Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.49118766T>ACA402507013DYMc.1889A>T (p.Asp630Val)
c.1724A>T (p.Asp575Val)
c.1154A>T (p.Asp385Val)
c.1721A>T (p.Asp574Val)
c.1556A>T (p.Asp519Val)
c.1564-21251A>T (n.1564-21251A>T)
c.1886A>T (p.Asp629Val)
c.1729-21251A>T (n.1729-21251A>T)
c.1718A>T (p.Asp573Val)
c.1544A>T (p.Asp515Val)
c.1561-21251A>T (n.1561-21251A>T)
c.1558-21251A>T (n.1558-21251A>T)
n.2081A>T
c.1883A>T (p.Asp628Val)
c.1763A>T (p.Asp588Val)
c.1598A>T (p.Asp533Val)
c.1541A>T (p.Asp514Val)
c.1496A>T (p.Asp499Val)
c.1319A>T (p.Asp440Val)
c.1151A>T (p.Asp384Val)
c.994-21251A>T (n.994-21251A>T)
18g.49118766T>CCA402507014DYMc.1889A>G (p.Asp630Gly)
c.1724A>G (p.Asp575Gly)
c.1154A>G (p.Asp385Gly)
c.1721A>G (p.Asp574Gly)
c.1556A>G (p.Asp519Gly)
c.1564-21251A>G (n.1564-21251A>G)
c.1886A>G (p.Asp629Gly)
c.1729-21251A>G (n.1729-21251A>G)
c.1718A>G (p.Asp573Gly)
c.1544A>G (p.Asp515Gly)
c.1561-21251A>G (n.1561-21251A>G)
c.1558-21251A>G (n.1558-21251A>G)
n.2081A>G
c.1883A>G (p.Asp628Gly)
c.1763A>G (p.Asp588Gly)
c.1598A>G (p.Asp533Gly)
c.1541A>G (p.Asp514Gly)
c.1496A>G (p.Asp499Gly)
c.1319A>G (p.Asp440Gly)
c.1151A>G (p.Asp384Gly)
c.994-21251A>G (n.994-21251A>G)
18g.49118766T>GCA402507015DYMc.1889A>C (p.Asp630Ala)
c.1724A>C (p.Asp575Ala)
c.1154A>C (p.Asp385Ala)
c.1721A>C (p.Asp574Ala)
c.1556A>C (p.Asp519Ala)
c.1564-21251A>C (n.1564-21251A>C)
c.1886A>C (p.Asp629Ala)
c.1729-21251A>C (n.1729-21251A>C)
c.1718A>C (p.Asp573Ala)
c.1544A>C (p.Asp515Ala)
c.1561-21251A>C (n.1561-21251A>C)
c.1558-21251A>C (n.1558-21251A>C)
n.2081A>C
c.1883A>C (p.Asp628Ala)
c.1763A>C (p.Asp588Ala)
c.1598A>C (p.Asp533Ala)
c.1541A>C (p.Asp514Ala)
c.1496A>C (p.Asp499Ala)
c.1319A>C (p.Asp440Ala)
c.1151A>C (p.Asp384Ala)
c.994-21251A>C (n.994-21251A>C)
18g.49118767C>ACA402507016DYMc.1888G>T (p.Asp630Tyr)
c.1723G>T (p.Asp575Tyr)
c.1153G>T (p.Asp385Tyr)
c.1720G>T (p.Asp574Tyr)
c.1555G>T (p.Asp519Tyr)
c.1564-21252G>T (n.1564-21252G>T)
c.1885G>T (p.Asp629Tyr)
c.1729-21252G>T (n.1729-21252G>T)
c.1717G>T (p.Asp573Tyr)
c.1543G>T (p.Asp515Tyr)
c.1561-21252G>T (n.1561-21252G>T)
c.1558-21252G>T (n.1558-21252G>T)
n.2080G>T
c.1882G>T (p.Asp628Tyr)
c.1762G>T (p.Asp588Tyr)
c.1597G>T (p.Asp533Tyr)
c.1540G>T (p.Asp514Tyr)
c.1495G>T (p.Asp499Tyr)
c.1318G>T (p.Asp440Tyr)
c.1150G>T (p.Asp384Tyr)
c.994-21252G>T (n.994-21252G>T)
18g.49118767C>GCA402507017DYMc.1888G>C (p.Asp630His)
c.1723G>C (p.Asp575His)
c.1153G>C (p.Asp385His)
c.1720G>C (p.Asp574His)
c.1555G>C (p.Asp519His)
c.1564-21252G>C (n.1564-21252G>C)
c.1885G>C (p.Asp629His)
c.1729-21252G>C (n.1729-21252G>C)
c.1717G>C (p.Asp573His)
c.1543G>C (p.Asp515His)
c.1561-21252G>C (n.1561-21252G>C)
c.1558-21252G>C (n.1558-21252G>C)
n.2080G>C
c.1882G>C (p.Asp628His)
c.1762G>C (p.Asp588His)
c.1597G>C (p.Asp533His)
c.1540G>C (p.Asp514His)
c.1495G>C (p.Asp499His)
c.1318G>C (p.Asp440His)
c.1150G>C (p.Asp384His)
c.994-21252G>C (n.994-21252G>C)
18g.49118767C>TCA402507018DYMc.1888G>A (p.Asp630Asn)
c.1723G>A (p.Asp575Asn)
c.1153G>A (p.Asp385Asn)
c.1720G>A (p.Asp574Asn)
c.1555G>A (p.Asp519Asn)
c.1564-21252G>A (n.1564-21252G>A)
c.1885G>A (p.Asp629Asn)
c.1729-21252G>A (n.1729-21252G>A)
c.1717G>A (p.Asp573Asn)
c.1543G>A (p.Asp515Asn)
c.1561-21252G>A (n.1561-21252G>A)
c.1558-21252G>A (n.1558-21252G>A)
n.2080G>A
c.1882G>A (p.Asp628Asn)
c.1762G>A (p.Asp588Asn)
c.1597G>A (p.Asp533Asn)
c.1540G>A (p.Asp514Asn)
c.1495G>A (p.Asp499Asn)
c.1318G>A (p.Asp440Asn)
c.1150G>A (p.Asp384Asn)
c.994-21252G>A (n.994-21252G>A)
18g.49118768C>ACA402507019DYMc.1887G>T (p.Gln629His)
c.1722G>T (p.Gln574His)
c.1152G>T (p.Gln384His)
c.1719G>T (p.Gln573His)
c.1554G>T (p.Gln518His)
c.1564-21253G>T (n.1564-21253G>T)
c.1884G>T (p.Gln628His)
c.1729-21253G>T (n.1729-21253G>T)
c.1716G>T (p.Gln572His)
c.1542G>T (p.Gln514His)
c.1561-21253G>T (n.1561-21253G>T)
c.1558-21253G>T (n.1558-21253G>T)
n.2079G>T
c.1881G>T (p.Gln627His)
c.1761G>T (p.Gln587His)
c.1596G>T (p.Gln532His)
c.1539G>T (p.Gln513His)
c.1494G>T (p.Gln498His)
c.1317G>T (p.Gln439His)
c.1149G>T (p.Gln383His)
c.994-21253G>T (n.994-21253G>T)
18g.49118768C=CA2302066380DYMc.1887G= (p.Gln629=)
c.1722G= (p.Gln574=)
c.1152G= (p.Gln384=)
c.1719G= (p.Gln573=)
c.1554G= (p.Gln518=)
c.1564-21253G= (n.1564-21253G=)
c.1884G= (p.Gln628=)
c.1729-21253G= (n.1729-21253G=)
c.1716G= (p.Gln572=)
c.1542G= (p.Gln514=)
c.1561-21253G= (n.1561-21253G=)
c.1558-21253G= (n.1558-21253G=)
n.2079G=
c.1881G= (p.Gln627=)
c.1761G= (p.Gln587=)
c.1596G= (p.Gln532=)
c.1539G= (p.Gln513=)
c.1494G= (p.Gln498=)
c.1317G= (p.Gln439=)
c.1149G= (p.Gln383=)
c.994-21253G= (n.994-21253G=)
18g.49118768C>GCA402507020DYMc.1887G>C (p.Gln629His)
c.1722G>C (p.Gln574His)
c.1152G>C (p.Gln384His)
c.1719G>C (p.Gln573His)
c.1554G>C (p.Gln518His)
c.1564-21253G>C (n.1564-21253G>C)
c.1884G>C (p.Gln628His)
c.1729-21253G>C (n.1729-21253G>C)
c.1716G>C (p.Gln572His)
c.1542G>C (p.Gln514His)
c.1561-21253G>C (n.1561-21253G>C)
c.1558-21253G>C (n.1558-21253G>C)
n.2079G>C
c.1881G>C (p.Gln627His)
c.1761G>C (p.Gln587His)
c.1596G>C (p.Gln532His)
c.1539G>C (p.Gln513His)
c.1494G>C (p.Gln498His)
c.1317G>C (p.Gln439His)
c.1149G>C (p.Gln383His)
c.994-21253G>C (n.994-21253G>C)
 dbSNP
18g.49118768C>TCA503936271DYMc.1887G>A (p.Gln629=)
c.1722G>A (p.Gln574=)
c.1152G>A (p.Gln384=)
c.1719G>A (p.Gln573=)
c.1554G>A (p.Gln518=)
c.1564-21253G>A (n.1564-21253G>A)
c.1884G>A (p.Gln628=)
c.1729-21253G>A (n.1729-21253G>A)
c.1716G>A (p.Gln572=)
c.1542G>A (p.Gln514=)
c.1561-21253G>A (n.1561-21253G>A)
c.1558-21253G>A (n.1558-21253G>A)
n.2079G>A
c.1881G>A (p.Gln627=)
c.1761G>A (p.Gln587=)
c.1596G>A (p.Gln532=)
c.1539G>A (p.Gln513=)
c.1494G>A (p.Gln498=)
c.1317G>A (p.Gln439=)
c.1149G>A (p.Gln383=)
c.994-21253G>A (n.994-21253G>A)
 dbSNP gnomAD v3 gnomAD v4
18g.49118769T>ACA402507022DYMc.1886A>T (p.Gln629Leu)
c.1721A>T (p.Gln574Leu)
c.1151A>T (p.Gln384Leu)
c.1718A>T (p.Gln573Leu)
c.1553A>T (p.Gln518Leu)
c.1564-21254A>T (n.1564-21254A>T)
c.1883A>T (p.Gln628Leu)
c.1729-21254A>T (n.1729-21254A>T)
c.1715A>T (p.Gln572Leu)
c.1541A>T (p.Gln514Leu)
c.1561-21254A>T (n.1561-21254A>T)
c.1558-21254A>T (n.1558-21254A>T)
n.2078A>T
c.1880A>T (p.Gln627Leu)
c.1760A>T (p.Gln587Leu)
c.1595A>T (p.Gln532Leu)
c.1538A>T (p.Gln513Leu)
c.1493A>T (p.Gln498Leu)
c.1316A>T (p.Gln439Leu)
c.1148A>T (p.Gln383Leu)
c.994-21254A>T (n.994-21254A>T)
18g.49118769T>CCA300360636DYMc.1886A>G (p.Gln629Arg)
c.1721A>G (p.Gln574Arg)
c.1151A>G (p.Gln384Arg)
c.1718A>G (p.Gln573Arg)
c.1553A>G (p.Gln518Arg)
c.1564-21254A>G (n.1564-21254A>G)
c.1883A>G (p.Gln628Arg)
c.1729-21254A>G (n.1729-21254A>G)
c.1715A>G (p.Gln572Arg)
c.1541A>G (p.Gln514Arg)
c.1561-21254A>G (n.1561-21254A>G)
c.1558-21254A>G (n.1558-21254A>G)
n.2078A>G
c.1880A>G (p.Gln627Arg)
c.1760A>G (p.Gln587Arg)
c.1595A>G (p.Gln532Arg)
c.1538A>G (p.Gln513Arg)
c.1493A>G (p.Gln498Arg)
c.1316A>G (p.Gln439Arg)
c.1148A>G (p.Gln383Arg)
c.994-21254A>G (n.994-21254A>G)
 dbSNP
18g.49118769T>GCA402507021DYMc.1886A>C (p.Gln629Pro)
c.1721A>C (p.Gln574Pro)
c.1151A>C (p.Gln384Pro)
c.1718A>C (p.Gln573Pro)
c.1553A>C (p.Gln518Pro)
c.1564-21254A>C (n.1564-21254A>C)
c.1883A>C (p.Gln628Pro)
c.1729-21254A>C (n.1729-21254A>C)
c.1715A>C (p.Gln572Pro)
c.1541A>C (p.Gln514Pro)
c.1561-21254A>C (n.1561-21254A>C)
c.1558-21254A>C (n.1558-21254A>C)
n.2078A>C
c.1880A>C (p.Gln627Pro)
c.1760A>C (p.Gln587Pro)
c.1595A>C (p.Gln532Pro)
c.1538A>C (p.Gln513Pro)
c.1493A>C (p.Gln498Pro)
c.1316A>C (p.Gln439Pro)
c.1148A>C (p.Gln383Pro)
c.994-21254A>C (n.994-21254A>C)
18g.49118769T=CA2302066381DYMc.1886A= (p.Gln629=)
c.1721A= (p.Gln574=)
c.1151A= (p.Gln384=)
c.1718A= (p.Gln573=)
c.1553A= (p.Gln518=)
c.1564-21254A= (n.1564-21254A=)
c.1883A= (p.Gln628=)
c.1729-21254A= (n.1729-21254A=)
c.1715A= (p.Gln572=)
c.1541A= (p.Gln514=)
c.1561-21254A= (n.1561-21254A=)
c.1558-21254A= (n.1558-21254A=)
n.2078A=
c.1880A= (p.Gln627=)
c.1760A= (p.Gln587=)
c.1595A= (p.Gln532=)
c.1538A= (p.Gln513=)
c.1493A= (p.Gln498=)
c.1316A= (p.Gln439=)
c.1148A= (p.Gln383=)
c.994-21254A= (n.994-21254A=)
18g.49118770G>ACA402507023DYMc.1885C>T (p.Gln629Ter)
c.1720C>T (p.Gln574Ter)
c.1150C>T (p.Gln384Ter)
c.1717C>T (p.Gln573Ter)
c.1552C>T (p.Gln518Ter)
c.1564-21255C>T (n.1564-21255C>T)
c.1882C>T (p.Gln628Ter)
c.1729-21255C>T (n.1729-21255C>T)
c.1714C>T (p.Gln572Ter)
c.1540C>T (p.Gln514Ter)
c.1561-21255C>T (n.1561-21255C>T)
c.1558-21255C>T (n.1558-21255C>T)
n.2077C>T
c.1879C>T (p.Gln627Ter)
c.1759C>T (p.Gln587Ter)
c.1594C>T (p.Gln532Ter)
c.1537C>T (p.Gln513Ter)
c.1492C>T (p.Gln498Ter)
c.1315C>T (p.Gln439Ter)
c.1147C>T (p.Gln383Ter)
c.994-21255C>T (n.994-21255C>T)
18g.49118770G>CCA402507024DYMc.1885C>G (p.Gln629Glu)
c.1720C>G (p.Gln574Glu)
c.1150C>G (p.Gln384Glu)
c.1717C>G (p.Gln573Glu)
c.1552C>G (p.Gln518Glu)
c.1564-21255C>G (n.1564-21255C>G)
c.1882C>G (p.Gln628Glu)
c.1729-21255C>G (n.1729-21255C>G)
c.1714C>G (p.Gln572Glu)
c.1540C>G (p.Gln514Glu)
c.1561-21255C>G (n.1561-21255C>G)
c.1558-21255C>G (n.1558-21255C>G)
n.2077C>G
c.1879C>G (p.Gln627Glu)
c.1759C>G (p.Gln587Glu)
c.1594C>G (p.Gln532Glu)
c.1537C>G (p.Gln513Glu)
c.1492C>G (p.Gln498Glu)
c.1315C>G (p.Gln439Glu)
c.1147C>G (p.Gln383Glu)
c.994-21255C>G (n.994-21255C>G)
18g.49118770G>TCA402507025DYMc.1885C>A (p.Gln629Lys)
c.1720C>A (p.Gln574Lys)
c.1150C>A (p.Gln384Lys)
c.1717C>A (p.Gln573Lys)
c.1552C>A (p.Gln518Lys)
c.1564-21255C>A (n.1564-21255C>A)
c.1882C>A (p.Gln628Lys)
c.1729-21255C>A (n.1729-21255C>A)
c.1714C>A (p.Gln572Lys)
c.1540C>A (p.Gln514Lys)
c.1561-21255C>A (n.1561-21255C>A)
c.1558-21255C>A (n.1558-21255C>A)
n.2077C>A
c.1879C>A (p.Gln627Lys)
c.1759C>A (p.Gln587Lys)
c.1594C>A (p.Gln532Lys)
c.1537C>A (p.Gln513Lys)
c.1492C>A (p.Gln498Lys)
c.1315C>A (p.Gln439Lys)
c.1147C>A (p.Gln383Lys)
c.994-21255C>A (n.994-21255C>A)
18g.49118771A=CA2302066382DYMc.1884T= (p.Phe628=)
c.1719T= (p.Phe573=)
c.1149T= (p.Phe383=)
c.1716T= (p.Phe572=)
c.1551T= (p.Phe517=)
c.1564-21256T= (n.1564-21256T=)
c.1881T= (p.Phe627=)
c.1729-21256T= (n.1729-21256T=)
c.1713T= (p.Phe571=)
c.1539T= (p.Phe513=)
c.1561-21256T= (n.1561-21256T=)
c.1558-21256T= (n.1558-21256T=)
n.2076T=
c.1878T= (p.Phe626=)
c.1758T= (p.Phe586=)
c.1593T= (p.Phe531=)
c.1536T= (p.Phe512=)
c.1491T= (p.Phe497=)
c.1314T= (p.Phe438=)
c.1146T= (p.Phe382=)
c.994-21256T= (n.994-21256T=)
18g.49118771A>CCA8958000DYMc.1884T>G (p.Phe628Leu)
c.1719T>G (p.Phe573Leu)
c.1149T>G (p.Phe383Leu)
c.1716T>G (p.Phe572Leu)
c.1551T>G (p.Phe517Leu)
c.1564-21256T>G (n.1564-21256T>G)
c.1881T>G (p.Phe627Leu)
c.1729-21256T>G (n.1729-21256T>G)
c.1713T>G (p.Phe571Leu)
c.1539T>G (p.Phe513Leu)
c.1561-21256T>G (n.1561-21256T>G)
c.1558-21256T>G (n.1558-21256T>G)
n.2076T>G
c.1878T>G (p.Phe626Leu)
c.1758T>G (p.Phe586Leu)
c.1593T>G (p.Phe531Leu)
c.1536T>G (p.Phe512Leu)
c.1491T>G (p.Phe497Leu)
c.1314T>G (p.Phe438Leu)
c.1146T>G (p.Phe382Leu)
c.994-21256T>G (n.994-21256T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.49118771A>GCA503936277DYMc.1884T>C (p.Phe628=)
c.1719T>C (p.Phe573=)
c.1149T>C (p.Phe383=)
c.1716T>C (p.Phe572=)
c.1551T>C (p.Phe517=)
c.1564-21256T>C (n.1564-21256T>C)
c.1881T>C (p.Phe627=)
c.1729-21256T>C (n.1729-21256T>C)
c.1713T>C (p.Phe571=)
c.1539T>C (p.Phe513=)
c.1561-21256T>C (n.1561-21256T>C)
c.1558-21256T>C (n.1558-21256T>C)
n.2076T>C
c.1878T>C (p.Phe626=)
c.1758T>C (p.Phe586=)
c.1593T>C (p.Phe531=)
c.1536T>C (p.Phe512=)
c.1491T>C (p.Phe497=)
c.1314T>C (p.Phe438=)
c.1146T>C (p.Phe382=)
c.994-21256T>C (n.994-21256T>C)
18g.49118771A>TCA402507026DYMc.1884T>A (p.Phe628Leu)
c.1719T>A (p.Phe573Leu)
c.1149T>A (p.Phe383Leu)
c.1716T>A (p.Phe572Leu)
c.1551T>A (p.Phe517Leu)
c.1564-21256T>A (n.1564-21256T>A)
c.1881T>A (p.Phe627Leu)
c.1729-21256T>A (n.1729-21256T>A)
c.1713T>A (p.Phe571Leu)
c.1539T>A (p.Phe513Leu)
c.1561-21256T>A (n.1561-21256T>A)
c.1558-21256T>A (n.1558-21256T>A)
n.2076T>A
c.1878T>A (p.Phe626Leu)
c.1758T>A (p.Phe586Leu)
c.1593T>A (p.Phe531Leu)
c.1536T>A (p.Phe512Leu)
c.1491T>A (p.Phe497Leu)
c.1314T>A (p.Phe438Leu)
c.1146T>A (p.Phe382Leu)
c.994-21256T>A (n.994-21256T>A)
18g.49118772A>CCA402507027DYMc.1883T>G (p.Phe628Cys)
c.1718T>G (p.Phe573Cys)
c.1148T>G (p.Phe383Cys)
c.1715T>G (p.Phe572Cys)
c.1550T>G (p.Phe517Cys)
c.1564-21257T>G (n.1564-21257T>G)
c.1880T>G (p.Phe627Cys)
c.1729-21257T>G (n.1729-21257T>G)
c.1712T>G (p.Phe571Cys)
c.1538T>G (p.Phe513Cys)
c.1561-21257T>G (n.1561-21257T>G)
c.1558-21257T>G (n.1558-21257T>G)
n.2075T>G
c.1877T>G (p.Phe626Cys)
c.1757T>G (p.Phe586Cys)
c.1592T>G (p.Phe531Cys)
c.1535T>G (p.Phe512Cys)
c.1490T>G (p.Phe497Cys)
c.1313T>G (p.Phe438Cys)
c.1145T>G (p.Phe382Cys)
c.994-21257T>G (n.994-21257T>G)
18g.49118772A>GCA402507028DYMc.1883T>C (p.Phe628Ser)
c.1718T>C (p.Phe573Ser)
c.1148T>C (p.Phe383Ser)
c.1715T>C (p.Phe572Ser)
c.1550T>C (p.Phe517Ser)
c.1564-21257T>C (n.1564-21257T>C)
c.1880T>C (p.Phe627Ser)
c.1729-21257T>C (n.1729-21257T>C)
c.1712T>C (p.Phe571Ser)
c.1538T>C (p.Phe513Ser)
c.1561-21257T>C (n.1561-21257T>C)
c.1558-21257T>C (n.1558-21257T>C)
n.2075T>C
c.1877T>C (p.Phe626Ser)
c.1757T>C (p.Phe586Ser)
c.1592T>C (p.Phe531Ser)
c.1535T>C (p.Phe512Ser)
c.1490T>C (p.Phe497Ser)
c.1313T>C (p.Phe438Ser)
c.1145T>C (p.Phe382Ser)
c.994-21257T>C (n.994-21257T>C)
18g.49118772A>TCA402507029DYMc.1883T>A (p.Phe628Tyr)
c.1718T>A (p.Phe573Tyr)
c.1148T>A (p.Phe383Tyr)
c.1715T>A (p.Phe572Tyr)
c.1550T>A (p.Phe517Tyr)
c.1564-21257T>A (n.1564-21257T>A)
c.1880T>A (p.Phe627Tyr)
c.1729-21257T>A (n.1729-21257T>A)
c.1712T>A (p.Phe571Tyr)
c.1538T>A (p.Phe513Tyr)
c.1561-21257T>A (n.1561-21257T>A)
c.1558-21257T>A (n.1558-21257T>A)
n.2075T>A
c.1877T>A (p.Phe626Tyr)
c.1757T>A (p.Phe586Tyr)
c.1592T>A (p.Phe531Tyr)
c.1535T>A (p.Phe512Tyr)
c.1490T>A (p.Phe497Tyr)
c.1313T>A (p.Phe438Tyr)
c.1145T>A (p.Phe382Tyr)
c.994-21257T>A (n.994-21257T>A)
18g.49118773A=CA2302066383DYMc.1882T= (p.Phe628=)
c.1717T= (p.Phe573=)
c.1147T= (p.Phe383=)
c.1714T= (p.Phe572=)
c.1549T= (p.Phe517=)
c.1564-21258T= (n.1564-21258T=)
c.1879T= (p.Phe627=)
c.1729-21258T= (n.1729-21258T=)
c.1711T= (p.Phe571=)
c.1537T= (p.Phe513=)
c.1561-21258T= (n.1561-21258T=)
c.1558-21258T= (n.1558-21258T=)
n.2074T=
c.1876T= (p.Phe626=)
c.1756T= (p.Phe586=)
c.1591T= (p.Phe531=)
c.1534T= (p.Phe512=)
c.1489T= (p.Phe497=)
c.1312T= (p.Phe438=)
c.1144T= (p.Phe382=)
c.994-21258T= (n.994-21258T=)
18g.49118773A>CCA402507030DYMc.1882T>G (p.Phe628Val)
c.1717T>G (p.Phe573Val)
c.1147T>G (p.Phe383Val)
c.1714T>G (p.Phe572Val)
c.1549T>G (p.Phe517Val)
c.1564-21258T>G (n.1564-21258T>G)
c.1879T>G (p.Phe627Val)
c.1729-21258T>G (n.1729-21258T>G)
c.1711T>G (p.Phe571Val)
c.1537T>G (p.Phe513Val)
c.1561-21258T>G (n.1561-21258T>G)
c.1558-21258T>G (n.1558-21258T>G)
n.2074T>G
c.1876T>G (p.Phe626Val)
c.1756T>G (p.Phe586Val)
c.1591T>G (p.Phe531Val)
c.1534T>G (p.Phe512Val)
c.1489T>G (p.Phe497Val)
c.1312T>G (p.Phe438Val)
c.1144T>G (p.Phe382Val)
c.994-21258T>G (n.994-21258T>G)
18g.49118773A>GCA402507031DYMc.1882T>C (p.Phe628Leu)
c.1717T>C (p.Phe573Leu)
c.1147T>C (p.Phe383Leu)
c.1714T>C (p.Phe572Leu)
c.1549T>C (p.Phe517Leu)
c.1564-21258T>C (n.1564-21258T>C)
c.1879T>C (p.Phe627Leu)
c.1729-21258T>C (n.1729-21258T>C)
c.1711T>C (p.Phe571Leu)
c.1537T>C (p.Phe513Leu)
c.1561-21258T>C (n.1561-21258T>C)
c.1558-21258T>C (n.1558-21258T>C)
n.2074T>C
c.1876T>C (p.Phe626Leu)
c.1756T>C (p.Phe586Leu)
c.1591T>C (p.Phe531Leu)
c.1534T>C (p.Phe512Leu)
c.1489T>C (p.Phe497Leu)
c.1312T>C (p.Phe438Leu)
c.1144T>C (p.Phe382Leu)
c.994-21258T>C (n.994-21258T>C)
18g.49118773A>TCA402507032DYMc.1882T>A (p.Phe628Ile)
c.1717T>A (p.Phe573Ile)
c.1147T>A (p.Phe383Ile)
c.1714T>A (p.Phe572Ile)
c.1549T>A (p.Phe517Ile)
c.1564-21258T>A (n.1564-21258T>A)
c.1879T>A (p.Phe627Ile)
c.1729-21258T>A (n.1729-21258T>A)
c.1711T>A (p.Phe571Ile)
c.1537T>A (p.Phe513Ile)
c.1561-21258T>A (n.1561-21258T>A)
c.1558-21258T>A (n.1558-21258T>A)
n.2074T>A
c.1876T>A (p.Phe626Ile)
c.1756T>A (p.Phe586Ile)
c.1591T>A (p.Phe531Ile)
c.1534T>A (p.Phe512Ile)
c.1489T>A (p.Phe497Ile)
c.1312T>A (p.Phe438Ile)
c.1144T>A (p.Phe382Ile)
c.994-21258T>A (n.994-21258T>A)
 dbSNP
18g.49118774T>ACA503936280DYMc.1881A>T (p.Ser627=)
c.1716A>T (p.Ser572=)
c.1146A>T (p.Ser382=)
c.1713A>T (p.Ser571=)
c.1548A>T (p.Ser516=)
c.1564-21259A>T (n.1564-21259A>T)
c.1878A>T (p.Ser626=)
c.1729-21259A>T (n.1729-21259A>T)
c.1710A>T (p.Ser570=)
c.1536A>T (p.Ser512=)
c.1561-21259A>T (n.1561-21259A>T)
c.1558-21259A>T (n.1558-21259A>T)
n.2073A>T
c.1875A>T (p.Ser625=)
c.1755A>T (p.Ser585=)
c.1590A>T (p.Ser530=)
c.1533A>T (p.Ser511=)
c.1488A>T (p.Ser496=)
c.1311A>T (p.Ser437=)
c.1143A>T (p.Ser381=)
c.994-21259A>T (n.994-21259A>T)
18g.49118774T>CCA8958001DYMc.1881A>G (p.Ser627=)
c.1716A>G (p.Ser572=)
c.1146A>G (p.Ser382=)
c.1713A>G (p.Ser571=)
c.1548A>G (p.Ser516=)
c.1564-21259A>G (n.1564-21259A>G)
c.1878A>G (p.Ser626=)
c.1729-21259A>G (n.1729-21259A>G)
c.1710A>G (p.Ser570=)
c.1536A>G (p.Ser512=)
c.1561-21259A>G (n.1561-21259A>G)
c.1558-21259A>G (n.1558-21259A>G)
n.2073A>G
c.1875A>G (p.Ser625=)
c.1755A>G (p.Ser585=)
c.1590A>G (p.Ser530=)
c.1533A>G (p.Ser511=)
c.1488A>G (p.Ser496=)
c.1311A>G (p.Ser437=)
c.1143A>G (p.Ser381=)
c.994-21259A>G (n.994-21259A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.49118774T>GCA503936281DYMc.1881A>C (p.Ser627=)
c.1716A>C (p.Ser572=)
c.1146A>C (p.Ser382=)
c.1713A>C (p.Ser571=)
c.1548A>C (p.Ser516=)
c.1564-21259A>C (n.1564-21259A>C)
c.1878A>C (p.Ser626=)
c.1729-21259A>C (n.1729-21259A>C)
c.1710A>C (p.Ser570=)
c.1536A>C (p.Ser512=)
c.1561-21259A>C (n.1561-21259A>C)
c.1558-21259A>C (n.1558-21259A>C)
n.2073A>C
c.1875A>C (p.Ser625=)
c.1755A>C (p.Ser585=)
c.1590A>C (p.Ser530=)
c.1533A>C (p.Ser511=)
c.1488A>C (p.Ser496=)
c.1311A>C (p.Ser437=)
c.1143A>C (p.Ser381=)
c.994-21259A>C (n.994-21259A>C)
18g.49118774T=CA2302066384DYMc.1881A= (p.Ser627=)
c.1716A= (p.Ser572=)
c.1146A= (p.Ser382=)
c.1713A= (p.Ser571=)
c.1548A= (p.Ser516=)
c.1564-21259A= (n.1564-21259A=)
c.1878A= (p.Ser626=)
c.1729-21259A= (n.1729-21259A=)
c.1710A= (p.Ser570=)
c.1536A= (p.Ser512=)
c.1561-21259A= (n.1561-21259A=)
c.1558-21259A= (n.1558-21259A=)
n.2073A=
c.1875A= (p.Ser625=)
c.1755A= (p.Ser585=)
c.1590A= (p.Ser530=)
c.1533A= (p.Ser511=)
c.1488A= (p.Ser496=)
c.1311A= (p.Ser437=)
c.1143A= (p.Ser381=)
c.994-21259A= (n.994-21259A=)
18g.49118775G>ACA402507034DYMc.1880C>T (p.Ser627Leu)
c.1715C>T (p.Ser572Leu)
c.1145C>T (p.Ser382Leu)
c.1712C>T (p.Ser571Leu)
c.1547C>T (p.Ser516Leu)
c.1564-21260C>T (n.1564-21260C>T)
c.1877C>T (p.Ser626Leu)
c.1729-21260C>T (n.1729-21260C>T)
c.1709C>T (p.Ser570Leu)
c.1535C>T (p.Ser512Leu)
c.1561-21260C>T (n.1561-21260C>T)
c.1558-21260C>T (n.1558-21260C>T)
n.2072C>T
c.1874C>T (p.Ser625Leu)
c.1754C>T (p.Ser585Leu)
c.1589C>T (p.Ser530Leu)
c.1532C>T (p.Ser511Leu)
c.1487C>T (p.Ser496Leu)
c.1310C>T (p.Ser437Leu)
c.1142C>T (p.Ser381Leu)
c.994-21260C>T (n.994-21260C>T)
 gnomAD v4 COSMIC
18g.49118775G>CCA402507035DYMc.1880C>G (p.Ser627Ter)
c.1715C>G (p.Ser572Ter)
c.1145C>G (p.Ser382Ter)
c.1712C>G (p.Ser571Ter)
c.1547C>G (p.Ser516Ter)
c.1564-21260C>G (n.1564-21260C>G)
c.1877C>G (p.Ser626Ter)
c.1729-21260C>G (n.1729-21260C>G)
c.1709C>G (p.Ser570Ter)
c.1535C>G (p.Ser512Ter)
c.1561-21260C>G (n.1561-21260C>G)
c.1558-21260C>G (n.1558-21260C>G)
n.2072C>G
c.1874C>G (p.Ser625Ter)
c.1754C>G (p.Ser585Ter)
c.1589C>G (p.Ser530Ter)
c.1532C>G (p.Ser511Ter)
c.1487C>G (p.Ser496Ter)
c.1310C>G (p.Ser437Ter)
c.1142C>G (p.Ser381Ter)
c.994-21260C>G (n.994-21260C>G)
18g.49118775G=CA2302066385DYMc.1880C= (p.Ser627=)
c.1715C= (p.Ser572=)
c.1145C= (p.Ser382=)
c.1712C= (p.Ser571=)
c.1547C= (p.Ser516=)
c.1564-21260C= (n.1564-21260C=)
c.1877C= (p.Ser626=)
c.1729-21260C= (n.1729-21260C=)
c.1709C= (p.Ser570=)
c.1535C= (p.Ser512=)
c.1561-21260C= (n.1561-21260C=)
c.1558-21260C= (n.1558-21260C=)
n.2072C=
c.1874C= (p.Ser625=)
c.1754C= (p.Ser585=)
c.1589C= (p.Ser530=)
c.1532C= (p.Ser511=)
c.1487C= (p.Ser496=)
c.1310C= (p.Ser437=)
c.1142C= (p.Ser381=)
c.994-21260C= (n.994-21260C=)
18g.49118775G>TCA402507033DYMc.1880C>A (p.Ser627Ter)
c.1715C>A (p.Ser572Ter)
c.1145C>A (p.Ser382Ter)
c.1712C>A (p.Ser571Ter)
c.1547C>A (p.Ser516Ter)
c.1564-21260C>A (n.1564-21260C>A)
c.1877C>A (p.Ser626Ter)
c.1729-21260C>A (n.1729-21260C>A)
c.1709C>A (p.Ser570Ter)
c.1535C>A (p.Ser512Ter)
c.1561-21260C>A (n.1561-21260C>A)
c.1558-21260C>A (n.1558-21260C>A)
n.2072C>A
c.1874C>A (p.Ser625Ter)
c.1754C>A (p.Ser585Ter)
c.1589C>A (p.Ser530Ter)
c.1532C>A (p.Ser511Ter)
c.1487C>A (p.Ser496Ter)
c.1310C>A (p.Ser437Ter)
c.1142C>A (p.Ser381Ter)
c.994-21260C>A (n.994-21260C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.49118776A>CCA402507036DYMc.1879T>G (p.Ser627Ala)
c.1714T>G (p.Ser572Ala)
c.1144T>G (p.Ser382Ala)
c.1711T>G (p.Ser571Ala)
c.1546T>G (p.Ser516Ala)
c.1564-21261T>G (n.1564-21261T>G)
c.1876T>G (p.Ser626Ala)
c.1729-21261T>G (n.1729-21261T>G)
c.1708T>G (p.Ser570Ala)
c.1534T>G (p.Ser512Ala)
c.1561-21261T>G (n.1561-21261T>G)
c.1558-21261T>G (n.1558-21261T>G)
n.2071T>G
c.1873T>G (p.Ser625Ala)
c.1753T>G (p.Ser585Ala)
c.1588T>G (p.Ser530Ala)
c.1531T>G (p.Ser511Ala)
c.1486T>G (p.Ser496Ala)
c.1309T>G (p.Ser437Ala)
c.1141T>G (p.Ser381Ala)
c.994-21261T>G (n.994-21261T>G)
18g.49118776A>GCA402507037DYMc.1879T>C (p.Ser627Pro)
c.1714T>C (p.Ser572Pro)
c.1144T>C (p.Ser382Pro)
c.1711T>C (p.Ser571Pro)
c.1546T>C (p.Ser516Pro)
c.1564-21261T>C (n.1564-21261T>C)
c.1876T>C (p.Ser626Pro)
c.1729-21261T>C (n.1729-21261T>C)
c.1708T>C (p.Ser570Pro)
c.1534T>C (p.Ser512Pro)
c.1561-21261T>C (n.1561-21261T>C)
c.1558-21261T>C (n.1558-21261T>C)
n.2071T>C
c.1873T>C (p.Ser625Pro)
c.1753T>C (p.Ser585Pro)
c.1588T>C (p.Ser530Pro)
c.1531T>C (p.Ser511Pro)
c.1486T>C (p.Ser496Pro)
c.1309T>C (p.Ser437Pro)
c.1141T>C (p.Ser381Pro)
c.994-21261T>C (n.994-21261T>C)
18g.49118776A>TCA402507038DYMc.1879T>A (p.Ser627Thr)
c.1714T>A (p.Ser572Thr)
c.1144T>A (p.Ser382Thr)
c.1711T>A (p.Ser571Thr)
c.1546T>A (p.Ser516Thr)
c.1564-21261T>A (n.1564-21261T>A)
c.1876T>A (p.Ser626Thr)
c.1729-21261T>A (n.1729-21261T>A)
c.1708T>A (p.Ser570Thr)
c.1534T>A (p.Ser512Thr)
c.1561-21261T>A (n.1561-21261T>A)
c.1558-21261T>A (n.1558-21261T>A)
n.2071T>A
c.1873T>A (p.Ser625Thr)
c.1753T>A (p.Ser585Thr)
c.1588T>A (p.Ser530Thr)
c.1531T>A (p.Ser511Thr)
c.1486T>A (p.Ser496Thr)
c.1309T>A (p.Ser437Thr)
c.1141T>A (p.Ser381Thr)
c.994-21261T>A (n.994-21261T>A)
18g.49118777A>CCA503936285DYMc.1878T>G (p.Pro626=)
c.1713T>G (p.Pro571=)
c.1143T>G (p.Pro381=)
c.1710T>G (p.Pro570=)
c.1545T>G (p.Pro515=)
c.1564-21262T>G (n.1564-21262T>G)
c.1875T>G (p.Pro625=)
c.1729-21262T>G (n.1729-21262T>G)
c.1707T>G (p.Pro569=)
c.1533T>G (p.Pro511=)
c.1561-21262T>G (n.1561-21262T>G)
c.1558-21262T>G (n.1558-21262T>G)
n.2070T>G
c.1872T>G (p.Pro624=)
c.1752T>G (p.Pro584=)
c.1587T>G (p.Pro529=)
c.1530T>G (p.Pro510=)
c.1485T>G (p.Pro495=)
c.1308T>G (p.Pro436=)
c.1140T>G (p.Pro380=)
c.994-21262T>G (n.994-21262T>G)
18g.49118777A>GCA503936286DYMc.1878T>C (p.Pro626=)
c.1713T>C (p.Pro571=)
c.1143T>C (p.Pro381=)
c.1710T>C (p.Pro570=)
c.1545T>C (p.Pro515=)
c.1564-21262T>C (n.1564-21262T>C)
c.1875T>C (p.Pro625=)
c.1729-21262T>C (n.1729-21262T>C)
c.1707T>C (p.Pro569=)
c.1533T>C (p.Pro511=)
c.1561-21262T>C (n.1561-21262T>C)
c.1558-21262T>C (n.1558-21262T>C)
n.2070T>C
c.1872T>C (p.Pro624=)
c.1752T>C (p.Pro584=)
c.1587T>C (p.Pro529=)
c.1530T>C (p.Pro510=)
c.1485T>C (p.Pro495=)
c.1308T>C (p.Pro436=)
c.1140T>C (p.Pro380=)
c.994-21262T>C (n.994-21262T>C)
18g.49118777A>TCA503936287DYMc.1878T>A (p.Pro626=)
c.1713T>A (p.Pro571=)
c.1143T>A (p.Pro381=)
c.1710T>A (p.Pro570=)
c.1545T>A (p.Pro515=)
c.1564-21262T>A (n.1564-21262T>A)
c.1875T>A (p.Pro625=)
c.1729-21262T>A (n.1729-21262T>A)
c.1707T>A (p.Pro569=)
c.1533T>A (p.Pro511=)
c.1561-21262T>A (n.1561-21262T>A)
c.1558-21262T>A (n.1558-21262T>A)
n.2070T>A
c.1872T>A (p.Pro624=)
c.1752T>A (p.Pro584=)
c.1587T>A (p.Pro529=)
c.1530T>A (p.Pro510=)
c.1485T>A (p.Pro495=)
c.1308T>A (p.Pro436=)
c.1140T>A (p.Pro380=)
c.994-21262T>A (n.994-21262T>A)
18g.49118778G>ACA402507039DYMc.1877C>T (p.Pro626Leu)
c.1712C>T (p.Pro571Leu)
c.1142C>T (p.Pro381Leu)
c.1709C>T (p.Pro570Leu)
c.1544C>T (p.Pro515Leu)
c.1564-21263C>T (n.1564-21263C>T)
c.1874C>T (p.Pro625Leu)
c.1729-21263C>T (n.1729-21263C>T)
c.1706C>T (p.Pro569Leu)
c.1532C>T (p.Pro511Leu)
c.1561-21263C>T (n.1561-21263C>T)
c.1558-21263C>T (n.1558-21263C>T)
n.2069C>T
c.1871C>T (p.Pro624Leu)
c.1751C>T (p.Pro584Leu)
c.1586C>T (p.Pro529Leu)
c.1529C>T (p.Pro510Leu)
c.1484C>T (p.Pro495Leu)
c.1307C>T (p.Pro436Leu)
c.1139C>T (p.Pro380Leu)
c.994-21263C>T (n.994-21263C>T)
18g.49118778G>CCA402507040DYMc.1877C>G (p.Pro626Arg)
c.1712C>G (p.Pro571Arg)
c.1142C>G (p.Pro381Arg)
c.1709C>G (p.Pro570Arg)
c.1544C>G (p.Pro515Arg)
c.1564-21263C>G (n.1564-21263C>G)
c.1874C>G (p.Pro625Arg)
c.1729-21263C>G (n.1729-21263C>G)
c.1706C>G (p.Pro569Arg)
c.1532C>G (p.Pro511Arg)
c.1561-21263C>G (n.1561-21263C>G)
c.1558-21263C>G (n.1558-21263C>G)
n.2069C>G
c.1871C>G (p.Pro624Arg)
c.1751C>G (p.Pro584Arg)
c.1586C>G (p.Pro529Arg)
c.1529C>G (p.Pro510Arg)
c.1484C>G (p.Pro495Arg)
c.1307C>G (p.Pro436Arg)
c.1139C>G (p.Pro380Arg)
