NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val)
|
rs601314
|
0.89787
|
NM_000501.4(ELN):c.1358-199G>A
|
rs781963901
|
0.00034
|
NM_006907.4(PYCR1):c.508G>A (p.Val170Ile)
|
rs199585131
|
0.00024
|
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser)
|
rs144288844
|
0.00019
|
NM_006329.4(FBLN5):c.604G>A (p.Gly202Arg)
|
rs80338765
|
0.00013
|
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_030777.4(SLC2A10):c.313C>T (p.Arg105Cys)
|
rs767864243
|
0.00005
|
NM_000501.4(ELN):c.92G>A (p.Gly31Glu)
|
rs782625771
|
0.00004
|
NM_001042545.2(LTBP4):c.4024G>A (p.Ala1342Thr)
|
rs370362292
|
0.00004
|
NM_002860.4(ALDH18A1):c.169C>A (p.His57Asn)
|
rs200858692
|
0.00004
|
NM_003573.2(LTBP4):c.172C>T (p.Pro58Ser)
|
rs373445028
|
0.00004
|
NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp)
|
rs121908172
|
0.00004
|
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser)
|
rs782774219
|
0.00003
|
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_001042545.2(LTBP4):c.4184G>A (p.Arg1395Gln)
|
rs1032506558
|
0.00001
|
NM_001042545.2(LTBP4):c.827C>T (p.Pro276Leu)
|
rs760578075
|
0.00001
|
NM_002860.4(ALDH18A1):c.1942C>T (p.Pro648Ser)
|
rs768964431
|
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.1226G>A (p.Arg409Gln)
|
rs61893867
|
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_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.685C>T (p.Arg229Ter)
|
rs756457861
|
0.00001
|
NM_030777.4(SLC2A10):c.737G>A (p.Gly246Glu)
|
rs564317065
|
0.00001
|
GRCh37/hg19 7q11.23(chr7:73475600-73478833)x1
|
|
|
NG_008254.1:g.48570_71295dup22726
|
|
|
NM_001042545.2(LTBP4):c.289G>A (p.Val97Met)
|
|
|
NM_002860.4(ALDH18A1):c.1078+5A>G
|
rs2139591190
|
|
NM_003573.2(LTBP4):c.230+2T>G
|
rs2146012706
|
|
NM_006329.4(FBLN5):c.1090G>T (p.Asp364Tyr)
|
rs1802492
|
|
NM_006329.4(FBLN5):c.1171G>T (p.Glu391Ter)
|
rs80338767
|
|
NM_006329.4(FBLN5):c.432C>G (p.Cys144Trp)
|
|
|
NM_006329.4(FBLN5):c.649T>C (p.Cys217Arg)
|
rs80338766
|
|
NM_006329.4(FBLN5):c.679T>C (p.Ser227Pro)
|
rs28939370
|
|
NM_012463.4(ATP6V0A2):c.1324G>T (p.Glu442Ter)
|
rs80356755
|
|
NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs)
|
rs80356756
|
|
NM_012463.4(ATP6V0A2):c.2302G>A (p.Asp768Asn)
|
rs367543008
|
|
NM_012463.4(ATP6V0A2):c.294+1G>A
|
rs80356751
|
|
NM_012463.4(ATP6V0A2):c.353_354del (p.Leu118fs)
|
rs80356752
|
|
NM_012463.4(ATP6V0A2):c.732-2A>G
|
rs80356753
|
|
NM_012463.4(ATP6V0A2):c.840del (p.Glu281fs)
|
rs80356754
|
|
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.800G>A (p.Cys267Tyr)
|
rs193302866
|
|
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys)
|
rs119489102
|
|
NM_030777.4(SLC2A10):c.1334del (p.Gly445fs)
|
rs587776600
|
|
NM_030777.4(SLC2A10):c.1411+1G>A
|
rs864309479
|
|
NM_030777.4(SLC2A10):c.1411+480_1547+299del
|
|
|
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg)
|
rs80358230
|
|
NM_030777.4(SLC2A10):c.417T>A (p.Tyr139Ter)
|
rs572620317
|
|
NM_030777.4(SLC2A10):c.425G>T (p.Gly142Val)
|
rs864309480
|
|
NM_030777.4(SLC2A10):c.510G>A (p.Trp170Ter)
|
rs80358229
|
|
NM_030777.4(SLC2A10):c.731_734del (p.Leu244fs)
|
rs864309481
|
|
NM_030777.4(SLC2A10):c.756C>A (p.Cys252Ter)
|
rs864309478
|
|
NM_030777.4(SLC2A10):c.961del (p.Val321fs)
|
rs587776599
|
|