Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.32370402_32380145delCA2581463483BRCA2c.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
13g.32378158_32383530delCA2580087446BRCA2c.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
13g.32378942_32380826delCA10602552BRCA2c.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
13g.32380043C>ACA483262052BRCA2c.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
13g.32380043C=CA2082840300BRCA2c.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=)
13g.32380043C>GCA387757925BRCA2c.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
13g.32380043C>TCA026006BRCA2c.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
13g.32380043_32380044delinsCGCA2082840287BRCA2c.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=)
13g.32380044G>ACA026007BRCA2c.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
13g.32380044G>CCA387757932BRCA2c.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
13g.32380044G=CA2082840306BRCA2c.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=)
13g.32380044G>TCA387757934BRCA2c.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
13g.32380046delCA026008BRCA2c.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
13g.32380045G>ACA483262054BRCA2c.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
13g.32380045G>CCA483262055BRCA2c.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
13g.32380045G>TCA483262056BRCA2c.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
13g.32380046G>ACA387757944BRCA2c.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
13g.32380046G>CCA387757945BRCA2c.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
13g.32380046G>TCA387757938BRCA2c.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
13g.32380047A>CCA387757947BRCA2c.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)
13g.32380047A>GCA387757948BRCA2c.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
13g.32380047A>TCA387757952BRCA2c.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
13g.32380048G>ACA483262057BRCA2c.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
13g.32380048G>CCA387757953BRCA2c.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
13g.32380048G=CA2082840320BRCA2c.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=)
13g.32380048G>TCA387757955BRCA2c.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
13g.32380048_32380049delinsGCCA2082840333BRCA2c.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=)
13g.32380049C>ACA387757956BRCA2c.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
13g.32380049C=CA2082840342BRCA2c.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=)
13g.32380049C>GCA387757957BRCA2c.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
13g.32380049C>TCA026009BRCA2c.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
13g.32380049_32380050delinsGTCA2580087504BRCA2c.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
13g.32380052delCA2082840347BRCA2c.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
13g.32380050C>ACA026010BRCA2c.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
13g.32380050C=CA2082840356BRCA2c.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=)
13g.32380050C>GCA387757962BRCA2c.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
13g.32380050C>TCA026011BRCA2c.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
13g.32380051C>ACA483262059BRCA2c.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
13g.32380051C=CA2082840377BRCA2c.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=)
13g.32380051C>GCA6941350BRCA2c.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
13g.32380051C>TCA483262060BRCA2c.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
13g.32380052C>ACA387757970BRCA2c.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
13g.32380052C>GCA387757966BRCA2c.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
13g.32380052C>TCA387757968BRCA2c.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
13g.32380053T>ACA387757972BRCA2c.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
13g.32380053T>CCA387757973BRCA2c.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
13g.32380053T>GCA387757975BRCA2c.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)
13g.32380054T>ACA483262063BRCA2c.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
13g.32380054T>CCA483262062BRCA2c.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=)
13g.32380054T>GCA483262061BRCA2c.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=)
13g.32380055C>ACA387757978BRCA2c.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
13g.32380055C=CA2082840388BRCA2c.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=)
13g.32380055C>GCA387757981BRCA2c.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
13g.32380055C>TCA387757982BRCA2c.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
13g.32380056A=CA2082840403BRCA2c.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=)
13g.32380056A>CCA387757984BRCA2c.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
13g.32380056A>GCA387757986BRCA2c.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
13g.32380056A>TCA026012BRCA2c.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
13g.32380057C>ACA387757989BRCA2c.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)
13g.32380057C=CA2082840418BRCA2c.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=)
13g.32380057C>GCA10577495BRCA2c.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
13g.32380057C>TCA483262065BRCA2c.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
13g.32380058T>ACA387757995BRCA2c.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
13g.32380058T>CCA387757994BRCA2c.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)
13g.32380058T>GCA026013BRCA2c.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
13g.32380058T=CA2082840430BRCA2c.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=)
13g.32380059T>ACA387757997BRCA2c.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
13g.32380059T>CCA387757998BRCA2c.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)
13g.32380059T>GCA387757999BRCA2c.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
13g.32380060C>ACA387758000BRCA2c.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
13g.32380060C=CA2082840439BRCA2c.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=)
13g.32380060C>GCA026014BRCA2c.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
13g.32380060C>TCA483262066BRCA2c.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
13g.32380061A=CA2082840454BRCA2c.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=)
13g.32380061A>CCA387758001BRCA2c.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)
13g.32380061A>GCA026015BRCA2c.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
13g.32380061A>TCA387758004BRCA2c.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
13g.32380062G>ACA387758014BRCA2c.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
13g.32380062G>CCA387758016BRCA2c.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
13g.32380062G>TCA387758017BRCA2c.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
13g.32380063C>ACA387758018BRCA2c.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
13g.32380063C>GCA387758019BRCA2c.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
13g.32380063C>TCA483262070BRCA2c.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
13g.32380063_32380064delinsCACA2082840461BRCA2c.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=)
13g.32380064A=CA2082840476BRCA2c.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=)
13g.32380064A>CCA387758021BRCA2c.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)
13g.32380064A>GCA026016BRCA2c.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
13g.32380064A>TCA387758020BRCA2c.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
13g.32380066dupCA1139663166BRCA2c.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
13g.32380066delCA026018BRCA2c.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
13g.32380065A=CA2082840493BRCA2c.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=)
13g.32380065A>CCA387758024BRCA2c.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)
13g.32380065A>GCA387758027BRCA2c.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
13g.32380065A>TCA387758030BRCA2c.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
13g.32380066A=CA2082840507BRCA2c.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=)
13g.32380066A>CCA026017BRCA2c.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
13g.32380066A>GCA6941351BRCA2c.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
13g.32380066A>TCA387758049BRCA2c.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)
13g.32380067T>ACA387758054BRCA2c.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
13g.32380067T>CCA387758055BRCA2c.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
13g.32380067T>GCA387758056BRCA2c.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)
13g.32380068T>ACA387758057BRCA2c.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
13g.32380068T>CCA387758058BRCA2c.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)
13g.32380068T>GCA10579813BRCA2c.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
13g.32380068T=CA2082840522BRCA2c.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=)
13g.32380069T>ACA387758061BRCA2c.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
13g.32380069T>CCA6941352BRCA2c.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
13g.32380069T>GCA387758066BRCA2c.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
13g.32380069T=CA2082840558BRCA2c.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=)
13g.32380070T>ACA387758079BRCA2c.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
13g.32380070T>CCA483262076BRCA2c.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=)
13g.32380070T>GCA387758081BRCA2c.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)
13g.32380071T>ACA026019BRCA2c.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
13g.32380071T>CCA387758085BRCA2c.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
13g.32380071T>GCA10589552BRCA2c.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
13g.32380071T=CA2082840563BRCA2c.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=)
13g.32380072A=CA2082840574BRCA2c.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=)
13g.32380072A>CCA387758090BRCA2c.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)
13g.32380072A>GCA483262077BRCA2c.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
13g.32380072A>TCA387758092BRCA2c.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
13g.32380072dupCA658653815BRCA2c.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
13g.32380073G>ACA387758093BRCA2c.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
13g.32380073G>CCA387758094BRCA2c.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
13g.32380073G=CA2082840587BRCA2c.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=)
13g.32380073G>TCA387758095BRCA2c.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
13g.32380074A>CCA387758102BRCA2c.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
13g.32380074A>GCA387758104BRCA2c.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
13g.32380074A>TCA387758106BRCA2c.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
13g.32380075T>ACA387758107BRCA2c.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)
13g.32380075T>CCA483262081BRCA2c.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=)
13g.32380075T>GCA387758111BRCA2c.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)
13g.32380076C>ACA387758117BRCA2c.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
13g.32380076C=CA2082840591BRCA2c.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=)
13g.32380076C>GCA387758157BRCA2c.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
13g.32380076C>TCA026020BRCA2c.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
13g.32380077delCA2695217962BRCA2c.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)
13g.32380077C>ACA387758163BRCA2c.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
13g.32380077C=CA2082840598BRCA2c.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=)
13g.32380077C>GCA387758165BRCA2c.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
13g.32380077C>TCA387758168BRCA2c.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
13g.32380078A>CCA483262084BRCA2c.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=)
13g.32380078A>GCA483262087BRCA2c.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
13g.32380078A>TCA483262085BRCA2c.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
13g.32380079G>ACA026023BRCA2c.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
13g.32380079G>CCA387758170BRCA2c.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
13g.32380079G=CA2082840614BRCA2c.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=)
13g.32380079G>TCA026024BRCA2c.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
13g.32380080delCA2499222369BRCA2c.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
13g.32380080A=CA2082840624BRCA2c.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=)
13g.32380080A>CCA387758181BRCA2c.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
13g.32380080A>GCA16619788BRCA2c.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
13g.32380080A>TCA387758187BRCA2c.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
13g.32380081C>ACA387758194BRCA2c.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)
13g.32380081C=CA2082840630BRCA2c.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=)
13g.32380081C>GCA387758189BRCA2c.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
13g.32380081C>TCA247494884BRCA2c.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
13g.32380081_32380083delinsCTTCA2082840628BRCA2c.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=)
13g.32380082T>ACA387758198BRCA2c.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
13g.32380082T>CCA387758212BRCA2c.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)
13g.32380082T>GCA387758213BRCA2c.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
13g.32380082T=CA2082840642BRCA2c.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=)
13g.32380084delCA1139663168BRCA2c.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
13g.32380083_32380084delCA026025BRCA2c.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
13g.32380082_32380083insACA658823633BRCA2c.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
13g.32380083T>ACA387758217BRCA2c.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
13g.32380083T>CCA387758219BRCA2c.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
13g.32380083T>GCA387758222BRCA2c.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)
13g.32380083T=CA2082840654BRCA2c.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=)
13g.32380083_32380084insACA658653816BRCA2c.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
13g.32380084T>ACA026026BRCA2c.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
13g.32380084T>CCA10579814BRCA2c.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
13g.32380084T>GCA387758230BRCA2c.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)
13g.32380084T=CA2082840684BRCA2c.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=)
13g.32380084_32380085delinsATCA10579815BRCA2c.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
13g.32380084_32380085delinsTCCA2082840676BRCA2c.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=)
13g.32380085C>ACA10583151BRCA2c.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
13g.32380085C=CA2082840698BRCA2c.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=)
13g.32380085C>GCA026027BRCA2c.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
13g.32380085C>TCA026028BRCA2c.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
13g.32380086A>CCA387758235BRCA2c.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)
13g.32380086A>GCA387758236BRCA2c.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
13g.32380086A>TCA387758239BRCA2c.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
13g.32380087G>ACA483262092BRCA2c.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
13g.32380087G>CCA6941353BRCA2c.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
13g.32380087G=CA2082840713BRCA2c.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=)
13g.32380087G>TCA387758241BRCA2c.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
13g.32380088C>ACA387758248BRCA2c.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
13g.32380088C=CA2082840724BRCA2c.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=)
13g.32380088C>GCA387758252BRCA2c.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
13g.32380088C>TCA6941354BRCA2c.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
13g.32380089C>ACA387758260BRCA2c.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
13g.32380089C>GCA387758262BRCA2c.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
13g.32380089C>TCA387758274BRCA2c.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
13g.32380090_32380092delCA2580087509BRCA2c.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
13g.32380089_32380090insCTCA2499222370BRCA2c.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
13g.32380090A=CA2082840737BRCA2c.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=)
13g.32380090A>CCA483262093BRCA2c.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=)
13g.32380090A>GCA6941355BRCA2c.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
13g.32380090A>TCA483262094BRCA2c.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
13g.32380091T>ACA387758279BRCA2c.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)
13g.32380091T>CCA387758280BRCA2c.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)
13g.32380091T>GCA387758281BRCA2c.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)
13g.32380092_32380093dupCA2695217963BRCA2c.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)
13g.32380092C>ACA387758282BRCA2c.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)
13g.32380092C>GCA387758283BRCA2c.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
13g.32380092C>TCA387758284BRCA2c.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
13g.32380093T>ACA483262095BRCA2c.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
13g.32380093T>CCA483262096BRCA2c.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=)
13g.32380093T>GCA483262098BRCA2c.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
13g.32380094T>ACA387758288BRCA2c.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)
13g.32380094T>CCA026030BRCA2c.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
13g.32380094T>GCA026031BRCA2c.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
13g.32380094T=CA2082840756BRCA2c.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=)
13g.32380095G>ACA387758294BRCA2c.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
13g.32380095G>CCA387758295BRCA2c.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
13g.32380095G=CA2082840773BRCA2c.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=)
13g.32380095G>TCA026032BRCA2c.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
13g.32380095_32380098delCA645571583BRCA2c.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
13g.32380096T>ACA026033BRCA2c.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
13g.32380096T>CCA10579816BRCA2c.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
13g.32380096T>GCA387758327BRCA2c.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)
13g.32380096T=CA2082840795BRCA2c.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=)
13g.32380097T>ACA387758330BRCA2c.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
13g.32380097T>CCA387758332BRCA2c.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
13g.32380097T>GCA387758335BRCA2c.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
13g.32380097T=CA2082840802BRCA2c.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=)
13g.32380098C>ACA387758340BRCA2c.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
13g.32380098C=CA2082840824BRCA2c.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=)
13g.32380098C>GCA10579817BRCA2c.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
13g.32380098C>TCA026034BRCA2c.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
13g.32380098dupCA915948622BRCA2c.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
13g.32380099T>ACA483262100BRCA2c.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
13g.32380099T>CCA483262101BRCA2c.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
13g.32380099T>GCA483262102BRCA2c.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=)
13g.32380099T=CA2082840834BRCA2c.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=)
13g.32380100G>ACA387758357BRCA2c.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
13g.32380100G>CCA387758349BRCA2c.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
13g.32380100G=CA2082840848BRCA2c.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=)
13g.32380100G>TCA387758353BRCA2c.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)
13g.32380101A>CCA387758364BRCA2c.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)
13g.32380101A>GCA387758368BRCA2c.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)
13g.32380101A>TCA387758373BRCA2c.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
13g.32380101dupCA658656438BRCA2c.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
13g.32380102G>ACA483262105BRCA2c.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
13g.32380102G>CCA387758382BRCA2c.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
13g.32380102G=CA2082840864BRCA2c.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=)
13g.32380102G>TCA026035BRCA2c.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
13g.32380103G>ACA387758390BRCA2c.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
13g.32380103G>CCA387758392BRCA2c.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
13g.32380103G>TCA387758396BRCA2c.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
13g.32380104T>ACA026036BRCA2c.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
13g.32380104T>CCA387758401BRCA2c.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)
13g.32380104T>GCA387758402BRCA2c.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)
13g.32380104T=CA2082840877BRCA2c.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=)
13g.32380104_32380114delinsTGGACCTAATACA2082840887BRCA2c.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=)
13g.32380105G>ACA6941356BRCA2c.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
13g.32380105G>CCA483262107BRCA2c.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
13g.32380105G=CA2082840895BRCA2c.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=)
13g.32380105G>TCA483262108BRCA2c.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
13g.32380105_32380106insTAGCA2622601890BRCA2c.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
13g.32380108_32380117delCA658656440BRCA2c.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
13g.32380106G>ACA387758407BRCA2c.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
13g.32380106G>CCA387758403BRCA2c.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
13g.32380106G=CA2082840907BRCA2c.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=)
13g.32380106G>TCA10579818BRCA2c.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
13g.32380107A=CA2082840923BRCA2c.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=)
13g.32380107A>CCA387758417BRCA2c.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
13g.32380107A>GCA026037BRCA2c.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
13g.32380107A>TCA387758420BRCA2c.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
13g.32380107_32380108insTTTACA658823636BRCA2c.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
13g.32380107_32380108insATTTCA10589553BRCA2c.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
13g.32380108C>ACA387758426BRCA2c.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
13g.32380108C>GCA387758433BRCA2c.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
13g.32380108C>TCA483262110BRCA2c.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
13g.32380109C>ACA387758437BRCA2c.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
13g.32380109C=CA2082840937BRCA2c.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=)
13g.32380109C>GCA387758445BRCA2c.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
13g.32380109C>TCA6941357BRCA2c.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
13g.32380110T>ACA387758449BRCA2c.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)
13g.32380110T>CCA387758451BRCA2c.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)
13g.32380110T>GCA387758463BRCA2c.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
13g.32380110T=CA2082840949BRCA2c.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=)
13g.32380110dupCA2695199721BRCA2c.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
13g.32380111A=CA2082840952BRCA2c.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=)
13g.32380111A>CCA483262114BRCA2c.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=)
13g.32380111A>GCA026038BRCA2c.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
13g.32380111A>TCA483262116BRCA2c.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
13g.32380111_32380112insTTCA2573053828BRCA2c.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
13g.32380112A>CCA387758468BRCA2c.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)
13g.32380112A>GCA387758480BRCA2c.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
13g.32380112A>TCA387758472BRCA2c.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
13g.32380113T>ACA387758482BRCA2c.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
13g.32380113T>CCA387758487BRCA2c.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
13g.32380113T>GCA387758491BRCA2c.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)
13g.32380113T=CA2082840959BRCA2c.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=)
13g.32380114A>CCA483262119BRCA2c.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=)
13g.32380114A>GCA387758495BRCA2c.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
13g.32380114A>TCA483262121BRCA2c.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
13g.32380114dupCA658656443BRCA2c.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
13g.32380114_32380115delinsAGCA2082840971BRCA2c.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=)
13g.32380120_32380121insCAGGATTTCA2739277527BRCA2c.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
13g.32380115G>ACA387758500BRCA2c.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
13g.32380115G>CCA387758502BRCA2c.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
13g.32380115G=CA2082840985BRCA2c.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=)
13g.32380115G>TCA387758505BRCA2c.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
13g.32380116delCA026039BRCA2c.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
13g.32380116G>ACA026040BRCA2c.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
13g.32380116G>CCA387758525BRCA2c.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
13g.32380116G=CA2082840997BRCA2c.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=)
13g.32380116G>TCA026041BRCA2c.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
13g.32380117A=CA2082841005BRCA2c.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=)
13g.32380117A>CCA483262122BRCA2c.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=)
13g.32380117A>GCA483262124BRCA2c.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=)
13g.32380117A>TCA10579819BRCA2c.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
13g.32380118T>ACA387758527BRCA2c.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)
13g.32380118T>CCA387758532BRCA2c.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
13g.32380118T>GCA387758530BRCA2c.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
13g.32380118T=CA2082841014BRCA2c.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=)
13g.32380119T>ACA387758535BRCA2c.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
13g.32380119T>CCA387758538BRCA2c.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)
13g.32380119T>GCA387758541BRCA2c.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)
13g.32380119T=CA2082841022BRCA2c.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=)
13g.32380120T>ACA387758542BRCA2c.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
13g.32380120T>CCA483262125BRCA2c.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=)
13g.32380120T>GCA387758544BRCA2c.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)
13g.32380120_32380123delinsTGTCCA2082841032BRCA2c.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=)
13g.32380121G>ACA387758547BRCA2c.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
13g.32380121G>CCA387758550BRCA2c.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
13g.32380121G=CA2082841041BRCA2c.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=)
13g.32380121G>TCA387758553BRCA2c.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
13g.32380121_32380122delinsGTCA2082841039BRCA2c.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=)
13g.32380123_32380125delCA1139663171BRCA2c.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
13g.32380122delCA10579820BRCA2c.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
13g.32380122T>ACA387758555BRCA2c.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
13g.32380122T>CCA387758558BRCA2c.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
13g.32380122T>GCA387758568BRCA2c.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)
13g.32380123C>ACA483262128BRCA2c.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
13g.32380123C=CA2082841061BRCA2c.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=)
13g.32380123C>GCA483262129BRCA2c.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
13g.32380123C>TCA026042BRCA2c.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
13g.32380123_32380124delinsCGCA2082841060BRCA2c.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=)
13g.32380124delCA026043BRCA2c.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
13g.32380124G>ACA026044BRCA2c.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
13g.32380124G>CCA387758582BRCA2c.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
13g.32380124G=CA2082841077BRCA2c.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=)
13g.32380124G>TCA247495088BRCA2c.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
13g.32380125T>ACA387758586BRCA2c.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
13g.32380125T>CCA387758587BRCA2c.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)
13g.32380125T>GCA387758589BRCA2c.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)
13g.32380127delCA2695217964BRCA2c.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)
13g.32380126T>ACA483262132BRCA2c.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
13g.32380126T>CCA026045BRCA2c.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
13g.32380126T>GCA483262133BRCA2c.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
13g.32380126T=CA2082841083BRCA2c.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=)
13g.32380126_32380128delinsTTCCA2082841087BRCA2c.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=)
13g.32380127T>ACA387758593BRCA2c.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
13g.32380127T>CCA387758596BRCA2c.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
13g.32380127T>GCA387758600BRCA2c.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)
13g.32380128_32380129delCA919243156BRCA2c.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
13g.32380128C>ACA387758604BRCA2c.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)
13g.32380128C=CA2082841097BRCA2c.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=)
13g.32380128C>GCA6941358BRCA2c.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
13g.32380128C>TCA387758611BRCA2c.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
13g.32380129T>ACA483262135BRCA2c.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=)
13g.32380129T>CCA483262136BRCA2c.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=)
13g.32380129T>GCA483262137BRCA2c.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=)
13g.32380130G>ACA387758616BRCA2c.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
13g.32380130G>CCA387758618BRCA2c.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
13g.32380130G=CA2082841113BRCA2c.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=)
13g.32380130G>TCA10586088BRCA2c.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
13g.32380131T>ACA387758621BRCA2c.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)
13g.32380131T>CCA026046BRCA2c.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
13g.32380131T>GCA387758623BRCA2c.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
13g.32380131T=CA2082841128BRCA2c.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=)
13g.32380132T>ACA483262139BRCA2c.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=)
13g.32380132T>CCA483262141BRCA2c.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
13g.32380132T>GCA483262140BRCA2c.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=)
13g.32380133G>ACA387758627BRCA2c.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
13g.32380133G>CCA387758632BRCA2c.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
13g.32380133G=CA2082841137BRCA2c.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=)
13g.32380133G>TCA387758633BRCA2c.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
13g.32380134T>ACA387758644BRCA2c.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
13g.32380134T>CCA387758652BRCA2c.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)
13g.32380134T>GCA026047BRCA2c.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
13g.32380134T=CA2082841149BRCA2c.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=)
13g.32380134_32380140delCA2573053829BRCA2c.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
13g.32380135G>ACA483262142BRCA2c.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
13g.32380135G>CCA483262143BRCA2c.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
13g.32380135G=CA2082841171BRCA2c.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=)
13g.32380135G>TCA483262144BRCA2c.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=)
13g.32380135dupCA10586595BRCA2c.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
13g.32380135_32380136delinsGACA2082841168BRCA2c.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=)
13g.32380136A=CA2082841175BRCA2c.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=)
13g.32380136A>CCA387758671BRCA2c.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)
13g.32380136A>GCA026048BRCA2c.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
13g.32380136A>TCA026049BRCA2c.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
13g.32380142dupCA026052BRCA2c.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
13g.32380142delCA026054BRCA2c.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
13g.32380141_32380142delCA2695199722BRCA2c.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
13g.32380137A=CA2082841177BRCA2c.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=)
13g.32380137A>CCA387758673BRCA2c.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)
13g.32380137A>GCA10579821BRCA2c.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
13g.32380137A>TCA387758678BRCA2c.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
13g.32380138_32380153delCA645571585BRCA2c.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
13g.32380138A=CA2082841185BRCA2c.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=)
13g.32380138A>CCA387758684BRCA2c.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)
13g.32380138A>GCA16614392BRCA2c.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
13g.32380138A>TCA026050BRCA2c.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
13g.32380139A>CCA387758689BRCA2c.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)
13g.32380139A>GCA387758691BRCA2c.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
13g.32380139A>TCA387758688BRCA2c.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
13g.32380140A>CCA387758694BRCA2c.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)
13g.32380140A>GCA387758701BRCA2c.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
13g.32380140A>TCA387758704BRCA2c.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)
13g.32380140_32380144delinsAAACACA2082841194BRCA2c.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=)
13g.32380141_32380144delCA2499222371BRCA2c.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
13g.32380140_32380154delinsAAACAGGTAATGCACCA2082841195BRCA2c.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
13g.32380141A=CA2082841201BRCA2c.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=)
13g.32380141A>CCA387758708BRCA2c.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)
13g.32380141A>GCA483262149BRCA2c.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
13g.32380141A>TCA387758709BRCA2c.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
13g.32380141_32380142delinsGCA2499222372BRCA2c.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
13g.32380141_32380144delinsTTCA026051BRCA2c.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
13g.32380143_32380156delCA658656447BRCA2c.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
13g.32380142A=CA2082841214BRCA2c.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=)
13g.32380142A>CCA026053BRCA2c.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
13g.32380142A>GCA387758719BRCA2c.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
13g.32380142A>TCA387758723BRCA2c.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
13g.32380142_32380143delinsACCA2082841217BRCA2c.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=)
13g.32380143delCA658683861BRCA2c.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
13g.32380143C>ACA387758725BRCA2c.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
13g.32380143C>GCA387758728BRCA2c.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
13g.32380143C>TCA387758730BRCA2c.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
13g.32380143dupCA10589554BRCA2c.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
13g.32380143_32380144delinsTTCA2573149381BRCA2c.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

Number of alleles fetched