c.994-21263C>G (n.994-21263C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.49118778G=CA2302066386DYMc.1877C= (p.Pro626=)
c.1712C= (p.Pro571=)
c.1142C= (p.Pro381=)
c.1709C= (p.Pro570=)
c.1544C= (p.Pro515=)
c.1564-21263C= (n.1564-21263C=)
c.1874C= (p.Pro625=)
c.1729-21263C= (n.1729-21263C=)
c.1706C= (p.Pro569=)
c.1532C= (p.Pro511=)
c.1561-21263C= (n.1561-21263C=)
c.1558-21263C= (n.1558-21263C=)
n.2069C=
c.1871C= (p.Pro624=)
c.1751C= (p.Pro584=)
c.1586C= (p.Pro529=)
c.1529C= (p.Pro510=)
c.1484C= (p.Pro495=)
c.1307C= (p.Pro436=)
c.1139C= (p.Pro380=)
c.994-21263C= (n.994-21263C=)
18g.49118778G>TCA402507041DYMc.1877C>A (p.Pro626His)
c.1712C>A (p.Pro571His)
c.1142C>A (p.Pro381His)
c.1709C>A (p.Pro570His)
c.1544C>A (p.Pro515His)
c.1564-21263C>A (n.1564-21263C>A)
c.1874C>A (p.Pro625His)
c.1729-21263C>A (n.1729-21263C>A)
c.1706C>A (p.Pro569His)
c.1532C>A (p.Pro511His)
c.1561-21263C>A (n.1561-21263C>A)
c.1558-21263C>A (n.1558-21263C>A)
n.2069C>A
c.1871C>A (p.Pro624His)
c.1751C>A (p.Pro584His)
c.1586C>A (p.Pro529His)
c.1529C>A (p.Pro510His)
c.1484C>A (p.Pro495His)
c.1307C>A (p.Pro436His)
c.1139C>A (p.Pro380His)
c.994-21263C>A (n.994-21263C>A)
18g.49118779G>ACA402507044DYMc.1876C>T (p.Pro626Ser)
c.1711C>T (p.Pro571Ser)
c.1141C>T (p.Pro381Ser)
c.1708C>T (p.Pro570Ser)
c.1543C>T (p.Pro515Ser)
c.1564-21264C>T (n.1564-21264C>T)
c.1873C>T (p.Pro625Ser)
c.1729-21264C>T (n.1729-21264C>T)
c.1705C>T (p.Pro569Ser)
c.1531C>T (p.Pro511Ser)
c.1561-21264C>T (n.1561-21264C>T)
c.1558-21264C>T (n.1558-21264C>T)
n.2068C>T
c.1870C>T (p.Pro624Ser)
c.1750C>T (p.Pro584Ser)
c.1585C>T (p.Pro529Ser)
c.1528C>T (p.Pro510Ser)
c.1483C>T (p.Pro495Ser)
c.1306C>T (p.Pro436Ser)
c.1138C>T (p.Pro380Ser)
c.994-21264C>T (n.994-21264C>T)
18g.49118779G>CCA402507042DYMc.1876C>G (p.Pro626Ala)
c.1711C>G (p.Pro571Ala)
c.1141C>G (p.Pro381Ala)
c.1708C>G (p.Pro570Ala)
c.1543C>G (p.Pro515Ala)
c.1564-21264C>G (n.1564-21264C>G)
c.1873C>G (p.Pro625Ala)
c.1729-21264C>G (n.1729-21264C>G)
c.1705C>G (p.Pro569Ala)
c.1531C>G (p.Pro511Ala)
c.1561-21264C>G (n.1561-21264C>G)
c.1558-21264C>G (n.1558-21264C>G)
n.2068C>G
c.1870C>G (p.Pro624Ala)
c.1750C>G (p.Pro584Ala)
c.1585C>G (p.Pro529Ala)
c.1528C>G (p.Pro510Ala)
c.1483C>G (p.Pro495Ala)
c.1306C>G (p.Pro436Ala)
c.1138C>G (p.Pro380Ala)
c.994-21264C>G (n.994-21264C>G)
18g.49118779G>TCA402507043DYMc.1876C>A (p.Pro626Thr)
c.1711C>A (p.Pro571Thr)
c.1141C>A (p.Pro381Thr)
c.1708C>A (p.Pro570Thr)
c.1543C>A (p.Pro515Thr)
c.1564-21264C>A (n.1564-21264C>A)
c.1873C>A (p.Pro625Thr)
c.1729-21264C>A (n.1729-21264C>A)
c.1705C>A (p.Pro569Thr)
c.1531C>A (p.Pro511Thr)
c.1561-21264C>A (n.1561-21264C>A)
c.1558-21264C>A (n.1558-21264C>A)
n.2068C>A
c.1870C>A (p.Pro624Thr)
c.1750C>A (p.Pro584Thr)
c.1585C>A (p.Pro529Thr)
c.1528C>A (p.Pro510Thr)
c.1483C>A (p.Pro495Thr)
c.1306C>A (p.Pro436Thr)
c.1138C>A (p.Pro380Thr)
c.994-21264C>A (n.994-21264C>A)
18g.49118780A=CA2302066387DYMc.1875T= (p.His625=)
c.1710T= (p.His570=)
c.1140T= (p.His380=)
c.1707T= (p.His569=)
c.1542T= (p.His514=)
c.1564-21265T= (n.1564-21265T=)
c.1872T= (p.His624=)
c.1729-21265T= (n.1729-21265T=)
c.1704T= (p.His568=)
c.1530T= (p.His510=)
c.1561-21265T= (n.1561-21265T=)
c.1558-21265T= (n.1558-21265T=)
n.2067T=
c.1869T= (p.His623=)
c.1749T= (p.His583=)
c.1584T= (p.His528=)
c.1527T= (p.His509=)
c.1482T= (p.His494=)
c.1305T= (p.His435=)
c.1137T= (p.His379=)
c.994-21265T= (n.994-21265T=)
18g.49118780A>CCA402507045DYMc.1875T>G (p.His625Gln)
c.1710T>G (p.His570Gln)
c.1140T>G (p.His380Gln)
c.1707T>G (p.His569Gln)
c.1542T>G (p.His514Gln)
c.1564-21265T>G (n.1564-21265T>G)
c.1872T>G (p.His624Gln)
c.1729-21265T>G (n.1729-21265T>G)
c.1704T>G (p.His568Gln)
c.1530T>G (p.His510Gln)
c.1561-21265T>G (n.1561-21265T>G)
c.1558-21265T>G (n.1558-21265T>G)
n.2067T>G
c.1869T>G (p.His623Gln)
c.1749T>G (p.His583Gln)
c.1584T>G (p.His528Gln)
c.1527T>G (p.His509Gln)
c.1482T>G (p.His494Gln)
c.1305T>G (p.His435Gln)
c.1137T>G (p.His379Gln)
c.994-21265T>G (n.994-21265T>G)
18g.49118780A>GCA503936291DYMc.1875T>C (p.His625=)
c.1710T>C (p.His570=)
c.1140T>C (p.His380=)
c.1707T>C (p.His569=)
c.1542T>C (p.His514=)
c.1564-21265T>C (n.1564-21265T>C)
c.1872T>C (p.His624=)
c.1729-21265T>C (n.1729-21265T>C)
c.1704T>C (p.His568=)
c.1530T>C (p.His510=)
c.1561-21265T>C (n.1561-21265T>C)
c.1558-21265T>C (n.1558-21265T>C)
n.2067T>C
c.1869T>C (p.His623=)
c.1749T>C (p.His583=)
c.1584T>C (p.His528=)
c.1527T>C (p.His509=)
c.1482T>C (p.His494=)
c.1305T>C (p.His435=)
c.1137T>C (p.His379=)
c.994-21265T>C (n.994-21265T>C)
 gnomAD v4
18g.49118780A>TCA300360637DYMc.1875T>A (p.His625Gln)
c.1710T>A (p.His570Gln)
c.1140T>A (p.His380Gln)
c.1707T>A (p.His569Gln)
c.1542T>A (p.His514Gln)
c.1564-21265T>A (n.1564-21265T>A)
c.1872T>A (p.His624Gln)
c.1729-21265T>A (n.1729-21265T>A)
c.1704T>A (p.His568Gln)
c.1530T>A (p.His510Gln)
c.1561-21265T>A (n.1561-21265T>A)
c.1558-21265T>A (n.1558-21265T>A)
n.2067T>A
c.1869T>A (p.His623Gln)
c.1749T>A (p.His583Gln)
c.1584T>A (p.His528Gln)
c.1527T>A (p.His509Gln)
c.1482T>A (p.His494Gln)
c.1305T>A (p.His435Gln)
c.1137T>A (p.His379Gln)
c.994-21265T>A (n.994-21265T>A)
 dbSNP gnomAD v3 gnomAD v4
18g.49118781T>ACA402507046DYMc.1874A>T (p.His625Leu)
c.1709A>T (p.His570Leu)
c.1139A>T (p.His380Leu)
c.1706A>T (p.His569Leu)
c.1541A>T (p.His514Leu)
c.1564-21266A>T (n.1564-21266A>T)
c.1871A>T (p.His624Leu)
c.1729-21266A>T (n.1729-21266A>T)
c.1703A>T (p.His568Leu)
c.1529A>T (p.His510Leu)
c.1561-21266A>T (n.1561-21266A>T)
c.1558-21266A>T (n.1558-21266A>T)
n.2066A>T
c.1868A>T (p.His623Leu)
c.1748A>T (p.His583Leu)
c.1583A>T (p.His528Leu)
c.1526A>T (p.His509Leu)
c.1481A>T (p.His494Leu)
c.1304A>T (p.His435Leu)
c.1136A>T (p.His379Leu)
c.994-21266A>T (n.994-21266A>T)
18g.49118781T>CCA402507047DYMc.1874A>G (p.His625Arg)
c.1709A>G (p.His570Arg)
c.1139A>G (p.His380Arg)
c.1706A>G (p.His569Arg)
c.1541A>G (p.His514Arg)
c.1564-21266A>G (n.1564-21266A>G)
c.1871A>G (p.His624Arg)
c.1729-21266A>G (n.1729-21266A>G)
c.1703A>G (p.His568Arg)
c.1529A>G (p.His510Arg)
c.1561-21266A>G (n.1561-21266A>G)
c.1558-21266A>G (n.1558-21266A>G)
n.2066A>G
c.1868A>G (p.His623Arg)
c.1748A>G (p.His583Arg)
c.1583A>G (p.His528Arg)
c.1526A>G (p.His509Arg)
c.1481A>G (p.His494Arg)
c.1304A>G (p.His435Arg)
c.1136A>G (p.His379Arg)
c.994-21266A>G (n.994-21266A>G)
18g.49118781T>GCA402507048DYMc.1874A>C (p.His625Pro)
c.1709A>C (p.His570Pro)
c.1139A>C (p.His380Pro)
c.1706A>C (p.His569Pro)
c.1541A>C (p.His514Pro)
c.1564-21266A>C (n.1564-21266A>C)
c.1871A>C (p.His624Pro)
c.1729-21266A>C (n.1729-21266A>C)
c.1703A>C (p.His568Pro)
c.1529A>C (p.His510Pro)
c.1561-21266A>C (n.1561-21266A>C)
c.1558-21266A>C (n.1558-21266A>C)
n.2066A>C
c.1868A>C (p.His623Pro)
c.1748A>C (p.His583Pro)
c.1583A>C (p.His528Pro)
c.1526A>C (p.His509Pro)
c.1481A>C (p.His494Pro)
c.1304A>C (p.His435Pro)
c.1136A>C (p.His379Pro)
c.994-21266A>C (n.994-21266A>C)
18g.49118782G>ACA402507051DYMc.1873C>T (p.His625Tyr)
c.1708C>T (p.His570Tyr)
c.1138C>T (p.His380Tyr)
c.1705C>T (p.His569Tyr)
c.1540C>T (p.His514Tyr)
c.1564-21267C>T (n.1564-21267C>T)
c.1870C>T (p.His624Tyr)
c.1729-21267C>T (n.1729-21267C>T)
c.1702C>T (p.His568Tyr)
c.1528C>T (p.His510Tyr)
c.1561-21267C>T (n.1561-21267C>T)
c.1558-21267C>T (n.1558-21267C>T)
n.2065C>T
c.1867C>T (p.His623Tyr)
c.1747C>T (p.His583Tyr)
c.1582C>T (p.His528Tyr)
c.1525C>T (p.His509Tyr)
c.1480C>T (p.His494Tyr)
c.1303C>T (p.His435Tyr)
c.1135C>T (p.His379Tyr)
c.994-21267C>T (n.994-21267C>T)
18g.49118782G>CCA402507050DYMc.1873C>G (p.His625Asp)
c.1708C>G (p.His570Asp)
c.1138C>G (p.His380Asp)
c.1705C>G (p.His569Asp)
c.1540C>G (p.His514Asp)
c.1564-21267C>G (n.1564-21267C>G)
c.1870C>G (p.His624Asp)
c.1729-21267C>G (n.1729-21267C>G)
c.1702C>G (p.His568Asp)
c.1528C>G (p.His510Asp)
c.1561-21267C>G (n.1561-21267C>G)
c.1558-21267C>G (n.1558-21267C>G)
n.2065C>G
c.1867C>G (p.His623Asp)
c.1747C>G (p.His583Asp)
c.1582C>G (p.His528Asp)
c.1525C>G (p.His509Asp)
c.1480C>G (p.His494Asp)
c.1303C>G (p.His435Asp)
c.1135C>G (p.His379Asp)
c.994-21267C>G (n.994-21267C>G)
18g.49118782G>TCA402507049DYMc.1873C>A (p.His625Asn)
c.1708C>A (p.His570Asn)
c.1138C>A (p.His380Asn)
c.1705C>A (p.His569Asn)
c.1540C>A (p.His514Asn)
c.1564-21267C>A (n.1564-21267C>A)
c.1870C>A (p.His624Asn)
c.1729-21267C>A (n.1729-21267C>A)
c.1702C>A (p.His568Asn)
c.1528C>A (p.His510Asn)
c.1561-21267C>A (n.1561-21267C>A)
c.1558-21267C>A (n.1558-21267C>A)
n.2065C>A
c.1867C>A (p.His623Asn)
c.1747C>A (p.His583Asn)
c.1582C>A (p.His528Asn)
c.1525C>A (p.His509Asn)
c.1480C>A (p.His494Asn)
c.1303C>A (p.His435Asn)
c.1135C>A (p.His379Asn)
c.994-21267C>A (n.994-21267C>A)
 COSMIC
18g.49118783A>CCA503936293DYMc.1872T>G (p.Thr624=)
c.1707T>G (p.Thr569=)
c.1137T>G (p.Thr379=)
c.1704T>G (p.Thr568=)
c.1539T>G (p.Thr513=)
c.1564-21268T>G (n.1564-21268T>G)
c.1869T>G (p.Thr623=)
c.1729-21268T>G (n.1729-21268T>G)
c.1701T>G (p.Thr567=)
c.1527T>G (p.Thr509=)
c.1561-21268T>G (n.1561-21268T>G)
c.1558-21268T>G (n.1558-21268T>G)
n.2064T>G
c.1866T>G (p.Thr622=)
c.1746T>G (p.Thr582=)
c.1581T>G (p.Thr527=)
c.1524T>G (p.Thr508=)
c.1479T>G (p.Thr493=)
c.1302T>G (p.Thr434=)
c.1134T>G (p.Thr378=)
c.994-21268T>G (n.994-21268T>G)
18g.49118783A>GCA503936294DYMc.1872T>C (p.Thr624=)
c.1707T>C (p.Thr569=)
c.1137T>C (p.Thr379=)
c.1704T>C (p.Thr568=)
c.1539T>C (p.Thr513=)
c.1564-21268T>C (n.1564-21268T>C)
c.1869T>C (p.Thr623=)
c.1729-21268T>C (n.1729-21268T>C)
c.1701T>C (p.Thr567=)
c.1527T>C (p.Thr509=)
c.1561-21268T>C (n.1561-21268T>C)
c.1558-21268T>C (n.1558-21268T>C)
n.2064T>C
c.1866T>C (p.Thr622=)
c.1746T>C (p.Thr582=)
c.1581T>C (p.Thr527=)
c.1524T>C (p.Thr508=)
c.1479T>C (p.Thr493=)
c.1302T>C (p.Thr434=)
c.1134T>C (p.Thr378=)
c.994-21268T>C (n.994-21268T>C)
18g.49118783A>TCA503936295DYMc.1872T>A (p.Thr624=)
c.1707T>A (p.Thr569=)
c.1137T>A (p.Thr379=)
c.1704T>A (p.Thr568=)
c.1539T>A (p.Thr513=)
c.1564-21268T>A (n.1564-21268T>A)
c.1869T>A (p.Thr623=)
c.1729-21268T>A (n.1729-21268T>A)
c.1701T>A (p.Thr567=)
c.1527T>A (p.Thr509=)
c.1561-21268T>A (n.1561-21268T>A)
c.1558-21268T>A (n.1558-21268T>A)
n.2064T>A
c.1866T>A (p.Thr622=)
c.1746T>A (p.Thr582=)
c.1581T>A (p.Thr527=)
c.1524T>A (p.Thr508=)
c.1479T>A (p.Thr493=)
c.1302T>A (p.Thr434=)
c.1134T>A (p.Thr378=)
c.994-21268T>A (n.994-21268T>A)
18g.49118784G>ACA8958002DYMc.1871C>T (p.Thr624Ile)
c.1706C>T (p.Thr569Ile)
c.1136C>T (p.Thr379Ile)
c.1703C>T (p.Thr568Ile)
c.1538C>T (p.Thr513Ile)
c.1564-21269C>T (n.1564-21269C>T)
c.1868C>T (p.Thr623Ile)
c.1729-21269C>T (n.1729-21269C>T)
c.1700C>T (p.Thr567Ile)
c.1526C>T (p.Thr509Ile)
c.1561-21269C>T (n.1561-21269C>T)
c.1558-21269C>T (n.1558-21269C>T)
n.2063C>T
c.1865C>T (p.Thr622Ile)
c.1745C>T (p.Thr582Ile)
c.1580C>T (p.Thr527Ile)
c.1523C>T (p.Thr508Ile)
c.1478C>T (p.Thr493Ile)
c.1301C>T (p.Thr434Ile)
c.1133C>T (p.Thr378Ile)
c.994-21269C>T (n.994-21269C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.49118784G>CCA402507052DYMc.1871C>G (p.Thr624Ser)
c.1706C>G (p.Thr569Ser)
c.1136C>G (p.Thr379Ser)
c.1703C>G (p.Thr568Ser)
c.1538C>G (p.Thr513Ser)
c.1564-21269C>G (n.1564-21269C>G)
c.1868C>G (p.Thr623Ser)
c.1729-21269C>G (n.1729-21269C>G)
c.1700C>G (p.Thr567Ser)
c.1526C>G (p.Thr509Ser)
c.1561-21269C>G (n.1561-21269C>G)
c.1558-21269C>G (n.1558-21269C>G)
n.2063C>G
c.1865C>G (p.Thr622Ser)
c.1745C>G (p.Thr582Ser)
c.1580C>G (p.Thr527Ser)
c.1523C>G (p.Thr508Ser)
c.1478C>G (p.Thr493Ser)
c.1301C>G (p.Thr434Ser)
c.1133C>G (p.Thr378Ser)
c.994-21269C>G (n.994-21269C>G)
 dbSNP gnomAD v3 gnomAD v4
18g.49118784G=CA2302066388DYMc.1871C= (p.Thr624=)
c.1706C= (p.Thr569=)
c.1136C= (p.Thr379=)
c.1703C= (p.Thr568=)
c.1538C= (p.Thr513=)
c.1564-21269C= (n.1564-21269C=)
c.1868C= (p.Thr623=)
c.1729-21269C= (n.1729-21269C=)
c.1700C= (p.Thr567=)
c.1526C= (p.Thr509=)
c.1561-21269C= (n.1561-21269C=)
c.1558-21269C= (n.1558-21269C=)
n.2063C=
c.1865C= (p.Thr622=)
c.1745C= (p.Thr582=)
c.1580C= (p.Thr527=)
c.1523C= (p.Thr508=)
c.1478C= (p.Thr493=)
c.1301C= (p.Thr434=)
c.1133C= (p.Thr378=)
c.994-21269C= (n.994-21269C=)
18g.49118784G>TCA402507053DYMc.1871C>A (p.Thr624Asn)
c.1706C>A (p.Thr569Asn)
c.1136C>A (p.Thr379Asn)
c.1703C>A (p.Thr568Asn)
c.1538C>A (p.Thr513Asn)
c.1564-21269C>A (n.1564-21269C>A)
c.1868C>A (p.Thr623Asn)
c.1729-21269C>A (n.1729-21269C>A)
c.1700C>A (p.Thr567Asn)
c.1526C>A (p.Thr509Asn)
c.1561-21269C>A (n.1561-21269C>A)
c.1558-21269C>A (n.1558-21269C>A)
n.2063C>A
c.1865C>A (p.Thr622Asn)
c.1745C>A (p.Thr582Asn)
c.1580C>A (p.Thr527Asn)
c.1523C>A (p.Thr508Asn)
c.1478C>A (p.Thr493Asn)
c.1301C>A (p.Thr434Asn)
c.1133C>A (p.Thr378Asn)
c.994-21269C>A (n.994-21269C>A)
18g.49118785T>ACA402507054DYMc.1870A>T (p.Thr624Ser)
c.1705A>T (p.Thr569Ser)
c.1135A>T (p.Thr379Ser)
c.1702A>T (p.Thr568Ser)
c.1537A>T (p.Thr513Ser)
c.1564-21270A>T (n.1564-21270A>T)
c.1867A>T (p.Thr623Ser)
c.1729-21270A>T (n.1729-21270A>T)
c.1699A>T (p.Thr567Ser)
c.1525A>T (p.Thr509Ser)
c.1561-21270A>T (n.1561-21270A>T)
c.1558-21270A>T (n.1558-21270A>T)
n.2062A>T
c.1864A>T (p.Thr622Ser)
c.1744A>T (p.Thr582Ser)
c.1579A>T (p.Thr527Ser)
c.1522A>T (p.Thr508Ser)
c.1477A>T (p.Thr493Ser)
c.1300A>T (p.Thr434Ser)
c.1132A>T (p.Thr378Ser)
c.994-21270A>T (n.994-21270A>T)
18g.49118785T>CCA402507055DYMc.1870A>G (p.Thr624Ala)
c.1705A>G (p.Thr569Ala)
c.1135A>G (p.Thr379Ala)
c.1702A>G (p.Thr568Ala)
c.1537A>G (p.Thr513Ala)
c.1564-21270A>G (n.1564-21270A>G)
c.1867A>G (p.Thr623Ala)
c.1729-21270A>G (n.1729-21270A>G)
c.1699A>G (p.Thr567Ala)
c.1525A>G (p.Thr509Ala)
c.1561-21270A>G (n.1561-21270A>G)
c.1558-21270A>G (n.1558-21270A>G)
n.2062A>G
c.1864A>G (p.Thr622Ala)
c.1744A>G (p.Thr582Ala)
c.1579A>G (p.Thr527Ala)
c.1522A>G (p.Thr508Ala)
c.1477A>G (p.Thr493Ala)
c.1300A>G (p.Thr434Ala)
c.1132A>G (p.Thr378Ala)
c.994-21270A>G (n.994-21270A>G)
 ClinVar
18g.49118785T>GCA402507056DYMc.1870A>C (p.Thr624Pro)
c.1705A>C (p.Thr569Pro)
c.1135A>C (p.Thr379Pro)
c.1702A>C (p.Thr568Pro)
c.1537A>C (p.Thr513Pro)
c.1564-21270A>C (n.1564-21270A>C)
c.1867A>C (p.Thr623Pro)
c.1729-21270A>C (n.1729-21270A>C)
c.1699A>C (p.Thr567Pro)
c.1525A>C (p.Thr509Pro)
c.1561-21270A>C (n.1561-21270A>C)
c.1558-21270A>C (n.1558-21270A>C)
n.2062A>C
c.1864A>C (p.Thr622Pro)
c.1744A>C (p.Thr582Pro)
c.1579A>C (p.Thr527Pro)
c.1522A>C (p.Thr508Pro)
c.1477A>C (p.Thr493Pro)
c.1300A>C (p.Thr434Pro)
c.1132A>C (p.Thr378Pro)
c.994-21270A>C (n.994-21270A>C)
18g.49118786T>ACA503936303DYMc.1869A>T (p.Arg623=)
c.1704A>T (p.Arg568=)
c.1134A>T (p.Arg378=)
c.1701A>T (p.Arg567=)
c.1536A>T (p.Arg512=)
c.1564-21271A>T (n.1564-21271A>T)
c.1866A>T (p.Arg622=)
c.1729-21271A>T (n.1729-21271A>T)
c.1698A>T (p.Arg566=)
c.1524A>T (p.Arg508=)
c.1561-21271A>T (n.1561-21271A>T)
c.1558-21271A>T (n.1558-21271A>T)
n.2061A>T
c.1863A>T (p.Arg621=)
c.1743A>T (p.Arg581=)
c.1578A>T (p.Arg526=)
c.1521A>T (p.Arg507=)
c.1476A>T (p.Arg492=)
c.1299A>T (p.Arg433=)
c.1131A>T (p.Arg377=)
c.994-21271A>T (n.994-21271A>T)
18g.49118786T>CCA503936301DYMc.1869A>G (p.Arg623=)
c.1704A>G (p.Arg568=)
c.1134A>G (p.Arg378=)
c.1701A>G (p.Arg567=)
c.1536A>G (p.Arg512=)
c.1564-21271A>G (n.1564-21271A>G)
c.1866A>G (p.Arg622=)
c.1729-21271A>G (n.1729-21271A>G)
c.1698A>G (p.Arg566=)
c.1524A>G (p.Arg508=)
c.1561-21271A>G (n.1561-21271A>G)
c.1558-21271A>G (n.1558-21271A>G)
n.2061A>G
c.1863A>G (p.Arg621=)
c.1743A>G (p.Arg581=)
c.1578A>G (p.Arg526=)
c.1521A>G (p.Arg507=)
c.1476A>G (p.Arg492=)
c.1299A>G (p.Arg433=)
c.1131A>G (p.Arg377=)
c.994-21271A>G (n.994-21271A>G)
18g.49118786T>GCA503936300DYMc.1869A>C (p.Arg623=)
c.1704A>C (p.Arg568=)
c.1134A>C (p.Arg378=)
c.1701A>C (p.Arg567=)
c.1536A>C (p.Arg512=)
c.1564-21271A>C (n.1564-21271A>C)
c.1866A>C (p.Arg622=)
c.1729-21271A>C (n.1729-21271A>C)
c.1698A>C (p.Arg566=)
c.1524A>C (p.Arg508=)
c.1561-21271A>C (n.1561-21271A>C)
c.1558-21271A>C (n.1558-21271A>C)
n.2061A>C
c.1863A>C (p.Arg621=)
c.1743A>C (p.Arg581=)
c.1578A>C (p.Arg526=)
c.1521A>C (p.Arg507=)
c.1476A>C (p.Arg492=)
c.1299A>C (p.Arg433=)
c.1131A>C (p.Arg377=)
c.994-21271A>C (n.994-21271A>C)
18g.49118787C>ACA402507057DYMc.1868G>T (p.Arg623Leu)
c.1703G>T (p.Arg568Leu)
c.1133G>T (p.Arg378Leu)
c.1700G>T (p.Arg567Leu)
c.1535G>T (p.Arg512Leu)
c.1564-21272G>T (n.1564-21272G>T)
c.1865G>T (p.Arg622Leu)
c.1729-21272G>T (n.1729-21272G>T)
c.1697G>T (p.Arg566Leu)
c.1523G>T (p.Arg508Leu)
c.1561-21272G>T (n.1561-21272G>T)
c.1558-21272G>T (n.1558-21272G>T)
n.2060G>T
c.1862G>T (p.Arg621Leu)
c.1742G>T (p.Arg581Leu)
c.1577G>T (p.Arg526Leu)
c.1520G>T (p.Arg507Leu)
c.1475G>T (p.Arg492Leu)
c.1298G>T (p.Arg433Leu)
c.1130G>T (p.Arg377Leu)
c.994-21272G>T (n.994-21272G>T)
 gnomAD v4
18g.49118787C=CA2302066389DYMc.1868G= (p.Arg623=)
c.1703G= (p.Arg568=)
c.1133G= (p.Arg378=)
c.1700G= (p.Arg567=)
c.1535G= (p.Arg512=)
c.1564-21272G= (n.1564-21272G=)
c.1865G= (p.Arg622=)
c.1729-21272G= (n.1729-21272G=)
c.1697G= (p.Arg566=)
c.1523G= (p.Arg508=)
c.1561-21272G= (n.1561-21272G=)
c.1558-21272G= (n.1558-21272G=)
n.2060G=
c.1862G= (p.Arg621=)
c.1742G= (p.Arg581=)
c.1577G= (p.Arg526=)
c.1520G= (p.Arg507=)
c.1475G= (p.Arg492=)
c.1298G= (p.Arg433=)
c.1130G= (p.Arg377=)
c.994-21272G= (n.994-21272G=)
18g.49118787C>GCA402507058DYMc.1868G>C (p.Arg623Pro)
c.1703G>C (p.Arg568Pro)
c.1133G>C (p.Arg378Pro)
c.1700G>C (p.Arg567Pro)
c.1535G>C (p.Arg512Pro)
c.1564-21272G>C (n.1564-21272G>C)
c.1865G>C (p.Arg622Pro)
c.1729-21272G>C (n.1729-21272G>C)
c.1697G>C (p.Arg566Pro)
c.1523G>C (p.Arg508Pro)
c.1561-21272G>C (n.1561-21272G>C)
c.1558-21272G>C (n.1558-21272G>C)
n.2060G>C
c.1862G>C (p.Arg621Pro)
c.1742G>C (p.Arg581Pro)
c.1577G>C (p.Arg526Pro)
c.1520G>C (p.Arg507Pro)
c.1475G>C (p.Arg492Pro)
c.1298G>C (p.Arg433Pro)
c.1130G>C (p.Arg377Pro)
c.994-21272G>C (n.994-21272G>C)
18g.49118787C>TCA8958003DYMc.1868G>A (p.Arg623Gln)
c.1703G>A (p.Arg568Gln)
c.1133G>A (p.Arg378Gln)
c.1700G>A (p.Arg567Gln)
c.1535G>A (p.Arg512Gln)
c.1564-21272G>A (n.1564-21272G>A)
c.1865G>A (p.Arg622Gln)
c.1729-21272G>A (n.1729-21272G>A)
c.1697G>A (p.Arg566Gln)
c.1523G>A (p.Arg508Gln)
c.1561-21272G>A (n.1561-21272G>A)
c.1558-21272G>A (n.1558-21272G>A)
n.2060G>A
c.1862G>A (p.Arg621Gln)
c.1742G>A (p.Arg581Gln)
c.1577G>A (p.Arg526Gln)
c.1520G>A (p.Arg507Gln)
c.1475G>A (p.Arg492Gln)
c.1298G>A (p.Arg433Gln)
c.1130G>A (p.Arg377Gln)
c.994-21272G>A (n.994-21272G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.49118788G>ACA8958004DYMc.1867C>T (p.Arg623Ter)
c.1702C>T (p.Arg568Ter)
c.1132C>T (p.Arg378Ter)
c.1699C>T (p.Arg567Ter)
c.1534C>T (p.Arg512Ter)
c.1564-21273C>T (n.1564-21273C>T)
c.1864C>T (p.Arg622Ter)
c.1729-21273C>T (n.1729-21273C>T)
c.1696C>T (p.Arg566Ter)
c.1522C>T (p.Arg508Ter)
c.1561-21273C>T (n.1561-21273C>T)
c.1558-21273C>T (n.1558-21273C>T)
n.2059C>T
c.1861C>T (p.Arg621Ter)
c.1741C>T (p.Arg581Ter)
c.1576C>T (p.Arg526Ter)
c.1519C>T (p.Arg507Ter)
c.1474C>T (p.Arg492Ter)
c.1297C>T (p.Arg433Ter)
c.1129C>T (p.Arg377Ter)
c.994-21273C>T (n.994-21273C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.49118788G>CCA402507059DYMc.1867C>G (p.Arg623Gly)
c.1702C>G (p.Arg568Gly)
c.1132C>G (p.Arg378Gly)
c.1699C>G (p.Arg567Gly)
c.1534C>G (p.Arg512Gly)
c.1564-21273C>G (n.1564-21273C>G)
c.1864C>G (p.Arg622Gly)
c.1729-21273C>G (n.1729-21273C>G)
c.1696C>G (p.Arg566Gly)
c.1522C>G (p.Arg508Gly)
c.1561-21273C>G (n.1561-21273C>G)
c.1558-21273C>G (n.1558-21273C>G)
n.2059C>G
c.1861C>G (p.Arg621Gly)
c.1741C>G (p.Arg581Gly)
c.1576C>G (p.Arg526Gly)
c.1519C>G (p.Arg507Gly)
c.1474C>G (p.Arg492Gly)
c.1297C>G (p.Arg433Gly)
c.1129C>G (p.Arg377Gly)
c.994-21273C>G (n.994-21273C>G)
18g.49118788G=CA2302066390DYMc.1867C= (p.Arg623=)
c.1702C= (p.Arg568=)
c.1132C= (p.Arg378=)
c.1699C= (p.Arg567=)
c.1534C= (p.Arg512=)
c.1564-21273C= (n.1564-21273C=)
c.1864C= (p.Arg622=)
c.1729-21273C= (n.1729-21273C=)
c.1696C= (p.Arg566=)
c.1522C= (p.Arg508=)
c.1561-21273C= (n.1561-21273C=)
c.1558-21273C= (n.1558-21273C=)
n.2059C=
c.1861C= (p.Arg621=)
c.1741C= (p.Arg581=)
c.1576C= (p.Arg526=)
c.1519C= (p.Arg507=)
c.1474C= (p.Arg492=)
c.1297C= (p.Arg433=)
c.1129C= (p.Arg377=)
c.994-21273C= (n.994-21273C=)
18g.49118788G>TCA503936305DYMc.1867C>A (p.Arg623=)
c.1702C>A (p.Arg568=)
c.1132C>A (p.Arg378=)
c.1699C>A (p.Arg567=)
c.1534C>A (p.Arg512=)
c.1564-21273C>A (n.1564-21273C>A)
c.1864C>A (p.Arg622=)
c.1729-21273C>A (n.1729-21273C>A)
c.1696C>A (p.Arg566=)
c.1522C>A (p.Arg508=)
c.1561-21273C>A (n.1561-21273C>A)
c.1558-21273C>A (n.1558-21273C>A)
n.2059C>A
c.1861C>A (p.Arg621=)
c.1741C>A (p.Arg581=)
c.1576C>A (p.Arg526=)
c.1519C>A (p.Arg507=)
c.1474C>A (p.Arg492=)
c.1297C>A (p.Arg433=)
c.1129C>A (p.Arg377=)
c.994-21273C>A (n.994-21273C>A)
18g.49118789A>CCA402507060DYMc.1866T>G (p.Phe622Leu)
c.1701T>G (p.Phe567Leu)
c.1131T>G (p.Phe377Leu)
c.1698T>G (p.Phe566Leu)
c.1533T>G (p.Phe511Leu)
c.1564-21274T>G (n.1564-21274T>G)
c.1863T>G (p.Phe621Leu)
c.1729-21274T>G (n.1729-21274T>G)
c.1695T>G (p.Phe565Leu)
c.1521T>G (p.Phe507Leu)
c.1561-21274T>G (n.1561-21274T>G)
c.1558-21274T>G (n.1558-21274T>G)
n.2058T>G
c.1860T>G (p.Phe620Leu)
c.1740T>G (p.Phe580Leu)
c.1575T>G (p.Phe525Leu)
c.1518T>G (p.Phe506Leu)
c.1473T>G (p.Phe491Leu)
c.1296T>G (p.Phe432Leu)
c.1128T>G (p.Phe376Leu)
c.994-21274T>G (n.994-21274T>G)
18g.49118789A>GCA503936307DYMc.1866T>C (p.Phe622=)
c.1701T>C (p.Phe567=)
c.1131T>C (p.Phe377=)
c.1698T>C (p.Phe566=)
c.1533T>C (p.Phe511=)
c.1564-21274T>C (n.1564-21274T>C)
c.1863T>C (p.Phe621=)
c.1729-21274T>C (n.1729-21274T>C)
c.1695T>C (p.Phe565=)
c.1521T>C (p.Phe507=)
c.1561-21274T>C (n.1561-21274T>C)
c.1558-21274T>C (n.1558-21274T>C)
n.2058T>C
c.1860T>C (p.Phe620=)
c.1740T>C (p.Phe580=)
c.1575T>C (p.Phe525=)
c.1518T>C (p.Phe506=)
c.1473T>C (p.Phe491=)
c.1296T>C (p.Phe432=)
c.1128T>C (p.Phe376=)
c.994-21274T>C (n.994-21274T>C)
18g.49118789A>TCA402507061DYMc.1866T>A (p.Phe622Leu)
c.1701T>A (p.Phe567Leu)
c.1131T>A (p.Phe377Leu)
c.1698T>A (p.Phe566Leu)
c.1533T>A (p.Phe511Leu)
c.1564-21274T>A (n.1564-21274T>A)
c.1863T>A (p.Phe621Leu)
c.1729-21274T>A (n.1729-21274T>A)
c.1695T>A (p.Phe565Leu)
c.1521T>A (p.Phe507Leu)
c.1561-21274T>A (n.1561-21274T>A)
c.1558-21274T>A (n.1558-21274T>A)
n.2058T>A
c.1860T>A (p.Phe620Leu)
c.1740T>A (p.Phe580Leu)
c.1575T>A (p.Phe525Leu)
c.1518T>A (p.Phe506Leu)
c.1473T>A (p.Phe491Leu)
c.1296T>A (p.Phe432Leu)
c.1128T>A (p.Phe376Leu)
c.994-21274T>A (n.994-21274T>A)
 gnomAD v4
18g.49118790A>CCA402507064DYMc.1865T>G (p.Phe622Cys)
c.1700T>G (p.Phe567Cys)
c.1130T>G (p.Phe377Cys)
c.1697T>G (p.Phe566Cys)
c.1532T>G (p.Phe511Cys)
c.1564-21275T>G (n.1564-21275T>G)
c.1862T>G (p.Phe621Cys)
c.1729-21275T>G (n.1729-21275T>G)
c.1694T>G (p.Phe565Cys)
c.1520T>G (p.Phe507Cys)
c.1561-21275T>G (n.1561-21275T>G)
c.1558-21275T>G (n.1558-21275T>G)
n.2057T>G
c.1859T>G (p.Phe620Cys)
c.1739T>G (p.Phe580Cys)
c.1574T>G (p.Phe525Cys)
c.1517T>G (p.Phe506Cys)
c.1472T>G (p.Phe491Cys)
c.1295T>G (p.Phe432Cys)
c.1127T>G (p.Phe376Cys)
c.994-21275T>G (n.994-21275T>G)
18g.49118790A>GCA402507063DYMc.1865T>C (p.Phe622Ser)
c.1700T>C (p.Phe567Ser)
c.1130T>C (p.Phe377Ser)
c.1697T>C (p.Phe566Ser)
c.1532T>C (p.Phe511Ser)
c.1564-21275T>C (n.1564-21275T>C)
c.1862T>C (p.Phe621Ser)
c.1729-21275T>C (n.1729-21275T>C)
c.1694T>C (p.Phe565Ser)
c.1520T>C (p.Phe507Ser)
c.1561-21275T>C (n.1561-21275T>C)
c.1558-21275T>C (n.1558-21275T>C)
n.2057T>C
c.1859T>C (p.Phe620Ser)
c.1739T>C (p.Phe580Ser)
c.1574T>C (p.Phe525Ser)
c.1517T>C (p.Phe506Ser)
c.1472T>C (p.Phe491Ser)
c.1295T>C (p.Phe432Ser)
c.1127T>C (p.Phe376Ser)
c.994-21275T>C (n.994-21275T>C)
18g.49118790A>TCA402507062DYMc.1865T>A (p.Phe622Tyr)
c.1700T>A (p.Phe567Tyr)
c.1130T>A (p.Phe377Tyr)
c.1697T>A (p.Phe566Tyr)
c.1532T>A (p.Phe511Tyr)
c.1564-21275T>A (n.1564-21275T>A)
c.1862T>A (p.Phe621Tyr)
c.1729-21275T>A (n.1729-21275T>A)
c.1694T>A (p.Phe565Tyr)
c.1520T>A (p.Phe507Tyr)
c.1561-21275T>A (n.1561-21275T>A)
c.1558-21275T>A (n.1558-21275T>A)
n.2057T>A
c.1859T>A (p.Phe620Tyr)
c.1739T>A (p.Phe580Tyr)
c.1574T>A (p.Phe525Tyr)
c.1517T>A (p.Phe506Tyr)
c.1472T>A (p.Phe491Tyr)
c.1295T>A (p.Phe432Tyr)
c.1127T>A (p.Phe376Tyr)
c.994-21275T>A (n.994-21275T>A)
18g.49118791A>CCA402507065DYMc.1864T>G (p.Phe622Val)
c.1699T>G (p.Phe567Val)
c.1129T>G (p.Phe377Val)
c.1696T>G (p.Phe566Val)
c.1531T>G (p.Phe511Val)
c.1564-21276T>G (n.1564-21276T>G)
c.1861T>G (p.Phe621Val)
c.1729-21276T>G (n.1729-21276T>G)
c.1693T>G (p.Phe565Val)
c.1519T>G (p.Phe507Val)
c.1561-21276T>G (n.1561-21276T>G)
c.1558-21276T>G (n.1558-21276T>G)
n.2056T>G
c.1858T>G (p.Phe620Val)
c.1738T>G (p.Phe580Val)
c.1573T>G (p.Phe525Val)
c.1516T>G (p.Phe506Val)
c.1471T>G (p.Phe491Val)
c.1294T>G (p.Phe432Val)
c.1126T>G (p.Phe376Val)
c.994-21276T>G (n.994-21276T>G)
18g.49118791A>GCA402507066DYMc.1864T>C (p.Phe622Leu)
c.1699T>C (p.Phe567Leu)
c.1129T>C (p.Phe377Leu)
c.1696T>C (p.Phe566Leu)
c.1531T>C (p.Phe511Leu)
c.1564-21276T>C (n.1564-21276T>C)
c.1861T>C (p.Phe621Leu)
c.1729-21276T>C (n.1729-21276T>C)
c.1693T>C (p.Phe565Leu)
c.1519T>C (p.Phe507Leu)
c.1561-21276T>C (n.1561-21276T>C)
c.1558-21276T>C (n.1558-21276T>C)
n.2056T>C
c.1858T>C (p.Phe620Leu)
c.1738T>C (p.Phe580Leu)
c.1573T>C (p.Phe525Leu)
c.1516T>C (p.Phe506Leu)
c.1471T>C (p.Phe491Leu)
c.1294T>C (p.Phe432Leu)
c.1126T>C (p.Phe376Leu)
c.994-21276T>C (n.994-21276T>C)
