NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile)
|
rs61751489
|
0.01849
|
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His)
|
rs61751543
|
0.01655
|
NM_000165.5(GJA1):c.*243A>G
|
rs139128953
|
0.00907
|
NM_000165.5(GJA1):c.-67C>G
|
rs111581053
|
0.00310
|
NM_000165.5(GJA1):c.*214G>A
|
rs549064986
|
0.00212
|
NM_000165.5(GJA1):c.*119T>C
|
rs72548742
|
0.00071
|
NM_000165.5(GJA1):c.*498G>A
|
rs575593821
|
0.00063
|
NM_000165.5(GJA1):c.1128G>A (p.Arg376=)
|
rs145215218
|
0.00051
|
NM_000165.5(GJA1):c.*285A>T
|
rs72548748
|
0.00042
|
NM_000165.5(GJA1):c.*1252A>G
|
rs976353489
|
0.00029
|
NM_004821.3(HAND1):c.566C>T (p.Pro189Leu)
|
rs147677474
|
0.00026
|
NM_145020.5(CFAP53):c.46C>T (p.Pro16Ser)
|
rs375198063
|
0.00023
|
NM_000165.5(GJA1):c.*521G>C
|
rs1270925038
|
0.00022
|
NM_000165.5(GJA1):c.1127G>A (p.Arg376Gln)
|
rs104893965
|
0.00019
|
NM_000165.5(GJA1):c.1039C>A (p.Leu347Ile)
|
rs184583316
|
0.00017
|
NM_000165.5(GJA1):c.*926A>T
|
rs765290352
|
0.00016
|
NM_000165.5(GJA1):c.*1077T>C
|
rs528853645
|
0.00014
|
NM_000165.5(GJA1):c.*191G>A
|
rs886061012
|
0.00013
|
NM_000165.5(GJA1):c.706G>A (p.Val236Ile)
|
rs148384161
|
0.00013
|
NM_000165.5(GJA1):c.*444A>G
|
rs919415571
|
0.00011
|
NM_000165.5(GJA1):c.456G>A (p.Leu152=)
|
rs72548741
|
0.00011
|
NM_004387.4(NKX2-5):c.885C>G (p.Phe295Leu)
|
rs150581386
|
0.00011
|
NM_000165.5(GJA1):c.*1334T>C
|
rs749953074
|
0.00010
|
NM_004821.3(HAND1):c.202G>C (p.Ala68Pro)
|
rs374965548
|
0.00010
|
NM_004821.3(HAND1):c.454A>G (p.Lys152Glu)
|
rs762375465
|
0.00010
|
NM_004387.4(NKX2-5):c.769C>A (p.Pro257Thr)
|
rs387906776
|
0.00008
|
NM_000165.5(GJA1):c.-135C>T
|
rs539558089
|
0.00007
|
NM_000165.5(GJA1):c.-161G>T
|
rs764033415
|
0.00007
|
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met)
|
rs756972680
|
0.00007
|
NM_001379200.1(TBX1):c.1474G>A (p.Gly492Arg)
|
rs541198585
|
0.00005
|
NM_004387.4(NKX2-5):c.890_891dup (p.Gly298fs)
|
rs778545351
|
0.00005
|
NM_000165.5(GJA1):c.764G>A (p.Ser255Asn)
|
rs765459582
|
0.00004
|
NM_004387.4(NKX2-5):c.188C>T (p.Ala63Val)
|
rs530270916
|
0.00004
|
NM_004387.4(NKX2-5):c.370A>G (p.Lys124Glu)
|
rs781260821
|
0.00004
|
NM_004387.4(NKX2-5):c.494C>T (p.Ala165Val)
|
rs984722259
|
0.00004
|
NM_004387.4(NKX2-5):c.753C>G (p.Asn251Lys)
|
rs765528024
|
0.00004
|
NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln)
|
rs375086983
|
0.00004
|
