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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.13948049A>C | CA394823896 | ERCC4 | c.2591A>C (p.Gln864Pro) c.*2147A>C (n.*2147A>C) c.2453A>C (p.Gln818Pro) n.1730A>C c.1910A>C (p.Gln637Pro) c.1664A>C (p.Gln555Pro) c.1103A>C (p.Gln368Pro) n.2612A>C | |
| 16 | g.13948049A>G | CA394823897 | ERCC4 | c.2591A>G (p.Gln864Arg) c.*2147A>G (n.*2147A>G) c.2453A>G (p.Gln818Arg) n.1730A>G c.1910A>G (p.Gln637Arg) c.1664A>G (p.Gln555Arg) c.1103A>G (p.Gln368Arg) n.2612A>G | gnomAD v4 |
| 16 | g.13948049A>T | CA394823900 | ERCC4 | c.2591A>T (p.Gln864Leu) c.*2147A>T (n.*2147A>T) c.2453A>T (p.Gln818Leu) n.1730A>T c.1910A>T (p.Gln637Leu) c.1664A>T (p.Gln555Leu) c.1103A>T (p.Gln368Leu) n.2612A>T | |
| 16 | g.13948050A>C | CA394823903 | ERCC4 | c.2592A>C (p.Gln864His) c.*2148A>C (n.*2148A>C) c.2454A>C (p.Gln818His) n.1731A>C c.1911A>C (p.Gln637His) c.1665A>C (p.Gln555His) c.1104A>C (p.Gln368His) n.2613A>C | ClinVar |
| 16 | g.13948050A>G | CA493690074 | ERCC4 | c.2592A>G (p.Gln864=) c.*2148A>G (n.*2148A>G) c.2454A>G (p.Gln818=) n.1731A>G c.1911A>G (p.Gln637=) c.1665A>G (p.Gln555=) c.1104A>G (p.Gln368=) n.2613A>G | gnomAD v4 |
| 16 | g.13948050A>T | CA394823905 | ERCC4 | c.2592A>T (p.Gln864His) c.*2148A>T (n.*2148A>T) c.2454A>T (p.Gln818His) n.1731A>T c.1911A>T (p.Gln637His) c.1665A>T (p.Gln555His) c.1104A>T (p.Gln368His) n.2613A>T | |
| 16 | g.13948051A>C | CA394823908 | ERCC4 | c.2593A>C (p.Ser865Arg) c.*2149A>C (n.*2149A>C) c.2455A>C (p.Ser819Arg) n.1732A>C c.1912A>C (p.Ser638Arg) c.1666A>C (p.Ser556Arg) c.1105A>C (p.Ser369Arg) n.2614A>C | |
| 16 | g.13948051A>G | CA394823910 | ERCC4 | c.2593A>G (p.Ser865Gly) c.*2149A>G (n.*2149A>G) c.2455A>G (p.Ser819Gly) n.1732A>G c.1912A>G (p.Ser638Gly) c.1666A>G (p.Ser556Gly) c.1105A>G (p.Ser369Gly) n.2614A>G | gnomAD v4 |
| 16 | g.13948051A>T | CA394823912 | ERCC4 | c.2593A>T (p.Ser865Cys) c.*2149A>T (n.*2149A>T) c.2455A>T (p.Ser819Cys) n.1732A>T c.1912A>T (p.Ser638Cys) c.1666A>T (p.Ser556Cys) c.1105A>T (p.Ser369Cys) n.2614A>T | |
| 16 | g.13948052G>A | CA394823917 | ERCC4 | c.2594G>A (p.Ser865Asn) c.*2150G>A (n.*2150G>A) c.2456G>A (p.Ser819Asn) n.1733G>A c.1913G>A (p.Ser638Asn) c.1667G>A (p.Ser556Asn) c.1106G>A (p.Ser369Asn) n.2615G>A | dbSNP |
| 16 | g.13948052G>C | CA394823920 | ERCC4 | c.2594G>C (p.Ser865Thr) c.*2150G>C (n.*2150G>C) c.2456G>C (p.Ser819Thr) n.1733G>C c.1913G>C (p.Ser638Thr) c.1667G>C (p.Ser556Thr) c.1106G>C (p.Ser369Thr) n.2615G>C | |
| 16 | g.13948052G>T | CA394823915 | ERCC4 | c.2594G>T (p.Ser865Ile) c.*2150G>T (n.*2150G>T) c.2456G>T (p.Ser819Ile) n.1733G>T c.1913G>T (p.Ser638Ile) c.1667G>T (p.Ser556Ile) c.1106G>T (p.Ser369Ile) n.2615G>T | |
| 16 | g.13948053C>A | CA7910743 | ERCC4 | c.2595C>A (p.Ser865Arg) c.*2151C>A (n.*2151C>A) c.2457C>A (p.Ser819Arg) n.1734C>A c.1914C>A (p.Ser638Arg) c.1668C>A (p.Ser556Arg) c.1107C>A (p.Ser369Arg) n.2616C>A | dbSNP ExAC gnomAD v2 |
| 16 | g.13948053C= | CA2209082844 | ERCC4 | c.2595C= (p.Ser865=) c.*2151C= (n.*2151C=) c.2457C= (p.Ser819=) n.1734C= c.1914C= (p.Ser638=) c.1668C= (p.Ser556=) c.1107C= (p.Ser369=) n.2616C= | |
| 16 | g.13948053C>G | CA394823925 | ERCC4 | c.2595C>G (p.Ser865Arg) c.*2151C>G (n.*2151C>G) c.2457C>G (p.Ser819Arg) n.1734C>G c.1914C>G (p.Ser638Arg) c.1668C>G (p.Ser556Arg) c.1107C>G (p.Ser369Arg) n.2616C>G | |
| 16 | g.13948053C>T | CA493690079 | ERCC4 | c.2595C>T (p.Ser865=) c.*2151C>T (n.*2151C>T) c.2457C>T (p.Ser819=) n.1734C>T c.1914C>T (p.Ser638=) c.1668C>T (p.Ser556=) c.1107C>T (p.Ser369=) n.2616C>T | dbSNP |
| 16 | g.13948054A>C | CA394823928 | ERCC4 | c.2596A>C (p.Lys866Gln) c.*2152A>C (n.*2152A>C) c.2458A>C (p.Lys820Gln) n.1735A>C c.1915A>C (p.Lys639Gln) c.1669A>C (p.Lys557Gln) c.1108A>C (p.Lys370Gln) n.2617A>C | |
| 16 | g.13948054A>G | CA394823930 | ERCC4 | c.2596A>G (p.Lys866Glu) c.*2152A>G (n.*2152A>G) c.2458A>G (p.Lys820Glu) n.1735A>G c.1915A>G (p.Lys639Glu) c.1669A>G (p.Lys557Glu) c.1108A>G (p.Lys370Glu) n.2617A>G | COSMIC |
| 16 | g.13948054A>T | CA394823932 | ERCC4 | c.2596A>T (p.Lys866Ter) c.*2152A>T (n.*2152A>T) c.2458A>T (p.Lys820Ter) n.1735A>T c.1915A>T (p.Lys639Ter) c.1669A>T (p.Lys557Ter) c.1108A>T (p.Lys370Ter) n.2617A>T | |
| 16 | g.13948055A= | CA2209082845 | ERCC4 | c.2597A= (p.Lys866=) c.*2153A= (n.*2153A=) c.2459A= (p.Lys820=) n.1736A= c.1916A= (p.Lys639=) c.1670A= (p.Lys557=) c.1109A= (p.Lys370=) n.2618A= | |
| 16 | g.13948055A>C | CA394823936 | ERCC4 | c.2597A>C (p.Lys866Thr) c.*2153A>C (n.*2153A>C) c.2459A>C (p.Lys820Thr) n.1736A>C c.1916A>C (p.Lys639Thr) c.1670A>C (p.Lys557Thr) c.1109A>C (p.Lys370Thr) n.2618A>C | |
| 16 | g.13948055A>G | CA394823938 | ERCC4 | c.2597A>G (p.Lys866Arg) c.*2153A>G (n.*2153A>G) c.2459A>G (p.Lys820Arg) n.1736A>G c.1916A>G (p.Lys639Arg) c.1670A>G (p.Lys557Arg) c.1109A>G (p.Lys370Arg) n.2618A>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.13948055A>T | CA394823940 | ERCC4 | c.2597A>T (p.Lys866Met) c.*2153A>T (n.*2153A>T) c.2459A>T (p.Lys820Met) n.1736A>T c.1916A>T (p.Lys639Met) c.1670A>T (p.Lys557Met) c.1109A>T (p.Lys370Met) n.2618A>T | |
| 16 | g.13948056G>A | CA493690086 | ERCC4 | c.2598G>A (p.Lys866=) c.*2154G>A (n.*2154G>A) c.2460G>A (p.Lys820=) n.1737G>A c.1917G>A (p.Lys639=) c.1671G>A (p.Lys557=) c.1110G>A (p.Lys370=) n.2619G>A | |
| 16 | g.13948056G>C | CA394823943 | ERCC4 | c.2598G>C (p.Lys866Asn) c.*2154G>C (n.*2154G>C) c.2460G>C (p.Lys820Asn) n.1737G>C c.1917G>C (p.Lys639Asn) c.1671G>C (p.Lys557Asn) c.1110G>C (p.Lys370Asn) n.2619G>C | |
| 16 | g.13948056G>T | CA394823945 | ERCC4 | c.2598G>T (p.Lys866Asn) c.*2154G>T (n.*2154G>T) c.2460G>T (p.Lys820Asn) n.1737G>T c.1917G>T (p.Lys639Asn) c.1671G>T (p.Lys557Asn) c.1110G>T (p.Lys370Asn) n.2619G>T | |
| 16 | g.13948057C>A | CA394823948 | ERCC4 | c.2599C>A (p.Pro867Thr) c.*2155C>A (n.*2155C>A) c.2461C>A (p.Pro821Thr) n.1738C>A c.1918C>A (p.Pro640Thr) c.1672C>A (p.Pro558Thr) c.1111C>A (p.Pro371Thr) n.2620C>A | dbSNP |
| 16 | g.13948057C>G | CA394823950 | ERCC4 | c.2599C>G (p.Pro867Ala) c.*2155C>G (n.*2155C>G) c.2461C>G (p.Pro821Ala) n.1738C>G c.1918C>G (p.Pro640Ala) c.1672C>G (p.Pro558Ala) c.1111C>G (p.Pro371Ala) n.2620C>G | |
| 16 | g.13948057C>T | CA394823952 | ERCC4 | c.2599C>T (p.Pro867Ser) c.*2155C>T (n.*2155C>T) c.2461C>T (p.Pro821Ser) n.1738C>T c.1918C>T (p.Pro640Ser) c.1672C>T (p.Pro558Ser) c.1111C>T (p.Pro371Ser) n.2620C>T | dbSNP |
| 16 | g.13948058C>A | CA394823956 | ERCC4 | c.2600C>A (p.Pro867Gln) c.*2156C>A (n.*2156C>A) c.2462C>A (p.Pro821Gln) n.1739C>A c.1919C>A (p.Pro640Gln) c.1673C>A (p.Pro558Gln) c.1112C>A (p.Pro371Gln) n.2621C>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.13948058C= | CA2209082846 | ERCC4 | c.2600C= (p.Pro867=) c.*2156C= (n.*2156C=) c.2462C= (p.Pro821=) n.1739C= c.1919C= (p.Pro640=) c.1673C= (p.Pro558=) c.1112C= (p.Pro371=) n.2621C= | |
| 16 | g.13948058C>G | CA394823959 | ERCC4 | c.2600C>G (p.Pro867Arg) c.*2156C>G (n.*2156C>G) c.2462C>G (p.Pro821Arg) n.1739C>G c.1919C>G (p.Pro640Arg) c.1673C>G (p.Pro558Arg) c.1112C>G (p.Pro371Arg) n.2621C>G | gnomAD v4 |
| 16 | g.13948058C>T | CA7910744 | ERCC4 | c.2600C>T (p.Pro867Leu) c.*2156C>T (n.*2156C>T) c.2462C>T (p.Pro821Leu) n.1739C>T c.1919C>T (p.Pro640Leu) c.1673C>T (p.Pro558Leu) c.1112C>T (p.Pro371Leu) n.2621C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.13948059A= | CA2209082847 | ERCC4 | c.2601A= (p.Pro867=) c.*2157A= (n.*2157A=) c.2463A= (p.Pro821=) n.1740A= c.1920A= (p.Pro640=) c.1674A= (p.Pro558=) c.1113A= (p.Pro371=) n.2622A= | |
| 16 | g.13948059A>C | CA493690089 | ERCC4 | c.2601A>C (p.Pro867=) c.*2157A>C (n.*2157A>C) c.2463A>C (p.Pro821=) n.1740A>C c.1920A>C (p.Pro640=) c.1674A>C (p.Pro558=) c.1113A>C (p.Pro371=) n.2622A>C | |
| 16 | g.13948059A>G | CA7910745 | ERCC4 | c.2601A>G (p.Pro867=) c.*2157A>G (n.*2157A>G) c.2463A>G (p.Pro821=) n.1740A>G c.1920A>G (p.Pro640=) c.1674A>G (p.Pro558=) c.1113A>G (p.Pro371=) n.2622A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.13948059A>T | CA493690091 | ERCC4 | c.2601A>T (p.Pro867=) c.*2157A>T (n.*2157A>T) c.2463A>T (p.Pro821=) n.1740A>T c.1920A>T (p.Pro640=) c.1674A>T (p.Pro558=) c.1113A>T (p.Pro371=) n.2622A>T | gnomAD v4 |
| 16 | g.13948060C>A | CA394823966 | ERCC4 | c.2602C>A (p.Gln868Lys) c.*2158C>A (n.*2158C>A) c.2464C>A (p.Gln822Lys) n.1741C>A c.1921C>A (p.Gln641Lys) c.1675C>A (p.Gln559Lys) c.1114C>A (p.Gln372Lys) n.2623C>A | |
| 16 | g.13948060C>G | CA394823968 | ERCC4 | c.2602C>G (p.Gln868Glu) c.*2158C>G (n.*2158C>G) c.2464C>G (p.Gln822Glu) n.1741C>G c.1921C>G (p.Gln641Glu) c.1675C>G (p.Gln559Glu) c.1114C>G (p.Gln372Glu) n.2623C>G | gnomAD v4 |
| 16 | g.13948060C>T | CA394823969 | ERCC4 | c.2602C>T (p.Gln868Ter) c.*2158C>T (n.*2158C>T) c.2464C>T (p.Gln822Ter) n.1741C>T c.1921C>T (p.Gln641Ter) c.1675C>T (p.Gln559Ter) c.1114C>T (p.Gln372Ter) n.2623C>T | dbSNP |
| 16 | g.13948061A= | CA2209082848 | ERCC4 | c.2603A= (p.Gln868=) c.*2159A= (n.*2159A=) c.2465A= (p.Gln822=) n.1742A= c.1922A= (p.Gln641=) c.1676A= (p.Gln559=) c.1115A= (p.Gln372=) n.2624A= | |
| 16 | g.13948061A>C | CA394823973 | ERCC4 | c.2603A>C (p.Gln868Pro) c.*2159A>C (n.*2159A>C) c.2465A>C (p.Gln822Pro) n.1742A>C c.1922A>C (p.Gln641Pro) c.1676A>C (p.Gln559Pro) c.1115A>C (p.Gln372Pro) n.2624A>C | |
| 16 | g.13948061A>G | CA394823975 | ERCC4 | c.2603A>G (p.Gln868Arg) c.*2159A>G (n.*2159A>G) c.2465A>G (p.Gln822Arg) n.1742A>G c.1922A>G (p.Gln641Arg) c.1676A>G (p.Gln559Arg) c.1115A>G (p.Gln372Arg) n.2624A>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.13948061A>T | CA394823977 | ERCC4 | c.2603A>T (p.Gln868Leu) c.*2159A>T (n.*2159A>T) c.2465A>T (p.Gln822Leu) n.1742A>T c.1922A>T (p.Gln641Leu) c.1676A>T (p.Gln559Leu) c.1115A>T (p.Gln372Leu) n.2624A>T | |
| 16 | g.13948062G>A | CA7910746 | ERCC4 | c.2604G>A (p.Gln868=) c.*2160G>A (n.*2160G>A) c.2466G>A (p.Gln822=) n.1743G>A c.1923G>A (p.Gln641=) c.1677G>A (p.Gln559=) c.1116G>A (p.Gln372=) n.2625G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.13948062G>C | CA394823981 | ERCC4 | c.2604G>C (p.Gln868His) c.*2160G>C (n.*2160G>C) c.2466G>C (p.Gln822His) n.1743G>C c.1923G>C (p.Gln641His) c.1677G>C (p.Gln559His) c.1116G>C (p.Gln372His) n.2625G>C | |
| 16 | g.13948062G= | CA2209082849 | ERCC4 | c.2604G= (p.Gln868=) c.*2160G= (n.*2160G=) c.2466G= (p.Gln822=) n.1743G= c.1923G= (p.Gln641=) c.1677G= (p.Gln559=) c.1116G= (p.Gln372=) n.2625G= | |
| 16 | g.13948062G>T | CA394823984 | ERCC4 | c.2604G>T (p.Gln868His) c.*2160G>T (n.*2160G>T) c.2466G>T (p.Gln822His) n.1743G>T c.1923G>T (p.Gln641His) c.1677G>T (p.Gln559His) c.1116G>T (p.Gln372His) n.2625G>T | |
| 16 | g.13948063C>A | CA394823990 | ERCC4 | c.2605C>A (p.Pro869Thr) c.*2161C>A (n.*2161C>A) c.2467C>A (p.Pro823Thr) n.1744C>A c.1924C>A (p.Pro642Thr) c.1678C>A (p.Pro560Thr) c.1117C>A (p.Pro373Thr) n.2626C>A | |
| 16 | g.13948063C>G | CA394823993 | ERCC4 | c.2605C>G (p.Pro869Ala) c.*2161C>G (n.*2161C>G) c.2467C>G (p.Pro823Ala) n.1744C>G c.1924C>G (p.Pro642Ala) c.1678C>G (p.Pro560Ala) c.1117C>G (p.Pro373Ala) n.2626C>G | dbSNP |