NM_000823.4(GHRHR):c.214G>T (p.Glu72Ter)
|
rs121918117
|
0.00018
|
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile)
|
rs121917840
|
0.00010
|
NM_000823.4(GHRHR):c.57+1G>A
|
rs2302022
|
0.00007
|
NM_006261.5(PROP1):c.150del (p.Arg53fs)
|
rs587776683
|
0.00006
|
NM_005149.3(TBX19):c.856C>T (p.Arg286Ter)
|
rs74315376
|
0.00005
|
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys)
|
rs121917839
|
0.00005
|
NM_005149.3(TBX19):c.535C>T (p.Arg179Ter)
|
rs200197424
|
0.00004
|
NM_017619.4(RNPC3):c.259C>T (p.Gln87Ter)
|
rs1332137733
|
0.00004
|
NM_000306.4(POU1F1):c.472G>C (p.Ala158Pro)
|
rs104893756
|
0.00003
|
NM_000823.4(GHRHR):c.431T>A (p.Leu144His)
|
rs121918118
|
0.00003
|
NM_006261.5(PROP1):c.217C>T (p.Arg73Cys)
|
rs121917843
|
0.00003
|
NM_006261.5(PROP1):c.295C>T (p.Arg99Ter)
|
rs121917844
|
0.00003
|
NM_017619.4(RNPC3):c.1420C>A (p.Pro474Thr)
|
rs370930012
|
0.00003
|
NM_021728.4(OTX2):c.698A>G (p.Asn233Ser)
|
rs370761964
|
0.00003
|
NM_003401.5(XRCC4):c.127T>C (p.Trp43Arg)
|
rs587779351
|
0.00002
|
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln)
|
rs137853100
|
0.00002
|
NM_000306.4(POU1F1):c.649C>T (p.Arg217Ter)
|
rs761275346
|
0.00001
|
NM_000306.4(POU1F1):c.688G>A (p.Glu230Lys)
|
rs104893764
|
0.00001
|
NM_000515.5(GH1):c.626G>A (p.Arg209His)
|
rs137853223
|
0.00001
|
NM_000823.4(GHRHR):c.1069C>T (p.Arg357Cys)
|
rs376948691
|
0.00001
|
NM_000823.4(GHRHR):c.725T>G (p.Phe242Cys)
|
rs121918119
|
0.00001
|
NM_003865.3(HESX1):c.18G>C (p.Gln6His)
|
rs121909173
|
0.00001
|
NM_003865.3(HESX1):c.240del (p.Glu81fs)
|
rs777833871
|
0.00001
|
NM_003865.3(HESX1):c.308T>A (p.Leu103Ter)
|
rs777223697
|
0.00001
|
NM_003865.3(HESX1):c.313T>G (p.Trp105Gly)
|
rs754137696
|
0.00001
|
NM_003865.3(HESX1):c.357+2T>C
|
rs575112817
|
0.00001
|
NM_003865.3(HESX1):c.478C>T (p.Arg160Cys)
|
rs28936702
|
0.00001
|
NM_005149.3(TBX19):c.627C>G (p.Tyr209Ter)
|
rs140528998
|
0.00001
|
NM_006261.5(PROP1):c.218G>A (p.Arg73His)
|
rs121917842
|
0.00001
|
NM_006261.5(PROP1):c.334C>T (p.Arg112Ter)
|
rs766673446
|
0.00001
|
NM_006261.5(PROP1):c.63del (p.Leu22fs)
|
rs780134343
|
0.00001
|
NM_017619.4(RNPC3):c.1504C>T (p.Arg502Ter)
|
rs918108896
|
0.00001
|
NM_033343.4(LHX4):c.250C>T (p.Arg84Cys)
|
rs121912642
|
0.00001
|
NM_033343.4(LHX4):c.452-2A>C
|
rs786204780
|
0.00001
|
46;X;t(X;5)(q24;q13)dn
|
|
|
GH1, 6.7-KB DEL
|
|
|
K146R
|
|
|
NC_000007.14:g.30959635_30967328delinsAGAGATCCA
|
|
|
NC_000007.14:g.30963945A>C
|
rs2128596101
|
|
NC_000007.14:g.31008681G>T
|
rs1562606449
|
|
NC_000007.14:g.62535490A>G
|
rs483352872
|
|
NC_000009.12:g.(?_136197325)_(136205012_?)del
|
|
|
NC_000017.11:g.(63914995_63921260)del
|
|
|
NC_000023.10:g.(?_100603501)_(100608996_?)del
|
|
|
NC_000023.10:g.(?_100604853)_(100609705_?)del
|
|
|
NC_000023.10:g.(?_100608162)_(100615763_?)del
|
|
|
NC_000023.10:g.(?_100614261)_(100615763_?)del
|
|
|
NC_000023.10:g.(?_100629415)_(100630272_?)del
|
|
|
NC_000023.11:g.(?_101362153)_(101362709_?)dup
|
|
|
NC_000023.11:g.101353342_101353352del
|
|
|
NC_000023.11:g.101353352dup
|
|
|
NC_000023.11:g.101358697del
|
|
|
NM_000059.4(BRCA2):c.9152del (p.Pro3051fs)
|
rs587779349
|
|
NM_000061.3(BTK):c.1085A>G (p.His362Arg)
|
rs2147429797
|
|
NM_000061.3(BTK):c.1102G>T (p.Gly368Ter)
|
rs2147429777
|
|
NM_000061.3(BTK):c.1103-2A>G
|
rs1603005659
|
|
NM_000061.3(BTK):c.1125T>G (p.Tyr375Ter)
|
rs128621197
|
|
NM_000061.3(BTK):c.1135C>T (p.Gln379Ter)
|
|
|
NM_000061.3(BTK):c.1138C>T (p.Gln380Ter)
|
rs1569292021
|
|
NM_000061.3(BTK):c.1171G>T (p.Gly391Ter)
|
|
|
NM_000061.3(BTK):c.1176C>A (p.Tyr392Ter)
|
rs782429199
|
|
NM_000061.3(BTK):c.119A>G (p.Tyr40Cys)
|
rs1555980875
|
|
NM_000061.3(BTK):c.1249A>T (p.Lys417Ter)
|
rs1926503277
|
|
NM_000061.3(BTK):c.1262G>A (p.Trp421Ter)
|
rs1603005139
|
|
NM_000061.3(BTK):c.1278_1291del (p.Val427fs)
|
|
|
NM_000061.3(BTK):c.1321G>T (p.Glu441Ter)
|
rs1603005073
|
|
NM_000061.3(BTK):c.1349+1G>A
|
rs2147428155
|
|
NM_000061.3(BTK):c.1350-1G>A
|
rs1926477495
|
|
NM_000061.3(BTK):c.1379T>A (p.Leu460Ter)
|
rs2147427562
|
|
NM_000061.3(BTK):c.138dup (p.Gly47fs)
|
rs2147448137
|
|
NM_000061.3(BTK):c.1399C>T (p.Gln467Ter)
|
rs2147427505
|
|
NM_000061.3(BTK):c.1420dup (p.Thr474fs)
|
rs2147427470
|
|
NM_000061.3(BTK):c.1505G>A (p.Cys502Tyr)
|
rs1313261352
|
|
NM_000061.3(BTK):c.1517G>A (p.Cys506Tyr)
|
|
|
NM_000061.3(BTK):c.1526T>C (p.Met509Thr)
|
rs1569291644
|
|
NM_000061.3(BTK):c.1535T>C (p.Leu512Pro)
|
rs2147427255
|
|
NM_000061.3(BTK):c.1537del (p.Glu513fs)
|
|
|
NM_000061.3(BTK):c.1546C>T (p.Gln516Ter)
|
rs1603004481
|
|
NM_000061.3(BTK):c.1558C>T (p.Arg520Ter)
|
rs128621201
|
|
NM_000061.3(BTK):c.1559G>A (p.Arg520Gln)
|
rs128621202
|
|
NM_000061.3(BTK):c.1567-12_1567-9del
|
rs1569291244
|
|
NM_000061.3(BTK):c.1567-2A>C
