Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.3595686T>CCA2318945783TBXA2Rc.*2A>G (n.*2A>G)
c.983+51A>G (n.983+51A>G)
c.645A>G (p.Gly215=)
 dbSNP gnomAD v4
19g.3595686T>GCA9080707TBXA2Rc.*2A>C (n.*2A>C)
c.983+51A>C (n.983+51A>C)
c.645A>C (p.Gly215=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595686T=CA2318945782TBXA2Rc.*2A= (n.*2A=)
c.983+51A= (n.983+51A=)
c.645A= (p.Gly215=)
19g.3595687C>ACA403329567TBXA2Rc.*1G>T (n.*1G>T)
c.983+50G>T (n.983+50G>T)
c.644G>T (p.Gly215Val)
 gnomAD v4
19g.3595687C=CA2318945784TBXA2Rc.*1G= (n.*1G=)
c.983+50G= (n.983+50G=)
c.644G= (p.Gly215=)
19g.3595687C>GCA403329570TBXA2Rc.*1G>C (n.*1G>C)
c.983+50G>C (n.983+50G>C)
c.644G>C (p.Gly215Ala)
19g.3595687C>TCA9080708TBXA2Rc.*1G>A (n.*1G>A)
c.983+50G>A (n.983+50G>A)
c.644G>A (p.Gly215Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595688C>ACA403329576TBXA2Rc.1032G>T (p.Ter344Tyr)
c.983+49G>T (n.983+49G>T)
c.643G>T (p.Gly215Ter)
 gnomAD v4
19g.3595688C=CA2318945785TBXA2Rc.1032G= (p.Ter344=)
c.983+49G= (n.983+49G=)
c.643G= (p.Gly215=)
19g.3595688C>GCA403329580TBXA2Rc.1032G>C (p.Ter344Tyr)
c.983+49G>C (n.983+49G>C)
c.643G>C (p.Gly215Arg)
19g.3595688C>TCA304367874TBXA2Rc.1032G>A (p.Ter344=)
c.983+49G>A (n.983+49G>A)
c.643G>A (p.Gly215Arg)
 dbSNP gnomAD v3 gnomAD v4
19g.3595689T>ACA403329584TBXA2Rc.1031A>T (p.Ter344Leu)
c.983+48A>T (n.983+48A>T)
c.642A>T (p.Val214=)
19g.3595689T>CCA403329587TBXA2Rc.1031A>G (p.Ter344Trp)
c.983+48A>G (n.983+48A>G)
c.642A>G (p.Val214=)
 gnomAD v4
19g.3595689T>GCA403329590TBXA2Rc.1031A>C (p.Ter344Ser)
c.983+48A>C (n.983+48A>C)
c.642A>C (p.Val214=)
19g.3595690A=CA2318945786TBXA2Rc.1030T= (p.Ter344=)
c.983+47T= (n.983+47T=)
c.641T= (p.Val214=)
19g.3595690A>CCA403329599TBXA2Rc.1030T>G (p.Ter344Glu)
c.983+47T>G (n.983+47T>G)
c.641T>G (p.Val214Gly)
19g.3595690A>GCA9080709TBXA2Rc.1030T>C (p.Ter344Gln)
c.983+47T>C (n.983+47T>C)
c.641T>C (p.Val214Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595690A>TCA403329596TBXA2Rc.1030T>A (p.Ter344Lys)
c.983+47T>A (n.983+47T>A)
c.641T>A (p.Val214Glu)
 gnomAD v4
19g.3595691C>ACA403329607TBXA2Rc.1029G>T (p.Gln343His)
c.983+46G>T (n.983+46G>T)
c.640G>T (p.Val214Leu)
19g.3595691C=CA2318945787TBXA2Rc.1029G= (p.Gln343=)
c.983+46G= (n.983+46G=)
c.640G= (p.Val214=)
19g.3595691C>GCA403329612TBXA2Rc.1029G>C (p.Gln343His)
c.983+46G>C (n.983+46G>C)
c.640G>C (p.Val214Leu)
 gnomAD v4
19g.3595691C>TCA403329614TBXA2Rc.1029G>A (p.Gln343=)
c.983+46G>A (n.983+46G>A)
c.640G>A (p.Val214Ile)
 dbSNP gnomAD v2
19g.3595692T>ACA403329622TBXA2Rc.1028A>T (p.Gln343Leu)
c.983+45A>T (n.983+45A>T)
c.639A>T (p.Ala213=)
19g.3595692T>CCA9080710TBXA2Rc.1028A>G (p.Gln343Arg)
c.983+45A>G (n.983+45A>G)
c.639A>G (p.Ala213=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595692T>GCA403329626TBXA2Rc.1028A>C (p.Gln343Pro)
c.983+45A>C (n.983+45A>C)
c.639A>C (p.Ala213=)
19g.3595692T=CA2318945788TBXA2Rc.1028A= (p.Gln343=)
c.983+45A= (n.983+45A=)
c.639A= (p.Ala213=)
19g.3595693G>ACA403329630TBXA2Rc.1027C>T (p.Gln343Ter)
c.983+44C>T (n.983+44C>T)
c.638C>T (p.Ala213Val)
 dbSNP gnomAD v4
19g.3595693G>CCA403329631TBXA2Rc.1027C>G (p.Gln343Glu)
c.983+44C>G (n.983+44C>G)
c.638C>G (p.Ala213Gly)
19g.3595693G=CA2318945789TBXA2Rc.1027C= (p.Gln343=)
c.983+44C= (n.983+44C=)
c.638C= (p.Ala213=)
19g.3595693G>TCA403329634TBXA2Rc.1027C>A (p.Gln343Lys)
c.983+44C>A (n.983+44C>A)
c.638C>A (p.Ala213Glu)
19g.3595694C>ACA403329639TBXA2Rc.1026G>T (p.Leu342=)
c.983+43G>T (n.983+43G>T)
c.637G>T (p.Ala213Ser)
19g.3595694C=CA2318945790TBXA2Rc.1026G= (p.Leu342=)
c.983+43G= (n.983+43G=)
c.637G= (p.Ala213=)
19g.3595694C>GCA403329650TBXA2Rc.1026G>C (p.Leu342=)
c.983+43G>C (n.983+43G>C)
c.637G>C (p.Ala213Pro)
19g.3595694C>TCA9080711TBXA2Rc.1026G>A (p.Leu342=)
c.983+43G>A (n.983+43G>A)
c.637G>A (p.Ala213Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595695A=CA2318945791TBXA2Rc.1025T= (p.Leu342=)
c.983+42T= (n.983+42T=)
c.636T= (p.Ala212=)
19g.3595695A>CCA403329658TBXA2Rc.1025T>G (p.Leu342Arg)
c.983+42T>G (n.983+42T>G)
c.636T>G (p.Ala212=)
19g.3595695A>GCA403329662TBXA2Rc.1025T>C (p.Leu342Pro)
c.983+42T>C (n.983+42T>C)
c.636T>C (p.Ala212=)
19g.3595695A>TCA403329655TBXA2Rc.1025T>A (p.Leu342Gln)
c.983+42T>A (n.983+42T>A)
c.636T>A (p.Ala212=)
 dbSNP
19g.3595696G>ACA403329667TBXA2Rc.1024C>T (p.Leu342=)
c.983+41C>T (n.983+41C>T)
c.635C>T (p.Ala212Val)
19g.3595696G>CCA403329670TBXA2Rc.1024C>G (p.Leu342Val)
c.983+41C>G (n.983+41C>G)
c.635C>G (p.Ala212Gly)
19g.3595696G=CA2318945792TBXA2Rc.1024C= (p.Leu342=)
c.983+41C= (n.983+41C=)
c.635C= (p.Ala212=)
19g.3595696G>TCA403329674TBXA2Rc.1024C>A (p.Leu342Met)
c.983+41C>A (n.983+41C>A)
c.635C>A (p.Ala212Asp)
 dbSNP
19g.3595696_3595697delinsGCCA2318945793TBXA2Rc.1023_1024delinsGC (p.Gly341=)
c.983+40_983+41delinsGC (n.983+40_983+41delinsGC)
c.634_635delinsGC (p.Ala212=)
19g.3595697C>ACA403329680TBXA2Rc.1023G>T (p.Gly341=)
c.983+40G>T (n.983+40G>T)
c.634G>T (p.Ala212Ser)
 gnomAD v4
19g.3595697C>GCA403329684TBXA2Rc.1023G>C (p.Gly341=)
c.983+40G>C (n.983+40G>C)
c.634G>C (p.Ala212Pro)
19g.3595697C>TCA403329687TBXA2Rc.1023G>A (p.Gly341=)
c.983+40G>A (n.983+40G>A)
c.634G>A (p.Ala212Thr)
 gnomAD v4
19g.3595699delCA2318945794TBXA2Rc.1023del (p.Leu342CysfsTer28)
c.983+40del (n.983+40del)
c.634del (p.Ala212LeufsTer3)
 dbSNP
19g.3595698C>ACA403329695TBXA2Rc.1022G>T (p.Gly341Val)
c.983+39G>T (n.983+39G>T)
c.633G>T (p.Arg211=)
19g.3595698C=CA2318945795TBXA2Rc.1022G= (p.Gly341=)
c.983+39G= (n.983+39G=)
c.633G= (p.Arg211=)
19g.3595698C>GCA403329688TBXA2Rc.1022G>C (p.Gly341Ala)
c.983+39G>C (n.983+39G>C)
c.633G>C (p.Arg211=)
 dbSNP
19g.3595698C>TCA403329692TBXA2Rc.1022G>A (p.Gly341Glu)
c.983+39G>A (n.983+39G>A)
c.633G>A (p.Arg211=)
 dbSNP gnomAD v4 COSMIC
19g.3595699C>ACA403329698TBXA2Rc.1021G>T (p.Gly341Trp)
c.983+38G>T (n.983+38G>T)
c.632G>T (p.Arg211Leu)
 gnomAD v4
19g.3595699C=CA2318945796TBXA2Rc.1021G= (p.Gly341=)
c.983+38G= (n.983+38G=)
c.632G= (p.Arg211=)
19g.3595699C>GCA403329700TBXA2Rc.1021G>C (p.Gly341Arg)
c.983+38G>C (n.983+38G>C)
c.632G>C (p.Arg211Pro)
 gnomAD v4
19g.3595699C>TCA9080712TBXA2Rc.1021G>A (p.Gly341Arg)
c.983+38G>A (n.983+38G>A)
c.632G>A (p.Arg211Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595701_3595705dupCA881803839TBXA2Rc.1017_1021dup (p.Gly341AlafsTer31)
c.983+34_983+38dup (n.983+34_983+38dup)
c.628_632dup (p.Ala212SerfsTer5)
 dbSNP gnomAD v3 gnomAD v4
19g.3595700_3595706delCA2580096153TBXA2Rc.1015_1021del (p.Arg339GlyfsTer29)
c.983+32_983+38del (n.983+32_983+38del)
c.626_632del (p.Ala209GlyfsTer4)
 ClinVar
19g.3595700G>ACA9080713TBXA2Rc.1020C>T (p.Ser340=)
c.983+37C>T (n.983+37C>T)
c.631C>T (p.Arg211Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595700G>CCA403329711TBXA2Rc.1020C>G (p.Ser340=)
c.983+37C>G (n.983+37C>G)
c.631C>G (p.Arg211Gly)
 gnomAD v4
19g.3595700G=CA2318945797TBXA2Rc.1020C= (p.Ser340=)
c.983+37C= (n.983+37C=)
c.631C= (p.Arg211=)
19g.3595700G>TCA2584493817TBXA2Rc.1020C>A (p.Ser340=)
c.983+37C>A (n.983+37C>A)
c.631C>A (p.Arg211=)
 gnomAD v4
19g.3595700_3595701delCA2584493816TBXA2Rc.1019_1020del (p.Ser340TrpfsTer?)
c.983+36_983+37del (n.983+36_983+37del)
c.630_631del (p.Arg211GlyfsTer29)
 gnomAD v4
19g.3595701G>ACA403329726TBXA2Rc.1019C>T (p.Ser340Phe)
c.983+36C>T (n.983+36C>T)
c.630C>T (p.Leu210=)
 dbSNP gnomAD v4
19g.3595701G>CCA9080714TBXA2Rc.1019C>G (p.Ser340Cys)
c.983+36C>G (n.983+36C>G)
c.630C>G (p.Leu210=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595701G=CA2318945798TBXA2Rc.1019C= (p.Ser340=)
c.983+36C= (n.983+36C=)
c.630C= (p.Leu210=)
19g.3595701G>TCA403329717TBXA2Rc.1019C>A (p.Ser340Tyr)
c.983+36C>A (n.983+36C>A)
c.630C>A (p.Leu210=)
19g.3595702A>CCA403329730TBXA2Rc.1018T>G (p.Ser340Ala)
c.983+35T>G (n.983+35T>G)
c.629T>G (p.Leu210Arg)
19g.3595702A>GCA403329740TBXA2Rc.1018T>C (p.Ser340Pro)
c.983+35T>C (n.983+35T>C)
c.629T>C (p.Leu210Pro)
19g.3595702A>TCA403329734TBXA2Rc.1018T>A (p.Ser340Thr)
c.983+35T>A (n.983+35T>A)
c.629T>A (p.Leu210His)
19g.3595703G>ACA403329743TBXA2Rc.1017C>T (p.Arg339=)
c.983+34C>T (n.983+34C>T)
c.628C>T (p.Leu210Phe)
19g.3595703G>CCA403329755TBXA2Rc.1017C>G (p.Arg339=)
c.983+34C>G (n.983+34C>G)
c.628C>G (p.Leu210Val)
19g.3595703G=CA2318945799TBXA2Rc.1017C= (p.Arg339=)
c.983+34C= (n.983+34C=)
c.628C= (p.Leu210=)
19g.3595703G>TCA9080715TBXA2Rc.1017C>A (p.Arg339=)
c.983+34C>A (n.983+34C>A)
c.628C>A (p.Leu210Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595706_3595710delCA2584493818TBXA2Rc.1013_1017del (p.Gln338LeufsTer?)
c.983+30_983+34del (n.983+30_983+34del)
c.624_628del (p.Ala209ProfsTer?)
 gnomAD v4
19g.3595704C>ACA403329759TBXA2Rc.1016G>T (p.Arg339Leu)
c.983+33G>T (n.983+33G>T)
c.627G>T (p.Ala209=)
 gnomAD v4
19g.3595704C=CA2318945800TBXA2Rc.1016G= (p.Arg339=)
c.983+33G= (n.983+33G=)
c.627G= (p.Ala209=)
19g.3595704C>GCA304367881TBXA2Rc.1016G>C (p.Arg339Pro)
c.983+33G>C (n.983+33G>C)
c.627G>C (p.Ala209=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.3595704C>TCA9080716TBXA2Rc.1016G>A (p.Arg339His)
c.983+33G>A (n.983+33G>A)
c.627G>A (p.Ala209=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595705G>ACA9080717TBXA2Rc.1015C>T (p.Arg339Cys)
c.983+32C>T (n.983+32C>T)
c.626C>T (p.Ala209Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595705G>CCA403329771TBXA2Rc.1015C>G (p.Arg339Gly)
c.983+32C>G (n.983+32C>G)
c.626C>G (p.Ala209Gly)
19g.3595705G=CA2318945801TBXA2Rc.1015C= (p.Arg339=)
c.983+32C= (n.983+32C=)
c.626C= (p.Ala209=)
19g.3595705G>TCA403329774TBXA2Rc.1015C>A (p.Arg339Ser)
c.983+32C>A (n.983+32C>A)
c.626C>A (p.Ala209Glu)
 dbSNP gnomAD v2 gnomAD v4
19g.3595706C>ACA403329781TBXA2Rc.1014G>T (p.Gln338His)
c.983+31G>T (n.983+31G>T)
c.625G>T (p.Ala209Ser)
 gnomAD v4
19g.3595706C>GCA403329784TBXA2Rc.1014G>C (p.Gln338His)
c.983+31G>C (n.983+31G>C)
c.625G>C (p.Ala209Pro)
19g.3595706C>TCA403329789TBXA2Rc.1014G>A (p.Gln338=)
c.983+31G>A (n.983+31G>A)
c.625G>A (p.Ala209Thr)
19g.3595707T>ACA403329793TBXA2Rc.1013A>T (p.Gln338Leu)
c.983+30A>T (n.983+30A>T)
c.624A>T (p.Ala208=)
 ClinVar
19g.3595707T>CCA403329797TBXA2Rc.1013A>G (p.Gln338Arg)
c.983+30A>G (n.983+30A>G)
c.624A>G (p.Ala208=)
19g.3595707T>GCA403329813TBXA2Rc.1013A>C (p.Gln338Pro)
c.983+30A>C (n.983+30A>C)
c.624A>C (p.Ala208=)
19g.3595708G>ACA403329815TBXA2Rc.1012C>T (p.Gln338Ter)
c.983+29C>T (n.983+29C>T)
c.623C>T (p.Ala208Val)
19g.3595708G>CCA403329819TBXA2Rc.1012C>G (p.Gln338Glu)
c.983+29C>G (n.983+29C>G)
c.623C>G (p.Ala208Gly)
19g.3595708G>TCA403329817TBXA2Rc.1012C>A (p.Gln338Lys)
c.983+29C>A (n.983+29C>A)
c.623C>A (p.Ala208Glu)
 gnomAD v4
19g.3595709C>ACA403329821TBXA2Rc.1011G>T (p.Thr337=)
c.983+28G>T (n.983+28G>T)
c.622G>T (p.Ala208Ser)
 dbSNP gnomAD v4
19g.3595709C=CA2318945803TBXA2Rc.1011G= (p.Thr337=)
c.983+28G= (n.983+28G=)
c.622G= (p.Ala208=)
19g.3595709C>GCA403329829TBXA2Rc.1011G>C (p.Thr337=)
c.983+28G>C (n.983+28G>C)
c.622G>C (p.Ala208Pro)
19g.3595709C>TCA304367883TBXA2Rc.1011G>A (p.Thr337=)
c.983+28G>A (n.983+28G>A)
c.622G>A (p.Ala208Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.3595709_3595710delinsCGCA2318945802TBXA2Rc.1010_1011delinsCG (p.Thr337=)
c.983+27_983+28delinsCG (n.983+27_983+28delinsCG)
c.621_622delinsCG (p.His207=)
19g.3595710delCA881803877TBXA2Rc.1010del (p.Thr337SerfsTer?)
c.983+27del (n.983+27del)
c.621del (p.His207GlnfsTer8)
 dbSNP gnomAD v3 gnomAD v4
19g.3595710G>ACA304367885TBXA2Rc.1010C>T (p.Thr337Met)
c.983+27C>T (n.983+27C>T)
c.621C>T (p.His207=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.3595710G>CCA403329835TBXA2Rc.1010C>G (p.Thr337Arg)
c.983+27C>G (n.983+27C>G)
c.621C>G (p.His207Gln)
19g.3595710G=CA2318945804TBXA2Rc.1010C= (p.Thr337=)
c.983+27C= (n.983+27C=)
c.621C= (p.His207=)
19g.3595710G>TCA403329836TBXA2Rc.1010C>A (p.Thr337Lys)
c.983+27C>A (n.983+27C>A)
c.621C>A (p.His207Gln)
 ClinVar
19g.3595711T>ACA403329839TBXA2Rc.1009A>T (p.Thr337Ser)
c.983+26A>T (n.983+26A>T)
c.620A>T (p.His207Leu)
19g.3595711T>CCA9080718TBXA2Rc.1009A>G (p.Thr337Ala)
c.983+26A>G (n.983+26A>G)
c.620A>G (p.His207Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595711T>GCA403329842TBXA2Rc.1009A>C (p.Thr337Pro)
c.983+26A>C (n.983+26A>C)
c.620A>C (p.His207Pro)
19g.3595711T=CA2318945805TBXA2Rc.1009A= (p.Thr337=)
c.983+26A= (n.983+26A=)
c.620A= (p.His207=)
19g.3595712G>ACA9080719TBXA2Rc.1008C>T (p.Leu336=)
c.983+25C>T (n.983+25C>T)
c.619C>T (p.His207Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595712G>CCA403329847TBXA2Rc.1008C>G (p.Leu336=)
c.983+25C>G (n.983+25C>G)
c.619C>G (p.His207Asp)
19g.3595712G=CA2318945806TBXA2Rc.1008C= (p.Leu336=)
c.983+25C= (n.983+25C=)
c.619C= (p.His207=)
19g.3595712G>TCA403329844TBXA2Rc.1008C>A (p.Leu336=)
c.983+25C>A (n.983+25C>A)
c.619C>A (p.His207Asn)
19g.3595713A=CA2318945807TBXA2Rc.1007T= (p.Leu336=)
c.983+24T= (n.983+24T=)
c.618T= (p.Ala206=)
19g.3595713A>CCA403329854TBXA2Rc.1007T>G (p.Leu336Arg)
c.983+24T>G (n.983+24T>G)
c.618T>G (p.Ala206=)
19g.3595713A>GCA403329858TBXA2Rc.1007T>C (p.Leu336Pro)
c.983+24T>C (n.983+24T>C)
c.618T>C (p.Ala206=)
 dbSNP gnomAD v3 gnomAD v4
19g.3595713A>TCA403329862TBXA2Rc.1007T>A (p.Leu336His)
c.983+24T>A (n.983+24T>A)
c.618T>A (p.Ala206=)
19g.3595714G>ACA403329877TBXA2Rc.1006C>T (p.Leu336Phe)
c.983+23C>T (n.983+23C>T)
c.617C>T (p.Ala206Val)
 dbSNP gnomAD v2 gnomAD v4
19g.3595714G>CCA403329879TBXA2Rc.1006C>G (p.Leu336Val)
c.983+23C>G (n.983+23C>G)
c.617C>G (p.Ala206Gly)
19g.3595714G=CA2318945808TBXA2Rc.1006C= (p.Leu336=)
c.983+23C= (n.983+23C=)
c.617C= (p.Ala206=)
19g.3595714G>TCA403329881TBXA2Rc.1006C>A (p.Leu336Ile)
c.983+23C>A (n.983+23C>A)
c.617C>A (p.Ala206Asp)
 gnomAD v4
19g.3595715C>ACA403329883TBXA2Rc.1005G>T (p.Gln335His)
c.983+22G>T (n.983+22G>T)
c.616G>T (p.Ala206Ser)
 gnomAD v4
19g.3595715C>GCA403329885TBXA2Rc.1005G>C (p.Gln335His)
c.983+22G>C (n.983+22G>C)
c.616G>C (p.Ala206Pro)
 gnomAD v4
19g.3595715C>TCA403329886TBXA2Rc.1005G>A (p.Gln335=)
c.983+22G>A (n.983+22G>A)
c.616G>A (p.Ala206Thr)
 gnomAD v4
19g.3595716T>ACA403329889TBXA2Rc.1004A>T (p.Gln335Leu)
c.983+21A>T (n.983+21A>T)
c.615A>T (p.Pro205=)
19g.3595716T>CCA403329891TBXA2Rc.1004A>G (p.Gln335Arg)
c.983+21A>G (n.983+21A>G)
c.615A>G (p.Pro205=)
19g.3595716T>GCA403329894TBXA2Rc.1004A>C (p.Gln335Pro)
c.983+21A>C (n.983+21A>C)
c.615A>C (p.Pro205=)
19g.3595717G>ACA403329904TBXA2Rc.1003C>T (p.Gln335Ter)
c.983+20C>T (n.983+20C>T)
c.614C>T (p.Pro205Leu)
19g.3595717G>CCA403329898TBXA2Rc.1003C>G (p.Gln335Glu)
c.983+20C>G (n.983+20C>G)
c.614C>G (p.Pro205Arg)
19g.3595717G>TCA403329902TBXA2Rc.1003C>A (p.Gln335Lys)
c.983+20C>A (n.983+20C>A)
c.614C>A (p.Pro205Gln)
 gnomAD v4
19g.3595718G>ACA403329907TBXA2Rc.1002C>T (p.Pro334=)
c.983+19C>T (n.983+19C>T)
c.613C>T (p.Pro205Ser)
 dbSNP gnomAD v2
19g.3595718G>CCA403329908TBXA2Rc.1002C>G (p.Pro334=)
c.983+19C>G (n.983+19C>G)
c.613C>G (p.Pro205Ala)
 gnomAD v4
19g.3595718G=CA2318945809TBXA2Rc.1002C= (p.Pro334=)
c.983+19C= (n.983+19C=)
c.613C= (p.Pro205=)
19g.3595718G>TCA403329909TBXA2Rc.1002C>A (p.Pro334=)
c.983+19C>A (n.983+19C>A)
c.613C>A (p.Pro205Thr)
 gnomAD v4
19g.3595719G>ACA403329910TBXA2Rc.1001C>T (p.Pro334Leu)
c.983+18C>T (n.983+18C>T)
c.612C>T (p.Ala204=)
 dbSNP gnomAD v2
19g.3595719G>CCA403329911TBXA2Rc.1001C>G (p.Pro334Arg)
c.983+18C>G (n.983+18C>G)
c.612C>G (p.Ala204=)
 dbSNP gnomAD v2 gnomAD v4
19g.3595719G=CA2318945810TBXA2Rc.1001C= (p.Pro334=)
c.983+18C= (n.983+18C=)
c.612C= (p.Ala204=)
19g.3595719G>TCA403329913TBXA2Rc.1001C>A (p.Pro334His)
c.983+18C>A (n.983+18C>A)
c.612C>A (p.Ala204=)
 gnomAD v4
19g.3595720G>ACA403329922TBXA2Rc.1000C>T (p.Pro334Ser)
c.983+17C>T (n.983+17C>T)
c.611C>T (p.Ala204Val)
 gnomAD v4
19g.3595720G>CCA403329931TBXA2Rc.1000C>G (p.Pro334Ala)
c.983+17C>G (n.983+17C>G)
c.611C>G (p.Ala204Gly)
19g.3595720G>TCA403329932TBXA2Rc.1000C>A (p.Pro334Thr)
c.983+17C>A (n.983+17C>A)
c.611C>A (p.Ala204Asp)
19g.3595721C>ACA9080720TBXA2Rc.999G>T (p.Gln333His)
c.983+16G>T (n.983+16G>T)
c.610G>T (p.Ala204Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595721C=CA2318945811TBXA2Rc.999G= (p.Gln333=)
c.983+16G= (n.983+16G=)
c.610G= (p.Ala204=)
19g.3595721C>GCA403329936TBXA2Rc.999G>C (p.Gln333His)
c.983+16G>C (n.983+16G>C)
c.610G>C (p.Ala204Pro)
 dbSNP
19g.3595721C>TCA403329940TBXA2Rc.999G>A (p.Gln333=)
c.983+16G>A (n.983+16G>A)
c.610G>A (p.Ala204Thr)
19g.3595722T>ACA403329948TBXA2Rc.998A>T (p.Gln333Leu)
c.983+15A>T (n.983+15A>T)
c.609A>T (p.Pro203=)
19g.3595722T>CCA403329961TBXA2Rc.998A>G (p.Gln333Arg)
c.983+15A>G (n.983+15A>G)
c.609A>G (p.Pro203=)
 gnomAD v4
19g.3595722T>GCA403329946TBXA2Rc.998A>C (p.Gln333Pro)
c.983+15A>C (n.983+15A>C)
c.609A>C (p.Pro203=)
 dbSNP gnomAD v2 gnomAD v4
19g.3595722T=CA2318945812TBXA2Rc.998A= (p.Gln333=)
c.983+15A= (n.983+15A=)
c.609A= (p.Pro203=)
19g.3595722dupCA2576567969TBXA2Rc.998dup (p.Pro334AlafsTer?)
c.983+15dup (n.983+15dup)
c.609dup (p.Ala204SerfsTer?)
19g.3595723G>ACA9080721TBXA2Rc.997C>T (p.Gln333Ter)
c.983+14C>T (n.983+14C>T)
c.608C>T (p.Pro203Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595723G>CCA403329966TBXA2Rc.997C>G (p.Gln333Glu)
c.983+14C>G (n.983+14C>G)
c.608C>G (p.Pro203Arg)
19g.3595723G=CA2318945813TBXA2Rc.997C= (p.Gln333=)
c.983+14C= (n.983+14C=)
c.608C= (p.Pro203=)
19g.3595723G>TCA403329968TBXA2Rc.997C>A (p.Gln333Lys)
c.983+14C>A (n.983+14C>A)
c.608C>A (p.Pro203Gln)
19g.3595724G>ACA403329971TBXA2Rc.996C>T (p.Leu332=)
c.983+13C>T (n.983+13C>T)
c.607C>T (p.Pro203Ser)
19g.3595724G>CCA403329974TBXA2Rc.996C>G (p.Leu332=)
c.983+13C>G (n.983+13C>G)
c.607C>G (p.Pro203Ala)
 gnomAD v4
19g.3595724G>TCA403329977TBXA2Rc.996C>A (p.Leu332=)
c.983+13C>A (n.983+13C>A)
c.607C>A (p.Pro203Thr)
 gnomAD v4
19g.3595725A>CCA403329987TBXA2Rc.995T>G (p.Leu332Arg)
c.983+12T>G (n.983+12T>G)
c.606T>G (p.Pro202=)
19g.3595725A>GCA403329981TBXA2Rc.995T>C (p.Leu332Pro)
c.983+12T>C (n.983+12T>C)
c.606T>C (p.Pro202=)
 ClinVar gnomAD v4
19g.3595725A>TCA403329984TBXA2Rc.995T>A (p.Leu332His)
c.983+12T>A (n.983+12T>A)
c.606T>A (p.Pro202=)
19g.3595726G>ACA403329991TBXA2Rc.994C>T (p.Leu332Phe)
c.983+11C>T (n.983+11C>T)
c.605C>T (p.Pro202Leu)
 dbSNP gnomAD v4 COSMIC
19g.3595726G>CCA403329994TBXA2Rc.994C>G (p.Leu332Val)
c.983+11C>G (n.983+11C>G)
c.605C>G (p.Pro202Arg)
19g.3595726G=CA2318945814TBXA2Rc.994C= (p.Leu332=)
c.983+11C= (n.983+11C=)
c.605C= (p.Pro202=)
19g.3595726G>TCA403329997TBXA2Rc.994C>A (p.Leu332Ile)
c.983+11C>A (n.983+11C>A)
c.605C>A (p.Pro202His)
19g.3595727G>ACA403330000TBXA2Rc.993C>T (p.Ser331=)
c.983+10C>T (n.983+10C>T)
c.604C>T (p.Pro202Ser)
 dbSNP gnomAD v4
19g.3595727G>CCA403330003TBXA2Rc.993C>G (p.Ser331=)
c.983+10C>G (n.983+10C>G)
c.604C>G (p.Pro202Ala)
 dbSNP gnomAD v4
19g.3595727G=CA2318945815TBXA2Rc.993C= (p.Ser331=)
c.983+10C= (n.983+10C=)
c.604C= (p.Pro202=)
19g.3595727G>TCA403330007TBXA2Rc.993C>A (p.Ser331=)
c.983+10C>A (n.983+10C>A)
c.604C>A (p.Pro202Thr)
 gnomAD v4
19g.3595728G>ACA403330009TBXA2Rc.992C>T (p.Ser331Phe)
c.983+9C>T (n.983+9C>T)
c.603C>T (p.Val201=)
 dbSNP gnomAD v2 gnomAD v4
19g.3595728G>CCA403330014TBXA2Rc.992C>G (p.Ser331Cys)
c.983+9C>G (n.983+9C>G)
c.603C>G (p.Val201=)
19g.3595728G=CA2318945816TBXA2Rc.992C= (p.Ser331=)
c.983+9C= (n.983+9C=)
c.603C= (p.Val201=)
19g.3595728G>TCA403330012TBXA2Rc.992C>A (p.Ser331Tyr)
c.983+9C>A (n.983+9C>A)
c.603C>A (p.Val201=)
 gnomAD v4
19g.3595729A>CCA403330021TBXA2Rc.991T>G (p.Ser331Ala)
c.983+8T>G (n.983+8T>G)
c.602T>G (p.Val201Gly)
19g.3595729A>GCA403330022TBXA2Rc.991T>C (p.Ser331Pro)
c.983+8T>C (n.983+8T>C)
c.602T>C (p.Val201Ala)
19g.3595729A>TCA403330025TBXA2Rc.991T>A (p.Ser331Thr)
c.983+8T>A (n.983+8T>A)
c.602T>A (p.Val201Asp)
19g.3595730C>ACA403330032TBXA2Rc.990G>T (p.Leu330=)
c.983+7G>T (n.983+7G>T)
c.601G>T (p.Val201Phe)
19g.3595730C>GCA403330035TBXA2Rc.990G>C (p.Leu330=)
c.983+7G>C (n.983+7G>C)
c.601G>C (p.Val201Leu)
19g.3595730C>TCA403330038TBXA2Rc.990G>A (p.Leu330=)
c.983+7G>A (n.983+7G>A)
c.601G>A (p.Val201Ile)
19g.3595731A>CCA403330042TBXA2Rc.989T>G (p.Leu330Arg)
c.983+6T>G (n.983+6T>G)
c.600T>G (p.Ala200=)
19g.3595731A>GCA403330044TBXA2Rc.989T>C (p.Leu330Pro)
c.983+6T>C (n.983+6T>C)
c.600T>C (p.Ala200=)
 gnomAD v4
19g.3595731A>TCA403330047TBXA2Rc.989T>A (p.Leu330Gln)
c.983+6T>A (n.983+6T>A)
c.600T>A (p.Ala200=)
19g.3595732G>ACA403330049TBXA2Rc.988C>T (p.Leu330=)
c.983+5C>T (n.983+5C>T)
c.599C>T (p.Ala200Val)
19g.3595732G>CCA403330052TBXA2Rc.988C>G (p.Leu330Val)
c.983+5C>G (n.983+5C>G)
c.599C>G (p.Ala200Gly)
19g.3595732G=CA2318945817TBXA2Rc.988C= (p.Leu330=)
c.983+5C= (n.983+5C=)
c.599C= (p.Ala200=)
19g.3595732G>TCA9080722TBXA2Rc.988C>A (p.Leu330Met)
c.983+5C>A (n.983+5C>A)
c.599C>A (p.Ala200Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595733C>ACA403330058TBXA2Rc.987G>T (p.Ser329=)
c.983+4G>T (n.983+4G>T)
c.598G>T (p.Ala200Ser)
 gnomAD v4
19g.3595733C=CA2318945818TBXA2Rc.987G= (p.Ser329=)
c.983+4G= (n.983+4G=)
c.598G= (p.Ala200=)
19g.3595733C>GCA403330062TBXA2Rc.987G>C (p.Ser329=)
c.983+4G>C (n.983+4G>C)
c.598G>C (p.Ala200Pro)
19g.3595733C>TCA403330060TBXA2Rc.987G>A (p.Ser329=)
c.983+4G>A (n.983+4G>A)
c.598G>A (p.Ala200Thr)
 dbSNP gnomAD v2 gnomAD v4
19g.3595734G>ACA304367890TBXA2Rc.986C>T (p.Ser329Leu)
c.983+3C>T (n.983+3C>T)
c.597C>T (p.Val199=)
 dbSNP gnomAD v3 gnomAD v4
19g.3595734G>CCA403330066TBXA2Rc.986C>G (p.Ser329Trp)
c.983+3C>G (n.983+3C>G)
c.597C>G (p.Val199=)
 dbSNP gnomAD v2 gnomAD v4
19g.3595734G=CA2318945819TBXA2Rc.986C= (p.Ser329=)
c.983+3C= (n.983+3C=)
c.597C= (p.Val199=)
19g.3595734G>TCA403330068TBXA2Rc.986C>A (p.Ser329Ter)
c.983+3C>A (n.983+3C>A)
c.597C>A (p.Val199=)
 gnomAD v4
19g.3595735A>CCA403330071TBXA2Rc.985T>G (p.Ser329Ala)
c.983+2T>G (n.983+2T>G)
c.596T>G (p.Val199Gly)
19g.3595735A>GCA403330073TBXA2Rc.985T>C (p.Ser329Pro)
c.983+2T>C (n.983+2T>C)
c.596T>C (p.Val199Ala)
19g.3595735A>TCA403330076TBXA2Rc.985T>A (p.Ser329Thr)
c.983+2T>A (n.983+2T>A)
c.596T>A (p.Val199Asp)
19g.3595736C>ACA403330083TBXA2Rc.984G>T (p.Arg328Ser)
c.983+1G>T (n.983+1G>T)
c.595G>T (p.Val199Phe)
 gnomAD v4
19g.3595736C>GCA403330084TBXA2Rc.984G>C (p.Arg328Ser)
c.983+1G>C (n.983+1G>C)
c.595G>C (p.Val199Leu)
19g.3595736C>TCA403330085TBXA2Rc.984G>A (p.Arg328=)
c.983+1G>A (n.983+1G>A)
c.595G>A (p.Val199Ile)
19g.3595737C>ACA403330086TBXA2Rc.983G>T (p.Arg328Met)
c.983G>T (p.Arg328Ile)
c.594G>T (p.Gln198His)
19g.3595737C=CA2318945820TBXA2Rc.983G= (p.Arg328=)
c.594G= (p.Gln198=)
19g.3595737C>GCA9080723TBXA2Rc.983G>C (p.Arg328Thr)
c.594G>C (p.Gln198His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595737C>TCA403330088TBXA2Rc.983G>A (p.Arg328Lys)
c.594G>A (p.Gln198=)
19g.3595738T>ACA403330094TBXA2Rc.982A>T (p.Arg328Trp)
c.982A>T (p.Arg328Ter)
c.593A>T (p.Gln198Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.3595738T>CCA9080724TBXA2Rc.982A>G (p.Arg328Gly)
c.593A>G (p.Gln198Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595738T>GCA403330091TBXA2Rc.982A>C (p.Arg328=)
c.593A>C (p.Gln198Pro)
 dbSNP gnomAD v2 gnomAD v4
19g.3595738T=CA2318945821TBXA2Rc.982A= (p.Arg328=)
c.593A= (p.Gln198=)
19g.3595739G>ACA403330096TBXA2Rc.981C>T (p.Pro327=)
c.592C>T (p.Gln198Ter)
19g.3595739G>CCA403330098TBXA2Rc.981C>G (p.Pro327=)
c.592C>G (p.Gln198Glu)
19g.3595739G>TCA403330100TBXA2Rc.981C>A (p.Pro327=)
c.592C>A (p.Gln198Lys)
19g.3595740G>ACA403330103TBXA2Rc.980C>T (p.Pro327Leu)
c.591C>T (p.Ala197=)
 dbSNP gnomAD v3 gnomAD v4
19g.3595740G>CCA403330105TBXA2Rc.980C>G (p.Pro327Arg)
c.591C>G (p.Ala197=)
19g.3595740G=CA2318945822TBXA2Rc.980C= (p.Pro327=)
c.591C= (p.Ala197=)
19g.3595740G>TCA403330106TBXA2Rc.980C>A (p.Pro327His)
c.591C>A (p.Ala197=)
19g.3595741G>ACA403330107TBXA2Rc.979C>T (p.Pro327Ser)
c.590C>T (p.Ala197Val)
 dbSNP gnomAD v2 gnomAD v4
19g.3595741G>CCA403330108TBXA2Rc.979C>G (p.Pro327Ala)
c.590C>G (p.Ala197Gly)
19g.3595741G=CA2318945823TBXA2Rc.979C= (p.Pro327=)
c.590C= (p.Ala197=)
19g.3595741G>TCA403330109TBXA2Rc.979C>A (p.Pro327Thr)
c.590C>A (p.Ala197Asp)
 gnomAD v4
19g.3595742C>ACA403330111TBXA2Rc.978G>T (p.Arg326=)
c.589G>T (p.Ala197Ser)
 gnomAD v4
19g.3595742C>GCA403330113TBXA2Rc.978G>C (p.Arg326=)
c.589G>C (p.Ala197Pro)
19g.3595742C>TCA403330114TBXA2Rc.978G>A (p.Arg326=)
c.589G>A (p.Ala197Thr)
19g.3595743C>ACA403330119TBXA2Rc.977G>T (p.Arg326Leu)
c.588G>T (p.Pro196=)
 gnomAD v4
19g.3595743C=CA2318945824TBXA2Rc.977G= (p.Arg326=)
c.588G= (p.Pro196=)
19g.3595743C>GCA403330118TBXA2Rc.977G>C (p.Arg326Pro)
c.588G>C (p.Pro196=)
 dbSNP gnomAD v3 gnomAD v4
19g.3595743C>TCA9080725TBXA2Rc.977G>A (p.Arg326Gln)
c.588G>A (p.Pro196=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.3595744G>ACA9080726TBXA2Rc.976C>T (p.Arg326Trp)
c.587C>T (p.Pro196Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595744G>CCA403330133TBXA2Rc.976C>G (p.Arg326Gly)
c.587C>G (p.Pro196Arg)
19g.3595744G=CA2318945825TBXA2Rc.976C= (p.Arg326=)
c.587C= (p.Pro196=)
19g.3595744G>TCA403330123TBXA2Rc.976C>A (p.Arg326=)
c.587C>A (p.Pro196Gln)
 gnomAD v4
19g.3595745G>ACA403330139TBXA2Rc.975C>T (p.Thr325=)
c.586C>T (p.Pro196Ser)
19g.3595745G>CCA403330142TBXA2Rc.975C>G (p.Thr325=)
c.586C>G (p.Pro196Ala)
 gnomAD v4
19g.3595745G>TCA403330145TBXA2Rc.975C>A (p.Thr325=)
c.586C>A (p.Pro196Thr)
 gnomAD v4
19g.3595746G>ACA403330149TBXA2Rc.974C>T (p.Thr325Ile)
c.585C>T (p.His195=)
19g.3595746G>CCA403330153TBXA2Rc.974C>G (p.Thr325Ser)
c.585C>G (p.His195Gln)
19g.3595746G>TCA403330155TBXA2Rc.974C>A (p.Thr325Asn)
c.585C>A (p.His195Gln)
19g.3595747T>ACA403330158TBXA2Rc.973A>T (p.Thr325Ser)
c.584A>T (p.His195Leu)
19g.3595747T>CCA403330161TBXA2Rc.973A>G (p.Thr325Ala)
c.584A>G (p.His195Arg)
 dbSNP gnomAD v2
19g.3595747T>GCA403330165TBXA2Rc.973A>C (p.Thr325Pro)
c.584A>C (p.His195Pro)
19g.3595747T=CA2318945827TBXA2Rc.973A= (p.Thr325=)
c.584A= (p.His195=)
19g.3595747_3595758delinsTGCTGAGGCGAGCA2318945826TBXA2Rc.962_973delinsCTCGCCTCAGCA (p.Pro321=)
c.573_584delinsCTCGCCTCAGCA (p.Ala191=)
19g.3595748G>ACA403330170TBXA2Rc.972C>T (p.Ser324=)
c.583C>T (p.His195Tyr)
 dbSNP gnomAD v2 gnomAD v4
19g.3595748G>CCA403330181TBXA2Rc.972C>G (p.Ser324Arg)
c.583C>G (p.His195Asp)
19g.3595748G=CA2318945828TBXA2Rc.972C= (p.Ser324=)
c.583C= (p.His195=)
19g.3595748G>TCA403330183TBXA2Rc.972C>A (p.Ser324Arg)
c.583C>A (p.His195Asn)
 gnomAD v4
19g.3595752_3595762delCA881803962TBXA2Rc.962_972del (p.Pro321HisfsTer?)
c.573_583del (p.Ser192ProfsTer?)
 dbSNP gnomAD v3 gnomAD v4
19g.3595749C>ACA403330192TBXA2Rc.971G>T (p.Ser324Ile)
c.582G>T (p.Gln194His)
19g.3595749C>GCA403330186TBXA2Rc.971G>C (p.Ser324Thr)
c.582G>C (p.Gln194His)
19g.3595749C>TCA403330189TBXA2Rc.971G>A (p.Ser324Asn)
c.582G>A (p.Gln194=)
 gnomAD v4
19g.3595750T>ACA403330197TBXA2Rc.970A>T (p.Ser324Cys)
c.581A>T (p.Gln194Leu)
19g.3595750T>CCA403330200TBXA2Rc.970A>G (p.Ser324Gly)
c.581A>G (p.Gln194Arg)
19g.3595750T>GCA403330206TBXA2Rc.970A>C (p.Ser324Arg)
c.581A>C (p.Gln194Pro)
19g.3595751G>ACA403330208TBXA2Rc.969C>T (p.Leu323=)
c.580C>T (p.Gln194Ter)
19g.3595751G>CCA403330212TBXA2Rc.969C>G (p.Leu323=)
c.580C>G (p.Gln194Glu)
19g.3595751G>TCA403330216TBXA2Rc.969C>A (p.Leu323=)
c.580C>A (p.Gln194Lys)
19g.3595752A>CCA403330219TBXA2Rc.968T>G (p.Leu323Arg)
c.579T>G (p.Pro193=)
19g.3595752A>GCA403330222TBXA2Rc.968T>C (p.Leu323Pro)
c.579T>C (p.Pro193=)
19g.3595752A>TCA403330224TBXA2Rc.968T>A (p.Leu323His)
c.579T>A (p.Pro193=)
19g.3595753G>ACA403330229TBXA2Rc.967C>T (p.Leu323Phe)
c.578C>T (p.Pro193Leu)
19g.3595753G>CCA403330240TBXA2Rc.967C>G (p.Leu323Val)
c.578C>G (p.Pro193Arg)
19g.3595753G>TCA403330244TBXA2Rc.967C>A (p.Leu323Ile)
c.578C>A (p.Pro193His)
19g.3595754G>ACA403330253TBXA2Rc.966C>T (p.Arg322=)
c.577C>T (p.Pro193Ser)
19g.3595754G>CCA403330250TBXA2Rc.966C>G (p.Arg322=)
c.577C>G (p.Pro193Ala)
19g.3595754G>TCA403330247TBXA2Rc.966C>A (p.Arg322=)
c.577C>A (p.Pro193Thr)
 gnomAD v4
19g.3595755C>ACA403330259TBXA2Rc.965G>T (p.Arg322Leu)
c.576G>T (p.Ser192=)
 gnomAD v4
19g.3595755C=CA2318945829TBXA2Rc.965G= (p.Arg322=)
c.576G= (p.Ser192=)
19g.3595755C>GCA403330255TBXA2Rc.965G>C (p.Arg322Pro)
c.576G>C (p.Ser192=)
 gnomAD v4
19g.3595755C>TCA9080727TBXA2Rc.965G>A (p.Arg322His)
c.576G>A (p.Ser192=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595756G>ACA403330262TBXA2Rc.964C>T (p.Arg322Cys)
c.575C>T (p.Ser192Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.3595756G>CCA403330264TBXA2Rc.964C>G (p.Arg322Gly)
c.575C>G (p.Ser192Trp)
 gnomAD v4
19g.3595756G=CA2318945830TBXA2Rc.964C= (p.Arg322=)
c.575C= (p.Ser192=)
19g.3595756G>TCA403330279TBXA2Rc.964C>A (p.Arg322Ser)
c.575C>A (p.Ser192Ter)
 dbSNP
19g.3595757A=CA2318945831TBXA2Rc.963T= (p.Pro321=)
c.574T= (p.Ser192=)
19g.3595757A>CCA403330287TBXA2Rc.963T>G (p.Pro321=)
c.574T>G (p.Ser192Ala)
19g.3595757A>GCA403330284TBXA2Rc.963T>C (p.Pro321=)
c.574T>C (p.Ser192Pro)
 dbSNP
19g.3595757A>TCA9080728TBXA2Rc.963T>A (p.Pro321=)
c.574T>A (p.Ser192Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595758G>ACA403330290TBXA2Rc.962C>T (p.Pro321Leu)
c.573C>T (p.Ala191=)
 gnomAD v4
19g.3595758G>CCA403330294TBXA2Rc.962C>G (p.Pro321Arg)
c.573C>G (p.Ala191=)
 dbSNP
19g.3595758G=CA2318945833TBXA2Rc.962C= (p.Pro321=)
c.573C= (p.Ala191=)
19g.3595758G>TCA403330296TBXA2Rc.962C>A (p.Pro321His)
c.573C>A (p.Ala191=)
19g.3595758_3595767delinsGGCTGGAGACCA2318945832TBXA2Rc.953_962delinsGTCTCCAGCC (p.Arg318=)
c.564_573delinsGTCTCCAGCC (p.Ala188=)
19g.3595759G>ACA403330297TBXA2Rc.961C>T (p.Pro321Ser)
c.572C>T (p.Ala191Val)
 gnomAD v4
19g.3595759G>CCA403330298TBXA2Rc.961C>G (p.Pro321Ala)
c.572C>G (p.Ala191Gly)
19g.3595759G>TCA403330301TBXA2Rc.961C>A (p.Pro321Thr)
c.572C>A (p.Ala191Asp)
19g.3595761_3595769delCA881803980TBXA2Rc.953_961del (p.Arg318_Gln320del)
c.564_572del (p.Ser189_Ala191del)
 dbSNP
19g.3595760C>ACA403330304TBXA2Rc.960G>T (p.Gln320His)
c.571G>T (p.Ala191Ser)
 gnomAD v4
19g.3595760C>GCA403330314TBXA2Rc.960G>C (p.Gln320His)
c.571G>C (p.Ala191Pro)
 gnomAD v4
19g.3595760C>TCA403330311TBXA2Rc.960G>A (p.Gln320=)
c.571G>A (p.Ala191Thr)
19g.3595761T>ACA403330317TBXA2Rc.959A>T (p.Gln320Leu)
c.570A>T (p.Pro190=)
19g.3595761T>CCA403330320TBXA2Rc.959A>G (p.Gln320Arg)
c.570A>G (p.Pro190=)
19g.3595761T>GCA403330322TBXA2Rc.959A>C (p.Gln320Pro)
c.570A>C (p.Pro190=)
19g.3595762G>ACA403330326TBXA2Rc.958C>T (p.Gln320Ter)
c.569C>T (p.Pro190Leu)
 gnomAD v4
19g.3595762G>CCA403330327TBXA2Rc.958C>G (p.Gln320Glu)
c.569C>G (p.Pro190Arg)
19g.3595762G>TCA403330329TBXA2Rc.958C>A (p.Gln320Lys)
c.569C>A (p.Pro190Gln)
19g.3595763delCA2584493819TBXA2Rc.958del (p.Gln320SerfsTer?)
c.569del (p.Pro190GlnfsTer25)
 gnomAD v4
19g.3595763G>ACA403330332TBXA2Rc.957C>T (p.Leu319=)
c.568C>T (p.Pro190Ser)
19g.3595763G>CCA9080729TBXA2Rc.957C>G (p.Leu319=)
c.568C>G (p.Pro190Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595763G=CA2318945834TBXA2Rc.957C= (p.Leu319=)
c.568C= (p.Pro190=)
19g.3595763G>TCA403330337TBXA2Rc.957C>A (p.Leu319=)
c.568C>A (p.Pro190Thr)
19g.3595764A>CCA403330339TBXA2Rc.956T>G (p.Leu319Arg)
c.567T>G (p.Ser189=)
19g.3595764A>GCA403330340TBXA2Rc.956T>C (p.Leu319Pro)
c.567T>C (p.Ser189=)
19g.3595764A>TCA403330341TBXA2Rc.956T>A (p.Leu319His)
c.567T>A (p.Ser189=)
19g.3595765G>ACA403330343TBXA2Rc.955C>T (p.Leu319Phe)
c.566C>T (p.Ser189Phe)
19g.3595765G>CCA403330345TBXA2Rc.955C>G (p.Leu319Val)
c.566C>G (p.Ser189Cys)
19g.3595765G>TCA403330342TBXA2Rc.955C>A (p.Leu319Ile)
c.566C>A (p.Ser189Tyr)
 gnomAD v4
19g.3595766A=CA2318945835TBXA2Rc.954T= (p.Arg318=)
c.565T= (p.Ser189=)
19g.3595766A>CCA403330346TBXA2Rc.954T>G (p.Arg318=)
c.565T>G (p.Ser189Ala)
19g.3595766A>GCA9080730TBXA2Rc.954T>C (p.Arg318=)
c.565T>C (p.Ser189Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595766A>TCA403330348TBXA2Rc.954T>A (p.Arg318=)
c.565T>A (p.Ser189Thr)
19g.3595767C>ACA403330352TBXA2Rc.953G>T (p.Arg318Leu)
c.564G>T (p.Ala188=)
 gnomAD v4
19g.3595767C=CA2318945836TBXA2Rc.953G= (p.Arg318=)
c.564G= (p.Ala188=)
19g.3595767C>GCA403330355TBXA2Rc.953G>C (p.Arg318Pro)
c.564G>C (p.Ala188=)
19g.3595767C>TCA403330356TBXA2Rc.953G>A (p.Arg318His)
c.564G>A (p.Ala188=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.3595767_3595773delinsCGCCGGACA2318945837TBXA2Rc.947_953delinsTCCGGCG (p.Leu316=)
c.558_564delinsTCCGGCG (p.Ala186=)
19g.3595768G>ACA403330361TBXA2Rc.952C>T (p.Arg318Cys)
c.563C>T (p.Ala188Val)
 dbSNP gnomAD v2 gnomAD v4
19g.3595768G>CCA9080731TBXA2Rc.952C>G (p.Arg318Gly)
c.563C>G (p.Ala188Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595768G=CA2318945839TBXA2Rc.952C= (p.Arg318=)
c.563C= (p.Ala188=)
19g.3595768G>TCA403330359TBXA2Rc.952C>A (p.Arg318Ser)
c.563C>A (p.Ala188Glu)
19g.3595770_3595775delCA2318945838TBXA2Rc.947_952del (p.Leu316_Arg317del)
c.558_563del (p.Pro187_Ala188del)
 dbSNP
19g.3595769C>ACA403330363TBXA2Rc.951G>T (p.Arg317=)
c.562G>T (p.Ala188Ser)
 gnomAD v4
19g.3595769C=CA2318945840TBXA2Rc.951G= (p.Arg317=)
c.562G= (p.Ala188=)
19g.3595769C>GCA403330367TBXA2Rc.951G>C (p.Arg317=)
c.562G>C (p.Ala188Pro)
19g.3595769C>TCA9080732TBXA2Rc.951G>A (p.Arg317=)
c.562G>A (p.Ala188Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595770C>ACA9080734TBXA2Rc.950G>T (p.Arg317Leu)
c.561G>T (p.Pro187=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595770C=CA2318945841TBXA2Rc.950G= (p.Arg317=)
c.561G= (p.Pro187=)
19g.3595770C>GCA403330371TBXA2Rc.950G>C (p.Arg317Pro)
c.561G>C (p.Pro187=)
19g.3595770C>TCA9080733TBXA2Rc.950G>A (p.Arg317Gln)
c.561G>A (p.Pro187=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595771G>ACA9080735TBXA2Rc.949C>T (p.Arg317Trp)
c.560C>T (p.Pro187Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595771G>CCA9080736TBXA2Rc.949C>G (p.Arg317Gly)
c.560C>G (p.Pro187Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.3595771G=CA2318945842TBXA2Rc.949C= (p.Arg317=)
c.560C= (p.Pro187=)
19g.3595771G>TCA403330376TBXA2Rc.949C>A (p.Arg317=)
c.560C>A (p.Pro187Gln)
 gnomAD v4
19g.3595772G>ACA403330387TBXA2Rc.948C>T (p.Leu316=)
c.559C>T (p.Pro187Ser)
 dbSNP
19g.3595772G>CCA403330389TBXA2Rc.948C>G (p.Leu316=)
c.559C>G (p.Pro187Ala)
 dbSNP gnomAD v3 gnomAD v4
19g.3595772G=CA2318945843TBXA2Rc.948C= (p.Leu316=)
c.559C= (p.Pro187=)
19g.3595772G>TCA403330392TBXA2Rc.948C>A (p.Leu316=)
c.559C>A (p.Pro187Thr)
19g.3595773A>CCA403330398TBXA2Rc.947T>G (p.Leu316Arg)
c.558T>G (p.Ala186=)
19g.3595773A>GCA403330399TBXA2Rc.947T>C (p.Leu316Pro)
c.558T>C (p.Ala186=)
19g.3595773A>TCA403330401TBXA2Rc.947T>A (p.Leu316His)
c.558T>A (p.Ala186=)
19g.3595774G>ACA403330403TBXA2Rc.946C>T (p.Leu316Phe)
c.557C>T (p.Ala186Val)
 gnomAD v4
19g.3595774G>CCA403330404TBXA2Rc.946C>G (p.Leu316Val)
c.557C>G (p.Ala186Gly)
19g.3595774G=CA2318945844TBXA2Rc.946C= (p.Leu316=)
c.557C= (p.Ala186=)
19g.3595774G>TCA403330410TBXA2Rc.946C>A (p.Leu316Ile)
c.557C>A (p.Ala186Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.3595776_3595780delCA2584493820TBXA2Rc.942_946del (p.Val315ProfsTer?)
c.553_557del (p.Arg185SerfsTer?)
 gnomAD v4
19g.3595775C>ACA403330413TBXA2Rc.945G>T (p.Val315=)
c.556G>T (p.Ala186Ser)
 gnomAD v4
19g.3595775C>GCA403330417TBXA2Rc.945G>C (p.Val315=)
c.556G>C (p.Ala186Pro)
19g.3595775C>TCA403330420TBXA2Rc.945G>A (p.Val315=)
c.556G>A (p.Ala186Thr)
19g.3595776A>CCA403330421TBXA2Rc.944T>G (p.Val315Gly)
c.555T>G (p.Arg185=)
19g.3595776A>GCA403330425TBXA2Rc.944T>C (p.Val315Ala)
c.555T>C (p.Arg185=)
 gnomAD v4
19g.3595776A>TCA403330424TBXA2Rc.944T>A (p.Val315Glu)
c.555T>A (p.Arg185=)
19g.3595777C>ACA403330432TBXA2Rc.943G>T (p.Val315Leu)
c.554G>T (p.Arg185Leu)
19g.3595777C=CA2318945845TBXA2Rc.943G= (p.Val315=)
c.554G= (p.Arg185=)
19g.3595777C>GCA403330434TBXA2Rc.943G>C (p.Val315Leu)
c.554G>C (p.Arg185Pro)
19g.3595777C>TCA403330435TBXA2Rc.943G>A (p.Val315Met)
c.554G>A (p.Arg185His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.3595778G>ACA9080737TBXA2Rc.942C>T (p.Ala314=)
c.553C>T (p.Arg185Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595778G>CCA403330438TBXA2Rc.942C>G (p.Ala314=)
c.553C>G (p.Arg185Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.3595778G=CA2318945846TBXA2Rc.942C= (p.Ala314=)
c.553C= (p.Arg185=)
19g.3595778G>TCA403330439TBXA2Rc.942C>A (p.Ala314=)
c.553C>A (p.Arg185Ser)
 gnomAD v4
19g.3595779G>ACA403330441TBXA2Rc.941C>T (p.Ala314Val)
c.552C>T (p.Arg184=)
 gnomAD v4
19g.3595779G>CCA403330443TBXA2Rc.941C>G (p.Ala314Gly)
c.552C>G (p.Arg184=)
19g.3595779G>TCA403330449TBXA2Rc.941C>A (p.Ala314Asp)
c.552C>A (p.Arg184=)
19g.3595780_3595783dupCA631712353TBXA2Rc.938_941dup (p.Val315ArgfsTer?)
c.549_552dup (p.Arg185AlafsTer?)
 dbSNP gnomAD v2 gnomAD v4
19g.3595780C>ACA403330452TBXA2Rc.940G>T (p.Ala314Ser)
c.551G>T (p.Arg184Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.3595780C=CA2318945847TBXA2Rc.940G= (p.Ala314=)
c.551G= (p.Arg184=)
19g.3595780C>GCA403330453TBXA2Rc.940G>C (p.Ala314Pro)
c.551G>C (p.Arg184Pro)
19g.3595780C>TCA403330456TBXA2Rc.940G>A (p.Ala314Thr)
c.551G>A (p.Arg184His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.3595781G>ACA9080738TBXA2Rc.939C>T (p.Arg313=)
c.550C>T (p.Arg184Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.3595781G>CCA403330460TBXA2Rc.939C>G (p.Arg313=)
c.550C>G (p.Arg184Gly)
19g.3595781G=CA2318945848TBXA2Rc.939C= (p.Arg313=)
c.550C= (p.Arg184=)
19g.3595781G>TCA403330459TBXA2Rc.939C>A (p.Arg313=)
c.550C>A (p.Arg184Ser)
19g.3595782C>ACA403330464TBXA2Rc.938G>T (p.Arg313Leu)
c.549G>T (p.Pro183=)
 gnomAD v4
19g.3595782C=CA2318945849TBXA2Rc.938G= (p.Arg313=)
c.549G= (p.Pro183=)
19g.3595782C>GCA403330466TBXA2Rc.938G>C (p.Arg313Pro)
c.549G>C (p.Pro183=)
 dbSNP gnomAD v2 gnomAD v4
19g.3595782C>TCA403330467TBXA2Rc.938G>A (p.Arg313His)
c.549G>A (p.Pro183=)
 dbSNP gnomAD v2 gnomAD v4
19g.3595783G>ACA304367902TBXA2Rc.937C>T (p.Arg313Cys)
c.548C>T (p.Pro183Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.3595783G>CCA403330471TBXA2Rc.937C>G (p.Arg313Gly)
c.548C>G (p.Pro183Arg)
19g.3595783G=CA2318945850TBXA2Rc.937C= (p.Arg313=)
c.548C= (p.Pro183=)
19g.3595783G>TCA403330474TBXA2Rc.937C>A (p.Arg313Ser)
c.548C>A (p.Pro183Gln)
19g.3595784G>ACA403330477TBXA2Rc.936C>T (p.Arg312=)
c.547C>T (p.Pro183Ser)
 COSMIC COSMIC
19g.3595784G>CCA403330482TBXA2Rc.936C>G (p.Arg312=)
c.547C>G (p.Pro183Ala)
19g.3595784G>TCA403330483TBXA2Rc.936C>A (p.Arg312=)
c.547C>A (p.Pro183Thr)
19g.3595784_3595785delinsGCCA2318945851TBXA2Rc.935_936delinsGC (p.Arg312=)
c.546_547delinsGC (p.Pro182=)
19g.3595785delCA920042087TBXA2Rc.935del (p.Arg312ProfsTer?)
c.546del (p.Pro183ArgfsTer?)
 dbSNP
19g.3595785C>ACA403330484TBXA2Rc.935G>T (p.Arg312Leu)
c.546G>T (p.Pro182=)
 gnomAD v4
19g.3595785C=CA2318945852TBXA2Rc.935G= (p.Arg312=)
c.546G= (p.Pro182=)
19g.3595785C>GCA403330487TBXA2Rc.935G>C (p.Arg312Pro)
c.546G>C (p.Pro182=)
19g.3595785C>TCA9080739TBXA2Rc.935G>A (p.Arg312His)
c.546G>A (p.Pro182=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.3595786G>ACA403330496TBXA2Rc.934C>T (p.Arg312Cys)
c.545C>T (p.Pro182Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.3595786G>CCA403330492TBXA2Rc.934C>G (p.Arg312Gly)
c.545C>G (p.Pro182Arg)
19g.3595786G=CA2318945853TBXA2Rc.934C= (p.Arg312=)
c.545C= (p.Pro182=)
19g.3595786G>TCA403330494TBXA2Rc.934C>A (p.Arg312Ser)
c.545C>A (p.Pro182Gln)

Number of alleles fetched