NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter)
|
rs72653706
|
0.00122
|
NM_016938.5(EFEMP2):c.409A>T (p.Ser137Cys)
|
rs1306393544
|
0.00022
|
NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys)
|
rs121918376
|
0.00014
|
NM_003573.2(LTBP4):c.254del (p.Leu85fs)
|
rs747013505
|
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_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys)
|
rs762742204
|
0.00009
|
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_002860.4(ALDH18A1):c.2345A>G (p.Tyr782Cys)
|
rs774047299
|
0.00006
|
NM_006907.4(PYCR1):c.752G>A (p.Arg251His)
|
rs121918378
|
0.00006
|
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_006907.4(PYCR1):c.535G>A (p.Ala179Thr)
|
rs139751598
|
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_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln)
|
rs537043237
|
0.00002
|
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln)
|
rs121434582
|
0.00002
|
NM_006907.4(PYCR1):c.540+1G>A
|
rs752297179
|
0.00002
|
NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter)
|
rs370547023
|
0.00002
|
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln)
|
rs771028960
|
0.00002
|
NM_152281.3(GORAB):c.367G>T (p.Glu123Ter)
|
rs119455951
|
0.00002
|
NM_001042545.2(LTBP4):c.1252C>T (p.Arg418Ter)
|
rs397515430
|
0.00001
|
NM_002860.4(ALDH18A1):c.1923+1G>A
|
rs863223315
|
0.00001
|
NM_002860.4(ALDH18A1):c.2246G>A (p.Arg749Gln)
|
rs748925635
|
0.00001
|
NM_002860.4(ALDH18A1):c.383G>A (p.Arg128His)
|
rs768323248
|
0.00001
|
NM_002860.4(ALDH18A1):c.754C>T (p.Arg252Ter)
|
rs758543218
|
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_006907.4(PYCR1):c.356G>A (p.Arg119His)
|
rs121918377
|
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_012463.4(ATP6V0A2):c.1514+1G>A
|
rs374480381
|
0.00001
|
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter)
|
rs80356750
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter)
|
rs80356758
|
0.00001
|
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys)
|
rs193302867
|
0.00001
|
NM_016938.5(EFEMP2):c.499G>T (p.Glu167Ter)
|
rs763944898
|
0.00001
|
NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala)
|
rs193302864
|
0.00001
|
NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys)
|
rs763220502
|
0.00001
|
NM_030777.4(SLC2A10):c.1465G>C (p.Gly489Arg)
|
rs201268555
|
0.00001
|
NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter)
|
rs1015798796
|
0.00001
|
NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter)
|
rs756457861
|
0.00001
|
NM_152281.3(GORAB):c.784C>T (p.Arg262Ter)
|
rs119455952
|
0.00001
|
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
|
|
|
NC_000010.10:g.(?_97376214)_(97376391_?)del
|
|
|
NC_000011.10:g.(?_65871960)_(65872944_?)del
|
|
|
NC_000020.10:g.(?_45357972)_(45358147_?)del
|
|
|
NC_000020.11:g.(?_46709717)_(46733854_?)del
|
|
|
NC_000023.10:g.(?_77227108)_(77227268_?)del
|
|
|
NC_000023.10:g.(?_77227108)_(77258743_?)del
|
|
|
NC_000023.10:g.(?_77243718)_(77245474_?)del
|
|
|
NC_000023.10:g.(?_77264993)_(77268389_?)del
|
|
|
NC_000023.10:g.(?_77266653)_(77271398_?)dup
|
|
|
NC_000023.10:g.(?_77270139)_(77271398_?)del
|
|
|
NC_000023.10:g.(?_77271231)_(77271398_?)del
|
|
|
NC_000023.10:g.(?_77275721)_(77279056_?)del
|
|
|
NC_000023.10:g.(?_77300947)_(77302067_?)del
|
|
|
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter)
|
rs72554636
|
|
NM_000052.7(ATP7A):c.1273del (p.Leu424_Leu425insTer)
|
rs2077660153
|
|
NM_000052.7(ATP7A):c.1285G>T (p.Glu429Ter)
|
|
|
NM_000052.7(ATP7A):c.1537G>T (p.Glu513Ter)
|
rs1569549699
|
|
NM_000052.7(ATP7A):c.1544-872C>G
|
|
|
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter)
|
rs797045332
|
|
NM_000052.7(ATP7A):c.169C>T (p.Gln57Ter)
|
|
|
NM_000052.7(ATP7A):c.1707+6T>A
|
rs797045334
|
|
NM_000052.7(ATP7A):c.1870-1G>C
|
rs797045338
|
|
NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter)
|
rs797045339
|
|
NM_000052.7(ATP7A):c.1910C>T (p.Ser637Leu)
|
rs151340631
|
|
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter)
|
rs72554640
|
|
NM_000052.7(ATP7A):c.1945C>T (p.Gln649Ter)
|
|
|
NM_000052.7(ATP7A):c.1946+1G>T
|
rs797045340
|
|
NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg)
|
rs797045344
|
|
NM_000052.7(ATP7A):c.2053C>T (p.Gln685Ter)
|
|
|
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg)
|
rs72554644
|
|
NM_000052.7(ATP7A):c.2186G>A (p.Trp729Ter)
|
rs2149095968
|
|
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter)
|
rs72554645
|
|
NM_000052.7(ATP7A):c.2446del (p.Gln816fs)
|
|
|
NM_000052.7(ATP7A):c.2467del (p.Ile822_Val823insTer)
|
rs1569549974
|
|
NM_000052.7(ATP7A):c.2497A>G (p.Ser833Gly)
|
rs2149096859
|
|
NM_000052.7(ATP7A):c.2576A>G (p.Asp859Gly)
|
rs2077859082
|
|
NM_000052.7(ATP7A):c.2663del (p.Thr888fs)
|
rs2077896094
|
|
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter)
|
rs72554649
|
|
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter)
|
rs72554650
|
|
NM_000052.7(ATP7A):c.3111G>T (p.Lys1037Asn)
|
|
|
NM_000052.7(ATP7A):c.3250dup (p.Ser1084fs)
|
rs1603389393
|
|
NM_000052.7(ATP7A):c.3294+1G>A
|
rs797045374
|
|
NM_000052.7(ATP7A):c.3473C>A (p.Ser1158Ter)
|
rs1557237451
|
|
NM_000052.7(ATP7A):c.3526C>T (p.Gln1176Ter)
|
rs2078030304
|
|
NM_000052.7(ATP7A):c.3560G>A (p.Trp1187Ter)
|
rs2149109587
|
|
NM_000052.7(ATP7A):c.3868C>T (p.Gln1290Ter)
|
rs1603391120
|
|
NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser)
|
rs151340632
|
|
NM_000052.7(ATP7A):c.4027del (p.Ala1343fs)
|
rs2078061940
|
|
NM_000052.7(ATP7A):c.4153C>T (p.Gln1385Ter)
|
|
|
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser)
|
rs267606672
|
|
NM_000052.7(ATP7A):c.422_423del (p.Glu141fs)
|
rs797045397
|
|
NM_000052.7(ATP7A):c.4352del (p.Gly1451fs)
|
rs1569550376
|
|
NM_000052.7(ATP7A):c.453del (p.Thr152fs)
|
rs1603381331
|
|
NM_000052.7(ATP7A):c.462dup (p.Lys155fs)
|
rs2077652014
|
|
NM_000052.7(ATP7A):c.466_467insC (p.Lys156fs)
|
|
|
NM_000052.7(ATP7A):c.499C>T (p.Gln167Ter)
|
|
|
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter)
|
rs151340633
|
|
NM_000052.7(ATP7A):c.657_661del (p.Ile220fs)
|
|
|
NM_000052.7(ATP7A):c.802C>T (p.Gln268Ter)
|
rs2149083118
|
|
NM_000052.7(ATP7A):c.870_871del (p.Ser293fs)
|
|
|
NM_000052.7(ATP7A):c.897del (p.Leu299fs)
|
|
|
NM_000501.4(ELN):c.1621C>T (p.Arg541Ter)
|
rs137854453
|
|
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_001039348.3(EFEMP1):c.1201C>T (p.Arg401Ter)
|
rs2104369155
|
|
NM_001042545.2(LTBP4):c.1360del (p.Arg454fs)
|
rs1307726290
|
|
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.2481C>A (p.Cys827Ter)
|
rs267607228
|
|
NM_001042545.2(LTBP4):c.3464del (p.Gln1155fs)
|
rs606231159
|
|
NM_001042545.2(LTBP4):c.4025dup (p.Tyr1343fs)
|
rs797044471
|
|
NM_001042545.2(LTBP4):c.4037dup (p.Arg1347fs)
|
rs606231161
|
|
NM_001042545.2(LTBP4):c.4039C>T (p.Arg1347Ter)
|
rs1382026467
|
|
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_001690.4(ATP6V1A):c.1012C>T (p.Arg338Cys)
|
rs1060505036
|
|
NM_001690.4(ATP6V1A):c.215G>A (p.Gly72Asp)
|
rs1060505037
|
|
NM_001696.4(ATP6V1E1):c.383T>C (p.Leu128Pro)
|
rs1060505031
|
|
NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp)
|
rs1028534806
|
|
NM_002860.4(ALDH18A1):c.1227dup (p.Asp410fs)
|
|
|
NM_002860.4(ALDH18A1):c.1321C>T (p.Arg441Ter)
|
rs145289559
|
|
NM_002860.4(ALDH18A1):c.1499G>T (p.Gly500Val)
|
rs1194593234
|
|
NM_002860.4(ALDH18A1):c.1713dup (p.Lys572Ter)
|
|
|
NM_002860.4(ALDH18A1):c.177del (p.Lys59fs)
|
rs1555264243
|
|
NM_002860.4(ALDH18A1):c.1795del (p.Arg599fs)
|
|
|
NM_002860.4(ALDH18A1):c.1802-4_1924-902delinsG
|
|
|
NM_002860.4(ALDH18A1):c.1804del (p.Arg602fs)
|
|
|
NM_002860.4(ALDH18A1):c.1993C>T (p.Arg665Ter)
|
|
|
NM_002860.4(ALDH18A1):c.2117_2118del (p.Thr706fs)
|
|
|
NM_002860.4(ALDH18A1):c.2131del (p.Leu711fs)
|
rs587777858
|
|
NM_002860.4(ALDH18A1):c.2350C>T (p.His784Tyr)
|
rs121434583
|
|
NM_002860.4(ALDH18A1):c.339del (p.Met113fs)
|
|
|
NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala)
|
rs863224945
|
|
NM_002860.4(ALDH18A1):c.401C>T (p.Ser134Phe)
|
rs2139621988
|
|
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.545del (p.Ile182fs)
|
|
|
NM_002860.4(ALDH18A1):c.741del (p.Asp247fs)
|
rs1555262375
|
|
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln)
|
rs864321670
|
|
NM_006329.3(FBLN5):c.380-9061_873dup
|
|
|
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.649T>C (p.Cys217Arg)
|
rs80338766
|
|
NM_006329.4(FBLN5):c.679T>C (p.Ser227Pro)
|
rs28939370
|
|
NM_006907.4(PYCR1):c.11G>T (p.Gly4Val)
|
rs1598358440
|
|
NM_006907.4(PYCR1):c.11del (p.Gly4fs)
|
rs1598358449
|
|
NM_006907.4(PYCR1):c.345del (p.Arg116fs)
|
rs758601634
|
|
NM_006907.4(PYCR1):c.355C>G (p.Arg119Gly)
|
rs121918376
|
|
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+2T>A
|
rs2041207320
|
|
NM_006907.4(PYCR1):c.797+2_797+5del
|
rs1371235353
|
|
NM_012463.4(ATP6V0A2):c.1002del (p.Leu335fs)
|
rs1956563926
|
|
NM_012463.4(ATP6V0A2):c.2176-3_2176-2del
|
rs367543007
|
|
NM_012463.4(ATP6V0A2):c.2231_2255dup (p.Tyr753fs)
|
rs1220385043
|
|
NM_012463.4(ATP6V0A2):c.2356_2362del (p.Gly786fs)
|
rs1566294545
|
|
NM_012463.4(ATP6V0A2):c.294+1G>A
|
rs80356751
|
|
NM_012463.4(ATP6V0A2):c.535del (p.Gly178_Leu179insTer)
|
rs1956462432
|
|
NM_016938.5(EFEMP2):c.1070_1073dup (p.Asp359fs)
|
rs193302865
|
|
NM_016938.5(EFEMP2):c.1189G>A (p.Ala397Thr)
|
rs193302868
|
|
NM_016938.5(EFEMP2):c.169G>A (p.Glu57Lys)
|
rs119489101
|
|
NM_016938.5(EFEMP2):c.290dup (p.Pro98fs)
|
|
|
NM_016938.5(EFEMP2):c.338_339del (p.Gly112_Tyr113insTer)
|
|
|
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.481G>A (p.Glu161Lys)
|
rs761656636
|
|
NM_016938.5(EFEMP2):c.577del (p.Gln193fs)
|
rs193302870
|
|
NM_016938.5(EFEMP2):c.679C>T (p.Arg227Cys)
|
rs397514683
|
|
NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr)
|
rs193302866
|
|
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys)
|
rs119489102
|
|
NM_016938.5(EFEMP2):c.859dup (p.Cys287fs)
|
|
|
NM_016938.5(EFEMP2):c.861T>A (p.Cys287Ter)
|
rs1044449024
|
|
NM_016938.5(EFEMP2):c.917dup (p.Tyr307fs)
|
|
|
NM_016938.5(EFEMP2):c.919_952dup (p.Pro318fs)
|
rs2134747667
|
|
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_030777.4(SLC2A10):c.10del (p.Ser4fs)
|
|
|
NM_030777.4(SLC2A10):c.1334del (p.Gly445fs)
|
rs587776600
|
|
NM_030777.4(SLC2A10):c.1424T>A (p.Leu475Ter)
|
rs2123062030
|
|
NM_030777.4(SLC2A10):c.1A>G (p.Met1Val)
|
|
|
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg)
|
rs80358230
|
|
NM_030777.4(SLC2A10):c.289del (p.Ser97fs)
|
|
|
NM_030777.4(SLC2A10):c.343_832delinsC (p.Ser115_Ala278delinsPro)
|
|
|
NM_030777.4(SLC2A10):c.473_476del (p.Ala158fs)
|
rs2123045055
|
|
NM_030777.4(SLC2A10):c.483del (p.Trp162fs)
|
rs2123045187
|
|
NM_030777.4(SLC2A10):c.485G>A (p.Trp162Ter)
|
rs2123045274
|
|
NM_030777.4(SLC2A10):c.510G>A (p.Trp170Ter)
|
rs80358229
|
|
NM_030777.4(SLC2A10):c.961del (p.Val321fs)
|
rs587776599
|
|
NM_152281.2(GORAB):c.-1_1delGAinsCT (p.Met(?_1)_Met1(?))
|
rs1557999318
|
|
NM_152281.3(GORAB):c.103C>T (p.Arg35Ter)
|
|
|
NM_152281.3(GORAB):c.190C>T (p.Gln64Ter)
|
rs1461050152
|
|
NM_152281.3(GORAB):c.231dup (p.Pro78fs)
|
rs1571243797
|
|
NM_152281.3(GORAB):c.658G>C (p.Ala220Pro)
|
rs183596463
|
|
NM_152281.3(GORAB):c.662+5G>C
|
rs1330106644
|
|
NM_206943.4(LTBP1):c.1342C>T (p.Gln448Ter)
|
rs1441358067
|
|
NM_206943.4(LTBP1):c.3991dup (p.Thr1331fs)
|
rs2149767574
|
|
NM_206943.4(LTBP1):c.4431T>A (p.Cys1477Ter)
|
rs2150084747
|
|
NM_206943.4(LTBP1):c.4844del (p.Asn1615fs)
|
rs2150785723
|
|