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.2538560_2538676delinsGGGCCAGCTCCAGGCCCTGGGCGCGGACCTCCCAGTCCAGGTCTCGGCTCGCCGCCTGCAGCACAGTGGCCACGAACTGCTCCGTGTCCTGGGCCGCGTCGGCGTGGCCGTCCCGCA | CA1683198537 | BRAT1 | c.1859_1975delinsTGCGGGACGGCCACGCCGACGCGGCCCAGGACACGGAGCAGTTCGTGGCCACTGTGCTGCAGGCGGCGAGCCGAGACCTGGACTGGGAGGTCCGCGCCCAGGGCCTGGAGCTGGCCC (p.Leu620=) n.3645_3761delinsTGCGGGACGGCCACGCCGACGCGGCCCAGGACACGGAGCAGTTCGTGGCCACTGTGCTGCAGGCGGCGAGCCGAGACCTGGACTGGGAGGTCCGCGCCCAGGGCCTGGAGCTGGCCC n.4431_4547delinsTGCGGGACGGCCACGCCGACGCGGCCCAGGACACGGAGCAGTTCGTGGCCACTGTGCTGCAGGCGGCGAGCCGAGACCTGGACTGGGAGGTCCGCGCCCAGGGCCTGGAGCTGGCCC n.402_518delinsTGCGGGACGGCCACGCCGACGCGGCCCAGGACACGGAGCAGTTCGTGGCCACTGTGCTGCAGGCGGCGAGCCGAGACCTGGACTGGGAGGTCCGCGCCCAGGGCCTGGAGCTGGCCC n.4565_4681delinsTGCGGGACGGCCACGCCGACGCGGCCCAGGACACGGAGCAGTTCGTGGCCACTGTGCTGCAGGCGGCGAGCCGAGACCTGGACTGGGAGGTCCGCGCCCAGGGCCTGGAGCTGGCCC c.2039_2155delinsTGCGGGACGGCCACGCCGACGCGGCCCAGGACACGGAGCAGTTCGTGGCCACTGTGCTGCAGGCGGCGAGCCGAGACCTGGACTGGGAGGTCCGCGCCCAGGGCCTGGAGCTGGCCC (p.Leu680=) c.2123_2239delinsTGCGGGACGGCCACGCCGACGCGGCCCAGGACACGGAGCAGTTCGTGGCCACTGTGCTGCAGGCGGCGAGCCGAGACCTGGACTGGGAGGTCCGCGCCCAGGGCCTGGAGCTGGCCC (p.Leu708=) c.2120_2236delinsTGCGGGACGGCCACGCCGACGCGGCCCAGGACACGGAGCAGTTCGTGGCCACTGTGCTGCAGGCGGCGAGCCGAGACCTGGACTGGGAGGTCCGCGCCCAGGGCCTGGAGCTGGCCC (p.Leu707=) c.2093_2209delinsTGCGGGACGGCCACGCCGACGCGGCCCAGGACACGGAGCAGTTCGTGGCCACTGTGCTGCAGGCGGCGAGCCGAGACCTGGACTGGGAGGTCCGCGCCCAGGGCCTGGAGCTGGCCC (p.Leu698=) c.1943_2059delinsTGCGGGACGGCCACGCCGACGCGGCCCAGGACACGGAGCAGTTCGTGGCCACTGTGCTGCAGGCGGCGAGCCGAGACCTGGACTGGGAGGTCCGCGCCCAGGGCCTGGAGCTGGCCC (p.Leu648=) c.1598_1714delinsTGCGGGACGGCCACGCCGACGCGGCCCAGGACACGGAGCAGTTCGTGGCCACTGTGCTGCAGGCGGCGAGCCGAGACCTGGACTGGGAGGTCCGCGCCCAGGGCCTGGAGCTGGCCC (p.Leu533=) c.695_811delinsTGCGGGACGGCCACGCCGACGCGGCCCAGGACACGGAGCAGTTCGTGGCCACTGTGCTGCAGGCGGCGAGCCGAGACCTGGACTGGGAGGTCCGCGCCCAGGGCCTGGAGCTGGCCC (p.Leu232=) c.1334_1450delinsTGCGGGACGGCCACGCCGACGCGGCCCAGGACACGGAGCAGTTCGTGGCCACTGTGCTGCAGGCGGCGAGCCGAGACCTGGACTGGGAGGTCCGCGCCCAGGGCCTGGAGCTGGCCC (p.Leu445=) n.2276_2392delinsTGCGGGACGGCCACGCCGACGCGGCCCAGGACACGGAGCAGTTCGTGGCCACTGTGCTGCAGGCGGCGAGCCGAGACCTGGACTGGGAGGTCCGCGCCCAGGGCCTGGAGCTGGCCC c.*6_*122delinsTGCGGGACGGCCACGCCGACGCGGCCCAGGACACGGAGCAGTTCGTGGCCACTGTGCTGCAGGCGGCGAGCCGAGACCTGGACTGGGAGGTCCGCGCCCAGGGCCTGGAGCTGGCCC (n.*6_*122delinsTGCGGGACGGCCACGCCGACGCGGCCCAGGACACGGAGCAGTTCGTGGCCACTGTGCTGCAGGCGGCGAGCCGAGACCTGGACTGGGAGGTCCGCGCCCAGGGCCTGGAGCTGGCCC) c.2036_2152delinsTGCGGGACGGCCACGCCGACGCGGCCCAGGACACGGAGCAGTTCGTGGCCACTGTGCTGCAGGCGGCGAGCCGAGACCTGGACTGGGAGGTCCGCGCCCAGGGCCTGGAGCTGGCCC (p.Leu679=) c.1856_1972delinsTGCGGGACGGCCACGCCGACGCGGCCCAGGACACGGAGCAGTTCGTGGCCACTGTGCTGCAGGCGGCGAGCCGAGACCTGGACTGGGAGGTCCGCGCCCAGGGCCTGGAGCTGGCCC (p.Leu619=) n.2042_2158delinsTGCGGGACGGCCACGCCGACGCGGCCCAGGACACGGAGCAGTTCGTGGCCACTGTGCTGCAGGCGGCGAGCCGAGACCTGGACTGGGAGGTCCGCGCCCAGGGCCTGGAGCTGGCCC | |
