Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.114398598_114398615delinsTTGGTGAGCTTGAGTTTCCA2064649368TBX5c.468_485delinsGAAACTCAAGCTCACCAA (p.Gln156=)
c.318_335delinsGAAACTCAAGCTCACCAA (p.Gln106=)
n.519_536delinsGAAACTCAAGCTCACCAA
c.516_533delinsGAAACTCAAGCTCACCAA (p.Gln172=)
12g.114398602_114398618delCA321135TBX5c.468_484del (p.Lys157GlnfsTer20)
c.318_334del (p.Lys107GlnfsTer20)
n.519_535del
c.516_532del (p.Lys173GlnfsTer20)
 ClinVar dbSNP
12g.114398606_114398611dupCA2695217401TBX5c.476_481dup (p.Leu160_Thr161insLysLeu)
c.326_331dup (p.Leu110_Thr111insLysLeu)
n.527_532dup
c.524_529dup (p.Leu176_Thr177insLysLeu)
12g.114398606_114398610delinsCTTGACA2064649416TBX5c.473_477delinsTCAAG (p.Leu158=)
c.323_327delinsTCAAG (p.Leu108=)
n.524_528delinsTCAAG
c.521_525delinsTCAAG (p.Leu174=)
12g.114398607_114398610delCA658797965TBX5c.473_476del (p.Leu158ArgfsTer15)
c.323_326del (p.Leu108ArgfsTer15)
n.524_527del
c.521_524del (p.Leu174ArgfsTer15)
 ClinVar dbSNP
12g.114398610A>CCA386862019TBX5c.473T>G (p.Leu158Arg)
c.323T>G (p.Leu108Arg)
n.524T>G
c.521T>G (p.Leu174Arg)
12g.114398610A>GCA386862020TBX5c.473T>C (p.Leu158Pro)
c.323T>C (p.Leu108Pro)
n.524T>C
c.521T>C (p.Leu174Pro)
12g.114398610A>TCA386862021TBX5c.473T>A (p.Leu158His)
c.323T>A (p.Leu108His)
n.524T>A
c.521T>A (p.Leu174His)
12g.114398611G>ACA386862022TBX5c.472C>T (p.Leu158Phe)
c.322C>T (p.Leu108Phe)
n.523C>T
c.520C>T (p.Leu174Phe)
 ClinVar gnomAD v4
12g.114398611G>CCA386862023TBX5c.472C>G (p.Leu158Val)
c.322C>G (p.Leu108Val)
n.523C>G
c.520C>G (p.Leu174Val)
12g.114398611G>TCA386862024TBX5c.472C>A (p.Leu158Ile)
c.322C>A (p.Leu108Ile)
n.523C>A
c.520C>A (p.Leu174Ile)
12g.114398612T>ACA386862025TBX5c.471A>T (p.Lys157Asn)
c.321A>T (p.Lys107Asn)
n.522A>T
c.519A>T (p.Lys173Asn)
12g.114398612T>CCA6809603TBX5c.471A>G (p.Lys157=)
c.321A>G (p.Lys107=)
n.522A>G
c.519A>G (p.Lys173=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.114398612T>GCA386862026TBX5c.471A>C (p.Lys157Asn)
c.321A>C (p.Lys107Asn)
n.522A>C
c.519A>C (p.Lys173Asn)
12g.114398612T=CA2064649438TBX5c.471A= (p.Lys157=)
c.321A= (p.Lys107=)
n.522A=
c.519A= (p.Lys173=)
12g.114398613T>ACA386862029TBX5c.470A>T (p.Lys157Ile)
c.320A>T (p.Lys107Ile)
n.521A>T
c.518A>T (p.Lys173Ile)
12g.114398613T>CCA386862028TBX5c.470A>G (p.Lys157Arg)
c.320A>G (p.Lys107Arg)
n.521A>G
c.518A>G (p.Lys173Arg)
12g.114398613T>GCA386862027TBX5c.470A>C (p.Lys157Thr)
c.320A>C (p.Lys107Thr)
n.521A>C
c.518A>C (p.Lys173Thr)
12g.114398614T>ACA386862030TBX5c.469A>T (p.Lys157Ter)
c.319A>T (p.Lys107Ter)
n.520A>T
c.517A>T (p.Lys173Ter)
12g.114398614T>CCA386862031TBX5c.469A>G (p.Lys157Glu)
c.319A>G (p.Lys107Glu)
n.520A>G
c.517A>G (p.Lys173Glu)
12g.114398614T>GCA386862032TBX5c.469A>C (p.Lys157Gln)
c.319A>C (p.Lys107Gln)
n.520A>C
c.517A>C (p.Lys173Gln)
12g.114398615C>ACA386862033TBX5c.468G>T (p.Gln156His)
c.318G>T (p.Gln106His)
n.519G>T
c.516G>T (p.Gln172His)
12g.114398615C=CA2064649443TBX5c.468G= (p.Gln156=)
c.318G= (p.Gln106=)
n.519G=
c.516G= (p.Gln172=)
12g.114398615C>GCA386862034TBX5c.468G>C (p.Gln156His)
c.318G>C (p.Gln106His)
n.519G>C
c.516G>C (p.Gln172His)
 gnomAD v4
12g.114398615C>TCA481920477TBX5c.468G>A (p.Gln156=)
c.318G>A (p.Gln106=)
n.519G>A
c.516G>A (p.Gln172=)
 dbSNP gnomAD v4 COSMIC COSMIC
12g.114398616T>ACA6809604TBX5c.467A>T (p.Gln156Leu)
c.317A>T (p.Gln106Leu)
n.518A>T
c.515A>T (p.Gln172Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114398616T>CCA386862035TBX5c.467A>G (p.Gln156Arg)
c.317A>G (p.Gln106Arg)
n.518A>G
c.515A>G (p.Gln172Arg)
12g.114398616T>GCA386862036TBX5c.467A>C (p.Gln156Pro)
c.317A>C (p.Gln106Pro)
n.518A>C
c.515A>C (p.Gln172Pro)
12g.114398616T=CA2064649447TBX5c.467A= (p.Gln156=)
c.317A= (p.Gln106=)
n.518A=
c.515A= (p.Gln172=)
12g.114398616dupCA2695217402TBX5c.467dup (p.Lys157GlufsTer26)
c.317dup (p.Lys107GlufsTer26)
n.518dup
c.515dup (p.Lys173GlufsTer26)
12g.114398616_114398617delinsTGCA2064649450TBX5c.466_467delinsCA (p.Gln156=)
c.316_317delinsCA (p.Gln106=)
n.517_518delinsCA
c.514_515delinsCA (p.Gln172=)
12g.114398617G>ACA322981TBX5c.466C>T (p.Gln156Ter)
c.316C>T (p.Gln106Ter)
n.517C>T
c.514C>T (p.Gln172Ter)
 dbSNP
12g.114398617G>CCA386862037TBX5c.466C>G (p.Gln156Glu)
c.316C>G (p.Gln106Glu)
n.517C>G
c.514C>G (p.Gln172Glu)
12g.114398617G=CA2064649464TBX5c.466C= (p.Gln156=)
c.316C= (p.Gln106=)
n.517C=
c.514C= (p.Gln172=)
12g.114398617G>TCA386862038TBX5c.466C>A (p.Gln156Lys)
c.316C>A (p.Gln106Lys)
n.517C>A
c.514C>A (p.Gln172Lys)
12g.114398618delCA10603297TBX5c.466del (p.Gln156ArgfsTer18)
c.316del (p.Gln106ArgfsTer18)
n.517del
c.514del (p.Gln172ArgfsTer18)
 ClinVar dbSNP
12g.114398618G>ACA6809605TBX5c.465C>T (p.Phe155=)
c.315C>T (p.Phe105=)
n.516C>T
c.513C>T (p.Phe171=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.114398618G>CCA386862040TBX5c.465C>G (p.Phe155Leu)
c.315C>G (p.Phe105Leu)
n.516C>G
c.513C>G (p.Phe171Leu)
12g.114398618G=CA2064649473TBX5c.465C= (p.Phe155=)
c.315C= (p.Phe105=)
n.516C=
c.513C= (p.Phe171=)
12g.114398618G>TCA386862039TBX5c.465C>A (p.Phe155Leu)
c.315C>A (p.Phe105Leu)
n.516C>A
c.513C>A (p.Phe171Leu)
 COSMIC COSMIC
12g.114398618_114398637delCA2580085837TBX5c.446_465del (p.Met149ThrfsTer27)
c.296_315del (p.Met99ThrfsTer27)
n.497_516del
c.494_513del (p.Met165ThrfsTer27)
 ClinVar
12g.114398619A>CCA386862041TBX5c.464T>G (p.Phe155Cys)
c.314T>G (p.Phe105Cys)
n.515T>G
c.512T>G (p.Phe171Cys)
12g.114398619A>GCA386862042TBX5c.464T>C (p.Phe155Ser)
c.314T>C (p.Phe105Ser)
n.515T>C
c.512T>C (p.Phe171Ser)
 ClinVar
12g.114398619A>TCA386862043TBX5c.464T>A (p.Phe155Tyr)
c.314T>A (p.Phe105Tyr)
n.515T>A
c.512T>A (p.Phe171Tyr)
12g.114398620A>CCA386862044TBX5c.463T>G (p.Phe155Val)
c.313T>G (p.Phe105Val)
n.514T>G
c.511T>G (p.Phe171Val)
12g.114398620A>GCA386862045TBX5c.463T>C (p.Phe155Leu)
c.313T>C (p.Phe105Leu)
n.514T>C
c.511T>C (p.Phe171Leu)
12g.114398620A>TCA386862046TBX5c.463T>A (p.Phe155Ile)
c.313T>A (p.Phe105Ile)
n.514T>A
c.511T>A (p.Phe171Ile)
12g.114398621G>ACA481920478TBX5c.462C>T (p.Ser154=)
c.312C>T (p.Ser104=)
n.513C>T
c.510C>T (p.Ser170=)
12g.114398621G>CCA481920479TBX5c.462C>G (p.Ser154=)
c.312C>G (p.Ser104=)
n.513C>G
c.510C>G (p.Ser170=)
12g.114398621G=CA2064649478TBX5c.462C= (p.Ser154=)
c.312C= (p.Ser104=)
n.513C=
c.510C= (p.Ser170=)
12g.114398621G>TCA6809606TBX5c.462C>A (p.Ser154=)
c.312C>A (p.Ser104=)
n.513C>A
c.510C>A (p.Ser170=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114398622G>ACA386862047TBX5c.461C>T (p.Ser154Phe)
c.311C>T (p.Ser104Phe)
n.512C>T
c.509C>T (p.Ser170Phe)
 dbSNP
12g.114398622G>CCA386862048TBX5c.461C>G (p.Ser154Cys)
c.311C>G (p.Ser104Cys)
n.512C>G
c.509C>G (p.Ser170Cys)
 gnomAD v4
12g.114398622G=CA2064649479TBX5c.461C= (p.Ser154=)
c.311C= (p.Ser104=)
n.512C=
c.509C= (p.Ser170=)
12g.114398622G>TCA386862049TBX5c.461C>A (p.Ser154Tyr)
c.311C>A (p.Ser104Tyr)
n.512C>A
c.509C>A (p.Ser170Tyr)
12g.114398623A>CCA386862050TBX5c.460T>G (p.Ser154Ala)
c.310T>G (p.Ser104Ala)
n.511T>G
c.508T>G (p.Ser170Ala)
12g.114398623A>GCA386862051TBX5c.460T>C (p.Ser154Pro)
c.310T>C (p.Ser104Pro)
n.511T>C
c.508T>C (p.Ser170Pro)
12g.114398623A>TCA386862052TBX5c.460T>A (p.Ser154Thr)
c.310T>A (p.Ser104Thr)
n.511T>A
c.508T>A (p.Ser170Thr)
12g.114398624G>ACA481920480TBX5c.459C>T (p.Val153=)
c.309C>T (p.Val103=)
n.510C>T
c.507C>T (p.Val169=)
 dbSNP gnomAD v3 gnomAD v4
12g.114398624G>CCA481920481TBX5c.459C>G (p.Val153=)
c.309C>G (p.Val103=)
n.510C>G
c.507C>G (p.Val169=)
12g.114398624G=CA2064649482TBX5c.459C= (p.Val153=)
c.309C= (p.Val103=)
n.510C=
c.507C= (p.Val169=)
12g.114398624G>TCA481920482TBX5c.459C>A (p.Val153=)
c.309C>A (p.Val103=)
n.510C>A
c.507C>A (p.Val169=)
12g.114398625A=CA2064649489TBX5c.458T= (p.Val153=)
c.308T= (p.Val103=)
n.509T=
c.506T= (p.Val169=)
12g.114398625A>CCA386862053TBX5c.458T>G (p.Val153Gly)
c.308T>G (p.Val103Gly)
n.509T>G
c.506T>G (p.Val169Gly)
12g.114398625A>GCA386862054TBX5c.458T>C (p.Val153Ala)
c.308T>C (p.Val103Ala)
n.509T>C
c.506T>C (p.Val169Ala)
12g.114398625A>TCA6809607TBX5c.458T>A (p.Val153Asp)
c.308T>A (p.Val103Asp)
n.509T>A
c.506T>A (p.Val169Asp)
 dbSNP ExAC gnomAD v4
12g.114398626C>ACA386862055TBX5c.457G>T (p.Val153Phe)
c.307G>T (p.Val103Phe)
n.508G>T
c.505G>T (p.Val169Phe)
 gnomAD v4
12g.114398626C=CA2064649499TBX5c.457G= (p.Val153=)
c.307G= (p.Val103=)
n.508G=
c.505G= (p.Val169=)
12g.114398626C>GCA386862056TBX5c.457G>C (p.Val153Leu)
c.307G>C (p.Val103Leu)
n.508G>C
c.505G>C (p.Val169Leu)
12g.114398626C>TCA244127891TBX5c.457G>A (p.Val153Ile)
c.307G>A (p.Val103Ile)
n.508G>A
c.505G>A (p.Val169Ile)
 dbSNP gnomAD v4
12g.114398626dupCA913191202TBX5c.457dup (p.Val153GlyfsTer30)
c.307dup (p.Val103GlyfsTer30)
n.508dup
c.505dup (p.Val169GlyfsTer30)
 ClinVar
12g.114398626_114398627delinsCGCA2064649503TBX5c.456_457delinsCG (p.Leu152=)
c.306_307delinsCG (p.Leu102=)
n.507_508delinsCG
c.504_505delinsCG (p.Leu168=)
12g.114398627delCA16603272TBX5c.456del (p.Val153SerfsTer21)
c.306del (p.Val103SerfsTer21)
n.507del
c.504del (p.Val169SerfsTer21)
 ClinVar dbSNP
12g.114398627G>ACA6809608TBX5c.456C>T (p.Leu152=)
c.306C>T (p.Leu102=)
n.507C>T
c.504C>T (p.Leu168=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114398627G>CCA481920483TBX5c.456C>G (p.Leu152=)
c.306C>G (p.Leu102=)
n.507C>G
c.504C>G (p.Leu168=)
 dbSNP gnomAD v4
12g.114398627G=CA2064649518TBX5c.456C= (p.Leu152=)
c.306C= (p.Leu102=)
n.507C=
c.504C= (p.Leu168=)
12g.114398627G>TCA481920484TBX5c.456C>A (p.Leu152=)
c.306C>A (p.Leu102=)
n.507C>A
c.504C>A (p.Leu168=)
12g.114398628A=CA2064649538TBX5c.455T= (p.Leu152=)
c.305T= (p.Leu102=)
n.506T=
c.503T= (p.Leu168=)
12g.114398628A>CCA386862057TBX5c.455T>G (p.Leu152Arg)
c.305T>G (p.Leu102Arg)
n.506T>G
c.503T>G (p.Leu168Arg)
12g.114398628A>GCA386862058TBX5c.455T>C (p.Leu152Pro)
c.305T>C (p.Leu102Pro)
n.506T>C
c.503T>C (p.Leu168Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.114398628A>TCA386862059TBX5c.455T>A (p.Leu152His)
c.305T>A (p.Leu102His)
n.506T>A
c.503T>A (p.Leu168His)
12g.114398629G>ACA386862060TBX5c.454C>T (p.Leu152Phe)
c.304C>T (p.Leu102Phe)
n.505C>T
c.502C>T (p.Leu168Phe)
12g.114398629G>CCA386862062TBX5c.454C>G (p.Leu152Val)
c.304C>G (p.Leu102Val)
n.505C>G
c.502C>G (p.Leu168Val)
 ClinVar dbSNP gnomAD v4
12g.114398629G>TCA386862061TBX5c.454C>A (p.Leu152Ile)
c.304C>A (p.Leu102Ile)
n.505C>A
c.502C>A (p.Leu168Ile)
12g.114398630C>ACA386862063TBX5c.453G>T (p.Gln151His)
c.303G>T (p.Gln101His)
n.504G>T
c.501G>T (p.Gln167His)
 gnomAD v4
12g.114398630C=CA2064649544TBX5c.453G= (p.Gln151=)
c.303G= (p.Gln101=)
n.504G=
c.501G= (p.Gln167=)
12g.114398630C>GCA386862064TBX5c.453G>C (p.Gln151His)
c.303G>C (p.Gln101His)
n.504G>C
c.501G>C (p.Gln167His)
12g.114398630C>TCA481920485TBX5c.453G>A (p.Gln151=)
c.303G>A (p.Gln101=)
n.504G>A
c.501G>A (p.Gln167=)
 dbSNP gnomAD v2 gnomAD v4
12g.114398631T>ACA386862065TBX5c.452A>T (p.Gln151Leu)
c.302A>T (p.Gln101Leu)
n.503A>T
c.500A>T (p.Gln167Leu)
12g.114398631T>CCA386862066TBX5c.452A>G (p.Gln151Arg)
c.302A>G (p.Gln101Arg)
n.503A>G
c.500A>G (p.Gln167Arg)
12g.114398631T>GCA386862067TBX5c.452A>C (p.Gln151Pro)
c.302A>C (p.Gln101Pro)
n.503A>C
c.500A>C (p.Gln167Pro)
12g.114398632G>ACA386862068TBX5c.451C>T (p.Gln151Ter)
c.301C>T (p.Gln101Ter)
n.502C>T
c.499C>T (p.Gln167Ter)
12g.114398632G>CCA386862070TBX5c.451C>G (p.Gln151Glu)
c.301C>G (p.Gln101Glu)
n.502C>G
c.499C>G (p.Gln167Glu)
 ClinVar
12g.114398632G>TCA386862069TBX5c.451C>A (p.Gln151Lys)
c.301C>A (p.Gln101Lys)
n.502C>A
c.499C>A (p.Gln167Lys)
12g.114398633C>ACA6809609TBX5c.450G>T (p.Arg150Ser)
c.300G>T (p.Arg100Ser)
n.501G>T
c.498G>T (p.Arg166Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.114398633C=CA2064649552TBX5c.450G= (p.Arg150=)
c.300G= (p.Arg100=)
n.501G=
c.498G= (p.Arg166=)
12g.114398633C>GCA386862071TBX5c.450G>C (p.Arg150Ser)
c.300G>C (p.Arg100Ser)
n.501G>C
c.498G>C (p.Arg166Ser)
12g.114398633C>TCA481920486TBX5c.450G>A (p.Arg150=)
c.300G>A (p.Arg100=)
n.501G>A
c.498G>A (p.Arg166=)
 gnomAD v4
12g.114398634C>ACA386862072TBX5c.449G>T (p.Arg150Met)
c.299G>T (p.Arg100Met)
n.500G>T
c.497G>T (p.Arg166Met)
12g.114398634C>GCA386862073TBX5c.449G>C (p.Arg150Thr)
c.299G>C (p.Arg100Thr)
n.500G>C
c.497G>C (p.Arg166Thr)
12g.114398634C>TCA386862074TBX5c.449G>A (p.Arg150Lys)
c.299G>A (p.Arg100Lys)
n.500G>A
c.497G>A (p.Arg166Lys)
 gnomAD v4
12g.114398635T>ACA386862075TBX5c.448A>T (p.Arg150Trp)
c.298A>T (p.Arg100Trp)
n.499A>T
c.496A>T (p.Arg166Trp)
12g.114398635T>CCA386862076TBX5c.448A>G (p.Arg150Gly)
c.298A>G (p.Arg100Gly)
n.499A>G
c.496A>G (p.Arg166Gly)
12g.114398635T>GCA481920487TBX5c.448A>C (p.Arg150=)
c.298A>C (p.Arg100=)
n.499A>C
c.496A>C (p.Arg166=)
12g.114398636C>ACA386862077TBX5c.447G>T (p.Met149Ile)
c.297G>T (p.Met99Ile)
n.498G>T
c.495G>T (p.Met165Ile)
12g.114398636C>GCA386862078TBX5c.447G>C (p.Met149Ile)
c.297G>C (p.Met99Ile)
n.498G>C
c.495G>C (p.Met165Ile)
12g.114398636C>TCA386862079TBX5c.447G>A (p.Met149Ile)
c.297G>A (p.Met99Ile)
n.498G>A
c.495G>A (p.Met165Ile)
 COSMIC COSMIC
12g.114398637A>CCA386862080TBX5c.446T>G (p.Met149Arg)
c.296T>G (p.Met99Arg)
n.497T>G
c.494T>G (p.Met165Arg)
12g.114398637A>GCA386862081TBX5c.446T>C (p.Met149Thr)
c.296T>C (p.Met99Thr)
n.497T>C
c.494T>C (p.Met165Thr)
12g.114398637A>TCA386862082TBX5c.446T>A (p.Met149Lys)
c.296T>A (p.Met99Lys)
n.497T>A
c.494T>A (p.Met165Lys)
12g.114398638T>ACA386862083TBX5c.445A>T (p.Met149Leu)
c.295A>T (p.Met99Leu)
n.496A>T
c.493A>T (p.Met165Leu)
 gnomAD v4
12g.114398638T>CCA386862085TBX5c.445A>G (p.Met149Val)
c.295A>G (p.Met99Val)
n.496A>G
c.493A>G (p.Met165Val)
12g.114398638T>GCA386862084TBX5c.445A>C (p.Met149Leu)
c.295A>C (p.Met99Leu)
n.496A>C
c.493A>C (p.Met165Leu)
12g.114398639C>ACA386862086TBX5c.444G>T (p.Trp148Cys)
c.294G>T (p.Trp98Cys)
n.495G>T
c.492G>T (p.Trp164Cys)
12g.114398639C=CA2064649577TBX5c.444G= (p.Trp148=)
c.294G= (p.Trp98=)
n.495G=
c.492G= (p.Trp164=)
12g.114398639C>GCA386862087TBX5c.444G>C (p.Trp148Cys)
c.294G>C (p.Trp98Cys)
n.495G>C
c.492G>C (p.Trp164Cys)
12g.114398639C>TCA386862088TBX5c.444G>A (p.Trp148Ter)
c.294G>A (p.Trp98Ter)
n.495G>A
c.492G>A (p.Trp164Ter)
 ClinVar dbSNP
12g.114398639_114398662delinsCCAATGCGCCCCGGTGGCGGGGGACA2064649572TBX5c.421_444delinsTCCCCCGCCACCGGGGCGCATTGG (p.Ser141=)
c.271_294delinsTCCCCCGCCACCGGGGCGCATTGG (p.Ser91=)
n.472_495delinsTCCCCCGCCACCGGGGCGCATTGG
c.469_492delinsTCCCCCGCCACCGGGGCGCATTGG (p.Ser157=)
12g.114398640C>ACA386862089TBX5c.443G>T (p.Trp148Leu)
c.293G>T (p.Trp98Leu)
n.494G>T
c.491G>T (p.Trp164Leu)
12g.114398640C=CA2064649588TBX5c.443G= (p.Trp148=)
c.293G= (p.Trp98=)
n.494G=
c.491G= (p.Trp164=)
12g.114398640C>GCA386862090TBX5c.443G>C (p.Trp148Ser)
c.293G>C (p.Trp98Ser)
n.494G>C
c.491G>C (p.Trp164Ser)
12g.114398640C>TCA16613732TBX5c.443G>A (p.Trp148Ter)
c.293G>A (p.Trp98Ter)
n.494G>A
c.491G>A (p.Trp164Ter)
 ClinVar dbSNP
12g.114398640_114398662delinsTCCTGGCA324506TBX5c.421_443delinsCCAGGA (p.Ser141ProfsTer?)
c.271_293delinsCCAGGA (p.Ser91ProfsTer?)
n.472_494delinsCCAGGA
c.469_491delinsCCAGGA (p.Ser157ProfsTer?)
 ClinVar dbSNP
12g.114398641A>CCA386862093TBX5c.442T>G (p.Trp148Gly)
c.292T>G (p.Trp98Gly)
n.493T>G
c.490T>G (p.Trp164Gly)
12g.114398641A>GCA386862091TBX5c.442T>C (p.Trp148Arg)
c.292T>C (p.Trp98Arg)
n.493T>C
c.490T>C (p.Trp164Arg)
12g.114398641A>TCA386862092TBX5c.442T>A (p.Trp148Arg)
c.292T>A (p.Trp98Arg)
n.493T>A
c.490T>A (p.Trp164Arg)
12g.114398642A>CCA386862094TBX5c.441T>G (p.His147Gln)
c.291T>G (p.His97Gln)
n.492T>G
c.489T>G (p.His163Gln)
12g.114398642A>GCA481920488TBX5c.441T>C (p.His147=)
c.291T>C (p.His97=)
n.492T>C
c.489T>C (p.His163=)
 gnomAD v4
12g.114398642A>TCA386862095TBX5c.441T>A (p.His147Gln)
c.291T>A (p.His97Gln)
n.492T>A
c.489T>A (p.His163Gln)
12g.114398643T>ACA386862096TBX5c.440A>T (p.His147Leu)
c.290A>T (p.His97Leu)
n.491A>T
c.488A>T (p.His163Leu)
 gnomAD v4
12g.114398643T>CCA6809610TBX5c.440A>G (p.His147Arg)
c.290A>G (p.His97Arg)
n.491A>G
c.488A>G (p.His163Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.114398643T>GCA386862097TBX5c.440A>C (p.His147Pro)
c.290A>C (p.His97Pro)
n.491A>C
c.488A>C (p.His163Pro)
12g.114398643T=CA2064649603TBX5c.440A= (p.His147=)
c.290A= (p.His97=)
n.491A=
c.488A= (p.His163=)
12g.114398644G>ACA386862098TBX5c.439C>T (p.His147Tyr)
c.289C>T (p.His97Tyr)
n.490C>T
c.487C>T (p.His163Tyr)
 gnomAD v4
12g.114398644G>CCA386862100TBX5c.439C>G (p.His147Asp)
c.289C>G (p.His97Asp)
n.490C>G
c.487C>G (p.His163Asp)
12g.114398644G>TCA386862099TBX5c.439C>A (p.His147Asn)
c.289C>A (p.His97Asn)
n.490C>A
c.487C>A (p.His163Asn)
 gnomAD v4
12g.114398645C>ACA244127912TBX5c.438G>T (p.Ala146=)
c.288G>T (p.Ala96=)
n.489G>T
c.486G>T (p.Ala162=)
 dbSNP gnomAD v2 gnomAD v4
12g.114398645C=CA2064649605TBX5c.438G= (p.Ala146=)
c.288G= (p.Ala96=)
n.489G=
c.486G= (p.Ala162=)
12g.114398645C>GCA6809611TBX5c.438G>C (p.Ala146=)
c.288G>C (p.Ala96=)
n.489G>C
c.486G>C (p.Ala162=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.114398645C>TCA481920489TBX5c.438G>A (p.Ala146=)
c.288G>A (p.Ala96=)
n.489G>A
c.486G>A (p.Ala162=)
 gnomAD v4 COSMIC COSMIC
12g.114398646G>ACA386862101TBX5c.437C>T (p.Ala146Val)
c.287C>T (p.Ala96Val)
n.488C>T
c.485C>T (p.Ala162Val)
12g.114398646G>CCA386862102TBX5c.437C>G (p.Ala146Gly)
c.287C>G (p.Ala96Gly)
n.488C>G
c.485C>G (p.Ala162Gly)
12g.114398646G=CA2064649618TBX5c.437C= (p.Ala146=)
c.287C= (p.Ala96=)
n.488C=
c.485C= (p.Ala162=)
12g.114398646G>TCA244127916TBX5c.437C>A (p.Ala146Glu)
c.287C>A (p.Ala96Glu)
n.488C>A
c.485C>A (p.Ala162Glu)
 dbSNP
12g.114398647C>ACA386862103TBX5c.436G>T (p.Ala146Ser)
c.286G>T (p.Ala96Ser)
n.487G>T
c.484G>T (p.Ala162Ser)
12g.114398647C=CA2064649626TBX5c.436G= (p.Ala146=)
c.286G= (p.Ala96=)
n.487G=
c.484G= (p.Ala162=)
12g.114398647C>GCA386862104TBX5c.436G>C (p.Ala146Pro)
c.286G>C (p.Ala96Pro)
n.487G>C
c.484G>C (p.Ala162Pro)
 dbSNP gnomAD v2 gnomAD v4
12g.114398647C>TCA386862105TBX5c.436G>A (p.Ala146Thr)
c.286G>A (p.Ala96Thr)
n.487G>A
c.484G>A (p.Ala162Thr)
12g.114398650delCA2573334465TBX5c.436del (p.Ala146ArgfsTer4)
c.286del (p.Ala96ArgfsTer4)
n.487del
c.484del (p.Ala162ArgfsTer4)
 ClinVar
12g.114398648C>ACA481920490TBX5c.435G>T (p.Gly145=)
c.285G>T (p.Gly95=)
n.486G>T
c.483G>T (p.Gly161=)
12g.114398648C=CA2064649629TBX5c.435G= (p.Gly145=)
c.285G= (p.Gly95=)
n.486G=
c.483G= (p.Gly161=)
12g.114398648C>GCA481920491TBX5c.435G>C (p.Gly145=)
c.285G>C (p.Gly95=)
n.486G>C
c.483G>C (p.Gly161=)
12g.114398648C>TCA6809612TBX5c.435G>A (p.Gly145=)
c.285G>A (p.Gly95=)
n.486G>A
c.483G>A (p.Gly161=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.114398649C>ACA386862106TBX5c.434G>T (p.Gly145Val)
c.284G>T (p.Gly95Val)
n.485G>T
c.482G>T (p.Gly161Val)
12g.114398649C>GCA386862107TBX5c.434G>C (p.Gly145Ala)
c.284G>C (p.Gly95Ala)
n.485G>C
c.482G>C (p.Gly161Ala)
 gnomAD v4
12g.114398649C>TCA386862108TBX5c.434G>A (p.Gly145Glu)
c.284G>A (p.Gly95Glu)
n.485G>A
c.482G>A (p.Gly161Glu)
12g.114398650C>ACA320659TBX5c.433G>T (p.Gly145Trp)
c.283G>T (p.Gly95Trp)
n.484G>T
c.481G>T (p.Gly161Trp)
 dbSNP
12g.114398650C=CA2064649634TBX5c.433G= (p.Gly145=)
c.283G= (p.Gly95=)
n.484G=
c.481G= (p.Gly161=)
12g.114398650C>GCA386862110TBX5c.433G>C (p.Gly145Arg)
c.283G>C (p.Gly95Arg)
n.484G>C
c.481G>C (p.Gly161Arg)
 gnomAD v4
12g.114398650C>TCA386862109TBX5c.433G>A (p.Gly145Arg)
c.283G>A (p.Gly95Arg)
n.484G>A
c.481G>A (p.Gly161Arg)
 ClinVar dbSNP gnomAD v4
12g.114398650_114398663delinsCGGTGGCGGGGGAGCA2064649636TBX5c.420_433delinsCTCCCCCGCCACCG (p.Asp140=)
c.270_283delinsCTCCCCCGCCACCG (p.Asp90=)
n.471_484delinsCTCCCCCGCCACCG
c.468_481delinsCTCCCCCGCCACCG (p.Asp156=)
12g.114398651G>ACA6809614TBX5c.432C>T (p.Thr144=)
c.282C>T (p.Thr94=)
n.483C>T
c.480C>T (p.Thr160=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114398651G>CCA481920492TBX5c.432C>G (p.Thr144=)
c.282C>G (p.Thr94=)
n.483C>G
c.480C>G (p.Thr160=)
 gnomAD v4
12g.114398651G=CA2064649662TBX5c.432C= (p.Thr144=)
c.282C= (p.Thr94=)
n.483C=
c.480C= (p.Thr160=)
12g.114398651G>TCA6809613TBX5c.432C>A (p.Thr144=)
c.282C>A (p.Thr94=)
n.483C>A
c.480C>A (p.Thr160=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114398652dupCA658797966TBX5c.432dup (p.Gly145ArgfsTer?)
c.282dup (p.Gly95ArgfsTer?)
n.483dup
c.480dup (p.Gly161ArgfsTer?)
 ClinVar dbSNP
12g.114398651_114398663delCA322170TBX5c.420_432del (p.Asp140GlufsTer6)
c.270_282del (p.Asp90GlufsTer6)
n.471_483del
c.468_480del (p.Asp156GlufsTer6)
 ClinVar dbSNP
12g.114398652G>ACA386862111TBX5c.431C>T (p.Thr144Ile)
c.281C>T (p.Thr94Ile)
n.482C>T
c.479C>T (p.Thr160Ile)
12g.114398652G>CCA386862112TBX5c.431C>G (p.Thr144Ser)
c.281C>G (p.Thr94Ser)
n.482C>G
c.479C>G (p.Thr160Ser)
 gnomAD v4
12g.114398652G>TCA386862113TBX5c.431C>A (p.Thr144Asn)
c.281C>A (p.Thr94Asn)
n.482C>A
c.479C>A (p.Thr160Asn)
12g.114398653T>ACA386862114TBX5c.430A>T (p.Thr144Ser)
c.280A>T (p.Thr94Ser)
n.481A>T
c.478A>T (p.Thr160Ser)
 gnomAD v4
12g.114398653T>CCA386862115TBX5c.430A>G (p.Thr144Ala)
c.280A>G (p.Thr94Ala)
n.481A>G
c.478A>G (p.Thr160Ala)
12g.114398653T>GCA386862116TBX5c.430A>C (p.Thr144Pro)
c.280A>C (p.Thr94Pro)
n.481A>C
c.478A>C (p.Thr160Pro)
12g.114398654G>ACA481920495TBX5c.429C>T (p.Ala143=)
c.279C>T (p.Ala93=)
n.480C>T
c.477C>T (p.Ala159=)
 dbSNP gnomAD v2
12g.114398654G>CCA481920494TBX5c.429C>G (p.Ala143=)
c.279C>G (p.Ala93=)
n.480C>G
c.477C>G (p.Ala159=)
12g.114398654G=CA2064649670TBX5c.429C= (p.Ala143=)
c.279C= (p.Ala93=)
n.480C=
c.477C= (p.Ala159=)
12g.114398654G>TCA481920493TBX5c.429C>A (p.Ala143=)
c.279C>A (p.Ala93=)
n.480C>A
c.477C>A (p.Ala159=)
12g.114398655G>ACA386862117TBX5c.428C>T (p.Ala143Val)
c.278C>T (p.Ala93Val)
n.479C>T
c.476C>T (p.Ala159Val)
 dbSNP gnomAD v3 gnomAD v4
12g.114398655G>CCA386862118TBX5c.428C>G (p.Ala143Gly)
c.278C>G (p.Ala93Gly)
n.479C>G
c.476C>G (p.Ala159Gly)
12g.114398655G=CA2064649673TBX5c.428C= (p.Ala143=)
c.278C= (p.Ala93=)
n.479C=
c.476C= (p.Ala159=)
12g.114398655G>TCA386862119TBX5c.428C>A (p.Ala143Asp)
c.278C>A (p.Ala93Asp)
n.479C>A
c.476C>A (p.Ala159Asp)
12g.114398656C>ACA386862120TBX5c.427G>T (p.Ala143Ser)
c.277G>T (p.Ala93Ser)
n.478G>T
c.475G>T (p.Ala159Ser)
12g.114398656C=CA2064649676TBX5c.427G= (p.Ala143=)
c.277G= (p.Ala93=)
n.478G=
c.475G= (p.Ala159=)
12g.114398656C>GCA386862121TBX5c.427G>C (p.Ala143Pro)
c.277G>C (p.Ala93Pro)
n.478G>C
c.475G>C (p.Ala159Pro)
12g.114398656C>TCA244127960TBX5c.427G>A (p.Ala143Thr)
c.277G>A (p.Ala93Thr)
n.478G>A
c.475G>A (p.Ala159Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.114398657G>ACA481920496TBX5c.426C>T (p.Pro142=)
c.276C>T (p.Pro92=)
n.477C>T
c.474C>T (p.Pro158=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.114398657G>CCA481920498TBX5c.426C>G (p.Pro142=)
c.276C>G (p.Pro92=)
n.477C>G
c.474C>G (p.Pro158=)
 gnomAD v4
12g.114398657G=CA2064649682TBX5c.426C= (p.Pro142=)
c.276C= (p.Pro92=)
n.477C=
c.474C= (p.Pro158=)
12g.114398657G>TCA481920497TBX5c.426C>A (p.Pro142=)
c.276C>A (p.Pro92=)
n.477C>A
c.474C>A (p.Pro158=)
12g.114398661dupCA2695217403TBX5c.426dup (p.Ala143ArgfsTer?)
c.276dup (p.Ala93ArgfsTer?)
n.477dup
c.474dup (p.Ala159ArgfsTer?)
12g.114398661delCA913191203TBX5c.426del (p.Ala143ProfsTer7)
c.276del (p.Ala93ProfsTer7)
n.477del
c.474del (p.Ala159ProfsTer7)
 ClinVar
12g.114398658G>ACA386862124TBX5c.425C>T (p.Pro142Leu)
c.275C>T (p.Pro92Leu)
n.476C>T
c.473C>T (p.Pro158Leu)
12g.114398658G>CCA386862122TBX5c.425C>G (p.Pro142Arg)
c.275C>G (p.Pro92Arg)
n.476C>G
c.473C>G (p.Pro158Arg)
12g.114398658G>TCA386862123TBX5c.425C>A (p.Pro142His)
c.275C>A (p.Pro92His)
n.476C>A
c.473C>A (p.Pro158His)
12g.114398659G>ACA386862125TBX5c.424C>T (p.Pro142Ser)
c.274C>T (p.Pro92Ser)
n.475C>T
c.472C>T (p.Pro158Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114398659G>CCA386862126TBX5c.424C>G (p.Pro142Ala)
c.274C>G (p.Pro92Ala)
n.475C>G
c.472C>G (p.Pro158Ala)
12g.114398659G=CA2064649687TBX5c.424C= (p.Pro142=)
c.274C= (p.Pro92=)
n.475C=
c.472C= (p.Pro158=)
12g.114398659G>TCA386862127TBX5c.424C>A (p.Pro142Thr)
c.274C>A (p.Pro92Thr)
n.475C>A
c.472C>A (p.Pro158Thr)
12g.114398660G>ACA481920499TBX5c.423C>T (p.Ser141=)
c.273C>T (p.Ser91=)
n.474C>T
c.471C>T (p.Ser157=)
12g.114398660G>CCA481920500TBX5c.423C>G (p.Ser141=)
c.273C>G (p.Ser91=)
n.474C>G
c.471C>G (p.Ser157=)
12g.114398660G>TCA481920501TBX5c.423C>A (p.Ser141=)
c.273C>A (p.Ser91=)
n.474C>A
c.471C>A (p.Ser157=)
12g.114398661G>ACA386862128TBX5c.422C>T (p.Ser141Phe)
c.272C>T (p.Ser91Phe)
n.473C>T
c.470C>T (p.Ser157Phe)
12g.114398661G>CCA386862129TBX5c.422C>G (p.Ser141Cys)
c.272C>G (p.Ser91Cys)
n.473C>G
c.470C>G (p.Ser157Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.114398661G=CA2064649688TBX5c.422C= (p.Ser141=)
c.272C= (p.Ser91=)
n.473C=
c.470C= (p.Ser157=)
12g.114398661G>TCA386862130TBX5c.422C>A (p.Ser141Tyr)
c.272C>A (p.Ser91Tyr)
n.473C>A
c.470C>A (p.Ser157Tyr)
 ClinVar dbSNP gnomAD v4
12g.114398662A>CCA386862131TBX5c.421T>G (p.Ser141Ala)
c.271T>G (p.Ser91Ala)
n.472T>G
c.469T>G (p.Ser157Ala)
12g.114398662A>GCA386862132TBX5c.421T>C (p.Ser141Pro)
c.271T>C (p.Ser91Pro)
n.472T>C
c.469T>C (p.Ser157Pro)
12g.114398662A>TCA386862133TBX5c.421T>A (p.Ser141Thr)
c.271T>A (p.Ser91Thr)
n.472T>A
c.469T>A (p.Ser157Thr)
12g.114398663G>ACA481920502TBX5c.420C>T (p.Asp140=)
c.270C>T (p.Asp90=)
n.471C>T
c.468C>T (p.Asp156=)
 dbSNP
12g.114398663G>CCA6809615TBX5c.420C>G (p.Asp140Glu)
c.270C>G (p.Asp90Glu)
n.471C>G
c.468C>G (p.Asp156Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114398663G=CA2064649691TBX5c.420C= (p.Asp140=)
c.270C= (p.Asp90=)
n.471C=
c.468C= (p.Asp156=)
12g.114398663G>TCA386862134TBX5c.420C>A (p.Asp140Glu)
c.270C>A (p.Asp90Glu)
n.471C>A
c.468C>A (p.Asp156Glu)
 gnomAD v4
12g.114398664T>ACA386862137TBX5c.419A>T (p.Asp140Val)
c.269A>T (p.Asp90Val)
n.470A>T
c.467A>T (p.Asp156Val)
12g.114398664T>CCA386862136TBX5c.419A>G (p.Asp140Gly)
c.269A>G (p.Asp90Gly)
n.470A>G
c.467A>G (p.Asp156Gly)
 gnomAD v4
12g.114398664T>GCA386862135TBX5c.419A>C (p.Asp140Ala)
c.269A>C (p.Asp90Ala)
n.470A>C
c.467A>C (p.Asp156Ala)
 dbSNP
12g.114398664T=CA2064649696TBX5c.419A= (p.Asp140=)
c.269A= (p.Asp90=)
n.470A=
c.467A= (p.Asp156=)
12g.114398665C>ACA386862138TBX5c.418G>T (p.Asp140Tyr)
c.268G>T (p.Asp90Tyr)
n.469G>T
c.466G>T (p.Asp156Tyr)
12g.114398665C>GCA386862139TBX5c.418G>C (p.Asp140His)
c.268G>C (p.Asp90His)
n.469G>C
c.466G>C (p.Asp156His)
12g.114398665C>TCA386862140TBX5c.418G>A (p.Asp140Asn)
c.268G>A (p.Asp90Asn)
n.469G>A
c.466G>A (p.Asp156Asn)
12g.114398666T>ACA481920503TBX5c.417A>T (p.Pro139=)
c.267A>T (p.Pro89=)
n.468A>T
c.465A>T (p.Pro155=)
12g.114398666T>CCA481920504TBX5c.417A>G (p.Pro139=)
c.267A>G (p.Pro89=)
n.468A>G
c.465A>G (p.Pro155=)
12g.114398666T>GCA481920505TBX5c.417A>C (p.Pro139=)
c.267A>C (p.Pro89=)
n.468A>C
c.465A>C (p.Pro155=)
12g.114398666_114398667delinsTGCA2064649698TBX5c.416_417delinsCA (p.Pro139=)
c.266_267delinsCA (p.Pro89=)
n.467_468delinsCA
c.464_465delinsCA (p.Pro155=)
12g.114398667G>ACA386862141TBX5c.416C>T (p.Pro139Leu)
c.266C>T (p.Pro89Leu)
n.467C>T
c.464C>T (p.Pro155Leu)
 gnomAD v4
12g.114398667G>CCA386862142TBX5c.416C>G (p.Pro139Arg)
c.266C>G (p.Pro89Arg)
n.467C>G
c.464C>G (p.Pro155Arg)
12g.114398667G>TCA386862143TBX5c.416C>A (p.Pro139Gln)
c.266C>A (p.Pro89Gln)
n.467C>A
c.464C>A (p.Pro155Gln)
12g.114398669delCA913184829TBX5c.416del (p.Pro139GlnfsTer11)
c.266del (p.Pro89GlnfsTer11)
n.467del
c.464del (p.Pro155GlnfsTer11)
 ClinVar dbSNP
12g.114398668G>ACA386862146TBX5c.415C>T (p.Pro139Ser)
c.265C>T (p.Pro89Ser)
n.466C>T
c.463C>T (p.Pro155Ser)
12g.114398668G>CCA386862144TBX5c.415C>G (p.Pro139Ala)
c.265C>G (p.Pro89Ala)
n.466C>G
c.463C>G (p.Pro155Ala)
 COSMIC COSMIC
12g.114398668G=CA2064649710TBX5c.415C= (p.Pro139=)
c.265C= (p.Pro89=)
n.466C=
c.463C= (p.Pro155=)
12g.114398668G>TCA386862145TBX5c.415C>A (p.Pro139Thr)
c.265C>A (p.Pro89Thr)
n.466C>A
c.463C>A (p.Pro155Thr)
 dbSNP
12g.114398669G>ACA481920506TBX5c.414C>T (p.His138=)
c.264C>T (p.His88=)
n.465C>T
c.462C>T (p.His154=)
 gnomAD v4
12g.114398669G>CCA386862147TBX5c.414C>G (p.His138Gln)
c.264C>G (p.His88Gln)
n.465C>G
c.462C>G (p.His154Gln)
12g.114398669G>TCA386862148TBX5c.414C>A (p.His138Gln)
c.264C>A (p.His88Gln)
n.465C>A
c.462C>A (p.His154Gln)
12g.114398670T>ACA386862149TBX5c.413A>T (p.His138Leu)
c.263A>T (p.His88Leu)
n.464A>T
c.461A>T (p.His154Leu)
12g.114398670T>CCA386862150TBX5c.413A>G (p.His138Arg)
c.263A>G (p.His88Arg)
n.464A>G
c.461A>G (p.His154Arg)
12g.114398670T>GCA386862151TBX5c.413A>C (p.His138Pro)
c.263A>C (p.His88Pro)
n.464A>C
c.461A>C (p.His154Pro)
12g.114398671G>ACA386862152TBX5c.412C>T (p.His138Tyr)
c.262C>T (p.His88Tyr)
n.463C>T
c.460C>T (p.His154Tyr)
 gnomAD v4
12g.114398671G>CCA386862154TBX5c.412C>G (p.His138Asp)
c.262C>G (p.His88Asp)
n.463C>G
c.460C>G (p.His154Asp)
12g.114398671G>TCA386862153TBX5c.412C>A (p.His138Asn)
c.262C>A (p.His88Asn)
n.463C>A
c.460C>A (p.His154Asn)
12g.114398672C>ACA481920507TBX5c.411G>T (p.Val137=)
c.261G>T (p.Val87=)
n.462G>T
c.459G>T (p.Val153=)
12g.114398672C>GCA481920508TBX5c.411G>C (p.Val137=)
c.261G>C (p.Val87=)
n.462G>C
c.459G>C (p.Val153=)
12g.114398672C>TCA481920509TBX5c.411G>A (p.Val137=)
c.261G>A (p.Val87=)
n.462G>A
c.459G>A (p.Val153=)
12g.114398673A=CA2064649716TBX5c.410T= (p.Val137=)
c.260T= (p.Val87=)
n.461T=
c.458T= (p.Val153=)
12g.114398673A>CCA386862155TBX5c.410T>G (p.Val137Gly)
c.260T>G (p.Val87Gly)
n.461T>G
c.458T>G (p.Val153Gly)
12g.114398673A>GCA386862156TBX5c.410T>C (p.Val137Ala)
c.260T>C (p.Val87Ala)
n.461T>C
c.458T>C (p.Val153Ala)
 dbSNP gnomAD v2 gnomAD v4
12g.114398673A>TCA386862157TBX5c.410T>A (p.Val137Glu)
c.260T>A (p.Val87Glu)
n.461T>A
c.458T>A (p.Val153Glu)
12g.114398674C>ACA386862158TBX5c.409G>T (p.Val137Leu)
c.259G>T (p.Val87Leu)
n.460G>T
c.457G>T (p.Val153Leu)
12g.114398674C=CA2064649719TBX5c.409G= (p.Val137=)
c.259G= (p.Val87=)
n.460G=
c.457G= (p.Val153=)
12g.114398674C>GCA386862159TBX5c.409G>C (p.Val137Leu)
c.259G>C (p.Val87Leu)
n.460G>C
c.457G>C (p.Val153Leu)
 gnomAD v4
12g.114398674C>TCA6809616TBX5c.409G>A (p.Val137Met)
c.259G>A (p.Val87Met)
n.460G>A
c.457G>A (p.Val153Met)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.114398675G>ACA244127973TBX5c.408C>T (p.Tyr136=)
c.258C>T (p.Tyr86=)
n.459C>T
c.456C>T (p.Tyr152=)
 ClinVar dbSNP gnomAD v4
12g.114398675G>CCA386862160TBX5c.408C>G (p.Tyr136Ter)
c.258C>G (p.Tyr86Ter)
n.459C>G
c.456C>G (p.Tyr152Ter)
 ClinVar dbSNP
12g.114398675G=CA2064649734TBX5c.408C= (p.Tyr136=)
c.258C= (p.Tyr86=)
n.459C=
c.456C= (p.Tyr152=)
12g.114398675G>TCA254306TBX5c.408C>A (p.Tyr136Ter)
c.258C>A (p.Tyr86Ter)
n.459C>A
c.456C>A (p.Tyr152Ter)
 ClinVar dbSNP
12g.114398676T>ACA386862161TBX5c.407A>T (p.Tyr136Phe)
c.257A>T (p.Tyr86Phe)
n.458A>T
c.455A>T (p.Tyr152Phe)
 gnomAD v4
12g.114398676T>CCA386862162TBX5c.407A>G (p.Tyr136Cys)
c.257A>G (p.Tyr86Cys)
n.458A>G
c.455A>G (p.Tyr152Cys)
 dbSNP
12g.114398676T>GCA386862163TBX5c.407A>C (p.Tyr136Ser)
c.257A>C (p.Tyr86Ser)
n.458A>C
c.455A>C (p.Tyr152Ser)
12g.114398676T=CA2064649749TBX5c.407A= (p.Tyr136=)
c.257A= (p.Tyr86=)
n.458A=
c.455A= (p.Tyr152=)
12g.114398677A>CCA386862164TBX5c.406T>G (p.Tyr136Asp)
c.256T>G (p.Tyr86Asp)
n.457T>G
c.454T>G (p.Tyr152Asp)
12g.114398677A>GCA386862166TBX5c.406T>C (p.Tyr136His)
c.256T>C (p.Tyr86His)
n.457T>C
c.454T>C (p.Tyr152His)
 gnomAD v4
12g.114398677A>TCA386862165TBX5c.406T>A (p.Tyr136Asn)
c.256T>A (p.Tyr86Asn)
n.457T>A
c.454T>A (p.Tyr152Asn)
12g.114398678C>ACA481920512TBX5c.405G>T (p.Leu135=)
c.255G>T (p.Leu85=)
n.456G>T
c.453G>T (p.Leu151=)
12g.114398678C>GCA481920511TBX5c.405G>C (p.Leu135=)
c.255G>C (p.Leu85=)
n.456G>C
c.453G>C (p.Leu151=)
12g.114398678C>TCA481920510TBX5c.405G>A (p.Leu135=)
c.255G>A (p.Leu85=)
n.456G>A
c.453G>A (p.Leu151=)
12g.114398679A=CA2064649757TBX5c.404T= (p.Leu135=)
c.254T= (p.Leu85=)
n.455T=
c.452T= (p.Leu151=)
12g.114398679A>CCA16044038TBX5c.404T>G (p.Leu135Arg)
c.254T>G (p.Leu85Arg)
n.455T>G
c.452T>G (p.Leu151Arg)
 ClinVar dbSNP
12g.114398679A>GCA386862167TBX5c.404T>C (p.Leu135Pro)
c.254T>C (p.Leu85Pro)
n.455T>C
c.452T>C (p.Leu151Pro)
12g.114398679A>TCA386862168TBX5c.404T>A (p.Leu135Gln)
c.254T>A (p.Leu85Gln)
n.455T>A
c.452T>A (p.Leu151Gln)
12g.114398680G>ACA481920513TBX5c.403C>T (p.Leu135=)
c.253C>T (p.Leu85=)
n.454C>T
c.451C>T (p.Leu151=)
12g.114398680G>CCA386862169TBX5c.403C>G (p.Leu135Val)
c.253C>G (p.Leu85Val)
n.454C>G
c.451C>G (p.Leu151Val)
12g.114398680G>TCA386862170TBX5c.403C>A (p.Leu135Met)
c.253C>A (p.Leu85Met)
n.454C>A
c.451C>A (p.Leu151Met)
12g.114398680_114398707delinsGGCGGCCAGGCATGGCGGGCTCAGCTTTCA2064649762TBX5c.376_403delinsAAAGCTGAGCCCGCCATGCCTGGCCGCC (p.Lys126=)
c.226_253delinsAAAGCTGAGCCCGCCATGCCTGGCCGCC (p.Lys76=)
n.427_454delinsAAAGCTGAGCCCGCCATGCCTGGCCGCC
c.424_451delinsAAAGCTGAGCCCGCCATGCCTGGCCGCC (p.Lys142=)
12g.114398681G>ACA481920514TBX5c.402C>T (p.Arg134=)
c.252C>T (p.Arg84=)
n.453C>T
c.450C>T (p.Arg150=)
 dbSNP
12g.114398681G>CCA481920515TBX5c.402C>G (p.Arg134=)
c.252C>G (p.Arg84=)
n.453C>G
c.450C>G (p.Arg150=)
12g.114398681G=CA2064649775TBX5c.402C= (p.Arg134=)
c.252C= (p.Arg84=)
n.453C=
c.450C= (p.Arg150=)
12g.114398681G>TCA481920516TBX5c.402C>A (p.Arg134=)
c.252C>A (p.Arg84=)
n.453C>A
c.450C>A (p.Arg150=)
 COSMIC COSMIC
12g.114398683_114398709delCA319857TBX5c.376_402del (p.Lys126_Arg134del)
c.226_252del (p.Lys76_Arg84del)
n.427_453del
c.424_450del (p.Lys142_Arg150del)
 ClinVar dbSNP
12g.114398682C>ACA386862173TBX5c.401G>T (p.Arg134Leu)
c.251G>T (p.Arg84Leu)
n.452G>T
c.449G>T (p.Arg150Leu)
 ClinVar
12g.114398682C>GCA386862172TBX5c.401G>C (p.Arg134Pro)
c.251G>C (p.Arg84Pro)
n.452G>C
c.449G>C (p.Arg150Pro)
 ClinVar
12g.114398682C>TCA386862171TBX5c.401G>A (p.Arg134His)
c.251G>A (p.Arg84His)
n.452G>A
c.449G>A (p.Arg150His)
 ClinVar
12g.114398682_114398683delinsCGCA2064649782TBX5c.400_401delinsCG (p.Arg134=)
c.250_251delinsCG (p.Arg84=)
n.451_452delinsCG
c.448_449delinsCG (p.Arg150=)
12g.114398683G>ACA386862174TBX5c.400C>T (p.Arg134Cys)
c.250C>T (p.Arg84Cys)
n.451C>T
c.448C>T (p.Arg150Cys)
12g.114398683G>CCA386862175TBX5c.400C>G (p.Arg134Gly)
c.250C>G (p.Arg84Gly)
n.451C>G
c.448C>G (p.Arg150Gly)
12g.114398683G>TCA386862176TBX5c.400C>A (p.Arg134Ser)
c.250C>A (p.Arg84Ser)
n.451C>A
c.448C>A (p.Arg150Ser)
12g.114398684dupCA2695217404TBX5c.400dup (p.Arg134ProfsTer?)
c.250dup (p.Arg84ProfsTer?)
n.451dup
c.448dup (p.Arg150ProfsTer?)
12g.114398684delCA683862762TBX5c.400del (p.Arg134AlafsTer16)
c.250del (p.Arg84AlafsTer16)
n.451del
c.448del (p.Arg150AlafsTer16)
 ClinVar dbSNP
12g.114398684G>ACA481920517TBX5c.399C>T (p.Gly133=)
c.249C>T (p.Gly83=)
n.450C>T
c.447C>T (p.Gly149=)
 dbSNP gnomAD v2 gnomAD v4
12g.114398684G>CCA481920519TBX5c.399C>G (p.Gly133=)
c.249C>G (p.Gly83=)
n.450C>G
c.447C>G (p.Gly149=)
12g.114398684G=CA2064649792TBX5c.399C= (p.Gly133=)
c.249C= (p.Gly83=)
n.450C=
c.447C= (p.Gly149=)
12g.114398684G>TCA481920518TBX5c.399C>A (p.Gly133=)
c.249C>A (p.Gly83=)
n.450C>A
c.447C>A (p.Gly149=)
 gnomAD v4
12g.114398685C>ACA386862177TBX5c.398G>T (p.Gly133Val)
c.248G>T (p.Gly83Val)
n.449G>T
c.446G>T (p.Gly149Val)
12g.114398685C>GCA386862178TBX5c.398G>C (p.Gly133Ala)
c.248G>C (p.Gly83Ala)
n.449G>C
c.446G>C (p.Gly149Ala)
 dbSNP
12g.114398685C>TCA386862179TBX5c.398G>A (p.Gly133Asp)
c.248G>A (p.Gly83Asp)
n.449G>A
c.446G>A (p.Gly149Asp)
12g.114398686C>ACA386862180TBX5c.397G>T (p.Gly133Cys)
c.247G>T (p.Gly83Cys)
n.448G>T
c.445G>T (p.Gly149Cys)
 dbSNP
12g.114398686C=CA2064649796TBX5c.397G= (p.Gly133=)
c.247G= (p.Gly83=)
n.448G=
c.445G= (p.Gly149=)
12g.114398686C>GCA386862182TBX5c.397G>C (p.Gly133Arg)
c.247G>C (p.Gly83Arg)
n.448G>C
c.445G>C (p.Gly149Arg)
12g.114398686C>TCA386862181TBX5c.397G>A (p.Gly133Ser)
c.247G>A (p.Gly83Ser)
n.448G>A
c.445G>A (p.Gly149Ser)
12g.114398687A>CCA481920520TBX5c.396T>G (p.Pro132=)
c.246T>G (p.Pro82=)
n.447T>G
c.444T>G (p.Pro148=)
12g.114398687A>GCA481920521TBX5c.396T>C (p.Pro132=)
c.246T>C (p.Pro82=)
n.447T>C
c.444T>C (p.Pro148=)
12g.114398687A>TCA481920522TBX5c.396T>A (p.Pro132=)
c.246T>A (p.Pro82=)
n.447T>A
c.444T>A (p.Pro148=)
12g.114398688G>ACA386862183TBX5c.395C>T (p.Pro132Leu)
c.245C>T (p.Pro82Leu)
n.446C>T
c.443C>T (p.Pro148Leu)
12g.114398688G>CCA386862184TBX5c.395C>G (p.Pro132Arg)
c.245C>G (p.Pro82Arg)
n.446C>G
c.443C>G (p.Pro148Arg)
12g.114398688G>TCA386862185TBX5c.395C>A (p.Pro132His)
c.245C>A (p.Pro82His)
n.446C>A
c.443C>A (p.Pro148His)
12g.114398689G>ACA386862186TBX5c.394C>T (p.Pro132Ser)
c.244C>T (p.Pro82Ser)
n.445C>T
c.442C>T (p.Pro148Ser)
12g.114398689G>CCA386862187TBX5c.394C>G (p.Pro132Ala)
c.244C>G (p.Pro82Ala)
n.445C>G
c.442C>G (p.Pro148Ala)
12g.114398689G>TCA386862188TBX5c.394C>A (p.Pro132Thr)
c.244C>A (p.Pro82Thr)
n.445C>A
c.442C>A (p.Pro148Thr)
 ClinVar
12g.114398690C>ACA386862189TBX5c.393G>T (p.Met131Ile)
c.243G>T (p.Met81Ile)
n.444G>T
c.441G>T (p.Met147Ile)
12g.114398690C>GCA386862190TBX5c.393G>C (p.Met131Ile)
c.243G>C (p.Met81Ile)
n.444G>C
c.441G>C (p.Met147Ile)
12g.114398690C>TCA386862191TBX5c.393G>A (p.Met131Ile)
c.243G>A (p.Met81Ile)
n.444G>A
c.441G>A (p.Met147Ile)
12g.114398691A>CCA386862192TBX5c.392T>G (p.Met131Arg)
c.242T>G (p.Met81Arg)
n.443T>G
c.440T>G (p.Met147Arg)
12g.114398691A>GCA386862193TBX5c.392T>C (p.Met131Thr)
c.242T>C (p.Met81Thr)
n.443T>C
c.440T>C (p.Met147Thr)
12g.114398691A>TCA386862194TBX5c.392T>A (p.Met131Lys)
c.242T>A (p.Met81Lys)
n.443T>A
c.440T>A (p.Met147Lys)
12g.114398692T>ACA386862197TBX5c.391A>T (p.Met131Leu)
c.241A>T (p.Met81Leu)
n.442A>T
c.439A>T (p.Met147Leu)
12g.114398692T>CCA386862195TBX5c.391A>G (p.Met131Val)
c.241A>G (p.Met81Val)
n.442A>G
c.439A>G (p.Met147Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.114398692T>GCA386862196TBX5c.391A>C (p.Met131Leu)
c.241A>C (p.Met81Leu)
n.442A>C
c.439A>C (p.Met147Leu)
12g.114398692T=CA2064649800TBX5c.391A= (p.Met131=)
c.241A= (p.Met81=)
n.442A=
c.439A= (p.Met147=)
12g.114398692_114398693delinsTGCA2064649804TBX5c.390_391delinsCA (p.Ala130=)
c.240_241delinsCA (p.Ala80=)
n.441_442delinsCA
c.438_439delinsCA (p.Ala146=)
12g.114398693G>ACA6809617TBX5c.390C>T (p.Ala130=)
c.240C>T (p.Ala80=)
n.441C>T
c.438C>T (p.Ala146=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114398693G>CCA481920523TBX5c.390C>G (p.Ala130=)
c.240C>G (p.Ala80=)
n.441C>G
c.438C>G (p.Ala146=)
 gnomAD v4
12g.114398693G=CA2064649817TBX5c.390C= (p.Ala130=)
c.240C= (p.Ala80=)
n.441C=
c.438C= (p.Ala146=)
12g.114398693G>TCA481920524TBX5c.390C>A (p.Ala130=)
c.240C>A (p.Ala80=)
n.441C>A
c.438C>A (p.Ala146=)
12g.114398694delCA891843702TBX5c.390del (p.Met131CysfsTer19)
c.240del (p.Met81CysfsTer19)
n.441del
c.438del (p.Met147CysfsTer19)
 ClinVar dbSNP
12g.114398694G>ACA386862198TBX5c.389C>T (p.Ala130Val)
c.239C>T (p.Ala80Val)
n.440C>T
c.437C>T (p.Ala146Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.114398694G>CCA386862199TBX5c.389C>G (p.Ala130Gly)
c.239C>G (p.Ala80Gly)
n.440C>G
c.437C>G (p.Ala146Gly)
12g.114398694G=CA2064649829TBX5c.389C= (p.Ala130=)
c.239C= (p.Ala80=)
n.440C=
c.437C= (p.Ala146=)
12g.114398694G>TCA386862200TBX5c.389C>A (p.Ala130Asp)
c.239C>A (p.Ala80Asp)
n.440C>A
c.437C>A (p.Ala146Asp)
 COSMIC COSMIC
12g.114398695C>ACA386862201TBX5c.388G>T (p.Ala130Ser)
c.238G>T (p.Ala80Ser)
n.439G>T
c.436G>T (p.Ala146Ser)
 dbSNP gnomAD v4
12g.114398695C=CA2064649831TBX5c.388G= (p.Ala130=)
c.238G= (p.Ala80=)
n.439G=
c.436G= (p.Ala146=)
12g.114398695C>GCA386862202TBX5c.388G>C (p.Ala130Pro)
c.238G>C (p.Ala80Pro)
n.439G>C
c.436G>C (p.Ala146Pro)
12g.114398695C>TCA386862203TBX5c.388G>A (p.Ala130Thr)
c.238G>A (p.Ala80Thr)
n.439G>A
c.436G>A (p.Ala146Thr)
 dbSNP gnomAD v4
12g.114398696G>ACA481920525TBX5c.387C>T (p.Pro129=)
c.237C>T (p.Pro79=)
n.438C>T
c.435C>T (p.Pro145=)
 dbSNP gnomAD v3 gnomAD v4
12g.114398696G>CCA481920526TBX5c.387C>G (p.Pro129=)
c.237C>G (p.Pro79=)
n.438C>G
c.435C>G (p.Pro145=)
12g.114398696G=CA2064649838TBX5c.387C= (p.Pro129=)
c.237C= (p.Pro79=)
n.438C=
c.435C= (p.Pro145=)
12g.114398696G>TCA481920527TBX5c.387C>A (p.Pro129=)
c.237C>A (p.Pro79=)
n.438C>A
c.435C>A (p.Pro145=)
12g.114398697G>ACA386862206TBX5c.386C>T (p.Pro129Leu)
c.236C>T (p.Pro79Leu)
n.437C>T
c.434C>T (p.Pro145Leu)
 ClinVar
12g.114398697G>CCA386862204TBX5c.386C>G (p.Pro129Arg)
c.236C>G (p.Pro79Arg)
n.437C>G
c.434C>G (p.Pro145Arg)
12g.114398697G>TCA386862205TBX5c.386C>A (p.Pro129His)
c.236C>A (p.Pro79His)
n.437C>A
c.434C>A (p.Pro145His)
12g.114398697_114398700dupCA2499221455TBX5c.383_386dup (p.Met131ArgfsTer?)
c.233_236dup (p.Met81ArgfsTer?)
n.434_437dup
c.431_434dup (p.Met147ArgfsTer?)
 ClinVar dbSNP
12g.114398698G>ACA386862207TBX5c.385C>T (p.Pro129Ser)
c.235C>T (p.Pro79Ser)
n.436C>T
c.433C>T (p.Pro145Ser)
 gnomAD v4
12g.114398698G>CCA386862208TBX5c.385C>G (p.Pro129Ala)
c.235C>G (p.Pro79Ala)
n.436C>G
c.433C>G (p.Pro145Ala)
 dbSNP
12g.114398698G=CA2064649842TBX5c.385C= (p.Pro129=)
c.235C= (p.Pro79=)
n.436C=
c.433C= (p.Pro145=)
12g.114398698G>TCA386862209TBX5c.385C>A (p.Pro129Thr)
c.235C>A (p.Pro79Thr)
n.436C>A
c.433C>A (p.Pro145Thr)
 gnomAD v4
12g.114398699C>ACA386862210TBX5c.384G>T (p.Glu128Asp)
c.234G>T (p.Glu78Asp)
n.435G>T
c.432G>T (p.Glu144Asp)
 dbSNP
12g.114398699C=CA2064649849TBX5c.384G= (p.Glu128=)
c.234G= (p.Glu78=)
n.435G=
c.432G= (p.Glu144=)
12g.114398699C>GCA386862211TBX5c.384G>C (p.Glu128Asp)
c.234G>C (p.Glu78Asp)
n.435G>C
c.432G>C (p.Glu144Asp)
 dbSNP
12g.114398699C>TCA481920528TBX5c.384G>A (p.Glu128=)
c.234G>A (p.Glu78=)
n.435G>A
c.432G>A (p.Glu144=)
12g.114398700T>ACA386862212TBX5c.383A>T (p.Glu128Val)
c.233A>T (p.Glu78Val)
n.434A>T
c.431A>T (p.Glu144Val)
12g.114398700T>CCA386862214TBX5c.383A>G (p.Glu128Gly)
c.233A>G (p.Glu78Gly)
n.434A>G
c.431A>G (p.Glu144Gly)
 ClinVar
12g.114398700T>GCA386862213TBX5c.383A>C (p.Glu128Ala)
c.233A>C (p.Glu78Ala)
n.434A>C
c.431A>C (p.Glu144Ala)
12g.114398701C>ACA386862215TBX5c.382G>T (p.Glu128Ter)
c.232G>T (p.Glu78Ter)
n.433G>T
c.430G>T (p.Glu144Ter)
12g.114398701C>GCA386862216TBX5c.382G>C (p.Glu128Gln)
c.232G>C (p.Glu78Gln)
n.433G>C
c.430G>C (p.Glu144Gln)
12g.114398701C>TCA386862217TBX5c.382G>A (p.Glu128Lys)
c.232G>A (p.Glu78Lys)
n.433G>A
c.430G>A (p.Glu144Lys)
 ClinVar
12g.114398702A>CCA481920529TBX5c.381T>G (p.Ala127=)
c.231T>G (p.Ala77=)
n.432T>G
c.429T>G (p.Ala143=)
12g.114398702A>GCA481920530TBX5c.381T>C (p.Ala127=)
c.231T>C (p.Ala77=)
n.432T>C
c.429T>C (p.Ala143=)
 gnomAD v4
12g.114398702A>TCA481920531TBX5c.381T>A (p.Ala127=)
c.231T>A (p.Ala77=)
n.432T>A
c.429T>A (p.Ala143=)
12g.114398703G>ACA386862218TBX5c.380C>T (p.Ala127Val)
c.230C>T (p.Ala77Val)
n.431C>T
c.428C>T (p.Ala143Val)
12g.114398703G>CCA386862219TBX5c.380C>G (p.Ala127Gly)
c.230C>G (p.Ala77Gly)
n.431C>G
c.428C>G (p.Ala143Gly)
12g.114398703G>TCA386862220TBX5c.380C>A (p.Ala127Asp)
c.230C>A (p.Ala77Asp)
n.431C>A
c.428C>A (p.Ala143Asp)
 gnomAD v4
12g.114398704C>ACA386862221TBX5c.379G>T (p.Ala127Ser)
c.229G>T (p.Ala77Ser)
n.430G>T
c.427G>T (p.Ala143Ser)
 dbSNP gnomAD v2 gnomAD v4
12g.114398704C=CA2064649852TBX5c.379G= (p.Ala127=)
c.229G= (p.Ala77=)
n.430G=
c.427G= (p.Ala143=)
12g.114398704C>GCA386862222TBX5c.379G>C (p.Ala127Pro)
c.229G>C (p.Ala77Pro)
n.430G>C
c.427G>C (p.Ala143Pro)
12g.114398704C>TCA386862223TBX5c.379G>A (p.Ala127Thr)
c.229G>A (p.Ala77Thr)
n.430G>A
c.427G>A (p.Ala143Thr)
12g.114398705T>ACA386862224TBX5c.378A>T (p.Lys126Asn)
c.228A>T (p.Lys76Asn)
n.429A>T
c.426A>T (p.Lys142Asn)
12g.114398705T>CCA481920532TBX5c.378A>G (p.Lys126=)
c.228A>G (p.Lys76=)
n.429A>G
c.426A>G (p.Lys142=)
12g.114398705T>GCA386862225TBX5c.378A>C (p.Lys126Asn)
c.228A>C (p.Lys76Asn)
n.429A>C
c.426A>C (p.Lys142Asn)
12g.114398706T>ACA386862226TBX5c.377A>T (p.Lys126Ile)
c.227A>T (p.Lys76Ile)
n.428A>T
c.425A>T (p.Lys142Ile)
12g.114398706T>CCA386862228TBX5c.377A>G (p.Lys126Arg)
c.227A>G (p.Lys76Arg)
n.428A>G
c.425A>G (p.Lys142Arg)
 gnomAD v4
12g.114398706T>GCA386862227TBX5c.377A>C (p.Lys126Thr)
c.227A>C (p.Lys76Thr)
n.428A>C
c.425A>C (p.Lys142Thr)
12g.114398707T>ACA386862229TBX5c.376A>T (p.Lys126Ter)
c.226A>T (p.Lys76Ter)
n.427A>T
c.424A>T (p.Lys142Ter)
12g.114398707T>CCA386862230TBX5c.376A>G (p.Lys126Glu)
c.226A>G (p.Lys76Glu)
n.427A>G
c.424A>G (p.Lys142Glu)
12g.114398707T>GCA386862231TBX5c.376A>C (p.Lys126Gln)
c.226A>C (p.Lys76Gln)
n.427A>C
c.424A>C (p.Lys142Gln)
12g.114398708G>ACA6809618TBX5c.375C>T (p.Gly125=)
c.225C>T (p.Gly75=)
n.426C>T
c.423C>T (p.Gly141=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.114398708G>CCA481920533TBX5c.375C>G (p.Gly125=)
c.225C>G (p.Gly75=)
n.426C>G
c.423C>G (p.Gly141=)
12g.114398708G=CA2064649860TBX5c.375C= (p.Gly125=)
c.225C= (p.Gly75=)
n.426C=
c.423C= (p.Gly141=)
12g.114398708G>TCA481920534TBX5c.375C>A (p.Gly125=)
c.225C>A (p.Gly75=)
n.426C>A
c.423C>A (p.Gly141=)
12g.114398709C>ACA386862232TBX5c.374G>T (p.Gly125Val)
c.224G>T (p.Gly75Val)
n.425G>T
c.422G>T (p.Gly141Val)
12g.114398709C=CA2064649872TBX5c.374G= (p.Gly125=)
c.224G= (p.Gly75=)
n.425G=
c.422G= (p.Gly141=)
12g.114398709C>GCA386862233TBX5c.374G>C (p.Gly125Ala)
c.224G>C (p.Gly75Ala)
n.425G>C
c.422G>C (p.Gly141Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114398709C>TCA386862234TBX5c.374G>A (p.Gly125Asp)
c.224G>A (p.Gly75Asp)
n.425G>A
c.422G>A (p.Gly141Asp)
 gnomAD v4
12g.114398711delCA2695217406TBX5c.374del (p.Gly125AlafsTer25)
c.224del (p.Gly75AlafsTer25)
n.425del
c.422del (p.Gly141AlafsTer25)
12g.114398710C>ACA386862235TBX5c.373G>T (p.Gly125Cys)
c.223G>T (p.Gly75Cys)
n.424G>T
c.421G>T (p.Gly141Cys)
 COSMIC COSMIC
12g.114398710C=CA2064649882TBX5c.373G= (p.Gly125=)
c.223G= (p.Gly75=)
n.424G=
c.421G= (p.Gly141=)
12g.114398710C>GCA325430TBX5c.373G>C (p.Gly125Arg)
c.223G>C (p.Gly75Arg)
n.424G>C
c.421G>C (p.Gly141Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114398710C>TCA386862236TBX5c.373G>A (p.Gly125Ser)
c.223G>A (p.Gly75Ser)
n.424G>A
c.421G>A (p.Gly141Ser)
 gnomAD v4

Number of alleles fetched