Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.114385462A=CA2064648067TBX5c.755+14T= (n.755+14T=)
c.605+14T= (n.605+14T=)
c.803+14T= (n.803+14T=)
12g.114385462A>TCA2621090294TBX5c.755+14T>A (n.755+14T>A)
c.605+14T>A (n.605+14T>A)
c.803+14T>A (n.803+14T>A)
 gnomAD v4
12g.114385463dupCA607644658TBX5c.755+13dup (n.755+13dup)
c.605+13dup (n.605+13dup)
c.803+13dup (n.803+13dup)
 dbSNP gnomAD v2
12g.114385465delCA2621090297TBX5c.755+12del (n.755+12del)
c.605+12del (n.605+12del)
c.803+12del (n.803+12del)
 gnomAD v4
12g.114385465C=CA2064648073TBX5c.755+11G= (n.755+11G=)
c.605+11G= (n.605+11G=)
c.803+11G= (n.803+11G=)
12g.114385465C>TCA952048798TBX5c.755+11G>A (n.755+11G>A)
c.605+11G>A (n.605+11G>A)
c.803+11G>A (n.803+11G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.114385467C=CA2064648076TBX5c.755+9G= (n.755+9G=)
c.605+9G= (n.605+9G=)
c.803+9G= (n.803+9G=)
12g.114385467C>TCA607644659TBX5c.755+9G>A (n.755+9G>A)
c.605+9G>A (n.605+9G>A)
c.803+9G>A (n.803+9G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114385468T>CCA244121987TBX5c.755+8A>G (n.755+8A>G)
c.605+8A>G (n.605+8A>G)
c.803+8A>G (n.803+8A>G)
 dbSNP gnomAD v4
12g.114385468T=CA2064648079TBX5c.755+8A= (n.755+8A=)
c.605+8A= (n.605+8A=)
c.803+8A= (n.803+8A=)
12g.114385470T>CCA2064648084TBX5c.755+6A>G (n.755+6A>G)
c.605+6A>G (n.605+6A>G)
c.803+6A>G (n.803+6A>G)
 dbSNP
12g.114385470T=CA2064648083TBX5c.755+6A= (n.755+6A=)
c.605+6A= (n.605+6A=)
c.803+6A= (n.803+6A=)
12g.114385471C=CA2064648086TBX5c.755+5G= (n.755+5G=)
c.605+5G= (n.605+5G=)
c.803+5G= (n.803+5G=)
12g.114385471C>TCA6809519TBX5c.755+5G>A (n.755+5G>A)
c.605+5G>A (n.605+5G>A)
c.803+5G>A (n.803+5G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.114385472C=CA2064648089TBX5c.755+4G= (n.755+4G=)
c.605+4G= (n.605+4G=)
c.803+4G= (n.803+4G=)
12g.114385472C>TCA244121993TBX5c.755+4G>A (n.755+4G>A)
c.605+4G>A (n.605+4G>A)
c.803+4G>A (n.803+4G>A)
 ClinVar dbSNP gnomAD v4
12g.114385473T>CCA2575305838TBX5c.755+3A>G (n.755+3A>G)
c.605+3A>G (n.605+3A>G)
c.803+3A>G (n.803+3A>G)
12g.114385474A=CA2064648102TBX5c.755+2T= (n.755+2T=)
c.605+2T= (n.605+2T=)
c.803+2T= (n.803+2T=)
12g.114385474A>CCA386859478TBX5c.755+2T>G (n.755+2T>G)
c.605+2T>G (n.605+2T>G)
c.803+2T>G (n.803+2T>G)
12g.114385474A>GCA386859481TBX5c.755+2T>C (n.755+2T>C)
c.605+2T>C (n.605+2T>C)
c.803+2T>C (n.803+2T>C)
 ClinVar dbSNP
12g.114385474A>TCA386859479TBX5c.755+2T>A (n.755+2T>A)
c.605+2T>A (n.605+2T>A)
c.803+2T>A (n.803+2T>A)
12g.114385475C>ACA386859483TBX5c.755+1G>T (n.755+1G>T)
c.605+1G>T (n.605+1G>T)
c.803+1G>T (n.803+1G>T)
 ClinVar dbSNP
12g.114385475C>GCA386859485TBX5c.755+1G>C (n.755+1G>C)
c.605+1G>C (n.605+1G>C)
c.803+1G>C (n.803+1G>C)
 gnomAD v4
12g.114385475C>TCA386859486TBX5c.755+1G>A (n.755+1G>A)
c.605+1G>A (n.605+1G>A)
c.803+1G>A (n.803+1G>A)
 ClinVar
12g.114385476C>ACA16613669TBX5c.755G>T (p.Ser252Ile)
c.605G>T (p.Ser202Ile)
c.803G>T (p.Ser268Ile)
 ClinVar dbSNP
12g.114385476C=CA2064648121TBX5c.755G= (p.Ser252=)
c.605G= (p.Ser202=)
c.803G= (p.Ser268=)
12g.114385476C>GCA10588541TBX5c.755G>C (p.Ser252Thr)
c.605G>C (p.Ser202Thr)
c.803G>C (p.Ser268Thr)
 ClinVar dbSNP
12g.114385476C>TCA323524TBX5c.755G>A (p.Ser252Asn)
c.605G>A (p.Ser202Asn)
c.803G>A (p.Ser268Asn)
 ClinVar dbSNP
12g.114385477T>ACA386859491TBX5c.754A>T (p.Ser252Cys)
c.604A>T (p.Ser202Cys)
c.802A>T (p.Ser268Cys)
 gnomAD v4
12g.114385477T>CCA386859493TBX5c.754A>G (p.Ser252Gly)
c.604A>G (p.Ser202Gly)
c.802A>G (p.Ser268Gly)
12g.114385477T>GCA386859494TBX5c.754A>C (p.Ser252Arg)
c.604A>C (p.Ser202Arg)
c.802A>C (p.Ser268Arg)
12g.114385478T>ACA386859496TBX5c.753A>T (p.Gln251His)
c.603A>T (p.Gln201His)
c.801A>T (p.Gln267His)
12g.114385478T>CCA481920006TBX5c.753A>G (p.Gln251=)
c.603A>G (p.Gln201=)
c.801A>G (p.Gln267=)
 ClinVar dbSNP gnomAD v4
12g.114385478T>GCA386859498TBX5c.753A>C (p.Gln251His)
c.603A>C (p.Gln201His)
c.801A>C (p.Gln267His)
12g.114385478T=CA2064648136TBX5c.753A= (p.Gln251=)
c.603A= (p.Gln201=)
c.801A= (p.Gln267=)
12g.114385479T>ACA386859500TBX5c.752A>T (p.Gln251Leu)
c.602A>T (p.Gln201Leu)
c.800A>T (p.Gln267Leu)
12g.114385479T>CCA386859503TBX5c.752A>G (p.Gln251Arg)
c.602A>G (p.Gln201Arg)
c.800A>G (p.Gln267Arg)
12g.114385479T>GCA386859501TBX5c.752A>C (p.Gln251Pro)
c.602A>C (p.Gln201Pro)
c.800A>C (p.Gln267Pro)
12g.114385480G>ACA386859506TBX5c.751C>T (p.Gln251Ter)
c.601C>T (p.Gln201Ter)
c.799C>T (p.Gln267Ter)
12g.114385480G>CCA386859509TBX5c.751C>G (p.Gln251Glu)
c.601C>G (p.Gln201Glu)
c.799C>G (p.Gln267Glu)
12g.114385480G>TCA386859507TBX5c.751C>A (p.Gln251Lys)
c.601C>A (p.Gln201Lys)
c.799C>A (p.Gln267Lys)
12g.114385481C>ACA386859511TBX5c.750G>T (p.Met250Ile)
c.600G>T (p.Met200Ile)
c.798G>T (p.Met266Ile)
 COSMIC COSMIC
12g.114385481C>GCA386859513TBX5c.750G>C (p.Met250Ile)
c.600G>C (p.Met200Ile)
c.798G>C (p.Met266Ile)
12g.114385481C>TCA386859514TBX5c.750G>A (p.Met250Ile)
c.600G>A (p.Met200Ile)
c.798G>A (p.Met266Ile)
12g.114385482A=CA2064648140TBX5c.749T= (p.Met250=)
c.599T= (p.Met200=)
c.797T= (p.Met266=)
12g.114385482A>CCA386859516TBX5c.749T>G (p.Met250Arg)
c.599T>G (p.Met200Arg)
c.797T>G (p.Met266Arg)
12g.114385482A>GCA386859518TBX5c.749T>C (p.Met250Thr)
c.599T>C (p.Met200Thr)
c.797T>C (p.Met266Thr)
 dbSNP gnomAD v4
12g.114385482A>TCA386859520TBX5c.749T>A (p.Met250Lys)
c.599T>A (p.Met200Lys)
c.797T>A (p.Met266Lys)
12g.114385483T>ACA386859521TBX5c.748A>T (p.Met250Leu)
c.598A>T (p.Met200Leu)
c.796A>T (p.Met266Leu)
12g.114385483T>CCA386859523TBX5c.748A>G (p.Met250Val)
c.598A>G (p.Met200Val)
c.796A>G (p.Met266Val)
 gnomAD v4
12g.114385483T>GCA386859525TBX5c.748A>C (p.Met250Leu)
c.598A>C (p.Met200Leu)
c.796A>C (p.Met266Leu)
12g.114385484T>ACA386859527TBX5c.747A>T (p.Arg249Ser)
c.597A>T (p.Arg199Ser)
c.795A>T (p.Arg265Ser)
12g.114385484T>CCA6809520TBX5c.747A>G (p.Arg249=)
c.597A>G (p.Arg199=)
c.795A>G (p.Arg265=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114385484T>GCA386859526TBX5c.747A>C (p.Arg249Ser)
c.597A>C (p.Arg199Ser)
c.795A>C (p.Arg265Ser)
12g.114385484T=CA2064648144TBX5c.747A= (p.Arg249=)
c.597A= (p.Arg199=)
c.795A= (p.Arg265=)
12g.114385485C>ACA386859529TBX5c.746G>T (p.Arg249Ile)
c.596G>T (p.Arg199Ile)
c.794G>T (p.Arg265Ile)
 COSMIC COSMIC
12g.114385485C>GCA386859530TBX5c.746G>C (p.Arg249Thr)
c.596G>C (p.Arg199Thr)
c.794G>C (p.Arg265Thr)
 gnomAD v4
12g.114385485C>TCA386859531TBX5c.746G>A (p.Arg249Lys)
c.596G>A (p.Arg199Lys)
c.794G>A (p.Arg265Lys)
12g.114385486T>ACA386859534TBX5c.745A>T (p.Arg249Ter)
c.595A>T (p.Arg199Ter)
c.793A>T (p.Arg265Ter)
12g.114385486T>CCA386859536TBX5c.745A>G (p.Arg249Gly)
c.595A>G (p.Arg199Gly)
c.793A>G (p.Arg265Gly)
 dbSNP gnomAD v3 gnomAD v4
12g.114385486T>GCA481920013TBX5c.745A>C (p.Arg249=)
c.595A>C (p.Arg199=)
c.793A>C (p.Arg265=)
12g.114385486T=CA2064648146TBX5c.745A= (p.Arg249=)
c.595A= (p.Arg199=)
c.793A= (p.Arg265=)
12g.114385487T>ACA481920014TBX5c.744A>T (p.Ser248=)
c.594A>T (p.Ser198=)
c.792A>T (p.Ser264=)
12g.114385487T>CCA481920015TBX5c.744A>G (p.Ser248=)
c.594A>G (p.Ser198=)
c.792A>G (p.Ser264=)
12g.114385487T>GCA481920016TBX5c.744A>C (p.Ser248=)
c.594A>C (p.Ser198=)
c.792A>C (p.Ser264=)
12g.114385488G>ACA386859538TBX5c.743C>T (p.Ser248Leu)
c.593C>T (p.Ser198Leu)
c.791C>T (p.Ser264Leu)
12g.114385488G>CCA386859539TBX5c.743C>G (p.Ser248Ter)
c.593C>G (p.Ser198Ter)
c.791C>G (p.Ser264Ter)
12g.114385488G>TCA386859541TBX5c.743C>A (p.Ser248Ter)
c.593C>A (p.Ser198Ter)
c.791C>A (p.Ser264Ter)
12g.114385489A>CCA386859542TBX5c.742T>G (p.Ser248Ala)
c.592T>G (p.Ser198Ala)
c.790T>G (p.Ser264Ala)
12g.114385489A>GCA386859543TBX5c.742T>C (p.Ser248Pro)
c.592T>C (p.Ser198Pro)
c.790T>C (p.Ser264Pro)
12g.114385489A>TCA386859544TBX5c.742T>A (p.Ser248Thr)
c.592T>A (p.Ser198Thr)
c.790T>A (p.Ser264Thr)
12g.114385490C>ACA386859547TBX5c.741G>T (p.Met247Ile)
c.591G>T (p.Met197Ile)
c.789G>T (p.Met263Ile)
12g.114385490C>GCA386859548TBX5c.741G>C (p.Met247Ile)
c.591G>C (p.Met197Ile)
c.789G>C (p.Met263Ile)
12g.114385490C>TCA386859545TBX5c.741G>A (p.Met247Ile)
c.591G>A (p.Met197Ile)
c.789G>A (p.Met263Ile)
12g.114385491A>CCA386859549TBX5c.740T>G (p.Met247Arg)
c.590T>G (p.Met197Arg)
c.788T>G (p.Met263Arg)
12g.114385491A>GCA386859551TBX5c.740T>C (p.Met247Thr)
c.590T>C (p.Met197Thr)
c.788T>C (p.Met263Thr)
12g.114385491A>TCA386859553TBX5c.740T>A (p.Met247Lys)
c.590T>A (p.Met197Lys)
c.788T>A (p.Met263Lys)
12g.114385492T>ACA386859555TBX5c.739A>T (p.Met247Leu)
c.589A>T (p.Met197Leu)
c.787A>T (p.Met263Leu)
12g.114385492T>CCA386859556TBX5c.739A>G (p.Met247Val)
c.589A>G (p.Met197Val)
c.787A>G (p.Met263Val)
12g.114385492T>GCA386859558TBX5c.739A>C (p.Met247Leu)
c.589A>C (p.Met197Leu)
c.787A>C (p.Met263Leu)
12g.114385493T>ACA386859560TBX5c.738A>T (p.Arg246Ser)
c.588A>T (p.Arg196Ser)
c.786A>T (p.Arg262Ser)
12g.114385493T>CCA481920022TBX5c.738A>G (p.Arg246=)
c.588A>G (p.Arg196=)
c.786A>G (p.Arg262=)
12g.114385493T>GCA386859561TBX5c.738A>C (p.Arg246Ser)
c.588A>C (p.Arg196Ser)
c.786A>C (p.Arg262Ser)
12g.114385494C>ACA386859563TBX5c.737G>T (p.Arg246Ile)
c.587G>T (p.Arg196Ile)
c.785G>T (p.Arg262Ile)
 COSMIC COSMIC
12g.114385494C>GCA386859565TBX5c.737G>C (p.Arg246Thr)
c.587G>C (p.Arg196Thr)
c.785G>C (p.Arg262Thr)
 gnomAD v4
12g.114385494C>TCA386859567TBX5c.737G>A (p.Arg246Lys)
c.587G>A (p.Arg196Lys)
c.785G>A (p.Arg262Lys)
 gnomAD v4
12g.114385495T>ACA386859570TBX5c.736A>T (p.Arg246Ter)
c.586A>T (p.Arg196Ter)
c.784A>T (p.Arg262Ter)
12g.114385495T>CCA6809522TBX5c.736A>G (p.Arg246Gly)
c.586A>G (p.Arg196Gly)
c.784A>G (p.Arg262Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.114385495T>GCA6809521TBX5c.736A>C (p.Arg246=)
c.586A>C (p.Arg196=)
c.784A>C (p.Arg262=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114385495T=CA2064648156TBX5c.736A= (p.Arg246=)
c.586A= (p.Arg196=)
c.784A= (p.Arg262=)
12g.114385496G>ACA481920026TBX5c.735C>T (p.His245=)
c.585C>T (p.His195=)
c.783C>T (p.His261=)
12g.114385496G>CCA386859572TBX5c.735C>G (p.His245Gln)
c.585C>G (p.His195Gln)
c.783C>G (p.His261Gln)
12g.114385496G>TCA386859573TBX5c.735C>A (p.His245Gln)
c.585C>A (p.His195Gln)
c.783C>A (p.His261Gln)
12g.114385497T>ACA386859575TBX5c.734A>T (p.His245Leu)
c.584A>T (p.His195Leu)
c.782A>T (p.His261Leu)
12g.114385497T>CCA386859577TBX5c.734A>G (p.His245Arg)
c.584A>G (p.His195Arg)
c.782A>G (p.His261Arg)
12g.114385497T>GCA386859579TBX5c.734A>C (p.His245Pro)
c.584A>C (p.His195Pro)
c.782A>C (p.His261Pro)
12g.114385498G>ACA386859584TBX5c.733C>T (p.His245Tyr)
c.583C>T (p.His195Tyr)
c.781C>T (p.His261Tyr)
 gnomAD v4
12g.114385498G>CCA386859580TBX5c.733C>G (p.His245Asp)
c.583C>G (p.His195Asp)
c.781C>G (p.His261Asp)
12g.114385498G>TCA386859582TBX5c.733C>A (p.His245Asn)
c.583C>A (p.His195Asn)
c.781C>A (p.His261Asn)
12g.114385499C>ACA6809523TBX5c.732G>T (p.Leu244=)
c.582G>T (p.Leu194=)
c.780G>T (p.Leu260=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114385499C=CA2064648166TBX5c.732G= (p.Leu244=)
c.582G= (p.Leu194=)
c.780G= (p.Leu260=)
12g.114385499C>GCA481920031TBX5c.732G>C (p.Leu244=)
c.582G>C (p.Leu194=)
c.780G>C (p.Leu260=)
 dbSNP gnomAD v4
12g.114385499C>TCA481920034TBX5c.732G>A (p.Leu244=)
c.582G>A (p.Leu194=)
c.780G>A (p.Leu260=)
12g.114385500A=CA2064648179TBX5c.731T= (p.Leu244=)
c.581T= (p.Leu194=)
c.779T= (p.Leu260=)
12g.114385500A>CCA386859587TBX5c.731T>G (p.Leu244Arg)
c.581T>G (p.Leu194Arg)
c.779T>G (p.Leu260Arg)
12g.114385500A>GCA244122010TBX5c.731T>C (p.Leu244Pro)
c.581T>C (p.Leu194Pro)
c.779T>C (p.Leu260Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.114385500A>TCA386859589TBX5c.731T>A (p.Leu244Gln)
c.581T>A (p.Leu194Gln)
c.779T>A (p.Leu260Gln)
12g.114385501G>ACA481920036TBX5c.730C>T (p.Leu244=)
c.580C>T (p.Leu194=)
c.778C>T (p.Leu260=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.114385501G>CCA386859590TBX5c.730C>G (p.Leu244Val)
c.580C>G (p.Leu194Val)
c.778C>G (p.Leu260Val)
12g.114385501G=CA2064648183TBX5c.730C= (p.Leu244=)
c.580C= (p.Leu194=)
c.778C= (p.Leu260=)
12g.114385501G>TCA386859592TBX5c.730C>A (p.Leu244Met)
c.580C>A (p.Leu194Met)
c.778C>A (p.Leu260Met)
12g.114385501_114385505delCA2695217397TBX5c.726_730del (p.Met242IlefsTer10)
c.576_580del (p.Met192IlefsTer10)
c.774_778del (p.Met258IlefsTer10)
12g.114385502C>ACA6809524TBX5c.729G>T (p.Glu243Asp)
c.579G>T (p.Glu193Asp)
c.777G>T (p.Glu259Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114385502C=CA2064648197TBX5c.729G= (p.Glu243=)
c.579G= (p.Glu193=)
c.777G= (p.Glu259=)
12g.114385502C>GCA386859593TBX5c.729G>C (p.Glu243Asp)
c.579G>C (p.Glu193Asp)
c.777G>C (p.Glu259Asp)
12g.114385502C>TCA481920038TBX5c.729G>A (p.Glu243=)
c.579G>A (p.Glu193=)
c.777G>A (p.Glu259=)
12g.114385503_114385504delCA913190893TBX5c.728_729del (p.Glu243AlafsTer10)
c.578_579del (p.Glu193AlafsTer10)
c.776_777del (p.Glu259AlafsTer10)
 ClinVar
12g.114385503T>ACA386859595TBX5c.728A>T (p.Glu243Val)
c.578A>T (p.Glu193Val)
c.776A>T (p.Glu259Val)
12g.114385503T>CCA386859598TBX5c.728A>G (p.Glu243Gly)
c.578A>G (p.Glu193Gly)
c.776A>G (p.Glu259Gly)
12g.114385503T>GCA386859596TBX5c.728A>C (p.Glu243Ala)
c.578A>C (p.Glu193Ala)
c.776A>C (p.Glu259Ala)
12g.114385503_114385504delinsTCCA2064648208TBX5c.727_728delinsGA (p.Glu243=)
c.577_578delinsGA (p.Glu193=)
c.775_776delinsGA (p.Glu259=)
12g.114385504C>ACA386859600TBX5c.727G>T (p.Glu243Ter)
c.577G>T (p.Glu193Ter)
c.775G>T (p.Glu259Ter)
12g.114385504C=CA2064648212TBX5c.727G= (p.Glu243=)
c.577G= (p.Glu193=)
c.775G= (p.Glu259=)
12g.114385504C>GCA386859603TBX5c.727G>C (p.Glu243Gln)
c.577G>C (p.Glu193Gln)
c.775G>C (p.Glu259Gln)
12g.114385504C>TCA6809525TBX5c.727G>A (p.Glu243Lys)
c.577G>A (p.Glu193Lys)
c.775G>A (p.Glu259Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.114385505delCA916082352TBX5c.727del (p.Glu243SerfsTer21)
c.577del (p.Glu193SerfsTer21)
c.775del (p.Glu259SerfsTer21)
 ClinVar dbSNP
12g.114385505C>ACA386859605TBX5c.726G>T (p.Met242Ile)
c.576G>T (p.Met192Ile)
c.774G>T (p.Met258Ile)
12g.114385505C>GCA386859607TBX5c.726G>C (p.Met242Ile)
c.576G>C (p.Met192Ile)
c.774G>C (p.Met258Ile)
12g.114385505C>TCA386859608TBX5c.726G>A (p.Met242Ile)
c.576G>A (p.Met192Ile)
c.774G>A (p.Met258Ile)
12g.114385506A=CA2064648217TBX5c.725T= (p.Met242=)
c.575T= (p.Met192=)
c.773T= (p.Met258=)
12g.114385506A>CCA386859610TBX5c.725T>G (p.Met242Arg)
c.575T>G (p.Met192Arg)
c.773T>G (p.Met258Arg)
12g.114385506A>GCA386859611TBX5c.725T>C (p.Met242Thr)
c.575T>C (p.Met192Thr)
c.773T>C (p.Met258Thr)
 dbSNP
12g.114385506A>TCA386859613TBX5c.725T>A (p.Met242Lys)
c.575T>A (p.Met192Lys)
c.773T>A (p.Met258Lys)
12g.114385507T>ACA386859615TBX5c.724A>T (p.Met242Leu)
c.574A>T (p.Met192Leu)
c.772A>T (p.Met258Leu)
12g.114385507T>CCA6809526TBX5c.724A>G (p.Met242Val)
c.574A>G (p.Met192Val)
c.772A>G (p.Met258Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.114385507T>GCA386859617TBX5c.724A>C (p.Met242Leu)
c.574A>C (p.Met192Leu)
c.772A>C (p.Met258Leu)
12g.114385507T=CA2064648222TBX5c.724A= (p.Met242=)
c.574A= (p.Met192=)
c.772A= (p.Met258=)
12g.114385508G>ACA6809527TBX5c.723C>T (p.Asp241=)
c.573C>T (p.Asp191=)
c.771C>T (p.Asp257=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114385508G>CCA386859619TBX5c.723C>G (p.Asp241Glu)
c.573C>G (p.Asp191Glu)
c.771C>G (p.Asp257Glu)
12g.114385508G=CA2064648226TBX5c.723C= (p.Asp241=)
c.573C= (p.Asp191=)
c.771C= (p.Asp257=)
12g.114385508G>TCA386859621TBX5c.723C>A (p.Asp241Glu)
c.573C>A (p.Asp191Glu)
c.771C>A (p.Asp257Glu)
12g.114385509T>ACA386859626TBX5c.722A>T (p.Asp241Val)
c.572A>T (p.Asp191Val)
c.770A>T (p.Asp257Val)
12g.114385509T>CCA386859623TBX5c.722A>G (p.Asp241Gly)
c.572A>G (p.Asp191Gly)
c.770A>G (p.Asp257Gly)
12g.114385509T>GCA386859624TBX5c.722A>C (p.Asp241Ala)
c.572A>C (p.Asp191Ala)
c.770A>C (p.Asp257Ala)
12g.114385510C>ACA386859628TBX5c.721G>T (p.Asp241Tyr)
c.571G>T (p.Asp191Tyr)
c.769G>T (p.Asp257Tyr)
12g.114385510C>GCA386859629TBX5c.721G>C (p.Asp241His)
c.571G>C (p.Asp191His)
c.769G>C (p.Asp257His)
12g.114385510C>TCA386859631TBX5c.721G>A (p.Asp241Asn)
c.571G>A (p.Asp191Asn)
c.769G>A (p.Asp257Asn)
 gnomAD v4
12g.114385511A=CA2064648230TBX5c.720T= (p.Asp240=)
c.570T= (p.Asp190=)
c.768T= (p.Asp256=)
12g.114385511A>CCA386859633TBX5c.720T>G (p.Asp240Glu)
c.570T>G (p.Asp190Glu)
c.768T>G (p.Asp256Glu)
12g.114385511A>GCA481920045TBX5c.720T>C (p.Asp240=)
c.570T>C (p.Asp190=)
c.768T>C (p.Asp256=)
 dbSNP gnomAD v2 gnomAD v4
12g.114385511A>TCA386859635TBX5c.720T>A (p.Asp240Glu)
c.570T>A (p.Asp190Glu)
c.768T>A (p.Asp256Glu)
12g.114385512T>ACA386859637TBX5c.719A>T (p.Asp240Val)
c.569A>T (p.Asp190Val)
c.767A>T (p.Asp256Val)
12g.114385512T>CCA386859639TBX5c.719A>G (p.Asp240Gly)
c.569A>G (p.Asp190Gly)
c.767A>G (p.Asp256Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.114385512T>GCA386859641TBX5c.719A>C (p.Asp240Ala)
c.569A>C (p.Asp190Ala)
c.767A>C (p.Asp256Ala)
12g.114385512T=CA2064648235TBX5c.719A= (p.Asp240=)
c.569A= (p.Asp190=)
c.767A= (p.Asp256=)
12g.114385513C>ACA386859642TBX5c.718G>T (p.Asp240Tyr)
c.568G>T (p.Asp190Tyr)
c.766G>T (p.Asp256Tyr)
 COSMIC COSMIC
12g.114385513C>GCA386859644TBX5c.718G>C (p.Asp240His)
c.568G>C (p.Asp190His)
c.766G>C (p.Asp256His)
12g.114385513C>TCA386859646TBX5c.718G>A (p.Asp240Asn)
c.568G>A (p.Asp190Asn)
c.766G>A (p.Asp256Asn)
 COSMIC
12g.114385514A=CA2064648238TBX5c.717T= (p.Ser239=)
c.567T= (p.Ser189=)
c.765T= (p.Ser255=)
12g.114385514A>CCA386859648TBX5c.717T>G (p.Ser239Arg)
c.567T>G (p.Ser189Arg)
c.765T>G (p.Ser255Arg)
12g.114385514A>GCA481920050TBX5c.717T>C (p.Ser239=)
c.567T>C (p.Ser189=)
c.765T>C (p.Ser255=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114385514A>TCA386859650TBX5c.717T>A (p.Ser239Arg)
c.567T>A (p.Ser189Arg)
c.765T>A (p.Ser255Arg)
12g.114385515C>ACA386859652TBX5c.716G>T (p.Ser239Ile)
c.566G>T (p.Ser189Ile)
c.764G>T (p.Ser255Ile)
12g.114385515C>GCA386859653TBX5c.716G>C (p.Ser239Thr)
c.566G>C (p.Ser189Thr)
c.764G>C (p.Ser255Thr)
12g.114385515C>TCA386859655TBX5c.716G>A (p.Ser239Asn)
c.566G>A (p.Ser189Asn)
c.764G>A (p.Ser255Asn)
 gnomAD v4
12g.114385516T>ACA386859657TBX5c.715A>T (p.Ser239Cys)
c.565A>T (p.Ser189Cys)
c.763A>T (p.Ser255Cys)
12g.114385516T>CCA6809528TBX5c.715A>G (p.Ser239Gly)
c.565A>G (p.Ser189Gly)
c.763A>G (p.Ser255Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114385516T>GCA386859659TBX5c.715A>C (p.Ser239Arg)
c.565A>C (p.Ser189Arg)
c.763A>C (p.Ser255Arg)
12g.114385516T=CA2064648243TBX5c.715A= (p.Ser239=)
c.565A= (p.Ser189=)
c.763A= (p.Ser255=)
12g.114385517G>ACA6809529TBX5c.714C>T (p.Gly238=)
c.564C>T (p.Gly188=)
c.762C>T (p.Gly254=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114385517G>CCA481920051TBX5c.714C>G (p.Gly238=)
c.564C>G (p.Gly188=)
c.762C>G (p.Gly254=)
12g.114385517G=CA2064648246TBX5c.714C= (p.Gly238=)
c.564C= (p.Gly188=)
c.762C= (p.Gly254=)
12g.114385517G>TCA481920052TBX5c.714C>A (p.Gly238=)
c.564C>A (p.Gly188=)
c.762C>A (p.Gly254=)
12g.114385518C>ACA386859662TBX5c.713G>T (p.Gly238Val)
c.563G>T (p.Gly188Val)
c.761G>T (p.Gly254Val)
12g.114385518C>GCA386859665TBX5c.713G>C (p.Gly238Ala)
c.563G>C (p.Gly188Ala)
c.761G>C (p.Gly254Ala)
12g.114385518C>TCA386859664TBX5c.713G>A (p.Gly238Asp)
c.563G>A (p.Gly188Asp)
c.761G>A (p.Gly254Asp)
12g.114385521dupCA913190894TBX5c.713dup (p.Ser239GlnfsTer2)
c.563dup (p.Ser189GlnfsTer2)
c.761dup (p.Ser255GlnfsTer2)
 ClinVar
12g.114385519C>ACA386859667TBX5c.712G>T (p.Gly238Cys)
c.562G>T (p.Gly188Cys)
c.760G>T (p.Gly254Cys)
12g.114385519C=CA2064648256TBX5c.712G= (p.Gly238=)
c.562G= (p.Gly188=)
c.760G= (p.Gly254=)
12g.114385519C>GCA386859669TBX5c.712G>C (p.Gly238Arg)
c.562G>C (p.Gly188Arg)
c.760G>C (p.Gly254Arg)
12g.114385519C>TCA386859671TBX5c.712G>A (p.Gly238Ser)
c.562G>A (p.Gly188Ser)
c.760G>A (p.Gly254Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.114385520C>ACA481920053TBX5c.711G>T (p.Arg237=)
c.561G>T (p.Arg187=)
c.759G>T (p.Arg253=)
12g.114385520C=CA2064648263TBX5c.711G= (p.Arg237=)
c.561G= (p.Arg187=)
c.759G= (p.Arg253=)
12g.114385520C>GCA481920054TBX5c.711G>C (p.Arg237=)
c.561G>C (p.Arg187=)
c.759G>C (p.Arg253=)
12g.114385520C>TCA6809530TBX5c.711G>A (p.Arg237=)
c.561G>A (p.Arg187=)
c.759G>A (p.Arg253=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.114385521C>ACA386859674TBX5c.710G>T (p.Arg237Leu)
c.560G>T (p.Arg187Leu)
c.758G>T (p.Arg253Leu)
12g.114385521C=CA2064648280TBX5c.710G= (p.Arg237=)
c.560G= (p.Arg187=)
c.758G= (p.Arg253=)
12g.114385521C>GCA16042869TBX5c.710G>C (p.Arg237Pro)
c.560G>C (p.Arg187Pro)
c.758G>C (p.Arg253Pro)
 ClinVar dbSNP
12g.114385521C>TCA254298TBX5c.710G>A (p.Arg237Gln)
c.560G>A (p.Arg187Gln)
c.758G>A (p.Arg253Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114385522G>ACA163404TBX5c.709C>T (p.Arg237Trp)
c.559C>T (p.Arg187Trp)
c.757C>T (p.Arg253Trp)
 ClinVar dbSNP
12g.114385522G>CCA386859678TBX5c.709C>G (p.Arg237Gly)
c.559C>G (p.Arg187Gly)
c.757C>G (p.Arg253Gly)
12g.114385522G=CA2064648298TBX5c.709C= (p.Arg237=)
c.559C= (p.Arg187=)
c.757C= (p.Arg253=)
12g.114385522G>TCA481920055TBX5c.709C>A (p.Arg237=)
c.559C>A (p.Arg187=)
c.757C>A (p.Arg253=)
12g.114385523A>CCA386859680TBX5c.708T>G (p.Phe236Leu)
c.558T>G (p.Phe186Leu)
c.756T>G (p.Phe252Leu)
12g.114385523A>GCA481920056TBX5c.708T>C (p.Phe236=)
c.558T>C (p.Phe186=)
c.756T>C (p.Phe252=)
12g.114385523A>TCA386859681TBX5c.708T>A (p.Phe236Leu)
c.558T>A (p.Phe186Leu)
c.756T>A (p.Phe252Leu)
12g.114385524A>CCA386859683TBX5c.707T>G (p.Phe236Cys)
c.557T>G (p.Phe186Cys)
c.755T>G (p.Phe252Cys)
12g.114385524A>GCA386859684TBX5c.707T>C (p.Phe236Ser)
c.557T>C (p.Phe186Ser)
c.755T>C (p.Phe252Ser)
12g.114385524A>TCA386859686TBX5c.707T>A (p.Phe236Tyr)
c.557T>A (p.Phe186Tyr)
c.755T>A (p.Phe252Tyr)
12g.114385525A>CCA386859687TBX5c.706T>G (p.Phe236Val)
c.556T>G (p.Phe186Val)
c.754T>G (p.Phe252Val)
12g.114385525A>GCA386859689TBX5c.706T>C (p.Phe236Leu)
c.556T>C (p.Phe186Leu)
c.754T>C (p.Phe252Leu)
12g.114385525A>TCA386859691TBX5c.706T>A (p.Phe236Ile)
c.556T>A (p.Phe186Ile)
c.754T>A (p.Phe252Ile)
12g.114385526T>ACA481920059TBX5c.705A>T (p.Gly235=)
c.555A>T (p.Gly185=)
c.753A>T (p.Gly251=)
12g.114385526T>CCA481920058TBX5c.705A>G (p.Gly235=)
c.555A>G (p.Gly185=)
c.753A>G (p.Gly251=)
12g.114385526T>GCA481920057TBX5c.705A>C (p.Gly235=)
c.555A>C (p.Gly185=)
c.753A>C (p.Gly251=)
12g.114385527C>ACA386859700TBX5c.704G>T (p.Gly235Val)
c.554G>T (p.Gly185Val)
c.752G>T (p.Gly251Val)
12g.114385527C=CA2064648311TBX5c.704G= (p.Gly235=)
c.554G= (p.Gly185=)
c.752G= (p.Gly251=)
12g.114385527C>GCA386859694TBX5c.704G>C (p.Gly235Ala)
c.554G>C (p.Gly185Ala)
c.752G>C (p.Gly251Ala)
12g.114385527C>TCA386859693TBX5c.704G>A (p.Gly235Glu)
c.554G>A (p.Gly185Glu)
c.752G>A (p.Gly251Glu)
 ClinVar dbSNP
12g.114385528C>ACA386859702TBX5c.703G>T (p.Gly235Ter)
c.553G>T (p.Gly185Ter)
c.751G>T (p.Gly251Ter)
 ClinVar dbSNP
12g.114385528C=CA2064648323TBX5c.703G= (p.Gly235=)
c.553G= (p.Gly185=)
c.751G= (p.Gly251=)
12g.114385528C>GCA386859706TBX5c.703G>C (p.Gly235Arg)
c.553G>C (p.Gly185Arg)
c.751G>C (p.Gly251Arg)
12g.114385528C>TCA386859704TBX5c.703G>A (p.Gly235Arg)
c.553G>A (p.Gly185Arg)
c.751G>A (p.Gly251Arg)
12g.114385529T>ACA386859708TBX5c.702A>T (p.Lys234Asn)
c.552A>T (p.Lys184Asn)
c.750A>T (p.Lys250Asn)
12g.114385529T>CCA481920060TBX5c.702A>G (p.Lys234=)
c.552A>G (p.Lys184=)
c.750A>G (p.Lys250=)
12g.114385529T>GCA386859709TBX5c.702A>C (p.Lys234Asn)
c.552A>C (p.Lys184Asn)
c.750A>C (p.Lys250Asn)
12g.114385530T>ACA386859712TBX5c.701A>T (p.Lys234Ile)
c.551A>T (p.Lys184Ile)
c.749A>T (p.Lys250Ile)
12g.114385530T>CCA386859714TBX5c.701A>G (p.Lys234Arg)
c.551A>G (p.Lys184Arg)
c.749A>G (p.Lys250Arg)
12g.114385530T>GCA386859715TBX5c.701A>C (p.Lys234Thr)
c.551A>C (p.Lys184Thr)
c.749A>C (p.Lys250Thr)
12g.114385531T>ACA386859718TBX5c.700A>T (p.Lys234Ter)
c.550A>T (p.Lys184Ter)
c.748A>T (p.Lys250Ter)
12g.114385531T>CCA386859719TBX5c.700A>G (p.Lys234Glu)
c.550A>G (p.Lys184Glu)
c.748A>G (p.Lys250Glu)
12g.114385531T>GCA386859721TBX5c.700A>C (p.Lys234Gln)
c.550A>C (p.Lys184Gln)
c.748A>C (p.Lys250Gln)
12g.114385532G>ACA481920061TBX5c.699C>T (p.Ala233=)
c.549C>T (p.Ala183=)
c.747C>T (p.Ala249=)
12g.114385532G>CCA481920063TBX5c.699C>G (p.Ala233=)
c.549C>G (p.Ala183=)
c.747C>G (p.Ala249=)
12g.114385532G>TCA481920062TBX5c.699C>A (p.Ala233=)
c.549C>A (p.Ala183=)
c.747C>A (p.Ala249=)
12g.114385533G>ACA386859722TBX5c.698C>T (p.Ala233Val)
c.548C>T (p.Ala183Val)
c.746C>T (p.Ala249Val)
 ClinVar dbSNP
12g.114385533G>CCA386859724TBX5c.698C>G (p.Ala233Gly)
c.548C>G (p.Ala183Gly)
c.746C>G (p.Ala249Gly)
12g.114385533G=CA2064648334TBX5c.698C= (p.Ala233=)
c.548C= (p.Ala183=)
c.746C= (p.Ala249=)
12g.114385533G>TCA386859726TBX5c.698C>A (p.Ala233Asp)
c.548C>A (p.Ala183Asp)
c.746C>A (p.Ala249Asp)
12g.114385534C>ACA386859730TBX5c.697G>T (p.Ala233Ser)
c.547G>T (p.Ala183Ser)
c.745G>T (p.Ala249Ser)
12g.114385534C=CA2064648340TBX5c.697G= (p.Ala233=)
c.547G= (p.Ala183=)
c.745G= (p.Ala249=)
12g.114385534C>GCA386859729TBX5c.697G>C (p.Ala233Pro)
c.547G>C (p.Ala183Pro)
c.745G>C (p.Ala249Pro)
 ClinVar dbSNP
12g.114385534C>TCA386859728TBX5c.697G>A (p.Ala233Thr)
c.547G>A (p.Ala183Thr)
c.745G>A (p.Ala249Thr)
12g.114385535A=CA2064648344TBX5c.696T= (p.Phe232=)
c.546T= (p.Phe182=)
c.744T= (p.Phe248=)
12g.114385535A>CCA386859733TBX5c.696T>G (p.Phe232Leu)
c.546T>G (p.Phe182Leu)
c.744T>G (p.Phe248Leu)
12g.114385535A>GCA6809531TBX5c.696T>C (p.Phe232=)
c.546T>C (p.Phe182=)
c.744T>C (p.Phe248=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114385535A>TCA386859735TBX5c.696T>A (p.Phe232Leu)
c.546T>A (p.Phe182Leu)
c.744T>A (p.Phe248Leu)
12g.114385536A>CCA386859738TBX5c.695T>G (p.Phe232Cys)
c.545T>G (p.Phe182Cys)
c.743T>G (p.Phe248Cys)
12g.114385536A>GCA386859740TBX5c.695T>C (p.Phe232Ser)
c.545T>C (p.Phe182Ser)
c.743T>C (p.Phe248Ser)
12g.114385536A>TCA386859741TBX5c.695T>A (p.Phe232Tyr)
c.545T>A (p.Phe182Tyr)
c.743T>A (p.Phe248Tyr)
12g.114385537A=CA2064648352TBX5c.694T= (p.Phe232=)
c.544T= (p.Phe182=)
c.742T= (p.Phe248=)
12g.114385537A>CCA386859743TBX5c.694T>G (p.Phe232Val)
c.544T>G (p.Phe182Val)
c.742T>G (p.Phe248Val)
 ClinVar dbSNP
12g.114385537A>GCA386859744TBX5c.694T>C (p.Phe232Leu)
c.544T>C (p.Phe182Leu)
c.742T>C (p.Phe248Leu)
 ClinVar
12g.114385537A>TCA386859746TBX5c.694T>A (p.Phe232Ile)
c.544T>A (p.Phe182Ile)
c.742T>A (p.Phe248Ile)
12g.114385538G>ACA481920064TBX5c.693C>T (p.Pro231=)
c.543C>T (p.Pro181=)
c.741C>T (p.Pro247=)
 gnomAD v4
12g.114385538G>CCA481920065TBX5c.693C>G (p.Pro231=)
c.543C>G (p.Pro181=)
c.741C>G (p.Pro247=)
12g.114385538G>TCA481920066TBX5c.693C>A (p.Pro231=)
c.543C>A (p.Pro181=)
c.741C>A (p.Pro247=)
12g.114385539G>ACA386859747TBX5c.692C>T (p.Pro231Leu)
c.542C>T (p.Pro181Leu)
c.740C>T (p.Pro247Leu)
 COSMIC COSMIC
12g.114385539G>CCA386859749TBX5c.692C>G (p.Pro231Arg)
c.542C>G (p.Pro181Arg)
c.740C>G (p.Pro247Arg)
12g.114385539G>TCA386859751TBX5c.692C>A (p.Pro231His)
c.542C>A (p.Pro181His)
c.740C>A (p.Pro247His)
 COSMIC COSMIC
12g.114385540G>ACA386859756TBX5c.691C>T (p.Pro231Ser)
c.541C>T (p.Pro181Ser)
c.739C>T (p.Pro247Ser)
 ClinVar dbSNP COSMIC COSMIC
12g.114385540G>CCA386859754TBX5c.691C>G (p.Pro231Ala)
c.541C>G (p.Pro181Ala)
c.739C>G (p.Pro247Ala)
12g.114385540G>TCA386859752TBX5c.691C>A (p.Pro231Thr)
c.541C>A (p.Pro181Thr)
c.739C>A (p.Pro247Thr)
 ClinVar
12g.114385541A>CCA386859758TBX5c.690T>G (p.Asn230Lys)
c.540T>G (p.Asn180Lys)
c.738T>G (p.Asn246Lys)
12g.114385541A>GCA481920067TBX5c.690T>C (p.Asn230=)
c.540T>C (p.Asn180=)
c.738T>C (p.Asn246=)
12g.114385541A>TCA386859759TBX5c.690T>A (p.Asn230Lys)
c.540T>A (p.Asn180Lys)
c.738T>A (p.Asn246Lys)
12g.114385542T>ACA386859762TBX5c.689A>T (p.Asn230Ile)
c.539A>T (p.Asn180Ile)
c.737A>T (p.Asn246Ile)
12g.114385542T>CCA386859764TBX5c.689A>G (p.Asn230Ser)
c.539A>G (p.Asn180Ser)
c.737A>G (p.Asn246Ser)
12g.114385542T>GCA386859766TBX5c.689A>C (p.Asn230Thr)
c.539A>C (p.Asn180Thr)
c.737A>C (p.Asn246Thr)
12g.114385543T>ACA386859768TBX5c.688A>T (p.Asn230Tyr)
c.538A>T (p.Asn180Tyr)
c.736A>T (p.Asn246Tyr)
12g.114385543T>CCA386859770TBX5c.688A>G (p.Asn230Asp)
c.538A>G (p.Asn180Asp)
c.736A>G (p.Asn246Asp)
12g.114385543T>GCA386859771TBX5c.688A>C (p.Asn230His)
c.538A>C (p.Asn180His)
c.736A>C (p.Asn246His)
12g.114385544A>CCA386859773TBX5c.687T>G (p.Asn229Lys)
c.537T>G (p.Asn179Lys)
c.735T>G (p.Asn245Lys)
12g.114385544A>GCA481920068TBX5c.687T>C (p.Asn229=)
c.537T>C (p.Asn179=)
c.735T>C (p.Asn245=)
 gnomAD v4
12g.114385544A>TCA386859775TBX5c.687T>A (p.Asn229Lys)
c.537T>A (p.Asn179Lys)
c.735T>A (p.Asn245Lys)
12g.114385545T>ACA386859777TBX5c.686A>T (p.Asn229Ile)
c.536A>T (p.Asn179Ile)
c.734A>T (p.Asn245Ile)
12g.114385545T>CCA386859778TBX5c.686A>G (p.Asn229Ser)
c.536A>G (p.Asn179Ser)
c.734A>G (p.Asn245Ser)
12g.114385545T>GCA386859780TBX5c.686A>C (p.Asn229Thr)
c.536A>C (p.Asn179Thr)
c.734A>C (p.Asn245Thr)
 gnomAD v4
12g.114385546T>ACA386859785TBX5c.685A>T (p.Asn229Tyr)
c.535A>T (p.Asn179Tyr)
c.733A>T (p.Asn245Tyr)
12g.114385546T>CCA386859783TBX5c.685A>G (p.Asn229Asp)
c.535A>G (p.Asn179Asp)
c.733A>G (p.Asn245Asp)
12g.114385546T>GCA386859784TBX5c.685A>C (p.Asn229His)
c.535A>C (p.Asn179His)
c.733A>C (p.Asn245His)
12g.114385547C>ACA386859786TBX5c.684G>T (p.Glu228Asp)
c.534G>T (p.Glu178Asp)
c.732G>T (p.Glu244Asp)
12g.114385547C>GCA386859788TBX5c.684G>C (p.Glu228Asp)
c.534G>C (p.Glu178Asp)
c.732G>C (p.Glu244Asp)
12g.114385547C>TCA481920069TBX5c.684G>A (p.Glu228=)
c.534G>A (p.Glu178=)
c.732G>A (p.Glu244=)
12g.114385547_114385551delinsCTCAACA2064648357TBX5c.680_684delinsTTGAG (p.Ile227=)
c.530_534delinsTTGAG (p.Ile177=)
c.728_732delinsTTGAG (p.Ile243=)
12g.114385548T>ACA386859790TBX5c.683A>T (p.Glu228Val)
c.533A>T (p.Glu178Val)
c.731A>T (p.Glu244Val)
12g.114385548T>CCA386859792TBX5c.683A>G (p.Glu228Gly)
c.533A>G (p.Glu178Gly)
c.731A>G (p.Glu244Gly)
 gnomAD v4
12g.114385548T>GCA386859794TBX5c.683A>C (p.Glu228Ala)
c.533A>C (p.Glu178Ala)
c.731A>C (p.Glu244Ala)
12g.114385550_114385553delCA913190895TBX5c.680_683del (p.Ile227ArgfsTer?)
c.530_533del (p.Ile177ArgfsTer?)
c.728_731del (p.Ile243ArgfsTer?)
 ClinVar dbSNP
12g.114385549C>ACA386859796TBX5c.682G>T (p.Glu228Ter)
c.532G>T (p.Glu178Ter)
c.730G>T (p.Glu244Ter)
 COSMIC COSMIC
12g.114385549C>GCA386859797TBX5c.682G>C (p.Glu228Gln)
c.532G>C (p.Glu178Gln)
c.730G>C (p.Glu244Gln)
12g.114385549C>TCA386859799TBX5c.682G>A (p.Glu228Lys)
c.532G>A (p.Glu178Lys)
c.730G>A (p.Glu244Lys)
12g.114385550A>CCA386859801TBX5c.681T>G (p.Ile227Met)
c.531T>G (p.Ile177Met)
c.729T>G (p.Ile243Met)
12g.114385550A>GCA481920070TBX5c.681T>C (p.Ile227=)
c.531T>C (p.Ile177=)
c.729T>C (p.Ile243=)
 gnomAD v4
12g.114385550A>TCA481920071TBX5c.681T>A (p.Ile227=)
c.531T>A (p.Ile177=)
c.729T>A (p.Ile243=)
12g.114385551A>CCA386859803TBX5c.680T>G (p.Ile227Ser)
c.530T>G (p.Ile177Ser)
c.728T>G (p.Ile243Ser)
12g.114385551A>GCA386859805TBX5c.680T>C (p.Ile227Thr)
c.530T>C (p.Ile177Thr)
c.728T>C (p.Ile243Thr)
12g.114385551A>TCA386859807TBX5c.680T>A (p.Ile227Asn)
c.530T>A (p.Ile177Asn)
c.728T>A (p.Ile243Asn)
12g.114385552_114385553insTATTCTCAGATCA2739291736TBX5c.680_681insCTGAGAATAAT (p.Glu228Ter)
c.530_531insCTGAGAATAAT (p.Glu178Ter)
c.728_729insCTGAGAATAAT (p.Glu244Ter)
12g.114385552T>ACA386859812TBX5c.679A>T (p.Ile227Phe)
c.529A>T (p.Ile177Phe)
c.727A>T (p.Ile243Phe)
12g.114385552T>CCA386859810TBX5c.679A>G (p.Ile227Val)
c.529A>G (p.Ile177Val)
c.727A>G (p.Ile243Val)
12g.114385552T>GCA386859809TBX5c.679A>C (p.Ile227Leu)
c.529A>C (p.Ile177Leu)
c.727A>C (p.Ile243Leu)
12g.114385553C>ACA386859814TBX5c.678G>T (p.Lys226Asn)
c.528G>T (p.Lys176Asn)
c.726G>T (p.Lys242Asn)
12g.114385553C=CA2064648372TBX5c.678G= (p.Lys226=)
c.528G= (p.Lys176=)
c.726G= (p.Lys242=)
12g.114385553C>GCA386859816TBX5c.678G>C (p.Lys226Asn)
c.528G>C (p.Lys176Asn)
c.726G>C (p.Lys242Asn)
12g.114385553C>TCA481920072TBX5c.678G>A (p.Lys226=)
c.528G>A (p.Lys176=)
c.726G>A (p.Lys242=)
 dbSNP gnomAD v2 gnomAD v4
12g.114385554T>ACA386859818TBX5c.677A>T (p.Lys226Met)
c.527A>T (p.Lys176Met)
c.725A>T (p.Lys242Met)
12g.114385554T>CCA386859822TBX5c.677A>G (p.Lys226Arg)
c.527A>G (p.Lys176Arg)
c.725A>G (p.Lys242Arg)
 ClinVar dbSNP
12g.114385554T>GCA386859820TBX5c.677A>C (p.Lys226Thr)
c.527A>C (p.Lys176Thr)
c.725A>C (p.Lys242Thr)
12g.114385554T=CA2064648386TBX5c.677A= (p.Lys226=)
c.527A= (p.Lys176=)
c.725A= (p.Lys242=)
12g.114385555T>ACA386859824TBX5c.676A>T (p.Lys226Ter)
c.526A>T (p.Lys176Ter)
c.724A>T (p.Lys242Ter)
12g.114385555T>CCA386859828TBX5c.676A>G (p.Lys226Glu)
c.526A>G (p.Lys176Glu)
c.724A>G (p.Lys242Glu)
 ClinVar dbSNP
12g.114385555T>GCA386859826TBX5c.676A>C (p.Lys226Gln)
c.526A>C (p.Lys176Gln)
c.724A>C (p.Lys242Gln)
12g.114385555T=CA2064648397TBX5c.676A= (p.Lys226=)
c.526A= (p.Lys176=)
c.724A= (p.Lys242=)
12g.114385556T>ACA386859829TBX5c.675A>T (p.Leu225Phe)
c.525A>T (p.Leu175Phe)
c.723A>T (p.Leu241Phe)
12g.114385556T>CCA481920073TBX5c.675A>G (p.Leu225=)
c.525A>G (p.Leu175=)
c.723A>G (p.Leu241=)
12g.114385556T>GCA386859831TBX5c.675A>C (p.Leu225Phe)
c.525A>C (p.Leu175Phe)
c.723A>C (p.Leu241Phe)
12g.114385556_114385557insGCTTGCATATCGACGTTCTTGACGTCTCTCCACACA2556312625TBX5c.674_675insTGTGGAGAGACGTCAAGAACGTCGATATGCAAGC (p.Leu225PhefsTer15)
c.524_525insTGTGGAGAGACGTCAAGAACGTCGATATGCAAGC (p.Leu175PhefsTer15)
c.722_723insTGTGGAGAGACGTCAAGAACGTCGATATGCAAGC (p.Leu241PhefsTer15)
12g.114385557A=CA2064648408TBX5c.674T= (p.Leu225=)
c.524T= (p.Leu175=)
c.722T= (p.Leu241=)
12g.114385557A>CCA386859834TBX5c.674T>G (p.Leu225Ter)
c.524T>G (p.Leu175Ter)
c.722T>G (p.Leu241Ter)
 ClinVar dbSNP
12g.114385557A>GCA386859837TBX5c.674T>C (p.Leu225Ser)
c.524T>C (p.Leu175Ser)
c.722T>C (p.Leu241Ser)
12g.114385557A>TCA386859835TBX5c.674T>A (p.Leu225Ter)
c.524T>A (p.Leu175Ter)
c.722T>A (p.Leu241Ter)
12g.114385558A=CA2064648415TBX5c.673T= (p.Leu225=)
c.523T= (p.Leu175=)
c.721T= (p.Leu241=)
12g.114385558A>CCA386859839TBX5c.673T>G (p.Leu225Val)
c.523T>G (p.Leu175Val)
c.721T>G (p.Leu241Val)
12g.114385558A>GCA6809532TBX5c.673T>C (p.Leu225=)
c.523T>C (p.Leu175=)
c.721T>C (p.Leu241=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.114385558A>TCA386859843TBX5c.673T>A (p.Leu225Ile)
c.523T>A (p.Leu175Ile)
c.721T>A (p.Leu241Ile)
12g.114385559T>ACA386859845TBX5c.672A>T (p.Gln224His)
c.522A>T (p.Gln174His)
c.720A>T (p.Gln240His)
 gnomAD v4
12g.114385559T>CCA481920074TBX5c.672A>G (p.Gln224=)
c.522A>G (p.Gln174=)
c.720A>G (p.Gln240=)
12g.114385559T>GCA386859846TBX5c.672A>C (p.Gln224His)
c.522A>C (p.Gln174His)
c.720A>C (p.Gln240His)
 COSMIC COSMIC
12g.114385560delCA2580614568TBX5c.672del (p.Gln224HisfsTer2)
c.522del (p.Gln174HisfsTer2)
c.720del (p.Gln240HisfsTer2)
 ClinVar
12g.114385559_114385560insCAGGCCGTCCA2541509373TBX5c.671_672insGACGGCCTG (p.Gln225ThrfsTer3)
c.521_522insGACGGCCTG (p.Gln175ThrfsTer3)
c.719_720insGACGGCCTG (p.Gln241ThrfsTer3)
12g.114385560T>ACA386859848TBX5c.671A>T (p.Gln224Leu)
c.521A>T (p.Gln174Leu)
c.719A>T (p.Gln240Leu)
 dbSNP gnomAD v3 gnomAD v4
12g.114385560T>CCA386859849TBX5c.671A>G (p.Gln224Arg)
c.521A>G (p.Gln174Arg)
c.719A>G (p.Gln240Arg)
12g.114385560T>GCA386859851TBX5c.671A>C (p.Gln224Pro)
c.521A>C (p.Gln174Pro)
c.719A>C (p.Gln240Pro)
12g.114385560T=CA2064648420TBX5c.671A= (p.Gln224=)
c.521A= (p.Gln174=)
c.719A= (p.Gln240=)
12g.114385561G>ACA16042784TBX5c.670C>T (p.Gln224Ter)
c.520C>T (p.Gln174Ter)
c.718C>T (p.Gln240Ter)
 ClinVar dbSNP
12g.114385561G>CCA386859854TBX5c.670C>G (p.Gln224Glu)
c.520C>G (p.Gln174Glu)
c.718C>G (p.Gln240Glu)
 COSMIC
12g.114385561G=CA2064648432TBX5c.670C= (p.Gln224=)
c.520C= (p.Gln174=)
c.718C= (p.Gln240=)
12g.114385561G>TCA386859856TBX5c.670C>A (p.Gln224Lys)
c.520C>A (p.Gln174Lys)
c.718C>A (p.Gln240Lys)

Number of alleles fetched