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 |
|---|---|---|---|---|---|
| 7 | g.2538660_2538694delinsGGCGTGGCCGTCCCGCAGCCACTCAGTGAAGACTT | CA1683198608 | BRAT1 | c.1841_1875delinsAAGTCTTCACTGAGTGGCTGCGGGACGGCCACGCC (p.Gln614=) n.3627_3661delinsAAGTCTTCACTGAGTGGCTGCGGGACGGCCACGCC n.4413_4447delinsAAGTCTTCACTGAGTGGCTGCGGGACGGCCACGCC n.384_418delinsAAGTCTTCACTGAGTGGCTGCGGGACGGCCACGCC n.4547_4581delinsAAGTCTTCACTGAGTGGCTGCGGGACGGCCACGCC c.2021_2055delinsAAGTCTTCACTGAGTGGCTGCGGGACGGCCACGCC (p.Gln674=) c.2105_2139delinsAAGTCTTCACTGAGTGGCTGCGGGACGGCCACGCC (p.Gln702=) c.2102_2136delinsAAGTCTTCACTGAGTGGCTGCGGGACGGCCACGCC (p.Gln701=) c.2075_2109delinsAAGTCTTCACTGAGTGGCTGCGGGACGGCCACGCC (p.Gln692=) c.1925_1959delinsAAGTCTTCACTGAGTGGCTGCGGGACGGCCACGCC (p.Gln642=) c.1580_1614delinsAAGTCTTCACTGAGTGGCTGCGGGACGGCCACGCC (p.Gln527=) c.1752_*22delinsAAGTCTTCACTGAGTGGCTGCGGGACGGCCACGCC (n.[c.1752_*22delinsAAGTCTTCACTGAGTGGCTGCGGGACGGCCACGCC;Ala584=]) c.677_711delinsAAGTCTTCACTGAGTGGCTGCGGGACGGCCACGCC (p.Gln226=) c.1316_1350delinsAAGTCTTCACTGAGTGGCTGCGGGACGGCCACGCC (p.Gln439=) n.2258_2292delinsAAGTCTTCACTGAGTGGCTGCGGGACGGCCACGCC c.2018_2052delinsAAGTCTTCACTGAGTGGCTGCGGGACGGCCACGCC (p.Gln673=) c.1838_1872delinsAAGTCTTCACTGAGTGGCTGCGGGACGGCCACGCC (p.Gln613=) c.1668_*22delinsAAGTCTTCACTGAGTGGCTGCGGGACGGCCACGCC (n.[c.1668_*22delinsAAGTCTTCACTGAGTGGCTGCGGGACGGCCACGCC;Ala556=]) n.2024_2058delinsAAGTCTTCACTGAGTGGCTGCGGGACGGCCACGCC | |
| 7 | g.2538663_2538696del | CA1683198609 | BRAT1 | c.1841_1874del (p.Gln614ProfsTer?) n.3627_3660del n.4413_4446del n.384_417del n.4547_4580del c.2021_2054del (p.Gln674ProfsTer?) c.2105_2138del (p.Gln702ProfsTer?) c.2102_2135del (p.Gln701ProfsTer?) c.2075_2108del (p.Gln692ProfsTer?) c.1925_1958del (p.Gln642ProfsTer?) c.1580_1613del (p.Gln527ProfsTer?) c.1752_*21del (n.[c.1752_*21del;Ser585AspfsTer?]) c.677_710del (p.Gln226ProfsTer?) c.1316_1349del (p.Gln439ProfsTer?) n.2258_2291del c.2018_2051del (p.Gln673ProfsTer?) c.1838_1871del (p.Gln613ProfsTer?) c.1668_*21del (n.[c.1668_*21del;Ser557AspfsTer?]) n.2024_2057del | dbSNP |
| 7 | g.2538678C>A | CA366625454 | BRAT1 | c.1857G>T (p.Trp619Cys) n.3643G>T n.4429G>T n.400G>T n.4563G>T c.2037G>T (p.Trp679Cys) c.2121G>T (p.Trp707Cys) c.2118G>T (p.Trp706Cys) c.2091G>T (p.Trp697Cys) c.1941G>T (p.Trp647Cys) c.1596G>T (p.Trp532Cys) c.*4G>T (n.*4G>T) c.693G>T (p.Trp231Cys) c.1332G>T (p.Trp444Cys) n.2274G>T c.2034G>T (p.Trp678Cys) c.1854G>T (p.Trp618Cys) n.2040G>T | gnomAD v4 |
| 7 | g.2538678C= | CA1683198620 | BRAT1 | c.1857G= (p.Trp619=) n.3643G= n.4429G= n.400G= n.4563G= c.2037G= (p.Trp679=) c.2121G= (p.Trp707=) c.2118G= (p.Trp706=) c.2091G= (p.Trp697=) c.1941G= (p.Trp647=) c.1596G= (p.Trp532=) c.*4G= (n.*4G=) c.693G= (p.Trp231=) c.1332G= (p.Trp444=) n.2274G= c.2034G= (p.Trp678=) c.1854G= (p.Trp618=) n.2040G= | |
| 7 | g.2538678C>G | CA366625455 | BRAT1 | c.1857G>C (p.Trp619Cys) n.3643G>C n.4429G>C n.400G>C n.4563G>C c.2037G>C (p.Trp679Cys) c.2121G>C (p.Trp707Cys) c.2118G>C (p.Trp706Cys) c.2091G>C (p.Trp697Cys) c.1941G>C (p.Trp647Cys) c.1596G>C (p.Trp532Cys) c.*4G>C (n.*4G>C) c.693G>C (p.Trp231Cys) c.1332G>C (p.Trp444Cys) n.2274G>C c.2034G>C (p.Trp678Cys) c.1854G>C (p.Trp618Cys) n.2040G>C | |
| 7 | g.2538678C>T | CA203858 | BRAT1 | c.1857G>A (p.Trp619Ter) n.3643G>A n.4429G>A n.400G>A n.4563G>A c.2037G>A (p.Trp679Ter) c.2121G>A (p.Trp707Ter) c.2118G>A (p.Trp706Ter) c.2091G>A (p.Trp697Ter) c.1941G>A (p.Trp647Ter) c.1596G>A (p.Trp532Ter) c.*4G>A (n.*4G>A) c.693G>A (p.Trp231Ter) c.1332G>A (p.Trp444Ter) n.2274G>A c.2034G>A (p.Trp678Ter) c.1854G>A (p.Trp618Ter) n.2040G>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.2538678_2538679insTGTCGGGCCGAGGCCTGGGGCACACGGGCGGTACCCTCGACAAGCTCGAGGCCATCCCCGGGTGGCGCGCGCAGCTGTCCAA | CA453627776 | BRAT1 | c.1856_1857insTTGGACAGCTGCGCGCGCCACCCGGGGATGGCCTCGAGCTTGTCGAGGGTACCGCCCGTGTGCCCCAGGCCTCGGCCCGACA (p.Trp619CysfsTer?) n.3642_3643insTTGGACAGCTGCGCGCGCCACCCGGGGATGGCCTCGAGCTTGTCGAGGGTACCGCCCGTGTGCCCCAGGCCTCGGCCCGACA n.4428_4429insTTGGACAGCTGCGCGCGCCACCCGGGGATGGCCTCGAGCTTGTCGAGGGTACCGCCCGTGTGCCCCAGGCCTCGGCCCGACA n.399_400insTTGGACAGCTGCGCGCGCCACCCGGGGATGGCCTCGAGCTTGTCGAGGGTACCGCCCGTGTGCCCCAGGCCTCGGCCCGACA n.4562_4563insTTGGACAGCTGCGCGCGCCACCCGGGGATGGCCTCGAGCTTGTCGAGGGTACCGCCCGTGTGCCCCAGGCCTCGGCCCGACA c.2036_2037insTTGGACAGCTGCGCGCGCCACCCGGGGATGGCCTCGAGCTTGTCGAGGGTACCGCCCGTGTGCCCCAGGCCTCGGCCCGACA (p.Trp679CysfsTer?) c.2120_2121insTTGGACAGCTGCGCGCGCCACCCGGGGATGGCCTCGAGCTTGTCGAGGGTACCGCCCGTGTGCCCCAGGCCTCGGCCCGACA (p.Trp707CysfsTer?) c.2117_2118insTTGGACAGCTGCGCGCGCCACCCGGGGATGGCCTCGAGCTTGTCGAGGGTACCGCCCGTGTGCCCCAGGCCTCGGCCCGACA (p.Trp706CysfsTer?) c.2090_2091insTTGGACAGCTGCGCGCGCCACCCGGGGATGGCCTCGAGCTTGTCGAGGGTACCGCCCGTGTGCCCCAGGCCTCGGCCCGACA (p.Trp697CysfsTer?) c.1940_1941insTTGGACAGCTGCGCGCGCCACCCGGGGATGGCCTCGAGCTTGTCGAGGGTACCGCCCGTGTGCCCCAGGCCTCGGCCCGACA (p.Trp647CysfsTer?) c.1595_1596insTTGGACAGCTGCGCGCGCCACCCGGGGATGGCCTCGAGCTTGTCGAGGGTACCGCCCGTGTGCCCCAGGCCTCGGCCCGACA (p.Trp532CysfsTer?) c.*3_*4insTTGGACAGCTGCGCGCGCCACCCGGGGATGGCCTCGAGCTTGTCGAGGGTACCGCCCGTGTGCCCCAGGCCTCGGCCCGACA (n.*3_*4insTTGGACAGCTGCGCGCGCCACCCGGGGATGGCCTCGAGCTTGTCGAGGGTACCGCCCGTGTGCCCCAGGCCTCGGCCCGACA) c.692_693insTTGGACAGCTGCGCGCGCCACCCGGGGATGGCCTCGAGCTTGTCGAGGGTACCGCCCGTGTGCCCCAGGCCTCGGCCCGACA (p.Trp231CysfsTer?) c.1331_1332insTTGGACAGCTGCGCGCGCCACCCGGGGATGGCCTCGAGCTTGTCGAGGGTACCGCCCGTGTGCCCCAGGCCTCGGCCCGACA (p.Trp444CysfsTer?) n.2273_2274insTTGGACAGCTGCGCGCGCCACCCGGGGATGGCCTCGAGCTTGTCGAGGGTACCGCCCGTGTGCCCCAGGCCTCGGCCCGACA c.2033_2034insTTGGACAGCTGCGCGCGCCACCCGGGGATGGCCTCGAGCTTGTCGAGGGTACCGCCCGTGTGCCCCAGGCCTCGGCCCGACA (p.Trp678CysfsTer?) c.1853_1854insTTGGACAGCTGCGCGCGCCACCCGGGGATGGCCTCGAGCTTGTCGAGGGTACCGCCCGTGTGCCCCAGGCCTCGGCCCGACA (p.Trp618CysfsTer?) n.2039_2040insTTGGACAGCTGCGCGCGCCACCCGGGGATGGCCTCGAGCTTGTCGAGGGTACCGCCCGTGTGCCCCAGGCCTCGGCCCGACA | |
