Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.3595819G>ACA403330697TBXA2Rc.901C>T (p.Gln301Ter)
c.512C>T (p.Pro171Leu)
19g.3595819G>CCA403330703TBXA2Rc.901C>G (p.Gln301Glu)
c.512C>G (p.Pro171Arg)
19g.3595819G=CA2318945864TBXA2Rc.901C= (p.Gln301=)
c.512C= (p.Pro171=)
19g.3595819G>TCA403330701TBXA2Rc.901C>A (p.Gln301Lys)
c.512C>A (p.Pro171Gln)
 dbSNP gnomAD v2 gnomAD v4
19g.3595820G>ACA403330708TBXA2Rc.900C>T (p.Asn300=)
c.511C>T (p.Pro171Ser)
19g.3595820G>CCA403330709TBXA2Rc.900C>G (p.Asn300Lys)
c.511C>G (p.Pro171Ala)
19g.3595820G>TCA403330711TBXA2Rc.900C>A (p.Asn300Lys)
c.511C>A (p.Pro171Thr)
19g.3595821T>ACA403330712TBXA2Rc.899A>T (p.Asn300Ile)
c.510A>T (p.Glu170Asp)
19g.3595821T>CCA403330715TBXA2Rc.899A>G (p.Asn300Ser)
c.510A>G (p.Glu170=)
19g.3595821T>GCA403330717TBXA2Rc.899A>C (p.Asn300Thr)
c.510A>C (p.Glu170Asp)
19g.3595822T>ACA403330721TBXA2Rc.898A>T (p.Asn300Tyr)
c.509A>T (p.Glu170Val)
19g.3595822T>CCA403330723TBXA2Rc.898A>G (p.Asn300Asp)
c.509A>G (p.Glu170Gly)
19g.3595822T>GCA403330726TBXA2Rc.898A>C (p.Asn300His)
c.509A>C (p.Glu170Ala)
19g.3595823C>ACA403330728TBXA2Rc.897G>T (p.Trp299Cys)
c.508G>T (p.Glu170Ter)
19g.3595823C>GCA403330731TBXA2Rc.897G>C (p.Trp299Cys)
c.508G>C (p.Glu170Gln)
19g.3595823C>TCA403330732TBXA2Rc.897G>A (p.Trp299Ter)
c.508G>A (p.Glu170Lys)
19g.3595824C>ACA403330739TBXA2Rc.896G>T (p.Trp299Leu)
c.507G>T (p.Leu169=)
19g.3595824C=CA2318945866TBXA2Rc.896G= (p.Trp299=)
c.507G= (p.Leu169=)
19g.3595824C>GCA403330736TBXA2Rc.896G>C (p.Trp299Ser)
c.507G>C (p.Leu169=)
19g.3595824C>TCA9080742TBXA2Rc.896G>A (p.Trp299Ter)
c.507G>A (p.Leu169=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595824_3595847delinsCAGGTGGCCACGCGCAAGTAGATGCA2318945865TBXA2Rc.873_896delinsCATCTACTTGCGCGTGGCCACCTG (p.Leu291=)
c.484_507delinsCATCTACTTGCGCGTGGCCACCTG (p.His162=)
19g.3595825A>CCA403330744TBXA2Rc.895T>G (p.Trp299Gly)
c.506T>G (p.Leu169Arg)
19g.3595825A>GCA403330748TBXA2Rc.895T>C (p.Trp299Arg)
c.506T>C (p.Leu169Pro)
19g.3595825A>TCA403330751TBXA2Rc.895T>A (p.Trp299Arg)
c.506T>A (p.Leu169Gln)
19g.3595827_3595849delCA9080743TBXA2Rc.873_895del (p.Ile292GlufsTer?)
c.484_506del (p.His162GlyfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595826G>ACA505155014TBXA2Rc.894C>T (p.Thr298=)
c.505C>T (p.Leu169=)
19g.3595826G>CCA403330755TBXA2Rc.894C>G (p.Thr298=)
c.505C>G (p.Leu169Val)
19g.3595826G>TCA403330756TBXA2Rc.894C>A (p.Thr298=)
c.505C>A (p.Leu169Met)
 COSMIC COSMIC
19g.3595827G>ACA403330760TBXA2Rc.893C>T (p.Thr298Ile)
c.504C>T (p.His168=)
 dbSNP gnomAD v4
19g.3595827G>CCA403330763TBXA2Rc.893C>G (p.Thr298Ser)
c.504C>G (p.His168Gln)
 dbSNP
19g.3595827G=CA2318945867TBXA2Rc.893C= (p.Thr298=)
c.504C= (p.His168=)
19g.3595827G>TCA403330766TBXA2Rc.893C>A (p.Thr298Asn)
c.504C>A (p.His168Gln)
19g.3595828T>ACA403330770TBXA2Rc.892A>T (p.Thr298Ser)
c.503A>T (p.His168Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.3595828T>CCA403330771TBXA2Rc.892A>G (p.Thr298Ala)
c.503A>G (p.His168Arg)
 gnomAD v4
19g.3595828T>GCA403330773TBXA2Rc.892A>C (p.Thr298Pro)
c.503A>C (p.His168Pro)
19g.3595828T=CA2318945868TBXA2Rc.892A= (p.Thr298=)
c.503A= (p.His168=)
19g.3595829G>ACA304367908TBXA2Rc.891C>T (p.Ala297=)
c.502C>T (p.His168Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.3595829G>CCA403330780TBXA2Rc.891C>G (p.Ala297=)
c.502C>G (p.His168Asp)
19g.3595829G=CA2318945869TBXA2Rc.891C= (p.Ala297=)
c.502C= (p.His168=)
19g.3595829G>TCA403330777TBXA2Rc.891C>A (p.Ala297=)
c.502C>A (p.His168Asn)
19g.3595830G>ACA403330783TBXA2Rc.890C>T (p.Ala297Val)
c.501C>T (p.Gly167=)
19g.3595830G>CCA403330785TBXA2Rc.890C>G (p.Ala297Gly)
c.501C>G (p.Gly167=)
19g.3595830G>TCA403330787TBXA2Rc.890C>A (p.Ala297Asp)
c.501C>A (p.Gly167=)
 gnomAD v4
19g.3595831C>ACA403330790TBXA2Rc.889G>T (p.Ala297Ser)
c.500G>T (p.Gly167Val)
19g.3595831C=CA2318945870TBXA2Rc.889G= (p.Ala297=)
c.500G= (p.Gly167=)
19g.3595831C>GCA403330792TBXA2Rc.889G>C (p.Ala297Pro)
c.500G>C (p.Gly167Ala)
19g.3595831C>TCA304367910TBXA2Rc.889G>A (p.Ala297Thr)
c.500G>A (p.Gly167Asp)
 dbSNP gnomAD v2 gnomAD v4
19g.3595832C>ACA403330801TBXA2Rc.888G>T (p.Val296=)
c.499G>T (p.Gly167Cys)
 dbSNP gnomAD v2
19g.3595832C=CA2318945871TBXA2Rc.888G= (p.Val296=)
c.499G= (p.Gly167=)
19g.3595832C>GCA403330798TBXA2Rc.888G>C (p.Val296=)
c.499G>C (p.Gly167Arg)
19g.3595832C>TCA9080744TBXA2Rc.888G>A (p.Val296=)
c.499G>A (p.Gly167Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595833A=CA2318945872TBXA2Rc.887T= (p.Val296=)
c.498T= (p.Arg166=)
19g.3595833A>CCA403330805TBXA2Rc.887T>G (p.Val296Gly)
c.498T>G (p.Arg166=)
19g.3595833A>GCA403330807TBXA2Rc.887T>C (p.Val296Ala)
c.498T>C (p.Arg166=)
 dbSNP gnomAD v4
19g.3595833A>TCA403330810TBXA2Rc.887T>A (p.Val296Glu)
c.498T>A (p.Arg166=)
19g.3595834C>ACA403330814TBXA2Rc.886G>T (p.Val296Leu)
c.497G>T (p.Arg166Leu)
19g.3595834C=CA2318945873TBXA2Rc.886G= (p.Val296=)
c.497G= (p.Arg166=)
19g.3595834C>GCA403330816TBXA2Rc.886G>C (p.Val296Leu)
c.497G>C (p.Arg166Pro)
19g.3595834C>TCA9080745TBXA2Rc.886G>A (p.Val296Met)
c.497G>A (p.Arg166His)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595835G>ACA403330819TBXA2Rc.885C>T (p.Arg295=)
c.496C>T (p.Arg166Cys)
 dbSNP gnomAD v4 COSMIC COSMIC
19g.3595835G>CCA304367913TBXA2Rc.885C>G (p.Arg295=)
c.496C>G (p.Arg166Gly)
 dbSNP
19g.3595835G=CA2318945874TBXA2Rc.885C= (p.Arg295=)
c.496C= (p.Arg166=)
19g.3595835G>TCA403330822TBXA2Rc.885C>A (p.Arg295=)
c.496C>A (p.Arg166Ser)
19g.3595836C>ACA403330825TBXA2Rc.884G>T (p.Arg295Leu)
c.495G>T (p.Ala165=)
 gnomAD v4
19g.3595836C=CA2318945875TBXA2Rc.884G= (p.Arg295=)
c.495G= (p.Ala165=)
19g.3595836C>GCA403330828TBXA2Rc.884G>C (p.Arg295Pro)
c.495G>C (p.Ala165=)
19g.3595836C>TCA9080746TBXA2Rc.884G>A (p.Arg295His)
c.495G>A (p.Ala165=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595837delCA2584493821TBXA2Rc.883del (p.Arg295AlafsTer?)
c.494del (p.Ala165GlyfsTer?)
 gnomAD v4
19g.3595837G>ACA9080747TBXA2Rc.883C>T (p.Arg295Cys)
c.494C>T (p.Ala165Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595837G>CCA403330833TBXA2Rc.883C>G (p.Arg295Gly)
c.494C>G (p.Ala165Gly)
 dbSNP gnomAD v3 gnomAD v4
19g.3595837G=CA2318945876TBXA2Rc.883C= (p.Arg295=)
c.494C= (p.Ala165=)
19g.3595837G>TCA403330834TBXA2Rc.883C>A (p.Arg295Ser)
c.494C>A (p.Ala165Glu)
19g.3595838C>ACA403330837TBXA2Rc.882G>T (p.Leu294Phe)
c.493G>T (p.Ala165Ser)
19g.3595838C=CA2318945877TBXA2Rc.882G= (p.Leu294=)
c.493G= (p.Ala165=)
19g.3595838C>GCA403330839TBXA2Rc.882G>C (p.Leu294Phe)
c.493G>C (p.Ala165Pro)
19g.3595838C>TCA9080748TBXA2Rc.882G>A (p.Leu294=)
c.493G>A (p.Ala165Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595838dupCA2584493822TBXA2Rc.882dup (p.Arg295AlafsTer?)
c.493dup (p.Ala165GlyfsTer?)
 gnomAD v4
19g.3595839A>CCA403330842TBXA2Rc.881T>G (p.Leu294Trp)
c.492T>G (p.Leu164=)
19g.3595839A>GCA403330843TBXA2Rc.881T>C (p.Leu294Ser)
c.492T>C (p.Leu164=)
19g.3595839A>TCA403330844TBXA2Rc.881T>A (p.Leu294Ter)
c.492T>A (p.Leu164=)
19g.3595840A>CCA403330853TBXA2Rc.880T>G (p.Leu294Val)
c.491T>G (p.Leu164Arg)
19g.3595840A>GCA403330849TBXA2Rc.880T>C (p.Leu294=)
c.491T>C (p.Leu164Pro)
19g.3595840A>TCA403330851TBXA2Rc.880T>A (p.Leu294Met)
c.491T>A (p.Leu164His)
19g.3595841G>ACA9080749TBXA2Rc.879C>T (p.Tyr293=)
c.490C>T (p.Leu164Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595841G>CCA403330858TBXA2Rc.879C>G (p.Tyr293Ter)
c.490C>G (p.Leu164Val)
19g.3595841G=CA2318945878TBXA2Rc.879C= (p.Tyr293=)
c.490C= (p.Leu164=)
19g.3595841G>TCA403330861TBXA2Rc.879C>A (p.Tyr293Ter)
c.490C>A (p.Leu164Ile)
19g.3595842T>ACA403330863TBXA2Rc.878A>T (p.Tyr293Phe)
c.489A>T (p.Leu163=)
19g.3595842T>CCA9080750TBXA2Rc.878A>G (p.Tyr293Cys)
c.489A>G (p.Leu163=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595842T>GCA403330867TBXA2Rc.878A>C (p.Tyr293Ser)
c.489A>C (p.Leu163=)
19g.3595842T=CA2318945879TBXA2Rc.878A= (p.Tyr293=)
c.489A= (p.Leu163=)
19g.3595843A=CA2318945880TBXA2Rc.877T= (p.Tyr293=)
c.488T= (p.Leu163=)
19g.3595843A>CCA403330874TBXA2Rc.877T>G (p.Tyr293Asp)
c.488T>G (p.Leu163Arg)
 dbSNP
19g.3595843A>GCA403330869TBXA2Rc.877T>C (p.Tyr293His)
c.488T>C (p.Leu163Pro)
 gnomAD v4
19g.3595843A>TCA403330871TBXA2Rc.877T>A (p.Tyr293Asn)
c.488T>A (p.Leu163Gln)
19g.3595844G>ACA505155028TBXA2Rc.876C>T (p.Ile292=)
c.487C>T (p.Leu163=)
 gnomAD v4
19g.3595844G>CCA403330876TBXA2Rc.876C>G (p.Ile292Met)
c.487C>G (p.Leu163Val)
19g.3595844G=CA2318945881TBXA2Rc.876C= (p.Ile292=)
c.487C= (p.Leu163=)
19g.3595844G>TCA304367918TBXA2Rc.876C>A (p.Ile292=)
c.487C>A (p.Leu163Ile)
 dbSNP gnomAD v3 gnomAD v4
19g.3595845A>CCA403330889TBXA2Rc.875T>G (p.Ile292Ser)
c.486T>G (p.His162Gln)
19g.3595845A>GCA403330891TBXA2Rc.875T>C (p.Ile292Thr)
c.486T>C (p.His162=)
19g.3595845A>TCA403330893TBXA2Rc.875T>A (p.Ile292Asn)
c.486T>A (p.His162Gln)
19g.3595846T>ACA403330900TBXA2Rc.874A>T (p.Ile292Phe)
c.485A>T (p.His162Leu)
19g.3595846T>CCA403330895TBXA2Rc.874A>G (p.Ile292Val)
c.485A>G (p.His162Arg)
 gnomAD v4
19g.3595846T>GCA403330898TBXA2Rc.874A>C (p.Ile292Leu)
c.485A>C (p.His162Pro)
19g.3595847G>ACA403330903TBXA2Rc.873C>T (p.Leu291=)
c.484C>T (p.His162Tyr)
 gnomAD v4
19g.3595847G>CCA403330906TBXA2Rc.873C>G (p.Leu291=)
c.484C>G (p.His162Asp)
19g.3595847G=CA2318945882TBXA2Rc.873C= (p.Leu291=)
c.484C= (p.His162=)
19g.3595847G>TCA403330908TBXA2Rc.873C>A (p.Leu291=)
c.484C>A (p.His162Asn)
19g.3595848A>CCA403330912TBXA2Rc.872T>G (p.Leu291Arg)
c.483T>G (p.Ala161=)
19g.3595848A>GCA403330914TBXA2Rc.872T>C (p.Leu291Pro)
c.483T>C (p.Ala161=)
19g.3595848A>TCA403330916TBXA2Rc.872T>A (p.Leu291His)
c.483T>A (p.Ala161=)
19g.3595851_3595853dupCA881804184TBXA2Rc.870_872dup (p.Leu291_Ile292insLeu)
c.481_483dup (p.Ala161_His162insAla)
 dbSNP gnomAD v3 gnomAD v4
19g.3595849G>ACA403330919TBXA2Rc.871C>T (p.Leu291Phe)
c.482C>T (p.Ala161Val)
19g.3595849G>CCA403330921TBXA2Rc.871C>G (p.Leu291Val)
c.482C>G (p.Ala161Gly)
19g.3595849G>TCA403330922TBXA2Rc.871C>A (p.Leu291Ile)
c.482C>A (p.Ala161Asp)
19g.3595850C>ACA403330925TBXA2Rc.870G>T (p.Leu290=)
c.481G>T (p.Ala161Ser)
19g.3595850C=CA2318945883TBXA2Rc.870G= (p.Leu290=)
c.481G= (p.Ala161=)
19g.3595850C>GCA403330928TBXA2Rc.870G>C (p.Leu290=)
c.481G>C (p.Ala161Pro)
19g.3595850C>TCA9080751TBXA2Rc.870G>A (p.Leu290=)
c.481G>A (p.Ala161Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595851A>CCA403330936TBXA2Rc.869T>G (p.Leu290Arg)
c.480T>G (p.Ala160=)
19g.3595851A>GCA403330932TBXA2Rc.869T>C (p.Leu290Pro)
c.480T>C (p.Ala160=)
19g.3595851A>TCA403330933TBXA2Rc.869T>A (p.Leu290Gln)
c.480T>A (p.Ala160=)
19g.3595852G>ACA403330938TBXA2Rc.868C>T (p.Leu290=)
c.479C>T (p.Ala160Val)
 dbSNP gnomAD v2
19g.3595852G>CCA403330940TBXA2Rc.868C>G (p.Leu290Val)
c.479C>G (p.Ala160Gly)
 dbSNP gnomAD v3 gnomAD v4
19g.3595852G=CA2318945884TBXA2Rc.868C= (p.Leu290=)
c.479C= (p.Ala160=)
19g.3595852G>TCA403330942TBXA2Rc.868C>A (p.Leu290Met)
c.479C>A (p.Ala160Asp)
19g.3595853C>ACA403330945TBXA2Rc.867G>T (p.Glu289Asp)
c.478G>T (p.Ala160Ser)
19g.3595853C=CA2318945885TBXA2Rc.867G= (p.Glu289=)
c.478G= (p.Ala160=)
19g.3595853C>GCA403330948TBXA2Rc.867G>C (p.Glu289Asp)
c.478G>C (p.Ala160Pro)
19g.3595853C>TCA403330950TBXA2Rc.867G>A (p.Glu289=)
c.478G>A (p.Ala160Thr)
 dbSNP gnomAD v2 gnomAD v4
19g.3595854T>ACA403330959TBXA2Rc.866A>T (p.Glu289Val)
c.477A>T (p.Gly159=)
19g.3595854T>CCA403330955TBXA2Rc.866A>G (p.Glu289Gly)
c.477A>G (p.Gly159=)
19g.3595854T>GCA403330954TBXA2Rc.866A>C (p.Glu289Ala)
c.477A>C (p.Gly159=)
19g.3595855C>ACA403330962TBXA2Rc.865G>T (p.Glu289Ter)
c.476G>T (p.Gly159Val)
19g.3595855C>GCA403330964TBXA2Rc.865G>C (p.Glu289Gln)
c.476G>C (p.Gly159Ala)
 gnomAD v4
19g.3595855C>TCA403330965TBXA2Rc.865G>A (p.Glu289Lys)
c.476G>A (p.Gly159Glu)
19g.3595855_3595858delinsCCTTCA2318945886TBXA2Rc.862_865delinsAAGG (p.Lys288=)
c.473_476delinsAAGG (p.Glu158=)
19g.3595856C>ACA403330968TBXA2Rc.864G>T (p.Lys288Asn)
c.475G>T (p.Gly159Ter)
 gnomAD v4
19g.3595856C=CA2318945887TBXA2Rc.864G= (p.Lys288=)
c.475G= (p.Gly159=)
19g.3595856C>GCA403330970TBXA2Rc.864G>C (p.Lys288Asn)
c.475G>C (p.Gly159Arg)
19g.3595856C>TCA403330973TBXA2Rc.864G>A (p.Lys288=)
c.475G>A (p.Gly159Arg)
 dbSNP gnomAD v2 gnomAD v4
19g.3595858_3595860delCA992743747TBXA2Rc.862_864del (p.Lys288del)
c.473_475del (p.Glu158del)
 dbSNP gnomAD v3 gnomAD v4
19g.3595857T>ACA403330980TBXA2Rc.863A>T (p.Lys288Met)
c.474A>T (p.Glu158Asp)
19g.3595857T>CCA9080752TBXA2Rc.863A>G (p.Lys288Arg)
c.474A>G (p.Glu158=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595857T>GCA403330982TBXA2Rc.863A>C (p.Lys288Thr)
c.474A>C (p.Glu158Asp)
 dbSNP gnomAD v2 gnomAD v4
19g.3595857T=CA2318945888TBXA2Rc.863A= (p.Lys288=)
c.474A= (p.Glu158=)
19g.3595858T>ACA403330987TBXA2Rc.862A>T (p.Lys288Ter)
c.473A>T (p.Glu158Val)
 COSMIC COSMIC
19g.3595858T>CCA403330990TBXA2Rc.862A>G (p.Lys288Glu)
c.473A>G (p.Glu158Gly)
 gnomAD v4
19g.3595858T>GCA403330993TBXA2Rc.862A>C (p.Lys288Gln)
c.473A>C (p.Glu158Ala)
19g.3595859C>ACA403330996TBXA2Rc.861G>T (p.Glu287Asp)
c.472G>T (p.Glu158Ter)
19g.3595859C>GCA403330998TBXA2Rc.861G>C (p.Glu287Asp)
c.472G>C (p.Glu158Gln)
 gnomAD v4
19g.3595859C>TCA403331000TBXA2Rc.861G>A (p.Glu287=)
c.472G>A (p.Glu158Lys)
19g.3595860T>ACA403331003TBXA2Rc.860A>T (p.Glu287Val)
c.471A>T (p.Gly157=)
19g.3595860T>CCA403331005TBXA2Rc.860A>G (p.Glu287Gly)
c.471A>G (p.Gly157=)
19g.3595860T>GCA403331006TBXA2Rc.860A>C (p.Glu287Ala)
c.471A>C (p.Gly157=)
19g.3595861C>ACA403331009TBXA2Rc.859G>T (p.Glu287Ter)
c.470G>T (p.Gly157Val)
19g.3595861C>GCA403331011TBXA2Rc.859G>C (p.Glu287Gln)
c.470G>C (p.Gly157Ala)
19g.3595861C>TCA403331014TBXA2Rc.859G>A (p.Glu287Lys)
c.470G>A (p.Gly157Glu)
 gnomAD v4
19g.3595862C>ACA403331016TBXA2Rc.858G>T (p.Thr286=)
c.469G>T (p.Gly157Ter)
19g.3595862C=CA2318945889TBXA2Rc.858G= (p.Thr286=)
c.469G= (p.Gly157=)
19g.3595862C>GCA403331020TBXA2Rc.858G>C (p.Thr286=)
c.469G>C (p.Gly157Arg)
19g.3595862C>TCA304367921TBXA2Rc.858G>A (p.Thr286=)
c.469G>A (p.Gly157Arg)
 dbSNP gnomAD v3 gnomAD v4
19g.3595863G>ACA9080753TBXA2Rc.857C>T (p.Thr286Met)
c.468C>T (p.His156=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595863G>CCA403331023TBXA2Rc.857C>G (p.Thr286Arg)
c.468C>G (p.His156Gln)
 dbSNP gnomAD v3 gnomAD v4
19g.3595863G=CA2318945890TBXA2Rc.857C= (p.Thr286=)
c.468C= (p.His156=)
19g.3595863G>TCA403331026TBXA2Rc.857C>A (p.Thr286Lys)
c.468C>A (p.His156Gln)
 COSMIC COSMIC
19g.3595864T>ACA403331027TBXA2Rc.856A>T (p.Thr286Ser)
c.467A>T (p.His156Leu)
19g.3595864T>CCA403331029TBXA2Rc.856A>G (p.Thr286Ala)
c.467A>G (p.His156Arg)
19g.3595864T>GCA403331032TBXA2Rc.856A>C (p.Thr286Pro)
c.467A>C (p.His156Pro)
19g.3595864_3595865delinsCACA645611085TBXA2Rc.855_856delinsTG (p.Thr286Ala)
c.466_467delinsTG (p.His156Cys)
 COSMIC
19g.3595865G>ACA9080754TBXA2Rc.855C>T (p.Thr285=)
c.466C>T (p.His156Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595865G>CCA403331036TBXA2Rc.855C>G (p.Thr285=)
c.466C>G (p.His156Asp)
19g.3595865G=CA2318945891TBXA2Rc.855C= (p.Thr285=)
c.466C= (p.His156=)
19g.3595865G>TCA403331037TBXA2Rc.855C>A (p.Thr285=)
c.466C>A (p.His156Asn)
19g.3595866G>ACA403331039TBXA2Rc.854C>T (p.Thr285Ile)
c.465C>T (p.His155=)
 gnomAD v4
19g.3595866G>CCA403331041TBXA2Rc.854C>G (p.Thr285Ser)
c.465C>G (p.His155Gln)
19g.3595866G=CA2318945892TBXA2Rc.854C= (p.Thr285=)
c.465C= (p.His155=)
19g.3595866G>TCA9080755TBXA2Rc.854C>A (p.Thr285Asn)
c.465C>A (p.His155Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595867T>ACA403331048TBXA2Rc.853A>T (p.Thr285Ser)
c.464A>T (p.His155Leu)
19g.3595867T>CCA403331046TBXA2Rc.853A>G (p.Thr285Ala)
c.464A>G (p.His155Arg)
 dbSNP
19g.3595867T>GCA403331044TBXA2Rc.853A>C (p.Thr285Pro)
c.464A>C (p.His155Pro)
19g.3595868G>ACA304367925TBXA2Rc.852C>T (p.Arg284=)
c.463C>T (p.His155Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.3595868G>CCA9080756TBXA2Rc.852C>G (p.Arg284=)
c.463C>G (p.His155Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595868G=CA2318945893TBXA2Rc.852C= (p.Arg284=)
c.463C= (p.His155=)
19g.3595868G>TCA403331053TBXA2Rc.852C>A (p.Arg284=)
c.463C>A (p.His155Asn)
19g.3595869C>ACA403331056TBXA2Rc.851G>T (p.Arg284Leu)
c.462G>T (p.Pro154=)
 gnomAD v4
19g.3595869C=CA2318945894TBXA2Rc.851G= (p.Arg284=)
c.462G= (p.Pro154=)
19g.3595869C>GCA403331059TBXA2Rc.851G>C (p.Arg284Pro)
c.462G>C (p.Pro154=)
 dbSNP gnomAD v2 gnomAD v4
19g.3595869C>TCA9080757TBXA2Rc.851G>A (p.Arg284His)
c.462G>A (p.Pro154=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595870G>ACA9080758TBXA2Rc.850C>T (p.Arg284Cys)
c.461C>T (p.Pro154Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595870G>CCA403331065TBXA2Rc.850C>G (p.Arg284Gly)
c.461C>G (p.Pro154Arg)
 gnomAD v4
19g.3595870G=CA2318945895TBXA2Rc.850C= (p.Arg284=)
c.461C= (p.Pro154=)
19g.3595870G>TCA403331068TBXA2Rc.850C>A (p.Arg284Ser)
c.461C>A (p.Pro154Gln)
 gnomAD v4
19g.3595871G>ACA403331070TBXA2Rc.849C>T (p.Ser283=)
c.460C>T (p.Pro154Ser)
 dbSNP gnomAD v2 gnomAD v4
19g.3595871G>CCA403331071TBXA2Rc.849C>G (p.Ser283=)
c.460C>G (p.Pro154Ala)
19g.3595871G=CA2318945896TBXA2Rc.849C= (p.Ser283=)
c.460C= (p.Pro154=)
19g.3595871G>TCA403331073TBXA2Rc.849C>A (p.Ser283=)
c.460C>A (p.Pro154Thr)
 gnomAD v4
19g.3595872G>ACA403331076TBXA2Rc.848C>T (p.Ser283Phe)
c.459C>T (p.Val153=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.3595872G>CCA304367929TBXA2Rc.848C>G (p.Ser283Cys)
c.459C>G (p.Val153=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.3595872G=CA2318945897TBXA2Rc.848C= (p.Ser283=)
c.459C= (p.Val153=)
19g.3595872G>TCA9080759TBXA2Rc.848C>A (p.Ser283Tyr)
c.459C>A (p.Val153=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595873A>CCA403331082TBXA2Rc.847T>G (p.Ser283Ala)
c.458T>G (p.Val153Gly)
19g.3595873A>GCA403331088TBXA2Rc.847T>C (p.Ser283Pro)
c.458T>C (p.Val153Ala)
 gnomAD v4
19g.3595873A>TCA403331086TBXA2Rc.847T>A (p.Ser283Thr)
c.458T>A (p.Val153Asp)
19g.3595874C>ACA403331090TBXA2Rc.846G>T (p.Leu282=)
c.457G>T (p.Val153Phe)
 gnomAD v4
19g.3595874C=CA2318945898TBXA2Rc.846G= (p.Leu282=)
c.457G= (p.Val153=)
19g.3595874C>GCA403331093TBXA2Rc.846G>C (p.Leu282=)
c.457G>C (p.Val153Leu)
 gnomAD v4
19g.3595874C>TCA304367931TBXA2Rc.846G>A (p.Leu282=)
c.457G>A (p.Val153Ile)
 dbSNP gnomAD v2 gnomAD v4
19g.3595875A>CCA403331095TBXA2Rc.845T>G (p.Leu282Arg)
c.456T>G (p.Ala152=)
19g.3595875A>GCA403331097TBXA2Rc.845T>C (p.Leu282Pro)
c.456T>C (p.Ala152=)
 gnomAD v4
19g.3595875A>TCA403331099TBXA2Rc.845T>A (p.Leu282Gln)
c.456T>A (p.Ala152=)
19g.3595876G>ACA403331101TBXA2Rc.844C>T (p.Leu282=)
c.455C>T (p.Ala152Val)
19g.3595876G>CCA403331103TBXA2Rc.844C>G (p.Leu282Val)
c.455C>G (p.Ala152Gly)
19g.3595876G>TCA403331104TBXA2Rc.844C>A (p.Leu282Met)
c.455C>A (p.Ala152Asp)
19g.3595877C>ACA403331106TBXA2Rc.843G>T (p.Gln281His)
c.454G>T (p.Ala152Ser)
19g.3595877C>GCA403331107TBXA2Rc.843G>C (p.Gln281His)
c.454G>C (p.Ala152Pro)
19g.3595877C>TCA403331109TBXA2Rc.843G>A (p.Gln281=)
c.454G>A (p.Ala152Thr)
19g.3595878T>ACA403331111TBXA2Rc.842A>T (p.Gln281Leu)
c.453A>T (p.Ala151=)
19g.3595878T>CCA403331113TBXA2Rc.842A>G (p.Gln281Arg)
c.453A>G (p.Ala151=)
19g.3595878T>GCA403331114TBXA2Rc.842A>C (p.Gln281Pro)
c.453A>C (p.Ala151=)
 dbSNP gnomAD v2 gnomAD v4
19g.3595878T=CA2318945899TBXA2Rc.842A= (p.Gln281=)
c.453A= (p.Ala151=)
19g.3595879G>ACA403331115TBXA2Rc.841C>T (p.Gln281Ter)
c.452C>T (p.Ala151Val)
19g.3595879G>CCA403331118TBXA2Rc.841C>G (p.Gln281Glu)
c.452C>G (p.Ala151Gly)
19g.3595879G>TCA403331116TBXA2Rc.841C>A (p.Gln281Lys)
c.452C>A (p.Ala151Glu)
 gnomAD v4
19g.3595880C>ACA403331120TBXA2Rc.840G>T (p.Gly280=)
c.451G>T (p.Ala151Ser)
19g.3595880C=CA2318945900TBXA2Rc.840G= (p.Gly280=)
c.451G= (p.Ala151=)
19g.3595880C>GCA403331122TBXA2Rc.840G>C (p.Gly280=)
c.451G>C (p.Ala151Pro)
19g.3595880C>TCA9080760TBXA2Rc.840G>A (p.Gly280=)
c.451G>A (p.Ala151Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595880_3595881insTCACGGCACCATGAGCTGCA2584493823TBXA2Rc.839_840insCAGCTCATGGTGCCGTGA (p.Gly280_Gln281insSerSerTrpCysArgGlu)
c.450_451insCAGCTCATGGTGCCGTGA
 gnomAD v4
19g.3595881C>ACA403331124TBXA2Rc.839G>T (p.Gly280Val)
c.450G>T (p.Arg150=)
19g.3595881C=CA2318945901TBXA2Rc.839G= (p.Gly280=)
c.450G= (p.Arg150=)
19g.3595881C>GCA403331126TBXA2Rc.839G>C (p.Gly280Ala)
c.450G>C (p.Arg150=)
 dbSNP
19g.3595881C>TCA403331127TBXA2Rc.839G>A (p.Gly280Glu)
c.450G>A (p.Arg150=)
 gnomAD v4
19g.3595882C>ACA403331130TBXA2Rc.838G>T (p.Gly280Trp)
c.449G>T (p.Arg150Leu)
 dbSNP gnomAD v2
19g.3595882C=CA2318945902TBXA2Rc.838G= (p.Gly280=)
c.449G= (p.Arg150=)
19g.3595882C>GCA403331131TBXA2Rc.838G>C (p.Gly280Arg)
c.449G>C (p.Arg150Pro)
 gnomAD v4
19g.3595882C>TCA9080761TBXA2Rc.838G>A (p.Gly280Arg)
c.449G>A (p.Arg150Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595883G>ACA9080762TBXA2Rc.837C>T (p.Ala279=)
c.448C>T (p.Arg150Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595883G>CCA403331133TBXA2Rc.837C>G (p.Ala279=)
c.448C>G (p.Arg150Gly)
 dbSNP
19g.3595883G=CA2318945903TBXA2Rc.837C= (p.Ala279=)
c.448C= (p.Arg150=)
19g.3595883G>TCA505155050TBXA2Rc.837C>A (p.Ala279=)
c.448C>A (p.Arg150=)
 dbSNP gnomAD v3 gnomAD v4
19g.3595883_3595884insTGGTCA2584493824TBXA2Rc.836_837insACCA (p.Gly280ProfsTer?)
c.447_448insACCA (p.Arg150ThrfsTer?)
 gnomAD v4
19g.3595884G>ACA403331136TBXA2Rc.836C>T (p.Ala279Val)
c.447C>T (p.Arg149=)
19g.3595884G>CCA403331138TBXA2Rc.836C>G (p.Ala279Gly)
c.447C>G (p.Arg149=)
19g.3595884G=CA2318945904TBXA2Rc.836C= (p.Ala279=)
c.447C= (p.Arg149=)
19g.3595884G>TCA403331139TBXA2Rc.836C>A (p.Ala279Asp)
c.447C>A (p.Arg149=)
 dbSNP gnomAD v2 gnomAD v4
19g.3595885C>ACA403331140TBXA2Rc.835G>T (p.Ala279Ser)
c.446G>T (p.Arg149Leu)
 gnomAD v4
19g.3595885C=CA2318945905TBXA2Rc.835G= (p.Ala279=)
c.446G= (p.Arg149=)
19g.3595885C>GCA403331141TBXA2Rc.835G>C (p.Ala279Pro)
c.446G>C (p.Arg149Pro)
19g.3595885C>TCA9080763TBXA2Rc.835G>A (p.Ala279Thr)
c.446G>A (p.Arg149His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595886G>ACA9080764TBXA2Rc.834C>T (p.Pro278=)
c.445C>T (p.Arg149Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595886G>CCA403331142TBXA2Rc.834C>G (p.Pro278=)
c.445C>G (p.Arg149Gly)
19g.3595886G=CA2318945906TBXA2Rc.834C= (p.Pro278=)
c.445C= (p.Arg149=)
19g.3595886G>TCA403331143TBXA2Rc.834C>A (p.Pro278=)
c.445C>A (p.Arg149Ser)
19g.3595887G>ACA403331145TBXA2Rc.833C>T (p.Pro278Leu)
c.444C>T (p.Pro148=)
 dbSNP gnomAD v4
19g.3595887G>CCA403331146TBXA2Rc.833C>G (p.Pro278Arg)
c.444C>G (p.Pro148=)
 dbSNP gnomAD v4
19g.3595887G=CA2318945907TBXA2Rc.833C= (p.Pro278=)
c.444C= (p.Pro148=)
19g.3595887G>TCA403331148TBXA2Rc.833C>A (p.Pro278His)
c.444C>A (p.Pro148=)
 gnomAD v4
19g.3595888G>ACA9080765TBXA2Rc.832C>T (p.Pro278Ser)
c.443C>T (p.Pro148Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595888G>CCA403331150TBXA2Rc.832C>G (p.Pro278Ala)
c.443C>G (p.Pro148Arg)
 dbSNP
19g.3595888G=CA2318945908TBXA2Rc.832C= (p.Pro278=)
c.443C= (p.Pro148=)
19g.3595888G>TCA403331152TBXA2Rc.832C>A (p.Pro278Thr)
c.443C>A (p.Pro148His)
 gnomAD v4
19g.3595889G>ACA403331154TBXA2Rc.831C>T (p.Ser277=)
c.442C>T (p.Pro148Ser)
 ClinVar dbSNP gnomAD v4
19g.3595889G>CCA403331156TBXA2Rc.831C>G (p.Ser277Arg)
c.442C>G (p.Pro148Ala)
19g.3595889G=CA2318945909TBXA2Rc.831C= (p.Ser277=)
c.442C= (p.Pro148=)
19g.3595889G>TCA9080766TBXA2Rc.831C>A (p.Ser277Arg)
c.442C>A (p.Pro148Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595890C>ACA403331158TBXA2Rc.830G>T (p.Ser277Ile)
c.441G>T (p.Glu147Asp)
 gnomAD v4 COSMIC COSMIC
19g.3595890C>GCA403331159TBXA2Rc.830G>C (p.Ser277Thr)
c.441G>C (p.Glu147Asp)
19g.3595890C>TCA403331162TBXA2Rc.830G>A (p.Ser277Asn)
c.441G>A (p.Glu147=)
19g.3595891T>ACA403331164TBXA2Rc.829A>T (p.Ser277Cys)
c.440A>T (p.Glu147Val)
19g.3595891T>CCA403331166TBXA2Rc.829A>G (p.Ser277Gly)
c.440A>G (p.Glu147Gly)
19g.3595891T>GCA403331167TBXA2Rc.829A>C (p.Ser277Arg)
c.440A>C (p.Glu147Ala)
19g.3595892C>ACA403331168TBXA2Rc.828G>T (p.Met276Ile)
c.439G>T (p.Glu147Ter)
19g.3595892C=CA2318945910TBXA2Rc.828G= (p.Met276=)
c.439G= (p.Glu147=)
19g.3595892C>GCA403331169TBXA2Rc.828G>C (p.Met276Ile)
c.439G>C (p.Glu147Gln)
19g.3595892C>TCA403331171TBXA2Rc.828G>A (p.Met276Ile)
c.439G>A (p.Glu147Lys)
 dbSNP gnomAD v2 gnomAD v4
19g.3595893A=CA2318945911TBXA2Rc.827T= (p.Met276=)
c.438T= (p.His146=)
19g.3595893A>CCA403331176TBXA2Rc.827T>G (p.Met276Arg)
c.438T>G (p.His146Gln)
 gnomAD v4
19g.3595893A>GCA403331177TBXA2Rc.827T>C (p.Met276Thr)
c.438T>C (p.His146=)
 dbSNP gnomAD v2 gnomAD v4
19g.3595893A>TCA403331174TBXA2Rc.827T>A (p.Met276Lys)
c.438T>A (p.His146Gln)
19g.3595894T>ACA403331179TBXA2Rc.826A>T (p.Met276Leu)
c.437A>T (p.His146Leu)
19g.3595894T>CCA403331181TBXA2Rc.826A>G (p.Met276Val)
c.437A>G (p.His146Arg)
 gnomAD v4
19g.3595894T>GCA403331183TBXA2Rc.826A>C (p.Met276Leu)
c.437A>C (p.His146Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.3595894T=CA2318945912TBXA2Rc.826A= (p.Met276=)
c.437A= (p.His146=)
19g.3595895G>ACA403331185TBXA2Rc.825C>T (p.Ala275=)
c.436C>T (p.His146Tyr)
 gnomAD v4
19g.3595895G>CCA403331187TBXA2Rc.825C>G (p.Ala275=)
c.436C>G (p.His146Asp)
19g.3595895G>TCA403331189TBXA2Rc.825C>A (p.Ala275=)
c.436C>A (p.His146Asn)
 gnomAD v4
19g.3595896G>ACA403331194TBXA2Rc.824C>T (p.Ala275Val)
c.435C>T (p.Cys145=)
 dbSNP gnomAD v4
19g.3595896G>CCA403331190TBXA2Rc.824C>G (p.Ala275Gly)
c.435C>G (p.Cys145Trp)
19g.3595896G=CA2318945913TBXA2Rc.824C= (p.Ala275=)
c.435C= (p.Cys145=)
19g.3595896G>TCA403331192TBXA2Rc.824C>A (p.Ala275Asp)
c.435C>A (p.Cys145Ter)
 gnomAD v4
19g.3595897C>ACA403331196TBXA2Rc.823G>T (p.Ala275Ser)
c.434G>T (p.Cys145Phe)
 gnomAD v4
19g.3595897C=CA2318945914TBXA2Rc.823G= (p.Ala275=)
c.434G= (p.Cys145=)
19g.3595897C>GCA9080767TBXA2Rc.823G>C (p.Ala275Pro)
c.434G>C (p.Cys145Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595897C>TCA403331199TBXA2Rc.823G>A (p.Ala275Thr)
c.434G>A (p.Cys145Tyr)
 gnomAD v4
19g.3595898A=CA2318945915TBXA2Rc.822T= (p.Pro274=)
c.433T= (p.Cys145=)
19g.3595898A>CCA403331201TBXA2Rc.822T>G (p.Pro274=)
c.433T>G (p.Cys145Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.3595898A>GCA403331202TBXA2Rc.822T>C (p.Pro274=)
c.433T>C (p.Cys145Arg)
19g.3595898A>TCA403331204TBXA2Rc.822T>A (p.Pro274=)
c.433T>A (p.Cys145Ser)
19g.3595899G>ACA403331206TBXA2Rc.821C>T (p.Pro274Leu)
c.432C>T (p.Ala144=)
19g.3595899G>CCA403331209TBXA2Rc.821C>G (p.Pro274Arg)
c.432C>G (p.Ala144=)
19g.3595899G>TCA403331208TBXA2Rc.821C>A (p.Pro274His)
c.432C>A (p.Ala144=)
19g.3595900G>ACA403331212TBXA2Rc.820C>T (p.Pro274Ser)
c.431C>T (p.Ala144Val)
19g.3595900G>CCA403331214TBXA2Rc.820C>G (p.Pro274Ala)
c.431C>G (p.Ala144Gly)
 dbSNP
19g.3595900G=CA2318945916TBXA2Rc.820C= (p.Pro274=)
c.431C= (p.Ala144=)
19g.3595900G>TCA403331215TBXA2Rc.820C>A (p.Pro274Thr)
c.431C>A (p.Ala144Asp)
 gnomAD v4
19g.3595901C>ACA403331217TBXA2Rc.819G>T (p.Pro273=)
c.430G>T (p.Ala144Ser)
19g.3595901C=CA2318945917TBXA2Rc.819G= (p.Pro273=)
c.430G= (p.Ala144=)
19g.3595901C>GCA403331219TBXA2Rc.819G>C (p.Pro273=)
c.430G>C (p.Ala144Pro)
 gnomAD v4
19g.3595901C>TCA304367938TBXA2Rc.819G>A (p.Pro273=)
c.430G>A (p.Ala144Thr)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.3595902G>ACA9080768TBXA2Rc.818C>T (p.Pro273Leu)
c.429C>T (p.Pro143=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595902G>CCA403331221TBXA2Rc.818C>G (p.Pro273Arg)
c.429C>G (p.Pro143=)
19g.3595902G=CA2318945918TBXA2Rc.818C= (p.Pro273=)
c.429C= (p.Pro143=)
19g.3595902G>TCA403331223TBXA2Rc.818C>A (p.Pro273Gln)
c.429C>A (p.Pro143=)
19g.3595903G>ACA9080769TBXA2Rc.817C>T (p.Pro273Ser)
c.428C>T (p.Pro143Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595903G>CCA403331226TBXA2Rc.817C>G (p.Pro273Ala)
c.428C>G (p.Pro143Arg)
 gnomAD v4
19g.3595903G=CA2318945919TBXA2Rc.817C= (p.Pro273=)
c.428C= (p.Pro143=)
19g.3595903G>TCA403331228TBXA2Rc.817C>A (p.Pro273Thr)
c.428C>A (p.Pro143His)
19g.3595904G>ACA403331230TBXA2Rc.816C>T (p.Asn272=)
c.427C>T (p.Pro143Ser)
19g.3595904G>CCA403331233TBXA2Rc.816C>G (p.Asn272Lys)
c.427C>G (p.Pro143Ala)
 gnomAD v4
19g.3595904G=CA2318945920TBXA2Rc.816C= (p.Asn272=)
c.427C= (p.Pro143=)
19g.3595904G>TCA403331232TBXA2Rc.816C>A (p.Asn272Lys)
c.427C>A (p.Pro143Thr)
 dbSNP gnomAD v2 gnomAD v4
19g.3595905T>ACA403331235TBXA2Rc.815A>T (p.Asn272Ile)
c.426A>T (p.Lys142Asn)
19g.3595905T>CCA403331236TBXA2Rc.815A>G (p.Asn272Ser)
c.426A>G (p.Lys142=)
19g.3595905T>GCA304367941TBXA2Rc.815A>C (p.Asn272Thr)
c.426A>C (p.Lys142Asn)
 dbSNP gnomAD v3 gnomAD v4
19g.3595905T=CA2318945921TBXA2Rc.815A= (p.Asn272=)
c.426A= (p.Lys142=)
19g.3595906T>ACA403331238TBXA2Rc.814A>T (p.Asn272Tyr)
c.425A>T (p.Lys142Ile)
19g.3595906T>CCA403331239TBXA2Rc.814A>G (p.Asn272Asp)
c.425A>G (p.Lys142Arg)
19g.3595906T>GCA403331242TBXA2Rc.814A>C (p.Asn272His)
c.425A>C (p.Lys142Thr)
19g.3595907T>ACA403331246TBXA2Rc.813A>T (p.Arg271=)
c.424A>T (p.Lys142Ter)
19g.3595907T>CCA403331248TBXA2Rc.813A>G (p.Arg271=)
c.424A>G (p.Lys142Glu)
19g.3595907T>GCA403331249TBXA2Rc.813A>C (p.Arg271=)
c.424A>C (p.Lys142Gln)
19g.3595908C>ACA403331251TBXA2Rc.812G>T (p.Arg271Leu)
c.423G>T (p.Ala141=)
19g.3595908C=CA2318945922TBXA2Rc.812G= (p.Arg271=)
c.423G= (p.Ala141=)
19g.3595908C>GCA403331252TBXA2Rc.812G>C (p.Arg271Pro)
c.423G>C (p.Ala141=)
19g.3595908C>TCA403331254TBXA2Rc.812G>A (p.Arg271Gln)
c.423G>A (p.Ala141=)
 dbSNP gnomAD v4
19g.3595909G>ACA403331259TBXA2Rc.811C>T (p.Arg271Ter)
c.422C>T (p.Ala141Val)
 ClinVar gnomAD v4
19g.3595909G>CCA403331257TBXA2Rc.811C>G (p.Arg271Gly)
c.422C>G (p.Ala141Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.3595909G=CA2318945923TBXA2Rc.811C= (p.Arg271=)
c.422C= (p.Ala141=)
19g.3595909G>TCA9080770TBXA2Rc.811C>A (p.Arg271=)
c.422C>A (p.Ala141Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595910C>ACA9080771TBXA2Rc.810G>T (p.Leu270=)
c.421G>T (p.Ala141Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595910C=CA2318945924TBXA2Rc.810G= (p.Leu270=)
c.421G= (p.Ala141=)
19g.3595910C>GCA403331261TBXA2Rc.810G>C (p.Leu270=)
c.421G>C (p.Ala141Pro)
19g.3595910C>TCA403331262TBXA2Rc.810G>A (p.Leu270=)
c.421G>A (p.Ala141Thr)
 dbSNP
19g.3595911A>CCA403331265TBXA2Rc.809T>G (p.Leu270Arg)
c.420T>G (p.Ala140=)
19g.3595911A>GCA403331266TBXA2Rc.809T>C (p.Leu270Pro)
c.420T>C (p.Ala140=)
19g.3595911A>TCA403331267TBXA2Rc.809T>A (p.Leu270Gln)
c.420T>A (p.Ala140=)
19g.3595912G>ACA403331268TBXA2Rc.808C>T (p.Leu270=)
c.419C>T (p.Ala140Val)
 gnomAD v4
19g.3595912G>CCA403331270TBXA2Rc.808C>G (p.Leu270Val)
c.419C>G (p.Ala140Gly)
19g.3595912G>TCA403331272TBXA2Rc.808C>A (p.Leu270Met)
c.419C>A (p.Ala140Asp)
 gnomAD v4
19g.3595913C>ACA403331274TBXA2Rc.807G>T (p.Val269=)
c.418G>T (p.Ala140Ser)
 gnomAD v4
19g.3595913C=CA2318945925TBXA2Rc.807G= (p.Val269=)
c.418G= (p.Ala140=)
19g.3595913C>GCA403331275TBXA2Rc.807G>C (p.Val269=)
c.418G>C (p.Ala140Pro)
19g.3595913C>TCA403331277TBXA2Rc.807G>A (p.Val269=)
c.418G>A (p.Ala140Thr)
 dbSNP gnomAD v2 gnomAD v4
19g.3595914A=CA2318945926TBXA2Rc.806T= (p.Val269=)
c.417T= (p.Ser139=)
19g.3595914A>CCA403331284TBXA2Rc.806T>G (p.Val269Gly)
c.417T>G (p.Ser139Arg)
19g.3595914A>GCA403331282TBXA2Rc.806T>C (p.Val269Ala)
c.417T>C (p.Ser139=)
 gnomAD v4
19g.3595914A>TCA304367944TBXA2Rc.806T>A (p.Val269Glu)
c.417T>A (p.Ser139Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.3595915C>ACA403331286TBXA2Rc.805G>T (p.Val269Leu)
c.416G>T (p.Ser139Ile)
 gnomAD v4
19g.3595915C=CA2318945927TBXA2Rc.805G= (p.Val269=)
c.416G= (p.Ser139=)
19g.3595915C>GCA403331288TBXA2Rc.805G>C (p.Val269Leu)
c.416G>C (p.Ser139Thr)
19g.3595915C>TCA9080772TBXA2Rc.805G>A (p.Val269Met)
c.416G>A (p.Ser139Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595916T>ACA403331289TBXA2Rc.804A>T (p.Thr268=)
c.415A>T (p.Ser139Cys)
 gnomAD v4
19g.3595916T>CCA403331292TBXA2Rc.804A>G (p.Thr268=)
c.415A>G (p.Ser139Gly)
 gnomAD v4
19g.3595916T>GCA403331290TBXA2Rc.804A>C (p.Thr268=)
c.415A>C (p.Ser139Arg)
19g.3595917G>ACA403331294TBXA2Rc.803C>T (p.Thr268Ile)
c.414C>T (p.Asp138=)
 dbSNP gnomAD v2 gnomAD v4
19g.3595917G>CCA403331297TBXA2Rc.803C>G (p.Thr268Arg)
c.414C>G (p.Asp138Glu)
19g.3595917G=CA2318945928TBXA2Rc.803C= (p.Thr268=)
c.414C= (p.Asp138=)
19g.3595917G>TCA403331295TBXA2Rc.803C>A (p.Thr268Lys)
c.414C>A (p.Asp138Glu)
19g.3595918T>ACA403331299TBXA2Rc.802A>T (p.Thr268Ser)
c.413A>T (p.Asp138Val)
19g.3595918T>CCA403331302TBXA2Rc.802A>G (p.Thr268Ala)
c.413A>G (p.Asp138Gly)
 gnomAD v4
19g.3595918T>GCA403331300TBXA2Rc.802A>C (p.Thr268Pro)
c.413A>C (p.Asp138Ala)
19g.3595919C>ACA403331303TBXA2Rc.801G>T (p.Gln267His)
c.412G>T (p.Asp138Tyr)
 gnomAD v4
19g.3595919C=CA2318945929TBXA2Rc.801G= (p.Gln267=)
c.412G= (p.Asp138=)
19g.3595919C>GCA403331305TBXA2Rc.801G>C (p.Gln267His)
c.412G>C (p.Asp138His)
19g.3595919C>TCA9080773TBXA2Rc.801G>A (p.Gln267=)
c.412G>A (p.Asp138Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched