Leu1339=)
NM_000052.7(ATP7A):c.4020T>C (p.Asp1340=) rs2078061918
NM_000052.7(ATP7A):c.4021G>A (p.Val1341Ile)
NM_000052.7(ATP7A):c.4025T>C (p.Val1342Ala) rs2149112223
NM_000052.7(ATP7A):c.4027del (p.Ala1343fs) rs2078061940
NM_000052.7(ATP7A):c.402G>C (p.Val134=)
NM_000052.7(ATP7A):c.4038C>A (p.Asp1346Glu) rs375819425
NM_000052.7(ATP7A):c.4038C>T (p.Asp1346=) rs375819425
NM_000052.7(ATP7A):c.4040T>A (p.Leu1347Ter)
NM_000052.7(ATP7A):c.4043C>A (p.Ser1348Ter)
NM_000052.7(ATP7A):c.4046G>C (p.Arg1349Thr) rs2149112238
NM_000052.7(ATP7A):c.4048= (p.Lys1350=) rs4826245
NM_000052.7(ATP7A):c.4048A>G (p.Lys1350Glu)
NM_000052.7(ATP7A):c.4050G>T (p.Lys1350Asn)
NM_000052.7(ATP7A):c.4055T>A (p.Val1352Asp)
NM_000052.7(ATP7A):c.4056C>T (p.Val1352=)
NM_000052.7(ATP7A):c.4061G>A (p.Arg1354Lys) rs2078062220
NM_000052.7(ATP7A):c.4062G>A (p.Arg1354=) rs1603391261
NM_000052.7(ATP7A):c.4062G>C (p.Arg1354Ser) rs1603391261
NM_000052.7(ATP7A):c.4071A>C (p.Ile1357=) rs2078062354
NM_000052.7(ATP7A):c.4071A>G (p.Ile1357Met)
NM_000052.7(ATP7A):c.4074T>C (p.Asn1358=)
NM_000052.7(ATP7A):c.4089A>G (p.Leu1363=)
NM_000052.7(ATP7A):c.40G>T (p.Val14Phe)
NM_000052.7(ATP7A):c.4102G>A (p.Val1368Ile) rs782483019
NM_000052.7(ATP7A):c.410A>G (p.Asn137Ser) rs2149082684
NM_000052.7(ATP7A):c.4113C>T (p.Pro1371=)
NM_000052.7(ATP7A):c.4123+12T>A
NM_000052.7(ATP7A):c.4123+17T>C
NM_000052.7(ATP7A):c.4123+17T>G
NM_000052.7(ATP7A):c.4124-13A>G
NM_000052.7(ATP7A):c.4124-16C>T
NM_000052.7(ATP7A):c.4124-17C>A
NM_000052.7(ATP7A):c.4124-3T>C
NM_000052.7(ATP7A):c.412C>T (p.Gln138Ter)
NM_000052.7(ATP7A):c.4141G>A (p.Gly1381Ser)
NM_000052.7(ATP7A):c.4149T>A (p.Val1383=) rs2149113522
NM_000052.7(ATP7A):c.4153C>T (p.Gln1385Ter)
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser) rs267606672
NM_000052.7(ATP7A):c.4159T>G (p.Trp1387Gly)
NM_000052.7(ATP7A):c.4164G>A (p.Met1388Ile) rs2149113528
NM_000052.7(ATP7A):c.4166G>C (p.Gly1389Ala)
NM_000052.7(ATP7A):c.4167A>T (p.Gly1389=)
NM_000052.7(ATP7A):c.4176A>G (p.Ala1392=) rs2149113538
NM_000052.7(ATP7A):c.4182T>A (p.Ala1394=) rs2149113545
NM_000052.7(ATP7A):c.4188A>G (p.Ser1396=)
NM_000052.7(ATP7A):c.4205T>G (p.Leu1402Arg)
NM_000052.7(ATP7A):c.420_423delinsCTGTCTCTTATACACAT (p.Lys140fs)
NM_000052.7(ATP7A):c.4210T>G (p.Ser1404Ala) rs2149113564
NM_000052.7(ATP7A):c.4219C>G (p.Leu1407Val)
NM_000052.7(ATP7A):c.4223A>G (p.Lys1408Arg)
NM_000052.7(ATP7A):c.4225C>A (p.Leu1409Ile) rs2149113574
NM_000052.7(ATP7A):c.4226+12A>G
NM_000052.7(ATP7A):c.4226+18C>A
NM_000052.7(ATP7A):c.4226+20C>T
NM_000052.7(ATP7A):c.4226+6T>G
NM_000052.7(ATP7A):c.4226+7A>G
NM_000052.7(ATP7A):c.4226+9G>A rs1557239012
NM_000052.7(ATP7A):c.4226T>C (p.Leu1409Pro)
NM_000052.7(ATP7A):c.4227-10A>G
NM_000052.7(ATP7A):c.4227-11C>T rs2149113924
NM_000052.7(ATP7A):c.4227-12G>C
NM_000052.7(ATP7A):c.4227-13T>G
NM_000052.7(ATP7A):c.4227-16T>C
NM_000052.7(ATP7A):c.4227-17C>T
NM_000052.7(ATP7A):c.4227-18del
NM_000052.7(ATP7A):c.422_423del (p.Glu141fs) rs797045397
NM_000052.7(ATP7A):c.4232G>A (p.Arg1411Lys)
NM_000052.7(ATP7A):c.4238C>T (p.Pro1413Leu)
NM_000052.7(ATP7A):c.4240A>C (p.Thr1414Pro)
NM_000052.7(ATP7A):c.4241C>T (p.Thr1414Ile)
NM_000052.7(ATP7A):c.4247A>G (p.Glu1416Gly) rs2149113944
NM_000052.7(ATP7A):c.4255G>A (p.Glu1419Lys)
NM_000052.7(ATP7A):c.4263T>C (p.Pro1421=) rs2078083306
NM_000052.7(ATP7A):c.4263del (p.Ala1422fs)
NM_000052.7(ATP7A):c.4264G>T (p.Ala1422Ser)
NM_000052.7(ATP7A):c.4266C>T (p.Ala1422=) rs2149113967
NM_000052.7(ATP7A):c.4267C>A (p.Arg1423=) rs149079962
NM_000052.7(ATP7A):c.4267C>G (p.Arg1423Gly) rs149079962
NM_000052.7(ATP7A):c.4267C>T (p.Arg1423Trp) rs149079962
NM_000052.7(ATP7A):c.4270A>G (p.Ser1424Gly) rs2149113979
NM_000052.7(ATP7A):c.4272C>T (p.Ser1424=) rs2149113981
NM_000052.7(ATP7A):c.4277T>C (p.Ile1426Thr)
NM_000052.7(ATP7A):c.4286A>G (p.Lys1429Arg)
NM_000052.7(ATP7A):c.4288A>G (p.Ser1430Gly) rs2149113992
NM_000052.7(ATP7A):c.4289G>A (p.Ser1430Asn)
NM_000052.7(ATP7A):c.429T>G (p.Val143=) rs2149082691
NM_000052.7(ATP7A):c.4300A>C (p.Ile1434Leu) rs2149113995
NM_000052.7(ATP7A):c.4308T>C (p.Val1436=) rs2149114009
NM_000052.7(ATP7A):c.4316G>C (p.Gly1439Ala)
NM_000052.7(ATP7A):c.4319T>C (p.Ile1440Thr)
NM_000052.7(ATP7A):c.4319T>G (p.Ile1440Arg)
NM_000052.7(ATP7A):c.4330T>A (p.Ser1444Thr)
NM_000052.7(ATP7A):c.4332A>G (p.Ser1444=) rs2149114035
NM_000052.7(ATP7A):c.4348C>T (p.Leu1450=) rs2149114038
NM_000052.7(ATP7A):c.4350G>T (p.Leu1450=) rs2149114044
NM_000052.7(ATP7A):c.4352del (p.Gly1451fs) rs1569550376
NM_000052.7(ATP7A):c.4356G>T (p.Leu1452Phe)
NM_000052.7(ATP7A):c.4364G>T (p.Arg1455Leu) rs147848649
NM_000052.7(ATP7A):c.4401A>G (p.Leu1467=)
NM_000052.7(ATP7A):c.4420C>T (p.Leu1474=)
NM_000052.7(ATP7A):c.4436C>A (p.Thr1479Asn)
NM_000052.7(ATP7A):c.4439G>A (p.Ser1480Asn)
NM_000052.7(ATP7A):c.4440T>C (p.Ser1480=)
NM_000052.7(ATP7A):c.4445C>G (p.Pro1482Arg) rs1557239147
NM_000052.7(ATP7A):c.4447G>T (p.Asp1483Tyr) rs2149114118
NM_000052.7(ATP7A):c.444A>G (p.Leu148=)
NM_000052.7(ATP7A):c.4465G>A (p.Val1489Met)
NM_000052.7(ATP7A):c.4466T>C (p.Val1489Ala)
NM_000052.7(ATP7A):c.4467G>C (p.Val1489=) rs1603391708
NM_000052.7(ATP7A):c.4469dup (p.Asp1491fs) rs2078084722
NM_000052.7(ATP7A):c.4470A>T (p.Gly1490=)
NM_000052.7(ATP7A):c.4476C>G (p.Phe1492Leu) rs2149114133
NM_000052.7(ATP7A):c.4480G>A (p.Glu1494Lys)
NM_000052.7(ATP7A):c.4489G>A (p.Asp1497Asn)
NM_000052.7(ATP7A):c.4490A>G (p.Asp1497Gly) rs1557239152
NM_000052.7(ATP7A):c.453G>T (p.Gly151=)
NM_000052.7(ATP7A):c.453del (p.Thr152fs) rs1603381331
NM_000052.7(ATP7A):c.459G>A (p.Leu153=)
NM_000052.7(ATP7A):c.45G>C (p.Glu15Asp)
NM_000052.7(ATP7A):c.462dup (p.Lys155fs) rs2077652014
NM_000052.7(ATP7A):c.466_467insC (p.Lys156fs)
NM_000052.7(ATP7A):c.467A>T (p.Lys156Met) rs2149082707
NM_000052.7(ATP7A):c.469_470del (p.Ser157fs)
NM_000052.7(ATP7A):c.46G>T (p.Gly16Cys)
NM_000052.7(ATP7A):c.479G>C (p.Cys160Ser)
NM_000052.7(ATP7A):c.484G>T (p.Asp162Tyr)
NM_000052.7(ATP7A):c.489T>C (p.His163=)
NM_000052.7(ATP7A):c.48T>G (p.Gly16=) rs2149073819
NM_000052.7(ATP7A):c.490A>T (p.Ser164Cys)
NM_000052.7(ATP7A):c.499C>T (p.Gln167Ter)
NM_000052.7(ATP7A):c.504T>C (p.Ala168=)
NM_000052.7(ATP7A):c.520A>T (p.Lys174Ter)
NM_000052.7(ATP7A):c.523A>G (p.Met175Val)
NM_000052.7(ATP7A):c.524T>C (p.Met175Thr)
NM_000052.7(ATP7A):c.526A>T (p.Lys176Ter)
NM_000052.7(ATP7A):c.528A>G (p.Lys176=) rs2149082749
NM_000052.7(ATP7A):c.52A>C (p.Thr18Pro)
NM_000052.7(ATP7A):c.52A>G (p.Thr18Ala)
NM_000052.7(ATP7A):c.534A>G (p.Glu178=) rs2077652554
NM_000052.7(ATP7A):c.537G>A (p.Gly179=)
NM_000052.7(ATP7A):c.543C>T (p.Thr181=)
NM_000052.7(ATP7A):c.552A>G (p.Ser184=) rs1557231655
NM_000052.7(ATP7A):c.552A>T (p.Ser184=)
NM_000052.7(ATP7A):c.555T>C (p.Cys185=)
NM_000052.7(ATP7A):c.556A>G (p.Thr186Ala) rs1557231656
NM_000052.7(ATP7A):c.557C>T (p.Thr186Ile)
NM_000052.7(ATP7A):c.558T>G (p.Thr186=)
NM_000052.7(ATP7A):c.561C>T (p.Ser187=)
NM_000052.7(ATP7A):c.56G>A (p.Cys19Tyr)
NM_000052.7(ATP7A):c.57C>T (p.Cys19=) rs145406974
NM_000052.7(ATP7A):c.597T>C (p.Val199=)
NM_000052.7(ATP7A):c.598C>G (p.Gln200Glu)
NM_000052.7(ATP7A):c.599A>G (p.Gln200Arg)
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter) rs151340633
NM_000052.7(ATP7A):c.602G>A (p.Arg201Gln) rs897502448
NM_000052.7(ATP7A):c.610+10C>T
NM_000052.7(ATP7A):c.610+13G>A
NM_000052.7(ATP7A):c.610+15G>T
NM_000052.7(ATP7A):c.610+18G>T
NM_000052.7(ATP7A):c.610+19A>C
NM_000052.7(ATP7A):c.610+20T>C
NM_000052.7(ATP7A):c.610+2T>C
NM_000052.7(ATP7A):c.610+5T>C
NM_000052.7(ATP7A):c.611-10T>C rs2149083014
NM_000052.7(ATP7A):c.611-16del
NM_000052.7(ATP7A):c.611-20T>C
NM_000052.7(ATP7A):c.611-21_611-17del rs1350377636
NM_000052.7(ATP7A):c.611-5A>G rs1557231730
NM_000052.7(ATP7A):c.611-6A>G
NM_000052.7(ATP7A):c.612C>T (p.Val204=) rs2077655830
NM_000052.7(ATP7A):c.615C>T (p.Ser205=)
NM_000052.7(ATP7A):c.616C>T (p.Leu206=)
NM_000052.7(ATP7A):c.617T>G (p.Leu206Arg) rs2149083027
NM_000052.7(ATP7A):c.61T>C (p.Ser21Pro)
NM_000052.7(ATP7A):c.641T>C (p.Val214Ala)
NM_000052.7(ATP7A):c.656T>G (p.Leu219Arg)
NM_000052.7(ATP7A):c.657T>G (p.Leu219=)
NM_000052.7(ATP7A):c.657_661del (p.Ile220fs)
NM_000052.7(ATP7A):c.659T>C (p.Ile220Thr) rs2149083046
NM_000052.7(ATP7A):c.65G>A (p.Cys22Tyr) rs2077548143
NM_000052.7(ATP7A):c.674T>A (p.Met225Lys)
NM_000052.7(ATP7A):c.675G>A (p.Met225Ile)
NM_000052.7(ATP7A):c.678A>G (p.Lys226=)
NM_000052.7(ATP7A):c.67G>A (p.Val23Ile)
NM_000052.7(ATP7A):c.686T>C (p.Ile229Thr) rs1557231750
NM_000052.7(ATP7A):c.687T>C (p.Ile229=)
NM_000052.7(ATP7A):c.690A>C (p.Glu230Asp)
NM_000052.7(ATP7A):c.695T>C (p.Met232Thr) rs2149083058
NM_000052.7(ATP7A):c.69T>G (p.Val23=)
NM_000052.7(ATP7A):c.702T>G (p.Phe234Leu)