| 7 | g.2538679C>A | CA366625457 | BRAT1 | c.1856G>T (p.Trp619Leu) n.3642G>T n.4428G>T n.399G>T n.4562G>T c.2036G>T (p.Trp679Leu) c.2120G>T (p.Trp707Leu) c.2117G>T (p.Trp706Leu) c.2090G>T (p.Trp697Leu) c.1940G>T (p.Trp647Leu) c.1595G>T (p.Trp532Leu) c.*3G>T (n.*3G>T) c.692G>T (p.Trp231Leu) c.1331G>T (p.Trp444Leu) n.2273G>T c.2033G>T (p.Trp678Leu) c.1853G>T (p.Trp618Leu) n.2039G>T | |
| 7 | g.2538679C>G | CA366625458 | BRAT1 | c.1856G>C (p.Trp619Ser) n.3642G>C n.4428G>C n.399G>C n.4562G>C c.2036G>C (p.Trp679Ser) c.2120G>C (p.Trp707Ser) c.2117G>C (p.Trp706Ser) c.2090G>C (p.Trp697Ser) c.1940G>C (p.Trp647Ser) c.1595G>C (p.Trp532Ser) c.*3G>C (n.*3G>C) c.692G>C (p.Trp231Ser) c.1331G>C (p.Trp444Ser) n.2273G>C c.2033G>C (p.Trp678Ser) c.1853G>C (p.Trp618Ser) n.2039G>C | |
| 7 | g.2538679C>T | CA366625459 | BRAT1 | c.1856G>A (p.Trp619Ter) n.3642G>A n.4428G>A n.399G>A n.4562G>A c.2036G>A (p.Trp679Ter) c.2120G>A (p.Trp707Ter) c.2117G>A (p.Trp706Ter) c.2090G>A (p.Trp697Ter) c.1940G>A (p.Trp647Ter) c.1595G>A (p.Trp532Ter) c.*3G>A (n.*3G>A) c.692G>A (p.Trp231Ter) c.1331G>A (p.Trp444Ter) n.2273G>A c.2033G>A (p.Trp678Ter) c.1853G>A (p.Trp618Ter) n.2039G>A | |
| 7 | g.2538681_2538684del | CA2681476638 | BRAT1 | c.1853_1856del (p.Glu618GlyfsTer?) n.3639_3642del n.4425_4428del n.396_399del n.4559_4562del c.2033_2036del (p.Glu678GlyfsTer?) c.2117_2120del (p.Glu706GlyfsTer?) c.2114_2117del (p.Glu705GlyfsTer?) c.2087_2090del (p.Glu696GlyfsTer?) c.1937_1940del (p.Glu646GlyfsTer?) c.1592_1595del (p.Glu531GlyfsTer?) c.1764_*3del (n.[c.1764_*3del;Ter588TrpextTer?]) c.689_692del (p.Glu230GlyfsTer?) c.1328_1331del (p.Glu443GlyfsTer?) n.2270_2273del c.2030_2033del (p.Glu677GlyfsTer?) c.1850_1853del (p.Glu617GlyfsTer?) c.1680_*3del (n.[c.1680_*3del;Ter560TrpextTer?]) n.2036_2039del | gnomAD v4 |
| 7 | g.2538680A>C | CA366625461 | BRAT1 | c.1855T>G (p.Trp619Gly) n.3641T>G n.4427T>G n.398T>G n.4561T>G c.2035T>G (p.Trp679Gly) c.2119T>G (p.Trp707Gly) c.2116T>G (p.Trp706Gly) c.2089T>G (p.Trp697Gly) c.1939T>G (p.Trp647Gly) c.1594T>G (p.Trp532Gly) c.*2T>G (n.*2T>G) c.691T>G (p.Trp231Gly) c.1330T>G (p.Trp444Gly) n.2272T>G c.2032T>G (p.Trp678Gly) c.1852T>G (p.Trp618Gly) n.2038T>G | |
| 7 | g.2538680A>G | CA366625462 | BRAT1 | c.1855T>C (p.Trp619Arg) n.3641T>C n.4427T>C n.398T>C n.4561T>C c.2035T>C (p.Trp679Arg) c.2119T>C (p.Trp707Arg) c.2116T>C (p.Trp706Arg) c.2089T>C (p.Trp697Arg) c.1939T>C (p.Trp647Arg) c.1594T>C (p.Trp532Arg) c.*2T>C (n.*2T>C) c.691T>C (p.Trp231Arg) c.1330T>C (p.Trp444Arg) n.2272T>C c.2032T>C (p.Trp678Arg) c.1852T>C (p.Trp618Arg) n.2038T>C | |
| 7 | g.2538680A>T | CA366625460 | BRAT1 | c.1855T>A (p.Trp619Arg) n.3641T>A n.4427T>A n.398T>A n.4561T>A c.2035T>A (p.Trp679Arg) c.2119T>A (p.Trp707Arg) c.2116T>A (p.Trp706Arg) c.2089T>A (p.Trp697Arg) c.1939T>A (p.Trp647Arg) c.1594T>A (p.Trp532Arg) c.*2T>A (n.*2T>A) c.691T>A (p.Trp231Arg) c.1330T>A (p.Trp444Arg) n.2272T>A c.2032T>A (p.Trp678Arg) c.1852T>A (p.Trp618Arg) n.2038T>A | |
| 7 | g.2538681C>A | CA366625463 | BRAT1 | c.1854G>T (p.Glu618Asp) n.3640G>T n.4426G>T n.397G>T n.4560G>T c.2034G>T (p.Glu678Asp) c.2118G>T (p.Glu706Asp) c.2115G>T (p.Glu705Asp) c.2088G>T (p.Glu696Asp) c.1938G>T (p.Glu646Asp) c.1593G>T (p.Glu531Asp) c.*1G>T (n.*1G>T) c.690G>T (p.Glu230Asp) c.1329G>T (p.Glu443Asp) n.2271G>T c.2031G>T (p.Glu677Asp) c.1851G>T (p.Glu617Asp) n.2037G>T | |
| 7 | g.2538681C>G | CA366625464 | BRAT1 | c.1854G>C (p.Glu618Asp) n.3640G>C n.4426G>C n.397G>C n.4560G>C c.2034G>C (p.Glu678Asp) c.2118G>C (p.Glu706Asp) c.2115G>C (p.Glu705Asp) c.2088G>C (p.Glu696Asp) c.1938G>C (p.Glu646Asp) c.1593G>C (p.Glu531Asp) c.*1G>C (n.*1G>C) c.690G>C (p.Glu230Asp) c.1329G>C (p.Glu443Asp) n.2271G>C c.2031G>C (p.Glu677Asp) c.1851G>C (p.Glu617Asp) n.2037G>C | |
| 7 | g.2538681C>T | CA453627778 | BRAT1 | c.1854G>A (p.Glu618=) n.3640G>A n.4426G>A n.397G>A n.4560G>A c.2034G>A (p.Glu678=) c.2118G>A (p.Glu706=) c.2115G>A (p.Glu705=) c.2088G>A (p.Glu696=) c.1938G>A (p.Glu646=) c.1593G>A (p.Glu531=) c.*1G>A (n.*1G>A) c.690G>A (p.Glu230=) c.1329G>A (p.Glu443=) n.2271G>A c.2031G>A (p.Glu677=) c.1851G>A (p.Glu617=) n.2037G>A | gnomAD v4 |
| 7 | g.2538682T>A | CA366625466 | BRAT1 | c.1853A>T (p.Glu618Val) n.3639A>T n.4425A>T n.396A>T n.4559A>T c.2033A>T (p.Glu678Val) c.2117A>T (p.Glu706Val) c.2114A>T (p.Glu705Val) c.2087A>T (p.Glu696Val) c.1937A>T (p.Glu646Val) c.1592A>T (p.Glu531Val) c.1764A>T (p.Ter588Cys) c.689A>T (p.Glu230Val) c.1328A>T (p.Glu443Val) n.2270A>T c.2030A>T (p.Glu677Val) c.1850A>T (p.Glu617Val) c.1680A>T (p.Ter560Cys) n.2036A>T | gnomAD v4 |
| 7 | g.2538682T>C | CA366625468 | BRAT1 | c.1853A>G (p.Glu618Gly) n.3639A>G n.4425A>G n.396A>G n.4559A>G c.2033A>G (p.Glu678Gly) c.2117A>G (p.Glu706Gly) c.2114A>G (p.Glu705Gly) c.2087A>G (p.Glu696Gly) c.1937A>G (p.Glu646Gly) c.1592A>G (p.Glu531Gly) c.1764A>G (p.Ter588Trp) c.689A>G (p.Glu230Gly) c.1328A>G (p.Glu443Gly) n.2270A>G c.2030A>G (p.Glu677Gly) c.1850A>G (p.Glu617Gly) c.1680A>G (p.Ter560Trp) n.2036A>G | |
| 7 | g.2538682T>G | CA366625469 | BRAT1 | c.1853A>C (p.Glu618Ala) n.3639A>C n.4425A>C n.396A>C n.4559A>C c.2033A>C (p.Glu678Ala) c.2117A>C (p.Glu706Ala) c.2114A>C (p.Glu705Ala) c.2087A>C (p.Glu696Ala) c.1937A>C (p.Glu646Ala) c.1592A>C (p.Glu531Ala) c.1764A>C (p.Ter588Cys) c.689A>C (p.Glu230Ala) c.1328A>C (p.Glu443Ala) n.2270A>C c.2030A>C (p.Glu677Ala) c.1850A>C (p.Glu617Ala) c.1680A>C (p.Ter560Cys) n.2036A>C | gnomAD v4 |
| 7 | g.2538683C>A | CA366625471 | BRAT1 | c.1852G>T (p.Glu618Ter) n.3638G>T n.4424G>T n.395G>T n.4558G>T c.2032G>T (p.Glu678Ter) c.2116G>T (p.Glu706Ter) c.2113G>T (p.Glu705Ter) c.2086G>T (p.Glu696Ter) c.1936G>T (p.Glu646Ter) c.1591G>T (p.Glu531Ter) c.1763G>T (p.Ter588Leu) c.688G>T (p.Glu230Ter) c.1327G>T (p.Glu443Ter) n.2269G>T c.2029G>T (p.Glu677Ter) c.1849G>T (p.Glu617Ter) c.1679G>T (p.Ter560Leu) n.2035G>T | |
| 7 | g.2538683C= | CA1683198621 | BRAT1 | c.1852G= (p.Glu618=) n.3638G= n.4424G= n.395G= n.4558G= c.2032G= (p.Glu678=) c.2116G= (p.Glu706=) c.2113G= (p.Glu705=) c.2086G= (p.Glu696=) c.1936G= (p.Glu646=) c.1591G= (p.Glu531=) c.1763G= (p.Ter588=) c.688G= (p.Glu230=) c.1327G= (p.Glu443=) n.2269G= c.2029G= (p.Glu677=) c.1849G= (p.Glu617=) c.1679G= (p.Ter560=) n.2035G= | |
| 7 | g.2538683C>G | CA366625473 | BRAT1 | c.1852G>C (p.Glu618Gln) n.3638G>C n.4424G>C n.395G>C n.4558G>C c.2032G>C (p.Glu678Gln) c.2116G>C (p.Glu706Gln) c.2113G>C (p.Glu705Gln) c.2086G>C (p.Glu696Gln) c.1936G>C (p.Glu646Gln) c.1591G>C (p.Glu531Gln) c.1763G>C (p.Ter588Ser) c.688G>C (p.Glu230Gln) c.1327G>C (p.Glu443Gln) n.2269G>C c.2029G>C (p.Glu677Gln) c.1849G>C (p.Glu617Gln) c.1679G>C (p.Ter560Ser) n.2035G>C | |
| 7 | g.2538683C>T | CA366625475 | BRAT1 | c.1852G>A (p.Glu618Lys) n.3638G>A n.4424G>A n.395G>A n.4558G>A c.2032G>A (p.Glu678Lys) c.2116G>A (p.Glu706Lys) c.2113G>A (p.Glu705Lys) c.2086G>A (p.Glu696Lys) c.1936G>A (p.Glu646Lys) c.1591G>A (p.Glu531Lys) c.1763G>A (p.Ter588=) c.688G>A (p.Glu230Lys) c.1327G>A (p.Glu443Lys) n.2269G>A c.2029G>A (p.Glu677Lys) c.1849G>A (p.Glu617Lys) c.1679G>A (p.Ter560=) n.2035G>A | dbSNP gnomAD v4 |
| 7 | g.2538684A>C | CA453627783 | BRAT1 | c.1851T>G (p.Thr617=) n.3637T>G n.4423T>G n.394T>G n.4557T>G c.2031T>G (p.Thr677=) c.2115T>G (p.Thr705=) c.2112T>G (p.Thr704=) c.2085T>G (p.Thr695=) c.1935T>G (p.Thr645=) c.1590T>G (p.Thr530=) c.1762T>G (p.Ter588Gly) c.687T>G (p.Thr229=) c.1326T>G (p.Thr442=) n.2268T>G c.2028T>G (p.Thr676=) c.1848T>G (p.Thr616=) c.1678T>G (p.Ter560Gly) n.2034T>G | |
| 7 | g.2538684A>G | CA453627785 | BRAT1 | c.1851T>C (p.Thr617=) n.3637T>C n.4423T>C n.394T>C n.4557T>C c.2031T>C (p.Thr677=) c.2115T>C (p.Thr705=) c.2112T>C (p.Thr704=) c.2085T>C (p.Thr695=) c.1935T>C (p.Thr645=) c.1590T>C (p.Thr530=) c.1762T>C (p.Ter588Arg) c.687T>C (p.Thr229=) c.1326T>C (p.Thr442=) n.2268T>C c.2028T>C (p.Thr676=) c.1848T>C (p.Thr616=) c.1678T>C (p.Ter560Arg) n.2034T>C | gnomAD v4 |
| 7 | g.2538684A>T | CA453627786 | BRAT1 | c.1851T>A (p.Thr617=) n.3637T>A n.4423T>A n.394T>A n.4557T>A c.2031T>A (p.Thr677=) c.2115T>A (p.Thr705=) c.2112T>A (p.Thr704=) c.2085T>A (p.Thr695=) c.1935T>A (p.Thr645=) c.1590T>A (p.Thr530=) c.1762T>A (p.Ter588Arg) c.687T>A (p.Thr229=) c.1326T>A (p.Thr442=) n.2268T>A c.2028T>A (p.Thr676=) c.1848T>A (p.Thr616=) c.1678T>A (p.Ter560Arg) n.2034T>A | |
| 7 | g.2538685G>A | CA366625476 | BRAT1 | c.1850C>T (p.Thr617Ile) n.3636C>T n.4422C>T n.393C>T n.4556C>T c.2030C>T (p.Thr677Ile) c.2114C>T (p.Thr705Ile) c.2111C>T (p.Thr704Ile) c.2084C>T (p.Thr695Ile) c.1934C>T (p.Thr645Ile) c.1589C>T (p.Thr530Ile) c.1761C>T (p.His587=) c.686C>T (p.Thr229Ile) c.1325C>T (p.Thr442Ile) n.2267C>T c.2027C>T (p.Thr676Ile) c.1847C>T (p.Thr616Ile) c.1677C>T (p.His559=) n.2033C>T | |
| 7 | g.2538685G>C | CA366625478 | BRAT1 | c.1850C>G (p.Thr617Ser) n.3636C>G n.4422C>G n.393C>G n.4556C>G c.2030C>G (p.Thr677Ser) c.2114C>G (p.Thr705Ser) c.2111C>G (p.Thr704Ser) c.2084C>G (p.Thr695Ser) c.1934C>G (p.Thr645Ser) c.1589C>G (p.Thr530Ser) c.1761C>G (p.His587Gln) c.686C>G (p.Thr229Ser) c.1325C>G (p.Thr442Ser) n.2267C>G c.2027C>G (p.Thr676Ser) c.1847C>G (p.Thr616Ser) c.1677C>G (p.His559Gln) n.2033C>G | |
| 7 | g.2538685G>T | CA366625480 | BRAT1 | c.1850C>A (p.Thr617Asn) n.3636C>A n.4422C>A n.393C>A n.4556C>A c.2030C>A (p.Thr677Asn) c.2114C>A (p.Thr705Asn) c.2111C>A (p.Thr704Asn) c.2084C>A (p.Thr695Asn) c.1934C>A (p.Thr645Asn) c.1589C>A (p.Thr530Asn) c.1761C>A (p.His587Gln) c.686C>A (p.Thr229Asn) c.1325C>A (p.Thr442Asn) n.2267C>A c.2027C>A (p.Thr676Asn) c.1847C>A (p.Thr616Asn) c.1677C>A (p.His559Gln) n.2033C>A | |
| 7 | g.2538686T>A | CA366625482 | BRAT1 | c.1849A>T (p.Thr617Ser) n.3635A>T n.4421A>T n.392A>T n.4555A>T c.2029A>T (p.Thr677Ser) c.2113A>T (p.Thr705Ser) c.2110A>T (p.Thr704Ser) c.2083A>T (p.Thr695Ser) c.1933A>T (p.Thr645Ser) c.1588A>T (p.Thr530Ser) c.1760A>T (p.His587Leu) c.685A>T (p.Thr229Ser) c.1324A>T (p.Thr442Ser) n.2266A>T c.2026A>T (p.Thr676Ser) c.1846A>T (p.Thr616Ser) c.1676A>T (p.His559Leu) n.2032A>T | |
| 7 | g.2538686T>C | CA152665014 | BRAT1 | c.1849A>G (p.Thr617Ala) n.3635A>G n.4421A>G n.392A>G n.4555A>G c.2029A>G (p.Thr677Ala) c.2113A>G (p.Thr705Ala) c.2110A>G (p.Thr704Ala) c.2083A>G (p.Thr695Ala) c.1933A>G (p.Thr645Ala) c.1588A>G (p.Thr530Ala) c.1760A>G (p.His587Arg) c.685A>G (p.Thr229Ala) c.1324A>G (p.Thr442Ala) n.2266A>G c.2026A>G (p.Thr676Ala) c.1846A>G (p.Thr616Ala) c.1676A>G (p.His559Arg) n.2032A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.2538686T>G | CA366625484 | BRAT1 | c.1849A>C (p.Thr617Pro) n.3635A>C n.4421A>C n.392A>C n.4555A>C c.2029A>C (p.Thr677Pro) c.2113A>C (p.Thr705Pro) c.2110A>C (p.Thr704Pro) c.2083A>C (p.Thr695Pro) c.1933A>C (p.Thr645Pro) c.1588A>C (p.Thr530Pro) c.1760A>C (p.His587Pro) c.685A>C (p.Thr229Pro) c.1324A>C (p.Thr442Pro) n.2266A>C c.2026A>C (p.Thr676Pro) c.1846A>C (p.Thr616Pro) c.1676A>C (p.His559Pro) n.2032A>C | |
| 7 | g.2538686T= | CA1683198622 | BRAT1 | c.1849A= (p.Thr617=) n.3635A= n.4421A= n.392A= n.4555A= c.2029A= (p.Thr677=) c.2113A= (p.Thr705=) c.2110A= (p.Thr704=) c.2083A= (p.Thr695=) c.1933A= (p.Thr645=) c.1588A= (p.Thr530=) c.1760A= (p.His587=) c.685A= (p.Thr229=) c.1324A= (p.Thr442=) n.2266A= c.2026A= (p.Thr676=) c.1846A= (p.Thr616=) c.1676A= (p.His559=) n.2032A= | |
| 7 | g.2538687G>A | CA453627788 | BRAT1 | c.1848C>T (p.Phe616=) n.3634C>T n.4420C>T n.391C>T n.4554C>T c.2028C>T (p.Phe676=) c.2112C>T (p.Phe704=) c.2109C>T (p.Phe703=) c.2082C>T (p.Phe694=) c.1932C>T (p.Phe644=) c.1587C>T (p.Phe529=) c.1759C>T (p.His587Tyr) c.684C>T (p.Phe228=) c.1323C>T (p.Phe441=) n.2265C>T c.2025C>T (p.Phe675=) c.1845C>T (p.Phe615=) c.1675C>T (p.His559Tyr) n.2031C>T | |
| 7 | g.2538687G>C | CA366625488 | BRAT1 | c.1848C>G (p.Phe616Leu) n.3634C>G n.4420C>G n.391C>G n.4554C>G c.2028C>G (p.Phe676Leu) c.2112C>G (p.Phe704Leu) c.2109C>G (p.Phe703Leu) c.2082C>G (p.Phe694Leu) c.1932C>G (p.Phe644Leu) c.1587C>G (p.Phe529Leu) c.1759C>G (p.His587Asp) c.684C>G (p.Phe228Leu) c.1323C>G (p.Phe441Leu) n.2265C>G c.2025C>G (p.Phe675Leu) c.1845C>G (p.Phe615Leu) c.1675C>G (p.His559Asp) n.2031C>G | |
| 7 | g.2538687G>T | CA366625486 | BRAT1 | c.1848C>A (p.Phe616Leu) n.3634C>A n.4420C>A n.391C>A n.4554C>A c.2028C>A (p.Phe676Leu) c.2112C>A (p.Phe704Leu) c.2109C>A (p.Phe703Leu) c.2082C>A (p.Phe694Leu) c.1932C>A (p.Phe644Leu) c.1587C>A (p.Phe529Leu) c.1759C>A (p.His587Asn) c.684C>A (p.Phe228Leu) c.1323C>A (p.Phe441Leu) n.2265C>A c.2025C>A (p.Phe675Leu) c.1845C>A (p.Phe615Leu) c.1675C>A (p.His559Asn) n.2031C>A | |
| 7 | g.2538688A= | CA1683198623 | BRAT1 | c.1847T= (p.Phe616=) n.3633T= n.4419T= n.390T= n.4553T= c.2027T= (p.Phe676=) c.2111T= (p.Phe704=) c.2108T= (p.Phe703=) c.2081T= (p.Phe694=) c.1931T= (p.Phe644=) c.1586T= (p.Phe529=) c.1758T= (p.Leu586=) c.683T= (p.Phe228=) c.1322T= (p.Phe441=) n.2264T= c.2024T= (p.Phe675=) c.1844T= (p.Phe615=) c.1674T= (p.Leu558=) n.2030T= | |
| 7 | g.2538688A>C | CA366625489 | BRAT1 | c.1847T>G (p.Phe616Cys) n.3633T>G n.4419T>G n.390T>G n.4553T>G c.2027T>G (p.Phe676Cys) c.2111T>G (p.Phe704Cys) c.2108T>G (p.Phe703Cys) c.2081T>G (p.Phe694Cys) c.1931T>G (p.Phe644Cys) c.1586T>G (p.Phe529Cys) c.1758T>G (p.Leu586=) c.683T>G (p.Phe228Cys) c.1322T>G (p.Phe441Cys) n.2264T>G c.2024T>G (p.Phe675Cys) c.1844T>G (p.Phe615Cys) c.1674T>G (p.Leu558=) n.2030T>G | |
| 7 | g.2538688A>G | CA366625491 | BRAT1 | c.1847T>C (p.Phe616Ser) n.3633T>C n.4419T>C n.390T>C n.4553T>C c.2027T>C (p.Phe676Ser) c.2111T>C (p.Phe704Ser) c.2108T>C (p.Phe703Ser) c.2081T>C (p.Phe694Ser) c.1931T>C (p.Phe644Ser) c.1586T>C (p.Phe529Ser) c.1758T>C (p.Leu586=) c.683T>C (p.Phe228Ser) c.1322T>C (p.Phe441Ser) n.2264T>C c.2024T>C (p.Phe675Ser) c.1844T>C (p.Phe615Ser) c.1674T>C (p.Leu558=) n.2030T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.2538688A>T | CA366625492 | BRAT1 | c.1847T>A (p.Phe616Tyr) n.3633T>A n.4419T>A n.390T>A n.4553T>A c.2027T>A (p.Phe676Tyr) c.2111T>A (p.Phe704Tyr) c.2108T>A (p.Phe703Tyr) c.2081T>A (p.Phe694Tyr) c.1931T>A (p.Phe644Tyr) c.1586T>A (p.Phe529Tyr) c.1758T>A (p.Leu586=) c.683T>A (p.Phe228Tyr) c.1322T>A (p.Phe441Tyr) n.2264T>A c.2024T>A (p.Phe675Tyr) c.1844T>A (p.Phe615Tyr) c.1674T>A (p.Leu558=) n.2030T>A | |
| 7 | g.2538688_2538689dup | CA2681476643 | BRAT1 | c.1846_1847dup (p.Thr617SerfsTer?) n.3632_3633dup n.4418_4419dup n.389_390dup n.4552_4553dup c.2026_2027dup (p.Thr677SerfsTer?) c.2110_2111dup (p.Thr705SerfsTer?) c.2107_2108dup (p.Thr704SerfsTer?) c.2080_2081dup (p.Thr695SerfsTer?) c.1930_1931dup (p.Thr645SerfsTer?) c.1585_1586dup (p.Thr530SerfsTer?) c.1757_1758dup (p.His587PhefsTer?) c.682_683dup (p.Thr229SerfsTer?) c.1321_1322dup (p.Thr442SerfsTer?) n.2263_2264dup c.2023_2024dup (p.Thr676SerfsTer?) c.1843_1844dup (p.Thr616SerfsTer?) c.1673_1674dup (p.His559PhefsTer?) n.2029_2030dup | gnomAD v4 |
| 7 | g.2538689A= | CA1683198624 | BRAT1 | c.1846T= (p.Phe616=) n.3632T= n.4418T= n.389T= n.4552T= c.2026T= (p.Phe676=) c.2110T= (p.Phe704=) c.2107T= (p.Phe703=) c.2080T= (p.Phe694=) c.1930T= (p.Phe644=) c.1585T= (p.Phe529=) c.1757T= (p.Leu586=) c.682T= (p.Phe228=) c.1321T= (p.Phe441=) n.2263T= c.2023T= (p.Phe675=) c.1843T= (p.Phe615=) c.1673T= (p.Leu558=) n.2029T= | |
| 7 | g.2538689A>C | CA366625494 | BRAT1 | c.1846T>G (p.Phe616Val) n.3632T>G n.4418T>G n.389T>G n.4552T>G c.2026T>G (p.Phe676Val) c.2110T>G (p.Phe704Val) c.2107T>G (p.Phe703Val) c.2080T>G (p.Phe694Val) c.1930T>G (p.Phe644Val) c.1585T>G (p.Phe529Val) c.1757T>G (p.Leu586Arg) c.682T>G (p.Phe228Val) c.1321T>G (p.Phe441Val) n.2263T>G c.2023T>G (p.Phe675Val) c.1843T>G (p.Phe615Val) c.1673T>G (p.Leu558Arg) n.2029T>G | |
| 7 | g.2538689A>G | CA4127541 | BRAT1 | c.1846T>C (p.Phe616Leu) n.3632T>C n.4418T>C n.389T>C n.4552T>C c.2026T>C (p.Phe676Leu) c.2110T>C (p.Phe704Leu) c.2107T>C (p.Phe703Leu) c.2080T>C (p.Phe694Leu) c.1930T>C (p.Phe644Leu) c.1585T>C (p.Phe529Leu) c.1757T>C (p.Leu586Pro) c.682T>C (p.Phe228Leu) c.1321T>C (p.Phe441Leu) n.2263T>C c.2023T>C (p.Phe675Leu) c.1843T>C (p.Phe615Leu) c.1673T>C (p.Leu558Pro) n.2029T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.2538689A>T | CA366625497 | BRAT1 | c.1846T>A (p.Phe616Ile) n.3632T>A n.4418T>A n.389T>A n.4552T>A c.2026T>A (p.Phe676Ile) c.2110T>A (p.Phe704Ile) c.2107T>A (p.Phe703Ile) c.2080T>A (p.Phe694Ile) c.1930T>A (p.Phe644Ile) c.1585T>A (p.Phe529Ile) c.1757T>A (p.Leu586His) c.682T>A (p.Phe228Ile) c.1321T>A (p.Phe441Ile) n.2263T>A c.2023T>A (p.Phe675Ile) c.1843T>A (p.Phe615Ile) c.1673T>A (p.Leu558His) n.2029T>A | |
| 7 | g.2538690G>A | CA453627794 | BRAT1 | c.1845C>T (p.Val615=) n.3631C>T n.4417C>T n.388C>T n.4551C>T c.2025C>T (p.Val675=) c.2109C>T (p.Val703=) c.2106C>T (p.Val702=) c.2079C>T (p.Val693=) c.1929C>T (p.Val643=) c.1584C>T (p.Val528=) c.1756C>T (p.Leu586Phe) c.681C>T (p.Val227=) c.1320C>T (p.Val440=) n.2262C>T c.2022C>T (p.Val674=) c.1842C>T (p.Val614=) c.1672C>T (p.Leu558Phe) n.2028C>T | |
| 7 | g.2538690G>C | CA453627796 | BRAT1 | c.1845C>G (p.Val615=) n.3631C>G n.4417C>G n.388C>G n.4551C>G c.2025C>G (p.Val675=) c.2109C>G (p.Val703=) c.2106C>G (p.Val702=) c.2079C>G (p.Val693=) c.1929C>G (p.Val643=) c.1584C>G (p.Val528=) c.1756C>G (p.Leu586Val) c.681C>G (p.Val227=) c.1320C>G (p.Val440=) n.2262C>G c.2022C>G (p.Val674=) c.1842C>G (p.Val614=) c.1672C>G (p.Leu558Val) n.2028C>G | |
| 7 | g.2538690G>T | CA453627797 | BRAT1 | c.1845C>A (p.Val615=) n.3631C>A n.4417C>A n.388C>A n.4551C>A c.2025C>A (p.Val675=) c.2109C>A (p.Val703=) c.2106C>A (p.Val702=) c.2079C>A (p.Val693=) c.1929C>A (p.Val643=) c.1584C>A (p.Val528=) c.1756C>A (p.Leu586Ile) c.681C>A (p.Val227=) c.1320C>A (p.Val440=) n.2262C>A c.2022C>A (p.Val674=) c.1842C>A (p.Val614=) c.1672C>A (p.Leu558Ile) n.2028C>A | gnomAD v4 |
| 7 | g.2538691A>C | CA366625501 | BRAT1 | c.1844T>G (p.Val615Gly) n.3630T>G n.4416T>G n.387T>G n.4550T>G c.2024T>G (p.Val675Gly) c.2108T>G (p.Val703Gly) c.2105T>G (p.Val702Gly) c.2078T>G (p.Val693Gly) c.1928T>G (p.Val643Gly) c.1583T>G (p.Val528Gly) c.1755T>G (p.Ser585Arg) c.680T>G (p.Val227Gly) c.1319T>G (p.Val440Gly) n.2261T>G c.2021T>G (p.Val674Gly) c.1841T>G (p.Val614Gly) c.1671T>G (p.Ser557Arg) n.2027T>G |