Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.139537144C>ACA518859777F9c.223C>A (p.Arg75=)
n.230C>A
Xg.139537144C=CA2461404312F9c.223C= (p.Arg75=)
n.230C=
Xg.139537144C>GCA414436148F9c.223C>G (p.Arg75Gly)
n.230C>G
Xg.139537144C>TCA340993F9c.223C>T (p.Arg75Ter)
n.230C>T
ClinVar dbSNP COSMIC
Xg.139537145G>ACA255318F9c.224G>A (p.Arg75Gln)
n.231G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.139537145G>CCA414436154F9c.224G>C (p.Arg75Pro)
n.231G>C
Xg.139537145G=CA2461404313F9c.224G= (p.Arg75=)
n.231G=
Xg.139537145G>TCA414436151F9c.224G>T (p.Arg75Leu)
n.231G>T
Xg.139537146A>CCA518859783F9c.225A>C (p.Arg75=)
n.232A>C
Xg.139537146A>GCA518859784F9c.225A>G (p.Arg75=)
n.232A>G
Xg.139537146A>TCA518859785F9c.225A>T (p.Arg75=)
n.232A>T
Xg.139537148_139537150delCA2695236210F9c.227_229del (p.Glu76del)
n.234_236del
Xg.139537147G>ACA414436158F9c.226G>A (p.Glu76Lys)
n.233G>A
ClinVar dbSNP
Xg.139537147G>CCA414436160F9c.226G>C (p.Glu76Gln)
n.233G>C
COSMIC
Xg.139537147G=CA2461404314F9c.226G= (p.Glu76=)
n.233G=
Xg.139537147G>TCA414436163F9c.226G>T (p.Glu76Ter)
n.233G>T
Xg.139537148A>CCA414436165F9c.227A>C (p.Glu76Ala)
n.234A>C
Xg.139537148A>GCA414436167F9c.227A>G (p.Glu76Gly)
n.234A>G
Xg.139537148A>TCA414436168F9c.227A>T (p.Glu76Val)
n.234A>T
Xg.139537149A>CCA414436170F9c.228A>C (p.Glu76Asp)
n.235A>C
Xg.139537149A>GCA518859796F9c.228A>G (p.Glu76=)
n.235A>G
gnomAD v4
Xg.139537149A>TCA414436172F9c.228A>T (p.Glu76Asp)
n.235A>T
COSMIC
Xg.139537150delCA2695236212F9c.229del (p.Val77PhefsTer27)
c.229del (p.Val77PhefsTer18)
n.236del
Xg.139537150G>ACA414436178F9c.229G>A (p.Val77Ile)
n.236G>A
Xg.139537150G>CCA414436179F9c.229G>C (p.Val77Leu)
n.236G>C
Xg.139537150G>TCA414436181F9c.229G>T (p.Val77Phe)
n.236G>T
Xg.139537151T>ACA414436194F9c.230T>A (p.Val77Asp)
n.237T>A
gnomAD v4
Xg.139537151T>CCA414436192F9c.230T>C (p.Val77Ala)
n.237T>C
COSMIC
Xg.139537151T>GCA10529747F9c.230T>G (p.Val77Gly)
n.237T>G
dbSNP ExAC gnomAD v4
Xg.139537151T=CA2461404315F9c.230T= (p.Val77=)
n.237T=
Xg.139537151_139537152delinsACA2695236214F9c.230_231delinsA (p.Val77AspfsTer27)
c.230_231delinsA (p.Val77AspfsTer18)
n.237_238delinsA
Xg.139537151_139537155delCA2517702502F9c.230_234del (p.Val77GlyfsTer4)
n.237_241del
Xg.139537154_139537155delCA2695236213F9c.233_234del (p.Phe78Ter)
n.240_241del
Xg.139537152T>ACA518859802F9c.231T>A (p.Val77=)
n.238T>A
Xg.139537152T>CCA518859803F9c.231T>C (p.Val77=)
n.238T>C
Xg.139537152T>GCA10529748F9c.231T>G (p.Val77=)
n.238T>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.139537152T=CA2461404316F9c.231T= (p.Val77=)
n.238T=
Xg.139537153T>ACA414436198F9c.232T>A (p.Phe78Ile)
n.239T>A
Xg.139537153T>CCA414436206F9c.232T>C (p.Phe78Leu)
n.239T>C
Xg.139537153T>GCA414436208F9c.232T>G (p.Phe78Val)
n.239T>G
COSMIC
Xg.139537154T>ACA414436211F9c.233T>A (p.Phe78Tyr)
n.240T>A
Xg.139537154T>CCA414436212F9c.233T>C (p.Phe78Ser)
n.240T>C
Xg.139537154T>GCA414436213F9c.233T>G (p.Phe78Cys)
n.240T>G
Xg.139537155T>ACA414436214F9c.234T>A (p.Phe78Leu)
n.241T>A
Xg.139537155T>CCA518859813F9c.234T>C (p.Phe78=)
n.241T>C
Xg.139537155T>GCA414436215F9c.234T>G (p.Phe78Leu)
n.241T>G
Xg.139537156G>ACA414436218F9c.235G>A (p.Glu79Lys)
n.241+1G>A
ClinVar dbSNP
Xg.139537156G>CCA414436222F9c.235G>C (p.Glu79Gln)
n.241+1G>C
Xg.139537156G=CA2461404317F9c.235G= (p.Glu79=)
n.241+1G=
Xg.139537156G>TCA414436224F9c.235G>T (p.Glu79Ter)
n.241+1G>T
COSMIC

Number of alleles fetched