Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.67181197delCA2629118546SMAD3c.74-44del (n.74-44del)
c.344-44del (n.344-44del)
c.659-44del (n.659-44del)
n.318del
c.527-44del (n.527-44del)
n.282+6613del
c.512-44del (n.512-44del)
 gnomAD v4
15g.67181196G>TCA2575767978SMAD3c.74-45G>T (n.74-45G>T)
c.344-45G>T (n.344-45G>T)
c.659-45G>T (n.659-45G>T)
n.317G>T
c.527-45G>T (n.527-45G>T)
n.282+6612G>T
c.512-45G>T (n.512-45G>T)
 gnomAD v4
15g.67181197G>ACA2629118552SMAD3c.74-44G>A (n.74-44G>A)
c.344-44G>A (n.344-44G>A)
c.659-44G>A (n.659-44G>A)
n.318G>A
c.527-44G>A (n.527-44G>A)
n.282+6613G>A
c.512-44G>A (n.512-44G>A)
 gnomAD v4
15g.67181197G>CCA2731020550SMAD3c.74-44G>C (n.74-44G>C)
c.344-44G>C (n.344-44G>C)
c.659-44G>C (n.659-44G>C)
n.318G>C
c.527-44G>C (n.527-44G>C)
n.282+6613G>C
c.512-44G>C (n.512-44G>C)
 dbSNP
15g.67181197G>TCA2575767979SMAD3c.74-44G>T (n.74-44G>T)
c.344-44G>T (n.344-44G>T)
c.659-44G>T (n.659-44G>T)
n.318G>T
c.527-44G>T (n.527-44G>T)
n.282+6613G>T
c.512-44G>T (n.512-44G>T)
 gnomAD v4
15g.67181197_67181204delinsGCTTGGGACA2184414393SMAD3c.74-44_74-37delinsGCTTGGGA (n.74-44_74-37delinsGCTTGGGA)
c.344-44_344-37delinsGCTTGGGA (n.344-44_344-37delinsGCTTGGGA)
c.659-44_659-37delinsGCTTGGGA (n.659-44_659-37delinsGCTTGGGA)
n.318_325delinsGCTTGGGA
c.527-44_527-37delinsGCTTGGGA (n.527-44_527-37delinsGCTTGGGA)
n.282+6613_282+6620delinsGCTTGGGA
c.512-44_512-37delinsGCTTGGGA (n.512-44_512-37delinsGCTTGGGA)
15g.67181198C>ACA2629118558SMAD3c.74-43C>A (n.74-43C>A)
c.344-43C>A (n.344-43C>A)
c.659-43C>A (n.659-43C>A)
n.319C>A
c.527-43C>A (n.527-43C>A)
n.282+6614C>A
c.512-43C>A (n.512-43C>A)
 gnomAD v4
15g.67181198C=CA2184414396SMAD3c.74-43C= (n.74-43C=)
c.344-43C= (n.344-43C=)
c.659-43C= (n.659-43C=)
n.319C=
c.527-43C= (n.527-43C=)
n.282+6614C=
c.512-43C= (n.512-43C=)
15g.67181198C>TCA062548SMAD3c.74-43C>T (n.74-43C>T)
c.344-43C>T (n.344-43C>T)
c.659-43C>T (n.659-43C>T)
n.319C>T
c.527-43C>T (n.527-43C>T)
n.282+6614C>T
c.512-43C>T (n.512-43C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67181199_67181205delCA618687732SMAD3c.74-42_74-36del (n.74-42_74-36del)
c.344-42_344-36del (n.344-42_344-36del)
c.659-42_659-36del (n.659-42_659-36del)
n.320_326del
c.527-42_527-36del (n.527-42_527-36del)
n.282+6615_282+6621del
c.512-42_512-36del (n.512-42_512-36del)
 dbSNP gnomAD v2 gnomAD v4
15g.67181200T>CCA2629118560SMAD3c.74-41T>C (n.74-41T>C)
c.344-41T>C (n.344-41T>C)
c.659-41T>C (n.659-41T>C)
n.321T>C
c.527-41T>C (n.527-41T>C)
n.282+6616T>C
c.512-41T>C (n.512-41T>C)
 gnomAD v4
15g.67181201G=CA2184414399SMAD3c.74-40G= (n.74-40G=)
c.344-40G= (n.344-40G=)
c.659-40G= (n.659-40G=)
n.322G=
c.527-40G= (n.527-40G=)
n.282+6617G=
c.512-40G= (n.512-40G=)
15g.67181201G>TCA970993489SMAD3c.74-40G>T (n.74-40G>T)
c.344-40G>T (n.344-40G>T)
c.659-40G>T (n.659-40G>T)
n.322G>T
c.527-40G>T (n.527-40G>T)
n.282+6617G>T
c.512-40G>T (n.512-40G>T)
 dbSNP gnomAD v3 gnomAD v4
15g.67181202G>TCA2629118562SMAD3c.74-39G>T (n.74-39G>T)
c.344-39G>T (n.344-39G>T)
c.659-39G>T (n.659-39G>T)
n.323G>T
c.527-39G>T (n.527-39G>T)
n.282+6618G>T
c.512-39G>T (n.512-39G>T)
 gnomAD v4
15g.67181203G>ACA2629118564SMAD3c.74-38G>A (n.74-38G>A)
c.344-38G>A (n.344-38G>A)
c.659-38G>A (n.659-38G>A)
n.324G>A
c.527-38G>A (n.527-38G>A)
n.282+6619G>A
c.512-38G>A (n.512-38G>A)
 gnomAD v4
15g.67181204A>GCA2629118566SMAD3c.74-37A>G (n.74-37A>G)
c.344-37A>G (n.344-37A>G)
c.659-37A>G (n.659-37A>G)
n.325A>G
c.527-37A>G (n.527-37A>G)
n.282+6620A>G
c.512-37A>G (n.512-37A>G)
 gnomAD v4
15g.67181205C>ACA2629118568SMAD3c.74-36C>A (n.74-36C>A)
c.344-36C>A (n.344-36C>A)
c.659-36C>A (n.659-36C>A)
n.326C>A
c.527-36C>A (n.527-36C>A)
n.282+6621C>A
c.512-36C>A (n.512-36C>A)
 gnomAD v4
15g.67181205C=CA2184414400SMAD3c.74-36C= (n.74-36C=)
c.344-36C= (n.344-36C=)
c.659-36C= (n.659-36C=)
n.326C=
c.527-36C= (n.527-36C=)
n.282+6621C=
c.512-36C= (n.512-36C=)
15g.67181205C>TCA618687733SMAD3c.74-36C>T (n.74-36C>T)
c.344-36C>T (n.344-36C>T)
c.659-36C>T (n.659-36C>T)
n.326C>T
c.527-36C>T (n.527-36C>T)
n.282+6621C>T
c.512-36C>T (n.512-36C>T)
 dbSNP gnomAD v2 gnomAD v4
15g.67181206A>GCA2629118571SMAD3c.74-35A>G (n.74-35A>G)
c.344-35A>G (n.344-35A>G)
c.659-35A>G (n.659-35A>G)
n.327A>G
c.527-35A>G (n.527-35A>G)
n.282+6622A>G
c.512-35A>G (n.512-35A>G)
 gnomAD v4
15g.67181207C>ACA2629118573SMAD3c.74-34C>A (n.74-34C>A)
c.344-34C>A (n.344-34C>A)
c.659-34C>A (n.659-34C>A)
n.328C>A
c.527-34C>A (n.527-34C>A)
n.282+6623C>A
c.512-34C>A (n.512-34C>A)
 gnomAD v4
15g.67181207C>TCA2575767980SMAD3c.74-34C>T (n.74-34C>T)
c.344-34C>T (n.344-34C>T)
c.659-34C>T (n.659-34C>T)
n.328C>T
c.527-34C>T (n.527-34C>T)
n.282+6623C>T
c.512-34C>T (n.512-34C>T)
 gnomAD v4
15g.67181208C>ACA2629118575SMAD3c.74-33C>A (n.74-33C>A)
c.344-33C>A (n.344-33C>A)
c.659-33C>A (n.659-33C>A)
n.329C>A
c.527-33C>A (n.527-33C>A)
n.282+6624C>A
c.512-33C>A (n.512-33C>A)
 gnomAD v4
15g.67181208C=CA2184414401SMAD3c.74-33C= (n.74-33C=)
c.344-33C= (n.344-33C=)
c.659-33C= (n.659-33C=)
n.329C=
c.527-33C= (n.527-33C=)
n.282+6624C=
c.512-33C= (n.512-33C=)
15g.67181208C>GCA2575767981SMAD3c.74-33C>G (n.74-33C>G)
c.344-33C>G (n.344-33C>G)
c.659-33C>G (n.659-33C>G)
n.329C>G
c.527-33C>G (n.527-33C>G)
n.282+6624C>G
c.512-33C>G (n.512-33C>G)
15g.67181208C>TCA618687734SMAD3c.74-33C>T (n.74-33C>T)
c.344-33C>T (n.344-33C>T)
c.659-33C>T (n.659-33C>T)
n.329C>T
c.527-33C>T (n.527-33C>T)
n.282+6624C>T
c.512-33C>T (n.512-33C>T)
 dbSNP gnomAD v2 gnomAD v4
15g.67181209C>ACA2629118581SMAD3c.74-32C>A (n.74-32C>A)
c.344-32C>A (n.344-32C>A)
c.659-32C>A (n.659-32C>A)
n.330C>A
c.527-32C>A (n.527-32C>A)
n.282+6625C>A
c.512-32C>A (n.512-32C>A)
 dbSNP gnomAD v4
15g.67181209C=CA2184414402SMAD3c.74-32C= (n.74-32C=)
c.344-32C= (n.344-32C=)
c.659-32C= (n.659-32C=)
n.330C=
c.527-32C= (n.527-32C=)
n.282+6625C=
c.512-32C= (n.512-32C=)
15g.67181209C>TCA618687735SMAD3c.74-32C>T (n.74-32C>T)
c.344-32C>T (n.344-32C>T)
c.659-32C>T (n.659-32C>T)
n.330C>T
c.527-32C>T (n.527-32C>T)
n.282+6625C>T
c.512-32C>T (n.512-32C>T)
 dbSNP gnomAD v2 gnomAD v4
15g.67181210A>GCA2629118586SMAD3c.74-31A>G (n.74-31A>G)
c.344-31A>G (n.344-31A>G)
c.659-31A>G (n.659-31A>G)
n.331A>G
c.527-31A>G (n.527-31A>G)
n.282+6626A>G
c.512-31A>G (n.512-31A>G)
 gnomAD v4
