Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.114355652_114355686delCA2573148002TBX5c.1407_1441del (p.Gln469HisfsTer6)
c.1257_1291del (p.Gln419HisfsTer6)
c.1455_1489del (p.Gln485HisfsTer6)
 ClinVar dbSNP
12g.114355676C>ACA482139108TBX5c.1413G>T (p.Gly471=)
c.1263G>T (p.Gly421=)
c.1461G>T (p.Gly487=)
 dbSNP
12g.114355676C=CA2064633508TBX5c.1413G= (p.Gly471=)
c.1263G= (p.Gly421=)
c.1461G= (p.Gly487=)
12g.114355676C>GCA482139109TBX5c.1413G>C (p.Gly471=)
c.1263G>C (p.Gly421=)
c.1461G>C (p.Gly487=)
12g.114355676C>TCA6809343TBX5c.1413G>A (p.Gly471=)
c.1263G>A (p.Gly421=)
c.1461G>A (p.Gly487=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114355677C>ACA386925115TBX5c.1412G>T (p.Gly471Val)
c.1262G>T (p.Gly421Val)
c.1460G>T (p.Gly487Val)
 dbSNP
12g.114355677C>GCA386925116TBX5c.1412G>C (p.Gly471Ala)
c.1262G>C (p.Gly421Ala)
c.1460G>C (p.Gly487Ala)
 gnomAD v4
12g.114355677C>TCA386925117TBX5c.1412G>A (p.Gly471Glu)
c.1262G>A (p.Gly421Glu)
c.1460G>A (p.Gly487Glu)
12g.114355677_114355678delinsAACA645575437TBX5c.1411_1412delinsTT (p.Gly471Leu)
c.1261_1262delinsTT (p.Gly421Leu)
c.1459_1460delinsTT (p.Gly487Leu)
 COSMIC
12g.114355678C>ACA386925120TBX5c.1411G>T (p.Gly471Trp)
c.1261G>T (p.Gly421Trp)
c.1459G>T (p.Gly487Trp)
12g.114355678C>GCA386925119TBX5c.1411G>C (p.Gly471Arg)
c.1261G>C (p.Gly421Arg)
c.1459G>C (p.Gly487Arg)
12g.114355678C>TCA386925118TBX5c.1411G>A (p.Gly471Arg)
c.1261G>A (p.Gly421Arg)
c.1459G>A (p.Gly487Arg)
12g.114355679A>CCA386925121TBX5c.1410T>G (p.Cys470Trp)
c.1260T>G (p.Cys420Trp)
c.1458T>G (p.Cys486Trp)
12g.114355679A>GCA482139110TBX5c.1410T>C (p.Cys470=)
c.1260T>C (p.Cys420=)
c.1458T>C (p.Cys486=)
12g.114355679A>TCA386925122TBX5c.1410T>A (p.Cys470Ter)
c.1260T>A (p.Cys420Ter)
c.1458T>A (p.Cys486Ter)
12g.114355680C>ACA386925123TBX5c.1409G>T (p.Cys470Phe)
c.1259G>T (p.Cys420Phe)
c.1457G>T (p.Cys486Phe)
 gnomAD v4 COSMIC
12g.114355680C=CA2064633509TBX5c.1409G= (p.Cys470=)
c.1259G= (p.Cys420=)
c.1457G= (p.Cys486=)
12g.114355680C>GCA386925124TBX5c.1409G>C (p.Cys470Ser)
c.1259G>C (p.Cys420Ser)
c.1457G>C (p.Cys486Ser)
12g.114355680C>TCA386925125TBX5c.1409G>A (p.Cys470Tyr)
c.1259G>A (p.Cys420Tyr)
c.1457G>A (p.Cys486Tyr)
 dbSNP gnomAD v2 gnomAD v4
12g.114355681A>CCA386925126TBX5c.1408T>G (p.Cys470Gly)
c.1258T>G (p.Cys420Gly)
c.1456T>G (p.Cys486Gly)
12g.114355681A>GCA386925127TBX5c.1408T>C (p.Cys470Arg)
c.1258T>C (p.Cys420Arg)
c.1456T>C (p.Cys486Arg)
12g.114355681A>TCA386925128TBX5c.1408T>A (p.Cys470Ser)
c.1258T>A (p.Cys420Ser)
c.1456T>A (p.Cys486Ser)
12g.114355682C>ACA386925129TBX5c.1407G>T (p.Gln469His)
c.1257G>T (p.Gln419His)
c.1455G>T (p.Gln485His)
12g.114355682C=CA2064633510TBX5c.1407G= (p.Gln469=)
c.1257G= (p.Gln419=)
c.1455G= (p.Gln485=)
12g.114355682C>GCA6809344TBX5c.1407G>C (p.Gln469His)
c.1257G>C (p.Gln419His)
