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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.
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.13947937A>C | CA394823118 | ERCC4 | c.2479A>C (p.Ser827Arg) c.*2035A>C (n.*2035A>C) c.2341A>C (p.Ser781Arg) n.1618A>C c.654A>C (n.654A>C) c.1798A>C (p.Ser600Arg) c.1552A>C (p.Ser518Arg) c.991A>C (p.Ser331Arg) n.2500A>C | |
| 16 | g.13947937A>G | CA394823120 | ERCC4 | c.2479A>G (p.Ser827Gly) c.*2035A>G (n.*2035A>G) c.2341A>G (p.Ser781Gly) n.1618A>G c.654A>G (n.654A>G) c.1798A>G (p.Ser600Gly) c.1552A>G (p.Ser518Gly) c.991A>G (p.Ser331Gly) n.2500A>G | |
| 16 | g.13947937A>T | CA394823121 | ERCC4 | c.2479A>T (p.Ser827Cys) c.*2035A>T (n.*2035A>T) c.2341A>T (p.Ser781Cys) n.1618A>T c.654A>T (n.654A>T) c.1798A>T (p.Ser600Cys) c.1552A>T (p.Ser518Cys) c.991A>T (p.Ser331Cys) n.2500A>T | |
| 16 | g.13947938G>A | CA394823124 | ERCC4 | c.2480G>A (p.Ser827Asn) c.*2036G>A (n.*2036G>A) c.2342G>A (p.Ser781Asn) n.1619G>A c.655G>A (n.655G>A) c.1799G>A (p.Ser600Asn) c.1553G>A (p.Ser518Asn) c.992G>A (p.Ser331Asn) n.2501G>A | dbSNP |
| 16 | g.13947938G>C | CA394823123 | ERCC4 | c.2480G>C (p.Ser827Thr) c.*2036G>C (n.*2036G>C) c.2342G>C (p.Ser781Thr) n.1619G>C c.655G>C (n.655G>C) c.1799G>C (p.Ser600Thr) c.1553G>C (p.Ser518Thr) c.992G>C (p.Ser331Thr) n.2501G>C | |
| 16 | g.13947938G>T | CA394823122 | ERCC4 | c.2480G>T (p.Ser827Ile) c.*2036G>T (n.*2036G>T) c.2342G>T (p.Ser781Ile) n.1619G>T c.655G>T (n.655G>T) c.1799G>T (p.Ser600Ile) c.1553G>T (p.Ser518Ile) c.992G>T (p.Ser331Ile) n.2501G>T | |
| 16 | g.13947939C>A | CA394823125 | ERCC4 | c.2481C>A (p.Ser827Arg) c.*2037C>A (n.*2037C>A) c.2343C>A (p.Ser781Arg) n.1620C>A c.656C>A (n.656C>A) c.1800C>A (p.Ser600Arg) c.1554C>A (p.Ser518Arg) c.993C>A (p.Ser331Arg) n.2502C>A | dbSNP |
| 16 | g.13947939C>G | CA394823126 | ERCC4 | c.2481C>G (p.Ser827Arg) c.*2037C>G (n.*2037C>G) c.2343C>G (p.Ser781Arg) n.1620C>G c.656C>G (n.656C>G) c.1800C>G (p.Ser600Arg) c.1554C>G (p.Ser518Arg) c.993C>G (p.Ser331Arg) n.2502C>G | |
| 16 | g.13947939C>T | CA493690003 | ERCC4 | c.2481C>T (p.Ser827=) c.*2037C>T (n.*2037C>T) c.2343C>T (p.Ser781=) n.1620C>T c.656C>T (n.656C>T) c.1800C>T (p.Ser600=) c.1554C>T (p.Ser518=) c.993C>T (p.Ser331=) n.2502C>T | dbSNP |
| 16 | g.13947940A>C | CA394823127 | ERCC4 | c.2482A>C (p.Asn828His) c.*2038A>C (n.*2038A>C) c.2344A>C (p.Asn782His) n.1621A>C c.657A>C (n.657A>C) c.1801A>C (p.Asn601His) c.1555A>C (p.Asn519His) c.994A>C (p.Asn332His) n.2503A>C | |
| 16 | g.13947940A>G | CA394823128 | ERCC4 | c.2482A>G (p.Asn828Asp) c.*2038A>G (n.*2038A>G) c.2344A>G (p.Asn782Asp) n.1621A>G c.657A>G (n.657A>G) c.1801A>G (p.Asn601Asp) c.1555A>G (p.Asn519Asp) c.994A>G (p.Asn332Asp) n.2503A>G | |
| 16 | g.13947940A>T | CA394823129 | ERCC4 | c.2482A>T (p.Asn828Tyr) c.*2038A>T (n.*2038A>T) c.2344A>T (p.Asn782Tyr) n.1621A>T c.657A>T (n.657A>T) c.1801A>T (p.Asn601Tyr) c.1555A>T (p.Asn519Tyr) c.994A>T (p.Asn332Tyr) n.2503A>T | |
| 16 | g.13947941dup | CA2575929543 | ERCC4 | c.2483dup (p.Asn828LysfsTer2) c.*2039dup (n.*2039dup) c.2345dup (p.Asn782LysfsTer2) n.1622dup c.658dup (n.658dup) c.1802dup (p.Asn601LysfsTer2) c.1556dup (p.Asn519LysfsTer2) c.995dup (p.Asn332LysfsTer2) n.2504dup | |
| 16 | g.13947941A= | CA2209082790 | ERCC4 | c.2483A= (p.Asn828=) c.*2039A= (n.*2039A=) c.2345A= (p.Asn782=) n.1622A= c.658A= (n.658A=) c.1802A= (p.Asn601=) c.1556A= (p.Asn519=) c.995A= (p.Asn332=) n.2504A= | |
| 16 | g.13947941A>C | CA394823130 | ERCC4 | c.2483A>C (p.Asn828Thr) c.*2039A>C (n.*2039A>C) c.2345A>C (p.Asn782Thr) n.1622A>C c.658A>C (n.658A>C) c.1802A>C (p.Asn601Thr) c.1556A>C (p.Asn519Thr) c.995A>C (p.Asn332Thr) n.2504A>C | |
| 16 | g.13947941A>G | CA394823131 | ERCC4 | c.2483A>G (p.Asn828Ser) c.*2039A>G (n.*2039A>G) c.2345A>G (p.Asn782Ser) n.1622A>G c.658A>G (n.658A>G) c.1802A>G (p.Asn601Ser) c.1556A>G (p.Asn519Ser) c.995A>G (p.Asn332Ser) n.2504A>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.13947941A>T | CA394823132 | ERCC4 | c.2483A>T (p.Asn828Ile) c.*2039A>T (n.*2039A>T) c.2345A>T (p.Asn782Ile) n.1622A>T c.658A>T (n.658A>T) c.1802A>T (p.Asn601Ile) c.1556A>T (p.Asn519Ile) c.995A>T (p.Asn332Ile) n.2504A>T | dbSNP |
| 16 | g.13947942T>A | CA394823133 | ERCC4 | c.2484T>A (p.Asn828Lys) c.*2040T>A (n.*2040T>A) c.2346T>A (p.Asn782Lys) n.1623T>A c.659T>A (n.659T>A) c.1803T>A (p.Asn601Lys) c.1557T>A (p.Asn519Lys) c.996T>A (p.Asn332Lys) n.2505T>A | |
| 16 | g.13947942T>C | CA493690004 | ERCC4 | c.2484T>C (p.Asn828=) c.*2040T>C (n.*2040T>C) c.2346T>C (p.Asn782=) n.1623T>C c.659T>C (n.659T>C) c.1803T>C (p.Asn601=) c.1557T>C (p.Asn519=) c.996T>C (p.Asn332=) n.2505T>C | gnomAD v4 |
| 16 | g.13947942T>G | CA394823134 | ERCC4 | c.2484T>G (p.Asn828Lys) c.*2040T>G (n.*2040T>G) c.2346T>G (p.Asn782Lys) n.1623T>G c.659T>G (n.659T>G) c.1803T>G (p.Asn601Lys) c.1557T>G (p.Asn519Lys) c.996T>G (p.Asn332Lys) n.2505T>G | |
| 16 | g.13947943G>A | CA394823135 | ERCC4 | c.2485G>A (p.Asp829Asn) c.*2041G>A (n.*2041G>A) c.2347G>A (p.Asp783Asn) n.1624G>A c.660G>A (n.660G>A) c.1804G>A (p.Asp602Asn) c.1558G>A (p.Asp520Asn) c.997G>A (p.Asp333Asn) n.2506G>A | |
| 16 | g.13947943G>C | CA394823136 | ERCC4 | c.2485G>C (p.Asp829His) c.*2041G>C (n.*2041G>C) c.2347G>C (p.Asp783His) n.1624G>C c.660G>C (n.660G>C) c.1804G>C (p.Asp602His) c.1558G>C (p.Asp520His) c.997G>C (p.Asp333His) n.2506G>C | |
| 16 | g.13947943G>T | CA394823137 | ERCC4 | c.2485G>T (p.Asp829Tyr) c.*2041G>T (n.*2041G>T) c.2347G>T (p.Asp783Tyr) n.1624G>T c.660G>T (n.660G>T) c.1804G>T (p.Asp602Tyr) c.1558G>T (p.Asp520Tyr) c.997G>T (p.Asp333Tyr) n.2506G>T | |
| 16 | g.13947944A= | CA2209082791 | ERCC4 | c.2486A= (p.Asp829=) c.*2042A= (n.*2042A=) c.2348A= (p.Asp783=) n.1625A= c.661A= (n.661A=) c.1805A= (p.Asp602=) c.1559A= (p.Asp520=) c.998A= (p.Asp333=) n.2507A= | |
| 16 | g.13947944A>C | CA394823139 | ERCC4 | c.2486A>C (p.Asp829Ala) c.*2042A>C (n.*2042A>C) c.2348A>C (p.Asp783Ala) n.1625A>C c.661A>C (n.661A>C) c.1805A>C (p.Asp602Ala) c.1559A>C (p.Asp520Ala) c.998A>C (p.Asp333Ala) n.2507A>C | dbSNP |
| 16 | g.13947944A>G | CA7910725 | ERCC4 | c.2486A>G (p.Asp829Gly) c.*2042A>G (n.*2042A>G) c.2348A>G (p.Asp783Gly) n.1625A>G c.661A>G (n.661A>G) c.1805A>G (p.Asp602Gly) c.1559A>G (p.Asp520Gly) c.998A>G (p.Asp333Gly) n.2507A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.13947944A>T | CA394823138 | ERCC4 | c.2486A>T (p.Asp829Val) c.*2042A>T (n.*2042A>T) c.2348A>T (p.Asp783Val) n.1625A>T c.661A>T (n.661A>T) c.1805A>T (p.Asp602Val) c.1559A>T (p.Asp520Val) c.998A>T (p.Asp333Val) n.2507A>T | dbSNP |
| 16 | g.13947945C>A | CA394823140 | ERCC4 | c.2487C>A (p.Asp829Glu) c.*2043C>A (n.*2043C>A) c.2349C>A (p.Asp783Glu) n.1626C>A c.662C>A (n.662C>A) c.1806C>A (p.Asp602Glu) c.1560C>A (p.Asp520Glu) c.999C>A (p.Asp333Glu) n.2508C>A | dbSNP |
| 16 | g.13947945C= | CA2209082792 | ERCC4 | c.2487C= (p.Asp829=) c.*2043C= (n.*2043C=) c.2349C= (p.Asp783=) n.1626C= c.662C= (n.662C=) c.1806C= (p.Asp602=) c.1560C= (p.Asp520=) c.999C= (p.Asp333=) n.2508C= | |
| 16 | g.13947945C>G | CA394823141 | ERCC4 | c.2487C>G (p.Asp829Glu) c.*2043C>G (n.*2043C>G) c.2349C>G (p.Asp783Glu) n.1626C>G c.662C>G (n.662C>G) c.1806C>G (p.Asp602Glu) c.1560C>G (p.Asp520Glu) c.999C>G (p.Asp333Glu) n.2508C>G | dbSNP |
| 16 | g.13947945C>T | CA493690005 | ERCC4 | c.2487C>T (p.Asp829=) c.*2043C>T (n.*2043C>T) c.2349C>T (p.Asp783=) n.1626C>T c.662C>T (n.662C>T) c.1806C>T (p.Asp602=) c.1560C>T (p.Asp520=) c.999C>T (p.Asp333=) n.2508C>T | dbSNP gnomAD v4 |
| 16 | g.13947946A>C | CA394823142 | ERCC4 | c.2488A>C (p.Ile830Leu) c.*2044A>C (n.*2044A>C) c.2350A>C (p.Ile784Leu) n.1627A>C c.663A>C (n.663A>C) c.1807A>C (p.Ile603Leu) c.1561A>C (p.Ile521Leu) c.1000A>C (p.Ile334Leu) n.2509A>C | |
| 16 | g.13947946A>G | CA394823143 | ERCC4 | c.2488A>G (p.Ile830Val) c.*2044A>G (n.*2044A>G) c.2350A>G (p.Ile784Val) n.1627A>G c.663A>G (n.663A>G) c.1807A>G (p.Ile603Val) c.1561A>G (p.Ile521Val) c.1000A>G (p.Ile334Val) n.2509A>G | |
| 16 | g.13947946A>T | CA394823144 | ERCC4 | c.2488A>T (p.Ile830Phe) c.*2044A>T (n.*2044A>T) c.2350A>T (p.Ile784Phe) n.1627A>T c.663A>T (n.663A>T) c.1807A>T (p.Ile603Phe) c.1561A>T (p.Ile521Phe) c.1000A>T (p.Ile334Phe) n.2509A>T | dbSNP |
| 16 | g.13947947T>A | CA394823145 | ERCC4 | c.2489T>A (p.Ile830Asn) c.*2045T>A (n.*2045T>A) c.2351T>A (p.Ile784Asn) n.1628T>A c.664T>A (n.664T>A) c.1808T>A (p.Ile603Asn) c.1562T>A (p.Ile521Asn) c.1001T>A (p.Ile334Asn) n.2510T>A | |
| 16 | g.13947947T>C | CA394823146 | ERCC4 | c.2489T>C (p.Ile830Thr) c.*2045T>C (n.*2045T>C) c.2351T>C (p.Ile784Thr) n.1628T>C c.664T>C (n.664T>C) c.1808T>C (p.Ile603Thr) c.1562T>C (p.Ile521Thr) c.1001T>C (p.Ile334Thr) n.2510T>C | |
| 16 | g.13947947T>G | CA394823147 | ERCC4 | c.2489T>G (p.Ile830Ser) c.*2045T>G (n.*2045T>G) c.2351T>G (p.Ile784Ser) n.1628T>G c.664T>G (n.664T>G) c.1808T>G (p.Ile603Ser) c.1562T>G (p.Ile521Ser) c.1001T>G (p.Ile334Ser) n.2510T>G | |
| 16 | g.13947948T>A | CA493690006 | ERCC4 | c.2490T>A (p.Ile830=) c.*2046T>A (n.*2046T>A) c.2352T>A (p.Ile784=) n.1629T>A c.665T>A (n.665T>A) c.1809T>A (p.Ile603=) c.1563T>A (p.Ile521=) c.1002T>A (p.Ile334=) n.2511T>A | |
| 16 | g.13947948T>C | CA493690007 | ERCC4 | c.2490T>C (p.Ile830=) c.*2046T>C (n.*2046T>C) c.2352T>C (p.Ile784=) n.1629T>C c.665T>C (n.665T>C) c.1809T>C (p.Ile603=) c.1563T>C (p.Ile521=) c.1002T>C (p.Ile334=) n.2511T>C | |
| 16 | g.13947948T>G | CA394823148 | ERCC4 | c.2490T>G (p.Ile830Met) c.*2046T>G (n.*2046T>G) c.2352T>G (p.Ile784Met) n.1629T>G c.665T>G (n.665T>G) c.1809T>G (p.Ile603Met) c.1563T>G (p.Ile521Met) c.1002T>G (p.Ile334Met) n.2511T>G | gnomAD v4 |
| 16 | g.13947949A>C | CA394823149 | ERCC4 | c.2491A>C (p.Ser831Arg) c.*2047A>C (n.*2047A>C) c.2353A>C (p.Ser785Arg) n.1630A>C c.666A>C (n.666A>C) c.1810A>C (p.Ser604Arg) c.1564A>C (p.Ser522Arg) c.1003A>C (p.Ser335Arg) n.2512A>C | |
| 16 | g.13947949A>G | CA394823150 | ERCC4 | c.2491A>G (p.Ser831Gly) c.*2047A>G (n.*2047A>G) c.2353A>G (p.Ser785Gly) n.1630A>G c.666A>G (n.666A>G) c.1810A>G (p.Ser604Gly) c.1564A>G (p.Ser522Gly) c.1003A>G (p.Ser335Gly) n.2512A>G | |
| 16 | g.13947949A>T | CA394823151 | ERCC4 | c.2491A>T (p.Ser831Cys) c.*2047A>T (n.*2047A>T) c.2353A>T (p.Ser785Cys) n.1630A>T c.666A>T (n.666A>T) c.1810A>T (p.Ser604Cys) c.1564A>T (p.Ser522Cys) c.1003A>T (p.Ser335Cys) n.2512A>T | |
| 16 | g.13947950G>A | CA394823154 | ERCC4 | c.2492G>A (p.Ser831Asn) c.*2048G>A (n.*2048G>A) c.2354G>A (p.Ser785Asn) n.1631G>A c.667G>A (n.667G>A) c.1811G>A (p.Ser604Asn) c.1565G>A (p.Ser522Asn) c.1004G>A (p.Ser335Asn) n.2513G>A | |
| 16 | g.13947950G>C | CA394823152 | ERCC4 | c.2492G>C (p.Ser831Thr) c.*2048G>C (n.*2048G>C) c.2354G>C (p.Ser785Thr) n.1631G>C c.667G>C (n.667G>C) c.1811G>C (p.Ser604Thr) c.1565G>C (p.Ser522Thr) c.1004G>C (p.Ser335Thr) n.2513G>C | |
| 16 | g.13947950G>T | CA394823153 | ERCC4 | c.2492G>T (p.Ser831Ile) c.*2048G>T (n.*2048G>T) c.2354G>T (p.Ser785Ile) n.1631G>T c.667G>T (n.667G>T) c.1811G>T (p.Ser604Ile) c.1565G>T (p.Ser522Ile) c.1004G>T (p.Ser335Ile) n.2513G>T | dbSNP |
| 16 | g.13947951T>A | CA394823155 | ERCC4 | c.2493T>A (p.Ser831Arg) c.*2049T>A (n.*2049T>A) c.2355T>A (p.Ser785Arg) n.1632T>A c.668T>A (n.668T>A) c.1812T>A (p.Ser604Arg) c.1566T>A (p.Ser522Arg) c.1005T>A (p.Ser335Arg) n.2514T>A | |
| 16 | g.13947951T>C | CA493690008 | ERCC4 | c.2493T>C (p.Ser831=) c.*2049T>C (n.*2049T>C) c.2355T>C (p.Ser785=) n.1632T>C c.668T>C (n.668T>C) c.1812T>C (p.Ser604=) c.1566T>C (p.Ser522=) c.1005T>C (p.Ser335=) n.2514T>C | |
| 16 | g.13947951T>G | CA394823156 | ERCC4 | c.2493T>G (p.Ser831Arg) c.*2049T>G (n.*2049T>G) c.2355T>G (p.Ser785Arg) n.1632T>G c.668T>G (n.668T>G) c.1812T>G (p.Ser604Arg) c.1566T>G (p.Ser522Arg) c.1005T>G (p.Ser335Arg) n.2514T>G | |
| 16 | g.13947952T>A | CA394823157 | ERCC4 | c.2494T>A (p.Ser832Thr) c.*2050T>A (n.*2050T>A) c.2356T>A (p.Ser786Thr) n.1633T>A c.669T>A (n.669T>A) c.1813T>A (p.Ser605Thr) c.1567T>A (p.Ser523Thr) c.1006T>A (p.Ser336Thr) n.2515T>A |