| 7 | g.2538562_2538677del | CA4127493 | BRAT1 | c.1859_1974del (p.Leu620ProfsTer?) n.3645_3760del n.4431_4546del n.402_517del n.4565_4680del c.2039_2154del (p.Leu680ProfsTer?) c.2123_2238del (p.Leu708ProfsTer?) c.2120_2235del (p.Leu707ProfsTer?) c.2093_2208del (p.Leu698ProfsTer?) c.1943_2058del (p.Leu648ProfsTer?) c.1598_1713del (p.Leu533ProfsTer?) c.695_810del (p.Leu232ProfsTer?) c.1334_1449del (p.Leu445ProfsTer?) n.2276_2391del c.*6_*121del (n.*6_*121del) c.2036_2151del (p.Leu679ProfsTer?) c.1856_1971del (p.Leu619ProfsTer?) n.2042_2157del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.2538573_2538590delinsGCCCTGGGCGCGGACCTC | CA1683198547 | BRAT1 | c.1945_1962delinsGAGGTCCGCGCCCAGGGC (p.Glu649=) n.3731_3748delinsGAGGTCCGCGCCCAGGGC n.4517_4534delinsGAGGTCCGCGCCCAGGGC n.488_505delinsGAGGTCCGCGCCCAGGGC n.4651_4668delinsGAGGTCCGCGCCCAGGGC c.2125_2142delinsGAGGTCCGCGCCCAGGGC (p.Glu709=) c.2209_2226delinsGAGGTCCGCGCCCAGGGC (p.Glu737=) c.2206_2223delinsGAGGTCCGCGCCCAGGGC (p.Glu736=) c.2179_2196delinsGAGGTCCGCGCCCAGGGC (p.Glu727=) c.2029_2046delinsGAGGTCCGCGCCCAGGGC (p.Glu677=) c.1684_1701delinsGAGGTCCGCGCCCAGGGC (p.Glu562=) c.781_798delinsGAGGTCCGCGCCCAGGGC (p.Glu261=) c.1420_1437delinsGAGGTCCGCGCCCAGGGC (p.Glu474=) n.2362_2379delinsGAGGTCCGCGCCCAGGGC c.*92_*109delinsGAGGTCCGCGCCCAGGGC (n.*92_*109delinsGAGGTCCGCGCCCAGGGC) c.2122_2139delinsGAGGTCCGCGCCCAGGGC (p.Glu708=) c.1942_1959delinsGAGGTCCGCGCCCAGGGC (p.Glu648=) n.2128_2145delinsGAGGTCCGCGCCCAGGGC | |
| 7 | g.2538576_2538592del | CA1683198548 | BRAT1 | c.1945_1961del (p.Glu649ProfsTer?) n.3731_3747del n.4517_4533del n.488_504del n.4651_4667del c.2125_2141del (p.Glu709ProfsTer?) c.2209_2225del (p.Glu737ProfsTer?) c.2206_2222del (p.Glu736ProfsTer?) c.2179_2195del (p.Glu727ProfsTer?) c.2029_2045del (p.Glu677ProfsTer?) c.1684_1700del (p.Glu562ProfsTer?) c.781_797del (p.Glu261ProfsTer?) c.1420_1436del (p.Glu474ProfsTer?) n.2362_2378del c.*92_*108del (n.*92_*108del) c.2122_2138del (p.Glu708ProfsTer?) c.1942_1958del (p.Glu648ProfsTer?) n.2128_2144del | dbSNP gnomAD v4 |
| 7 | g.2538578G>A | CA366625121 | BRAT1 | c.1957C>T (p.Gln653Ter) n.3743C>T n.4529C>T n.500C>T n.4663C>T c.2137C>T (p.Gln713Ter) c.2221C>T (p.Gln741Ter) c.2218C>T (p.Gln740Ter) c.2191C>T (p.Gln731Ter) c.2041C>T (p.Gln681Ter) c.1696C>T (p.Gln566Ter) c.793C>T (p.Gln265Ter) c.1432C>T (p.Gln478Ter) n.2374C>T c.*104C>T (n.*104C>T) c.2134C>T (p.Gln712Ter) c.1954C>T (p.Gln652Ter) n.2140C>T | |
| 7 | g.2538578G>C | CA366625123 | BRAT1 | c.1957C>G (p.Gln653Glu) n.3743C>G n.4529C>G n.500C>G n.4663C>G c.2137C>G (p.Gln713Glu) c.2221C>G (p.Gln741Glu) c.2218C>G (p.Gln740Glu) c.2191C>G (p.Gln731Glu) c.2041C>G (p.Gln681Glu) c.1696C>G (p.Gln566Glu) c.793C>G (p.Gln265Glu) c.1432C>G (p.Gln478Glu) n.2374C>G c.*104C>G (n.*104C>G) c.2134C>G (p.Gln712Glu) c.1954C>G (p.Gln652Glu) n.2140C>G | |
