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.13948145A= | CA2209082883 | ERCC4 | c.2687A= (p.Asp896=) c.*2243A= (n.*2243A=) c.2549A= (p.Asp850=) n.1826A= c.2006A= (p.Asp669=) c.1760A= (p.Asp587=) c.1199A= (p.Asp400=) n.2708A= | |
| 16 | g.13948145A>C | CA394824429 | ERCC4 | c.2687A>C (p.Asp896Ala) c.*2243A>C (n.*2243A>C) c.2549A>C (p.Asp850Ala) n.1826A>C c.2006A>C (p.Asp669Ala) c.1760A>C (p.Asp587Ala) c.1199A>C (p.Asp400Ala) n.2708A>C | |
| 16 | g.13948145A>G | CA7910767 | ERCC4 | c.2687A>G (p.Asp896Gly) c.*2243A>G (n.*2243A>G) c.2549A>G (p.Asp850Gly) n.1826A>G c.2006A>G (p.Asp669Gly) c.1760A>G (p.Asp587Gly) c.1199A>G (p.Asp400Gly) n.2708A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.13948145A>T | CA394824430 | ERCC4 | c.2687A>T (p.Asp896Val) c.*2243A>T (n.*2243A>T) c.2549A>T (p.Asp850Val) n.1826A>T c.2006A>T (p.Asp669Val) c.1760A>T (p.Asp587Val) c.1199A>T (p.Asp400Val) n.2708A>T | |
| 16 | g.13948145_13948148delinsACTT | CA2209082884 | ERCC4 | c.2687_2690delinsACTT (p.Asp896=) c.*2243_*2246delinsACTT (n.*2243_*2246delinsACTT) c.2549_2552delinsACTT (p.Asp850=) n.1826_1829delinsACTT c.2006_2009delinsACTT (p.Asp669=) c.1760_1763delinsACTT (p.Asp587=) c.1199_1202delinsACTT (p.Asp400=) n.2708_2711delinsACTT | |
| 16 | g.13948146C>A | CA394824431 | ERCC4 | c.2688C>A (p.Asp896Glu) c.*2244C>A (n.*2244C>A) c.2550C>A (p.Asp850Glu) n.1827C>A c.2007C>A (p.Asp669Glu) c.1761C>A (p.Asp587Glu) c.1200C>A (p.Asp400Glu) n.2709C>A | dbSNP |
| 16 | g.13948146C= | CA2209082885 | ERCC4 | c.2688C= (p.Asp896=) c.*2244C= (n.*2244C=) c.2550C= (p.Asp850=) n.1827C= c.2007C= (p.Asp669=) c.1761C= (p.Asp587=) c.1200C= (p.Asp400=) n.2709C= | |
| 16 | g.13948146C>G | CA394824432 | ERCC4 | c.2688C>G (p.Asp896Glu) c.*2244C>G (n.*2244C>G) c.2550C>G (p.Asp850Glu) n.1827C>G c.2007C>G (p.Asp669Glu) c.1761C>G (p.Asp587Glu) c.1200C>G (p.Asp400Glu) n.2709C>G | |
| 16 | g.13948146C>T | CA493690196 | ERCC4 | c.2688C>T (p.Asp896=) c.*2244C>T (n.*2244C>T) c.2550C>T (p.Asp850=) n.1827C>T c.2007C>T (p.Asp669=) c.1761C>T (p.Asp587=) c.1200C>T (p.Asp400=) n.2709C>T | dbSNP gnomAD v4 |
| 16 | g.13948149_13948151del | CA891863034 | ERCC4 | c.2691_2693del (p.Phe897del) c.*2247_*2249del (n.*2247_*2249del) c.2553_2555del (p.Phe851del) n.1830_1832del c.2010_2012del (p.Phe670del) c.1764_1766del (p.Phe588del) c.1203_1205del (p.Phe401del) n.2712_2714del | ClinVar dbSNP |
| 16 | g.13948147T>A | CA394824433 | ERCC4 | c.2689T>A (p.Phe897Ile) c.*2245T>A (n.*2245T>A) c.2551T>A (p.Phe851Ile) n.1828T>A c.2008T>A (p.Phe670Ile) c.1762T>A (p.Phe588Ile) c.1201T>A (p.Phe401Ile) n.2710T>A | |
| 16 | g.13948147T>C | CA394824434 | ERCC4 | c.2689T>C (p.Phe897Leu) c.*2245T>C (n.*2245T>C) c.2551T>C (p.Phe851Leu) n.1828T>C c.2008T>C (p.Phe670Leu) c.1762T>C (p.Phe588Leu) c.1201T>C (p.Phe401Leu) n.2710T>C | |
| 16 | g.13948147T>G | CA7910768 | ERCC4 | c.2689T>G (p.Phe897Val) c.*2245T>G (n.*2245T>G) c.2551T>G (p.Phe851Val) n.1828T>G c.2008T>G (p.Phe670Val) c.1762T>G (p.Phe588Val) c.1201T>G (p.Phe401Val) n.2710T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.13948147T= | CA2209082886 | ERCC4 | c.2689T= (p.Phe897=) c.*2245T= (n.*2245T=) c.2551T= (p.Phe851=) n.1828T= c.2008T= (p.Phe670=) c.1762T= (p.Phe588=) c.1201T= (p.Phe401=) n.2710T= | |
| 16 | g.13948148T>A | CA394824437 | ERCC4 | c.2690T>A (p.Phe897Tyr) c.*2246T>A (n.*2246T>A) c.2552T>A (p.Phe851Tyr) n.1829T>A c.2009T>A (p.Phe670Tyr) c.1763T>A (p.Phe588Tyr) c.1202T>A (p.Phe401Tyr) n.2711T>A | |
| 16 | g.13948148T>C | CA394824435 | ERCC4 | c.2690T>C (p.Phe897Ser) c.*2246T>C (n.*2246T>C) c.2552T>C (p.Phe851Ser) n.1829T>C c.2009T>C (p.Phe670Ser) c.1763T>C (p.Phe588Ser) c.1202T>C (p.Phe401Ser) n.2711T>C | |
| 16 | g.13948148T>G | CA394824436 | ERCC4 | c.2690T>G (p.Phe897Cys) c.*2246T>G (n.*2246T>G) c.2552T>G (p.Phe851Cys) n.1829T>G c.2009T>G (p.Phe670Cys) c.1763T>G (p.Phe588Cys) c.1202T>G (p.Phe401Cys) n.2711T>G | |
| 16 | g.13948149C>A | CA394824438 | ERCC4 | c.2691C>A (p.Phe897Leu) c.*2247C>A (n.*2247C>A) c.2553C>A (p.Phe851Leu) n.1830C>A c.2010C>A (p.Phe670Leu) c.1764C>A (p.Phe588Leu) c.1203C>A (p.Phe401Leu) n.2712C>A | |
| 16 | g.13948149C>G | CA394824439 | ERCC4 | c.2691C>G (p.Phe897Leu) c.*2247C>G (n.*2247C>G) c.2553C>G (p.Phe851Leu) n.1830C>G c.2010C>G (p.Phe670Leu) c.1764C>G (p.Phe588Leu) c.1203C>G (p.Phe401Leu) n.2712C>G | |
| 16 | g.13948149C>T | CA493690197 | ERCC4 | c.2691C>T (p.Phe897=) c.*2247C>T (n.*2247C>T) c.2553C>T (p.Phe851=) n.1830C>T c.2010C>T (p.Phe670=) c.1764C>T (p.Phe588=) c.1203C>T (p.Phe401=) n.2712C>T | |
| 16 | g.13948150T>A | CA394824440 | ERCC4 | c.2692T>A (p.Leu898Met) c.*2248T>A (n.*2248T>A) c.2554T>A (p.Leu852Met) n.1831T>A c.2011T>A (p.Leu671Met) c.1765T>A (p.Leu589Met) c.1204T>A (p.Leu402Met) n.2713T>A | |
| 16 | g.13948150T>C | CA493690198 | ERCC4 | c.2692T>C (p.Leu898=) c.*2248T>C (n.*2248T>C) c.2554T>C (p.Leu852=) n.1831T>C c.2011T>C (p.Leu671=) c.1765T>C (p.Leu589=) c.1204T>C (p.Leu402=) n.2713T>C | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.13948150T>G | CA394824441 | ERCC4 | c.2692T>G (p.Leu898Val) c.*2248T>G (n.*2248T>G) c.2554T>G (p.Leu852Val) n.1831T>G c.2011T>G (p.Leu671Val) c.1765T>G (p.Leu589Val) c.1204T>G (p.Leu402Val) n.2713T>G | |
| 16 | g.13948150T= | CA2209082887 | ERCC4 | c.2692T= (p.Leu898=) c.*2248T= (n.*2248T=) c.2554T= (p.Leu852=) n.1831T= c.2011T= (p.Leu671=) c.1765T= (p.Leu589=) c.1204T= (p.Leu402=) n.2713T= | |
| 16 | g.13948151T>A | CA394824442 | ERCC4 | c.2693T>A (p.Leu898Ter) c.*2249T>A (n.*2249T>A) c.2555T>A (p.Leu852Ter) n.1832T>A c.2012T>A (p.Leu671Ter) c.1766T>A (p.Leu589Ter) c.1205T>A (p.Leu402Ter) n.2714T>A | |
| 16 | g.13948151T>C | CA394824443 | ERCC4 | c.2693T>C (p.Leu898Ser) c.*2249T>C (n.*2249T>C) c.2555T>C (p.Leu852Ser) n.1832T>C c.2012T>C (p.Leu671Ser) c.1766T>C (p.Leu589Ser) c.1205T>C (p.Leu402Ser) n.2714T>C | |
| 16 | g.13948151T>G | CA394824444 | ERCC4 | c.2693T>G (p.Leu898Trp) c.*2249T>G (n.*2249T>G) c.2555T>G (p.Leu852Trp) n.1832T>G c.2012T>G (p.Leu671Trp) c.1766T>G (p.Leu589Trp) c.1205T>G (p.Leu402Trp) n.2714T>G | |
| 16 | g.13948152G>A | CA493690199 | ERCC4 | c.2694G>A (p.Leu898=) c.*2250G>A (n.*2250G>A) c.2556G>A (p.Leu852=) n.1833G>A c.2013G>A (p.Leu671=) c.1767G>A (p.Leu589=) c.1206G>A (p.Leu402=) n.2715G>A | dbSNP |
| 16 | g.13948152G>C | CA278485764 | ERCC4 | c.2694G>C (p.Leu898Phe) c.*2250G>C (n.*2250G>C) c.2556G>C (p.Leu852Phe) n.1833G>C c.2013G>C (p.Leu671Phe) c.1767G>C (p.Leu589Phe) c.1206G>C (p.Leu402Phe) n.2715G>C | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.13948152G= | CA2209082888 | ERCC4 | c.2694G= (p.Leu898=) c.*2250G= (n.*2250G=) c.2556G= (p.Leu852=) n.1833G= c.2013G= (p.Leu671=) c.1767G= (p.Leu589=) c.1206G= (p.Leu402=) n.2715G= | |
| 16 | g.13948152G>T | CA394824445 | ERCC4 | c.2694G>T (p.Leu898Phe) c.*2250G>T (n.*2250G>T) c.2556G>T (p.Leu852Phe) n.1833G>T c.2013G>T (p.Leu671Phe) c.1767G>T (p.Leu589Phe) c.1206G>T (p.Leu402Phe) n.2715G>T | gnomAD v4 |
| 16 | g.13948153T>A | CA394824446 | ERCC4 | c.2695T>A (p.Leu899Ile) c.*2251T>A (n.*2251T>A) c.2557T>A (p.Leu853Ile) n.1834T>A c.2014T>A (p.Leu672Ile) c.1768T>A (p.Leu590Ile) c.1207T>A (p.Leu403Ile) n.2716T>A | |
| 16 | g.13948153T>C | CA493690200 | ERCC4 | c.2695T>C (p.Leu899=) c.*2251T>C (n.*2251T>C) c.2557T>C (p.Leu853=) n.1834T>C c.2014T>C (p.Leu672=) c.1768T>C (p.Leu590=) c.1207T>C (p.Leu403=) n.2716T>C | |
| 16 | g.13948153T>G | CA394824447 | ERCC4 | c.2695T>G (p.Leu899Val) c.*2251T>G (n.*2251T>G) c.2557T>G (p.Leu853Val) n.1834T>G c.2014T>G (p.Leu672Val) c.1768T>G (p.Leu590Val) c.1207T>G (p.Leu403Val) n.2716T>G | |
| 16 | g.13948154T>A | CA394824448 | ERCC4 | c.2696T>A (p.Leu899Ter) c.*2252T>A (n.*2252T>A) c.2558T>A (p.Leu853Ter) n.1835T>A c.2015T>A (p.Leu672Ter) c.1769T>A (p.Leu590Ter) c.1208T>A (p.Leu403Ter) n.2717T>A | |
| 16 | g.13948154T>C | CA394824450 | ERCC4 | c.2696T>C (p.Leu899Ser) c.*2252T>C (n.*2252T>C) c.2558T>C (p.Leu853Ser) n.1835T>C c.2015T>C (p.Leu672Ser) c.1769T>C (p.Leu590Ser) c.1208T>C (p.Leu403Ser) n.2717T>C | |
| 16 | g.13948154T>G | CA394824449 | ERCC4 | c.2696T>G (p.Leu899Ter) c.*2252T>G (n.*2252T>G) c.2558T>G (p.Leu853Ter) n.1835T>G c.2015T>G (p.Leu672Ter) c.1769T>G (p.Leu590Ter) c.1208T>G (p.Leu403Ter) n.2717T>G | |
| 16 | g.13948155A>C | CA394824451 | ERCC4 | c.2697A>C (p.Leu899Phe) c.*2253A>C (n.*2253A>C) c.2559A>C (p.Leu853Phe) n.1836A>C c.2016A>C (p.Leu672Phe) c.1770A>C (p.Leu590Phe) c.1209A>C (p.Leu403Phe) n.2718A>C | |
| 16 | g.13948155A>G | CA493690201 | ERCC4 | c.2697A>G (p.Leu899=) c.*2253A>G (n.*2253A>G) c.2559A>G (p.Leu853=) n.1836A>G c.2016A>G (p.Leu672=) c.1770A>G (p.Leu590=) c.1209A>G (p.Leu403=) n.2718A>G | |
| 16 | g.13948155A>T | CA394824452 | ERCC4 | c.2697A>T (p.Leu899Phe) c.*2253A>T (n.*2253A>T) c.2559A>T (p.Leu853Phe) n.1836A>T c.2016A>T (p.Leu672Phe) c.1770A>T (p.Leu590Phe) c.1209A>T (p.Leu403Phe) n.2718A>T | |
| 16 | g.13948159dup | CA2575929544 | ERCC4 | c.2701dup (p.Met901AsnfsTer17) c.*2257dup (n.*2257dup) c.2563dup (p.Met855AsnfsTer17) n.1840dup c.2020dup (p.Met674AsnfsTer17) c.1774dup (p.Met592AsnfsTer17) c.1213dup (p.Met405AsnfsTer17) n.2722dup | |
| 16 | g.13948159del | CA2631831405 | ERCC4 | c.2701del (p.Met901CysfsTer4) c.*2257del (n.*2257del) c.2563del (p.Met855CysfsTer4) n.1840del c.2020del (p.Met674CysfsTer4) c.1774del (p.Met592CysfsTer4) c.1213del (p.Met405CysfsTer4) n.2722del | gnomAD v4 |
| 16 | g.13948156A>C | CA394824453 | ERCC4 | c.2698A>C (p.Lys900Gln) c.*2254A>C (n.*2254A>C) c.2560A>C (p.Lys854Gln) n.1837A>C c.2017A>C (p.Lys673Gln) c.1771A>C (p.Lys591Gln) c.1210A>C (p.Lys404Gln) n.2719A>C | |
| 16 | g.13948156A>G | CA394824454 | ERCC4 | c.2698A>G (p.Lys900Glu) c.*2254A>G (n.*2254A>G) c.2560A>G (p.Lys854Glu) n.1837A>G c.2017A>G (p.Lys673Glu) c.1771A>G (p.Lys591Glu) c.1210A>G (p.Lys404Glu) n.2719A>G | |
| 16 | g.13948156A>T | CA394824455 | ERCC4 | c.2698A>T (p.Lys900Ter) c.*2254A>T (n.*2254A>T) c.2560A>T (p.Lys854Ter) n.1837A>T c.2017A>T (p.Lys673Ter) c.1771A>T (p.Lys591Ter) c.1210A>T (p.Lys404Ter) n.2719A>T | |
| 16 | g.13948157A= | CA2209082889 | ERCC4 | c.2699A= (p.Lys900=) c.*2255A= (n.*2255A=) c.2561A= (p.Lys854=) n.1838A= c.2018A= (p.Lys673=) c.1772A= (p.Lys591=) c.1211A= (p.Lys404=) n.2720A= | |
| 16 | g.13948157A>C | CA394824456 | ERCC4 | c.2699A>C (p.Lys900Thr) c.*2255A>C (n.*2255A>C) c.2561A>C (p.Lys854Thr) n.1838A>C c.2018A>C (p.Lys673Thr) c.1772A>C (p.Lys591Thr) c.1211A>C (p.Lys404Thr) n.2720A>C | |
| 16 | g.13948157A>G | CA394824457 | ERCC4 | c.2699A>G (p.Lys900Arg) c.*2255A>G (n.*2255A>G) c.2561A>G (p.Lys854Arg) n.1838A>G c.2018A>G (p.Lys673Arg) c.1772A>G (p.Lys591Arg) c.1211A>G (p.Lys404Arg) n.2720A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.13948157A>T | CA394824458 | ERCC4 | c.2699A>T (p.Lys900Ile) c.*2255A>T (n.*2255A>T) c.2561A>T (p.Lys854Ile) n.1838A>T c.2018A>T (p.Lys673Ile) c.1772A>T (p.Lys591Ile) c.1211A>T (p.Lys404Ile) n.2720A>T | |
| 16 | g.13948158A>C | CA394824459 | ERCC4 | c.2700A>C (p.Lys900Asn) c.*2256A>C (n.*2256A>C) c.2562A>C (p.Lys854Asn) n.1839A>C c.2019A>C (p.Lys673Asn) c.1773A>C (p.Lys591Asn) c.1212A>C (p.Lys404Asn) n.2721A>C |