NM_000052.7(ATP7A):c.706_707insTC (p.Ala236fs)
NM_000052.7(ATP7A):c.707C>T (p.Ala236Val)
NM_000052.7(ATP7A):c.714C>A (p.Val238=) rs2149083069
NM_000052.7(ATP7A):c.717A>C (p.Lys239Asn)
NM_000052.7(ATP7A):c.721C>G (p.Gln241Glu)
NM_000052.7(ATP7A):c.725C>G (p.Pro242Arg)
NM_000052.7(ATP7A):c.729G>T (p.Lys243Asn) rs782326318
NM_000052.7(ATP7A):c.737A>C (p.Lys246Thr) rs184646064
NM_000052.7(ATP7A):c.737A>T (p.Lys246Ile)
NM_000052.7(ATP7A):c.740T>C (p.Leu247Ser)
NM_000052.7(ATP7A):c.748A>C (p.Ile250Leu)
NM_000052.7(ATP7A):c.751G>A (p.Asp251Asn)
NM_000052.7(ATP7A):c.753T>C (p.Asp251=) rs2149083096
NM_000052.7(ATP7A):c.753_755delinsA (p.Asp251fs)
NM_000052.7(ATP7A):c.754G>A (p.Val252Ile)
NM_000052.7(ATP7A):c.756A>G (p.Val252=)
NM_000052.7(ATP7A):c.761G>A (p.Arg254His)
NM_000052.7(ATP7A):c.774A>G (p.Thr258=)
NM_000052.7(ATP7A):c.776del (p.Pro259fs)
NM_000052.7(ATP7A):c.778G>A (p.Val260Ile)
NM_000052.7(ATP7A):c.783A>G (p.Lys261=)
NM_000052.7(ATP7A):c.789A>G (p.Ser263=)
NM_000052.7(ATP7A):c.796T>A (p.Ser266Thr) rs2077656822
NM_000052.7(ATP7A):c.798A>G (p.Ser266=)
NM_000052.7(ATP7A):c.800A>G (p.Gln267Arg)
NM_000052.7(ATP7A):c.801G>A (p.Gln267=)
NM_000052.7(ATP7A):c.802C>T (p.Gln268Ter) rs2149083118
NM_000052.7(ATP7A):c.807G>T (p.Arg269Ser) rs868946047
NM_000052.7(ATP7A):c.816A>G (p.Ser272=) rs2149083124
NM_000052.7(ATP7A):c.81G>A (p.Glu27=) rs2149073851
NM_000052.7(ATP7A):c.822C>T (p.Thr274=) rs2149083127
NM_000052.7(ATP7A):c.824A>T (p.Asn275Ile)
NM_000052.7(ATP7A):c.828T>C (p.Asp276=) rs2077656976
NM_000052.7(ATP7A):c.831A>T (p.Ser277=) rs2149083138
NM_000052.7(ATP7A):c.833C>G (p.Thr278Arg)
NM_000052.7(ATP7A):c.833C>T (p.Thr278Ile)
NM_000052.7(ATP7A):c.836C>A (p.Ala279Asp)
NM_000052.7(ATP7A):c.837C>T (p.Ala279=)
NM_000052.7(ATP7A):c.843C>T (p.Phe281=)
NM_000052.7(ATP7A):c.849T>A (p.Ile283=)
NM_000052.7(ATP7A):c.84G>A (p.Gln28=) rs1603378828
NM_000052.7(ATP7A):c.850G>A (p.Asp284Asn)
NM_000052.7(ATP7A):c.854G>A (p.Gly285Asp)
NM_000052.7(ATP7A):c.860A>G (p.His287Arg)
NM_000052.7(ATP7A):c.868T>C (p.Ser290Pro)
NM_000052.7(ATP7A):c.870A>C (p.Ser290=)
NM_000052.7(ATP7A):c.870_871del (p.Ser293fs)
NM_000052.7(ATP7A):c.885T>C (p.Ile295=)
NM_000052.7(ATP7A):c.897del (p.Leu299fs)
NM_000052.7(ATP7A):c.898T>C (p.Ser300Pro)
NM_000052.7(ATP7A):c.899C>G (p.Ser300Cys)
NM_000052.7(ATP7A):c.8C>G (p.Pro3Arg)
NM_000052.7(ATP7A):c.903A>C (p.Ala301=) rs1557231803
NM_000052.7(ATP7A):c.905T>C (p.Leu302Pro)
NM_000052.7(ATP7A):c.906C>T (p.Leu302=)
NM_000052.7(ATP7A):c.90T>G (p.Ile30Met) rs2149073867
NM_000052.7(ATP7A):c.916A>G (p.Ser306Gly)
NM_000052.7(ATP7A):c.924A>G (p.Ile308Met)
NM_000052.7(ATP7A):c.927A>G (p.Val309=) rs2149083187
NM_000052.7(ATP7A):c.92G>A (p.Gly31Glu) rs1569549378
NM_000052.7(ATP7A):c.939G>A (p.Glu313=)
NM_000052.7(ATP7A):c.941A>G (p.Asn314Ser) rs1064797375
NM_000052.7(ATP7A):c.942T>C (p.Asn314=) rs2149083195
NM_000052.7(ATP7A):c.945G>A (p.Arg315=) rs2149083198
NM_000052.7(ATP7A):c.945G>T (p.Arg315Ser) rs2149083198
NM_000052.7(ATP7A):c.94A>C (p.Lys32Gln) rs2077548318
NM_000052.7(ATP7A):c.954_955delinsAT (p.Val319Leu)
NM_000052.7(ATP7A):c.964A>G (p.Asn322Asp)
NM_000052.7(ATP7A):c.971G>C (p.Ser324Thr) rs2149083223
NM_000052.7(ATP7A):c.973_974del (p.Val326fs)
NM_000052.7(ATP7A):c.978C>T (p.Val326=)
NM_000052.7(ATP7A):c.97G>C (p.Val33Leu) rs2077548355
NM_000093.5(COL5A1):c.2903del (p.Pro968fs) rs1057518871
NM_000158.4(GBE1):c.1459G>T (p.Asp487Tyr) rs2106933976
NM_000501.3(ELN):c.-70G>C rs537200597
NM_000501.4(ELN):c.*102C>T rs1464325009
NM_000501.4(ELN):c.*1062dup rs574934142
NM_000501.4(ELN):c.*1145dup rs886062436
NM_000501.4(ELN):c.*171C>T rs781941957
NM_000501.4(ELN):c.*264C>A rs1309771565
NM_000501.4(ELN):c.*358C>T rs1489252176
NM_000501.4(ELN):c.*458C>T rs886062431
NM_000501.4(ELN):c.*578T>C rs1798608245
NM_000501.4(ELN):c.*636G>A rs533779578
NM_000501.4(ELN):c.*659G>C rs8326
NM_000501.4(ELN):c.1096+12TG[16] rs10579871
NM_000501.4(ELN):c.1096+12TG[18] rs10579871
NM_000501.4(ELN):c.1096+12TG[20] rs10579871
NM_000501.4(ELN):c.1096+12TG[21] rs10579871
NM_000501.4(ELN):c.1096+12TG[22] rs10579871
NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter) rs199621188
NM_000501.4(ELN):c.1232T>C (p.Val411Ala)
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser) rs2071307
NM_000501.4(ELN):c.1269C>G (p.Val423=) rs61734583
NM_000501.4(ELN):c.1269C>T (p.Val423=) rs61734583
NM_000501.4(ELN):c.1325A>T (p.Gln442Leu)
NM_000501.4(ELN):c.1453_1488del (p.479VAPGVG[1]) rs782202364
NM_000501.4(ELN):c.1484T>G (p.Val495Gly)
NM_000501.4(ELN):c.1591_1592delinsTT (p.Ala531Phe) rs863223529
NM_000501.4(ELN):c.1621C>T (p.Arg541Ter) rs137854453
NM_000501.4(ELN):c.166del (p.Leu56fs) rs2131266202
NM_000501.4(ELN):c.1672G>A (p.Gly558Ser)
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg) rs17855988
NM_000501.4(ELN):c.1819G>C (p.Gly607Arg) rs781963804
NM_000501.4(ELN):c.1941C>A (p.Leu647=) rs782117709
NM_000501.4(ELN):c.1946del (p.Gly649fs) rs1797225811
NM_000501.4(ELN):c.1973del (p.Pro658fs)
NM_000501.4(ELN):c.2058del (p.Gly688fs) rs886039351
NM_000501.4(ELN):c.2151del (p.Ala718fs) rs2132828209
NM_000501.4(ELN):c.2161del (p.Arg721fs) rs794729201
NM_000501.4(ELN):c.328G>A (p.Ala110Thr) rs137953195
NM_000501.4(ELN):c.359G>T (p.Gly120Val) rs1554669689
NM_000501.4(ELN):c.376+2T>C
NM_000501.4(ELN):c.416G>A (p.Gly139Glu)
NM_000501.4(ELN):c.483C>A (p.Pro161=) rs150690195
NM_000501.4(ELN):c.590G>A (p.Gly197Glu) rs782698807
NM_000501.4(ELN):c.649T>C (p.Tyr217His)
NM_000501.4(ELN):c.717G>T (p.Ala239=) rs782502253
NM_000501.4(ELN):c.800-1G>A rs2131847938
NM_001039348.3(EFEMP1):c.1201C>T (p.Arg401Ter) rs2104369155
NM_001039348.3(EFEMP1):c.163T>C (p.Cys55Arg) rs1572851186
NM_001039348.3(EFEMP1):c.320_324del (p.Met107fs) rs1572850869
NM_001039348.3(EFEMP1):c.615T>A (p.Tyr205Ter) rs765517862
NM_001042544.1:c.3885_3893del
NM_001042545.2(LTBP4):c.*125C>T rs569370832
NM_001042545.2(LTBP4):c.*126G>T rs567854760
NM_001042545.2(LTBP4):c.*185_*187del rs558641472
NM_001042545.2(LTBP4):c.*259C>G rs868829972
NM_001042545.2(LTBP4):c.*42G>A rs2081663869
NM_001042545.2(LTBP4):c.*59C>T rs1362204630
NM_001042545.2(LTBP4):c.*86C>T rs10424186
NM_001042545.2(LTBP4):c.*97G>T rs1242020458
NM_001042545.2(LTBP4):c.1045G>C (p.Gly349Arg)
NM_001042545.2(LTBP4):c.113del (p.Pro38fs)
NM_001042545.2(LTBP4):c.1183G>T (p.Gly395Cys)
NM_001042545.2(LTBP4):c.1307-2A>G rs970983655
NM_001042545.2(LTBP4):c.1360del (p.Arg454fs) rs1307726290
NM_001042545.2(LTBP4):c.1426+1G>T
NM_001042545.2(LTBP4):c.1549C>A (p.Arg517=) rs770158909
NM_001042545.2(LTBP4):c.1611G>C (p.Glu537Asp)
NM_001042545.2(LTBP4):c.1636G>A (p.Val546Met) rs886054446
NM_001042545.2(LTBP4):c.1828C>T (p.Gln610Ter) rs1568406407
NM_001042545.2(LTBP4):c.2029C>T (p.Arg677Ter) rs2146029786
NM_001042545.2(LTBP4):c.2160T>C (p.Thr720=) rs578204135
NM_001042545.2(LTBP4):c.2180-3C>A rs560687578
NM_001042545.2(LTBP4):c.2399G>A (p.Arg800Gln)
NM_001042545.2(LTBP4):c.2419G>C (p.Gly807Arg) rs559350666
NM_001042545.2(LTBP4):c.2481C>A (p.Cys827Ter) rs267607228
NM_001042545.2(LTBP4):c.2565C>T (p.Asp855=) rs2077407
NM_001042545.2(LTBP4):c.2835T>C (p.Tyr945=) rs762043638
NM_001042545.2(LTBP4):c.283G>A (p.Val95Met)
NM_001042545.2(LTBP4):c.289G>A (p.Val97Met)
NM_001042545.2(LTBP4):c.289G>C (p.Val97Leu) rs544671195
NM_001042545.2(LTBP4):c.3035dup (p.Tyr1013fs) rs59030801
NM_001042545.2(LTBP4):c.3298C>T (p.Arg1100Ter)
NM_001042545.2(LTBP4):c.3329G>A (p.Gly1110Glu) rs886054448
NM_001042545.2(LTBP4):c.3464del (p.Gln1155fs) rs606231159
NM_001042545.2(LTBP4):c.3850dup (p.Cys1284fs) rs1599879104
NM_001042545.2(LTBP4):c.4022C>G (p.Pro1341Arg) rs886054449
NM_001042545.2(LTBP4):c.4025dup (p.Tyr1343fs) rs797044471
NM_001042545.2(LTBP4):c.4033C>G (p.Pro1345Ala) rs886054450
NM_001042545.2(LTBP4):c.4037dup (p.Arg1347fs) rs606231161
NM_001042545.2(LTBP4):c.4039C>T (p.Arg1347Ter) rs1382026467
NM_001042545.2(LTBP4):c.4169G>A (p.Gly1390Glu) rs886054451
NM_001042545.2(LTBP4):c.4628C>T (p.Pro1543Leu)
NM_001042545.2(LTBP4):c.534G>A (p.Glu178=) rs2081452931
NM_001042545.2(LTBP4):c.564G>A (p.Ala188=) rs759941927
NM_001042545.2(LTBP4):c.565del (p.Glu189fs) rs2146020978
NM_001042545.2(LTBP4):c.5C>T (p.Ala2Val)
NM_001042545.2(LTBP4):c.608T>A (p.Leu203Ter)
NM_001042545.2(LTBP4):c.637T>C (p.Tyr213His)
NM_001042545.2(LTBP4):c.688G>T (p.Glu230Ter)
NM_001042545.2(LTBP4):c.701del (p.Pro234fs) rs606231160
NM_001042545.2(LTBP4):c.730T>G (p.Cys244Gly) rs267607229
NM_001042545.2(LTBP4):c.770G>A (p.Cys257Tyr) rs2146021507
NM_001042545.2(LTBP4):c.832C>G (p.Pro278Ala) rs2081460773
NM_001042545.2(LTBP4):c.999dup (p.Val334fs)
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) rs140574574
NM_001271893.4(TWIST2):c.223G>C (p.Glu75Gln) rs1553565140
NM_001271893.4(TWIST2):c.224A>C (p.Glu75Ala) rs1553565143
NM_001271893.4(TWIST2):c.229_234dup (p.Gln77_Arg78dup) rs869320750
NM_001690.4(ATP6V1A):c.1012C>T (p.Arg338Cys) rs1060505036
NM_001690.4(ATP6V1A):c.1227-6A>G rs1709148623
NM_001690.4(ATP6V1A):c.1291-7dup rs538710134
NM_001690.4(ATP6V1A):c.1531G>C (p.Val511Leu) rs1709239976
NM_001690.4(ATP6V1A):c.215G>A (p.Gly72Asp) rs1060505037
NM_001690.4(ATP6V1A):c.299A>T (p.Asp100Val)
NM_001690.4(ATP6V1A):c.841G>A (p.Gly281Arg)
NM_001696.4(ATP6V1E1):c.383T>C (p.Leu128Pro) rs1060505031
NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp) rs1028534806
NM_001696.4(ATP6V1E1):c.664A>T (p.Arg222Trp)
NM_002317.7(LOX):c.1021A>C (p.Thr341Pro) rs1436353084
NM_002860.4(ALDH18A1):c.*202T>C rs886047509
NM_002860.4(ALDH18A1):c.*466T>G rs886047508
NM_002860.4(ALDH18A1):c.*644A>G rs1052895099
NM_002860.4(ALDH18A1):c.*803del rs775267777
NM_002860.4(ALDH18A1):c.-120A>G rs181772739
NM_002860.4(ALDH18A1):c.-67C>T rs886047514
NM_002860.4(ALDH18A1):c.-69CG[4] rs200542959
NM_002860.4(ALDH18A1):c.1001A>G (p.Lys334Arg)
NM_002860.4(ALDH18A1):c.1005G>A (p.Val335=)
NM_002860.4(ALDH18A1):c.100C>G (p.Pro34Ala)
NM_002860.4(ALDH18A1):c.1015G>A (p.Val339Ile) rs1346763871
NM_002860.4(ALDH18A1):c.1032_1033delinsTC (p.Glu345Gln)
NM_002860.4(ALDH18A1):c.1042A>G (p.Lys348Glu)
NM_002860.4(ALDH18A1):c.1046T>G (p.Val349Gly)
NM_002860.4(ALDH18A1):c.1047T>G (p.Val349=)
NM_002860.4(ALDH18A1):c.1048G>T (p.Gly350Cys)
NM_002860.4(ALDH18A1):c.1050T>C (p.Gly350=)
NM_002860.4(ALDH18A1):c.1053C>G (p.Thr351=)
NM_002860.4(ALDH18A1):c.1071G>A (p.Lys357=)
NM_002860.4(ALDH18A1):c.1072C>A (p.Pro358Thr)
NM_002860.4(ALDH18A1):c.1073C>T (p.Pro358Leu) rs868590536
NM_002860.4(ALDH18A1):c.1076C>T (p.Ala359Val) rs933310637
NM_002860.4(ALDH18A1):c.1078+12_1078+14del
NM_002860.4(ALDH18A1):c.1078+15A>G
NM_002860.4(ALDH18A1):c.1078+20G>A
NM_002860.4(ALDH18A1):c.1078+4A>G rs1566018543
NM_002860.4(ALDH18A1):c.1078+5A>G rs2139591190
NM_002860.4(ALDH18A1):c.1078+6T>C rs919353563
NM_002860.4(ALDH18A1):c.1079-11T>C
NM_002860.4(ALDH18A1):c.1079-16G>T
NM_002860.4(ALDH18A1):c.1079-8T>G
NM_002860.4(ALDH18A1):c.1104A>G (p.Glu368=)
NM_002860.4(ALDH18A1):c.1106T>C (p.Met369Thr)
NM_002860.4(ALDH18A1):c.1112G>C (p.Arg371Pro)
NM_002860.4(ALDH18A1):c.1112G>T (p.Arg371Leu)
NM_002860.4(ALDH18A1):c.111C>G (p.Ile37Met)
NM_002860.4(ALDH18A1):c.1126A>T (p.Met376Leu)
NM_002860.4(ALDH18A1):c.1137C>G (p.Thr379=)
NM_002860.4(ALDH18A1):c.1144C>T (p.Pro382Ser)
NM_002860.4(ALDH18A1):c.1147G>C (p.Glu383Gln)
NM_002860.4(ALDH18A1):c.1150C>G (p.Gln384Glu)
NM_002860.4(ALDH18A1):c.1151A>G (p.Gln384Arg)
NM_002860.4(ALDH18A1):c.1152+12A>C
NM_002860.4(ALDH18A1):c.1152+1G>A
NM_002860.4(ALDH18A1):c.1152+4A>G
NM_002860.4(ALDH18A1):c.1152+6A>C
NM_002860.4(ALDH18A1):c.1153-11C>G
NM_002860.4(ALDH18A1):c.1153-6T>C
NM_002860.4(ALDH18A1):c.1153-8_1153-5del
NM_002860.4(ALDH18A1):c.1169A>G (p.His390Arg) rs2097858992
NM_002860.4(ALDH18A1):c.1172A>T (p.His391Leu) rs774081826
NM_002860.4(ALDH18A1):c.1177G>A (p.Ala393Thr)
NM_002860.4(ALDH18A1):c.117T>C (p.His39=)
NM_002860.4(ALDH18A1):c.1180G>A (p.Asp394Asn)
NM_002860.4(ALDH18A1):c.1191G>A (p.Thr397=)
NM_002860.4(ALDH18A1):c.1199G>A (p.Arg400His) rs1283928441
NM_002860.4(ALDH18A1):c.11A>G (p.Gln4Arg)
NM_002860.4(ALDH18A1):c.121C>G (p.Arg41Gly) rs370450551
NM_002860.4(ALDH18A1):c.121C>T (p.Arg41Cys)
NM_002860.4(ALDH18A1):c.1227dup (p.Asp410fs)
NM_002860.4(ALDH18A1):c.1233G>A (p.Leu411=)
NM_002860.4(ALDH18A1):c.1236G>C (p.Glu412Asp)
NM_002860.4(ALDH18A1):c.1246+15A>G
NM_002860.4(ALDH18A1):c.1247-12A>G
NM_002860.4(ALDH18A1):c.1247-16C>G
NM_002860.4(ALDH18A1):c.1247-17T>A rs1208309079
NM_002860.4(ALDH18A1):c.1253T>C (p.Leu418Pro) rs201069261
NM_002860.4(ALDH18A1):c.1254T>C (p.Leu418=)
NM_002860.4(ALDH18A1):c.1267C>A (p.Leu423Met)
NM_002860.4(ALDH18A1):c.1275T>C (p.Arg425=)
NM_002860.4(ALDH18A1):c.1280G>A (p.Ser427Asn)
NM_002860.4(ALDH18A1):c.1290A>C (p.Thr430=)
NM_002860.4(ALDH18A1):c.1292C>A (p.Ser431Tyr)
NM_002860.4(ALDH18A1):c.1305C>T (p.Ser435=)
NM_002860.4(ALDH18A1):c.1312A>G (p.Ile438Val)
NM_002860.4(ALDH18A1):c.1321C>T (p.Arg441Ter) rs145289559
NM_002860.4(ALDH18A1):c.1322G>A (p.Arg441Gln)
NM_002860.4(ALDH18A1):c.1330G>A (p.Ala444Thr)
NM_002860.4(ALDH18A1):c.1350C>T (p.Ser450=)
NM_002860.4(ALDH18A1):c.1357C>T (p.Arg453Cys)
NM_002860.4(ALDH18A1):c.135C>A (p.Asn45Lys)
NM_002860.4(ALDH18A1):c.1369C>T (p.Arg457Cys)
NM_002860.4(ALDH18A1):c.1370G>A (p.Arg457His) rs570730665
NM_002860.4(ALDH18A1):c.1370G>T (p.Arg457Leu) rs570730665
NM_002860.4(ALDH18A1):c.1371C>T (p.Arg457=)
NM_002860.4(ALDH18A1):c.1376G>C (p.Arg459Pro) rs771386671
NM_002860.4(ALDH18A1):c.1380C>A (p.Ile460=) rs770247123
NM_002860.4(ALDH18A1):c.1385A>G (p.Lys462Arg) rs886047511
NM_002860.4(ALDH18A1):c.1393G>C (p.Glu465Gln) rs757876226
NM_002860.4(ALDH18A1):c.140C>T (p.Pro47Leu)
NM_002860.4(ALDH18A1):c.1411G>A (p.Val471Ile) rs778369085
NM_002860.4(ALDH18A1):c.1411G>T (p.Val471Phe) rs778369085
NM_002860.4(ALDH18A1):c.141G>A (p.Pro47=)
NM_002860.4(ALDH18A1):c.141G>C (p.Pro47=)
NM_002860.4(ALDH18A1):c.141G>T (p.Pro47=) rs748824728
NM_002860.4(ALDH18A1):c.1447C>T (p.Arg483Cys)
NM_002860.4(ALDH18A1):c.1457G>A (p.Cys486Tyr)
NM_002860.4(ALDH18A1):c.1463C>T (p.Pro488Leu)
NM_002860.4(ALDH18A1):c.1467+12C>T
NM_002860.4(ALDH18A1):c.1467+18G>A
NM_002860.4(ALDH18A1):c.1467G>A (p.Gln489=)
NM_002860.4(ALDH18A1):c.1468-19C>T
NM_002860.4(ALDH18A1):c.1468-2A>C
NM_002860.4(ALDH18A1):c.1473A>T (p.Ala491=) rs1374293487
NM_002860.4(ALDH18A1):c.1474G>A (p.Ala492Thr) rs2139552444
NM_002860.4(ALDH18A1):c.1474G>C (p.Ala492Pro)
NM_002860.4(ALDH18A1):c.1492G>A (p.Gly498Ser)
NM_002860.4(ALDH18A1):c.1499G>T (p.Gly500Val) rs1194593234
NM_002860.4(ALDH18A1):c.1503G>A (p.Leu501=) rs77717600
NM_002860.4(ALDH18A1):c.1506A>G (p.Leu502=)
NM_002860.4(ALDH18A1):c.1509C>A (p.Leu503=)
NM_002860.4(ALDH18A1):c.1514G>A (p.Gly505Glu)
NM_002860.4(ALDH18A1):c.1517G>T (p.Gly506Val)
NM_002860.4(ALDH18A1):c.1521_1522delinsTA (p.Lys507_Glu508delinsAsnLys)
NM_002860.4(ALDH18A1):c.1524G>A (p.Glu508=)
NM_002860.4(ALDH18A1):c.1537A>T (p.Asn513Tyr)
NM_002860.4(ALDH18A1):c.1541G>A (p.Arg514Gln)
NM_002860.4(ALDH18A1):c.1549C>T (p.His517Tyr)
NM_002860.4(ALDH18A1):c.1551C>A (p.His517Gln) rs185313265
NM_002860.4(ALDH18A1):c.1551C>T (p.His517=)
NM_002860.4(ALDH18A1):c.155C>T (p.Pro52Leu) rs140745368
NM_002860.4(ALDH18A1):c.1564_1565delinsTT (p.Glu522Leu)
NM_002860.4(ALDH18A1):c.1567G>C (p.Ala523Pro)
NM_002860.4(ALDH18A1):c.1567G>T (p.Ala523Ser)
NM_002860.4(ALDH18A1):c.1576A>G (p.Ile526Val)
NM_002860.4(ALDH18A1):c.157C>G (p.Leu53Val)
NM_002860.4(ALDH18A1):c.1590G>A (p.Lys530=)
NM_002860.4(ALDH18A1):c.1594G>A (p.Ala532Thr)
NM_002860.4(ALDH18A1):c.1595C>T (p.Ala532Val)
NM_002860.4(ALDH18A1):c.1605+11G>C
NM_002860.4(ALDH18A1):c.1605+16T>C
NM_002860.4(ALDH18A1):c.1605+5G>A rs886047510
NM_002860.4(ALDH18A1):c.1606-13T>C
NM_002860.4(ALDH18A1):c.1606-15T>C rs2139542064
NM_002860.4(ALDH18A1):c.1606-18del rs532582192
NM_002860.4(ALDH18A1):c.1606-19_1606-15del
NM_002860.4(ALDH18A1):c.1606-7T>C
NM_002860.4(ALDH18A1):c.1617A>C (p.Arg539Ser)
NM_002860.4(ALDH18A1):c.1624G>A (p.Val542Ile) rs552325165
NM_002860.4(ALDH18A1):c.1632T>A (p.Asp544Glu)
NM_002860.4(ALDH18A1):c.1639C>T (p.Arg547Cys)
NM_002860.4(ALDH18A1):c.163C>T (p.Arg55Cys)
NM_002860.4(ALDH18A1):c.1640G>A (p.Arg547His)
NM_002860.4(ALDH18A1):c.1653G>T (p.Met551Ile)
NM_002860.4(ALDH18A1):c.1655T>C (p.Ile552Thr)
NM_002860.4(ALDH18A1):c.1664T>A (p.Ile555Asn)
NM_002860.4(ALDH18A1):c.1672C>G (p.Arg558Gly)
NM_002860.4(ALDH18A1):c.1673G>A (p.Arg558His)
NM_002860.4(ALDH18A1):c.1685A>G (p.Gln562Arg)
NM_002860.4(ALDH18A1):c.1687C>T (p.Leu563=)
NM_002860.4(ALDH18A1):c.1690G>A (p.Val564Ile) rs2097840471
NM_002860.4(ALDH18A1):c.1691T>C (p.Val564Ala)
NM_002860.4(ALDH18A1):c.16T>C (p.Tyr6His)
NM_002860.4(ALDH18A1):c.1703A>G (p.Gln568Arg)
NM_002860.4(ALDH18A1):c.1703A>T (p.Gln568Leu)
NM_002860.4(ALDH18A1):c.1713dup (p.Lys572Ter)
NM_002860.4(ALDH18A1):c.1729A>G (p.Met577Val)
NM_002860.4(ALDH18A1):c.1737C>T (p.His579=)
NM_002860.4(ALDH18A1):c.1739G>A (p.Ser580Asn)
NM_002860.4(ALDH18A1):c.1740C>G (p.Ser580Arg) rs139035272
NM_002860.4(ALDH18A1):c.1740C>T (p.Ser580=) rs139035272
NM_002860.4(ALDH18A1):c.1771G>A (p.Glu591Lys)
NM_002860.4(ALDH18A1):c.1773G>T (p.Glu591Asp)
NM_002860.4(ALDH18A1):c.1777A>G (p.Ser593Gly) rs1231068982
NM_002860.4(ALDH18A1):c.1778G>C (p.Ser593Thr)
NM_002860.4(ALDH18A1):c.177del (p.Lys59fs) rs1555264243
NM_002860.4(ALDH18A1):c.1780G>A (p.Val594Ile)
NM_002860.4(ALDH18A1):c.1784A>G (p.Asp595Gly)
NM_002860.4(ALDH18A1):c.1784A>T (p.Asp595Val)
NM_002860.4(ALDH18A1):c.1788G>T (p.Lys596Asn) rs764910330