| 7 | g.2538578G>T | CA366625125 | BRAT1 | c.1957C>A (p.Gln653Lys) n.3743C>A n.4529C>A n.500C>A n.4663C>A c.2137C>A (p.Gln713Lys) c.2221C>A (p.Gln741Lys) c.2218C>A (p.Gln740Lys) c.2191C>A (p.Gln731Lys) c.2041C>A (p.Gln681Lys) c.1696C>A (p.Gln566Lys) c.793C>A (p.Gln265Lys) c.1432C>A (p.Gln478Lys) n.2374C>A c.*104C>A (n.*104C>A) c.2134C>A (p.Gln712Lys) c.1954C>A (p.Gln652Lys) n.2140C>A | gnomAD v4 |
| 7 | g.2538579_2538582del | CA2681476461 | BRAT1 | c.1954_1957del (p.Ala652ArgfsTer?) n.3740_3743del n.4526_4529del n.497_500del n.4660_4663del c.2134_2137del (p.Ala712ArgfsTer?) c.2218_2221del (p.Ala740ArgfsTer?) c.2215_2218del (p.Ala739ArgfsTer?) c.2188_2191del (p.Ala730ArgfsTer?) c.2038_2041del (p.Ala680ArgfsTer?) c.1693_1696del (p.Ala565ArgfsTer?) c.790_793del (p.Ala264ArgfsTer?) c.1429_1432del (p.Ala477ArgfsTer?) n.2371_2374del c.*101_*104del (n.*101_*104del) c.2131_2134del (p.Ala711ArgfsTer?) c.1951_1954del (p.Ala651ArgfsTer?) n.2137_2140del | gnomAD v4 |
| 7 | g.2538579G>A | CA453627545 | BRAT1 | c.1956C>T (p.Ala652=) n.3742C>T n.4528C>T n.499C>T n.4662C>T c.2136C>T (p.Ala712=) c.2220C>T (p.Ala740=) c.2217C>T (p.Ala739=) c.2190C>T (p.Ala730=) c.2040C>T (p.Ala680=) c.1695C>T (p.Ala565=) c.792C>T (p.Ala264=) c.1431C>T (p.Ala477=) n.2373C>T c.*103C>T (n.*103C>T) c.2133C>T (p.Ala711=) c.1953C>T (p.Ala651=) n.2139C>T | gnomAD v4 |
| 7 | g.2538579G>C | CA453627543 | BRAT1 | c.1956C>G (p.Ala652=) n.3742C>G n.4528C>G n.499C>G n.4662C>G c.2136C>G (p.Ala712=) c.2220C>G (p.Ala740=) c.2217C>G (p.Ala739=) c.2190C>G (p.Ala730=) c.2040C>G (p.Ala680=) c.1695C>G (p.Ala565=) c.792C>G (p.Ala264=) c.1431C>G (p.Ala477=) n.2373C>G c.*103C>G (n.*103C>G) c.2133C>G (p.Ala711=) c.1953C>G (p.Ala651=) n.2139C>G | |
| 7 | g.2538579G>T | CA453627544 | BRAT1 | c.1956C>A (p.Ala652=) n.3742C>A n.4528C>A n.499C>A n.4662C>A c.2136C>A (p.Ala712=) c.2220C>A (p.Ala740=) c.2217C>A (p.Ala739=) c.2190C>A (p.Ala730=) c.2040C>A (p.Ala680=) c.1695C>A (p.Ala565=) c.792C>A (p.Ala264=) c.1431C>A (p.Ala477=) n.2373C>A c.*103C>A (n.*103C>A) c.2133C>A (p.Ala711=) c.1953C>A (p.Ala651=) n.2139C>A | |
| 7 | g.2538580G>A | CA4127498 | BRAT1 | c.1955C>T (p.Ala652Val) n.3741C>T n.4527C>T n.498C>T n.4661C>T c.2135C>T (p.Ala712Val) c.2219C>T (p.Ala740Val) c.2216C>T (p.Ala739Val) c.2189C>T (p.Ala730Val) c.2039C>T (p.Ala680Val) c.1694C>T (p.Ala565Val) c.791C>T (p.Ala264Val) c.1430C>T (p.Ala477Val) n.2372C>T c.*102C>T (n.*102C>T) c.2132C>T (p.Ala711Val) c.1952C>T (p.Ala651Val) n.2138C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.2538580G>C | CA366625128 | BRAT1 | c.1955C>G (p.Ala652Gly) n.3741C>G n.4527C>G n.498C>G n.4661C>G c.2135C>G (p.Ala712Gly) c.2219C>G (p.Ala740Gly) c.2216C>G (p.Ala739Gly) c.2189C>G (p.Ala730Gly) c.2039C>G (p.Ala680Gly) c.1694C>G (p.Ala565Gly) c.791C>G (p.Ala264Gly) c.1430C>G (p.Ala477Gly) n.2372C>G c.*102C>G (n.*102C>G) c.2132C>G (p.Ala711Gly) c.1952C>G (p.Ala651Gly) n.2138C>G | |
| 7 | g.2538580G= | CA1683198552 | BRAT1 | c.1955C= (p.Ala652=) n.3741C= n.4527C= n.498C= n.4661C= c.2135C= (p.Ala712=) c.2219C= (p.Ala740=) c.2216C= (p.Ala739=) c.2189C= (p.Ala730=) c.2039C= (p.Ala680=) c.1694C= (p.Ala565=) c.791C= (p.Ala264=) c.1430C= (p.Ala477=) n.2372C= c.*102C= (n.*102C=) c.2132C= (p.Ala711=) c.1952C= (p.Ala651=) n.2138C= | |
| 7 | g.2538580G>T | CA366625129 | BRAT1 | c.1955C>A (p.Ala652Asp) n.3741C>A n.4527C>A n.498C>A n.4661C>A c.2135C>A (p.Ala712Asp) c.2219C>A (p.Ala740Asp) c.2216C>A (p.Ala739Asp) c.2189C>A (p.Ala730Asp) c.2039C>A (p.Ala680Asp) c.1694C>A (p.Ala565Asp) c.791C>A (p.Ala264Asp) c.1430C>A (p.Ala477Asp) n.2372C>A c.*102C>A (n.*102C>A) c.2132C>A (p.Ala711Asp) c.1952C>A (p.Ala651Asp) n.2138C>A | gnomAD v4 |
| 7 | g.2538581C>A | CA366625132 | BRAT1 | c.1954G>T (p.Ala652Ser) n.3740G>T n.4526G>T n.497G>T n.4660G>T c.2134G>T (p.Ala712Ser) c.2218G>T (p.Ala740Ser) c.2215G>T (p.Ala739Ser) c.2188G>T (p.Ala730Ser) c.2038G>T (p.Ala680Ser) c.1693G>T (p.Ala565Ser) c.790G>T (p.Ala264Ser) c.1429G>T (p.Ala477Ser) n.2371G>T c.*101G>T (n.*101G>T) c.2131G>T (p.Ala711Ser) c.1951G>T (p.Ala651Ser) n.2137G>T | |
| 7 | g.2538581C= | CA1683198553 | BRAT1 | c.1954G= (p.Ala652=) n.3740G= n.4526G= n.497G= n.4660G= c.2134G= (p.Ala712=) c.2218G= (p.Ala740=) c.2215G= (p.Ala739=) c.2188G= (p.Ala730=) c.2038G= (p.Ala680=) c.1693G= (p.Ala565=) c.790G= (p.Ala264=) c.1429G= (p.Ala477=) n.2371G= c.*101G= (n.*101G=) c.2131G= (p.Ala711=) c.1951G= (p.Ala651=) n.2137G= | |
| 7 | g.2538581C>G | CA366625135 | BRAT1 | c.1954G>C (p.Ala652Pro) n.3740G>C n.4526G>C n.497G>C n.4660G>C c.2134G>C (p.Ala712Pro) c.2218G>C (p.Ala740Pro) c.2215G>C (p.Ala739Pro) c.2188G>C (p.Ala730Pro) c.2038G>C (p.Ala680Pro) c.1693G>C (p.Ala565Pro) c.790G>C (p.Ala264Pro) c.1429G>C (p.Ala477Pro) n.2371G>C c.*101G>C (n.*101G>C) c.2131G>C (p.Ala711Pro) c.1951G>C (p.Ala651Pro) n.2137G>C | |
| 7 | g.2538581C>T | CA4127499 | BRAT1 | c.1954G>A (p.Ala652Thr) n.3740G>A n.4526G>A n.497G>A n.4660G>A c.2134G>A (p.Ala712Thr) c.2218G>A (p.Ala740Thr) c.2215G>A (p.Ala739Thr) c.2188G>A (p.Ala730Thr) c.2038G>A (p.Ala680Thr) c.1693G>A (p.Ala565Thr) c.790G>A (p.Ala264Thr) c.1429G>A (p.Ala477Thr) n.2371G>A c.*101G>A (n.*101G>A) c.2131G>A (p.Ala711Thr) c.1951G>A (p.Ala651Thr) n.2137G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.2538582G>A | CA4127500 | BRAT1 | c.1953C>T (p.Arg651=) n.3739C>T n.4525C>T n.496C>T n.4659C>T c.2133C>T (p.Arg711=) c.2217C>T (p.Arg739=) c.2214C>T (p.Arg738=) c.2187C>T (p.Arg729=) c.2037C>T (p.Arg679=) c.1692C>T (p.Arg564=) c.789C>T (p.Arg263=) c.1428C>T (p.Arg476=) n.2370C>T c.*100C>T (n.*100C>T) c.2130C>T (p.Arg710=) c.1950C>T (p.Arg650=) n.2136C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.2538582G>C | CA453627546 | BRAT1 | c.1953C>G (p.Arg651=) n.3739C>G n.4525C>G n.496C>G n.4659C>G c.2133C>G (p.Arg711=) c.2217C>G (p.Arg739=) c.2214C>G (p.Arg738=) c.2187C>G (p.Arg729=) c.2037C>G (p.Arg679=) c.1692C>G (p.Arg564=) c.789C>G (p.Arg263=) c.1428C>G (p.Arg476=) n.2370C>G c.*100C>G (n.*100C>G) c.2130C>G (p.Arg710=) c.1950C>G (p.Arg650=) n.2136C>G | |
| 7 | g.2538582G= | CA1683198554 | BRAT1 | c.1953C= (p.Arg651=) n.3739C= n.4525C= n.496C= n.4659C= c.2133C= (p.Arg711=) c.2217C= (p.Arg739=) c.2214C= (p.Arg738=) c.2187C= (p.Arg729=) c.2037C= (p.Arg679=) c.1692C= (p.Arg564=) c.789C= (p.Arg263=) c.1428C= (p.Arg476=) n.2370C= c.*100C= (n.*100C=) c.2130C= (p.Arg710=) c.1950C= (p.Arg650=) n.2136C= | |
| 7 | g.2538582G>T | CA453627548 | BRAT1 | c.1953C>A (p.Arg651=) n.3739C>A n.4525C>A n.496C>A n.4659C>A c.2133C>A (p.Arg711=) c.2217C>A (p.Arg739=) c.2214C>A (p.Arg738=) c.2187C>A (p.Arg729=) c.2037C>A (p.Arg679=) c.1692C>A (p.Arg564=) c.789C>A (p.Arg263=) c.1428C>A (p.Arg476=) n.2370C>A c.*100C>A (n.*100C>A) c.2130C>A (p.Arg710=) c.1950C>A (p.Arg650=) n.2136C>A | gnomAD v4 |
| 7 | g.2538583C>A | CA366625142 | BRAT1 | c.1952G>T (p.Arg651Leu) n.3738G>T n.4524G>T n.495G>T n.4658G>T c.2132G>T (p.Arg711Leu) c.2216G>T (p.Arg739Leu) c.2213G>T (p.Arg738Leu) c.2186G>T (p.Arg729Leu) c.2036G>T (p.Arg679Leu) c.1691G>T (p.Arg564Leu) c.788G>T (p.Arg263Leu) c.1427G>T (p.Arg476Leu) n.2369G>T c.*99G>T (n.*99G>T) c.2129G>T (p.Arg710Leu) c.1949G>T (p.Arg650Leu) n.2135G>T | gnomAD v4 |
| 7 | g.2538583C= | CA1683198555 | BRAT1 | c.1952G= (p.Arg651=) n.3738G= n.4524G= n.495G= n.4658G= c.2132G= (p.Arg711=) c.2216G= (p.Arg739=) c.2213G= (p.Arg738=) c.2186G= (p.Arg729=) c.2036G= (p.Arg679=) c.1691G= (p.Arg564=) c.788G= (p.Arg263=) c.1427G= (p.Arg476=) n.2369G= c.*99G= (n.*99G=) c.2129G= (p.Arg710=) c.1949G= (p.Arg650=) n.2135G= | |
| 7 | g.2538583C>G | CA366625140 | BRAT1 | c.1952G>C (p.Arg651Pro) n.3738G>C n.4524G>C n.495G>C n.4658G>C c.2132G>C (p.Arg711Pro) c.2216G>C (p.Arg739Pro) c.2213G>C (p.Arg738Pro) c.2186G>C (p.Arg729Pro) c.2036G>C (p.Arg679Pro) c.1691G>C (p.Arg564Pro) c.788G>C (p.Arg263Pro) c.1427G>C (p.Arg476Pro) n.2369G>C c.*99G>C (n.*99G>C) c.2129G>C (p.Arg710Pro) c.1949G>C (p.Arg650Pro) n.2135G>C | dbSNP |
| 7 | g.2538583C>T | CA4127501 | BRAT1 | c.1952G>A (p.Arg651His) n.3738G>A n.4524G>A n.495G>A n.4658G>A c.2132G>A (p.Arg711His) c.2216G>A (p.Arg739His) c.2213G>A (p.Arg738His) c.2186G>A (p.Arg729His) c.2036G>A (p.Arg679His) c.1691G>A (p.Arg564His) c.788G>A (p.Arg263His) c.1427G>A (p.Arg476His) n.2369G>A c.*99G>A (n.*99G>A) c.2129G>A (p.Arg710His) c.1949G>A (p.Arg650His) n.2135G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.2538584G>A | CA4127502 | BRAT1 | c.1951C>T (p.Arg651Cys) n.3737C>T n.4523C>T n.494C>T n.4657C>T c.2131C>T (p.Arg711Cys) c.2215C>T (p.Arg739Cys) c.2212C>T (p.Arg738Cys) c.2185C>T (p.Arg729Cys) c.2035C>T (p.Arg679Cys) c.1690C>T (p.Arg564Cys) c.787C>T (p.Arg263Cys) c.1426C>T (p.Arg476Cys) n.2368C>T c.*98C>T (n.