Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.111119021A=CA1572628322WDR36c.1805A= (p.Asp602=)
c.1973A= (p.Asp658=)
5g.111119021A>CCA360613445WDR36c.1805A>C (p.Asp602Ala)
c.1973A>C (p.Asp658Ala)
5g.111119021A>GCA115071WDR36c.1805A>G (p.Asp602Gly)
c.1973A>G (p.Asp658Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.111119021A>TCA360613446WDR36c.1805A>T (p.Asp602Val)
c.1973A>T (p.Asp658Val)
5g.111119022C>ACA360613448WDR36c.1806C>A (p.Asp602Glu)
c.1974C>A (p.Asp658Glu)
5g.111119022C=CA1572628323WDR36c.1806C= (p.Asp602=)
c.1974C= (p.Asp658=)
5g.111119022C>GCA360613447WDR36c.1806C>G (p.Asp602Glu)
c.1974C>G (p.Asp658Glu)
dbSNP gnomAD v2 gnomAD v4
5g.111119022C>TCA3365882WDR36c.1806C>T (p.Asp602=)
c.1974C>T (p.Asp658=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.111119023T>ACA360613449WDR36c.1807T>A (p.Cys603Ser)
c.1975T>A (p.Cys659Ser)
gnomAD v4
5g.111119023T>CCA360613451WDR36c.1807T>C (p.Cys603Arg)
c.1975T>C (p.Cys659Arg)
5g.111119023T>GCA360613450WDR36c.1807T>G (p.Cys603Gly)
c.1975T>G (p.Cys659Gly)
5g.111119024G>ACA360613452WDR36c.1808G>A (p.Cys603Tyr)
c.1976G>A (p.Cys659Tyr)
5g.111119024G>CCA360613453WDR36c.1808G>C (p.Cys603Ser)
c.1976G>C (p.Cys659Ser)
5g.111119024G>TCA360613454WDR36c.1808G>T (p.Cys603Phe)
c.1976G>T (p.Cys659Phe)
5g.111119025C>ACA360613455WDR36c.1809C>A (p.Cys603Ter)
c.1977C>A (p.Cys659Ter)
5g.111119025C>GCA360613456WDR36c.1809C>G (p.Cys603Trp)
c.1977C>G (p.Cys659Trp)
gnomAD v4
5g.111119025C>TCA445744818WDR36c.1809C>T (p.Cys603=)
c.1977C>T (p.Cys659=)
5g.111119026T>ACA360613457WDR36c.1810T>A (p.Phe604Ile)
c.1978T>A (p.Phe660Ile)
5g.111119026T>CCA360613458WDR36c.1810T>C (p.Phe604Leu)
c.1978T>C (p.Phe660Leu)
5g.111119026T>GCA360613459WDR36c.1810T>G (p.Phe604Val)
c.1978T>G (p.Phe660Val)
5g.111119030delCA2578377219WDR36c.1814del (p.Leu605CysfsTer?)
c.1982del (p.Leu661CysfsTer?)
5g.111119027T>ACA360613460WDR36c.1811T>A (p.Phe604Tyr)
c.1979T>A (p.Phe660Tyr)
5g.111119027T>CCA360613461WDR36c.1811T>C (p.Phe604Ser)
c.1979T>C (p.Phe660Ser)
5g.111119027T>GCA360613462WDR36c.1811T>G (p.Phe604Cys)
c.1979T>G (p.Phe660Cys)
5g.111119028T>ACA360613463WDR36c.1812T>A (p.Phe604Leu)
c.1980T>A (p.Phe660Leu)
5g.111119028T>CCA445744819WDR36c.1812T>C (p.Phe604=)
c.1980T>C (p.Phe660=)
5g.111119028T>GCA360613464WDR36c.1812T>G (p.Phe604Leu)
c.1980T>G (p.Phe660Leu)
5g.111119029T>ACA360613465WDR36c.1813T>A (p.Leu605Met)
c.1981T>A (p.Leu661Met)
5g.111119029T>CCA3365883WDR36c.1813T>C (p.Leu605=)
c.1981T>C (p.Leu661=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.111119029T>GCA360613466WDR36c.1813T>G (p.Leu605Val)
c.1981T>G (p.Leu661Val)
5g.111119029T=CA1572628324WDR36c.1813T= (p.Leu605=)
c.1981T= (p.Leu661=)
5g.111119030T>ACA360613467WDR36c.1814T>A (p.Leu605Ter)
c.1982T>A (p.Leu661Ter)
5g.111119030T>CCA360613468WDR36c.1814T>C (p.Leu605Ser)
c.1982T>C (p.Leu661Ser)
5g.111119030T>GCA360613469WDR36c.1814T>G (p.Leu605Trp)
c.1982T>G (p.Leu661Trp)
dbSNP gnomAD v4
5g.111119030T=CA1572628325WDR36c.1814T= (p.Leu605=)
c.1982T= (p.Leu661=)
5g.111119031G>ACA445744820WDR36c.1815G>A (p.Leu605=)
c.1983G>A (p.Leu661=)
gnomAD v4
5g.111119031G>CCA360613470WDR36c.1815G>C (p.Leu605Phe)
c.1983G>C (p.Leu661Phe)
5g.111119031G>TCA360613471WDR36c.1815G>T (p.Leu605Phe)
c.1983G>T (p.Leu661Phe)
5g.111119032T>ACA360613472WDR36c.1816T>A (p.Leu606Met)
c.1984T>A (p.Leu662Met)
5g.111119032T>CCA445744821WDR36c.1816T>C (p.Leu606=)
c.1984T>C (p.Leu662=)
gnomAD v4
5g.111119032T>GCA360613473WDR36c.1816T>G (p.Leu606Val)
c.1984T>G (p.Leu662Val)
5g.111119033T>ACA360613474WDR36c.1817T>A (p.Leu606Ter)
c.1985T>A (p.Leu662Ter)
5g.111119033T>CCA360613475WDR36c.1817T>C (p.Leu606Ser)
c.1985T>C (p.Leu662Ser)
5g.111119033T>GCA360613476WDR36c.1817T>G (p.Leu606Trp)
c.1985T>G (p.Leu662Trp)
dbSNP gnomAD v3 gnomAD v4
5g.111119033T=CA1572628326WDR36c.1817T= (p.Leu606=)
c.1985T= (p.Leu662=)
5g.111119034G>ACA124932496WDR36c.1818G>A (p.Leu606=)
c.1986G>A (p.Leu662=)
dbSNP gnomAD v3 gnomAD v4
5g.111119034G>CCA360613478WDR36c.1818G>C (p.Leu606Phe)
c.1986G>C (p.Leu662Phe)
5g.111119034G=CA1572628327WDR36c.1818G= (p.Leu606=)
c.1986G= (p.Leu662=)
5g.111119034G>TCA360613477WDR36c.1818G>T (p.Leu606Phe)
c.1986G>T (p.Leu662Phe)
5g.111119035G>ACA360613481WDR36c.1819G>A (p.Asp607Asn)
c.1987G>A (p.Asp663Asn)
gnomAD v4

Number of alleles fetched