UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.13948009_13948012delinsTCTC | CA2209082821 | ERCC4 | c.2551_2554delinsTCTC (p.Ser851=) c.*2107_*2110delinsTCTC (n.*2107_*2110delinsTCTC) c.2413_2416delinsTCTC (p.Ser805=) n.1690_1693delinsTCTC c.1870_1873delinsTCTC (p.Ser624=) c.1624_1627delinsTCTC (p.Ser542=) c.1063_1066delinsTCTC (p.Ser355=) n.2572_2575delinsTCTC | |
| 16 | g.13948010C>A | CA394823588 | ERCC4 | c.2552C>A (p.Ser851Tyr) c.*2108C>A (n.*2108C>A) c.2414C>A (p.Ser805Tyr) n.1691C>A c.1871C>A (p.Ser624Tyr) c.1625C>A (p.Ser542Tyr) c.1064C>A (p.Ser355Tyr) n.2573C>A | |
| 16 | g.13948010C= | CA2209082823 | ERCC4 | c.2552C= (p.Ser851=) c.*2108C= (n.*2108C=) c.2414C= (p.Ser805=) n.1691C= c.1871C= (p.Ser624=) c.1625C= (p.Ser542=) c.1064C= (p.Ser355=) n.2573C= | |
| 16 | g.13948010C>G | CA394823593 | ERCC4 | c.2552C>G (p.Ser851Cys) c.*2108C>G (n.*2108C>G) c.2414C>G (p.Ser805Cys) n.1691C>G c.1871C>G (p.Ser624Cys) c.1625C>G (p.Ser542Cys) c.1064C>G (p.Ser355Cys) n.2573C>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.13948010C>T | CA394823595 | ERCC4 | c.2552C>T (p.Ser851Phe) c.*2108C>T (n.*2108C>T) c.2414C>T (p.Ser805Phe) n.1691C>T c.1871C>T (p.Ser624Phe) c.1625C>T (p.Ser542Phe) c.1064C>T (p.Ser355Phe) n.2573C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.13948013_13948015del | CA919662894 | ERCC4 | c.2555_2557del (p.Pro852del) c.*2111_*2113del (n.*2111_*2113del) c.2417_2419del (p.Pro806del) n.1694_1696del c.1874_1876del (p.Pro625del) c.1628_1630del (p.Pro543del) c.1067_1069del (p.Pro356del) n.2576_2578del | dbSNP gnomAD v4 |
| 16 | g.13948011T>A | CA493690051 | ERCC4 | c.2553T>A (p.Ser851=) c.*2109T>A (n.*2109T>A) c.2415T>A (p.Ser805=) n.1692T>A c.1872T>A (p.Ser624=) c.1626T>A (p.Ser542=) c.1065T>A (p.Ser355=) n.2574T>A | |
| 16 | g.13948011T>C | CA493690052 | ERCC4 | c.2553T>C (p.Ser851=) c.*2109T>C (n.*2109T>C) c.2415T>C (p.Ser805=) n.1692T>C c.1872T>C (p.Ser624=) c.1626T>C (p.Ser542=) c.1065T>C (p.Ser355=) n.2574T>C | gnomAD v4 |
| 16 | g.13948011T>G | CA493690053 | ERCC4 | c.2553T>G (p.Ser851=) c.*2109T>G (n.*2109T>G) c.2415T>G (p.Ser805=) n.1692T>G c.1872T>G (p.Ser624=) c.1626T>G (p.Ser542=) c.1065T>G (p.Ser355=) n.2574T>G | |
| 16 | g.13948012C>A | CA394823605 | ERCC4 | c.2554C>A (p.Pro852Thr) c.*2110C>A (n.*2110C>A) c.2416C>A (p.Pro806Thr) n.1693C>A c.1873C>A (p.Pro625Thr) c.1627C>A (p.Pro543Thr) c.1066C>A (p.Pro356Thr) n.2575C>A | |
| 16 | g.13948012C>G | CA394823602 | ERCC4 | c.2554C>G (p.Pro852Ala) c.*2110C>G (n.*2110C>G) c.2416C>G (p.Pro806Ala) n.1693C>G c.1873C>G (p.Pro625Ala) c.1627C>G (p.Pro543Ala) c.1066C>G (p.Pro356Ala) n.2575C>G | |
| 16 | g.13948012C>T | CA394823599 | ERCC4 | c.2554C>T (p.Pro852Ser) c.*2110C>T (n.*2110C>T) c.2416C>T (p.Pro806Ser) n.1693C>T c.1873C>T (p.Pro625Ser) c.1627C>T (p.Pro543Ser) c.1066C>T (p.Pro356Ser) n.2575C>T | gnomAD v4 COSMIC |
| 16 | g.13948013C>A | CA394823613 | ERCC4 | c.2555C>A (p.Pro852His) c.*2111C>A (n.*2111C>A) c.2417C>A (p.Pro806His) n.1694C>A c.1874C>A (p.Pro625His) c.1628C>A (p.Pro543His) c.1067C>A (p.Pro356His) n.2576C>A | |
| 16 | g.13948013C>G | CA394823609 | ERCC4 | c.2555C>G (p.Pro852Arg) c.*2111C>G (n.*2111C>G) c.2417C>G (p.Pro806Arg) n.1694C>G c.1874C>G (p.Pro625Arg) c.1628C>G (p.Pro543Arg) c.1067C>G (p.Pro356Arg) n.2576C>G | |
| 16 | g.13948013C>T | CA394823617 | ERCC4 | c.2555C>T (p.Pro852Leu) c.*2111C>T (n.*2111C>T) c.2417C>T (p.Pro806Leu) n.1694C>T c.1874C>T (p.Pro625Leu) c.1628C>T (p.Pro543Leu) c.1067C>T (p.Pro356Leu) n.2576C>T | |
| 16 | g.13948014T>A | CA493690056 | ERCC4 | c.2556T>A (p.Pro852=) c.*2112T>A (n.*2112T>A) c.2418T>A (p.Pro806=) n.1695T>A c.1875T>A (p.Pro625=) c.1629T>A (p.Pro543=) c.1068T>A (p.Pro356=) n.2577T>A | |
| 16 | g.13948014T>C | CA493690054 | ERCC4 | c.2556T>C (p.Pro852=) c.*2112T>C (n.*2112T>C) c.2418T>C (p.Pro806=) n.1695T>C c.1875T>C (p.Pro625=) c.1629T>C (p.Pro543=) c.1068T>C (p.Pro356=) n.2577T>C | |
| 16 | g.13948014T>G | CA493690055 | ERCC4 | c.2556T>G (p.Pro852=) c.*2112T>G (n.*2112T>G) c.2418T>G (p.Pro806=) n.1695T>G c.1875T>G (p.Pro625=) c.1629T>G (p.Pro543=) c.1068T>G (p.Pro356=) n.2577T>G | |
| 16 | g.13948015C>A | CA278485603 | ERCC4 | c.2557C>A (p.His853Asn) c.*2113C>A (n.*2113C>A) c.2419C>A (p.His807Asn) n.1696C>A c.1876C>A (p.His626Asn) c.1630C>A (p.His544Asn) c.1069C>A (p.His357Asn) n.2578C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.13948015C= | CA2209082824 | ERCC4 | c.2557C= (p.His853=) c.*2113C= (n.*2113C=) c.2419C= (p.His807=) n.1696C= c.1876C= (p.His626=) c.1630C= (p.His544=) c.1069C= (p.His357=) n.2578C= | |
| 16 | g.13948015C>G | CA394823622 | ERCC4 | c.2557C>G (p.His853Asp) c.*2113C>G (n.*2113C>G) c.2419C>G (p.His807Asp) n.1696C>G c.1876C>G (p.His626Asp) c.1630C>G (p.His544Asp) c.1069C>G (p.His357Asp) n.2578C>G | |
| 16 | g.13948015C>T | CA394823626 | ERCC4 | c.2557C>T (p.His853Tyr) c.*2113C>T (n.*2113C>T) c.2419C>T (p.His807Tyr) n.1696C>T c.1876C>T (p.His626Tyr) c.1630C>T (p.His544Tyr) c.1069C>T (p.His357Tyr) n.2578C>T | |
| 16 | g.13948016A>C | CA394823631 | ERCC4 | c.2558A>C (p.His853Pro) c.*2114A>C (n.*2114A>C) c.2420A>C (p.His807Pro) n.1697A>C c.1877A>C (p.His626Pro) c.1631A>C (p.His544Pro) c.1070A>C (p.His357Pro) n.2579A>C | |
| 16 | g.13948016A>G | CA394823634 | ERCC4 | c.2558A>G (p.His853Arg) c.*2114A>G (n.*2114A>G) c.2420A>G (p.His807Arg) n.1697A>G c.1877A>G (p.His626Arg) c.1631A>G (p.His544Arg) c.1070A>G (p.His357Arg) n.2579A>G | gnomAD v4 |
| 16 | g.13948016A>T | CA394823636 | ERCC4 | c.2558A>T (p.His853Leu) c.*2114A>T (n.*2114A>T) c.2420A>T (p.His807Leu) n.1697A>T c.1877A>T (p.His626Leu) c.1631A>T (p.His544Leu) c.1070A>T (p.His357Leu) n.2579A>T | |
| 16 | g.13948017T>A | CA394823642 | ERCC4 | c.2559T>A (p.His853Gln) c.*2115T>A (n.*2115T>A) c.2421T>A (p.His807Gln) n.1698T>A c.1878T>A (p.His626Gln) c.1632T>A (p.His544Gln) c.1071T>A (p.His357Gln) n.2580T>A | |
| 16 | g.13948017T>C | CA493690057 | ERCC4 | c.2559T>C (p.His853=) c.*2115T>C (n.*2115T>C) c.2421T>C (p.His807=) n.1698T>C c.1878T>C (p.His626=) c.1632T>C (p.His544=) c.1071T>C (p.His357=) n.2580T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.13948017T>G | CA394823643 | ERCC4 | c.2559T>G (p.His853Gln) c.*2115T>G (n.*2115T>G) c.2421T>G (p.His807Gln) n.1698T>G c.1878T>G (p.His626Gln) c.1632T>G (p.His544Gln) c.1071T>G (p.His357Gln) n.2580T>G | |
| 16 | g.13948017T= | CA2209082825 | ERCC4 | c.2559T= (p.His853=) c.*2115T= (n.*2115T=) c.2421T= (p.His807=) n.1698T= c.1878T= (p.His626=) c.1632T= (p.His544=) c.1071T= (p.His357=) n.2580T= | |
| 16 | g.13948018G>A | CA394823647 | ERCC4 | c.2560G>A (p.Ala854Thr) c.*2116G>A (n.*2116G>A) c.2422G>A (p.Ala808Thr) n.1699G>A c.1879G>A (p.Ala627Thr) c.1633G>A (p.Ala545Thr) c.1072G>A (p.Ala358Thr) n.2581G>A | |
| 16 | g.13948018G>C | CA394823651 | ERCC4 | c.2560G>C (p.Ala854Pro) c.*2116G>C (n.*2116G>C) c.2422G>C (p.Ala808Pro) n.1699G>C c.1879G>C (p.Ala627Pro) c.1633G>C (p.Ala545Pro) c.1072G>C (p.Ala358Pro) n.2581G>C | |
| 16 | g.13948018G>T | CA394823654 | ERCC4 | c.2560G>T (p.Ala854Ser) c.*2116G>T (n.*2116G>T) c.2422G>T (p.Ala808Ser) n.1699G>T c.1879G>T (p.Ala627Ser) c.1633G>T (p.Ala545Ser) c.1072G>T (p.Ala358Ser) n.2581G>T | |
| 16 | g.13948019C>A | CA394823659 | ERCC4 | c.2561C>A (p.Ala854Glu) c.*2117C>A (n.*2117C>A) c.2423C>A (p.Ala808Glu) n.1700C>A c.1880C>A (p.Ala627Glu) c.1634C>A (p.Ala545Glu) c.1073C>A (p.Ala358Glu) n.2582C>A | |
| 16 | g.13948019C= | CA2209082826 | ERCC4 | c.2561C= (p.Ala854=) c.*2117C= (n.*2117C=) c.2423C= (p.Ala808=) n.1700C= c.1880C= (p.Ala627=) c.1634C= (p.Ala545=) c.1073C= (p.Ala358=) n.2582C= | |
| 16 | g.13948019C>G | CA7910734 | ERCC4 | c.2561C>G (p.Ala854Gly) c.*2117C>G (n.*2117C>G) c.2423C>G (p.Ala808Gly) n.1700C>G c.1880C>G (p.Ala627Gly) c.1634C>G (p.Ala545Gly) c.1073C>G (p.Ala358Gly) n.2582C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.13948019C>T | CA394823664 | ERCC4 | c.2561C>T (p.Ala854Val) c.*2117C>T (n.*2117C>T) c.2423C>T (p.Ala808Val) n.1700C>T c.1880C>T (p.Ala627Val) c.1634C>T (p.Ala545Val) c.1073C>T (p.Ala358Val) n.2582C>T | dbSNP |
| 16 | g.13948020A= | CA2209082827 | ERCC4 | c.2562A= (p.Ala854=) c.*2118A= (n.*2118A=) c.2424A= (p.Ala808=) n.1701A= c.1881A= (p.Ala627=) c.1635A= (p.Ala545=) c.1074A= (p.Ala358=) n.2583A= | |
| 16 | g.13948020A>C | CA493690058 | ERCC4 | c.2562A>C (p.Ala854=) c.*2118A>C (n.*2118A>C) c.2424A>C (p.Ala808=) n.1701A>C c.1881A>C (p.Ala627=) c.1635A>C (p.Ala545=) c.1074A>C (p.Ala358=) n.2583A>C | |
| 16 | g.13948020A>G | CA493690060 | ERCC4 | c.2562A>G (p.Ala854=) c.*2118A>G (n.*2118A>G) c.2424A>G (p.Ala808=) n.1701A>G c.1881A>G (p.Ala627=) c.1635A>G (p.Ala545=) c.1074A>G (p.Ala358=) n.2583A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.13948020A>T | CA493690059 | ERCC4 | c.2562A>T (p.Ala854=) c.*2118A>T (n.*2118A>T) c.2424A>T (p.Ala808=) n.1701A>T c.1881A>T (p.Ala627=) c.1635A>T (p.Ala545=) c.1074A>T (p.Ala358=) n.2583A>T | |
| 16 | g.13948021A= | CA2209082828 | ERCC4 | c.2563A= (p.Thr855=) c.*2119A= (n.*2119A=) c.2425A= (p.Thr809=) n.1702A= c.1882A= (p.Thr628=) c.1636A= (p.Thr546=) c.1075A= (p.Thr359=) n.2584A= | |
| 16 | g.13948021A>C | CA394823669 | ERCC4 | c.2563A>C (p.Thr855Pro) c.*2119A>C (n.*2119A>C) c.2425A>C (p.Thr809Pro) n.1702A>C c.1882A>C (p.Thr628Pro) c.1636A>C (p.Thr546Pro) c.1075A>C (p.Thr359Pro) n.2584A>C | |
| 16 | g.13948021A>G | CA394823668 | ERCC4 | c.2563A>G (p.Thr855Ala) c.*2119A>G (n.*2119A>G) c.2425A>G (p.Thr809Ala) n.1702A>G c.1882A>G (p.Thr628Ala) c.1636A>G (p.Thr546Ala) c.1075A>G (p.Thr359Ala) n.2584A>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.13948021A>T | CA394823667 | ERCC4 | c.2563A>T (p.Thr855Ser) c.*2119A>T (n.*2119A>T) c.2425A>T (p.Thr809Ser) n.1702A>T c.1882A>T (p.Thr628Ser) c.1636A>T (p.Thr546Ser) c.1075A>T (p.Thr359Ser) n.2584A>T | |
| 16 | g.13948022C>A | CA394823673 | ERCC4 | c.2564C>A (p.Thr855Lys) c.*2120C>A (n.*2120C>A) c.2426C>A (p.Thr809Lys) n.1703C>A c.1883C>A (p.Thr628Lys) c.1637C>A (p.Thr546Lys) c.1076C>A (p.Thr359Lys) n.2585C>A | gnomAD v4 |
| 16 | g.13948022C= | CA2209082829 | ERCC4 | c.2564C= (p.Thr855=) c.*2120C= (n.*2120C=) c.2426C= (p.Thr809=) n.1703C= c.1883C= (p.Thr628=) c.1637C= (p.Thr546=) c.1076C= (p.Thr359=) n.2585C= | |
| 16 | g.13948022C>G | CA394823676 | ERCC4 | c.2564C>G (p.Thr855Arg) c.*2120C>G (n.*2120C>G) c.2426C>G (p.Thr809Arg) n.1703C>G c.1883C>G (p.Thr628Arg) c.1637C>G (p.Thr546Arg) c.1076C>G (p.Thr359Arg) n.2585C>G | |
| 16 | g.13948022C>T | CA7910735 | ERCC4 | c.2564C>T (p.Thr855Met) c.*2120C>T (n.*2120C>T) c.2426C>T (p.Thr809Met) n.1703C>T c.1883C>T (p.Thr628Met) c.1637C>T (p.Thr546Met) c.1076C>T (p.Thr359Met) n.2585C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.13948023G>A | CA7910736 | ERCC4 | c.2565G>A (p.Thr855=) c.*2121G>A (n.*2121G>A) c.2427G>A (p.Thr809=) n.1704G>A c.1884G>A (p.Thr628=) c.1638G>A (p.Thr546=) c.1077G>A (p.Thr359=) n.2586G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.13948023G>C | CA493690061 | ERCC4 | c.2565G>C (p.Thr855=) c.*2121G>C (n.*2121G>C) c.2427G>C (p.Thr809=) n.1704G>C c.1884G>C (p.Thr628=) c.1638G>C (p.Thr546=) c.1077G>C (p.Thr359=) n.2586G>C |