Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.240876650_240877771delCA275856AGXTc.846+646_942+139del
ClinVar
2g.240877597C>ACA351319261AGXTc.907C>A (p.Gln303Lys)
n.685C>A
gnomAD v4
2g.240877597C=CA1339335537AGXTc.907C= (p.Gln303=)
n.685C=
2g.240877597C>GCA351319263AGXTc.907C>G (p.Gln303Glu)
n.685C>G
2g.240877597C>TCA275759AGXTc.907C>T (p.Gln303Ter)
n.685C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.240877598A>CCA351319266AGXTc.908A>C (p.Gln303Pro)
n.686A>C
gnomAD v4
2g.240877598A>GCA351319268AGXTc.908A>G (p.Gln303Arg)
n.686A>G
gnomAD v4
2g.240877598A>TCA351319270AGXTc.908A>T (p.Gln303Leu)
n.686A>T
gnomAD v4
2g.240877599G>ACA432025505AGXTc.909G>A (p.Gln303=)
n.687G>A
2g.240877599G>CCA351319272AGXTc.909G>C (p.Gln303His)
n.687G>C
2g.240877599G=CA1339335538AGXTc.909G= (p.Gln303=)
n.687G=
2g.240877599G>TCA2209333AGXTc.909G>T (p.Gln303His)
n.687G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240877600delCA2586971645AGXTc.910del (p.Ala304HisfsTer8)
n.688del
2g.240877600G>ACA351319275AGXTc.910G>A (p.Ala304Thr)
n.688G>A
dbSNP gnomAD v2 gnomAD v4
2g.240877600G>CCA351319277AGXTc.910G>C (p.Ala304Pro)
n.688G>C
2g.240877600G=CA1339335539AGXTc.910G= (p.Ala304=)
n.688G=
2g.240877600G>TCA351319279AGXTc.910G>T (p.Ala304Ser)
n.688G>T
gnomAD v4
2g.240877601C>ACA351319283AGXTc.911C>A (p.Ala304Glu)
n.689C>A
gnomAD v4
2g.240877601C>GCA351319285AGXTc.911C>G (p.Ala304Gly)
n.689C>G
2g.240877601C>TCA351319281AGXTc.911C>T (p.Ala304Val)
n.689C>T
gnomAD v4
2g.240877602A>CCA432025524AGXTc.912A>C (p.Ala304=)
n.690A>C
gnomAD v4
2g.240877602A>GCA432025520AGXTc.912A>G (p.Ala304=)
n.690A>G
gnomAD v4
2g.240877602A>TCA432025522AGXTc.912A>T (p.Ala304=)
n.690A>T
gnomAD v4
2g.240877603C>ACA351319287AGXTc.913C>A (p.Leu305Met)
n.691C>A
gnomAD v4
2g.240877603C>GCA351319289AGXTc.913C>G (p.Leu305Val)
n.691C>G
2g.240877603C>TCA432025530AGXTc.913C>T (p.Leu305=)
n.691C>T
gnomAD v4
2g.240877604T>ACA351319292AGXTc.914T>A (p.Leu305Gln)
n.692T>A
2g.240877604T>CCA351319293AGXTc.914T>C (p.Leu305Pro)
n.692T>C
gnomAD v4
2g.240877604T>GCA351319294AGXTc.914T>G (p.Leu305Arg)
n.692T>G
2g.240877605G>ACA432025538AGXTc.915G>A (p.Leu305=)
n.693G>A
gnomAD v4
2g.240877605G>CCA432025540AGXTc.915G>C (p.Leu305=)
n.693G>C
2g.240877605G>TCA432025542AGXTc.915G>T (p.Leu305=)
n.693G>T
gnomAD v4
2g.240877606G>ACA351319298AGXTc.916G>A (p.Gly306Arg)
n.694G>A
gnomAD v4
2g.240877606G>CCA351319295AGXTc.916G>C (p.Gly306Arg)
n.694G>C
2g.240877606G>TCA351319296AGXTc.916G>T (p.Gly306Trp)
n.694G>T
gnomAD v4
2g.240877607G>ACA351319300AGXTc.917G>A (p.Gly306Glu)
n.695G>A
2g.240877607G>CCA351319301AGXTc.917G>C (p.Gly306Ala)
n.695G>C
gnomAD v4
2g.240877607G>TCA351319302AGXTc.917G>T (p.Gly306Val)
n.695G>T
gnomAD v4
2g.240877608G>ACA432025551AGXTc.918G>A (p.Gly306=)
n.696G>A
ClinVar gnomAD v4
2g.240877608G>CCA432025552AGXTc.918G>C (p.Gly306=)
n.696G>C
ClinVar dbSNP gnomAD v4
2g.240877608G=CA1339335541AGXTc.918G= (p.Gly306=)
n.696G=
2g.240877608G>TCA432025553AGXTc.918G>T (p.Gly306=)
n.696G>T
gnomAD v4
2g.240877608_240877609delinsGCCA1339335540AGXTc.918_919delinsGC (p.Gly306=)
n.696_697delinsGC
2g.240877609delCA275860AGXTc.919del (p.Leu307CysfsTer5)
n.697del
ClinVar dbSNP
2g.240877609C>ACA351319304AGXTc.919C>A (p.Leu307Met)
n.697C>A
gnomAD v4
2g.240877609C>GCA351319305AGXTc.919C>G (p.Leu307Val)
n.697C>G
2g.240877609C>TCA432025559AGXTc.919C>T (p.Leu307=)
n.697C>T
ClinVar dbSNP gnomAD v4
2g.240877610T>ACA351319310AGXTc.920T>A (p.Leu307Gln)
n.698T>A
2g.240877610T>CCA351319313AGXTc.920T>C (p.Leu307Pro)
n.698T>C
2g.240877610T>GCA351319309AGXTc.920T>G (p.Leu307Arg)
n.698T>G

Number of alleles fetched