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46;XY;inv(10)(q21.2q22.3)pat
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GRCh37/hg19 9q34.3(chr9:139315643-139465759)x1
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GRCh37/hg19 Xp22.33(chrX:2766830-2920785)x2
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NM_000165.5(GJA1):c.*1018_*1021del
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rs375943953
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NM_000165.5(GJA1):c.*1020_*1021del
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rs375943953
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NM_000165.5(GJA1):c.*1043T>C
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rs886061021
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NM_000165.5(GJA1):c.*1077T>C
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rs528853645
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NM_000165.5(GJA1):c.*1101T>C
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rs886061022
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NM_000165.5(GJA1):c.*1143T>G
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NM_000165.5(GJA1):c.*119T>C
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rs72548742
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NM_000165.5(GJA1):c.*1204A>G
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NM_000165.5(GJA1):c.*1252A>G
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NM_000165.5(GJA1):c.*1322A>T
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rs12212865
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NM_000165.5(GJA1):c.*1334T>C
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NM_000165.5(GJA1):c.*163G>A
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rs886061011
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NM_000165.5(GJA1):c.*1733C>T
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rs78394273
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NM_000165.5(GJA1):c.*173G>A
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rs72548744
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NM_000165.5(GJA1):c.*191G>A
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rs886061012
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NM_000165.5(GJA1):c.*212A>T
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NM_000165.5(GJA1):c.*214G>A
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rs549064986
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NM_000165.5(GJA1):c.*243A>G
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rs139128953
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NM_000165.5(GJA1):c.*285A>T
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rs72548748
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NM_000165.5(GJA1):c.*301C>T
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NM_000165.5(GJA1):c.*3dup
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rs397824185
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NM_000165.5(GJA1):c.*444A>G
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NM_000165.5(GJA1):c.*47A>G
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rs886061010
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NM_000165.5(GJA1):c.*498G>A
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NM_000165.5(GJA1):c.*521G>C
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NM_000165.5(GJA1):c.*529C>G
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rs886061013
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NM_000165.5(GJA1):c.*538G>A
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rs886061014
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NM_000165.5(GJA1):c.*635C>T
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rs886061015
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NM_000165.5(GJA1):c.*694T>C
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rs886061016
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NM_000165.5(GJA1):c.*750G>A
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NM_000165.5(GJA1):c.*772_*773dup
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rs397698276
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NM_000165.5(GJA1):c.*773del
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rs397698276
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NM_000165.5(GJA1):c.*773dup
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rs397698276
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NM_000165.5(GJA1):c.*832C>G
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NM_000165.5(GJA1):c.*888C>A
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NM_000165.5(GJA1):c.*916_*918del
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rs886061018
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NM_000165.5(GJA1):c.*926A>T
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NM_000165.5(GJA1):c.*968T>C
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rs111878880
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NM_000165.5(GJA1):c.*992G>A
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NM_000165.5(GJA1):c.-135C>T
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rs539558089
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NM_000165.5(GJA1):c.-16-12T>A
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rs56199702
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NM_000165.5(GJA1):c.-161G>T
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rs764033415
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NM_000165.5(GJA1):c.-188G>T
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rs886061008
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NM_000165.5(GJA1):c.-197T>G
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NM_000165.5(GJA1):c.-67C>G
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rs111581053
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NM_000165.5(GJA1):c.-87C>T
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NM_000165.5(GJA1):c.1015G>A (p.Asp339Asn)
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rs772121642
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NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln)
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rs2227885
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NM_000165.5(GJA1):c.1127G>A (p.Arg376Gln)
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rs104893965
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NM_000165.5(GJA1):c.1128G>A (p.Arg376=)
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rs145215218
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NM_000165.5(GJA1):c.129A>G (p.Ser43=)
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NM_000165.5(GJA1):c.270C>G (p.Leu90=)
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rs886061009
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NM_000165.5(GJA1):c.456G>A (p.Leu152=)
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rs72548741
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NM_000165.5(GJA1):c.483C>G (p.Phe161Leu)
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NM_000165.5(GJA1):c.612G>A (p.Thr204=)
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rs766082259
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NM_000165.5(GJA1):c.706G>A (p.Val236Ile)
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NM_000165.5(GJA1):c.712G>T (p.Asp238Tyr)
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NM_000165.5(GJA1):c.717G>A (p.Arg239=)
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rs57946868
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NM_000165.5(GJA1):c.717G>C (p.Arg239=)
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NM_000165.5(GJA1):c.764G>A (p.Ser255Asn)
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NM_000165.5(GJA1):c.814T>C (p.Ser272Pro)
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rs376074787
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NM_000165.5(GJA1):c.837G>A (p.Ser279=)
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rs67407537
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NM_000165.5(GJA1):c.886T>C (p.Ser296Pro)
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NM_000165.5(GJA1):c.893G>A (p.Cys298Tyr)
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NM_001077653.2(TBX20):c.995del (p.Pro332fs)
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rs1554284604
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NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter)
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rs1603251494
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NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys)
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rs28936670
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NM_004821.3(HAND1):c.122A>G (p.Tyr41Cys)
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NM_004821.3(HAND1):c.162G>A (p.Pro54=)
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rs138460675
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NM_004821.3(HAND1):c.174G>C (p.Ala58=)
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rs761768832
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NM_004821.3(HAND1):c.180G>A (p.Gly60=)
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rs369386099
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NM_004821.3(HAND1):c.187C>T (p.Pro63Ser)
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rs772843786
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NM_004821.3(HAND1):c.215A>G (p.Tyr72Cys)
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NM_004821.3(HAND1):c.247G>T (p.Gly83Trp)
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rs201302313
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NM_004821.3(HAND1):c.252G>A (p.Arg84=)
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NM_004821.3(HAND1):c.257A>T (p.Glu86Val)
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rs1177737621
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NM_004821.3(HAND1):c.279C>T (p.Gly93=)
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NM_004821.3(HAND1):c.289G>T (p.Gly97Cys)
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rs878854746
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NM_004821.3(HAND1):c.370G>T (p.Val124Leu)
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NM_004821.3(HAND1):c.468T>C (p.Ser156=)
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NM_004821.3(HAND1):c.468T>G (p.Ser156=)
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rs34402828
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NM_004821.3(HAND1):c.531G>C (p.Arg177=)
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rs34198899
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NM_004821.3(HAND1):c.551A>T (p.His184Leu)
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NM_004821.3(HAND1):c.587A>G (p.Lys196Arg)
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rs878854747
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NM_014209.4(ETV2):c.350del (p.Gly117fs)
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NM_014209.4(ETV2):c.757G>T (p.Asp253Tyr)
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NM_017617.5(NOTCH1):c.1077C>A (p.Cys359Ter)
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NM_017617.5(NOTCH1):c.1651dup (p.Thr551fs)
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NM_017617.5(NOTCH1):c.2741-1G>A
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NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His)
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rs61751543
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NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met)
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rs756972680
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NM_017617.5(NOTCH1):c.5385-1G>A
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NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile)
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rs61751489
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NM_017617.5(NOTCH1):c.7178A>G (p.Gln2393Arg)
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NM_032682.6(FOXP1):c.1702C>T (p.Pro568Ser)
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rs147674680
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NM_080647.1(TBX1):c.1447G>A (p.Gly483Arg)
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rs541198585
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NM_145020.5(CFAP53):c.46C>T (p.Pro16Ser)
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rs375198063
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