NM_002860.4(ALDH18A1):c.1795del (p.Arg599fs)
NM_002860.4(ALDH18A1):c.1798C>G (p.Leu600Val) rs1755139847
NM_002860.4(ALDH18A1):c.1801+10A>G
NM_002860.4(ALDH18A1):c.1802-20C>A
NM_002860.4(ALDH18A1):c.1802-20C>G
NM_002860.4(ALDH18A1):c.1802-21_1802-17del
NM_002860.4(ALDH18A1):c.1802-4_1924-902delinsG
NM_002860.4(ALDH18A1):c.1804del (p.Arg602fs)
NM_002860.4(ALDH18A1):c.1827A>T (p.Pro609=)
NM_002860.4(ALDH18A1):c.1864C>G (p.Arg622Gly)
NM_002860.4(ALDH18A1):c.1875C>A (p.Leu625=)
NM_002860.4(ALDH18A1):c.1894C>A (p.Gln632Lys)
NM_002860.4(ALDH18A1):c.1897A>G (p.Ile633Val)
NM_002860.4(ALDH18A1):c.190C>T (p.Arg64Cys)
NM_002860.4(ALDH18A1):c.1915G>A (p.Val639Met)
NM_002860.4(ALDH18A1):c.1917G>A (p.Val639=)
NM_002860.4(ALDH18A1):c.191G>A (p.Arg64His)
NM_002860.4(ALDH18A1):c.1923+13T>C
NM_002860.4(ALDH18A1):c.1924-11del
NM_002860.4(ALDH18A1):c.1924G>C (p.Val642Leu)
NM_002860.4(ALDH18A1):c.1936G>C (p.Ala646Pro) rs2097834259
NM_002860.4(ALDH18A1):c.1940G>A (p.Gly647Asp) rs2139530815
NM_002860.4(ALDH18A1):c.1953C>T (p.Ala651=)
NM_002860.4(ALDH18A1):c.1956C>T (p.Ser652=)
NM_002860.4(ALDH18A1):c.1958A>C (p.Tyr653Ser)
NM_002860.4(ALDH18A1):c.195T>C (p.Ser65=)
NM_002860.4(ALDH18A1):c.1985A>G (p.Lys662Arg) rs1250411325
NM_002860.4(ALDH18A1):c.1990C>T (p.Leu664Phe) rs2097834101
NM_002860.4(ALDH18A1):c.1991T>C (p.Leu664Pro)
NM_002860.4(ALDH18A1):c.1993C>T (p.Arg665Ter)
NM_002860.4(ALDH18A1):c.1994G>A (p.Arg665Gln)
NM_002860.4(ALDH18A1):c.19C>T (p.Arg7Cys)
NM_002860.4(ALDH18A1):c.2007G>A (p.Gly669=)
NM_002860.4(ALDH18A1):c.2024T>C (p.Ile675Thr) rs989031241
NM_002860.4(ALDH18A1):c.2028A>G (p.Glu676=) rs1327684346
NM_002860.4(ALDH18A1):c.2032G>A (p.Val678Met)
NM_002860.4(ALDH18A1):c.2039A>G (p.Asn680Ser) rs2139530277
NM_002860.4(ALDH18A1):c.2041G>T (p.Val681Phe)
NM_002860.4(ALDH18A1):c.2045A>G (p.Gln682Arg)
NM_002860.4(ALDH18A1):c.204G>C (p.Lys68Asn) rs768807587
NM_002860.4(ALDH18A1):c.2051C>A (p.Ala684Asp)
NM_002860.4(ALDH18A1):c.2054T>C (p.Ile685Thr) rs2139530175
NM_002860.4(ALDH18A1):c.2064C>T (p.Ile688=)
NM_002860.4(ALDH18A1):c.2067C>G (p.His689Gln)
NM_002860.4(ALDH18A1):c.2078G>C (p.Ser693Thr)
NM_002860.4(ALDH18A1):c.2081C>T (p.Ser694Phe)
NM_002860.4(ALDH18A1):c.2085C>T (p.His695=)
NM_002860.4(ALDH18A1):c.2087C>T (p.Thr696Met)
NM_002860.4(ALDH18A1):c.2088G>A (p.Thr696=)
NM_002860.4(ALDH18A1):c.2090A>T (p.Asp697Val)
NM_002860.4(ALDH18A1):c.2094C>A (p.Val698=)
NM_002860.4(ALDH18A1):c.2094C>T (p.Val698=)
NM_002860.4(ALDH18A1):c.2097C>T (p.Ile699=)
NM_002860.4(ALDH18A1):c.2098G>T (p.Val700Phe) rs375705932
NM_002860.4(ALDH18A1):c.20G>A (p.Arg7His)
NM_002860.4(ALDH18A1):c.20G>C (p.Arg7Pro) rs753553298
NM_002860.4(ALDH18A1):c.2110+10C>T
NM_002860.4(ALDH18A1):c.2110+12G>A
NM_002860.4(ALDH18A1):c.2110+15G>A
NM_002860.4(ALDH18A1):c.2110+16C>T
NM_002860.4(ALDH18A1):c.2111-12_2111-10del
NM_002860.4(ALDH18A1):c.2111-14T>C
NM_002860.4(ALDH18A1):c.2111-5T>C
NM_002860.4(ALDH18A1):c.2111-7C>A rs542177817
NM_002860.4(ALDH18A1):c.2114A>G (p.Asn705Ser) rs1325485951
NM_002860.4(ALDH18A1):c.2117_2118del (p.Thr706fs)
NM_002860.4(ALDH18A1):c.2131del (p.Leu711fs) rs587777858
NM_002860.4(ALDH18A1):c.2135A>G (p.Gln712Arg) rs2097831329
NM_002860.4(ALDH18A1):c.2139C>T (p.His713=)
NM_002860.4(ALDH18A1):c.2148T>C (p.Ser716=)
NM_002860.4(ALDH18A1):c.2149G>A (p.Ala717Thr)
NM_002860.4(ALDH18A1):c.2159T>C (p.Phe720Ser) rs2097831271
NM_002860.4(ALDH18A1):c.2182T>A (p.Ser728Thr)
NM_002860.4(ALDH18A1):c.2195G>A (p.Arg732His) rs774916138
NM_002860.4(ALDH18A1):c.2201G>A (p.Gly734Glu)
NM_002860.4(ALDH18A1):c.2207-14A>T
NM_002860.4(ALDH18A1):c.2207-7_2207-6inv
NM_002860.4(ALDH18A1):c.220G>A (p.Val74Met)
NM_002860.4(ALDH18A1):c.220G>T (p.Val74Leu)
NM_002860.4(ALDH18A1):c.2225G>T (p.Ser742Ile) rs765567477
NM_002860.4(ALDH18A1):c.2230T>A (p.Ser744Thr)
NM_002860.4(ALDH18A1):c.2231C>G (p.Ser744Trp) rs762271422
NM_002860.4(ALDH18A1):c.2231C>T (p.Ser744Leu) rs762271422
NM_002860.4(ALDH18A1):c.2232G>C (p.Ser744=) rs148601288
NM_002860.4(ALDH18A1):c.223G>T (p.Val75Leu)
NM_002860.4(ALDH18A1):c.2241C>T (p.His747=)
NM_002860.4(ALDH18A1):c.2257G>A (p.Gly753Arg) rs2139513759
NM_002860.4(ALDH18A1):c.2260C>T (p.Leu754Phe) rs2139513721
NM_002860.4(ALDH18A1):c.2270T>G (p.Leu757Arg) rs2139513699
NM_002860.4(ALDH18A1):c.2277T>C (p.Thr759=)
NM_002860.4(ALDH18A1):c.2278A>G (p.Thr760Ala)
NM_002860.4(ALDH18A1):c.2279C>G (p.Thr760Ser)
NM_002860.4(ALDH18A1):c.2279C>T (p.Thr760Ile)
NM_002860.4(ALDH18A1):c.227A>G (p.Lys76Arg)
NM_002860.4(ALDH18A1):c.22T>A (p.Cys8Ser)
NM_002860.4(ALDH18A1):c.22T>C (p.Cys8Arg) rs2139670118
NM_002860.4(ALDH18A1):c.2307C>T (p.His769=)
NM_002860.4(ALDH18A1):c.2329C>A (p.His777Asn)
NM_002860.4(ALDH18A1):c.2329C>T (p.His777Tyr) rs553385013
NM_002860.4(ALDH18A1):c.232G>A (p.Gly78Ser)
NM_002860.4(ALDH18A1):c.2339T>C (p.Leu780Ser)
NM_002860.4(ALDH18A1):c.2344T>C (p.Tyr782His)
NM_002860.4(ALDH18A1):c.2345A>C (p.Tyr782Ser) rs774047299
NM_002860.4(ALDH18A1):c.2350C>T (p.His784Tyr) rs121434583
NM_002860.4(ALDH18A1):c.2353G>A (p.Glu785Lys)
NM_002860.4(ALDH18A1):c.235A>G (p.Ser79Gly)
NM_002860.4(ALDH18A1):c.2365A>G (p.Ile789Val)
NM_002860.4(ALDH18A1):c.2370T>G (p.Pro790=)
NM_002860.4(ALDH18A1):c.250C>T (p.Arg84Ter)
NM_002860.4(ALDH18A1):c.251G>C (p.Arg84Pro)
NM_002860.4(ALDH18A1):c.254G>A (p.Gly85Glu)
NM_002860.4(ALDH18A1):c.255G>T (p.Gly85=)
NM_002860.4(ALDH18A1):c.256G>A (p.Asp86Asn)
NM_002860.4(ALDH18A1):c.259G>A (p.Glu87Lys)
NM_002860.4(ALDH18A1):c.264T>C (p.Cys88=) rs537733180
NM_002860.4(ALDH18A1):c.265G>A (p.Gly89Ser) rs1085307589
NM_002860.4(ALDH18A1):c.26G>T (p.Gly9Val) rs2139670109
NM_002860.4(ALDH18A1):c.279G>A (p.Gly93=)
NM_002860.4(ALDH18A1):c.280C>T (p.Arg94Cys) rs2139642020
NM_002860.4(ALDH18A1):c.281G>A (p.Arg94His)
NM_002860.4(ALDH18A1):c.293T>C (p.Ile98Thr)
NM_002860.4(ALDH18A1):c.295G>A (p.Val99Ile)
NM_002860.4(ALDH18A1):c.299A>C (p.Glu100Ala)
NM_002860.4(ALDH18A1):c.300G>A (p.Glu100=)
NM_002860.4(ALDH18A1):c.303+10A>T
NM_002860.4(ALDH18A1):c.303+12G>A
NM_002860.4(ALDH18A1):c.303+15A>G
NM_002860.4(ALDH18A1):c.303+4_303+7dup rs772902503
NM_002860.4(ALDH18A1):c.304-3del
NM_002860.4(ALDH18A1):c.304-8A>G rs371815111
NM_002860.4(ALDH18A1):c.339del (p.Met113fs)
NM_002860.4(ALDH18A1):c.33G>C (p.Gln11His) rs2097913334
NM_002860.4(ALDH18A1):c.34C>G (p.Pro12Ala)
NM_002860.4(ALDH18A1):c.357C>G (p.Ala119=) rs767594147
NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala) rs863224945
NM_002860.4(ALDH18A1):c.366T>C (p.Phe122=) rs2139622090
NM_002860.4(ALDH18A1):c.371A>G (p.Lys124Arg)
NM_002860.4(ALDH18A1):c.376C>T (p.Arg126Cys)
NM_002860.4(ALDH18A1):c.377G>A (p.Arg126His)
NM_002860.4(ALDH18A1):c.382C>T (p.Arg128Cys)
NM_002860.4(ALDH18A1):c.401C>T (p.Ser134Phe) rs2139621988
NM_002860.4(ALDH18A1):c.407G>A (p.Ser136Asn)
NM_002860.4(ALDH18A1):c.408C>A (p.Ser136Arg)
NM_002860.4(ALDH18A1):c.408C>T (p.Ser136=)
NM_002860.4(ALDH18A1):c.409G>A (p.Val137Met)
NM_002860.4(ALDH18A1):c.40A>G (p.Asn14Asp)
NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp) rs863225044
NM_002860.4(ALDH18A1):c.413G>A (p.Arg138Gln) rs863225045
NM_002860.4(ALDH18A1):c.413G>T (p.Arg138Leu) rs863225045
NM_002860.4(ALDH18A1):c.428C>T (p.Ser143Leu) rs1302919102
NM_002860.4(ALDH18A1):c.42C>T (p.Asn14=)
NM_002860.4(ALDH18A1):c.448G>A (p.Glu150Lys)
NM_002860.4(ALDH18A1):c.453+13del rs773804418
NM_002860.4(ALDH18A1):c.453+14C>G
NM_002860.4(ALDH18A1):c.454-12G>C
NM_002860.4(ALDH18A1):c.467T>G (p.Leu156Ter)
NM_002860.4(ALDH18A1):c.469G>C (p.Glu157Gln)
NM_002860.4(ALDH18A1):c.475C>A (p.Arg159=)
NM_002860.4(ALDH18A1):c.492C>G (p.Ala164=)
NM_002860.4(ALDH18A1):c.49C>A (p.Leu17Ile) rs2139670010
NM_002860.4(ALDH18A1):c.522G>A (p.Glu174=) rs1240158166
NM_002860.4(ALDH18A1):c.526A>G (p.Met176Val)
NM_002860.4(ALDH18A1):c.545del (p.Ile182fs)
NM_002860.4(ALDH18A1):c.553_554delinsTT (p.Ala185Phe)
NM_002860.4(ALDH18A1):c.555C>G (p.Ala185=)
NM_002860.4(ALDH18A1):c.558+18G>T rs2139620979
NM_002860.4(ALDH18A1):c.559-12T>C
NM_002860.4(ALDH18A1):c.565G>C (p.Val189Leu)
NM_002860.4(ALDH18A1):c.572A>C (p.Asn191Thr) rs747052164
NM_002860.4(ALDH18A1):c.601C>T (p.Arg201Trp)
NM_002860.4(ALDH18A1):c.604A>T (p.Asn202Tyr)
NM_002860.4(ALDH18A1):c.618A>G (p.Thr206=)
NM_002860.4(ALDH18A1):c.619C>G (p.Leu207Val)
NM_002860.4(ALDH18A1):c.634A>G (p.Arg212Gly)
NM_002860.4(ALDH18A1):c.642C>T (p.Asn214=) rs1589534526
NM_002860.4(ALDH18A1):c.648C>A (p.Val216=)
NM_002860.4(ALDH18A1):c.64A>G (p.Lys22Glu)
NM_002860.4(ALDH18A1):c.653T>C (p.Ile218Thr)
NM_002860.4(ALDH18A1):c.678C>A (p.Val226=)
NM_002860.4(ALDH18A1):c.680C>G (p.Pro227Arg)
NM_002860.4(ALDH18A1):c.681C>T (p.Pro227=)
NM_002860.4(ALDH18A1):c.684dup (p.Ala229fs)
NM_002860.4(ALDH18A1):c.687T>C (p.Ala229=)
