Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.49457687_49457692delCA2695206678MMUTc.753_753+5del
6g.49457689A=CA1627392053MMUTc.753+2T= (n.753+2T=)
6g.49457689A>CCA364403551MMUTc.753+2T>G (n.753+2T>G)
6g.49457689A>GCA364403550MMUTc.753+2T>C (n.753+2T>C)
6g.49457689A>TCA312780MMUTc.753+2T>A (n.753+2T>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.49457690C>ACA364403552MMUTc.753+1G>T (n.753+1G>T)
gnomAD v4
6g.49457690C=CA1627392054MMUTc.753+1G= (n.753+1G=)
6g.49457690C>GCA364403554MMUTc.753+1G>C (n.753+1G>C)
6g.49457690C>TCA138799322MMUTc.753+1G>A (n.753+1G>A)
ClinVar dbSNP gnomAD v4
6g.49457690delinsTAATAACCACA2695206679MMUTc.753+1delinsTGGTTATTA (n.753+1delinsTGGTTATTA)
6g.49457691C>ACA364403556MMUTc.753G>T (p.Lys251Asn)
6g.49457691C=CA1627392055MMUTc.753G= (p.Lys251=)
6g.49457691C>GCA234289MMUTc.753G>C (p.Lys251Asn)
ClinVar dbSNP
6g.49457691C>TCA450608731MMUTc.753G>A (p.Lys251=)
dbSNP gnomAD v2
6g.49457692T>ACA364403562MMUTc.752A>T (p.Lys251Met)
dbSNP gnomAD v2 gnomAD v4
6g.49457692T>CCA364403568MMUTc.752A>G (p.Lys251Arg)
6g.49457692T>GCA364403571MMUTc.752A>C (p.Lys251Thr)
dbSNP gnomAD v3 gnomAD v4
6g.49457692T=CA1627392056MMUTc.752A= (p.Lys251=)
6g.49457693T>ACA364403575MMUTc.751A>T (p.Lys251Ter)
ClinVar dbSNP
6g.49457693T>CCA364403581MMUTc.751A>G (p.Lys251Glu)
dbSNP gnomAD v2
6g.49457693T>GCA364403583MMUTc.751A>C (p.Lys251Gln)
6g.49457693T=CA1627392057MMUTc.751A= (p.Lys251=)
6g.49457694T>ACA450608732MMUTc.750A>T (p.Ala250=)
6g.49457694T>CCA450608733MMUTc.750A>G (p.Ala250=)
6g.49457694T>GCA450608734MMUTc.750A>C (p.Ala250=)
6g.49457695G>ACA364403599MMUTc.749C>T (p.Ala250Val)
6g.49457695G>CCA364403596MMUTc.749C>G (p.Ala250Gly)
6g.49457695G>TCA364403587MMUTc.749C>A (p.Ala250Glu)
6g.49457696C>ACA364403603MMUTc.748G>T (p.Ala250Ser)
6g.49457696C=CA1627392058MMUTc.748G= (p.Ala250=)
6g.49457696C>GCA364403604MMUTc.748G>C (p.Ala250Pro)
6g.49457696C>TCA364403605MMUTc.748G>A (p.Ala250Thr)
dbSNP gnomAD v2 gnomAD v4
6g.49457697T>ACA450608735MMUTc.747A>T (p.Thr249=)
6g.49457697T>CCA450608736MMUTc.747A>G (p.Thr249=)
gnomAD v4
6g.49457697T>GCA450608737MMUTc.747A>C (p.Thr249=)
dbSNP
6g.49457697T=CA1627392059MMUTc.747A= (p.Thr249=)
6g.49457698G>ACA3847057MMUTc.746C>T (p.Thr249Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.49457698G>CCA364403606MMUTc.746C>G (p.Thr249Arg)
6g.49457698G=CA1627392060MMUTc.746C= (p.Thr249=)
6g.49457698G>TCA364403607MMUTc.746C>A (p.Thr249Lys)
6g.49457699T>ACA364403610MMUTc.745A>T (p.Thr249Ser)
6g.49457699T>CCA364403619MMUTc.745A>G (p.Thr249Ala)
dbSNP
6g.49457699T>GCA364403617MMUTc.745A>C (p.Thr249Pro)
6g.49457700A=CA1627392061MMUTc.744T= (p.Tyr248=)
6g.49457700A>CCA364403622MMUTc.744T>G (p.Tyr248Ter)
6g.49457700A>GCA3847058MMUTc.744T>C (p.Tyr248=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.49457700A>TCA364403628MMUTc.744T>A (p.Tyr248Ter)
6g.49457701T>ACA364403641MMUTc.743A>T (p.Tyr248Phe)
6g.49457701T>CCA3847059MMUTc.743A>G (p.Tyr248Cys)
ClinVar dbSNP ExAC
6g.49457701T>GCA364403646MMUTc.743A>C (p.Tyr248Ser)
gnomAD v4

Number of alleles fetched