|
|
|
NM_000061.3(BTK):c.1567-2A>G
|
rs1555977598
|
|
NM_000061.3(BTK):c.1573C>G (p.Arg525Gly)
|
rs886041149
|
|
NM_000061.3(BTK):c.1573C>T (p.Arg525Ter)
|
rs886041149
|
|
NM_000061.3(BTK):c.1574G>A (p.Arg525Gln)
|
rs128620183
|
|
NM_000061.3(BTK):c.1581_1584del (p.Cys527fs)
|
rs1555977592
|
|
NM_000061.3(BTK):c.1606A>T (p.Lys536Ter)
|
|
|
NM_000061.3(BTK):c.1624_1625insGCGCCGGCGAGCGCCGCCCGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCCCCGGGCCCGAGGGCAACGAGCAGACCCCAGCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATAAAGTATCTGATTTCGGCC (p.Gly541_Leu542insArgAlaGlyGluArgArgProGlyGlySerGlyTrpArgSerGlyArgAlaProProGlyProArgAlaThrSerArgProGlnProXaaXaaXaaLysLysLysLysLysLysAsnLysValSerAspPheGly)
|
|
|
NM_000061.3(BTK):c.1625T>C (p.Leu542Pro)
|
rs128621203
|
|
NM_000061.3(BTK):c.1630A>G (p.Arg544Gly)
|
|
|
NM_000061.3(BTK):c.1631+2T>C
|
rs1926404536
|
|
NM_000061.3(BTK):c.1641_1651del (p.Asp548fs)
|
rs2147425053
|
|
NM_000061.3(BTK):c.1684C>T (p.Arg562Trp)
|
rs128621204
|
|
NM_000061.3(BTK):c.1688G>A (p.Trp563Ter)
|
rs1555977474
|
|
NM_000061.3(BTK):c.1689G>A (p.Trp563Ter)
|
|
|
NM_000061.3(BTK):c.1694dup (p.Pro566fs)
|
|
|
NM_000061.3(BTK):c.1697C>G (p.Pro566Arg)
|
rs1057521814
|
|
NM_000061.3(BTK):c.1713_1714dup (p.Ser572fs)
|
rs1603002367
|
|
NM_000061.3(BTK):c.1725C>A (p.Ser575Arg)
|
|
|
NM_000061.3(BTK):c.1743G>A (p.Trp581Ter)
|
|
|
NM_000061.3(BTK):c.1750+1G>A
|
|
|
NM_000061.3(BTK):c.1750+1G>T
|
|
|
NM_000061.3(BTK):c.1750+5G>A
|
rs864321659
|
|
NM_000061.3(BTK):c.1751-1G>A
|
|
|
NM_000061.3(BTK):c.1751-1G>C
|
rs1603001846
|
|
NM_000061.3(BTK):c.1751-1G>T
|
|
|
NM_000061.3(BTK):c.1751-2A>G
|
|
|
NM_000061.3(BTK):c.1763G>A (p.Trp588Ter)
|
rs1603001805
|
|
NM_000061.3(BTK):c.1765G>T (p.Glu589Ter)
|
rs1926358858
|
|
NM_000061.3(BTK):c.176AGA[1] (p.Lys60del)
|
rs1603019594
|
|
NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter)
|
rs128621207
|
|
NM_000061.3(BTK):c.1780G>A (p.Gly594Arg)
|
rs1555977339
|
|
NM_000061.3(BTK):c.1780G>C (p.Gly594Arg)
|
|
|
NM_000061.3(BTK):c.1834C>T (p.Gln612Ter)
|
|
|
NM_000061.3(BTK):c.1864del (p.Ala622fs)
|
|
|
NM_000061.3(BTK):c.1881_1882del (p.Thr628fs)
|
|
|
NM_000061.3(BTK):c.1893C>G (p.Tyr631Ter)
|
|
|
NM_000061.3(BTK):c.1921C>T (p.Arg641Cys)
|
|
|
NM_000061.3(BTK):c.1922G>A (p.Arg641His)
|
rs1926220192
|
|
NM_000061.3(BTK):c.1926del (p.Thr643fs)
|
|
|
