NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)
|
rs121908173
|
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.1276G>T (p.Gly426Trp)
|
rs121908172
|
0.00004
|
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln)
|
rs121434582
|
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.991A>C (p.Thr331Pro)
|
rs765380273
|
0.00001
|
NM_006907.4(PYCR1):c.356G>A (p.Arg119His)
|
rs121918377
|
0.00001
|
NM_006907.4(PYCR1):c.743G>A (p.Gly248Glu)
|
rs281875319
|
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.608A>C (p.Asp203Ala)
|
rs193302864
|
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
|
|
|
NM_000052.7(ATP7A):c.1707+6T>A
|
rs797045334
|
|
NM_000052.7(ATP7A):c.1910C>T (p.Ser637Leu)
|
rs151340631
|
|
NM_000052.7(ATP7A):c.2497A>G (p.Ser833Gly)
|
rs2149096859
|
|
NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser)
|
rs151340632
|
|
NM_000052.7(ATP7A):c.4352del (p.Gly1451fs)
|
rs1569550376
|
|
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_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.701del (p.Pro234fs)
|
rs606231160
|
|
NM_001042545.2(LTBP4):c.730T>G (p.Cys244Gly)
|
rs267607229
|
|
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.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.177del (p.Lys59fs)
|
rs1555264243
|
|
NM_002860.4(ALDH18A1):c.1802-4_1924-902delinsG
|
|
|
NM_002860.4(ALDH18A1):c.2131del (p.Leu711fs)
|
rs587777858
|
|
NM_002860.4(ALDH18A1):c.2350C>T (p.His784Tyr)
|
rs121434583
|
|
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_006329.3(FBLN5):c.380-9061_873dup
|
|
|
NM_006329.4(FBLN5):c.1171G>T (p.Glu391Ter)
|
rs80338767
|
|
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.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.797+2_797+5del
|
rs1371235353
|
|
NM_012463.4(ATP6V0A2):c.2356_2362del (p.Gly786fs)
|
rs1566294545
|
|
NM_012463.4(ATP6V0A2):c.294+1G>A
|
rs80356751
|
|
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.377A>T (p.Glu126Val)
|
rs193302869
|
|
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_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.1334del (p.Gly445fs)
|
rs587776600
|
|
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg)
|
rs80358230
|
|
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.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
|
|