Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.107634825C>ACA451581864SOBPc.1981C>A (p.Arg661=)
c.2134C>A (p.Arg712=)
c.2038C>A (p.Arg680=)
c.2020C>A (p.Arg674=)
c.1393C>A (p.Arg465=)
c.1204C>A (p.Arg402=)
c.1534C>A (p.Arg512=)
gnomAD v4
6g.107634825C=CA1653939346SOBPc.1981C= (p.Arg661=)
c.2134C= (p.Arg712=)
c.2038C= (p.Arg680=)
c.2020C= (p.Arg674=)
c.1393C= (p.Arg465=)
c.1204C= (p.Arg402=)
c.1534C= (p.Arg512=)
6g.107634825C>GCA365171680SOBPc.1981C>G (p.Arg661Gly)
c.2134C>G (p.Arg712Gly)
c.2038C>G (p.Arg680Gly)
c.2020C>G (p.Arg674Gly)
c.1393C>G (p.Arg465Gly)
c.1204C>G (p.Arg402Gly)
c.1534C>G (p.Arg512Gly)
gnomAD v4
6g.107634825C>TCA113783SOBPc.1981C>T (p.Arg661Ter)
c.2134C>T (p.Arg712Ter)
c.2038C>T (p.Arg680Ter)
c.2020C>T (p.Arg674Ter)
c.1393C>T (p.Arg465Ter)
c.1204C>T (p.Arg402Ter)
c.1534C>T (p.Arg512Ter)
ClinVar dbSNP gnomAD v4
6g.107634826G>ACA145013923SOBPc.1982G>A (p.Arg661Gln)
c.2135G>A (p.Arg712Gln)
c.2039G>A (p.Arg680Gln)
c.2021G>A (p.Arg674Gln)
c.1394G>A (p.Arg465Gln)
c.1205G>A (p.Arg402Gln)
c.1535G>A (p.Arg512Gln)
dbSNP gnomAD v2 gnomAD v4
6g.107634826G>CCA365171681SOBPc.1982G>C (p.Arg661Pro)
c.2135G>C (p.Arg712Pro)
c.2039G>C (p.Arg680Pro)
c.2021G>C (p.Arg674Pro)
c.1394G>C (p.Arg465Pro)
c.1205G>C (p.Arg402Pro)
c.1535G>C (p.Arg512Pro)
gnomAD v4
6g.107634826G=CA1653939349SOBPc.1982G= (p.Arg661=)
c.2135G= (p.Arg712=)
c.2039G= (p.Arg680=)
c.2021G= (p.Arg674=)
c.1394G= (p.Arg465=)
c.1205G= (p.Arg402=)
c.1535G= (p.Arg512=)
6g.107634826G>TCA365171682SOBPc.1982G>T (p.Arg661Leu)
c.2135G>T (p.Arg712Leu)
c.2039G>T (p.Arg680Leu)
c.2021G>T (p.Arg674Leu)
c.1394G>T (p.Arg465Leu)
c.1205G>T (p.Arg402Leu)
c.1535G>T (p.Arg512Leu)
gnomAD v4
6g.107634827A=CA1653939351SOBPc.1983A= (p.Arg661=)
c.2136A= (p.Arg712=)
c.2040A= (p.Arg680=)
c.2022A= (p.Arg674=)
c.1395A= (p.Arg465=)
c.1206A= (p.Arg402=)
c.1536A= (p.Arg512=)
6g.107634827A>CCA451581870SOBPc.1983A>C (p.Arg661=)
c.2136A>C (p.Arg712=)
c.2040A>C (p.Arg680=)
c.2022A>C (p.Arg674=)
c.1395A>C (p.Arg465=)
c.1206A>C (p.Arg402=)
c.1536A>C (p.Arg512=)
6g.107634827A>GCA145013927SOBPc.1983A>G (p.Arg661=)
c.2136A>G (p.Arg712=)
c.2040A>G (p.Arg680=)
c.2022A>G (p.Arg674=)
c.1395A>G (p.Arg465=)
c.1206A>G (p.Arg402=)
c.1536A>G (p.Arg512=)
dbSNP gnomAD v4
6g.107634827A>TCA451581872SOBPc.1983A>T (p.Arg661=)
c.2136A>T (p.Arg712=)
c.2040A>T (p.Arg680=)
c.2022A>T (p.Arg674=)
c.1395A>T (p.Arg465=)
c.1206A>T (p.Arg402=)
c.1536A>T (p.Arg512=)
6g.107634828G>ACA365171683SOBPc.1984G>A (p.Ala662Thr)
c.2137G>A (p.Ala713Thr)
c.2041G>A (p.Ala681Thr)
c.2023G>A (p.Ala675Thr)
c.1396G>A (p.Ala466Thr)
c.1207G>A (p.Ala403Thr)
c.1537G>A (p.Ala513Thr)
gnomAD v4
6g.107634828G>CCA365171684SOBPc.1984G>C (p.Ala662Pro)
c.2137G>C (p.Ala713Pro)
c.2041G>C (p.Ala681Pro)
c.2023G>C (p.Ala675Pro)
c.1396G>C (p.Ala466Pro)
c.1207G>C (p.Ala403Pro)
c.1537G>C (p.Ala513Pro)
dbSNP gnomAD v3 gnomAD v4
6g.107634828G=CA1653939353SOBPc.1984G= (p.Ala662=)
c.2137G= (p.Ala713=)
c.2041G= (p.Ala681=)
c.2023G= (p.Ala675=)
c.1396G= (p.Ala466=)
c.1207G= (p.Ala403=)
c.1537G= (p.Ala513=)
6g.107634828G>TCA365171685SOBPc.1984G>T (p.Ala662Ser)
c.2137G>T (p.Ala713Ser)
c.2041G>T (p.Ala681Ser)
c.2023G>T (p.Ala675Ser)
c.1396G>T (p.Ala466Ser)
c.1207G>T (p.Ala403Ser)
c.1537G>T (p.Ala513Ser)
dbSNP gnomAD v2 gnomAD v4
6g.107634829C>ACA365171688SOBPc.1985C>A (p.Ala662Asp)
c.2138C>A (p.Ala713Asp)
c.2042C>A (p.Ala681Asp)
c.2024C>A (p.Ala675Asp)
c.1397C>A (p.Ala466Asp)
c.1208C>A (p.Ala403Asp)
c.1538C>A (p.Ala513Asp)
gnomAD v4
6g.107634829C=CA1653939355SOBPc.1985C= (p.Ala662=)
c.2138C= (p.Ala713=)
c.2042C= (p.Ala681=)
c.2024C= (p.Ala675=)
c.1397C= (p.Ala466=)
c.1208C= (p.Ala403=)
c.1538C= (p.Ala513=)
6g.107634829C>GCA365171687SOBPc.1985C>G (p.Ala662Gly)
c.2138C>G (p.Ala713Gly)
c.2042C>G (p.Ala681Gly)
c.2024C>G (p.Ala675Gly)
c.1397C>G (p.Ala466Gly)
c.1208C>G (p.Ala403Gly)
c.1538C>G (p.Ala513Gly)
6g.107634829C>TCA365171686SOBPc.1985C>T (p.Ala662Val)
c.2138C>T (p.Ala713Val)
c.2042C>T (p.Ala681Val)
c.2024C>T (p.Ala675Val)
c.1397C>T (p.Ala466Val)
c.1208C>T (p.Ala403Val)
c.1538C>T (p.Ala513Val)
dbSNP gnomAD v2 gnomAD v4
6g.107634831delCA2679876764SOBPc.1987del (p.Arg663GlyfsTer5)
c.2140del (p.Arg714GlyfsTer5)
c.2044del (p.Arg682GlyfsTer5)
c.2026del (p.Arg676GlyfsTer5)
c.1399del (p.Arg467GlyfsTer5)
c.1210del (p.Arg404GlyfsTer5)
c.1540del (p.Arg514GlyfsTer5)
gnomAD v4
6g.107634830C>ACA451581878SOBPc.1986C>A (p.Ala662=)
c.2139C>A (p.Ala713=)
c.2043C>A (p.Ala681=)
c.2025C>A (p.Ala675=)
c.1398C>A (p.Ala466=)
c.1209C>A (p.Ala403=)
c.1539C>A (p.Ala513=)
gnomAD v4
6g.107634830C>GCA451581875SOBPc.1986C>G (p.Ala662=)
c.2139C>G (p.Ala713=)
c.2043C>G (p.Ala681=)
c.2025C>G (p.Ala675=)
c.1398C>G (p.Ala466=)
c.1209C>G (p.Ala403=)
c.1539C>G (p.Ala513=)
gnomAD v4
6g.107634830C>TCA451581877SOBPc.1986C>T (p.Ala662=)
c.2139C>T (p.Ala713=)
c.2043C>T (p.Ala681=)
c.2025C>T (p.Ala675=)
c.1398C>T (p.Ala466=)
c.1209C>T (p.Ala403=)
c.1539C>T (p.Ala513=)
dbSNP gnomAD v4
6g.107634831C>ACA451581879SOBPc.1987C>A (p.Arg663=)
c.2140C>A (p.Arg714=)
c.2044C>A (p.Arg682=)
c.2026C>A (p.Arg676=)
c.1399C>A (p.Arg467=)
c.1210C>A (p.Arg404=)
c.1540C>A (p.Arg514=)
dbSNP gnomAD v4
6g.107634831C=CA1653939357SOBPc.1987C= (p.Arg663=)
c.2140C= (p.Arg714=)
c.2044C= (p.Arg682=)
c.2026C= (p.Arg676=)
c.1399C= (p.Arg467=)
c.1210C= (p.Arg404=)
c.1540C= (p.Arg514=)
6g.107634831C>GCA365171689SOBPc.1987C>G (p.Arg663Gly)
c.2140C>G (p.Arg714Gly)
c.2044C>G (p.Arg682Gly)
c.2026C>G (p.Arg676Gly)
c.1399C>G (p.Arg467Gly)
c.1210C>G (p.Arg404Gly)
c.1540C>G (p.Arg514Gly)
gnomAD v4
6g.107634831C>TCA365171690SOBPc.1987C>T (p.Arg663Trp)
c.2140C>T (p.Arg714Trp)
c.2044C>T (p.Arg682Trp)
c.2026C>T (p.Arg676Trp)
c.1399C>T (p.Arg467Trp)
c.1210C>T (p.Arg404Trp)
c.1540C>T (p.Arg514Trp)
gnomAD v4
6g.107634832G>ACA365171691SOBPc.1988G>A (p.Arg663Gln)
c.2141G>A (p.Arg714Gln)
c.2045G>A (p.Arg682Gln)
c.2027G>A (p.Arg676Gln)
c.1400G>A (p.Arg467Gln)
c.1211G>A (p.Arg404Gln)
c.1541G>A (p.Arg514Gln)
dbSNP gnomAD v4
6g.107634832G>CCA365171692SOBPc.1988G>C (p.Arg663Pro)
c.2141G>C (p.Arg714Pro)
c.2045G>C (p.Arg682Pro)
c.2027G>C (p.Arg676Pro)
c.1400G>C (p.Arg467Pro)
c.1211G>C (p.Arg404Pro)
c.1541G>C (p.Arg514Pro)
gnomAD v4
6g.107634832G=CA1653939358SOBPc.1988G= (p.Arg663=)
c.2141G= (p.Arg714=)
c.2045G= (p.Arg682=)
c.2027G= (p.Arg676=)
c.1400G= (p.Arg467=)
c.1211G= (p.Arg404=)
c.1541G= (p.Arg514=)
6g.107634832G>TCA365171693SOBPc.1988G>T (p.Arg663Leu)
c.2141G>T (p.Arg714Leu)
c.2045G>T (p.Arg682Leu)
c.2027G>T (p.Arg676Leu)
c.1400G>T (p.Arg467Leu)
c.1211G>T (p.Arg404Leu)
c.1541G>T (p.Arg514Leu)
gnomAD v4 COSMIC
6g.107634833delCA2772523111SOBPc.1989del (p.Leu664CysfsTer4)
c.2142del (p.Leu715CysfsTer4)
c.2046del (p.Leu683CysfsTer4)
c.2028del (p.Leu677CysfsTer4)
c.1401del (p.Leu468CysfsTer4)
c.1212del (p.Leu405CysfsTer4)
c.1542del (p.Leu515CysfsTer4)
6g.107634833G>ACA451581884SOBPc.1989G>A (p.Arg663=)
c.2142G>A (p.Arg714=)
c.2046G>A (p.Arg682=)
c.2028G>A (p.Arg676=)
c.1401G>A (p.Arg467=)
c.1212G>A (p.Arg404=)
c.1542G>A (p.Arg514=)
gnomAD v4
6g.107634833G>CCA451581883SOBPc.1989G>C (p.Arg663=)
c.2142G>C (p.Arg714=)
c.2046G>C (p.Arg682=)
c.2028G>C (p.Arg676=)
c.1401G>C (p.Arg467=)
c.1212G>C (p.Arg404=)
c.1542G>C (p.Arg514=)
gnomAD v4
6g.107634833G>TCA451581881SOBPc.1989G>T (p.Arg663=)
c.2142G>T (p.Arg714=)
c.2046G>T (p.Arg682=)
c.2028G>T (p.Arg676=)
c.1401G>T (p.Arg467=)
c.1212G>T (p.Arg404=)
c.1542G>T (p.Arg514=)
gnomAD v4
6g.107634834C>ACA365171694SOBPc.1990C>A (p.Leu664Met)
c.2143C>A (p.Leu715Met)
c.2047C>A (p.Leu683Met)
c.2029C>A (p.Leu677Met)
c.1402C>A (p.Leu468Met)
c.1213C>A (p.Leu405Met)
c.1543C>A (p.Leu515Met)
dbSNP gnomAD v4
6g.107634834C=CA1653939359SOBPc.1990C= (p.Leu664=)
c.2143C= (p.Leu715=)
c.2047C= (p.Leu683=)
c.2029C= (p.Leu677=)
c.1402C= (p.Leu468=)
c.1213C= (p.Leu405=)
c.1543C= (p.Leu515=)
6g.107634834C>GCA365171695SOBPc.1990C>G (p.Leu664Val)
c.2143C>G (p.Leu715Val)
c.2047C>G (p.Leu683Val)
c.2029C>G (p.Leu677Val)
c.1402C>G (p.Leu468Val)
c.1213C>G (p.Leu405Val)
c.1543C>G (p.Leu515Val)
6g.107634834C>TCA451581890SOBPc.1990C>T (p.Leu664=)
c.2143C>T (p.Leu715=)
c.2047C>T (p.Leu683=)
c.2029C>T (p.Leu677=)
c.1402C>T (p.Leu468=)
c.1213C>T (p.Leu405=)
c.1543C>T (p.Leu515=)
dbSNP gnomAD v2 gnomAD v4
6g.107634835T>ACA365171696SOBPc.1991T>A (p.Leu664Gln)
c.2144T>A (p.Leu715Gln)
c.2048T>A (p.Leu683Gln)
c.2030T>A (p.Leu677Gln)
c.1403T>A (p.Leu468Gln)
c.1214T>A (p.Leu405Gln)
c.1544T>A (p.Leu515Gln)
6g.107634835T>CCA365171697SOBPc.1991T>C (p.Leu664Pro)
c.2144T>C (p.Leu715Pro)
c.2048T>C (p.Leu683Pro)
c.2030T>C (p.Leu677Pro)
c.1403T>C (p.Leu468Pro)
c.1214T>C (p.Leu405Pro)
c.1544T>C (p.Leu515Pro)
gnomAD v4
6g.107634835T>GCA365171698SOBPc.1991T>G (p.Leu664Arg)
c.2144T>G (p.Leu715Arg)
c.2048T>G (p.Leu683Arg)
c.2030T>G (p.Leu677Arg)
c.1403T>G (p.Leu468Arg)
c.1214T>G (p.Leu405Arg)
c.1544T>G (p.Leu515Arg)
6g.107634836delCA2679876765SOBPc.1992del (p.His665ThrfsTer3)
c.2145del (p.His716ThrfsTer3)
c.2049del (p.His684ThrfsTer3)
c.2031del (p.His678ThrfsTer3)
c.1404del (p.His469ThrfsTer3)
c.1215del (p.His406ThrfsTer3)
c.1545del (p.His516ThrfsTer3)
gnomAD v4
6g.107634836G>ACA451581892SOBPc.1992G>A (p.Leu664=)
c.2145G>A (p.Leu715=)
c.2049G>A (p.Leu683=)
c.2031G>A (p.Leu677=)
c.1404G>A (p.Leu468=)
c.1215G>A (p.Leu405=)
c.1545G>A (p.Leu515=)
dbSNP gnomAD v2 gnomAD v4
6g.107634836G>CCA451581894SOBPc.1992G>C (p.Leu664=)
c.2145G>C (p.Leu715=)
c.2049G>C (p.Leu683=)
c.2031G>C (p.Leu677=)
c.1404G>C (p.Leu468=)
c.1215G>C (p.Leu405=)
c.1545G>C (p.Leu515=)
gnomAD v4
6g.107634836G=CA1653939361SOBPc.1992G= (p.Leu664=)
c.2145G= (p.Leu715=)
c.2049G= (p.Leu683=)
c.2031G= (p.Leu677=)
c.1404G= (p.Leu468=)
c.1215G= (p.Leu405=)
c.1545G= (p.Leu515=)
6g.107634836G>TCA451581893SOBPc.1992G>T (p.Leu664=)
c.2145G>T (p.Leu715=)
c.2049G>T (p.Leu683=)
c.2031G>T (p.Leu677=)
c.1404G>T (p.Leu468=)
c.1215G>T (p.Leu405=)
c.1545G>T (p.Leu515=)
gnomAD v4
6g.107634837C>ACA365171699SOBPc.1993C>A (p.His665Asn)
c.2146C>A (p.His716Asn)
c.2050C>A (p.His684Asn)
c.2032C>A (p.His678Asn)
c.1405C>A (p.His469Asn)
c.1216C>A (p.His406Asn)
c.1546C>A (p.His516Asn)
gnomAD v4
6g.107634837C>GCA365171700SOBPc.1993C>G (p.His665Asp)
c.2146C>G (p.His716Asp)
c.2050C>G (p.His684Asp)
c.2032C>G (p.His678Asp)
c.1405C>G (p.His469Asp)
c.1216C>G (p.His406Asp)
c.1546C>G (p.His516Asp)
gnomAD v4

Number of alleles fetched