NM_002860.4(ALDH18A1):c.695A>G (p.Asn232Ser)
NM_002860.4(ALDH18A1):c.709G>T (p.Gly237Trp) rs201841420
NM_002860.4(ALDH18A1):c.712G>T (p.Val238Leu)
NM_002860.4(ALDH18A1):c.714A>G (p.Val238=)
NM_002860.4(ALDH18A1):c.715A>G (p.Asn239Asp) rs2139609482
NM_002860.4(ALDH18A1):c.717+13T>C
NM_002860.4(ALDH18A1):c.717+9A>C
NM_002860.4(ALDH18A1):c.718-11C>G
NM_002860.4(ALDH18A1):c.718-14A>G
NM_002860.4(ALDH18A1):c.718-20C>T rs1488774481
NM_002860.4(ALDH18A1):c.718-3T>C
NM_002860.4(ALDH18A1):c.718-7A>C rs1230591674
NM_002860.4(ALDH18A1):c.718G>C (p.Val240Leu) rs2139608040
NM_002860.4(ALDH18A1):c.71C>T (p.Thr24Ile)
NM_002860.4(ALDH18A1):c.731A>G (p.Lys244Arg) rs2139607977
NM_002860.4(ALDH18A1):c.732_737del (p.Lys244_Asp245del)
NM_002860.4(ALDH18A1):c.73A>G (p.Thr25Ala)
NM_002860.4(ALDH18A1):c.741del (p.Asp247fs) rs1555262375
NM_002860.4(ALDH18A1):c.743G>A (p.Ser248Asn) rs2097873418
NM_002860.4(ALDH18A1):c.748G>A (p.Ala250Thr)
NM_002860.4(ALDH18A1):c.754C>G (p.Arg252Gly)
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln) rs864321670
NM_002860.4(ALDH18A1):c.762T>A (p.Ala254=)
NM_002860.4(ALDH18A1):c.763G>T (p.Val255Leu)
NM_002860.4(ALDH18A1):c.781C>G (p.Leu261Val)
NM_002860.4(ALDH18A1):c.782T>C (p.Leu261Pro)
NM_002860.4(ALDH18A1):c.808+3A>G
NM_002860.4(ALDH18A1):c.809-15_809-14del
NM_002860.4(ALDH18A1):c.809-17T>G
NM_002860.4(ALDH18A1):c.809-18C>T rs778442273
NM_002860.4(ALDH18A1):c.809-1G>A rs1202802893
NM_002860.4(ALDH18A1):c.809-8T>C rs1405015772
NM_002860.4(ALDH18A1):c.819C>T (p.Asp273=) rs752470665
NM_002860.4(ALDH18A1):c.826C>T (p.Pro276Ser) rs372092118
NM_002860.4(ALDH18A1):c.836A>G (p.Asp279Gly)
NM_002860.4(ALDH18A1):c.837T>C (p.Asp279=)
NM_002860.4(ALDH18A1):c.839A>G (p.Asp280Gly)
NM_002860.4(ALDH18A1):c.839A>T (p.Asp280Val) rs981914821
NM_002860.4(ALDH18A1):c.856A>G (p.Ile286Val)
NM_002860.4(ALDH18A1):c.867C>T (p.Pro289=)
NM_002860.4(ALDH18A1):c.86C>T (p.Ser29Phe)
NM_002860.4(ALDH18A1):c.87T>G (p.Ser29=) rs2097913253
NM_002860.4(ALDH18A1):c.88+13G>C
NM_002860.4(ALDH18A1):c.88+19T>G
NM_002860.4(ALDH18A1):c.887C>A (p.Thr296Lys) rs768985400
NM_002860.4(ALDH18A1):c.89-12T>G
NM_002860.4(ALDH18A1):c.89-14T>G
NM_002860.4(ALDH18A1):c.89-1G>C rs2139642879
NM_002860.4(ALDH18A1):c.89-3C>T
NM_002860.4(ALDH18A1):c.89-6C>G rs2097895286
NM_002860.4(ALDH18A1):c.89-9T>C
NM_002860.4(ALDH18A1):c.917G>T (p.Gly306Val)
NM_002860.4(ALDH18A1):c.928_929delinsAT (p.Ala310Ile)
NM_002860.4(ALDH18A1):c.933+19_933+20insAAGAATCTGGTGCCTTACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAAGATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
NM_002860.4(ALDH18A1):c.933+1G>A rs2139593958
NM_002860.4(ALDH18A1):c.933+6A>C
NM_002860.4(ALDH18A1):c.945C>A (p.Ala315=)
NM_002860.4(ALDH18A1):c.945C>T (p.Ala315=) rs566528582
NM_002860.4(ALDH18A1):c.946C>G (p.Leu316Val)
NM_002860.4(ALDH18A1):c.95T>C (p.Ile32Thr)
NM_002860.4(ALDH18A1):c.965G>T (p.Gly322Val)
NM_002860.4(ALDH18A1):c.967A>G (p.Thr323Ala)
NM_002860.4(ALDH18A1):c.973G>T (p.Val325Phe) rs192770256
NM_002860.4(ALDH18A1):c.973GTT[1] (p.Val326del)
NM_002860.4(ALDH18A1):c.994C>T (p.His332Tyr)
NM_003573.2(LTBP4):c.213C>A (p.Leu71=) rs886054443
NM_003573.2(LTBP4):c.230+2T>G rs2146012706
NM_003573.2(LTBP4):c.231-14C>G rs2081412659
NM_003573.2(LTBP4):c.239A>G (p.Glu80Gly)
NM_003573.2(LTBP4):c.273G>C (p.Arg91=) rs2081413206
NM_003573.2(LTBP4):c.334G>T (p.Ala112Ser) rs2081414000
NM_003573.2(LTBP4):c.76-2A>G
NM_006329.3(FBLN5):c.380-9061_873dup
NM_006329.4(FBLN5):c.-139C>T rs554315938
NM_006329.4(FBLN5):c.-389C>A rs886050891
NM_006329.4(FBLN5):c.-428G>C rs886050893
NM_006329.4(FBLN5):c.-77C>G rs751344551
NM_006329.4(FBLN5):c.1063G>C (p.Val355Leu) rs754104809
NM_006329.4(FBLN5):c.1090G>T (p.Asp364Tyr) rs1802492
NM_006329.4(FBLN5):c.1130C>T (p.Ala377Val) rs1889226797
NM_006329.4(FBLN5):c.1134T>G (p.Tyr378Ter) rs746506432
NM_006329.4(FBLN5):c.1171G>T (p.Glu391Ter) rs80338767
NM_006329.4(FBLN5):c.1201_1202del (p.Ser401fs) rs1595286986
NM_006329.4(FBLN5):c.124+8C>A rs2056089374
NM_006329.4(FBLN5):c.1307T>A (p.Val436Glu) rs1453600644
NM_006329.4(FBLN5):c.388G>A (p.Glu130Lys) rs886050888
NM_006329.4(FBLN5):c.422C>T (p.Thr141Ile) rs1890163941
NM_006329.4(FBLN5):c.432C>G (p.Cys144Trp)
NM_006329.4(FBLN5):c.479G>A (p.Trp160Ter)
NM_006329.4(FBLN5):c.649T>C (p.Cys217Arg) rs80338766
NM_006329.4(FBLN5):c.679T>C (p.Ser227Pro) rs28939370
NM_006329.4(FBLN5):c.726C>G (p.Gly242=) rs148209555
NM_006329.4(FBLN5):c.850C>T (p.Arg284Ter) rs2139960687
NM_006907.4(PYCR1):c.*195A>T rs2041031817
NM_006907.4(PYCR1):c.*482G>A rs570757755
NM_006907.4(PYCR1):c.*504G>C rs886053569
NM_006907.4(PYCR1):c.*622G>A rs886053568
NM_006907.4(PYCR1):c.*699G>T rs886053567
NM_006907.4(PYCR1):c.*746C>T rs886053566
NM_006907.4(PYCR1):c.-250C>T rs886053572
NM_006907.4(PYCR1):c.-378G>C
NM_006907.4(PYCR1):c.-77G>A rs886053571
NM_006907.4(PYCR1):c.11G>T (p.Gly4Val) rs1598358440
NM_006907.4(PYCR1):c.11del (p.Gly4fs) rs1598358449
NM_006907.4(PYCR1):c.148del (p.Gly49_Val50insTer)
NM_006907.4(PYCR1):c.151A>T (p.Lys51Ter)
NM_006907.4(PYCR1):c.164A>T (p.His55Leu) rs777125670
NM_006907.4(PYCR1):c.219_220dup (p.Ile74fs) rs2041157497
NM_006907.4(PYCR1):c.231dup (p.Ile78fs)
NM_006907.4(PYCR1):c.291_294dup (p.Val99fs)
NM_006907.4(PYCR1):c.318+1G>A
NM_006907.4(PYCR1):c.345del (p.Arg116fs) rs758601634
NM_006907.4(PYCR1):c.346A>G (p.Arg116Gly) rs2041142934
NM_006907.4(PYCR1):c.355C>G (p.Arg119Gly) rs121918376
NM_006907.4(PYCR1):c.386_387insCGCA (p.Glu130fs)
NM_006907.4(PYCR1):c.394_400del (p.Ala132fs)
NM_006907.4(PYCR1):c.409A>G (p.Thr137Ala) rs1243324455
NM_006907.4(PYCR1):c.431A>G (p.Glu144Gly) rs2041137102
NM_006907.4(PYCR1):c.540+1G>T rs752297179
NM_006907.4(PYCR1):c.556G>T (p.Asp186Tyr) rs2143872369
NM_006907.4(PYCR1):c.559G>A (p.Ala187Thr) rs763349891
NM_006907.4(PYCR1):c.575del (p.Gly192fs)
NM_006907.4(PYCR1):c.616G>T (p.Gly206Trp) rs121918375
NM_006907.4(PYCR1):c.618_633+7del rs1598354372
NM_006907.4(PYCR1):c.67+10del rs779525010
NM_006907.4(PYCR1):c.67+2T>A rs2041207320
NM_006907.4(PYCR1):c.722C>A (p.Ala241Asp) rs770505872
NM_006907.4(PYCR1):c.770C>T (p.Ala257Val)
NM_006907.4(PYCR1):c.797+2_797+5del rs1371235353
NM_006907.4(PYCR1):c.798-4C>T rs1265069029
NM_012463.3(ATP6V0A2):c.-243C>A rs886049058
NM_012463.4(ATP6V0A2):c.*115C>T rs367543009
NM_012463.4(ATP6V0A2):c.*1620T>A rs189881056
NM_012463.4(ATP6V0A2):c.*1950G>A rs1956794312
NM_012463.4(ATP6V0A2):c.*2128_*2129del rs150303181
NM_012463.4(ATP6V0A2):c.*2161C>G rs886049071
NM_012463.4(ATP6V0A2):c.*2186_*2189del rs772714418
NM_012463.4(ATP6V0A2):c.*2344_*2346dup rs886049074
NM_012463.4(ATP6V0A2):c.*2353G>T rs74386589
NM_012463.4(ATP6V0A2):c.*2771A>G rs1026356999
NM_012463.4(ATP6V0A2):c.*2782C>A rs183280767
NM_012463.4(ATP6V0A2):c.*2984_*2986del rs886049075
NM_012463.4(ATP6V0A2):c.*3167G>A rs112529654
NM_012463.4(ATP6V0A2):c.*3368T>G rs1956822109
NM_012463.4(ATP6V0A2):c.*564T>C rs886049066
NM_012463.4(ATP6V0A2):c.*60dup rs747772644
NM_012463.4(ATP6V0A2):c.*63C>T rs576086591
NM_012463.4(ATP6V0A2):c.-170C>A rs540324717
NM_012463.4(ATP6V0A2):c.1002del (p.Leu335fs) rs1956563926
NM_012463.4(ATP6V0A2):c.1046del (p.Ser349fs)
NM_012463.4(ATP6V0A2):c.117+1del
NM_012463.4(ATP6V0A2):c.1189G>C (p.Ala397Pro)
NM_012463.4(ATP6V0A2):c.124C>T (p.Gln42Ter)
NM_012463.4(ATP6V0A2):c.130del (p.Asn43_Val44insTer)
NM_012463.4(ATP6V0A2):c.1324G>T (p.Glu442Ter) rs80356755
NM_012463.4(ATP6V0A2):c.1418C>G (p.Ser473Ter)
NM_012463.4(ATP6V0A2):c.1430A>G (p.Asn477Ser) rs532258057
NM_012463.4(ATP6V0A2):c.1609T>C (p.Trp537Arg)
NM_012463.4(ATP6V0A2):c.1666G>A (p.Val556Met) rs139454557
NM_012463.4(ATP6V0A2):c.16_19del (p.Arg6fs)
NM_012463.4(ATP6V0A2):c.1724+20del rs375845531
NM_012463.4(ATP6V0A2):c.1724+2T>C
NM_012463.4(ATP6V0A2):c.1820A>G (p.Tyr607Cys) rs886049061
NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs) rs80356756
NM_012463.4(ATP6V0A2):c.208C>T (p.Gln70Ter)
NM_012463.4(ATP6V0A2):c.2137C>T (p.Gln713Ter)
NM_012463.4(ATP6V0A2):c.2176-10TC[2] rs1593920665
NM_012463.4(ATP6V0A2):c.2176-3_2176-2del rs367543007
NM_012463.4(ATP6V0A2):c.2223G>C (p.Glu741Asp) rs780465961
NM_012463.4(ATP6V0A2):c.2231_2255dup (p.Tyr753fs) rs1220385043
NM_012463.4(ATP6V0A2):c.2273C>T (p.Ala758Val) rs886049062
NM_012463.4(ATP6V0A2):c.2302G>A (p.Asp768Asn) rs367543008
NM_012463.4(ATP6V0A2):c.2356_2362del (p.Gly786fs) rs1566294545
NM_012463.4(ATP6V0A2):c.2393del (p.Ala798fs)
NM_012463.4(ATP6V0A2):c.2412C>T (p.Ile804=) rs1414004996
NM_012463.4(ATP6V0A2):c.2441T>A (p.Phe814Tyr) rs2135923855
NM_012463.4(ATP6V0A2):c.2442del (p.Leu815fs)
NM_012463.4(ATP6V0A2):c.264G>A (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.294+1G>A rs80356751
NM_012463.4(ATP6V0A2):c.353_354del (p.Leu118fs) rs80356752
