NM_001130682.3(GUCY1A1):c.1074A>G (p.Lys358=)
|
rs11944673
|
0.97422
|
NM_001141945.3(ACTA2):c.-24+157C>T
|
rs2274355
|
0.03855
|
NM_000043.6(FAS):c.-34A>G
|
rs5030766
|
0.02841
|
NM_001256071.3(RNF213):c.13590G>A (p.Ala4530=)
|
rs61739536
|
0.01687
|
NM_001256071.3(RNF213):c.10727-4A>G
|
rs116007874
|
0.01549
|
NM_001256071.3(RNF213):c.13195G>A (p.Ala4399Thr)
|
rs148731719
|
0.00799
|
NM_001256071.3(RNF213):c.14194A>G (p.Lys4732Glu)
|
rs12944385
|
0.00750
|
NM_001256071.3(RNF213):c.10443G>A (p.Ala3481=)
|
rs116677277
|
0.00739
|
NM_001256071.3(RNF213):c.1110A>G (p.Ala370=)
|
rs141921176
|
0.00436
|
NM_001141945.3(ACTA2):c.-24+357C>T
|
rs9658677
|
0.00433
|
NM_001256071.3(RNF213):c.5114C>A (p.Thr1705Lys)
|
rs147868237
|
0.00389
|
NM_001141945.3(ACTA2):c.-24+409G>A
|
rs56220100
|
0.00346
|
NM_020893.6(CCDC180):c.2935C>T (p.Arg979Trp)
|
rs183800704
|
0.00319
|
NM_001256071.3(RNF213):c.3404C>T (p.Ala1135Val)
|
rs201493500
|
0.00317
|
NM_001613.4(ACTA2):c.417G>A (p.Gln139=)
|
rs111265233
|
0.00305
|
NM_003176.4(SYCP1):c.260A>G (p.Tyr87Cys)
|
rs146221635
|
0.00273
|
NM_052905.4(FMNL2):c.3231T>G (p.Phe1077Leu)
|
rs182064759
|
0.00228
|
NM_001256071.3(RNF213):c.352T>C (p.Cys118Arg)
|
rs201620985
|
0.00187
|
NM_001256071.3(RNF213):c.5530G>A (p.Ala1844Thr)
|
rs545060242
|
0.00160
|
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser)
|
rs145259927
|
0.00137
|
NM_002486.5(NCBP1):c.373G>A (p.Val125Met)
|
rs143745791
|
0.00132
|
NM_001256071.3(RNF213):c.5162C>T (p.Pro1721Leu)
|
rs189765261
|
0.00109
|
NM_001256071.3(RNF213):c.13782G>A (p.Ala4594=)
|
rs145076497
|
0.00108
|
NM_001256071.3(RNF213):c.305C>G (p.Ser102Cys)
|
rs143184273
|
0.00103
|
NM_001256071.3(RNF213):c.397C>A (p.Leu133Met)
|
rs149177904
|
0.00099
|
NM_001256071.3(RNF213):c.626T>A (p.Ile209Asn)
|
rs144769597
|
0.00099
|
NM_001256071.3(RNF213):c.12055C>T (p.Arg4019Cys)
|
rs139265462
|
0.00061
|
NM_001613.4(ACTA2):c.*28A>T
|
rs143005546
|
0.00054
|
NM_001256071.3(RNF213):c.12648G>A (p.Glu4216=)
|
rs146731742
|
0.00033
|
NM_000043.6(FAS):c.-10C>A
|
rs200181814
|
0.00019
|
NM_001256071.3(RNF213):c.15487G>A (p.Val5163Ile)
|
rs201733659
|
0.00018
|
NM_001256071.3(RNF213):c.4865C>T (p.Ala1622Val)
|
rs534665632
|
0.00018
|
NM_001256071.3(RNF213):c.14195A>C (p.Lys4732Thr)
|
rs148776624
|
0.00016
|
NR_125373.1(ACTA2-AS1):n.690C>T
|
rs367977687
|
0.00016
|
NM_001130682.3(GUCY1A1):c.1687G>A (p.Val563Ile)
|
rs746640449
|
0.00009
|
NM_001130682.3(GUCY1A1):c.630C>T (p.Thr210=)
|
rs138687424
|
0.00008
|
NM_001256071.3(RNF213):c.11765G>A (p.Arg3922Gln)
|
rs766292366
|
0.00004
|
NM_001256071.3(RNF213):c.13918G>A (p.Gly4640Ser)
|
rs138223459
|
0.00004
|
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys)
|
rs112735431
|
0.00004
|
NM_001256071.3(RNF213):c.10063G>A (p.Glu3355Lys)
|
rs753076389
|
0.00003
|
NM_001613.4(ACTA2):c.648G>A (p.Glu216=)
|
rs775575485
|
0.00003
|
NM_001613.4(ACTA2):c.977C>A (p.Thr326Asn)
|
rs777832794
|
0.00003
|
NM_001256071.3(RNF213):c.1015C>T (p.Leu339Phe)
|
rs906213655
|
0.00002
|
NM_001256071.3(RNF213):c.11537G>A (p.Arg3846His)
|
rs1321156693
|
0.00002
|
NM_001256071.3(RNF213):c.12124G>A (p.Glu4042Lys)
|
rs1241745586
|
0.00002
|
NM_001256071.3(RNF213):c.12711C>G (p.Asp4237Glu)
|
rs773785078
|
0.00002
|
NM_001613.4(ACTA2):c.129+5G>A
|
rs373402293
|
0.00002
|
NM_001613.4(ACTA2):c.369+7A>G
|
rs760471677
|
0.00002
|
NM_001130682.3(GUCY1A1):c.1045C>T (p.Arg349Ter)
|
rs587777321
|
0.00001
|
NM_001130682.3(GUCY1A1):c.1086+1G>T
|
rs587777320
|
0.00001
|
NM_001130682.3(GUCY1A1):c.1258C>T (p.Arg420Ter)
|
rs373182378
|
0.00001
|
NM_001256071.3(RNF213):c.12037G>A (p.Asp4013Asn)
|
rs397514563
|
0.00001
|
NM_001256071.3(RNF213):c.12098C>T (p.Pro4033Leu)
|
rs778482758
|
0.00001
|
NM_001256071.3(RNF213):c.12226A>G (p.Ile4076Val)
|
rs746280089
|
0.00001
|
NM_001256071.3(RNF213):c.12391C>T (p.Arg4131Cys)
|
rs556513891
|
0.00001
|
NM_001256071.3(RNF213):c.14729T>C (p.Val4910Ala)
|
rs1253832723
|
0.00001
|
NM_001256071.3(RNF213):c.1837G>T (p.Asp613Tyr)
|
rs1383472329
|
0.00001
|
NM_001256071.3(RNF213):c.2743C>T (p.Arg915Ter)
|
rs750596095
|
0.00001
|
NM_001613.4(ACTA2):c.107T>C (p.Ile36Thr)
|
rs772919504
|
0.00001
|
NM_001613.4(ACTA2):c.296C>G (p.Ala99Gly)
|
rs779757924
|
0.00001
|
NM_001613.4(ACTA2):c.553C>T (p.Arg185Ter)
|
rs772473154
|
0.00001
|
NM_001613.4(ACTA2):c.689C>G (p.Ala230Gly)
|
rs757461793
|
0.00001
|
NM_001613.4(ACTA2):c.772C>T (p.Arg258Cys)
|
rs121434528
|
0.00001
|
GRCh37/hg19 Xq28(chrX:148882560-149686856)x2
|
|
|
GRCh37/hg19 Xq28(chrX:154305031-154307464)
|
|
|
NC_000017.11:g.80392616_80422726del
|
|
|
NM_001001662.3(ZNF782):c.962G>A (p.Arg321His)
|
rs146058964
|
|
NM_001114753.3(ENG):c.1928G>A (p.Ser643Asn)
|
|
|
NM_001130682.3(GUCY1A1):c.1086+1G>A
|
rs587777320
|
|
NM_001130682.3(GUCY1A1):c.1170del (p.Glu391fs)
|
rs587777322
|
|
NM_001130682.3(GUCY1A1):c.1422del (p.Lys475fs)
|
|
|
NM_001130682.3(GUCY1A1):c.1535G>A (p.Arg512His)
|
rs369215353
|
|
NM_001130682.3(GUCY1A1):c.1550G>A (p.Cys517Tyr)
|
rs751701114
|
|
NM_001130682.3(GUCY1A1):c.1954G>T (p.Gly652Ter)
|
rs1368733883
|
|
NM_001130682.3(GUCY1A1):c.334_335del (p.Glu112fs)
|
rs781020381
|
|
NM_001141945.3(ACTA2):c.-23-3869A>G
|
rs886047455
|
|
NM_001141945.3(ACTA2):c.-24+236C>T
|
rs886047457
|
|
NM_001141945.3(ACTA2):c.-24+399C>T
|
rs886047456
|
|
NM_001141945.3(ACTA2):c.-24+414_-24+415del
|
rs553556054
|
|
NM_001256071.3(RNF213):c.11779G>A (p.Ala3927Thr)
|
rs777402744
|
|
NM_001256071.3(RNF213):c.11797G>A (p.Val3933Met)
|
rs1181813391
|
|
NM_001256071.3(RNF213):c.1184C>T (p.Pro395Leu)
|
rs1555645286
|
|
NM_001256071.3(RNF213):c.11986_11989delinsGGGTTAG (p.Pro3996_Cys3997delinsGlyLeuGly)
|
rs2144460572
|
|
NM_001256071.3(RNF213):c.11990G>A (p.Cys3997Tyr)
|
rs797045189
|
|
NM_001256071.3(RNF213):c.11999G>A (p.Cys4000Tyr)
|
|
|
NM_001256071.3(RNF213):c.12022G>A (p.Val4008Ile)
|
rs762259446
|
|
NM_001256071.3(RNF213):c.12040C>A (p.His4014Asn)
|
rs1555675538
|
|
NM_001256071.3(RNF213):c.12050G>A (p.Cys4017Tyr)
|
|
|
NM_001256071.3(RNF213):c.12059G>T (p.Cys4020Phe)
|
rs1599150380
|
|
NM_001256071.3(RNF213):c.12094T>C (p.Cys4032Arg)
|
rs1555675572
|
|
NM_001256071.3(RNF213):c.12152A>C (p.His4051Pro)
|
rs1555675612
|
|
NM_001256071.3(RNF213):c.12185G>A (p.Arg4062Gln)
|
rs1555676035
|
|
NM_001256071.3(RNF213):c.12341C>G (p.Thr4114Arg)
|
rs2079442813
|
|
NM_001256071.3(RNF213):c.12343_12345del (p.Lys4115del)
|
rs797045187
|
|
NM_001256071.3(RNF213):c.12353C>T (p.Ser4118Phe)
|
rs2079443410
|
|
NM_001256071.3(RNF213):c.12365A>T (p.Asp4122Val)
|
rs1555676146
|
|
NM_001256071.3(RNF213):c.12553A>G (p.Lys4185Glu)
|
rs1568149971
|
|
NM_001256071.3(RNF213):c.12562G>A (p.Ala4188Thr)
|
rs1568149984
|
|
NM_001256071.3(RNF213):c.12942+97del
|
rs142169239
|
|
NM_001256071.3(RNF213):c.13062G>C (p.Lys4354Asn)
|
rs2144536464
|
|
NM_001256071.3(RNF213):c.13747C>T (p.Arg4583Trp)
|
rs1599190981
|
|
NM_001256071.3(RNF213):c.13822C>T (p.Pro4608Ser)
|
rs1356925198
|
|
NM_001256071.3(RNF213):c.13997C>T (p.Thr4666Ile)
|
rs2080083465
|
|
NM_001256071.3(RNF213):c.14822T>A (p.Val4941Glu)
|
|
|
NM_001256071.3(RNF213):c.14850_14851insGGCAAACAGAGCGTGCAGCAG (p.Glu4950_Phe4951insGlyLysGlnSerValGlnGln)
|
rs797045188
|
|
NM_001256071.3(RNF213):c.15290C>T (p.Pro5097Leu)
|
|
|
NM_001256071.3(RNF213):c.1587_1589del (p.Ala531del)
|
rs797045186
|
|
NM_001256071.3(RNF213):c.1699A>G (p.Met567Val)
|
|
|
NM_001256071.3(RNF213):c.2812-3C>G
|
|
|
NM_001256071.3(RNF213):c.2875G>T (p.Gly959Ter)
|
rs546643996
|
|
NM_001256071.3(RNF213):c.6169G>A (p.Asp2057Asn)
|
rs768740459
|
|
NM_001256071.3(RNF213):c.9844_9846del (p.Trp3282del)
|
|
|
NM_001267571.2(TBC1D2):c.2261C>A (p.Thr754Lys)
|
rs774546155
|
|
NM_001613.4(ACTA2):c.*122T>C
|
rs886047451
|
|
NM_001613.4(ACTA2):c.129+4A>G
|
rs1390177518
|
|
NM_001613.4(ACTA2):c.290G>A (p.Arg97His)
|
|
|
NM_001613.4(ACTA2):c.323C>T (p.Thr108Met)
|
rs886038789
|
|
NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln)
|
rs112602953
|
|
NM_001613.4(ACTA2):c.536G>A (p.Arg179His)
|
rs387906592
|
|
NM_001613.4(ACTA2):c.641T>C (p.Ile214Thr)
|
rs1845812659
|
|
NM_001613.4(ACTA2):c.773G>A (p.Arg258His)
|
rs121434527
|
|
NM_001613.4(ACTA2):c.78C>A (p.Asp26Glu)
|
rs141538225
|
|
NM_018043.7(ANO1):c.1972A>G (p.Met658Val)
|
|
|
NM_018043.7(ANO1):c.2219C>T (p.Thr740Ile)
|
|
|
NM_018043.7(ANO1):c.508G>A (p.Glu170Lys)
|
|
|
NM_018676.4(THSD1):c.1021+5G>A
|
|
|
NM_018676.4(THSD1):c.1348C>T (p.Arg450Ter)
|
rs1594095223
|
|