Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.110812309_110812310delinsTTCA645568266RBM20c.1912_1913delinsTT (p.Pro638Leu)
c.1528_1529delinsTT (p.Pro510Leu)
c.1747_1748delinsTT (p.Pro583Leu)
 COSMIC
10g.110812310C>ACA16042702RBM20c.1913C>A (p.Pro638Gln)
c.1529C>A (p.Pro510Gln)
c.1748C>A (p.Pro583Gln)
 ClinVar dbSNP
10g.110812310C>GCA335549RBM20c.1913C>G (p.Pro638Arg)
c.1529C>G (p.Pro510Arg)
c.1748C>G (p.Pro583Arg)
 ClinVar dbSNP
10g.110812310C>TCA251405RBM20c.1913C>T (p.Pro638Leu)
c.1529C>T (p.Pro510Leu)
c.1748C>T (p.Pro583Leu)
 ClinVar dbSNP gnomAD v4
10g.110812311G>ACA133289RBM20c.1914G>A (p.Pro638=)
c.1530G>A (p.Pro510=)
c.1749G>A (p.Pro583=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812311G>CCA471368047RBM20c.1914G>C (p.Pro638=)
c.1530G>C (p.Pro510=)
c.1749G>C (p.Pro583=)
10g.110812311G=CA2580967529RBM20c.1914G= (p.Pro638=)
c.1530G= (p.Pro510=)
c.1749G= (p.Pro583=)
10g.110812311G>TCA471368048RBM20c.1914G>T (p.Pro638=)
c.1530G>T (p.Pro510=)
c.1749G>T (p.Pro583=)
 gnomAD v4
10g.110812312G>ACA378370339RBM20c.1915G>A (p.Val639Met)
c.1531G>A (p.Val511Met)
c.1750G>A (p.Val584Met)
 ClinVar dbSNP
10g.110812312G>CCA378370341RBM20c.1915G>C (p.Val639Leu)
c.1531G>C (p.Val511Leu)
c.1750G>C (p.Val584Leu)
10g.110812312G>TCA378370343RBM20c.1915G>T (p.Val639Leu)
c.1531G>T (p.Val511Leu)
c.1750G>T (p.Val584Leu)
10g.110812313T>ACA378370348RBM20c.1916T>A (p.Val639Glu)
c.1532T>A (p.Val511Glu)
c.1751T>A (p.Val584Glu)
 gnomAD v4
10g.110812313T>CCA378370347RBM20c.1916T>C (p.Val639Ala)
c.1532T>C (p.Val511Ala)
c.1751T>C (p.Val584Ala)
10g.110812313T>GCA378370345RBM20c.1916T>G (p.Val639Gly)
c.1532T>G (p.Val511Gly)
c.1751T>G (p.Val584Gly)
10g.110812314G>ACA471368049RBM20c.1917G>A (p.Val639=)
c.1533G>A (p.Val511=)
c.1752G>A (p.Val584=)
10g.110812314G>CCA471368050RBM20c.1917G>C (p.Val639=)
c.1533G>C (p.Val511=)
c.1752G>C (p.Val584=)
 dbSNP gnomAD v3 gnomAD v4
10g.110812314G>TCA471368051RBM20c.1917G>T (p.Val639=)
c.1533G>T (p.Val511=)
c.1752G>T (p.Val584=)
10g.110812315A>CCA378370351RBM20c.1918A>C (p.Ser640Arg)
c.1534A>C (p.Ser512Arg)
c.1753A>C (p.Ser585Arg)
10g.110812315A>GCA378370353RBM20c.1918A>G (p.Ser640Gly)
c.1534A>G (p.Ser512Gly)
c.1753A>G (p.Ser585Gly)
10g.110812315A>TCA378370354RBM20c.1918A>T (p.Ser640Cys)
c.1534A>T (p.Ser512Cys)
c.1753A>T (p.Ser585Cys)
10g.110812316G>ACA378370357RBM20c.1919G>A (p.Ser640Asn)
c.1535G>A (p.Ser512Asn)
c.1754G>A (p.Ser585Asn)
10g.110812316G>CCA378370358RBM20c.1919G>C (p.Ser640Thr)
c.1535G>C (p.Ser512Thr)
c.1754G>C (p.Ser585Thr)
10g.110812316G>TCA378370360RBM20c.1919G>T (p.Ser640Ile)
c.1535G>T (p.Ser512Ile)
c.1754G>T (p.Ser585Ile)
 dbSNP gnomAD v2 gnomAD v4
10g.110812317C>ACA378370363RBM20c.1920C>A (p.Ser640Arg)
c.1536C>A (p.Ser512Arg)
c.1755C>A (p.Ser585Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812317C>GCA378370365RBM20c.1920C>G (p.Ser640Arg)
c.1536C>G (p.Ser512Arg)
c.1755C>G (p.Ser585Arg)
 dbSNP gnomAD v3 gnomAD v4
10g.110812317C>TCA471368052RBM20c.1920C>T (p.Ser640=)
c.1536C>T (p.Ser512=)
c.1755C>T (p.Ser585=)
 ClinVar dbSNP gnomAD v4
10g.110812318C>ACA471368053RBM20c.1921C>A (p.Arg641=)
c.1537C>A (p.Arg513=)
c.1756C>A (p.Arg586=)
10g.110812318C>GCA378370366RBM20c.1921C>G (p.Arg641Gly)
c.1537C>G (p.Arg513Gly)
c.1756C>G (p.Arg586Gly)
10g.110812318C>TCA5688650RBM20c.1921C>T (p.Arg641Trp)
c.1537C>T (p.Arg513Trp)
c.1756C>T (p.Arg586Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812319G>ACA335551RBM20c.1922G>A (p.Arg641Gln)
c.1538G>A (p.Arg513Gln)
c.1757G>A (p.Arg586Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110812319G>CCA378370370RBM20c.1922G>C (p.Arg641Pro)
c.1538G>C (p.Arg513Pro)
c.1757G>C (p.Arg586Pro)
 dbSNP
10g.110812319G>TCA378370372RBM20c.1922G>T (p.Arg641Leu)
c.1538G>T (p.Arg513Leu)
c.1757G>T (p.Arg586Leu)
10g.110812320G>ACA213223599RBM20c.1923G>A (p.Arg641=)
c.1539G>A (p.Arg513=)
c.1758G>A (p.Arg586=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110812320G>CCA471368054RBM20c.1923G>C (p.Arg641=)
c.1539G>C (p.Arg513=)
c.1758G>C (p.Arg586=)
10g.110812320G>TCA471368055RBM20c.1923G>T (p.Arg641=)
c.1539G>T (p.Arg513=)
c.1758G>T (p.Arg586=)
 gnomAD v4
10g.110812321T>ACA378370378RBM20c.1924T>A (p.Ser642Thr)
c.1540T>A (p.Ser514Thr)
c.1759T>A (p.Ser587Thr)
10g.110812321T>CCA378370374RBM20c.1924T>C (p.Ser642Pro)
c.1540T>C (p.Ser514Pro)
c.1759T>C (p.Ser587Pro)
10g.110812321T>GCA378370376RBM20c.1924T>G (p.Ser642Ala)
c.1540T>G (p.Ser514Ala)
c.1759T>G (p.Ser587Ala)
10g.110812322C>ACA378370380RBM20c.1925C>A (p.Ser642Ter)
c.1541C>A (p.Ser514Ter)
c.1760C>A (p.Ser587Ter)
 gnomAD v4
10g.110812322C>GCA378370382RBM20c.1925C>G (p.Ser642Ter)
c.1541C>G (p.Ser514Ter)
c.1760C>G (p.Ser587Ter)
10g.110812322C>TCA378370384RBM20c.1925C>T (p.Ser642Leu)
c.1541C>T (p.Ser514Leu)
c.1760C>T (p.Ser587Leu)
10g.110812323A>CCA471368056RBM20c.1926A>C (p.Ser642=)
c.1542A>C (p.Ser514=)
c.1761A>C (p.Ser587=)
 dbSNP gnomAD v4
10g.110812323A>GCA471368057RBM20c.1926A>G (p.Ser642=)
c.1542A>G (p.Ser514=)
c.1761A>G (p.Ser587=)
10g.110812323A>TCA471368058RBM20c.1926A>T (p.Ser642=)
c.1542A>T (p.Ser514=)
c.1761A>T (p.Ser587=)
10g.110812324C>ACA378370385RBM20c.1927C>A (p.Leu643Ile)
c.1543C>A (p.Leu515Ile)
c.1762C>A (p.Leu588Ile)
10g.110812324C>GCA378370387RBM20c.1927C>G (p.Leu643Val)
c.1543C>G (p.Leu515Val)
c.1762C>G (p.Leu588Val)
10g.110812324C>TCA378370389RBM20c.1927C>T (p.Leu643Phe)
c.1543C>T (p.Leu515Phe)
c.1762C>T (p.Leu588Phe)
10g.110812325T>ACA378370391RBM20c.1928T>A (p.Leu643His)
c.1544T>A (p.Leu515His)
c.1763T>A (p.Leu588His)
10g.110812325T>CCA378370393RBM20c.1928T>C (p.Leu643Pro)
c.1544T>C (p.Leu515Pro)
c.1763T>C (p.Leu588Pro)
10g.110812325T>GCA378370395RBM20c.1928T>G (p.Leu643Arg)
c.1544T>G (p.Leu515Arg)
c.1763T>G (p.Leu588Arg)

Number of alleles fetched