Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.61456508C>ACA501138749TBX4c.18C>A (p.Gly6=)
c.-125-116C>A (n.-125-116C>A)
c.207C>A (p.Gly69=)
 gnomAD v4
17g.61456508C=CA2269031292TBX4c.18C= (p.Gly6=)
c.-125-116C= (n.-125-116C=)
c.207C= (p.Gly69=)
17g.61456508C>GCA501138750TBX4c.18C>G (p.Gly6=)
c.-125-116C>G (n.-125-116C>G)
c.207C>G (p.Gly69=)
17g.61456508C>TCA8689722TBX4c.18C>T (p.Gly6=)
c.-125-116C>T (n.-125-116C>T)
c.207C>T (p.Gly69=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.61456509C>ACA400468618TBX4c.19C>A (p.Leu7Met)
c.-125-115C>A (n.-125-115C>A)
c.208C>A (p.Leu70Met)
 gnomAD v4
17g.61456509C>GCA400468619TBX4c.19C>G (p.Leu7Val)
c.-125-115C>G (n.-125-115C>G)
c.208C>G (p.Leu70Val)
17g.61456509C>TCA501138751TBX4c.19C>T (p.Leu7=)
c.-125-115C>T (n.-125-115C>T)
c.208C>T (p.Leu70=)
 gnomAD v4
17g.61456510T>ACA400468621TBX4c.20T>A (p.Leu7Gln)
c.-125-114T>A (n.-125-114T>A)
c.209T>A (p.Leu70Gln)
 gnomAD v4
17g.61456510T>CCA400468623TBX4c.20T>C (p.Leu7Pro)
c.-125-114T>C (n.-125-114T>C)
c.209T>C (p.Leu70Pro)
 dbSNP gnomAD v2 gnomAD v4
17g.61456510T>GCA400468624TBX4c.20T>G (p.Leu7Arg)
c.-125-114T>G (n.-125-114T>G)
c.209T>G (p.Leu70Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.61456510T=CA2269031293TBX4c.20T= (p.Leu7=)
c.-125-114T= (n.-125-114T=)
c.209T= (p.Leu70=)
17g.61456511G>ACA501138757TBX4c.21G>A (p.Leu7=)
c.-125-113G>A (n.-125-113G>A)
c.210G>A (p.Leu70=)
 gnomAD v4
17g.61456511G>CCA501138756TBX4c.21G>C (p.Leu7=)
c.-125-113G>C (n.-125-113G>C)
c.210G>C (p.Leu70=)
17g.61456511G>TCA501138755TBX4c.21G>T (p.Leu7=)
c.-125-113G>T (n.-125-113G>T)
c.210G>T (p.Leu70=)
 gnomAD v4
17g.61456512T>ACA400468626TBX4c.22T>A (p.Ser8Thr)
c.-125-112T>A (n.-125-112T>A)
c.211T>A (p.Ser71Thr)
 gnomAD v4
17g.61456512T>CCA292260515TBX4c.22T>C (p.Ser8Pro)
c.-125-112T>C (n.-125-112T>C)
c.211T>C (p.Ser71Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.61456512T>GCA400468628TBX4c.22T>G (p.Ser8Ala)
c.-125-112T>G (n.-125-112T>G)
c.211T>G (p.Ser71Ala)
17g.61456512T=CA2269031294TBX4c.22T= (p.Ser8=)
c.-125-112T= (n.-125-112T=)
c.211T= (p.Ser71=)
17g.61456513C>ACA400468630TBX4c.23C>A (p.Ser8Tyr)
c.-125-111C>A (n.-125-111C>A)
c.212C>A (p.Ser71Tyr)
 gnomAD v4
17g.61456513C=CA2269031295TBX4c.23C= (p.Ser8=)
c.-125-111C= (n.-125-111C=)
c.212C= (p.Ser71=)
17g.61456513C>GCA400468632TBX4c.23C>G (p.Ser8Cys)
c.-125-111C>G (n.-125-111C>G)
c.212C>G (p.Ser71Cys)
 gnomAD v4
17g.61456513C>TCA8689723TBX4c.23C>T (p.Ser8Phe)
c.-125-111C>T (n.-125-111C>T)
c.212C>T (p.Ser71Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.61456514C>ACA501138758TBX4c.24C>A (p.Ser8=)
c.-125-110C>A (n.-125-110C>A)
c.213C>A (p.Ser71=)
 dbSNP gnomAD v2 gnomAD v4
17g.61456514C=CA2269031296TBX4c.24C= (p.Ser8=)
c.-125-110C= (n.-125-110C=)
c.213C= (p.Ser71=)
17g.61456514C>GCA501138760TBX4c.24C>G (p.Ser8=)
c.-125-110C>G (n.-125-110C>G)
c.213C>G (p.Ser71=)
 dbSNP
17g.61456514C>TCA8689724TBX4c.24C>T (p.Ser8=)
c.-125-110C>T (n.-125-110C>T)
c.213C>T (p.Ser71=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.61456515G>ACA400468636TBX4c.25G>A (p.Glu9Lys)
c.-125-109G>A (n.-125-109G>A)
c.214G>A (p.Glu72Lys)
 dbSNP gnomAD v2 gnomAD v4
17g.61456515G>CCA8689725TBX4c.25G>C (p.Glu9Gln)
c.-125-109G>C (n.-125-109G>C)
c.214G>C (p.Glu72Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.61456515G=CA2269031297TBX4c.25G= (p.Glu9=)
c.-125-109G= (n.-125-109G=)
c.214G= (p.Glu72=)
17g.61456515G>TCA400468637TBX4c.25G>T (p.Glu9Ter)
c.-125-109G>T (n.-125-109G>T)
c.214G>T (p.Glu72Ter)
 gnomAD v4
17g.61456516A>CCA400468640TBX4c.26A>C (p.Glu9Ala)
c.-125-108A>C (n.-125-108A>C)
c.215A>C (p.Glu72Ala)
17g.61456516A>GCA400468642TBX4c.26A>G (p.Glu9Gly)
c.-125-108A>G (n.-125-108A>G)
c.215A>G (p.Glu72Gly)
 gnomAD v4
17g.61456516A>TCA400468643TBX4c.26A>T (p.Glu9Val)
c.-125-108A>T (n.-125-108A>T)
c.215A>T (p.Glu72Val)
 gnomAD v4
17g.61456517G>ACA501138763TBX4c.27G>A (p.Glu9=)
c.-125-107G>A (n.-125-107G>A)
c.216G>A (p.Glu72=)
 dbSNP gnomAD v2 gnomAD v4
17g.61456517G>CCA400468644TBX4c.27G>C (p.Glu9Asp)
c.-125-107G>C (n.-125-107G>C)
c.216G>C (p.Glu72Asp)
 dbSNP gnomAD v2
17g.61456517G=CA2269031298TBX4c.27G= (p.Glu9=)
c.-125-107G= (n.-125-107G=)
c.216G= (p.Glu72=)
17g.61456517G>TCA400468646TBX4c.27G>T (p.Glu9Asp)
c.-125-107G>T (n.-125-107G>T)
c.216G>T (p.Glu72Asp)
 gnomAD v4
17g.61456518A>CCA400468648TBX4c.28A>C (p.Ser10Arg)
c.-125-106A>C (n.-125-106A>C)
c.217A>C (p.Ser73Arg)
17g.61456518A>GCA400468649TBX4c.28A>G (p.Ser10Gly)
c.-125-106A>G (n.-125-106A>G)
c.217A>G (p.Ser73Gly)
17g.61456518A>TCA400468652TBX4c.28A>T (p.Ser10Cys)
c.-125-106A>T (n.-125-106A>T)
c.217A>T (p.Ser73Cys)
 gnomAD v4
17g.61456519G>ACA400468657TBX4c.29G>A (p.Ser10Asn)
c.-125-105G>A (n.-125-105G>A)
c.218G>A (p.Ser73Asn)
 gnomAD v4
17g.61456519G>CCA400468655TBX4c.29G>C (p.Ser10Thr)
c.-125-105G>C (n.-125-105G>C)
c.218G>C (p.Ser73Thr)
17g.61456519G>TCA400468653TBX4c.29G>T (p.Ser10Ile)
c.-125-105G>T (n.-125-105G>T)
c.218G>T (p.Ser73Ile)
 gnomAD v4
17g.61456520C>ACA400468659TBX4c.30C>A (p.Ser10Arg)
c.-125-104C>A (n.-125-104C>A)
c.219C>A (p.Ser73Arg)
 gnomAD v4
17g.61456520C>GCA400468660TBX4c.30C>G (p.Ser10Arg)
c.-125-104C>G (n.-125-104C>G)
c.219C>G (p.Ser73Arg)
17g.61456520C>TCA501138767TBX4c.30C>T (p.Ser10=)
c.-125-104C>T (n.-125-104C>T)
c.219C>T (p.Ser73=)
 gnomAD v4 COSMIC
17g.61456521G>ACA400468663TBX4c.31G>A (p.Glu11Lys)
c.-125-103G>A (n.-125-103G>A)
c.220G>A (p.Glu74Lys)
 gnomAD v4
17g.61456521G>CCA400468664TBX4c.31G>C (p.Glu11Gln)
c.-125-103G>C (n.-125-103G>C)
c.220G>C (p.Glu74Gln)
17g.61456521G>TCA400468666TBX4c.31G>T (p.Glu11Ter)
c.-125-103G>T (n.-125-103G>T)
c.220G>T (p.Glu74Ter)
 gnomAD v4
17g.61456522A>CCA400468667TBX4c.32A>C (p.Glu11Ala)
c.-125-102A>C (n.-125-102A>C)
c.221A>C (p.Glu74Ala)
17g.61456522A>GCA400468669TBX4c.32A>G (p.Glu11Gly)
c.-125-102A>G (n.-125-102A>G)
c.221A>G (p.Glu74Gly)
 gnomAD v4
17g.61456522A>TCA400468671TBX4c.32A>T (p.Glu11Val)
c.-125-102A>T (n.-125-102A>T)
c.221A>T (p.Glu74Val)
 gnomAD v4
17g.61456523G>ACA501138769TBX4c.33G>A (p.Glu11=)
c.-125-101G>A (n.-125-101G>A)
c.222G>A (p.Glu74=)
 dbSNP gnomAD v2 gnomAD v4
17g.61456523G>CCA400468673TBX4c.33G>C (p.Glu11Asp)
c.-125-101G>C (n.-125-101G>C)
c.222G>C (p.Glu74Asp)
17g.61456523G=CA2269031299TBX4c.33G= (p.Glu11=)
c.-125-101G= (n.-125-101G=)
c.222G= (p.Glu74=)
17g.61456523G>TCA400468674TBX4c.33G>T (p.Glu11Asp)
c.-125-101G>T (n.-125-101G>T)
c.222G>T (p.Glu74Asp)
 gnomAD v4
17g.61456524G>ACA8689726TBX4c.34G>A (p.Glu12Lys)
c.-125-100G>A (n.-125-100G>A)
c.223G>A (p.Glu75Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.61456524G>CCA400468677TBX4c.34G>C (p.Glu12Gln)
c.-125-100G>C (n.-125-100G>C)
c.223G>C (p.Glu75Gln)
17g.61456524G=CA2269031300TBX4c.34G= (p.Glu12=)
c.-125-100G= (n.-125-100G=)
c.223G= (p.Glu75=)
17g.61456524G>TCA400468678TBX4c.34G>T (p.Glu12Ter)
c.-125-100G>T (n.-125-100G>T)
c.223G>T (p.Glu75Ter)
 gnomAD v4
17g.61456525A>CCA400468682TBX4c.35A>C (p.Glu12Ala)
c.-125-99A>C (n.-125-99A>C)
c.224A>C (p.Glu75Ala)
17g.61456525A>GCA400468683TBX4c.35A>G (p.Glu12Gly)
c.-125-99A>G (n.-125-99A>G)
c.224A>G (p.Glu75Gly)
17g.61456525A>TCA400468680TBX4c.35A>T (p.Glu12Val)
c.-125-99A>T (n.-125-99A>T)
c.224A>T (p.Glu75Val)
17g.61456526G>ACA501138770TBX4c.36G>A (p.Glu12=)
c.-125-98G>A (n.-125-98G>A)
c.225G>A (p.Glu75=)
 dbSNP gnomAD v3 gnomAD v4
17g.61456526G>CCA400468685TBX4c.36G>C (p.Glu12Asp)
c.-125-98G>C (n.-125-98G>C)
c.225G>C (p.Glu75Asp)
17g.61456526G=CA2269031301TBX4c.36G= (p.Glu12=)
c.-125-98G= (n.-125-98G=)
c.225G= (p.Glu75=)
17g.61456526G>TCA400468687TBX4c.36G>T (p.Glu12Asp)
c.-125-98G>T (n.-125-98G>T)
c.225G>T (p.Glu75Asp)
 gnomAD v4
17g.61456527G>ACA400468689TBX4c.37G>A (p.Ala13Thr)
c.-125-97G>A (n.-125-97G>A)
c.226G>A (p.Ala76Thr)
 gnomAD v4
17g.61456527G>CCA400468690TBX4c.37G>C (p.Ala13Pro)
c.-125-97G>C (n.-125-97G>C)
c.226G>C (p.Ala76Pro)
17g.61456527G=CA2269031302TBX4c.37G= (p.Ala13=)
c.-125-97G= (n.-125-97G=)
c.226G= (p.Ala76=)
17g.61456527G>TCA292260526TBX4c.37G>T (p.Ala13Ser)
c.-125-97G>T (n.-125-97G>T)
c.226G>T (p.Ala76Ser)
 dbSNP gnomAD v4
17g.61456527_61456537delinsGCCTTCCGGGCCA2269031303TBX4c.37_47delinsGCCTTCCGGGC (p.Ala13=)
c.-125-97_-125-87delinsGCCTTCCGGGC (n.-125-97_-125-87delinsGCCTTCCGGGC)
c.226_236delinsGCCTTCCGGGC (p.Ala76=)
17g.61456528C>ACA400468697TBX4c.38C>A (p.Ala13Asp)
c.-125-96C>A (n.-125-96C>A)
c.227C>A (p.Ala76Asp)
 dbSNP gnomAD v4
17g.61456528C=CA2269031304TBX4c.38C= (p.Ala13=)
c.-125-96C= (n.-125-96C=)
c.227C= (p.Ala76=)
17g.61456528C>GCA400468695TBX4c.38C>G (p.Ala13Gly)
c.-125-96C>G (n.-125-96C>G)
c.227C>G (p.Ala76Gly)
 dbSNP
17g.61456528C>TCA400468693TBX4c.38C>T (p.Ala13Val)
c.-125-96C>T (n.-125-96C>T)
c.227C>T (p.Ala76Val)
 dbSNP gnomAD v2 gnomAD v4
17g.61456530_61456539delCA915950654TBX4c.40_49del (p.Phe14ArgfsTer28)
c.-125-94_-125-85del (n.-125-94_-125-85del)
c.229_238del (p.Phe77ArgfsTer28)
 ClinVar dbSNP
17g.61456529C>ACA501138773TBX4c.39C>A (p.Ala13=)
c.-125-95C>A (n.-125-95C>A)
c.228C>A (p.Ala76=)
 gnomAD v4
17g.61456529C>GCA501138774TBX4c.39C>G (p.Ala13=)
c.-125-95C>G (n.-125-95C>G)
c.228C>G (p.Ala76=)
 gnomAD v4
17g.61456529C>TCA501138775TBX4c.39C>T (p.Ala13=)
c.-125-95C>T (n.-125-95C>T)
c.228C>T (p.Ala76=)
 gnomAD v4
17g.61456530T>ACA400468699TBX4c.40T>A (p.Phe14Ile)
c.-125-94T>A (n.-125-94T>A)
c.229T>A (p.Phe77Ile)
 gnomAD v4
17g.61456530T>CCA400468700TBX4c.40T>C (p.Phe14Leu)
c.-125-94T>C (n.-125-94T>C)
c.229T>C (p.Phe77Leu)
 gnomAD v4
17g.61456530T>GCA400468702TBX4c.40T>G (p.Phe14Val)
c.-125-94T>G (n.-125-94T>G)
c.229T>G (p.Phe77Val)
17g.61456531T>ACA400468704TBX4c.41T>A (p.Phe14Tyr)
c.-125-93T>A (n.-125-93T>A)
c.230T>A (p.Phe77Tyr)
 gnomAD v4
17g.61456531T>CCA8689727TBX4c.41T>C (p.Phe14Ser)
c.-125-93T>C (n.-125-93T>C)
c.230T>C (p.Phe77Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.61456531T>GCA400468706TBX4c.41T>G (p.Phe14Cys)
c.-125-93T>G (n.-125-93T>G)
c.230T>G (p.Phe77Cys)
17g.61456531T=CA2269031305TBX4c.41T= (p.Phe14=)
c.-125-93T= (n.-125-93T=)
c.230T= (p.Phe77=)
17g.61456532C>ACA400468711TBX4c.42C>A (p.Phe14Leu)
c.-125-92C>A (n.-125-92C>A)
c.231C>A (p.Phe77Leu)
 gnomAD v4
17g.61456532C=CA2269031306TBX4c.42C= (p.Phe14=)