c.1455G>C (p.Gln485His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.114355682C>TCA482139111TBX5c.1407G>A (p.Gln469=)
c.1257G>A (p.Gln419=)
c.1455G>A (p.Gln485=)
 dbSNP
12g.114355683T>ACA386925130TBX5c.1406A>T (p.Gln469Leu)
c.1256A>T (p.Gln419Leu)
c.1454A>T (p.Gln485Leu)
12g.114355683T>CCA386925131TBX5c.1406A>G (p.Gln469Arg)
c.1256A>G (p.Gln419Arg)
c.1454A>G (p.Gln485Arg)
12g.114355683T>GCA386925132TBX5c.1406A>C (p.Gln469Pro)
c.1256A>C (p.Gln419Pro)
c.1454A>C (p.Gln485Pro)
12g.114355684G>ACA386925134TBX5c.1405C>T (p.Gln469Ter)
c.1255C>T (p.Gln419Ter)
c.1453C>T (p.Gln485Ter)
12g.114355684G>CCA386925135TBX5c.1405C>G (p.Gln469Glu)
c.1255C>G (p.Gln419Glu)
c.1453C>G (p.Gln485Glu)
12g.114355684G>TCA386925133TBX5c.1405C>A (p.Gln469Lys)
c.1255C>A (p.Gln419Lys)
c.1453C>A (p.Gln485Lys)
12g.114355684_114355686delinsGCCCA2064633511TBX5c.1403_1405delinsGGC (p.Arg468=)
c.1253_1255delinsGGC (p.Arg418=)
c.1451_1453delinsGGC (p.Arg484=)
12g.114355685C>ACA386925136TBX5c.1404G>T (p.Arg468Ser)
c.1254G>T (p.Arg418Ser)
c.1452G>T (p.Arg484Ser)
12g.114355685C>GCA386925137TBX5c.1404G>C (p.Arg468Ser)
c.1254G>C (p.Arg418Ser)
c.1452G>C (p.Arg484Ser)
12g.114355685C>TCA482139112TBX5c.1404G>A (p.Arg468=)
c.1254G>A (p.Arg418=)
c.1452G>A (p.Arg484=)
12g.114355685_114355686delCA2064633512TBX5c.1403_1404del (p.Arg468ThrfsTer18)
c.1253_1254del (p.Arg418ThrfsTer18)
c.1451_1452del (p.Arg484ThrfsTer18)
 dbSNP
12g.114355686C>ACA386925138TBX5c.1403G>T (p.Arg468Met)
c.1253G>T (p.Arg418Met)
c.1451G>T (p.Arg484Met)
12g.114355686C>GCA386925139TBX5c.1403G>C (p.Arg468Thr)
c.1253G>C (p.Arg418Thr)
c.1451G>C (p.Arg484Thr)
12g.114355686C>TCA386925140TBX5c.1403G>A (p.Arg468Lys)
c.1253G>A (p.Arg418Lys)
c.1451G>A (p.Arg484Lys)
12g.114355687T>ACA386925141TBX5c.1402A>T (p.Arg468Trp)
c.1252A>T (p.Arg418Trp)
c.1450A>T (p.Arg484Trp)
12g.114355687T>CCA386925142TBX5c.1402A>G (p.Arg468Gly)
c.1252A>G (p.Arg418Gly)
c.1450A>G (p.Arg484Gly)
12g.114355687T>GCA482139113TBX5c.1402A>C (p.Arg468=)
c.1252A>C (p.Arg418=)
c.1450A>C (p.Arg484=)
 dbSNP
12g.114355687T=CA2064633513TBX5c.1402A= (p.Arg468=)
c.1252A= (p.Arg418=)
c.1450A= (p.Arg484=)
12g.114355688G>ACA482139114TBX5c.1401C>T (p.Val467=)
c.1251C>T (p.Val417=)
c.1449C>T (p.Val483=)
12g.114355688G>CCA482139115TBX5c.1401C>G (p.Val467=)
c.1251C>G (p.Val417=)
c.1449C>G (p.Val483=)
12g.114355688G>TCA482139116TBX5c.1401C>A (p.Val467=)
c.1251C>A (p.Val417=)
c.1449C>A (p.Val483=)
 gnomAD v4
12g.114355689A=CA2064633514TBX5c.1400T= (p.Val467=)
c.1250T= (p.Val417=)
c.1448T= (p.Val483=)
12g.114355689A>CCA386925143TBX5c.1400T>G (p.Val467Gly)
c.1250T>G (p.Val417Gly)
c.1448T>G (p.Val483Gly)
12g.114355689A>GCA6809345TBX5c.1400T>C (p.Val467Ala)
c.1250T>C (p.Val417Ala)
c.1448T>C (p.Val483Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched