Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.61456572A>CCA400468858TBX4c.82A>C (p.Asn28His)
c.-125-52A>C (n.-125-52A>C)
c.271A>C (p.Asn91His)
17g.61456572A>GCA400468859TBX4c.82A>G (p.Asn28Asp)
c.-125-52A>G (n.-125-52A>G)
c.271A>G (p.Asn91Asp)
17g.61456572A>TCA400468861TBX4c.82A>T (p.Asn28Tyr)
c.-125-52A>T (n.-125-52A>T)
c.271A>T (p.Asn91Tyr)
17g.61456573A>CCA400468867TBX4c.83A>C (p.Asn28Thr)
c.-125-51A>C (n.-125-51A>C)
c.272A>C (p.Asn91Thr)
17g.61456573A>GCA400468863TBX4c.83A>G (p.Asn28Ser)
c.-125-51A>G (n.-125-51A>G)
c.272A>G (p.Asn91Ser)
 gnomAD v4
17g.61456573A>TCA400468865TBX4c.83A>T (p.Asn28Ile)
c.-125-51A>T (n.-125-51A>T)
c.272A>T (p.Asn91Ile)
17g.61456574C>ACA400468868TBX4c.84C>A (p.Asn28Lys)
c.-125-50C>A (n.-125-50C>A)
c.273C>A (p.Asn91Lys)
 gnomAD v4
17g.61456574C=CA2269031329TBX4c.84C= (p.Asn28=)
c.-125-50C= (n.-125-50C=)
c.273C= (p.Asn91=)
17g.61456574C>GCA400468870TBX4c.84C>G (p.Asn28Lys)
c.-125-50C>G (n.-125-50C>G)
c.273C>G (p.Asn91Lys)
17g.61456574C>TCA501138828TBX4c.84C>T (p.Asn28=)
c.-125-50C>T (n.-125-50C>T)
c.273C>T (p.Asn91=)
 dbSNP gnomAD v2 gnomAD v4
17g.61456575G>ACA400468872TBX4c.85G>A (p.Ala29Thr)
c.-125-49G>A (n.-125-49G>A)
c.274G>A (p.Ala92Thr)
 dbSNP gnomAD v4
17g.61456575G>CCA400468875TBX4c.85G>C (p.Ala29Pro)
c.-125-49G>C (n.-125-49G>C)
c.274G>C (p.Ala92Pro)
 gnomAD v4
17g.61456575G=CA2269031330TBX4c.85G= (p.Ala29=)
c.-125-49G= (n.-125-49G=)
c.274G= (p.Ala92=)
17g.61456575G>TCA400468877TBX4c.85G>T (p.Ala29Ser)
c.-125-49G>T (n.-125-49G>T)
c.274G>T (p.Ala92Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.61456576C>ACA400468879TBX4c.86C>A (p.Ala29Asp)
c.-125-48C>A (n.-125-48C>A)
c.275C>A (p.Ala92Asp)
17g.61456576C=CA2269031331TBX4c.86C= (p.Ala29=)
c.-125-48C= (n.-125-48C=)
c.275C= (p.Ala92=)
17g.61456576C>GCA400468880TBX4c.86C>G (p.Ala29Gly)
c.-125-48C>G (n.-125-48C>G)
c.275C>G (p.Ala92Gly)
17g.61456576C>TCA292260548TBX4c.86C>T (p.Ala29Val)
c.-125-48C>T (n.-125-48C>T)
c.275C>T (p.Ala92Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.61456580dupCA2639148221TBX4c.90dup (p.Glu31ArgfsTer?)
c.-125-44dup (n.-125-44dup)
c.279dup (p.Glu94ArgfsTer?)
 gnomAD v4
17g.61456580delCA2639148223TBX4c.90del (p.Glu31SerfsTer14)
c.-125-44del (n.-125-44del)
c.279del (p.Glu94SerfsTer14)
 gnomAD v4
17g.61456577C>ACA501138830TBX4c.87C>A (p.Ala29=)
c.-125-47C>A (n.-125-47C>A)
c.276C>A (p.Ala92=)
17g.61456577C>GCA501138831TBX4c.87C>G (p.Ala29=)
c.-125-47C>G (n.-125-47C>G)
c.276C>G (p.Ala92=)
 gnomAD v4
17g.61456577C>TCA501138832TBX4c.87C>T (p.Ala29=)
c.-125-47C>T (n.-125-47C>T)
c.276C>T (p.Ala92=)
17g.61456578C>ACA400468882TBX4c.88C>A (p.Pro30Thr)
c.-125-46C>A (n.-125-46C>A)
c.277C>A (p.Pro93Thr)
17g.61456578C>GCA400468884TBX4c.88C>G (p.Pro30Ala)
c.-125-46C>G (n.-125-46C>G)
c.277C>G (p.Pro93Ala)
17g.61456578C>TCA400468885TBX4c.88C>T (p.Pro30Ser)
c.-125-46C>T (n.-125-46C>T)
c.277C>T (p.Pro93Ser)
17g.61456579C>ACA400468886TBX4c.89C>A (p.Pro30His)
c.-125-45C>A (n.-125-45C>A)
c.278C>A (p.Pro93His)
 gnomAD v4
17g.61456579C>GCA400468888TBX4c.89C>G (p.Pro30Arg)
c.-125-45C>G (n.-125-45C>G)
c.278C>G (p.Pro93Arg)
17g.61456579C>TCA400468890TBX4c.89C>T (p.Pro30Leu)
c.-125-45C>T (n.-125-45C>T)
c.278C>T (p.Pro93Leu)
17g.61456580C>ACA501138833TBX4c.90C>A (p.Pro30=)
c.-125-44C>A (n.-125-44C>A)
c.279C>A (p.Pro93=)
 gnomAD v4
17g.61456580C>GCA501138834TBX4c.90C>G (p.Pro30=)
c.-125-44C>G (n.-125-44C>G)
c.279C>G (p.Pro93=)
 gnomAD v4
17g.61456580C>TCA501138836TBX4c.90C>T (p.Pro30=)
c.-125-44C>T (n.-125-44C>T)
c.279C>T (p.Pro93=)
17g.61456581G>ACA400468892TBX4c.91G>A (p.Glu31Lys)
c.-125-43G>A (n.-125-43G>A)
c.280G>A (p.Glu94Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.61456581G>CCA400468893TBX4c.91G>C (p.Glu31Gln)
c.-125-43G>C (n.-125-43G>C)
c.280G>C (p.Glu94Gln)
17g.61456581G=CA2269031332TBX4c.91G= (p.Glu31=)
c.-125-43G= (n.-125-43G=)
c.280G= (p.Glu94=)
17g.61456581G>TCA400468895TBX4c.91G>T (p.Glu31Ter)
c.-125-43G>T (n.-125-43G>T)
c.280G>T (p.Glu94Ter)
17g.61456582A>CCA400468897TBX4c.92A>C (p.Glu31Ala)
c.-125-42A>C (n.-125-42A>C)
c.281A>C (p.Glu94Ala)
17g.61456582A>GCA400468899TBX4c.92A>G (p.Glu31Gly)
c.-125-42A>G (n.-125-42A>G)
c.281A>G (p.Glu94Gly)
17g.61456582A>TCA400468900TBX4c.92A>T (p.Glu31Val)
c.-125-42A>T (n.-125-42A>T)
c.281A>T (p.Glu94Val)
17g.61456583G>ACA501138837TBX4c.93G>A (p.Glu31=)
c.-125-41G>A (n.-125-41G>A)
c.282G>A (p.Glu94=)
 gnomAD v4
17g.61456583G>CCA400468902TBX4c.93G>C (p.Glu31Asp)
c.-125-41G>C (n.-125-41G>C)
c.282G>C (p.Glu94Asp)
17g.61456583G=CA2269031333TBX4c.93G= (p.Glu31=)
c.-125-41G= (n.-125-41G=)
c.282G= (p.Glu94=)
17g.61456583G>TCA292260551TBX4c.93G>T (p.Glu31Asp)
c.-125-41G>T (n.-125-41G>T)
c.282G>T (p.Glu94Asp)
 dbSNP gnomAD v2 gnomAD v4
17g.61456584C>ACA400468907TBX4c.94C>A (p.Pro32Thr)
c.-125-40C>A (n.-125-40C>A)
c.283C>A (p.Pro95Thr)
17g.61456584C=CA2269031334TBX4c.94C= (p.Pro32=)
c.-125-40C= (n.-125-40C=)
c.283C= (p.Pro95=)
17g.61456584C>GCA400468909TBX4c.94C>G (p.Pro32Ala)
c.-125-40C>G (n.-125-40C>G)
c.283C>G (p.Pro95Ala)
 ClinVar
17g.61456584C>TCA8689734TBX4c.94C>T (p.Pro32Ser)
c.-125-40C>T (n.-125-40C>T)
c.283C>T (p.Pro95Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.61456585C>ACA400468911TBX4c.95C>A (p.Pro32His)
c.-125-39C>A (n.-125-39C>A)
c.284C>A (p.Pro95His)
17g.61456585C>GCA400468914TBX4c.95C>G (p.Pro32Arg)
c.-125-39C>G (n.-125-39C>G)
c.284C>G (p.Pro95Arg)
17g.61456585C>TCA400468913TBX4c.95C>T (p.Pro32Leu)
c.-125-39C>T (n.-125-39C>T)
c.284C>T (p.Pro95Leu)
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.61456586C>ACA501138838TBX4c.96C>A (p.Pro32=)
c.-125-38C>A (n.-125-38C>A)
c.285C>A (p.Pro95=)
 gnomAD v4
17g.61456586C=CA2269031335TBX4c.96C= (p.Pro32=)
c.-125-38C= (n.-125-38C=)
c.285C= (p.Pro95=)
17g.61456586C>GCA501138839TBX4c.96C>G (p.Pro32=)
c.-125-38C>G (n.-125-38C>G)
c.285C>G (p.Pro95=)
 dbSNP gnomAD v2 gnomAD v4
17g.61456586C>TCA501138840TBX4c.96C>T (p.Pro32=)
c.-125-38C>T (n.-125-38C>T)
c.285C>T (p.Pro95=)
 gnomAD v4
17g.61456587G>ACA292260555TBX4c.97G>A (p.Ala33Thr)
c.-125-37G>A (n.-125-37G>A)
c.286G>A (p.Ala96Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.61456587G>CCA400468918TBX4c.97G>C (p.Ala33Pro)
c.-125-37G>C (n.-125-37G>C)
c.286G>C (p.Ala96Pro)
17g.61456587G=CA2269031336TBX4c.97G= (p.Ala33=)
c.-125-37G= (n.-125-37G=)
c.286G= (p.Ala96=)
17g.61456587G>TCA292260558TBX4c.97G>T (p.Ala33Ser)
c.-125-37G>T (n.-125-37G>T)
c.286G>T (p.Ala96Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.61456587dupCA2576344724TBX4c.97dup (p.Ala33GlyfsTer?)
c.-125-37dup (n.-125-37dup)
c.286dup (p.Ala96GlyfsTer?)
17g.61456588C>ACA292260560TBX4c.98C>A (p.Ala33Glu)
c.-125-36C>A (n.-125-36C>A)
c.287C>A (p.Ala96Glu)
 dbSNP gnomAD v4
17g.61456588C=CA2269031337TBX4c.98C= (p.Ala33=)
c.-125-36C= (n.-125-36C=)
c.287C= (p.Ala96=)
17g.61456588C>GCA400468921TBX4c.98C>G (p.Ala33Gly)
c.-125-36C>G (n.-125-36C>G)
c.287C>G (p.Ala96Gly)
 dbSNP
17g.61456588C>TCA400468922TBX4c.98C>T (p.Ala33Val)
c.-125-36C>T (n.-125-36C>T)
c.287C>T (p.Ala96Val)
 dbSNP gnomAD v4
17g.61456589G>ACA501138841TBX4c.99G>A (p.Ala33=)
c.-125-35G>A (n.-125-35G>A)
c.288G>A (p.Ala96=)
 gnomAD v4
17g.61456589G>CCA292260563TBX4c.99G>C (p.Ala33=)
c.-125-35G>C (n.-125-35G>C)
c.288G>C (p.Ala96=)
 dbSNP
17g.61456589G=CA2269031338TBX4c.99G= (p.Ala33=)
c.-125-35G= (n.-125-35G=)
c.288G= (p.Ala96=)
17g.61456589G>TCA501138842TBX4c.99G>T (p.Ala33=)
c.-125-35G>T (n.-125-35G>T)
c.288G>T (p.Ala96=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.61456590C>ACA400468924TBX4c.100C>A (p.Leu34Met)
c.-125-34C>A (n.-125-34C>A)
c.289C>A (p.Leu97Met)
 dbSNP
17g.61456590C>GCA400468926TBX4c.100C>G (p.Leu34Val)
c.-125-34C>G (n.-125-34C>G)
c.289C>G (p.Leu97Val)
17g.61456590C>TCA501138843TBX4c.100C>T (p.Leu34=)
c.-125-34C>T (n.-125-34C>T)
c.289C>T (p.Leu97=)
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
17g.61456604C>GCA501138857TBX4c.114C>G (p.Gly38=)
c.-125-20C>G (n.-125-20C>G)
c.303C>G (p.Gly101=)
17g.61456604C>TCA501138856TBX4c.114C>T (p.Gly38=)
c.-125-20C>T (n.-125-20C>T)
c.303C>T (p.Gly101=)
17g.61456605C>ACA400468970TBX4c.115C>A (p.Leu39Ile)
c.-125-19C>A (n.-125-19C>A)
c.304C>A (p.Leu102Ile)
17g.61456605C=CA2269031346TBX4c.115C= (p.Leu39=)
c.-125-19C= (n.-125-19C=)
c.304C= (p.Leu102=)
17g.61456605C>GCA400468972TBX4c.115C>G (p.Leu39Val)
c.-125-19C>G (n.-125-19C>G)
c.304C>G (p.Leu102Val)
17g.61456605C>TCA400468974TBX4c.115C>T (p.Leu39Phe)
c.-125-19C>T (n.-125-19C>T)
c.304C>T (p.Leu102Phe)
 dbSNP gnomAD v2 gnomAD v4
17g.61456606T>ACA400468976TBX4c.116T>A (p.Leu39His)
c.-125-18T>A (n.-125-18T>A)
c.305T>A (p.Leu102His)
17g.61456606T>CCA400468977TBX4c.116T>C (p.Leu39Pro)
c.-125-18T>C (n.-125-18T>C)
c.305T>C (p.Leu102Pro)
17g.61456606T>GCA400468979TBX4c.116T>G (p.Leu39Arg)
c.-125-18T>G (n.-125-18T>G)
c.305T>G (p.Leu102Arg)
17g.61456607C>ACA501138858TBX4c.117C>A (p.Leu39=)
c.-125-17C>A (n.-125-17C>A)
c.306C>A (p.Leu102=)
17g.61456607C>GCA501138859TBX4c.117C>G (p.Leu39=)
c.-125-17C>G (n.-125-17C>G)
c.306C>G (p.Leu102=)
17g.61456607C>TCA501138860TBX4c.117C>T (p.Leu39=)
c.-125-17C>T (n.-125-17C>T)
c.306C>T (p.Leu102=)
17g.61456608A>CCA400468983TBX4c.118A>C (p.Ser40Arg)
c.-125-16A>C (n.-125-16A>C)
c.307A>C (p.Ser103Arg)
17g.61456608A>GCA400468981TBX4c.118A>G (p.Ser40Gly)
c.-125-16A>G (n.-125-16A>G)
c.307A>G (p.Ser103Gly)
17g.61456608A>TCA400468982TBX4c.118A>T (p.Ser40Cys)
c.-125-16A>T (n.-125-16A>T)
c.307A>T (p.Ser103Cys)
17g.61456609G>ACA400468985TBX4c.119G>A (p.Ser40Asn)
c.-125-15G>A (n.-125-15G>A)
c.308G>A (p.Ser103Asn)
 dbSNP gnomAD v3 gnomAD v4
17g.61456609G>CCA400468986TBX4c.119G>C (p.Ser40Thr)
c.-125-15G>C (n.-125-15G>C)
c.308G>C (p.Ser103Thr)
17g.61456609G=CA2269031347TBX4c.119G= (p.Ser40=)
c.-125-15G= (n.-125-15G=)
c.308G= (p.Ser103=)
17g.61456609G>TCA400468988TBX4c.119G>T (p.Ser40Ile)
c.-125-15G>T (n.-125-15G>T)
c.308G>T (p.Ser103Ile)
 gnomAD v4
17g.61456610C>ACA400468990TBX4c.120C>A (p.Ser40Arg)
c.-125-14C>A (n.-125-14C>A)
c.309C>A (p.Ser103Arg)
 gnomAD v4
17g.61456610C>GCA400468991TBX4c.120C>G (p.Ser40Arg)
c.-125-14C>G (n.-125-14C>G)
c.309C>G (p.Ser103Arg)
17g.61456610C>TCA501138862TBX4c.120C>T (p.Ser40=)
c.-125-14C>T (n.-125-14C>T)
c.309C>T (p.Ser103=)
 gnomAD v4
17g.61456611G>ACA400468994TBX4c.121G>A (p.Gly41Arg)
c.-125-13G>A (n.-125-13G>A)
c.310G>A (p.Gly104Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.61456611G>CCA400468995TBX4c.121G>C (p.Gly41Arg)
c.-125-13G>C (n.-125-13G>C)
c.310G>C (p.Gly104Arg)
17g.61456611G=CA2269031348TBX4c.121G= (p.Gly41=)
c.-125-13G= (n.-125-13G=)
c.310G= (p.Gly104=)
17g.61456611G>TCA400468997TBX4c.121G>T (p.Gly41Ter)
c.-125-13G>T (n.-125-13G>T)
c.310G>T (p.Gly104Ter)
 ClinVar dbSNP
17g.61456612G>ACA400468999TBX4c.122G>A (p.Gly41Glu)
c.-125-12G>A (n.-125-12G>A)
c.311G>A (p.Gly104Glu)
17g.61456612G>CCA400469000TBX4c.122G>C (p.Gly41Ala)
c.-125-12G>C (n.-125-12G>C)
c.311G>C (p.Gly104Ala)
17g.61456612G>TCA400469002TBX4c.122G>T (p.Gly41Val)
c.-125-12G>T (n.-125-12G>T)
c.311G>T (p.Gly104Val)
17g.61456613A>CCA501138863TBX4c.123A>C (p.Gly41=)
c.-125-11A>C (n.-125-11A>C)
c.312A>C (p.Gly104=)
17g.61456613A>GCA501138864TBX4c.123A>G (p.Gly41=)
c.-125-11A>G (n.-125-11A>G)
c.312A>G (p.Gly104=)
17g.61456613A>TCA501138865TBX4c.123A>T (p.Gly41=)
c.-125-11A>T (n.-125-11A>T)
c.312A>T (p.Gly104=)
17g.61456614G>ACA400469007TBX4c.124G>A (p.Ala42Thr)
c.-125-10G>A (n.-125-10G>A)
c.313G>A (p.Ala105Thr)
17g.61456614G>CCA400469005TBX4c.124G>C (p.Ala42Pro)
c.-125-10G>C (n.-125-10G>C)
c.313G>C (p.Ala105Pro)
17g.61456614G>TCA400469004TBX4c.124G>T (p.Ala42Ser)
c.-125-10G>T (n.-125-10G>T)
c.313G>T (p.Ala105Ser)
17g.61456615C>ACA292260575TBX4c.125C>A (p.Ala42Asp)
c.-125-9C>A (n.-125-9C>A)
c.314C>A (p.Ala105Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.61456615C=CA2269031349TBX4c.125C= (p.Ala42=)
c.-125-9C= (n.-125-9C=)
c.314C= (p.Ala105=)
17g.61456615C>GCA400469012TBX4c.125C>G (p.Ala42Gly)
c.-125-9C>G (n.-125-9C>G)
c.314C>G (p.Ala105Gly)
 dbSNP gnomAD v3 gnomAD v4
17g.61456615C>TCA400469010TBX4c.125C>T (p.Ala42Val)
c.-125-9C>T (n.-125-9C>T)
c.314C>T (p.Ala105Val)
 dbSNP gnomAD v4
17g.61456616C>ACA501138866TBX4c.126C>A (p.Ala42=)
c.-125-8C>A (n.-125-8C>A)
c.315C>A (p.Ala105=)
 gnomAD v4
17g.61456616C=CA2269031350TBX4c.126C= (p.Ala42=)
c.-125-8C= (n.-125-8C=)
c.315C= (p.Ala105=)
17g.61456616C>GCA501138867TBX4c.126C>G (p.Ala42=)
c.-125-8C>G (n.-125-8C>G)
c.315C>G (p.Ala105=)
 dbSNP gnomAD v2 gnomAD v4
17g.61456616C>TCA292260577TBX4c.126C>T (p.Ala42=)
c.-125-8C>T (n.-125-8C>T)
c.315C>T (p.Ala105=)
 dbSNP gnomAD v3 gnomAD v4
17g.61456617G>ACA400469013TBX4c.127G>A (p.Ala43Thr)
c.-125-7G>A (n.-125-7G>A)
c.316G>A (p.Ala106Thr)
 gnomAD v4
17g.61456617G>CCA400469015TBX4c.127G>C (p.Ala43Pro)
c.-125-7G>C (n.-125-7G>C)
c.316G>C (p.Ala106Pro)
 gnomAD v4
17g.61456617G>TCA400469017TBX4c.127G>T (p.Ala43Ser)
c.-125-7G>T (n.-125-7G>T)
c.316G>T (p.Ala106Ser)
17g.61456618C>ACA400469019TBX4c.128C>A (p.Ala43Glu)
c.-125-6C>A (n.-125-6C>A)
c.317C>A (p.Ala106Glu)
17g.61456618C=CA2269031351TBX4c.128C= (p.Ala43=)
c.-125-6C= (n.-125-6C=)
c.317C= (p.Ala106=)
17g.61456618C>GCA400469020TBX4c.128C>G (p.Ala43Gly)
c.-125-6C>G (n.-125-6C>G)
c.317C>G (p.Ala106Gly)
 dbSNP gnomAD v4
17g.61456618C>TCA400469022TBX4c.128C>T (p.Ala43Val)
c.-125-6C>T (n.-125-6C>T)
c.317C>T (p.Ala106Val)
 dbSNP
17g.61456619G>ACA501138868TBX4c.129G>A (p.Ala43=)
c.-125-5G>A (n.-125-5G>A)
c.318G>A (p.Ala106=)
 gnomAD v4 COSMIC
17g.61456619G>CCA501138870TBX4c.129G>C (p.Ala43=)
c.-125-5G>C (n.-125-5G>C)
c.318G>C (p.Ala106=)
 gnomAD v4
17g.61456619G>TCA501138869TBX4c.129G>T (p.Ala43=)
c.-125-5G>T (n.-125-5G>T)
c.318G>T (p.Ala106=)
17g.61456620C>ACA400469024TBX4c.130C>A (p.Leu44Ile)
c.-125-4C>A (n.-125-4C>A)
c.319C>A (p.Leu107Ile)
 gnomAD v4
17g.61456620C>GCA400469025TBX4c.130C>G (p.Leu44Val)
c.-125-4C>G (n.-125-4C>G)
c.319C>G (p.Leu107Val)
17g.61456620C>TCA501138871TBX4c.130C>T (p.Leu44=)
c.-125-4C>T (n.-125-4C>T)
c.319C>T (p.Leu107=)
17g.61456621T>ACA400469027TBX4c.131T>A (p.Leu44Gln)
c.-125-3T>A (n.-125-3T>A)
c.320T>A (p.Leu107Gln)
17g.61456621T>CCA400469029TBX4c.131T>C (p.Leu44Pro)
c.-125-3T>C (n.-125-3T>C)
c.320T>C (p.Leu107Pro)
17g.61456621T>GCA400469030TBX4c.131T>G (p.Leu44Arg)
c.-125-3T>G (n.-125-3T>G)
c.320T>G (p.Leu107Arg)
17g.61456622A>CCA501138872TBX4c.132A>C (p.Leu44=)
c.-125-2A>C (n.-125-2A>C)
c.321A>C (p.Leu107=)
17g.61456622A>GCA501138873TBX4c.132A>G (p.Leu44=)
c.-125-2A>G (n.-125-2A>G)
c.321A>G (p.Leu107=)
17g.61456622A>TCA501138874TBX4c.132A>T (p.Leu44=)
c.-125-2A>T (n.-125-2A>T)
c.321A>T (p.Leu107=)
17g.61456623G>ACA400469035TBX4c.133G>A (p.Gly45Ser)
c.-125-1G>A (n.-125-1G>A)
c.322G>A (p.Gly108Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.61456623G>CCA400469033TBX4c.133G>C (p.Gly45Arg)
c.-125-1G>C (n.-125-1G>C)
c.322G>C (p.Gly108Arg)
17g.61456623G=CA2269031352TBX4c.133G= (p.Gly45=)
c.-125-1G= (n.-125-1G=)
c.322G= (p.Gly108=)
17g.61456623G>TCA400469032TBX4c.133G>T (p.Gly45Cys)
c.-125-1G>T (n.-125-1G>T)
c.322G>T (p.Gly108Cys)
 gnomAD v4
17g.61456624G>ACA400469037TBX4c.134G>A (p.Gly45Asp)
c.-125G>A (n.-125G>A)
c.323G>A (p.Gly108Asp)
17g.61456624G>CCA400469039TBX4c.134G>C (p.Gly45Ala)
c.-125G>C (n.-125G>C)
c.323G>C (p.Gly108Ala)
17g.61456624G>TCA400469040TBX4c.134G>T (p.Gly45Val)
c.-125G>T (n.-125G>T)
c.323G>T (p.Gly108Val)
17g.61456625C>ACA501138875TBX4c.135C>A (p.Gly45=)
c.-124C>A (n.-124C>A)
c.324C>A (p.Gly108=)
 gnomAD v4
17g.61456625C>GCA501138877TBX4c.135C>G (p.Gly45=)
c.-124C>G (n.-124C>G)
c.324C>G (p.Gly108=)
17g.61456625C>TCA501138876TBX4c.135C>T (p.Gly45=)
c.-124C>T (n.-124C>T)
c.324C>T (p.Gly108=)
 gnomAD v4
17g.61456626A>CCA400469042TBX4c.136A>C (p.Ser46Arg)
c.-123A>C (n.-123A>C)
c.325A>C (p.Ser109Arg)
17g.61456626A>GCA400469044TBX4c.136A>G (p.Ser46Gly)
c.-123A>G (n.-123A>G)
c.325A>G (p.Ser109Gly)
 gnomAD v4
17g.61456626A>TCA400469046TBX4c.136A>T (p.Ser46Cys)
c.-123A>T (n.-123A>T)
c.325A>T (p.Ser109Cys)
17g.61456627G>ACA400469048TBX4c.137G>A (p.Ser46Asn)
c.-122G>A (n.-122G>A)
c.326G>A (p.Ser109Asn)
 gnomAD v4
17g.61456627G>CCA400469050TBX4c.137G>C (p.Ser46Thr)
c.-122G>C (n.-122G>C)
c.326G>C (p.Ser109Thr)
 gnomAD v4
17g.61456627G>TCA400469051TBX4c.137G>T (p.Ser46Ile)
c.-122G>T (n.-122G>T)
c.326G>T (p.Ser109Ile)
 gnomAD v4
17g.61456627_61456628delinsGCCA2269031353TBX4c.137_138delinsGC (p.Ser46=)
c.-122_-121delinsGC (n.-122_-121delinsGC)
c.326_327delinsGC (p.Ser109=)
17g.61456628C>ACA400469053TBX4c.138C>A (p.Ser46Arg)
c.-121C>A (n.-121C>A)
c.327C>A (p.Ser109Arg)
 gnomAD v4
17g.61456628C=CA2269031354TBX4c.138C= (p.Ser46=)
c.-121C= (n.-121C=)
c.327C= (p.Ser109=)
17g.61456628C>GCA400469055TBX4c.138C>G (p.Ser46Arg)
c.-121C>G (n.-121C>G)
c.327C>G (p.Ser109Arg)
17g.61456628C>TCA292260580TBX4c.138C>T (p.Ser46=)
c.-121C>T (n.-121C>T)
c.327C>T (p.Ser109=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.61456633dupCA2573054517TBX4c.143dup (p.Pro50ThrfsTer24)
c.-116dup (n.-116dup)
c.332dup (p.Pro113ThrfsTer24)
 ClinVar dbSNP gnomAD v4
17g.61456633delCA627146399TBX4c.143del (p.Pro48ArgfsTer?)
c.-116del (n.-116del)
c.332del (p.Pro111ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v4
17g.61456629C>ACA400469060TBX4c.139C>A (p.Pro47Thr)
c.-120C>A (n.-120C>A)
c.328C>A (p.Pro110Thr)
 gnomAD v4
17g.61456629C>GCA400469058TBX4c.139C>G (p.Pro47Ala)
c.-120C>G (n.-120C>G)
c.328C>G (p.Pro110Ala)
 gnomAD v4
17g.61456629C>TCA400469057TBX4c.139C>T (p.Pro47Ser)
c.-120C>T (n.-120C>T)
c.328C>T (p.Pro110Ser)
 gnomAD v4
17g.61456630C>ACA400469062TBX4c.140C>A (p.Pro47His)
c.-119C>A (n.-119C>A)
c.329C>A (p.Pro110His)
 gnomAD v4
17g.61456630C=CA2269031355TBX4c.140C= (p.Pro47=)
c.-119C= (n.-119C=)
c.329C= (p.Pro110=)
17g.61456630C>GCA400469064TBX4c.140C>G (p.Pro47Arg)
c.-119C>G (n.-119C>G)
c.329C>G (p.Pro110Arg)
 dbSNP
17g.61456630C>TCA400469065TBX4c.140C>T (p.Pro47Leu)
c.-119C>T (n.-119C>T)
c.329C>T (p.Pro110Leu)
 gnomAD v4
17g.61456631C>ACA501138879TBX4c.141C>A (p.Pro47=)
c.-118C>A (n.-118C>A)
c.330C>A (p.Pro110=)
 gnomAD v4
17g.61456631C>GCA501138880TBX4c.141C>G (p.Pro47=)
c.-118C>G (n.-118C>G)
c.330C>G (p.Pro110=)
17g.61456631C>TCA501138881TBX4c.141C>T (p.Pro47=)
c.-118C>T (n.-118C>T)
c.330C>T (p.Pro110=)
 gnomAD v4
17g.61456632C>ACA400469068TBX4c.142C>A (p.Pro48Thr)
c.-117C>A (n.-117C>A)
c.331C>A (p.Pro111Thr)
17g.61456632C=CA2269031356TBX4c.142C= (p.Pro48=)
c.-117C= (n.-117C=)
c.331C= (p.Pro111=)
17g.61456632C>GCA292260582TBX4c.142C>G (p.Pro48Ala)
c.-117C>G (n.-117C>G)
c.331C>G (p.Pro111Ala)
 dbSNP gnomAD v4
17g.61456632C>TCA400469070TBX4c.142C>T (p.Pro48Ser)
c.-117C>T (n.-117C>T)
c.331C>T (p.Pro111Ser)
 dbSNP
17g.61456633C>ACA400469072TBX4c.143C>A (p.Pro48Gln)
c.-116C>A (n.-116C>A)
c.332C>A (p.Pro111Gln)
 gnomAD v4
17g.61456633C=CA2269031357TBX4c.143C= (p.Pro48=)
c.-116C= (n.-116C=)
c.332C= (p.Pro111=)
17g.61456633C>GCA400469074TBX4c.143C>G (p.Pro48Arg)
c.-116C>G (n.-116C>G)
c.332C>G (p.Pro111Arg)
 dbSNP gnomAD v4
17g.61456633C>TCA400469075TBX4c.143C>T (p.Pro48Leu)
c.-116C>T (n.-116C>T)
c.332C>T (p.Pro111Leu)
 dbSNP gnomAD v2 gnomAD v4
17g.61456634G>ACA501138884TBX4c.144G>A (p.Pro48=)
c.-115G>A (n.-115G>A)
c.333G>A (p.Pro111=)
 dbSNP gnomAD v4
17g.61456634G>CCA501138882TBX4c.144G>C (p.Pro48=)
c.-115G>C (n.-115G>C)
c.333G>C (p.Pro111=)
 gnomAD v4
17g.61456634G=CA2269031358TBX4c.144G= (p.Pro48=)
c.-115G= (n.-115G=)
c.333G= (p.Pro111=)
17g.61456634G>TCA501138883TBX4c.144G>T (p.Pro48=)
c.-115G>T (n.-115G>T)
c.333G>T (p.Pro111=)
17g.61456636delCA2573054518TBX4c.146del (p.Gly49AspfsTer?)
c.-113del (n.-113del)
c.335del (p.Gly112AspfsTer?)
 ClinVar dbSNP gnomAD v4
17g.61456635G>ACA400469078TBX4c.145G>A (p.Gly49Arg)
c.-114G>A (n.-114G>A)
c.334G>A (p.Gly112Arg)
 gnomAD v4
17g.61456635G>CCA400469080TBX4c.145G>C (p.Gly49Arg)
c.-114G>C (n.-114G>C)
c.334G>C (p.Gly112Arg)
 dbSNP gnomAD v3 gnomAD v4
17g.61456635G>TCA400469081TBX4c.145G>T (p.Gly49Ter)
c.-114G>T (n.-114G>T)
c.334G>T (p.Gly112Ter)
 gnomAD v4
17g.61456636G>ACA400469086TBX4c.146G>A (p.Gly49Glu)
c.-113G>A (n.-113G>A)
c.335G>A (p.Gly112Glu)
 gnomAD v4
17g.61456636G>CCA400469084TBX4c.146G>C (p.Gly49Ala)
c.-113G>C (n.-113G>C)
c.335G>C (p.Gly112Ala)
 gnomAD v4
17g.61456636G=CA2269031359TBX4c.146G= (p.Gly49=)
c.-113G= (n.-113G=)
c.335G= (p.Gly112=)
17g.61456636G>TCA292260589TBX4c.146G>T (p.Gly49Val)
c.-113G>T (n.-113G>T)
c.335G>T (p.Gly112Val)
 dbSNP gnomAD v3 gnomAD v4
17g.61456637A>CCA501138885TBX4c.147A>C (p.Gly49=)
c.-112A>C (n.-112A>C)
c.336A>C (p.Gly112=)
 gnomAD v3 gnomAD v4
17g.61456637A>GCA501138886TBX4c.147A>G (p.Gly49=)
c.-112A>G (n.-112A>G)
c.336A>G (p.Gly112=)
 gnomAD v4
17g.61456637A>TCA501138887TBX4c.147A>T (p.Gly49=)
c.-112A>T (n.-112A>T)
c.336A>T (p.Gly112=)
17g.61456638C>ACA400469087TBX4c.148C>A (p.Pro50Thr)
c.-111C>A (n.-111C>A)
c.337C>A (p.Pro113Thr)
 gnomAD v4
17g.61456638C=CA2269031360TBX4c.148C= (p.Pro50=)
c.-111C= (n.-111C=)
c.337C= (p.Pro113=)
17g.61456638C>GCA400469089TBX4c.148C>G (p.Pro50Ala)
c.-111C>G (n.-111C>G)
c.337C>G (p.Pro113Ala)
17g.61456638C>TCA400469091TBX4c.148C>T (p.Pro50Ser)
c.-111C>T (n.-111C>T)
c.337C>T (p.Pro113Ser)
 dbSNP gnomAD v4
17g.61456640delCA2573054519TBX4c.150del (p.Ala52ProfsTer?)
c.-109del (n.-109del)
c.339del (p.Ala115ProfsTer?)
 ClinVar dbSNP
17g.61456639C>ACA400469093TBX4c.149C>A (p.Pro50His)
c.-110C>A (n.-110C>A)
c.338C>A (p.Pro113His)
 gnomAD v4
17g.61456639C>GCA400469094TBX4c.149C>G (p.Pro50Arg)
c.-110C>G (n.-110C>G)
c.338C>G (p.Pro113Arg)
17g.61456639C>TCA400469096TBX4c.149C>T (p.Pro50Leu)
c.-110C>T (n.-110C>T)
c.338C>T (p.Pro113Leu)
17g.61456640C>ACA501138888TBX4c.150C>A (p.Pro50=)
c.-109C>A (n.-109C>A)
c.339C>A (p.Pro113=)
 gnomAD v4
17g.61456640C=CA2269031361TBX4c.150C= (p.Pro50=)
c.-109C= (n.-109C=)
c.339C= (p.Pro113=)
17g.61456640C>GCA501138889TBX4c.150C>G (p.Pro50=)
c.-109C>G (n.-109C>G)
c.339C>G (p.Pro113=)
17g.61456640C>TCA8689737TBX4c.150C>T (p.Pro50=)
c.-109C>T (n.-109C>T)
c.339C>T (p.Pro113=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.61456643_61456671delCA2573054520TBX4c.153_181del (p.Val54HisfsTer10)
c.-106_-78del (n.-106_-78del)
c.342_370del (p.Val117HisfsTer10)
 ClinVar dbSNP
17g.61456648_61456732delCA2639148318TBX4c.158_186+56del
c.-101_-73+56del
c.347_375+56del
 gnomAD v4
17g.61456641G>ACA292260593TBX4c.151G>A (p.Gly51Arg)
c.-108G>A (n.-108G>A)
c.340G>A (p.Gly114Arg)
 dbSNP gnomAD v4
17g.61456641G>CCA400469100TBX4c.151G>C (p.Gly51Arg)
c.-108G>C (n.-108G>C)
c.340G>C (p.Gly114Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.61456641G=CA2269031362TBX4c.151G= (p.Gly51=)
c.-108G= (n.-108G=)
c.340G= (p.Gly114=)
17g.61456641G>TCA400469102TBX4c.151G>T (p.Gly51Trp)
c.-108G>T (n.-108G>T)
c.340G>T (p.Gly114Trp)
 gnomAD v4
17g.61456644delCA501138890TBX4c.154del (p.Ala52ProfsTer?)
c.-105del (n.-105del)
c.343del (p.Ala115ProfsTer?)
 gnomAD v4
17g.61456642G>ACA400469104TBX4c.152G>A (p.Gly51Glu)
c.-107G>A (n.-107G>A)
c.341G>A (p.Gly114Glu)
 gnomAD v4
17g.61456642G>CCA400469105TBX4c.152G>C (p.Gly51Ala)
c.-107G>C (n.-107G>C)
c.341G>C (p.Gly114Ala)
17g.61456642G>TCA400469107TBX4c.152G>T (p.Gly51Val)
c.-107G>T (n.-107G>T)
c.341G>T (p.Gly114Val)
 gnomAD v4
17g.61456642_61456669delinsGGGCCGACGTCGTCGCCGCCGCCGCCGCCA2269031363TBX4c.152_179delinsGGGCCGACGTCGTCGCCGCCGCCGCCGC (p.Gly51=)
c.-107_-80delinsGGGCCGACGTCGTCGCCGCCGCCGCCGC (n.-107_-80delinsGGGCCGACGTCGTCGCCGCCGCCGCCGC)
c.341_368delinsGGGCCGACGTCGTCGCCGCCGCCGCCGC (p.Gly114=)
17g.61456643G>ACA292260595TBX4c.153G>A (p.Gly51=)
c.-106G>A (n.-106G>A)
c.342G>A (p.Gly114=)
 dbSNP gnomAD v2 gnomAD v4
17g.61456643G>CCA501138891TBX4c.153G>C (p.Gly51=)
c.-106G>C (n.-106G>C)
c.342G>C (p.Gly114=)
17g.61456643G=CA2269031365TBX4c.153G= (p.Gly51=)
c.-106G= (n.-106G=)
c.342G= (p.Gly114=)
17g.61456643G>TCA501138892TBX4c.153G>T (p.Gly51=)
c.-106G>T (n.-106G>T)
c.342G>T (p.Gly114=)
 gnomAD v4
17g.61456645_61456671delCA2269031364TBX4c.155_181del (p.Ala52_Ala60del)
c.-104_-78del (n.-104_-78del)
c.344_370del (p.Ala115_Ala123del)
 dbSNP
17g.61456644G>ACA8689738TBX4c.154G>A (p.Ala52Thr)
c.-105G>A (n.-105G>A)
c.343G>A (p.Ala115Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.61456644G>CCA400469111TBX4c.154G>C (p.Ala52Pro)
c.-105G>C (n.-105G>C)
c.343G>C (p.Ala115Pro)
17g.61456644G=CA2269031366TBX4c.154G= (p.Ala52=)
c.-105G= (n.-105G=)
c.343G= (p.Ala115=)
17g.61456644G>TCA400469109TBX4c.154G>T (p.Ala52Ser)
c.-105G>T (n.-105G>T)
c.343G>T (p.Ala115Ser)
 gnomAD v4
17g.61456645C>ACA400469115TBX4c.155C>A (p.Ala52Asp)
c.-104C>A (n.-104C>A)
c.344C>A (p.Ala115Asp)
 gnomAD v4
17g.61456645C=CA2269031367TBX4c.155C= (p.Ala52=)
c.-104C= (n.-104C=)
c.344C= (p.Ala115=)
17g.61456645C>GCA400469113TBX4c.155C>G (p.Ala52Gly)
c.-104C>G (n.-104C>G)
c.344C>G (p.Ala115Gly)
17g.61456645C>TCA292260600TBX4c.155C>T (p.Ala52Val)
c.-104C>T (n.-104C>T)
c.344C>T (p.Ala115Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.61456646C>ACA8689739TBX4c.156C>A (p.Ala52=)
c.-103C>A (n.-103C>A)
c.345C>A (p.Ala115=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.61456646C=CA2269031368TBX4c.156C= (p.Ala52=)
c.-103C= (n.-103C=)
c.345C= (p.Ala115=)
17g.61456646C>GCA501138893TBX4c.156C>G (p.Ala52=)
c.-103C>G (n.-103C>G)
c.345C>G (p.Ala115=)
 dbSNP gnomAD v4
17g.61456646C>TCA501138894TBX4c.156C>T (p.Ala52=)
c.-103C>T (n.-103C>T)
c.345C>T (p.Ala115=)
 dbSNP gnomAD v4
17g.61456648_61456656dupCA2269031369TBX4c.158_166dup (p.Val55_Ala56insAspValVal)
c.-101_-93dup (n.-101_-93dup)
c.347_355dup (p.Val118_Ala119insAspValVal)
 dbSNP
17g.61456647G>ACA400469119TBX4c.157G>A (p.Asp53Asn)
c.-102G>A (n.-102G>A)
c.346G>A (p.Asp116Asn)
 gnomAD v4
17g.61456647G>CCA400469120TBX4c.157G>C (p.Asp53His)
c.-102G>C (n.-102G>C)
c.346G>C (p.Asp116His)
17g.61456647G>TCA400469121TBX4c.157G>T (p.Asp53Tyr)
c.-102G>T (n.-102G>T)
c.346G>T (p.Asp116Tyr)
 gnomAD v4
17g.61456647_61456648insCCTGTGTCA2639148357TBX4c.157_158insCCTGTGT (p.Asp53AlafsTer23)
c.-102_-101insCCTGTGT (n.-102_-101insCCTGTGT)
c.346_347insCCTGTGT (p.Asp116AlafsTer23)
 gnomAD v4
17g.61456648A>CCA400469123TBX4c.158A>C (p.Asp53Ala)
c.-101A>C (n.-101A>C)
c.347A>C (p.Asp116Ala)
 gnomAD v4
17g.61456648A>GCA400469124TBX4c.158A>G (p.Asp53Gly)
c.-101A>G (n.-101A>G)
c.347A>G (p.Asp116Gly)
 gnomAD v4
17g.61456648A>TCA400469126TBX4c.158A>T (p.Asp53Val)
c.-101A>T (n.-101A>T)
c.347A>T (p.Asp116Val)
17g.61456648_61456651delinsACGTCA2269031370TBX4c.158_161delinsACGT (p.Asp53=)
c.-101_-98delinsACGT (n.-101_-98delinsACGT)
c.347_350delinsACGT (p.Asp116=)
17g.61456649C>ACA400469127TBX4c.159C>A (p.Asp53Glu)
c.-100C>A (n.-100C>A)
c.348C>A (p.Asp116Glu)
 dbSNP gnomAD v3 gnomAD v4
17g.61456649C=CA2269031372TBX4c.159C= (p.Asp53=)
c.-100C= (n.-100C=)
c.348C= (p.Asp116=)
17g.61456649C>GCA400469129TBX4c.159C>G (p.Asp53Glu)
c.-100C>G (n.-100C>G)
c.348C>G (p.Asp116Glu)
 gnomAD v4
17g.61456649C>TCA8689740TBX4c.159C>T (p.Asp53=)
c.-100C>T (n.-100C>T)
c.348C>T (p.Asp116=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.61456654_61456656dupCA2269031371TBX4c.164_166dup (p.Val55_Ala56insVal)
c.-95_-93dup (n.-95_-93dup)
c.353_355dup (p.Val118_Ala119insVal)
 dbSNP
17g.61456654_61456656delCA627146400TBX4c.164_166del (p.Val55del)
c.-95_-93del (n.-95_-93del)
c.353_355del (p.Val118del)
 dbSNP gnomAD v2 gnomAD v4
17g.61456649_61456650insTGTCA2639148370TBX4c.159_160insTGT (p.Asp53_Val54insCys)
c.-100_-99insTGT (n.-100_-99insTGT)
c.348_349insTGT (p.Asp116_Val117insCys)
 gnomAD v4
17g.61456650G>ACA400469131TBX4c.160G>A (p.Val54Ile)
c.-99G>A (n.-99G>A)
c.349G>A (p.Val117Ile)
 gnomAD v4
17g.61456650G>CCA400469132TBX4c.160G>C (p.Val54Leu)
c.-99G>C (n.-99G>C)
c.349G>C (p.Val117Leu)
17g.61456650G>TCA400469134TBX4c.160G>T (p.Val54Phe)
c.-99G>T (n.-99G>T)
c.349G>T (p.Val117Phe)
17g.61456651T>ACA400469136TBX4c.161T>A (p.Val54Asp)
c.-98T>A (n.-98T>A)
c.350T>A (p.Val117Asp)
17g.61456651T>CCA8689741TBX4c.161T>C (p.Val54Ala)
c.-98T>C (n.-98T>C)
c.350T>C (p.Val117Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.61456651T>GCA400469138TBX4c.161T>G (p.Val54Gly)
c.-98T>G (n.-98T>G)
c.350T>G (p.Val117Gly)
17g.61456651T=CA2269031373TBX4c.161T= (p.Val54=)
c.-98T= (n.-98T=)
c.350T= (p.Val117=)
17g.61456652C>ACA501138895TBX4c.162C>A (p.Val54=)
c.-97C>A (n.-97C>A)
c.351C>A (p.Val117=)
 gnomAD v4
17g.61456652C>GCA501138896TBX4c.162C>G (p.Val54=)
c.-97C>G (n.-97C>G)
c.351C>G (p.Val117=)
17g.61456652C>TCA501138897TBX4c.162C>T (p.Val54=)
c.-97C>T (n.-97C>T)
c.351C>T (p.Val117=)
 gnomAD v4
17g.61456654_61456659dupCA2639148372TBX4c.164_169dup (p.Ala56_Ala57insValAla)
c.-95_-90dup (n.-95_-90dup)
c.353_358dup (p.Ala119_Ala120insValAla)
 gnomAD v4
17g.61456653G>ACA400469141TBX4c.163G>A (p.Val55Ile)
c.-96G>A (n.-96G>A)
c.352G>A (p.Val118Ile)
 gnomAD v4
17g.61456653G>CCA400469142TBX4c.163G>C (p.Val55Leu)
c.-96G>C (n.-96G>C)
c.352G>C (p.Val118Leu)
17g.61456653G>TCA400469144TBX4c.163G>T (p.Val55Phe)
c.-96G>T (n.-96G>T)
c.352G>T (p.Val118Phe)
 gnomAD v4
17g.61456654T>ACA400469145TBX4c.164T>A (p.Val55Asp)
c.-95T>A (n.-95T>A)
c.353T>A (p.Val118Asp)
17g.61456654T>CCA400469147TBX4c.164T>C (p.Val55Ala)
c.-95T>C (n.-95T>C)
c.353T>C (p.Val118Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.61456654T>GCA400469149TBX4c.164T>G (p.Val55Gly)
c.-95T>G (n.-95T>G)
c.353T>G (p.Val118Gly)
17g.61456654T=CA2269031375TBX4c.164T= (p.Val55=)
c.-95T= (n.-95T=)
c.353T= (p.Val118=)
17g.61456654_61456660delinsTCGCCGCCA2269031374TBX4c.164_170delinsTCGCCGC (p.Val55=)
c.-95_-89delinsTCGCCGC (n.-95_-89delinsTCGCCGC)
c.353_359delinsTCGCCGC (p.Val118=)
17g.61456655C>ACA501138900TBX4c.165C>A (p.Val55=)
c.-94C>A (n.-94C>A)
c.354C>A (p.Val118=)
 gnomAD v4
17g.61456655C>GCA501138899TBX4c.165C>G (p.Val55=)
c.-94C>G (n.-94C>G)
c.354C>G (p.Val118=)
17g.61456655C>TCA501138898TBX4c.165C>T (p.Val55=)
c.-94C>T (n.-94C>T)
c.354C>T (p.Val118=)
 gnomAD v4
17g.61456667_61456669dupCA292260614TBX4c.177_179dup (p.Ala60_Glu61insAla)
c.-82_-80dup (n.-82_-80dup)
c.366_368dup (p.Ala123_Glu124insAla)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.61456664_61456669dupCA2639148388TBX4c.174_179dup (p.Ala60_Glu61insAlaAla)
c.-85_-80dup (n.-85_-80dup)
c.363_368dup (p.Ala123_Glu124insAlaAla)
 gnomAD v4
17g.61456667_61456669delCA8689742TBX4c.177_179del (p.Ala60del)
c.-82_-80del (n.-82_-80del)
c.366_368del (p.Ala123del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.61456664_61456669delCA627146401TBX4c.174_179del (p.Ala59_Ala60del)
c.-85_-80del (n.-85_-80del)
c.363_368del (p.Ala122_Ala123del)
 dbSNP gnomAD v2 gnomAD v4
17g.61456656G>ACA400469151TBX4c.166G>A (p.Ala56Thr)
c.-93G>A (n.-93G>A)
c.355G>A (p.Ala119Thr)
 gnomAD v4
17g.61456656G>CCA400469153TBX4c.166G>C (p.Ala56Pro)
c.-93G>C (n.-93G>C)
c.355G>C (p.Ala119Pro)
 gnomAD v4
17g.61456656G>TCA400469155TBX4c.166G>T (p.Ala56Ser)
c.-93G>T (n.-93G>T)
c.355G>T (p.Ala119Ser)
 gnomAD v4
17g.61456657C>ACA400469157TBX4c.167C>A (p.Ala56Asp)
c.-92C>A (n.-92C>A)
c.356C>A (p.Ala119Asp)
 gnomAD v4
17g.61456657C>GCA400469159TBX4c.167C>G (p.Ala56Gly)
c.-92C>G (n.-92C>G)
c.356C>G (p.Ala119Gly)
 gnomAD v4
17g.61456657C>TCA400469156TBX4c.167C>T (p.Ala56Val)
c.-92C>T (n.-92C>T)
c.356C>T (p.Ala119Val)
 ClinVar dbSNP gnomAD v4
17g.61456658delCA2639148397TBX4c.168del (p.Ala57ProfsTer?)
c.-91del (n.-91del)
c.357del (p.Ala120ProfsTer?)
 gnomAD v4
17g.61456658C>ACA501138901TBX4c.168C>A (p.Ala56=)
c.-91C>A (n.-91C>A)
c.357C>A (p.Ala119=)
 gnomAD v4
17g.61456658C>GCA501138902TBX4c.168C>G (p.Ala56=)
c.-91C>G (n.-91C>G)
c.357C>G (p.Ala119=)
 gnomAD v4
17g.61456658C>TCA501138903TBX4c.168C>T (p.Ala56=)
c.-91C>T (n.-91C>T)
c.357C>T (p.Ala119=)
 gnomAD v4
17g.61456659delCA2639148404TBX4c.169del (p.Ala57ProfsTer?)
c.-90del (n.-90del)
c.358del (p.Ala120ProfsTer?)
 gnomAD v4
17g.61456659G>ACA400469161TBX4c.169G>A (p.Ala57Thr)
c.-90G>A (n.-90G>A)
c.358G>A (p.Ala120Thr)
 gnomAD v4
17g.61456659G>CCA400469163TBX4c.169G>C (p.Ala57Pro)
c.-90G>C (n.-90G>C)
c.358G>C (p.Ala120Pro)
 gnomAD v4
17g.61456659G=CA2269031376TBX4c.169G= (p.Ala57=)
c.-90G= (n.-90G=)
c.358G= (p.Ala120=)
17g.61456659G>TCA400469164TBX4c.169G>T (p.Ala57Ser)
c.-90G>T (n.-90G>T)
c.358G>T (p.Ala120Ser)
 dbSNP gnomAD v3 gnomAD v4
17g.61456660C>ACA400469167TBX4c.170C>A (p.Ala57Asp)
c.-89C>A (n.-89C>A)
c.359C>A (p.Ala120Asp)
 gnomAD v4
17g.61456660C>GCA400469168TBX4c.170C>G (p.Ala57Gly)
c.-89C>G (n.-89C>G)
c.359C>G (p.Ala120Gly)
17g.61456660C>TCA400469170TBX4c.170C>T (p.Ala57Val)
c.-89C>T (n.-89C>T)
c.359C>T (p.Ala120Val)
 gnomAD v4
17g.61456661delCA2639148410TBX4c.171del (p.Ala58ProfsTer?)
c.-88del (n.-88del)
c.360del (p.Ala121ProfsTer?)
 gnomAD v4
17g.61456661C>ACA501138904TBX4c.171C>A (p.Ala57=)
c.-88C>A (n.-88C>A)
c.360C>A (p.Ala120=)
 gnomAD v4
17g.61456661C>GCA501138905TBX4c.171C>G (p.Ala57=)
c.-88C>G (n.-88C>G)
c.360C>G (p.Ala120=)
 gnomAD v4
17g.61456661C>TCA501138906TBX4c.171C>T (p.Ala57=)
c.-88C>T (n.-88C>T)
c.360C>T (p.Ala120=)
 gnomAD v4
17g.61456662G>ACA8689743TBX4c.172G>A (p.Ala58Thr)
c.-87G>A (n.-87G>A)
c.361G>A (p.Ala121Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.61456662G>CCA400469173TBX4c.172G>C (p.Ala58Pro)
c.-87G>C (n.-87G>C)
c.361G>C (p.Ala121Pro)
17g.61456662G=CA2269031377TBX4c.172G= (p.Ala58=)
c.-87G= (n.-87G=)
c.361G= (p.Ala121=)
17g.61456662G>TCA400469174TBX4c.172G>T (p.Ala58Ser)
c.-87G>T (n.-87G>T)
c.361G>T (p.Ala121Ser)
 gnomAD v4
17g.61456663C>ACA400469175TBX4c.173C>A (p.Ala58Asp)
c.-86C>A (n.-86C>A)
c.362C>A (p.Ala121Asp)
 gnomAD v4
17g.61456663C>GCA400469178TBX4c.173C>G (p.Ala58Gly)
c.-86C>G (n.-86C>G)
c.362C>G (p.Ala121Gly)
 gnomAD v4
17g.61456663C>TCA400469180TBX4c.173C>T (p.Ala58Val)
c.-86C>T (n.-86C>T)
c.362C>T (p.Ala121Val)
 gnomAD v4
17g.61456664C>ACA501138907TBX4c.174C>A (p.Ala58=)
c.-85C>A (n.-85C>A)
c.363C>A (p.Ala121=)
 gnomAD v4
17g.61456664C=CA2269031378TBX4c.174C= (p.Ala58=)
c.-85C= (n.-85C=)
c.363C= (p.Ala121=)
17g.61456664C>GCA501138908TBX4c.174C>G (p.Ala58=)
c.-85C>G (n.-85C>G)
c.363C>G (p.Ala121=)
 dbSNP gnomAD v4
17g.61456664C>TCA501138909TBX4c.174C>T (p.Ala58=)
c.-85C>T (n.-85C>T)
c.363C>T (p.Ala121=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.61456665G>ACA8689744TBX4c.175G>A (p.Ala59Thr)
c.-84G>A (n.-84G>A)
c.364G>A (p.Ala122Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.61456665G>CCA400469184TBX4c.175G>C (p.Ala59Pro)
c.-84G>C (n.-84G>C)
c.364G>C (p.Ala122Pro)
17g.61456665G=CA2269031379TBX4c.175G= (p.Ala59=)
c.-84G= (n.-84G=)
c.364G= (p.Ala122=)
17g.61456665G>TCA400469181TBX4c.175G>T (p.Ala59Ser)
c.-84G>T (n.-84G>T)
c.364G>T (p.Ala122Ser)
 gnomAD v4
17g.61456666C>ACA400469186TBX4c.176C>A (p.Ala59Asp)
c.-83C>A (n.-83C>A)
c.365C>A (p.Ala122Asp)
 gnomAD v4
17g.61456666C>GCA400469188TBX4c.176C>G (p.Ala59Gly)
c.-83C>G (n.-83C>G)
c.365C>G (p.Ala122Gly)
17g.61456666C>TCA400469190TBX4c.176C>T (p.Ala59Val)
c.-83C>T (n.-83C>T)
c.365C>T (p.Ala122Val)
 gnomAD v4
17g.61456667C>ACA501138910TBX4c.177C>A (p.Ala59=)
c.-82C>A (n.-82C>A)
c.366C>A (p.Ala122=)
 gnomAD v4
17g.61456667C=CA2269031380TBX4c.177C= (p.Ala59=)
c.-82C= (n.-82C=)
c.366C= (p.Ala122=)
17g.61456667C>GCA501138911TBX4c.177C>G (p.Ala59=)
c.-82C>G (n.-82C>G)
c.366C>G (p.Ala122=)
 gnomAD v4
17g.61456667C>TCA292260620TBX4c.177C>T (p.Ala59=)
c.-82C>T (n.-82C>T)
c.366C>T (p.Ala122=)
 dbSNP gnomAD v3 gnomAD v4
17g.61456669_61456670dupCA2580613183TBX4c.179_180dup (p.Glu61ArgfsTer28)
c.-80_-79dup (n.-80_-79dup)
c.368_369dup (p.Glu124ArgfsTer28)
 ClinVar dbSNP
17g.61456669_61456670delCA2639148449TBX4c.179_180del (p.Ala60GlyfsTer13)
c.-80_-79del (n.-80_-79del)
c.368_369del (p.Ala123GlyfsTer13)
 gnomAD v4
17g.61456668G>ACA400469191TBX4c.178G>A (p.Ala60Thr)
c.-81G>A (n.-81G>A)
c.367G>A (p.Ala123Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.61456668G>CCA400469192TBX4c.178G>C (p.Ala60Pro)
c.-81G>C (n.-81G>C)
c.367G>C (p.Ala123Pro)
17g.61456668G=CA2269031381TBX4c.178G= (p.Ala60=)
c.-81G= (n.-81G=)
c.367G= (p.Ala123=)
17g.61456668G>TCA400469194TBX4c.178G>T (p.Ala60Ser)
c.-81G>T (n.-81G>T)
c.367G>T (p.Ala123Ser)
 gnomAD v4
17g.61456669C>ACA400469200TBX4c.179C>A (p.Ala60Glu)
c.-80C>A (n.-80C>A)
c.368C>A (p.Ala123Glu)
 gnomAD v4
17g.61456669C>GCA400469196TBX4c.179C>G (p.Ala60Gly)
c.-80C>G (n.-80C>G)
c.368C>G (p.Ala123Gly)
17g.61456669C>TCA400469198TBX4c.179C>T (p.Ala60Val)
c.-80C>T (n.-80C>T)
c.368C>T (p.Ala123Val)
 gnomAD v4
17g.61456670G>ACA501138912TBX4c.180G>A (p.Ala60=)
c.-79G>A (n.-79G>A)
c.369G>A (p.Ala123=)
 gnomAD v4
17g.61456670G>CCA501138913TBX4c.180G>C (p.Ala60=)
c.-79G>C (n.-79G>C)
c.369G>C (p.Ala123=)
17g.61456670G>TCA501138914TBX4c.180G>T (p.Ala60=)
c.-79G>T (n.-79G>T)
c.369G>T (p.Ala123=)
 gnomAD v4
17g.61456671G>ACA400469202TBX4c.181G>A (p.Glu61Lys)
c.-78G>A (n.-78G>A)
c.370G>A (p.Glu124Lys)
 gnomAD v4
17g.61456671G>CCA400469204TBX4c.181G>C (p.Glu61Gln)
c.-78G>C (n.-78G>C)
c.370G>C (p.Glu124Gln)
 dbSNP
17g.61456671G=CA2269031382TBX4c.181G= (p.Glu61=)
c.-78G= (n.-78G=)
c.370G= (p.Glu124=)
17g.61456671G>TCA400469205TBX4c.181G>T (p.Glu61Ter)
c.-78G>T (n.-78G>T)
c.370G>T (p.Glu124Ter)
 gnomAD v4
17g.61456672A>CCA400469207TBX4c.182A>C (p.Glu61Ala)
c.-77A>C (n.-77A>C)
c.371A>C (p.Glu124Ala)
17g.61456672A>GCA400469209TBX4c.182A>G (p.Glu61Gly)
c.-77A>G (n.-77A>G)
c.371A>G (p.Glu124Gly)
 gnomAD v4
17g.61456672A>TCA400469210TBX4c.182A>T (p.Glu61Val)
c.-77A>T (n.-77A>T)
c.371A>T (p.Glu124Val)

Number of alleles fetched