c.-125-92C= (n.-125-92C=)
c.231C= (p.Phe77=)
17g.61456532C>GCA400468708TBX4c.42C>G (p.Phe14Leu)
c.-125-92C>G (n.-125-92C>G)
c.231C>G (p.Phe77Leu)
 gnomAD v4
17g.61456532C>TCA8689728TBX4c.42C>T (p.Phe14=)
c.-125-92C>T (n.-125-92C>T)
c.231C>T (p.Phe77=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.61456533C>ACA292260531TBX4c.43C>A (p.Arg15=)
c.-125-91C>A (n.-125-91C>A)
c.232C>A (p.Arg78=)
 dbSNP gnomAD v4
17g.61456533C=CA2269031307TBX4c.43C= (p.Arg15=)
c.-125-91C= (n.-125-91C=)
c.232C= (p.Arg78=)
17g.61456533C>GCA400468712TBX4c.43C>G (p.Arg15Gly)
c.-125-91C>G (n.-125-91C>G)
c.232C>G (p.Arg78Gly)
 gnomAD v4
17g.61456533C>TCA8689729TBX4c.43C>T (p.Arg15Trp)
c.-125-91C>T (n.-125-91C>T)
c.232C>T (p.Arg78Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.61456534G>ACA400468715TBX4c.44G>A (p.Arg15Gln)
c.-125-90G>A (n.-125-90G>A)
c.233G>A (p.Arg78Gln)
 dbSNP gnomAD v4
17g.61456534G>CCA400468717TBX4c.44G>C (p.Arg15Pro)
c.-125-90G>C (n.-125-90G>C)
c.233G>C (p.Arg78Pro)
 dbSNP gnomAD v4
17g.61456534G=CA2269031308TBX4c.44G= (p.Arg15=)
c.-125-90G= (n.-125-90G=)
c.233G= (p.Arg78=)
17g.61456534G>TCA400468718TBX4c.44G>T (p.Arg15Leu)
c.-125-90G>T (n.-125-90G>T)
c.233G>T (p.Arg78Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.61456536delCA2639148105TBX4c.46del (p.Ala16ProfsTer29)
c.-125-88del (n.-125-88del)
c.235del (p.Ala79ProfsTer29)
 gnomAD v4
17g.61456535G>ACA501138780TBX4c.45G>A (p.Arg15=)
c.-125-89G>A (n.-125-89G>A)
c.234G>A (p.Arg78=)
 gnomAD v4
17g.61456535G>CCA501138782TBX4c.45G>C (p.Arg15=)
c.-125-89G>C (n.-125-89G>C)
c.234G>C (p.Arg78=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.61456535G=CA2269031309TBX4c.45G= (p.Arg15=)
c.-125-89G= (n.-125-89G=)
c.234G= (p.Arg78=)
17g.61456535G>TCA501138781TBX4c.45G>T (p.Arg15=)
c.-125-89G>T (n.-125-89G>T)
c.234G>T (p.Arg78=)
 gnomAD v4
17g.61456536G>ACA400468724TBX4c.46G>A (p.Ala16Thr)
c.-125-88G>A (n.-125-88G>A)
c.235G>A (p.Ala79Thr)
17g.61456536G>CCA400468722TBX4c.46G>C (p.Ala16Pro)
c.-125-88G>C (n.-125-88G>C)
c.235G>C (p.Ala79Pro)
17g.61456536G>TCA400468720TBX4c.46G>T (p.Ala16Ser)
c.-125-88G>T (n.-125-88G>T)
c.235G>T (p.Ala79Ser)
 gnomAD v4
17g.61456537C>ACA400468726TBX4c.47C>A (p.Ala16Asp)
c.-125-87C>A (n.-125-87C>A)
c.236C>A (p.Ala79Asp)
 dbSNP gnomAD v2 gnomAD v4
17g.61456537C=CA2269031310TBX4c.47C= (p.Ala16=)
c.-125-87C= (n.-125-87C=)
c.236C= (p.Ala79=)
17g.61456537C>GCA400468727TBX4c.47C>G (p.Ala16Gly)
c.-125-87C>G (n.-125-87C>G)
c.236C>G (p.Ala79Gly)
17g.61456537C>TCA400468729TBX4c.47C>T (p.Ala16Val)
c.-125-87C>T (n.-125-87C>T)
c.236C>T (p.Ala79Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.61456540delCA2639148116TBX4c.50del (p.Pro17ArgfsTer28)
c.-125-84del (n.-125-84del)
c.239del (p.Pro80ArgfsTer28)
 gnomAD v4
17g.61456538_61456546delCA2810061058TBX4c.48_56del (p.Pro17_Pro19del)
c.-125-86_-125-78del (n.-125-86_-125-78del)
c.237_245del (p.Pro80_Pro82del)
17g.61456538C>ACA501138786TBX4c.48C>A (p.Ala16=)
c.-125-86C>A (n.-125-86C>A)
c.237C>A (p.Ala79=)
 gnomAD v4
17g.61456538C=CA2269031311TBX4c.48C= (p.Ala16=)
c.-125-86C= (n.-125-86C=)
c.237C= (p.Ala79=)
17g.61456538C>GCA501138787TBX4c.48C>G (p.Ala16=)
c.-125-86C>G (n.-125-86C>G)
c.237C>G (p.Ala79=)
 gnomAD v4
17g.61456538C>TCA292260534TBX4c.48C>T (p.Ala16=)
c.-125-86C>T (n.-125-86C>T)
c.237C>T (p.Ala79=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.61456539C>ACA400468731TBX4c.49C>A (p.Pro17Thr)
c.-125-85C>A (n.-125-85C>A)
c.238C>A (p.Pro80Thr)
 gnomAD v4
17g.61456539C>GCA400468732TBX4c.49C>G (p.Pro17Ala)
c.-125-85C>G (n.-125-85C>G)
c.238C>G (p.Pro80Ala)
 gnomAD v4
17g.61456539C>TCA400468734TBX4c.49C>T (p.Pro17Ser)
c.-125-85C>T (n.-125-85C>T)
c.238C>T (p.Pro80Ser)
 gnomAD v4
17g.61456540C>ACA400468736TBX4c.50C>A (p.Pro17Gln)
c.-125-84C>A (n.-125-84C>A)
c.239C>A (p.Pro80Gln)
 gnomAD v4
17g.61456540C=CA2269031312TBX4c.50C= (p.Pro17=)
c.-125-84C= (n.-125-84C=)
c.239C= (p.Pro80=)
17g.61456540C>GCA400468740TBX4c.50C>G (p.Pro17Arg)
c.-125-84C>G (n.-125-84C>G)
c.239C>G (p.Pro80Arg)
 gnomAD v4
17g.61456540C>TCA400468738TBX4c.50C>T (p.Pro17Leu)
c.-125-84C>T (n.-125-84C>T)
c.239C>T (p.Pro80Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.61456541G>ACA501138789TBX4c.51G>A (p.Pro17=)
c.-125-83G>A (n.-125-83G>A)
c.240G>A (p.Pro80=)
 gnomAD v4
17g.61456541G>CCA501138791TBX4c.51G>C (p.Pro17=)
c.-125-83G>C (n.-125-83G>C)
c.240G>C (p.Pro80=)
 gnomAD v4
17g.61456541G>TCA501138790TBX4c.51G>T (p.Pro17=)
c.-125-83G>T (n.-125-83G>T)
c.240G>T (p.Pro80=)
 gnomAD v4
17g.61456543delCA2639148131TBX4c.53del (p.Gly18AlafsTer27)
c.-125-81del (n.-125-81del)
c.242del (p.Gly81AlafsTer27)
 gnomAD v4
17g.61456542G>ACA400468742TBX4c.52G>A (p.Gly18Ser)
c.-125-82G>A (n.-125-82G>A)
c.241G>A (p.Gly81Ser)
 gnomAD v4
17g.61456542G>CCA400468743TBX4c.52G>C (p.Gly18Arg)
c.-125-82G>C (n.-125-82G>C)
c.241G>C (p.Gly81Arg)
17g.61456542G=CA2269031313TBX4c.52G= (p.Gly18=)
c.-125-82G= (n.-125-82G=)
c.241G= (p.Gly81=)
17g.61456542G>TCA400468744TBX4c.52G>T (p.Gly18Cys)
c.-125-82G>T (n.-125-82G>T)
c.241G>T (p.Gly81Cys)
 dbSNP gnomAD v4
17g.61456542_61456563delinsGGCCCAGCGCTCGGAGAGGCCACA2269031314TBX4c.52_73delinsGGCCCAGCGCTCGGAGAGGCCA (p.Gly18=)
c.-125-82_-125-61delinsGGCCCAGCGCTCGGAGAGGCCA (n.-125-82_-125-61delinsGGCCCAGCGCTCGGAGAGGCCA)
c.241_262delinsGGCCCAGCGCTCGGAGAGGCCA (p.Gly81=)
17g.61456543G>ACA400468746TBX4c.53G>A (p.Gly18Asp)
c.-125-81G>A (n.-125-81G>A)
c.242G>A (p.Gly81Asp)
 dbSNP gnomAD v4
17g.61456543G>CCA400468748TBX4c.53G>C (p.Gly18Ala)
c.-125-81G>C (n.-125-81G>C)
c.242G>C (p.Gly81Ala)
17g.61456543G=CA2269031315TBX4c.53G= (p.Gly18=)
c.-125-81G= (n.-125-81G=)
c.242G= (p.Gly81=)
17g.61456543G>TCA400468750TBX4c.53G>T (p.Gly18Val)
c.-125-81G>T (n.-125-81G>T)
c.242G>T (p.Gly81Val)
 gnomAD v4
17g.61456545_61456565delCA627146398TBX4c.55_75del (p.Pro19_Ser25del)
c.-125-79_-125-59del (n.-125-79_-125-59del)
c.244_264del (p.Pro82_Ser88del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.61456544C>ACA501138792TBX4c.54C>A (p.Gly18=)
c.-125-80C>A (n.-125-80C>A)
c.243C>A (p.Gly81=)
 gnomAD v4
17g.61456544C>GCA501138793TBX4c.54C>G (p.Gly18=)
c.-125-80C>G (n.-125-80C>G)
c.243C>G (p.Gly81=)
17g.61456544C>TCA501138794TBX4c.54C>T (p.Gly18=)
c.-125-80C>T (n.-125-80C>T)
c.243C>T (p.Gly81=)
 gnomAD v4
17g.61456545C>ACA400468752TBX4c.55C>A (p.Pro19Thr)
c.-125-79C>A (n.-125-79C>A)
c.244C>A (p.Pro82Thr)
 gnomAD v4
17g.61456545C>GCA400468754TBX4c.55C>G (p.Pro19Ala)
c.-125-79C>G (n.-125-79C>G)
c.244C>G (p.Pro82Ala)
 gnomAD v4
17g.61456545C>TCA400468755TBX4c.55C>T (p.Pro19Ser)
c.-125-79C>T (n.-125-79C>T)
c.244C>T (p.Pro82Ser)
17g.61456546C>ACA400468757TBX4c.56C>A (p.Pro19Gln)
c.-125-78C>A (n.-125-78C>A)
c.245C>A (p.Pro82Gln)
 gnomAD v4
17g.61456546C>GCA400468759TBX4c.56C>G (p.Pro19Arg)
c.-125-78C>G (n.-125-78C>G)
c.245C>G (p.Pro82Arg)
17g.61456546C>TCA400468760TBX4c.56C>T (p.Pro19Leu)
c.-125-78C>T (n.-125-78C>T)
c.245C>T (p.Pro82Leu)
 gnomAD v4
17g.61456547A>CCA501138796TBX4c.57A>C (p.Pro19=)
c.-125-77A>C (n.-125-77A>C)
c.246A>C (p.Pro82=)
17g.61456547A>GCA501138797TBX4c.57A>G (p.Pro19=)
c.-125-77A>G (n.-125-77A>G)
c.246A>G (p.Pro82=)
 gnomAD v4
17g.61456547A>TCA501138798TBX4c.57A>T (p.Pro19=)
c.-125-77A>T (n.-125-77A>T)
c.246A>T (p.Pro82=)
17g.61456548G>ACA400468765TBX4c.58G>A (p.Ala20Thr)
c.-125-76G>A (n.-125-76G>A)
c.247G>A (p.Ala83Thr)
17g.61456548G>CCA400468766TBX4c.58G>C (p.Ala20Pro)
c.-125-76G>C (n.-125-76G>C)
c.247G>C (p.Ala83Pro)
17g.61456548G>TCA400468763TBX4c.58G>T (p.Ala20Ser)
c.-125-76G>T (n.-125-76G>T)
c.247G>T (p.Ala83Ser)
17g.61456550_61456561delCA2810061059TBX4c.60_71del (p.Leu21_Ala24del)
c.-125-74_-125-63del (n.-125-74_-125-63del)
c.249_260del (p.Leu84_Ala87del)
17g.61456549C>ACA400468768TBX4c.59C>A (p.Ala20Glu)
c.-125-75C>A (n.-125-75C>A)
c.248C>A (p.Ala83Glu)
 gnomAD v4
17g.61456549C>GCA400468770TBX4c.59C>G (p.Ala20Gly)
c.-125-75C>G (n.-125-75C>G)
c.248C>G (p.Ala83Gly)
 gnomAD v4
17g.61456549C>TCA400468772TBX4c.59C>T (p.Ala20Val)
c.-125-75C>T (n.-125-75C>T)
c.248C>T (p.Ala83Val)
 gnomAD v4
17g.61456550G>ACA501138803TBX4c.60G>A (p.Ala20=)
c.-125-74G>A (n.-125-74G>A)
c.249G>A (p.Ala83=)
17g.61456550G>CCA501138799TBX4c.60G>C (p.Ala20=)
c.-125-74G>C (n.-125-74G>C)
c.249G>C (p.Ala83=)
17g.61456550G=CA2269031316TBX4c.60G= (p.Ala20=)
c.-125-74G= (n.-125-74G=)
c.249G= (p.Ala83=)
17g.61456550G>TCA501138801TBX4c.60G>T (p.Ala20=)
c.-125-74G>T (n.-125-74G>T)
c.249G>T (p.Ala83=)
 dbSNP gnomAD v3 gnomAD v4
17g.61456551C>ACA400468774TBX4c.61C>A (p.Leu21Ile)
c.-125-73C>A (n.-125-73C>A)
c.250C>A (p.Leu84Ile)
 gnomAD v4
17g.61456551C>GCA400468776TBX4c.61C>G (p.Leu21Val)
c.-125-73C>G (n.-125-73C>G)
c.250C>G (p.Leu84Val)
 gnomAD v4
17g.61456551C>TCA400468777TBX4c.61C>T (p.Leu21Phe)
c.-125-73C>T (n.-125-73C>T)
c.250C>T (p.Leu84Phe)
17g.61456552T>ACA400468779TBX4c.62T>A (p.Leu21His)
c.-125-72T>A (n.-125-72T>A)
c.251T>A (p.Leu84His)
17g.61456552T>CCA400468783TBX4c.62T>C (p.Leu21Pro)
c.-125-72T>C (n.-125-72T>C)
c.251T>C (p.Leu84Pro)
17g.61456552T>GCA400468781TBX4c.62T>G (p.Leu21Arg)
c.-125-72T>G (n.-125-72T>G)
c.251T>G (p.Leu84Arg)
17g.61456553C>ACA292260538TBX4c.63C>A (p.Leu21=)
c.-125-71C>A (n.-125-71C>A)
c.252C>A (p.Leu84=)
 dbSNP gnomAD v3 gnomAD v4
17g.61456553C=CA2269031317TBX4c.63C= (p.Leu21=)
c.-125-71C= (n.-125-71C=)
c.252C= (p.Leu84=)
17g.61456553C>GCA8689730TBX4c.63C>G (p.Leu21=)
c.-125-71C>G (n.-125-71C>G)
c.252C>G (p.Leu84=)
 dbSNP ExAC gnomAD v4
17g.61456553C>TCA501138805TBX4c.63C>T (p.Leu21=)
c.-125-71C>T (n.-125-71C>T)
c.252C>T (p.Leu84=)
 dbSNP gnomAD v2 gnomAD v4
17g.61456554G>ACA400468786TBX4c.64G>A (p.Gly22Arg)
c.-125-70G>A (n.-125-70G>A)
c.253G>A (p.Gly85Arg)
 gnomAD v4
17g.61456554G>CCA8689731TBX4c.64G>C (p.Gly22Arg)
c.-125-70G>C (n.-125-70G>C)
c.253G>C (p.Gly85Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.61456554G=CA2269031318TBX4c.64G= (p.Gly22=)
c.-125-70G= (n.-125-70G=)
c.253G= (p.Gly85=)
17g.61456554G>TCA400468788TBX4c.64G>T (p.Gly22Ter)
c.-125-70G>T (n.-125-70G>T)
c.253G>T (p.Gly85Ter)
 ClinVar dbSNP gnomAD v4
17g.61456555G>ACA400468790TBX4c.65G>A (p.Gly22Glu)
c.-125-69G>A (n.-125-69G>A)
c.254G>A (p.Gly85Glu)
 gnomAD v4 COSMIC
