WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.49118766T>A | CA402507013 | DYM | c.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) | |
| 18 | g.49118766T>C | CA402507014 | DYM | c.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) | |
| 18 | g.49118766T>G | CA402507015 | DYM | c.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) | |
| 18 | g.49118767C>A | CA402507016 | DYM | c.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) | |
| 18 | g.49118767C>G | CA402507017 | DYM | c.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) | |
| 18 | g.49118767C>T | CA402507018 | DYM | c.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) | |
| 18 | g.49118768C>A | CA402507019 | DYM | c.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) | |
| 18 | g.49118768C= | CA2302066380 | DYM | c.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=) | |
| 18 | g.49118768C>G | CA402507020 | DYM | c.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 |
| 18 | g.49118768C>T | CA503936271 | DYM | c.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 |
| 18 | g.49118769T>A | CA402507022 | DYM | c.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) | |
| 18 | g.49118769T>C | CA300360636 | DYM | c.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 |
| 18 | g.49118769T>G | CA402507021 | DYM | c.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) | |
| 18 | g.49118769T= | CA2302066381 | DYM | c.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=) | |
| 18 | g.49118770G>A | CA402507023 | DYM | c.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) | |
| 18 | g.49118770G>C | CA402507024 | DYM | c.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) | |
| 18 | g.49118770G>T | CA402507025 | DYM | c.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) | |
| 18 | g.49118771A= | CA2302066382 | DYM | c.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=) | |
| 18 | g.49118771A>C | CA8958000 | DYM | c.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 |
| 18 | g.49118771A>G | CA503936277 | DYM | c.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) | |
| 18 | g.49118771A>T | CA402507026 | DYM | c.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) | |
| 18 | g.49118772A>C | CA402507027 | DYM | c.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) | |
| 18 | g.49118772A>G | CA402507028 | DYM | c.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) | |
| 18 | g.49118772A>T | CA402507029 | DYM | c.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) | |
| 18 | g.49118773A= | CA2302066383 | DYM | c.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=) | |
| 18 | g.49118773A>C | CA402507030 | DYM | c.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) | |
| 18 | g.49118773A>G | CA402507031 | DYM | c.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) | |
| 18 | g.49118773A>T | CA402507032 | DYM | c.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 |
| 18 | g.49118774T>A | CA503936280 | DYM | c.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) | |
| 18 | g.49118774T>C | CA8958001 | DYM | c.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 |
| 18 | g.49118774T>G | CA503936281 | DYM | c.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) | |
| 18 | g.49118774T= | CA2302066384 | DYM | c.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=) | |
| 18 | g.49118775G>A | CA402507034 | DYM | c.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 |
| 18 | g.49118775G>C | CA402507035 | DYM | c.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) | |
| 18 | g.49118775G= | CA2302066385 | DYM | c.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=) | |
| 18 | g.49118775G>T | CA402507033 | DYM | c.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 |
| 18 | g.49118776A>C | CA402507036 | DYM | c.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) | |
| 18 | g.49118776A>G | CA402507037 | DYM | c.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) | |
| 18 | g.49118776A>T | CA402507038 | DYM | c.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) | |
| 18 | g.49118777A>C | CA503936285 | DYM | c.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) | |
| 18 | g.49118777A>G | CA503936286 | DYM | c.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) | |
| 18 | g.49118777A>T | CA503936287 | DYM | c.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) | |
| 18 | g.49118778G>A | CA402507039 | DYM | c.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) | |
| 18 | g.49118778G>C | CA402507040 | DYM | c.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 |
| 18 | g.49118778G= | CA2302066386 | DYM | c.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=) | |
| 18 | g.49118778G>T | CA402507041 | DYM | c.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) | |
| 18 | g.49118779G>A | CA402507044 | DYM | c.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) | |
| 18 | g.49118779G>C | CA402507042 | DYM | c.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) | |
| 18 | g.49118779G>T | CA402507043 | DYM | c.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) | |
| 18 | g.49118780A= | CA2302066387 | DYM | c.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=) |