NM_000061.3(BTK):c.1931T>C (p.Phe644Ser)
|
rs2147419969
|
|
NM_000061.3(BTK):c.215del (p.Asn72fs)
|
rs886041148
|
|
NM_000061.3(BTK):c.215dup (p.Asn72fs)
|
rs886041148
|
|
NM_000061.3(BTK):c.232C>T (p.Gln78Ter)
|
rs1603019535
|
|
NM_000061.3(BTK):c.241-1G>C
|
rs2147444958
|
|
NM_000061.3(BTK):c.270del (p.Glu90fs)
|
rs1603017538
|
|
NM_000061.3(BTK):c.274del (p.Ile92fs)
|
|
|
NM_000061.3(BTK):c.278C>A (p.Ser93Ter)
|
rs1569295678
|
|
NM_000061.3(BTK):c.286G>T (p.Glu96Ter)
|
|
|
NM_000061.3(BTK):c.2T>C (p.Met1Thr)
|
rs128620186
|
|
NM_000061.3(BTK):c.309+1G>A
|
|
|
NM_000061.3(BTK):c.310-1G>C
|
rs864321662
|
|
NM_000061.3(BTK):c.32T>C (p.Leu11Pro)
|
rs1603020228
|
|
NM_000061.3(BTK):c.334T>C (p.Tyr112His)
|
rs1926977049
|
|
NM_000061.3(BTK):c.336C>A (p.Tyr112Ter)
|
rs1409835623
|
|
NM_000061.3(BTK):c.336C>G (p.Tyr112Ter)
|
rs1409835623
|
|
NM_000061.3(BTK):c.349A>C (p.Thr117Pro)
|
rs782820524
|
|
NM_000061.3(BTK):c.355del (p.Glu119fs)
|
|
|
NM_000061.3(BTK):c.371G>A (p.Trp124Ter)
|
rs1555980049
|
|
NM_000061.3(BTK):c.379del (p.Gln127fs)
|
|
|
NM_000061.3(BTK):c.391+1G>A
|
rs2147443380
|
|
NM_000061.3(BTK):c.3G>A (p.Met1Ile)
|
rs1927172387
|
|
NM_000061.3(BTK):c.402C>A (p.Tyr134Ter)
|
|
|
NM_000061.3(BTK):c.43C>T (p.Gln15Ter)
|
rs128620188
|
|
NM_000061.3(BTK):c.43del (p.Gln15fs)
|
|
|
NM_000061.3(BTK):c.441del (p.Phe146_Trp147insTer)
|
rs1926711302
|
|
NM_000061.3(BTK):c.456_457insACTT (p.Leu153fs)
|
|
|
NM_000061.3(BTK):c.465C>A (p.Cys155Ter)
|
rs1926710166
|
|
NM_000061.3(BTK):c.472_475del (p.Thr158fs)
|
rs193922128
|
|
NM_000061.3(BTK):c.496C>T (p.Gln166Ter)
|
rs1926708861
|
|
NM_000061.3(BTK):c.513dup (p.Asn172fs)
|
|
|
NM_000061.3(BTK):c.520+1G>A
|
rs2147435832
|
|
NM_000061.3(BTK):c.521-1G>A
|
rs1926696248
|
|
NM_000061.3(BTK):c.549_550del (p.Lys183fs)
|
|
|
NM_000061.3(BTK):c.557dup (p.Pro187fs)
|
rs864321665
|
|
NM_000061.3(BTK):c.564del (p.Pro190fs)
|
rs1603009890
|
|
NM_000061.3(BTK):c.588+1G>A
|
|
|
NM_000061.3(BTK):c.588+1G>T
|
rs1569293252
|
|
NM_000061.3(BTK):c.595A>T (p.Lys199Ter)
|
rs2147433246
|
|
NM_000061.3(BTK):c.62C>A (p.Ser21Ter)
|
rs2147448284
|
|
NM_000061.3(BTK):c.655del (p.Val219fs)
|
rs1569292810
|
|
NM_000061.3(BTK):c.680del (p.Pro227fs)
|
rs1603008449
|
|
NM_000061.3(BTK):c.721dup (p.Tyr241fs)
|
rs1603008381
|
|
NM_000061.3(BTK):c.754del (p.Trp252fs)
|
|
|
NM_000061.3(BTK):c.755G>A (p.Trp252Ter)
|
rs128621192