NM_012463.4(ATP6V0A2):c.390_397dup (p.Arg133delinsThrCysTer)
NM_012463.4(ATP6V0A2):c.422G>A (p.Arg141His) rs143509747
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) rs143509747
NM_012463.4(ATP6V0A2):c.535del (p.Gly178_Leu179insTer) rs1956462432
NM_012463.4(ATP6V0A2):c.726T>A (p.Cys242Ter)
NM_012463.4(ATP6V0A2):c.732-23T>C rs2271660
NM_012463.4(ATP6V0A2):c.732-2A>G rs80356753
NM_012463.4(ATP6V0A2):c.786C>G (p.Ile262Met) rs1956545181
NM_012463.4(ATP6V0A2):c.826-5C>T rs1593903077
NM_012463.4(ATP6V0A2):c.840del (p.Glu281fs) rs80356754
NM_012463.4(ATP6V0A2):c.883G>A (p.Val295Ile) rs371533517
NM_012463.4(ATP6V0A2):c.89G>A (p.Gly30Asp) rs1956303931
NM_012463.4(ATP6V0A2):c.976G>T (p.Ala326Ser)
NM_016938.4(EFEMP2):c.-143_-140GGCG[4] rs886048508
NM_016938.4(EFEMP2):c.-181G>A rs886048509
NM_016938.5(EFEMP2):c.*165dup rs201135561
NM_016938.5(EFEMP2):c.*3A>G rs886048505
NM_016938.5(EFEMP2):c.-7-1_-7delinsAT
NM_016938.5(EFEMP2):c.1009C>T (p.Arg337Ter)
NM_016938.5(EFEMP2):c.100G>A (p.Asp34Asn)
NM_016938.5(EFEMP2):c.1011A>G (p.Arg337=) rs2134746954
NM_016938.5(EFEMP2):c.1014G>A (p.Glu338=) rs2134746942
NM_016938.5(EFEMP2):c.1044_1059dup (p.Arg354fs)
NM_016938.5(EFEMP2):c.1050C>T (p.Ile350=)
NM_016938.5(EFEMP2):c.1060C>T (p.Arg354Trp)
NM_016938.5(EFEMP2):c.1065C>T (p.Ser355=)
NM_016938.5(EFEMP2):c.1070_1073dup (p.Asp359fs) rs193302865
NM_016938.5(EFEMP2):c.1071C>T (p.Pro357=)
NM_016938.5(EFEMP2):c.1077C>T (p.Asp359=) rs758240045
NM_016938.5(EFEMP2):c.1080G>C (p.Val360=)
NM_016938.5(EFEMP2):c.1083C>T (p.Phe361=)
NM_016938.5(EFEMP2):c.1092G>A (p.Gln364=)
NM_016938.5(EFEMP2):c.109_111+3del rs1859976995
NM_016938.5(EFEMP2):c.111+18C>G
NM_016938.5(EFEMP2):c.111+18C>T
NM_016938.5(EFEMP2):c.111+19G>A
NM_016938.5(EFEMP2):c.111+4_111+12del rs2134753586
NM_016938.5(EFEMP2):c.1110C>A (p.Pro370=) rs146180527
NM_016938.5(EFEMP2):c.1110C>G (p.Pro370=)
NM_016938.5(EFEMP2):c.1110dup (p.Gly371fs) rs1555042727
NM_016938.5(EFEMP2):c.1123G>C (p.Ala375Pro)
NM_016938.5(EFEMP2):c.1135del (p.Arg379fs)
NM_016938.5(EFEMP2):c.1149G>A (p.Ser383=)
NM_016938.5(EFEMP2):c.1156G>A (p.Asp386Asn)
NM_016938.5(EFEMP2):c.1156G>C (p.Asp386His) rs777806636
NM_016938.5(EFEMP2):c.1161T>C (p.Phe387=) rs1859884972
NM_016938.5(EFEMP2):c.1162T>C (p.Tyr388His)
NM_016938.5(EFEMP2):c.1165A>C (p.Ile389Leu)
NM_016938.5(EFEMP2):c.1167T>C (p.Ile389=)
NM_016938.5(EFEMP2):c.1170+11T>C
NM_016938.5(EFEMP2):c.1170+12G>A
NM_016938.5(EFEMP2):c.1170+13C>T rs2134746467
NM_016938.5(EFEMP2):c.1170+1G>A rs1859884792
NM_016938.5(EFEMP2):c.1171-11C>T
NM_016938.5(EFEMP2):c.1171-14C>T
NM_016938.5(EFEMP2):c.1171-17del
NM_016938.5(EFEMP2):c.1171-17dup
NM_016938.5(EFEMP2):c.1171-19C>T rs543697634
NM_016938.5(EFEMP2):c.1171-7C>T
NM_016938.5(EFEMP2):c.1171-9G>A
NM_016938.5(EFEMP2):c.1174del (p.Ile392fs) rs1591064775
NM_016938.5(EFEMP2):c.1177AAC[1] (p.Asn394del)
NM_016938.5(EFEMP2):c.1183G>C (p.Val395Leu) rs543567156
NM_016938.5(EFEMP2):c.1183G>T (p.Val395Phe)
NM_016938.5(EFEMP2):c.1189G>A (p.Ala397Thr) rs193302868
NM_016938.5(EFEMP2):c.1203C>A (p.Leu401=)
NM_016938.5(EFEMP2):c.1204G>A (p.Ala402Thr)
NM_016938.5(EFEMP2):c.1210C>A (p.Pro404Thr)
NM_016938.5(EFEMP2):c.1211C>T (p.Pro404Leu) rs753393039
NM_016938.5(EFEMP2):c.1218G>A (p.Thr406=)
NM_016938.5(EFEMP2):c.1218G>T (p.Thr406=)
NM_016938.5(EFEMP2):c.1220G>T (p.Gly407Val) rs1859861811
NM_016938.5(EFEMP2):c.1228G>C (p.Glu410Gln)
NM_016938.5(EFEMP2):c.1233C>T (p.Tyr411=)
NM_016938.5(EFEMP2):c.1234G>A (p.Val412Met) rs146879673
NM_016938.5(EFEMP2):c.1234G>C (p.Val412Leu) rs146879673
NM_016938.5(EFEMP2):c.1236G>A (p.Val412=)
NM_016938.5(EFEMP2):c.1248G>A (p.Glu416=)
NM_016938.5(EFEMP2):c.1283C>T (p.Ala428Val) rs1565272014
NM_016938.5(EFEMP2):c.129T>C (p.Tyr43=)
NM_016938.5(EFEMP2):c.1302C>A (p.Leu434=)
NM_016938.5(EFEMP2):c.1302C>T (p.Leu434=)
NM_016938.5(EFEMP2):c.1305C>G (p.Thr435=) rs1260193001
NM_016938.5(EFEMP2):c.1311T>G (p.Phe437Leu) rs1591064625
NM_016938.5(EFEMP2):c.1325C>A (p.Thr442Asn)
NM_016938.5(EFEMP2):c.157C>T (p.Arg53Trp) rs936904481
NM_016938.5(EFEMP2):c.160+14G>T
NM_016938.5(EFEMP2):c.160+17G>A
NM_016938.5(EFEMP2):c.160+17G>T rs1274496096
NM_016938.5(EFEMP2):c.160+20C>T rs1859971594
NM_016938.5(EFEMP2):c.160+7G>T
NM_016938.5(EFEMP2):c.160G>T (p.Asp54Tyr) rs886048506
NM_016938.5(EFEMP2):c.161-13C>A rs771655821
NM_016938.5(EFEMP2):c.161-6C>T
NM_016938.5(EFEMP2):c.164T>A (p.Val55Asp) rs2134752336
NM_016938.5(EFEMP2):c.165C>G (p.Val55=)
NM_016938.5(EFEMP2):c.168C>T (p.Asn56=) rs367732454
NM_016938.5(EFEMP2):c.169G>A (p.Glu57Lys) rs119489101
NM_016938.5(EFEMP2):c.180C>A (p.Thr60=) rs780024554
NM_016938.5(EFEMP2):c.180C>T (p.Thr60=)
NM_016938.5(EFEMP2):c.183C>T (p.Ile61=) rs1591067866
NM_016938.5(EFEMP2):c.18C>T (p.Ser6=)
NM_016938.5(EFEMP2):c.204A>G (p.Glu68=)
NM_016938.5(EFEMP2):c.215T>C (p.Ile72Thr) rs1859961874
NM_016938.5(EFEMP2):c.225C>T (p.Tyr75=)
NM_016938.5(EFEMP2):c.229_230dup (p.Tyr78fs)
NM_016938.5(EFEMP2):c.234C>T (p.Tyr78=) rs2134752225
NM_016938.5(EFEMP2):c.236T>G (p.Leu79Trp) rs1591067819
NM_016938.5(EFEMP2):c.247C>T (p.Arg83Cys)
NM_016938.5(EFEMP2):c.248G>A (p.Arg83His) rs1281626120
NM_016938.5(EFEMP2):c.258C>G (p.Ala86=) rs143873931
NM_016938.5(EFEMP2):c.258C>T (p.Ala86=) rs143873931
NM_016938.5(EFEMP2):c.264C>T (p.Ile88=)
NM_016938.5(EFEMP2):c.268G>A (p.Asp90Asn) rs1859960797
NM_016938.5(EFEMP2):c.270C>T (p.Asp90=)
NM_016938.5(EFEMP2):c.290dup (p.Pro98fs)
NM_016938.5(EFEMP2):c.291G>A (p.Pro97=)
NM_016938.5(EFEMP2):c.296C>T (p.Pro99Leu) rs780659504
NM_016938.5(EFEMP2):c.297A>C (p.Pro99=)
NM_016938.5(EFEMP2):c.305C>T (p.Pro102Leu)
NM_016938.5(EFEMP2):c.306C>G (p.Pro102=)
NM_016938.5(EFEMP2):c.30G>A (p.Gly10=)
NM_016938.5(EFEMP2):c.315C>T (p.His105=) rs774020582
NM_016938.5(EFEMP2):c.316C>A (p.Pro106Thr)
NM_016938.5(EFEMP2):c.321C>T (p.Asn107=) rs762409753
NM_016938.5(EFEMP2):c.32C>G (p.Ser11Cys) rs2134753788
NM_016938.5(EFEMP2):c.333A>G (p.Pro111=)
NM_016938.5(EFEMP2):c.338_339del (p.Gly112_Tyr113insTer)
NM_016938.5(EFEMP2):c.345C>G (p.Pro115=)
NM_016938.5(EFEMP2):c.345C>T (p.Pro115=) rs770611350
NM_016938.5(EFEMP2):c.348C>A (p.Asp116Glu) rs376350227
NM_016938.5(EFEMP2):c.348C>T (p.Asp116=) rs376350227
NM_016938.5(EFEMP2):c.355G>A (p.Asp119Asn) rs756326099
NM_016938.5(EFEMP2):c.367+10del
NM_016938.5(EFEMP2):c.367+13T>C
NM_016938.5(EFEMP2):c.368-13del rs2134751365
NM_016938.5(EFEMP2):c.368-16G>A
NM_016938.5(EFEMP2):c.368-20C>T
NM_016938.5(EFEMP2):c.368-2A>G
NM_016938.5(EFEMP2):c.377A>T (p.Glu126Val) rs193302869
NM_016938.5(EFEMP2):c.379T>C (p.Cys127Arg) rs1859949436
NM_016938.5(EFEMP2):c.397G>A (p.Asp133Asn) rs766172211
NM_016938.5(EFEMP2):c.404G>A (p.Arg135His) rs773352910
NM_016938.5(EFEMP2):c.421C>T (p.His141Tyr)
NM_016938.5(EFEMP2):c.437_439del (p.Ser146del) rs2134751198
NM_016938.5(EFEMP2):c.44G>A (p.Trp15Ter)
NM_016938.5(EFEMP2):c.450C>T (p.Thr150=)
NM_016938.5(EFEMP2):c.455C>A (p.Pro152His)
NM_016938.5(EFEMP2):c.466C>A (p.Arg156Ser)
NM_016938.5(EFEMP2):c.481G>A (p.Glu161Lys) rs761656636
NM_016938.5(EFEMP2):c.481G>C (p.Glu161Gln)
NM_016938.5(EFEMP2):c.48G>T (p.Ala16=)
NM_016938.5(EFEMP2):c.490+16A>G
NM_016938.5(EFEMP2):c.490+8C>T rs2134751112
NM_016938.5(EFEMP2):c.490+9A>T rs1465424178
NM_016938.5(EFEMP2):c.491-13C>G
NM_016938.5(EFEMP2):c.491-15T>C
NM_016938.5(EFEMP2):c.491-4C>G
NM_016938.5(EFEMP2):c.491-5C>G rs749980581
NM_016938.5(EFEMP2):c.491-6C>T
NM_016938.5(EFEMP2):c.492C>T (p.Asp164=)
NM_016938.5(EFEMP2):c.493A>G (p.Ile165Val) rs1859941615
NM_016938.5(EFEMP2):c.49C>T (p.Leu17=)
NM_016938.5(EFEMP2):c.512G>A (p.Arg171His)
NM_016938.5(EFEMP2):c.513C>T (p.Arg171=)
NM_016938.5(EFEMP2):c.519C>T (p.Cys173=)
NM_016938.5(EFEMP2):c.527G>A (p.Arg176His) rs772504760
NM_016938.5(EFEMP2):c.535A>G (p.Asn179Asp)
NM_016938.5(EFEMP2):c.538C>T (p.Leu180=) rs1859940269
NM_016938.5(EFEMP2):c.543T>C (p.Pro181=)
NM_016938.5(EFEMP2):c.546C>T (p.Gly182=)
NM_016938.5(EFEMP2):c.553C>T (p.Arg185Cys)
NM_016938.5(EFEMP2):c.570G>T (p.Pro190=) rs145853251
NM_016938.5(EFEMP2):c.577del (p.Gln193fs) rs193302870
NM_016938.5(EFEMP2):c.591C>T (p.Asn197=)
NM_016938.5(EFEMP2):c.607+14G>T
NM_016938.5(EFEMP2):c.607+19A>G
NM_016938.5(EFEMP2):c.608-1G>C rs888015688
NM_016938.5(EFEMP2):c.608-5_608-4delinsAG
NM_016938.5(EFEMP2):c.608-7C>T
NM_016938.5(EFEMP2):c.609T>C (p.Asp203=)
NM_016938.5(EFEMP2):c.616G>A (p.Glu206Lys) rs1450189245
NM_016938.5(EFEMP2):c.618G>A (p.Glu206=) rs2134750264
NM_016938.5(EFEMP2):c.627G>A (p.Met209Ile)
NM_016938.5(EFEMP2):c.633C>A (p.Ala211=)
NM_016938.5(EFEMP2):c.636A>G (p.Pro212=)
NM_016938.5(EFEMP2):c.63C>T (p.Leu21=) rs1442174846
NM_016938.5(EFEMP2):c.640G>A (p.Glu214Lys)
NM_016938.5(EFEMP2):c.663T>C (p.Tyr221=)
NM_016938.5(EFEMP2):c.667A>T (p.Thr223Ser)
NM_016938.5(EFEMP2):c.668C>T (p.Thr223Ile)
NM_016938.5(EFEMP2):c.679C>T (p.Arg227Cys) rs397514683
NM_016938.5(EFEMP2):c.690G>C (p.Gln230His)
NM_016938.5(EFEMP2):c.6C>A (p.Leu2=) rs1198242126
NM_016938.5(EFEMP2):c.6C>T (p.Leu2=)
NM_016938.5(EFEMP2):c.702G>A (p.Leu234=)
NM_016938.5(EFEMP2):c.711T>C (p.Asp237=)
NM_016938.5(EFEMP2):c.726T>C (p.Ser242=)
NM_016938.5(EFEMP2):c.727+14C>T
NM_016938.5(EFEMP2):c.727+16C>G
NM_016938.5(EFEMP2):c.727+19C>G
NM_016938.5(EFEMP2):c.727+7G>A
NM_016938.5(EFEMP2):c.727+7G>C
NM_016938.5(EFEMP2):c.727+8C>T
NM_016938.5(EFEMP2):c.728-11T>C rs2134748381
NM_016938.5(EFEMP2):c.732TGA[1] (p.Asp245del)
NM_016938.5(EFEMP2):c.759C>G (p.Leu253=) rs1555042933
NM_016938.5(EFEMP2):c.774_775inv (p.Ile259Val)
NM_016938.5(EFEMP2):c.774_776delinsTGC (p.Ile259Ala) rs1859906581
NM_016938.5(EFEMP2):c.778_780del (p.Asn260del)
NM_016938.5(EFEMP2):c.792T>C (p.Arg264=)
NM_016938.5(EFEMP2):c.7C>A (p.Pro3Thr) rs1436359315
NM_016938.5(EFEMP2):c.7C>T (p.Pro3Ser)
NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr) rs193302866
NM_016938.5(EFEMP2):c.828G>T (p.Leu276=)
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys) rs119489102
NM_016938.5(EFEMP2):c.847+14G>A
NM_016938.5(EFEMP2):c.847+9T>C
NM_016938.5(EFEMP2):c.848-12C>T
NM_016938.5(EFEMP2):c.848-15T>C
NM_016938.5(EFEMP2):c.848-1_850del
NM_016938.5(EFEMP2):c.848-9C>T
NM_016938.5(EFEMP2):c.851T>C (p.Ile284Thr) rs1859902632
NM_016938.5(EFEMP2):c.852T>A (p.Ile284=) rs200285623
NM_016938.5(EFEMP2):c.855T>C (p.Asp285=) rs2134747902
NM_016938.5(EFEMP2):c.859dup (p.Cys287fs)
NM_016938.5(EFEMP2):c.861T>A (p.Cys287Ter) rs1044449024
NM_016938.5(EFEMP2):c.862G>C (p.Glu288Gln) rs752273286
NM_016938.5(EFEMP2):c.872C>G (p.Ala291Gly) rs753778921
NM_016938.5(EFEMP2):c.905A>G (p.Asn302Ser) rs769829583
NM_016938.5(EFEMP2):c.912T>C (p.His304=) rs1555042846
NM_016938.5(EFEMP2):c.917dup (p.Tyr307fs)
NM_016938.5(EFEMP2):c.918C>A (p.Gly306=)
NM_016938.5(EFEMP2):c.919_952dup (p.Pro318fs) rs2134747667
NM_016938.5(EFEMP2):c.923G>A (p.Arg308His)
NM_016938.5(EFEMP2):c.931G>A (p.Asp311Asn) rs758052109
NM_016938.5(EFEMP2):c.933C>T (p.Asp311=)
NM_016938.5(EFEMP2):c.933_950dup (p.Val316_Glu317insAspThrAsnArgCysVal)
NM_016938.5(EFEMP2):c.939C>T (p.Asn313=) rs754497556
NM_016938.5(EFEMP2):c.945C>T (p.Cys315=)
NM_016938.5(EFEMP2):c.946G>T (p.Val316Leu) rs113167523
NM_016938.5(EFEMP2):c.964G>A (p.Val322Ile)
NM_016938.5(EFEMP2):c.964G>T (p.Val322Phe) rs759573856
NM_016938.5(EFEMP2):c.969T>C (p.Ser323=)
NM_016938.5(EFEMP2):c.974+7C>T rs371085261
NM_016938.5(EFEMP2):c.975-12C>T
NM_016938.5(EFEMP2):c.975-20C>T
NM_016938.5(EFEMP2):c.975-32C>T rs594689
NM_016938.5(EFEMP2):c.975-5T>G
NM_016938.5(EFEMP2):c.976C>G (p.Arg326Gly)
NM_016938.5(EFEMP2):c.998A>G (p.Asn333Ser)
NM_016938.5(EFEMP2):c.999C>T (p.Asn333=)
NM_016938.5(EFEMP2):c.9C>A (p.Pro3=)
NM_018993.4(RIN2):c.1427C>T (p.Pro476Leu)
NM_018993.4(RIN2):c.1555G>C (p.Ala519Pro)
NM_018993.4(RIN2):c.1642G>A (p.Val548Met) rs181298473
NM_018993.4(RIN2):c.1731del (p.Ile578fs) rs759390822
NM_018993.4(RIN2):c.1731dup (p.Ile578fs) rs759390822
NM_018993.4(RIN2):c.1914_1915del (p.Glu638fs) rs587776915
NM_018993.4(RIN2):c.2104dup (p.Leu702fs) rs1568718508
NM_018993.4(RIN2):c.2492del (p.Pro831fs)
NM_018993.4(RIN2):c.277_278dup (p.His94fs) rs1600939486
NM_018993.4(RIN2):c.28G>A (p.Gly10Ser) rs535994976
NM_018993.4(RIN2):c.695C>T (p.Ser232Phe)
NM_018993.4(RIN2):c.923C>A (p.Pro308Gln) rs374058245
NM_024809.5(TCTN2):c.*330_*331insACTC rs56918215
NM_030777.4(SLC2A10):c.*1141G>A rs571798872
NM_030777.4(SLC2A10):c.*1143G>T rs545129749
NM_030777.4(SLC2A10):c.*1230C>T rs1980503486
NM_030777.4(SLC2A10):c.*1249G>A rs940735282
NM_030777.4(SLC2A10):c.*1502C>T rs1980516262
NM_030777.4(SLC2A10):c.*1715G>A rs1980525551
NM_030777.4(SLC2A10):c.*171C>T rs886056728
NM_030777.4(SLC2A10):c.*194G>A rs192739192
NM_030777.4(SLC2A10):c.*2018C>T rs886056736
NM_030777.4(SLC2A10):c.*2098A>G rs1600677122
NM_030777.4(SLC2A10):c.*2137C>G rs1980545509
NM_030777.4(SLC2A10):c.*2150C>A rs6012025
NM_030777.4(SLC2A10):c.*2416_*2418del rs528431199
NM_030777.4(SLC2A10):c.*269del rs113206025
NM_030777.4(SLC2A10):c.*470_*472del rs3091691
NM_030777.4(SLC2A10):c.*472dup rs3091691
NM_030777.4(SLC2A10):c.*579G>C rs1980468037
NM_030777.4(SLC2A10):c.*659G>A rs868705835
NM_030777.4(SLC2A10):c.*712A>G rs886056732
NM_030777.4(SLC2A10):c.*852T>C rs747965744
NM_030777.4(SLC2A10):c.*898A>C rs777660140
NM_030777.4(SLC2A10):c.*926C>T rs1980487818
NM_030777.4(SLC2A10):c.1002T>A (p.Asn334Lys) rs377238665
NM_030777.4(SLC2A10):c.1012C>A (p.Gln338Lys)
NM_030777.4(SLC2A10):c.1023C>T (p.Leu341=)
NM_030777.4(SLC2A10):c.104C>T (p.Pro35Leu) rs758877524
NM_030777.4(SLC2A10):c.1057C>G (p.Leu353Val) rs200196034
NM_030777.4(SLC2A10):c.10del (p.Ser4fs)
NM_030777.4(SLC2A10):c.1117A>G (p.Lys373Glu)
NM_030777.4(SLC2A10):c.1129del (p.His377fs)
NM_030777.4(SLC2A10):c.1132C>G (p.Pro378Ala)
NM_030777.4(SLC2A10):c.1134C>T (p.Pro378=) rs892020307
NM_030777.4(SLC2A10):c.114T>G (p.Leu38=) rs2123042176
NM_030777.4(SLC2A10):c.1154C>T (p.Ala385Val) rs79849424
NM_030777.4(SLC2A10):c.1162C>T (p.Arg388Trp)
NM_030777.4(SLC2A10):c.1168G>A (p.Ala390Thr) rs1281543071
NM_030777.4(SLC2A10):c.1183C>T (p.Leu395Phe) rs1979943098
NM_030777.4(SLC2A10):c.1185C>T (p.Leu395=) rs371752807
NM_030777.4(SLC2A10):c.1190G>T (p.Gly397Val)
NM_030777.4(SLC2A10):c.1192C>T (p.Pro398Ser)
NM_030777.4(SLC2A10):c.1203C>A (p.Pro401=)
NM_030777.4(SLC2A10):c.1212G>A (p.Gly404=)
NM_030777.4(SLC2A10):c.1216G>A (p.Ala406Thr) rs1301553883
NM_030777.4(SLC2A10):c.1217C>A (p.Ala406Glu) rs752635709
NM_030777.4(SLC2A10):c.1219C>T (p.Leu407=) rs1194888660
NM_030777.4(SLC2A10):c.1221G>T (p.Leu407=)
NM_030777.4(SLC2A10):c.1225C>G (p.Arg409Gly) rs562212724
NM_030777.4(SLC2A10):c.1239G>A (p.Leu413=) rs2123051382
NM_030777.4(SLC2A10):c.1248G>C (p.Leu416=)
NM_030777.4(SLC2A10):c.1265C>G (p.Ala422Gly) rs1600668873
NM_030777.4(SLC2A10):c.1288+19C>T
NM_030777.4(SLC2A10):c.1288+20A>G
NM_030777.4(SLC2A10):c.1288+9A>C
NM_030777.4(SLC2A10):c.1289-16T>C
NM_030777.4(SLC2A10):c.1289-18C>G
NM_030777.4(SLC2A10):c.1289-2A>G
NM_030777.4(SLC2A10):c.1289-3T>G
NM_030777.4(SLC2A10):c.1292C>T (p.Thr431Ile)
NM_030777.4(SLC2A10):c.12C>A (p.Ser4=)
NM_030777.4(SLC2A10):c.1305C>A (p.Leu435=) rs201159437
NM_030777.4(SLC2A10):c.1325A>G (p.Glu442Gly)
NM_030777.4(SLC2A10):c.1326G>A (p.Glu442=) rs2123053808
NM_030777.4(SLC2A10):c.1333G>A (p.Gly445Arg)
NM_030777.4(SLC2A10):c.1334del (p.Gly445fs) rs587776600
NM_030777.4(SLC2A10):c.1337G>C (p.Arg446Thr) rs761324818
NM_030777.4(SLC2A10):c.1338A>G (p.Arg446=)
NM_030777.4(SLC2A10):c.1345G>A (p.Ala449Thr)
NM_030777.4(SLC2A10):c.1375A>C (p.Asn459His) rs781676521
NM_030777.4(SLC2A10):c.1375A>G (p.Asn459Asp) rs781676521
NM_030777.4(SLC2A10):c.137A>G (p.Glu46Gly) rs756331165
NM_030777.4(SLC2A10):c.1384A>G (p.Ile462Val) rs545801780
NM_030777.4(SLC2A10):c.1387A>C (p.Ser463Arg) rs771091234
NM_030777.4(SLC2A10):c.1393_1394del (p.Ser465fs) rs1980007276
NM_030777.4(SLC2A10):c.1401C>A (p.Leu467=)
NM_030777.4(SLC2A10):c.1403A>G (p.Asp468Gly)
NM_030777.4(SLC2A10):c.1408A>T (p.Ile470Phe)
NM_030777.4(SLC2A10):c.1411+16A>G
NM_030777.4(SLC2A10):c.1411+1G>A rs864309479
NM_030777.4(SLC2A10):c.1411+480_1547+299del
NM_030777.4(SLC2A10):c.1412G>A (p.Gly471Asp)
NM_030777.4(SLC2A10):c.1414A>T (p.Thr472Ser) rs1600671602
NM_030777.4(SLC2A10):c.1419C>T (p.Ile473=)
NM_030777.4(SLC2A10):c.1424T>A (p.Leu475Ter) rs2123062030
NM_030777.4(SLC2A10):c.1440G>T (p.Leu480=)
NM_030777.4(SLC2A10):c.1443C>G (p.Leu481=) rs1168833604
NM_030777.4(SLC2A10):c.1446C>A (p.Tyr482Ter)
NM_030777.4(SLC2A10):c.1448G>A (p.Gly483Glu)
NM_030777.4(SLC2A10):c.144G>A (p.Glu48=) rs375145963
NM_030777.4(SLC2A10):c.1456G>A (p.Ala486Thr) rs759205774
NM_030777.4(SLC2A10):c.1465G>T (p.Gly489Cys)
NM_030777.4(SLC2A10):c.1478T>G (p.Ile493Ser)
NM_030777.4(SLC2A10):c.147C>G (p.Phe49Leu) rs1600666532
NM_030777.4(SLC2A10):c.1489G>A (p.Val497Ile) rs758538766
NM_030777.4(SLC2A10):c.1513T>C (p.Leu505=)
NM_030777.4(SLC2A10):c.1539G>C (p.Gln513His) rs1334989775
NM_030777.4(SLC2A10):c.153G>A (p.Val51=)
NM_030777.4(SLC2A10):c.1544G>A (p.Arg515Lys)
NM_030777.4(SLC2A10):c.1547+14del
NM_030777.4(SLC2A10):c.1547+16G>A rs765696201
NM_030777.4(SLC2A10):c.1547+16G>C
NM_030777.4(SLC2A10):c.1547+16G>T
NM_030777.4(SLC2A10):c.1547+17dup
NM_030777.4(SLC2A10):c.1547G>C (p.Arg516Pro) rs760437795
NM_030777.4(SLC2A10):c.1548-10T>C
NM_030777.4(SLC2A10):c.1548-2A>T rs2123074047
NM_030777.4(SLC2A10):c.1548-9G>C
NM_030777.4(SLC2A10):c.1560C>T (p.Ser520=)
NM_030777.4(SLC2A10):c.1573del (p.Gln525fs) rs2123074215
NM_030777.4(SLC2A10):c.1583C>G (p.Thr528Ser) rs1379143650
NM_030777.4(SLC2A10):c.1586G>C (p.Gly529Ala)
NM_030777.4(SLC2A10):c.1588A>G (p.Ile530Val)
NM_030777.4(SLC2A10):c.1604T>G (p.Ile535Ser) rs2123074423
NM_030777.4(SLC2A10):c.1611C>A (p.Ile537=) rs1060502314
NM_030777.4(SLC2A10):c.1611C>T (p.Ile537=)
NM_030777.4(SLC2A10):c.163C>A (p.Leu55Ile)
NM_030777.4(SLC2A10):c.164T>C (p.Leu55Pro) rs1555887820
NM_030777.4(SLC2A10):c.183C>G (p.Ala61=)
NM_030777.4(SLC2A10):c.186C>T (p.Ser62=)
NM_030777.4(SLC2A10):c.187del (p.Leu63fs)
NM_030777.4(SLC2A10):c.18T>C (p.Pro6=) rs1414654111
NM_030777.4(SLC2A10):c.192T>G (p.Val64=)
NM_030777.4(SLC2A10):c.193G>T (p.Gly65Cys) rs1979815162
NM_030777.4(SLC2A10):c.197G>A (p.Gly66Asp) rs1555887829
NM_030777.4(SLC2A10):c.1A>C (p.Met1Leu)
NM_030777.4(SLC2A10):c.1A>G (p.Met1Val)
NM_030777.4(SLC2A10):c.1A>T (p.Met1Leu)
NM_030777.4(SLC2A10):c.204C>A (p.Leu68=)
NM_030777.4(SLC2A10):c.206T>C (p.Ile69Thr) rs1979816863
NM_030777.4(SLC2A10):c.209A>G (p.Asp70Gly) rs1979817884
NM_030777.4(SLC2A10):c.218G>A (p.Gly73Asp) rs1979819377
NM_030777.4(SLC2A10):c.219C>T (p.Gly73=)
NM_030777.4(SLC2A10):c.224A>G (p.Lys75Arg) rs2123043051
NM_030777.4(SLC2A10):c.22del (p.Leu8fs)
NM_030777.4(SLC2A10):c.231C>T (p.Ala77=)
NM_030777.4(SLC2A10):c.237C>T (p.Leu79=) rs201323237
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) rs80358230
NM_030777.4(SLC2A10):c.246C>T (p.Asn82=)
NM_030777.4(SLC2A10):c.252G>C (p.Val84=)
NM_030777.4(SLC2A10):c.258G>A (p.Leu86=)
NM_030777.4(SLC2A10):c.267C>T (p.Ser89=) rs747559824
NM_030777.4(SLC2A10):c.273C>G (p.Thr91=)
NM_030777.4(SLC2A10):c.278G>T (p.Gly93Val)
NM_030777.4(SLC2A10):c.289del (p.Ser97fs)
NM_030777.4(SLC2A10):c.291C>T (p.Ser97=)
NM_030777.4(SLC2A10):c.292C>T (p.Leu98=)
NM_030777.4(SLC2A10):c.296C>T (p.Ala99Val)
NM_030777.4(SLC2A10):c.300G>C (p.Trp100Cys) rs886056725
NM_030777.4(SLC2A10):c.303G>T (p.Leu101=) rs527497095
NM_030777.4(SLC2A10):c.30G>A (p.Leu10=)
NM_030777.4(SLC2A10):c.316G>A (p.Ala106Thr) rs6094438
NM_030777.4(SLC2A10):c.316G>T (p.Ala106Ser) rs6094438
NM_030777.4(SLC2A10):c.331G>A (p.Ala111Thr)
NM_030777.4(SLC2A10):c.333C>T (p.Ala111=)
NM_030777.4(SLC2A10):c.343_832delinsC (p.Ser115_Ala278delinsPro)
NM_030777.4(SLC2A10):c.345C>T (p.Ser115=)
NM_030777.4(SLC2A10):c.354T>G (p.Ala118=) rs2123044063
NM_030777.4(SLC2A10):c.356G>A (p.Cys119Tyr)
NM_030777.4(SLC2A10):c.363C>A (p.Ile121=)
NM_030777.4(SLC2A10):c.365A>G (p.Tyr122Cys) rs1979838213
NM_030777.4(SLC2A10):c.370T>C (p.Ser124Pro)
NM_030777.4(SLC2A10):c.395G>T (p.Arg132Leu) rs376346077
NM_030777.4(SLC2A10):c.397G>A (p.Gly133Arg) rs1555887907
NM_030777.4(SLC2A10):c.4+10G>A rs1978796306
NM_030777.4(SLC2A10):c.4+14G>C
NM_030777.4(SLC2A10):c.4+14G>T
NM_030777.4(SLC2A10):c.4+17C>A
NM_030777.4(SLC2A10):c.4+9C>G rs1057521373
NM_030777.4(SLC2A10):c.411C>T (p.Ser137=) rs1979846423
NM_030777.4(SLC2A10):c.417T>A (p.Tyr139Ter) rs572620317
NM_030777.4(SLC2A10):c.421G>A (p.Ala141Thr) rs756110797
NM_030777.4(SLC2A10):c.425G>T (p.Gly142Val) rs864309480
NM_030777.4(SLC2A10):c.432C>A (p.Thr144=)
NM_030777.4(SLC2A10):c.433G>A (p.Val145Met) rs772308135
NM_030777.4(SLC2A10):c.447C>T (p.Leu149=)
NM_030777.4(SLC2A10):c.473_476del (p.Ala158fs) rs2123045055
NM_030777.4(SLC2A10):c.476G>C (p.Gly159Ala) rs983582627
NM_030777.4(SLC2A10):c.47T>C (p.Leu16Ser)
NM_030777.4(SLC2A10):c.483del (p.Trp162fs) rs2123045187
NM_030777.4(SLC2A10):c.483dup (p.Trp162fs)
NM_030777.4(SLC2A10):c.485G>A (p.Trp162Ter) rs2123045274
NM_030777.4(SLC2A10):c.4G>A (p.Gly2Ser)
NM_030777.4(SLC2A10):c.5-13T>C
NM_030777.4(SLC2A10):c.5-18C>T rs1600666278
NM_030777.4(SLC2A10):c.5-2A>G rs770701918
NM_030777.4(SLC2A10):c.5-7T>G
NM_030777.4(SLC2A10):c.5-9_5-6del rs2123041402
NM_030777.4(SLC2A10):c.5-9_5-7del rs1600666288
NM_030777.4(SLC2A10):c.504C>A (p.Phe168Leu) rs540023880
NM_030777.4(SLC2A10):c.504C>T (p.Phe168=) rs540023880
NM_030777.4(SLC2A10):c.510G>A (p.Trp170Ter) rs80358229
NM_030777.4(SLC2A10):c.51G>T (p.Leu17=)
NM_030777.4(SLC2A10):c.520C>G (p.Pro174Ala) rs1271983394
NM_030777.4(SLC2A10):c.533A>G (p.Gln178Arg) rs1326794091
NM_030777.4(SLC2A10):c.54T>A (p.Gly18=)
NM_030777.4(SLC2A10):c.557C>T (p.Pro186Leu)
NM_030777.4(SLC2A10):c.560C>T (p.Ala187Val) rs774586340
NM_030777.4(SLC2A10):c.56dup (p.Leu20fs)
NM_030777.4(SLC2A10):c.579A>G (p.Ala193=)
NM_030777.4(SLC2A10):c.58C>T (p.Leu20=)
NM_030777.4(SLC2A10):c.597C>A (p.Ile199=)
NM_030777.4(SLC2A10):c.5G>C (p.Gly2Ala) rs1555887782
NM_030777.4(SLC2A10):c.609A>G (p.Gly203=)
NM_030777.4(SLC2A10):c.611G>A (p.Gly204Asp) rs1555887956
NM_030777.4(SLC2A10):c.615G>A (p.Glu205=) rs2123046162
NM_030777.4(SLC2A10):c.617C>T (p.Ala206Val) rs879052180
NM_030777.4(SLC2A10):c.621C>A (p.Pro207=)
NM_030777.4(SLC2A10):c.621C>G (p.Pro207=) rs1222577461
NM_030777.4(SLC2A10):c.625C>T (p.Leu209=) rs748662135
NM_030777.4(SLC2A10):c.628G>T (p.Gly210Cys)
NM_030777.4(SLC2A10):c.632C>G (p.Pro211Arg)
NM_030777.4(SLC2A10):c.632C>T (p.Pro211Leu) rs151324893
NM_030777.4(SLC2A10):c.639G>A (p.Arg213=)
NM_030777.4(SLC2A10):c.645G>C (p.Arg215=) rs367742782
NM_030777.4(SLC2A10):c.65T>G (p.Phe22Cys) rs1060502313
NM_030777.4(SLC2A10):c.673C>T (p.Arg225Cys) rs199659394
NM_030777.4(SLC2A10):c.675C>T (p.Arg225=)
NM_030777.4(SLC2A10):c.68G>T (p.Gly23Val)
NM_030777.4(SLC2A10):c.699A>C (p.Thr233=)
NM_030777.4(SLC2A10):c.699A>G (p.Thr233=)
NM_030777.4(SLC2A10):c.712C>T (p.Leu238=)
NM_030777.4(SLC2A10):c.71A>T (p.Tyr24Phe) rs886056724
NM_030777.4(SLC2A10):c.731_734del (p.Leu244fs) rs864309481
NM_030777.4(SLC2A10):c.736G>A (p.Gly246Arg) rs1568985955
NM_030777.4(SLC2A10):c.739C>A (p.Gln247Lys)
NM_030777.4(SLC2A10):c.747C>T (p.Asn249=)
NM_030777.4(SLC2A10):c.756C>A (p.Cys252Ter) rs864309478
NM_030777.4(SLC2A10):c.774C>T (p.Phe258=)
NM_030777.4(SLC2A10):c.797G>A (p.Gly266Glu) rs369484751
NM_030777.4(SLC2A10):c.801C>T (p.Ser267=)
NM_030777.4(SLC2A10):c.816C>A (p.Ala272=)
NM_030777.4(SLC2A10):c.816C>T (p.Ala272=) rs148058006
NM_030777.4(SLC2A10):c.82G>A (p.Val28Ile)
NM_030777.4(SLC2A10):c.831C>A (p.Gly277=) rs142697617
NM_030777.4(SLC2A10):c.831C>T (p.Gly277=) rs142697617
NM_030777.4(SLC2A10):c.851C>A (p.Thr284Asn) rs765689972
NM_030777.4(SLC2A10):c.897G>A (p.Leu299=) rs1979908015
NM_030777.4(SLC2A10):c.897G>C (p.Leu299=)
NM_030777.4(SLC2A10):c.899T>G (p.Leu300Trp)
NM_030777.4(SLC2A10):c.8A>C (p.His3Pro) rs1254965156
NM_030777.4(SLC2A10):c.901C>T (p.Leu301=)
NM_030777.4(SLC2A10):c.905C>G (p.Ala302Gly)
NM_030777.4(SLC2A10):c.930C>T (p.Ser310=)
NM_030777.4(SLC2A10):c.95C>G (p.Ala32Gly)
NM_030777.4(SLC2A10):c.961del (p.Val321fs) rs587776599
NM_030777.4(SLC2A10):c.965C>T (p.Pro322Leu) rs886056726
NM_030777.4(SLC2A10):c.976G>C (p.Gly326Arg) rs1445963609
NM_030777.4(SLC2A10):c.977G>A (p.Gly326Asp)
NM_030777.4(SLC2A10):c.979C>A (p.Pro327Thr)
NM_030777.4(SLC2A10):c.991G>T (p.Ala331Ser) rs2123049348
NM_030777.4(SLC2A10):c.996G>A (p.Val332=)
NM_152281.2(GORAB):c.-1_1delGAinsCT (p.Met(?_1)_Met1(?)) rs1557999318
NM_152281.2(GORAB):c.3G>A (p.Met1Ile) rs769937320
NM_152281.3(GORAB):c.*1305T>C rs1330502353
NM_152281.3(GORAB):c.*349G>A rs886045554
NM_152281.3(GORAB):c.*404A>G rs1308965013
NM_152281.3(GORAB):c.*612A>G rs1650226571
NM_152281.3(GORAB):c.*771A>T rs886045557
NM_152281.3(GORAB):c.-24T>C
NM_152281.3(GORAB):c.1003del (p.Ser335fs)
NM_152281.3(GORAB):c.103C>T (p.Arg35Ter)
NM_152281.3(GORAB):c.118C>T (p.Arg40Ter) rs369967804
NM_152281.3(GORAB):c.190C>T (p.Gln64Ter) rs1461050152
NM_152281.3(GORAB):c.1A>G (p.Met1Val)
NM_152281.3(GORAB):c.231dup (p.Pro78fs) rs1571243797
NM_152281.3(GORAB):c.236C>G (p.Pro79Arg)
NM_152281.3(GORAB):c.257del (p.Pro86fs)
NM_152281.3(GORAB):c.282C>G (p.Pro94=) rs767686838
NM_152281.3(GORAB):c.287del (p.Gly96fs)
NM_152281.3(GORAB):c.316C>T (p.Gln106Ter)
NM_152281.3(GORAB):c.340A>T (p.Asn114Tyr)
NM_152281.3(GORAB):c.408G>C (p.Lys136Asn) rs964155812
NM_152281.3(GORAB):c.408_409del (p.Lys137fs) rs1085307068
NM_152281.3(GORAB):c.521+2T>G
NM_152281.3(GORAB):c.560G>A (p.Arg187Gln) rs190557815
NM_152281.3(GORAB):c.596T>G (p.Val199Gly) rs764819857
NM_152281.3(GORAB):c.5del (p.Ala2fs) rs1571232872
NM_152281.3(GORAB):c.61G>T (p.Asp21Tyr) rs1648727549
NM_152281.3(GORAB):c.658G>C (p.Ala220Pro) rs183596463
NM_152281.3(GORAB):c.662+5G>C rs1330106644
NM_152281.3(GORAB):c.668G>C (p.Arg223Pro) rs564838793
NM_152281.3(GORAB):c.859G>T (p.Val287Leu)
NM_206943.4(LTBP1):c.1342C>T (p.Gln448Ter) rs1441358067
NM_206943.4(LTBP1):c.2959G>A (p.Gly987Arg)
NM_206943.4(LTBP1):c.3991dup (p.Thr1331fs) rs2149767574
NM_206943.4(LTBP1):c.4431T>A (p.Cys1477Ter) rs2150084747
NM_206943.4(LTBP1):c.4793_4794del (p.Glu1598fs) rs2150575155
NM_206943.4(LTBP1):c.4844del (p.Asn1615fs) rs2150785723

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