18g.49118791A>TCA402507067DYMc.1864T>A (p.Phe622Ile)
c.1699T>A (p.Phe567Ile)
c.1129T>A (p.Phe377Ile)
c.1696T>A (p.Phe566Ile)
c.1531T>A (p.Phe511Ile)
c.1564-21276T>A (n.1564-21276T>A)
c.1861T>A (p.Phe621Ile)
c.1729-21276T>A (n.1729-21276T>A)
c.1693T>A (p.Phe565Ile)
c.1519T>A (p.Phe507Ile)
c.1561-21276T>A (n.1561-21276T>A)
c.1558-21276T>A (n.1558-21276T>A)
n.2056T>A
c.1858T>A (p.Phe620Ile)
c.1738T>A (p.Phe580Ile)
c.1573T>A (p.Phe525Ile)
c.1516T>A (p.Phe506Ile)
c.1471T>A (p.Phe491Ile)
c.1294T>A (p.Phe432Ile)
c.1126T>A (p.Phe376Ile)
c.994-21276T>A (n.994-21276T>A)
18g.49118792T>ACA402507068DYMc.1863A>T (p.Gln621His)
c.1698A>T (p.Gln566His)
c.1128A>T (p.Gln376His)
c.1695A>T (p.Gln565His)
c.1530A>T (p.Gln510His)
c.1564-21277A>T (n.1564-21277A>T)
c.1860A>T (p.Gln620His)
c.1729-21277A>T (n.1729-21277A>T)
c.1692A>T (p.Gln564His)
c.1518A>T (p.Gln506His)
c.1561-21277A>T (n.1561-21277A>T)
c.1558-21277A>T (n.1558-21277A>T)
n.2055A>T
c.1857A>T (p.Gln619His)
c.1737A>T (p.Gln579His)
c.1572A>T (p.Gln524His)
c.1515A>T (p.Gln505His)
c.1470A>T (p.Gln490His)
c.1293A>T (p.Gln431His)
c.1125A>T (p.Gln375His)
c.994-21277A>T (n.994-21277A>T)
18g.49118792T>CCA8958005DYMc.1863A>G (p.Gln621=)
c.1698A>G (p.Gln566=)
c.1128A>G (p.Gln376=)
c.1695A>G (p.Gln565=)
c.1530A>G (p.Gln510=)
c.1564-21277A>G (n.1564-21277A>G)
c.1860A>G (p.Gln620=)
c.1729-21277A>G (n.1729-21277A>G)
c.1692A>G (p.Gln564=)
c.1518A>G (p.Gln506=)
c.1561-21277A>G (n.1561-21277A>G)
c.1558-21277A>G (n.1558-21277A>G)
n.2055A>G
c.1857A>G (p.Gln619=)
c.1737A>G (p.Gln579=)
c.1572A>G (p.Gln524=)
c.1515A>G (p.Gln505=)
c.1470A>G (p.Gln490=)
c.1293A>G (p.Gln431=)
c.1125A>G (p.Gln375=)
c.994-21277A>G (n.994-21277A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.49118792T>GCA402507069DYMc.1863A>C (p.Gln621His)
c.1698A>C (p.Gln566His)
c.1128A>C (p.Gln376His)
c.1695A>C (p.Gln565His)
c.1530A>C (p.Gln510His)
c.1564-21277A>C (n.1564-21277A>C)
c.1860A>C (p.Gln620His)
c.1729-21277A>C (n.1729-21277A>C)
c.1692A>C (p.Gln564His)
c.1518A>C (p.Gln506His)
c.1561-21277A>C (n.1561-21277A>C)
c.1558-21277A>C (n.1558-21277A>C)
n.2055A>C
c.1857A>C (p.Gln619His)
c.1737A>C (p.Gln579His)
c.1572A>C (p.Gln524His)
c.1515A>C (p.Gln505His)
c.1470A>C (p.Gln490His)
c.1293A>C (p.Gln431His)
c.1125A>C (p.Gln375His)
c.994-21277A>C (n.994-21277A>C)
18g.49118792T=CA2302066391DYMc.1863A= (p.Gln621=)
c.1698A= (p.Gln566=)
c.1128A= (p.Gln376=)
c.1695A= (p.Gln565=)
c.1530A= (p.Gln510=)
c.1564-21277A= (n.1564-21277A=)
c.1860A= (p.Gln620=)
c.1729-21277A= (n.1729-21277A=)
c.1692A= (p.Gln564=)
c.1518A= (p.Gln506=)
c.1561-21277A= (n.1561-21277A=)
c.1558-21277A= (n.1558-21277A=)
n.2055A=
c.1857A= (p.Gln619=)
c.1737A= (p.Gln579=)
c.1572A= (p.Gln524=)
c.1515A= (p.Gln505=)
c.1470A= (p.Gln490=)
c.1293A= (p.Gln431=)
c.1125A= (p.Gln375=)
c.994-21277A= (n.994-21277A=)
18g.49118793T>ACA402507070DYMc.1862A>T (p.Gln621Leu)
c.1697A>T (p.Gln566Leu)
c.1127A>T (p.Gln376Leu)
c.1694A>T (p.Gln565Leu)
c.1529A>T (p.Gln510Leu)
c.1564-21278A>T (n.1564-21278A>T)
c.1859A>T (p.Gln620Leu)
c.1729-21278A>T (n.1729-21278A>T)
c.1691A>T (p.Gln564Leu)
c.1517A>T (p.Gln506Leu)
c.1561-21278A>T (n.1561-21278A>T)
c.1558-21278A>T (n.1558-21278A>T)
n.2054A>T
c.1856A>T (p.Gln619Leu)
c.1736A>T (p.Gln579Leu)
c.1571A>T (p.Gln524Leu)
c.1514A>T (p.Gln505Leu)
c.1469A>T (p.Gln490Leu)
c.1292A>T (p.Gln431Leu)
c.1124A>T (p.Gln375Leu)
c.994-21278A>T (n.994-21278A>T)
18g.49118793T>CCA402507071DYMc.1862A>G (p.Gln621Arg)
c.1697A>G (p.Gln566Arg)
c.1127A>G (p.Gln376Arg)
c.1694A>G (p.Gln565Arg)
c.1529A>G (p.Gln510Arg)
c.1564-21278A>G (n.1564-21278A>G)
c.1859A>G (p.Gln620Arg)
c.1729-21278A>G (n.1729-21278A>G)
c.1691A>G (p.Gln564Arg)
c.1517A>G (p.Gln506Arg)
c.1561-21278A>G (n.1561-21278A>G)
c.1558-21278A>G (n.1558-21278A>G)
n.2054A>G
c.1856A>G (p.Gln619Arg)
c.1736A>G (p.Gln579Arg)
c.1571A>G (p.Gln524Arg)
c.1514A>G (p.Gln505Arg)
c.1469A>G (p.Gln490Arg)
c.1292A>G (p.Gln431Arg)
c.1124A>G (p.Gln375Arg)
c.994-21278A>G (n.994-21278A>G)
 gnomAD v4
18g.49118793T>GCA402507072DYMc.1862A>C (p.Gln621Pro)
c.1697A>C (p.Gln566Pro)
c.1127A>C (p.Gln376Pro)
c.1694A>C (p.Gln565Pro)
c.1529A>C (p.Gln510Pro)
c.1564-21278A>C (n.1564-21278A>C)
c.1859A>C (p.Gln620Pro)
c.1729-21278A>C (n.1729-21278A>C)
c.1691A>C (p.Gln564Pro)
c.1517A>C (p.Gln506Pro)
c.1561-21278A>C (n.1561-21278A>C)
c.1558-21278A>C (n.1558-21278A>C)
n.2054A>C
c.1856A>C (p.Gln619Pro)
c.1736A>C (p.Gln579Pro)
c.1571A>C (p.Gln524Pro)
c.1514A>C (p.Gln505Pro)
c.1469A>C (p.Gln490Pro)
c.1292A>C (p.Gln431Pro)
c.1124A>C (p.Gln375Pro)
c.994-21278A>C (n.994-21278A>C)
18g.49118794G>ACA8958006DYMc.1861C>T (p.Gln621Ter)
c.1696C>T (p.Gln566Ter)
c.1126C>T (p.Gln376Ter)
c.1693C>T (p.Gln565Ter)
c.1528C>T (p.Gln510Ter)
c.1564-21279C>T (n.1564-21279C>T)
c.1858C>T (p.Gln620Ter)
c.1729-21279C>T (n.1729-21279C>T)
c.1690C>T (p.Gln564Ter)
c.1516C>T (p.Gln506Ter)
c.1561-21279C>T (n.1561-21279C>T)
c.1558-21279C>T (n.1558-21279C>T)
n.2053C>T
c.1855C>T (p.Gln619Ter)
c.1735C>T (p.Gln579Ter)
c.1570C>T (p.Gln524Ter)
c.1513C>T (p.Gln505Ter)
c.1468C>T (p.Gln490Ter)
c.1291C>T (p.Gln431Ter)
c.1123C>T (p.Gln375Ter)
c.994-21279C>T (n.994-21279C>T)
 dbSNP ExAC gnomAD v2
18g.49118794G>CCA402507073DYMc.1861C>G (p.Gln621Glu)
c.1696C>G (p.Gln566Glu)
c.1126C>G (p.Gln376Glu)
c.1693C>G (p.Gln565Glu)
c.1528C>G (p.Gln510Glu)
c.1564-21279C>G (n.1564-21279C>G)
c.1858C>G (p.Gln620Glu)
c.1729-21279C>G (n.1729-21279C>G)
c.1690C>G (p.Gln564Glu)
c.1516C>G (p.Gln506Glu)
c.1561-21279C>G (n.1561-21279C>G)
c.1558-21279C>G (n.1558-21279C>G)
n.2053C>G
c.1855C>G (p.Gln619Glu)
c.1735C>G (p.Gln579Glu)
c.1570C>G (p.Gln524Glu)
c.1513C>G (p.Gln505Glu)
c.1468C>G (p.Gln490Glu)
c.1291C>G (p.Gln431Glu)
c.1123C>G (p.Gln375Glu)
c.994-21279C>G (n.994-21279C>G)
18g.49118794G=CA2302066392DYMc.1861C= (p.Gln621=)
c.1696C= (p.Gln566=)
c.1126C= (p.Gln376=)
c.1693C= (p.Gln565=)
c.1528C= (p.Gln510=)
c.1564-21279C= (n.1564-21279C=)
c.1858C= (p.Gln620=)
c.1729-21279C= (n.1729-21279C=)
c.1690C= (p.Gln564=)
c.1516C= (p.Gln506=)
c.1561-21279C= (n.1561-21279C=)
c.1558-21279C= (n.1558-21279C=)
n.2053C=
c.1855C= (p.Gln619=)
c.1735C= (p.Gln579=)
c.1570C= (p.Gln524=)
c.1513C= (p.Gln505=)
c.1468C= (p.Gln490=)
c.1291C= (p.Gln431=)
c.1123C= (p.Gln375=)
c.994-21279C= (n.994-21279C=)
18g.49118794G>TCA402507074DYMc.1861C>A (p.Gln621Lys)
c.1696C>A (p.Gln566Lys)
c.1126C>A (p.Gln376Lys)
c.1693C>A (p.Gln565Lys)
c.1528C>A (p.Gln510Lys)
c.1564-21279C>A (n.1564-21279C>A)
c.1858C>A (p.Gln620Lys)
c.1729-21279C>A (n.1729-21279C>A)
c.1690C>A (p.Gln564Lys)
c.1516C>A (p.Gln506Lys)
c.1561-21279C>A (n.1561-21279C>A)
c.1558-21279C>A (n.1558-21279C>A)
n.2053C>A
c.1855C>A (p.Gln619Lys)
c.1735C>A (p.Gln579Lys)
c.1570C>A (p.Gln524Lys)
c.1513C>A (p.Gln505Lys)
c.1468C>A (p.Gln490Lys)
c.1291C>A (p.Gln431Lys)
c.1123C>A (p.Gln375Lys)
c.994-21279C>A (n.994-21279C>A)
 gnomAD v4
18g.49118795T>ACA402507075DYMc.1860A>T (p.Glu620Asp)
c.1695A>T (p.Glu565Asp)
c.1125A>T (p.Glu375Asp)
c.1692A>T (p.Glu564Asp)
c.1527A>T (p.Glu509Asp)
c.1564-21280A>T (n.1564-21280A>T)
c.1857A>T (p.Glu619Asp)
c.1729-21280A>T (n.1729-21280A>T)
c.1689A>T (p.Glu563Asp)
c.1515A>T (p.Glu505Asp)
c.1561-21280A>T (n.1561-21280A>T)
c.1558-21280A>T (n.1558-21280A>T)
n.2052A>T
c.1854A>T (p.Glu618Asp)
c.1734A>T (p.Glu578Asp)
c.1569A>T (p.Glu523Asp)
c.1512A>T (p.Glu504Asp)
c.1467A>T (p.Glu489Asp)
c.1290A>T (p.Glu430Asp)
c.1122A>T (p.Glu374Asp)
c.994-21280A>T (n.994-21280A>T)
18g.49118795T>CCA503936313DYMc.1860A>G (p.Glu620=)
c.1695A>G (p.Glu565=)
c.1125A>G (p.Glu375=)
c.1692A>G (p.Glu564=)
c.1527A>G (p.Glu509=)
c.1564-21280A>G (n.1564-21280A>G)
c.1857A>G (p.Glu619=)
c.1729-21280A>G (n.1729-21280A>G)
c.1689A>G (p.Glu563=)
c.1515A>G (p.Glu505=)
c.1561-21280A>G (n.1561-21280A>G)
c.1558-21280A>G (n.1558-21280A>G)
n.2052A>G
c.1854A>G (p.Glu618=)
c.1734A>G (p.Glu578=)
c.1569A>G (p.Glu523=)
c.1512A>G (p.Glu504=)
c.1467A>G (p.Glu489=)
c.1290A>G (p.Glu430=)
c.1122A>G (p.Glu374=)
c.994-21280A>G (n.994-21280A>G)
18g.49118795T>GCA402507076DYMc.1860A>C (p.Glu620Asp)
c.1695A>C (p.Glu565Asp)
c.1125A>C (p.Glu375Asp)
c.1692A>C (p.Glu564Asp)
c.1527A>C (p.Glu509Asp)
c.1564-21280A>C (n.1564-21280A>C)
c.1857A>C (p.Glu619Asp)
c.1729-21280A>C (n.1729-21280A>C)
c.1689A>C (p.Glu563Asp)
c.1515A>C (p.Glu505Asp)
c.1561-21280A>C (n.1561-21280A>C)
c.1558-21280A>C (n.1558-21280A>C)
n.2052A>C
c.1854A>C (p.Glu618Asp)
c.1734A>C (p.Glu578Asp)
c.1569A>C (p.Glu523Asp)
c.1512A>C (p.Glu504Asp)
c.1467A>C (p.Glu489Asp)
c.1290A>C (p.Glu430Asp)
c.1122A>C (p.Glu374Asp)
c.994-21280A>C (n.994-21280A>C)
18g.49118796T>ACA402507078DYMc.1859A>T (p.Glu620Val)
c.1694A>T (p.Glu565Val)
c.1124A>T (p.Glu375Val)
c.1691A>T (p.Glu564Val)
c.1526A>T (p.Glu509Val)
c.1564-21281A>T (n.1564-21281A>T)
c.1856A>T (p.Glu619Val)
c.1729-21281A>T (n.1729-21281A>T)
c.1688A>T (p.Glu563Val)
c.1514A>T (p.Glu505Val)
c.1561-21281A>T (n.1561-21281A>T)
c.1558-21281A>T (n.1558-21281A>T)
n.2051A>T
c.1853A>T (p.Glu618Val)
c.1733A>T (p.Glu578Val)
c.1568A>T (p.Glu523Val)
c.1511A>T (p.Glu504Val)
c.1466A>T (p.Glu489Val)
c.1289A>T (p.Glu430Val)
c.1121A>T (p.Glu374Val)
c.994-21281A>T (n.994-21281A>T)
18g.49118796T>CCA402507079DYMc.1859A>G (p.Glu620Gly)
c.1694A>G (p.Glu565Gly)
c.1124A>G (p.Glu375Gly)
c.1691A>G (p.Glu564Gly)
c.1526A>G (p.Glu509Gly)
c.1564-21281A>G (n.1564-21281A>G)
c.1856A>G (p.Glu619Gly)
c.1729-21281A>G (n.1729-21281A>G)
c.1688A>G (p.Glu563Gly)
c.1514A>G (p.Glu505Gly)
c.1561-21281A>G (n.1561-21281A>G)
c.1558-21281A>G (n.1558-21281A>G)
n.2051A>G
c.1853A>G (p.Glu618Gly)
c.1733A>G (p.Glu578Gly)
c.1568A>G (p.Glu523Gly)
c.1511A>G (p.Glu504Gly)
c.1466A>G (p.Glu489Gly)
c.1289A>G (p.Glu430Gly)
c.1121A>G (p.Glu374Gly)
c.994-21281A>G (n.994-21281A>G)
18g.49118796T>GCA402507077DYMc.1859A>C (p.Glu620Ala)
c.1694A>C (p.Glu565Ala)
c.1124A>C (p.Glu375Ala)
c.1691A>C (p.Glu564Ala)
c.1526A>C (p.Glu509Ala)
c.1564-21281A>C (n.1564-21281A>C)
c.1856A>C (p.Glu619Ala)
c.1729-21281A>C (n.1729-21281A>C)
c.1688A>C (p.Glu563Ala)
c.1514A>C (p.Glu505Ala)
c.1561-21281A>C (n.1561-21281A>C)
c.1558-21281A>C (n.1558-21281A>C)
n.2051A>C
c.1853A>C (p.Glu618Ala)
c.1733A>C (p.Glu578Ala)
c.1568A>C (p.Glu523Ala)
c.1511A>C (p.Glu504Ala)
c.1466A>C (p.Glu489Ala)
c.1289A>C (p.Glu430Ala)
c.1121A>C (p.Glu374Ala)
c.994-21281A>C (n.994-21281A>C)
18g.49118797C>ACA402507080DYMc.1858G>T (p.Glu620Ter)
c.1693G>T (p.Glu565Ter)
c.1123G>T (p.Glu375Ter)
c.1690G>T (p.Glu564Ter)
c.1525G>T (p.Glu509Ter)
c.1564-21282G>T (n.1564-21282G>T)
c.1855G>T (p.Glu619Ter)
c.1729-21282G>T (n.1729-21282G>T)
c.1687G>T (p.Glu563Ter)
c.1513G>T (p.Glu505Ter)
c.1561-21282G>T (n.1561-21282G>T)
c.1558-21282G>T (n.1558-21282G>T)
n.2050G>T
c.1852G>T (p.Glu618Ter)
c.1732G>T (p.Glu578Ter)
c.1567G>T (p.Glu523Ter)
c.1510G>T (p.Glu504Ter)
c.1465G>T (p.Glu489Ter)
c.1288G>T (p.Glu430Ter)
c.1120G>T (p.Glu374Ter)
c.994-21282G>T (n.994-21282G>T)
 gnomAD v4
18g.49118797C>GCA402507081DYMc.1858G>C (p.Glu620Gln)
c.1693G>C (p.Glu565Gln)
c.1123G>C (p.Glu375Gln)
c.1690G>C (p.Glu564Gln)
c.1525G>C (p.Glu509Gln)
c.1564-21282G>C (n.1564-21282G>C)
c.1855G>C (p.Glu619Gln)
c.1729-21282G>C (n.1729-21282G>C)
c.1687G>C (p.Glu563Gln)
c.1513G>C (p.Glu505Gln)
c.1561-21282G>C (n.1561-21282G>C)
c.1558-21282G>C (n.1558-21282G>C)
n.2050G>C
c.1852G>C (p.Glu618Gln)
c.1732G>C (p.Glu578Gln)
c.1567G>C (p.Glu523Gln)
c.1510G>C (p.Glu504Gln)
c.1465G>C (p.Glu489Gln)
c.1288G>C (p.Glu430Gln)
c.1120G>C (p.Glu374Gln)
c.994-21282G>C (n.994-21282G>C)
18g.49118797C>TCA402507082DYMc.1858G>A (p.Glu620Lys)
c.1693G>A (p.Glu565Lys)
c.1123G>A (p.Glu375Lys)
c.1690G>A (p.Glu564Lys)
c.1525G>A (p.Glu509Lys)
c.1564-21282G>A (n.1564-21282G>A)
c.1855G>A (p.Glu619Lys)
c.1729-21282G>A (n.1729-21282G>A)
c.1687G>A (p.Glu563Lys)
c.1513G>A (p.Glu505Lys)
c.1561-21282G>A (n.1561-21282G>A)
c.1558-21282G>A (n.1558-21282G>A)
n.2050G>A
c.1852G>A (p.Glu618Lys)
c.1732G>A (p.Glu578Lys)
c.1567G>A (p.Glu523Lys)
c.1510G>A (p.Glu504Lys)
c.1465G>A (p.Glu489Lys)
c.1288G>A (p.Glu430Lys)
c.1120G>A (p.Glu374Lys)
c.994-21282G>A (n.994-21282G>A)
18g.49118797_49118798delinsCACA2302066393DYMc.1857_1858delinsTG (p.Phe619=)
c.1692_1693delinsTG (p.Phe564=)
c.1122_1123delinsTG (p.Phe374=)
c.1689_1690delinsTG (p.Phe563=)
c.1524_1525delinsTG (p.Phe508=)
c.1564-21283_1564-21282delinsTG (n.1564-21283_1564-21282delinsTG)
c.1854_1855delinsTG (p.Phe618=)
c.1729-21283_1729-21282delinsTG (n.1729-21283_1729-21282delinsTG)
c.1686_1687delinsTG (p.Phe562=)
c.1512_1513delinsTG (p.Phe504=)
c.1561-21283_1561-21282delinsTG (n.1561-21283_1561-21282delinsTG)
c.1558-21283_1558-21282delinsTG (n.1558-21283_1558-21282delinsTG)
n.2049_2050delinsTG
c.1851_1852delinsTG (p.Phe617=)
c.1731_1732delinsTG (p.Phe577=)
c.1566_1567delinsTG (p.Phe522=)
c.1509_1510delinsTG (p.Phe503=)
c.1464_1465delinsTG (p.Phe488=)
c.1287_1288delinsTG (p.Phe429=)
c.1119_1120delinsTG (p.Phe373=)
c.994-21283_994-21282delinsTG (n.994-21283_994-21282delinsTG)
18g.49118798A=CA2302066394DYMc.1857T= (p.Phe619=)
c.1692T= (p.Phe564=)
c.1122T= (p.Phe374=)
c.1689T= (p.Phe563=)
c.1524T= (p.Phe508=)
c.1564-21283T= (n.1564-21283T=)
c.1854T= (p.Phe618=)
c.1729-21283T= (n.1729-21283T=)
c.1686T= (p.Phe562=)
c.1512T= (p.Phe504=)
c.1561-21283T= (n.1561-21283T=)
c.1558-21283T= (n.1558-21283T=)
n.2049T=
c.1851T= (p.Phe617=)
c.1731T= (p.Phe577=)
c.1566T= (p.Phe522=)
c.1509T= (p.Phe503=)
c.1464T= (p.Phe488=)
c.1287T= (p.Phe429=)
c.1119T= (p.Phe373=)
c.994-21283T= (n.994-21283T=)
18g.49118798A>CCA402507083DYMc.1857T>G (p.Phe619Leu)
c.1692T>G (p.Phe564Leu)
c.1122T>G (p.Phe374Leu)
c.1689T>G (p.Phe563Leu)
c.1524T>G (p.Phe508Leu)
c.1564-21283T>G (n.1564-21283T>G)
c.1854T>G (p.Phe618Leu)
c.1729-21283T>G (n.1729-21283T>G)
c.1686T>G (p.Phe562Leu)
c.1512T>G (p.Phe504Leu)
c.1561-21283T>G (n.1561-21283T>G)
c.1558-21283T>G (n.1558-21283T>G)
n.2049T>G
c.1851T>G (p.Phe617Leu)
c.1731T>G (p.Phe577Leu)
c.1566T>G (p.Phe522Leu)
c.1509T>G (p.Phe503Leu)
c.1464T>G (p.Phe488Leu)
c.1287T>G (p.Phe429Leu)
c.1119T>G (p.Phe373Leu)
c.994-21283T>G (n.994-21283T>G)
 dbSNP
18g.49118798A>GCA503936316DYMc.1857T>C (p.Phe619=)
c.1692T>C (p.Phe564=)
c.1122T>C (p.Phe374=)
c.1689T>C (p.Phe563=)
c.1524T>C (p.Phe508=)
c.1564-21283T>C (n.1564-21283T>C)
c.1854T>C (p.Phe618=)
c.1729-21283T>C (n.1729-21283T>C)
c.1686T>C (p.Phe562=)
c.1512T>C (p.Phe504=)
c.1561-21283T>C (n.1561-21283T>C)
c.1558-21283T>C (n.1558-21283T>C)
n.2049T>C
c.1851T>C (p.Phe617=)
c.1731T>C (p.Phe577=)
c.1566T>C (p.Phe522=)
c.1509T>C (p.Phe503=)
c.1464T>C (p.Phe488=)
c.1287T>C (p.Phe429=)
c.1119T>C (p.Phe373=)
c.994-21283T>C (n.994-21283T>C)
18g.49118798A>TCA402507084DYMc.1857T>A (p.Phe619Leu)
c.1692T>A (p.Phe564Leu)
c.1122T>A (p.Phe374Leu)
c.1689T>A (p.Phe563Leu)
c.1524T>A (p.Phe508Leu)
c.1564-21283T>A (n.1564-21283T>A)
c.1854T>A (p.Phe618Leu)
c.1729-21283T>A (n.1729-21283T>A)
c.1686T>A (p.Phe562Leu)
c.1512T>A (p.Phe504Leu)
c.1561-21283T>A (n.1561-21283T>A)
c.1558-21283T>A (n.1558-21283T>A)
n.2049T>A
c.1851T>A (p.Phe617Leu)
c.1731T>A (p.Phe577Leu)
c.1566T>A (p.Phe522Leu)
c.1509T>A (p.Phe503Leu)
c.1464T>A (p.Phe488Leu)
c.1287T>A (p.Phe429Leu)
c.1119T>A (p.Phe373Leu)
c.994-21283T>A (n.994-21283T>A)
18g.49118800delCA300360638DYMc.1857del (p.Phe619LeufsTer13)
c.1692del (p.Phe564LeufsTer13)
c.1122del (p.Phe374LeufsTer13)
c.1689del (p.Phe563LeufsTer13)
c.1524del (p.Phe508LeufsTer13)
c.1564-21283del (n.1564-21283del)
c.1854del (p.Phe618LeufsTer13)
c.1729-21283del (n.1729-21283del)
c.1686del (p.Phe562LeufsTer13)
c.1512del (p.Phe504LeufsTer13)
c.1561-21283del (n.1561-21283del)
c.1558-21283del (n.1558-21283del)
n.2049del
c.1851del (p.Phe617LeufsTer13)
c.1731del (p.Phe577LeufsTer13)
c.1566del (p.Phe522LeufsTer13)
c.1509del (p.Phe503LeufsTer13)
c.1464del (p.Phe488LeufsTer13)
c.1287del (p.Phe429LeufsTer13)
c.1119del (p.Phe373LeufsTer13)
c.994-21283del (n.994-21283del)
 dbSNP
18g.49118799_49118800delCA2641764524DYMc.1856_1857del (p.Phe619Ter)
c.1691_1692del (p.Phe564Ter)
c.1121_1122del (p.Phe374Ter)
c.1688_1689del (p.Phe563Ter)
c.1523_1524del (p.Phe508Ter)
c.1564-21284_1564-21283del (n.1564-21284_1564-21283del)
c.1853_1854del (p.Phe618Ter)
c.1729-21284_1729-21283del (n.1729-21284_1729-21283del)
c.1685_1686del (p.Phe562Ter)
c.1511_1512del (p.Phe504Ter)
c.1561-21284_1561-21283del (n.1561-21284_1561-21283del)
c.1558-21284_1558-21283del (n.1558-21284_1558-21283del)
n.2048_2049del
c.1850_1851del (p.Phe617Ter)
c.1730_1731del (p.Phe577Ter)
c.1565_1566del (p.Phe522Ter)
c.1508_1509del (p.Phe503Ter)
c.1463_1464del (p.Phe488Ter)
c.1286_1287del (p.Phe429Ter)
c.1118_1119del (p.Phe373Ter)
c.994-21284_994-21283del (n.994-21284_994-21283del)
 gnomAD v4
18g.49118799A>CCA402507085DYMc.1856T>G (p.Phe619Cys)
c.1691T>G (p.Phe564Cys)
c.1121T>G (p.Phe374Cys)
c.1688T>G (p.Phe563Cys)
c.1523T>G (p.Phe508Cys)
c.1564-21284T>G (n.1564-21284T>G)
c.1853T>G (p.Phe618Cys)
c.1729-21284T>G (n.1729-21284T>G)
c.1685T>G (p.Phe562Cys)
c.1511T>G (p.Phe504Cys)
c.1561-21284T>G (n.1561-21284T>G)
c.1558-21284T>G (n.1558-21284T>G)
n.2048T>G
c.1850T>G (p.Phe617Cys)
c.1730T>G (p.Phe577Cys)
c.1565T>G (p.Phe522Cys)
c.1508T>G (p.Phe503Cys)
c.1463T>G (p.Phe488Cys)
c.1286T>G (p.Phe429Cys)
c.1118T>G (p.Phe373Cys)
c.994-21284T>G (n.994-21284T>G)
 gnomAD v4
18g.49118799A>GCA402507086DYMc.1856T>C (p.Phe619Ser)
c.1691T>C (p.Phe564Ser)
c.1121T>C (p.Phe374Ser)
c.1688T>C (p.Phe563Ser)
c.1523T>C (p.Phe508Ser)
c.1564-21284T>C (n.1564-21284T>C)
c.1853T>C (p.Phe618Ser)
c.1729-21284T>C (n.1729-21284T>C)
c.1685T>C (p.Phe562Ser)
c.1511T>C (p.Phe504Ser)
c.1561-21284T>C (n.1561-21284T>C)
c.1558-21284T>C (n.1558-21284T>C)
n.2048T>C
c.1850T>C (p.Phe617Ser)
c.1730T>C (p.Phe577Ser)
c.1565T>C (p.Phe522Ser)
c.1508T>C (p.Phe503Ser)
c.1463T>C (p.Phe488Ser)
c.1286T>C (p.Phe429Ser)
c.1118T>C (p.Phe373Ser)
c.994-21284T>C (n.994-21284T>C)
18g.49118799A>TCA402507087DYMc.1856T>A (p.Phe619Tyr)
c.1691T>A (p.Phe564Tyr)
c.1121T>A (p.Phe374Tyr)
c.1688T>A (p.Phe563Tyr)
c.1523T>A (p.Phe508Tyr)
c.1564-21284T>A (n.1564-21284T>A)
c.1853T>A (p.Phe618Tyr)
c.1729-21284T>A (n.1729-21284T>A)
c.1685T>A (p.Phe562Tyr)
c.1511T>A (p.Phe504Tyr)
c.1561-21284T>A (n.1561-21284T>A)
c.1558-21284T>A (n.1558-21284T>A)
n.2048T>A
c.1850T>A (p.Phe617Tyr)
c.1730T>A (p.Phe577Tyr)
c.1565T>A (p.Phe522Tyr)
c.1508T>A (p.Phe503Tyr)
c.1463T>A (p.Phe488Tyr)
c.1286T>A (p.Phe429Tyr)
c.1118T>A (p.Phe373Tyr)
c.994-21284T>A (n.994-21284T>A)
18g.49118800A>CCA402507088DYMc.1855T>G (p.Phe619Val)
c.1690T>G (p.Phe564Val)
c.1120T>G (p.Phe374Val)
c.1687T>G (p.Phe563Val)
c.1522T>G (p.Phe508Val)
c.1564-21285T>G (n.1564-21285T>G)
c.1852T>G (p.Phe618Val)
c.1729-21285T>G (n.1729-21285T>G)
c.1684T>G (p.Phe562Val)
c.1510T>G (p.Phe504Val)
c.1561-21285T>G (n.1561-21285T>G)
c.1558-21285T>G (n.1558-21285T>G)
n.2047T>G
c.1849T>G (p.Phe617Val)
c.1729T>G (p.Phe577Val)
c.1564T>G (p.Phe522Val)
c.1507T>G (p.Phe503Val)
c.1462T>G (p.Phe488Val)
c.1285T>G (p.Phe429Val)
c.1117T>G (p.Phe373Val)
c.994-21285T>G (n.994-21285T>G)
18g.49118800A>GCA402507089DYMc.1855T>C (p.Phe619Leu)
c.1690T>C (p.Phe564Leu)
c.1120T>C (p.Phe374Leu)
c.1687T>C (p.Phe563Leu)
c.1522T>C (p.Phe508Leu)
c.1564-21285T>C (n.1564-21285T>C)
c.1852T>C (p.Phe618Leu)
c.1729-21285T>C (n.1729-21285T>C)
c.1684T>C (p.Phe562Leu)
c.1510T>C (p.Phe504Leu)
c.1561-21285T>C (n.1561-21285T>C)
c.1558-21285T>C (n.1558-21285T>C)
n.2047T>C
c.1849T>C (p.Phe617Leu)
c.1729T>C (p.Phe577Leu)
c.1564T>C (p.Phe522Leu)
c.1507T>C (p.Phe503Leu)
c.1462T>C (p.Phe488Leu)
c.1285T>C (p.Phe429Leu)
c.1117T>C (p.Phe373Leu)
c.994-21285T>C (n.994-21285T>C)
 gnomAD v4
18g.49118800A>TCA402507090DYMc.1855T>A (p.Phe619Ile)
c.1690T>A (p.Phe564Ile)
c.1120T>A (p.Phe374Ile)
c.1687T>A (p.Phe563Ile)
c.1522T>A (p.Phe508Ile)
c.1564-21285T>A (n.1564-21285T>A)
c.1852T>A (p.Phe618Ile)
c.1729-21285T>A (n.1729-21285T>A)
c.1684T>A (p.Phe562Ile)
c.1510T>A (p.Phe504Ile)
c.1561-21285T>A (n.1561-21285T>A)
c.1558-21285T>A (n.1558-21285T>A)
n.2047T>A
c.1849T>A (p.Phe617Ile)
c.1729T>A (p.Phe577Ile)
c.1564T>A (p.Phe522Ile)
c.1507T>A (p.Phe503Ile)
c.1462T>A (p.Phe488Ile)
c.1285T>A (p.Phe429Ile)
c.1117T>A (p.Phe373Ile)
c.994-21285T>A (n.994-21285T>A)
18g.49118801G>ACA503936320DYMc.1854C>T (p.Leu618=)
c.1689C>T (p.Leu563=)
c.1119C>T (p.Leu373=)
c.1686C>T (p.Leu562=)
c.1521C>T (p.Leu507=)
c.1564-21286C>T (n.1564-21286C>T)
c.1851C>T (p.Leu617=)
c.1729-21286C>T (n.1729-21286C>T)
c.1683C>T (p.Leu561=)
c.1509C>T (p.Leu503=)
c.1561-21286C>T (n.1561-21286C>T)
c.1558-21286C>T (n.1558-21286C>T)
n.2046C>T
c.1848C>T (p.Leu616=)
c.1728C>T (p.Leu576=)
c.1563C>T (p.Leu521=)
c.1506C>T (p.Leu502=)
c.1461C>T (p.Leu487=)
c.1284C>T (p.Leu428=)
c.1116C>T (p.Leu372=)
c.994-21286C>T (n.994-21286C>T)
18g.49118801G>CCA503936321DYMc.1854C>G (p.Leu618=)
c.1689C>G (p.Leu563=)
c.1119C>G (p.Leu373=)
c.1686C>G (p.Leu562=)
c.1521C>G (p.Leu507=)
c.1564-21286C>G (n.1564-21286C>G)
c.1851C>G (p.Leu617=)
c.1729-21286C>G (n.1729-21286C>G)
c.1683C>G (p.Leu561=)
c.1509C>G (p.Leu503=)
c.1561-21286C>G (n.1561-21286C>G)
c.1558-21286C>G (n.1558-21286C>G)
n.2046C>G
c.1848C>G (p.Leu616=)
c.1728C>G (p.Leu576=)
c.1563C>G (p.Leu521=)
c.1506C>G (p.Leu502=)
c.1461C>G (p.Leu487=)
c.1284C>G (p.Leu428=)
c.1116C>G (p.Leu372=)
c.994-21286C>G (n.994-21286C>G)
18g.49118801G>TCA503936322DYMc.1854C>A (p.Leu618=)
c.1689C>A (p.Leu563=)
c.1119C>A (p.Leu373=)
c.1686C>A (p.Leu562=)
c.1521C>A (p.Leu507=)
c.1564-21286C>A (n.1564-21286C>A)
c.1851C>A (p.Leu617=)
c.1729-21286C>A (n.1729-21286C>A)
c.1683C>A (p.Leu561=)
c.1509C>A (p.Leu503=)
c.1561-21286C>A (n.1561-21286C>A)
c.1558-21286C>A (n.1558-21286C>A)
n.2046C>A
c.1848C>A (p.Leu616=)
c.1728C>A (p.Leu576=)
c.1563C>A (p.Leu521=)
c.1506C>A (p.Leu502=)
c.1461C>A (p.Leu487=)
c.1284C>A (p.Leu428=)
c.1116C>A (p.Leu372=)
c.994-21286C>A (n.994-21286C>A)
18g.49118802A>CCA402507093DYMc.1853T>G (p.Leu618Arg)
c.1688T>G (p.Leu563Arg)
c.1118T>G (p.Leu373Arg)
c.1685T>G (p.Leu562Arg)
c.1520T>G (p.Leu507Arg)
c.1564-21287T>G (n.1564-21287T>G)
c.1850T>G (p.Leu617Arg)
c.1729-21287T>G (n.1729-21287T>G)
c.1682T>G (p.Leu561Arg)
c.1508T>G (p.Leu503Arg)
c.1561-21287T>G (n.1561-21287T>G)
c.1558-21287T>G (n.1558-21287T>G)
n.2045T>G
c.1847T>G (p.Leu616Arg)
c.1727T>G (p.Leu576Arg)
c.1562T>G (p.Leu521Arg)
c.1505T>G (p.Leu502Arg)
c.1460T>G (p.Leu487Arg)
c.1283T>G (p.Leu428Arg)
c.1115T>G (p.Leu372Arg)
c.994-21287T>G (n.994-21287T>G)
18g.49118802A>GCA402507092DYMc.1853T>C (p.Leu618Pro)
c.1688T>C (p.Leu563Pro)
c.1118T>C (p.Leu373Pro)
c.1685T>C (p.Leu562Pro)
c.1520T>C (p.Leu507Pro)
c.1564-21287T>C (n.1564-21287T>C)
c.1850T>C (p.Leu617Pro)
c.1729-21287T>C (n.1729-21287T>C)
c.1682T>C (p.Leu561Pro)
c.1508T>C (p.Leu503Pro)
c.1561-21287T>C (n.1561-21287T>C)
c.1558-21287T>C (n.1558-21287T>C)
n.2045T>C
c.1847T>C (p.Leu616Pro)
c.1727T>C (p.Leu576Pro)
c.1562T>C (p.Leu521Pro)
c.1505T>C (p.Leu502Pro)
c.1460T>C (p.Leu487Pro)
c.1283T>C (p.Leu428Pro)
c.1115T>C (p.Leu372Pro)
c.994-21287T>C (n.994-21287T>C)
18g.49118802A>TCA402507091DYMc.1853T>A (p.Leu618His)
c.1688T>A (p.Leu563His)
c.1118T>A (p.Leu373His)
c.1685T>A (p.Leu562His)
c.1520T>A (p.Leu507His)
c.1564-21287T>A (n.1564-21287T>A)
c.1850T>A (p.Leu617His)
c.1729-21287T>A (n.1729-21287T>A)
c.1682T>A (p.Leu561His)
c.1508T>A (p.Leu503His)
c.1561-21287T>A (n.1561-21287T>A)
c.1558-21287T>A (n.1558-21287T>A)
n.2045T>A
c.1847T>A (p.Leu616His)
c.1727T>A (p.Leu576His)
c.1562T>A (p.Leu521His)
c.1505T>A (p.Leu502His)
c.1460T>A (p.Leu487His)
c.1283T>A (p.Leu428His)
c.1115T>A (p.Leu372His)
c.994-21287T>A (n.994-21287T>A)
18g.49118803G>ACA402507094DYMc.1852C>T (p.Leu618Phe)
c.1687C>T (p.Leu563Phe)
c.1117C>T (p.Leu373Phe)
c.1684C>T (p.Leu562Phe)
c.1519C>T (p.Leu507Phe)
c.1564-21288C>T (n.1564-21288C>T)
c.1849C>T (p.Leu617Phe)
c.1729-21288C>T (n.1729-21288C>T)
c.1681C>T (p.Leu561Phe)
c.1507C>T (p.Leu503Phe)
c.1561-21288C>T (n.1561-21288C>T)
c.1558-21288C>T (n.1558-21288C>T)
n.2044C>T
c.1846C>T (p.Leu616Phe)
c.1726C>T (p.Leu576Phe)
c.1561C>T (p.Leu521Phe)
c.1504C>T (p.Leu502Phe)
c.1459C>T (p.Leu487Phe)
c.1282C>T (p.Leu428Phe)
c.1114C>T (p.Leu372Phe)
c.994-21288C>T (n.994-21288C>T)
18g.49118803G>CCA402507095DYMc.1852C>G (p.Leu618Val)
c.1687C>G (p.Leu563Val)
c.1117C>G (p.Leu373Val)
c.1684C>G (p.Leu562Val)
c.1519C>G (p.Leu507Val)
c.1564-21288C>G (n.1564-21288C>G)
c.1849C>G (p.Leu617Val)
c.1729-21288C>G (n.1729-21288C>G)
c.1681C>G (p.Leu561Val)
c.1507C>G (p.Leu503Val)
c.1561-21288C>G (n.1561-21288C>G)
c.1558-21288C>G (n.1558-21288C>G)
n.2044C>G
c.1846C>G (p.Leu616Val)
c.1726C>G (p.Leu576Val)
c.1561C>G (p.Leu521Val)
c.1504C>G (p.Leu502Val)
c.1459C>G (p.Leu487Val)
c.1282C>G (p.Leu428Val)
c.1114C>G (p.Leu372Val)
c.994-21288C>G (n.994-21288C>G)
18g.49118803G>TCA402507096DYMc.1852C>A (p.Leu618Ile)
c.1687C>A (p.Leu563Ile)
c.1117C>A (p.Leu373Ile)
c.1684C>A (p.Leu562Ile)
c.1519C>A (p.Leu507Ile)
c.1564-21288C>A (n.1564-21288C>A)
c.1849C>A (p.Leu617Ile)
c.1729-21288C>A (n.1729-21288C>A)
c.1681C>A (p.Leu561Ile)
c.1507C>A (p.Leu503Ile)
c.1561-21288C>A (n.1561-21288C>A)
c.1558-21288C>A (n.1558-21288C>A)
n.2044C>A
c.1846C>A (p.Leu616Ile)
c.1726C>A (p.Leu576Ile)
c.1561C>A (p.Leu521Ile)
c.1504C>A (p.Leu502Ile)
c.1459C>A (p.Leu487Ile)
c.1282C>A (p.Leu428Ile)
c.1114C>A (p.Leu372Ile)
c.994-21288C>A (n.994-21288C>A)
18g.49118804A>CCA402507097DYMc.1851T>G (p.Asp617Glu)
c.1686T>G (p.Asp562Glu)
c.1116T>G (p.Asp372Glu)
c.1683T>G (p.Asp561Glu)
c.1518T>G (p.Asp506Glu)
c.1564-21289T>G (n.1564-21289T>G)
c.1848T>G (p.Asp616Glu)
c.1729-21289T>G (n.1729-21289T>G)
c.1680T>G (p.Asp560Glu)
c.1506T>G (p.Asp502Glu)
c.1561-21289T>G (n.1561-21289T>G)
c.1558-21289T>G (n.1558-21289T>G)
n.2043T>G
c.1845T>G (p.Asp615Glu)
c.1725T>G (p.Asp575Glu)
c.1560T>G (p.Asp520Glu)
c.1503T>G (p.Asp501Glu)
c.1458T>G (p.Asp486Glu)
c.1281T>G (p.Asp427Glu)
c.1113T>G (p.Asp371Glu)
c.994-21289T>G (n.994-21289T>G)
18g.49118804A>GCA503936325DYMc.1851T>C (p.Asp617=)
c.1686T>C (p.Asp562=)
c.1116T>C (p.Asp372=)
c.1683T>C (p.Asp561=)
c.1518T>C (p.Asp506=)
c.1564-21289T>C (n.1564-21289T>C)
c.1848T>C (p.Asp616=)
c.1729-21289T>C (n.1729-21289T>C)
c.1680T>C (p.Asp560=)
c.1506T>C (p.Asp502=)
c.1561-21289T>C (n.1561-21289T>C)
c.1558-21289T>C (n.1558-21289T>C)
n.2043T>C
c.1845T>C (p.Asp615=)
c.1725T>C (p.Asp575=)
c.1560T>C (p.Asp520=)
c.1503T>C (p.Asp501=)
c.1458T>C (p.Asp486=)
c.1281T>C (p.Asp427=)
c.1113T>C (p.Asp371=)
c.994-21289T>C (n.994-21289T>C)
18g.49118804A>TCA402507098DYMc.1851T>A (p.Asp617Glu)
c.1686T>A (p.Asp562Glu)
c.1116T>A (p.Asp372Glu)
c.1683T>A (p.Asp561Glu)
c.1518T>A (p.Asp506Glu)
c.1564-21289T>A (n.1564-21289T>A)
c.1848T>A (p.Asp616Glu)
c.1729-21289T>A (n.1729-21289T>A)
c.1680T>A (p.Asp560Glu)
c.1506T>A (p.Asp502Glu)
c.1561-21289T>A (n.1561-21289T>A)
c.1558-21289T>A (n.1558-21289T>A)
n.2043T>A
c.1845T>A (p.Asp615Glu)
c.1725T>A (p.Asp575Glu)
c.1560T>A (p.Asp520Glu)
c.1503T>A (p.Asp501Glu)
c.1458T>A (p.Asp486Glu)
c.1281T>A (p.Asp427Glu)
c.1113T>A (p.Asp371Glu)
c.994-21289T>A (n.994-21289T>A)
18g.49118805T>ACA402507099DYMc.1850A>T (p.Asp617Val)
c.1685A>T (p.Asp562Val)
c.1115A>T (p.Asp372Val)
c.1682A>T (p.Asp561Val)
c.1517A>T (p.Asp506Val)
c.1564-21290A>T (n.1564-21290A>T)
c.1847A>T (p.Asp616Val)
c.1729-21290A>T (n.1729-21290A>T)
c.1679A>T (p.Asp560Val)
c.1505A>T (p.Asp502Val)
c.1561-21290A>T (n.1561-21290A>T)
c.1558-21290A>T (n.1558-21290A>T)
n.2042A>T
c.1844A>T (p.Asp615Val)
c.1724A>T (p.Asp575Val)
c.1559A>T (p.Asp520Val)
c.1502A>T (p.Asp501Val)
c.1457A>T (p.Asp486Val)
c.1280A>T (p.Asp427Val)
c.1112A>T (p.Asp371Val)
c.994-21290A>T (n.994-21290A>T)
18g.49118805T>CCA402507100DYMc.1850A>G (p.Asp617Gly)
c.1685A>G (p.Asp562Gly)
c.1115A>G (p.Asp372Gly)
c.1682A>G (p.Asp561Gly)
c.1517A>G (p.Asp506Gly)
c.1564-21290A>G (n.1564-21290A>G)
c.1847A>G (p.Asp616Gly)
c.1729-21290A>G (n.1729-21290A>G)
c.1679A>G (p.Asp560Gly)
c.1505A>G (p.Asp502Gly)
c.1561-21290A>G (n.1561-21290A>G)
c.1558-21290A>G (n.1558-21290A>G)
n.2042A>G
c.1844A>G (p.Asp615Gly)
c.1724A>G (p.Asp575Gly)
c.1559A>G (p.Asp520Gly)
c.1502A>G (p.Asp501Gly)
c.1457A>G (p.Asp486Gly)
c.1280A>G (p.Asp427Gly)
c.1112A>G (p.Asp371Gly)
c.994-21290A>G (n.994-21290A>G)
18g.49118805T>GCA402507101DYMc.1850A>C (p.Asp617Ala)
c.1685A>C (p.Asp562Ala)
c.1115A>C (p.Asp372Ala)
c.1682A>C (p.Asp561Ala)
c.1517A>C (p.Asp506Ala)
c.1564-21290A>C (n.1564-21290A>C)
c.1847A>C (p.Asp616Ala)
c.1729-21290A>C (n.1729-21290A>C)
c.1679A>C (p.Asp560Ala)
c.1505A>C (p.Asp502Ala)
c.1561-21290A>C (n.1561-21290A>C)
c.1558-21290A>C (n.1558-21290A>C)
n.2042A>C
c.1844A>C (p.Asp615Ala)
c.1724A>C (p.Asp575Ala)
c.1559A>C (p.Asp520Ala)
c.1502A>C (p.Asp501Ala)
c.1457A>C (p.Asp486Ala)
c.1280A>C (p.Asp427Ala)
c.1112A>C (p.Asp371Ala)
c.994-21290A>C (n.994-21290A>C)
18g.49118805_49118808dupCA2641764525DYMc.1847_1850dup (p.Asp617GlufsTer5)
c.1682_1685dup (p.Asp562GlufsTer5)
c.1112_1115dup (p.Asp372GlufsTer5)
c.1679_1682dup (p.Asp561GlufsTer5)
c.1514_1517dup (p.Asp506GlufsTer5)
c.1564-21293_1564-21290dup (n.1564-21293_1564-21290dup)
c.1844_1847dup (p.Asp616GlufsTer5)
c.1729-21293_1729-21290dup (n.1729-21293_1729-21290dup)
c.1676_1679dup (p.Asp560GlufsTer5)
c.1502_1505dup (p.Asp502GlufsTer5)
c.1561-21293_1561-21290dup (n.1561-21293_1561-21290dup)
c.1558-21293_1558-21290dup (n.1558-21293_1558-21290dup)
n.2039_2042dup
c.1841_1844dup (p.Asp615GlufsTer5)
c.1721_1724dup (p.Asp575GlufsTer5)
c.1556_1559dup (p.Asp520GlufsTer5)
c.1499_1502dup (p.Asp501GlufsTer5)
c.1454_1457dup (p.Asp486GlufsTer5)
c.1277_1280dup (p.Asp427GlufsTer5)
c.1109_1112dup (p.Asp371GlufsTer5)
c.994-21293_994-21290dup (n.994-21293_994-21290dup)
 gnomAD v4
18g.49118806C>ACA402507102DYMc.1849G>T (p.Asp617Tyr)
c.1684G>T (p.Asp562Tyr)
c.1114G>T (p.Asp372Tyr)
c.1681G>T (p.Asp561Tyr)
c.1516G>T (p.Asp506Tyr)
c.1564-21291G>T (n.1564-21291G>T)
c.1846G>T (p.Asp616Tyr)
c.1729-21291G>T (n.1729-21291G>T)
c.1678G>T (p.Asp560Tyr)
c.1504G>T (p.Asp502Tyr)
c.1561-21291G>T (n.1561-21291G>T)
c.1558-21291G>T (n.1558-21291G>T)
n.2041G>T
c.1843G>T (p.Asp615Tyr)
c.1723G>T (p.Asp575Tyr)
c.1558G>T (p.Asp520Tyr)
c.1501G>T (p.Asp501Tyr)
c.1456G>T (p.Asp486Tyr)
c.1279G>T (p.Asp427Tyr)
c.1111G>T (p.Asp371Tyr)
c.994-21291G>T (n.994-21291G>T)
 COSMIC
18g.49118806C=CA2302066395DYMc.1849G= (p.Asp617=)
c.1684G= (p.Asp562=)
c.1114G= (p.Asp372=)
c.1681G= (p.Asp561=)
c.1516G= (p.Asp506=)
c.1564-21291G= (n.1564-21291G=)
c.1846G= (p.Asp616=)
c.1729-21291G= (n.1729-21291G=)
c.1678G= (p.Asp560=)
c.1504G= (p.Asp502=)
c.1561-21291G= (n.1561-21291G=)
c.1558-21291G= (n.1558-21291G=)
n.2041G=
c.1843G= (p.Asp615=)
c.1723G= (p.Asp575=)
c.1558G= (p.Asp520=)
c.1501G= (p.Asp501=)
c.1456G= (p.Asp486=)
c.1279G= (p.Asp427=)
c.1111G= (p.Asp371=)
c.994-21291G= (n.994-21291G=)
18g.49118806C>GCA402507103DYMc.1849G>C (p.Asp617His)
c.1684G>C (p.Asp562His)
c.1114G>C (p.Asp372His)
c.1681G>C (p.Asp561His)
c.1516G>C (p.Asp506His)
c.1564-21291G>C (n.1564-21291G>C)
c.1846G>C (p.Asp616His)
c.1729-21291G>C (n.1729-21291G>C)
c.1678G>C (p.Asp560His)
c.1504G>C (p.Asp502His)
c.1561-21291G>C (n.1561-21291G>C)
c.1558-21291G>C (n.1558-21291G>C)
n.2041G>C
c.1843G>C (p.Asp615His)
c.1723G>C (p.Asp575His)
c.1558G>C (p.Asp520His)
c.1501G>C (p.Asp501His)
c.1456G>C (p.Asp486His)
c.1279G>C (p.Asp427His)
c.1111G>C (p.Asp371His)
c.994-21291G>C (n.994-21291G>C)
18g.49118806C>TCA8958007DYMc.1849G>A (p.Asp617Asn)
c.1684G>A (p.Asp562Asn)
c.1114G>A (p.Asp372Asn)
c.1681G>A (p.Asp561Asn)
c.1516G>A (p.Asp506Asn)
c.1564-21291G>A (n.1564-21291G>A)
c.1846G>A (p.Asp616Asn)
c.1729-21291G>A (n.1729-21291G>A)
c.1678G>A (p.Asp560Asn)
c.1504G>A (p.Asp502Asn)
c.1561-21291G>A (n.1561-21291G>A)
c.1558-21291G>A (n.1558-21291G>A)
n.2041G>A
c.1843G>A (p.Asp615Asn)
c.1723G>A (p.Asp575Asn)
c.1558G>A (p.Asp520Asn)
c.1501G>A (p.Asp501Asn)
c.1456G>A (p.Asp486Asn)
c.1279G>A (p.Asp427Asn)
c.1111G>A (p.Asp371Asn)
c.994-21291G>A (n.994-21291G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
18g.49118807G>ACA8958008DYMc.1848C>T (p.Arg616=)
c.1683C>T (p.Arg561=)
c.1113C>T (p.Arg371=)
c.1680C>T (p.Arg560=)
c.1515C>T (p.Arg505=)
c.1564-21292C>T (n.1564-21292C>T)
c.1845C>T (p.Arg615=)
c.1729-21292C>T (n.1729-21292C>T)
c.1677C>T (p.Arg559=)
c.1503C>T (p.Arg501=)
c.1561-21292C>T (n.1561-21292C>T)
c.1558-21292C>T (n.1558-21292C>T)
n.2040C>T
c.1842C>T (p.Arg614=)
c.1722C>T (p.Arg574=)
c.1557C>T (p.Arg519=)
c.1500C>T (p.Arg500=)
c.1455C>T (p.Arg485=)
c.1278C>T (p.Arg426=)
c.1110C>T (p.Arg370=)
c.994-21292C>T (n.994-21292C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.49118807G>CCA503936327DYMc.1848C>G (p.Arg616=)
c.1683C>G (p.Arg561=)
c.1113C>G (p.Arg371=)
c.1680C>G (p.Arg560=)
c.1515C>G (p.Arg505=)
c.1564-21292C>G (n.1564-21292C>G)
c.1845C>G (p.Arg615=)
c.1729-21292C>G (n.1729-21292C>G)
c.1677C>G (p.Arg559=)
c.1503C>G (p.Arg501=)
c.1561-21292C>G (n.1561-21292C>G)
c.1558-21292C>G (n.1558-21292C>G)
n.2040C>G
c.1842C>G (p.Arg614=)
c.1722C>G (p.Arg574=)
c.1557C>G (p.Arg519=)
c.1500C>G (p.Arg500=)
c.1455C>G (p.Arg485=)
c.1278C>G (p.Arg426=)
c.1110C>G (p.Arg370=)
c.994-21292C>G (n.994-21292C>G)
18g.49118807G=CA2302066396DYMc.1848C= (p.Arg616=)
c.1683C= (p.Arg561=)
c.1113C= (p.Arg371=)
c.1680C= (p.Arg560=)
c.1515C= (p.Arg505=)
c.1564-21292C= (n.1564-21292C=)
c.1845C= (p.Arg615=)
c.1729-21292C= (n.1729-21292C=)
c.1677C= (p.Arg559=)
c.1503C= (p.Arg501=)
c.1561-21292C= (n.1561-21292C=)
c.1558-21292C= (n.1558-21292C=)
n.2040C=
c.1842C= (p.Arg614=)
c.1722C= (p.Arg574=)
c.1557C= (p.Arg519=)
c.1500C= (p.Arg500=)
c.1455C= (p.Arg485=)
c.1278C= (p.Arg426=)
c.1110C= (p.Arg370=)
c.994-21292C= (n.994-21292C=)
18g.49118807G>TCA503936328DYMc.1848C>A (p.Arg616=)
c.1683C>A (p.Arg561=)
c.1113C>A (p.Arg371=)
c.1680C>A (p.Arg560=)
c.1515C>A (p.Arg505=)
c.1564-21292C>A (n.1564-21292C>A)
c.1845C>A (p.Arg615=)
c.1729-21292C>A (n.1729-21292C>A)
c.1677C>A (p.Arg559=)
c.1503C>A (p.Arg501=)
c.1561-21292C>A (n.1561-21292C>A)
c.1558-21292C>A (n.1558-21292C>A)
n.2040C>A
c.1842C>A (p.Arg614=)
c.1722C>A (p.Arg574=)
c.1557C>A (p.Arg519=)
c.1500C>A (p.Arg500=)
c.1455C>A (p.Arg485=)
c.1278C>A (p.Arg426=)
c.1110C>A (p.Arg370=)
c.994-21292C>A (n.994-21292C>A)
18g.49118808C>ACA402507105DYMc.1847G>T (p.Arg616Leu)
c.1682G>T (p.Arg561Leu)
c.1112G>T (p.Arg371Leu)
c.1679G>T (p.Arg560Leu)
c.1514G>T (p.Arg505Leu)
c.1564-21293G>T (n.1564-21293G>T)
c.1844G>T (p.Arg615Leu)
c.1729-21293G>T (n.1729-21293G>T)
c.1676G>T (p.Arg559Leu)
c.1502G>T (p.Arg501Leu)
c.1561-21293G>T (n.1561-21293G>T)
c.1558-21293G>T (n.1558-21293G>T)
n.2039G>T
c.1841G>T (p.Arg614Leu)
c.1721G>T (p.Arg574Leu)
c.1556G>T (p.Arg519Leu)
c.1499G>T (p.Arg500Leu)
c.1454G>T (p.Arg485Leu)
c.1277G>T (p.Arg426Leu)
c.1109G>T (p.Arg370Leu)
c.994-21293G>T (n.994-21293G>T)
18g.49118808C=CA2302066397DYMc.1847G= (p.Arg616=)
c.1682G= (p.Arg561=)
c.1112G= (p.Arg371=)
c.1679G= (p.Arg560=)
c.1514G= (p.Arg505=)
c.1564-21293G= (n.1564-21293G=)
c.1844G= (p.Arg615=)
c.1729-21293G= (n.1729-21293G=)
c.1676G= (p.Arg559=)
c.1502G= (p.Arg501=)
c.1561-21293G= (n.1561-21293G=)
c.1558-21293G= (n.1558-21293G=)
n.2039G=
c.1841G= (p.Arg614=)
c.1721G= (p.Arg574=)
c.1556G= (p.Arg519=)
c.1499G= (p.Arg500=)
c.1454G= (p.Arg485=)
c.1277G= (p.Arg426=)
c.1109G= (p.Arg370=)
c.994-21293G= (n.994-21293G=)
18g.49118808C>GCA402507104DYMc.1847G>C (p.Arg616Pro)
c.1682G>C (p.Arg561Pro)
c.1112G>C (p.Arg371Pro)
c.1679G>C (p.Arg560Pro)
c.1514G>C (p.Arg505Pro)
c.1564-21293G>C (n.1564-21293G>C)
c.1844G>C (p.Arg615Pro)
c.1729-21293G>C (n.1729-21293G>C)
c.1676G>C (p.Arg559Pro)
c.1502G>C (p.Arg501Pro)
c.1561-21293G>C (n.1561-21293G>C)
c.1558-21293G>C (n.1558-21293G>C)
n.2039G>C
c.1841G>C (p.Arg614Pro)
c.1721G>C (p.Arg574Pro)
c.1556G>C (p.Arg519Pro)
c.1499G>C (p.Arg500Pro)
c.1454G>C (p.Arg485Pro)
c.1277G>C (p.Arg426Pro)
c.1109G>C (p.Arg370Pro)
c.994-21293G>C (n.994-21293G>C)
18g.49118808C>TCA8958009DYMc.1847G>A (p.Arg616His)
c.1682G>A (p.Arg561His)
c.1112G>A (p.Arg371His)
c.1679G>A (p.Arg560His)
c.1514G>A (p.Arg505His)
c.1564-21293G>A (n.1564-21293G>A)
c.1844G>A (p.Arg615His)
c.1729-21293G>A (n.1729-21293G>A)
c.1676G>A (p.Arg559His)
c.1502G>A (p.Arg501His)
c.1561-21293G>A (n.1561-21293G>A)
c.1558-21293G>A (n.1558-21293G>A)
n.2039G>A
c.1841G>A (p.Arg614His)
c.1721G>A (p.Arg574His)
c.1556G>A (p.Arg519His)
c.1499G>A (p.Arg500His)
c.1454G>A (p.Arg485His)
c.1277G>A (p.Arg426His)
c.1109G>A (p.Arg370His)
c.994-21293G>A (n.994-21293G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.49118809G>ACA8958010DYMc.1846C>T (p.Arg616Cys)
c.1681C>T (p.Arg561Cys)
c.1111C>T (p.Arg371Cys)
c.1678C>T (p.Arg560Cys)
c.1513C>T (p.Arg505Cys)
c.1564-21294C>T (n.1564-21294C>T)
c.1843C>T (p.Arg615Cys)
c.1729-21294C>T (n.1729-21294C>T)
c.1675C>T (p.Arg559Cys)
c.1501C>T (p.Arg501Cys)
c.1561-21294C>T (n.1561-21294C>T)
c.1558-21294C>T (n.1558-21294C>T)
n.2038C>T
c.1840C>T (p.Arg614Cys)
c.1720C>T (p.Arg574Cys)
c.1555C>T (p.Arg519Cys)
c.1498C>T (p.Arg500Cys)
c.1453C>T (p.Arg485Cys)
c.1276C>T (p.Arg426Cys)
c.1108C>T (p.Arg370Cys)
c.994-21294C>T (n.994-21294C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.49118809G>CCA402507107DYMc.1846C>G (p.Arg616Gly)
c.1681C>G (p.Arg561Gly)
c.1111C>G (p.Arg371Gly)
c.1678C>G (p.Arg560Gly)
c.1513C>G (p.Arg505Gly)
c.1564-21294C>G (n.1564-21294C>G)
c.1843C>G (p.Arg615Gly)
c.1729-21294C>G (n.1729-21294C>G)
c.1675C>G (p.Arg559Gly)
c.1501C>G (p.Arg501Gly)
c.1561-21294C>G (n.1561-21294C>G)
c.1558-21294C>G (n.1558-21294C>G)
n.2038C>G
c.1840C>G (p.Arg614Gly)
c.1720C>G (p.Arg574Gly)
c.1555C>G (p.Arg519Gly)
c.1498C>G (p.Arg500Gly)
c.1453C>G (p.Arg485Gly)
c.1276C>G (p.Arg426Gly)
c.1108C>G (p.Arg370Gly)
c.994-21294C>G (n.994-21294C>G)
18g.49118809G=CA2302066398DYMc.1846C= (p.Arg616=)
c.1681C= (p.Arg561=)
c.1111C= (p.Arg371=)
c.1678C= (p.Arg560=)
c.1513C= (p.Arg505=)
c.1564-21294C= (n.1564-21294C=)
c.1843C= (p.Arg615=)
c.1729-21294C= (n.1729-21294C=)
c.1675C= (p.Arg559=)
c.1501C= (p.Arg501=)
c.1561-21294C= (n.1561-21294C=)
c.1558-21294C= (n.1558-21294C=)
n.2038C=
c.1840C= (p.Arg614=)
c.1720C= (p.Arg574=)
c.1555C= (p.Arg519=)
c.1498C= (p.Arg500=)
c.1453C= (p.Arg485=)
c.1276C= (p.Arg426=)
c.1108C= (p.Arg370=)
c.994-21294C= (n.994-21294C=)
18g.49118809G>TCA402507106DYMc.1846C>A (p.Arg616Ser)
c.1681C>A (p.Arg561Ser)
c.1111C>A (p.Arg371Ser)
c.1678C>A (p.Arg560Ser)
c.1513C>A (p.Arg505Ser)
c.1564-21294C>A (n.1564-21294C>A)
c.1843C>A (p.Arg615Ser)
c.1729-21294C>A (n.1729-21294C>A)
c.1675C>A (p.Arg559Ser)
c.1501C>A (p.Arg501Ser)
c.1561-21294C>A (n.1561-21294C>A)
c.1558-21294C>A (n.1558-21294C>A)
n.2038C>A
c.1840C>A (p.Arg614Ser)
c.1720C>A (p.Arg574Ser)
c.1555C>A (p.Arg519Ser)
c.1498C>A (p.Arg500Ser)
c.1453C>A (p.Arg485Ser)
c.1276C>A (p.Arg426Ser)
c.1108C>A (p.Arg370Ser)
c.994-21294C>A (n.994-21294C>A)
 dbSNP gnomAD v4
18g.49118810T>ACA402507108DYMc.1845A>T (p.Lys615Asn)
c.1680A>T (p.Lys560Asn)
c.1110A>T (p.Lys370Asn)
c.1677A>T (p.Lys559Asn)
c.1512A>T (p.Lys504Asn)
c.1564-21295A>T (n.1564-21295A>T)
c.1842A>T (p.Lys614Asn)
c.1729-21295A>T (n.1729-21295A>T)
c.1674A>T (p.Lys558Asn)
c.1500A>T (p.Lys500Asn)
c.1561-21295A>T (n.1561-21295A>T)
c.1558-21295A>T (n.1558-21295A>T)
n.2037A>T
c.1839A>T (p.Lys613Asn)
c.1719A>T (p.Lys573Asn)
c.1554A>T (p.Lys518Asn)
c.1497A>T (p.Lys499Asn)
c.1452A>T (p.Lys484Asn)
c.1275A>T (p.Lys425Asn)
c.1107A>T (p.Lys369Asn)
c.994-21295A>T (n.994-21295A>T)
18g.49118810T>CCA503936329DYMc.1845A>G (p.Lys615=)
c.1680A>G (p.Lys560=)
c.1110A>G (p.Lys370=)
c.1677A>G (p.Lys559=)
c.1512A>G (p.Lys504=)
c.1564-21295A>G (n.1564-21295A>G)
c.1842A>G (p.Lys614=)
c.1729-21295A>G (n.1729-21295A>G)
c.1674A>G (p.Lys558=)
c.1500A>G (p.Lys500=)
c.1561-21295A>G (n.1561-21295A>G)
c.1558-21295A>G (n.1558-21295A>G)
n.2037A>G
c.1839A>G (p.Lys613=)
c.1719A>G (p.Lys573=)
c.1554A>G (p.Lys518=)
c.1497A>G (p.Lys499=)
c.1452A>G (p.Lys484=)
c.1275A>G (p.Lys425=)
c.1107A>G (p.Lys369=)
c.994-21295A>G (n.994-21295A>G)
18g.49118810T>GCA402507109DYMc.1845A>C (p.Lys615Asn)
c.1680A>C (p.Lys560Asn)
c.1110A>C (p.Lys370Asn)
c.1677A>C (p.Lys559Asn)
c.1512A>C (p.Lys504Asn)
c.1564-21295A>C (n.1564-21295A>C)
c.1842A>C (p.Lys614Asn)
c.1729-21295A>C (n.1729-21295A>C)
c.1674A>C (p.Lys558Asn)
c.1500A>C (p.Lys500Asn)
c.1561-21295A>C (n.1561-21295A>C)
c.1558-21295A>C (n.1558-21295A>C)
n.2037A>C
c.1839A>C (p.Lys613Asn)
c.1719A>C (p.Lys573Asn)
c.1554A>C (p.Lys518Asn)
c.1497A>C (p.Lys499Asn)
c.1452A>C (p.Lys484Asn)
c.1275A>C (p.Lys425Asn)
c.1107A>C (p.Lys369Asn)
c.994-21295A>C (n.994-21295A>C)
18g.49118812dupCA780034429DYMc.1845dup (p.Arg616ThrfsTer5)
c.1680dup (p.Arg561ThrfsTer5)
c.1110dup (p.Arg371ThrfsTer5)
c.1677dup (p.Arg560ThrfsTer5)
c.1512dup (p.Arg505ThrfsTer5)
c.1564-21295dup (n.1564-21295dup)
c.1842dup (p.Arg615ThrfsTer5)
c.1729-21295dup (n.1729-21295dup)
c.1674dup (p.Arg559ThrfsTer5)
c.1500dup (p.Arg501ThrfsTer5)
c.1561-21295dup (n.1561-21295dup)
c.1558-21295dup (n.1558-21295dup)
n.2037dup
c.1839dup (p.Arg614ThrfsTer5)
c.1719dup (p.Arg574ThrfsTer5)
c.1554dup (p.Arg519ThrfsTer5)
c.1497dup (p.Arg500ThrfsTer5)
c.1452dup (p.Arg485ThrfsTer5)
c.1275dup (p.Arg426ThrfsTer5)
c.1107dup (p.Arg370ThrfsTer5)
c.994-21295dup (n.994-21295dup)
 dbSNP
18g.49118811T>ACA402507110DYMc.1844A>T (p.Lys615Ile)
c.1679A>T (p.Lys560Ile)
c.1109A>T (p.Lys370Ile)
c.1676A>T (p.Lys559Ile)
c.1511A>T (p.Lys504Ile)
c.1564-21296A>T (n.1564-21296A>T)
c.1841A>T (p.Lys614Ile)
c.1729-21296A>T (n.1729-21296A>T)
c.1673A>T (p.Lys558Ile)
c.1499A>T (p.Lys500Ile)
c.1561-21296A>T (n.1561-21296A>T)
c.1558-21296A>T (n.1558-21296A>T)
n.2036A>T
c.1838A>T (p.Lys613Ile)
c.1718A>T (p.Lys573Ile)
c.1553A>T (p.Lys518Ile)
c.1496A>T (p.Lys499Ile)
c.1451A>T (p.Lys484Ile)
c.1274A>T (p.Lys425Ile)
c.1106A>T (p.Lys369Ile)
c.994-21296A>T (n.994-21296A>T)
18g.49118811T>CCA402507111DYMc.1844A>G (p.Lys615Arg)
c.1679A>G (p.Lys560Arg)
c.1109A>G (p.Lys370Arg)
c.1676A>G (p.Lys559Arg)
c.1511A>G (p.Lys504Arg)
c.1564-21296A>G (n.1564-21296A>G)
c.1841A>G (p.Lys614Arg)
c.1729-21296A>G (n.1729-21296A>G)
c.1673A>G (p.Lys558Arg)
c.1499A>G (p.Lys500Arg)
c.1561-21296A>G (n.1561-21296A>G)
c.1558-21296A>G (n.1558-21296A>G)
n.2036A>G
c.1838A>G (p.Lys613Arg)
c.1718A>G (p.Lys573Arg)
c.1553A>G (p.Lys518Arg)
c.1496A>G (p.Lys499Arg)
c.1451A>G (p.Lys484Arg)
c.1274A>G (p.Lys425Arg)
c.1106A>G (p.Lys369Arg)
c.994-21296A>G (n.994-21296A>G)
18g.49118811T>GCA402507112DYMc.1844A>C (p.Lys615Thr)
c.1679A>C (p.Lys560Thr)
c.1109A>C (p.Lys370Thr)
c.1676A>C (p.Lys559Thr)
c.1511A>C (p.Lys504Thr)
c.1564-21296A>C (n.1564-21296A>C)
c.1841A>C (p.Lys614Thr)
c.1729-21296A>C (n.1729-21296A>C)
c.1673A>C (p.Lys558Thr)
c.1499A>C (p.Lys500Thr)
c.1561-21296A>C (n.1561-21296A>C)
c.1558-21296A>C (n.1558-21296A>C)
n.2036A>C
c.1838A>C (p.Lys613Thr)
c.1718A>C (p.Lys573Thr)
c.1553A>C (p.Lys518Thr)
c.1496A>C (p.Lys499Thr)
c.1451A>C (p.Lys484Thr)
c.1274A>C (p.Lys425Thr)
c.1106A>C (p.Lys369Thr)
c.994-21296A>C (n.994-21296A>C)
18g.49118812T>ACA402507113DYMc.1843A>T (p.Lys615Ter)
c.1678A>T (p.Lys560Ter)
c.1108A>T (p.Lys370Ter)
c.1675A>T (p.Lys559Ter)
c.1510A>T (p.Lys504Ter)
c.1564-21297A>T (n.1564-21297A>T)
c.1840A>T (p.Lys614Ter)
c.1729-21297A>T (n.1729-21297A>T)
c.1672A>T (p.Lys558Ter)
c.1498A>T (p.Lys500Ter)
c.1561-21297A>T (n.1561-21297A>T)
c.1558-21297A>T (n.1558-21297A>T)
n.2035A>T
c.1837A>T (p.Lys613Ter)
c.1717A>T (p.Lys573Ter)
c.1552A>T (p.Lys518Ter)
c.1495A>T (p.Lys499Ter)
c.1450A>T (p.Lys484Ter)
c.1273A>T (p.Lys425Ter)
c.1105A>T (p.Lys369Ter)
c.994-21297A>T (n.994-21297A>T)
18g.49118812T>CCA402507114DYMc.1843A>G (p.Lys615Glu)
c.1678A>G (p.Lys560Glu)
c.1108A>G (p.Lys370Glu)
c.1675A>G (p.Lys559Glu)
c.1510A>G (p.Lys504Glu)
c.1564-21297A>G (n.1564-21297A>G)
c.1840A>G (p.Lys614Glu)
c.1729-21297A>G (n.1729-21297A>G)
c.1672A>G (p.Lys558Glu)
c.1498A>G (p.Lys500Glu)
c.1561-21297A>G (n.1561-21297A>G)
c.1558-21297A>G (n.1558-21297A>G)
n.2035A>G
c.1837A>G (p.Lys613Glu)
c.1717A>G (p.Lys573Glu)
c.1552A>G (p.Lys518Glu)
c.1495A>G (p.Lys499Glu)
c.1450A>G (p.Lys484Glu)
c.1273A>G (p.Lys425Glu)
c.1105A>G (p.Lys369Glu)
c.994-21297A>G (n.994-21297A>G)
18g.49118812T>GCA402507115DYMc.1843A>C (p.Lys615Gln)
c.1678A>C (p.Lys560Gln)
c.1108A>C (p.Lys370Gln)
c.1675A>C (p.Lys559Gln)
c.1510A>C (p.Lys504Gln)
c.1564-21297A>C (n.1564-21297A>C)
c.1840A>C (p.Lys614Gln)
c.1729-21297A>C (n.1729-21297A>C)
c.1672A>C (p.Lys558Gln)
c.1498A>C (p.Lys500Gln)
c.1561-21297A>C (n.1561-21297A>C)
c.1558-21297A>C (n.1558-21297A>C)
n.2035A>C
c.1837A>C (p.Lys613Gln)
c.1717A>C (p.Lys573Gln)
c.1552A>C (p.Lys518Gln)
c.1495A>C (p.Lys499Gln)
c.1450A>C (p.Lys484Gln)
c.1273A>C (p.Lys425Gln)
c.1105A>C (p.Lys369Gln)
c.994-21297A>C (n.994-21297A>C)
18g.49118813G>ACA503936330DYMc.1842C>T (p.Tyr614=)
c.1677C>T (p.Tyr559=)
c.1107C>T (p.Tyr369=)
c.1674C>T (p.Tyr558=)
c.1509C>T (p.Tyr503=)
c.1564-21298C>T (n.1564-21298C>T)
c.1839C>T (p.Tyr613=)
c.1729-21298C>T (n.1729-21298C>T)
c.1671C>T (p.Tyr557=)
c.1497C>T (p.Tyr499=)
c.1561-21298C>T (n.1561-21298C>T)
c.1558-21298C>T (n.1558-21298C>T)
n.2034C>T
c.1836C>T (p.Tyr612=)
c.1716C>T (p.Tyr572=)
c.1551C>T (p.Tyr517=)
c.1494C>T (p.Tyr498=)
c.1449C>T (p.Tyr483=)
c.1272C>T (p.Tyr424=)
c.1104C>T (p.Tyr368=)
c.994-21298C>T (n.994-21298C>T)
18g.49118813G>CCA402507116DYMc.1842C>G (p.Tyr614Ter)
c.1677C>G (p.Tyr559Ter)
c.1107C>G (p.Tyr369Ter)
c.1674C>G (p.Tyr558Ter)
c.1509C>G (p.Tyr503Ter)
c.1564-21298C>G (n.1564-21298C>G)
c.1839C>G (p.Tyr613Ter)
c.1729-21298C>G (n.1729-21298C>G)
c.1671C>G (p.Tyr557Ter)
c.1497C>G (p.Tyr499Ter)
c.1561-21298C>G (n.1561-21298C>G)
c.1558-21298C>G (n.1558-21298C>G)
n.2034C>G
c.1836C>G (p.Tyr612Ter)
c.1716C>G (p.Tyr572Ter)
c.1551C>G (p.Tyr517Ter)
c.1494C>G (p.Tyr498Ter)
c.1449C>G (p.Tyr483Ter)
c.1272C>G (p.Tyr424Ter)
c.1104C>G (p.Tyr368Ter)
c.994-21298C>G (n.994-21298C>G)
 gnomAD v4
18g.49118813G>TCA402507117DYMc.1842C>A (p.Tyr614Ter)
c.1677C>A (p.Tyr559Ter)
c.1107C>A (p.Tyr369Ter)
c.1674C>A (p.Tyr558Ter)
c.1509C>A (p.Tyr503Ter)
c.1564-21298C>A (n.1564-21298C>A)
c.1839C>A (p.Tyr613Ter)
c.1729-21298C>A (n.1729-21298C>A)
c.1671C>A (p.Tyr557Ter)
c.1497C>A (p.Tyr499Ter)
c.1561-21298C>A (n.1561-21298C>A)
c.1558-21298C>A (n.1558-21298C>A)
n.2034C>A
c.1836C>A (p.Tyr612Ter)
c.1716C>A (p.Tyr572Ter)
c.1551C>A (p.Tyr517Ter)
c.1494C>A (p.Tyr498Ter)
c.1449C>A (p.Tyr483Ter)
c.1272C>A (p.Tyr424Ter)
c.1104C>A (p.Tyr368Ter)
c.994-21298C>A (n.994-21298C>A)
18g.49118814T>ACA402507118DYMc.1841A>T (p.Tyr614Phe)
c.1676A>T (p.Tyr559Phe)
c.1106A>T (p.Tyr369Phe)
c.1673A>T (p.Tyr558Phe)
c.1508A>T (p.Tyr503Phe)
c.1564-21299A>T (n.1564-21299A>T)
c.1838A>T (p.Tyr613Phe)
c.1729-21299A>T (n.1729-21299A>T)
c.1670A>T (p.Tyr557Phe)
c.1496A>T (p.Tyr499Phe)
c.1561-21299A>T (n.1561-21299A>T)
c.1558-21299A>T (n.1558-21299A>T)
n.2033A>T
c.1835A>T (p.Tyr612Phe)
c.1715A>T (p.Tyr572Phe)
c.1550A>T (p.Tyr517Phe)
c.1493A>T (p.Tyr498Phe)
c.1448A>T (p.Tyr483Phe)
c.1271A>T (p.Tyr424Phe)
c.1103A>T (p.Tyr368Phe)
c.994-21299A>T (n.994-21299A>T)
18g.49118814T>CCA402507119DYMc.1841A>G (p.Tyr614Cys)
c.1676A>G (p.Tyr559Cys)
c.1106A>G (p.Tyr369Cys)
c.1673A>G (p.Tyr558Cys)
c.1508A>G (p.Tyr503Cys)
c.1564-21299A>G (n.1564-21299A>G)
c.1838A>G (p.Tyr613Cys)
c.1729-21299A>G (n.1729-21299A>G)
c.1670A>G (p.Tyr557Cys)
c.1496A>G (p.Tyr499Cys)
c.1561-21299A>G (n.1561-21299A>G)
c.1558-21299A>G (n.1558-21299A>G)
n.2033A>G
c.1835A>G (p.Tyr612Cys)
c.1715A>G (p.Tyr572Cys)
c.1550A>G (p.Tyr517Cys)
c.1493A>G (p.Tyr498Cys)
c.1448A>G (p.Tyr483Cys)
c.1271A>G (p.Tyr424Cys)
c.1103A>G (p.Tyr368Cys)
c.994-21299A>G (n.994-21299A>G)
 dbSNP gnomAD v4
18g.49118814T>GCA402507120DYMc.1841A>C (p.Tyr614Ser)
c.1676A>C (p.Tyr559Ser)
c.1106A>C (p.Tyr369Ser)
c.1673A>C (p.Tyr558Ser)
c.1508A>C (p.Tyr503Ser)
c.1564-21299A>C (n.1564-21299A>C)
c.1838A>C (p.Tyr613Ser)
c.1729-21299A>C (n.1729-21299A>C)
c.1670A>C (p.Tyr557Ser)
c.1496A>C (p.Tyr499Ser)
c.1561-21299A>C (n.1561-21299A>C)
c.1558-21299A>C (n.1558-21299A>C)
n.2033A>C
c.1835A>C (p.Tyr612Ser)
c.1715A>C (p.Tyr572Ser)
c.1550A>C (p.Tyr517Ser)
c.1493A>C (p.Tyr498Ser)
c.1448A>C (p.Tyr483Ser)
c.1271A>C (p.Tyr424Ser)
c.1103A>C (p.Tyr368Ser)
c.994-21299A>C (n.994-21299A>C)
18g.49118814T=CA2302066399DYMc.1841A= (p.Tyr614=)
c.1676A= (p.Tyr559=)
c.1106A= (p.Tyr369=)
c.1673A= (p.Tyr558=)
c.1508A= (p.Tyr503=)
c.1564-21299A= (n.1564-21299A=)
c.1838A= (p.Tyr613=)
c.1729-21299A= (n.1729-21299A=)
c.1670A= (p.Tyr557=)
c.1496A= (p.Tyr499=)
c.1561-21299A= (n.1561-21299A=)
c.1558-21299A= (n.1558-21299A=)
n.2033A=
c.1835A= (p.Tyr612=)
c.1715A= (p.Tyr572=)
c.1550A= (p.Tyr517=)
c.1493A= (p.Tyr498=)
c.1448A= (p.Tyr483=)
c.1271A= (p.Tyr424=)
c.1103A= (p.Tyr368=)
c.994-21299A= (n.994-21299A=)
18g.49118815A>CCA402507123DYMc.1840T>G (p.Tyr614Asp)
c.1675T>G (p.Tyr559Asp)
c.1105T>G (p.Tyr369Asp)
c.1672T>G (p.Tyr558Asp)
c.1507T>G (p.Tyr503Asp)
c.1564-21300T>G (n.1564-21300T>G)
c.1837T>G (p.Tyr613Asp)
c.1729-21300T>G (n.1729-21300T>G)
c.1669T>G (p.Tyr557Asp)
c.1495T>G (p.Tyr499Asp)
c.1561-21300T>G (n.1561-21300T>G)
c.1558-21300T>G (n.1558-21300T>G)
n.2032T>G
c.1834T>G (p.Tyr612Asp)
c.1714T>G (p.Tyr572Asp)
c.1549T>G (p.Tyr517Asp)
c.1492T>G (p.Tyr498Asp)
c.1447T>G (p.Tyr483Asp)
c.1270T>G (p.Tyr424Asp)
c.1102T>G (p.Tyr368Asp)
c.994-21300T>G (n.994-21300T>G)
18g.49118815A>GCA402507122DYMc.1840T>C (p.Tyr614His)
c.1675T>C (p.Tyr559His)
c.1105T>C (p.Tyr369His)
c.1672T>C (p.Tyr558His)
c.1507T>C (p.Tyr503His)
c.1564-21300T>C (n.1564-21300T>C)
c.1837T>C (p.Tyr613His)
c.1729-21300T>C (n.1729-21300T>C)
c.1669T>C (p.Tyr557His)
c.1495T>C (p.Tyr499His)
c.1561-21300T>C (n.1561-21300T>C)
c.1558-21300T>C (n.1558-21300T>C)
n.2032T>C
c.1834T>C (p.Tyr612His)
c.1714T>C (p.Tyr572His)
c.1549T>C (p.Tyr517His)
c.1492T>C (p.Tyr498His)
c.1447T>C (p.Tyr483His)
c.1270T>C (p.Tyr424His)
c.1102T>C (p.Tyr368His)
c.994-21300T>C (n.994-21300T>C)
18g.49118815A>TCA402507121DYMc.1840T>A (p.Tyr614Asn)
c.1675T>A (p.Tyr559Asn)
c.1105T>A (p.Tyr369Asn)
c.1672T>A (p.Tyr558Asn)
c.1507T>A (p.Tyr503Asn)
c.1564-21300T>A (n.1564-21300T>A)
c.1837T>A (p.Tyr613Asn)
c.1729-21300T>A (n.1729-21300T>A)
c.1669T>A (p.Tyr557Asn)
c.1495T>A (p.Tyr499Asn)
c.1561-21300T>A (n.1561-21300T>A)
c.1558-21300T>A (n.1558-21300T>A)
n.2032T>A
c.1834T>A (p.Tyr612Asn)
c.1714T>A (p.Tyr572Asn)
c.1549T>A (p.Tyr517Asn)
c.1492T>A (p.Tyr498Asn)
c.1447T>A (p.Tyr483Asn)
c.1270T>A (p.Tyr424Asn)
c.1102T>A (p.Tyr368Asn)
c.994-21300T>A (n.994-21300T>A)
18g.49118816A>CCA503936331DYMc.1839T>G (p.Leu613=)
c.1674T>G (p.Leu558=)
c.1104T>G (p.Leu368=)
c.1671T>G (p.Leu557=)
c.1506T>G (p.Leu502=)
c.1564-21301T>G (n.1564-21301T>G)
c.1836T>G (p.Leu612=)
c.1729-21301T>G (n.1729-21301T>G)
c.1668T>G (p.Leu556=)
c.1494T>G (p.Leu498=)
c.1561-21301T>G (n.1561-21301T>G)
c.1558-21301T>G (n.1558-21301T>G)
n.2031T>G
c.1833T>G (p.Leu611=)
c.1713T>G (p.Leu571=)
c.1548T>G (p.Leu516=)
c.1491T>G (p.Leu497=)
c.1446T>G (p.Leu482=)
c.1269T>G (p.Leu423=)
c.1101T>G (p.Leu367=)
c.994-21301T>G (n.994-21301T>G)
 gnomAD v4
18g.49118816A>GCA503936332DYMc.1839T>C (p.Leu613=)
c.1674T>C (p.Leu558=)
c.1104T>C (p.Leu368=)
c.1671T>C (p.Leu557=)
c.1506T>C (p.Leu502=)
c.1564-21301T>C (n.1564-21301T>C)
c.1836T>C (p.Leu612=)
c.1729-21301T>C (n.1729-21301T>C)
c.1668T>C (p.Leu556=)
c.1494T>C (p.Leu498=)
c.1561-21301T>C (n.1561-21301T>C)
c.1558-21301T>C (n.1558-21301T>C)
n.2031T>C
c.1833T>C (p.Leu611=)
c.1713T>C (p.Leu571=)
c.1548T>C (p.Leu516=)
c.1491T>C (p.Leu497=)
c.1446T>C (p.Leu482=)
c.1269T>C (p.Leu423=)
c.1101T>C (p.Leu367=)
c.994-21301T>C (n.994-21301T>C)
18g.49118816A>TCA503936333DYMc.1839T>A (p.Leu613=)
c.1674T>A (p.Leu558=)
c.1104T>A (p.Leu368=)
c.1671T>A (p.Leu557=)
c.1506T>A (p.Leu502=)
c.1564-21301T>A (n.1564-21301T>A)
c.1836T>A (p.Leu612=)
c.1729-21301T>A (n.1729-21301T>A)
c.1668T>A (p.Leu556=)
c.1494T>A (p.Leu498=)
c.1561-21301T>A (n.1561-21301T>A)
c.1558-21301T>A (n.1558-21301T>A)
n.2031T>A
c.1833T>A (p.Leu611=)
c.1713T>A (p.Leu571=)
c.1548T>A (p.Leu516=)
c.1491T>A (p.Leu497=)
c.1446T>A (p.Leu482=)
c.1269T>A (p.Leu423=)
c.1101T>A (p.Leu367=)
c.994-21301T>A (n.994-21301T>A)
18g.49118817A>CCA402507124DYMc.1838T>G (p.Leu613Arg)
c.1673T>G (p.Leu558Arg)
c.1103T>G (p.Leu368Arg)
c.1670T>G (p.Leu557Arg)
c.1505T>G (p.Leu502Arg)
c.1564-21302T>G (n.1564-21302T>G)
c.1835T>G (p.Leu612Arg)
c.1729-21302T>G (n.1729-21302T>G)
c.1667T>G (p.Leu556Arg)
c.1493T>G (p.Leu498Arg)
c.1561-21302T>G (n.1561-21302T>G)
c.1558-21302T>G (n.1558-21302T>G)
n.2030T>G
c.1832T>G (p.Leu611Arg)
c.1712T>G (p.Leu571Arg)
c.1547T>G (p.Leu516Arg)
c.1490T>G (p.Leu497Arg)
c.1445T>G (p.Leu482Arg)
c.1268T>G (p.Leu423Arg)
c.1100T>G (p.Leu367Arg)
c.994-21302T>G (n.994-21302T>G)
18g.49118817A>GCA402507125DYMc.1838T>C (p.Leu613Pro)
c.1673T>C (p.Leu558Pro)
c.1103T>C (p.Leu368Pro)
c.1670T>C (p.Leu557Pro)
c.1505T>C (p.Leu502Pro)
c.1564-21302T>C (n.1564-21302T>C)
c.1835T>C (p.Leu612Pro)
c.1729-21302T>C (n.1729-21302T>C)
c.1667T>C (p.Leu556Pro)
c.1493T>C (p.Leu498Pro)
c.1561-21302T>C (n.1561-21302T>C)
c.1558-21302T>C (n.1558-21302T>C)
n.2030T>C
c.1832T>C (p.Leu611Pro)
c.1712T>C (p.Leu571Pro)
c.1547T>C (p.Leu516Pro)
c.1490T>C (p.Leu497Pro)
c.1445T>C (p.Leu482Pro)
c.1268T>C (p.Leu423Pro)
c.1100T>C (p.Leu367Pro)
c.994-21302T>C (n.994-21302T>C)
18g.49118817A>TCA402507126DYMc.1838T>A (p.Leu613His)
c.1673T>A (p.Leu558His)
c.1103T>A (p.Leu368His)
c.1670T>A (p.Leu557His)
c.1505T>A (p.Leu502His)
c.1564-21302T>A (n.1564-21302T>A)
c.1835T>A (p.Leu612His)
c.1729-21302T>A (n.1729-21302T>A)
c.1667T>A (p.Leu556His)
c.1493T>A (p.Leu498His)
c.1561-21302T>A (n.1561-21302T>A)
c.1558-21302T>A (n.1558-21302T>A)
n.2030T>A
c.1832T>A (p.Leu611His)
c.1712T>A (p.Leu571His)
c.1547T>A (p.Leu516His)
c.1490T>A (p.Leu497His)
c.1445T>A (p.Leu482His)
c.1268T>A (p.Leu423His)
c.1100T>A (p.Leu367His)
c.994-21302T>A (n.994-21302T>A)
18g.49118818G>ACA402507127DYMc.1837C>T (p.Leu613Phe)
c.1672C>T (p.Leu558Phe)
c.1102C>T (p.Leu368Phe)
c.1669C>T (p.Leu557Phe)
c.1504C>T (p.Leu502Phe)
c.1564-21303C>T (n.1564-21303C>T)
c.1834C>T (p.Leu612Phe)
c.1729-21303C>T (n.1729-21303C>T)
c.1666C>T (p.Leu556Phe)
c.1492C>T (p.Leu498Phe)
c.1561-21303C>T (n.1561-21303C>T)
c.1558-21303C>T (n.1558-21303C>T)
n.2029C>T
c.1831C>T (p.Leu611Phe)
c.1711C>T (p.Leu571Phe)
c.1546C>T (p.Leu516Phe)
c.1489C>T (p.Leu497Phe)
c.1444C>T (p.Leu482Phe)
c.1267C>T (p.Leu423Phe)
c.1099C>T (p.Leu367Phe)
c.994-21303C>T (n.994-21303C>T)
18g.49118818G>CCA402507128DYMc.1837C>G (p.Leu613Val)
c.1672C>G (p.Leu558Val)
c.1102C>G (p.Leu368Val)
c.1669C>G (p.Leu557Val)
c.1504C>G (p.Leu502Val)
c.1564-21303C>G (n.1564-21303C>G)
c.1834C>G (p.Leu612Val)
c.1729-21303C>G (n.1729-21303C>G)
c.1666C>G (p.Leu556Val)
c.1492C>G (p.Leu498Val)
c.1561-21303C>G (n.1561-21303C>G)
c.1558-21303C>G (n.1558-21303C>G)
n.2029C>G
c.1831C>G (p.Leu611Val)
c.1711C>G (p.Leu571Val)
c.1546C>G (p.Leu516Val)
c.1489C>G (p.Leu497Val)
c.1444C>G (p.Leu482Val)
c.1267C>G (p.Leu423Val)
c.1099C>G (p.Leu367Val)
c.994-21303C>G (n.994-21303C>G)
18g.49118818G>TCA402507129DYMc.1837C>A (p.Leu613Ile)
c.1672C>A (p.Leu558Ile)
c.1102C>A (p.Leu368Ile)
c.1669C>A (p.Leu557Ile)
c.1504C>A (p.Leu502Ile)
c.1564-21303C>A (n.1564-21303C>A)
c.1834C>A (p.Leu612Ile)
c.1729-21303C>A (n.1729-21303C>A)
c.1666C>A (p.Leu556Ile)
c.1492C>A (p.Leu498Ile)
c.1561-21303C>A (n.1561-21303C>A)
c.1558-21303C>A (n.1558-21303C>A)
n.2029C>A
c.1831C>A (p.Leu611Ile)
c.1711C>A (p.Leu571Ile)
c.1546C>A (p.Leu516Ile)
c.1489C>A (p.Leu497Ile)
c.1444C>A (p.Leu482Ile)
c.1267C>A (p.Leu423Ile)
c.1099C>A (p.Leu367Ile)
c.994-21303C>A (n.994-21303C>A)
18g.49118819C>ACA503936334DYMc.1836G>T (p.Leu612=)
c.1671G>T (p.Leu557=)
c.1101G>T (p.Leu367=)
c.1668G>T (p.Leu556=)
c.1503G>T (p.Leu501=)
c.1564-21304G>T (n.1564-21304G>T)
c.1833G>T (p.Leu611=)
c.1729-21304G>T (n.1729-21304G>T)
c.1665G>T (p.Leu555=)
c.1491G>T (p.Leu497=)
c.1561-21304G>T (n.1561-21304G>T)
c.1558-21304G>T (n.1558-21304G>T)
n.2028G>T
c.1830G>T (p.Leu610=)
c.1710G>T (p.Leu570=)
c.1545G>T (p.Leu515=)
c.1488G>T (p.Leu496=)
c.1443G>T (p.Leu481=)
c.1266G>T (p.Leu422=)
c.1098G>T (p.Leu366=)
c.994-21304G>T (n.994-21304G>T)
18g.49118819C>GCA503936336DYMc.1836G>C (p.Leu612=)
c.1671G>C (p.Leu557=)
c.1101G>C (p.Leu367=)
c.1668G>C (p.Leu556=)
c.1503G>C (p.Leu501=)
c.1564-21304G>C (n.1564-21304G>C)
c.1833G>C (p.Leu611=)
c.1729-21304G>C (n.1729-21304G>C)
c.1665G>C (p.Leu555=)
c.1491G>C (p.Leu497=)
c.1561-21304G>C (n.1561-21304G>C)
c.1558-21304G>C (n.1558-21304G>C)
n.2028G>C
c.1830G>C (p.Leu610=)
c.1710G>C (p.Leu570=)
c.1545G>C (p.Leu515=)
c.1488G>C (p.Leu496=)
c.1443G>C (p.Leu481=)
c.1266G>C (p.Leu422=)
c.1098G>C (p.Leu366=)
c.994-21304G>C (n.994-21304G>C)
18g.49118819C>TCA503936335DYMc.1836G>A (p.Leu612=)
c.1671G>A (p.Leu557=)
c.1101G>A (p.Leu367=)
c.1668G>A (p.Leu556=)
c.1503G>A (p.Leu501=)
c.1564-21304G>A (n.1564-21304G>A)
c.1833G>A (p.Leu611=)
c.1729-21304G>A (n.1729-21304G>A)
c.1665G>A (p.Leu555=)
c.1491G>A (p.Leu497=)
c.1561-21304G>A (n.1561-21304G>A)
c.1558-21304G>A (n.1558-21304G>A)
n.2028G>A
c.1830G>A (p.Leu610=)
c.1710G>A (p.Leu570=)
c.1545G>A (p.Leu515=)
c.1488G>A (p.Leu496=)
c.1443G>A (p.Leu481=)
c.1266G>A (p.Leu422=)
c.1098G>A (p.Leu366=)
c.994-21304G>A (n.994-21304G>A)
18g.49118820delCA2695227535DYMc.1835del (p.Leu612ArgfsTer20)
c.1670del (p.Leu557ArgfsTer20)
c.1100del (p.Leu367ArgfsTer20)
c.1667del (p.Leu556ArgfsTer20)
c.1502del (p.Leu501ArgfsTer20)
c.1564-21305del (n.1564-21305del)
c.1832del (p.Leu611ArgfsTer20)
c.1729-21305del (n.1729-21305del)
c.1664del (p.Leu555ArgfsTer20)
c.1490del (p.Leu497ArgfsTer20)
c.1561-21305del (n.1561-21305del)
c.1558-21305del (n.1558-21305del)
n.2027del
c.1829del (p.Leu610ArgfsTer20)
c.1709del (p.Leu570ArgfsTer20)
c.1544del (p.Leu515ArgfsTer20)
c.1487del (p.Leu496ArgfsTer20)
c.1442del (p.Leu481ArgfsTer20)
c.1265del (p.Leu422ArgfsTer20)
c.1097del (p.Leu366ArgfsTer20)
c.994-21305del (n.994-21305del)
18g.49118820A>CCA402507130DYMc.1835T>G (p.Leu612Arg)
c.1670T>G (p.Leu557Arg)
c.1100T>G (p.Leu367Arg)
c.1667T>G (p.Leu556Arg)
c.1502T>G (p.Leu501Arg)
c.1564-21305T>G (n.1564-21305T>G)
c.1832T>G (p.Leu611Arg)
c.1729-21305T>G (n.1729-21305T>G)
c.1664T>G (p.Leu555Arg)
c.1490T>G (p.Leu497Arg)
c.1561-21305T>G (n.1561-21305T>G)
c.1558-21305T>G (n.1558-21305T>G)
n.2027T>G
c.1829T>G (p.Leu610Arg)
c.1709T>G (p.Leu570Arg)
c.1544T>G (p.Leu515Arg)
c.1487T>G (p.Leu496Arg)
c.1442T>G (p.Leu481Arg)
c.1265T>G (p.Leu422Arg)
c.1097T>G (p.Leu366Arg)
c.994-21305T>G (n.994-21305T>G)
 gnomAD v4
18g.49118820A>GCA402507131DYMc.1835T>C (p.Leu612Pro)
c.1670T>C (p.Leu557Pro)
c.1100T>C (p.Leu367Pro)
c.1667T>C (p.Leu556Pro)
c.1502T>C (p.Leu501Pro)
c.1564-21305T>C (n.1564-21305T>C)
c.1832T>C (p.Leu611Pro)
c.1729-21305T>C (n.1729-21305T>C)
c.1664T>C (p.Leu555Pro)
c.1490T>C (p.Leu497Pro)
c.1561-21305T>C (n.1561-21305T>C)
c.1558-21305T>C (n.1558-21305T>C)
n.2027T>C
c.1829T>C (p.Leu610Pro)
c.1709T>C (p.Leu570Pro)
c.1544T>C (p.Leu515Pro)
c.1487T>C (p.Leu496Pro)
c.1442T>C (p.Leu481Pro)
c.1265T>C (p.Leu422Pro)
c.1097T>C (p.Leu366Pro)
c.994-21305T>C (n.994-21305T>C)
18g.49118820A>TCA402507132DYMc.1835T>A (p.Leu612Gln)
c.1670T>A (p.Leu557Gln)
c.1100T>A (p.Leu367Gln)
c.1667T>A (p.Leu556Gln)
c.1502T>A (p.Leu501Gln)
c.1564-21305T>A (n.1564-21305T>A)
c.1832T>A (p.Leu611Gln)
c.1729-21305T>A (n.1729-21305T>A)
c.1664T>A (p.Leu555Gln)
c.1490T>A (p.Leu497Gln)
c.1561-21305T>A (n.1561-21305T>A)
c.1558-21305T>A (n.1558-21305T>A)
n.2027T>A
c.1829T>A (p.Leu610Gln)
c.1709T>A (p.Leu570Gln)
c.1544T>A (p.Leu515Gln)
c.1487T>A (p.Leu496Gln)
c.1442T>A (p.Leu481Gln)
c.1265T>A (p.Leu422Gln)
c.1097T>A (p.Leu366Gln)
c.994-21305T>A (n.994-21305T>A)
18g.49118821G>ACA503936337DYMc.1834C>T (p.Leu612=)
c.1669C>T (p.Leu557=)
c.1099C>T (p.Leu367=)
c.1666C>T (p.Leu556=)
c.1501C>T (p.Leu501=)
c.1564-21306C>T (n.1564-21306C>T)
c.1831C>T (p.Leu611=)
c.1729-21306C>T (n.1729-21306C>T)
c.1663C>T (p.Leu555=)
c.1489C>T (p.Leu497=)
c.1561-21306C>T (n.1561-21306C>T)
c.1558-21306C>T (n.1558-21306C>T)
n.2026C>T
c.1828C>T (p.Leu610=)
c.1708C>T (p.Leu570=)
c.1543C>T (p.Leu515=)
c.1486C>T (p.Leu496=)
c.1441C>T (p.Leu481=)
c.1264C>T (p.Leu422=)
c.1096C>T (p.Leu366=)
c.994-21306C>T (n.994-21306C>T)
18g.49118821G>CCA402507133DYMc.1834C>G (p.Leu612Val)
c.1669C>G (p.Leu557Val)
c.1099C>G (p.Leu367Val)
c.1666C>G (p.Leu556Val)
c.1501C>G (p.Leu501Val)
c.1564-21306C>G (n.1564-21306C>G)
c.1831C>G (p.Leu611Val)
c.1729-21306C>G (n.1729-21306C>G)
c.1663C>G (p.Leu555Val)
c.1489C>G (p.Leu497Val)
c.1561-21306C>G (n.1561-21306C>G)
c.1558-21306C>G (n.1558-21306C>G)
n.2026C>G
c.1828C>G (p.Leu610Val)
c.1708C>G (p.Leu570Val)
c.1543C>G (p.Leu515Val)
c.1486C>G (p.Leu496Val)
c.1441C>G (p.Leu481Val)
c.1264C>G (p.Leu422Val)
c.1096C>G (p.Leu366Val)
c.994-21306C>G (n.994-21306C>G)
18g.49118821G>TCA402507134DYMc.1834C>A (p.Leu612Met)
c.1669C>A (p.Leu557Met)
c.1099C>A (p.Leu367Met)
c.1666C>A (p.Leu556Met)
c.1501C>A (p.Leu501Met)
c.1564-21306C>A (n.1564-21306C>A)
c.1831C>A (p.Leu611Met)
c.1729-21306C>A (n.1729-21306C>A)
c.1663C>A (p.Leu555Met)
c.1489C>A (p.Leu497Met)
c.1561-21306C>A (n.1561-21306C>A)
c.1558-21306C>A (n.1558-21306C>A)
n.2026C>A
c.1828C>A (p.Leu610Met)
c.1708C>A (p.Leu570Met)
c.1543C>A (p.Leu515Met)
c.1486C>A (p.Leu496Met)
c.1441C>A (p.Leu481Met)
c.1264C>A (p.Leu422Met)
c.1096C>A (p.Leu366Met)
c.994-21306C>A (n.994-21306C>A)
18g.49118822G>ACA300360639DYMc.1833C>T (p.Ala611=)
c.1668C>T (p.Ala556=)
c.1098C>T (p.Ala366=)
c.1665C>T (p.Ala555=)
c.1500C>T (p.Ala500=)
c.1564-21307C>T (n.1564-21307C>T)
c.1830C>T (p.Ala610=)
c.1729-21307C>T (n.1729-21307C>T)
c.1662C>T (p.Ala554=)
c.1488C>T (p.Ala496=)
c.1561-21307C>T (n.1561-21307C>T)
c.1558-21307C>T (n.1558-21307C>T)
n.2025C>T
c.1827C>T (p.Ala609=)
c.1707C>T (p.Ala569=)
c.1542C>T (p.Ala514=)
c.1485C>T (p.Ala495=)
c.1440C>T (p.Ala480=)
c.1263C>T (p.Ala421=)
c.1095C>T (p.Ala365=)
c.994-21307C>T (n.994-21307C>T)
 dbSNP gnomAD v4
18g.49118822G>CCA503936338DYMc.1833C>G (p.Ala611=)
c.1668C>G (p.Ala556=)
c.1098C>G (p.Ala366=)
c.1665C>G (p.Ala555=)
c.1500C>G (p.Ala500=)
c.1564-21307C>G (n.1564-21307C>G)
c.1830C>G (p.Ala610=)
c.1729-21307C>G (n.1729-21307C>G)
c.1662C>G (p.Ala554=)
c.1488C>G (p.Ala496=)
c.1561-21307C>G (n.1561-21307C>G)
c.1558-21307C>G (n.1558-21307C>G)
n.2025C>G
c.1827C>G (p.Ala609=)
c.1707C>G (p.Ala569=)
c.1542C>G (p.Ala514=)
c.1485C>G (p.Ala495=)
c.1440C>G (p.Ala480=)
c.1263C>G (p.Ala421=)
c.1095C>G (p.Ala365=)
c.994-21307C>G (n.994-21307C>G)
18g.49118822G=CA2302066400DYMc.1833C= (p.Ala611=)
c.1668C= (p.Ala556=)
c.1098C= (p.Ala366=)
c.1665C= (p.Ala555=)
c.1500C= (p.Ala500=)
c.1564-21307C= (n.1564-21307C=)
c.1830C= (p.Ala610=)
c.1729-21307C= (n.1729-21307C=)
c.1662C= (p.Ala554=)
c.1488C= (p.Ala496=)
c.1561-21307C= (n.1561-21307C=)
c.1558-21307C= (n.1558-21307C=)
n.2025C=
c.1827C= (p.Ala609=)
c.1707C= (p.Ala569=)
c.1542C= (p.Ala514=)
c.1485C= (p.Ala495=)
c.1440C= (p.Ala480=)
c.1263C= (p.Ala421=)
c.1095C= (p.Ala365=)
c.994-21307C= (n.994-21307C=)
18g.49118822G>TCA503936339DYMc.1833C>A (p.Ala611=)
c.1668C>A (p.Ala556=)
c.1098C>A (p.Ala366=)
c.1665C>A (p.Ala555=)
c.1500C>A (p.Ala500=)
c.1564-21307C>A (n.1564-21307C>A)
c.1830C>A (p.Ala610=)
c.1729-21307C>A (n.1729-21307C>A)
c.1662C>A (p.Ala554=)
c.1488C>A (p.Ala496=)
c.1561-21307C>A (n.1561-21307C>A)
c.1558-21307C>A (n.1558-21307C>A)
n.2025C>A
c.1827C>A (p.Ala609=)
c.1707C>A (p.Ala569=)
c.1542C>A (p.Ala514=)
c.1485C>A (p.Ala495=)
c.1440C>A (p.Ala480=)
c.1263C>A (p.Ala421=)
c.1095C>A (p.Ala365=)
c.994-21307C>A (n.994-21307C>A)
18g.49118823G>ACA402507135DYMc.1832C>T (p.Ala611Val)
c.1667C>T (p.Ala556Val)
c.1097C>T (p.Ala366Val)
c.1664C>T (p.Ala555Val)
c.1499C>T (p.Ala500Val)
c.1564-21308C>T (n.1564-21308C>T)
c.1829C>T (p.Ala610Val)
c.1729-21308C>T (n.1729-21308C>T)
c.1661C>T (p.Ala554Val)
c.1487C>T (p.Ala496Val)
c.1561-21308C>T (n.1561-21308C>T)
c.1558-21308C>T (n.1558-21308C>T)
n.2024C>T
c.1826C>T (p.Ala609Val)
c.1706C>T (p.Ala569Val)
c.1541C>T (p.Ala514Val)
c.1484C>T (p.Ala495Val)
c.1439C>T (p.Ala480Val)
c.1262C>T (p.Ala421Val)
c.1094C>T (p.Ala365Val)
c.994-21308C>T (n.994-21308C>T)
18g.49118823G>CCA402507136DYMc.1832C>G (p.Ala611Gly)
c.1667C>G (p.Ala556Gly)
c.1097C>G (p.Ala366Gly)
c.1664C>G (p.Ala555Gly)
c.1499C>G (p.Ala500Gly)
c.1564-21308C>G (n.1564-21308C>G)
c.1829C>G (p.Ala610Gly)
c.1729-21308C>G (n.1729-21308C>G)
c.1661C>G (p.Ala554Gly)
c.1487C>G (p.Ala496Gly)
c.1561-21308C>G (n.1561-21308C>G)
c.1558-21308C>G (n.1558-21308C>G)
n.2024C>G
c.1826C>G (p.Ala609Gly)
c.1706C>G (p.Ala569Gly)
c.1541C>G (p.Ala514Gly)
c.1484C>G (p.Ala495Gly)
c.1439C>G (p.Ala480Gly)
c.1262C>G (p.Ala421Gly)
c.1094C>G (p.Ala365Gly)
c.994-21308C>G (n.994-21308C>G)
18g.49118823G=CA2302066401DYMc.1832C= (p.Ala611=)
c.1667C= (p.Ala556=)
c.1097C= (p.Ala366=)
c.1664C= (p.Ala555=)
c.1499C= (p.Ala500=)
c.1564-21308C= (n.1564-21308C=)
c.1829C= (p.Ala610=)
c.1729-21308C= (n.1729-21308C=)
c.1661C= (p.Ala554=)
c.1487C= (p.Ala496=)
c.1561-21308C= (n.1561-21308C=)
c.1558-21308C= (n.1558-21308C=)
n.2024C=
c.1826C= (p.Ala609=)
c.1706C= (p.Ala569=)
c.1541C= (p.Ala514=)
c.1484C= (p.Ala495=)
c.1439C= (p.Ala480=)
c.1262C= (p.Ala421=)
c.1094C= (p.Ala365=)
c.994-21308C= (n.994-21308C=)
18g.49118823G>TCA8958011DYMc.1832C>A (p.Ala611Asp)
c.1667C>A (p.Ala556Asp)
c.1097C>A (p.Ala366Asp)
c.1664C>A (p.Ala555Asp)
c.1499C>A (p.Ala500Asp)
c.1564-21308C>A (n.1564-21308C>A)
c.1829C>A (p.Ala610Asp)
c.1729-21308C>A (n.1729-21308C>A)
c.1661C>A (p.Ala554Asp)
c.1487C>A (p.Ala496Asp)
c.1561-21308C>A (n.1561-21308C>A)
c.1558-21308C>A (n.1558-21308C>A)
n.2024C>A
c.1826C>A (p.Ala609Asp)
c.1706C>A (p.Ala569Asp)
c.1541C>A (p.Ala514Asp)
c.1484C>A (p.Ala495Asp)
c.1439C>A (p.Ala480Asp)
c.1262C>A (p.Ala421Asp)
c.1094C>A (p.Ala365Asp)
c.994-21308C>A (n.994-21308C>A)
 dbSNP ExAC gnomAD v2
18g.49118824C>ACA402507138DYMc.1831G>T (p.Ala611Ser)
c.1666G>T (p.Ala556Ser)
c.1096G>T (p.Ala366Ser)
c.1663G>T (p.Ala555Ser)
c.1498G>T (p.Ala500Ser)
c.1564-21309G>T (n.1564-21309G>T)
c.1828G>T (p.Ala610Ser)
c.1729-21309G>T (n.1729-21309G>T)
c.1660G>T (p.Ala554Ser)
c.1486G>T (p.Ala496Ser)
c.1561-21309G>T (n.1561-21309G>T)
c.1558-21309G>T (n.1558-21309G>T)
n.2023G>T
c.1825G>T (p.Ala609Ser)
c.1705G>T (p.Ala569Ser)
c.1540G>T (p.Ala514Ser)
c.1483G>T (p.Ala495Ser)
c.1438G>T (p.Ala480Ser)
c.1261G>T (p.Ala421Ser)
c.1093G>T (p.Ala365Ser)
c.994-21309G>T (n.994-21309G>T)
18g.49118824C=CA2302066402DYMc.1831G= (p.Ala611=)
c.1666G= (p.Ala556=)
c.1096G= (p.Ala366=)
c.1663G= (p.Ala555=)
c.1498G= (p.Ala500=)
c.1564-21309G= (n.1564-21309G=)
c.1828G= (p.Ala610=)
c.1729-21309G= (n.1729-21309G=)
c.1660G= (p.Ala554=)
c.1486G= (p.Ala496=)
c.1561-21309G= (n.1561-21309G=)
c.1558-21309G= (n.1558-21309G=)
n.2023G=
c.1825G= (p.Ala609=)
c.1705G= (p.Ala569=)
c.1540G= (p.Ala514=)
c.1483G= (p.Ala495=)
c.1438G= (p.Ala480=)
c.1261G= (p.Ala421=)
c.1093G= (p.Ala365=)
c.994-21309G= (n.994-21309G=)
18g.49118824C>GCA402507137DYMc.1831G>C (p.Ala611Pro)
c.1666G>C (p.Ala556Pro)
c.1096G>C (p.Ala366Pro)
c.1663G>C (p.Ala555Pro)
c.1498G>C (p.Ala500Pro)
c.1564-21309G>C (n.1564-21309G>C)
c.1828G>C (p.Ala610Pro)
c.1729-21309G>C (n.1729-21309G>C)
c.1660G>C (p.Ala554Pro)
c.1486G>C (p.Ala496Pro)
c.1561-21309G>C (n.1561-21309G>C)
c.1558-21309G>C (n.1558-21309G>C)
n.2023G>C
c.1825G>C (p.Ala609Pro)
c.1705G>C (p.Ala569Pro)
c.1540G>C (p.Ala514Pro)
c.1483G>C (p.Ala495Pro)
c.1438G>C (p.Ala480Pro)
c.1261G>C (p.Ala421Pro)
c.1093G>C (p.Ala365Pro)
c.994-21309G>C (n.994-21309G>C)
18g.49118824C>TCA8958012DYMc.1831G>A (p.Ala611Thr)
c.1666G>A (p.Ala556Thr)
c.1096G>A (p.Ala366Thr)
c.1663G>A (p.Ala555Thr)
c.1498G>A (p.Ala500Thr)
c.1564-21309G>A (n.1564-21309G>A)
c.1828G>A (p.Ala610Thr)
c.1729-21309G>A (n.1729-21309G>A)
c.1660G>A (p.Ala554Thr)
c.1486G>A (p.Ala496Thr)
c.1561-21309G>A (n.1561-21309G>A)
c.1558-21309G>A (n.1558-21309G>A)
n.2023G>A
c.1825G>A (p.Ala609Thr)
c.1705G>A (p.Ala569Thr)
c.1540G>A (p.Ala514Thr)
c.1483G>A (p.Ala495Thr)
c.1438G>A (p.Ala480Thr)
c.1261G>A (p.Ala421Thr)
c.1093G>A (p.Ala365Thr)
c.994-21309G>A (n.994-21309G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.49118825G>ACA8958013DYMc.1830C>T (p.Tyr610=)
c.1665C>T (p.Tyr555=)
c.1095C>T (p.Tyr365=)
c.1662C>T (p.Tyr554=)
c.1497C>T (p.Tyr499=)
c.1564-21310C>T (n.1564-21310C>T)
c.1827C>T (p.Tyr609=)
c.1729-21310C>T (n.1729-21310C>T)
c.1659C>T (p.Tyr553=)
c.1485C>T (p.Tyr495=)
c.1561-21310C>T (n.1561-21310C>T)
c.1558-21310C>T (n.1558-21310C>T)
n.2022C>T
c.1824C>T (p.Tyr608=)
c.1704C>T (p.Tyr568=)
c.1539C>T (p.Tyr513=)
c.1482C>T (p.Tyr494=)
c.1437C>T (p.Tyr479=)
c.1260C>T (p.Tyr420=)
c.1092C>T (p.Tyr364=)
c.994-21310C>T (n.994-21310C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.49118825G>CCA402507139DYMc.1830C>G (p.Tyr610Ter)
c.1665C>G (p.Tyr555Ter)
c.1095C>G (p.Tyr365Ter)
c.1662C>G (p.Tyr554Ter)
c.1497C>G (p.Tyr499Ter)
c.1564-21310C>G (n.1564-21310C>G)
c.1827C>G (p.Tyr609Ter)
c.1729-21310C>G (n.1729-21310C>G)
c.1659C>G (p.Tyr553Ter)
c.1485C>G (p.Tyr495Ter)
c.1561-21310C>G (n.1561-21310C>G)
c.1558-21310C>G (n.1558-21310C>G)
n.2022C>G
c.1824C>G (p.Tyr608Ter)
c.1704C>G (p.Tyr568Ter)
c.1539C>G (p.Tyr513Ter)
c.1482C>G (p.Tyr494Ter)
c.1437C>G (p.Tyr479Ter)
c.1260C>G (p.Tyr420Ter)
c.1092C>G (p.Tyr364Ter)
c.994-21310C>G (n.994-21310C>G)
18g.49118825G=CA2302066403DYMc.1830C= (p.Tyr610=)
c.1665C= (p.Tyr555=)
c.1095C= (p.Tyr365=)
c.1662C= (p.Tyr554=)
c.1497C= (p.Tyr499=)
c.1564-21310C= (n.1564-21310C=)
c.1827C= (p.Tyr609=)
c.1729-21310C= (n.1729-21310C=)
c.1659C= (p.Tyr553=)
c.1485C= (p.Tyr495=)
c.1561-21310C= (n.1561-21310C=)
c.1558-21310C= (n.1558-21310C=)
n.2022C=
c.1824C= (p.Tyr608=)
c.1704C= (p.Tyr568=)
c.1539C= (p.Tyr513=)
c.1482C= (p.Tyr494=)
c.1437C= (p.Tyr479=)
c.1260C= (p.Tyr420=)
c.1092C= (p.Tyr364=)
c.994-21310C= (n.994-21310C=)
18g.49118825G>TCA402507140DYMc.1830C>A (p.Tyr610Ter)
c.1665C>A (p.Tyr555Ter)
c.1095C>A (p.Tyr365Ter)
c.1662C>A (p.Tyr554Ter)
c.1497C>A (p.Tyr499Ter)
c.1564-21310C>A (n.1564-21310C>A)
c.1827C>A (p.Tyr609Ter)
c.1729-21310C>A (n.1729-21310C>A)
c.1659C>A (p.Tyr553Ter)
c.1485C>A (p.Tyr495Ter)
c.1561-21310C>A (n.1561-21310C>A)
c.1558-21310C>A (n.1558-21310C>A)
n.2022C>A
c.1824C>A (p.Tyr608Ter)
c.1704C>A (p.Tyr568Ter)
c.1539C>A (p.Tyr513Ter)
c.1482C>A (p.Tyr494Ter)
c.1437C>A (p.Tyr479Ter)
c.1260C>A (p.Tyr420Ter)
c.1092C>A (p.Tyr364Ter)
c.994-21310C>A (n.994-21310C>A)
18g.49118826T>ACA402507141DYMc.1829A>T (p.Tyr610Phe)
c.1664A>T (p.Tyr555Phe)
c.1094A>T (p.Tyr365Phe)
c.1661A>T (p.Tyr554Phe)
c.1496A>T (p.Tyr499Phe)
c.1564-21311A>T (n.1564-21311A>T)
c.1826A>T (p.Tyr609Phe)
c.1729-21311A>T (n.1729-21311A>T)
c.1658A>T (p.Tyr553Phe)
c.1484A>T (p.Tyr495Phe)
c.1561-21311A>T (n.1561-21311A>T)
c.1558-21311A>T (n.1558-21311A>T)
n.2021A>T
c.1823A>T (p.Tyr608Phe)
c.1703A>T (p.Tyr568Phe)
c.1538A>T (p.Tyr513Phe)
c.1481A>T (p.Tyr494Phe)
c.1436A>T (p.Tyr479Phe)
c.1259A>T (p.Tyr420Phe)
c.1091A>T (p.Tyr364Phe)
c.994-21311A>T (n.994-21311A>T)
18g.49118826T>CCA402507142DYMc.1829A>G (p.Tyr610Cys)
c.1664A>G (p.Tyr555Cys)
c.1094A>G (p.Tyr365Cys)
c.1661A>G (p.Tyr554Cys)
c.1496A>G (p.Tyr499Cys)
c.1564-21311A>G (n.1564-21311A>G)
c.1826A>G (p.Tyr609Cys)
c.1729-21311A>G (n.1729-21311A>G)
c.1658A>G (p.Tyr553Cys)
c.1484A>G (p.Tyr495Cys)
c.1561-21311A>G (n.1561-21311A>G)
c.1558-21311A>G (n.1558-21311A>G)
n.2021A>G
c.1823A>G (p.Tyr608Cys)
c.1703A>G (p.Tyr568Cys)
c.1538A>G (p.Tyr513Cys)
c.1481A>G (p.Tyr494Cys)
c.1436A>G (p.Tyr479Cys)
c.1259A>G (p.Tyr420Cys)
c.1091A>G (p.Tyr364Cys)
c.994-21311A>G (n.994-21311A>G)
 dbSNP
18g.49118826T>GCA402507143DYMc.1829A>C (p.Tyr610Ser)
c.1664A>C (p.Tyr555Ser)
c.1094A>C (p.Tyr365Ser)
c.1661A>C (p.Tyr554Ser)
c.1496A>C (p.Tyr499Ser)
c.1564-21311A>C (n.1564-21311A>C)
c.1826A>C (p.Tyr609Ser)
c.1729-21311A>C (n.1729-21311A>C)
c.1658A>C (p.Tyr553Ser)
c.1484A>C (p.Tyr495Ser)
c.1561-21311A>C (n.1561-21311A>C)
c.1558-21311A>C (n.1558-21311A>C)
n.2021A>C
c.1823A>C (p.Tyr608Ser)
c.1703A>C (p.Tyr568Ser)
c.1538A>C (p.Tyr513Ser)
c.1481A>C (p.Tyr494Ser)
c.1436A>C (p.Tyr479Ser)
c.1259A>C (p.Tyr420Ser)
c.1091A>C (p.Tyr364Ser)
c.994-21311A>C (n.994-21311A>C)
18g.49118826T=CA2302066404DYMc.1829A= (p.Tyr610=)
c.1664A= (p.Tyr555=)
c.1094A= (p.Tyr365=)
c.1661A= (p.Tyr554=)
c.1496A= (p.Tyr499=)
c.1564-21311A= (n.1564-21311A=)
c.1826A= (p.Tyr609=)
c.1729-21311A= (n.1729-21311A=)
c.1658A= (p.Tyr553=)
c.1484A= (p.Tyr495=)
c.1561-21311A= (n.1561-21311A=)
c.1558-21311A= (n.1558-21311A=)
n.2021A=
c.1823A= (p.Tyr608=)
c.1703A= (p.Tyr568=)
c.1538A= (p.Tyr513=)
c.1481A= (p.Tyr494=)
c.1436A= (p.Tyr479=)
c.1259A= (p.Tyr420=)
c.1091A= (p.Tyr364=)
c.994-21311A= (n.994-21311A=)
18g.49118828_49118829dupCA2641764526DYMc.1828_1829dup (p.Ala611ThrfsTer22)
c.1663_1664dup (p.Ala556ThrfsTer22)
c.1093_1094dup (p.Ala366ThrfsTer22)
c.1660_1661dup (p.Ala555ThrfsTer22)
c.1495_1496dup (p.Ala500ThrfsTer22)
c.1564-21312_1564-21311dup (n.1564-21312_1564-21311dup)
c.1825_1826dup (p.Ala610ThrfsTer22)
c.1729-21312_1729-21311dup (n.1729-21312_1729-21311dup)
c.1657_1658dup (p.Ala554ThrfsTer22)
c.1483_1484dup (p.Ala496ThrfsTer22)
c.1561-21312_1561-21311dup (n.1561-21312_1561-21311dup)
c.1558-21312_1558-21311dup (n.1558-21312_1558-21311dup)
n.2020_2021dup
c.1822_1823dup (p.Ala609ThrfsTer22)
c.1702_1703dup (p.Ala569ThrfsTer22)
c.1537_1538dup (p.Ala514ThrfsTer22)
c.1480_1481dup (p.Ala495ThrfsTer22)
c.1435_1436dup (p.Ala480ThrfsTer22)
c.1258_1259dup (p.Ala421ThrfsTer22)
c.1090_1091dup (p.Ala365ThrfsTer22)
c.994-21312_994-21311dup (n.994-21312_994-21311dup)
 gnomAD v4
18g.49118827A>CCA402507144DYMc.1828T>G (p.Tyr610Asp)
c.1663T>G (p.Tyr555Asp)
c.1093T>G (p.Tyr365Asp)
c.1660T>G (p.Tyr554Asp)
c.1495T>G (p.Tyr499Asp)
c.1564-21312T>G (n.1564-21312T>G)
c.1825T>G (p.Tyr609Asp)
c.1729-21312T>G (n.1729-21312T>G)
c.1657T>G (p.Tyr553Asp)
c.1483T>G (p.Tyr495Asp)
c.1561-21312T>G (n.1561-21312T>G)
c.1558-21312T>G (n.1558-21312T>G)
n.2020T>G
c.1822T>G (p.Tyr608Asp)
c.1702T>G (p.Tyr568Asp)
c.1537T>G (p.Tyr513Asp)
c.1480T>G (p.Tyr494Asp)
c.1435T>G (p.Tyr479Asp)
c.1258T>G (p.Tyr420Asp)
c.1090T>G (p.Tyr364Asp)
c.994-21312T>G (n.994-21312T>G)
18g.49118827A>GCA402507145DYMc.1828T>C (p.Tyr610His)
c.1663T>C (p.Tyr555His)
c.1093T>C (p.Tyr365His)
c.1660T>C (p.Tyr554His)
c.1495T>C (p.Tyr499His)
c.1564-21312T>C (n.1564-21312T>C)
c.1825T>C (p.Tyr609His)
c.1729-21312T>C (n.1729-21312T>C)
c.1657T>C (p.Tyr553His)
c.1483T>C (p.Tyr495His)
c.1561-21312T>C (n.1561-21312T>C)
c.1558-21312T>C (n.1558-21312T>C)
n.2020T>C
c.1822T>C (p.Tyr608His)
c.1702T>C (p.Tyr568His)
c.1537T>C (p.Tyr513His)
c.1480T>C (p.Tyr494His)
c.1435T>C (p.Tyr479His)
c.1258T>C (p.Tyr420His)
c.1090T>C (p.Tyr364His)
c.994-21312T>C (n.994-21312T>C)
18g.49118827A>TCA402507146DYMc.1828T>A (p.Tyr610Asn)
c.1663T>A (p.Tyr555Asn)
c.1093T>A (p.Tyr365Asn)
c.1660T>A (p.Tyr554Asn)
c.1495T>A (p.Tyr499Asn)
c.1564-21312T>A (n.1564-21312T>A)
c.1825T>A (p.Tyr609Asn)
c.1729-21312T>A (n.1729-21312T>A)
c.1657T>A (p.Tyr553Asn)
c.1483T>A (p.Tyr495Asn)
c.1561-21312T>A (n.1561-21312T>A)
c.1558-21312T>A (n.1558-21312T>A)
n.2020T>A
c.1822T>A (p.Tyr608Asn)
c.1702T>A (p.Tyr568Asn)
c.1537T>A (p.Tyr513Asn)
c.1480T>A (p.Tyr494Asn)
c.1435T>A (p.Tyr479Asn)
c.1258T>A (p.Tyr420Asn)
c.1090T>A (p.Tyr364Asn)
c.994-21312T>A (n.994-21312T>A)
18g.49118828T>ACA503936341DYMc.1827A>T (p.Val609=)
c.1662A>T (p.Val554=)
c.1092A>T (p.Val364=)
c.1659A>T (p.Val553=)
c.1494A>T (p.Val498=)
c.1564-21313A>T (n.1564-21313A>T)
c.1824A>T (p.Val608=)
c.1729-21313A>T (n.1729-21313A>T)
c.1656A>T (p.Val552=)
c.1482A>T (p.Val494=)
c.1561-21313A>T (n.1561-21313A>T)
c.1558-21313A>T (n.1558-21313A>T)
n.2019A>T
c.1821A>T (p.Val607=)
c.1701A>T (p.Val567=)
c.1536A>T (p.Val512=)
c.1479A>T (p.Val493=)
c.1434A>T (p.Val478=)
c.1257A>T (p.Val419=)
c.1089A>T (p.Val363=)
c.994-21313A>T (n.994-21313A>T)
18g.49118828T>CCA240566DYMc.1827A>G (p.Val609=)
c.1662A>G (p.Val554=)
c.1092A>G (p.Val364=)
c.1659A>G (p.Val553=)
c.1494A>G (p.Val498=)
c.1564-21313A>G (n.1564-21313A>G)
c.1824A>G (p.Val608=)
c.1729-21313A>G (n.1729-21313A>G)
c.1656A>G (p.Val552=)
c.1482A>G (p.Val494=)
c.1561-21313A>G (n.1561-21313A>G)
c.1558-21313A>G (n.1558-21313A>G)
n.2019A>G
c.1821A>G (p.Val607=)
c.1701A>G (p.Val567=)
c.1536A>G (p.Val512=)
c.1479A>G (p.Val493=)
c.1434A>G (p.Val478=)
c.1257A>G (p.Val419=)
c.1089A>G (p.Val363=)
c.994-21313A>G (n.994-21313A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.49118828T>GCA503936340DYMc.1827A>C (p.Val609=)
c.1662A>C (p.Val554=)
c.1092A>C (p.Val364=)
c.1659A>C (p.Val553=)
c.1494A>C (p.Val498=)
c.1564-21313A>C (n.1564-21313A>C)
c.1824A>C (p.Val608=)
c.1729-21313A>C (n.1729-21313A>C)
c.1656A>C (p.Val552=)
c.1482A>C (p.Val494=)
c.1561-21313A>C (n.1561-21313A>C)
c.1558-21313A>C (n.1558-21313A>C)
n.2019A>C
c.1821A>C (p.Val607=)
c.1701A>C (p.Val567=)
c.1536A>C (p.Val512=)
c.1479A>C (p.Val493=)
c.1434A>C (p.Val478=)
c.1257A>C (p.Val419=)
c.1089A>C (p.Val363=)
c.994-21313A>C (n.994-21313A>C)
18g.49118828T=CA2302066405DYMc.1827A= (p.Val609=)
c.1662A= (p.Val554=)
c.1092A= (p.Val364=)
c.1659A= (p.Val553=)
c.1494A= (p.Val498=)
c.1564-21313A= (n.1564-21313A=)
c.1824A= (p.Val608=)
c.1729-21313A= (n.1729-21313A=)
c.1656A= (p.Val552=)
c.1482A= (p.Val494=)
c.1561-21313A= (n.1561-21313A=)
c.1558-21313A= (n.1558-21313A=)
n.2019A=
c.1821A= (p.Val607=)
c.1701A= (p.Val567=)
c.1536A= (p.Val512=)
c.1479A= (p.Val493=)
c.1434A= (p.Val478=)
c.1257A= (p.Val419=)
c.1089A= (p.Val363=)
c.994-21313A= (n.994-21313A=)
18g.49118829A=CA2302066406DYMc.1826T= (p.Val609=)
c.1661T= (p.Val554=)
c.1091T= (p.Val364=)
c.1658T= (p.Val553=)
c.1493T= (p.Val498=)
c.1564-21314T= (n.1564-21314T=)
c.1823T= (p.Val608=)
c.1729-21314T= (n.1729-21314T=)
c.1655T= (p.Val552=)
c.1481T= (p.Val494=)
c.1561-21314T= (n.1561-21314T=)
c.1558-21314T= (n.1558-21314T=)
n.2018T=
c.1820T= (p.Val607=)
c.1700T= (p.Val567=)
c.1535T= (p.Val512=)
c.1478T= (p.Val493=)
c.1433T= (p.Val478=)
c.1256T= (p.Val419=)
c.1088T= (p.Val363=)
c.994-21314T= (n.994-21314T=)
18g.49118829A>CCA402507147DYMc.1826T>G (p.Val609Gly)
c.1661T>G (p.Val554Gly)
c.1091T>G (p.Val364Gly)
c.1658T>G (p.Val553Gly)
c.1493T>G (p.Val498Gly)
c.1564-21314T>G (n.1564-21314T>G)
c.1823T>G (p.Val608Gly)
c.1729-21314T>G (n.1729-21314T>G)
c.1655T>G (p.Val552Gly)
c.1481T>G (p.Val494Gly)
c.1561-21314T>G (n.1561-21314T>G)
c.1558-21314T>G (n.1558-21314T>G)
n.2018T>G
c.1820T>G (p.Val607Gly)
c.1700T>G (p.Val567Gly)
c.1535T>G (p.Val512Gly)
c.1478T>G (p.Val493Gly)
c.1433T>G (p.Val478Gly)
c.1256T>G (p.Val419Gly)
c.1088T>G (p.Val363Gly)
c.994-21314T>G (n.994-21314T>G)
18g.49118829A>GCA402507148DYMc.1826T>C (p.Val609Ala)
c.1661T>C (p.Val554Ala)
c.1091T>C (p.Val364Ala)
c.1658T>C (p.Val553Ala)
c.1493T>C (p.Val498Ala)
c.1564-21314T>C (n.1564-21314T>C)
c.1823T>C (p.Val608Ala)
c.1729-21314T>C (n.1729-21314T>C)
c.1655T>C (p.Val552Ala)
c.1481T>C (p.Val494Ala)
c.1561-21314T>C (n.1561-21314T>C)
c.1558-21314T>C (n.1558-21314T>C)
n.2018T>C
c.1820T>C (p.Val607Ala)
c.1700T>C (p.Val567Ala)
c.1535T>C (p.Val512Ala)
c.1478T>C (p.Val493Ala)
c.1433T>C (p.Val478Ala)
c.1256T>C (p.Val419Ala)
c.1088T>C (p.Val363Ala)
c.994-21314T>C (n.994-21314T>C)
 dbSNP
18g.49118829A>TCA402507149DYMc.1826T>A (p.Val609Glu)
c.1661T>A (p.Val554Glu)
c.1091T>A (p.Val364Glu)
c.1658T>A (p.Val553Glu)
c.1493T>A (p.Val498Glu)
c.1564-21314T>A (n.1564-21314T>A)
c.1823T>A (p.Val608Glu)
c.1729-21314T>A (n.1729-21314T>A)
c.1655T>A (p.Val552Glu)
c.1481T>A (p.Val494Glu)
c.1561-21314T>A (n.1561-21314T>A)
c.1558-21314T>A (n.1558-21314T>A)
n.2018T>A
c.1820T>A (p.Val607Glu)
c.1700T>A (p.Val567Glu)
c.1535T>A (p.Val512Glu)
c.1478T>A (p.Val493Glu)
c.1433T>A (p.Val478Glu)
c.1256T>A (p.Val419Glu)
c.1088T>A (p.Val363Glu)
c.994-21314T>A (n.994-21314T>A)
18g.49118830C>ACA402507151DYMc.1825G>T (p.Val609Leu)
c.1660G>T (p.Val554Leu)
c.1090G>T (p.Val364Leu)
c.1657G>T (p.Val553Leu)
c.1492G>T (p.Val498Leu)
c.1564-21315G>T (n.1564-21315G>T)
c.1822G>T (p.Val608Leu)
c.1729-21315G>T (n.1729-21315G>T)
c.1654G>T (p.Val552Leu)
c.1480G>T (p.Val494Leu)
c.1561-21315G>T (n.1561-21315G>T)
c.1558-21315G>T (n.1558-21315G>T)
n.2017G>T
c.1819G>T (p.Val607Leu)
c.1699G>T (p.Val567Leu)
c.1534G>T (p.Val512Leu)
c.1477G>T (p.Val493Leu)
c.1432G>T (p.Val478Leu)
c.1255G>T (p.Val419Leu)
c.1087G>T (p.Val363Leu)
c.994-21315G>T (n.994-21315G>T)
18g.49118830C=CA2302066407DYMc.1825G= (p.Val609=)
c.1660G= (p.Val554=)
c.1090G= (p.Val364=)
c.1657G= (p.Val553=)
c.1492G= (p.Val498=)
c.1564-21315G= (n.1564-21315G=)
c.1822G= (p.Val608=)
c.1729-21315G= (n.1729-21315G=)
c.1654G= (p.Val552=)
c.1480G= (p.Val494=)
c.1561-21315G= (n.1561-21315G=)
c.1558-21315G= (n.1558-21315G=)
n.2017G=
c.1819G= (p.Val607=)
c.1699G= (p.Val567=)
c.1534G= (p.Val512=)
c.1477G= (p.Val493=)
c.1432G= (p.Val478=)
c.1255G= (p.Val419=)
c.1087G= (p.Val363=)
c.994-21315G= (n.994-21315G=)
18g.49118830C>GCA402507150DYMc.1825G>C (p.Val609Leu)
c.1660G>C (p.Val554Leu)
c.1090G>C (p.Val364Leu)
c.1657G>C (p.Val553Leu)
c.1492G>C (p.Val498Leu)
c.1564-21315G>C (n.1564-21315G>C)
c.1822G>C (p.Val608Leu)
c.1729-21315G>C (n.1729-21315G>C)
c.1654G>C (p.Val552Leu)
c.1480G>C (p.Val494Leu)
c.1561-21315G>C (n.1561-21315G>C)
c.1558-21315G>C (n.1558-21315G>C)
n.2017G>C
c.1819G>C (p.Val607Leu)
c.1699G>C (p.Val567Leu)
c.1534G>C (p.Val512Leu)
c.1477G>C (p.Val493Leu)
c.1432G>C (p.Val478Leu)
c.1255G>C (p.Val419Leu)
c.1087G>C (p.Val363Leu)
c.994-21315G>C (n.994-21315G>C)
18g.49118830C>TCA300360640DYMc.1825G>A (p.Val609Ile)
c.1660G>A (p.Val554Ile)
c.1090G>A (p.Val364Ile)
c.1657G>A (p.Val553Ile)
c.1492G>A (p.Val498Ile)
c.1564-21315G>A (n.1564-21315G>A)
c.1822G>A (p.Val608Ile)
c.1729-21315G>A (n.1729-21315G>A)
c.1654G>A (p.Val552Ile)
c.1480G>A (p.Val494Ile)
c.1561-21315G>A (n.1561-21315G>A)
c.1558-21315G>A (n.1558-21315G>A)
n.2017G>A
c.1819G>A (p.Val607Ile)
c.1699G>A (p.Val567Ile)
c.1534G>A (p.Val512Ile)
c.1477G>A (p.Val493Ile)
c.1432G>A (p.Val478Ile)
c.1255G>A (p.Val419Ile)
c.1087G>A (p.Val363Ile)
c.994-21315G>A (n.994-21315G>A)
 dbSNP gnomAD v4
18g.49118831C>ACA402507152DYMc.1824G>T (p.Leu608Phe)
c.1659G>T (p.Leu553Phe)
c.1089G>T (p.Leu363Phe)
c.1656G>T (p.Leu552Phe)
c.1491G>T (p.Leu497Phe)
c.1564-21316G>T (n.1564-21316G>T)
c.1821G>T (p.Leu607Phe)
c.1729-21316G>T (n.1729-21316G>T)
c.1653G>T (p.Leu551Phe)
c.1479G>T (p.Leu493Phe)
c.1561-21316G>T (n.1561-21316G>T)
c.1558-21316G>T (n.1558-21316G>T)
n.2016G>T
c.1818G>T (p.Leu606Phe)
c.1698G>T (p.Leu566Phe)
c.1533G>T (p.Leu511Phe)
c.1476G>T (p.Leu492Phe)
c.1431G>T (p.Leu477Phe)
c.1254G>T (p.Leu418Phe)
c.1086G>T (p.Leu362Phe)
c.994-21316G>T (n.994-21316G>T)
18g.49118831C>GCA402507153DYMc.1824G>C (p.Leu608Phe)
c.1659G>C (p.Leu553Phe)
c.1089G>C (p.Leu363Phe)
c.1656G>C (p.Leu552Phe)
c.1491G>C (p.Leu497Phe)
c.1564-21316G>C (n.1564-21316G>C)
c.1821G>C (p.Leu607Phe)
c.1729-21316G>C (n.1729-21316G>C)
c.1653G>C (p.Leu551Phe)
c.1479G>C (p.Leu493Phe)
c.1561-21316G>C (n.1561-21316G>C)
c.1558-21316G>C (n.1558-21316G>C)
n.2016G>C
c.1818G>C (p.Leu606Phe)
c.1698G>C (p.Leu566Phe)
c.1533G>C (p.Leu511Phe)
c.1476G>C (p.Leu492Phe)
c.1431G>C (p.Leu477Phe)
c.1254G>C (p.Leu418Phe)
c.1086G>C (p.Leu362Phe)
c.994-21316G>C (n.994-21316G>C)
18g.49118831C>TCA503936342DYMc.1824G>A (p.Leu608=)
c.1659G>A (p.Leu553=)
c.1089G>A (p.Leu363=)
c.1656G>A (p.Leu552=)
c.1491G>A (p.Leu497=)
c.1564-21316G>A (n.1564-21316G>A)
c.1821G>A (p.Leu607=)
c.1729-21316G>A (n.1729-21316G>A)
c.1653G>A (p.Leu551=)
c.1479G>A (p.Leu493=)
c.1561-21316G>A (n.1561-21316G>A)
c.1558-21316G>A (n.1558-21316G>A)
n.2016G>A
c.1818G>A (p.Leu606=)
c.1698G>A (p.Leu566=)
c.1533G>A (p.Leu511=)
c.1476G>A (p.Leu492=)
c.1431G>A (p.Leu477=)
c.1254G>A (p.Leu418=)
c.1086G>A (p.Leu362=)
c.994-21316G>A (n.994-21316G>A)
 COSMIC
18g.49118832A>CCA402507154DYMc.1823T>G (p.Leu608Trp)
c.1658T>G (p.Leu553Trp)
c.1088T>G (p.Leu363Trp)
c.1655T>G (p.Leu552Trp)
c.1490T>G (p.Leu497Trp)
c.1564-21317T>G (n.1564-21317T>G)
c.1820T>G (p.Leu607Trp)
c.1729-21317T>G (n.1729-21317T>G)
c.1652T>G (p.Leu551Trp)
c.1478T>G (p.Leu493Trp)
c.1561-21317T>G (n.1561-21317T>G)
c.1558-21317T>G (n.1558-21317T>G)
n.2015T>G
c.1817T>G (p.Leu606Trp)
c.1697T>G (p.Leu566Trp)
c.1532T>G (p.Leu511Trp)
c.1475T>G (p.Leu492Trp)
c.1430T>G (p.Leu477Trp)
c.1253T>G (p.Leu418Trp)
c.1085T>G (p.Leu362Trp)
c.994-21317T>G (n.994-21317T>G)
18g.49118832A>GCA402507155DYMc.1823T>C (p.Leu608Ser)
c.1658T>C (p.Leu553Ser)
c.1088T>C (p.Leu363Ser)
c.1655T>C (p.Leu552Ser)
c.1490T>C (p.Leu497Ser)
c.1564-21317T>C (n.1564-21317T>C)
c.1820T>C (p.Leu607Ser)
c.1729-21317T>C (n.1729-21317T>C)
c.1652T>C (p.Leu551Ser)
c.1478T>C (p.Leu493Ser)
c.1561-21317T>C (n.1561-21317T>C)
c.1558-21317T>C (n.1558-21317T>C)
n.2015T>C
c.1817T>C (p.Leu606Ser)
c.1697T>C (p.Leu566Ser)
c.1532T>C (p.Leu511Ser)
c.1475T>C (p.Leu492Ser)
c.1430T>C (p.Leu477Ser)
c.1253T>C (p.Leu418Ser)
c.1085T>C (p.Leu362Ser)
c.994-21317T>C (n.994-21317T>C)
18g.49118832A>TCA402507156DYMc.1823T>A (p.Leu608Ter)
c.1658T>A (p.Leu553Ter)
c.1088T>A (p.Leu363Ter)
c.1655T>A (p.Leu552Ter)
c.1490T>A (p.Leu497Ter)
c.1564-21317T>A (n.1564-21317T>A)
c.1820T>A (p.Leu607Ter)
c.1729-21317T>A (n.1729-21317T>A)
c.1652T>A (p.Leu551Ter)
c.1478T>A (p.Leu493Ter)
c.1561-21317T>A (n.1561-21317T>A)
c.1558-21317T>A (n.1558-21317T>A)
n.2015T>A
c.1817T>A (p.Leu606Ter)
c.1697T>A (p.Leu566Ter)
c.1532T>A (p.Leu511Ter)
c.1475T>A (p.Leu492Ter)
c.1430T>A (p.Leu477Ter)
c.1253T>A (p.Leu418Ter)
c.1085T>A (p.Leu362Ter)
c.994-21317T>A (n.994-21317T>A)
18g.49118833A>CCA402507157DYMc.1822T>G (p.Leu608Val)
c.1657T>G (p.Leu553Val)
c.1087T>G (p.Leu363Val)
c.1654T>G (p.Leu552Val)
c.1489T>G (p.Leu497Val)
c.1564-21318T>G (n.1564-21318T>G)
c.1819T>G (p.Leu607Val)
c.1729-21318T>G (n.1729-21318T>G)
c.1651T>G (p.Leu551Val)
c.1477T>G (p.Leu493Val)
c.1561-21318T>G (n.1561-21318T>G)
c.1558-21318T>G (n.1558-21318T>G)
n.2014T>G
c.1816T>G (p.Leu606Val)
c.1696T>G (p.Leu566Val)
c.1531T>G (p.Leu511Val)
c.1474T>G (p.Leu492Val)
c.1429T>G (p.Leu477Val)
c.1252T>G (p.Leu418Val)
c.1084T>G (p.Leu362Val)
c.994-21318T>G (n.994-21318T>G)
18g.49118833A>GCA503936344DYMc.1822T>C (p.Leu608=)
c.1657T>C (p.Leu553=)
c.1087T>C (p.Leu363=)
c.1654T>C (p.Leu552=)
c.1489T>C (p.Leu497=)
c.1564-21318T>C (n.1564-21318T>C)
c.1819T>C (p.Leu607=)
c.1729-21318T>C (n.1729-21318T>C)
c.1651T>C (p.Leu551=)
c.1477T>C (p.Leu493=)
c.1561-21318T>C (n.1561-21318T>C)
c.1558-21318T>C (n.1558-21318T>C)
n.2014T>C
c.1816T>C (p.Leu606=)
c.1696T>C (p.Leu566=)
c.1531T>C (p.Leu511=)
c.1474T>C (p.Leu492=)
c.1429T>C (p.Leu477=)
c.1252T>C (p.Leu418=)
c.1084T>C (p.Leu362=)
c.994-21318T>C (n.994-21318T>C)
18g.49118833A>TCA402507158DYMc.1822T>A (p.Leu608Met)
c.1657T>A (p.Leu553Met)
c.1087T>A (p.Leu363Met)
c.1654T>A (p.Leu552Met)
c.1489T>A (p.Leu497Met)
c.1564-21318T>A (n.1564-21318T>A)
c.1819T>A (p.Leu607Met)
c.1729-21318T>A (n.1729-21318T>A)
c.1651T>A (p.Leu551Met)
c.1477T>A (p.Leu493Met)
c.1561-21318T>A (n.1561-21318T>A)
c.1558-21318T>A (n.1558-21318T>A)
n.2014T>A
c.1816T>A (p.Leu606Met)
c.1696T>A (p.Leu566Met)
c.1531T>A (p.Leu511Met)
c.1474T>A (p.Leu492Met)
c.1429T>A (p.Leu477Met)
c.1252T>A (p.Leu418Met)
c.1084T>A (p.Leu362Met)
c.994-21318T>A (n.994-21318T>A)
18g.49118834G>ACA503936345DYMc.1821C>T (p.Asn607=)
c.1656C>T (p.Asn552=)
c.1086C>T (p.Asn362=)
c.1653C>T (p.Asn551=)
c.1488C>T (p.Asn496=)
c.1564-21319C>T (n.1564-21319C>T)
c.1818C>T (p.Asn606=)
c.1729-21319C>T (n.1729-21319C>T)
c.1650C>T (p.Asn550=)
c.1476C>T (p.Asn492=)
c.1561-21319C>T (n.1561-21319C>T)
c.1558-21319C>T (n.1558-21319C>T)
n.2013C>T
c.1815C>T (p.Asn605=)
c.1695C>T (p.Asn565=)
c.1530C>T (p.Asn510=)
c.1473C>T (p.Asn491=)
c.1428C>T (p.Asn476=)
c.1251C>T (p.Asn417=)
c.1083C>T (p.Asn361=)
c.994-21319C>T (n.994-21319C>T)
 gnomAD v4
18g.49118834G>CCA402507159DYMc.1821C>G (p.Asn607Lys)
c.1656C>G (p.Asn552Lys)
c.1086C>G (p.Asn362Lys)
c.1653C>G (p.Asn551Lys)
c.1488C>G (p.Asn496Lys)
c.1564-21319C>G (n.1564-21319C>G)
c.1818C>G (p.Asn606Lys)
c.1729-21319C>G (n.1729-21319C>G)
c.1650C>G (p.Asn550Lys)
c.1476C>G (p.Asn492Lys)
c.1561-21319C>G (n.1561-21319C>G)
c.1558-21319C>G (n.1558-21319C>G)
n.2013C>G
c.1815C>G (p.Asn605Lys)
c.1695C>G (p.Asn565Lys)
c.1530C>G (p.Asn510Lys)
c.1473C>G (p.Asn491Lys)
c.1428C>G (p.Asn476Lys)
c.1251C>G (p.Asn417Lys)
c.1083C>G (p.Asn361Lys)
c.994-21319C>G (n.994-21319C>G)
18g.49118834G>TCA402507160DYMc.1821C>A (p.Asn607Lys)
c.1656C>A (p.Asn552Lys)
c.1086C>A (p.Asn362Lys)
c.1653C>A (p.Asn551Lys)
c.1488C>A (p.Asn496Lys)
c.1564-21319C>A (n.1564-21319C>A)
c.1818C>A (p.Asn606Lys)
c.1729-21319C>A (n.1729-21319C>A)
c.1650C>A (p.Asn550Lys)
c.1476C>A (p.Asn492Lys)
c.1561-21319C>A (n.1561-21319C>A)
c.1558-21319C>A (n.1558-21319C>A)
n.2013C>A
c.1815C>A (p.Asn605Lys)
c.1695C>A (p.Asn565Lys)
c.1530C>A (p.Asn510Lys)
c.1473C>A (p.Asn491Lys)
c.1428C>A (p.Asn476Lys)
c.1251C>A (p.Asn417Lys)
c.1083C>A (p.Asn361Lys)
c.994-21319C>A (n.994-21319C>A)
18g.49118835T>ACA402507161DYMc.1820A>T (p.Asn607Ile)
c.1655A>T (p.Asn552Ile)
c.1085A>T (p.Asn362Ile)
c.1652A>T (p.Asn551Ile)
c.1487A>T (p.Asn496Ile)
c.1564-21320A>T (n.1564-21320A>T)
c.1817A>T (p.Asn606Ile)
c.1729-21320A>T (n.1729-21320A>T)
c.1649A>T (p.Asn550Ile)
c.1475A>T (p.Asn492Ile)
c.1561-21320A>T (n.1561-21320A>T)
c.1558-21320A>T (n.1558-21320A>T)
n.2012A>T
c.1814A>T (p.Asn605Ile)
c.1694A>T (p.Asn565Ile)
c.1529A>T (p.Asn510Ile)
c.1472A>T (p.Asn491Ile)
c.1427A>T (p.Asn476Ile)
c.1250A>T (p.Asn417Ile)
c.1082A>T (p.Asn361Ile)
c.994-21320A>T (n.994-21320A>T)
18g.49118835T>CCA402507162DYMc.1820A>G (p.Asn607Ser)
c.1655A>G (p.Asn552Ser)
c.1085A>G (p.Asn362Ser)
c.1652A>G (p.Asn551Ser)
c.1487A>G (p.Asn496Ser)
c.1564-21320A>G (n.1564-21320A>G)
c.1817A>G (p.Asn606Ser)
c.1729-21320A>G (n.1729-21320A>G)
c.1649A>G (p.Asn550Ser)
c.1475A>G (p.Asn492Ser)
c.1561-21320A>G (n.1561-21320A>G)
c.1558-21320A>G (n.1558-21320A>G)
n.2012A>G
c.1814A>G (p.Asn605Ser)
c.1694A>G (p.Asn565Ser)
c.1529A>G (p.Asn510Ser)
c.1472A>G (p.Asn491Ser)
c.1427A>G (p.Asn476Ser)
c.1250A>G (p.Asn417Ser)
c.1082A>G (p.Asn361Ser)
c.994-21320A>G (n.994-21320A>G)
18g.49118835T>GCA402507163DYMc.1820A>C (p.Asn607Thr)
c.1655A>C (p.Asn552Thr)
c.1085A>C (p.Asn362Thr)
c.1652A>C (p.Asn551Thr)
c.1487A>C (p.Asn496Thr)
c.1564-21320A>C (n.1564-21320A>C)
c.1817A>C (p.Asn606Thr)
c.1729-21320A>C (n.1729-21320A>C)
c.1649A>C (p.Asn550Thr)
c.1475A>C (p.Asn492Thr)
c.1561-21320A>C (n.1561-21320A>C)
c.1558-21320A>C (n.1558-21320A>C)
n.2012A>C
c.1814A>C (p.Asn605Thr)
c.1694A>C (p.Asn565Thr)
c.1529A>C (p.Asn510Thr)
c.1472A>C (p.Asn491Thr)
c.1427A>C (p.Asn476Thr)
c.1250A>C (p.Asn417Thr)
c.1082A>C (p.Asn361Thr)
c.994-21320A>C (n.994-21320A>C)
18g.49118836T>ACA402507164DYMc.1819A>T (p.Asn607Tyr)
c.1654A>T (p.Asn552Tyr)
c.1084A>T (p.Asn362Tyr)
c.1651A>T (p.Asn551Tyr)
c.1486A>T (p.Asn496Tyr)
c.1564-21321A>T (n.1564-21321A>T)
c.1816A>T (p.Asn606Tyr)
c.1729-21321A>T (n.1729-21321A>T)
c.1648A>T (p.Asn550Tyr)
c.1474A>T (p.Asn492Tyr)
c.1561-21321A>T (n.1561-21321A>T)
c.1558-21321A>T (n.1558-21321A>T)
n.2011A>T
c.1813A>T (p.Asn605Tyr)
c.1693A>T (p.Asn565Tyr)
c.1528A>T (p.Asn510Tyr)
c.1471A>T (p.Asn491Tyr)
c.1426A>T (p.Asn476Tyr)
c.1249A>T (p.Asn417Tyr)
c.1081A>T (p.Asn361Tyr)
c.994-21321A>T (n.994-21321A>T)
18g.49118836T>CCA402507166DYMc.1819A>G (p.Asn607Asp)
c.1654A>G (p.Asn552Asp)
c.1084A>G (p.Asn362Asp)
c.1651A>G (p.Asn551Asp)
c.1486A>G (p.Asn496Asp)
c.1564-21321A>G (n.1564-21321A>G)
c.1816A>G (p.Asn606Asp)
c.1729-21321A>G (n.1729-21321A>G)
c.1648A>G (p.Asn550Asp)
c.1474A>G (p.Asn492Asp)
c.1561-21321A>G (n.1561-21321A>G)
c.1558-21321A>G (n.1558-21321A>G)
n.2011A>G
c.1813A>G (p.Asn605Asp)
c.1693A>G (p.Asn565Asp)
c.1528A>G (p.Asn510Asp)
c.1471A>G (p.Asn491Asp)
c.1426A>G (p.Asn476Asp)
c.1249A>G (p.Asn417Asp)
c.1081A>G (p.Asn361Asp)
c.994-21321A>G (n.994-21321A>G)
18g.49118836T>GCA402507165DYMc.1819A>C (p.Asn607His)
c.1654A>C (p.Asn552His)
c.1084A>C (p.Asn362His)
c.1651A>C (p.Asn551His)
c.1486A>C (p.Asn496His)
c.1564-21321A>C (n.1564-21321A>C)
c.1816A>C (p.Asn606His)
c.1729-21321A>C (n.1729-21321A>C)
c.1648A>C (p.Asn550His)
c.1474A>C (p.Asn492His)
c.1561-21321A>C (n.1561-21321A>C)
c.1558-21321A>C (n.1558-21321A>C)
n.2011A>C
c.1813A>C (p.Asn605His)
c.1693A>C (p.Asn565His)
c.1528A>C (p.Asn510His)
c.1471A>C (p.Asn491His)
c.1426A>C (p.Asn476His)
c.1249A>C (p.Asn417His)
c.1081A>C (p.Asn361His)
c.994-21321A>C (n.994-21321A>C)
18g.49118837T>ACA503936346DYMc.1818A>T (p.Pro606=)
c.1653A>T (p.Pro551=)
c.1083A>T (p.Pro361=)
c.1650A>T (p.Pro550=)
c.1485A>T (p.Pro495=)
c.1564-21322A>T (n.1564-21322A>T)
c.1815A>T (p.Pro605=)
c.1729-21322A>T (n.1729-21322A>T)
c.1647A>T (p.Pro549=)
c.1473A>T (p.Pro491=)
c.1561-21322A>T (n.1561-21322A>T)
c.1558-21322A>T (n.1558-21322A>T)
n.2010A>T
c.1812A>T (p.Pro604=)
c.1692A>T (p.Pro564=)
c.1527A>T (p.Pro509=)
c.1470A>T (p.Pro490=)
c.1425A>T (p.Pro475=)
c.1248A>T (p.Pro416=)
c.1080A>T (p.Pro360=)
c.994-21322A>T (n.994-21322A>T)
18g.49118837T>CCA503936347DYMc.1818A>G (p.Pro606=)
c.1653A>G (p.Pro551=)
c.1083A>G (p.Pro361=)
c.1650A>G (p.Pro550=)
c.1485A>G (p.Pro495=)
c.1564-21322A>G (n.1564-21322A>G)
c.1815A>G (p.Pro605=)
c.1729-21322A>G (n.1729-21322A>G)
c.1647A>G (p.Pro549=)
c.1473A>G (p.Pro491=)
c.1561-21322A>G (n.1561-21322A>G)
c.1558-21322A>G (n.1558-21322A>G)
n.2010A>G
c.1812A>G (p.Pro604=)
c.1692A>G (p.Pro564=)
c.1527A>G (p.Pro509=)
c.1470A>G (p.Pro490=)
c.1425A>G (p.Pro475=)
c.1248A>G (p.Pro416=)
c.1080A>G (p.Pro360=)
c.994-21322A>G (n.994-21322A>G)
18g.49118837T>GCA8958014DYMc.1818A>C (p.Pro606=)
c.1653A>C (p.Pro551=)
c.1083A>C (p.Pro361=)
c.1650A>C (p.Pro550=)
c.1485A>C (p.Pro495=)
c.1564-21322A>C (n.1564-21322A>C)
c.1815A>C (p.Pro605=)
c.1729-21322A>C (n.1729-21322A>C)
c.1647A>C (p.Pro549=)
c.1473A>C (p.Pro491=)
c.1561-21322A>C (n.1561-21322A>C)
c.1558-21322A>C (n.1558-21322A>C)
n.2010A>C
c.1812A>C (p.Pro604=)
c.1692A>C (p.Pro564=)
c.1527A>C (p.Pro509=)
c.1470A>C (p.Pro490=)
c.1425A>C (p.Pro475=)
c.1248A>C (p.Pro416=)
c.1080A>C (p.Pro360=)
c.994-21322A>C (n.994-21322A>C)
 dbSNP ExAC gnomAD v2
18g.49118837T=CA2302066408DYMc.1818A= (p.Pro606=)
c.1653A= (p.Pro551=)
c.1083A= (p.Pro361=)
c.1650A= (p.Pro550=)
c.1485A= (p.Pro495=)
c.1564-21322A= (n.1564-21322A=)
c.1815A= (p.Pro605=)
c.1729-21322A= (n.1729-21322A=)
c.1647A= (p.Pro549=)
c.1473A= (p.Pro491=)
c.1561-21322A= (n.1561-21322A=)
c.1558-21322A= (n.1558-21322A=)
n.2010A=
c.1812A= (p.Pro604=)
c.1692A= (p.Pro564=)
c.1527A= (p.Pro509=)
c.1470A= (p.Pro490=)
c.1425A= (p.Pro475=)
c.1248A= (p.Pro416=)
c.1080A= (p.Pro360=)
c.994-21322A= (n.994-21322A=)
18g.49118838G>ACA402507167DYMc.1817C>T (p.Pro606Leu)
c.1652C>T (p.Pro551Leu)
c.1082C>T (p.Pro361Leu)
c.1649C>T (p.Pro550Leu)
c.1484C>T (p.Pro495Leu)
c.1564-21323C>T (n.1564-21323C>T)
c.1814C>T (p.Pro605Leu)
c.1729-21323C>T (n.1729-21323C>T)
c.1646C>T (p.Pro549Leu)
c.1472C>T (p.Pro491Leu)
c.1561-21323C>T (n.1561-21323C>T)
c.1558-21323C>T (n.1558-21323C>T)
n.2009C>T
c.1811C>T (p.Pro604Leu)
c.1691C>T (p.Pro564Leu)
c.1526C>T (p.Pro509Leu)
c.1469C>T (p.Pro490Leu)
c.1424C>T (p.Pro475Leu)
c.1247C>T (p.Pro416Leu)
c.1079C>T (p.Pro360Leu)
c.994-21323C>T (n.994-21323C>T)
18g.49118838G>CCA402507168DYMc.1817C>G (p.Pro606Arg)
c.1652C>G (p.Pro551Arg)
c.1082C>G (p.Pro361Arg)
c.1649C>G (p.Pro550Arg)
c.1484C>G (p.Pro495Arg)
c.1564-21323C>G (n.1564-21323C>G)
c.1814C>G (p.Pro605Arg)
c.1729-21323C>G (n.1729-21323C>G)
c.1646C>G (p.Pro549Arg)
c.1472C>G (p.Pro491Arg)
c.1561-21323C>G (n.1561-21323C>G)
c.1558-21323C>G (n.1558-21323C>G)
n.2009C>G
c.1811C>G (p.Pro604Arg)
c.1691C>G (p.Pro564Arg)
c.1526C>G (p.Pro509Arg)
c.1469C>G (p.Pro490Arg)
c.1424C>G (p.Pro475Arg)
c.1247C>G (p.Pro416Arg)
c.1079C>G (p.Pro360Arg)
c.994-21323C>G (n.994-21323C>G)
18g.49118838G>TCA402507169DYMc.1817C>A (p.Pro606Gln)
c.1652C>A (p.Pro551Gln)
c.1082C>A (p.Pro361Gln)
c.1649C>A (p.Pro550Gln)
c.1484C>A (p.Pro495Gln)
c.1564-21323C>A (n.1564-21323C>A)
c.1814C>A (p.Pro605Gln)
c.1729-21323C>A (n.1729-21323C>A)
c.1646C>A (p.Pro549Gln)
c.1472C>A (p.Pro491Gln)
c.1561-21323C>A (n.1561-21323C>A)
c.1558-21323C>A (n.1558-21323C>A)
n.2009C>A
c.1811C>A (p.Pro604Gln)
c.1691C>A (p.Pro564Gln)
c.1526C>A (p.Pro509Gln)
c.1469C>A (p.Pro490Gln)
c.1424C>A (p.Pro475Gln)
c.1247C>A (p.Pro416Gln)
c.1079C>A (p.Pro360Gln)
c.994-21323C>A (n.994-21323C>A)
18g.49118839G>ACA402507170DYMc.1816C>T (p.Pro606Ser)
c.1651C>T (p.Pro551Ser)
c.1081C>T (p.Pro361Ser)
c.1648C>T (p.Pro550Ser)
c.1483C>T (p.Pro495Ser)
c.1564-21324C>T (n.1564-21324C>T)
c.1813C>T (p.Pro605Ser)
c.1729-21324C>T (n.1729-21324C>T)
c.1645C>T (p.Pro549Ser)
c.1471C>T (p.Pro491Ser)
c.1561-21324C>T (n.1561-21324C>T)
c.1558-21324C>T (n.1558-21324C>T)
n.2008C>T
c.1810C>T (p.Pro604Ser)
c.1690C>T (p.Pro564Ser)
c.1525C>T (p.Pro509Ser)
c.1468C>T (p.Pro490Ser)
c.1423C>T (p.Pro475Ser)
c.1246C>T (p.Pro416Ser)
c.1078C>T (p.Pro360Ser)
c.994-21324C>T (n.994-21324C>T)
18g.49118839G>CCA402507171DYMc.1816C>G (p.Pro606Ala)
c.1651C>G (p.Pro551Ala)
c.1081C>G (p.Pro361Ala)
c.1648C>G (p.Pro550Ala)
c.1483C>G (p.Pro495Ala)
c.1564-21324C>G (n.1564-21324C>G)
c.1813C>G (p.Pro605Ala)
c.1729-21324C>G (n.1729-21324C>G)
c.1645C>G (p.Pro549Ala)
c.1471C>G (p.Pro491Ala)
c.1561-21324C>G (n.1561-21324C>G)
c.1558-21324C>G (n.1558-21324C>G)
n.2008C>G
c.1810C>G (p.Pro604Ala)
c.1690C>G (p.Pro564Ala)
c.1525C>G (p.Pro509Ala)
c.1468C>G (p.Pro490Ala)
c.1423C>G (p.Pro475Ala)
c.1246C>G (p.Pro416Ala)
c.1078C>G (p.Pro360Ala)
c.994-21324C>G (n.994-21324C>G)
18g.49118839G>TCA402507172DYMc.1816C>A (p.Pro606Thr)
c.1651C>A (p.Pro551Thr)
c.1081C>A (p.Pro361Thr)
c.1648C>A (p.Pro550Thr)
c.1483C>A (p.Pro495Thr)
c.1564-21324C>A (n.1564-21324C>A)
c.1813C>A (p.Pro605Thr)
c.1729-21324C>A (n.1729-21324C>A)
c.1645C>A (p.Pro549Thr)
c.1471C>A (p.Pro491Thr)
c.1561-21324C>A (n.1561-21324C>A)
c.1558-21324C>A (n.1558-21324C>A)
n.2008C>A
c.1810C>A (p.Pro604Thr)
c.1690C>A (p.Pro564Thr)
c.1525C>A (p.Pro509Thr)
c.1468C>A (p.Pro490Thr)
c.1423C>A (p.Pro475Thr)
c.1246C>A (p.Pro416Thr)
c.1078C>A (p.Pro360Thr)
c.994-21324C>A (n.994-21324C>A)
18g.49118840G>ACA503936349DYMc.1815C>T (p.Asn605=)
c.1650C>T (p.Asn550=)
c.1080C>T (p.Asn360=)
c.1647C>T (p.Asn549=)
c.1482C>T (p.Asn494=)
c.1564-21325C>T (n.1564-21325C>T)
c.1812C>T (p.Asn604=)
c.1729-21325C>T (n.1729-21325C>T)
c.1644C>T (p.Asn548=)
c.1470C>T (p.Asn490=)
c.1561-21325C>T (n.1561-21325C>T)
c.1558-21325C>T (n.1558-21325C>T)
n.2007C>T
c.1809C>T (p.Asn603=)
c.1689C>T (p.Asn563=)
c.1524C>T (p.Asn508=)
c.1467C>T (p.Asn489=)
c.1422C>T (p.Asn474=)
c.1245C>T (p.Asn415=)
c.1077C>T (p.Asn359=)
c.994-21325C>T (n.994-21325C>T)
18g.49118840G>CCA402507173DYMc.1815C>G (p.Asn605Lys)
c.1650C>G (p.Asn550Lys)
c.1080C>G (p.Asn360Lys)
c.1647C>G (p.Asn549Lys)
c.1482C>G (p.Asn494Lys)
c.1564-21325C>G (n.1564-21325C>G)
c.1812C>G (p.Asn604Lys)
c.1729-21325C>G (n.1729-21325C>G)
c.1644C>G (p.Asn548Lys)
c.1470C>G (p.Asn490Lys)
c.1561-21325C>G (n.1561-21325C>G)
c.1558-21325C>G (n.1558-21325C>G)
n.2007C>G
c.1809C>G (p.Asn603Lys)
c.1689C>G (p.Asn563Lys)
c.1524C>G (p.Asn508Lys)
c.1467C>G (p.Asn489Lys)
c.1422C>G (p.Asn474Lys)
c.1245C>G (p.Asn415Lys)
c.1077C>G (p.Asn359Lys)
c.994-21325C>G (n.994-21325C>G)
18g.49118840G>TCA402507174DYMc.1815C>A (p.Asn605Lys)
c.1650C>A (p.Asn550Lys)
c.1080C>A (p.Asn360Lys)
c.1647C>A (p.Asn549Lys)
c.1482C>A (p.Asn494Lys)
c.1564-21325C>A (n.1564-21325C>A)
c.1812C>A (p.Asn604Lys)
c.1729-21325C>A (n.1729-21325C>A)
c.1644C>A (p.Asn548Lys)
c.1470C>A (p.Asn490Lys)
c.1561-21325C>A (n.1561-21325C>A)
c.1558-21325C>A (n.1558-21325C>A)
n.2007C>A
c.1809C>A (p.Asn603Lys)
c.1689C>A (p.Asn563Lys)
c.1524C>A (p.Asn508Lys)
c.1467C>A (p.Asn489Lys)
c.1422C>A (p.Asn474Lys)
c.1245C>A (p.Asn415Lys)
c.1077C>A (p.Asn359Lys)
c.994-21325C>A (n.994-21325C>A)
18g.49118841T>ACA402507175DYMc.1814A>T (p.Asn605Ile)
c.1649A>T (p.Asn550Ile)
c.1079A>T (p.Asn360Ile)
c.1646A>T (p.Asn549Ile)
c.1481A>T (p.Asn494Ile)
c.1564-21326A>T (n.1564-21326A>T)
c.1811A>T (p.Asn604Ile)
c.1729-21326A>T (n.1729-21326A>T)
c.1643A>T (p.Asn548Ile)
c.1469A>T (p.Asn490Ile)
c.1561-21326A>T (n.1561-21326A>T)
c.1558-21326A>T (n.1558-21326A>T)
n.2006A>T
c.1808A>T (p.Asn603Ile)
c.1688A>T (p.Asn563Ile)
c.1523A>T (p.Asn508Ile)
c.1466A>T (p.Asn489Ile)
c.1421A>T (p.Asn474Ile)
c.1244A>T (p.Asn415Ile)
c.1076A>T (p.Asn359Ile)
c.994-21326A>T (n.994-21326A>T)
18g.49118841T>CCA402507176DYMc.1814A>G (p.Asn605Ser)
c.1649A>G (p.Asn550Ser)
c.1079A>G (p.Asn360Ser)
c.1646A>G (p.Asn549Ser)
c.1481A>G (p.Asn494Ser)
c.1564-21326A>G (n.1564-21326A>G)
c.1811A>G (p.Asn604Ser)
c.1729-21326A>G (n.1729-21326A>G)
c.1643A>G (p.Asn548Ser)
c.1469A>G (p.Asn490Ser)
c.1561-21326A>G (n.1561-21326A>G)
c.1558-21326A>G (n.1558-21326A>G)
n.2006A>G
c.1808A>G (p.Asn603Ser)
c.1688A>G (p.Asn563Ser)
c.1523A>G (p.Asn508Ser)
c.1466A>G (p.Asn489Ser)
c.1421A>G (p.Asn474Ser)
c.1244A>G (p.Asn415Ser)
c.1076A>G (p.Asn359Ser)
c.994-21326A>G (n.994-21326A>G)
 dbSNP gnomAD v4
18g.49118841T>GCA402507177DYMc.1814A>C (p.Asn605Thr)
c.1649A>C (p.Asn550Thr)
c.1079A>C (p.Asn360Thr)
c.1646A>C (p.Asn549Thr)
c.1481A>C (p.Asn494Thr)
c.1564-21326A>C (n.1564-21326A>C)
c.1811A>C (p.Asn604Thr)
c.1729-21326A>C (n.1729-21326A>C)
c.1643A>C (p.Asn548Thr)
c.1469A>C (p.Asn490Thr)
c.1561-21326A>C (n.1561-21326A>C)
c.1558-21326A>C (n.1558-21326A>C)
n.2006A>C
c.1808A>C (p.Asn603Thr)
c.1688A>C (p.Asn563Thr)
c.1523A>C (p.Asn508Thr)
c.1466A>C (p.Asn489Thr)
c.1421A>C (p.Asn474Thr)
c.1244A>C (p.Asn415Thr)
c.1076A>C (p.Asn359Thr)
c.994-21326A>C (n.994-21326A>C)
18g.49118841T=CA2302066409DYMc.1814A= (p.Asn605=)
c.1649A= (p.Asn550=)
c.1079A= (p.Asn360=)
c.1646A= (p.Asn549=)
c.1481A= (p.Asn494=)
c.1564-21326A= (n.1564-21326A=)
c.1811A= (p.Asn604=)
c.1729-21326A= (n.1729-21326A=)
c.1643A= (p.Asn548=)
c.1469A= (p.Asn490=)
c.1561-21326A= (n.1561-21326A=)
c.1558-21326A= (n.1558-21326A=)
n.2006A=
c.1808A= (p.Asn603=)
c.1688A= (p.Asn563=)
c.1523A= (p.Asn508=)
c.1466A= (p.Asn489=)
c.1421A= (p.Asn474=)
c.1244A= (p.Asn415=)
c.1076A= (p.Asn359=)
c.994-21326A= (n.994-21326A=)
18g.49118842T>ACA402507178DYMc.1813A>T (p.Asn605Tyr)
c.1648A>T (p.Asn550Tyr)
c.1078A>T (p.Asn360Tyr)
c.1645A>T (p.Asn549Tyr)
c.1480A>T (p.Asn494Tyr)
c.1564-21327A>T (n.1564-21327A>T)
c.1810A>T (p.Asn604Tyr)
c.1729-21327A>T (n.1729-21327A>T)
c.1642A>T (p.Asn548Tyr)
c.1468A>T (p.Asn490Tyr)
c.1561-21327A>T (n.1561-21327A>T)
c.1558-21327A>T (n.1558-21327A>T)
n.2005A>T
c.1807A>T (p.Asn603Tyr)
c.1687A>T (p.Asn563Tyr)
c.1522A>T (p.Asn508Tyr)
c.1465A>T (p.Asn489Tyr)
c.1420A>T (p.Asn474Tyr)
c.1243A>T (p.Asn415Tyr)
c.1075A>T (p.Asn359Tyr)
c.994-21327A>T (n.994-21327A>T)
18g.49118842T>CCA402507179DYMc.1813A>G (p.Asn605Asp)
c.1648A>G (p.Asn550Asp)
c.1078A>G (p.Asn360Asp)
c.1645A>G (p.Asn549Asp)
c.1480A>G (p.Asn494Asp)
c.1564-21327A>G (n.1564-21327A>G)
c.1810A>G (p.Asn604Asp)
c.1729-21327A>G (n.1729-21327A>G)
c.1642A>G (p.Asn548Asp)
c.1468A>G (p.Asn490Asp)
c.1561-21327A>G (n.1561-21327A>G)
c.1558-21327A>G (n.1558-21327A>G)
n.2005A>G
c.1807A>G (p.Asn603Asp)
c.1687A>G (p.Asn563Asp)
c.1522A>G (p.Asn508Asp)
c.1465A>G (p.Asn489Asp)
c.1420A>G (p.Asn474Asp)
c.1243A>G (p.Asn415Asp)
c.1075A>G (p.Asn359Asp)
c.994-21327A>G (n.994-21327A>G)
18g.49118842T>GCA402507180DYMc.1813A>C (p.Asn605His)
c.1648A>C (p.Asn550His)
c.1078A>C (p.Asn360His)
c.1645A>C (p.Asn549His)
c.1480A>C (p.Asn494His)
c.1564-21327A>C (n.1564-21327A>C)
c.1810A>C (p.Asn604His)
c.1729-21327A>C (n.1729-21327A>C)
c.1642A>C (p.Asn548His)
c.1468A>C (p.Asn490His)
c.1561-21327A>C (n.1561-21327A>C)
c.1558-21327A>C (n.1558-21327A>C)
n.2005A>C
c.1807A>C (p.Asn603His)
c.1687A>C (p.Asn563His)
c.1522A>C (p.Asn508His)
c.1465A>C (p.Asn489His)
c.1420A>C (p.Asn474His)
c.1243A>C (p.Asn415His)
c.1075A>C (p.Asn359His)
c.994-21327A>C (n.994-21327A>C)
18g.49118843G>ACA503936351DYMc.1812C>T (p.His604=)
c.1647C>T (p.His549=)
c.1077C>T (p.His359=)
c.1644C>T (p.His548=)
c.1479C>T (p.His493=)
c.1564-21328C>T (n.1564-21328C>T)
c.1809C>T (p.His603=)
c.1729-21328C>T (n.1729-21328C>T)
c.1641C>T (p.His547=)
c.1467C>T (p.His489=)
c.1561-21328C>T (n.1561-21328C>T)
c.1558-21328C>T (n.1558-21328C>T)
n.2004C>T
c.1806C>T (p.His602=)
c.1686C>T (p.His562=)
c.1521C>T (p.His507=)
c.1464C>T (p.His488=)
c.1419C>T (p.His473=)
c.1242C>T (p.His414=)
c.1074C>T (p.His358=)
c.994-21328C>T (n.994-21328C>T)
 dbSNP gnomAD v2
18g.49118843G>CCA402507181DYMc.1812C>G (p.His604Gln)
c.1647C>G (p.His549Gln)
c.1077C>G (p.His359Gln)
c.1644C>G (p.His548Gln)
c.1479C>G (p.His493Gln)
c.1564-21328C>G (n.1564-21328C>G)
c.1809C>G (p.His603Gln)
c.1729-21328C>G (n.1729-21328C>G)
c.1641C>G (p.His547Gln)
c.1467C>G (p.His489Gln)
c.1561-21328C>G (n.1561-21328C>G)
c.1558-21328C>G (n.1558-21328C>G)
n.2004C>G
c.1806C>G (p.His602Gln)
c.1686C>G (p.His562Gln)
c.1521C>G (p.His507Gln)
c.1464C>G (p.His488Gln)
c.1419C>G (p.His473Gln)
c.1242C>G (p.His414Gln)
c.1074C>G (p.His358Gln)
c.994-21328C>G (n.994-21328C>G)
18g.49118843G=CA2302066410DYMc.1812C= (p.His604=)
c.1647C= (p.His549=)
c.1077C= (p.His359=)
c.1644C= (p.His548=)
c.1479C= (p.His493=)
c.1564-21328C= (n.1564-21328C=)
c.1809C= (p.His603=)
c.1729-21328C= (n.1729-21328C=)
c.1641C= (p.His547=)
c.1467C= (p.His489=)
c.1561-21328C= (n.1561-21328C=)
c.1558-21328C= (n.1558-21328C=)
n.2004C=
c.1806C= (p.His602=)
c.1686C= (p.His562=)
c.1521C= (p.His507=)
c.1464C= (p.His488=)
c.1419C= (p.His473=)
c.1242C= (p.His414=)
c.1074C= (p.His358=)
c.994-21328C= (n.994-21328C=)
18g.49118843G>TCA402507182DYMc.1812C>A (p.His604Gln)
c.1647C>A (p.His549Gln)
c.1077C>A (p.His359Gln)
c.1644C>A (p.His548Gln)
c.1479C>A (p.His493Gln)
c.1564-21328C>A (n.1564-21328C>A)
c.1809C>A (p.His603Gln)
c.1729-21328C>A (n.1729-21328C>A)
c.1641C>A (p.His547Gln)
c.1467C>A (p.His489Gln)
c.1561-21328C>A (n.1561-21328C>A)
c.1558-21328C>A (n.1558-21328C>A)
n.2004C>A
c.1806C>A (p.His602Gln)
c.1686C>A (p.His562Gln)
c.1521C>A (p.His507Gln)
c.1464C>A (p.His488Gln)
c.1419C>A (p.His473Gln)
c.1242C>A (p.His414Gln)
c.1074C>A (p.His358Gln)
c.994-21328C>A (n.994-21328C>A)
18g.49118844T>ACA402507183DYMc.1811A>T (p.His604Leu)
c.1646A>T (p.His549Leu)
c.1076A>T (p.His359Leu)
c.1643A>T (p.His548Leu)
c.1478A>T (p.His493Leu)
c.1564-21329A>T (n.1564-21329A>T)
c.1808A>T (p.His603Leu)
c.1729-21329A>T (n.1729-21329A>T)
c.1640A>T (p.His547Leu)
c.1466A>T (p.His489Leu)
c.1561-21329A>T (n.1561-21329A>T)
c.1558-21329A>T (n.1558-21329A>T)
n.2003A>T
c.1805A>T (p.His602Leu)
c.1685A>T (p.His562Leu)
c.1520A>T (p.His507Leu)
c.1463A>T (p.His488Leu)
c.1418A>T (p.His473Leu)
c.1241A>T (p.His414Leu)
c.1073A>T (p.His358Leu)
c.994-21329A>T (n.994-21329A>T)
18g.49118844T>CCA402507184DYMc.1811A>G (p.His604Arg)
c.1646A>G (p.His549Arg)
c.1076A>G (p.His359Arg)
c.1643A>G (p.His548Arg)
c.1478A>G (p.His493Arg)
c.1564-21329A>G (n.1564-21329A>G)
c.1808A>G (p.His603Arg)
c.1729-21329A>G (n.1729-21329A>G)
c.1640A>G (p.His547Arg)
c.1466A>G (p.His489Arg)
c.1561-21329A>G (n.1561-21329A>G)
c.1558-21329A>G (n.1558-21329A>G)
n.2003A>G
c.1805A>G (p.His602Arg)
c.1685A>G (p.His562Arg)
c.1520A>G (p.His507Arg)
c.1463A>G (p.His488Arg)
c.1418A>G (p.His473Arg)
c.1241A>G (p.His414Arg)
c.1073A>G (p.His358Arg)
c.994-21329A>G (n.994-21329A>G)
18g.49118844T>GCA402507185DYMc.1811A>C (p.His604Pro)
c.1646A>C (p.His549Pro)
c.1076A>C (p.His359Pro)
c.1643A>C (p.His548Pro)
c.1478A>C (p.His493Pro)
c.1564-21329A>C (n.1564-21329A>C)
c.1808A>C (p.His603Pro)
c.1729-21329A>C (n.1729-21329A>C)
c.1640A>C (p.His547Pro)
c.1466A>C (p.His489Pro)
c.1561-21329A>C (n.1561-21329A>C)
c.1558-21329A>C (n.1558-21329A>C)
n.2003A>C
c.1805A>C (p.His602Pro)
c.1685A>C (p.His562Pro)
c.1520A>C (p.His507Pro)
c.1463A>C (p.His488Pro)
c.1418A>C (p.His473Pro)
c.1241A>C (p.His414Pro)
c.1073A>C (p.His358Pro)
c.994-21329A>C (n.994-21329A>C)
 dbSNP
18g.49118844T=CA2302066411DYMc.1811A= (p.His604=)
c.1646A= (p.His549=)
c.1076A= (p.His359=)
c.1643A= (p.His548=)
c.1478A= (p.His493=)
c.1564-21329A= (n.1564-21329A=)
c.1808A= (p.His603=)
c.1729-21329A= (n.1729-21329A=)
c.1640A= (p.His547=)
c.1466A= (p.His489=)
c.1561-21329A= (n.1561-21329A=)
c.1558-21329A= (n.1558-21329A=)
n.2003A=
c.1805A= (p.His602=)
c.1685A= (p.His562=)
c.1520A= (p.His507=)
c.1463A= (p.His488=)
c.1418A= (p.His473=)
c.1241A= (p.His414=)
c.1073A= (p.His358=)
c.994-21329A= (n.994-21329A=)
18g.49118845G>ACA402507186DYMc.1810C>T (p.His604Tyr)
c.1645C>T (p.His549Tyr)
c.1075C>T (p.His359Tyr)
c.1642C>T (p.His548Tyr)
c.1477C>T (p.His493Tyr)
c.1564-21330C>T (n.1564-21330C>T)
c.1807C>T (p.His603Tyr)
c.1729-21330C>T (n.1729-21330C>T)
c.1639C>T (p.His547Tyr)
c.1465C>T (p.His489Tyr)
c.1561-21330C>T (n.1561-21330C>T)
c.1558-21330C>T (n.1558-21330C>T)
n.2002C>T
c.1804C>T (p.His602Tyr)
c.1684C>T (p.His562Tyr)
c.1519C>T (p.His507Tyr)
c.1462C>T (p.His488Tyr)
c.1417C>T (p.His473Tyr)
c.1240C>T (p.His414Tyr)
c.1072C>T (p.His358Tyr)
c.994-21330C>T (n.994-21330C>T)
18g.49118845G>CCA402507187DYMc.1810C>G (p.His604Asp)
c.1645C>G (p.His549Asp)
c.1075C>G (p.His359Asp)
c.1642C>G (p.His548Asp)
c.1477C>G (p.His493Asp)
c.1564-21330C>G (n.1564-21330C>G)
c.1807C>G (p.His603Asp)
c.1729-21330C>G (n.1729-21330C>G)
c.1639C>G (p.His547Asp)
c.1465C>G (p.His489Asp)
c.1561-21330C>G (n.1561-21330C>G)
c.1558-21330C>G (n.1558-21330C>G)
n.2002C>G
c.1804C>G (p.His602Asp)
c.1684C>G (p.His562Asp)
c.1519C>G (p.His507Asp)
c.1462C>G (p.His488Asp)
c.1417C>G (p.His473Asp)
c.1240C>G (p.His414Asp)
c.1072C>G (p.His358Asp)
c.994-21330C>G (n.994-21330C>G)
 dbSNP gnomAD v2 gnomAD v4
18g.49118845G=CA2302066412DYMc.1810C= (p.His604=)
c.1645C= (p.His549=)
c.1075C= (p.His359=)
c.1642C= (p.His548=)
c.1477C= (p.His493=)
c.1564-21330C= (n.1564-21330C=)
c.1807C= (p.His603=)
c.1729-21330C= (n.1729-21330C=)
c.1639C= (p.His547=)
c.1465C= (p.His489=)
c.1561-21330C= (n.1561-21330C=)
c.1558-21330C= (n.1558-21330C=)
n.2002C=
c.1804C= (p.His602=)
c.1684C= (p.His562=)
c.1519C= (p.His507=)
c.1462C= (p.His488=)
c.1417C= (p.His473=)
c.1240C= (p.His414=)
c.1072C= (p.His358=)
c.994-21330C= (n.994-21330C=)
18g.49118845G>TCA402507188DYMc.1810C>A (p.His604Asn)
c.1645C>A (p.His549Asn)
c.1075C>A (p.His359Asn)
c.1642C>A (p.His548Asn)
c.1477C>A (p.His493Asn)
c.1564-21330C>A (n.1564-21330C>A)
c.1807C>A (p.His603Asn)
c.1729-21330C>A (n.1729-21330C>A)
c.1639C>A (p.His547Asn)
c.1465C>A (p.His489Asn)
c.1561-21330C>A (n.1561-21330C>A)
c.1558-21330C>A (n.1558-21330C>A)
n.2002C>A
c.1804C>A (p.His602Asn)
c.1684C>A (p.His562Asn)
c.1519C>A (p.His507Asn)
c.1462C>A (p.His488Asn)
c.1417C>A (p.His473Asn)
c.1240C>A (p.His414Asn)
c.1072C>A (p.His358Asn)
c.994-21330C>A (n.994-21330C>A)
 dbSNP gnomAD v4
18g.49118846G>ACA8958016DYMc.1809C>T (p.His603=)
c.1644C>T (p.His548=)
c.1074C>T (p.His358=)
c.1641C>T (p.His547=)
c.1476C>T (p.His492=)
c.1564-21331C>T (n.1564-21331C>T)
c.1806C>T (p.His602=)
c.1729-21331C>T (n.1729-21331C>T)
c.1638C>T (p.His546=)
c.1464C>T (p.His488=)
c.1561-21331C>T (n.1561-21331C>T)
c.1558-21331C>T (n.1558-21331C>T)
n.2001C>T
c.1803C>T (p.His601=)
c.1683C>T (p.His561=)
c.1518C>T (p.His506=)
c.1461C>T (p.His487=)
c.1416C>T (p.His472=)
c.1239C>T (p.His413=)
c.1071C>T (p.His357=)
c.994-21331C>T (n.994-21331C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.49118846G>CCA8958015DYMc.1809C>G (p.His603Gln)
c.1644C>G (p.His548Gln)
c.1074C>G (p.His358Gln)
c.1641C>G (p.His547Gln)
c.1476C>G (p.His492Gln)
c.1564-21331C>G (n.1564-21331C>G)
c.1806C>G (p.His602Gln)
c.1729-21331C>G (n.1729-21331C>G)
c.1638C>G (p.His546Gln)
c.1464C>G (p.His488Gln)
c.1561-21331C>G (n.1561-21331C>G)
c.1558-21331C>G (n.1558-21331C>G)
n.2001C>G
c.1803C>G (p.His601Gln)
c.1683C>G (p.His561Gln)
c.1518C>G (p.His506Gln)
c.1461C>G (p.His487Gln)
c.1416C>G (p.His472Gln)
c.1239C>G (p.His413Gln)
c.1071C>G (p.His357Gln)
c.994-21331C>G (n.994-21331C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.49118846G=CA2302066413DYMc.1809C= (p.His603=)
c.1644C= (p.His548=)
c.1074C= (p.His358=)
c.1641C= (p.His547=)
c.1476C= (p.His492=)
c.1564-21331C= (n.1564-21331C=)
c.1806C= (p.His602=)
c.1729-21331C= (n.1729-21331C=)
c.1638C= (p.His546=)
c.1464C= (p.His488=)
c.1561-21331C= (n.1561-21331C=)
c.1558-21331C= (n.1558-21331C=)
n.2001C=
c.1803C= (p.His601=)
c.1683C= (p.His561=)
c.1518C= (p.His506=)
c.1461C= (p.His487=)
c.1416C= (p.His472=)
c.1239C= (p.His413=)
c.1071C= (p.His357=)
c.994-21331C= (n.994-21331C=)
18g.49118846G>TCA402507189DYMc.1809C>A (p.His603Gln)
c.1644C>A (p.His548Gln)
c.1074C>A (p.His358Gln)
c.1641C>A (p.His547Gln)
c.1476C>A (p.His492Gln)
c.1564-21331C>A (n.1564-21331C>A)
c.1806C>A (p.His602Gln)
c.1729-21331C>A (n.1729-21331C>A)
c.1638C>A (p.His546Gln)
c.1464C>A (p.His488Gln)
c.1561-21331C>A (n.1561-21331C>A)
c.1558-21331C>A (n.1558-21331C>A)
n.2001C>A
c.1803C>A (p.His601Gln)
c.1683C>A (p.His561Gln)
c.1518C>A (p.His506Gln)
c.1461C>A (p.His487Gln)
c.1416C>A (p.His472Gln)
c.1239C>A (p.His413Gln)
c.1071C>A (p.His357Gln)
c.994-21331C>A (n.994-21331C>A)
18g.49118847T>ACA402507190DYMc.1808A>T (p.His603Leu)
c.1643A>T (p.His548Leu)
c.1073A>T (p.His358Leu)
c.1640A>T (p.His547Leu)
c.1475A>T (p.His492Leu)
c.1564-21332A>T (n.1564-21332A>T)
c.1805A>T (p.His602Leu)
c.1729-21332A>T (n.1729-21332A>T)
c.1637A>T (p.His546Leu)
c.1463A>T (p.His488Leu)
c.1561-21332A>T (n.1561-21332A>T)
c.1558-21332A>T (n.1558-21332A>T)
n.2000A>T
c.1802A>T (p.His601Leu)
c.1682A>T (p.His561Leu)
c.1517A>T (p.His506Leu)
c.1460A>T (p.His487Leu)
c.1415A>T (p.His472Leu)
c.1238A>T (p.His413Leu)
c.1070A>T (p.His357Leu)
c.994-21332A>T (n.994-21332A>T)
18g.49118847T>CCA402507191DYMc.1808A>G (p.His603Arg)
c.1643A>G (p.His548Arg)
c.1073A>G (p.His358Arg)
c.1640A>G (p.His547Arg)
c.1475A>G (p.His492Arg)
c.1564-21332A>G (n.1564-21332A>G)
c.1805A>G (p.His602Arg)
c.1729-21332A>G (n.1729-21332A>G)
c.1637A>G (p.His546Arg)
c.1463A>G (p.His488Arg)
c.1561-21332A>G (n.1561-21332A>G)
c.1558-21332A>G (n.1558-21332A>G)
n.2000A>G
c.1802A>G (p.His601Arg)
c.1682A>G (p.His561Arg)
c.1517A>G (p.His506Arg)
c.1460A>G (p.His487Arg)
c.1415A>G (p.His472Arg)
c.1238A>G (p.His413Arg)
c.1070A>G (p.His357Arg)
c.994-21332A>G (n.994-21332A>G)
18g.49118847T>GCA402507192DYMc.1808A>C (p.His603Pro)
c.1643A>C (p.His548Pro)
c.1073A>C (p.His358Pro)
c.1640A>C (p.His547Pro)
c.1475A>C (p.His492Pro)
c.1564-21332A>C (n.1564-21332A>C)
c.1805A>C (p.His602Pro)
c.1729-21332A>C (n.1729-21332A>C)
c.1637A>C (p.His546Pro)
c.1463A>C (p.His488Pro)
c.1561-21332A>C (n.1561-21332A>C)
c.1558-21332A>C (n.1558-21332A>C)
n.2000A>C
c.1802A>C (p.His601Pro)
c.1682A>C (p.His561Pro)
c.1517A>C (p.His506Pro)
c.1460A>C (p.His487Pro)
c.1415A>C (p.His472Pro)
c.1238A>C (p.His413Pro)
c.1070A>C (p.His357Pro)
c.994-21332A>C (n.994-21332A>C)
18g.49118848G>ACA402507193DYMc.1807C>T (p.His603Tyr)
c.1642C>T (p.His548Tyr)
c.1072C>T (p.His358Tyr)
c.1639C>T (p.His547Tyr)
c.1474C>T (p.His492Tyr)
c.1564-21333C>T (n.1564-21333C>T)
c.1804C>T (p.His602Tyr)
c.1729-21333C>T (n.1729-21333C>T)
c.1636C>T (p.His546Tyr)
c.1462C>T (p.His488Tyr)
c.1561-21333C>T (n.1561-21333C>T)
c.1558-21333C>T (n.1558-21333C>T)
n.1999C>T
c.1801C>T (p.His601Tyr)
c.1681C>T (p.His561Tyr)
c.1516C>T (p.His506Tyr)
c.1459C>T (p.His487Tyr)
c.1414C>T (p.His472Tyr)
c.1237C>T (p.His413Tyr)
c.1069C>T (p.His357Tyr)
c.994-21333C>T (n.994-21333C>T)
18g.49118848G>CCA402507195DYMc.1807C>G (p.His603Asp)
c.1642C>G (p.His548Asp)
c.1072C>G (p.His358Asp)
c.1639C>G (p.His547Asp)
c.1474C>G (p.His492Asp)
c.1564-21333C>G (n.1564-21333C>G)
c.1804C>G (p.His602Asp)
c.1729-21333C>G (n.1729-21333C>G)
c.1636C>G (p.His546Asp)
c.1462C>G (p.His488Asp)
c.1561-21333C>G (n.1561-21333C>G)
c.1558-21333C>G (n.1558-21333C>G)
n.1999C>G
c.1801C>G (p.His601Asp)
c.1681C>G (p.His561Asp)
c.1516C>G (p.His506Asp)
c.1459C>G (p.His487Asp)
c.1414C>G (p.His472Asp)
c.1237C>G (p.His413Asp)
c.1069C>G (p.His357Asp)
c.994-21333C>G (n.994-21333C>G)
18g.49118848G>TCA402507194DYMc.1807C>A (p.His603Asn)
c.1642C>A (p.His548Asn)
c.1072C>A (p.His358Asn)
c.1639C>A (p.His547Asn)
c.1474C>A (p.His492Asn)
c.1564-21333C>A (n.1564-21333C>A)
c.1804C>A (p.His602Asn)
c.1729-21333C>A (n.1729-21333C>A)
c.1636C>A (p.His546Asn)
c.1462C>A (p.His488Asn)
c.1561-21333C>A (n.1561-21333C>A)
c.1558-21333C>A (n.1558-21333C>A)
n.1999C>A
c.1801C>A (p.His601Asn)
c.1681C>A (p.His561Asn)
c.1516C>A (p.His506Asn)
c.1459C>A (p.His487Asn)
c.1414C>A (p.His472Asn)
c.1237C>A (p.His413Asn)
c.1069C>A (p.His357Asn)
c.994-21333C>A (n.994-21333C>A)
18g.49118849A>CCA503936354DYMc.1806T>G (p.Leu602=)
c.1641T>G (p.Leu547=)
c.1071T>G (p.Leu357=)
c.1638T>G (p.Leu546=)
c.1473T>G (p.Leu491=)
c.1564-21334T>G (n.1564-21334T>G)
c.1803T>G (p.Leu601=)
c.1729-21334T>G (n.1729-21334T>G)
c.1635T>G (p.Leu545=)
c.1461T>G (p.Leu487=)
c.1561-21334T>G (n.1561-21334T>G)
c.1558-21334T>G (n.1558-21334T>G)
n.1998T>G
c.1800T>G (p.Leu600=)
c.1680T>G (p.Leu560=)
c.1515T>G (p.Leu505=)
c.1458T>G (p.Leu486=)
c.1413T>G (p.Leu471=)
c.1236T>G (p.Leu412=)
c.1068T>G (p.Leu356=)
c.994-21334T>G (n.994-21334T>G)
18g.49118849A>GCA503936352DYMc.1806T>C (p.Leu602=)
c.1641T>C (p.Leu547=)
c.1071T>C (p.Leu357=)
c.1638T>C (p.Leu546=)
c.1473T>C (p.Leu491=)
c.1564-21334T>C (n.1564-21334T>C)
c.1803T>C (p.Leu601=)
c.1729-21334T>C (n.1729-21334T>C)
c.1635T>C (p.Leu545=)
c.1461T>C (p.Leu487=)
c.1561-21334T>C (n.1561-21334T>C)
c.1558-21334T>C (n.1558-21334T>C)
n.1998T>C
c.1800T>C (p.Leu600=)
c.1680T>C (p.Leu560=)
c.1515T>C (p.Leu505=)
c.1458T>C (p.Leu486=)
c.1413T>C (p.Leu471=)
c.1236T>C (p.Leu412=)
c.1068T>C (p.Leu356=)
c.994-21334T>C (n.994-21334T>C)
18g.49118849A>TCA503936353DYMc.1806T>A (p.Leu602=)
c.1641T>A (p.Leu547=)
c.1071T>A (p.Leu357=)
c.1638T>A (p.Leu546=)
c.1473T>A (p.Leu491=)
c.1564-21334T>A (n.1564-21334T>A)
c.1803T>A (p.Leu601=)
c.1729-21334T>A (n.1729-21334T>A)
c.1635T>A (p.Leu545=)
c.1461T>A (p.Leu487=)
c.1561-21334T>A (n.1561-21334T>A)
c.1558-21334T>A (n.1558-21334T>A)
n.1998T>A
c.1800T>A (p.Leu600=)
c.1680T>A (p.Leu560=)
c.1515T>A (p.Leu505=)
c.1458T>A (p.Leu486=)
c.1413T>A (p.Leu471=)
c.1236T>A (p.Leu412=)
c.1068T>A (p.Leu356=)
c.994-21334T>A (n.994-21334T>A)
18g.49118850A>CCA402507196DYMc.1805T>G (p.Leu602Arg)
c.1640T>G (p.Leu547Arg)
c.1070T>G (p.Leu357Arg)
c.1637T>G (p.Leu546Arg)
c.1472T>G (p.Leu491Arg)
c.1564-21335T>G (n.1564-21335T>G)
c.1802T>G (p.Leu601Arg)
c.1729-21335T>G (n.1729-21335T>G)
c.1634T>G (p.Leu545Arg)
c.1460T>G (p.Leu487Arg)
c.1561-21335T>G (n.1561-21335T>G)
c.1558-21335T>G (n.1558-21335T>G)
n.1997T>G
c.1799T>G (p.Leu600Arg)
c.1679T>G (p.Leu560Arg)
c.1514T>G (p.Leu505Arg)
c.1457T>G (p.Leu486Arg)
c.1412T>G (p.Leu471Arg)
c.1235T>G (p.Leu412Arg)
c.1067T>G (p.Leu356Arg)
c.994-21335T>G (n.994-21335T>G)
18g.49118850A>GCA402507197DYMc.1805T>C (p.Leu602Pro)
c.1640T>C (p.Leu547Pro)
c.1070T>C (p.Leu357Pro)
c.1637T>C (p.Leu546Pro)
c.1472T>C (p.Leu491Pro)
c.1564-21335T>C (n.1564-21335T>C)
c.1802T>C (p.Leu601Pro)
c.1729-21335T>C (n.1729-21335T>C)
c.1634T>C (p.Leu545Pro)
c.1460T>C (p.Leu487Pro)
c.1561-21335T>C (n.1561-21335T>C)
c.1558-21335T>C (n.1558-21335T>C)
n.1997T>C
c.1799T>C (p.Leu600Pro)
c.1679T>C (p.Leu560Pro)
c.1514T>C (p.Leu505Pro)
c.1457T>C (p.Leu486Pro)
c.1412T>C (p.Leu471Pro)
c.1235T>C (p.Leu412Pro)
c.1067T>C (p.Leu356Pro)
c.994-21335T>C (n.994-21335T>C)
18g.49118850A>TCA402507198DYMc.1805T>A (p.Leu602His)
c.1640T>A (p.Leu547His)
c.1070T>A (p.Leu357His)
c.1637T>A (p.Leu546His)
c.1472T>A (p.Leu491His)
c.1564-21335T>A (n.1564-21335T>A)
c.1802T>A (p.Leu601His)
c.1729-21335T>A (n.1729-21335T>A)
c.1634T>A (p.Leu545His)
c.1460T>A (p.Leu487His)
c.1561-21335T>A (n.1561-21335T>A)
c.1558-21335T>A (n.1558-21335T>A)
n.1997T>A
c.1799T>A (p.Leu600His)
c.1679T>A (p.Leu560His)
c.1514T>A (p.Leu505His)
c.1457T>A (p.Leu486His)
c.1412T>A (p.Leu471His)
c.1235T>A (p.Leu412His)
c.1067T>A (p.Leu356His)
c.994-21335T>A (n.994-21335T>A)
18g.49118851G>ACA402507199DYMc.1804C>T (p.Leu602Phe)
c.1639C>T (p.Leu547Phe)
c.1069C>T (p.Leu357Phe)
c.1636C>T (p.Leu546Phe)
c.1471C>T (p.Leu491Phe)
c.1564-21336C>T (n.1564-21336C>T)
c.1801C>T (p.Leu601Phe)
c.1729-21336C>T (n.1729-21336C>T)
c.1633C>T (p.Leu545Phe)
c.1459C>T (p.Leu487Phe)
c.1561-21336C>T (n.1561-21336C>T)
c.1558-21336C>T (n.1558-21336C>T)
n.1996C>T
c.1798C>T (p.Leu600Phe)
c.1678C>T (p.Leu560Phe)
c.1513C>T (p.Leu505Phe)
c.1456C>T (p.Leu486Phe)
c.1411C>T (p.Leu471Phe)
c.1234C>T (p.Leu412Phe)
c.1066C>T (p.Leu356Phe)
c.994-21336C>T (n.994-21336C>T)
18g.49118851G>CCA8958017DYMc.1804C>G (p.Leu602Val)
c.1639C>G (p.Leu547Val)
c.1069C>G (p.Leu357Val)
c.1636C>G (p.Leu546Val)
c.1471C>G (p.Leu491Val)
c.1564-21336C>G (n.1564-21336C>G)
c.1801C>G (p.Leu601Val)
c.1729-21336C>G (n.1729-21336C>G)
c.1633C>G (p.Leu545Val)
c.1459C>G (p.Leu487Val)
c.1561-21336C>G (n.1561-21336C>G)
c.1558-21336C>G (n.1558-21336C>G)
n.1996C>G
c.1798C>G (p.Leu600Val)
c.1678C>G (p.Leu560Val)
c.1513C>G (p.Leu505Val)
c.1456C>G (p.Leu486Val)
c.1411C>G (p.Leu471Val)
c.1234C>G (p.Leu412Val)
c.1066C>G (p.Leu356Val)
c.994-21336C>G (n.994-21336C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.49118851G=CA2302066414DYMc.1804C= (p.Leu602=)
c.1639C= (p.Leu547=)
c.1069C= (p.Leu357=)
c.1636C= (p.Leu546=)
c.1471C= (p.Leu491=)
c.1564-21336C= (n.1564-21336C=)
c.1801C= (p.Leu601=)
c.1729-21336C= (n.1729-21336C=)
c.1633C= (p.Leu545=)
c.1459C= (p.Leu487=)
c.1561-21336C= (n.1561-21336C=)
c.1558-21336C= (n.1558-21336C=)
n.1996C=
c.1798C= (p.Leu600=)
c.1678C= (p.Leu560=)
c.1513C= (p.Leu505=)
c.1456C= (p.Leu486=)
c.1411C= (p.Leu471=)
c.1234C= (p.Leu412=)
c.1066C= (p.Leu356=)
c.994-21336C= (n.994-21336C=)
18g.49118851G>TCA402507200DYMc.1804C>A (p.Leu602Ile)
c.1639C>A (p.Leu547Ile)
c.1069C>A (p.Leu357Ile)
c.1636C>A (p.Leu546Ile)
c.1471C>A (p.Leu491Ile)
c.1564-21336C>A (n.1564-21336C>A)
c.1801C>A (p.Leu601Ile)
c.1729-21336C>A (n.1729-21336C>A)
c.1633C>A (p.Leu545Ile)
c.1459C>A (p.Leu487Ile)
c.1561-21336C>A (n.1561-21336C>A)
c.1558-21336C>A (n.1558-21336C>A)
n.1996C>A
c.1798C>A (p.Leu600Ile)
c.1678C>A (p.Leu560Ile)
c.1513C>A (p.Leu505Ile)
c.1456C>A (p.Leu486Ile)
c.1411C>A (p.Leu471Ile)
c.1234C>A (p.Leu412Ile)
c.1066C>A (p.Leu356Ile)
c.994-21336C>A (n.994-21336C>A)
18g.49118852G>ACA503936355DYMc.1803C>T (p.Ser601=)
c.1638C>T (p.Ser546=)
c.1068C>T (p.Ser356=)
c.1635C>T (p.Ser545=)
c.1470C>T (p.Ser490=)
c.1564-21337C>T (n.1564-21337C>T)
c.1800C>T (p.Ser600=)
c.1729-21337C>T (n.1729-21337C>T)
c.1632C>T (p.Ser544=)
c.1458C>T (p.Ser486=)
c.1561-21337C>T (n.1561-21337C>T)
c.1558-21337C>T (n.1558-21337C>T)
n.1995C>T
c.1797C>T (p.Ser599=)
c.1677C>T (p.Ser559=)
c.1512C>T (p.Ser504=)
c.1455C>T (p.Ser485=)
c.1410C>T (p.Ser470=)
c.1233C>T (p.Ser411=)
c.1065C>T (p.Ser355=)
c.994-21337C>T (n.994-21337C>T)
18g.49118852G>CCA503936356DYMc.1803C>G (p.Ser601=)
c.1638C>G (p.Ser546=)
c.1068C>G (p.Ser356=)
c.1635C>G (p.Ser545=)
c.1470C>G (p.Ser490=)
c.1564-21337C>G (n.1564-21337C>G)
c.1800C>G (p.Ser600=)
c.1729-21337C>G (n.1729-21337C>G)
c.1632C>G (p.Ser544=)
c.1458C>G (p.Ser486=)
c.1561-21337C>G (n.1561-21337C>G)
c.1558-21337C>G (n.1558-21337C>G)
n.1995C>G
c.1797C>G (p.Ser599=)
c.1677C>G (p.Ser559=)
c.1512C>G (p.Ser504=)
c.1455C>G (p.Ser485=)
c.1410C>G (p.Ser470=)
c.1233C>G (p.Ser411=)
c.1065C>G (p.Ser355=)
c.994-21337C>G (n.994-21337C>G)
18g.49118852G>TCA503936357DYMc.1803C>A (p.Ser601=)
c.1638C>A (p.Ser546=)
c.1068C>A (p.Ser356=)
c.1635C>A (p.Ser545=)
c.1470C>A (p.Ser490=)
c.1564-21337C>A (n.1564-21337C>A)
c.1800C>A (p.Ser600=)
c.1729-21337C>A (n.1729-21337C>A)
c.1632C>A (p.Ser544=)
c.1458C>A (p.Ser486=)
c.1561-21337C>A (n.1561-21337C>A)
c.1558-21337C>A (n.1558-21337C>A)
n.1995C>A
c.1797C>A (p.Ser599=)
c.1677C>A (p.Ser559=)
c.1512C>A (p.Ser504=)
c.1455C>A (p.Ser485=)
c.1410C>A (p.Ser470=)
c.1233C>A (p.Ser411=)
c.1065C>A (p.Ser355=)
c.994-21337C>A (n.994-21337C>A)
18g.49118853G>ACA402507201DYMc.1802C>T (p.Ser601Phe)
c.1637C>T (p.Ser546Phe)
c.1067C>T (p.Ser356Phe)
c.1634C>T (p.Ser545Phe)
c.1469C>T (p.Ser490Phe)
c.1564-21338C>T (n.1564-21338C>T)
c.1799C>T (p.Ser600Phe)
c.1729-21338C>T (n.1729-21338C>T)
c.1631C>T (p.Ser544Phe)
c.1457C>T (p.Ser486Phe)
c.1561-21338C>T (n.1561-21338C>T)
c.1558-21338C>T (n.1558-21338C>T)
n.1994C>T
c.1796C>T (p.Ser599Phe)
c.1676C>T (p.Ser559Phe)
c.1511C>T (p.Ser504Phe)
c.1454C>T (p.Ser485Phe)
c.1409C>T (p.Ser470Phe)
c.1232C>T (p.Ser411Phe)
c.1064C>T (p.Ser355Phe)
c.994-21338C>T (n.994-21338C>T)
 gnomAD v4
18g.49118853G>CCA402507202DYMc.1802C>G (p.Ser601Cys)
c.1637C>G (p.Ser546Cys)
c.1067C>G (p.Ser356Cys)
c.1634C>G (p.Ser545Cys)
c.1469C>G (p.Ser490Cys)
c.1564-21338C>G (n.1564-21338C>G)
c.1799C>G (p.Ser600Cys)
c.1729-21338C>G (n.1729-21338C>G)
c.1631C>G (p.Ser544Cys)
c.1457C>G (p.Ser486Cys)
c.1561-21338C>G (n.1561-21338C>G)
c.1558-21338C>G (n.1558-21338C>G)
n.1994C>G
c.1796C>G (p.Ser599Cys)
c.1676C>G (p.Ser559Cys)
c.1511C>G (p.Ser504Cys)
c.1454C>G (p.Ser485Cys)
c.1409C>G (p.Ser470Cys)
c.1232C>G (p.Ser411Cys)
c.1064C>G (p.Ser355Cys)
c.994-21338C>G (n.994-21338C>G)
18g.49118853G=CA2302066415DYMc.1802C= (p.Ser601=)
c.1637C= (p.Ser546=)
c.1067C= (p.Ser356=)
c.1634C= (p.Ser545=)
c.1469C= (p.Ser490=)
c.1564-21338C= (n.1564-21338C=)
c.1799C= (p.Ser600=)
c.1729-21338C= (n.1729-21338C=)
c.1631C= (p.Ser544=)
c.1457C= (p.Ser486=)
c.1561-21338C= (n.1561-21338C=)
c.1558-21338C= (n.1558-21338C=)
n.1994C=
c.1796C= (p.Ser599=)
c.1676C= (p.Ser559=)
c.1511C= (p.Ser504=)
c.1454C= (p.Ser485=)
c.1409C= (p.Ser470=)
c.1232C= (p.Ser411=)
c.1064C= (p.Ser355=)
c.994-21338C= (n.994-21338C=)
18g.49118853G>TCA402507203DYMc.1802C>A (p.Ser601Tyr)
c.1637C>A (p.Ser546Tyr)
c.1067C>A (p.Ser356Tyr)
c.1634C>A (p.Ser545Tyr)
c.1469C>A (p.Ser490Tyr)
c.1564-21338C>A (n.1564-21338C>A)
c.1799C>A (p.Ser600Tyr)
c.1729-21338C>A (n.1729-21338C>A)
c.1631C>A (p.Ser544Tyr)
c.1457C>A (p.Ser486Tyr)
c.1561-21338C>A (n.1561-21338C>A)
c.1558-21338C>A (n.1558-21338C>A)
n.1994C>A
c.1796C>A (p.Ser599Tyr)
c.1676C>A (p.Ser559Tyr)
c.1511C>A (p.Ser504Tyr)
c.1454C>A (p.Ser485Tyr)
c.1409C>A (p.Ser470Tyr)
c.1232C>A (p.Ser411Tyr)
c.1064C>A (p.Ser355Tyr)
c.994-21338C>A (n.994-21338C>A)
 dbSNP
18g.49118854A>CCA402507204DYMc.1801T>G (p.Ser601Ala)
c.1636T>G (p.Ser546Ala)
c.1066T>G (p.Ser356Ala)
c.1633T>G (p.Ser545Ala)
c.1468T>G (p.Ser490Ala)
c.1564-21339T>G (n.1564-21339T>G)
c.1798T>G (p.Ser600Ala)
c.1729-21339T>G (n.1729-21339T>G)
c.1630T>G (p.Ser544Ala)
c.1456T>G (p.Ser486Ala)
c.1561-21339T>G (n.1561-21339T>G)
c.1558-21339T>G (n.1558-21339T>G)
n.1993T>G
c.1795T>G (p.Ser599Ala)
c.1675T>G (p.Ser559Ala)
c.1510T>G (p.Ser504Ala)
c.1453T>G (p.Ser485Ala)
c.1408T>G (p.Ser470Ala)
c.1231T>G (p.Ser411Ala)
c.1063T>G (p.Ser355Ala)
c.994-21339T>G (n.994-21339T>G)
18g.49118854A>GCA402507205DYMc.1801T>C (p.Ser601Pro)
c.1636T>C (p.Ser546Pro)
c.1066T>C (p.Ser356Pro)
c.1633T>C (p.Ser545Pro)
c.1468T>C (p.Ser490Pro)
c.1564-21339T>C (n.1564-21339T>C)
c.1798T>C (p.Ser600Pro)
c.1729-21339T>C (n.1729-21339T>C)
c.1630T>C (p.Ser544Pro)
c.1456T>C (p.Ser486Pro)
c.1561-21339T>C (n.1561-21339T>C)
c.1558-21339T>C (n.1558-21339T>C)
n.1993T>C
c.1795T>C (p.Ser599Pro)
c.1675T>C (p.Ser559Pro)
c.1510T>C (p.Ser504Pro)
c.1453T>C (p.Ser485Pro)
c.1408T>C (p.Ser470Pro)
c.1231T>C (p.Ser411Pro)
c.1063T>C (p.Ser355Pro)
c.994-21339T>C (n.994-21339T>C)
18g.49118854A>TCA402507206DYMc.1801T>A (p.Ser601Thr)
c.1636T>A (p.Ser546Thr)
c.1066T>A (p.Ser356Thr)
c.1633T>A (p.Ser545Thr)
c.1468T>A (p.Ser490Thr)
c.1564-21339T>A (n.1564-21339T>A)
c.1798T>A (p.Ser600Thr)
c.1729-21339T>A (n.1729-21339T>A)
c.1630T>A (p.Ser544Thr)
c.1456T>A (p.Ser486Thr)
c.1561-21339T>A (n.1561-21339T>A)
c.1558-21339T>A (n.1558-21339T>A)
n.1993T>A
c.1795T>A (p.Ser599Thr)
c.1675T>A (p.Ser559Thr)
c.1510T>A (p.Ser504Thr)
c.1453T>A (p.Ser485Thr)
c.1408T>A (p.Ser470Thr)
c.1231T>A (p.Ser411Thr)
c.1063T>A (p.Ser355Thr)
c.994-21339T>A (n.994-21339T>A)
18g.49118855A=CA2302066416DYMc.1800T= (p.Asn600=)
c.1635T= (p.Asn545=)
c.1065T= (p.Asn355=)
c.1632T= (p.Asn544=)
c.1467T= (p.Asn489=)
c.1564-21340T= (n.1564-21340T=)
c.1797T= (p.Asn599=)
c.1729-21340T= (n.1729-21340T=)
c.1629T= (p.Asn543=)
c.1455T= (p.Asn485=)
c.1561-21340T= (n.1561-21340T=)
c.1558-21340T= (n.1558-21340T=)
n.1992T=
c.1794T= (p.Asn598=)
c.1674T= (p.Asn558=)
c.1509T= (p.Asn503=)
c.1452T= (p.Asn484=)
c.1407T= (p.Asn469=)
c.1230T= (p.Asn410=)
c.1062T= (p.Asn354=)
c.994-21340T= (n.994-21340T=)
18g.49118855A>CCA402507208DYMc.1800T>G (p.Asn600Lys)
c.1635T>G (p.Asn545Lys)
c.1065T>G (p.Asn355Lys)
c.1632T>G (p.Asn544Lys)
c.1467T>G (p.Asn489Lys)
c.1564-21340T>G (n.1564-21340T>G)
c.1797T>G (p.Asn599Lys)
c.1729-21340T>G (n.1729-21340T>G)
c.1629T>G (p.Asn543Lys)
c.1455T>G (p.Asn485Lys)
c.1561-21340T>G (n.1561-21340T>G)
c.1558-21340T>G (n.1558-21340T>G)
n.1992T>G
c.1794T>G (p.Asn598Lys)
c.1674T>G (p.Asn558Lys)
c.1509T>G (p.Asn503Lys)
c.1452T>G (p.Asn484Lys)
c.1407T>G (p.Asn469Lys)
c.1230T>G (p.Asn410Lys)
c.1062T>G (p.Asn354Lys)
c.994-21340T>G (n.994-21340T>G)
18g.49118855A>GCA503936358DYMc.1800T>C (p.Asn600=)
c.1635T>C (p.Asn545=)
c.1065T>C (p.Asn355=)
c.1632T>C (p.Asn544=)
c.1467T>C (p.Asn489=)
c.1564-21340T>C (n.1564-21340T>C)
c.1797T>C (p.Asn599=)
c.1729-21340T>C (n.1729-21340T>C)
c.1629T>C (p.Asn543=)
c.1455T>C (p.Asn485=)
c.1561-21340T>C (n.1561-21340T>C)
c.1558-21340T>C (n.1558-21340T>C)
n.1992T>C
c.1794T>C (p.Asn598=)
c.1674T>C (p.Asn558=)
c.1509T>C (p.Asn503=)
c.1452T>C (p.Asn484=)
c.1407T>C (p.Asn469=)
c.1230T>C (p.Asn410=)
c.1062T>C (p.Asn354=)
c.994-21340T>C (n.994-21340T>C)
 dbSNP
18g.49118855A>TCA402507207DYMc.1800T>A (p.Asn600Lys)
c.1635T>A (p.Asn545Lys)
c.1065T>A (p.Asn355Lys)
c.1632T>A (p.Asn544Lys)
c.1467T>A (p.Asn489Lys)
c.1564-21340T>A (n.1564-21340T>A)
c.1797T>A (p.Asn599Lys)
c.1729-21340T>A (n.1729-21340T>A)
c.1629T>A (p.Asn543Lys)
c.1455T>A (p.Asn485Lys)
c.1561-21340T>A (n.1561-21340T>A)
c.1558-21340T>A (n.1558-21340T>A)
n.1992T>A
c.1794T>A (p.Asn598Lys)
c.1674T>A (p.Asn558Lys)
c.1509T>A (p.Asn503Lys)
c.1452T>A (p.Asn484Lys)
c.1407T>A (p.Asn469Lys)
c.1230T>A (p.Asn410Lys)
c.1062T>A (p.Asn354Lys)
c.994-21340T>A (n.994-21340T>A)
 gnomAD v4
18g.49118856T>ACA402507209DYMc.1799A>T (p.Asn600Ile)
c.1634A>T (p.Asn545Ile)
c.1064A>T (p.Asn355Ile)
c.1631A>T (p.Asn544Ile)
c.1466A>T (p.Asn489Ile)
c.1564-21341A>T (n.1564-21341A>T)
c.1796A>T (p.Asn599Ile)
c.1729-21341A>T (n.1729-21341A>T)
c.1628A>T (p.Asn543Ile)
c.1454A>T (p.Asn485Ile)
c.1561-21341A>T (n.1561-21341A>T)
c.1558-21341A>T (n.1558-21341A>T)
n.1991A>T
c.1793A>T (p.Asn598Ile)
c.1673A>T (p.Asn558Ile)
c.1508A>T (p.Asn503Ile)
c.1451A>T (p.Asn484Ile)
c.1406A>T (p.Asn469Ile)
c.1229A>T (p.Asn410Ile)
c.1061A>T (p.Asn354Ile)
c.994-21341A>T (n.994-21341A>T)
18g.49118856T>CCA402507210DYMc.1799A>G (p.Asn600Ser)
c.1634A>G (p.Asn545Ser)
c.1064A>G (p.Asn355Ser)
c.1631A>G (p.Asn544Ser)
c.1466A>G (p.Asn489Ser)
c.1564-21341A>G (n.1564-21341A>G)
c.1796A>G (p.Asn599Ser)
c.1729-21341A>G (n.1729-21341A>G)
c.1628A>G (p.Asn543Ser)
c.1454A>G (p.Asn485Ser)
c.1561-21341A>G (n.1561-21341A>G)
c.1558-21341A>G (n.1558-21341A>G)
n.1991A>G
c.1793A>G (p.Asn598Ser)
c.1673A>G (p.Asn558Ser)
c.1508A>G (p.Asn503Ser)
c.1451A>G (p.Asn484Ser)
c.1406A>G (p.Asn469Ser)
c.1229A>G (p.Asn410Ser)
c.1061A>G (p.Asn354Ser)
c.994-21341A>G (n.994-21341A>G)
18g.49118856T>GCA402507211DYMc.1799A>C (p.Asn600Thr)
c.1634A>C (p.Asn545Thr)
c.1064A>C (p.Asn355Thr)
c.1631A>C (p.Asn544Thr)
c.1466A>C (p.Asn489Thr)
c.1564-21341A>C (n.1564-21341A>C)
c.1796A>C (p.Asn599Thr)
c.1729-21341A>C (n.1729-21341A>C)
c.1628A>C (p.Asn543Thr)
c.1454A>C (p.Asn485Thr)
c.1561-21341A>C (n.1561-21341A>C)
c.1558-21341A>C (n.1558-21341A>C)
n.1991A>C
c.1793A>C (p.Asn598Thr)
c.1673A>C (p.Asn558Thr)
c.1508A>C (p.Asn503Thr)
c.1451A>C (p.Asn484Thr)
c.1406A>C (p.Asn469Thr)
c.1229A>C (p.Asn410Thr)
c.1061A>C (p.Asn354Thr)
c.994-21341A>C (n.994-21341A>C)
18g.49118857T>ACA402507212DYMc.1798A>T (p.Asn600Tyr)
c.1633A>T (p.Asn545Tyr)
c.1063A>T (p.Asn355Tyr)
c.1630A>T (p.Asn544Tyr)
c.1465A>T (p.Asn489Tyr)
c.1564-21342A>T (n.1564-21342A>T)
c.1795A>T (p.Asn599Tyr)
c.1729-21342A>T (n.1729-21342A>T)
c.1627A>T (p.Asn543Tyr)
c.1453A>T (p.Asn485Tyr)
c.1561-21342A>T (n.1561-21342A>T)
c.1558-21342A>T (n.1558-21342A>T)
n.1990A>T
c.1792A>T (p.Asn598Tyr)
c.1672A>T (p.Asn558Tyr)
c.1507A>T (p.Asn503Tyr)
c.1450A>T (p.Asn484Tyr)
c.1405A>T (p.Asn469Tyr)
c.1228A>T (p.Asn410Tyr)
c.1060A>T (p.Asn354Tyr)
c.994-21342A>T (n.994-21342A>T)
18g.49118857T>CCA402507213DYMc.1798A>G (p.Asn600Asp)
c.1633A>G (p.Asn545Asp)
c.1063A>G (p.Asn355Asp)
c.1630A>G (p.Asn544Asp)
c.1465A>G (p.Asn489Asp)
c.1564-21342A>G (n.1564-21342A>G)
c.1795A>G (p.Asn599Asp)
c.1729-21342A>G (n.1729-21342A>G)
c.1627A>G (p.Asn543Asp)
c.1453A>G (p.Asn485Asp)
c.1561-21342A>G (n.1561-21342A>G)
c.1558-21342A>G (n.1558-21342A>G)
n.1990A>G
c.1792A>G (p.Asn598Asp)
c.1672A>G (p.Asn558Asp)
c.1507A>G (p.Asn503Asp)
c.1450A>G (p.Asn484Asp)
c.1405A>G (p.Asn469Asp)
c.1228A>G (p.Asn410Asp)
c.1060A>G (p.Asn354Asp)
c.994-21342A>G (n.994-21342A>G)
 dbSNP gnomAD v4
18g.49118857T>GCA402507214DYMc.1798A>C (p.Asn600His)
c.1633A>C (p.Asn545His)
c.1063A>C (p.Asn355His)
c.1630A>C (p.Asn544His)
c.1465A>C (p.Asn489His)
c.1564-21342A>C (n.1564-21342A>C)
c.1795A>C (p.Asn599His)
c.1729-21342A>C (n.1729-21342A>C)
c.1627A>C (p.Asn543His)
c.1453A>C (p.Asn485His)
c.1561-21342A>C (n.1561-21342A>C)
c.1558-21342A>C (n.1558-21342A>C)
n.1990A>C
c.1792A>C (p.Asn598His)
c.1672A>C (p.Asn558His)
c.1507A>C (p.Asn503His)
c.1450A>C (p.Asn484His)
c.1405A>C (p.Asn469His)
c.1228A>C (p.Asn410His)
c.1060A>C (p.Asn354His)
c.994-21342A>C (n.994-21342A>C)
18g.49118857T=CA2302066417DYMc.1798A= (p.Asn600=)
c.1633A= (p.Asn545=)
c.1063A= (p.Asn355=)
c.1630A= (p.Asn544=)
c.1465A= (p.Asn489=)
c.1564-21342A= (n.1564-21342A=)
c.1795A= (p.Asn599=)
c.1729-21342A= (n.1729-21342A=)
c.1627A= (p.Asn543=)
c.1453A= (p.Asn485=)
c.1561-21342A= (n.1561-21342A=)
c.1558-21342A= (n.1558-21342A=)
n.1990A=
c.1792A= (p.Asn598=)
c.1672A= (p.Asn558=)
c.1507A= (p.Asn503=)
c.1450A= (p.Asn484=)
c.1405A= (p.Asn469=)
c.1228A= (p.Asn410=)
c.1060A= (p.Asn354=)
c.994-21342A= (n.994-21342A=)
18g.49118858T>ACA503936359DYMc.1797A>T (p.Thr599=)
c.1632A>T (p.Thr544=)
c.1062A>T (p.Thr354=)
c.1629A>T (p.Thr543=)
c.1464A>T (p.Thr488=)
c.1564-21343A>T (n.1564-21343A>T)
c.1794A>T (p.Thr598=)
c.1729-21343A>T (n.1729-21343A>T)
c.1626A>T (p.Thr542=)
c.1452A>T (p.Thr484=)
c.1561-21343A>T (n.1561-21343A>T)
c.1558-21343A>T (n.1558-21343A>T)
n.1989A>T
c.1791A>T (p.Thr597=)
c.1671A>T (p.Thr557=)
c.1506A>T (p.Thr502=)
c.1449A>T (p.Thr483=)
c.1404A>T (p.Thr468=)
c.1227A>T (p.Thr409=)
c.1059A>T (p.Thr353=)
c.994-21343A>T (n.994-21343A>T)
18g.49118858T>CCA503936360DYMc.1797A>G (p.Thr599=)
c.1632A>G (p.Thr544=)
c.1062A>G (p.Thr354=)
c.1629A>G (p.Thr543=)
c.1464A>G (p.Thr488=)
c.1564-21343A>G (n.1564-21343A>G)
c.1794A>G (p.Thr598=)
c.1729-21343A>G (n.1729-21343A>G)
c.1626A>G (p.Thr542=)
c.1452A>G (p.Thr484=)
c.1561-21343A>G (n.1561-21343A>G)
c.1558-21343A>G (n.1558-21343A>G)
n.1989A>G
c.1791A>G (p.Thr597=)
c.1671A>G (p.Thr557=)
c.1506A>G (p.Thr502=)
c.1449A>G (p.Thr483=)
c.1404A>G (p.Thr468=)
c.1227A>G (p.Thr409=)
c.1059A>G (p.Thr353=)
c.994-21343A>G (n.994-21343A>G)
18g.49118858T>GCA503936361DYMc.1797A>C (p.Thr599=)
c.1632A>C (p.Thr544=)
c.1062A>C (p.Thr354=)
c.1629A>C (p.Thr543=)
c.1464A>C (p.Thr488=)
c.1564-21343A>C (n.1564-21343A>C)
c.1794A>C (p.Thr598=)
c.1729-21343A>C (n.1729-21343A>C)
c.1626A>C (p.Thr542=)
c.1452A>C (p.Thr484=)
c.1561-21343A>C (n.1561-21343A>C)
c.1558-21343A>C (n.1558-21343A>C)
n.1989A>C
c.1791A>C (p.Thr597=)
c.1671A>C (p.Thr557=)
c.1506A>C (p.Thr502=)
c.1449A>C (p.Thr483=)
c.1404A>C (p.Thr468=)
c.1227A>C (p.Thr409=)
c.1059A>C (p.Thr353=)
c.994-21343A>C (n.994-21343A>C)
18g.49118859G>ACA402507215DYMc.1796C>T (p.Thr599Ile)
c.1631C>T (p.Thr544Ile)
c.1061C>T (p.Thr354Ile)
c.1628C>T (p.Thr543Ile)
c.1463C>T (p.Thr488Ile)
c.1564-21344C>T (n.1564-21344C>T)
c.1793C>T (p.Thr598Ile)
c.1729-21344C>T (n.1729-21344C>T)
c.1625C>T (p.Thr542Ile)
c.1451C>T (p.Thr484Ile)
c.1561-21344C>T (n.1561-21344C>T)
c.1558-21344C>T (n.1558-21344C>T)
n.1988C>T
c.1790C>T (p.Thr597Ile)
c.1670C>T (p.Thr557Ile)
c.1505C>T (p.Thr502Ile)
c.1448C>T (p.Thr483Ile)
c.1403C>T (p.Thr468Ile)
c.1226C>T (p.Thr409Ile)
c.1058C>T (p.Thr353Ile)
c.994-21344C>T (n.994-21344C>T)
18g.49118859G>CCA402507216DYMc.1796C>G (p.Thr599Arg)
c.1631C>G (p.Thr544Arg)
c.1061C>G (p.Thr354Arg)
c.1628C>G (p.Thr543Arg)
c.1463C>G (p.Thr488Arg)
c.1564-21344C>G (n.1564-21344C>G)
c.1793C>G (p.Thr598Arg)
c.1729-21344C>G (n.1729-21344C>G)
c.1625C>G (p.Thr542Arg)
c.1451C>G (p.Thr484Arg)
c.1561-21344C>G (n.1561-21344C>G)
c.1558-21344C>G (n.1558-21344C>G)
n.1988C>G
c.1790C>G (p.Thr597Arg)
c.1670C>G (p.Thr557Arg)
c.1505C>G (p.Thr502Arg)
c.1448C>G (p.Thr483Arg)
c.1403C>G (p.Thr468Arg)
c.1226C>G (p.Thr409Arg)
c.1058C>G (p.Thr353Arg)
c.994-21344C>G (n.994-21344C>G)
18g.49118859G>TCA402507217DYMc.1796C>A (p.Thr599Lys)
c.1631C>A (p.Thr544Lys)
c.1061C>A (p.Thr354Lys)
c.1628C>A (p.Thr543Lys)
c.1463C>A (p.Thr488Lys)
c.1564-21344C>A (n.1564-21344C>A)
c.1793C>A (p.Thr598Lys)
c.1729-21344C>A (n.1729-21344C>A)
c.1625C>A (p.Thr542Lys)
c.1451C>A (p.Thr484Lys)
c.1561-21344C>A (n.1561-21344C>A)
c.1558-21344C>A (n.1558-21344C>A)
n.1988C>A
c.1790C>A (p.Thr597Lys)
c.1670C>A (p.Thr557Lys)
c.1505C>A (p.Thr502Lys)
c.1448C>A (p.Thr483Lys)
c.1403C>A (p.Thr468Lys)
c.1226C>A (p.Thr409Lys)
c.1058C>A (p.Thr353Lys)
c.994-21344C>A (n.994-21344C>A)
18g.49118860T>ACA402507218DYMc.1795A>T (p.Thr599Ser)
c.1630A>T (p.Thr544Ser)
c.1060A>T (p.Thr354Ser)
c.1627A>T (p.Thr543Ser)
c.1462A>T (p.Thr488Ser)
c.1564-21345A>T (n.1564-21345A>T)
c.1792A>T (p.Thr598Ser)
c.1729-21345A>T (n.1729-21345A>T)
c.1624A>T (p.Thr542Ser)
c.1450A>T (p.Thr484Ser)
c.1561-21345A>T (n.1561-21345A>T)
c.1558-21345A>T (n.1558-21345A>T)
n.1987A>T
c.1789A>T (p.Thr597Ser)
c.1669A>T (p.Thr557Ser)
c.1504A>T (p.Thr502Ser)
c.1447A>T (p.Thr483Ser)
c.1402A>T (p.Thr468Ser)
c.1225A>T (p.Thr409Ser)
c.1057A>T (p.Thr353Ser)
c.994-21345A>T (n.994-21345A>T)
18g.49118860T>CCA402507219DYMc.1795A>G (p.Thr599Ala)
c.1630A>G (p.Thr544Ala)
c.1060A>G (p.Thr354Ala)
c.1627A>G (p.Thr543Ala)
c.1462A>G (p.Thr488Ala)
c.1564-21345A>G (n.1564-21345A>G)
c.1792A>G (p.Thr598Ala)
c.1729-21345A>G (n.1729-21345A>G)
c.1624A>G (p.Thr542Ala)
c.1450A>G (p.Thr484Ala)
c.1561-21345A>G (n.1561-21345A>G)
c.1558-21345A>G (n.1558-21345A>G)
n.1987A>G
c.1789A>G (p.Thr597Ala)
c.1669A>G (p.Thr557Ala)
c.1504A>G (p.Thr502Ala)
c.1447A>G (p.Thr483Ala)
c.1402A>G (p.Thr468Ala)
c.1225A>G (p.Thr409Ala)
c.1057A>G (p.Thr353Ala)
c.994-21345A>G (n.994-21345A>G)
18g.49118860T>GCA402507220DYMc.1795A>C (p.Thr599Pro)
c.1630A>C (p.Thr544Pro)
c.1060A>C (p.Thr354Pro)
c.1627A>C (p.Thr543Pro)
c.1462A>C (p.Thr488Pro)
c.1564-21345A>C (n.1564-21345A>C)
c.1792A>C (p.Thr598Pro)
c.1729-21345A>C (n.1729-21345A>C)
c.1624A>C (p.Thr542Pro)
c.1450A>C (p.Thr484Pro)
c.1561-21345A>C (n.1561-21345A>C)
c.1558-21345A>C (n.1558-21345A>C)
n.1987A>C
c.1789A>C (p.Thr597Pro)
c.1669A>C (p.Thr557Pro)
c.1504A>C (p.Thr502Pro)
c.1447A>C (p.Thr483Pro)
c.1402A>C (p.Thr468Pro)
c.1225A>C (p.Thr409Pro)
c.1057A>C (p.Thr353Pro)
c.994-21345A>C (n.994-21345A>C)
18g.49118861C>ACA503936362DYMc.1794G>T (p.Leu598=)
c.1629G>T (p.Leu543=)
c.1059G>T (p.Leu353=)
c.1626G>T (p.Leu542=)
c.1461G>T (p.Leu487=)
c.1564-21346G>T (n.1564-21346G>T)
c.1791G>T (p.Leu597=)
c.1729-21346G>T (n.1729-21346G>T)
c.1623G>T (p.Leu541=)
c.1449G>T (p.Leu483=)
c.1561-21346G>T (n.1561-21346G>T)
c.1558-21346G>T (n.1558-21346G>T)
n.1986G>T
c.1788G>T (p.Leu596=)
c.1668G>T (p.Leu556=)
c.1503G>T (p.Leu501=)
c.1446G>T (p.Leu482=)
c.1401G>T (p.Leu467=)
c.1224G>T (p.Leu408=)
c.1056G>T (p.Leu352=)
c.994-21346G>T (n.994-21346G>T)
18g.49118861C=CA2302066418DYMc.1794G= (p.Leu598=)
c.1629G= (p.Leu543=)
c.1059G= (p.Leu353=)
c.1626G= (p.Leu542=)
c.1461G= (p.Leu487=)
c.1564-21346G= (n.1564-21346G=)
c.1791G= (p.Leu597=)
c.1729-21346G= (n.1729-21346G=)
c.1623G= (p.Leu541=)
c.1449G= (p.Leu483=)
c.1561-21346G= (n.1561-21346G=)
c.1558-21346G= (n.1558-21346G=)
n.1986G=
c.1788G= (p.Leu596=)
c.1668G= (p.Leu556=)
c.1503G= (p.Leu501=)
c.1446G= (p.Leu482=)
c.1401G= (p.Leu467=)
c.1224G= (p.Leu408=)
c.1056G= (p.Leu352=)
c.994-21346G= (n.994-21346G=)
18g.49118861C>GCA503936363DYMc.1794G>C (p.Leu598=)
c.1629G>C (p.Leu543=)
c.1059G>C (p.Leu353=)
c.1626G>C (p.Leu542=)
c.1461G>C (p.Leu487=)
c.1564-21346G>C (n.1564-21346G>C)
c.1791G>C (p.Leu597=)
c.1729-21346G>C (n.1729-21346G>C)
c.1623G>C (p.Leu541=)
c.1449G>C (p.Leu483=)
c.1561-21346G>C (n.1561-21346G>C)
c.1558-21346G>C (n.1558-21346G>C)
n.1986G>C
c.1788G>C (p.Leu596=)
c.1668G>C (p.Leu556=)
c.1503G>C (p.Leu501=)
c.1446G>C (p.Leu482=)
c.1401G>C (p.Leu467=)
c.1224G>C (p.Leu408=)
c.1056G>C (p.Leu352=)
c.994-21346G>C (n.994-21346G>C)
18g.49118861C>TCA503936364DYMc.1794G>A (p.Leu598=)
c.1629G>A (p.Leu543=)
c.1059G>A (p.Leu353=)
c.1626G>A (p.Leu542=)
c.1461G>A (p.Leu487=)
c.1564-21346G>A (n.1564-21346G>A)
c.1791G>A (p.Leu597=)
c.1729-21346G>A (n.1729-21346G>A)
c.1623G>A (p.Leu541=)
c.1449G>A (p.Leu483=)
c.1561-21346G>A (n.1561-21346G>A)
c.1558-21346G>A (n.1558-21346G>A)
n.1986G>A
c.1788G>A (p.Leu596=)
c.1668G>A (p.Leu556=)
c.1503G>A (p.Leu501=)
c.1446G>A (p.Leu482=)
c.1401G>A (p.Leu467=)
c.1224G>A (p.Leu408=)
c.1056G>A (p.Leu352=)
c.994-21346G>A (n.994-21346G>A)
 dbSNP
18g.49118862A>CCA402507223DYMc.1793T>G (p.Leu598Arg)
c.1628T>G (p.Leu543Arg)
c.1058T>G (p.Leu353Arg)
c.1625T>G (p.Leu542Arg)
c.1460T>G (p.Leu487Arg)
c.1564-21347T>G (n.1564-21347T>G)
c.1790T>G (p.Leu597Arg)
c.1729-21347T>G (n.1729-21347T>G)
c.1622T>G (p.Leu541Arg)
c.1448T>G (p.Leu483Arg)
c.1561-21347T>G (n.1561-21347T>G)
c.1558-21347T>G (n.1558-21347T>G)
n.1985T>G
c.1787T>G (p.Leu596Arg)
c.1667T>G (p.Leu556Arg)
c.1502T>G (p.Leu501Arg)
c.1445T>G (p.Leu482Arg)
c.1400T>G (p.Leu467Arg)
c.1223T>G (p.Leu408Arg)
c.1055T>G (p.Leu352Arg)
c.994-21347T>G (n.994-21347T>G)
18g.49118862A>GCA402507222DYMc.1793T>C (p.Leu598Pro)
c.1628T>C (p.Leu543Pro)
c.1058T>C (p.Leu353Pro)
c.1625T>C (p.Leu542Pro)
c.1460T>C (p.Leu487Pro)
c.1564-21347T>C (n.1564-21347T>C)
c.1790T>C (p.Leu597Pro)
c.1729-21347T>C (n.1729-21347T>C)
c.1622T>C (p.Leu541Pro)
c.1448T>C (p.Leu483Pro)
c.1561-21347T>C (n.1561-21347T>C)
c.1558-21347T>C (n.1558-21347T>C)
n.1985T>C
c.1787T>C (p.Leu596Pro)
c.1667T>C (p.Leu556Pro)
c.1502T>C (p.Leu501Pro)
c.1445T>C (p.Leu482Pro)
c.1400T>C (p.Leu467Pro)
c.1223T>C (p.Leu408Pro)
c.1055T>C (p.Leu352Pro)
c.994-21347T>C (n.994-21347T>C)
18g.49118862A>TCA402507221DYMc.1793T>A (p.Leu598Gln)
c.1628T>A (p.Leu543Gln)
c.1058T>A (p.Leu353Gln)
c.1625T>A (p.Leu542Gln)
c.1460T>A (p.Leu487Gln)
c.1564-21347T>A (n.1564-21347T>A)
c.1790T>A (p.Leu597Gln)
c.1729-21347T>A (n.1729-21347T>A)
c.1622T>A (p.Leu541Gln)
c.1448T>A (p.Leu483Gln)
c.1561-21347T>A (n.1561-21347T>A)
c.1558-21347T>A (n.1558-21347T>A)
n.1985T>A
c.1787T>A (p.Leu596Gln)
c.1667T>A (p.Leu556Gln)
c.1502T>A (p.Leu501Gln)
c.1445T>A (p.Leu482Gln)
c.1400T>A (p.Leu467Gln)
c.1223T>A (p.Leu408Gln)
c.1055T>A (p.Leu352Gln)
c.994-21347T>A (n.994-21347T>A)
18g.49118863G>ACA8958018DYMc.1792C>T (p.Leu598=)
c.1627C>T (p.Leu543=)
c.1057C>T (p.Leu353=)
c.1624C>T (p.Leu542=)
c.1459C>T (p.Leu487=)
c.1564-21348C>T (n.1564-21348C>T)
c.1789C>T (p.Leu597=)
c.1729-21348C>T (n.1729-21348C>T)
c.1621C>T (p.Leu541=)
c.1447C>T (p.Leu483=)
c.1561-21348C>T (n.1561-21348C>T)
c.1558-21348C>T (n.1558-21348C>T)
n.1984C>T
c.1786C>T (p.Leu596=)
c.1666C>T (p.Leu556=)
c.1501C>T (p.Leu501=)
c.1444C>T (p.Leu482=)
c.1399C>T (p.Leu467=)
c.1222C>T (p.Leu408=)
c.1054C>T (p.Leu352=)
c.994-21348C>T (n.994-21348C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.49118863G>CCA402507225DYMc.1792C>G (p.Leu598Val)
c.1627C>G (p.Leu543Val)
c.1057C>G (p.Leu353Val)
c.1624C>G (p.Leu542Val)
c.1459C>G (p.Leu487Val)
c.1564-21348C>G (n.1564-21348C>G)
c.1789C>G (p.Leu597Val)
c.1729-21348C>G (n.1729-21348C>G)
c.1621C>G (p.Leu541Val)
c.1447C>G (p.Leu483Val)
c.1561-21348C>G (n.1561-21348C>G)
c.1558-21348C>G (n.1558-21348C>G)
n.1984C>G
c.1786C>G (p.Leu596Val)
c.1666C>G (p.Leu556Val)
c.1501C>G (p.Leu501Val)
c.1444C>G (p.Leu482Val)
c.1399C>G (p.Leu467Val)
c.1222C>G (p.Leu408Val)
c.1054C>G (p.Leu352Val)
c.994-21348C>G (n.994-21348C>G)
18g.49118863G=CA2302066419DYMc.1792C= (p.Leu598=)
c.1627C= (p.Leu543=)
c.1057C= (p.Leu353=)
c.1624C= (p.Leu542=)
c.1459C= (p.Leu487=)
c.1564-21348C= (n.1564-21348C=)
c.1789C= (p.Leu597=)
c.1729-21348C= (n.1729-21348C=)
c.1621C= (p.Leu541=)
c.1447C= (p.Leu483=)
c.1561-21348C= (n.1561-21348C=)
c.1558-21348C= (n.1558-21348C=)
n.1984C=
c.1786C= (p.Leu596=)
c.1666C= (p.Leu556=)
c.1501C= (p.Leu501=)
c.1444C= (p.Leu482=)
c.1399C= (p.Leu467=)
c.1222C= (p.Leu408=)
c.1054C= (p.Leu352=)
c.994-21348C= (n.994-21348C=)
18g.49118863G>TCA402507224DYMc.1792C>A (p.Leu598Met)
c.1627C>A (p.Leu543Met)
c.1057C>A (p.Leu353Met)
c.1624C>A (p.Leu542Met)
c.1459C>A (p.Leu487Met)
c.1564-21348C>A (n.1564-21348C>A)
c.1789C>A (p.Leu597Met)
c.1729-21348C>A (n.1729-21348C>A)
c.1621C>A (p.Leu541Met)
c.1447C>A (p.Leu483Met)
c.1561-21348C>A (n.1561-21348C>A)
c.1558-21348C>A (n.1558-21348C>A)
n.1984C>A
c.1786C>A (p.Leu596Met)
c.1666C>A (p.Leu556Met)
c.1501C>A (p.Leu501Met)
c.1444C>A (p.Leu482Met)
c.1399C>A (p.Leu467Met)
c.1222C>A (p.Leu408Met)
c.1054C>A (p.Leu352Met)
c.994-21348C>A (n.994-21348C>A)
18g.49118864G>ACA503936365DYMc.1791C>T (p.Cys597=)
c.1626C>T (p.Cys542=)
c.1056C>T (p.Cys352=)
c.1623C>T (p.Cys541=)
c.1458C>T (p.Cys486=)
c.1564-21349C>T (n.1564-21349C>T)
c.1788C>T (p.Cys596=)
c.1729-21349C>T (n.1729-21349C>T)
c.1620C>T (p.Cys540=)
c.1446C>T (p.Cys482=)
c.1561-21349C>T (n.1561-21349C>T)
c.1558-21349C>T (n.1558-21349C>T)
n.1983C>T
c.1785C>T (p.Cys595=)
c.1665C>T (p.Cys555=)
c.1500C>T (p.Cys500=)
c.1443C>T (p.Cys481=)
c.1398C>T (p.Cys466=)
c.1221C>T (p.Cys407=)
c.1053C>T (p.Cys351=)
c.994-21349C>T (n.994-21349C>T)
18g.49118864G>CCA402507226DYMc.1791C>G (p.Cys597Trp)
c.1626C>G (p.Cys542Trp)
c.1056C>G (p.Cys352Trp)
c.1623C>G (p.Cys541Trp)
c.1458C>G (p.Cys486Trp)
c.1564-21349C>G (n.1564-21349C>G)
c.1788C>G (p.Cys596Trp)
c.1729-21349C>G (n.1729-21349C>G)
c.1620C>G (p.Cys540Trp)
c.1446C>G (p.Cys482Trp)
c.1561-21349C>G (n.1561-21349C>G)
c.1558-21349C>G (n.1558-21349C>G)
n.1983C>G
c.1785C>G (p.Cys595Trp)
c.1665C>G (p.Cys555Trp)
c.1500C>G (p.Cys500Trp)
c.1443C>G (p.Cys481Trp)
c.1398C>G (p.Cys466Trp)
c.1221C>G (p.Cys407Trp)
c.1053C>G (p.Cys351Trp)
c.994-21349C>G (n.994-21349C>G)
18g.49118864G>TCA402507227DYMc.1791C>A (p.Cys597Ter)
c.1626C>A (p.Cys542Ter)
c.1056C>A (p.Cys352Ter)
c.1623C>A (p.Cys541Ter)
c.1458C>A (p.Cys486Ter)
c.1564-21349C>A (n.1564-21349C>A)
c.1788C>A (p.Cys596Ter)
c.1729-21349C>A (n.1729-21349C>A)
c.1620C>A (p.Cys540Ter)
c.1446C>A (p.Cys482Ter)
c.1561-21349C>A (n.1561-21349C>A)
c.1558-21349C>A (n.1558-21349C>A)
n.1983C>A
c.1785C>A (p.Cys595Ter)
c.1665C>A (p.Cys555Ter)
c.1500C>A (p.Cys500Ter)
c.1443C>A (p.Cys481Ter)
c.1398C>A (p.Cys466Ter)
c.1221C>A (p.Cys407Ter)
c.1053C>A (p.Cys351Ter)
c.994-21349C>A (n.994-21349C>A)
18g.49118865C>ACA402507228DYMc.1790G>T (p.Cys597Phe)
c.1625G>T (p.Cys542Phe)
c.1055G>T (p.Cys352Phe)
c.1622G>T (p.Cys541Phe)
c.1457G>T (p.Cys486Phe)
c.1564-21350G>T (n.1564-21350G>T)
c.1787G>T (p.Cys596Phe)
c.1729-21350G>T (n.1729-21350G>T)
c.1619G>T (p.Cys540Phe)
c.1445G>T (p.Cys482Phe)
c.1561-21350G>T (n.1561-21350G>T)
c.1558-21350G>T (n.1558-21350G>T)
n.1982G>T
c.1784G>T (p.Cys595Phe)
c.1664G>T (p.Cys555Phe)
c.1499G>T (p.Cys500Phe)
c.1442G>T (p.Cys481Phe)
c.1397G>T (p.Cys466Phe)
c.1220G>T (p.Cys407Phe)
c.1052G>T (p.Cys351Phe)
c.994-21350G>T (n.994-21350G>T)
18g.49118865C>GCA402507229DYMc.1790G>C (p.Cys597Ser)
c.1625G>C (p.Cys542Ser)
c.1055G>C (p.Cys352Ser)
c.1622G>C (p.Cys541Ser)
c.1457G>C (p.Cys486Ser)
c.1564-21350G>C (n.1564-21350G>C)
c.1787G>C (p.Cys596Ser)
c.1729-21350G>C (n.1729-21350G>C)
c.1619G>C (p.Cys540Ser)
c.1445G>C (p.Cys482Ser)
c.1561-21350G>C (n.1561-21350G>C)
c.1558-21350G>C (n.1558-21350G>C)
n.1982G>C
c.1784G>C (p.Cys595Ser)
c.1664G>C (p.Cys555Ser)
c.1499G>C (p.Cys500Ser)
c.1442G>C (p.Cys481Ser)
c.1397G>C (p.Cys466Ser)
c.1220G>C (p.Cys407Ser)
c.1052G>C (p.Cys351Ser)
c.994-21350G>C (n.994-21350G>C)
18g.49118865C>TCA402507230DYMc.1790G>A (p.Cys597Tyr)
c.1625G>A (p.Cys542Tyr)
c.1055G>A (p.Cys352Tyr)
c.1622G>A (p.Cys541Tyr)
c.1457G>A (p.Cys486Tyr)
c.1564-21350G>A (n.1564-21350G>A)
c.1787G>A (p.Cys596Tyr)
c.1729-21350G>A (n.1729-21350G>A)
c.1619G>A (p.Cys540Tyr)
c.1445G>A (p.Cys482Tyr)
c.1561-21350G>A (n.1561-21350G>A)
c.1558-21350G>A (n.1558-21350G>A)
n.1982G>A
c.1784G>A (p.Cys595Tyr)
c.1664G>A (p.Cys555Tyr)
c.1499G>A (p.Cys500Tyr)
c.1442G>A (p.Cys481Tyr)
c.1397G>A (p.Cys466Tyr)
c.1220G>A (p.Cys407Tyr)
c.1052G>A (p.Cys351Tyr)
c.994-21350G>A (n.994-21350G>A)
18g.49118866A=CA2302066420DYMc.1789T= (p.Cys597=)
c.1624T= (p.Cys542=)
c.1054T= (p.Cys352=)
c.1621T= (p.Cys541=)
c.1456T= (p.Cys486=)
c.1564-21351T= (n.1564-21351T=)
c.1786T= (p.Cys596=)
c.1729-21351T= (n.1729-21351T=)
c.1618T= (p.Cys540=)
c.1444T= (p.Cys482=)
c.1561-21351T= (n.1561-21351T=)
c.1558-21351T= (n.1558-21351T=)
n.1981T=
c.1783T= (p.Cys595=)
c.1663T= (p.Cys555=)
c.1498T= (p.Cys500=)
c.1441T= (p.Cys481=)
c.1396T= (p.Cys466=)
c.1219T= (p.Cys407=)
c.1051T= (p.Cys351=)
c.994-21351T= (n.994-21351T=)
18g.49118866A>CCA402507231DYMc.1789T>G (p.Cys597Gly)
c.1624T>G (p.Cys542Gly)
c.1054T>G (p.Cys352Gly)
c.1621T>G (p.Cys541Gly)
c.1456T>G (p.Cys486Gly)
c.1564-21351T>G (n.1564-21351T>G)
c.1786T>G (p.Cys596Gly)
c.1729-21351T>G (n.1729-21351T>G)
c.1618T>G (p.Cys540Gly)
c.1444T>G (p.Cys482Gly)
c.1561-21351T>G (n.1561-21351T>G)
c.1558-21351T>G (n.1558-21351T>G)
n.1981T>G
c.1783T>G (p.Cys595Gly)
c.1663T>G (p.Cys555Gly)
c.1498T>G (p.Cys500Gly)
c.1441T>G (p.Cys481Gly)
c.1396T>G (p.Cys466Gly)
c.1219T>G (p.Cys407Gly)
c.1051T>G (p.Cys351Gly)
c.994-21351T>G (n.994-21351T>G)
18g.49118866A>GCA116051DYMc.1789T>C (p.Cys597Arg)
c.1624T>C (p.Cys542Arg)
c.1054T>C (p.Cys352Arg)
c.1621T>C (p.Cys541Arg)
c.1456T>C (p.Cys486Arg)
c.1564-21351T>C (n.1564-21351T>C)
c.1786T>C (p.Cys596Arg)
c.1729-21351T>C (n.1729-21351T>C)
c.1618T>C (p.Cys540Arg)
c.1444T>C (p.Cys482Arg)
c.1561-21351T>C (n.1561-21351T>C)
c.1558-21351T>C (n.1558-21351T>C)
n.1981T>C
c.1783T>C (p.Cys595Arg)
c.1663T>C (p.Cys555Arg)
c.1498T>C (p.Cys500Arg)
c.1441T>C (p.Cys481Arg)
c.1396T>C (p.Cys466Arg)
c.1219T>C (p.Cys407Arg)
c.1051T>C (p.Cys351Arg)
c.994-21351T>C (n.994-21351T>C)
 ClinVar dbSNP
18g.49118866A>TCA402507232DYMc.1789T>A (p.Cys597Ser)
c.1624T>A (p.Cys542Ser)
c.1054T>A (p.Cys352Ser)
c.1621T>A (p.Cys541Ser)
c.1456T>A (p.Cys486Ser)
c.1564-21351T>A (n.1564-21351T>A)
c.1786T>A (p.Cys596Ser)
c.1729-21351T>A (n.1729-21351T>A)
c.1618T>A (p.Cys540Ser)
c.1444T>A (p.Cys482Ser)
c.1561-21351T>A (n.1561-21351T>A)
c.1558-21351T>A (n.1558-21351T>A)
n.1981T>A
c.1783T>A (p.Cys595Ser)
c.1663T>A (p.Cys555Ser)
c.1498T>A (p.Cys500Ser)
c.1441T>A (p.Cys481Ser)
c.1396T>A (p.Cys466Ser)
c.1219T>A (p.Cys407Ser)
c.1051T>A (p.Cys351Ser)
c.994-21351T>A (n.994-21351T>A)

Number of alleles fetched