|
|
NM_000061.3(BTK):c.756G>A (p.Trp252Ter)
|
rs1603008349
|
|
NM_000061.3(BTK):c.763C>T (p.Arg255Ter)
|
rs128621193
|
|
NM_000061.3(BTK):c.777-1G>A
|
rs1603007942
|
|
NM_000061.3(BTK):c.777-2A>G
|
rs193922129
|
|
NM_000061.3(BTK):c.778C>T (p.Gln260Ter)
|
|
|
NM_000061.3(BTK):c.806del (p.Val269fs)
|
rs1926614700
|
|
NM_000061.3(BTK):c.82C>T (p.Arg28Cys)
|
rs1927168815
|
|
NM_000061.3(BTK):c.83G>A (p.Arg28His)
|
rs128620185
|
|
NM_000061.3(BTK):c.83G>T (p.Arg28Leu)
|
rs128620185
|
|
NM_000061.3(BTK):c.862C>T (p.Arg288Trp)
|
rs128621194
|
|
NM_000061.3(BTK):c.863G>A (p.Arg288Gln)
|
rs1555978277
|
|
NM_000061.3(BTK):c.889C>T (p.Gln297Ter)
|
|
|
NM_000061.3(BTK):c.894+1G>A
|
rs1064793859
|
|
NM_000061.3(BTK):c.895-1G>T
|
rs1926563964
|
|
NM_000061.3(BTK):c.895-2A>G
|
rs193922132
|
|
NM_000061.3(BTK):c.895-2A>T
|
|
|
NM_000061.3(BTK):c.895-37_928del
|
rs1926563302
|
|
NM_000061.3(BTK):c.951_952del (p.Ser318fs)
|
|
|
NM_000061.3(BTK):c.953_956del (p.Ser318fs)
|
|
|
NM_000061.3(BTK):c.957_958del (p.Phe320fs)
|
|
|
NM_000061.3(BTK):c.974+1G>A
|
|
|
NM_000061.3(BTK):c.975-1G>T
|
rs2147429973
|
|
NM_000193.4(SHH):c.562+1G>A
|
|
|
NM_000306.4(POU1F1):c.143-64T>G
|
rs1064796954
|
|
NM_000306.4(POU1F1):c.143-66T>G
|
rs2106940833
|
|
NM_000306.4(POU1F1):c.143-68T>A
|
rs2106940845
|
|
NM_000306.4(POU1F1):c.143-69T>G
|
rs2106940848
|
|
NM_000306.4(POU1F1):c.143-71T>G
|
rs2106940851
|
|
NM_000306.4(POU1F1):c.143-73T>G
|
rs2106940853
|
|
NM_000306.4(POU1F1):c.404T>G (p.Phe135Cys)
|
rs104893761
|
|
NM_000306.4(POU1F1):c.427C>T (p.Arg143Ter)
|
|
|
NM_000306.4(POU1F1):c.428G>A (p.Arg143Gln)
|
rs104893759
|
|
NM_000306.4(POU1F1):c.433A>T (p.Lys145Ter)
|
rs104893763
|
|
NM_000306.4(POU1F1):c.514C>T (p.Arg172Ter)
|
rs104893754
|
|
NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln)
|
rs104893765
|
|
NM_000306.4(POU1F1):c.537C>G (p.Ser179Arg)
|
rs104893766
|
|
NM_000306.4(POU1F1):c.577T>C (p.Trp193Arg)
|
rs104893758
|
|
NM_000306.4(POU1F1):c.638_642del (p.Arg213fs)
|
rs772390221
|
|
NM_000306.4(POU1F1):c.665+1G>T
|
rs515726221
|
|
NM_000306.4(POU1F1):c.715C>T (p.Pro239Ser)
|
rs104893762
|
|
NM_000306.4(POU1F1):c.71C>T (p.Pro24Leu)
|
rs104893757
|
|
NM_000306.4(POU1F1):c.747del (p.Glu250fs)
|
rs587776798
|
|
NM_000306.4(POU1F1):c.748G>T (p.Glu250Ter)
|
rs104893760
|
|
NM_000306.4(POU1F1):c.775dup (p.Arg259fs)
|
rs587776799
|
|
NM_000306.4(POU1F1):c.811C>T (p.Arg271Trp)
|
rs104893755
|
|
NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter)
|
rs988133284
|
|
NM_000515.5(GH1):c.172-2A>T
|
rs863223309
|
|
NM_000515.5(GH1):c.172G>A (p.Glu58Lys)
|
rs2144739391
|
|
NM_000515.5(GH1):c.173A>C (p.Glu58Ala)
|
rs2144739380
|
|
NM_000515.5(GH1):c.176A>G (p.Glu59Gly)
|
rs2144739370
|
|
NM_000515.5(GH1):c.236G>C (p.Cys79Ser)
|
rs137853222
|
|
NM_000515.5(GH1):c.245_246del (p.Glu82fs)
|
|
|
NM_000515.5(GH1):c.291+1G>A
|
rs71640277
|
|
NM_000515.5(GH1):c.291+1G>C
|
rs71640277
|
|
NM_000515.5(GH1):c.291+28G>A
|
rs863223306
|
|
NM_000515.5(GH1):c.291+29_291+46del
|
rs2144738731
|
|
NM_000515.5(GH1):c.291+2T>C
|
rs863223310
|
|
NM_000515.5(GH1):c.291+5G>A
|
rs863223307
|
|
NM_000515.5(GH1):c.291+6T>C
|
rs797044450
|
|
NM_000515.5(GH1):c.292-37_292-16del
|
|
|
NM_000515.5(GH1):c.307C>T (p.Arg103Cys)
|
rs137853220
|
|
NM_000515.5(GH1):c.413A>G (p.Asp138Gly)
|
rs137853221
|
|
NM_000515.5(GH1):c.456+1G>C
|
rs797044449
|
|
NM_000515.5(GH1):c.456+1G>T
|
rs797044449
|
|
NM_000515.5(GH1):c.456+5G>C
|
rs863223308
|
|
NM_000515.5(GH1):c.52del (p.Leu18fs)
|
|
|
NM_000515.5(GH1):c.59G>A (p.Trp20Ter)
|
rs137853219
|
|
NM_000823.4(GHRHR):c.665C>A (p.Ala222Glu)
|
rs121918120
|
|
NM_000823.4(GHRHR):c.967C>T (p.Gln323Ter)
|
rs2128598609
|
|
NM_000823.4(GHRHR):c.985A>G (p.Lys329Glu)
|
rs121918121
|
|
NM_002941.4(ROBO1):c.1690C>T (p.Pro564Ser)
|
rs1229827011
|
|
NM_002941.4(ROBO1):c.719G>C (p.Cys240Ser)
|
rs2081940708
|
|
NM_003106.4(SOX2):c.70_89del (p.Asn24fs)
|
rs398123693
|
|
NM_003865.3(HESX1):c.135G>A (p.Trp45Ter)
|
rs2107565760
|
|
NM_003865.3(HESX1):c.173del (p.Leu58fs)
|
rs2060466023
|
|
NM_003865.3(HESX1):c.241G>T (p.Glu81Ter)
|
|
|
NM_003865.3(HESX1):c.305_306del (p.Glu102fs)
|
|
|
NM_003865.3(HESX1):c.305_306dup (p.Leu103fs)
|
rs748460226
|
|
NM_003865.3(HESX1):c.389del (p.Asn130fs)
|
|
|
NM_003865.3(HESX1):c.450_451del (p.Asp150fs)
|
rs587776664
|
|
NM_003865.3(HESX1):c.525del (p.Asn178fs)
|
|
|
NM_003865.3(HESX1):c.77T>C (p.Ile26Thr)
|
rs28936416
|
|
NM_005121.3(MED13):c.1968-501_2181+590del
|
|
|
NM_005121.3(MED13):c.1968-866_2181+621del
|
|
|
NM_005121.3(MED13):c.1968-867_2181+479del
|
|
|
NM_005149.3(TBX19):c.158_159del (p.Arg53fs)
|
rs763818059
|
|
NM_005149.3(TBX19):c.257T>G (p.Met86Arg)
|
rs74315378
|
|
NM_005149.3(TBX19):c.265del (p.Leu89fs)
|
rs1558190339
|
|
NM_005149.3(TBX19):c.383C>T (p.Ser128Phe)
|
rs74315377
|
|
NM_005149.3(TBX19):c.568C>T (p.Gln190Ter)
|
rs1553289042
|
|
NM_005149.3(TBX19):c.665+1G>T
|
rs1649150256
|
|
NM_005149.3(TBX19):c.665+1del
|
rs1558192351
|
|
NM_005149.3(TBX19):c.688G>T (p.Glu230Ter)
|
rs930801019
|
|
NM_005149.3(TBX19):c.782del (p.Asn261fs)
|
rs730880274
|
|
NM_005634.3(SOX3):c.711_731dup (p.Ala248_Ser249insAlaAlaAlaAlaAlaAlaAla)
|
|
|
NM_006015.6(ARID1A):c.6625C>T (p.Gln2209Ter)
|
|
|
NM_006261.5(PROP1):c.109+1G>A
|
|
|
NM_006261.5(PROP1):c.109+1G>T
|
rs1214465435
|
|
NM_006261.5(PROP1):c.112_124del (p.Ser38fs)
|
rs587776682
|
|
NM_006261.5(PROP1):c.150_151del (p.Gly52fs)
|
rs587776681
|
|
NM_006261.5(PROP1):c.263T>C (p.Phe88Ser)
|
rs121917841
|
|
NM_006261.5(PROP1):c.301_302del (p.Leu102fs)
|
rs193922688
|
|
NM_006261.5(PROP1):c.310del (p.Arg104fs)
|
rs786204663
|
|
NM_006261.5(PROP1):c.46C>T (p.Arg16Ter)
|
rs140016178
|
|
NM_006261.5(PROP1):c.582G>A (p.Trp194Ter)
|
rs121917845
|
|
NM_014171.6(CRIPT):c.133_134insGG (p.Ala45fs)
|
rs587779356
|
|
NM_014171.6(CRIPT):c.141del (p.Phe47fs)
|
rs587779348
|
|
NM_017619.4(RNPC3):c.1228T>G (p.Phe410Val)
|
rs2101050974
|
|
NM_017619.4(RNPC3):c.1421del (p.Pro474fs)
|
rs1461692571
|
|
NM_017619.4(RNPC3):c.1449A>T (p.Leu483Phe)
|
rs2101053814
|
|
NM_017619.4(RNPC3):c.261dup (p.Leu88fs)
|
rs2101044148
|
|
NM_017619.4(RNPC3):c.443G>C (p.Gly148Ala)
|
rs2101044774
|
|
NM_017619.4(RNPC3):c.613C>T (p.Arg205Ter)
|
rs939646611
|
|
NM_033343.4(LHX4):c.1162C>A (p.Pro388Thr)
|
rs121912644
|
|
NM_033343.4(LHX4):c.293dup (p.Thr99fs)
|
rs587776662
|
|
NM_033343.4(LHX4):c.569T>G (p.Leu190Arg)
|
rs121912643
|
|
NM_033343.4(LHX4):c.607-1G>C
|
rs748268631
|
|
NM_033343.4(LHX4):c.628G>C (p.Ala210Pro)
|
rs121912641
|
|
NM_178138.6(LHX3):c.133A>T (p.Lys45Ter)
|
rs137854506
|
|
NM_178138.6(LHX3):c.214C>T (p.Arg72Ter)
|
rs774533927
|
|
NM_178138.6(LHX3):c.287_288delinsTCCT (p.Gly96fs)
|
rs137854504
|
|
NM_178138.6(LHX3):c.332A>G (p.Tyr111Cys)
|
rs104894117
|
|
NM_178138.6(LHX3):c.354C>A (p.Cys118Ter)
|
|
|
NM_178138.6(LHX3):c.452_454+20del
|
rs587776711
|
|
NM_178138.6(LHX3):c.629C>T (p.Ala210Val)
|
rs137854503
|
|
NM_178138.6(LHX3):c.672G>A (p.Trp224Ter)
|
rs137854505
|
|
NM_178138.6(LHX3):c.80-2A>G
|
rs2131036410
|
|
NM_178138.6(LHX3):c.80-530_776-454del
|
|
|
NM_178138.6(LHX3):c.96del (p.Gly33fs)
|
rs587776712
|
|
SOX3, DUP
|
|
|