Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.111119030delCA2578377219WDR36c.1814del (p.Leu605CysfsTer?)
c.1982del (p.Leu661CysfsTer?)
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
5g.111119035G>CCA360613479WDR36c.1819G>C (p.Asp607His)
c.1987G>C (p.Asp663His)
5g.111119035G>TCA360613480WDR36c.1819G>T (p.Asp607Tyr)
c.1987G>T (p.Asp663Tyr)
5g.111119036A>CCA360613482WDR36c.1820A>C (p.Asp607Ala)
c.1988A>C (p.Asp663Ala)
5g.111119036A>GCA360613483WDR36c.1820A>G (p.Asp607Gly)
c.1988A>G (p.Asp663Gly)
5g.111119036A>TCA360613484WDR36c.1820A>T (p.Asp607Val)
c.1988A>T (p.Asp663Val)
5g.111119037C>ACA360613485WDR36c.1821C>A (p.Asp607Glu)
c.1989C>A (p.Asp663Glu)
5g.111119037C>GCA360613486WDR36c.1821C>G (p.Asp607Glu)
c.1989C>G (p.Asp663Glu)
5g.111119037C>TCA445744822WDR36c.1821C>T (p.Asp607=)
c.1989C>T (p.Asp663=)
5g.111119038T>ACA360613487WDR36c.1822T>A (p.Ser608Thr)
c.1990T>A (p.Ser664Thr)
5g.111119038T>CCA360613489WDR36c.1822T>C (p.Ser608Pro)
c.1990T>C (p.Ser664Pro)
5g.111119038T>GCA360613488WDR36c.1822T>G (p.Ser608Ala)
c.1990T>G (p.Ser664Ala)
5g.111119039C>ACA360613490WDR36c.1823C>A (p.Ser608Ter)
c.1991C>A (p.Ser664Ter)
5g.111119039C=CA1572628328WDR36c.1823C= (p.Ser608=)
c.1991C= (p.Ser664=)
5g.111119039C>GCA360613491WDR36c.1823C>G (p.Ser608Trp)
c.1991C>G (p.Ser664Trp)
dbSNP gnomAD v2 gnomAD v4
5g.111119039C>TCA3365884WDR36c.1823C>T (p.Ser608Leu)
c.1991C>T (p.Ser664Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.111119040G>ACA3365885WDR36c.1824G>A (p.Ser608=)
c.1992G>A (p.Ser664=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.111119040G>CCA445744823WDR36c.1824G>C (p.Ser608=)
c.1992G>C (p.Ser664=)
5g.111119040G=CA1572628329WDR36c.1824G= (p.Ser608=)
c.1992G= (p.Ser664=)
5g.111119040G>TCA445744824WDR36c.1824G>T (p.Ser608=)
c.1992G>T (p.Ser664=)
gnomAD v4
5g.111119041G>ACA360613492WDR36c.1825G>A (p.Ala609Thr)
c.1993G>A (p.Ala665Thr)
5g.111119041G>CCA360613494WDR36c.1825G>C (p.Ala609Pro)
c.1993G>C (p.Ala665Pro)
5g.111119041G>TCA360613493WDR36c.1825G>T (p.Ala609Ser)
c.1993G>T (p.Ala665Ser)
5g.111119042C>ACA360613495WDR36c.1826C>A (p.Ala609Asp)
c.1994C>A (p.Ala665Asp)

Number of alleles fetched