NM_004821.3(HAND1):c.122A>G (p.Tyr41Cys)
|
rs564241048
|
0.00004
|
NM_000165.5(GJA1):c.*1143T>G
|
rs765423162
|
0.00003
|
NM_000165.5(GJA1):c.*538G>A
|
rs886061014
|
0.00003
|
NM_004387.4(NKX2-5):c.356C>A (p.Ala119Glu)
|
rs369025518
|
0.00003
|
NM_004387.4(NKX2-5):c.827C>G (p.Ala276Gly)
|
rs751564052
|
0.00003
|
NM_000165.5(GJA1):c.-197T>G
|
rs1387189062
|
0.00002
|
NM_000165.5(GJA1):c.-87C>T
|
rs1263521795
|
0.00002
|
NM_004387.4(NKX2-5):c.510G>C (p.Gln170His)
|
rs1489743522
|
0.00002
|
NM_004387.4(NKX2-5):c.650G>A (p.Arg217Lys)
|
rs751684900
|
0.00002
|
NM_004821.3(HAND1):c.128A>G (p.Gln43Arg)
|
rs768965463
|
0.00002
|
NM_000165.5(GJA1):c.*635C>T
|
rs886061015
|
0.00001
|
NM_000165.5(GJA1):c.*916_*918del
|
rs886061018
|
0.00001
|
NM_000165.5(GJA1):c.1015G>A (p.Asp339Asn)
|
rs772121642
|
0.00001
|
NM_000165.5(GJA1):c.483C>G (p.Phe161Leu)
|
rs750243405
|
0.00001
|
NM_000165.5(GJA1):c.712G>T (p.Asp238Tyr)
|
rs143026885
|
0.00001
|
NM_000165.5(GJA1):c.814T>C (p.Ser272Pro)
|
rs376074787
|
0.00001
|
NM_004387.4(NKX2-5):c.111G>A (p.Leu37=)
|
rs746594822
|
0.00001
|
NM_004387.4(NKX2-5):c.169G>T (p.Ala57Ser)
|
rs549161381
|
0.00001
|
NM_004387.4(NKX2-5):c.448G>A (p.Val150Ile)
|
rs201582515
|
0.00001
|
NM_004387.4(NKX2-5):c.521T>G (p.Val174Gly)
|
rs1761356979
|
0.00001
|
NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val)
|
rs104893902
|
0.00001
|
NM_004387.4(NKX2-5):c.842C>A (p.Ala281Glu)
|
rs1206339157
|
0.00001
|
NM_004387.4(NKX2-5):c.893G>A (p.Gly298Glu)
|
rs549406766
|
0.00001
|
NM_004387.4(NKX2-5):c.96G>C (p.Glu32Asp)
|
rs776310516
|
0.00001
|
NM_004821.3(HAND1):c.135G>T (p.Trp45Cys)
|
rs772706064
|
0.00001
|
NM_004821.3(HAND1):c.152A>T (p.Asp51Val)
|
rs1365842411
|
0.00001
|
NM_004821.3(HAND1):c.187C>T (p.Pro63Ser)
|
rs772843786
|
0.00001
|
NM_004821.3(HAND1):c.215A>G (p.Tyr72Cys)
|
rs764242373
|
0.00001
|
NM_004821.3(HAND1):c.245C>T (p.Pro82Leu)
|
rs772538065
|
0.00001
|
NM_004821.3(HAND1):c.257A>T (p.Glu86Val)
|
rs1177737621
|
0.00001
|
NM_004821.3(HAND1):c.370G>T (p.Val124Leu)
|
rs745686103
|
0.00001
|
NM_004821.3(HAND1):c.551A>T (p.His184Leu)
|
rs1246794989
|
0.00001
|
GRCh37/hg19 15q11.2(chr15:22770421-23282799)
|
|
|
GRCh37/hg19 Xp22.33(chrX:2766830-2920785)x2
|
|
|
NC_000005.9:g.(?_153855366)_(153857568_?)del
|
|
|
NC_000005.9:g.(?_153855366)_(153857568_?)dup
|
|
|
NM_000165.5(GJA1):c.*1020_*1021del
|
rs375943953
|
|
NM_000165.5(GJA1):c.*1043T>C
|
rs886061021
|
|
NM_000165.5(GJA1):c.*1101T>C
|
rs886061022
|
|
NM_000165.5(GJA1):c.*1204A>G
|
rs1773943656
|
|
NM_000165.5(GJA1):c.*163G>A
|
rs886061011
|
|
NM_000165.5(GJA1):c.*212A>T
|
rs1408036306
|
|
NM_000165.5(GJA1):c.*301C>T
|
rs72548749
|
|
NM_000165.5(GJA1):c.*47A>G
|
rs886061010
|
|
NM_000165.5(GJA1):c.*529C>G
|
rs886061013
|
|
NM_000165.5(GJA1):c.*694T>C
|
rs886061016
|
|
NM_000165.5(GJA1):c.*750G>A
|
rs1773934302
|
|
NM_000165.5(GJA1):c.*773del
|
rs397698276
|
|
NM_000165.5(GJA1):c.*832C>G
|
rs773394030
|
|
NM_000165.5(GJA1):c.*888C>A
|
rs1329687638
|
|
NM_000165.5(GJA1):c.*992G>A
|
rs903940354
|
|
NM_000165.5(GJA1):c.-16-12T>A
|
rs56199702
|
|
NM_000165.5(GJA1):c.-188G>T
|
rs886061008
|
|
NM_000165.5(GJA1):c.129A>G (p.Ser43=)
|
rs749135596
|
|
NM_000165.5(GJA1):c.270C>G (p.Leu90=)
|
rs886061009
|
|
NM_000165.5(GJA1):c.717G>C (p.Arg239=)
|
rs57946868
|
|
NM_000165.5(GJA1):c.886T>C (p.Ser296Pro)
|
rs1773914179
|
|
NM_000165.5(GJA1):c.893G>A (p.Cys298Tyr)
|
rs1773914309
|
|
NM_000165.5(GJA1):c.932del (p.Ala311fs)
|
rs778110855
|
|
NM_001349999.2(RBFOX2):c.352C>T (p.Gln118Ter)
|
rs2148138686
|
|
NM_004387.4(NKX2-5):c.178G>C (p.Glu60Gln)
|
rs766199339
|
|
NM_004387.4(NKX2-5):c.248C>G (p.Ala83Gly)
|
rs1182777346
|
|
NM_004387.4(NKX2-5):c.387C>A (p.Asn129Lys)
|
rs750029908
|
|
NM_004387.4(NKX2-5):c.590G>C (p.Arg197Pro)
|
rs774482632
|
|
NM_004387.4(NKX2-5):c.627GCC[7] (p.Pro213_Pro214dup)
|
rs746833511
|
|
NM_004387.4(NKX2-5):c.635C>G (p.Pro212Arg)
|
rs372282873
|
|
NM_004387.4(NKX2-5):c.646C>T (p.Arg216Cys)
|
rs104893905
|
|
NM_004387.4(NKX2-5):c.65A>C (p.Gln22Pro)
|
rs201442000
|
|
NM_004387.4(NKX2-5):c.763G>A (p.Ala255Thr)
|
rs759518211
|
|
NM_004387.4(NKX2-5):c.865AAC[2] (p.Asn291del)
|
rs756974215
|
|
NM_004821.3(HAND1):c.10G>A (p.Val4Met)
|
|
|
NM_004821.3(HAND1):c.110A>G (p.Gln37Arg)
|
|
|
NM_004821.3(HAND1):c.111G>C (p.Gln37His)
|
|
|
NM_004821.3(HAND1):c.112G>A (p.Glu38Lys)
|
|
|
NM_004821.3(HAND1):c.117G>C (p.Arg39Ser)
|
rs2113303993
|
|
NM_004821.3(HAND1):c.118C>A (p.Pro40Thr)
|
|
|
NM_004821.3(HAND1):c.126C>A (p.Phe42Leu)
|
|
|
NM_004821.3(HAND1):c.132C>G (p.Ser44Arg)
|
|
|
NM_004821.3(HAND1):c.146C>G (p.Pro49Arg)
|
|
|
NM_004821.3(HAND1):c.158C>T (p.Ala53Val)
|
|
|
NM_004821.3(HAND1):c.161C>G (p.Pro54Arg)
|
rs780969396
|
|
NM_004821.3(HAND1):c.161C>T (p.Pro54Leu)
|
|
|
NM_004821.3(HAND1):c.168C>G (p.Phe56Leu)
|
|
|
NM_004821.3(HAND1):c.173C>A (p.Ala58Glu)
|
|
|
NM_004821.3(HAND1):c.173C>T (p.Ala58Val)
|
|
|
NM_004821.3(HAND1):c.182C>A (p.Pro61Gln)
|
|
|
NM_004821.3(HAND1):c.196G>A (p.Ala66Thr)
|
|
|
NM_004821.3(HAND1):c.1A>G (p.Met1Val)
|
|
|
NM_004821.3(HAND1):c.231G>T (p.Arg77Ser)
|
|
|
NM_004821.3(HAND1):c.235G>C (p.Gly79Arg)
|
|
|
NM_004821.3(HAND1):c.250C>G (p.Arg84Gly)
|
|
|
NM_004821.3(HAND1):c.271C>A (p.Arg91Ser)
|
rs369296058
|
|
NM_004821.3(HAND1):c.271C>G (p.Arg91Gly)
|
|
|
NM_004821.3(HAND1):c.289G>T (p.Gly97Cys)
|
rs878854746
|
|
NM_004821.3(HAND1):c.29ATCACCACC[1] (p.His13_His15del)
|
|
|
NM_004821.3(HAND1):c.308A>G (p.Glu103Gly)
|
|
|
NM_004821.3(HAND1):c.355G>C (p.Glu119Gln)
|
|
|
NM_004821.3(HAND1):c.364C>T (p.Pro122Ser)
|
|
|
NM_004821.3(HAND1):c.36C>A (p.His12Gln)
|
|
|
NM_004821.3(HAND1):c.370G>A (p.Val124Met)
|
|
|
NM_004821.3(HAND1):c.374C>G (p.Pro125Arg)
|
|
|
NM_004821.3(HAND1):c.374C>T (p.Pro125Leu)
|
|
|
NM_004821.3(HAND1):c.379G>T (p.Asp127Tyr)
|
|
|
NM_004821.3(HAND1):c.37C>T (p.His13Tyr)
|
|
|
NM_004821.3(HAND1):c.400A>T (p.Lys134Ter)
|
rs974646425
|
|
NM_004821.3(HAND1):c.422G>A (p.Ser141Asn)
|
|
|
NM_004821.3(HAND1):c.455A>C (p.Lys152Thr)
|
|
|
NM_004821.3(HAND1):c.473A>T (p.Asp158Val)
|
|
|
NM_004821.3(HAND1):c.479A>G (p.Glu160Gly)
|
|
|
NM_004821.3(HAND1):c.496C>T (p.Leu166Phe)
|
rs2113303062
|
|
NM_004821.3(HAND1):c.500A>G (p.Lys167Arg)
|
|
|
NM_004821.3(HAND1):c.512G>A (p.Gly171Asp)
|
|
|
NM_004821.3(HAND1):c.51C>G (p.His17Gln)
|
|
|
NM_004821.3(HAND1):c.535A>T (p.Arg179Trp)
|
|
|
NM_004821.3(HAND1):c.55_63dup (p.Pro21_Met22insAlaHisPro)
|
|
|
NM_004821.3(HAND1):c.565C>T (p.Pro189Ser)
|
|
|
NM_004821.3(HAND1):c.574G>A (p.Gly192Ser)
|
rs2113300916
|
|
NM_004821.3(HAND1):c.587A>G (p.Lys196Arg)
|
rs878854747
|
|
NM_004821.3(HAND1):c.604A>G (p.Thr202Ala)
|
rs2113300864
|
|
NM_004821.3(HAND1):c.608G>C (p.Gly203Ala)
|
|
|
NM_004821.3(HAND1):c.62C>T (p.Pro21Leu)
|
rs780396101
|
|
NM_004821.3(HAND1):c.640A>C (p.Asn214His)
|
|
|
NM_004821.3(HAND1):c.647G>A (p.Ter216=)
|
|
|
NM_004821.3(HAND1):c.66_73dup (p.Glu25fs)
|
rs1193545616
|
|
NM_004821.3(HAND1):c.67C>T (p.Leu23Phe)
|
rs1389429025
|
|
NM_004821.3(HAND1):c.6C>A (p.Asn2Lys)
|
|
|
NM_004821.3(HAND1):c.72C>G (p.His24Gln)
|
|
|
NM_004821.3(HAND1):c.7C>G (p.Leu3Val)
|
|
|
NM_017617.5(NOTCH1):c.7178A>G (p.Gln2393Arg)
|
rs1842918022
|
|