17g.61456555G>CCA8689732TBX4c.65G>C (p.Gly22Ala)
c.-125-69G>C (n.-125-69G>C)
c.254G>C (p.Gly85Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.61456555G=CA2269031319TBX4c.65G= (p.Gly22=)
c.-125-69G= (n.-125-69G=)
c.254G= (p.Gly85=)
17g.61456555G>TCA400468792TBX4c.65G>T (p.Gly22Val)
c.-125-69G>T (n.-125-69G>T)
c.254G>T (p.Gly85Val)
 gnomAD v4
17g.61456556A>CCA501138807TBX4c.66A>C (p.Gly22=)
c.-125-68A>C (n.-125-68A>C)
c.255A>C (p.Gly85=)
 dbSNP
17g.61456556A>GCA501138806TBX4c.66A>G (p.Gly22=)
c.-125-68A>G (n.-125-68A>G)
c.255A>G (p.Gly85=)
 gnomAD v4
17g.61456556A>TCA501138808TBX4c.66A>T (p.Gly22=)
c.-125-68A>T (n.-125-68A>T)
c.255A>T (p.Gly85=)
 gnomAD v4
17g.61456557G>ACA400468794TBX4c.67G>A (p.Glu23Lys)
c.-125-67G>A (n.-125-67G>A)
c.256G>A (p.Glu86Lys)
 dbSNP gnomAD v2 COSMIC
17g.61456557G>CCA400468798TBX4c.67G>C (p.Glu23Gln)
c.-125-67G>C (n.-125-67G>C)
c.256G>C (p.Glu86Gln)
 gnomAD v4
17g.61456557G=CA2269031320TBX4c.67G= (p.Glu23=)
c.-125-67G= (n.-125-67G=)
c.256G= (p.Glu86=)
17g.61456557G>TCA400468796TBX4c.67G>T (p.Glu23Ter)
c.-125-67G>T (n.-125-67G>T)
c.256G>T (p.Glu86Ter)
17g.61456558A=CA2269031321TBX4c.68A= (p.Glu23=)
c.-125-66A= (n.-125-66A=)
c.257A= (p.Glu86=)
17g.61456558A>CCA400468800TBX4c.68A>C (p.Glu23Ala)
c.-125-66A>C (n.-125-66A>C)
c.257A>C (p.Glu86Ala)
17g.61456558A>GCA400468802TBX4c.68A>G (p.Glu23Gly)
c.-125-66A>G (n.-125-66A>G)
c.257A>G (p.Glu86Gly)
 gnomAD v4
17g.61456558A>TCA400468804TBX4c.68A>T (p.Glu23Val)
c.-125-66A>T (n.-125-66A>T)
c.257A>T (p.Glu86Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.61456559G>ACA501138809TBX4c.69G>A (p.Glu23=)
c.-125-65G>A (n.-125-65G>A)
c.258G>A (p.Glu86=)
17g.61456559G>CCA400468806TBX4c.69G>C (p.Glu23Asp)
c.-125-65G>C (n.-125-65G>C)
c.258G>C (p.Glu86Asp)
17g.61456559G=CA2269031322TBX4c.69G= (p.Glu23=)
c.-125-65G= (n.-125-65G=)
c.258G= (p.Glu86=)
17g.61456559G>TCA400468807TBX4c.69G>T (p.Glu23Asp)
c.-125-65G>T (n.-125-65G>T)
c.258G>T (p.Glu86Asp)
 dbSNP gnomAD v3 gnomAD v4
17g.61456560G>ACA400468809TBX4c.70G>A (p.Ala24Thr)
c.-125-64G>A (n.-125-64G>A)
c.259G>A (p.Ala87Thr)
 gnomAD v4
17g.61456560G>CCA400468811TBX4c.70G>C (p.Ala24Pro)
c.-125-64G>C (n.-125-64G>C)
c.259G>C (p.Ala87Pro)
17g.61456560G>TCA400468812TBX4c.70G>T (p.Ala24Ser)
c.-125-64G>T (n.-125-64G>T)
c.259G>T (p.Ala87Ser)
 gnomAD v4
17g.61456561C>ACA400468814TBX4c.71C>A (p.Ala24Asp)
c.-125-63C>A (n.-125-63C>A)
c.260C>A (p.Ala87Asp)
 gnomAD v4
17g.61456561C=CA2269031323TBX4c.71C= (p.Ala24=)
c.-125-63C= (n.-125-63C=)
c.260C= (p.Ala87=)
17g.61456561C>GCA400468815TBX4c.71C>G (p.Ala24Gly)
c.-125-63C>G (n.-125-63C>G)
c.260C>G (p.Ala87Gly)
17g.61456561C>TCA8689733TBX4c.71C>T (p.Ala24Val)
c.-125-63C>T (n.-125-63C>T)
c.260C>T (p.Ala87Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.61456562C>ACA501138813TBX4c.72C>A (p.Ala24=)
c.-125-62C>A (n.-125-62C>A)
c.261C>A (p.Ala87=)
 gnomAD v4
17g.61456562C>GCA501138814TBX4c.72C>G (p.Ala24=)
c.-125-62C>G (n.-125-62C>G)
c.261C>G (p.Ala87=)
17g.61456562C>TCA501138815TBX4c.72C>T (p.Ala24=)
c.-125-62C>T (n.-125-62C>T)
c.261C>T (p.Ala87=)
17g.61456563A=CA2269031324TBX4c.73A= (p.Ser25=)
c.-125-61A= (n.-125-61A=)
c.262A= (p.Ser88=)
17g.61456563A>CCA400468821TBX4c.73A>C (p.Ser25Arg)
c.-125-61A>C (n.-125-61A>C)
c.262A>C (p.Ser88Arg)
 dbSNP gnomAD v4
17g.61456563A>GCA400468817TBX4c.73A>G (p.Ser25Gly)
c.-125-61A>G (n.-125-61A>G)
c.262A>G (p.Ser88Gly)
 dbSNP gnomAD v3 gnomAD v4
17g.61456563A>TCA400468819TBX4c.73A>T (p.Ser25Cys)
c.-125-61A>T (n.-125-61A>T)
c.262A>T (p.Ser88Cys)
17g.61456564G>ACA400468822TBX4c.74G>A (p.Ser25Asn)
c.-125-60G>A (n.-125-60G>A)
c.263G>A (p.Ser88Asn)
17g.61456564G>CCA400468823TBX4c.74G>C (p.Ser25Thr)
c.-125-60G>C (n.-125-60G>C)
c.263G>C (p.Ser88Thr)
 dbSNP gnomAD v4
17g.61456564G=CA2269031325TBX4c.74G= (p.Ser25=)
c.-125-60G= (n.-125-60G=)
c.263G= (p.Ser88=)
17g.61456564G>TCA400468825TBX4c.74G>T (p.Ser25Ile)
c.-125-60G>T (n.-125-60G>T)
c.263G>T (p.Ser88Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.61456565C>ACA400468827TBX4c.75C>A (p.Ser25Arg)
c.-125-59C>A (n.-125-59C>A)
c.264C>A (p.Ser88Arg)
 gnomAD v4
17g.61456565C>GCA400468830TBX4c.75C>G (p.Ser25Arg)
c.-125-59C>G (n.-125-59C>G)
c.264C>G (p.Ser88Arg)
17g.61456565C>TCA501138816TBX4c.75C>T (p.Ser25=)
c.-125-59C>T (n.-125-59C>T)
c.264C>T (p.Ser88=)
17g.61456566G>ACA400468840TBX4c.76G>A (p.Ala26Thr)
c.-125-58G>A (n.-125-58G>A)
c.265G>A (p.Ala89Thr)
 gnomAD v4
17g.61456566G>CCA400468841TBX4c.76G>C (p.Ala26Pro)
c.-125-58G>C (n.-125-58G>C)
c.265G>C (p.Ala89Pro)
17g.61456566G=CA2269031326TBX4c.76G= (p.Ala26=)
c.-125-58G= (n.-125-58G=)
c.265G= (p.Ala89=)
17g.61456566G>TCA400468842TBX4c.76G>T (p.Ala26Ser)
c.-125-58G>T (n.-125-58G>T)
c.265G>T (p.Ala89Ser)
 dbSNP gnomAD v2 gnomAD v4
17g.61456568_61456570delCA2810061060TBX4c.78_80del (p.Ala27del)
c.-125-56_-125-54del (n.-125-56_-125-54del)
c.267_269del (p.Ala90del)
17g.61456567C>ACA400468843TBX4c.77C>A (p.Ala26Glu)
c.-125-57C>A (n.-125-57C>A)
c.266C>A (p.Ala89Glu)
 gnomAD v4
17g.61456567C=CA2269031327TBX4c.77C= (p.Ala26=)
c.-125-57C= (n.-125-57C=)
c.266C= (p.Ala89=)
17g.61456567C>GCA400468844TBX4c.77C>G (p.Ala26Gly)
c.-125-57C>G (n.-125-57C>G)
c.266C>G (p.Ala89Gly)
17g.61456567C>TCA400468845TBX4c.77C>T (p.Ala26Val)
c.-125-57C>T (n.-125-57C>T)
c.266C>T (p.Ala89Val)
 dbSNP gnomAD v2 gnomAD v4
17g.61456568A>CCA501138817TBX4c.78A>C (p.Ala26=)
c.-125-56A>C (n.-125-56A>C)
c.267A>C (p.Ala89=)
17g.61456568A>GCA501138818TBX4c.78A>G (p.Ala26=)
c.-125-56A>G (n.-125-56A>G)
c.267A>G (p.Ala89=)
 gnomAD v4
17g.61456568A>TCA501138819TBX4c.78A>T (p.Ala26=)
c.-125-56A>T (n.-125-56A>T)
c.267A>T (p.Ala89=)
17g.61456569G>ACA400468849TBX4c.79G>A (p.Ala27Thr)
c.-125-55G>A (n.-125-55G>A)
c.268G>A (p.Ala90Thr)
 gnomAD v4
17g.61456569G>CCA400468850TBX4c.79G>C (p.Ala27Pro)
c.-125-55G>C (n.-125-55G>C)
c.268G>C (p.Ala90Pro)
17g.61456569G=CA2269031328TBX4c.79G= (p.Ala27=)
c.-125-55G= (n.-125-55G=)
c.268G= (p.Ala90=)
17g.61456569G>TCA400468847TBX4c.79G>T (p.Ala27Ser)
c.-125-55G>T (n.-125-55G>T)
c.268G>T (p.Ala90Ser)
 dbSNP gnomAD v3 gnomAD v4
17g.61456570C>ACA400468852TBX4c.80C>A (p.Ala27Asp)
c.-125-54C>A (n.-125-54C>A)
c.269C>A (p.Ala90Asp)
17g.61456570C>GCA400468854TBX4c.80C>G (p.Ala27Gly)
c.-125-54C>G (n.-125-54C>G)
c.269C>G (p.Ala90Gly)
17g.61456570C>TCA400468856TBX4c.80C>T (p.Ala27Val)
c.-125-54C>T (n.-125-54C>T)
c.269C>T (p.Ala90Val)
 gnomAD v4
17g.61456571C>ACA501138825TBX4c.81C>A (p.Ala27=)
c.-125-53C>A (n.-125-53C>A)
c.270C>A (p.Ala90=)
 gnomAD v4
17g.61456571C>GCA501138824TBX4c.81C>G (p.Ala27=)
c.-125-53C>G (n.-125-53C>G)
c.270C>G (p.Ala90=)
17g.61456571C>TCA501138823TBX4c.81C>T (p.Ala27=)
c.-125-53C>T (n.-125-53C>T)
c.270C>T (p.Ala90=)
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)

Number of alleles fetched