Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.18543095C>ACA509829310SEC23Bc.1588C>A (p.Arg530=)
c.1534C>A (p.Arg512=)
c.112C>A (p.Arg38=)
20g.18543095C=CA2353564545SEC23Bc.1588C= (p.Arg530=)
c.1534C= (p.Arg512=)
c.112C= (p.Arg38=)
20g.18543095C>GCA408364104SEC23Bc.1588C>G (p.Arg530Gly)
c.1534C>G (p.Arg512Gly)
c.112C>G (p.Arg38Gly)
20g.18543095C>TCA114849SEC23Bc.1588C>T (p.Arg530Trp)
c.1534C>T (p.Arg512Trp)
c.112C>T (p.Arg38Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.18543096G>ACA9778414SEC23Bc.1589G>A (p.Arg530Gln)
c.1535G>A (p.Arg512Gln)
c.113G>A (p.Arg38Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.18543096G>CCA408364105SEC23Bc.1589G>C (p.Arg530Pro)
c.1535G>C (p.Arg512Pro)
c.113G>C (p.Arg38Pro)
 gnomAD v4
20g.18543096G=CA2353564546SEC23Bc.1589G= (p.Arg530=)
c.1535G= (p.Arg512=)
c.113G= (p.Arg38=)
20g.18543096G>TCA408364106SEC23Bc.1589G>T (p.Arg530Leu)
c.1535G>T (p.Arg512Leu)
c.113G>T (p.Arg38Leu)
20g.18543097G>ACA509829318SEC23Bc.1590G>A (p.Arg530=)
c.1536G>A (p.Arg512=)
c.114G>A (p.Arg38=)
20g.18543097G>CCA312406962SEC23Bc.1590G>C (p.Arg530=)
c.1536G>C (p.Arg512=)
c.114G>C (p.Arg38=)
 dbSNP gnomAD v4
20g.18543097G=CA2353564547SEC23Bc.1590G= (p.Arg530=)
c.1536G= (p.Arg512=)
c.114G= (p.Arg38=)
20g.18543097G>TCA509829319SEC23Bc.1590G>T (p.Arg530=)
c.1536G>T (p.Arg512=)
c.114G>T (p.Arg38=)
20g.18543098C>ACA408364107SEC23Bc.1591C>A (p.Leu531Ile)
c.1537C>A (p.Leu513Ile)
c.115C>A (p.Leu39Ile)
20g.18543098C>GCA408364108SEC23Bc.1591C>G (p.Leu531Val)
c.1537C>G (p.Leu513Val)
c.115C>G (p.Leu39Val)
20g.18543098C>TCA408364109SEC23Bc.1591C>T (p.Leu531Phe)
c.1537C>T (p.Leu513Phe)
c.115C>T (p.Leu39Phe)
20g.18543099T>ACA408364110SEC23Bc.1592T>A (p.Leu531His)
c.1538T>A (p.Leu513His)
c.116T>A (p.Leu39His)
20g.18543099T>CCA408364112SEC23Bc.1592T>C (p.Leu531Pro)
c.1538T>C (p.Leu513Pro)
c.116T>C (p.Leu39Pro)
20g.18543099T>GCA408364111SEC23Bc.1592T>G (p.Leu531Arg)
c.1538T>G (p.Leu513Arg)
c.116T>G (p.Leu39Arg)
20g.18543100T>ACA509829323SEC23Bc.1593T>A (p.Leu531=)
c.1539T>A (p.Leu513=)
c.117T>A (p.Leu39=)
20g.18543100T>CCA509829326SEC23Bc.1593T>C (p.Leu531=)
c.1539T>C (p.Leu513=)
c.117T>C (p.Leu39=)
20g.18543100T>GCA509829325SEC23Bc.1593T>G (p.Leu531=)
c.1539T>G (p.Leu513=)
c.117T>G (p.Leu39=)
20g.18543101G>ACA408364113SEC23Bc.1594G>A (p.Gly532Arg)
c.1540G>A (p.Gly514Arg)
c.118G>A (p.Gly40Arg)
20g.18543101G>CCA408364114SEC23Bc.1594G>C (p.Gly532Arg)
c.1540G>C (p.Gly514Arg)
c.118G>C (p.Gly40Arg)
20g.18543101G>TCA408364115SEC23Bc.1594G>T (p.Gly532Trp)
c.1540G>T (p.Gly514Trp)
c.118G>T (p.Gly40Trp)
20g.18543102G>ACA408364116SEC23Bc.1595G>A (p.Gly532Glu)
c.1541G>A (p.Gly514Glu)
c.119G>A (p.Gly40Glu)
20g.18543102G>CCA9778415SEC23Bc.1595G>C (p.Gly532Ala)
c.1541G>C (p.Gly514Ala)
c.119G>C (p.Gly40Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543102G=CA2353564548SEC23Bc.1595G= (p.Gly532=)
c.1541G= (p.Gly514=)
c.119G= (p.Gly40=)
20g.18543102G>TCA408364117SEC23Bc.1595G>T (p.Gly532Val)
c.1541G>T (p.Gly514Val)
c.119G>T (p.Gly40Val)
20g.18543103G>ACA509829328SEC23Bc.1596G>A (p.Gly532=)
c.1542G>A (p.Gly514=)
c.120G>A (p.Gly40=)
20g.18543103G>CCA9778416SEC23Bc.1596G>C (p.Gly532=)
c.1542G>C (p.Gly514=)
c.120G>C (p.Gly40=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.18543103G=CA2353564549SEC23Bc.1596G= (p.Gly532=)
c.1542G= (p.Gly514=)
c.120G= (p.Gly40=)
20g.18543103G>TCA509829329SEC23Bc.1596G>T (p.Gly532=)
c.1542G>T (p.Gly514=)
c.120G>T (p.Gly40=)
20g.18543104G>ACA408364118SEC23Bc.1597G>A (p.Val533Met)
c.1543G>A (p.Val515Met)
c.121G>A (p.Val41Met)
20g.18543104G>CCA408364119SEC23Bc.1597G>C (p.Val533Leu)
c.1543G>C (p.Val515Leu)
c.121G>C (p.Val41Leu)
20g.18543104G>TCA408364120SEC23Bc.1597G>T (p.Val533Leu)
c.1543G>T (p.Val515Leu)
c.121G>T (p.Val41Leu)
20g.18543105T>ACA408364123SEC23Bc.1598T>A (p.Val533Glu)
c.1544T>A (p.Val515Glu)
c.122T>A (p.Val41Glu)
20g.18543105T>CCA408364122SEC23Bc.1598T>C (p.Val533Ala)
c.1544T>C (p.Val515Ala)
c.122T>C (p.Val41Ala)
20g.18543105T>GCA408364121SEC23Bc.1598T>G (p.Val533Gly)
c.1544T>G (p.Val515Gly)
c.122T>G (p.Val41Gly)
 dbSNP gnomAD v2
20g.18543105T=CA2353564550SEC23Bc.1598T= (p.Val533=)
c.1544T= (p.Val515=)
c.122T= (p.Val41=)
20g.18543106G>ACA509829332SEC23Bc.1599G>A (p.Val533=)
c.1545G>A (p.Val515=)
c.123G>A (p.Val41=)
 gnomAD v4
20g.18543106G>CCA509829333SEC23Bc.1599G>C (p.Val533=)
c.1545G>C (p.Val515=)
c.123G>C (p.Val41=)
20g.18543106G>TCA509829334SEC23Bc.1599G>T (p.Val533=)
c.1545G>T (p.Val515=)
c.123G>T (p.Val41=)
 gnomAD v4 COSMIC
20g.18543107T>ACA408364124SEC23Bc.1600T>A (p.Phe534Ile)
c.1546T>A (p.Phe516Ile)
c.124T>A (p.Phe42Ile)
20g.18543107T>CCA408364125SEC23Bc.1600T>C (p.Phe534Leu)
c.1546T>C (p.Phe516Leu)
c.124T>C (p.Phe42Leu)
 COSMIC
20g.18543107T>GCA408364126SEC23Bc.1600T>G (p.Phe534Val)
c.1546T>G (p.Phe516Val)
c.124T>G (p.Phe42Val)
20g.18543108T>ACA408364127SEC23Bc.1601T>A (p.Phe534Tyr)
c.1547T>A (p.Phe516Tyr)
c.125T>A (p.Phe42Tyr)
20g.18543108T>CCA408364128SEC23Bc.1601T>C (p.Phe534Ser)
c.1547T>C (p.Phe516Ser)
c.125T>C (p.Phe42Ser)
20g.18543108T>GCA408364129SEC23Bc.1601T>G (p.Phe534Cys)
c.1547T>G (p.Phe516Cys)
c.125T>G (p.Phe42Cys)
20g.18543109C>ACA408364130SEC23Bc.1602C>A (p.Phe534Leu)
c.1548C>A (p.Phe516Leu)
c.126C>A (p.Phe42Leu)
20g.18543109C=CA2353564551SEC23Bc.1602C= (p.Phe534=)
c.1548C= (p.Phe516=)
c.126C= (p.Phe42=)

Number of alleles fetched