Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.61456592_61456621dupCA2639148237TBX4c.102_131dup (p.Leu44_Gly45insAlaAlaProGlyLeuSerGlyAlaAlaLeu)
c.-125-32_-125-3dup (n.-125-32_-125-3dup)
c.291_320dup (p.Leu107_Gly108insAlaAlaProGlyLeuSerGlyAlaAlaLeu)
 gnomAD v4
17g.61456591T>ACA400468928TBX4c.101T>A (p.Leu34Gln)
c.-125-33T>A (n.-125-33T>A)
c.290T>A (p.Leu97Gln)
17g.61456591T>CCA400468930TBX4c.101T>C (p.Leu34Pro)
c.-125-33T>C (n.-125-33T>C)
c.290T>C (p.Leu97Pro)
 dbSNP gnomAD v4
17g.61456591T>GCA400468931TBX4c.101T>G (p.Leu34Arg)
c.-125-33T>G (n.-125-33T>G)
c.290T>G (p.Leu97Arg)
17g.61456591T=CA2269031339TBX4c.101T= (p.Leu34=)
c.-125-33T= (n.-125-33T=)
c.290T= (p.Leu97=)
17g.61456592G>ACA501138846TBX4c.102G>A (p.Leu34=)
c.-125-32G>A (n.-125-32G>A)
c.291G>A (p.Leu97=)
17g.61456592G>CCA501138845TBX4c.102G>C (p.Leu34=)
c.-125-32G>C (n.-125-32G>C)
c.291G>C (p.Leu97=)
 gnomAD v4
17g.61456592G>TCA501138844TBX4c.102G>T (p.Leu34=)
c.-125-32G>T (n.-125-32G>T)
c.291G>T (p.Leu97=)
17g.61456593G>ACA400468933TBX4c.103G>A (p.Ala35Thr)
c.-125-31G>A (n.-125-31G>A)
c.292G>A (p.Ala98Thr)
 gnomAD v4
17g.61456593G>CCA400468935TBX4c.103G>C (p.Ala35Pro)
c.-125-31G>C (n.-125-31G>C)
c.292G>C (p.Ala98Pro)
17g.61456593G=CA2269031340TBX4c.103G= (p.Ala35=)
c.-125-31G= (n.-125-31G=)
c.292G= (p.Ala98=)
17g.61456593G>TCA8689735TBX4c.103G>T (p.Ala35Ser)
c.-125-31G>T (n.-125-31G>T)
c.292G>T (p.Ala98Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.61456594C>ACA400468940TBX4c.104C>A (p.Ala35Glu)
c.-125-30C>A (n.-125-30C>A)
c.293C>A (p.Ala98Glu)
17g.61456594C=CA2269031341TBX4c.104C= (p.Ala35=)
c.-125-30C= (n.-125-30C=)
c.293C= (p.Ala98=)
17g.61456594C>GCA400468937TBX4c.104C>G (p.Ala35Gly)
c.-125-30C>G (n.-125-30C>G)
c.293C>G (p.Ala98Gly)
17g.61456594C>TCA8689736TBX4c.104C>T (p.Ala35Val)
c.-125-30C>T (n.-125-30C>T)
c.293C>T (p.Ala98Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.61456595A>CCA501138847TBX4c.105A>C (p.Ala35=)
c.-125-29A>C (n.-125-29A>C)
c.294A>C (p.Ala98=)
17g.61456595A>GCA501138848TBX4c.105A>G (p.Ala35=)
c.-125-29A>G (n.-125-29A>G)
c.294A>G (p.Ala98=)
 gnomAD v4
17g.61456595A>TCA501138849TBX4c.105A>T (p.Ala35=)
c.-125-29A>T (n.-125-29A>T)
c.294A>T (p.Ala98=)
17g.61456596G>ACA400468941TBX4c.106G>A (p.Ala36Thr)
c.-125-28G>A (n.-125-28G>A)
c.295G>A (p.Ala99Thr)
 gnomAD v4
17g.61456596G>CCA400468943TBX4c.106G>C (p.Ala36Pro)
c.-125-28G>C (n.-125-28G>C)
c.295G>C (p.Ala99Pro)
17g.61456596G>TCA400468945TBX4c.106G>T (p.Ala36Ser)
c.-125-28G>T (n.-125-28G>T)
c.295G>T (p.Ala99Ser)
17g.61456597C>ACA400468947TBX4c.107C>A (p.Ala36Glu)
c.-125-27C>A (n.-125-27C>A)
c.296C>A (p.Ala99Glu)
 gnomAD v4
17g.61456597C>GCA400468948TBX4c.107C>G (p.Ala36Gly)
c.-125-27C>G (n.-125-27C>G)
c.296C>G (p.Ala99Gly)
17g.61456597C>TCA400468950TBX4c.107C>T (p.Ala36Val)
c.-125-27C>T (n.-125-27C>T)
c.296C>T (p.Ala99Val)
 gnomAD v4
17g.61456598G>ACA501138850TBX4c.108G>A (p.Ala36=)
c.-125-26G>A (n.-125-26G>A)
c.297G>A (p.Ala99=)
 gnomAD v4
17g.61456598G>CCA501138851TBX4c.108G>C (p.Ala36=)
c.-125-26G>C (n.-125-26G>C)
c.297G>C (p.Ala99=)
17g.61456598G=CA2269031342TBX4c.108G= (p.Ala36=)
c.-125-26G= (n.-125-26G=)
c.297G= (p.Ala99=)
17g.61456598G>TCA10650591TBX4c.108G>T (p.Ala36=)
c.-125-26G>T (n.-125-26G>T)
c.297G>T (p.Ala99=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.61456599C>ACA400468952TBX4c.109C>A (p.Pro37Thr)
c.-125-25C>A (n.-125-25C>A)
c.298C>A (p.Pro100Thr)
17g.61456599C>GCA400468954TBX4c.109C>G (p.Pro37Ala)
c.-125-25C>G (n.-125-25C>G)
c.298C>G (p.Pro100Ala)
17g.61456599C>TCA400468956TBX4c.109C>T (p.Pro37Ser)
c.-125-25C>T (n.-125-25C>T)
c.298C>T (p.Pro100Ser)
17g.61456600delCA2576344725TBX4c.110del (p.Pro37ArgfsTer8)
c.-125-24del (n.-125-24del)
c.299del (p.Pro100ArgfsTer8)
17g.61456600C>ACA400468959TBX4c.110C>A (p.Pro37Gln)
c.-125-24C>A (n.-125-24C>A)
c.299C>A (p.Pro100Gln)
17g.61456600C=CA2269031343TBX4c.110C= (p.Pro37=)
c.-125-24C= (n.-125-24C=)
c.299C= (p.Pro100=)
17g.61456600C>GCA400468957TBX4c.110C>G (p.Pro37Arg)
c.-125-24C>G (n.-125-24C>G)
c.299C>G (p.Pro100Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.61456600C>TCA10646275TBX4c.110C>T (p.Pro37Leu)
c.-125-24C>T (n.-125-24C>T)
c.299C>T (p.Pro100Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.61456601G>ACA501138854TBX4c.111G>A (p.Pro37=)
c.-125-23G>A (n.-125-23G>A)
c.300G>A (p.Pro100=)
 dbSNP gnomAD v4
17g.61456601G>CCA501138853TBX4c.111G>C (p.Pro37=)
c.-125-23G>C (n.-125-23G>C)
c.300G>C (p.Pro100=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.61456601G=CA2269031344TBX4c.111G= (p.Pro37=)
c.-125-23G= (n.-125-23G=)
c.300G= (p.Pro100=)
17g.61456601G>TCA501138852TBX4c.111G>T (p.Pro37=)
c.-125-23G>T (n.-125-23G>T)
c.300G>T (p.Pro100=)
17g.61456603dupCA2573054516TBX4c.113dup (p.Leu39ProfsTer?)
c.-125-21dup (n.-125-21dup)
c.302dup (p.Leu102ProfsTer?)
 ClinVar dbSNP
17g.61456602G>ACA400468961TBX4c.112G>A (p.Gly38Ser)
c.-125-22G>A (n.-125-22G>A)
c.301G>A (p.Gly101Ser)
17g.61456602G>CCA400468963TBX4c.112G>C (p.Gly38Arg)
c.-125-22G>C (n.-125-22G>C)
c.301G>C (p.Gly101Arg)
17g.61456602G>TCA400468964TBX4c.112G>T (p.Gly38Cys)
c.-125-22G>T (n.-125-22G>T)
c.301G>T (p.Gly101Cys)
17g.61456603G>ACA400468967TBX4c.113G>A (p.Gly38Asp)
c.-125-21G>A (n.-125-21G>A)
c.302G>A (p.Gly101Asp)
17g.61456603G>CCA400468968TBX4c.113G>C (p.Gly38Ala)
c.-125-21G>C (n.-125-21G>C)
c.302G>C (p.Gly101Ala)
17g.61456603G=CA2269031345TBX4c.113G= (p.Gly38=)
c.-125-21G= (n.-125-21G=)
c.302G= (p.Gly101=)
17g.61456603G>TCA292260572TBX4c.113G>T (p.Gly38Val)
c.-125-21G>T (n.-125-21G>T)
c.302G>T (p.Gly101Val)
 dbSNP gnomAD v3 gnomAD v4
17g.61456604C>ACA501138855TBX4c.114C>A (p.Gly38=)
c.-125-20C>A (n.-125-20C>A)
c.303C>A (p.Gly101=)
 gnomAD v4

Number of alleles fetched