15g.67181211A=CA2184414404SMAD3c.74-30A= (n.74-30A=)
c.344-30A= (n.344-30A=)
c.659-30A= (n.659-30A=)
n.332A=
c.527-30A= (n.527-30A=)
n.282+6627A=
c.512-30A= (n.512-30A=)
15g.67181211A>GCA062544SMAD3c.74-30A>G (n.74-30A>G)
c.344-30A>G (n.344-30A>G)
c.659-30A>G (n.659-30A>G)
n.332A>G
c.527-30A>G (n.527-30A>G)
n.282+6627A>G
c.512-30A>G (n.512-30A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67181211A>TCA2184414407SMAD3c.74-30A>T (n.74-30A>T)
c.344-30A>T (n.344-30A>T)
c.659-30A>T (n.659-30A>T)
n.332A>T
c.527-30A>T (n.527-30A>T)
n.282+6627A>T
c.512-30A>T (n.512-30A>T)
 dbSNP
15g.67181212T>CCA2629118594SMAD3c.74-29T>C (n.74-29T>C)
c.344-29T>C (n.344-29T>C)
c.659-29T>C (n.659-29T>C)
n.333T>C
c.527-29T>C (n.527-29T>C)
n.282+6628T>C
c.512-29T>C (n.512-29T>C)
 gnomAD v4
15g.67181213G>ACA2629118600SMAD3c.74-28G>A (n.74-28G>A)
c.344-28G>A (n.344-28G>A)
c.659-28G>A (n.659-28G>A)
n.334G>A
c.527-28G>A (n.527-28G>A)
n.282+6629G>A
c.512-28G>A (n.512-28G>A)
 gnomAD v4
15g.67181213G>CCA2629118597SMAD3c.74-28G>C (n.74-28G>C)
c.344-28G>C (n.344-28G>C)
c.659-28G>C (n.659-28G>C)
n.334G>C
c.527-28G>C (n.527-28G>C)
n.282+6629G>C
c.512-28G>C (n.512-28G>C)
 gnomAD v4
15g.67181213G>TCA2629118599SMAD3c.74-28G>T (n.74-28G>T)
c.344-28G>T (n.344-28G>T)
c.659-28G>T (n.659-28G>T)
n.334G>T
c.527-28G>T (n.527-28G>T)
n.282+6629G>T
c.512-28G>T (n.512-28G>T)
 gnomAD v4
15g.67181214A=CA2184414408SMAD3c.74-27A= (n.74-27A=)
c.344-27A= (n.344-27A=)
c.659-27A= (n.659-27A=)
n.335A=
c.527-27A= (n.527-27A=)
n.282+6630A=
c.512-27A= (n.512-27A=)
15g.67181214A>CCA618687736SMAD3c.74-27A>C (n.74-27A>C)
c.344-27A>C (n.344-27A>C)
c.659-27A>C (n.659-27A>C)
n.335A>C
c.527-27A>C (n.527-27A>C)
n.282+6630A>C
c.512-27A>C (n.512-27A>C)
 dbSNP gnomAD v2 gnomAD v4
15g.67181215C>ACA2629118606SMAD3c.74-26C>A (n.74-26C>A)
c.344-26C>A (n.344-26C>A)
c.659-26C>A (n.659-26C>A)
n.336C>A
c.527-26C>A (n.527-26C>A)
n.282+6631C>A
c.512-26C>A (n.512-26C>A)
 gnomAD v4
15g.67181215C=CA2184414409SMAD3c.74-26C= (n.74-26C=)
c.344-26C= (n.344-26C=)
c.659-26C= (n.659-26C=)
n.336C=
c.527-26C= (n.527-26C=)
n.282+6631C=
c.512-26C= (n.512-26C=)
15g.67181215C>TCA062541SMAD3c.74-26C>T (n.74-26C>T)
c.344-26C>T (n.344-26C>T)
c.659-26C>T (n.659-26C>T)
n.336C>T
c.527-26C>T (n.527-26C>T)
n.282+6631C>T
c.512-26C>T (n.512-26C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.67181216C>ACA2629118611SMAD3c.74-25C>A (n.74-25C>A)
c.344-25C>A (n.344-25C>A)
c.659-25C>A (n.659-25C>A)
n.337C>A
c.527-25C>A (n.527-25C>A)
n.282+6632C>A
c.512-25C>A (n.512-25C>A)
 gnomAD v4
15g.67181217C=CA2184414411SMAD3c.74-24C= (n.74-24C=)
c.344-24C= (n.344-24C=)
c.659-24C= (n.659-24C=)
n.338C=
c.527-24C= (n.527-24C=)
n.282+6633C=
c.512-24C= (n.512-24C=)
15g.67181217C>TCA618687737SMAD3c.74-24C>T (n.74-24C>T)
c.344-24C>T (n.344-24C>T)
c.659-24C>T (n.659-24C>T)
n.338C>T
c.527-24C>T (n.527-24C>T)
n.282+6633C>T
c.512-24C>T (n.512-24C>T)
 dbSNP gnomAD v2 gnomAD v4
15g.67181218A=CA2184414413SMAD3c.74-23A= (n.74-23A=)
c.344-23A= (n.344-23A=)
c.659-23A= (n.659-23A=)
n.339A=
c.527-23A= (n.527-23A=)
n.282+6634A=
c.512-23A= (n.512-23A=)
15g.67181218A>CCA062539SMAD3c.74-23A>C (n.74-23A>C)
c.344-23A>C (n.344-23A>C)
c.659-23A>C (n.659-23A>C)
n.339A>C
c.527-23A>C (n.527-23A>C)
n.282+6634A>C
c.512-23A>C (n.512-23A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.67181218A>GCA2184414415SMAD3c.74-23A>G (n.74-23A>G)
c.344-23A>G (n.344-23A>G)
c.659-23A>G (n.659-23A>G)
n.339A>G
c.527-23A>G (n.527-23A>G)
n.282+6634A>G
c.512-23A>G (n.512-23A>G)
 dbSNP
15g.67181219G>ACA2731020553SMAD3c.74-22G>A (n.74-22G>A)
c.344-22G>A (n.344-22G>A)
c.659-22G>A (n.659-22G>A)
n.340G>A
c.527-22G>A (n.527-22G>A)
n.282+6635G>A
c.512-22G>A (n.512-22G>A)
 dbSNP
15g.67181221A=CA2184414416SMAD3c.74-20A= (n.74-20A=)
c.344-20A= (n.344-20A=)
c.659-20A= (n.659-20A=)
n.342A=
c.527-20A= (n.527-20A=)
n.282+6637A=
c.512-20A= (n.512-20A=)
15g.67181221A>TCA715080337SMAD3c.74-20A>T (n.74-20A>T)
c.344-20A>T (n.344-20A>T)
c.659-20A>T (n.659-20A>T)
n.342A>T
c.527-20A>T (n.527-20A>T)
n.282+6637A>T
c.512-20A>T (n.512-20A>T)
 dbSNP gnomAD v3 gnomAD v4
15g.67181222G>ACA062534SMAD3c.74-19G>A (n.74-19G>A)
c.344-19G>A (n.344-19G>A)
c.659-19G>A (n.659-19G>A)
n.343G>A
c.527-19G>A (n.527-19G>A)
n.282+6638G>A
c.512-19G>A (n.512-19G>A)
 dbSNP ExAC gnomAD v2
15g.67181222G=CA2184414418SMAD3c.74-19G= (n.74-19G=)
c.344-19G= (n.344-19G=)
c.659-19G= (n.659-19G=)
n.343G=
c.527-19G= (n.527-19G=)
n.282+6638G=
c.512-19G= (n.512-19G=)
15g.67181223C>ACA2629118623SMAD3c.74-18C>A (n.74-18C>A)
c.344-18C>A (n.344-18C>A)
c.659-18C>A (n.659-18C>A)
n.344C>A
c.527-18C>A (n.527-18C>A)
n.282+6639C>A
c.512-18C>A (n.512-18C>A)
 gnomAD v4
15g.67181223C=CA2184414421SMAD3c.74-18C= (n.74-18C=)
c.344-18C= (n.344-18C=)
c.659-18C= (n.659-18C=)
n.344C=
c.527-18C= (n.527-18C=)
n.282+6639C=
c.512-18C= (n.512-18C=)
15g.67181223C>TCA715080340SMAD3c.74-18C>T (n.74-18C>T)
c.344-18C>T (n.344-18C>T)
c.659-18C>T (n.659-18C>T)
n.344C>T
c.527-18C>T (n.527-18C>T)
n.282+6639C>T
c.512-18C>T (n.512-18C>T)
 dbSNP gnomAD v3 gnomAD v4
15g.67181226_67181229delCA2575767982SMAD3c.74-15_74-12del (n.74-15_74-12del)
c.344-15_344-12del (n.344-15_344-12del)
c.659-15_659-12del (n.659-15_659-12del)
n.347_350del
c.527-15_527-12del (n.527-15_527-12del)
n.282+6642_282+6645del
c.512-15_512-12del (n.512-15_512-12del)
15g.67181224C>ACA2629118626SMAD3c.74-17C>A (n.74-17C>A)
c.344-17C>A (n.344-17C>A)
c.659-17C>A (n.659-17C>A)
n.345C>A
c.527-17C>A (n.527-17C>A)
n.282+6640C>A
c.512-17C>A (n.512-17C>A)
 gnomAD v4
15g.67181224C>TCA2629118627SMAD3c.74-17C>T (n.74-17C>T)
c.344-17C>T (n.344-17C>T)
c.659-17C>T (n.659-17C>T)
n.345C>T
c.527-17C>T (n.527-17C>T)
n.282+6640C>T
c.512-17C>T (n.512-17C>T)
 gnomAD v4
15g.67181225C>ACA2629118630SMAD3c.74-16C>A (n.74-16C>A)
c.344-16C>A (n.344-16C>A)
c.659-16C>A (n.659-16C>A)
n.346C>A
c.527-16C>A (n.527-16C>A)
n.282+6641C>A
c.512-16C>A (n.512-16C>A)
 gnomAD v4
15g.67181229delCA2575767983SMAD3c.74-12del (n.74-12del)
c.344-12del (n.344-12del)
c.659-12del (n.659-12del)
n.350del
c.527-12del (n.527-12del)
n.282+6645del
c.512-12del (n.512-12del)
 ClinVar gnomAD v4
15g.67181228C>GCA2572325257SMAD3c.74-13C>G (n.74-13C>G)
c.344-13C>G (n.344-13C>G)
c.659-13C>G (n.659-13C>G)
n.349C>G
c.527-13C>G (n.527-13C>G)
n.282+6644C>G
c.512-13C>G (n.512-13C>G)
 gnomAD v4
15g.67181228C>TCA2629118631SMAD3c.74-13C>T (n.74-13C>T)
c.344-13C>T (n.344-13C>T)
c.659-13C>T (n.659-13C>T)
n.349C>T
c.527-13C>T (n.527-13C>T)
n.282+6644C>T
c.512-13C>T (n.512-13C>T)
 gnomAD v4
15g.67181229C>ACA2804552658SMAD3c.74-12C>A (n.74-12C>A)
c.344-12C>A (n.344-12C>A)
c.659-12C>A (n.659-12C>A)
n.350C>A
c.527-12C>A (n.527-12C>A)
n.282+6645C>A
c.512-12C>A (n.512-12C>A)
15g.67181229C>TCA2629118633SMAD3c.74-12C>T (n.74-12C>T)
c.344-12C>T (n.344-12C>T)
c.659-12C>T (n.659-12C>T)
n.350C>T
c.527-12C>T (n.527-12C>T)
n.282+6645C>T
c.512-12C>T (n.512-12C>T)
 gnomAD v4
15g.67181230T>ACA2629118634SMAD3c.74-11T>A (n.74-11T>A)
c.344-11T>A (n.344-11T>A)
c.659-11T>A (n.659-11T>A)
n.351T>A
c.527-11T>A (n.527-11T>A)
n.282+6646T>A
c.512-11T>A (n.512-11T>A)
 gnomAD v4
15g.67181230T>CCA715080341SMAD3c.74-11T>C (n.74-11T>C)
c.344-11T>C (n.344-11T>C)
c.659-11T>C (n.659-11T>C)
n.351T>C
c.527-11T>C (n.527-11T>C)
n.282+6646T>C
c.512-11T>C (n.512-11T>C)
 dbSNP
15g.67181230T=CA2184414423SMAD3c.74-11T= (n.74-11T=)
c.344-11T= (n.344-11T=)
c.659-11T= (n.659-11T=)
n.351T=
c.527-11T= (n.527-11T=)
n.282+6646T=
c.512-11T= (n.512-11T=)
15g.67181231G>CCA2184414425SMAD3c.74-10G>C (n.74-10G>C)
c.344-10G>C (n.344-10G>C)
c.659-10G>C (n.659-10G>C)
n.352G>C
c.527-10G>C (n.527-10G>C)
n.282+6647G>C
c.512-10G>C (n.512-10G>C)
 dbSNP
15g.67181231G=CA2184414424SMAD3c.74-10G= (n.74-10G=)
c.344-10G= (n.344-10G=)
c.659-10G= (n.659-10G=)
n.352G=
c.527-10G= (n.527-10G=)
n.282+6647G=
c.512-10G= (n.512-10G=)
15g.67181231G>TCA2804552659SMAD3c.74-10G>T (n.74-10G>T)
c.344-10G>T (n.344-10G>T)
c.659-10G>T (n.659-10G>T)
n.352G>T
c.527-10G>T (n.527-10G>T)
n.282+6647G>T
c.512-10G>T (n.512-10G>T)
15g.67181232_67181233insTACCTACTGCCACA2629118637SMAD3c.74-9_74-8insTACCTACTGCCA (n.74-9_74-8insTACCTACTGCCA)
c.344-9_344-8insTACCTACTGCCA (n.344-9_344-8insTACCTACTGCCA)
c.659-9_659-8insTACCTACTGCCA (n.659-9_659-8insTACCTACTGCCA)
n.353_354insTACCTACTGCCA
c.527-9_527-8insTACCTACTGCCA (n.527-9_527-8insTACCTACTGCCA)
n.282+6648_282+6649insTACCTACTGCCA
c.512-9_512-8insTACCTACTGCCA (n.512-9_512-8insTACCTACTGCCA)
 gnomAD v4
15g.67181234T>CCA645585099SMAD3c.74-7T>C (n.74-7T>C)
c.344-7T>C (n.344-7T>C)
c.659-7T>C (n.659-7T>C)
n.355T>C
c.527-7T>C (n.527-7T>C)
n.282+6650T>C
c.512-7T>C (n.512-7T>C)
 gnomAD v4 COSMIC COSMIC
15g.67181234_67181235insTACA2629118646SMAD3c.74-7_74-6insTA (n.74-7_74-6insTA)
c.344-7_344-6insTA (n.344-7_344-6insTA)
c.659-7_659-6insTA (n.659-7_659-6insTA)
n.355_356insTA
c.527-7_527-6insTA (n.527-7_527-6insTA)
n.282+6650_282+6651insTA
c.512-7_512-6insTA (n.512-7_512-6insTA)
 gnomAD v4
15g.67181235C=CA2184414428SMAD3c.74-6C= (n.74-6C=)
c.344-6C= (n.344-6C=)
c.659-6C= (n.659-6C=)
n.356C=
c.527-6C= (n.527-6C=)
n.282+6651C=
c.512-6C= (n.512-6C=)
15g.67181235C>TCA1139664047SMAD3c.74-6C>T (n.74-6C>T)
c.344-6C>T (n.344-6C>T)
c.659-6C>T (n.659-6C>T)
n.356C>T
c.527-6C>T (n.527-6C>T)
n.282+6651C>T
c.512-6C>T (n.512-6C>T)
 ClinVar dbSNP gnomAD v4
15g.67181236_67181237insTCA2629118650SMAD3c.74-5_74-4insT (n.74-5_74-4insT)
c.344-5_344-4insT (n.344-5_344-4insT)
c.659-5_659-4insT (n.659-5_659-4insT)
n.357_358insT
c.527-5_527-4insT (n.527-5_527-4insT)
n.282+6652_282+6653insT
c.512-5_512-4insT (n.512-5_512-4insT)
 gnomAD v4
15g.67181238C>TCA2629118651SMAD3c.74-3C>T (n.74-3C>T)
c.344-3C>T (n.344-3C>T)
c.659-3C>T (n.659-3C>T)
n.359C>T
c.527-3C>T (n.527-3C>T)
n.282+6654C>T
c.512-3C>T (n.512-3C>T)
 gnomAD v4
15g.67181239A>CCA392955815SMAD3c.74-2A>C (n.74-2A>C)
c.344-2A>C (n.344-2A>C)
c.659-2A>C (n.659-2A>C)
n.360A>C
c.527-2A>C (n.527-2A>C)
n.282+6655A>C
c.512-2A>C (n.512-2A>C)
15g.67181239A>GCA392955816SMAD3c.74-2A>G (n.74-2A>G)
c.344-2A>G (n.344-2A>G)
c.659-2A>G (n.659-2A>G)
n.360A>G
c.527-2A>G (n.527-2A>G)
n.282+6655A>G
c.512-2A>G (n.512-2A>G)
 ClinVar
15g.67181239A>TCA392955817SMAD3c.74-2A>T (n.74-2A>T)
c.344-2A>T (n.344-2A>T)
c.659-2A>T (n.659-2A>T)
n.360A>T
c.527-2A>T (n.527-2A>T)
n.282+6655A>T
c.512-2A>T (n.512-2A>T)
 gnomAD v4
15g.67181240G>ACA392955818SMAD3c.74-1G>A (n.74-1G>A)
c.344-1G>A (n.344-1G>A)
c.659-1G>A (n.659-1G>A)
n.361G>A
c.527-1G>A (n.527-1G>A)
n.282+6656G>A
c.512-1G>A (n.512-1G>A)
 COSMIC COSMIC
15g.67181240G>CCA392955819SMAD3c.74-1G>C (n.74-1G>C)
c.344-1G>C (n.344-1G>C)
c.659-1G>C (n.659-1G>C)
n.361G>C
c.527-1G>C (n.527-1G>C)
n.282+6656G>C
c.512-1G>C (n.512-1G>C)
15g.67181240G>TCA392955820SMAD3c.74-1G>T (n.74-1G>T)
c.344-1G>T (n.344-1G>T)
c.659-1G>T (n.659-1G>T)
n.361G>T
c.527-1G>T (n.527-1G>T)
n.282+6656G>T
c.512-1G>T (n.512-1G>T)
15g.67181240_67181241insCCTGTTCA2629118656SMAD3c.74-1_74insCCTGTT (n.74-1_74insCCTGTT)
c.344-1_344insCCTGTT (n.344-1_344insCCTGTT)
c.659-1_659insCCTGTT (n.659-1_659insCCTGTT)
n.361_362insCCTGTT
c.527-1_527insCCTGTT (n.527-1_527insCCTGTT)
n.282+6656_282+6657insCCTGTT
c.512-1_512insCCTGTT (n.512-1_512insCCTGTT)
 gnomAD v4
15g.67181241A>CCA392955823SMAD3c.74A>C (p.Asp25Ala)
c.344A>C (p.Asp115Ala)
c.659A>C (p.Asp220Ala)
n.362A>C
c.527A>C (p.Asp176Ala)
n.282+6657A>C
c.512A>C (p.Asp171Ala)
15g.67181241A>GCA392955822SMAD3c.74A>G (p.Asp25Gly)
c.344A>G (p.Asp115Gly)
c.659A>G (p.Asp220Gly)
n.362A>G
c.527A>G (p.Asp176Gly)
n.282+6657A>G
c.512A>G (p.Asp171Gly)
15g.67181241A>TCA392955821SMAD3c.74A>T (p.Asp25Val)
c.344A>T (p.Asp115Val)
c.659A>T (p.Asp220Val)
n.362A>T
c.527A>T (p.Asp176Val)
n.282+6657A>T
c.512A>T (p.Asp171Val)
15g.67181242C>ACA392955824SMAD3c.75C>A (p.Asp25Glu)
c.345C>A (p.Asp115Glu)
c.660C>A (p.Asp220Glu)
n.363C>A
c.528C>A (p.Asp176Glu)
n.282+6658C>A
c.513C>A (p.Asp171Glu)
 dbSNP
15g.67181242C=CA2184414430SMAD3c.75C= (p.Asp25=)
c.345C= (p.Asp115=)
c.660C= (p.Asp220=)
n.363C=
c.528C= (p.Asp176=)
n.282+6658C=
c.513C= (p.Asp171=)
15g.67181242C>GCA392955825SMAD3c.75C>G (p.Asp25Glu)
c.345C>G (p.Asp115Glu)
c.660C>G (p.Asp220Glu)
n.363C>G
c.528C>G (p.Asp176Glu)
n.282+6658C>G
c.513C>G (p.Asp171Glu)
15g.67181242C>TCA490914331SMAD3c.75C>T (p.Asp25=)
c.345C>T (p.Asp115=)
c.660C>T (p.Asp220=)
n.363C>T
c.528C>T (p.Asp176=)
n.282+6658C>T
c.513C>T (p.Asp171=)
 ClinVar dbSNP gnomAD v4
15g.67181243C>ACA392955826SMAD3c.76C>A (p.Leu26Met)
c.346C>A (p.Leu116Met)
c.661C>A (p.Leu221Met)
n.364C>A
c.529C>A (p.Leu177Met)
n.282+6659C>A
c.514C>A (p.Leu172Met)
15g.67181243C=CA2184414433SMAD3c.76C= (p.Leu26=)
c.346C= (p.Leu116=)
c.661C= (p.Leu221=)
n.364C=
c.529C= (p.Leu177=)
n.282+6659C=
c.514C= (p.Leu172=)
15g.67181243C>GCA392955827SMAD3c.76C>G (p.Leu26Val)
c.346C>G (p.Leu116Val)
c.661C>G (p.Leu221Val)
n.364C>G
c.529C>G (p.Leu177Val)
n.282+6659C>G
c.514C>G (p.Leu172Val)
 ClinVar dbSNP
15g.67181243C>TCA490914339SMAD3c.76C>T (p.Leu26=)
c.346C>T (p.Leu116=)
c.661C>T (p.Leu221=)
n.364C>T
c.529C>T (p.Leu177=)
n.282+6659C>T
c.514C>T (p.Leu172=)
 dbSNP gnomAD v4
15g.67181244T>ACA392955828SMAD3c.77T>A (p.Leu26Gln)
c.347T>A (p.Leu116Gln)
c.662T>A (p.Leu221Gln)
n.365T>A
c.530T>A (p.Leu177Gln)
n.282+6660T>A
c.515T>A (p.Leu172Gln)
15g.67181244T>CCA392955829SMAD3c.77T>C (p.Leu26Pro)
c.347T>C (p.Leu116Pro)
c.662T>C (p.Leu221Pro)
n.365T>C
c.530T>C (p.Leu177Pro)
n.282+6660T>C
c.515T>C (p.Leu172Pro)
15g.67181244T>GCA392955830SMAD3c.77T>G (p.Leu26Arg)
c.347T>G (p.Leu116Arg)
c.662T>G (p.Leu221Arg)
n.365T>G
c.530T>G (p.Leu177Arg)
n.282+6660T>G
c.515T>G (p.Leu172Arg)
15g.67181245G>ACA490914350SMAD3c.78G>A (p.Leu26=)
c.348G>A (p.Leu116=)
c.663G>A (p.Leu221=)
n.366G>A
c.531G>A (p.Leu177=)
n.282+6661G>A
c.516G>A (p.Leu172=)
 gnomAD v4
15g.67181245G>CCA490914351SMAD3c.78G>C (p.Leu26=)
c.348G>C (p.Leu116=)
c.663G>C (p.Leu221=)
n.366G>C
c.531G>C (p.Leu177=)
n.282+6661G>C
c.516G>C (p.Leu172=)
15g.67181245G>TCA490914353SMAD3c.78G>T (p.Leu26=)
c.348G>T (p.Leu116=)
c.663G>T (p.Leu221=)
n.366G>T
c.531G>T (p.Leu177=)
n.282+6661G>T
c.516G>T (p.Leu172=)
15g.67181246C>ACA392955831SMAD3c.79C>A (p.Gln27Lys)
c.349C>A (p.Gln117Lys)
c.664C>A (p.Gln222Lys)
n.367C>A
c.532C>A (p.Gln178Lys)
n.282+6662C>A
c.517C>A (p.Gln173Lys)
15g.67181246C>GCA392955832SMAD3c.79C>G (p.Gln27Glu)
c.349C>G (p.Gln117Glu)
c.664C>G (p.Gln222Glu)
n.367C>G
c.532C>G (p.Gln178Glu)
n.282+6662C>G
c.517C>G (p.Gln173Glu)
15g.67181246C>TCA392955833SMAD3c.79C>T (p.Gln27Ter)
c.349C>T (p.Gln117Ter)
c.664C>T (p.Gln222Ter)
n.367C>T
c.532C>T (p.Gln178Ter)
n.282+6662C>T
c.517C>T (p.Gln173Ter)
 dbSNP
15g.67181247A=CA2184414446SMAD3c.80A= (p.Gln27=)
c.350A= (p.Gln117=)
c.665A= (p.Gln222=)
n.368A=
c.533A= (p.Gln178=)
n.282+6663A=
c.518A= (p.Gln173=)
15g.67181247A>CCA392955834SMAD3c.80A>C (p.Gln27Pro)
c.350A>C (p.Gln117Pro)
c.665A>C (p.Gln222Pro)
n.368A>C
c.533A>C (p.Gln178Pro)
n.282+6663A>C
c.518A>C (p.Gln173Pro)
15g.67181247A>GCA062553SMAD3c.80A>G (p.Gln27Arg)
c.350A>G (p.Gln117Arg)
c.665A>G (p.Gln222Arg)
n.368A>G
c.533A>G (p.Gln178Arg)
n.282+6663A>G
c.518A>G (p.Gln173Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67181247A>TCA392955835SMAD3c.80A>T (p.Gln27Leu)
c.350A>T (p.Gln117Leu)
c.665A>T (p.Gln222Leu)
n.368A>T
c.533A>T (p.Gln178Leu)
n.282+6663A>T
c.518A>T (p.Gln173Leu)
 gnomAD v4
15g.67181248G>ACA490914366SMAD3c.81G>A (p.Gln27=)
c.351G>A (p.Gln117=)
c.666G>A (p.Gln222=)
n.369G>A
c.534G>A (p.Gln178=)
n.282+6664G>A
c.519G>A (p.Gln173=)
 ClinVar dbSNP gnomAD v4
15g.67181248G>CCA392955836SMAD3c.81G>C (p.Gln27His)
c.351G>C (p.Gln117His)
c.666G>C (p.Gln222His)
n.369G>C
c.534G>C (p.Gln178His)
n.282+6664G>C
c.519G>C (p.Gln173His)
15g.67181248G>TCA392955837SMAD3c.81G>T (p.Gln27His)
c.351G>T (p.Gln117His)
c.666G>T (p.Gln222His)
n.369G>T
c.534G>T (p.Gln178His)
n.282+6664G>T
c.519G>T (p.Gln173His)
15g.67181248_67181249delinsGCCA2184414448SMAD3c.81_82delinsGC (p.Gln27=)
c.351_352delinsGC (p.Gln117=)
c.666_667delinsGC (p.Gln222=)
n.369_370delinsGC
c.534_535delinsGC (p.Gln178=)
n.282+6664_282+6665delinsGC
c.519_520delinsGC (p.Gln173=)
15g.67181249C>ACA392955838SMAD3c.82C>A (p.Pro28Thr)
c.352C>A (p.Pro118Thr)
c.667C>A (p.Pro223Thr)
n.370C>A
c.535C>A (p.Pro179Thr)
n.282+6665C>A
c.520C>A (p.Pro174Thr)
15g.67181249C>GCA392955839SMAD3c.82C>G (p.Pro28Ala)
c.352C>G (p.Pro118Ala)
c.667C>G (p.Pro223Ala)
n.370C>G
c.535C>G (p.Pro179Ala)
n.282+6665C>G
c.520C>G (p.Pro174Ala)
15g.67181249C>TCA392955840SMAD3c.82C>T (p.Pro28Ser)
c.352C>T (p.Pro118Ser)
c.667C>T (p.Pro223Ser)
n.370C>T
c.535C>T (p.Pro179Ser)
n.282+6665C>T
c.520C>T (p.Pro174Ser)
15g.67181250delCA658820893SMAD3c.83del (p.Pro28GlnfsTer18)
c.353del (p.Pro118GlnfsTer18)
c.668del (p.Pro223GlnfsTer18)
n.371del
c.536del (p.Pro179GlnfsTer18)
n.282+6666del
c.521del (p.Pro174GlnfsTer18)
 ClinVar dbSNP
15g.67181250C>ACA392955841SMAD3c.83C>A (p.Pro28Gln)
c.353C>A (p.Pro118Gln)
c.668C>A (p.Pro223Gln)
n.371C>A
c.536C>A (p.Pro179Gln)
n.282+6666C>A
c.521C>A (p.Pro174Gln)
15g.67181250C>GCA392955842SMAD3c.83C>G (p.Pro28Arg)
c.353C>G (p.Pro118Arg)
c.668C>G (p.Pro223Arg)
n.371C>G
c.536C>G (p.Pro179Arg)
n.282+6666C>G
c.521C>G (p.Pro174Arg)
15g.67181250C>TCA392955843SMAD3c.83C>T (p.Pro28Leu)
c.353C>T (p.Pro118Leu)
c.668C>T (p.Pro223Leu)
n.371C>T
c.536C>T (p.Pro179Leu)
n.282+6666C>T
c.521C>T (p.Pro174Leu)
15g.67181251A>CCA490914377SMAD3c.84A>C (p.Pro28=)
c.354A>C (p.Pro118=)
c.669A>C (p.Pro223=)
n.372A>C
c.537A>C (p.Pro179=)
n.282+6667A>C
c.522A>C (p.Pro174=)
15g.67181251A>GCA490914378SMAD3c.84A>G (p.Pro28=)
c.354A>G (p.Pro118=)
c.669A>G (p.Pro223=)
n.372A>G
c.537A>G (p.Pro179=)
n.282+6667A>G
c.522A>G (p.Pro174=)
15g.67181251A>TCA490914379SMAD3c.84A>T (p.Pro28=)
c.354A>T (p.Pro118=)
c.669A>T (p.Pro223=)
n.372A>T
c.537A>T (p.Pro179=)
n.282+6667A>T
c.522A>T (p.Pro174=)
15g.67181252G>ACA392955844SMAD3c.85G>A (p.Val29Ile)
c.355G>A (p.Val119Ile)
c.670G>A (p.Val224Ile)
n.373G>A
c.538G>A (p.Val180Ile)
n.282+6668G>A
c.523G>A (p.Val175Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.67181252G>CCA392955845SMAD3c.85G>C (p.Val29Leu)
c.355G>C (p.Val119Leu)
c.670G>C (p.Val224Leu)
n.373G>C
c.538G>C (p.Val180Leu)
n.282+6668G>C
c.523G>C (p.Val175Leu)
15g.67181252G=CA2184414453SMAD3c.85G= (p.Val29=)
c.355G= (p.Val119=)
c.670G= (p.Val224=)
n.373G=
c.538G= (p.Val180=)
n.282+6668G=
c.523G= (p.Val175=)
15g.67181252G>TCA392955846SMAD3c.85G>T (p.Val29Phe)
c.355G>T (p.Val119Phe)
c.670G>T (p.Val224Phe)
n.373G>T
c.538G>T (p.Val180Phe)
n.282+6668G>T
c.523G>T (p.Val175Phe)
15g.67181253T>ACA392955847SMAD3c.86T>A (p.Val29Asp)
c.356T>A (p.Val119Asp)
c.671T>A (p.Val224Asp)
n.374T>A
c.539T>A (p.Val180Asp)
n.282+6669T>A
c.524T>A (p.Val175Asp)
15g.67181253T>CCA392955848SMAD3c.86T>C (p.Val29Ala)
c.356T>C (p.Val119Ala)
c.671T>C (p.Val224Ala)
n.374T>C
c.539T>C (p.Val180Ala)
n.282+6669T>C
c.524T>C (p.Val175Ala)
15g.67181253T>GCA392955849SMAD3c.86T>G (p.Val29Gly)
c.356T>G (p.Val119Gly)
c.671T>G (p.Val224Gly)
n.374T>G
c.539T>G (p.Val180Gly)
n.282+6669T>G
c.524T>G (p.Val175Gly)
15g.67181254T>ACA490914402SMAD3c.87T>A (p.Val29=)
c.357T>A (p.Val119=)
c.672T>A (p.Val224=)
n.375T>A
c.540T>A (p.Val180=)
n.282+6670T>A
c.525T>A (p.Val175=)
15g.67181254T>CCA272385063SMAD3c.87T>C (p.Val29=)
c.357T>C (p.Val119=)
c.672T>C (p.Val224=)
n.375T>C
c.540T>C (p.Val180=)
n.282+6670T>C
c.525T>C (p.Val175=)
 ClinVar dbSNP gnomAD v4
15g.67181254T>GCA490914397SMAD3c.87T>G (p.Val29=)
c.357T>G (p.Val119=)
c.672T>G (p.Val224=)
n.375T>G
c.540T>G (p.Val180=)
n.282+6670T>G
c.525T>G (p.Val175=)
15g.67181254T=CA2184414456SMAD3c.87T= (p.Val29=)
c.357T= (p.Val119=)
c.672T= (p.Val224=)
n.375T=
c.540T= (p.Val180=)
n.282+6670T=
c.525T= (p.Val175=)
15g.67181255A>CCA392955852SMAD3c.88A>C (p.Thr30Pro)
c.358A>C (p.Thr120Pro)
c.673A>C (p.Thr225Pro)
n.376A>C
c.541A>C (p.Thr181Pro)
n.282+6671A>C
c.526A>C (p.Thr176Pro)
15g.67181255A>GCA392955851SMAD3c.88A>G (p.Thr30Ala)
c.358A>G (p.Thr120Ala)
c.673A>G (p.Thr225Ala)
n.376A>G
c.541A>G (p.Thr181Ala)
n.282+6671A>G
c.526A>G (p.Thr176Ala)
15g.67181255A>TCA392955850SMAD3c.88A>T (p.Thr30Ser)
c.358A>T (p.Thr120Ser)
c.673A>T (p.Thr225Ser)
n.376A>T
c.541A>T (p.Thr181Ser)
n.282+6671A>T
c.526A>T (p.Thr176Ser)
15g.67181256C>ACA392955853SMAD3c.89C>A (p.Thr30Asn)
c.359C>A (p.Thr120Asn)
c.674C>A (p.Thr225Asn)
n.377C>A
c.542C>A (p.Thr181Asn)
n.282+6672C>A
c.527C>A (p.Thr176Asn)
 dbSNP gnomAD v4
15g.67181256C=CA2184414461SMAD3c.89C= (p.Thr30=)
c.359C= (p.Thr120=)
c.674C= (p.Thr225=)
n.377C=
c.542C= (p.Thr181=)
n.282+6672C=
c.527C= (p.Thr176=)
15g.67181256C>GCA392955854SMAD3c.89C>G (p.Thr30Ser)
c.359C>G (p.Thr120Ser)
c.674C>G (p.Thr225Ser)
n.377C>G
c.542C>G (p.Thr181Ser)
n.282+6672C>G
c.527C>G (p.Thr176Ser)
15g.67181256C>TCA392955855SMAD3c.89C>T (p.Thr30Ile)
c.359C>T (p.Thr120Ile)
c.674C>T (p.Thr225Ile)
n.377C>T
c.542C>T (p.Thr181Ile)
n.282+6672C>T
c.527C>T (p.Thr176Ile)
 dbSNP
15g.67181257C>ACA490914414SMAD3c.90C>A (p.Thr30=)
c.360C>A (p.Thr120=)
c.675C>A (p.Thr225=)
n.378C>A
c.543C>A (p.Thr181=)
n.282+6673C>A
c.528C>A (p.Thr176=)
15g.67181257C=CA2184414464SMAD3c.90C= (p.Thr30=)
c.360C= (p.Thr120=)
c.675C= (p.Thr225=)
n.378C=
c.543C= (p.Thr181=)
n.282+6673C=
c.528C= (p.Thr176=)
15g.67181257C>GCA490914416SMAD3c.90C>G (p.Thr30=)
c.360C>G (p.Thr120=)
c.675C>G (p.Thr225=)
n.378C>G
c.543C>G (p.Thr181=)
n.282+6673C>G
c.528C>G (p.Thr176=)
 gnomAD v4 COSMIC COSMIC
15g.67181257C>TCA062562SMAD3c.90C>T (p.Thr30=)
c.360C>T (p.Thr120=)
c.675C>T (p.Thr225=)
n.378C>T
c.543C>T (p.Thr181=)
n.282+6673C>T
c.528C>T (p.Thr176=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.67181258T>ACA392955856SMAD3c.91T>A (p.Tyr31Asn)
c.361T>A (p.Tyr121Asn)
c.676T>A (p.Tyr226Asn)
n.379T>A
c.544T>A (p.Tyr182Asn)
n.282+6674T>A
c.529T>A (p.Tyr177Asn)
15g.67181258T>CCA392955857SMAD3c.91T>C (p.Tyr31His)
c.361T>C (p.Tyr121His)
c.676T>C (p.Tyr226His)
n.379T>C
c.544T>C (p.Tyr182His)
n.282+6674T>C
c.529T>C (p.Tyr177His)
 ClinVar dbSNP
15g.67181258T>GCA392955858SMAD3c.91T>G (p.Tyr31Asp)
c.361T>G (p.Tyr121Asp)
c.676T>G (p.Tyr226Asp)
n.379T>G
c.544T>G (p.Tyr182Asp)
n.282+6674T>G
c.529T>G (p.Tyr177Asp)
15g.67181258T=CA2184414469SMAD3c.91T= (p.Tyr31=)
c.361T= (p.Tyr121=)
c.676T= (p.Tyr226=)
n.379T=
c.544T= (p.Tyr182=)
n.282+6674T=
c.529T= (p.Tyr177=)
15g.67181259A>CCA392955859SMAD3c.92A>C (p.Tyr31Ser)
c.362A>C (p.Tyr121Ser)
c.677A>C (p.Tyr226Ser)
n.380A>C
c.545A>C (p.Tyr182Ser)
n.282+6675A>C
c.530A>C (p.Tyr177Ser)
 ClinVar gnomAD v4
15g.67181259A>GCA392955860SMAD3c.92A>G (p.Tyr31Cys)
c.362A>G (p.Tyr121Cys)
c.677A>G (p.Tyr226Cys)
n.380A>G
c.545A>G (p.Tyr182Cys)
n.282+6675A>G
c.530A>G (p.Tyr177Cys)
15g.67181259A>TCA392955861SMAD3c.92A>T (p.Tyr31Phe)
c.362A>T (p.Tyr121Phe)
c.677A>T (p.Tyr226Phe)
n.380A>T
c.545A>T (p.Tyr182Phe)
n.282+6675A>T
c.530A>T (p.Tyr177Phe)
15g.67181259dupCA490914421SMAD3c.92dup (p.Tyr31Ter)
c.362dup (p.Tyr121Ter)
c.677dup (p.Tyr226Ter)
n.380dup
c.545dup (p.Tyr182Ter)
n.282+6675dup
c.530dup (p.Tyr177Ter)
 COSMIC COSMIC
15g.67181260C>ACA392955862SMAD3c.93C>A (p.Tyr31Ter)
c.363C>A (p.Tyr121Ter)
c.678C>A (p.Tyr226Ter)
n.381C>A
c.546C>A (p.Tyr182Ter)
n.282+6676C>A
c.531C>A (p.Tyr177Ter)
 COSMIC COSMIC
15g.67181260C=CA2184414473SMAD3c.93C= (p.Tyr31=)
c.363C= (p.Tyr121=)
c.678C= (p.Tyr226=)
n.381C=
c.546C= (p.Tyr182=)
n.282+6676C=
c.531C= (p.Tyr177=)
15g.67181260C>GCA392955863SMAD3c.93C>G (p.Tyr31Ter)
c.363C>G (p.Tyr121Ter)
c.678C>G (p.Tyr226Ter)
n.381C>G
c.546C>G (p.Tyr182Ter)
n.282+6676C>G
c.531C>G (p.Tyr177Ter)
15g.67181260C>TCA272385071SMAD3c.93C>T (p.Tyr31=)
c.363C>T (p.Tyr121=)
c.678C>T (p.Tyr226=)
n.381C>T
c.546C>T (p.Tyr182=)
n.282+6676C>T
c.531C>T (p.Tyr177=)
 ClinVar dbSNP gnomAD v4
15g.67181261delCA2695220924SMAD3c.94del (p.Cys32AlafsTer14)
c.364del (p.Cys122AlafsTer14)
c.679del (p.Cys227AlafsTer14)
n.382del
c.547del (p.Cys183AlafsTer14)
n.282+6677del
c.532del (p.Cys178AlafsTer14)
15g.67181261T>ACA392955866SMAD3c.94T>A (p.Cys32Ser)
c.364T>A (p.Cys122Ser)
c.679T>A (p.Cys227Ser)
n.382T>A
c.547T>A (p.Cys183Ser)
n.282+6677T>A
c.532T>A (p.Cys178Ser)
15g.67181261T>CCA392955865SMAD3c.94T>C (p.Cys32Arg)
c.364T>C (p.Cys122Arg)
c.679T>C (p.Cys227Arg)
n.382T>C
c.547T>C (p.Cys183Arg)
n.282+6677T>C
c.532T>C (p.Cys178Arg)
 dbSNP
15g.67181261T>GCA392955864SMAD3c.94T>G (p.Cys32Gly)
c.364T>G (p.Cys122Gly)
c.679T>G (p.Cys227Gly)
n.382T>G
c.547T>G (p.Cys183Gly)
n.282+6677T>G
c.532T>G (p.Cys178Gly)
 ClinVar dbSNP
15g.67181261T=CA2184414478SMAD3c.94T= (p.Cys32=)
c.364T= (p.Cys122=)
c.679T= (p.Cys227=)
n.382T=
c.547T= (p.Cys183=)
n.282+6677T=
c.532T= (p.Cys178=)
15g.67181262G>ACA392955867SMAD3c.95G>A (p.Cys32Tyr)
c.365G>A (p.Cys122Tyr)
c.680G>A (p.Cys227Tyr)
n.383G>A
c.548G>A (p.Cys183Tyr)
n.282+6678G>A
c.533G>A (p.Cys178Tyr)
15g.67181262G>CCA392955868SMAD3c.95G>C (p.Cys32Ser)
c.365G>C (p.Cys122Ser)
c.680G>C (p.Cys227Ser)
n.383G>C
c.548G>C (p.Cys183Ser)
n.282+6678G>C
c.533G>C (p.Cys178Ser)
15g.67181262G>TCA392955869SMAD3c.95G>T (p.Cys32Phe)
c.365G>T (p.Cys122Phe)
c.680G>T (p.Cys227Phe)
n.383G>T
c.548G>T (p.Cys183Phe)
n.282+6678G>T
c.533G>T (p.Cys178Phe)
15g.67181263C>ACA392955870SMAD3c.96C>A (p.Cys32Ter)
c.366C>A (p.Cys122Ter)
c.681C>A (p.Cys227Ter)
n.384C>A
c.549C>A (p.Cys183Ter)
n.282+6679C>A
c.534C>A (p.Cys178Ter)
15g.67181263C=CA2184414487SMAD3c.96C= (p.Cys32=)
c.366C= (p.Cys122=)
c.681C= (p.Cys227=)
n.384C=
c.549C= (p.Cys183=)
n.282+6679C=
c.534C= (p.Cys178=)
15g.67181263C>GCA392955871SMAD3c.96C>G (p.Cys32Trp)
c.366C>G (p.Cys122Trp)
c.681C>G (p.Cys227Trp)
n.384C>G
c.549C>G (p.Cys183Trp)
n.282+6679C>G
c.534C>G (p.Cys178Trp)
15g.67181263C>TCA062565SMAD3c.96C>T (p.Cys32=)
c.366C>T (p.Cys122=)
c.681C>T (p.Cys227=)
n.384C>T
c.549C>T (p.Cys183=)
n.282+6679C>T
c.534C>T (p.Cys178=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.67181264G>ACA320833SMAD3c.97G>A (p.Glu33Lys)
c.367G>A (p.Glu123Lys)
c.682G>A (p.Glu228Lys)
n.385G>A
c.550G>A (p.Glu184Lys)
n.282+6680G>A
c.535G>A (p.Glu179Lys)
 ClinVar dbSNP gnomAD v4 COSMIC
15g.67181264G>CCA392955878SMAD3c.97G>C (p.Glu33Gln)
c.367G>C (p.Glu123Gln)
c.682G>C (p.Glu228Gln)
n.385G>C
c.550G>C (p.Glu184Gln)
n.282+6680G>C
c.535G>C (p.Glu179Gln)
15g.67181264G=CA2184414535SMAD3c.97G= (p.Glu33=)
c.367G= (p.Glu123=)
c.682G= (p.Glu228=)
n.385G=
c.550G= (p.Glu184=)
n.282+6680G=
c.535G= (p.Glu179=)
15g.67181264G>TCA392955879SMAD3c.97G>T (p.Glu33Ter)
c.367G>T (p.Glu123Ter)
c.682G>T (p.Glu228Ter)
n.385G>T
c.550G>T (p.Glu184Ter)
n.282+6680G>T
c.535G>T (p.Glu179Ter)
 dbSNP gnomAD v4
15g.67181265A>CCA392955882SMAD3c.98A>C (p.Glu33Ala)
c.368A>C (p.Glu123Ala)
c.683A>C (p.Glu228Ala)
n.386A>C
c.551A>C (p.Glu184Ala)
n.282+6681A>C
c.536A>C (p.Glu179Ala)
15g.67181265A>GCA392955884SMAD3c.98A>G (p.Glu33Gly)
c.368A>G (p.Glu123Gly)
c.683A>G (p.Glu228Gly)
n.386A>G
c.551A>G (p.Glu184Gly)
n.282+6681A>G
c.536A>G (p.Glu179Gly)
15g.67181265A>TCA392955885SMAD3c.98A>T (p.Glu33Val)
c.368A>T (p.Glu123Val)
c.683A>T (p.Glu228Val)
n.386A>T
c.551A>T (p.Glu184Val)
n.282+6681A>T
c.536A>T (p.Glu179Val)
15g.67181266G>ACA490914444SMAD3c.99G>A (p.Glu33=)
c.369G>A (p.Glu123=)
c.684G>A (p.Glu228=)
n.387G>A
c.552G>A (p.Glu184=)
n.282+6682G>A
c.537G>A (p.Glu179=)
 gnomAD v4
15g.67181266G>CCA392955887SMAD3c.99G>C (p.Glu33Asp)
c.369G>C (p.Glu123Asp)
c.684G>C (p.Glu228Asp)
n.387G>C
c.552G>C (p.Glu184Asp)
n.282+6682G>C
c.537G>C (p.Glu179Asp)
15g.67181266G>TCA392955889SMAD3c.99G>T (p.Glu33Asp)
c.369G>T (p.Glu123Asp)
c.684G>T (p.Glu228Asp)
n.387G>T
c.552G>T (p.Glu184Asp)
n.282+6682G>T
c.537G>T (p.Glu179Asp)
15g.67181266_67181267delinsGCCA2184414538SMAD3c.99_100delinsGC (p.Glu33=)
c.369_370delinsGC (p.Glu123=)
c.684_685delinsGC (p.Glu228=)
n.387_388delinsGC
c.552_553delinsGC (p.Glu184=)
n.282+6682_282+6683delinsGC
c.537_538delinsGC (p.Glu179=)
15g.67181267C>ACA392955893SMAD3c.100C>A (p.Pro34Thr)
c.370C>A (p.Pro124Thr)
c.685C>A (p.Pro229Thr)
n.388C>A
c.553C>A (p.Pro185Thr)
n.282+6683C>A
c.538C>A (p.Pro180Thr)
15g.67181267C>GCA392955892SMAD3c.100C>G (p.Pro34Ala)
c.370C>G (p.Pro124Ala)
c.685C>G (p.Pro229Ala)
n.388C>G
c.553C>G (p.Pro185Ala)
n.282+6683C>G
c.538C>G (p.Pro180Ala)
 dbSNP
15g.67181267C>TCA392955891SMAD3c.100C>T (p.Pro34Ser)
c.370C>T (p.Pro124Ser)
c.685C>T (p.Pro229Ser)
n.388C>T
c.553C>T (p.Pro185Ser)
n.282+6683C>T
c.538C>T (p.Pro180Ser)
 dbSNP
15g.67181268delCA062570SMAD3c.101del (p.Pro34ArgfsTer12)
c.371del (p.Pro124ArgfsTer12)
c.686del (p.Pro229ArgfsTer12)
n.389del
c.554del (p.Pro185ArgfsTer12)
n.282+6684del
c.539del (p.Pro180ArgfsTer12)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67181268C>ACA392955895SMAD3c.101C>A (p.Pro34Gln)
c.371C>A (p.Pro124Gln)
c.686C>A (p.Pro229Gln)
n.389C>A
c.554C>A (p.Pro185Gln)
n.282+6684C>A
c.539C>A (p.Pro180Gln)
15g.67181268C=CA2184414542SMAD3c.101C= (p.Pro34=)
c.371C= (p.Pro124=)
c.686C= (p.Pro229=)
n.389C=
c.554C= (p.Pro185=)
n.282+6684C=
c.539C= (p.Pro180=)
15g.67181268C>GCA392955897SMAD3c.101C>G (p.Pro34Arg)
c.371C>G (p.Pro124Arg)
c.686C>G (p.Pro229Arg)
n.389C>G
c.554C>G (p.Pro185Arg)
n.282+6684C>G
c.539C>G (p.Pro180Arg)
15g.67181268C>TCA392955898SMAD3c.101C>T (p.Pro34Leu)
c.371C>T (p.Pro124Leu)
c.686C>T (p.Pro229Leu)
n.389C>T
c.554C>T (p.Pro185Leu)
n.282+6684C>T
c.539C>T (p.Pro180Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.67181269G>ACA062574SMAD3c.102G>A (p.Pro34=)
c.372G>A (p.Pro124=)
c.687G>A (p.Pro229=)
n.390G>A
c.555G>A (p.Pro185=)
n.282+6685G>A
c.540G>A (p.Pro180=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.67181269G>CCA490914453SMAD3c.102G>C (p.Pro34=)
c.372G>C (p.Pro124=)
c.687G>C (p.Pro229=)
n.390G>C
c.555G>C (p.Pro185=)
n.282+6685G>C
c.540G>C (p.Pro180=)
 dbSNP
15g.67181269G=CA2184414547SMAD3c.102G= (p.Pro34=)
c.372G= (p.Pro124=)
c.687G= (p.Pro229=)
n.390G=
c.555G= (p.Pro185=)
n.282+6685G=
c.540G= (p.Pro180=)
15g.67181269G>TCA490914454SMAD3c.102G>T (p.Pro34=)
c.372G>T (p.Pro124=)
c.687G>T (p.Pro229=)
n.390G>T
c.555G>T (p.Pro185=)
n.282+6685G>T
c.540G>T (p.Pro180=)
15g.67181270G>ACA392955905SMAD3c.103G>A (p.Ala35Thr)
c.373G>A (p.Ala125Thr)
c.688G>A (p.Ala230Thr)
n.391G>A
c.556G>A (p.Ala186Thr)
n.282+6686G>A
c.541G>A (p.Ala181Thr)
 dbSNP
15g.67181270G>CCA392955903SMAD3c.103G>C (p.Ala35Pro)
c.373G>C (p.Ala125Pro)
c.688G>C (p.Ala230Pro)
n.391G>C
c.556G>C (p.Ala186Pro)
n.282+6686G>C
c.541G>C (p.Ala181Pro)
15g.67181270G>TCA392955901SMAD3c.103G>T (p.Ala35Ser)
c.373G>T (p.Ala125Ser)
c.688G>T (p.Ala230Ser)
n.391G>T
c.556G>T (p.Ala186Ser)
n.282+6686G>T
c.541G>T (p.Ala181Ser)
15g.67181271C>ACA392955907SMAD3c.104C>A (p.Ala35Asp)
c.374C>A (p.Ala125Asp)
c.689C>A (p.Ala230Asp)
n.392C>A
c.557C>A (p.Ala186Asp)
n.282+6687C>A
c.542C>A (p.Ala181Asp)
15g.67181271C>GCA392955908SMAD3c.104C>G (p.Ala35Gly)
c.374C>G (p.Ala125Gly)
c.689C>G (p.Ala230Gly)
n.392C>G
c.557C>G (p.Ala186Gly)
n.282+6687C>G
c.542C>G (p.Ala181Gly)
15g.67181271C>TCA392955910SMAD3c.104C>T (p.Ala35Val)
c.374C>T (p.Ala125Val)
c.689C>T (p.Ala230Val)
n.392C>T
c.557C>T (p.Ala186Val)
n.282+6687C>T
c.542C>T (p.Ala181Val)
15g.67181272C>ACA490914470SMAD3c.105C>A (p.Ala35=)
c.375C>A (p.Ala125=)
c.690C>A (p.Ala230=)
n.393C>A
c.558C>A (p.Ala186=)
n.282+6688C>A
c.543C>A (p.Ala181=)
15g.67181272C=CA2184414551SMAD3c.105C= (p.Ala35=)
c.375C= (p.Ala125=)
c.690C= (p.Ala230=)
n.393C=
c.558C= (p.Ala186=)
n.282+6688C=
c.543C= (p.Ala181=)
15g.67181272C>GCA490914468SMAD3c.105C>G (p.Ala35=)
c.375C>G (p.Ala125=)
c.690C>G (p.Ala230=)
n.393C>G
c.558C>G (p.Ala186=)
n.282+6688C>G
c.543C>G (p.Ala181=)
15g.67181272C>TCA490914469SMAD3c.105C>T (p.Ala35=)
c.375C>T (p.Ala125=)
c.690C>T (p.Ala230=)
n.393C>T
c.558C>T (p.Ala186=)
n.282+6688C>T
c.543C>T (p.Ala181=)
 dbSNP
15g.67181273T>ACA392955912SMAD3c.106T>A (p.Phe36Ile)
c.376T>A (p.Phe126Ile)
c.691T>A (p.Phe231Ile)
n.394T>A
c.559T>A (p.Phe187Ile)
n.282+6689T>A
c.544T>A (p.Phe182Ile)
15g.67181273T>CCA392955913SMAD3c.106T>C (p.Phe36Leu)
c.376T>C (p.Phe126Leu)
c.691T>C (p.Phe231Leu)
n.394T>C
c.559T>C (p.Phe187Leu)
n.282+6689T>C
c.544T>C (p.Phe182Leu)
15g.67181273T>GCA392955914SMAD3c.106T>G (p.Phe36Val)
c.376T>G (p.Phe126Val)
c.691T>G (p.Phe231Val)
n.394T>G
c.559T>G (p.Phe187Val)
n.282+6689T>G
c.544T>G (p.Phe182Val)
15g.67181274T>ACA392955916SMAD3c.107T>A (p.Phe36Tyr)
c.377T>A (p.Phe126Tyr)
c.692T>A (p.Phe231Tyr)
n.395T>A
c.560T>A (p.Phe187Tyr)
n.282+6690T>A
c.545T>A (p.Phe182Tyr)
15g.67181274T>CCA392955919SMAD3c.107T>C (p.Phe36Ser)
c.377T>C (p.Phe126Ser)
c.692T>C (p.Phe231Ser)
n.395T>C
c.560T>C (p.Phe187Ser)
n.282+6690T>C
c.545T>C (p.Phe182Ser)
15g.67181274T>GCA392955918SMAD3c.107T>G (p.Phe36Cys)
c.377T>G (p.Phe126Cys)
c.692T>G (p.Phe231Cys)
n.395T>G
c.560T>G (p.Phe187Cys)
n.282+6690T>G
c.545T>G (p.Phe182Cys)
15g.67181275C>ACA392955921SMAD3c.108C>A (p.Phe36Leu)
c.378C>A (p.Phe126Leu)
c.693C>A (p.Phe231Leu)
n.396C>A
c.561C>A (p.Phe187Leu)
n.282+6691C>A
c.546C>A (p.Phe182Leu)
15g.67181275C>GCA392955923SMAD3c.108C>G (p.Phe36Leu)
c.378C>G (p.Phe126Leu)
c.693C>G (p.Phe231Leu)
n.396C>G
c.561C>G (p.Phe187Leu)
n.282+6691C>G
c.546C>G (p.Phe182Leu)
15g.67181275C>TCA490914482SMAD3c.108C>T (p.Phe36=)
c.378C>T (p.Phe126=)
c.693C>T (p.Phe231=)
n.396C>T
c.561C>T (p.Phe187=)
n.282+6691C>T
c.546C>T (p.Phe182=)
 gnomAD v4
15g.67181276T>ACA392955925SMAD3c.109T>A (p.Trp37Arg)
c.379T>A (p.Trp127Arg)
c.694T>A (p.Trp232Arg)
n.397T>A
c.562T>A (p.Trp188Arg)
n.282+6692T>A
c.547T>A (p.Trp183Arg)
15g.67181276T>CCA392955926SMAD3c.109T>C (p.Trp37Arg)
c.379T>C (p.Trp127Arg)
c.694T>C (p.Trp232Arg)
n.397T>C
c.562T>C (p.Trp188Arg)
n.282+6692T>C
c.547T>C (p.Trp183Arg)
15g.67181276T>GCA392955928SMAD3c.109T>G (p.Trp37Gly)
c.379T>G (p.Trp127Gly)
c.694T>G (p.Trp232Gly)
n.397T>G
c.562T>G (p.Trp188Gly)
n.282+6692T>G
c.547T>G (p.Trp183Gly)
15g.67181277G>ACA392955934SMAD3c.110G>A (p.Trp37Ter)
c.380G>A (p.Trp127Ter)
c.695G>A (p.Trp232Ter)
n.398G>A
c.563G>A (p.Trp188Ter)
n.282+6693G>A
c.548G>A (p.Trp183Ter)
 ClinVar
15g.67181277G>CCA392955932SMAD3c.110G>C (p.Trp37Ser)
c.380G>C (p.Trp127Ser)
c.695G>C (p.Trp232Ser)
n.398G>C
c.563G>C (p.Trp188Ser)
n.282+6693G>C
c.548G>C (p.Trp183Ser)
 ClinVar
15g.67181277G>TCA392955931SMAD3c.110G>T (p.Trp37Leu)
c.380G>T (p.Trp127Leu)
c.695G>T (p.Trp232Leu)
n.398G>T
c.563G>T (p.Trp188Leu)
n.282+6693G>T
c.548G>T (p.Trp183Leu)
15g.67181278G>ACA062579SMAD3c.111G>A (p.Trp37Ter)
c.381G>A (p.Trp127Ter)
c.696G>A (p.Trp232Ter)
n.399G>A
c.564G>A (p.Trp188Ter)
n.282+6694G>A
c.549G>A (p.Trp183Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.67181278G>CCA323169SMAD3c.111G>C (p.Trp37Cys)
c.381G>C (p.Trp127Cys)
c.696G>C (p.Trp232Cys)
n.399G>C
c.564G>C (p.Trp188Cys)
n.282+6694G>C
c.549G>C (p.Trp183Cys)
 ClinVar dbSNP
15g.67181278G=CA2184414555SMAD3c.111G= (p.Trp37=)
c.381G= (p.Trp127=)
c.696G= (p.Trp232=)
n.399G=
c.564G= (p.Trp188=)
n.282+6694G=
c.549G= (p.Trp183=)
15g.67181278G>TCA392955937SMAD3c.111G>T (p.Trp37Cys)
c.381G>T (p.Trp127Cys)
c.696G>T (p.Trp232Cys)
n.399G>T
c.564G>T (p.Trp188Cys)
n.282+6694G>T
c.549G>T (p.Trp183Cys)
15g.67181279T>ACA392955940SMAD3c.112T>A (p.Cys38Ser)
c.382T>A (p.Cys128Ser)
c.697T>A (p.Cys233Ser)
n.400T>A
c.565T>A (p.Cys189Ser)
n.282+6695T>A
c.550T>A (p.Cys184Ser)
15g.67181279T>CCA392955941SMAD3c.112T>C (p.Cys38Arg)
c.382T>C (p.Cys128Arg)
c.697T>C (p.Cys233Arg)
n.400T>C
c.565T>C (p.Cys189Arg)
n.282+6695T>C
c.550T>C (p.Cys184Arg)
15g.67181279T>GCA392955943SMAD3c.112T>G (p.Cys38Gly)
c.382T>G (p.Cys128Gly)
c.697T>G (p.Cys233Gly)
n.400T>G
c.565T>G (p.Cys189Gly)
n.282+6695T>G
c.550T>G (p.Cys184Gly)
 gnomAD v4
15g.67181280G>ACA392955945SMAD3c.113G>A (p.Cys38Tyr)
c.383G>A (p.Cys128Tyr)
c.698G>A (p.Cys233Tyr)
n.401G>A
c.566G>A (p.Cys189Tyr)
n.282+6696G>A
c.551G>A (p.Cys184Tyr)
15g.67181280G>CCA392955949SMAD3c.113G>C (p.Cys38Ser)
c.383G>C (p.Cys128Ser)
c.698G>C (p.Cys233Ser)
n.401G>C
c.566G>C (p.Cys189Ser)
n.282+6696G>C
c.551G>C (p.Cys184Ser)
15g.67181280G>TCA392955947SMAD3c.113G>T (p.Cys38Phe)
c.383G>T (p.Cys128Phe)
c.698G>T (p.Cys233Phe)
n.401G>T
c.566G>T (p.Cys189Phe)
n.282+6696G>T
c.551G>T (p.Cys184Phe)
15g.67181281C>ACA392955951SMAD3c.114C>A (p.Cys38Ter)
c.384C>A (p.Cys128Ter)
c.699C>A (p.Cys233Ter)
n.402C>A
c.567C>A (p.Cys189Ter)
n.282+6697C>A
c.552C>A (p.Cys184Ter)
15g.67181281C>GCA392955953SMAD3c.114C>G (p.Cys38Trp)
c.384C>G (p.Cys128Trp)
c.699C>G (p.Cys233Trp)
n.402C>G
c.567C>G (p.Cys189Trp)
n.282+6697C>G
c.552C>G (p.Cys184Trp)
 ClinVar dbSNP
15g.67181281C>TCA490914499SMAD3c.114C>T (p.Cys38=)
c.384C>T (p.Cys128=)
c.699C>T (p.Cys233=)
n.402C>T
c.567C>T (p.Cys189=)
n.282+6697C>T
c.552C>T (p.Cys184=)
 dbSNP gnomAD v4
15g.67181282T>ACA392955955SMAD3c.115T>A (p.Ser39Thr)
c.385T>A (p.Ser129Thr)
c.700T>A (p.Ser234Thr)
n.403T>A
c.568T>A (p.Ser190Thr)
n.282+6698T>A
c.553T>A (p.Ser185Thr)
15g.67181282T>CCA392955957SMAD3c.115T>C (p.Ser39Pro)
c.385T>C (p.Ser129Pro)
c.700T>C (p.Ser234Pro)
n.403T>C
c.568T>C (p.Ser190Pro)
n.282+6698T>C
c.553T>C (p.Ser185Pro)
15g.67181282T>GCA392955958SMAD3c.115T>G (p.Ser39Ala)
c.385T>G (p.Ser129Ala)
c.700T>G (p.Ser234Ala)
n.403T>G
c.568T>G (p.Ser190Ala)
n.282+6698T>G
c.553T>G (p.Ser185Ala)
15g.67181283C>ACA392955960SMAD3c.116C>A (p.Ser39Tyr)
c.386C>A (p.Ser129Tyr)
c.701C>A (p.Ser234Tyr)
n.404C>A
c.569C>A (p.Ser190Tyr)
n.282+6699C>A
c.554C>A (p.Ser185Tyr)
15g.67181283C>GCA392955962SMAD3c.116C>G (p.Ser39Cys)
c.386C>G (p.Ser129Cys)
c.701C>G (p.Ser234Cys)
n.404C>G
c.569C>G (p.Ser190Cys)
n.282+6699C>G
c.554C>G (p.Ser185Cys)
15g.67181283C>TCA392955964SMAD3c.116C>T (p.Ser39Phe)
c.386C>T (p.Ser129Phe)
c.701C>T (p.Ser234Phe)
n.404C>T
c.569C>T (p.Ser190Phe)
n.282+6699C>T
c.554C>T (p.Ser185Phe)
 ClinVar dbSNP gnomAD v4
15g.67181284dupCA2739269519SMAD3c.117dup (p.Ile40HisfsTer?)
c.387dup (p.Ile130HisfsTer?)
c.702dup (p.Ile235HisfsTer?)
n.405dup
c.570dup (p.Ile191HisfsTer?)
n.282+6700dup
c.555dup (p.Ile186HisfsTer?)
 ClinVar
15g.67181284C>ACA490914502SMAD3c.117C>A (p.Ser39=)
c.387C>A (p.Ser129=)
c.702C>A (p.Ser234=)
n.405C>A
c.570C>A (p.Ser190=)
n.282+6700C>A
c.555C>A (p.Ser185=)
15g.67181284C>GCA490914506SMAD3c.117C>G (p.Ser39=)
c.387C>G (p.Ser129=)
c.702C>G (p.Ser234=)
n.405C>G
c.570C>G (p.Ser190=)
n.282+6700C>G
c.555C>G (p.Ser185=)
15g.67181284C>TCA490914504SMAD3c.117C>T (p.Ser39=)
c.387C>T (p.Ser129=)
c.702C>T (p.Ser234=)
n.405C>T
c.570C>T (p.Ser190=)
n.282+6700C>T
c.555C>T (p.Ser185=)
15g.67181285A=CA2184414559SMAD3c.118A= (p.Ile40=)
c.388A= (p.Ile130=)
c.703A= (p.Ile235=)
n.406A=
c.571A= (p.Ile191=)
n.282+6701A=
c.556A= (p.Ile186=)
15g.67181285A>CCA392955966SMAD3c.118A>C (p.Ile40Leu)
c.388A>C (p.Ile130Leu)
c.703A>C (p.Ile235Leu)
n.406A>C
c.571A>C (p.Ile191Leu)
n.282+6701A>C
c.556A>C (p.Ile186Leu)
15g.67181285A>GCA392955968SMAD3c.118A>G (p.Ile40Val)
c.388A>G (p.Ile130Val)
c.703A>G (p.Ile235Val)
n.406A>G
c.571A>G (p.Ile191Val)
n.282+6701A>G
c.556A>G (p.Ile186Val)
 dbSNP gnomAD v4
15g.67181285A>TCA392955969SMAD3c.118A>T (p.Ile40Phe)
c.388A>T (p.Ile130Phe)
c.703A>T (p.Ile235Phe)
n.406A>T
c.571A>T (p.Ile191Phe)
n.282+6701A>T
c.556A>T (p.Ile186Phe)
15g.67181286T>ACA392955971SMAD3c.119T>A (p.Ile40Asn)
c.389T>A (p.Ile130Asn)
c.704T>A (p.Ile235Asn)
n.407T>A
c.572T>A (p.Ile191Asn)
n.282+6702T>A
c.557T>A (p.Ile186Asn)
15g.67181286T>CCA392955974SMAD3c.119T>C (p.Ile40Thr)
c.389T>C (p.Ile130Thr)
c.704T>C (p.Ile235Thr)
n.407T>C
c.572T>C (p.Ile191Thr)
n.282+6702T>C
c.557T>C (p.Ile186Thr)
15g.67181286T>GCA392955973SMAD3c.119T>G (p.Ile40Ser)
c.389T>G (p.Ile130Ser)
c.704T>G (p.Ile235Ser)
n.407T>G
c.572T>G (p.Ile191Ser)
n.282+6702T>G
c.557T>G (p.Ile186Ser)
15g.67181287C>ACA490914522SMAD3c.120C>A (p.Ile40=)
c.390C>A (p.Ile130=)
c.705C>A (p.Ile235=)
n.408C>A
c.573C>A (p.Ile191=)
n.282+6703C>A
c.558C>A (p.Ile186=)
15g.67181287C>GCA392955976SMAD3c.120C>G (p.Ile40Met)
c.390C>G (p.Ile130Met)
c.705C>G (p.Ile235Met)
n.408C>G
c.573C>G (p.Ile191Met)
n.282+6703C>G
c.558C>G (p.Ile186Met)
 dbSNP
15g.67181287C>TCA490914529SMAD3c.120C>T (p.Ile40=)
c.390C>T (p.Ile130=)
c.705C>T (p.Ile235=)
n.408C>T
c.573C>T (p.Ile191=)
n.282+6703C>T
c.558C>T (p.Ile186=)
15g.67181288T>ACA392955979SMAD3c.121T>A (p.Ser41Thr)
c.391T>A (p.Ser131Thr)
c.706T>A (p.Ser236Thr)
n.409T>A
c.574T>A (p.Ser192Thr)
n.282+6704T>A
c.559T>A (p.Ser187Thr)
15g.67181288T>CCA392955980SMAD3c.121T>C (p.Ser41Pro)
c.391T>C (p.Ser131Pro)
c.706T>C (p.Ser236Pro)
n.409T>C
c.574T>C (p.Ser192Pro)
n.282+6704T>C
c.559T>C (p.Ser187Pro)
15g.67181288T>GCA392955981SMAD3c.121T>G (p.Ser41Ala)
c.391T>G (p.Ser131Ala)
c.706T>G (p.Ser236Ala)
n.409T>G
c.574T>G (p.Ser192Ala)
n.282+6704T>G
c.559T>G (p.Ser187Ala)
15g.67181289C>ACA392955984SMAD3c.122C>A (p.Ser41Tyr)
c.392C>A (p.Ser131Tyr)
c.707C>A (p.Ser236Tyr)
n.410C>A
c.575C>A (p.Ser192Tyr)
n.282+6705C>A
c.560C>A (p.Ser187Tyr)
15g.67181289C=CA2184414564SMAD3c.122C= (p.Ser41=)
c.392C= (p.Ser131=)
c.707C= (p.Ser236=)
n.410C=
c.575C= (p.Ser192=)
n.282+6705C=
c.560C= (p.Ser187=)
15g.67181289C>GCA392955986SMAD3c.122C>G (p.Ser41Cys)
c.392C>G (p.Ser131Cys)
c.707C>G (p.Ser236Cys)
n.410C>G
c.575C>G (p.Ser192Cys)
n.282+6705C>G
c.560C>G (p.Ser187Cys)
15g.67181289C>TCA392955987SMAD3c.122C>T (p.Ser41Phe)
c.392C>T (p.Ser131Phe)
c.707C>T (p.Ser236Phe)
n.410C>T
c.575C>T (p.Ser192Phe)
n.282+6705C>T
c.560C>T (p.Ser187Phe)
 ClinVar dbSNP
15g.67181289_67181292delinsCCTACA2184414566SMAD3c.122_125delinsCCTA (p.Ser41=)
c.392_395delinsCCTA (p.Ser131=)
c.707_710delinsCCTA (p.Ser236=)
n.410_413delinsCCTA
c.575_578delinsCCTA (p.Ser192=)
n.282+6705_282+6708delinsCCTA
c.560_563delinsCCTA (p.Ser187=)
15g.67181290C>ACA490914538SMAD3c.123C>A (p.Ser41=)
c.393C>A (p.Ser131=)
c.708C>A (p.Ser236=)
n.411C>A
c.576C>A (p.Ser192=)
n.282+6706C>A
c.561C>A (p.Ser187=)
15g.67181290C=CA2184414569SMAD3c.123C= (p.Ser41=)
c.393C= (p.Ser131=)
c.708C= (p.Ser236=)
n.411C=
c.576C= (p.Ser192=)
n.282+6706C=
c.561C= (p.Ser187=)
15g.67181290C>GCA490914547SMAD3c.123C>G (p.Ser41=)
c.393C>G (p.Ser131=)
c.708C>G (p.Ser236=)
n.411C>G
c.576C>G (p.Ser192=)
n.282+6706C>G
c.561C>G (p.Ser187=)
15g.67181290C>TCA062594SMAD3c.123C>T (p.Ser41=)
c.393C>T (p.Ser131=)
c.708C>T (p.Ser236=)
n.411C>T
c.576C>T (p.Ser192=)
n.282+6706C>T
c.561C>T (p.Ser187=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.67181294_67181296delCA323607SMAD3c.127_129del (p.Tyr43del)
c.397_399del (p.Tyr133del)
c.712_714del (p.Tyr238del)
n.415_417del
c.580_582del (p.Tyr194del)
n.282+6710_282+6712del
c.565_567del (p.Tyr189del)
 ClinVar dbSNP
15g.67181291T>ACA392955990SMAD3c.124T>A (p.Tyr42Asn)
c.394T>A (p.Tyr132Asn)
c.709T>A (p.Tyr237Asn)
n.412T>A
c.577T>A (p.Tyr193Asn)
n.282+6707T>A
c.562T>A (p.Tyr188Asn)
15g.67181291T>CCA392955992SMAD3c.124T>C (p.Tyr42His)
c.394T>C (p.Tyr132His)
c.709T>C (p.Tyr237His)
n.412T>C
c.577T>C (p.Tyr193His)
n.282+6707T>C
c.562T>C (p.Tyr188His)
15g.67181291T>GCA392955994SMAD3c.124T>G (p.Tyr42Asp)
c.394T>G (p.Tyr132Asp)
c.709T>G (p.Tyr237Asp)
n.412T>G
c.577T>G (p.Tyr193Asp)
n.282+6707T>G
c.562T>G (p.Tyr188Asp)
15g.67181292A>CCA392955995SMAD3c.125A>C (p.Tyr42Ser)
c.395A>C (p.Tyr132Ser)
c.710A>C (p.Tyr237Ser)
n.413A>C
c.578A>C (p.Tyr193Ser)
n.282+6708A>C
c.563A>C (p.Tyr188Ser)
15g.67181292A>GCA392955996SMAD3c.125A>G (p.Tyr42Cys)
c.395A>G (p.Tyr132Cys)
c.710A>G (p.Tyr237Cys)
n.413A>G
c.578A>G (p.Tyr193Cys)
n.282+6708A>G
c.563A>G (p.Tyr188Cys)
 COSMIC
15g.67181292A>TCA392955998SMAD3c.125A>T (p.Tyr42Phe)
c.395A>T (p.Tyr132Phe)
c.710A>T (p.Tyr237Phe)
n.413A>T
c.578A>T (p.Tyr193Phe)
n.282+6708A>T
c.563A>T (p.Tyr188Phe)
15g.67181293C>ACA392956001SMAD3c.126C>A (p.Tyr42Ter)
c.396C>A (p.Tyr132Ter)
c.711C>A (p.Tyr237Ter)
n.414C>A
c.579C>A (p.Tyr193Ter)
n.282+6709C>A
c.564C>A (p.Tyr188Ter)
15g.67181293C>GCA392956000SMAD3c.126C>G (p.Tyr42Ter)
c.396C>G (p.Tyr132Ter)
c.711C>G (p.Tyr237Ter)
n.414C>G
c.579C>G (p.Tyr193Ter)
n.282+6709C>G
c.564C>G (p.Tyr188Ter)
15g.67181293C>TCA490914556SMAD3c.126C>T (p.Tyr42=)
c.396C>T (p.Tyr132=)
c.711C>T (p.Tyr237=)
n.414C>T
c.579C>T (p.Tyr193=)
n.282+6709C>T
c.564C>T (p.Tyr188=)
 ClinVar dbSNP
15g.67181294T>ACA392956003SMAD3c.127T>A (p.Tyr43Asn)
c.397T>A (p.Tyr133Asn)
c.712T>A (p.Tyr238Asn)
n.415T>A
c.580T>A (p.Tyr194Asn)
n.282+6710T>A
c.565T>A (p.Tyr189Asn)
15g.67181294T>CCA392956004SMAD3c.127T>C (p.Tyr43His)
c.397T>C (p.Tyr133His)
c.712T>C (p.Tyr238His)
n.415T>C
c.580T>C (p.Tyr194His)
n.282+6710T>C
c.565T>C (p.Tyr189His)
15g.67181294T>GCA392956006SMAD3c.127T>G (p.Tyr43Asp)
c.397T>G (p.Tyr133Asp)
c.712T>G (p.Tyr238Asp)
n.415T>G
c.580T>G (p.Tyr194Asp)
n.282+6710T>G
c.565T>G (p.Tyr189Asp)
15g.67181295A>CCA392956008SMAD3c.128A>C (p.Tyr43Ser)
c.398A>C (p.Tyr133Ser)
c.713A>C (p.Tyr238Ser)
n.416A>C
c.581A>C (p.Tyr194Ser)
n.282+6711A>C
c.566A>C (p.Tyr189Ser)
15g.67181295A>GCA392956010SMAD3c.128A>G (p.Tyr43Cys)
c.398A>G (p.Tyr133Cys)
c.713A>G (p.Tyr238Cys)
n.416A>G
c.581A>G (p.Tyr194Cys)
n.282+6711A>G
c.566A>G (p.Tyr189Cys)
15g.67181295A>TCA392956011SMAD3c.128A>T (p.Tyr43Phe)
c.398A>T (p.Tyr133Phe)
c.713A>T (p.Tyr238Phe)
n.416A>T
c.581A>T (p.Tyr194Phe)
n.282+6711A>T
c.566A>T (p.Tyr189Phe)
15g.67181296C>ACA392956013SMAD3c.129C>A (p.Tyr43Ter)
c.399C>A (p.Tyr133Ter)
c.714C>A (p.Tyr238Ter)
n.417C>A
c.582C>A (p.Tyr194Ter)
n.282+6712C>A
c.567C>A (p.Tyr189Ter)
 ClinVar
15g.67181296C=CA2184414577SMAD3c.129C= (p.Tyr43=)
c.399C= (p.Tyr133=)
c.714C= (p.Tyr238=)
n.417C=
c.582C= (p.Tyr194=)
n.282+6712C=
c.567C= (p.Tyr189=)
15g.67181296C>GCA392956015SMAD3c.129C>G (p.Tyr43Ter)
c.399C>G (p.Tyr133Ter)
c.714C>G (p.Tyr238Ter)
n.417C>G
c.582C>G (p.Tyr194Ter)
n.282+6712C>G
c.567C>G (p.Tyr189Ter)
15g.67181296C>TCA062600SMAD3c.129C>T (p.Tyr43=)
c.399C>T (p.Tyr133=)
c.714C>T (p.Tyr238=)
n.417C>T
c.582C>T (p.Tyr194=)
n.282+6712C>T
c.567C>T (p.Tyr189=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched