Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)

Number of alleles fetched