*98C>T) c.2128C>T (p.Arg710Cys) c.1948C>T (p.Arg650Cys) n.2134C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.2538584G>C | CA4127503 | BRAT1 | c.1951C>G (p.Arg651Gly) n.3737C>G n.4523C>G n.494C>G n.4657C>G c.2131C>G (p.Arg711Gly) c.2215C>G (p.Arg739Gly) c.2212C>G (p.Arg738Gly) c.2185C>G (p.Arg729Gly) c.2035C>G (p.Arg679Gly) c.1690C>G (p.Arg564Gly) c.787C>G (p.Arg263Gly) c.1426C>G (p.Arg476Gly) n.2368C>G c.*98C>G (n.*98C>G) c.2128C>G (p.Arg710Gly) c.1948C>G (p.Arg650Gly) n.2134C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.2538584G= | CA1683198556 | BRAT1 | c.1951C= (p.Arg651=) n.3737C= n.4523C= n.494C= n.4657C= c.2131C= (p.Arg711=) c.2215C= (p.Arg739=) c.2212C= (p.Arg738=) c.2185C= (p.Arg729=) c.2035C= (p.Arg679=) c.1690C= (p.Arg564=) c.787C= (p.Arg263=) c.1426C= (p.Arg476=) n.2368C= c.*98C= (n.*98C=) c.2128C= (p.Arg710=) c.1948C= (p.Arg650=) n.2134C= | |
| 7 | g.2538584G>T | CA366625144 | BRAT1 | c.1951C>A (p.Arg651Ser) n.3737C>A n.4523C>A n.494C>A n.4657C>A c.2131C>A (p.Arg711Ser) c.2215C>A (p.Arg739Ser) c.2212C>A (p.Arg738Ser) c.2185C>A (p.Arg729Ser) c.2035C>A (p.Arg679Ser) c.1690C>A (p.Arg564Ser) c.787C>A (p.Arg263Ser) c.1426C>A (p.Arg476Ser) n.2368C>A c.*98C>A (n.*98C>A) c.2128C>A (p.Arg710Ser) c.1948C>A (p.Arg650Ser) n.2134C>A | gnomAD v4 |
| 7 | g.2538585G>A | CA453627551 | BRAT1 | c.1950C>T (p.Val650=) n.3736C>T n.4522C>T n.493C>T n.4656C>T c.2130C>T (p.Val710=) c.2214C>T (p.Val738=) c.2211C>T (p.Val737=) c.2184C>T (p.Val728=) c.2034C>T (p.Val678=) c.1689C>T (p.Val563=) c.786C>T (p.Val262=) c.1425C>T (p.Val475=) n.2367C>T c.*97C>T (n.*97C>T) c.2127C>T (p.Val709=) c.1947C>T (p.Val649=) n.2133C>T | ClinVar gnomAD v4 |
| 7 | g.2538585G>C | CA453627552 | BRAT1 | c.1950C>G (p.Val650=) n.3736C>G n.4522C>G n.493C>G n.4656C>G c.2130C>G (p.Val710=) c.2214C>G (p.Val738=) c.2211C>G (p.Val737=) c.2184C>G (p.Val728=) c.2034C>G (p.Val678=) c.1689C>G (p.Val563=) c.786C>G (p.Val262=) c.1425C>G (p.Val475=) n.2367C>G c.*97C>G (n.*97C>G) c.2127C>G (p.Val709=) c.1947C>G (p.Val649=) n.2133C>G | |
| 7 | g.2538585G>T | CA453627554 | BRAT1 | c.1950C>A (p.Val650=) n.3736C>A n.4522C>A n.493C>A n.4656C>A c.2130C>A (p.Val710=) c.2214C>A (p.Val738=) c.2211C>A (p.Val737=) c.2184C>A (p.Val728=) c.2034C>A (p.Val678=) c.1689C>A (p.Val563=) c.786C>A (p.Val262=) c.1425C>A (p.Val475=) n.2367C>A c.*97C>A (n.*97C>A) c.2127C>A (p.Val709=) c.1947C>A (p.Val649=) n.2133C>A | gnomAD v4 |
| 7 | g.2538586A>C | CA366625146 | BRAT1 | c.1949T>G (p.Val650Gly) n.3735T>G n.4521T>G n.492T>G n.4655T>G c.2129T>G (p.Val710Gly) c.2213T>G (p.Val738Gly) c.2210T>G (p.Val737Gly) c.2183T>G (p.Val728Gly) c.2033T>G (p.Val678Gly) c.1688T>G (p.Val563Gly) c.785T>G (p.Val262Gly) c.1424T>G (p.Val475Gly) n.2366T>G c.*96T>G (n.*96T>G) c.2126T>G (p.Val709Gly) c.1946T>G (p.Val649Gly) n.2132T>G | |
| 7 | g.2538586A>G | CA366625149 | BRAT1 | c.1949T>C (p.Val650Ala) n.3735T>C n.4521T>C n.492T>C n.4655T>C c.2129T>C (p.Val710Ala) c.2213T>C (p.Val738Ala) c.2210T>C (p.Val737Ala) c.2183T>C (p.Val728Ala) c.2033T>C (p.Val678Ala) c.1688T>C (p.Val563Ala) c.785T>C (p.Val262Ala) c.1424T>C (p.Val475Ala) n.2366T>C c.*96T>C (n.*96T>C) c.2126T>C (p.Val709Ala) c.1946T>C (p.Val649Ala) n.2132T>C | dbSNP |
| 7 | g.2538586A>T | CA366625150 | BRAT1 | c.1949T>A (p.Val650Asp) n.3735T>A n.4521T>A n.492T>A n.4655T>A c.2129T>A (p.Val710Asp) c.2213T>A (p.Val738Asp) c.2210T>A (p.Val737Asp) c.2183T>A (p.Val728Asp) c.2033T>A (p.Val678Asp) c.1688T>A (p.Val563Asp) c.785T>A (p.Val262Asp) c.1424T>A (p.Val475Asp) n.2366T>A c.*96T>A (n.*96T>A) c.2126T>A (p.Val709Asp) c.1946T>A (p.Val649Asp) n.2132T>A | gnomAD v4 |
| 7 | g.2538587C>A | CA366625152 | BRAT1 | c.1948G>T (p.Val650Phe) n.3734G>T n.4520G>T n.491G>T n.4654G>T c.2128G>T (p.Val710Phe) c.2212G>T (p.Val738Phe) c.2209G>T (p.Val737Phe) c.2182G>T (p.Val728Phe) c.2032G>T (p.Val678Phe) c.1687G>T (p.Val563Phe) c.784G>T (p.Val262Phe) c.1423G>T (p.Val475Phe) n.2365G>T c.*95G>T (n.*95G>T) c.2125G>T (p.Val709Phe) c.1945G>T (p.Val649Phe) n.2131G>T | |
| 7 | g.2538587C>G | CA366625154 | BRAT1 | c.1948G>C (p.Val650Leu) n.3734G>C n.4520G>C n.491G>C n.4654G>C c.2128G>C (p.Val710Leu) c.2212G>C (p.Val738Leu) c.2209G>C (p.Val737Leu) c.2182G>C (p.Val728Leu) c.2032G>C (p.Val678Leu) c.1687G>C (p.Val563Leu) c.784G>C (p.Val262Leu) c.1423G>C (p.Val475Leu) n.2365G>C c.*95G>C (n.*95G>C) c.2125G>C (p.Val709Leu) c.1945G>C (p.Val649Leu) n.2131G>C | |
| 7 | g.2538587C>T | CA366625156 | BRAT1 | c.1948G>A (p.Val650Ile) n.3734G>A n.4520G>A n.491G>A n.4654G>A c.2128G>A (p.Val710Ile) c.2212G>A (p.Val738Ile) c.2209G>A (p.Val737Ile) c.2182G>A (p.Val728Ile) c.2032G>A (p.Val678Ile) c.1687G>A (p.Val563Ile) c.784G>A (p.Val262Ile) c.1423G>A (p.Val475Ile) n.2365G>A c.*95G>A (n.*95G>A) c.2125G>A (p.Val709Ile) c.1945G>A (p.Val649Ile) n.2131G>A | |
| 7 | g.2538588C>A | CA366625157 | BRAT1 | c.1947G>T (p.Glu649Asp) n.3733G>T n.4519G>T n.490G>T n.4653G>T c.2127G>T (p.Glu709Asp) c.2211G>T (p.Glu737Asp) c.2208G>T (p.Glu736Asp) c.2181G>T (p.Glu727Asp) c.2031G>T (p.Glu677Asp) c.1686G>T (p.Glu562Asp) c.783G>T (p.Glu261Asp) c.1422G>T (p.Glu474Asp) n.2364G>T c.*94G>T (n.*94G>T) c.2124G>T (p.Glu708Asp) c.1944G>T (p.Glu648Asp) n.2130G>T | gnomAD v4 |
| 7 | g.2538588C= | CA1683198557 | BRAT1 | c.1947G= (p.Glu649=) n.3733G= n.4519G= n.490G= n.4653G= c.2127G= (p.Glu709=) c.2211G= (p.Glu737=) c.2208G= (p.Glu736=) c.2181G= (p.Glu727=) c.2031G= (p.Glu677=) c.1686G= (p.Glu562=) c.783G= (p.Glu261=) c.1422G= (p.Glu474=) n.2364G= c.*94G= (n.*94G=) c.2124G= (p.Glu708=) c.1944G= (p.Glu648=) n.2130G= | |
| 7 | g.2538588C>G | CA4127504 | BRAT1 | c.1947G>C (p.Glu649Asp) n.3733G>C n.4519G>C n.490G>C n.4653G>C c.2127G>C (p.Glu709Asp) c.2211G>C (p.Glu737Asp) c.2208G>C (p.Glu736Asp) c.2181G>C (p.Glu727Asp) c.2031G>C (p.Glu677Asp) c.1686G>C (p.Glu562Asp) c.783G>C (p.Glu261Asp) c.1422G>C (p.Glu474Asp) n.2364G>C c.*94G>C (n.*94G>C) c.2124G>C (p.Glu708Asp) c.1944G>C (p.Glu648Asp) n.2130G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.2538588C>T | CA453627557 | BRAT1 | c.1947G>A (p.Glu649=) n.3733G>A n.4519G>A n.490G>A n.4653G>A c.2127G>A (p.Glu709=) c.2211G>A (p.Glu737=) c.2208G>A (p.Glu736=) c.2181G>A (p.Glu727=) c.2031G>A (p.Glu677=) c.1686G>A (p.Glu562=) c.783G>A (p.Glu261=) c.1422G>A (p.Glu474=) n.2364G>A c.*94G>A (n.*94G>A) c.2124G>A (p.Glu708=) c.1944G>A (p.Glu648=) n.2130G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.2538589T>A | CA366625163 | BRAT1 | c.1946A>T (p.Glu649Val) n.3732A>T n.4518A>T n.489A>T n.4652A>T c.2126A>T (p.Glu709Val) c.2210A>T (p.Glu737Val) c.2207A>T (p.Glu736Val) c.2180A>T (p.Glu727Val) c.2030A>T (p.Glu677Val) c.1685A>T (p.Glu562Val) c.782A>T (p.Glu261Val) c.1421A>T (p.Glu474Val) n.2363A>T c.*93A>T (n.*93A>T) c.2123A>T (p.Glu708Val) c.1943A>T (p.Glu648Val) n.2129A>T | |
| 7 | g.2538589T>C | CA366625161 | BRAT1 | c.1946A>G (p.Glu649Gly) n.3732A>G n.4518A>G n.489A>G n.4652A>G c.2126A>G (p.Glu709Gly) c.2210A>G (p.Glu737Gly) c.2207A>G (p.Glu736Gly) c.2180A>G (p.Glu727Gly) c.2030A>G (p.Glu677Gly) c.1685A>G (p.Glu562Gly) c.782A>G (p.Glu261Gly) c.1421A>G (p.Glu474Gly) n.2363A>G c.*93A>G (n.*93A>G) c.2123A>G (p.Glu708Gly) c.1943A>G (p.Glu648Gly) n.2129A>G | gnomAD v4 |
| 7 | g.2538589T>G | CA366625160 | BRAT1 | c.1946A>C (p.Glu649Ala) n.3732A>C n.4518A>C n.489A>C n.4652A>C c.2126A>C (p.Glu709Ala) c.2210A>C (p.Glu737Ala) c.2207A>C (p.Glu736Ala) c.2180A>C (p.Glu727Ala) c.2030A>C (p.Glu677Ala) c.1685A>C (p.Glu562Ala) c.782A>C (p.Glu261Ala) c.1421A>C (p.Glu474Ala) n.2363A>C c.*93A>C (n.*93A>C) c.2123A>C (p.Glu708Ala) c.1943A>C (p.Glu648Ala) n.2129A>C | gnomAD v4 |
| 7 | g.2538590C>A | CA366625165 | BRAT1 | c.1945G>T (p.Glu649Ter) n.3731G>T n.4517G>T n.488G>T n.4651G>T c.2125G>T (p.Glu709Ter) c.2209G>T (p.Glu737Ter) c.2206G>T (p.Glu736Ter) c.2179G>T (p.Glu727Ter) c.2029G>T (p.Glu677Ter) c.1684G>T (p.Glu562Ter) c.781G>T (p.Glu261Ter) c.1420G>T (p.Glu474Ter) n.2362G>T c.*92G>T (n.*92G>T) c.2122G>T (p.Glu708Ter) c.1942G>T (p.Glu648Ter) n.2128G>T | |
| 7 | g.2538590C= | CA1683198558 | BRAT1 | c.1945G= (p.Glu649=) n.3731G= n.4517G= n.488G= n.4651G= c.2125G= (p.Glu709=) c.2209G= (p.Glu737=) c.2206G= (p.Glu736=) c.2179G= (p.Glu727=) c.2029G= (p.Glu677=) c.1684G= (p.Glu562=) c.781G= (p.Glu261=) c.1420G= (p.Glu474=) n.2362G= c.*92G= (n.*92G=) c.2122G= (p.Glu708=) c.1942G= (p.Glu648=) n.2128G= | |
| 7 | g.2538590C>G | CA4127505 | BRAT1 | c.1945G>C (p.Glu649Gln) n.3731G>C n.4517G>C n.488G>C n.4651G>C c.2125G>C (p.Glu709Gln) c.2209G>C (p.Glu737Gln) c.2206G>C (p.Glu736Gln) c.2179G>C (p.Glu727Gln) c.2029G>C (p.Glu677Gln) c.1684G>C (p.Glu562Gln) c.781G>C (p.Glu261Gln) c.1420G>C (p.Glu474Gln) n.2362G>C c.*92G>C (n.*92G>C) c.2122G>C (p.Glu708Gln) c.1942G>C (p.Glu648Gln) n.2128G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |