Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.24290904_24290955delCA2677515139DCDC2c.682_704+29del
gnomAD v4
6g.24290943T>ACA363280132DCDC2c.693A>T (p.Arg231Ser)
6g.24290943T>CCA3654695DCDC2c.693A>G (p.Arg231=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24290943T>GCA363280137DCDC2c.693A>C (p.Arg231Ser)
6g.24290943T=CA1616446738DCDC2c.693A= (p.Arg231=)
6g.24290944C>ACA363280140DCDC2c.692G>T (p.Arg231Ile)
6g.24290944C=CA1616446741DCDC2c.692G= (p.Arg231=)
6g.24290944C>GCA363280144DCDC2c.692G>C (p.Arg231Thr)
dbSNP gnomAD v3 gnomAD v4
6g.24290944C>TCA363280145DCDC2c.692G>A (p.Arg231Lys)
6g.24290945T>ACA363280149DCDC2c.691A>T (p.Arg231Ter)
6g.24290945T>CCA363280151DCDC2c.691A>G (p.Arg231Gly)
6g.24290945T>GCA448951167DCDC2c.691A>C (p.Arg231=)
6g.24290946C>ACA363280154DCDC2c.690G>T (p.Met230Ile)
6g.24290946C=CA1616446748DCDC2c.690G= (p.Met230=)
6g.24290946C>GCA363280157DCDC2c.690G>C (p.Met230Ile)
6g.24290946C>TCA363280160DCDC2c.690G>A (p.Met230Ile)
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.24290947A>CCA363280163DCDC2c.689T>G (p.Met230Arg)
gnomAD v4
6g.24290947A>GCA363280166DCDC2c.689T>C (p.Met230Thr)
6g.24290947A>TCA363280194DCDC2c.689T>A (p.Met230Lys)
6g.24290948T>ACA363280197DCDC2c.688A>T (p.Met230Leu)
6g.24290948T>CCA363280199DCDC2c.688A>G (p.Met230Val)
gnomAD v4
6g.24290948T>GCA363280202DCDC2c.688A>C (p.Met230Leu)
6g.24290949C>ACA448951168DCDC2c.687G>T (p.Thr229=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24290949C=CA1616446753DCDC2c.687G= (p.Thr229=)
6g.24290949C>GCA448951169DCDC2c.687G>C (p.Thr229=)
dbSNP
6g.24290949C>TCA3654696DCDC2c.687G>A (p.Thr229=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.24290950G>ACA3654697DCDC2c.686C>T (p.Thr229Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24290950G>CCA363280210DCDC2c.686C>G (p.Thr229Arg)
6g.24290950G=CA1616446758DCDC2c.686C= (p.Thr229=)
6g.24290950G>TCA363280214DCDC2c.686C>A (p.Thr229Lys)
6g.24290951T>ACA363280217DCDC2c.685A>T (p.Thr229Ser)
6g.24290951T>CCA136636018DCDC2c.685A>G (p.Thr229Ala)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24290951T>GCA363280219DCDC2c.685A>C (p.Thr229Pro)
6g.24290951T=CA1616446762DCDC2c.685A= (p.Thr229=)
6g.24290952T>ACA448951170DCDC2c.684A>T (p.Ser228=)
6g.24290952T>CCA448951171DCDC2c.684A>G (p.Ser228=)
6g.24290952T>GCA448951172DCDC2c.684A>C (p.Ser228=)
6g.24290953G>ACA363280223DCDC2c.683C>T (p.Ser228Leu)
6g.24290953G>CCA363280226DCDC2c.683C>G (p.Ser228Ter)
6g.24290953G>TCA363280231DCDC2c.683C>A (p.Ser228Ter)
gnomAD v4
6g.24290954A>CCA363280232DCDC2c.682T>G (p.Ser228Ala)
6g.24290954A>GCA363280234DCDC2c.682T>C (p.Ser228Pro)
6g.24290954A>TCA363280236DCDC2c.682T>A (p.Ser228Thr)
6g.24290955C>ACA363280238DCDC2c.681G>T (p.Lys227Asn)
6g.24290955C=CA1616446769DCDC2c.681G= (p.Lys227=)
6g.24290955C>GCA136636019DCDC2c.681G>C (p.Lys227Asn)
dbSNP gnomAD v4
6g.24290955C>TCA448951173DCDC2c.681G>A (p.Lys227=)
6g.24290956T>ACA363280239DCDC2c.680A>T (p.Lys227Met)
dbSNP
6g.24290956T>CCA363280240DCDC2c.680A>G (p.Lys227Arg)
6g.24290956T>GCA363280241DCDC2c.680A>C (p.Lys227Thr)
gnomAD v4

Number of alleles fetched