Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32370402_32380145del | CA2581463483 | BRCA2 | c.8332_9256del c.8332_*623del c.7963_8887del c.8332_*818del c.8332_9205del c.799_1672del c.8340_9264del c.897_2134del c.8236_9160del | |
13 | g.32378158_32383530del | CA2580087446 | BRCA2 | c.8755-1159_9256+3385del c.*122-1159_*623+3385del c.8386-1159_8887+3385del c.*317-1159_*818+3385del c.8755-1159_9257-363del c.8755-1159_9205+3385del c.1222-1159_1672+3385del n.882-1159_1383+3385del c.8763-1159_9264+3385del c.1633-1159_2134+3385del c.8659-1159_9160+3385del | ClinVar |
13 | g.32378942_32380826del | CA10602552 | BRCA2 | c.8755-375_9256+681del c.*122-375_*623+681del c.8386-375_8887+681del c.*317-375_*818+681del c.8755-375_9205+681del c.1222-375_1672+681del n.882-375_1383+681del c.8763-375_9264+681del c.1633-375_2134+681del c.8659-375_9160+681del | ClinVar |
13 | g.32380043C>A | CA483262052 | BRCA2 | c.9154C>A (p.Arg3052=) c.*521C>A (n.*521C>A) c.8785C>A (p.Arg2929=) c.*716C>A (n.*716C>A) c.9103C>A (p.Arg3035=) c.1570C>A (p.Arg524=) n.1281C>A c.9162C>A (n.9162C>A) c.2032C>A c.37C>A (p.Arg13=) c.111C>A c.9058C>A (p.Arg3020=) | dbSNP |
13 | g.32380043C= | CA2082840300 | BRCA2 | c.9154C= (p.Arg3052=) c.*521C= (n.*521C=) c.8785C= (p.Arg2929=) c.*716C= (n.*716C=) c.9103C= (p.Arg3035=) c.1570C= (p.Arg524=) n.1281C= c.9162C= (n.9162C=) c.2032C= c.37C= (p.Arg13=) c.111C= c.9058C= (p.Arg3020=) | |
13 | g.32380043C>G | CA387757925 | BRCA2 | c.9154C>G (p.Arg3052Gly) c.*521C>G (n.*521C>G) c.8785C>G (p.Arg2929Gly) c.*716C>G (n.*716C>G) c.9103C>G (p.Arg3035Gly) c.1570C>G (p.Arg524Gly) n.1281C>G c.9162C>G (n.9162C>G) c.2032C>G c.37C>G (p.Arg13Gly) c.111C>G c.9058C>G (p.Arg3020Gly) | ClinVar dbSNP |
13 | g.32380043C>T | CA026006 | BRCA2 | c.9154C>T (p.Arg3052Trp) c.*521C>T (n.*521C>T) c.8785C>T (p.Arg2929Trp) c.*716C>T (n.*716C>T) c.9103C>T (p.Arg3035Trp) c.1570C>T (p.Arg524Trp) n.1281C>T c.9162C>T (n.9162C>T) c.2032C>T c.37C>T (p.Arg13Trp) c.111C>T c.9058C>T (p.Arg3020Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32380043_32380044delinsCG | CA2082840287 | BRCA2 | c.9154_9155delinsCG (p.Arg3052=) c.*521_*522delinsCG (n.*521_*522delinsCG) c.8785_8786delinsCG (p.Arg2929=) c.*716_*717delinsCG (n.*716_*717delinsCG) c.9103_9104delinsCG (p.Arg3035=) c.1570_1571delinsCG (p.Arg524=) n.1281_1282delinsCG c.9162_9163delinsCG (n.9162_9163delinsCG) c.2032_2033delinsCG c.37_38delinsCG (p.Arg13=) c.111_112delinsCG c.9058_9059delinsCG (p.Arg3020=) | |
13 | g.32380044G>A | CA026007 | BRCA2 | c.9155G>A (p.Arg3052Gln) c.*522G>A (n.*522G>A) c.8786G>A (p.Arg2929Gln) c.*717G>A (n.*717G>A) c.9104G>A (p.Arg3035Gln) c.1571G>A (p.Arg524Gln) n.1282G>A c.9163G>A (n.9163G>A) c.2033G>A c.38G>A (p.Arg13Gln) c.112G>A c.9059G>A (p.Arg3020Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32380044G>C | CA387757932 | BRCA2 | c.9155G>C (p.Arg3052Pro) c.*522G>C (n.*522G>C) c.8786G>C (p.Arg2929Pro) c.*717G>C (n.*717G>C) c.9104G>C (p.Arg3035Pro) c.1571G>C (p.Arg524Pro) n.1282G>C c.9163G>C (n.9163G>C) c.2033G>C c.38G>C (p.Arg13Pro) c.112G>C c.9059G>C (p.Arg3020Pro) | dbSNP |
13 | g.32380044G= | CA2082840306 | BRCA2 | c.9155G= (p.Arg3052=) c.*522G= (n.*522G=) c.8786G= (p.Arg2929=) c.*717G= (n.*717G=) c.9104G= (p.Arg3035=) c.1571G= (p.Arg524=) n.1282G= c.9163G= (n.9163G=) c.2033G= c.38G= (p.Arg13=) c.112G= c.9059G= (p.Arg3020=) | |
13 | g.32380044G>T | CA387757934 | BRCA2 | c.9155G>T (p.Arg3052Leu) c.*522G>T (n.*522G>T) c.8786G>T (p.Arg2929Leu) c.*717G>T (n.*717G>T) c.9104G>T (p.Arg3035Leu) c.1571G>T (p.Arg524Leu) n.1282G>T c.9163G>T (n.9163G>T) c.2033G>T c.38G>T (p.Arg13Leu) c.112G>T c.9059G>T (p.Arg3020Leu) | ClinVar dbSNP |
13 | g.32380046del | CA026008 | BRCA2 | c.9157del (p.Glu3053SerfsTer9) c.*524del (n.*524del) c.8788del (p.Glu2930SerfsTer9) c.*719del (n.*719del) c.9106del (p.Glu3036SerfsTer9) c.1573del (p.Glu525SerfsTer9) n.1284del c.9165del (n.9165del) c.2035del c.40del (p.Glu14SerfsTer9) c.114del c.9061del (p.Glu3021SerfsTer9) | ClinVar dbSNP gnomAD v4 |
13 | g.32380045G>A | CA483262054 | BRCA2 | c.9156G>A (p.Arg3052=) c.*523G>A (n.*523G>A) c.8787G>A (p.Arg2929=) c.*718G>A (n.*718G>A) c.9105G>A (p.Arg3035=) c.1572G>A (p.Arg524=) n.1283G>A c.9164G>A (n.9164G>A) c.2034G>A c.39G>A (p.Arg13=) c.113G>A c.9060G>A (p.Arg3020=) | dbSNP gnomAD v4 |
13 | g.32380045G>C | CA483262055 | BRCA2 | c.9156G>C (p.Arg3052=) c.*523G>C (n.*523G>C) c.8787G>C (p.Arg2929=) c.*718G>C (n.*718G>C) c.9105G>C (p.Arg3035=) c.1572G>C (p.Arg524=) n.1283G>C c.9164G>C (n.9164G>C) c.2034G>C c.39G>C (p.Arg13=) c.113G>C c.9060G>C (p.Arg3020=) | dbSNP |
13 | g.32380045G>T | CA483262056 | BRCA2 | c.9156G>T (p.Arg3052=) c.*523G>T (n.*523G>T) c.8787G>T (p.Arg2929=) c.*718G>T (n.*718G>T) c.9105G>T (p.Arg3035=) c.1572G>T (p.Arg524=) n.1283G>T c.9164G>T (n.9164G>T) c.2034G>T c.39G>T (p.Arg13=) c.113G>T c.9060G>T (p.Arg3020=) | dbSNP |
13 | g.32380046G>A | CA387757944 | BRCA2 | c.9157G>A (p.Glu3053Lys) c.*524G>A (n.*524G>A) c.8788G>A (p.Glu2930Lys) c.*719G>A (n.*719G>A) c.9106G>A (p.Glu3036Lys) c.1573G>A (p.Glu525Lys) n.1284G>A c.9165G>A (n.9165G>A) c.2035G>A c.40G>A (p.Glu14Lys) c.114G>A c.9061G>A (p.Glu3021Lys) | dbSNP |
13 | g.32380046G>C | CA387757945 | BRCA2 | c.9157G>C (p.Glu3053Gln) c.*524G>C (n.*524G>C) c.8788G>C (p.Glu2930Gln) c.*719G>C (n.*719G>C) c.9106G>C (p.Glu3036Gln) c.1573G>C (p.Glu525Gln) n.1284G>C c.9165G>C (n.9165G>C) c.2035G>C c.40G>C (p.Glu14Gln) c.114G>C c.9061G>C (p.Glu3021Gln) | ClinVar dbSNP |
13 | g.32380046G>T | CA387757938 | BRCA2 | c.9157G>T (p.Glu3053Ter) c.*524G>T (n.*524G>T) c.8788G>T (p.Glu2930Ter) c.*719G>T (n.*719G>T) c.9106G>T (p.Glu3036Ter) c.1573G>T (p.Glu525Ter) n.1284G>T c.9165G>T (n.9165G>T) c.2035G>T c.40G>T (p.Glu14Ter) c.114G>T c.9061G>T (p.Glu3021Ter) | dbSNP |
13 | g.32380047A>C | CA387757947 | BRCA2 | c.9158A>C (p.Glu3053Ala) c.*525A>C (n.*525A>C) c.8789A>C (p.Glu2930Ala) c.*720A>C (n.*720A>C) c.9107A>C (p.Glu3036Ala) c.1574A>C (p.Glu525Ala) n.1285A>C c.9166A>C (n.9166A>C) c.2036A>C c.41A>C (p.Glu14Ala) c.115A>C c.9062A>C (p.Glu3021Ala) | |
13 | g.32380047A>G | CA387757948 | BRCA2 | c.9158A>G (p.Glu3053Gly) c.*525A>G (n.*525A>G) c.8789A>G (p.Glu2930Gly) c.*720A>G (n.*720A>G) c.9107A>G (p.Glu3036Gly) c.1574A>G (p.Glu525Gly) n.1285A>G c.9166A>G (n.9166A>G) c.2036A>G c.41A>G (p.Glu14Gly) c.115A>G c.9062A>G (p.Glu3021Gly) | ClinVar dbSNP |
13 | g.32380047A>T | CA387757952 | BRCA2 | c.9158A>T (p.Glu3053Val) c.*525A>T (n.*525A>T) c.8789A>T (p.Glu2930Val) c.*720A>T (n.*720A>T) c.9107A>T (p.Glu3036Val) c.1574A>T (p.Glu525Val) n.1285A>T c.9166A>T (n.9166A>T) c.2036A>T c.41A>T (p.Glu14Val) c.115A>T c.9062A>T (p.Glu3021Val) | dbSNP |
13 | g.32380048G>A | CA483262057 | BRCA2 | c.9159G>A (p.Glu3053=) c.*526G>A (n.*526G>A) c.8790G>A (p.Glu2930=) c.*721G>A (n.*721G>A) c.9108G>A (p.Glu3036=) c.1575G>A (p.Glu525=) n.1286G>A c.9167G>A (n.9167G>A) c.2037G>A c.42G>A (p.Glu14=) c.116G>A c.9063G>A (p.Glu3021=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32380048G>C | CA387757953 | BRCA2 | c.9159G>C (p.Glu3053Asp) c.*526G>C (n.*526G>C) c.8790G>C (p.Glu2930Asp) c.*721G>C (n.*721G>C) c.9108G>C (p.Glu3036Asp) c.1575G>C (p.Glu525Asp) n.1286G>C c.9167G>C (n.9167G>C) c.2037G>C c.42G>C (p.Glu14Asp) c.116G>C c.9063G>C (p.Glu3021Asp) | ClinVar dbSNP |
13 | g.32380048G= | CA2082840320 | BRCA2 | c.9159G= (p.Glu3053=) c.*526G= (n.*526G=) c.8790G= (p.Glu2930=) c.*721G= (n.*721G=) c.9108G= (p.Glu3036=) c.1575G= (p.Glu525=) n.1286G= c.9167G= (n.9167G=) c.2037G= c.42G= (p.Glu14=) c.116G= c.9063G= (p.Glu3021=) | |
13 | g.32380048G>T | CA387757955 | BRCA2 | c.9159G>T (p.Glu3053Asp) c.*526G>T (n.*526G>T) c.8790G>T (p.Glu2930Asp) c.*721G>T (n.*721G>T) c.9108G>T (p.Glu3036Asp) c.1575G>T (p.Glu525Asp) n.1286G>T c.9167G>T (n.9167G>T) c.2037G>T c.42G>T (p.Glu14Asp) c.116G>T c.9063G>T (p.Glu3021Asp) | ClinVar dbSNP |
13 | g.32380048_32380049delinsGC | CA2082840333 | BRCA2 | c.9159_9160delinsGC (p.Glu3053=) c.*526_*527delinsGC (n.*526_*527delinsGC) c.8790_8791delinsGC (p.Glu2930=) c.*721_*722delinsGC (n.*721_*722delinsGC) c.9108_9109delinsGC (p.Glu3036=) c.1575_1576delinsGC (p.Glu525=) n.1286_1287delinsGC c.9167_9168delinsGC (n.9167_9168delinsGC) c.2037_2038delinsGC c.42_43delinsGC (p.Glu14=) c.116_117delinsGC c.9063_9064delinsGC (p.Glu3021=) | |
13 | g.32380049C>A | CA387757956 | BRCA2 | c.9160C>A (p.Pro3054Thr) c.*527C>A (n.*527C>A) c.8791C>A (p.Pro2931Thr) c.*722C>A (n.*722C>A) c.9109C>A (p.Pro3037Thr) c.1576C>A (p.Pro526Thr) n.1287C>A c.9168C>A (n.9168C>A) c.2038C>A c.43C>A (p.Pro15Thr) c.117C>A c.9064C>A (p.Pro3022Thr) | dbSNP |
13 | g.32380049C= | CA2082840342 | BRCA2 | c.9160C= (p.Pro3054=) c.*527C= (n.*527C=) c.8791C= (p.Pro2931=) c.*722C= (n.*722C=) c.9109C= (p.Pro3037=) c.1576C= (p.Pro526=) n.1287C= c.9168C= (n.9168C=) c.2038C= c.43C= (p.Pro15=) c.117C= c.9064C= (p.Pro3022=) | |
13 | g.32380049C>G | CA387757957 | BRCA2 | c.9160C>G (p.Pro3054Ala) c.*527C>G (n.*527C>G) c.8791C>G (p.Pro2931Ala) c.*722C>G (n.*722C>G) c.9109C>G (p.Pro3037Ala) c.1576C>G (p.Pro526Ala) n.1287C>G c.9168C>G (n.9168C>G) c.2038C>G c.43C>G (p.Pro15Ala) c.117C>G c.9064C>G (p.Pro3022Ala) | ClinVar dbSNP |
13 | g.32380049C>T | CA026009 | BRCA2 | c.9160C>T (p.Pro3054Ser) c.*527C>T (n.*527C>T) c.8791C>T (p.Pro2931Ser) c.*722C>T (n.*722C>T) c.9109C>T (p.Pro3037Ser) c.1576C>T (p.Pro526Ser) n.1287C>T c.9168C>T (n.9168C>T) c.2038C>T c.43C>T (p.Pro15Ser) c.117C>T c.9064C>T (p.Pro3022Ser) | ClinVar dbSNP |
13 | g.32380049_32380050delinsGT | CA2580087504 | BRCA2 | c.9160_9161delinsGT (p.Pro3054Val) c.*527_*528delinsGT (n.*527_*528delinsGT) c.8791_8792delinsGT (p.Pro2931Val) c.*722_*723delinsGT (n.*722_*723delinsGT) c.9109_9110delinsGT (p.Pro3037Val) c.1576_1577delinsGT (p.Pro526Val) n.1287_1288delinsGT c.9168_9169delinsGT (n.9168_9169delinsGT) c.2038_2039delinsGT c.43_44delinsGT (p.Pro15Val) c.117_118delinsGT c.9064_9065delinsGT (p.Pro3022Val) | ClinVar |
13 | g.32380052del | CA2082840347 | BRCA2 | c.9163del (p.Leu3055PhefsTer7) c.*530del (n.*530del) c.8794del (p.Leu2932PhefsTer7) c.*725del (n.*725del) c.9112del (p.Leu3038PhefsTer7) c.1579del (p.Leu527PhefsTer7) n.1290del c.9171del (n.9171del) c.2041del c.46del (p.Leu16PhefsTer7) c.120del c.9067del (p.Leu3023PhefsTer7) | ClinVar dbSNP |
13 | g.32380050C>A | CA026010 | BRCA2 | c.9161C>A (p.Pro3054His) c.*528C>A (n.*528C>A) c.8792C>A (p.Pro2931His) c.*723C>A (n.*723C>A) c.9110C>A (p.Pro3037His) c.1577C>A (p.Pro526His) n.1288C>A c.9169C>A (n.9169C>A) c.2039C>A c.44C>A (p.Pro15His) c.118C>A c.9065C>A (p.Pro3022His) | ClinVar dbSNP gnomAD v4 |
13 | g.32380050C= | CA2082840356 | BRCA2 | c.9161C= (p.Pro3054=) c.*528C= (n.*528C=) c.8792C= (p.Pro2931=) c.*723C= (n.*723C=) c.9110C= (p.Pro3037=) c.1577C= (p.Pro526=) n.1288C= c.9169C= (n.9169C=) c.2039C= c.44C= (p.Pro15=) c.118C= c.9065C= (p.Pro3022=) | |
13 | g.32380050C>G | CA387757962 | BRCA2 | c.9161C>G (p.Pro3054Arg) c.*528C>G (n.*528C>G) c.8792C>G (p.Pro2931Arg) c.*723C>G (n.*723C>G) c.9110C>G (p.Pro3037Arg) c.1577C>G (p.Pro526Arg) n.1288C>G c.9169C>G (n.9169C>G) c.2039C>G c.44C>G (p.Pro15Arg) c.118C>G c.9065C>G (p.Pro3022Arg) | ClinVar dbSNP |
13 | g.32380050C>T | CA026011 | BRCA2 | c.9161C>T (p.Pro3054Leu) c.*528C>T (n.*528C>T) c.8792C>T (p.Pro2931Leu) c.*723C>T (n.*723C>T) c.9110C>T (p.Pro3037Leu) c.1577C>T (p.Pro526Leu) n.1288C>T c.9169C>T (n.9169C>T) c.2039C>T c.44C>T (p.Pro15Leu) c.118C>T c.9065C>T (p.Pro3022Leu) | ClinVar dbSNP gnomAD v4 |
13 | g.32380051C>A | CA483262059 | BRCA2 | c.9162C>A (p.Pro3054=) c.*529C>A (n.*529C>A) c.8793C>A (p.Pro2931=) c.*724C>A (n.*724C>A) c.9111C>A (p.Pro3037=) c.1578C>A (p.Pro526=) n.1289C>A c.9170C>A (n.9170C>A) c.2040C>A c.45C>A (p.Pro15=) c.119C>A c.9066C>A (p.Pro3022=) | dbSNP |
13 | g.32380051C= | CA2082840377 | BRCA2 | c.9162C= (p.Pro3054=) c.*529C= (n.*529C=) c.8793C= (p.Pro2931=) c.*724C= (n.*724C=) c.9111C= (p.Pro3037=) c.1578C= (p.Pro526=) n.1289C= c.9170C= (n.9170C=) c.2040C= c.45C= (p.Pro15=) c.119C= c.9066C= (p.Pro3022=) | |
13 | g.32380051C>G | CA6941350 | BRCA2 | c.9162C>G (p.Pro3054=) c.*529C>G (n.*529C>G) c.8793C>G (p.Pro2931=) c.*724C>G (n.*724C>G) c.9111C>G (p.Pro3037=) c.1578C>G (p.Pro526=) n.1289C>G c.9170C>G (n.9170C>G) c.2040C>G c.45C>G (p.Pro15=) c.119C>G c.9066C>G (p.Pro3022=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32380051C>T | CA483262060 | BRCA2 | c.9162C>T (p.Pro3054=) c.*529C>T (n.*529C>T) c.8793C>T (p.Pro2931=) c.*724C>T (n.*724C>T) c.9111C>T (p.Pro3037=) c.1578C>T (p.Pro526=) n.1289C>T c.9170C>T (n.9170C>T) c.2040C>T c.45C>T (p.Pro15=) c.119C>T c.9066C>T (p.Pro3022=) | ClinVar dbSNP gnomAD v4 |
13 | g.32380052C>A | CA387757970 | BRCA2 | c.9163C>A (p.Leu3055Ile) c.*530C>A (n.*530C>A) c.8794C>A (p.Leu2932Ile) c.*725C>A (n.*725C>A) c.9112C>A (p.Leu3038Ile) c.1579C>A (p.Leu527Ile) n.1290C>A c.9171C>A (n.9171C>A) c.2041C>A c.46C>A (p.Leu16Ile) c.120C>A c.9067C>A (p.Leu3023Ile) | ClinVar dbSNP |
13 | g.32380052C>G | CA387757966 | BRCA2 | c.9163C>G (p.Leu3055Val) c.*530C>G (n.*530C>G) c.8794C>G (p.Leu2932Val) c.*725C>G (n.*725C>G) c.9112C>G (p.Leu3038Val) c.1579C>G (p.Leu527Val) n.1290C>G c.9171C>G (n.9171C>G) c.2041C>G c.46C>G (p.Leu16Val) c.120C>G c.9067C>G (p.Leu3023Val) | dbSNP |
13 | g.32380052C>T | CA387757968 | BRCA2 | c.9163C>T (p.Leu3055Phe) c.*530C>T (n.*530C>T) c.8794C>T (p.Leu2932Phe) c.*725C>T (n.*725C>T) c.9112C>T (p.Leu3038Phe) c.1579C>T (p.Leu527Phe) n.1290C>T c.9171C>T (n.9171C>T) c.2041C>T c.46C>T (p.Leu16Phe) c.120C>T c.9067C>T (p.Leu3023Phe) | dbSNP |
13 | g.32380053T>A | CA387757972 | BRCA2 | c.9164T>A (p.Leu3055His) c.*531T>A (n.*531T>A) c.8795T>A (p.Leu2932His) c.*726T>A (n.*726T>A) c.9113T>A (p.Leu3038His) c.1580T>A (p.Leu527His) n.1291T>A c.9172T>A (n.9172T>A) c.2042T>A c.47T>A (p.Leu16His) c.121T>A c.9068T>A (p.Leu3023His) | dbSNP |
13 | g.32380053T>C | CA387757973 | BRCA2 | c.9164T>C (p.Leu3055Pro) c.*531T>C (n.*531T>C) c.8795T>C (p.Leu2932Pro) c.*726T>C (n.*726T>C) c.9113T>C (p.Leu3038Pro) c.1580T>C (p.Leu527Pro) n.1291T>C c.9172T>C (n.9172T>C) c.2042T>C c.47T>C (p.Leu16Pro) c.121T>C c.9068T>C (p.Leu3023Pro) | dbSNP |
13 | g.32380053T>G | CA387757975 | BRCA2 | c.9164T>G (p.Leu3055Arg) c.*531T>G (n.*531T>G) c.8795T>G (p.Leu2932Arg) c.*726T>G (n.*726T>G) c.9113T>G (p.Leu3038Arg) c.1580T>G (p.Leu527Arg) n.1291T>G c.9172T>G (n.9172T>G) c.2042T>G c.47T>G (p.Leu16Arg) c.121T>G c.9068T>G (p.Leu3023Arg) | |
13 | g.32380054T>A | CA483262063 | BRCA2 | c.9165T>A (p.Leu3055=) c.*532T>A (n.*532T>A) c.8796T>A (p.Leu2932=) c.*727T>A (n.*727T>A) c.9114T>A (p.Leu3038=) c.1581T>A (p.Leu527=) n.1292T>A c.9173T>A (n.9173T>A) c.2043T>A c.48T>A (p.Leu16=) c.122T>A c.9069T>A (p.Leu3023=) | dbSNP |
13 | g.32380054T>C | CA483262062 | BRCA2 | c.9165T>C (p.Leu3055=) c.*532T>C (n.*532T>C) c.8796T>C (p.Leu2932=) c.*727T>C (n.*727T>C) c.9114T>C (p.Leu3038=) c.1581T>C (p.Leu527=) n.1292T>C c.9173T>C (n.9173T>C) c.2043T>C c.48T>C (p.Leu16=) c.122T>C c.9069T>C (p.Leu3023=) | |
13 | g.32380054T>G | CA483262061 | BRCA2 | c.9165T>G (p.Leu3055=) c.*532T>G (n.*532T>G) c.8796T>G (p.Leu2932=) c.*727T>G (n.*727T>G) c.9114T>G (p.Leu3038=) c.1581T>G (p.Leu527=) n.1292T>G c.9173T>G (n.9173T>G) c.2043T>G c.48T>G (p.Leu16=) c.122T>G c.9069T>G (p.Leu3023=) | |
13 | g.32380055C>A | CA387757978 | BRCA2 | c.9166C>A (p.His3056Asn) c.*533C>A (n.*533C>A) c.8797C>A (p.His2933Asn) c.*728C>A (n.*728C>A) c.9115C>A (p.His3039Asn) c.1582C>A (p.His528Asn) n.1293C>A c.9174C>A (n.9174C>A) c.2044C>A c.49C>A (p.His17Asn) c.123C>A c.9070C>A (p.His3024Asn) | dbSNP |
13 | g.32380055C= | CA2082840388 | BRCA2 | c.9166C= (p.His3056=) c.*533C= (n.*533C=) c.8797C= (p.His2933=) c.*728C= (n.*728C=) c.9115C= (p.His3039=) c.1582C= (p.His528=) n.1293C= c.9174C= (n.9174C=) c.2044C= c.49C= (p.His17=) c.123C= c.9070C= (p.His3024=) | |
13 | g.32380055C>G | CA387757981 | BRCA2 | c.9166C>G (p.His3056Asp) c.*533C>G (n.*533C>G) c.8797C>G (p.His2933Asp) c.*728C>G (n.*728C>G) c.9115C>G (p.His3039Asp) c.1582C>G (p.His528Asp) n.1293C>G c.9174C>G (n.9174C>G) c.2044C>G c.49C>G (p.His17Asp) c.123C>G c.9070C>G (p.His3024Asp) | dbSNP |
13 | g.32380055C>T | CA387757982 | BRCA2 | c.9166C>T (p.His3056Tyr) c.*533C>T (n.*533C>T) c.8797C>T (p.His2933Tyr) c.*728C>T (n.*728C>T) c.9115C>T (p.His3039Tyr) c.1582C>T (p.His528Tyr) n.1293C>T c.9174C>T (n.9174C>T) c.2044C>T c.49C>T (p.His17Tyr) c.123C>T c.9070C>T (p.His3024Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32380056A= | CA2082840403 | BRCA2 | c.9167A= (p.His3056=) c.*534A= (n.*534A=) c.8798A= (p.His2933=) c.*729A= (n.*729A=) c.9116A= (p.His3039=) c.1583A= (p.His528=) n.1294A= c.9175A= (n.9175A=) c.2045A= c.50A= (p.His17=) c.124A= c.9071A= (p.His3024=) | |
13 | g.32380056A>C | CA387757984 | BRCA2 | c.9167A>C (p.His3056Pro) c.*534A>C (n.*534A>C) c.8798A>C (p.His2933Pro) c.*729A>C (n.*729A>C) c.9116A>C (p.His3039Pro) c.1583A>C (p.His528Pro) n.1294A>C c.9175A>C (n.9175A>C) c.2045A>C c.50A>C (p.His17Pro) c.124A>C c.9071A>C (p.His3024Pro) | ClinVar dbSNP |
13 | g.32380056A>G | CA387757986 | BRCA2 | c.9167A>G (p.His3056Arg) c.*534A>G (n.*534A>G) c.8798A>G (p.His2933Arg) c.*729A>G (n.*729A>G) c.9116A>G (p.His3039Arg) c.1583A>G (p.His528Arg) n.1294A>G c.9175A>G (n.9175A>G) c.2045A>G c.50A>G (p.His17Arg) c.124A>G c.9071A>G (p.His3024Arg) | dbSNP gnomAD v4 |
13 | g.32380056A>T | CA026012 | BRCA2 | c.9167A>T (p.His3056Leu) c.*534A>T (n.*534A>T) c.8798A>T (p.His2933Leu) c.*729A>T (n.*729A>T) c.9116A>T (p.His3039Leu) c.1583A>T (p.His528Leu) n.1294A>T c.9175A>T (n.9175A>T) c.2045A>T c.50A>T (p.His17Leu) c.124A>T c.9071A>T (p.His3024Leu) | ClinVar dbSNP |
13 | g.32380057C>A | CA387757989 | BRCA2 | c.9168C>A (p.His3056Gln) c.*535C>A (n.*535C>A) c.8799C>A (p.His2933Gln) c.*730C>A (n.*730C>A) c.9117C>A (p.His3039Gln) c.1584C>A (p.His528Gln) n.1295C>A c.9176C>A (n.9176C>A) c.2046C>A c.51C>A (p.His17Gln) c.125C>A c.9072C>A (p.His3024Gln) | |
13 | g.32380057C= | CA2082840418 | BRCA2 | c.9168C= (p.His3056=) c.*535C= (n.*535C=) c.8799C= (p.His2933=) c.*730C= (n.*730C=) c.9117C= (p.His3039=) c.1584C= (p.His528=) n.1295C= c.9176C= (n.9176C=) c.2046C= c.51C= (p.His17=) c.125C= c.9072C= (p.His3024=) | |
13 | g.32380057C>G | CA10577495 | BRCA2 | c.9168C>G (p.His3056Gln) c.*535C>G (n.*535C>G) c.8799C>G (p.His2933Gln) c.*730C>G (n.*730C>G) c.9117C>G (p.His3039Gln) c.1584C>G (p.His528Gln) n.1295C>G c.9176C>G (n.9176C>G) c.2046C>G c.51C>G (p.His17Gln) c.125C>G c.9072C>G (p.His3024Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32380057C>T | CA483262065 | BRCA2 | c.9168C>T (p.His3056=) c.*535C>T (n.*535C>T) c.8799C>T (p.His2933=) c.*730C>T (n.*730C>T) c.9117C>T (p.His3039=) c.1584C>T (p.His528=) n.1295C>T c.9176C>T (n.9176C>T) c.2046C>T c.51C>T (p.His17=) c.125C>T c.9072C>T (p.His3024=) | ClinVar dbSNP gnomAD v4 |
13 | g.32380058T>A | CA387757995 | BRCA2 | c.9169T>A (p.Phe3057Ile) c.*536T>A (n.*536T>A) c.8800T>A (p.Phe2934Ile) c.*731T>A (n.*731T>A) c.9118T>A (p.Phe3040Ile) c.1585T>A (p.Phe529Ile) n.1296T>A c.9177T>A (n.9177T>A) c.2047T>A c.52T>A (p.Phe18Ile) c.126T>A c.9073T>A (p.Phe3025Ile) | dbSNP COSMIC COSMIC |
13 | g.32380058T>C | CA387757994 | BRCA2 | c.9169T>C (p.Phe3057Leu) c.*536T>C (n.*536T>C) c.8800T>C (p.Phe2934Leu) c.*731T>C (n.*731T>C) c.9118T>C (p.Phe3040Leu) c.1585T>C (p.Phe529Leu) n.1296T>C c.9177T>C (n.9177T>C) c.2047T>C c.52T>C (p.Phe18Leu) c.126T>C c.9073T>C (p.Phe3025Leu) | |
13 | g.32380058T>G | CA026013 | BRCA2 | c.9169T>G (p.Phe3057Val) c.*536T>G (n.*536T>G) c.8800T>G (p.Phe2934Val) c.*731T>G (n.*731T>G) c.9118T>G (p.Phe3040Val) c.1585T>G (p.Phe529Val) n.1296T>G c.9177T>G (n.9177T>G) c.2047T>G c.52T>G (p.Phe18Val) c.126T>G c.9073T>G (p.Phe3025Val) | ClinVar dbSNP |
13 | g.32380058T= | CA2082840430 | BRCA2 | c.9169T= (p.Phe3057=) c.*536T= (n.*536T=) c.8800T= (p.Phe2934=) c.*731T= (n.*731T=) c.9118T= (p.Phe3040=) c.1585T= (p.Phe529=) n.1296T= c.9177T= (n.9177T=) c.2047T= c.52T= (p.Phe18=) c.126T= c.9073T= (p.Phe3025=) | |
13 | g.32380059T>A | CA387757997 | BRCA2 | c.9170T>A (p.Phe3057Tyr) c.*537T>A (n.*537T>A) c.8801T>A (p.Phe2934Tyr) c.*732T>A (n.*732T>A) c.9119T>A (p.Phe3040Tyr) c.1586T>A (p.Phe529Tyr) n.1297T>A c.9178T>A (n.9178T>A) c.2048T>A c.53T>A (p.Phe18Tyr) c.127T>A c.9074T>A (p.Phe3025Tyr) | dbSNP |
13 | g.32380059T>C | CA387757998 | BRCA2 | c.9170T>C (p.Phe3057Ser) c.*537T>C (n.*537T>C) c.8801T>C (p.Phe2934Ser) c.*732T>C (n.*732T>C) c.9119T>C (p.Phe3040Ser) c.1586T>C (p.Phe529Ser) n.1297T>C c.9178T>C (n.9178T>C) c.2048T>C c.53T>C (p.Phe18Ser) c.127T>C c.9074T>C (p.Phe3025Ser) | |
13 | g.32380059T>G | CA387757999 | BRCA2 | c.9170T>G (p.Phe3057Cys) c.*537T>G (n.*537T>G) c.8801T>G (p.Phe2934Cys) c.*732T>G (n.*732T>G) c.9119T>G (p.Phe3040Cys) c.1586T>G (p.Phe529Cys) n.1297T>G c.9178T>G (n.9178T>G) c.2048T>G c.53T>G (p.Phe18Cys) c.127T>G c.9074T>G (p.Phe3025Cys) | ClinVar dbSNP |
13 | g.32380060C>A | CA387758000 | BRCA2 | c.9171C>A (p.Phe3057Leu) c.*538C>A (n.*538C>A) c.8802C>A (p.Phe2934Leu) c.*733C>A (n.*733C>A) c.9120C>A (p.Phe3040Leu) c.1587C>A (p.Phe529Leu) n.1298C>A c.9179C>A (n.9179C>A) c.2049C>A c.54C>A (p.Phe18Leu) c.128C>A c.9075C>A (p.Phe3025Leu) | dbSNP |
13 | g.32380060C= | CA2082840439 | BRCA2 | c.9171C= (p.Phe3057=) c.*538C= (n.*538C=) c.8802C= (p.Phe2934=) c.*733C= (n.*733C=) c.9120C= (p.Phe3040=) c.1587C= (p.Phe529=) n.1298C= c.9179C= (n.9179C=) c.2049C= c.54C= (p.Phe18=) c.128C= c.9075C= (p.Phe3025=) | |
13 | g.32380060C>G | CA026014 | BRCA2 | c.9171C>G (p.Phe3057Leu) c.*538C>G (n.*538C>G) c.8802C>G (p.Phe2934Leu) c.*733C>G (n.*733C>G) c.9120C>G (p.Phe3040Leu) c.1587C>G (p.Phe529Leu) n.1298C>G c.9179C>G (n.9179C>G) c.2049C>G c.54C>G (p.Phe18Leu) c.128C>G c.9075C>G (p.Phe3025Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32380060C>T | CA483262066 | BRCA2 | c.9171C>T (p.Phe3057=) c.*538C>T (n.*538C>T) c.8802C>T (p.Phe2934=) c.*733C>T (n.*733C>T) c.9120C>T (p.Phe3040=) c.1587C>T (p.Phe529=) n.1298C>T c.9179C>T (n.9179C>T) c.2049C>T c.54C>T (p.Phe18=) c.128C>T c.9075C>T (p.Phe3025=) | dbSNP |
13 | g.32380061A= | CA2082840454 | BRCA2 | c.9172A= (p.Ser3058=) c.*539A= (n.*539A=) c.8803A= (p.Ser2935=) c.*734A= (n.*734A=) c.9121A= (p.Ser3041=) c.1588A= (p.Ser530=) n.1299A= c.9180A= (n.9180A=) c.2050A= c.55A= (p.Ser19=) c.129A= c.9076A= (p.Ser3026=) | |
13 | g.32380061A>C | CA387758001 | BRCA2 | c.9172A>C (p.Ser3058Arg) c.*539A>C (n.*539A>C) c.8803A>C (p.Ser2935Arg) c.*734A>C (n.*734A>C) c.9121A>C (p.Ser3041Arg) c.1588A>C (p.Ser530Arg) n.1299A>C c.9180A>C (n.9180A>C) c.2050A>C c.55A>C (p.Ser19Arg) c.129A>C c.9076A>C (p.Ser3026Arg) | |
13 | g.32380061A>G | CA026015 | BRCA2 | c.9172A>G (p.Ser3058Gly) c.*539A>G (n.*539A>G) c.8803A>G (p.Ser2935Gly) c.*734A>G (n.*734A>G) c.9121A>G (p.Ser3041Gly) c.1588A>G (p.Ser530Gly) n.1299A>G c.9180A>G (n.9180A>G) c.2050A>G c.55A>G (p.Ser19Gly) c.129A>G c.9076A>G (p.Ser3026Gly) | ClinVar dbSNP |
13 | g.32380061A>T | CA387758004 | BRCA2 | c.9172A>T (p.Ser3058Cys) c.*539A>T (n.*539A>T) c.8803A>T (p.Ser2935Cys) c.*734A>T (n.*734A>T) c.9121A>T (p.Ser3041Cys) c.1588A>T (p.Ser530Cys) n.1299A>T c.9180A>T (n.9180A>T) c.2050A>T c.55A>T (p.Ser19Cys) c.129A>T c.9076A>T (p.Ser3026Cys) | dbSNP |
13 | g.32380062G>A | CA387758014 | BRCA2 | c.9173G>A (p.Ser3058Asn) c.*540G>A (n.*540G>A) c.8804G>A (p.Ser2935Asn) c.*735G>A (n.*735G>A) c.9122G>A (p.Ser3041Asn) c.1589G>A (p.Ser530Asn) n.1300G>A c.9181G>A (n.9181G>A) c.2051G>A c.56G>A (p.Ser19Asn) c.130G>A c.9077G>A (p.Ser3026Asn) | ClinVar dbSNP |
13 | g.32380062G>C | CA387758016 | BRCA2 | c.9173G>C (p.Ser3058Thr) c.*540G>C (n.*540G>C) c.8804G>C (p.Ser2935Thr) c.*735G>C (n.*735G>C) c.9122G>C (p.Ser3041Thr) c.1589G>C (p.Ser530Thr) n.1300G>C c.9181G>C (n.9181G>C) c.2051G>C c.56G>C (p.Ser19Thr) c.130G>C c.9077G>C (p.Ser3026Thr) | dbSNP |
13 | g.32380062G>T | CA387758017 | BRCA2 | c.9173G>T (p.Ser3058Ile) c.*540G>T (n.*540G>T) c.8804G>T (p.Ser2935Ile) c.*735G>T (n.*735G>T) c.9122G>T (p.Ser3041Ile) c.1589G>T (p.Ser530Ile) n.1300G>T c.9181G>T (n.9181G>T) c.2051G>T c.56G>T (p.Ser19Ile) c.130G>T c.9077G>T (p.Ser3026Ile) | dbSNP |
13 | g.32380063C>A | CA387758018 | BRCA2 | c.9174C>A (p.Ser3058Arg) c.*541C>A (n.*541C>A) c.8805C>A (p.Ser2935Arg) c.*736C>A (n.*736C>A) c.9123C>A (p.Ser3041Arg) c.1590C>A (p.Ser530Arg) n.1301C>A c.9182C>A (n.9182C>A) c.2052C>A c.57C>A (p.Ser19Arg) c.131C>A c.9078C>A (p.Ser3026Arg) | dbSNP gnomAD v4 |
13 | g.32380063C>G | CA387758019 | BRCA2 | c.9174C>G (p.Ser3058Arg) c.*541C>G (n.*541C>G) c.8805C>G (p.Ser2935Arg) c.*736C>G (n.*736C>G) c.9123C>G (p.Ser3041Arg) c.1590C>G (p.Ser530Arg) n.1301C>G c.9182C>G (n.9182C>G) c.2052C>G c.57C>G (p.Ser19Arg) c.131C>G c.9078C>G (p.Ser3026Arg) | dbSNP |
13 | g.32380063C>T | CA483262070 | BRCA2 | c.9174C>T (p.Ser3058=) c.*541C>T (n.*541C>T) c.8805C>T (p.Ser2935=) c.*736C>T (n.*736C>T) c.9123C>T (p.Ser3041=) c.1590C>T (p.Ser530=) n.1301C>T c.9182C>T (n.9182C>T) c.2052C>T c.57C>T (p.Ser19=) c.131C>T c.9078C>T (p.Ser3026=) | ClinVar dbSNP gnomAD v4 |
13 | g.32380063_32380064delinsCA | CA2082840461 | BRCA2 | c.9174_9175delinsCA (p.Ser3058=) c.*541_*542delinsCA (n.*541_*542delinsCA) c.8805_8806delinsCA (p.Ser2935=) c.*736_*737delinsCA (n.*736_*737delinsCA) c.9123_9124delinsCA (p.Ser3041=) c.1590_1591delinsCA (p.Ser530=) n.1301_1302delinsCA c.9182_9183delinsCA (n.9182_9183delinsCA) c.2052_2053delinsCA c.57_58delinsCA (p.Ser19=) c.131_132delinsCA c.9078_9079delinsCA (p.Ser3026=) | |
13 | g.32380064A= | CA2082840476 | BRCA2 | c.9175A= (p.Lys3059=) c.*542A= (n.*542A=) c.8806A= (p.Lys2936=) c.*737A= (n.*737A=) c.9124A= (p.Lys3042=) c.1591A= (p.Lys531=) n.1302A= c.9183A= (n.9183A=) c.2053A= c.58A= (p.Lys20=) c.132A= c.9079A= (p.Lys3027=) | |
13 | g.32380064A>C | CA387758021 | BRCA2 | c.9175A>C (p.Lys3059Gln) c.*542A>C (n.*542A>C) c.8806A>C (p.Lys2936Gln) c.*737A>C (n.*737A>C) c.9124A>C (p.Lys3042Gln) c.1591A>C (p.Lys531Gln) n.1302A>C c.9183A>C (n.9183A>C) c.2053A>C c.58A>C (p.Lys20Gln) c.132A>C c.9079A>C (p.Lys3027Gln) | |
13 | g.32380064A>G | CA026016 | BRCA2 | c.9175A>G (p.Lys3059Glu) c.*542A>G (n.*542A>G) c.8806A>G (p.Lys2936Glu) c.*737A>G (n.*737A>G) c.9124A>G (p.Lys3042Glu) c.1591A>G (p.Lys531Glu) n.1302A>G c.9183A>G (n.9183A>G) c.2053A>G c.58A>G (p.Lys20Glu) c.132A>G c.9079A>G (p.Lys3027Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32380064A>T | CA387758020 | BRCA2 | c.9175A>T (p.Lys3059Ter) c.*542A>T (n.*542A>T) c.8806A>T (p.Lys2936Ter) c.*737A>T (n.*737A>T) c.9124A>T (p.Lys3042Ter) c.1591A>T (p.Lys531Ter) n.1302A>T c.9183A>T (n.9183A>T) c.2053A>T c.58A>T (p.Lys20Ter) c.132A>T c.9079A>T (p.Lys3027Ter) | dbSNP |
13 | g.32380066dup | CA1139663166 | BRCA2 | c.9177dup (p.Phe3060IlefsTer12) c.*544dup (n.*544dup) c.8808dup (p.Phe2937IlefsTer12) c.*739dup (n.*739dup) c.9126dup (p.Phe3043IlefsTer12) c.1593dup (p.Phe532IlefsTer12) n.1304dup c.9185dup (n.9185dup) c.2055dup c.60dup (p.Phe21IlefsTer12) c.134dup c.9081dup (p.Phe3028IlefsTer12) | ClinVar dbSNP |
13 | g.32380066del | CA026018 | BRCA2 | c.9177del (p.Lys3059AsnfsTer3) c.*544del (n.*544del) c.8808del (p.Lys2936AsnfsTer3) c.*739del (n.*739del) c.9126del (p.Lys3042AsnfsTer3) c.1593del (p.Lys531AsnfsTer3) n.1304del c.9185del (n.9185del) c.2055del c.60del (p.Lys20AsnfsTer3) c.134del c.9081del (p.Lys3027AsnfsTer3) | ClinVar dbSNP |
13 | g.32380065A= | CA2082840493 | BRCA2 | c.9176A= (p.Lys3059=) c.*543A= (n.*543A=) c.8807A= (p.Lys2936=) c.*738A= (n.*738A=) c.9125A= (p.Lys3042=) c.1592A= (p.Lys531=) n.1303A= c.9184A= (n.9184A=) c.2054A= c.59A= (p.Lys20=) c.133A= c.9080A= (p.Lys3027=) | |
13 | g.32380065A>C | CA387758024 | BRCA2 | c.9176A>C (p.Lys3059Thr) c.*543A>C (n.*543A>C) c.8807A>C (p.Lys2936Thr) c.*738A>C (n.*738A>C) c.9125A>C (p.Lys3042Thr) c.1592A>C (p.Lys531Thr) n.1303A>C c.9184A>C (n.9184A>C) c.2054A>C c.59A>C (p.Lys20Thr) c.133A>C c.9080A>C (p.Lys3027Thr) | |
13 | g.32380065A>G | CA387758027 | BRCA2 | c.9176A>G (p.Lys3059Arg) c.*543A>G (n.*543A>G) c.8807A>G (p.Lys2936Arg) c.*738A>G (n.*738A>G) c.9125A>G (p.Lys3042Arg) c.1592A>G (p.Lys531Arg) n.1303A>G c.9184A>G (n.9184A>G) c.2054A>G c.59A>G (p.Lys20Arg) c.133A>G c.9080A>G (p.Lys3027Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32380065A>T | CA387758030 | BRCA2 | c.9176A>T (p.Lys3059Ile) c.*543A>T (n.*543A>T) c.8807A>T (p.Lys2936Ile) c.*738A>T (n.*738A>T) c.9125A>T (p.Lys3042Ile) c.1592A>T (p.Lys531Ile) n.1303A>T c.9184A>T (n.9184A>T) c.2054A>T c.59A>T (p.Lys20Ile) c.133A>T c.9080A>T (p.Lys3027Ile) | dbSNP |
13 | g.32380066A= | CA2082840507 | BRCA2 | c.9177A= (p.Lys3059=) c.*544A= (n.*544A=) c.8808A= (p.Lys2936=) c.*739A= (n.*739A=) c.9126A= (p.Lys3042=) c.1593A= (p.Lys531=) n.1304A= c.9185A= (n.9185A=) c.2055A= c.60A= (p.Lys20=) c.134A= c.9081A= (p.Lys3027=) | |
13 | g.32380066A>C | CA026017 | BRCA2 | c.9177A>C (p.Lys3059Asn) c.*544A>C (n.*544A>C) c.8808A>C (p.Lys2936Asn) c.*739A>C (n.*739A>C) c.9126A>C (p.Lys3042Asn) c.1593A>C (p.Lys531Asn) n.1304A>C c.9185A>C (n.9185A>C) c.2055A>C c.60A>C (p.Lys20Asn) c.134A>C c.9081A>C (p.Lys3027Asn) | ClinVar dbSNP gnomAD v4 |
13 | g.32380066A>G | CA6941351 | BRCA2 | c.9177A>G (p.Lys3059=) c.*544A>G (n.*544A>G) c.8808A>G (p.Lys2936=) c.*739A>G (n.*739A>G) c.9126A>G (p.Lys3042=) c.1593A>G (p.Lys531=) n.1304A>G c.9185A>G (n.9185A>G) c.2055A>G c.60A>G (p.Lys20=) c.134A>G c.9081A>G (p.Lys3027=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32380066A>T | CA387758049 | BRCA2 | c.9177A>T (p.Lys3059Asn) c.*544A>T (n.*544A>T) c.8808A>T (p.Lys2936Asn) c.*739A>T (n.*739A>T) c.9126A>T (p.Lys3042Asn) c.1593A>T (p.Lys531Asn) n.1304A>T c.9185A>T (n.9185A>T) c.2055A>T c.60A>T (p.Lys20Asn) c.134A>T c.9081A>T (p.Lys3027Asn) | |
13 | g.32380067T>A | CA387758054 | BRCA2 | c.9178T>A (p.Phe3060Ile) c.*545T>A (n.*545T>A) c.8809T>A (p.Phe2937Ile) c.*740T>A (n.*740T>A) c.9127T>A (p.Phe3043Ile) c.1594T>A (p.Phe532Ile) n.1305T>A c.9186T>A (n.9186T>A) c.2056T>A c.61T>A (p.Phe21Ile) c.135T>A c.9082T>A (p.Phe3028Ile) | dbSNP |
13 | g.32380067T>C | CA387758055 | BRCA2 | c.9178T>C (p.Phe3060Leu) c.*545T>C (n.*545T>C) c.8809T>C (p.Phe2937Leu) c.*740T>C (n.*740T>C) c.9127T>C (p.Phe3043Leu) c.1594T>C (p.Phe532Leu) n.1305T>C c.9186T>C (n.9186T>C) c.2056T>C c.61T>C (p.Phe21Leu) c.135T>C c.9082T>C (p.Phe3028Leu) | gnomAD v4 |
13 | g.32380067T>G | CA387758056 | BRCA2 | c.9178T>G (p.Phe3060Val) c.*545T>G (n.*545T>G) c.8809T>G (p.Phe2937Val) c.*740T>G (n.*740T>G) c.9127T>G (p.Phe3043Val) c.1594T>G (p.Phe532Val) n.1305T>G c.9186T>G (n.9186T>G) c.2056T>G c.61T>G (p.Phe21Val) c.135T>G c.9082T>G (p.Phe3028Val) | |
13 | g.32380068T>A | CA387758057 | BRCA2 | c.9179T>A (p.Phe3060Tyr) c.*546T>A (n.*546T>A) c.8810T>A (p.Phe2937Tyr) c.*741T>A (n.*741T>A) c.9128T>A (p.Phe3043Tyr) c.1595T>A (p.Phe532Tyr) n.1306T>A c.9187T>A (n.9187T>A) c.2057T>A c.62T>A (p.Phe21Tyr) c.136T>A c.9083T>A (p.Phe3028Tyr) | ClinVar dbSNP |
13 | g.32380068T>C | CA387758058 | BRCA2 | c.9179T>C (p.Phe3060Ser) c.*546T>C (n.*546T>C) c.8810T>C (p.Phe2937Ser) c.*741T>C (n.*741T>C) c.9128T>C (p.Phe3043Ser) c.1595T>C (p.Phe532Ser) n.1306T>C c.9187T>C (n.9187T>C) c.2057T>C c.62T>C (p.Phe21Ser) c.136T>C c.9083T>C (p.Phe3028Ser) | |
13 | g.32380068T>G | CA10579813 | BRCA2 | c.9179T>G (p.Phe3060Cys) c.*546T>G (n.*546T>G) c.8810T>G (p.Phe2937Cys) c.*741T>G (n.*741T>G) c.9128T>G (p.Phe3043Cys) c.1595T>G (p.Phe532Cys) n.1306T>G c.9187T>G (n.9187T>G) c.2057T>G c.62T>G (p.Phe21Cys) c.136T>G c.9083T>G (p.Phe3028Cys) | ClinVar dbSNP |
13 | g.32380068T= | CA2082840522 | BRCA2 | c.9179T= (p.Phe3060=) c.*546T= (n.*546T=) c.8810T= (p.Phe2937=) c.*741T= (n.*741T=) c.9128T= (p.Phe3043=) c.1595T= (p.Phe532=) n.1306T= c.9187T= (n.9187T=) c.2057T= c.62T= (p.Phe21=) c.136T= c.9083T= (p.Phe3028=) | |
13 | g.32380069T>A | CA387758061 | BRCA2 | c.9180T>A (p.Phe3060Leu) c.*547T>A (n.*547T>A) c.8811T>A (p.Phe2937Leu) c.*742T>A (n.*742T>A) c.9129T>A (p.Phe3043Leu) c.1596T>A (p.Phe532Leu) n.1307T>A c.9188T>A (n.9188T>A) c.2058T>A c.63T>A (p.Phe21Leu) c.137T>A c.9084T>A (p.Phe3028Leu) | dbSNP |
13 | g.32380069T>C | CA6941352 | BRCA2 | c.9180T>C (p.Phe3060=) c.*547T>C (n.*547T>C) c.8811T>C (p.Phe2937=) c.*742T>C (n.*742T>C) c.9129T>C (p.Phe3043=) c.1596T>C (p.Phe532=) n.1307T>C c.9188T>C (n.9188T>C) c.2058T>C c.63T>C (p.Phe21=) c.137T>C c.9084T>C (p.Phe3028=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32380069T>G | CA387758066 | BRCA2 | c.9180T>G (p.Phe3060Leu) c.*547T>G (n.*547T>G) c.8811T>G (p.Phe2937Leu) c.*742T>G (n.*742T>G) c.9129T>G (p.Phe3043Leu) c.1596T>G (p.Phe532Leu) n.1307T>G c.9188T>G (n.9188T>G) c.2058T>G c.63T>G (p.Phe21Leu) c.137T>G c.9084T>G (p.Phe3028Leu) | ClinVar |
13 | g.32380069T= | CA2082840558 | BRCA2 | c.9180T= (p.Phe3060=) c.*547T= (n.*547T=) c.8811T= (p.Phe2937=) c.*742T= (n.*742T=) c.9129T= (p.Phe3043=) c.1596T= (p.Phe532=) n.1307T= c.9188T= (n.9188T=) c.2058T= c.63T= (p.Phe21=) c.137T= c.9084T= (p.Phe3028=) | |
13 | g.32380070T>A | CA387758079 | BRCA2 | c.9181T>A (p.Leu3061Ile) c.*548T>A (n.*548T>A) c.8812T>A (p.Leu2938Ile) c.*743T>A (n.*743T>A) c.9130T>A (p.Leu3044Ile) c.1597T>A (p.Leu533Ile) n.1308T>A c.9189T>A (n.9189T>A) c.2059T>A c.64T>A (p.Leu22Ile) c.138T>A c.9085T>A (p.Leu3029Ile) | ClinVar dbSNP |
13 | g.32380070T>C | CA483262076 | BRCA2 | c.9181T>C (p.Leu3061=) c.*548T>C (n.*548T>C) c.8812T>C (p.Leu2938=) c.*743T>C (n.*743T>C) c.9130T>C (p.Leu3044=) c.1597T>C (p.Leu533=) n.1308T>C c.9189T>C (n.9189T>C) c.2059T>C c.64T>C (p.Leu22=) c.138T>C c.9085T>C (p.Leu3029=) | |
13 | g.32380070T>G | CA387758081 | BRCA2 | c.9181T>G (p.Leu3061Val) c.*548T>G (n.*548T>G) c.8812T>G (p.Leu2938Val) c.*743T>G (n.*743T>G) c.9130T>G (p.Leu3044Val) c.1597T>G (p.Leu533Val) n.1308T>G c.9189T>G (n.9189T>G) c.2059T>G c.64T>G (p.Leu22Val) c.138T>G c.9085T>G (p.Leu3029Val) | |
13 | g.32380071T>A | CA026019 | BRCA2 | c.9182T>A (p.Leu3061Ter) c.*549T>A (n.*549T>A) c.8813T>A (p.Leu2938Ter) c.*744T>A (n.*744T>A) c.9131T>A (p.Leu3044Ter) c.1598T>A (p.Leu533Ter) n.1309T>A c.9190T>A (n.9190T>A) c.2060T>A c.65T>A (p.Leu22Ter) c.139T>A c.9086T>A (p.Leu3029Ter) | ClinVar dbSNP |
13 | g.32380071T>C | CA387758085 | BRCA2 | c.9182T>C (p.Leu3061Ser) c.*549T>C (n.*549T>C) c.8813T>C (p.Leu2938Ser) c.*744T>C (n.*744T>C) c.9131T>C (p.Leu3044Ser) c.1598T>C (p.Leu533Ser) n.1309T>C c.9190T>C (n.9190T>C) c.2060T>C c.65T>C (p.Leu22Ser) c.139T>C c.9086T>C (p.Leu3029Ser) | dbSNP |
13 | g.32380071T>G | CA10589552 | BRCA2 | c.9182T>G (p.Leu3061Ter) c.*549T>G (n.*549T>G) c.8813T>G (p.Leu2938Ter) c.*744T>G (n.*744T>G) c.9131T>G (p.Leu3044Ter) c.1598T>G (p.Leu533Ter) n.1309T>G c.9190T>G (n.9190T>G) c.2060T>G c.65T>G (p.Leu22Ter) c.139T>G c.9086T>G (p.Leu3029Ter) | ClinVar dbSNP |
13 | g.32380071T= | CA2082840563 | BRCA2 | c.9182T= (p.Leu3061=) c.*549T= (n.*549T=) c.8813T= (p.Leu2938=) c.*744T= (n.*744T=) c.9131T= (p.Leu3044=) c.1598T= (p.Leu533=) n.1309T= c.9190T= (n.9190T=) c.2060T= c.65T= (p.Leu22=) c.139T= c.9086T= (p.Leu3029=) | |
13 | g.32380072A= | CA2082840574 | BRCA2 | c.9183A= (p.Leu3061=) c.*550A= (n.*550A=) c.8814A= (p.Leu2938=) c.*745A= (n.*745A=) c.9132A= (p.Leu3044=) c.1599A= (p.Leu533=) n.1310A= c.9191A= (n.9191A=) c.2061A= c.66A= (p.Leu22=) c.140A= c.9087A= (p.Leu3029=) | |
13 | g.32380072A>C | CA387758090 | BRCA2 | c.9183A>C (p.Leu3061Phe) c.*550A>C (n.*550A>C) c.8814A>C (p.Leu2938Phe) c.*745A>C (n.*745A>C) c.9132A>C (p.Leu3044Phe) c.1599A>C (p.Leu533Phe) n.1310A>C c.9191A>C (n.9191A>C) c.2061A>C c.66A>C (p.Leu22Phe) c.140A>C c.9087A>C (p.Leu3029Phe) | |
13 | g.32380072A>G | CA483262077 | BRCA2 | c.9183A>G (p.Leu3061=) c.*550A>G (n.*550A>G) c.8814A>G (p.Leu2938=) c.*745A>G (n.*745A>G) c.9132A>G (p.Leu3044=) c.1599A>G (p.Leu533=) n.1310A>G c.9191A>G (n.9191A>G) c.2061A>G c.66A>G (p.Leu22=) c.140A>G c.9087A>G (p.Leu3029=) | ClinVar dbSNP |
13 | g.32380072A>T | CA387758092 | BRCA2 | c.9183A>T (p.Leu3061Phe) c.*550A>T (n.*550A>T) c.8814A>T (p.Leu2938Phe) c.*745A>T (n.*745A>T) c.9132A>T (p.Leu3044Phe) c.1599A>T (p.Leu533Phe) n.1310A>T c.9191A>T (n.9191A>T) c.2061A>T c.66A>T (p.Leu22Phe) c.140A>T c.9087A>T (p.Leu3029Phe) | dbSNP |
13 | g.32380072dup | CA658653815 | BRCA2 | c.9183dup (p.Asp3062ArgfsTer10) c.*550dup (n.*550dup) c.8814dup (p.Asp2939ArgfsTer10) c.*745dup (n.*745dup) c.9132dup (p.Asp3045ArgfsTer10) c.1599dup (p.Asp534ArgfsTer10) n.1310dup c.9191dup (n.9191dup) c.2061dup c.66dup (p.Asp23ArgfsTer10) c.140dup c.9087dup (p.Asp3030ArgfsTer10) | ClinVar dbSNP |
13 | g.32380073G>A | CA387758093 | BRCA2 | c.9184G>A (p.Asp3062Asn) c.*551G>A (n.*551G>A) c.8815G>A (p.Asp2939Asn) c.*746G>A (n.*746G>A) c.9133G>A (p.Asp3045Asn) c.1600G>A (p.Asp534Asn) n.1311G>A c.9192G>A (n.9192G>A) c.2062G>A c.67G>A (p.Asp23Asn) c.141G>A c.9088G>A (p.Asp3030Asn) | ClinVar dbSNP |
13 | g.32380073G>C | CA387758094 | BRCA2 | c.9184G>C (p.Asp3062His) c.*551G>C (n.*551G>C) c.8815G>C (p.Asp2939His) c.*746G>C (n.*746G>C) c.9133G>C (p.Asp3045His) c.1600G>C (p.Asp534His) n.1311G>C c.9192G>C (n.9192G>C) c.2062G>C c.67G>C (p.Asp23His) c.141G>C c.9088G>C (p.Asp3030His) | ClinVar dbSNP |
13 | g.32380073G= | CA2082840587 | BRCA2 | c.9184G= (p.Asp3062=) c.*551G= (n.*551G=) c.8815G= (p.Asp2939=) c.*746G= (n.*746G=) c.9133G= (p.Asp3045=) c.1600G= (p.Asp534=) n.1311G= c.9192G= (n.9192G=) c.2062G= c.67G= (p.Asp23=) c.141G= c.9088G= (p.Asp3030=) | |
13 | g.32380073G>T | CA387758095 | BRCA2 | c.9184G>T (p.Asp3062Tyr) c.*551G>T (n.*551G>T) c.8815G>T (p.Asp2939Tyr) c.*746G>T (n.*746G>T) c.9133G>T (p.Asp3045Tyr) c.1600G>T (p.Asp534Tyr) n.1311G>T c.9192G>T (n.9192G>T) c.2062G>T c.67G>T (p.Asp23Tyr) c.141G>T c.9088G>T (p.Asp3030Tyr) | dbSNP |
13 | g.32380074A>C | CA387758102 | BRCA2 | c.9185A>C (p.Asp3062Ala) c.*552A>C (n.*552A>C) c.8816A>C (p.Asp2939Ala) c.*747A>C (n.*747A>C) c.9134A>C (p.Asp3045Ala) c.1601A>C (p.Asp534Ala) n.1312A>C c.9193A>C (n.9193A>C) c.2063A>C c.68A>C (p.Asp23Ala) c.142A>C c.9089A>C (p.Asp3030Ala) | dbSNP |
13 | g.32380074A>G | CA387758104 | BRCA2 | c.9185A>G (p.Asp3062Gly) c.*552A>G (n.*552A>G) c.8816A>G (p.Asp2939Gly) c.*747A>G (n.*747A>G) c.9134A>G (p.Asp3045Gly) c.1601A>G (p.Asp534Gly) n.1312A>G c.9193A>G (n.9193A>G) c.2063A>G c.68A>G (p.Asp23Gly) c.142A>G c.9089A>G (p.Asp3030Gly) | ClinVar |
13 | g.32380074A>T | CA387758106 | BRCA2 | c.9185A>T (p.Asp3062Val) c.*552A>T (n.*552A>T) c.8816A>T (p.Asp2939Val) c.*747A>T (n.*747A>T) c.9134A>T (p.Asp3045Val) c.1601A>T (p.Asp534Val) n.1312A>T c.9193A>T (n.9193A>T) c.2063A>T c.68A>T (p.Asp23Val) c.142A>T c.9089A>T (p.Asp3030Val) | dbSNP |
13 | g.32380075T>A | CA387758107 | BRCA2 | c.9186T>A (p.Asp3062Glu) c.*553T>A (n.*553T>A) c.8817T>A (p.Asp2939Glu) c.*748T>A (n.*748T>A) c.9135T>A (p.Asp3045Glu) c.1602T>A (p.Asp534Glu) n.1313T>A c.9194T>A (n.9194T>A) c.2064T>A c.69T>A (p.Asp23Glu) c.143T>A c.9090T>A (p.Asp3030Glu) | |
13 | g.32380075T>C | CA483262081 | BRCA2 | c.9186T>C (p.Asp3062=) c.*553T>C (n.*553T>C) c.8817T>C (p.Asp2939=) c.*748T>C (n.*748T>C) c.9135T>C (p.Asp3045=) c.1602T>C (p.Asp534=) n.1313T>C c.9194T>C (n.9194T>C) c.2064T>C c.69T>C (p.Asp23=) c.143T>C c.9090T>C (p.Asp3030=) | |
13 | g.32380075T>G | CA387758111 | BRCA2 | c.9186T>G (p.Asp3062Glu) c.*553T>G (n.*553T>G) c.8817T>G (p.Asp2939Glu) c.*748T>G (n.*748T>G) c.9135T>G (p.Asp3045Glu) c.1602T>G (p.Asp534Glu) n.1313T>G c.9194T>G (n.9194T>G) c.2064T>G c.69T>G (p.Asp23Glu) c.143T>G c.9090T>G (p.Asp3030Glu) | |
13 | g.32380076C>A | CA387758117 | BRCA2 | c.9187C>A (p.Pro3063Thr) c.*554C>A (n.*554C>A) c.8818C>A (p.Pro2940Thr) c.*749C>A (n.*749C>A) c.9136C>A (p.Pro3046Thr) c.1603C>A (p.Pro535Thr) n.1314C>A c.9195C>A (n.9195C>A) c.2065C>A c.70C>A (p.Pro24Thr) c.144C>A c.9091C>A (p.Pro3031Thr) | dbSNP |
13 | g.32380076C= | CA2082840591 | BRCA2 | c.9187C= (p.Pro3063=) c.*554C= (n.*554C=) c.8818C= (p.Pro2940=) c.*749C= (n.*749C=) c.9136C= (p.Pro3046=) c.1603C= (p.Pro535=) n.1314C= c.9195C= (n.9195C=) c.2065C= c.70C= (p.Pro24=) c.144C= c.9091C= (p.Pro3031=) | |
13 | g.32380076C>G | CA387758157 | BRCA2 | c.9187C>G (p.Pro3063Ala) c.*554C>G (n.*554C>G) c.8818C>G (p.Pro2940Ala) c.*749C>G (n.*749C>G) c.9136C>G (p.Pro3046Ala) c.1603C>G (p.Pro535Ala) n.1314C>G c.9195C>G (n.9195C>G) c.2065C>G c.70C>G (p.Pro24Ala) c.144C>G c.9091C>G (p.Pro3031Ala) | dbSNP |
13 | g.32380076C>T | CA026020 | BRCA2 | c.9187C>T (p.Pro3063Ser) c.*554C>T (n.*554C>T) c.8818C>T (p.Pro2940Ser) c.*749C>T (n.*749C>T) c.9136C>T (p.Pro3046Ser) c.1603C>T (p.Pro535Ser) n.1314C>T c.9195C>T (n.9195C>T) c.2065C>T c.70C>T (p.Pro24Ser) c.144C>T c.9091C>T (p.Pro3031Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32380077del | CA2695217962 | BRCA2 | c.9188del (p.Pro3063GlnfsTer12) c.*555del (n.*555del) c.8819del (p.Pro2940GlnfsTer12) c.*750del (n.*750del) c.9137del (p.Pro3046GlnfsTer12) c.1604del (p.Pro535GlnfsTer12) n.1315del c.9196del (n.9196del) c.2066del c.71del (p.Pro24GlnfsTer12) c.145del c.9092del (p.Pro3031GlnfsTer12) | |
13 | g.32380077C>A | CA387758163 | BRCA2 | c.9188C>A (p.Pro3063Gln) c.*555C>A (n.*555C>A) c.8819C>A (p.Pro2940Gln) c.*750C>A (n.*750C>A) c.9137C>A (p.Pro3046Gln) c.1604C>A (p.Pro535Gln) n.1315C>A c.9196C>A (n.9196C>A) c.2066C>A c.71C>A (p.Pro24Gln) c.145C>A c.9092C>A (p.Pro3031Gln) | dbSNP |
13 | g.32380077C= | CA2082840598 | BRCA2 | c.9188C= (p.Pro3063=) c.*555C= (n.*555C=) c.8819C= (p.Pro2940=) c.*750C= (n.*750C=) c.9137C= (p.Pro3046=) c.1604C= (p.Pro535=) n.1315C= c.9196C= (n.9196C=) c.2066C= c.71C= (p.Pro24=) c.145C= c.9092C= (p.Pro3031=) | |
13 | g.32380077C>G | CA387758165 | BRCA2 | c.9188C>G (p.Pro3063Arg) c.*555C>G (n.*555C>G) c.8819C>G (p.Pro2940Arg) c.*750C>G (n.*750C>G) c.9137C>G (p.Pro3046Arg) c.1604C>G (p.Pro535Arg) n.1315C>G c.9196C>G (n.9196C>G) c.2066C>G c.71C>G (p.Pro24Arg) c.145C>G c.9092C>G (p.Pro3031Arg) | ClinVar dbSNP |
13 | g.32380077C>T | CA387758168 | BRCA2 | c.9188C>T (p.Pro3063Leu) c.*555C>T (n.*555C>T) c.8819C>T (p.Pro2940Leu) c.*750C>T (n.*750C>T) c.9137C>T (p.Pro3046Leu) c.1604C>T (p.Pro535Leu) n.1315C>T c.9196C>T (n.9196C>T) c.2066C>T c.71C>T (p.Pro24Leu) c.145C>T c.9092C>T (p.Pro3031Leu) | dbSNP |
13 | g.32380078A>C | CA483262084 | BRCA2 | c.9189A>C (p.Pro3063=) c.*556A>C (n.*556A>C) c.8820A>C (p.Pro2940=) c.*751A>C (n.*751A>C) c.9138A>C (p.Pro3046=) c.1605A>C (p.Pro535=) n.1316A>C c.9197A>C (n.9197A>C) c.2067A>C c.72A>C (p.Pro24=) c.146A>C c.9093A>C (p.Pro3031=) | |
13 | g.32380078A>G | CA483262087 | BRCA2 | c.9189A>G (p.Pro3063=) c.*556A>G (n.*556A>G) c.8820A>G (p.Pro2940=) c.*751A>G (n.*751A>G) c.9138A>G (p.Pro3046=) c.1605A>G (p.Pro535=) n.1316A>G c.9197A>G (n.9197A>G) c.2067A>G c.72A>G (p.Pro24=) c.146A>G c.9093A>G (p.Pro3031=) | dbSNP |
13 | g.32380078A>T | CA483262085 | BRCA2 | c.9189A>T (p.Pro3063=) c.*556A>T (n.*556A>T) c.8820A>T (p.Pro2940=) c.*751A>T (n.*751A>T) c.9138A>T (p.Pro3046=) c.1605A>T (p.Pro535=) n.1316A>T c.9197A>T (n.9197A>T) c.2067A>T c.72A>T (p.Pro24=) c.146A>T c.9093A>T (p.Pro3031=) | dbSNP |
13 | g.32380079G>A | CA026023 | BRCA2 | c.9190G>A (p.Asp3064Asn) c.*557G>A (n.*557G>A) c.8821G>A (p.Asp2941Asn) c.*752G>A (n.*752G>A) c.9139G>A (p.Asp3047Asn) c.1606G>A (p.Asp536Asn) n.1317G>A c.9198G>A (n.9198G>A) c.2068G>A c.73G>A (p.Asp25Asn) c.147G>A c.9094G>A (p.Asp3032Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32380079G>C | CA387758170 | BRCA2 | c.9190G>C (p.Asp3064His) c.*557G>C (n.*557G>C) c.8821G>C (p.Asp2941His) c.*752G>C (n.*752G>C) c.9139G>C (p.Asp3047His) c.1606G>C (p.Asp536His) n.1317G>C c.9198G>C (n.9198G>C) c.2068G>C c.73G>C (p.Asp25His) c.147G>C c.9094G>C (p.Asp3032His) | ClinVar dbSNP |
13 | g.32380079G= | CA2082840614 | BRCA2 | c.9190G= (p.Asp3064=) c.*557G= (n.*557G=) c.8821G= (p.Asp2941=) c.*752G= (n.*752G=) c.9139G= (p.Asp3047=) c.1606G= (p.Asp536=) n.1317G= c.9198G= (n.9198G=) c.2068G= c.73G= (p.Asp25=) c.147G= c.9094G= (p.Asp3032=) | |
13 | g.32380079G>T | CA026024 | BRCA2 | c.9190G>T (p.Asp3064Tyr) c.*557G>T (n.*557G>T) c.8821G>T (p.Asp2941Tyr) c.*752G>T (n.*752G>T) c.9139G>T (p.Asp3047Tyr) c.1606G>T (p.Asp536Tyr) n.1317G>T c.9198G>T (n.9198G>T) c.2068G>T c.73G>T (p.Asp25Tyr) c.147G>T c.9094G>T (p.Asp3032Tyr) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
13 | g.32380080del | CA2499222369 | BRCA2 | c.9191del (p.Asp3064AlafsTer11) c.*558del (n.*558del) c.8822del (p.Asp2941AlafsTer11) c.*753del (n.*753del) c.9140del (p.Asp3047AlafsTer11) c.1607del (p.Asp536AlafsTer11) n.1318del c.9199del (n.9199del) c.2069del c.74del (p.Asp25AlafsTer11) c.148del c.9095del (p.Asp3032AlafsTer11) | ClinVar dbSNP |
13 | g.32380080A= | CA2082840624 | BRCA2 | c.9191A= (p.Asp3064=) c.*558A= (n.*558A=) c.8822A= (p.Asp2941=) c.*753A= (n.*753A=) c.9140A= (p.Asp3047=) c.1607A= (p.Asp536=) n.1318A= c.9199A= (n.9199A=) c.2069A= c.74A= (p.Asp25=) c.148A= c.9095A= (p.Asp3032=) | |
13 | g.32380080A>C | CA387758181 | BRCA2 | c.9191A>C (p.Asp3064Ala) c.*558A>C (n.*558A>C) c.8822A>C (p.Asp2941Ala) c.*753A>C (n.*753A>C) c.9140A>C (p.Asp3047Ala) c.1607A>C (p.Asp536Ala) n.1318A>C c.9199A>C (n.9199A>C) c.2069A>C c.74A>C (p.Asp25Ala) c.148A>C c.9095A>C (p.Asp3032Ala) | dbSNP |
13 | g.32380080A>G | CA16619788 | BRCA2 | c.9191A>G (p.Asp3064Gly) c.*558A>G (n.*558A>G) c.8822A>G (p.Asp2941Gly) c.*753A>G (n.*753A>G) c.9140A>G (p.Asp3047Gly) c.1607A>G (p.Asp536Gly) n.1318A>G c.9199A>G (n.9199A>G) c.2069A>G c.74A>G (p.Asp25Gly) c.148A>G c.9095A>G (p.Asp3032Gly) | ClinVar dbSNP |
13 | g.32380080A>T | CA387758187 | BRCA2 | c.9191A>T (p.Asp3064Val) c.*558A>T (n.*558A>T) c.8822A>T (p.Asp2941Val) c.*753A>T (n.*753A>T) c.9140A>T (p.Asp3047Val) c.1607A>T (p.Asp536Val) n.1318A>T c.9199A>T (n.9199A>T) c.2069A>T c.74A>T (p.Asp25Val) c.148A>T c.9095A>T (p.Asp3032Val) | dbSNP |
13 | g.32380081C>A | CA387758194 | BRCA2 | c.9192C>A (p.Asp3064Glu) c.*559C>A (n.*559C>A) c.8823C>A (p.Asp2941Glu) c.*754C>A (n.*754C>A) c.9141C>A (p.Asp3047Glu) c.1608C>A (p.Asp536Glu) n.1319C>A c.9200C>A (n.9200C>A) c.2070C>A c.75C>A (p.Asp25Glu) c.149C>A c.9096C>A (p.Asp3032Glu) | |
13 | g.32380081C= | CA2082840630 | BRCA2 | c.9192C= (p.Asp3064=) c.*559C= (n.*559C=) c.8823C= (p.Asp2941=) c.*754C= (n.*754C=) c.9141C= (p.Asp3047=) c.1608C= (p.Asp536=) n.1319C= c.9200C= (n.9200C=) c.2070C= c.75C= (p.Asp25=) c.149C= c.9096C= (p.Asp3032=) | |
13 | g.32380081C>G | CA387758189 | BRCA2 | c.9192C>G (p.Asp3064Glu) c.*559C>G (n.*559C>G) c.8823C>G (p.Asp2941Glu) c.*754C>G (n.*754C>G) c.9141C>G (p.Asp3047Glu) c.1608C>G (p.Asp536Glu) n.1319C>G c.9200C>G (n.9200C>G) c.2070C>G c.75C>G (p.Asp25Glu) c.149C>G c.9096C>G (p.Asp3032Glu) | dbSNP |
13 | g.32380081C>T | CA247494884 | BRCA2 | c.9192C>T (p.Asp3064=) c.*559C>T (n.*559C>T) c.8823C>T (p.Asp2941=) c.*754C>T (n.*754C>T) c.9141C>T (p.Asp3047=) c.1608C>T (p.Asp536=) n.1319C>T c.9200C>T (n.9200C>T) c.2070C>T c.75C>T (p.Asp25=) c.149C>T c.9096C>T (p.Asp3032=) | ClinVar dbSNP gnomAD v4 |
13 | g.32380081_32380083delinsCTT | CA2082840628 | BRCA2 | c.9192_9194delinsCTT (p.Asp3064=) c.*559_*561delinsCTT (n.*559_*561delinsCTT) c.8823_8825delinsCTT (p.Asp2941=) c.*754_*756delinsCTT (n.*754_*756delinsCTT) c.9141_9143delinsCTT (p.Asp3047=) c.1608_1610delinsCTT (p.Asp536=) n.1319_1321delinsCTT c.9200_9202delinsCTT (n.9200_9202delinsCTT) c.2070_2072delinsCTT c.75_77delinsCTT (p.Asp25=) c.149_151delinsCTT c.9096_9098delinsCTT (p.Asp3032=) | |
13 | g.32380082T>A | CA387758198 | BRCA2 | c.9193T>A (p.Phe3065Ile) c.*560T>A (n.*560T>A) c.8824T>A (p.Phe2942Ile) c.*755T>A (n.*755T>A) c.9142T>A (p.Phe3048Ile) c.1609T>A (p.Phe537Ile) n.1320T>A c.9201T>A (n.9201T>A) c.2071T>A c.76T>A (p.Phe26Ile) c.150T>A c.9097T>A (p.Phe3033Ile) | dbSNP |
13 | g.32380082T>C | CA387758212 | BRCA2 | c.9193T>C (p.Phe3065Leu) c.*560T>C (n.*560T>C) c.8824T>C (p.Phe2942Leu) c.*755T>C (n.*755T>C) c.9142T>C (p.Phe3048Leu) c.1609T>C (p.Phe537Leu) n.1320T>C c.9201T>C (n.9201T>C) c.2071T>C c.76T>C (p.Phe26Leu) c.150T>C c.9097T>C (p.Phe3033Leu) | |
13 | g.32380082T>G | CA387758213 | BRCA2 | c.9193T>G (p.Phe3065Val) c.*560T>G (n.*560T>G) c.8824T>G (p.Phe2942Val) c.*755T>G (n.*755T>G) c.9142T>G (p.Phe3048Val) c.1609T>G (p.Phe537Val) n.1320T>G c.9201T>G (n.9201T>G) c.2071T>G c.76T>G (p.Phe26Val) c.150T>G c.9097T>G (p.Phe3033Val) | ClinVar dbSNP |
13 | g.32380082T= | CA2082840642 | BRCA2 | c.9193T= (p.Phe3065=) c.*560T= (n.*560T=) c.8824T= (p.Phe2942=) c.*755T= (n.*755T=) c.9142T= (p.Phe3048=) c.1609T= (p.Phe537=) n.1320T= c.9201T= (n.9201T=) c.2071T= c.76T= (p.Phe26=) c.150T= c.9097T= (p.Phe3033=) | |
13 | g.32380084del | CA1139663168 | BRCA2 | c.9195del (p.Gln3066SerfsTer9) c.*562del (n.*562del) c.8826del (p.Gln2943SerfsTer9) c.*757del (n.*757del) c.9144del (p.Gln3049SerfsTer9) c.1611del (p.Gln538SerfsTer9) n.1322del c.9203del (n.9203del) c.2073del c.78del (p.Gln27SerfsTer9) c.152del c.9099del (p.Gln3034SerfsTer9) | ClinVar dbSNP |
13 | g.32380083_32380084del | CA026025 | BRCA2 | c.9194_9195del (p.Phe3065SerfsTer6) c.*561_*562del (n.*561_*562del) c.8825_8826del (p.Phe2942SerfsTer6) c.*756_*757del (n.*756_*757del) c.9143_9144del (p.Phe3048SerfsTer6) c.1610_1611del (p.Phe537SerfsTer6) n.1321_1322del c.9202_9203del (n.9202_9203del) c.2072_2073del c.77_78del (p.Phe26SerfsTer6) c.151_152del c.9098_9099del (p.Phe3033SerfsTer6) | ClinVar dbSNP |
13 | g.32380082_32380083insA | CA658823633 | BRCA2 | c.9193_9194insA (p.Phe3065TyrfsTer7) c.*560_*561insA (n.*560_*561insA) c.8824_8825insA (p.Phe2942TyrfsTer7) c.*755_*756insA (n.*755_*756insA) c.9142_9143insA (p.Phe3048TyrfsTer7) c.1609_1610insA (p.Phe537TyrfsTer7) n.1320_1321insA c.9201_9202insA (n.9201_9202insA) c.2071_2072insA c.76_77insA (p.Phe26TyrfsTer7) c.150_151insA c.9097_9098insA (p.Phe3033TyrfsTer7) | ClinVar dbSNP |
13 | g.32380083T>A | CA387758217 | BRCA2 | c.9194T>A (p.Phe3065Tyr) c.*561T>A (n.*561T>A) c.8825T>A (p.Phe2942Tyr) c.*756T>A (n.*756T>A) c.9143T>A (p.Phe3048Tyr) c.1610T>A (p.Phe537Tyr) n.1321T>A c.9202T>A (n.9202T>A) c.2072T>A c.77T>A (p.Phe26Tyr) c.151T>A c.9098T>A (p.Phe3033Tyr) | dbSNP |
13 | g.32380083T>C | CA387758219 | BRCA2 | c.9194T>C (p.Phe3065Ser) c.*561T>C (n.*561T>C) c.8825T>C (p.Phe2942Ser) c.*756T>C (n.*756T>C) c.9143T>C (p.Phe3048Ser) c.1610T>C (p.Phe537Ser) n.1321T>C c.9202T>C (n.9202T>C) c.2072T>C c.77T>C (p.Phe26Ser) c.151T>C c.9098T>C (p.Phe3033Ser) | gnomAD v4 |
13 | g.32380083T>G | CA387758222 | BRCA2 | c.9194T>G (p.Phe3065Cys) c.*561T>G (n.*561T>G) c.8825T>G (p.Phe2942Cys) c.*756T>G (n.*756T>G) c.9143T>G (p.Phe3048Cys) c.1610T>G (p.Phe537Cys) n.1321T>G c.9202T>G (n.9202T>G) c.2072T>G c.77T>G (p.Phe26Cys) c.151T>G c.9098T>G (p.Phe3033Cys) | |
13 | g.32380083T= | CA2082840654 | BRCA2 | c.9194T= (p.Phe3065=) c.*561T= (n.*561T=) c.8825T= (p.Phe2942=) c.*756T= (n.*756T=) c.9143T= (p.Phe3048=) c.1610T= (p.Phe537=) n.1321T= c.9202T= (n.9202T=) c.2072T= c.77T= (p.Phe26=) c.151T= c.9098T= (p.Phe3033=) | |
13 | g.32380083_32380084insA | CA658653816 | BRCA2 | c.9194_9195insA (p.Phe3065LeufsTer7) c.*561_*562insA (n.*561_*562insA) c.8825_8826insA (p.Phe2942LeufsTer7) c.*756_*757insA (n.*756_*757insA) c.9143_9144insA (p.Phe3048LeufsTer7) c.1610_1611insA (p.Phe537LeufsTer7) n.1321_1322insA c.9202_9203insA (n.9202_9203insA) c.2072_2073insA c.77_78insA (p.Phe26LeufsTer7) c.151_152insA c.9098_9099insA (p.Phe3033LeufsTer7) | ClinVar dbSNP |
13 | g.32380084T>A | CA026026 | BRCA2 | c.9195T>A (p.Phe3065Leu) c.*562T>A (n.*562T>A) c.8826T>A (p.Phe2942Leu) c.*757T>A (n.*757T>A) c.9144T>A (p.Phe3048Leu) c.1611T>A (p.Phe537Leu) n.1322T>A c.9203T>A (n.9203T>A) c.2073T>A c.78T>A (p.Phe26Leu) c.152T>A c.9099T>A (p.Phe3033Leu) | ClinVar dbSNP gnomAD v4 |
13 | g.32380084T>C | CA10579814 | BRCA2 | c.9195T>C (p.Phe3065=) c.*562T>C (n.*562T>C) c.8826T>C (p.Phe2942=) c.*757T>C (n.*757T>C) c.9144T>C (p.Phe3048=) c.1611T>C (p.Phe537=) n.1322T>C c.9203T>C (n.9203T>C) c.2073T>C c.78T>C (p.Phe26=) c.152T>C c.9099T>C (p.Phe3033=) | ClinVar dbSNP |
13 | g.32380084T>G | CA387758230 | BRCA2 | c.9195T>G (p.Phe3065Leu) c.*562T>G (n.*562T>G) c.8826T>G (p.Phe2942Leu) c.*757T>G (n.*757T>G) c.9144T>G (p.Phe3048Leu) c.1611T>G (p.Phe537Leu) n.1322T>G c.9203T>G (n.9203T>G) c.2073T>G c.78T>G (p.Phe26Leu) c.152T>G c.9099T>G (p.Phe3033Leu) | |
13 | g.32380084T= | CA2082840684 | BRCA2 | c.9195T= (p.Phe3065=) c.*562T= (n.*562T=) c.8826T= (p.Phe2942=) c.*757T= (n.*757T=) c.9144T= (p.Phe3048=) c.1611T= (p.Phe537=) n.1322T= c.9203T= (n.9203T=) c.2073T= c.78T= (p.Phe26=) c.152T= c.9099T= (p.Phe3033=) | |
13 | g.32380084_32380085delinsAT | CA10579815 | BRCA2 | c.9195_9196delinsAT (p.Phe3065LeufsTer2) c.*562_*563delinsAT (n.*562_*563delinsAT) c.8826_8827delinsAT (p.Phe2942LeufsTer2) c.*757_*758delinsAT (n.*757_*758delinsAT) c.9144_9145delinsAT (p.Phe3048LeufsTer2) c.1611_1612delinsAT (p.Phe537LeufsTer2) n.1322_1323delinsAT c.9203_9204delinsAT (n.9203_9204delinsAT) c.2073_2074delinsAT c.78_79delinsAT (p.Phe26LeufsTer2) c.152_153delinsAT c.9099_9100delinsAT (p.Phe3033LeufsTer2) | ClinVar dbSNP |
13 | g.32380084_32380085delinsTC | CA2082840676 | BRCA2 | c.9195_9196delinsTC (p.Phe3065=) c.*562_*563delinsTC (n.*562_*563delinsTC) c.8826_8827delinsTC (p.Phe2942=) c.*757_*758delinsTC (n.*757_*758delinsTC) c.9144_9145delinsTC (p.Phe3048=) c.1611_1612delinsTC (p.Phe537=) n.1322_1323delinsTC c.9203_9204delinsTC (n.9203_9204delinsTC) c.2073_2074delinsTC c.78_79delinsTC (p.Phe26=) c.152_153delinsTC c.9099_9100delinsTC (p.Phe3033=) | |
13 | g.32380085C>A | CA10583151 | BRCA2 | c.9196C>A (p.Gln3066Lys) c.*563C>A (n.*563C>A) c.8827C>A (p.Gln2943Lys) c.*758C>A (n.*758C>A) c.9145C>A (p.Gln3049Lys) c.1612C>A (p.Gln538Lys) n.1323C>A c.9204C>A (n.9204C>A) c.2074C>A c.79C>A (p.Gln27Lys) c.153C>A c.9100C>A (p.Gln3034Lys) | ClinVar dbSNP |
13 | g.32380085C= | CA2082840698 | BRCA2 | c.9196C= (p.Gln3066=) c.*563C= (n.*563C=) c.8827C= (p.Gln2943=) c.*758C= (n.*758C=) c.9145C= (p.Gln3049=) c.1612C= (p.Gln538=) n.1323C= c.9204C= (n.9204C=) c.2074C= c.79C= (p.Gln27=) c.153C= c.9100C= (p.Gln3034=) | |
13 | g.32380085C>G | CA026027 | BRCA2 | c.9196C>G (p.Gln3066Glu) c.*563C>G (n.*563C>G) c.8827C>G (p.Gln2943Glu) c.*758C>G (n.*758C>G) c.9145C>G (p.Gln3049Glu) c.1612C>G (p.Gln538Glu) n.1323C>G c.9204C>G (n.9204C>G) c.2074C>G c.79C>G (p.Gln27Glu) c.153C>G c.9100C>G (p.Gln3034Glu) | ClinVar dbSNP gnomAD v4 |
13 | g.32380085C>T | CA026028 | BRCA2 | c.9196C>T (p.Gln3066Ter) c.*563C>T (n.*563C>T) c.8827C>T (p.Gln2943Ter) c.*758C>T (n.*758C>T) c.9145C>T (p.Gln3049Ter) c.1612C>T (p.Gln538Ter) n.1323C>T c.9204C>T (n.9204C>T) c.2074C>T c.79C>T (p.Gln27Ter) c.153C>T c.9100C>T (p.Gln3034Ter) | ClinVar dbSNP gnomAD v4 |
13 | g.32380086A>C | CA387758235 | BRCA2 | c.9197A>C (p.Gln3066Pro) c.*564A>C (n.*564A>C) c.8828A>C (p.Gln2943Pro) c.*759A>C (n.*759A>C) c.9146A>C (p.Gln3049Pro) c.1613A>C (p.Gln538Pro) n.1324A>C c.9205A>C (n.9205A>C) c.2075A>C c.80A>C (p.Gln27Pro) c.154A>C c.9101A>C (p.Gln3034Pro) | |
13 | g.32380086A>G | CA387758236 | BRCA2 | c.9197A>G (p.Gln3066Arg) c.*564A>G (n.*564A>G) c.8828A>G (p.Gln2943Arg) c.*759A>G (n.*759A>G) c.9146A>G (p.Gln3049Arg) c.1613A>G (p.Gln538Arg) n.1324A>G c.9205A>G (n.9205A>G) c.2075A>G c.80A>G (p.Gln27Arg) c.154A>G c.9101A>G (p.Gln3034Arg) | dbSNP gnomAD v4 |
13 | g.32380086A>T | CA387758239 | BRCA2 | c.9197A>T (p.Gln3066Leu) c.*564A>T (n.*564A>T) c.8828A>T (p.Gln2943Leu) c.*759A>T (n.*759A>T) c.9146A>T (p.Gln3049Leu) c.1613A>T (p.Gln538Leu) n.1324A>T c.9205A>T (n.9205A>T) c.2075A>T c.80A>T (p.Gln27Leu) c.154A>T c.9101A>T (p.Gln3034Leu) | dbSNP |
13 | g.32380087G>A | CA483262092 | BRCA2 | c.9198G>A (p.Gln3066=) c.*565G>A (n.*565G>A) c.8829G>A (p.Gln2943=) c.*760G>A (n.*760G>A) c.9147G>A (p.Gln3049=) c.1614G>A (p.Gln538=) n.1325G>A c.9206G>A (n.9206G>A) c.2076G>A c.81G>A (p.Gln27=) c.155G>A c.9102G>A (p.Gln3034=) | ClinVar dbSNP gnomAD v4 |
13 | g.32380087G>C | CA6941353 | BRCA2 | c.9198G>C (p.Gln3066His) c.*565G>C (n.*565G>C) c.8829G>C (p.Gln2943His) c.*760G>C (n.*760G>C) c.9147G>C (p.Gln3049His) c.1614G>C (p.Gln538His) n.1325G>C c.9206G>C (n.9206G>C) c.2076G>C c.81G>C (p.Gln27His) c.155G>C c.9102G>C (p.Gln3034His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32380087G= | CA2082840713 | BRCA2 | c.9198G= (p.Gln3066=) c.*565G= (n.*565G=) c.8829G= (p.Gln2943=) c.*760G= (n.*760G=) c.9147G= (p.Gln3049=) c.1614G= (p.Gln538=) n.1325G= c.9206G= (n.9206G=) c.2076G= c.81G= (p.Gln27=) c.155G= c.9102G= (p.Gln3034=) | |
13 | g.32380087G>T | CA387758241 | BRCA2 | c.9198G>T (p.Gln3066His) c.*565G>T (n.*565G>T) c.8829G>T (p.Gln2943His) c.*760G>T (n.*760G>T) c.9147G>T (p.Gln3049His) c.1614G>T (p.Gln538His) n.1325G>T c.9206G>T (n.9206G>T) c.2076G>T c.81G>T (p.Gln27His) c.155G>T c.9102G>T (p.Gln3034His) | dbSNP |
13 | g.32380088C>A | CA387758248 | BRCA2 | c.9199C>A (p.Pro3067Thr) c.*566C>A (n.*566C>A) c.8830C>A (p.Pro2944Thr) c.*761C>A (n.*761C>A) c.9148C>A (p.Pro3050Thr) c.1615C>A (p.Pro539Thr) n.1326C>A c.9207C>A (n.9207C>A) c.2077C>A c.82C>A (p.Pro28Thr) c.156C>A c.9103C>A (p.Pro3035Thr) | dbSNP |
13 | g.32380088C= | CA2082840724 | BRCA2 | c.9199C= (p.Pro3067=) c.*566C= (n.*566C=) c.8830C= (p.Pro2944=) c.*761C= (n.*761C=) c.9148C= (p.Pro3050=) c.1615C= (p.Pro539=) n.1326C= c.9207C= (n.9207C=) c.2077C= c.82C= (p.Pro28=) c.156C= c.9103C= (p.Pro3035=) | |
13 | g.32380088C>G | CA387758252 | BRCA2 | c.9199C>G (p.Pro3067Ala) c.*566C>G (n.*566C>G) c.8830C>G (p.Pro2944Ala) c.*761C>G (n.*761C>G) c.9148C>G (p.Pro3050Ala) c.1615C>G (p.Pro539Ala) n.1326C>G c.9207C>G (n.9207C>G) c.2077C>G c.82C>G (p.Pro28Ala) c.156C>G c.9103C>G (p.Pro3035Ala) | dbSNP |
13 | g.32380088C>T | CA6941354 | BRCA2 | c.9199C>T (p.Pro3067Ser) c.*566C>T (n.*566C>T) c.8830C>T (p.Pro2944Ser) c.*761C>T (n.*761C>T) c.9148C>T (p.Pro3050Ser) c.1615C>T (p.Pro539Ser) n.1326C>T c.9207C>T (n.9207C>T) c.2077C>T c.82C>T (p.Pro28Ser) c.156C>T c.9103C>T (p.Pro3035Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32380089C>A | CA387758260 | BRCA2 | c.9200C>A (p.Pro3067Gln) c.*567C>A (n.*567C>A) c.8831C>A (p.Pro2944Gln) c.*762C>A (n.*762C>A) c.9149C>A (p.Pro3050Gln) c.1616C>A (p.Pro539Gln) n.1327C>A c.9208C>A (n.9208C>A) c.2078C>A c.83C>A (p.Pro28Gln) c.157C>A c.9104C>A (p.Pro3035Gln) | dbSNP |
13 | g.32380089C>G | CA387758262 | BRCA2 | c.9200C>G (p.Pro3067Arg) c.*567C>G (n.*567C>G) c.8831C>G (p.Pro2944Arg) c.*762C>G (n.*762C>G) c.9149C>G (p.Pro3050Arg) c.1616C>G (p.Pro539Arg) n.1327C>G c.9208C>G (n.9208C>G) c.2078C>G c.83C>G (p.Pro28Arg) c.157C>G c.9104C>G (p.Pro3035Arg) | dbSNP |
13 | g.32380089C>T | CA387758274 | BRCA2 | c.9200C>T (p.Pro3067Leu) c.*567C>T (n.*567C>T) c.8831C>T (p.Pro2944Leu) c.*762C>T (n.*762C>T) c.9149C>T (p.Pro3050Leu) c.1616C>T (p.Pro539Leu) n.1327C>T c.9208C>T (n.9208C>T) c.2078C>T c.83C>T (p.Pro28Leu) c.157C>T c.9104C>T (p.Pro3035Leu) | ClinVar dbSNP |
13 | g.32380090_32380092del | CA2580087509 | BRCA2 | c.9201_9203del (p.Ser3068del) c.*568_*570del (n.*568_*570del) c.8832_8834del (p.Ser2945del) c.*763_*765del (n.*763_*765del) c.9150_9152del (p.Ser3051del) c.1617_1619del (p.Ser540del) n.1328_1330del c.9209_9211del (n.9209_9211del) c.2079_2081del c.84_86del (p.Ser29del) c.158_160del c.9105_9107del (p.Ser3036del) | ClinVar |
13 | g.32380089_32380090insCT | CA2499222370 | BRCA2 | c.9200_9201insCT (p.Ser3068TyrfsTer8) c.*567_*568insCT (n.*567_*568insCT) c.8831_8832insCT (p.Ser2945TyrfsTer8) c.*762_*763insCT (n.*762_*763insCT) c.9149_9150insCT (p.Ser3051TyrfsTer8) c.1616_1617insCT (p.Ser540TyrfsTer8) n.1327_1328insCT c.9208_9209insCT (n.9208_9209insCT) c.2078_2079insCT c.83_84insCT (p.Ser29TyrfsTer8) c.157_158insCT c.9104_9105insCT (p.Ser3036TyrfsTer8) | ClinVar dbSNP |
13 | g.32380090A= | CA2082840737 | BRCA2 | c.9201A= (p.Pro3067=) c.*568A= (n.*568A=) c.8832A= (p.Pro2944=) c.*763A= (n.*763A=) c.9150A= (p.Pro3050=) c.1617A= (p.Pro539=) n.1328A= c.9209A= (n.9209A=) c.2079A= c.84A= (p.Pro28=) c.158A= c.9105A= (p.Pro3035=) | |
13 | g.32380090A>C | CA483262093 | BRCA2 | c.9201A>C (p.Pro3067=) c.*568A>C (n.*568A>C) c.8832A>C (p.Pro2944=) c.*763A>C (n.*763A>C) c.9150A>C (p.Pro3050=) c.1617A>C (p.Pro539=) n.1328A>C c.9209A>C (n.9209A>C) c.2079A>C c.84A>C (p.Pro28=) c.158A>C c.9105A>C (p.Pro3035=) | |
13 | g.32380090A>G | CA6941355 | BRCA2 | c.9201A>G (p.Pro3067=) c.*568A>G (n.*568A>G) c.8832A>G (p.Pro2944=) c.*763A>G (n.*763A>G) c.9150A>G (p.Pro3050=) c.1617A>G (p.Pro539=) n.1328A>G c.9209A>G (n.9209A>G) c.2079A>G c.84A>G (p.Pro28=) c.158A>G c.9105A>G (p.Pro3035=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32380090A>T | CA483262094 | BRCA2 | c.9201A>T (p.Pro3067=) c.*568A>T (n.*568A>T) c.8832A>T (p.Pro2944=) c.*763A>T (n.*763A>T) c.9150A>T (p.Pro3050=) c.1617A>T (p.Pro539=) n.1328A>T c.9209A>T (n.9209A>T) c.2079A>T c.84A>T (p.Pro28=) c.158A>T c.9105A>T (p.Pro3035=) | dbSNP |
13 | g.32380091T>A | CA387758279 | BRCA2 | c.9202T>A (p.Ser3068Thr) c.*569T>A (n.*569T>A) c.8833T>A (p.Ser2945Thr) c.*764T>A (n.*764T>A) c.9151T>A (p.Ser3051Thr) c.1618T>A (p.Ser540Thr) n.1329T>A c.9210T>A (n.9210T>A) c.2080T>A c.85T>A (p.Ser29Thr) c.159T>A c.9106T>A (p.Ser3036Thr) | |
13 | g.32380091T>C | CA387758280 | BRCA2 | c.9202T>C (p.Ser3068Pro) c.*569T>C (n.*569T>C) c.8833T>C (p.Ser2945Pro) c.*764T>C (n.*764T>C) c.9151T>C (p.Ser3051Pro) c.1618T>C (p.Ser540Pro) n.1329T>C c.9210T>C (n.9210T>C) c.2080T>C c.85T>C (p.Ser29Pro) c.159T>C c.9106T>C (p.Ser3036Pro) | |
13 | g.32380091T>G | CA387758281 | BRCA2 | c.9202T>G (p.Ser3068Ala) c.*569T>G (n.*569T>G) c.8833T>G (p.Ser2945Ala) c.*764T>G (n.*764T>G) c.9151T>G (p.Ser3051Ala) c.1618T>G (p.Ser540Ala) n.1329T>G c.9210T>G (n.9210T>G) c.2080T>G c.85T>G (p.Ser29Ala) c.159T>G c.9106T>G (p.Ser3036Ala) | |
13 | g.32380092_32380093dup | CA2695217963 | BRCA2 | c.9203_9204dup (p.Cys3069LeufsTer7) c.*570_*571dup (n.*570_*571dup) c.8834_8835dup (p.Cys2946LeufsTer7) c.*765_*766dup (n.*765_*766dup) c.9152_9153dup (p.Cys3052LeufsTer7) c.1619_1620dup (p.Cys541LeufsTer7) n.1330_1331dup c.9211_9212dup (n.9211_9212dup) c.2081_2082dup c.86_87dup (p.Cys30LeufsTer7) c.160_161dup c.9107_9108dup (p.Cys3037LeufsTer7) | |
13 | g.32380092C>A | CA387758282 | BRCA2 | c.9203C>A (p.Ser3068Tyr) c.*570C>A (n.*570C>A) c.8834C>A (p.Ser2945Tyr) c.*765C>A (n.*765C>A) c.9152C>A (p.Ser3051Tyr) c.1619C>A (p.Ser540Tyr) n.1330C>A c.9211C>A (n.9211C>A) c.2081C>A c.86C>A (p.Ser29Tyr) c.160C>A c.9107C>A (p.Ser3036Tyr) | |
13 | g.32380092C>G | CA387758283 | BRCA2 | c.9203C>G (p.Ser3068Cys) c.*570C>G (n.*570C>G) c.8834C>G (p.Ser2945Cys) c.*765C>G (n.*765C>G) c.9152C>G (p.Ser3051Cys) c.1619C>G (p.Ser540Cys) n.1330C>G c.9211C>G (n.9211C>G) c.2081C>G c.86C>G (p.Ser29Cys) c.160C>G c.9107C>G (p.Ser3036Cys) | dbSNP |
13 | g.32380092C>T | CA387758284 | BRCA2 | c.9203C>T (p.Ser3068Phe) c.*570C>T (n.*570C>T) c.8834C>T (p.Ser2945Phe) c.*765C>T (n.*765C>T) c.9152C>T (p.Ser3051Phe) c.1619C>T (p.Ser540Phe) n.1330C>T c.9211C>T (n.9211C>T) c.2081C>T c.86C>T (p.Ser29Phe) c.160C>T c.9107C>T (p.Ser3036Phe) | dbSNP |
13 | g.32380093T>A | CA483262095 | BRCA2 | c.9204T>A (p.Ser3068=) c.*571T>A (n.*571T>A) c.8835T>A (p.Ser2945=) c.*766T>A (n.*766T>A) c.9153T>A (p.Ser3051=) c.1620T>A (p.Ser540=) n.1331T>A c.9212T>A (n.9212T>A) c.2082T>A c.87T>A (p.Ser29=) c.161T>A c.9108T>A (p.Ser3036=) | dbSNP |
13 | g.32380093T>C | CA483262096 | BRCA2 | c.9204T>C (p.Ser3068=) c.*571T>C (n.*571T>C) c.8835T>C (p.Ser2945=) c.*766T>C (n.*766T>C) c.9153T>C (p.Ser3051=) c.1620T>C (p.Ser540=) n.1331T>C c.9212T>C (n.9212T>C) c.2082T>C c.87T>C (p.Ser29=) c.161T>C c.9108T>C (p.Ser3036=) | |
13 | g.32380093T>G | CA483262098 | BRCA2 | c.9204T>G (p.Ser3068=) c.*571T>G (n.*571T>G) c.8835T>G (p.Ser2945=) c.*766T>G (n.*766T>G) c.9153T>G (p.Ser3051=) c.1620T>G (p.Ser540=) n.1331T>G c.9212T>G (n.9212T>G) c.2082T>G c.87T>G (p.Ser29=) c.161T>G c.9108T>G (p.Ser3036=) | ClinVar dbSNP |
13 | g.32380094T>A | CA387758288 | BRCA2 | c.9205T>A (p.Cys3069Ser) c.*572T>A (n.*572T>A) c.8836T>A (p.Cys2946Ser) c.*767T>A (n.*767T>A) c.9154T>A (p.Cys3052Ser) c.1621T>A (p.Cys541Ser) n.1332T>A c.9213T>A (n.9213T>A) c.2083T>A c.88T>A (p.Cys30Ser) c.162T>A c.9109T>A (p.Cys3037Ser) | |
13 | g.32380094T>C | CA026030 | BRCA2 | c.9205T>C (p.Cys3069Arg) c.*572T>C (n.*572T>C) c.8836T>C (p.Cys2946Arg) c.*767T>C (n.*767T>C) c.9154T>C (p.Cys3052Arg) c.1621T>C (p.Cys541Arg) n.1332T>C c.9213T>C (n.9213T>C) c.2083T>C c.88T>C (p.Cys30Arg) c.162T>C c.9109T>C (p.Cys3037Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32380094T>G | CA026031 | BRCA2 | c.9205T>G (p.Cys3069Gly) c.*572T>G (n.*572T>G) c.8836T>G (p.Cys2946Gly) c.*767T>G (n.*767T>G) c.9154T>G (p.Cys3052Gly) c.1621T>G (p.Cys541Gly) n.1332T>G c.9213T>G (n.9213T>G) c.2083T>G c.88T>G (p.Cys30Gly) c.162T>G c.9109T>G (p.Cys3037Gly) | ClinVar dbSNP |
13 | g.32380094T= | CA2082840756 | BRCA2 | c.9205T= (p.Cys3069=) c.*572T= (n.*572T=) c.8836T= (p.Cys2946=) c.*767T= (n.*767T=) c.9154T= (p.Cys3052=) c.1621T= (p.Cys541=) n.1332T= c.9213T= (n.9213T=) c.2083T= c.88T= (p.Cys30=) c.162T= c.9109T= (p.Cys3037=) | |
13 | g.32380095G>A | CA387758294 | BRCA2 | c.9206G>A (p.Cys3069Tyr) c.*573G>A (n.*573G>A) c.8837G>A (p.Cys2946Tyr) c.*768G>A (n.*768G>A) c.9155G>A (p.Cys3052Tyr) c.1622G>A (p.Cys541Tyr) n.1333G>A c.9214G>A (n.9214G>A) c.2084G>A c.89G>A (p.Cys30Tyr) c.163G>A c.9110G>A (p.Cys3037Tyr) | ClinVar dbSNP gnomAD v4 |
13 | g.32380095G>C | CA387758295 | BRCA2 | c.9206G>C (p.Cys3069Ser) c.*573G>C (n.*573G>C) c.8837G>C (p.Cys2946Ser) c.*768G>C (n.*768G>C) c.9155G>C (p.Cys3052Ser) c.1622G>C (p.Cys541Ser) n.1333G>C c.9214G>C (n.9214G>C) c.2084G>C c.89G>C (p.Cys30Ser) c.163G>C c.9110G>C (p.Cys3037Ser) | dbSNP |
13 | g.32380095G= | CA2082840773 | BRCA2 | c.9206G= (p.Cys3069=) c.*573G= (n.*573G=) c.8837G= (p.Cys2946=) c.*768G= (n.*768G=) c.9155G= (p.Cys3052=) c.1622G= (p.Cys541=) n.1333G= c.9214G= (n.9214G=) c.2084G= c.89G= (p.Cys30=) c.163G= c.9110G= (p.Cys3037=) | |
13 | g.32380095G>T | CA026032 | BRCA2 | c.9206G>T (p.Cys3069Phe) c.*573G>T (n.*573G>T) c.8837G>T (p.Cys2946Phe) c.*768G>T (n.*768G>T) c.9155G>T (p.Cys3052Phe) c.1622G>T (p.Cys541Phe) n.1333G>T c.9214G>T (n.9214G>T) c.2084G>T c.89G>T (p.Cys30Phe) c.163G>T c.9110G>T (p.Cys3037Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32380095_32380098del | CA645571583 | BRCA2 | c.9206_9209del (p.Cys3069LeufsTer5) c.*573_*576del (n.*573_*576del) c.8837_8840del (p.Cys2946LeufsTer5) c.*768_*771del (n.*768_*771del) c.9155_9158del (p.Cys3052LeufsTer5) c.1622_1625del (p.Cys541LeufsTer5) n.1333_1336del c.9214_9217del (n.9214_9217del) c.2084_2087del c.89_92del (p.Cys30LeufsTer5) c.163_166del c.9110_9113del (p.Cys3037LeufsTer5) | COSMIC COSMIC |
13 | g.32380096T>A | CA026033 | BRCA2 | c.9207T>A (p.Cys3069Ter) c.*574T>A (n.*574T>A) c.8838T>A (p.Cys2946Ter) c.*769T>A (n.*769T>A) c.9156T>A (p.Cys3052Ter) c.1623T>A (p.Cys541Ter) n.1334T>A c.9215T>A (n.9215T>A) c.2085T>A c.90T>A (p.Cys30Ter) c.164T>A c.9111T>A (p.Cys3037Ter) | ClinVar dbSNP |
13 | g.32380096T>C | CA10579816 | BRCA2 | c.9207T>C (p.Cys3069=) c.*574T>C (n.*574T>C) c.8838T>C (p.Cys2946=) c.*769T>C (n.*769T>C) c.9156T>C (p.Cys3052=) c.1623T>C (p.Cys541=) n.1334T>C c.9215T>C (n.9215T>C) c.2085T>C c.90T>C (p.Cys30=) c.164T>C c.9111T>C (p.Cys3037=) | ClinVar dbSNP |
13 | g.32380096T>G | CA387758327 | BRCA2 | c.9207T>G (p.Cys3069Trp) c.*574T>G (n.*574T>G) c.8838T>G (p.Cys2946Trp) c.*769T>G (n.*769T>G) c.9156T>G (p.Cys3052Trp) c.1623T>G (p.Cys541Trp) n.1334T>G c.9215T>G (n.9215T>G) c.2085T>G c.90T>G (p.Cys30Trp) c.164T>G c.9111T>G (p.Cys3037Trp) | |
13 | g.32380096T= | CA2082840795 | BRCA2 | c.9207T= (p.Cys3069=) c.*574T= (n.*574T=) c.8838T= (p.Cys2946=) c.*769T= (n.*769T=) c.9156T= (p.Cys3052=) c.1623T= (p.Cys541=) n.1334T= c.9215T= (n.9215T=) c.2085T= c.90T= (p.Cys30=) c.164T= c.9111T= (p.Cys3037=) | |
13 | g.32380097T>A | CA387758330 | BRCA2 | c.9208T>A (p.Ser3070Thr) c.*575T>A (n.*575T>A) c.8839T>A (p.Ser2947Thr) c.*770T>A (n.*770T>A) c.9157T>A (p.Ser3053Thr) c.1624T>A (p.Ser542Thr) n.1335T>A c.9216T>A (n.9216T>A) c.2086T>A c.91T>A (p.Ser31Thr) c.165T>A c.9112T>A (p.Ser3038Thr) | dbSNP |
13 | g.32380097T>C | CA387758332 | BRCA2 | c.9208T>C (p.Ser3070Pro) c.*575T>C (n.*575T>C) c.8839T>C (p.Ser2947Pro) c.*770T>C (n.*770T>C) c.9157T>C (p.Ser3053Pro) c.1624T>C (p.Ser542Pro) n.1335T>C c.9216T>C (n.9216T>C) c.2086T>C c.91T>C (p.Ser31Pro) c.165T>C c.9112T>C (p.Ser3038Pro) | ClinVar dbSNP |
13 | g.32380097T>G | CA387758335 | BRCA2 | c.9208T>G (p.Ser3070Ala) c.*575T>G (n.*575T>G) c.8839T>G (p.Ser2947Ala) c.*770T>G (n.*770T>G) c.9157T>G (p.Ser3053Ala) c.1624T>G (p.Ser542Ala) n.1335T>G c.9216T>G (n.9216T>G) c.2086T>G c.91T>G (p.Ser31Ala) c.165T>G c.9112T>G (p.Ser3038Ala) | ClinVar dbSNP |
13 | g.32380097T= | CA2082840802 | BRCA2 | c.9208T= (p.Ser3070=) c.*575T= (n.*575T=) c.8839T= (p.Ser2947=) c.*770T= (n.*770T=) c.9157T= (p.Ser3053=) c.1624T= (p.Ser542=) n.1335T= c.9216T= (n.9216T=) c.2086T= c.91T= (p.Ser31=) c.165T= c.9112T= (p.Ser3038=) | |
13 | g.32380098C>A | CA387758340 | BRCA2 | c.9209C>A (p.Ser3070Tyr) c.*576C>A (n.*576C>A) c.8840C>A (p.Ser2947Tyr) c.*771C>A (n.*771C>A) c.9158C>A (p.Ser3053Tyr) c.1625C>A (p.Ser542Tyr) n.1336C>A c.9217C>A (n.9217C>A) c.2087C>A c.92C>A (p.Ser31Tyr) c.166C>A c.9113C>A (p.Ser3038Tyr) | dbSNP |
13 | g.32380098C= | CA2082840824 | BRCA2 | c.9209C= (p.Ser3070=) c.*576C= (n.*576C=) c.8840C= (p.Ser2947=) c.*771C= (n.*771C=) c.9158C= (p.Ser3053=) c.1625C= (p.Ser542=) n.1336C= c.9217C= (n.9217C=) c.2087C= c.92C= (p.Ser31=) c.166C= c.9113C= (p.Ser3038=) | |
13 | g.32380098C>G | CA10579817 | BRCA2 | c.9209C>G (p.Ser3070Cys) c.*576C>G (n.*576C>G) c.8840C>G (p.Ser2947Cys) c.*771C>G (n.*771C>G) c.9158C>G (p.Ser3053Cys) c.1625C>G (p.Ser542Cys) n.1336C>G c.9217C>G (n.9217C>G) c.2087C>G c.92C>G (p.Ser31Cys) c.166C>G c.9113C>G (p.Ser3038Cys) | ClinVar dbSNP gnomAD v4 |
13 | g.32380098C>T | CA026034 | BRCA2 | c.9209C>T (p.Ser3070Phe) c.*576C>T (n.*576C>T) c.8840C>T (p.Ser2947Phe) c.*771C>T (n.*771C>T) c.9158C>T (p.Ser3053Phe) c.1625C>T (p.Ser542Phe) n.1336C>T c.9217C>T (n.9217C>T) c.2087C>T c.92C>T (p.Ser31Phe) c.166C>T c.9113C>T (p.Ser3038Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32380098dup | CA915948622 | BRCA2 | c.9209dup (p.Glu3071Ter) c.*576dup (n.*576dup) c.8840dup (p.Glu2948Ter) c.*771dup (n.*771dup) c.9158dup (p.Glu3054Ter) c.1625dup (p.Glu543Ter) n.1336dup c.9217dup (n.9217dup) c.2087dup c.92dup (p.Glu32Ter) c.166dup c.9113dup (p.Glu3039Ter) | ClinVar dbSNP |
13 | g.32380099T>A | CA483262100 | BRCA2 | c.9210T>A (p.Ser3070=) c.*577T>A (n.*577T>A) c.8841T>A (p.Ser2947=) c.*772T>A (n.*772T>A) c.9159T>A (p.Ser3053=) c.1626T>A (p.Ser542=) n.1337T>A c.9218T>A (n.9218T>A) c.2088T>A c.93T>A (p.Ser31=) c.167T>A c.9114T>A (p.Ser3038=) | ClinVar |
13 | g.32380099T>C | CA483262101 | BRCA2 | c.9210T>C (p.Ser3070=) c.*577T>C (n.*577T>C) c.8841T>C (p.Ser2947=) c.*772T>C (n.*772T>C) c.9159T>C (p.Ser3053=) c.1626T>C (p.Ser542=) n.1337T>C c.9218T>C (n.9218T>C) c.2088T>C c.93T>C (p.Ser31=) c.167T>C c.9114T>C (p.Ser3038=) | ClinVar dbSNP |
13 | g.32380099T>G | CA483262102 | BRCA2 | c.9210T>G (p.Ser3070=) c.*577T>G (n.*577T>G) c.8841T>G (p.Ser2947=) c.*772T>G (n.*772T>G) c.9159T>G (p.Ser3053=) c.1626T>G (p.Ser542=) n.1337T>G c.9218T>G (n.9218T>G) c.2088T>G c.93T>G (p.Ser31=) c.167T>G c.9114T>G (p.Ser3038=) | |
13 | g.32380099T= | CA2082840834 | BRCA2 | c.9210T= (p.Ser3070=) c.*577T= (n.*577T=) c.8841T= (p.Ser2947=) c.*772T= (n.*772T=) c.9159T= (p.Ser3053=) c.1626T= (p.Ser542=) n.1337T= c.9218T= (n.9218T=) c.2088T= c.93T= (p.Ser31=) c.167T= c.9114T= (p.Ser3038=) | |
13 | g.32380100G>A | CA387758357 | BRCA2 | c.9211G>A (p.Glu3071Lys) c.*578G>A (n.*578G>A) c.8842G>A (p.Glu2948Lys) c.*773G>A (n.*773G>A) c.9160G>A (p.Glu3054Lys) c.1627G>A (p.Glu543Lys) n.1338G>A c.9219G>A (n.9219G>A) c.2089G>A c.94G>A (p.Glu32Lys) c.168G>A c.9115G>A (p.Glu3039Lys) | ClinVar dbSNP |
13 | g.32380100G>C | CA387758349 | BRCA2 | c.9211G>C (p.Glu3071Gln) c.*578G>C (n.*578G>C) c.8842G>C (p.Glu2948Gln) c.*773G>C (n.*773G>C) c.9160G>C (p.Glu3054Gln) c.1627G>C (p.Glu543Gln) n.1338G>C c.9219G>C (n.9219G>C) c.2089G>C c.94G>C (p.Glu32Gln) c.168G>C c.9115G>C (p.Glu3039Gln) | ClinVar dbSNP |
13 | g.32380100G= | CA2082840848 | BRCA2 | c.9211G= (p.Glu3071=) c.*578G= (n.*578G=) c.8842G= (p.Glu2948=) c.*773G= (n.*773G=) c.9160G= (p.Glu3054=) c.1627G= (p.Glu543=) n.1338G= c.9219G= (n.9219G=) c.2089G= c.94G= (p.Glu32=) c.168G= c.9115G= (p.Glu3039=) | |
13 | g.32380100G>T | CA387758353 | BRCA2 | c.9211G>T (p.Glu3071Ter) c.*578G>T (n.*578G>T) c.8842G>T (p.Glu2948Ter) c.*773G>T (n.*773G>T) c.9160G>T (p.Glu3054Ter) c.1627G>T (p.Glu543Ter) n.1338G>T c.9219G>T (n.9219G>T) c.2089G>T c.94G>T (p.Glu32Ter) c.168G>T c.9115G>T (p.Glu3039Ter) | |
13 | g.32380101A>C | CA387758364 | BRCA2 | c.9212A>C (p.Glu3071Ala) c.*579A>C (n.*579A>C) c.8843A>C (p.Glu2948Ala) c.*774A>C (n.*774A>C) c.9161A>C (p.Glu3054Ala) c.1628A>C (p.Glu543Ala) n.1339A>C c.9220A>C (n.9220A>C) c.2090A>C c.95A>C (p.Glu32Ala) c.169A>C c.9116A>C (p.Glu3039Ala) | |
13 | g.32380101A>G | CA387758368 | BRCA2 | c.9212A>G (p.Glu3071Gly) c.*579A>G (n.*579A>G) c.8843A>G (p.Glu2948Gly) c.*774A>G (n.*774A>G) c.9161A>G (p.Glu3054Gly) c.1628A>G (p.Glu543Gly) n.1339A>G c.9220A>G (n.9220A>G) c.2090A>G c.95A>G (p.Glu32Gly) c.169A>G c.9116A>G (p.Glu3039Gly) | |
13 | g.32380101A>T | CA387758373 | BRCA2 | c.9212A>T (p.Glu3071Val) c.*579A>T (n.*579A>T) c.8843A>T (p.Glu2948Val) c.*774A>T (n.*774A>T) c.9161A>T (p.Glu3054Val) c.1628A>T (p.Glu543Val) n.1339A>T c.9220A>T (n.9220A>T) c.2090A>T c.95A>T (p.Glu32Val) c.169A>T c.9116A>T (p.Glu3039Val) | ClinVar dbSNP |
13 | g.32380101dup | CA658656438 | BRCA2 | c.9212dup (p.Val3072GlyfsTer?) c.*579dup (n.*579dup) c.8843dup (p.Val2949GlyfsTer?) c.*774dup (n.*774dup) c.9161dup (p.Val3055GlyfsTer?) c.1628dup (p.Val544GlyfsTer?) n.1339dup c.9220dup (n.9220dup) c.2090dup c.95dup (p.Val33GlyfsTer?) c.169dup c.9116dup (p.Val3040GlyfsTer?) | ClinVar dbSNP |
13 | g.32380102G>A | CA483262105 | BRCA2 | c.9213G>A (p.Glu3071=) c.*580G>A (n.*580G>A) c.8844G>A (p.Glu2948=) c.*775G>A (n.*775G>A) c.9162G>A (p.Glu3054=) c.1629G>A (p.Glu543=) n.1340G>A c.9221G>A (n.9221G>A) c.2091G>A c.96G>A (p.Glu32=) c.170G>A c.9117G>A (p.Glu3039=) | dbSNP |
13 | g.32380102G>C | CA387758382 | BRCA2 | c.9213G>C (p.Glu3071Asp) c.*580G>C (n.*580G>C) c.8844G>C (p.Glu2948Asp) c.*775G>C (n.*775G>C) c.9162G>C (p.Glu3054Asp) c.1629G>C (p.Glu543Asp) n.1340G>C c.9221G>C (n.9221G>C) c.2091G>C c.96G>C (p.Glu32Asp) c.170G>C c.9117G>C (p.Glu3039Asp) | dbSNP |
13 | g.32380102G= | CA2082840864 | BRCA2 | c.9213G= (p.Glu3071=) c.*580G= (n.*580G=) c.8844G= (p.Glu2948=) c.*775G= (n.*775G=) c.9162G= (p.Glu3054=) c.1629G= (p.Glu543=) n.1340G= c.9221G= (n.9221G=) c.2091G= c.96G= (p.Glu32=) c.170G= c.9117G= (p.Glu3039=) | |
13 | g.32380102G>T | CA026035 | BRCA2 | c.9213G>T (p.Glu3071Asp) c.*580G>T (n.*580G>T) c.8844G>T (p.Glu2948Asp) c.*775G>T (n.*775G>T) c.9162G>T (p.Glu3054Asp) c.1629G>T (p.Glu543Asp) n.1340G>T c.9221G>T (n.9221G>T) c.2091G>T c.96G>T (p.Glu32Asp) c.170G>T c.9117G>T (p.Glu3039Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32380103G>A | CA387758390 | BRCA2 | c.9214G>A (p.Val3072Met) c.*581G>A (n.*581G>A) c.8845G>A (p.Val2949Met) c.*776G>A (n.*776G>A) c.9163G>A (p.Val3055Met) c.1630G>A (p.Val544Met) n.1341G>A c.9222G>A (n.9222G>A) c.2092G>A c.97G>A (p.Val33Met) c.171G>A c.9118G>A (p.Val3040Met) | dbSNP |
13 | g.32380103G>C | CA387758392 | BRCA2 | c.9214G>C (p.Val3072Leu) c.*581G>C (n.*581G>C) c.8845G>C (p.Val2949Leu) c.*776G>C (n.*776G>C) c.9163G>C (p.Val3055Leu) c.1630G>C (p.Val544Leu) n.1341G>C c.9222G>C (n.9222G>C) c.2092G>C c.97G>C (p.Val33Leu) c.171G>C c.9118G>C (p.Val3040Leu) | dbSNP |
13 | g.32380103G>T | CA387758396 | BRCA2 | c.9214G>T (p.Val3072Leu) c.*581G>T (n.*581G>T) c.8845G>T (p.Val2949Leu) c.*776G>T (n.*776G>T) c.9163G>T (p.Val3055Leu) c.1630G>T (p.Val544Leu) n.1341G>T c.9222G>T (n.9222G>T) c.2092G>T c.97G>T (p.Val33Leu) c.171G>T c.9118G>T (p.Val3040Leu) | dbSNP |
13 | g.32380104T>A | CA026036 | BRCA2 | c.9215T>A (p.Val3072Glu) c.*582T>A (n.*582T>A) c.8846T>A (p.Val2949Glu) c.*777T>A (n.*777T>A) c.9164T>A (p.Val3055Glu) c.1631T>A (p.Val544Glu) n.1342T>A c.9223T>A (n.9223T>A) c.2093T>A c.98T>A (p.Val33Glu) c.172T>A c.9119T>A (p.Val3040Glu) | ClinVar dbSNP |
13 | g.32380104T>C | CA387758401 | BRCA2 | c.9215T>C (p.Val3072Ala) c.*582T>C (n.*582T>C) c.8846T>C (p.Val2949Ala) c.*777T>C (n.*777T>C) c.9164T>C (p.Val3055Ala) c.1631T>C (p.Val544Ala) n.1342T>C c.9223T>C (n.9223T>C) c.2093T>C c.98T>C (p.Val33Ala) c.172T>C c.9119T>C (p.Val3040Ala) | |
13 | g.32380104T>G | CA387758402 | BRCA2 | c.9215T>G (p.Val3072Gly) c.*582T>G (n.*582T>G) c.8846T>G (p.Val2949Gly) c.*777T>G (n.*777T>G) c.9164T>G (p.Val3055Gly) c.1631T>G (p.Val544Gly) n.1342T>G c.9223T>G (n.9223T>G) c.2093T>G c.98T>G (p.Val33Gly) c.172T>G c.9119T>G (p.Val3040Gly) | |
13 | g.32380104T= | CA2082840877 | BRCA2 | c.9215T= (p.Val3072=) c.*582T= (n.*582T=) c.8846T= (p.Val2949=) c.*777T= (n.*777T=) c.9164T= (p.Val3055=) c.1631T= (p.Val544=) n.1342T= c.9223T= (n.9223T=) c.2093T= c.98T= (p.Val33=) c.172T= c.9119T= (p.Val3040=) | |
13 | g.32380104_32380114delinsTGGACCTAATA | CA2082840887 | BRCA2 | c.9215_9225delinsTGGACCTAATA (p.Val3072=) c.*582_*592delinsTGGACCTAATA (n.*582_*592delinsTGGACCTAATA) c.8846_8856delinsTGGACCTAATA (p.Val2949=) c.*777_*787delinsTGGACCTAATA (n.*777_*787delinsTGGACCTAATA) c.9164_9174delinsTGGACCTAATA (p.Val3055=) c.1631_1641delinsTGGACCTAATA (p.Val544=) n.1342_1352delinsTGGACCTAATA c.9223_9233delinsTGGACCTAATA (n.9223_9233delinsTGGACCTAATA) c.2093_2103delinsTGGACCTAATA c.98_108delinsTGGACCTAATA (p.Val33=) c.172_182delinsTGGACCTAATA c.9119_9129delinsTGGACCTAATA (p.Val3040=) | |
13 | g.32380105G>A | CA6941356 | BRCA2 | c.9216G>A (p.Val3072=) c.*583G>A (n.*583G>A) c.8847G>A (p.Val2949=) c.*778G>A (n.*778G>A) c.9165G>A (p.Val3055=) c.1632G>A (p.Val544=) n.1343G>A c.9224G>A (n.9224G>A) c.2094G>A c.99G>A (p.Val33=) c.173G>A c.9120G>A (p.Val3040=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32380105G>C | CA483262107 | BRCA2 | c.9216G>C (p.Val3072=) c.*583G>C (n.*583G>C) c.8847G>C (p.Val2949=) c.*778G>C (n.*778G>C) c.9165G>C (p.Val3055=) c.1632G>C (p.Val544=) n.1343G>C c.9224G>C (n.9224G>C) c.2094G>C c.99G>C (p.Val33=) c.173G>C c.9120G>C (p.Val3040=) | dbSNP |
13 | g.32380105G= | CA2082840895 | BRCA2 | c.9216G= (p.Val3072=) c.*583G= (n.*583G=) c.8847G= (p.Val2949=) c.*778G= (n.*778G=) c.9165G= (p.Val3055=) c.1632G= (p.Val544=) n.1343G= c.9224G= (n.9224G=) c.2094G= c.99G= (p.Val33=) c.173G= c.9120G= (p.Val3040=) | |
13 | g.32380105G>T | CA483262108 | BRCA2 | c.9216G>T (p.Val3072=) c.*583G>T (n.*583G>T) c.8847G>T (p.Val2949=) c.*778G>T (n.*778G>T) c.9165G>T (p.Val3055=) c.1632G>T (p.Val544=) n.1343G>T c.9224G>T (n.9224G>T) c.2094G>T c.99G>T (p.Val33=) c.173G>T c.9120G>T (p.Val3040=) | dbSNP |
13 | g.32380105_32380106insTAG | CA2622601890 | BRCA2 | c.9216_9217insTAG c.*583_*584insTAG (n.*583_*584insTAG) c.8847_8848insTAG c.*778_*779insTAG (n.*778_*779insTAG) c.9165_9166insTAG c.1632_1633insTAG n.1343_1344insTAG c.9224_9225insTAG (n.9224_9225insTAG) c.2094_2095insTAG c.99_100insTAG c.173_174insTAG c.9120_9121insTAG | gnomAD v4 |
13 | g.32380108_32380117del | CA658656440 | BRCA2 | c.9219_9228del (p.Ile3075SerfsTer5) c.*586_*595del (n.*586_*595del) c.8850_8859del (p.Ile2952SerfsTer5) c.*781_*790del (n.*781_*790del) c.9168_9177del (p.Ile3058SerfsTer5) c.1635_1644del (p.Ile547SerfsTer5) n.1346_1355del c.9227_9236del (n.9227_9236del) c.2097_2106del c.102_111del (p.Ile36SerfsTer5) c.176_185del c.9123_9132del (p.Ile3043SerfsTer5) | ClinVar dbSNP |
13 | g.32380106G>A | CA387758407 | BRCA2 | c.9217G>A (p.Asp3073Asn) c.*584G>A (n.*584G>A) c.8848G>A (p.Asp2950Asn) c.*779G>A (n.*779G>A) c.9166G>A (p.Asp3056Asn) c.1633G>A (p.Asp545Asn) n.1344G>A c.9225G>A (n.9225G>A) c.2095G>A c.100G>A (p.Asp34Asn) c.174G>A c.9121G>A (p.Asp3041Asn) | dbSNP |
13 | g.32380106G>C | CA387758403 | BRCA2 | c.9217G>C (p.Asp3073His) c.*584G>C (n.*584G>C) c.8848G>C (p.Asp2950His) c.*779G>C (n.*779G>C) c.9166G>C (p.Asp3056His) c.1633G>C (p.Asp545His) n.1344G>C c.9225G>C (n.9225G>C) c.2095G>C c.100G>C (p.Asp34His) c.174G>C c.9121G>C (p.Asp3041His) | dbSNP |
13 | g.32380106G= | CA2082840907 | BRCA2 | c.9217G= (p.Asp3073=) c.*584G= (n.*584G=) c.8848G= (p.Asp2950=) c.*779G= (n.*779G=) c.9166G= (p.Asp3056=) c.1633G= (p.Asp545=) n.1344G= c.9225G= (n.9225G=) c.2095G= c.100G= (p.Asp34=) c.174G= c.9121G= (p.Asp3041=) | |
13 | g.32380106G>T | CA10579818 | BRCA2 | c.9217G>T (p.Asp3073Tyr) c.*584G>T (n.*584G>T) c.8848G>T (p.Asp2950Tyr) c.*779G>T (n.*779G>T) c.9166G>T (p.Asp3056Tyr) c.1633G>T (p.Asp545Tyr) n.1344G>T c.9225G>T (n.9225G>T) c.2095G>T c.100G>T (p.Asp34Tyr) c.174G>T c.9121G>T (p.Asp3041Tyr) | ClinVar dbSNP |
13 | g.32380107A= | CA2082840923 | BRCA2 | c.9218A= (p.Asp3073=) c.*585A= (n.*585A=) c.8849A= (p.Asp2950=) c.*780A= (n.*780A=) c.9167A= (p.Asp3056=) c.1634A= (p.Asp545=) n.1345A= c.9226A= (n.9226A=) c.2096A= c.101A= (p.Asp34=) c.175A= c.9122A= (p.Asp3041=) | |
13 | g.32380107A>C | CA387758417 | BRCA2 | c.9218A>C (p.Asp3073Ala) c.*585A>C (n.*585A>C) c.8849A>C (p.Asp2950Ala) c.*780A>C (n.*780A>C) c.9167A>C (p.Asp3056Ala) c.1634A>C (p.Asp545Ala) n.1345A>C c.9226A>C (n.9226A>C) c.2096A>C c.101A>C (p.Asp34Ala) c.175A>C c.9122A>C (p.Asp3041Ala) | ClinVar dbSNP |
13 | g.32380107A>G | CA026037 | BRCA2 | c.9218A>G (p.Asp3073Gly) c.*585A>G (n.*585A>G) c.8849A>G (p.Asp2950Gly) c.*780A>G (n.*780A>G) c.9167A>G (p.Asp3056Gly) c.1634A>G (p.Asp545Gly) n.1345A>G c.9226A>G (n.9226A>G) c.2096A>G c.101A>G (p.Asp34Gly) c.175A>G c.9122A>G (p.Asp3041Gly) | ClinVar dbSNP ExAC gnomAD v2 |
13 | g.32380107A>T | CA387758420 | BRCA2 | c.9218A>T (p.Asp3073Val) c.*585A>T (n.*585A>T) c.8849A>T (p.Asp2950Val) c.*780A>T (n.*780A>T) c.9167A>T (p.Asp3056Val) c.1634A>T (p.Asp545Val) n.1345A>T c.9226A>T (n.9226A>T) c.2096A>T c.101A>T (p.Asp34Val) c.175A>T c.9122A>T (p.Asp3041Val) | dbSNP |
13 | g.32380107_32380108insTTTA | CA658823636 | BRCA2 | c.9218_9219insTTTA (p.Ile3075ProfsTer?) c.*585_*586insTTTA (n.*585_*586insTTTA) c.8849_8850insTTTA (p.Ile2952ProfsTer?) c.*780_*781insTTTA (n.*780_*781insTTTA) c.9167_9168insTTTA (p.Ile3058ProfsTer?) c.1634_1635insTTTA (p.Ile547ProfsTer?) n.1345_1346insTTTA c.9226_9227insTTTA (n.9226_9227insTTTA) c.2096_2097insTTTA c.101_102insTTTA (p.Ile36ProfsTer?) c.175_176insTTTA c.9122_9123insTTTA (p.Ile3043ProfsTer?) | ClinVar dbSNP |
13 | g.32380107_32380108insATTT | CA10589553 | BRCA2 | c.9218_9219insATTT (p.Asp3073GlufsTer?) c.*585_*586insATTT (n.*585_*586insATTT) c.8849_8850insATTT (p.Asp2950GlufsTer?) c.*780_*781insATTT (n.*780_*781insATTT) c.9167_9168insATTT (p.Asp3056GlufsTer?) c.1634_1635insATTT (p.Asp545GlufsTer?) n.1345_1346insATTT c.9226_9227insATTT (n.9226_9227insATTT) c.2096_2097insATTT c.101_102insATTT (p.Asp34GlufsTer?) c.175_176insATTT c.9122_9123insATTT (p.Asp3041GlufsTer?) | ClinVar dbSNP |
13 | g.32380108C>A | CA387758426 | BRCA2 | c.9219C>A (p.Asp3073Glu) c.*586C>A (n.*586C>A) c.8850C>A (p.Asp2950Glu) c.*781C>A (n.*781C>A) c.9168C>A (p.Asp3056Glu) c.1635C>A (p.Asp545Glu) n.1346C>A c.9227C>A (n.9227C>A) c.2097C>A c.102C>A (p.Asp34Glu) c.176C>A c.9123C>A (p.Asp3041Glu) | dbSNP |
13 | g.32380108C>G | CA387758433 | BRCA2 | c.9219C>G (p.Asp3073Glu) c.*586C>G (n.*586C>G) c.8850C>G (p.Asp2950Glu) c.*781C>G (n.*781C>G) c.9168C>G (p.Asp3056Glu) c.1635C>G (p.Asp545Glu) n.1346C>G c.9227C>G (n.9227C>G) c.2097C>G c.102C>G (p.Asp34Glu) c.176C>G c.9123C>G (p.Asp3041Glu) | dbSNP |
13 | g.32380108C>T | CA483262110 | BRCA2 | c.9219C>T (p.Asp3073=) c.*586C>T (n.*586C>T) c.8850C>T (p.Asp2950=) c.*781C>T (n.*781C>T) c.9168C>T (p.Asp3056=) c.1635C>T (p.Asp545=) n.1346C>T c.9227C>T (n.9227C>T) c.2097C>T c.102C>T (p.Asp34=) c.176C>T c.9123C>T (p.Asp3041=) | ClinVar dbSNP gnomAD v4 |
13 | g.32380109C>A | CA387758437 | BRCA2 | c.9220C>A (p.Leu3074Ile) c.*587C>A (n.*587C>A) c.8851C>A (p.Leu2951Ile) c.*782C>A (n.*782C>A) c.9169C>A (p.Leu3057Ile) c.1636C>A (p.Leu546Ile) n.1347C>A c.9228C>A (n.9228C>A) c.2098C>A c.103C>A (p.Leu35Ile) c.177C>A c.9124C>A (p.Leu3042Ile) | dbSNP |
13 | g.32380109C= | CA2082840937 | BRCA2 | c.9220C= (p.Leu3074=) c.*587C= (n.*587C=) c.8851C= (p.Leu2951=) c.*782C= (n.*782C=) c.9169C= (p.Leu3057=) c.1636C= (p.Leu546=) n.1347C= c.9228C= (n.9228C=) c.2098C= c.103C= (p.Leu35=) c.177C= c.9124C= (p.Leu3042=) | |
13 | g.32380109C>G | CA387758445 | BRCA2 | c.9220C>G (p.Leu3074Val) c.*587C>G (n.*587C>G) c.8851C>G (p.Leu2951Val) c.*782C>G (n.*782C>G) c.9169C>G (p.Leu3057Val) c.1636C>G (p.Leu546Val) n.1347C>G c.9228C>G (n.9228C>G) c.2098C>G c.103C>G (p.Leu35Val) c.177C>G c.9124C>G (p.Leu3042Val) | ClinVar dbSNP |
13 | g.32380109C>T | CA6941357 | BRCA2 | c.9220C>T (p.Leu3074=) c.*587C>T (n.*587C>T) c.8851C>T (p.Leu2951=) c.*782C>T (n.*782C>T) c.9169C>T (p.Leu3057=) c.1636C>T (p.Leu546=) n.1347C>T c.9228C>T (n.9228C>T) c.2098C>T c.103C>T (p.Leu35=) c.177C>T c.9124C>T (p.Leu3042=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
13 | g.32380110T>A | CA387758449 | BRCA2 | c.9221T>A (p.Leu3074Gln) c.*588T>A (n.*588T>A) c.8852T>A (p.Leu2951Gln) c.*783T>A (n.*783T>A) c.9170T>A (p.Leu3057Gln) c.1637T>A (p.Leu546Gln) n.1348T>A c.9229T>A (n.9229T>A) c.2099T>A c.104T>A (p.Leu35Gln) c.178T>A c.9125T>A (p.Leu3042Gln) | |
13 | g.32380110T>C | CA387758451 | BRCA2 | c.9221T>C (p.Leu3074Pro) c.*588T>C (n.*588T>C) c.8852T>C (p.Leu2951Pro) c.*783T>C (n.*783T>C) c.9170T>C (p.Leu3057Pro) c.1637T>C (p.Leu546Pro) n.1348T>C c.9229T>C (n.9229T>C) c.2099T>C c.104T>C (p.Leu35Pro) c.178T>C c.9125T>C (p.Leu3042Pro) | |
13 | g.32380110T>G | CA387758463 | BRCA2 | c.9221T>G (p.Leu3074Arg) c.*588T>G (n.*588T>G) c.8852T>G (p.Leu2951Arg) c.*783T>G (n.*783T>G) c.9170T>G (p.Leu3057Arg) c.1637T>G (p.Leu546Arg) n.1348T>G c.9229T>G (n.9229T>G) c.2099T>G c.104T>G (p.Leu35Arg) c.178T>G c.9125T>G (p.Leu3042Arg) | ClinVar dbSNP |
13 | g.32380110T= | CA2082840949 | BRCA2 | c.9221T= (p.Leu3074=) c.*588T= (n.*588T=) c.8852T= (p.Leu2951=) c.*783T= (n.*783T=) c.9170T= (p.Leu3057=) c.1637T= (p.Leu546=) n.1348T= c.9229T= (n.9229T=) c.2099T= c.104T= (p.Leu35=) c.178T= c.9125T= (p.Leu3042=) | |
13 | g.32380110dup | CA2695199721 | BRCA2 | c.9221dup (p.Ile3075AsnfsTer?) c.*588dup (n.*588dup) c.8852dup (p.Ile2952AsnfsTer?) c.*783dup (n.*783dup) c.9170dup (p.Ile3058AsnfsTer?) c.1637dup (p.Ile547AsnfsTer?) n.1348dup c.9229dup (n.9229dup) c.2099dup c.104dup (p.Ile36AsnfsTer?) c.178dup c.9125dup (p.Ile3043AsnfsTer?) | ClinVar |
13 | g.32380111A= | CA2082840952 | BRCA2 | c.9222A= (p.Leu3074=) c.*589A= (n.*589A=) c.8853A= (p.Leu2951=) c.*784A= (n.*784A=) c.9171A= (p.Leu3057=) c.1638A= (p.Leu546=) n.1349A= c.9230A= (n.9230A=) c.2100A= c.105A= (p.Leu35=) c.179A= c.9126A= (p.Leu3042=) | |
13 | g.32380111A>C | CA483262114 | BRCA2 | c.9222A>C (p.Leu3074=) c.*589A>C (n.*589A>C) c.8853A>C (p.Leu2951=) c.*784A>C (n.*784A>C) c.9171A>C (p.Leu3057=) c.1638A>C (p.Leu546=) n.1349A>C c.9230A>C (n.9230A>C) c.2100A>C c.105A>C (p.Leu35=) c.179A>C c.9126A>C (p.Leu3042=) | |
13 | g.32380111A>G | CA026038 | BRCA2 | c.9222A>G (p.Leu3074=) c.*589A>G (n.*589A>G) c.8853A>G (p.Leu2951=) c.*784A>G (n.*784A>G) c.9171A>G (p.Leu3057=) c.1638A>G (p.Leu546=) n.1349A>G c.9230A>G (n.9230A>G) c.2100A>G c.105A>G (p.Leu35=) c.179A>G c.9126A>G (p.Leu3042=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32380111A>T | CA483262116 | BRCA2 | c.9222A>T (p.Leu3074=) c.*589A>T (n.*589A>T) c.8853A>T (p.Leu2951=) c.*784A>T (n.*784A>T) c.9171A>T (p.Leu3057=) c.1638A>T (p.Leu546=) n.1349A>T c.9230A>T (n.9230A>T) c.2100A>T c.105A>T (p.Leu35=) c.179A>T c.9126A>T (p.Leu3042=) | dbSNP |
13 | g.32380111_32380112insTT | CA2573053828 | BRCA2 | c.9222_9223insTT (p.Ile3075LeufsTer2) c.*589_*590insTT (n.*589_*590insTT) c.8853_8854insTT (p.Ile2952LeufsTer2) c.*784_*785insTT (n.*784_*785insTT) c.9171_9172insTT (p.Ile3058LeufsTer2) c.1638_1639insTT (p.Ile547LeufsTer2) n.1349_1350insTT c.9230_9231insTT (n.9230_9231insTT) c.2100_2101insTT c.105_106insTT (p.Ile36LeufsTer2) c.179_180insTT c.9126_9127insTT (p.Ile3043LeufsTer2) | ClinVar dbSNP |
13 | g.32380112A>C | CA387758468 | BRCA2 | c.9223A>C (p.Ile3075Leu) c.*590A>C (n.*590A>C) c.8854A>C (p.Ile2952Leu) c.*785A>C (n.*785A>C) c.9172A>C (p.Ile3058Leu) c.1639A>C (p.Ile547Leu) n.1350A>C c.9231A>C (n.9231A>C) c.2101A>C c.106A>C (p.Ile36Leu) c.180A>C c.9127A>C (p.Ile3043Leu) | |
13 | g.32380112A>G | CA387758480 | BRCA2 | c.9223A>G (p.Ile3075Val) c.*590A>G (n.*590A>G) c.8854A>G (p.Ile2952Val) c.*785A>G (n.*785A>G) c.9172A>G (p.Ile3058Val) c.1639A>G (p.Ile547Val) n.1350A>G c.9231A>G (n.9231A>G) c.2101A>G c.106A>G (p.Ile36Val) c.180A>G c.9127A>G (p.Ile3043Val) | ClinVar |
13 | g.32380112A>T | CA387758472 | BRCA2 | c.9223A>T (p.Ile3075Leu) c.*590A>T (n.*590A>T) c.8854A>T (p.Ile2952Leu) c.*785A>T (n.*785A>T) c.9172A>T (p.Ile3058Leu) c.1639A>T (p.Ile547Leu) n.1350A>T c.9231A>T (n.9231A>T) c.2101A>T c.106A>T (p.Ile36Leu) c.180A>T c.9127A>T (p.Ile3043Leu) | dbSNP |
13 | g.32380113T>A | CA387758482 | BRCA2 | c.9224T>A (p.Ile3075Lys) c.*591T>A (n.*591T>A) c.8855T>A (p.Ile2952Lys) c.*786T>A (n.*786T>A) c.9173T>A (p.Ile3058Lys) c.1640T>A (p.Ile547Lys) n.1351T>A c.9232T>A (n.9232T>A) c.2102T>A c.107T>A (p.Ile36Lys) c.181T>A c.9128T>A (p.Ile3043Lys) | ClinVar dbSNP |
13 | g.32380113T>C | CA387758487 | BRCA2 | c.9224T>C (p.Ile3075Thr) c.*591T>C (n.*591T>C) c.8855T>C (p.Ile2952Thr) c.*786T>C (n.*786T>C) c.9173T>C (p.Ile3058Thr) c.1640T>C (p.Ile547Thr) n.1351T>C c.9232T>C (n.9232T>C) c.2102T>C c.107T>C (p.Ile36Thr) c.181T>C c.9128T>C (p.Ile3043Thr) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.32380113T>G | CA387758491 | BRCA2 | c.9224T>G (p.Ile3075Arg) c.*591T>G (n.*591T>G) c.8855T>G (p.Ile2952Arg) c.*786T>G (n.*786T>G) c.9173T>G (p.Ile3058Arg) c.1640T>G (p.Ile547Arg) n.1351T>G c.9232T>G (n.9232T>G) c.2102T>G c.107T>G (p.Ile36Arg) c.181T>G c.9128T>G (p.Ile3043Arg) | |
13 | g.32380113T= | CA2082840959 | BRCA2 | c.9224T= (p.Ile3075=) c.*591T= (n.*591T=) c.8855T= (p.Ile2952=) c.*786T= (n.*786T=) c.9173T= (p.Ile3058=) c.1640T= (p.Ile547=) n.1351T= c.9232T= (n.9232T=) c.2102T= c.107T= (p.Ile36=) c.181T= c.9128T= (p.Ile3043=) | |
13 | g.32380114A>C | CA483262119 | BRCA2 | c.9225A>C (p.Ile3075=) c.*592A>C (n.*592A>C) c.8856A>C (p.Ile2952=) c.*787A>C (n.*787A>C) c.9174A>C (p.Ile3058=) c.1641A>C (p.Ile547=) n.1352A>C c.9233A>C (n.9233A>C) c.2103A>C c.108A>C (p.Ile36=) c.182A>C c.9129A>C (p.Ile3043=) | |
13 | g.32380114A>G | CA387758495 | BRCA2 | c.9225A>G (p.Ile3075Met) c.*592A>G (n.*592A>G) c.8856A>G (p.Ile2952Met) c.*787A>G (n.*787A>G) c.9174A>G (p.Ile3058Met) c.1641A>G (p.Ile547Met) n.1352A>G c.9233A>G (n.9233A>G) c.2103A>G c.108A>G (p.Ile36Met) c.182A>G c.9129A>G (p.Ile3043Met) | ClinVar dbSNP gnomAD v4 |
13 | g.32380114A>T | CA483262121 | BRCA2 | c.9225A>T (p.Ile3075=) c.*592A>T (n.*592A>T) c.8856A>T (p.Ile2952=) c.*787A>T (n.*787A>T) c.9174A>T (p.Ile3058=) c.1641A>T (p.Ile547=) n.1352A>T c.9233A>T (n.9233A>T) c.2103A>T c.108A>T (p.Ile36=) c.182A>T c.9129A>T (p.Ile3043=) | dbSNP |
13 | g.32380114dup | CA658656443 | BRCA2 | c.9225dup (p.Gly3076ArgfsTer?) c.*592dup (n.*592dup) c.8856dup (p.Gly2953ArgfsTer?) c.*787dup (n.*787dup) c.9174dup (p.Gly3059ArgfsTer?) c.1641dup (p.Gly548ArgfsTer?) n.1352dup c.9233dup (n.9233dup) c.2103dup c.108dup (p.Gly37ArgfsTer?) c.182dup c.9129dup (p.Gly3044ArgfsTer?) | ClinVar dbSNP |
13 | g.32380114_32380115delinsAG | CA2082840971 | BRCA2 | c.9225_9226delinsAG (p.Ile3075=) c.*592_*593delinsAG (n.*592_*593delinsAG) c.8856_8857delinsAG (p.Ile2952=) c.*787_*788delinsAG (n.*787_*788delinsAG) c.9174_9175delinsAG (p.Ile3058=) c.1641_1642delinsAG (p.Ile547=) n.1352_1353delinsAG c.9233_9234delinsAG (n.9233_9234delinsAG) c.2103_2104delinsAG c.108_109delinsAG (p.Ile36=) c.182_183delinsAG c.9129_9130delinsAG (p.Ile3043=) | |
13 | g.32380120_32380121insCAGGATTT | CA2739277527 | BRCA2 | c.9231_9232insCAGGATTT (p.Val3078GlnfsTer8) c.*598_*599insCAGGATTT (n.*598_*599insCAGGATTT) c.8862_8863insCAGGATTT (p.Val2955GlnfsTer8) c.*793_*794insCAGGATTT (n.*793_*794insCAGGATTT) c.9180_9181insCAGGATTT (p.Val3061GlnfsTer8) c.1647_1648insCAGGATTT (p.Val550GlnfsTer8) n.1358_1359insCAGGATTT c.9239_9240insCAGGATTT (n.9239_9240insCAGGATTT) c.2109_2110insCAGGATTT c.114_115insCAGGATTT (p.Val39GlnfsTer8) c.188_189insCAGGATTT c.9135_9136insCAGGATTT (p.Val3046GlnfsTer8) | ClinVar |
13 | g.32380115G>A | CA387758500 | BRCA2 | c.9226G>A (p.Gly3076Arg) c.*593G>A (n.*593G>A) c.8857G>A (p.Gly2953Arg) c.*788G>A (n.*788G>A) c.9175G>A (p.Gly3059Arg) c.1642G>A (p.Gly548Arg) n.1353G>A c.9234G>A (n.9234G>A) c.2104G>A c.109G>A (p.Gly37Arg) c.183G>A c.9130G>A (p.Gly3044Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.32380115G>C | CA387758502 | BRCA2 | c.9226G>C (p.Gly3076Arg) c.*593G>C (n.*593G>C) c.8857G>C (p.Gly2953Arg) c.*788G>C (n.*788G>C) c.9175G>C (p.Gly3059Arg) c.1642G>C (p.Gly548Arg) n.1353G>C c.9234G>C (n.9234G>C) c.2104G>C c.109G>C (p.Gly37Arg) c.183G>C c.9130G>C (p.Gly3044Arg) | ClinVar dbSNP |
13 | g.32380115G= | CA2082840985 | BRCA2 | c.9226G= (p.Gly3076=) c.*593G= (n.*593G=) c.8857G= (p.Gly2953=) c.*788G= (n.*788G=) c.9175G= (p.Gly3059=) c.1642G= (p.Gly548=) n.1353G= c.9234G= (n.9234G=) c.2104G= c.109G= (p.Gly37=) c.183G= c.9130G= (p.Gly3044=) | |
13 | g.32380115G>T | CA387758505 | BRCA2 | c.9226G>T (p.Gly3076Ter) c.*593G>T (n.*593G>T) c.8857G>T (p.Gly2953Ter) c.*788G>T (n.*788G>T) c.9175G>T (p.Gly3059Ter) c.1642G>T (p.Gly548Ter) n.1353G>T c.9234G>T (n.9234G>T) c.2104G>T c.109G>T (p.Gly37Ter) c.183G>T c.9130G>T (p.Gly3044Ter) | ClinVar dbSNP |
13 | g.32380116del | CA026039 | BRCA2 | c.9227del (p.Gly3076AspfsTer7) c.*594del (n.*594del) c.8858del (p.Gly2953AspfsTer7) c.*789del (n.*789del) c.9176del (p.Gly3059AspfsTer7) c.1643del (p.Gly548AspfsTer7) n.1354del c.9235del (n.9235del) c.2105del c.110del (p.Gly37AspfsTer7) c.184del c.9131del (p.Gly3044AspfsTer7) | ClinVar dbSNP |
13 | g.32380116G>A | CA026040 | BRCA2 | c.9227G>A (p.Gly3076Glu) c.*594G>A (n.*594G>A) c.8858G>A (p.Gly2953Glu) c.*789G>A (n.*789G>A) c.9176G>A (p.Gly3059Glu) c.1643G>A (p.Gly548Glu) n.1354G>A c.9235G>A (n.9235G>A) c.2105G>A c.110G>A (p.Gly37Glu) c.184G>A c.9131G>A (p.Gly3044Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32380116G>C | CA387758525 | BRCA2 | c.9227G>C (p.Gly3076Ala) c.*594G>C (n.*594G>C) c.8858G>C (p.Gly2953Ala) c.*789G>C (n.*789G>C) c.9176G>C (p.Gly3059Ala) c.1643G>C (p.Gly548Ala) n.1354G>C c.9235G>C (n.9235G>C) c.2105G>C c.110G>C (p.Gly37Ala) c.184G>C c.9131G>C (p.Gly3044Ala) | dbSNP |
13 | g.32380116G= | CA2082840997 | BRCA2 | c.9227G= (p.Gly3076=) c.*594G= (n.*594G=) c.8858G= (p.Gly2953=) c.*789G= (n.*789G=) c.9176G= (p.Gly3059=) c.1643G= (p.Gly548=) n.1354G= c.9235G= (n.9235G=) c.2105G= c.110G= (p.Gly37=) c.184G= c.9131G= (p.Gly3044=) | |
13 | g.32380116G>T | CA026041 | BRCA2 | c.9227G>T (p.Gly3076Val) c.*594G>T (n.*594G>T) c.8858G>T (p.Gly2953Val) c.*789G>T (n.*789G>T) c.9176G>T (p.Gly3059Val) c.1643G>T (p.Gly548Val) n.1354G>T c.9235G>T (n.9235G>T) c.2105G>T c.110G>T (p.Gly37Val) c.184G>T c.9131G>T (p.Gly3044Val) | ClinVar dbSNP |
13 | g.32380117A= | CA2082841005 | BRCA2 | c.9228A= (p.Gly3076=) c.*595A= (n.*595A=) c.8859A= (p.Gly2953=) c.*790A= (n.*790A=) c.9177A= (p.Gly3059=) c.1644A= (p.Gly548=) n.1355A= c.9236A= (n.9236A=) c.2106A= c.111A= (p.Gly37=) c.185A= c.9132A= (p.Gly3044=) | |
13 | g.32380117A>C | CA483262122 | BRCA2 | c.9228A>C (p.Gly3076=) c.*595A>C (n.*595A>C) c.8859A>C (p.Gly2953=) c.*790A>C (n.*790A>C) c.9177A>C (p.Gly3059=) c.1644A>C (p.Gly548=) n.1355A>C c.9236A>C (n.9236A>C) c.2106A>C c.111A>C (p.Gly37=) c.185A>C c.9132A>C (p.Gly3044=) | |
13 | g.32380117A>G | CA483262124 | BRCA2 | c.9228A>G (p.Gly3076=) c.*595A>G (n.*595A>G) c.8859A>G (p.Gly2953=) c.*790A>G (n.*790A>G) c.9177A>G (p.Gly3059=) c.1644A>G (p.Gly548=) n.1355A>G c.9236A>G (n.9236A>G) c.2106A>G c.111A>G (p.Gly37=) c.185A>G c.9132A>G (p.Gly3044=) | |
13 | g.32380117A>T | CA10579819 | BRCA2 | c.9228A>T (p.Gly3076=) c.*595A>T (n.*595A>T) c.8859A>T (p.Gly2953=) c.*790A>T (n.*790A>T) c.9177A>T (p.Gly3059=) c.1644A>T (p.Gly548=) n.1355A>T c.9236A>T (n.9236A>T) c.2106A>T c.111A>T (p.Gly37=) c.185A>T c.9132A>T (p.Gly3044=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32380118T>A | CA387758527 | BRCA2 | c.9229T>A (p.Phe3077Ile) c.*596T>A (n.*596T>A) c.8860T>A (p.Phe2954Ile) c.*791T>A (n.*791T>A) c.9178T>A (p.Phe3060Ile) c.1645T>A (p.Phe549Ile) n.1356T>A c.9237T>A (n.9237T>A) c.2107T>A c.112T>A (p.Phe38Ile) c.186T>A c.9133T>A (p.Phe3045Ile) | |
13 | g.32380118T>C | CA387758532 | BRCA2 | c.9229T>C (p.Phe3077Leu) c.*596T>C (n.*596T>C) c.8860T>C (p.Phe2954Leu) c.*791T>C (n.*791T>C) c.9178T>C (p.Phe3060Leu) c.1645T>C (p.Phe549Leu) n.1356T>C c.9237T>C (n.9237T>C) c.2107T>C c.112T>C (p.Phe38Leu) c.186T>C c.9133T>C (p.Phe3045Leu) | ClinVar dbSNP |
13 | g.32380118T>G | CA387758530 | BRCA2 | c.9229T>G (p.Phe3077Val) c.*596T>G (n.*596T>G) c.8860T>G (p.Phe2954Val) c.*791T>G (n.*791T>G) c.9178T>G (p.Phe3060Val) c.1645T>G (p.Phe549Val) n.1356T>G c.9237T>G (n.9237T>G) c.2107T>G c.112T>G (p.Phe38Val) c.186T>G c.9133T>G (p.Phe3045Val) | dbSNP |
13 | g.32380118T= | CA2082841014 | BRCA2 | c.9229T= (p.Phe3077=) c.*596T= (n.*596T=) c.8860T= (p.Phe2954=) c.*791T= (n.*791T=) c.9178T= (p.Phe3060=) c.1645T= (p.Phe549=) n.1356T= c.9237T= (n.9237T=) c.2107T= c.112T= (p.Phe38=) c.186T= c.9133T= (p.Phe3045=) | |
13 | g.32380119T>A | CA387758535 | BRCA2 | c.9230T>A (p.Phe3077Tyr) c.*597T>A (n.*597T>A) c.8861T>A (p.Phe2954Tyr) c.*792T>A (n.*792T>A) c.9179T>A (p.Phe3060Tyr) c.1646T>A (p.Phe549Tyr) n.1357T>A c.9238T>A (n.9238T>A) c.2108T>A c.113T>A (p.Phe38Tyr) c.187T>A c.9134T>A (p.Phe3045Tyr) | ClinVar dbSNP gnomAD v4 |
13 | g.32380119T>C | CA387758538 | BRCA2 | c.9230T>C (p.Phe3077Ser) c.*597T>C (n.*597T>C) c.8861T>C (p.Phe2954Ser) c.*792T>C (n.*792T>C) c.9179T>C (p.Phe3060Ser) c.1646T>C (p.Phe549Ser) n.1357T>C c.9238T>C (n.9238T>C) c.2108T>C c.113T>C (p.Phe38Ser) c.187T>C c.9134T>C (p.Phe3045Ser) | |
13 | g.32380119T>G | CA387758541 | BRCA2 | c.9230T>G (p.Phe3077Cys) c.*597T>G (n.*597T>G) c.8861T>G (p.Phe2954Cys) c.*792T>G (n.*792T>G) c.9179T>G (p.Phe3060Cys) c.1646T>G (p.Phe549Cys) n.1357T>G c.9238T>G (n.9238T>G) c.2108T>G c.113T>G (p.Phe38Cys) c.187T>G c.9134T>G (p.Phe3045Cys) | |
13 | g.32380119T= | CA2082841022 | BRCA2 | c.9230T= (p.Phe3077=) c.*597T= (n.*597T=) c.8861T= (p.Phe2954=) c.*792T= (n.*792T=) c.9179T= (p.Phe3060=) c.1646T= (p.Phe549=) n.1357T= c.9238T= (n.9238T=) c.2108T= c.113T= (p.Phe38=) c.187T= c.9134T= (p.Phe3045=) | |
13 | g.32380120T>A | CA387758542 | BRCA2 | c.9231T>A (p.Phe3077Leu) c.*598T>A (n.*598T>A) c.8862T>A (p.Phe2954Leu) c.*793T>A (n.*793T>A) c.9180T>A (p.Phe3060Leu) c.1647T>A (p.Phe549Leu) n.1358T>A c.9239T>A (n.9239T>A) c.2109T>A c.114T>A (p.Phe38Leu) c.188T>A c.9135T>A (p.Phe3045Leu) | dbSNP |
13 | g.32380120T>C | CA483262125 | BRCA2 | c.9231T>C (p.Phe3077=) c.*598T>C (n.*598T>C) c.8862T>C (p.Phe2954=) c.*793T>C (n.*793T>C) c.9180T>C (p.Phe3060=) c.1647T>C (p.Phe549=) n.1358T>C c.9239T>C (n.9239T>C) c.2109T>C c.114T>C (p.Phe38=) c.188T>C c.9135T>C (p.Phe3045=) | |
13 | g.32380120T>G | CA387758544 | BRCA2 | c.9231T>G (p.Phe3077Leu) c.*598T>G (n.*598T>G) c.8862T>G (p.Phe2954Leu) c.*793T>G (n.*793T>G) c.9180T>G (p.Phe3060Leu) c.1647T>G (p.Phe549Leu) n.1358T>G c.9239T>G (n.9239T>G) c.2109T>G c.114T>G (p.Phe38Leu) c.188T>G c.9135T>G (p.Phe3045Leu) | |
13 | g.32380120_32380123delinsTGTC | CA2082841032 | BRCA2 | c.9231_9234delinsTGTC (p.Phe3077=) c.*598_*601delinsTGTC (n.*598_*601delinsTGTC) c.8862_8865delinsTGTC (p.Phe2954=) c.*793_*796delinsTGTC (n.*793_*796delinsTGTC) c.9180_9183delinsTGTC (p.Phe3060=) c.1647_1650delinsTGTC (p.Phe549=) n.1358_1361delinsTGTC c.9239_9242delinsTGTC (n.9239_9242delinsTGTC) c.2109_2112delinsTGTC c.114_117delinsTGTC (p.Phe38=) c.188_191delinsTGTC c.9135_9138delinsTGTC (p.Phe3045=) | |
13 | g.32380121G>A | CA387758547 | BRCA2 | c.9232G>A (p.Val3078Ile) c.*599G>A (n.*599G>A) c.8863G>A (p.Val2955Ile) c.*794G>A (n.*794G>A) c.9181G>A (p.Val3061Ile) c.1648G>A (p.Val550Ile) n.1359G>A c.9240G>A (n.9240G>A) c.2110G>A c.115G>A (p.Val39Ile) c.189G>A c.9136G>A (p.Val3046Ile) | dbSNP |
13 | g.32380121G>C | CA387758550 | BRCA2 | c.9232G>C (p.Val3078Leu) c.*599G>C (n.*599G>C) c.8863G>C (p.Val2955Leu) c.*794G>C (n.*794G>C) c.9181G>C (p.Val3061Leu) c.1648G>C (p.Val550Leu) n.1359G>C c.9240G>C (n.9240G>C) c.2110G>C c.115G>C (p.Val39Leu) c.189G>C c.9136G>C (p.Val3046Leu) | dbSNP |
13 | g.32380121G= | CA2082841041 | BRCA2 | c.9232G= (p.Val3078=) c.*599G= (n.*599G=) c.8863G= (p.Val2955=) c.*794G= (n.*794G=) c.9181G= (p.Val3061=) c.1648G= (p.Val550=) n.1359G= c.9240G= (n.9240G=) c.2110G= c.115G= (p.Val39=) c.189G= c.9136G= (p.Val3046=) | |
13 | g.32380121G>T | CA387758553 | BRCA2 | c.9232G>T (p.Val3078Phe) c.*599G>T (n.*599G>T) c.8863G>T (p.Val2955Phe) c.*794G>T (n.*794G>T) c.9181G>T (p.Val3061Phe) c.1648G>T (p.Val550Phe) n.1359G>T c.9240G>T (n.9240G>T) c.2110G>T c.115G>T (p.Val39Phe) c.189G>T c.9136G>T (p.Val3046Phe) | ClinVar dbSNP gnomAD v4 |
13 | g.32380121_32380122delinsGT | CA2082841039 | BRCA2 | c.9232_9233delinsGT (p.Val3078=) c.*599_*600delinsGT (n.*599_*600delinsGT) c.8863_8864delinsGT (p.Val2955=) c.*794_*795delinsGT (n.*794_*795delinsGT) c.9181_9182delinsGT (p.Val3061=) c.1648_1649delinsGT (p.Val550=) n.1359_1360delinsGT c.9240_9241delinsGT (n.9240_9241delinsGT) c.2110_2111delinsGT c.115_116delinsGT (p.Val39=) c.189_190delinsGT c.9136_9137delinsGT (p.Val3046=) | |
13 | g.32380123_32380125del | CA1139663171 | BRCA2 | c.9234_9236del (p.Val3079del) c.*601_*603del (n.*601_*603del) c.8865_8867del (p.Val2956del) c.*796_*798del (n.*796_*798del) c.9183_9185del (p.Val3062del) c.1650_1652del (p.Val551del) n.1361_1363del c.9242_9244del (n.9242_9244del) c.2112_2114del c.117_119del (p.Val40del) c.191_193del c.9138_9140del (p.Val3047del) | ClinVar dbSNP |
13 | g.32380122del | CA10579820 | BRCA2 | c.9233del (p.Val3078AlafsTer5) c.*600del (n.*600del) c.8864del (p.Val2955AlafsTer5) c.*795del (n.*795del) c.9182del (p.Val3061AlafsTer5) c.1649del (p.Val550AlafsTer5) n.1360del c.9241del (n.9241del) c.2111del c.116del (p.Val39AlafsTer5) c.190del c.9137del (p.Val3046AlafsTer5) | ClinVar dbSNP |
13 | g.32380122T>A | CA387758555 | BRCA2 | c.9233T>A (p.Val3078Asp) c.*600T>A (n.*600T>A) c.8864T>A (p.Val2955Asp) c.*795T>A (n.*795T>A) c.9182T>A (p.Val3061Asp) c.1649T>A (p.Val550Asp) n.1360T>A c.9241T>A (n.9241T>A) c.2111T>A c.116T>A (p.Val39Asp) c.190T>A c.9137T>A (p.Val3046Asp) | dbSNP |
13 | g.32380122T>C | CA387758558 | BRCA2 | c.9233T>C (p.Val3078Ala) c.*600T>C (n.*600T>C) c.8864T>C (p.Val2955Ala) c.*795T>C (n.*795T>C) c.9182T>C (p.Val3061Ala) c.1649T>C (p.Val550Ala) n.1360T>C c.9241T>C (n.9241T>C) c.2111T>C c.116T>C (p.Val39Ala) c.190T>C c.9137T>C (p.Val3046Ala) | dbSNP |
13 | g.32380122T>G | CA387758568 | BRCA2 | c.9233T>G (p.Val3078Gly) c.*600T>G (n.*600T>G) c.8864T>G (p.Val2955Gly) c.*795T>G (n.*795T>G) c.9182T>G (p.Val3061Gly) c.1649T>G (p.Val550Gly) n.1360T>G c.9241T>G (n.9241T>G) c.2111T>G c.116T>G (p.Val39Gly) c.190T>G c.9137T>G (p.Val3046Gly) | |
13 | g.32380123C>A | CA483262128 | BRCA2 | c.9234C>A (p.Val3078=) c.*601C>A (n.*601C>A) c.8865C>A (p.Val2955=) c.*796C>A (n.*796C>A) c.9183C>A (p.Val3061=) c.1650C>A (p.Val550=) n.1361C>A c.9242C>A (n.9242C>A) c.2112C>A c.117C>A (p.Val39=) c.191C>A c.9138C>A (p.Val3046=) | dbSNP gnomAD v4 |
13 | g.32380123C= | CA2082841061 | BRCA2 | c.9234C= (p.Val3078=) c.*601C= (n.*601C=) c.8865C= (p.Val2955=) c.*796C= (n.*796C=) c.9183C= (p.Val3061=) c.1650C= (p.Val550=) n.1361C= c.9242C= (n.9242C=) c.2112C= c.117C= (p.Val39=) c.191C= c.9138C= (p.Val3046=) | |
13 | g.32380123C>G | CA483262129 | BRCA2 | c.9234C>G (p.Val3078=) c.*601C>G (n.*601C>G) c.8865C>G (p.Val2955=) c.*796C>G (n.*796C>G) c.9183C>G (p.Val3061=) c.1650C>G (p.Val550=) n.1361C>G c.9242C>G (n.9242C>G) c.2112C>G c.117C>G (p.Val39=) c.191C>G c.9138C>G (p.Val3046=) | ClinVar dbSNP |
13 | g.32380123C>T | CA026042 | BRCA2 | c.9234C>T (p.Val3078=) c.*601C>T (n.*601C>T) c.8865C>T (p.Val2955=) c.*796C>T (n.*796C>T) c.9183C>T (p.Val3061=) c.1650C>T (p.Val550=) n.1361C>T c.9242C>T (n.9242C>T) c.2112C>T c.117C>T (p.Val39=) c.191C>T c.9138C>T (p.Val3046=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32380123_32380124delinsCG | CA2082841060 | BRCA2 | c.9234_9235delinsCG (p.Val3078=) c.*601_*602delinsCG (n.*601_*602delinsCG) c.8865_8866delinsCG (p.Val2955=) c.*796_*797delinsCG (n.*796_*797delinsCG) c.9183_9184delinsCG (p.Val3061=) c.1650_1651delinsCG (p.Val550=) n.1361_1362delinsCG c.9242_9243delinsCG (n.9242_9243delinsCG) c.2112_2113delinsCG c.117_118delinsCG (p.Val39=) c.191_192delinsCG c.9138_9139delinsCG (p.Val3046=) | |
13 | g.32380124del | CA026043 | BRCA2 | c.9235del (p.Val3079PhefsTer4) c.*602del (n.*602del) c.8866del (p.Val2956PhefsTer4) c.*797del (n.*797del) c.9184del (p.Val3062PhefsTer4) c.1651del (p.Val551PhefsTer4) n.1362del c.9243del (n.9243del) c.2113del c.118del (p.Val40PhefsTer4) c.192del c.9139del (p.Val3047PhefsTer4) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32380124G>A | CA026044 | BRCA2 | c.9235G>A (p.Val3079Ile) c.*602G>A (n.*602G>A) c.8866G>A (p.Val2956Ile) c.*797G>A (n.*797G>A) c.9184G>A (p.Val3062Ile) c.1651G>A (p.Val551Ile) n.1362G>A c.9243G>A (n.9243G>A) c.2113G>A c.118G>A (p.Val40Ile) c.192G>A c.9139G>A (p.Val3047Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32380124G>C | CA387758582 | BRCA2 | c.9235G>C (p.Val3079Leu) c.*602G>C (n.*602G>C) c.8866G>C (p.Val2956Leu) c.*797G>C (n.*797G>C) c.9184G>C (p.Val3062Leu) c.1651G>C (p.Val551Leu) n.1362G>C c.9243G>C (n.9243G>C) c.2113G>C c.118G>C (p.Val40Leu) c.192G>C c.9139G>C (p.Val3047Leu) | ClinVar dbSNP |
13 | g.32380124G= | CA2082841077 | BRCA2 | c.9235G= (p.Val3079=) c.*602G= (n.*602G=) c.8866G= (p.Val2956=) c.*797G= (n.*797G=) c.9184G= (p.Val3062=) c.1651G= (p.Val551=) n.1362G= c.9243G= (n.9243G=) c.2113G= c.118G= (p.Val40=) c.192G= c.9139G= (p.Val3047=) | |
13 | g.32380124G>T | CA247495088 | BRCA2 | c.9235G>T (p.Val3079Phe) c.*602G>T (n.*602G>T) c.8866G>T (p.Val2956Phe) c.*797G>T (n.*797G>T) c.9184G>T (p.Val3062Phe) c.1651G>T (p.Val551Phe) n.1362G>T c.9243G>T (n.9243G>T) c.2113G>T c.118G>T (p.Val40Phe) c.192G>T c.9139G>T (p.Val3047Phe) | ClinVar dbSNP |
13 | g.32380125T>A | CA387758586 | BRCA2 | c.9236T>A (p.Val3079Asp) c.*603T>A (n.*603T>A) c.8867T>A (p.Val2956Asp) c.*798T>A (n.*798T>A) c.9185T>A (p.Val3062Asp) c.1652T>A (p.Val551Asp) n.1363T>A c.9244T>A (n.9244T>A) c.2114T>A c.119T>A (p.Val40Asp) c.193T>A c.9140T>A (p.Val3047Asp) | dbSNP |
13 | g.32380125T>C | CA387758587 | BRCA2 | c.9236T>C (p.Val3079Ala) c.*603T>C (n.*603T>C) c.8867T>C (p.Val2956Ala) c.*798T>C (n.*798T>C) c.9185T>C (p.Val3062Ala) c.1652T>C (p.Val551Ala) n.1363T>C c.9244T>C (n.9244T>C) c.2114T>C c.119T>C (p.Val40Ala) c.193T>C c.9140T>C (p.Val3047Ala) | |
13 | g.32380125T>G | CA387758589 | BRCA2 | c.9236T>G (p.Val3079Gly) c.*603T>G (n.*603T>G) c.8867T>G (p.Val2956Gly) c.*798T>G (n.*798T>G) c.9185T>G (p.Val3062Gly) c.1652T>G (p.Val551Gly) n.1363T>G c.9244T>G (n.9244T>G) c.2114T>G c.119T>G (p.Val40Gly) c.193T>G c.9140T>G (p.Val3047Gly) | |
13 | g.32380127del | CA2695217964 | BRCA2 | c.9238del (p.Ser3080LeufsTer3) c.*605del (n.*605del) c.8869del (p.Ser2957LeufsTer3) c.*800del (n.*800del) c.9187del (p.Ser3063LeufsTer3) c.1654del (p.Ser552LeufsTer3) n.1365del c.9246del (n.9246del) c.2116del c.121del (p.Ser41LeufsTer3) c.195del c.9142del (p.Ser3048LeufsTer3) | |
13 | g.32380126T>A | CA483262132 | BRCA2 | c.9237T>A (p.Val3079=) c.*604T>A (n.*604T>A) c.8868T>A (p.Val2956=) c.*799T>A (n.*799T>A) c.9186T>A (p.Val3062=) c.1653T>A (p.Val551=) n.1364T>A c.9245T>A (n.9245T>A) c.2115T>A c.120T>A (p.Val40=) c.194T>A c.9141T>A (p.Val3047=) | dbSNP |
13 | g.32380126T>C | CA026045 | BRCA2 | c.9237T>C (p.Val3079=) c.*604T>C (n.*604T>C) c.8868T>C (p.Val2956=) c.*799T>C (n.*799T>C) c.9186T>C (p.Val3062=) c.1653T>C (p.Val551=) n.1364T>C c.9245T>C (n.9245T>C) c.2115T>C c.120T>C (p.Val40=) c.194T>C c.9141T>C (p.Val3047=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32380126T>G | CA483262133 | BRCA2 | c.9237T>G (p.Val3079=) c.*604T>G (n.*604T>G) c.8868T>G (p.Val2956=) c.*799T>G (n.*799T>G) c.9186T>G (p.Val3062=) c.1653T>G (p.Val551=) n.1364T>G c.9245T>G (n.9245T>G) c.2115T>G c.120T>G (p.Val40=) c.194T>G c.9141T>G (p.Val3047=) | ClinVar |
13 | g.32380126T= | CA2082841083 | BRCA2 | c.9237T= (p.Val3079=) c.*604T= (n.*604T=) c.8868T= (p.Val2956=) c.*799T= (n.*799T=) c.9186T= (p.Val3062=) c.1653T= (p.Val551=) n.1364T= c.9245T= (n.9245T=) c.2115T= c.120T= (p.Val40=) c.194T= c.9141T= (p.Val3047=) | |
13 | g.32380126_32380128delinsTTC | CA2082841087 | BRCA2 | c.9237_9239delinsTTC (p.Val3079=) c.*604_*606delinsTTC (n.*604_*606delinsTTC) c.8868_8870delinsTTC (p.Val2956=) c.*799_*801delinsTTC (n.*799_*801delinsTTC) c.9186_9188delinsTTC (p.Val3062=) c.1653_1655delinsTTC (p.Val551=) n.1364_1366delinsTTC c.9245_9247delinsTTC (n.9245_9247delinsTTC) c.2115_2117delinsTTC c.120_122delinsTTC (p.Val40=) c.194_196delinsTTC c.9141_9143delinsTTC (p.Val3047=) | |
13 | g.32380127T>A | CA387758593 | BRCA2 | c.9238T>A (p.Ser3080Thr) c.*605T>A (n.*605T>A) c.8869T>A (p.Ser2957Thr) c.*800T>A (n.*800T>A) c.9187T>A (p.Ser3063Thr) c.1654T>A (p.Ser552Thr) n.1365T>A c.9246T>A (n.9246T>A) c.2116T>A c.121T>A (p.Ser41Thr) c.195T>A c.9142T>A (p.Ser3048Thr) | dbSNP |
13 | g.32380127T>C | CA387758596 | BRCA2 | c.9238T>C (p.Ser3080Pro) c.*605T>C (n.*605T>C) c.8869T>C (p.Ser2957Pro) c.*800T>C (n.*800T>C) c.9187T>C (p.Ser3063Pro) c.1654T>C (p.Ser552Pro) n.1365T>C c.9246T>C (n.9246T>C) c.2116T>C c.121T>C (p.Ser41Pro) c.195T>C c.9142T>C (p.Ser3048Pro) | ClinVar dbSNP |
13 | g.32380127T>G | CA387758600 | BRCA2 | c.9238T>G (p.Ser3080Ala) c.*605T>G (n.*605T>G) c.8869T>G (p.Ser2957Ala) c.*800T>G (n.*800T>G) c.9187T>G (p.Ser3063Ala) c.1654T>G (p.Ser552Ala) n.1365T>G c.9246T>G (n.9246T>G) c.2116T>G c.121T>G (p.Ser41Ala) c.195T>G c.9142T>G (p.Ser3048Ala) | |
13 | g.32380128_32380129del | CA919243156 | BRCA2 | c.9239_9240del (p.Ser3080CysfsTer30) c.*606_*607del (n.*606_*607del) c.8870_8871del (p.Ser2957CysfsTer30) c.*801_*802del (n.*801_*802del) c.9239_9240del (p.Ser3080CysfsTer?) c.9188_9189del (p.Ser3063CysfsTer30) c.1655_1656del (p.Ser552CysfsTer30) n.1366_1367del c.9247_9248del (n.9247_9248del) c.2117_2118del c.122_123del (p.Ser41CysfsTer?) c.196_197del c.9143_9144del (p.Ser3048CysfsTer30) | dbSNP |
13 | g.32380128C>A | CA387758604 | BRCA2 | c.9239C>A (p.Ser3080Tyr) c.*606C>A (n.*606C>A) c.8870C>A (p.Ser2957Tyr) c.*801C>A (n.*801C>A) c.9188C>A (p.Ser3063Tyr) c.1655C>A (p.Ser552Tyr) n.1366C>A c.9247C>A (n.9247C>A) c.2117C>A c.122C>A (p.Ser41Tyr) c.196C>A c.9143C>A (p.Ser3048Tyr) | |
13 | g.32380128C= | CA2082841097 | BRCA2 | c.9239C= (p.Ser3080=) c.*606C= (n.*606C=) c.8870C= (p.Ser2957=) c.*801C= (n.*801C=) c.9188C= (p.Ser3063=) c.1655C= (p.Ser552=) n.1366C= c.9247C= (n.9247C=) c.2117C= c.122C= (p.Ser41=) c.196C= c.9143C= (p.Ser3048=) | |
13 | g.32380128C>G | CA6941358 | BRCA2 | c.9239C>G (p.Ser3080Cys) c.*606C>G (n.*606C>G) c.8870C>G (p.Ser2957Cys) c.*801C>G (n.*801C>G) c.9188C>G (p.Ser3063Cys) c.1655C>G (p.Ser552Cys) n.1366C>G c.9247C>G (n.9247C>G) c.2117C>G c.122C>G (p.Ser41Cys) c.196C>G c.9143C>G (p.Ser3048Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32380128C>T | CA387758611 | BRCA2 | c.9239C>T (p.Ser3080Phe) c.*606C>T (n.*606C>T) c.8870C>T (p.Ser2957Phe) c.*801C>T (n.*801C>T) c.9188C>T (p.Ser3063Phe) c.1655C>T (p.Ser552Phe) n.1366C>T c.9247C>T (n.9247C>T) c.2117C>T c.122C>T (p.Ser41Phe) c.196C>T c.9143C>T (p.Ser3048Phe) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32380129T>A | CA483262135 | BRCA2 | c.9240T>A (p.Ser3080=) c.*607T>A (n.*607T>A) c.8871T>A (p.Ser2957=) c.*802T>A (n.*802T>A) c.9189T>A (p.Ser3063=) c.1656T>A (p.Ser552=) n.1367T>A c.9248T>A (n.9248T>A) c.2118T>A c.123T>A (p.Ser41=) c.197T>A c.9144T>A (p.Ser3048=) | |
13 | g.32380129T>C | CA483262136 | BRCA2 | c.9240T>C (p.Ser3080=) c.*607T>C (n.*607T>C) c.8871T>C (p.Ser2957=) c.*802T>C (n.*802T>C) c.9189T>C (p.Ser3063=) c.1656T>C (p.Ser552=) n.1367T>C c.9248T>C (n.9248T>C) c.2118T>C c.123T>C (p.Ser41=) c.197T>C c.9144T>C (p.Ser3048=) | |
13 | g.32380129T>G | CA483262137 | BRCA2 | c.9240T>G (p.Ser3080=) c.*607T>G (n.*607T>G) c.8871T>G (p.Ser2957=) c.*802T>G (n.*802T>G) c.9189T>G (p.Ser3063=) c.1656T>G (p.Ser552=) n.1367T>G c.9248T>G (n.9248T>G) c.2118T>G c.123T>G (p.Ser41=) c.197T>G c.9144T>G (p.Ser3048=) | |
13 | g.32380130G>A | CA387758616 | BRCA2 | c.9241G>A (p.Val3081Ile) c.*608G>A (n.*608G>A) c.8872G>A (p.Val2958Ile) c.*803G>A (n.*803G>A) c.9190G>A (p.Val3064Ile) c.1657G>A (p.Val553Ile) n.1368G>A c.9249G>A (n.9249G>A) c.2119G>A c.124G>A (p.Val42Ile) c.198G>A c.9145G>A (p.Val3049Ile) | ClinVar dbSNP gnomAD v4 |
13 | g.32380130G>C | CA387758618 | BRCA2 | c.9241G>C (p.Val3081Leu) c.*608G>C (n.*608G>C) c.8872G>C (p.Val2958Leu) c.*803G>C (n.*803G>C) c.9190G>C (p.Val3064Leu) c.1657G>C (p.Val553Leu) n.1368G>C c.9249G>C (n.9249G>C) c.2119G>C c.124G>C (p.Val42Leu) c.198G>C c.9145G>C (p.Val3049Leu) | dbSNP |
13 | g.32380130G= | CA2082841113 | BRCA2 | c.9241G= (p.Val3081=) c.*608G= (n.*608G=) c.8872G= (p.Val2958=) c.*803G= (n.*803G=) c.9190G= (p.Val3064=) c.1657G= (p.Val553=) n.1368G= c.9249G= (n.9249G=) c.2119G= c.124G= (p.Val42=) c.198G= c.9145G= (p.Val3049=) | |
13 | g.32380130G>T | CA10586088 | BRCA2 | c.9241G>T (p.Val3081Phe) c.*608G>T (n.*608G>T) c.8872G>T (p.Val2958Phe) c.*803G>T (n.*803G>T) c.9190G>T (p.Val3064Phe) c.1657G>T (p.Val553Phe) n.1368G>T c.9249G>T (n.9249G>T) c.2119G>T c.124G>T (p.Val42Phe) c.198G>T c.9145G>T (p.Val3049Phe) | ClinVar dbSNP |
13 | g.32380131T>A | CA387758621 | BRCA2 | c.9242T>A (p.Val3081Asp) c.*609T>A (n.*609T>A) c.8873T>A (p.Val2958Asp) c.*804T>A (n.*804T>A) c.9191T>A (p.Val3064Asp) c.1658T>A (p.Val553Asp) n.1369T>A c.9250T>A (n.9250T>A) c.2120T>A c.125T>A (p.Val42Asp) c.199T>A c.9146T>A (p.Val3049Asp) | |
13 | g.32380131T>C | CA026046 | BRCA2 | c.9242T>C (p.Val3081Ala) c.*609T>C (n.*609T>C) c.8873T>C (p.Val2958Ala) c.*804T>C (n.*804T>C) c.9191T>C (p.Val3064Ala) c.1658T>C (p.Val553Ala) n.1369T>C c.9250T>C (n.9250T>C) c.2120T>C c.125T>C (p.Val42Ala) c.199T>C c.9146T>C (p.Val3049Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32380131T>G | CA387758623 | BRCA2 | c.9242T>G (p.Val3081Gly) c.*609T>G (n.*609T>G) c.8873T>G (p.Val2958Gly) c.*804T>G (n.*804T>G) c.9191T>G (p.Val3064Gly) c.1658T>G (p.Val553Gly) n.1369T>G c.9250T>G (n.9250T>G) c.2120T>G c.125T>G (p.Val42Gly) c.199T>G c.9146T>G (p.Val3049Gly) | ClinVar dbSNP |
13 | g.32380131T= | CA2082841128 | BRCA2 | c.9242T= (p.Val3081=) c.*609T= (n.*609T=) c.8873T= (p.Val2958=) c.*804T= (n.*804T=) c.9191T= (p.Val3064=) c.1658T= (p.Val553=) n.1369T= c.9250T= (n.9250T=) c.2120T= c.125T= (p.Val42=) c.199T= c.9146T= (p.Val3049=) | |
13 | g.32380132T>A | CA483262139 | BRCA2 | c.9243T>A (p.Val3081=) c.*610T>A (n.*610T>A) c.8874T>A (p.Val2958=) c.*805T>A (n.*805T>A) c.9192T>A (p.Val3064=) c.1659T>A (p.Val553=) n.1370T>A c.9251T>A (n.9251T>A) c.2121T>A c.126T>A (p.Val42=) c.200T>A c.9147T>A (p.Val3049=) | |
13 | g.32380132T>C | CA483262141 | BRCA2 | c.9243T>C (p.Val3081=) c.*610T>C (n.*610T>C) c.8874T>C (p.Val2958=) c.*805T>C (n.*805T>C) c.9192T>C (p.Val3064=) c.1659T>C (p.Val553=) n.1370T>C c.9251T>C (n.9251T>C) c.2121T>C c.126T>C (p.Val42=) c.200T>C c.9147T>C (p.Val3049=) | dbSNP |
13 | g.32380132T>G | CA483262140 | BRCA2 | c.9243T>G (p.Val3081=) c.*610T>G (n.*610T>G) c.8874T>G (p.Val2958=) c.*805T>G (n.*805T>G) c.9192T>G (p.Val3064=) c.1659T>G (p.Val553=) n.1370T>G c.9251T>G (n.9251T>G) c.2121T>G c.126T>G (p.Val42=) c.200T>G c.9147T>G (p.Val3049=) | |
13 | g.32380133G>A | CA387758627 | BRCA2 | c.9244G>A (p.Val3082Met) c.*611G>A (n.*611G>A) c.8875G>A (p.Val2959Met) c.*806G>A (n.*806G>A) c.9193G>A (p.Val3065Met) c.1660G>A (p.Val554Met) n.1371G>A c.9252G>A (n.9252G>A) c.2122G>A c.127G>A (p.Val43Met) c.201G>A c.9148G>A (p.Val3050Met) | ClinVar dbSNP |
13 | g.32380133G>C | CA387758632 | BRCA2 | c.9244G>C (p.Val3082Leu) c.*611G>C (n.*611G>C) c.8875G>C (p.Val2959Leu) c.*806G>C (n.*806G>C) c.9193G>C (p.Val3065Leu) c.1660G>C (p.Val554Leu) n.1371G>C c.9252G>C (n.9252G>C) c.2122G>C c.127G>C (p.Val43Leu) c.201G>C c.9148G>C (p.Val3050Leu) | ClinVar |
13 | g.32380133G= | CA2082841137 | BRCA2 | c.9244G= (p.Val3082=) c.*611G= (n.*611G=) c.8875G= (p.Val2959=) c.*806G= (n.*806G=) c.9193G= (p.Val3065=) c.1660G= (p.Val554=) n.1371G= c.9252G= (n.9252G=) c.2122G= c.127G= (p.Val43=) c.201G= c.9148G= (p.Val3050=) | |
13 | g.32380133G>T | CA387758633 | BRCA2 | c.9244G>T (p.Val3082Leu) c.*611G>T (n.*611G>T) c.8875G>T (p.Val2959Leu) c.*806G>T (n.*806G>T) c.9193G>T (p.Val3065Leu) c.1660G>T (p.Val554Leu) n.1371G>T c.9252G>T (n.9252G>T) c.2122G>T c.127G>T (p.Val43Leu) c.201G>T c.9148G>T (p.Val3050Leu) | dbSNP |
13 | g.32380134T>A | CA387758644 | BRCA2 | c.9245T>A (p.Val3082Glu) c.*612T>A (n.*612T>A) c.8876T>A (p.Val2959Glu) c.*807T>A (n.*807T>A) c.9194T>A (p.Val3065Glu) c.1661T>A (p.Val554Glu) n.1372T>A c.9253T>A (n.9253T>A) c.2123T>A c.128T>A (p.Val43Glu) c.202T>A c.9149T>A (p.Val3050Glu) | ClinVar dbSNP |
13 | g.32380134T>C | CA387758652 | BRCA2 | c.9245T>C (p.Val3082Ala) c.*612T>C (n.*612T>C) c.8876T>C (p.Val2959Ala) c.*807T>C (n.*807T>C) c.9194T>C (p.Val3065Ala) c.1661T>C (p.Val554Ala) n.1372T>C c.9253T>C (n.9253T>C) c.2123T>C c.128T>C (p.Val43Ala) c.202T>C c.9149T>C (p.Val3050Ala) | |
13 | g.32380134T>G | CA026047 | BRCA2 | c.9245T>G (p.Val3082Gly) c.*612T>G (n.*612T>G) c.8876T>G (p.Val2959Gly) c.*807T>G (n.*807T>G) c.9194T>G (p.Val3065Gly) c.1661T>G (p.Val554Gly) n.1372T>G c.9253T>G (n.9253T>G) c.2123T>G c.128T>G (p.Val43Gly) c.202T>G c.9149T>G (p.Val3050Gly) | ClinVar dbSNP |
13 | g.32380134T= | CA2082841149 | BRCA2 | c.9245T= (p.Val3082=) c.*612T= (n.*612T=) c.8876T= (p.Val2959=) c.*807T= (n.*807T=) c.9194T= (p.Val3065=) c.1661T= (p.Val554=) n.1372T= c.9253T= (n.9253T=) c.2123T= c.128T= (p.Val43=) c.202T= c.9149T= (p.Val3050=) | |
13 | g.32380134_32380140del | CA2573053829 | BRCA2 | c.9245_9251del (p.Val3082GlufsTer20) c.*612_*618del (n.*612_*618del) c.8876_8882del (p.Val2959GlufsTer20) c.*807_*813del (n.*807_*813del) c.9245_9251del (p.Val3082GlufsTer3) c.9194_9200del (p.Val3065GlufsTer20) c.1661_1667del (p.Val554GlufsTer20) n.1372_1378del c.9253_9259del (n.9253_9259del) c.2123_2129del c.128_134del (p.Val43GlufsTer3) c.202_208del c.9149_9155del (p.Val3050GlufsTer20) | ClinVar dbSNP |
13 | g.32380135G>A | CA483262142 | BRCA2 | c.9246G>A (p.Val3082=) c.*613G>A (n.*613G>A) c.8877G>A (p.Val2959=) c.*808G>A (n.*808G>A) c.9195G>A (p.Val3065=) c.1662G>A (p.Val554=) n.1373G>A c.9254G>A (n.9254G>A) c.2124G>A c.129G>A (p.Val43=) c.203G>A c.9150G>A (p.Val3050=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32380135G>C | CA483262143 | BRCA2 | c.9246G>C (p.Val3082=) c.*613G>C (n.*613G>C) c.8877G>C (p.Val2959=) c.*808G>C (n.*808G>C) c.9195G>C (p.Val3065=) c.1662G>C (p.Val554=) n.1373G>C c.9254G>C (n.9254G>C) c.2124G>C c.129G>C (p.Val43=) c.203G>C c.9150G>C (p.Val3050=) | ClinVar |
13 | g.32380135G= | CA2082841171 | BRCA2 | c.9246G= (p.Val3082=) c.*613G= (n.*613G=) c.8877G= (p.Val2959=) c.*808G= (n.*808G=) c.9195G= (p.Val3065=) c.1662G= (p.Val554=) n.1373G= c.9254G= (n.9254G=) c.2124G= c.129G= (p.Val43=) c.203G= c.9150G= (p.Val3050=) | |
13 | g.32380135G>T | CA483262144 | BRCA2 | c.9246G>T (p.Val3082=) c.*613G>T (n.*613G>T) c.8877G>T (p.Val2959=) c.*808G>T (n.*808G>T) c.9195G>T (p.Val3065=) c.1662G>T (p.Val554=) n.1373G>T c.9254G>T (n.9254G>T) c.2124G>T c.129G>T (p.Val43=) c.203G>T c.9150G>T (p.Val3050=) | |
13 | g.32380135dup | CA10586595 | BRCA2 | c.9246dup (p.Lys3083GlufsTer28) c.*613dup (n.*613dup) c.8877dup (p.Lys2960GlufsTer28) c.*808dup (n.*808dup) c.9246dup (p.Lys3083GlufsTer?) c.9195dup (p.Lys3066GlufsTer28) c.1662dup (p.Lys555GlufsTer28) n.1373dup c.9254dup (n.9254dup) c.2124dup c.129dup (p.Lys44GlufsTer?) c.203dup c.9150dup (p.Lys3051GlufsTer28) | ClinVar dbSNP |
13 | g.32380135_32380136delinsGA | CA2082841168 | BRCA2 | c.9246_9247delinsGA (p.Val3082=) c.*613_*614delinsGA (n.*613_*614delinsGA) c.8877_8878delinsGA (p.Val2959=) c.*808_*809delinsGA (n.*808_*809delinsGA) c.9195_9196delinsGA (p.Val3065=) c.1662_1663delinsGA (p.Val554=) n.1373_1374delinsGA c.9254_9255delinsGA (n.9254_9255delinsGA) c.2124_2125delinsGA c.129_130delinsGA (p.Val43=) c.203_204delinsGA c.9150_9151delinsGA (p.Val3050=) | |
13 | g.32380136A= | CA2082841175 | BRCA2 | c.9247A= (p.Lys3083=) c.*614A= (n.*614A=) c.8878A= (p.Lys2960=) c.*809A= (n.*809A=) c.9196A= (p.Lys3066=) c.1663A= (p.Lys555=) n.1374A= c.9255A= (n.9255A=) c.2125A= c.130A= (p.Lys44=) c.204A= c.9151A= (p.Lys3051=) | |
13 | g.32380136A>C | CA387758671 | BRCA2 | c.9247A>C (p.Lys3083Gln) c.*614A>C (n.*614A>C) c.8878A>C (p.Lys2960Gln) c.*809A>C (n.*809A>C) c.9196A>C (p.Lys3066Gln) c.1663A>C (p.Lys555Gln) n.1374A>C c.9255A>C (n.9255A>C) c.2125A>C c.130A>C (p.Lys44Gln) c.204A>C c.9151A>C (p.Lys3051Gln) | |
13 | g.32380136A>G | CA026048 | BRCA2 | c.9247A>G (p.Lys3083Glu) c.*614A>G (n.*614A>G) c.8878A>G (p.Lys2960Glu) c.*809A>G (n.*809A>G) c.9196A>G (p.Lys3066Glu) c.1663A>G (p.Lys555Glu) n.1374A>G c.9255A>G (n.9255A>G) c.2125A>G c.130A>G (p.Lys44Glu) c.204A>G c.9151A>G (p.Lys3051Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32380136A>T | CA026049 | BRCA2 | c.9247A>T (p.Lys3083Ter) c.*614A>T (n.*614A>T) c.8878A>T (p.Lys2960Ter) c.*809A>T (n.*809A>T) c.9196A>T (p.Lys3066Ter) c.1663A>T (p.Lys555Ter) n.1374A>T c.9255A>T (n.9255A>T) c.2125A>T c.130A>T (p.Lys44Ter) c.204A>T c.9151A>T (p.Lys3051Ter) | ClinVar dbSNP |
13 | g.32380142dup | CA026052 | BRCA2 | c.9253dup (p.Thr3085AsnfsTer26) c.*620dup (n.*620dup) c.8884dup (p.Thr2962AsnfsTer26) c.*815dup (n.*815dup) c.9253dup (p.Thr3085AsnfsTer?) c.9202dup (p.Thr3068AsnfsTer26) c.1669dup (p.Thr557AsnfsTer26) n.1380dup c.9261dup (n.9261dup) c.2131dup c.136dup (p.Thr46AsnfsTer?) c.210dup c.9157dup (p.Thr3053AsnfsTer26) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
13 | g.32380142del | CA026054 | BRCA2 | c.9253del (p.Thr3085GlnfsTer19) c.*620del (n.*620del) c.8884del (p.Thr2962GlnfsTer19) c.*815del (n.*815del) c.9253del (p.Thr3085GlnfsTer2) c.9202del (p.Thr3068GlnfsTer19) c.1669del (p.Thr557GlnfsTer19) n.1380del c.9261del (n.9261del) c.2131del c.136del (p.Thr46GlnfsTer2) c.210del c.9157del (p.Thr3053GlnfsTer19) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32380141_32380142del | CA2695199722 | BRCA2 | c.9252_9253del (p.Lys3084AsnfsTer26) c.*619_*620del (n.*619_*620del) c.8883_8884del (p.Lys2961AsnfsTer26) c.*814_*815del (n.*814_*815del) c.9252_9253del (p.Lys3084AsnfsTer?) c.9201_9202del (p.Lys3067AsnfsTer26) c.1668_1669del (p.Lys556AsnfsTer26) n.1379_1380del c.9260_9261del (n.9260_9261del) c.2130_2131del c.135_136del (p.Lys45AsnfsTer?) c.209_210del c.9156_9157del (p.Lys3052AsnfsTer26) | ClinVar |
13 | g.32380137A= | CA2082841177 | BRCA2 | c.9248A= (p.Lys3083=) c.*615A= (n.*615A=) c.8879A= (p.Lys2960=) c.*810A= (n.*810A=) c.9197A= (p.Lys3066=) c.1664A= (p.Lys555=) n.1375A= c.9256A= (n.9256A=) c.2126A= c.131A= (p.Lys44=) c.205A= c.9152A= (p.Lys3051=) | |
13 | g.32380137A>C | CA387758673 | BRCA2 | c.9248A>C (p.Lys3083Thr) c.*615A>C (n.*615A>C) c.8879A>C (p.Lys2960Thr) c.*810A>C (n.*810A>C) c.9197A>C (p.Lys3066Thr) c.1664A>C (p.Lys555Thr) n.1375A>C c.9256A>C (n.9256A>C) c.2126A>C c.131A>C (p.Lys44Thr) c.205A>C c.9152A>C (p.Lys3051Thr) | |
13 | g.32380137A>G | CA10579821 | BRCA2 | c.9248A>G (p.Lys3083Arg) c.*615A>G (n.*615A>G) c.8879A>G (p.Lys2960Arg) c.*810A>G (n.*810A>G) c.9197A>G (p.Lys3066Arg) c.1664A>G (p.Lys555Arg) n.1375A>G c.9256A>G (n.9256A>G) c.2126A>G c.131A>G (p.Lys44Arg) c.205A>G c.9152A>G (p.Lys3051Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.32380137A>T | CA387758678 | BRCA2 | c.9248A>T (p.Lys3083Ile) c.*615A>T (n.*615A>T) c.8879A>T (p.Lys2960Ile) c.*810A>T (n.*810A>T) c.9197A>T (p.Lys3066Ile) c.1664A>T (p.Lys555Ile) n.1375A>T c.9256A>T (n.9256A>T) c.2126A>T c.131A>T (p.Lys44Ile) c.205A>T c.9152A>T (p.Lys3051Ile) | dbSNP |
13 | g.32380138_32380153del | CA645571585 | BRCA2 | c.9249_9256+8del c.*616_*623+8del c.8880_8887+8del c.*811_*818+8del c.9198_9205+8del c.1665_1672+8del n.1376_1383+8del c.9257_9264+8del c.2127_2134+8del c.132_139+8del c.206_213+8del c.9153_9160+8del | COSMIC |
13 | g.32380138A= | CA2082841185 | BRCA2 | c.9249A= (p.Lys3083=) c.*616A= (n.*616A=) c.8880A= (p.Lys2960=) c.*811A= (n.*811A=) c.9198A= (p.Lys3066=) c.1665A= (p.Lys555=) n.1376A= c.9257A= (n.9257A=) c.2127A= c.132A= (p.Lys44=) c.206A= c.9153A= (p.Lys3051=) | |
13 | g.32380138A>C | CA387758684 | BRCA2 | c.9249A>C (p.Lys3083Asn) c.*616A>C (n.*616A>C) c.8880A>C (p.Lys2960Asn) c.*811A>C (n.*811A>C) c.9198A>C (p.Lys3066Asn) c.1665A>C (p.Lys555Asn) n.1376A>C c.9257A>C (n.9257A>C) c.2127A>C c.132A>C (p.Lys44Asn) c.206A>C c.9153A>C (p.Lys3051Asn) | |
13 | g.32380138A>G | CA16614392 | BRCA2 | c.9249A>G (p.Lys3083=) c.*616A>G (n.*616A>G) c.8880A>G (p.Lys2960=) c.*811A>G (n.*811A>G) c.9198A>G (p.Lys3066=) c.1665A>G (p.Lys555=) n.1376A>G c.9257A>G (n.9257A>G) c.2127A>G c.132A>G (p.Lys44=) c.206A>G c.9153A>G (p.Lys3051=) | ClinVar dbSNP |
13 | g.32380138A>T | CA026050 | BRCA2 | c.9249A>T (p.Lys3083Asn) c.*616A>T (n.*616A>T) c.8880A>T (p.Lys2960Asn) c.*811A>T (n.*811A>T) c.9198A>T (p.Lys3066Asn) c.1665A>T (p.Lys555Asn) n.1376A>T c.9257A>T (n.9257A>T) c.2127A>T c.132A>T (p.Lys44Asn) c.206A>T c.9153A>T (p.Lys3051Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32380139A>C | CA387758689 | BRCA2 | c.9250A>C (p.Lys3084Gln) c.*617A>C (n.*617A>C) c.8881A>C (p.Lys2961Gln) c.*812A>C (n.*812A>C) c.9199A>C (p.Lys3067Gln) c.1666A>C (p.Lys556Gln) n.1377A>C c.9258A>C (n.9258A>C) c.2128A>C c.133A>C (p.Lys45Gln) c.207A>C c.9154A>C (p.Lys3052Gln) | |
13 | g.32380139A>G | CA387758691 | BRCA2 | c.9250A>G (p.Lys3084Glu) c.*617A>G (n.*617A>G) c.8881A>G (p.Lys2961Glu) c.*812A>G (n.*812A>G) c.9199A>G (p.Lys3067Glu) c.1666A>G (p.Lys556Glu) n.1377A>G c.9258A>G (n.9258A>G) c.2128A>G c.133A>G (p.Lys45Glu) c.207A>G c.9154A>G (p.Lys3052Glu) | dbSNP |
13 | g.32380139A>T | CA387758688 | BRCA2 | c.9250A>T (p.Lys3084Ter) c.*617A>T (n.*617A>T) c.8881A>T (p.Lys2961Ter) c.*812A>T (n.*812A>T) c.9199A>T (p.Lys3067Ter) c.1666A>T (p.Lys556Ter) n.1377A>T c.9258A>T (n.9258A>T) c.2128A>T c.133A>T (p.Lys45Ter) c.207A>T c.9154A>T (p.Lys3052Ter) | ClinVar dbSNP |
13 | g.32380140A>C | CA387758694 | BRCA2 | c.9251A>C (p.Lys3084Thr) c.*618A>C (n.*618A>C) c.8882A>C (p.Lys2961Thr) c.*813A>C (n.*813A>C) c.9200A>C (p.Lys3067Thr) c.1667A>C (p.Lys556Thr) n.1378A>C c.9259A>C (n.9259A>C) c.2129A>C c.134A>C (p.Lys45Thr) c.208A>C c.9155A>C (p.Lys3052Thr) | |
13 | g.32380140A>G | CA387758701 | BRCA2 | c.9251A>G (p.Lys3084Arg) c.*618A>G (n.*618A>G) c.8882A>G (p.Lys2961Arg) c.*813A>G (n.*813A>G) c.9200A>G (p.Lys3067Arg) c.1667A>G (p.Lys556Arg) n.1378A>G c.9259A>G (n.9259A>G) c.2129A>G c.134A>G (p.Lys45Arg) c.208A>G c.9155A>G (p.Lys3052Arg) | dbSNP |
13 | g.32380140A>T | CA387758704 | BRCA2 | c.9251A>T (p.Lys3084Ile) c.*618A>T (n.*618A>T) c.8882A>T (p.Lys2961Ile) c.*813A>T (n.*813A>T) c.9200A>T (p.Lys3067Ile) c.1667A>T (p.Lys556Ile) n.1378A>T c.9259A>T (n.9259A>T) c.2129A>T c.134A>T (p.Lys45Ile) c.208A>T c.9155A>T (p.Lys3052Ile) | |
13 | g.32380140_32380144delinsAAACA | CA2082841194 | BRCA2 | c.9251_9255delinsAAACA (p.Lys3084=) c.*618_*622delinsAAACA (n.*618_*622delinsAAACA) c.8882_8886delinsAAACA (p.Lys2961=) c.*813_*817delinsAAACA (n.*813_*817delinsAAACA) c.9200_9204delinsAAACA (p.Lys3067=) c.1667_1671delinsAAACA (p.Lys556=) n.1378_1382delinsAAACA c.9259_9263delinsAAACA (n.9259_9263delinsAAACA) c.2129_2133delinsAAACA c.134_138delinsAAACA (p.Lys45=) c.208_212delinsAAACA c.9155_9159delinsAAACA (p.Lys3052=) | |
13 | g.32380141_32380144del | CA2499222371 | BRCA2 | c.9252_9255del (p.Thr3085AspfsTer18) c.*619_*622del (n.*619_*622del) c.8883_8886del (p.Thr2962AspfsTer18) c.*814_*817del (n.*814_*817del) c.9252_9255del (p.Thr3085Ter) c.9201_9204del (p.Thr3068AspfsTer18) c.1668_1671del (p.Thr557AspfsTer18) n.1379_1382del c.9260_9263del (n.9260_9263del) c.2130_2133del c.135_138del (p.Thr46Ter) c.209_212del c.9156_9159del (p.Thr3053AspfsTer18) | ClinVar dbSNP |
13 | g.32380140_32380154delinsAAACAGGTAATGCAC | CA2082841195 | BRCA2 | c.9251_9256+9delinsAAACAGGTAATGCAC c.*618_*623+9delinsAAACAGGTAATGCAC c.8882_8887+9delinsAAACAGGTAATGCAC c.*813_*818+9delinsAAACAGGTAATGCAC c.9200_9205+9delinsAAACAGGTAATGCAC c.1667_1672+9delinsAAACAGGTAATGCAC n.1378_1383+9delinsAAACAGGTAATGCAC c.9259_9264+9delinsAAACAGGTAATGCAC c.2129_2134+9delinsAAACAGGTAATGCAC c.134_139+9delinsAAACAGGTAATGCAC c.208_213+9delinsAAACAGGTAATGCAC c.9155_9160+9delinsAAACAGGTAATGCAC | |
13 | g.32380141A= | CA2082841201 | BRCA2 | c.9252A= (p.Lys3084=) c.*619A= (n.*619A=) c.8883A= (p.Lys2961=) c.*814A= (n.*814A=) c.9201A= (p.Lys3067=) c.1668A= (p.Lys556=) n.1379A= c.9260A= (n.9260A=) c.2130A= c.135A= (p.Lys45=) c.209A= c.9156A= (p.Lys3052=) | |
13 | g.32380141A>C | CA387758708 | BRCA2 | c.9252A>C (p.Lys3084Asn) c.*619A>C (n.*619A>C) c.8883A>C (p.Lys2961Asn) c.*814A>C (n.*814A>C) c.9201A>C (p.Lys3067Asn) c.1668A>C (p.Lys556Asn) n.1379A>C c.9260A>C (n.9260A>C) c.2130A>C c.135A>C (p.Lys45Asn) c.209A>C c.9156A>C (p.Lys3052Asn) | |
13 | g.32380141A>G | CA483262149 | BRCA2 | c.9252A>G (p.Lys3084=) c.*619A>G (n.*619A>G) c.8883A>G (p.Lys2961=) c.*814A>G (n.*814A>G) c.9201A>G (p.Lys3067=) c.1668A>G (p.Lys556=) n.1379A>G c.9260A>G (n.9260A>G) c.2130A>G c.135A>G (p.Lys45=) c.209A>G c.9156A>G (p.Lys3052=) | ClinVar dbSNP gnomAD v4 |
13 | g.32380141A>T | CA387758709 | BRCA2 | c.9252A>T (p.Lys3084Asn) c.*619A>T (n.*619A>T) c.8883A>T (p.Lys2961Asn) c.*814A>T (n.*814A>T) c.9201A>T (p.Lys3067Asn) c.1668A>T (p.Lys556Asn) n.1379A>T c.9260A>T (n.9260A>T) c.2130A>T c.135A>T (p.Lys45Asn) c.209A>T c.9156A>T (p.Lys3052Asn) | dbSNP |
13 | g.32380141_32380142delinsG | CA2499222372 | BRCA2 | c.9252_9253delinsG (p.Thr3085GlnfsTer19) c.*619_*620delinsG (n.*619_*620delinsG) c.8883_8884delinsG (p.Thr2962GlnfsTer19) c.*814_*815delinsG (n.*814_*815delinsG) c.9252_9253delinsG (p.Thr3085GlnfsTer2) c.9201_9202delinsG (p.Thr3068GlnfsTer19) c.1668_1669delinsG (p.Thr557GlnfsTer19) n.1379_1380delinsG c.9260_9261delinsG (n.9260_9261delinsG) c.2130_2131delinsG c.135_136delinsG (p.Thr46GlnfsTer2) c.209_210delinsG c.9156_9157delinsG (p.Thr3053GlnfsTer19) | ClinVar dbSNP |
13 | g.32380141_32380144delinsTT | CA026051 | BRCA2 | c.9252_9255delinsTT (p.Lys3084AsnfsTer26) c.*619_*622delinsTT (n.*619_*622delinsTT) c.8883_8886delinsTT (p.Lys2961AsnfsTer26) c.*814_*817delinsTT (n.*814_*817delinsTT) c.9252_9255delinsTT (p.Lys3084AsnfsTer?) c.9201_9204delinsTT (p.Lys3067AsnfsTer26) c.1668_1671delinsTT (p.Lys556AsnfsTer26) n.1379_1382delinsTT c.9260_9263delinsTT (n.9260_9263delinsTT) c.2130_2133delinsTT c.135_138delinsTT (p.Lys45AsnfsTer?) c.209_212delinsTT c.9156_9159delinsTT (p.Lys3052AsnfsTer26) | ClinVar dbSNP |
13 | g.32380143_32380156del | CA658656447 | BRCA2 | c.9254_9256+11del c.*621_*623+11del c.8885_8887+11del c.*816_*818+11del c.9203_9205+11del c.1670_1672+11del n.1381_1383+11del c.9262_9264+11del c.2132_2134+11del c.137_139+11del c.211_213+11del c.9158_9160+11del | ClinVar dbSNP |
13 | g.32380142A= | CA2082841214 | BRCA2 | c.9253A= (p.Thr3085=) c.*620A= (n.*620A=) c.8884A= (p.Thr2962=) c.*815A= (n.*815A=) c.9202A= (p.Thr3068=) c.1669A= (p.Thr557=) n.1380A= c.9261A= (n.9261A=) c.2131A= c.136A= (p.Thr46=) c.210A= c.9157A= (p.Thr3053=) | |
13 | g.32380142A>C | CA026053 | BRCA2 | c.9253A>C (p.Thr3085Pro) c.*620A>C (n.*620A>C) c.8884A>C (p.Thr2962Pro) c.*815A>C (n.*815A>C) c.9202A>C (p.Thr3068Pro) c.1669A>C (p.Thr557Pro) n.1380A>C c.9261A>C (n.9261A>C) c.2131A>C c.136A>C (p.Thr46Pro) c.210A>C c.9157A>C (p.Thr3053Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32380142A>G | CA387758719 | BRCA2 | c.9253A>G (p.Thr3085Ala) c.*620A>G (n.*620A>G) c.8884A>G (p.Thr2962Ala) c.*815A>G (n.*815A>G) c.9202A>G (p.Thr3068Ala) c.1669A>G (p.Thr557Ala) n.1380A>G c.9261A>G (n.9261A>G) c.2131A>G c.136A>G (p.Thr46Ala) c.210A>G c.9157A>G (p.Thr3053Ala) | ClinVar COSMIC COSMIC |
13 | g.32380142A>T | CA387758723 | BRCA2 | c.9253A>T (p.Thr3085Ser) c.*620A>T (n.*620A>T) c.8884A>T (p.Thr2962Ser) c.*815A>T (n.*815A>T) c.9202A>T (p.Thr3068Ser) c.1669A>T (p.Thr557Ser) n.1380A>T c.9261A>T (n.9261A>T) c.2131A>T c.136A>T (p.Thr46Ser) c.210A>T c.9157A>T (p.Thr3053Ser) | dbSNP |
13 | g.32380142_32380143delinsAC | CA2082841217 | BRCA2 | c.9253_9254delinsAC (p.Thr3085=) c.*620_*621delinsAC (n.*620_*621delinsAC) c.8884_8885delinsAC (p.Thr2962=) c.*815_*816delinsAC (n.*815_*816delinsAC) c.9202_9203delinsAC (p.Thr3068=) c.1669_1670delinsAC (p.Thr557=) n.1380_1381delinsAC c.9261_9262delinsAC (n.9261_9262delinsAC) c.2131_2132delinsAC c.136_137delinsAC (p.Thr46=) c.210_211delinsAC c.9157_9158delinsAC (p.Thr3053=) | |
13 | g.32380143del | CA658683861 | BRCA2 | c.9254del (p.Thr3085LysfsTer19) c.*621del (n.*621del) c.8885del (p.Thr2962LysfsTer19) c.*816del (n.*816del) c.9254del (p.Thr3085LysfsTer2) c.9203del (p.Thr3068LysfsTer19) c.1670del (p.Thr557LysfsTer19) n.1381del c.9262del (n.9262del) c.2132del c.137del (p.Thr46LysfsTer2) c.211del c.9158del (p.Thr3053LysfsTer19) | ClinVar dbSNP |
13 | g.32380143C>A | CA387758725 | BRCA2 | c.9254C>A (p.Thr3085Lys) c.*621C>A (n.*621C>A) c.8885C>A (p.Thr2962Lys) c.*816C>A (n.*816C>A) c.9203C>A (p.Thr3068Lys) c.1670C>A (p.Thr557Lys) n.1381C>A c.9262C>A (n.9262C>A) c.2132C>A c.137C>A (p.Thr46Lys) c.211C>A c.9158C>A (p.Thr3053Lys) | ClinVar dbSNP |
13 | g.32380143C>G | CA387758728 | BRCA2 | c.9254C>G (p.Thr3085Arg) c.*621C>G (n.*621C>G) c.8885C>G (p.Thr2962Arg) c.*816C>G (n.*816C>G) c.9203C>G (p.Thr3068Arg) c.1670C>G (p.Thr557Arg) n.1381C>G c.9262C>G (n.9262C>G) c.2132C>G c.137C>G (p.Thr46Arg) c.211C>G c.9158C>G (p.Thr3053Arg) | dbSNP |
13 | g.32380143C>T | CA387758730 | BRCA2 | c.9254C>T (p.Thr3085Ile) c.*621C>T (n.*621C>T) c.8885C>T (p.Thr2962Ile) c.*816C>T (n.*816C>T) c.9203C>T (p.Thr3068Ile) c.1670C>T (p.Thr557Ile) n.1381C>T c.9262C>T (n.9262C>T) c.2132C>T c.137C>T (p.Thr46Ile) c.211C>T c.9158C>T (p.Thr3053Ile) | ClinVar dbSNP |
13 | g.32380143dup | CA10589554 | BRCA2 | c.9254dup (p.Gly3086ArgfsTer25) c.*621dup (n.*621dup) c.8885dup (p.Gly2963ArgfsTer25) c.*816dup (n.*816dup) c.9254dup (p.Val3086SerfsTer?) c.9203dup (p.Gly3069ArgfsTer25) c.1670dup (p.Gly558ArgfsTer25) n.1381dup c.9262dup (n.9262dup) c.2132dup c.137dup (p.Val47SerfsTer?) c.211dup c.9158dup (p.Gly3054ArgfsTer25) | ClinVar dbSNP |
13 | g.32380143_32380144delinsTT | CA2573149381 | BRCA2 | c.9254_9255delinsTT (p.Thr3085Ile) c.*621_*622delinsTT (n.*621_*622delinsTT) c.8885_8886delinsTT (p.Thr2962Ile) c.*816_*817delinsTT (n.*816_*817delinsTT) c.9203_9204delinsTT (p.Thr3068Ile) c.1670_1671delinsTT (p.Thr557Ile) n.1381_1382delinsTT c.9262_9263delinsTT (n.9262_9263delinsTT) c.2132_2133delinsTT c.137_138delinsTT (p.Thr46Ile) c.211_212delinsTT c.9158_9159delinsTT (p.Thr3053Ile) | ClinVar dbSNP |