NM_001822.7(CHN1):c.886+15G>A
|
rs12613075
|
0.35597
|
NM_001822.7(CHN1):c.-68G>A
|
rs117866326
|
0.01117
|
NM_001822.7(CHN1):c.*677G>A
|
rs192645480
|
0.00835
|
NM_001822.7(CHN1):c.*643A>T
|
rs74780149
|
0.00675
|
NM_001822.7(CHN1):c.*28T>C
|
rs143852940
|
0.00589
|
NM_001822.7(CHN1):c.*564G>A
|
rs144057045
|
0.00155
|
NM_001822.7(CHN1):c.588C>T (p.Asn196=)
|
rs146313212
|
0.00071
|
NM_001822.7(CHN1):c.-36C>T
|
rs775399462
|
0.00063
|
NM_001822.7(CHN1):c.237A>G (p.Pro79=)
|
rs377261893
|
0.00038
|
NM_001822.7(CHN1):c.*635A>C
|
rs562879539
|
0.00026
|
NM_001822.7(CHN1):c.1002A>G (p.Glu334=)
|
rs376051698
|
0.00020
|
NM_005461.5(MAFB):c.542A>T (p.Gln181Leu)
|
rs776350709
|
0.00019
|
NM_001822.7(CHN1):c.*337G>C
|
rs996643545
|
0.00016
|
NM_005461.5(MAFB):c.577C>T (p.His193Tyr)
|
rs771536349
|
0.00015
|
NM_198721.4(COL25A1):c.130G>A (p.Val44Met)
|
rs201162812
|
0.00014
|
NM_001822.7(CHN1):c.628-15C>T
|
rs529028832
|
0.00012
|
NM_001822.7(CHN1):c.*252C>T
|
rs1023136528
|
0.00009
|
NM_001822.7(CHN1):c.*756C>T
|
rs759449440
|
0.00009
|
NM_001822.7(CHN1):c.-271T>C
|
rs543170770
|
0.00006
|
NM_001822.7(CHN1):c.*309G>A
|
rs540973790
|
0.00005
|
NM_001822.7(CHN1):c.-206G>A
|
rs1379842544
|
0.00005
|
NM_001822.7(CHN1):c.1115C>T (p.Pro372Leu)
|
rs765652152
|
0.00005
|
NM_001822.7(CHN1):c.7C>T (p.Leu3=)
|
rs755734334
|
0.00005
|
NM_001822.7(CHN1):c.*426C>T
|
rs755474438
|
0.00004
|
NM_001822.7(CHN1):c.*668T>C
|
rs369718610
|
0.00004
|
NM_001822.7(CHN1):c.177C>T (p.Ala59=)
|
rs771446302
|
0.00004
|
NM_001822.7(CHN1):c.297C>T (p.Tyr99=)
|
rs35358913
|
0.00004
|
NM_001822.7(CHN1):c.500C>T (p.Thr167Ile)
|
rs752956891
|
0.00004
|
NM_005461.5(MAFB):c.393C>A (p.His131Gln)
|
rs121912307
|
0.00004
|
NM_001822.7(CHN1):c.147-4T>G
|
rs767192888
|
0.00003
|
NM_005461.5(MAFB):c.294G>C (p.Glu98Asp)
|
rs374174345
|
0.00003
|
NM_198721.4(COL25A1):c.1144G>A (p.Gly382Arg)
|
rs780209390
|
0.00003
|
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser)
|
rs121912838
|
0.00002
|
NM_001822.7(CHN1):c.-74C>T
|
rs886055155
|
0.00002
|
NM_001822.7(CHN1):c.67C>T (p.Leu23=)
|
rs371593822
|
0.00002
|
NM_001822.7(CHN1):c.964+6T>G
|
rs764237103
|
0.00002
|
NM_005461.5(MAFB):c.617G>A (p.Ser206Asn)
|
rs909242045
|
0.00002
|
NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr)
|
rs1356639316
|
0.00001
|
NM_001822.7(CHN1):c.*154G>A
|
rs529610497
|
0.00001
|
NM_001822.7(CHN1):c.*198A>G
|
rs1198628794
|
0.00001
|
NM_001822.7(CHN1):c.*422C>T
|
rs1294339436
|
0.00001
|
NM_001822.7(CHN1):c.*52T>C
|
rs1211907844
|
0.00001
|
NM_001822.7(CHN1):c.*608A>G
|
rs886055153
|
0.00001
|
NM_001822.7(CHN1):c.*687_*691del
|
rs886055152
|
0.00001
|
NM_001822.7(CHN1):c.1322T>C (p.Ile441Thr)
|
rs552090021
|
0.00001
|
NM_001822.7(CHN1):c.193G>A (p.Val65Met)
|
rs370140469
|
0.00001
|
NM_001822.7(CHN1):c.378T>G (p.Ile126Met)
|
rs121912793
|
0.00001
|
NM_001822.7(CHN1):c.550-4G>A
|
rs972339540
|
0.00001
|
NM_001822.7(CHN1):c.80C>G (p.Ala27Gly)
|
rs1689781072
|
0.00001
|
NM_001822.7(CHN1):c.962G>C (p.Arg321Thr)
|
rs202153128
|
0.00001
|
NM_005461.5(MAFB):c.125C>T (p.Pro42Leu)
|
rs1290466873
|
0.00001
|
NM_005461.5(MAFB):c.457G>C (p.Asp153His)
|
rs893483748
|
0.00001
|
NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter)
|
rs771409809
|
0.00001
|
NM_198721.4(COL25A1):c.382C>T (p.Arg128Ter)
|
rs1274380766
|
0.00001
|
NM_198721.4(COL25A1):c.672+1G>A
|
rs759316372
|
0.00001
|
46;XY;t(16;20)(q11.2;q13.2)dn
|
|
|
GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1
|
|
|
NM_001822.7(CHN1):c.*214dup
|
rs574270883
|
|
NM_001822.7(CHN1):c.*256C>T
|
rs771199357
|
|
NM_001822.7(CHN1):c.*734_*737del
|
rs66480716
|
|
NM_001822.7(CHN1):c.-104C>T
|
rs886055156
|
|
NM_001822.7(CHN1):c.-160C>G
|
rs572040045
|
|
NM_001822.7(CHN1):c.-23G>T
|
rs1252265676
|
|
NM_001822.7(CHN1):c.-298C>G
|
rs879722535
|
|
NM_001822.7(CHN1):c.-353C>T
|
rs1692031513
|
|
NM_001822.7(CHN1):c.1319A>G (p.Asp440Gly)
|
rs369847378
|
|
NM_001822.7(CHN1):c.225C>G (p.Ser75Arg)
|
rs1452850610
|
|
NM_001822.7(CHN1):c.361T>G (p.Leu121Val)
|
|
|
NM_001822.7(CHN1):c.422C>T (p.Pro141Leu)
|
rs387906599
|
|
NM_001822.7(CHN1):c.427T>C (p.Tyr143His)
|
rs121912794
|
|
NM_001822.7(CHN1):c.432G>C (p.Glu144Asp)
|
rs886055154
|
|
NM_001822.7(CHN1):c.435C>T (p.His145=)
|
rs527929031
|
|
NM_001822.7(CHN1):c.60A>T (p.Leu20Phe)
|
rs121912792
|
|
NM_001822.7(CHN1):c.628-14dup
|
rs375494218
|
|
NM_001822.7(CHN1):c.628-15_628-14del
|
rs547068631
|
|
NM_001822.7(CHN1):c.62A>G (p.Tyr21Cys)
|
|
|
NM_001822.7(CHN1):c.661T>C (p.Tyr221His)
|
|
|
NM_001822.7(CHN1):c.667G>A (p.Ala223Thr)
|
rs1558939623
|
|
NM_001822.7(CHN1):c.668C>T (p.Ala223Val)
|
rs121912795
|
|
NM_001822.7(CHN1):c.682G>A (p.Gly228Ser)
|
rs121912796
|
|
NM_001822.7(CHN1):c.754C>T (p.Pro252Ser)
|
rs387906600
|
|
NM_001822.7(CHN1):c.755C>A (p.Pro252Gln)
|
rs121912797
|
|
NM_001822.7(CHN1):c.937G>A (p.Glu313Lys)
|
rs121912798
|
|
NM_002834.5(PTPN11):c.1565T>C (p.Ile522Thr)
|
|
|
NM_004522.3(KIF5C):c.2615C>T (p.Thr872Met)
|
|
|
NM_004522.3(KIF5C):c.2680C>T (p.Arg894Cys)
|
|
|
NM_005246.4(FER):c.1883C>T (p.Thr628Ile)
|
|
|
NM_005246.4(FER):c.1887A>C (p.Gln629His)
|
|
|
NM_005461.4(MAFB):c.(?_391)_*(390_?)del
|
|
|
NM_005461.5(MAFB):c.440del (p.Gly147fs)
|
rs879255276
|
|
NM_005461.5(MAFB):c.526G>A (p.Ala176Thr)
|
rs750186410
|
|
NM_005461.5(MAFB):c.644del (p.Gln215fs)
|
rs879255277
|
|
NM_005461.5(MAFB):c.803del (p.Asn268fs)
|
rs879255275
|
|
NM_005735.4(ACTR1B):c.1006C>G (p.Arg336Gly)
|
|
|
NM_005735.4(ACTR1B):c.633T>A (p.Phe211Leu)
|
|
|
NM_016592.5(GNAS):c.304G>C (p.Glu102Gln)
|
|
|
NM_016592.5(GNAS):c.713G>A (p.Gly238Glu)
|
|
|
NM_018943.3(TUBA8):c.512T>G (p.Ile171Ser)
|
|
|
NM_023067.4(FOXL2):c.953C>A (p.Pro318Gln)
|
|
|
NM_080425.4(GNAS):c.1591C>T (p.Pro531Ser)
|
|
|
NM_080425.4(GNAS):c.1717G>C (p.Asp573His)
|
|
|
NM_181552.4(CUX1):c.3760G>A (p.Glu1254Lys)
|
rs1554534086
|
|
NM_181552.4(CUX1):c.3820A>G (p.Ile1274Val)
|
|
|
NM_181552.4(CUX1):c.691A>G (p.Met231Val)
|
|
|
NM_198721.4(COL25A1):c.1489G>T (p.Gly497Ter)
|
rs886037741
|
|
NM_198721.4(COL25A1):c.1598del (p.Pro533fs)
|
|
|
NM_198721.4(COL25A1):c.672+1del
|
rs2125927453
|
|
NM_198721.4:c.368-5122_708+6063del
|
|
|