Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.61784259T>CCA16620530BRIP1c.1121+11A>G (n.1121+11A>G)
c.1628+11A>G (n.1628+11A>G)
n.368+11A>G
c.*1054+11A>G (n.*1054+11A>G)
n.3369+11A>G
c.1406+11A>G (n.1406+11A>G)
c.232+11A>G
c.1145+11A>G (n.1145+11A>G)
c.1085+11A>G (n.1085+11A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.61784259T=CA2269171987BRIP1c.1121+11A= (n.1121+11A=)
c.1628+11A= (n.1628+11A=)
n.368+11A=
c.*1054+11A= (n.*1054+11A=)
n.3369+11A=
c.1406+11A= (n.1406+11A=)
c.232+11A=
c.1145+11A= (n.1145+11A=)
c.1085+11A= (n.1085+11A=)
17g.61784260C>GCA2733907764BRIP1c.1121+10G>C (n.1121+10G>C)
c.1628+10G>C (n.1628+10G>C)
n.368+10G>C
c.*1054+10G>C (n.*1054+10G>C)
n.3369+10G>C
c.1406+10G>C (n.1406+10G>C)
c.232+10G>C
c.1145+10G>C (n.1145+10G>C)
c.1085+10G>C (n.1085+10G>C)
 dbSNP
17g.61784260C>TCA2733907765BRIP1c.1121+10G>A (n.1121+10G>A)
c.1628+10G>A (n.1628+10G>A)
n.368+10G>A
c.*1054+10G>A (n.*1054+10G>A)
n.3369+10G>A
c.1406+10G>A (n.1406+10G>A)
c.232+10G>A
c.1145+10G>A (n.1145+10G>A)
c.1085+10G>A (n.1085+10G>A)
 dbSNP
17g.61784261T>ACA2573154316BRIP1c.1121+9A>T (n.1121+9A>T)
c.1628+9A>T (n.1628+9A>T)
n.368+9A>T
c.*1054+9A>T (n.*1054+9A>T)
n.3369+9A>T
c.1406+9A>T (n.1406+9A>T)
c.232+9A>T
c.1145+9A>T (n.1145+9A>T)
c.1085+9A>T (n.1085+9A>T)
 ClinVar dbSNP
17g.61784261T>CCA2740093864BRIP1c.1121+9A>G (n.1121+9A>G)
c.1628+9A>G (n.1628+9A>G)
n.368+9A>G
c.*1054+9A>G (n.*1054+9A>G)
n.3369+9A>G
c.1406+9A>G (n.1406+9A>G)
c.232+9A>G
c.1145+9A>G (n.1145+9A>G)
c.1085+9A>G (n.1085+9A>G)
 ClinVar
17g.61784263C=CA2269171988BRIP1c.1121+7G= (n.1121+7G=)
c.1628+7G= (n.1628+7G=)
n.368+7G=
c.*1054+7G= (n.*1054+7G=)
n.3369+7G=
c.1406+7G= (n.1406+7G=)
c.232+7G=
c.1145+7G= (n.1145+7G=)
c.1085+7G= (n.1085+7G=)
17g.61784263C>GCA2733697053BRIP1c.1121+7G>C (n.1121+7G>C)
c.1628+7G>C (n.1628+7G>C)
n.368+7G>C
c.*1054+7G>C (n.*1054+7G>C)
n.3369+7G>C
c.1406+7G>C (n.1406+7G>C)
c.232+7G>C
c.1145+7G>C (n.1145+7G>C)
c.1085+7G>C (n.1085+7G>C)
 dbSNP
17g.61784263C>TCA1139665786BRIP1c.1121+7G>A (n.1121+7G>A)
c.1628+7G>A (n.1628+7G>A)
n.368+7G>A
c.*1054+7G>A (n.*1054+7G>A)
n.3369+7G>A
c.1406+7G>A (n.1406+7G>A)
c.232+7G>A
c.1145+7G>A (n.1145+7G>A)
c.1085+7G>A (n.1085+7G>A)
 ClinVar dbSNP gnomAD v4
17g.61784264A=CA2269171989BRIP1c.1121+6T= (n.1121+6T=)
c.1628+6T= (n.1628+6T=)
n.368+6T=
c.*1054+6T= (n.*1054+6T=)
n.3369+6T=
c.1406+6T= (n.1406+6T=)
c.232+6T=
c.1145+6T= (n.1145+6T=)
c.1085+6T= (n.1085+6T=)
17g.61784264A>CCA916081908BRIP1c.1121+6T>G (n.1121+6T>G)
c.1628+6T>G (n.1628+6T>G)
n.368+6T>G
c.*1054+6T>G (n.*1054+6T>G)
n.3369+6T>G
c.1406+6T>G (n.1406+6T>G)
c.232+6T>G
c.1145+6T>G (n.1145+6T>G)
c.1085+6T>G (n.1085+6T>G)
 ClinVar dbSNP
17g.61784264A>GCA891843522BRIP1c.1121+6T>C (n.1121+6T>C)
c.1628+6T>C (n.1628+6T>C)
n.368+6T>C
c.*1054+6T>C (n.*1054+6T>C)
n.3369+6T>C
c.1406+6T>C (n.1406+6T>C)
c.232+6T>C
c.1145+6T>C (n.1145+6T>C)
c.1085+6T>C (n.1085+6T>C)
 ClinVar dbSNP gnomAD v4
17g.61784264A>TCA2733677232BRIP1c.1121+6T>A (n.1121+6T>A)
c.1628+6T>A (n.1628+6T>A)
n.368+6T>A
c.*1054+6T>A (n.*1054+6T>A)
n.3369+6T>A
c.1406+6T>A (n.1406+6T>A)
c.232+6T>A
c.1145+6T>A (n.1145+6T>A)
c.1085+6T>A (n.1085+6T>A)
 dbSNP
17g.61784265C=CA2269171990BRIP1c.1121+5G= (n.1121+5G=)
c.1628+5G= (n.1628+5G=)
n.368+5G=
c.*1054+5G= (n.*1054+5G=)
n.3369+5G=
c.1406+5G= (n.1406+5G=)
c.232+5G=
c.1145+5G= (n.1145+5G=)
c.1085+5G= (n.1085+5G=)
17g.61784265C>TCA8690711BRIP1c.1121+5G>A (n.1121+5G>A)
c.1628+5G>A (n.1628+5G>A)
n.368+5G>A
c.*1054+5G>A (n.*1054+5G>A)
n.3369+5G>A
c.1406+5G>A (n.1406+5G>A)
c.232+5G>A
c.1145+5G>A (n.1145+5G>A)
c.1085+5G>A (n.1085+5G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.61784266T>CCA2810069473BRIP1c.1121+4A>G (n.1121+4A>G)
c.1628+4A>G (n.1628+4A>G)
n.368+4A>G
c.*1054+4A>G (n.*1054+4A>G)
n.3369+4A>G
c.1406+4A>G (n.1406+4A>G)
c.232+4A>G
c.1145+4A>G (n.1145+4A>G)
c.1085+4A>G (n.1085+4A>G)
17g.61784267delCA2580094530BRIP1c.1121+4del (n.1121+4del)
c.1628+4del (n.1628+4del)
n.368+4del
c.*1054+4del (n.*1054+4del)
n.3369+4del
c.1406+4del (n.1406+4del)
c.232+4del
c.1145+4del (n.1145+4del)
c.1085+4del (n.1085+4del)
 ClinVar dbSNP
17g.61784268A>CCA400480835BRIP1c.1121+2T>G (n.1121+2T>G)
c.1628+2T>G (n.1628+2T>G)
n.368+2T>G
c.*1054+2T>G (n.*1054+2T>G)
n.3369+2T>G
c.1406+2T>G (n.1406+2T>G)
c.232+2T>G
c.1145+2T>G (n.1145+2T>G)
c.1085+2T>G (n.1085+2T>G)
 ClinVar
17g.61784268A>GCA400480837BRIP1c.1121+2T>C (n.1121+2T>C)
c.1628+2T>C (n.1628+2T>C)
n.368+2T>C
c.*1054+2T>C (n.*1054+2T>C)
n.3369+2T>C
c.1406+2T>C (n.1406+2T>C)
c.232+2T>C
c.1145+2T>C (n.1145+2T>C)
c.1085+2T>C (n.1085+2T>C)
17g.61784268A>TCA400480839BRIP1c.1121+2T>A (n.1121+2T>A)
c.1628+2T>A (n.1628+2T>A)
n.368+2T>A
c.*1054+2T>A (n.*1054+2T>A)
n.3369+2T>A
c.1406+2T>A (n.1406+2T>A)
c.232+2T>A
c.1145+2T>A (n.1145+2T>A)
c.1085+2T>A (n.1085+2T>A)
 dbSNP
17g.61784269C>ACA400480846BRIP1c.1121+1G>T (n.1121+1G>T)
c.1628+1G>T (n.1628+1G>T)
n.368+1G>T
c.*1054+1G>T (n.*1054+1G>T)
n.3369+1G>T
c.1406+1G>T (n.1406+1G>T)
c.232+1G>T
c.1145+1G>T (n.1145+1G>T)
c.1085+1G>T (n.1085+1G>T)
 ClinVar
17g.61784269C=CA2269171991BRIP1c.1121+1G= (n.1121+1G=)
c.1628+1G= (n.1628+1G=)
n.368+1G=
c.*1054+1G= (n.*1054+1G=)
n.3369+1G=
c.1406+1G= (n.1406+1G=)
c.232+1G=
c.1145+1G= (n.1145+1G=)
c.1085+1G= (n.1085+1G=)
17g.61784269C>GCA400480843BRIP1c.1121+1G>C (n.1121+1G>C)
c.1628+1G>C (n.1628+1G>C)
n.368+1G>C
c.*1054+1G>C (n.*1054+1G>C)
n.3369+1G>C
c.1406+1G>C (n.1406+1G>C)
c.232+1G>C
c.1145+1G>C (n.1145+1G>C)
c.1085+1G>C (n.1085+1G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.61784269C>TCA400480842BRIP1c.1121+1G>A (n.1121+1G>A)
c.1628+1G>A (n.1628+1G>A)
n.368+1G>A
c.*1054+1G>A (n.*1054+1G>A)
n.3369+1G>A
c.1406+1G>A (n.1406+1G>A)
c.232+1G>A
c.1145+1G>A (n.1145+1G>A)
c.1085+1G>A (n.1085+1G>A)
 dbSNP gnomAD v4
17g.61784269_61784272delinsCCTGCA2269171992BRIP1c.1119_1121+1delinsCAGG
c.1626_1628+1delinsCAGG
n.366_368+1delinsCAGG
c.*1052_*1054+1delinsCAGG
n.3367_3369+1delinsCAGG
c.1404_1406+1delinsCAGG
c.230_232+1delinsCAGG
c.1143_1145+1delinsCAGG
c.1083_1085+1delinsCAGG
17g.61784270C>ACA400480849BRIP1c.1121G>T (p.Arg374Ile)
c.1628G>T (p.Arg543Ile)
n.368G>T
c.*1054G>T (n.*1054G>T)
n.3369G>T
c.1406G>T (p.Arg469Ile)
c.232G>T
c.1145G>T (p.Arg382Ile)
c.1085G>T (p.Arg362Ile)
17g.61784270C>GCA400480853BRIP1c.1121G>C (p.Arg374Thr)
c.1628G>C (p.Arg543Thr)
n.368G>C
c.*1054G>C (n.*1054G>C)
n.3369G>C
c.1406G>C (p.Arg469Thr)
c.232G>C
c.1145G>C (p.Arg382Thr)
c.1085G>C (p.Arg362Thr)
 dbSNP
17g.61784270C>TCA400480851BRIP1c.1121G>A (p.Arg374Lys)
c.1628G>A (p.Arg543Lys)
n.368G>A
c.*1054G>A (n.*1054G>A)
n.3369G>A
c.1406G>A (p.Arg469Lys)
c.232G>A
c.1145G>A (p.Arg382Lys)
c.1085G>A (p.Arg362Lys)
 dbSNP
17g.61784272_61784274delCA658684155BRIP1c.1119_1121del (p.Ser373del)
c.1626_1628del (p.Ser542del)
n.366_368del
c.*1052_*1054del (n.*1052_*1054del)
n.3367_3369del
c.1404_1406del (p.Ser468del)
c.230_232del
c.1143_1145del (p.Ser381del)
c.1083_1085del (p.Ser361del)
 ClinVar dbSNP
17g.61784271T>ACA400480855BRIP1c.1120A>T (p.Arg374Ter)
c.1627A>T (p.Arg543Ter)
n.367A>T
c.*1053A>T (n.*1053A>T)
n.3368A>T
c.1405A>T (p.Arg469Ter)
c.231A>T
c.1144A>T (p.Arg382Ter)
c.1084A>T (p.Arg362Ter)
17g.61784271T>CCA400480857BRIP1c.1120A>G (p.Arg374Gly)
c.1627A>G (p.Arg543Gly)
n.367A>G
c.*1053A>G (n.*1053A>G)
n.3368A>G
c.1405A>G (p.Arg469Gly)
c.231A>G
c.1144A>G (p.Arg382Gly)
c.1084A>G (p.Arg362Gly)
 dbSNP
17g.61784271T>GCA501150678BRIP1c.1120A>C (p.Arg374=)
c.1627A>C (p.Arg543=)
n.367A>C
c.*1053A>C (n.*1053A>C)
n.3368A>C
c.1405A>C (p.Arg469=)
c.231A>C
c.1144A>C (p.Arg382=)
c.1084A>C (p.Arg362=)
 ClinVar
17g.61784272G>ACA186830BRIP1c.1119C>T (p.Ser373=)
c.1626C>T (p.Ser542=)
n.366C>T
c.*1052C>T (n.*1052C>T)
n.3367C>T
c.1404C>T (p.Ser468=)
c.230C>T
c.1143C>T (p.Ser381=)
c.1083C>T (p.Ser361=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.61784272G>CCA400480860BRIP1c.1119C>G (p.Ser373Arg)
c.1626C>G (p.Ser542Arg)
n.366C>G
c.*1052C>G (n.*1052C>G)
n.3367C>G
c.1404C>G (p.Ser468Arg)
c.230C>G
c.1143C>G (p.Ser381Arg)
c.1083C>G (p.Ser361Arg)
 ClinVar dbSNP gnomAD v4
17g.61784272G=CA2269171993BRIP1c.1119C= (p.Ser373=)
c.1626C= (p.Ser542=)
n.366C=
c.*1052C= (n.*1052C=)
n.3367C=
c.1404C= (p.Ser468=)
c.230C=
c.1143C= (p.Ser381=)
c.1083C= (p.Ser361=)
17g.61784272G>TCA400480862BRIP1c.1119C>A (p.Ser373Arg)
c.1626C>A (p.Ser542Arg)
n.366C>A
c.*1052C>A (n.*1052C>A)
n.3367C>A
c.1404C>A (p.Ser468Arg)
c.230C>A
c.1143C>A (p.Ser381Arg)
c.1083C>A (p.Ser361Arg)
 dbSNP
17g.61784273C>ACA400480869BRIP1c.1118G>T (p.Ser373Ile)
c.1625G>T (p.Ser542Ile)
n.365G>T
c.*1051G>T (n.*1051G>T)
n.3366G>T
c.1403G>T (p.Ser468Ile)
c.229G>T
c.1142G>T (p.Ser381Ile)
c.1082G>T (p.Ser361Ile)
 dbSNP
17g.61784273C=CA2269171994BRIP1c.1118G= (p.Ser373=)
c.1625G= (p.Ser542=)
n.365G=
c.*1051G= (n.*1051G=)
n.3366G=
c.1403G= (p.Ser468=)
c.229G=
c.1142G= (p.Ser381=)
c.1082G= (p.Ser361=)
17g.61784273C>GCA400480866BRIP1c.1118G>C (p.Ser373Thr)
c.1625G>C (p.Ser542Thr)
n.365G>C
c.*1051G>C (n.*1051G>C)
n.3366G>C
c.1403G>C (p.Ser468Thr)
c.229G>C
c.1142G>C (p.Ser381Thr)
c.1082G>C (p.Ser361Thr)
 dbSNP
17g.61784273C>TCA400480865BRIP1c.1118G>A (p.Ser373Asn)
c.1625G>A (p.Ser542Asn)
n.365G>A
c.*1051G>A (n.*1051G>A)
n.3366G>A
c.1403G>A (p.Ser468Asn)
c.229G>A
c.1142G>A (p.Ser381Asn)
c.1082G>A (p.Ser361Asn)
 ClinVar dbSNP
17g.61784274T>ACA400480871BRIP1c.1117A>T (p.Ser373Cys)
c.1624A>T (p.Ser542Cys)
n.364A>T
c.*1050A>T (n.*1050A>T)
n.3365A>T
c.1402A>T (p.Ser468Cys)
c.228A>T
c.1141A>T (p.Ser381Cys)
c.1081A>T (p.Ser361Cys)
17g.61784274T>CCA400480873BRIP1c.1117A>G (p.Ser373Gly)
c.1624A>G (p.Ser542Gly)
n.364A>G
c.*1050A>G (n.*1050A>G)
n.3365A>G
c.1402A>G (p.Ser468Gly)
c.228A>G
c.1141A>G (p.Ser381Gly)
c.1081A>G (p.Ser361Gly)
17g.61784274T>GCA400480875BRIP1c.1117A>C (p.Ser373Arg)
c.1624A>C (p.Ser542Arg)
n.364A>C
c.*1050A>C (n.*1050A>C)
n.3365A>C
c.1402A>C (p.Ser468Arg)
c.228A>C
c.1141A>C (p.Ser381Arg)
c.1081A>C (p.Ser361Arg)
17g.61784275delCA2695226756BRIP1c.1116del (p.Asn372LysfsTer?)
c.1623del (p.Asn541LysfsTer?)
n.363del
c.*1049del (n.*1049del)
n.3364del
c.1401del (p.Asn467LysfsTer?)
c.227del
c.1140del (p.Asn380LysfsTer?)
c.1080del (p.Asn360LysfsTer?)
17g.61784275A=CA2269171995BRIP1c.1116T= (p.Asn372=)
c.1623T= (p.Asn541=)
n.363T=
c.*1049T= (n.*1049T=)
n.3364T=
c.1401T= (p.Asn467=)
c.227T=
c.1140T= (p.Asn380=)
c.1080T= (p.Asn360=)
17g.61784275A>CCA400480877BRIP1c.1116T>G (p.Asn372Lys)
c.1623T>G (p.Asn541Lys)
n.363T>G
c.*1049T>G (n.*1049T>G)
n.3364T>G
c.1401T>G (p.Asn467Lys)
c.227T>G
c.1140T>G (p.Asn380Lys)
c.1080T>G (p.Asn360Lys)
 ClinVar dbSNP
17g.61784275A>GCA198202BRIP1c.1116T>C (p.Asn372=)
c.1623T>C (p.Asn541=)
n.363T>C
c.*1049T>C (n.*1049T>C)
n.3364T>C
c.1401T>C (p.Asn467=)
c.227T>C
c.1140T>C (p.Asn380=)
c.1080T>C (p.Asn360=)
 ClinVar dbSNP
17g.61784275A>TCA400480880BRIP1c.1116T>A (p.Asn372Lys)
c.1623T>A (p.Asn541Lys)
n.363T>A
c.*1049T>A (n.*1049T>A)
n.3364T>A
c.1401T>A (p.Asn467Lys)
c.227T>A
c.1140T>A (p.Asn380Lys)
c.1080T>A (p.Asn360Lys)
17g.61784275_61784276delinsATCA2269171996BRIP1c.1115_1116delinsAT (p.Asn372=)
c.1622_1623delinsAT (p.Asn541=)
n.362_363delinsAT
c.*1048_*1049delinsAT (n.*1048_*1049delinsAT)
n.3363_3364delinsAT
c.1400_1401delinsAT (p.Asn467=)
c.226_227delinsAT
c.1139_1140delinsAT (p.Asn380=)
c.1079_1080delinsAT (p.Asn360=)
17g.61784276T>ACA400480882BRIP1c.1115A>T (p.Asn372Ile)
c.1622A>T (p.Asn541Ile)
n.362A>T
c.*1048A>T (n.*1048A>T)
n.3363A>T
c.1400A>T (p.Asn467Ile)
c.226A>T
c.1139A>T (p.Asn380Ile)
c.1079A>T (p.Asn360Ile)
17g.61784276T>CCA400480886BRIP1c.1115A>G (p.Asn372Ser)
c.1622A>G (p.Asn541Ser)
n.362A>G
c.*1048A>G (n.*1048A>G)
n.3363A>G
c.1400A>G (p.Asn467Ser)
c.226A>G
c.1139A>G (p.Asn380Ser)
c.1079A>G (p.Asn360Ser)
17g.61784276T>GCA400480884BRIP1c.1115A>C (p.Asn372Thr)
c.1622A>C (p.Asn541Thr)
n.362A>C
c.*1048A>C (n.*1048A>C)
n.3363A>C
c.1400A>C (p.Asn467Thr)
c.226A>C
c.1139A>C (p.Asn380Thr)
c.1079A>C (p.Asn360Thr)
17g.61784279delCA915950708BRIP1c.1115del (p.Asn372IlefsTer?)
c.1622del (p.Asn541IlefsTer?)
n.362del
c.*1048del (n.*1048del)
n.3363del
c.1400del (p.Asn467IlefsTer?)
c.226del
c.1139del (p.Asn380IlefsTer?)
c.1079del (p.Asn360IlefsTer?)
 ClinVar dbSNP
17g.61784277T>ACA400480888BRIP1c.1114A>T (p.Asn372Tyr)
c.1621A>T (p.Asn541Tyr)
n.361A>T
c.*1047A>T (n.*1047A>T)
n.3362A>T
c.1399A>T (p.Asn467Tyr)
c.225A>T
c.1138A>T (p.Asn380Tyr)
c.1078A>T (p.Asn360Tyr)
 gnomAD v4
17g.61784277T>CCA400480890BRIP1c.1114A>G (p.Asn372Asp)
c.1621A>G (p.Asn541Asp)
n.361A>G
c.*1047A>G (n.*1047A>G)
n.3362A>G
c.1399A>G (p.Asn467Asp)
c.225A>G
c.1138A>G (p.Asn380Asp)
c.1078A>G (p.Asn360Asp)
17g.61784277T>GCA400480892BRIP1c.1114A>C (p.Asn372His)
c.1621A>C (p.Asn541His)
n.361A>C
c.*1047A>C (n.*1047A>C)
n.3362A>C
c.1399A>C (p.Asn467His)
c.225A>C
c.1138A>C (p.Asn380His)
c.1078A>C (p.Asn360His)
17g.61784278T>ACA400480894BRIP1c.1113A>T (p.Gln371His)
c.1620A>T (p.Gln540His)
n.360A>T
c.*1046A>T (n.*1046A>T)
n.3361A>T
c.1398A>T (p.Gln466His)
c.224A>T
c.1137A>T (p.Gln379His)
c.1077A>T (p.Gln359His)
17g.61784278T>CCA501150679BRIP1c.1113A>G (p.Gln371=)
c.1620A>G (p.Gln540=)
n.360A>G
c.*1046A>G (n.*1046A>G)
n.3361A>G
c.1398A>G (p.Gln466=)
c.224A>G
c.1137A>G (p.Gln379=)
c.1077A>G (p.Gln359=)
 ClinVar dbSNP gnomAD v4
17g.61784278T>GCA400480896BRIP1c.1113A>C (p.Gln371His)
c.1620A>C (p.Gln540His)
n.360A>C
c.*1046A>C (n.*1046A>C)
n.3361A>C
c.1398A>C (p.Gln466His)
c.224A>C
c.1137A>C (p.Gln379His)
c.1077A>C (p.Gln359His)
17g.61784279T>ACA168446BRIP1c.1112A>T (p.Gln371Leu)
c.1619A>T (p.Gln540Leu)
n.359A>T
c.*1045A>T (n.*1045A>T)
n.3360A>T
c.1397A>T (p.Gln466Leu)
c.223A>T
c.1136A>T (p.Gln379Leu)
c.1076A>T (p.Gln359Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.61784279T>CCA400480899BRIP1c.1112A>G (p.Gln371Arg)
c.1619A>G (p.Gln540Arg)
n.359A>G
c.*1045A>G (n.*1045A>G)
n.3360A>G
c.1397A>G (p.Gln466Arg)
c.223A>G
c.1136A>G (p.Gln379Arg)
c.1076A>G (p.Gln359Arg)
17g.61784279T>GCA400480901BRIP1c.1112A>C (p.Gln371Pro)
c.1619A>C (p.Gln540Pro)
n.359A>C
c.*1045A>C (n.*1045A>C)
n.3360A>C
c.1397A>C (p.Gln466Pro)
c.223A>C
c.1136A>C (p.Gln379Pro)
c.1076A>C (p.Gln359Pro)
17g.61784279T=CA2269171997BRIP1c.1112A= (p.Gln371=)
c.1619A= (p.Gln540=)
n.359A=
c.*1045A= (n.*1045A=)
n.3360A=
c.1397A= (p.Gln466=)
c.223A=
c.1136A= (p.Gln379=)
c.1076A= (p.Gln359=)
17g.61784280G>ACA400480903BRIP1c.1111C>T (p.Gln371Ter)
c.1618C>T (p.Gln540Ter)
n.358C>T
c.*1044C>T (n.*1044C>T)
n.3359C>T
c.1396C>T (p.Gln466Ter)
c.222C>T
c.1135C>T (p.Gln379Ter)
c.1075C>T (p.Gln359Ter)
 ClinVar dbSNP
17g.61784280G>CCA400480905BRIP1c.1111C>G (p.Gln371Glu)
c.1618C>G (p.Gln540Glu)
n.358C>G
c.*1044C>G (n.*1044C>G)
n.3359C>G
c.1396C>G (p.Gln466Glu)
c.222C>G
c.1135C>G (p.Gln379Glu)
c.1075C>G (p.Gln359Glu)
 dbSNP
17g.61784280G=CA2269171998BRIP1c.1111C= (p.Gln371=)
c.1618C= (p.Gln540=)
n.358C=
c.*1044C= (n.*1044C=)
n.3359C=
c.1396C= (p.Gln466=)
c.222C=
c.1135C= (p.Gln379=)
c.1075C= (p.Gln359=)
17g.61784280G>TCA400480907BRIP1c.1111C>A (p.Gln371Lys)
c.1618C>A (p.Gln540Lys)
n.358C>A
c.*1044C>A (n.*1044C>A)
n.3359C>A
c.1396C>A (p.Gln466Lys)
c.222C>A
c.1135C>A (p.Gln379Lys)
c.1075C>A (p.Gln359Lys)
 dbSNP
17g.61784281C>ACA400480909BRIP1c.1110G>T (p.Arg370Ser)
c.1617G>T (p.Arg539Ser)
n.357G>T
c.*1043G>T (n.*1043G>T)
n.3358G>T
c.1395G>T (p.Arg465Ser)
c.221G>T
c.1134G>T (p.Arg378Ser)
c.1074G>T (p.Arg358Ser)
 dbSNP
17g.61784281C>GCA400480911BRIP1c.1110G>C (p.Arg370Ser)
c.1617G>C (p.Arg539Ser)
n.357G>C
c.*1043G>C (n.*1043G>C)
n.3358G>C
c.1395G>C (p.Arg465Ser)
c.221G>C
c.1134G>C (p.Arg378Ser)
c.1074G>C (p.Arg358Ser)
 dbSNP
17g.61784281C>TCA501150680BRIP1c.1110G>A (p.Arg370=)
c.1617G>A (p.Arg539=)
n.357G>A
c.*1043G>A (n.*1043G>A)
n.3358G>A
c.1395G>A (p.Arg465=)
c.221G>A
c.1134G>A (p.Arg378=)
c.1074G>A (p.Arg358=)
 ClinVar dbSNP
17g.61784282C>ACA8690712BRIP1c.1109G>T (p.Arg370Met)
c.1616G>T (p.Arg539Met)
n.356G>T
c.*1042G>T (n.*1042G>T)
n.3357G>T
c.1394G>T (p.Arg465Met)
c.220G>T
c.1133G>T (p.Arg378Met)
c.1073G>T (p.Arg358Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.61784282C=CA2269171999BRIP1c.1109G= (p.Arg370=)
c.1616G= (p.Arg539=)
n.356G=
c.*1042G= (n.*1042G=)
n.3357G=
c.1394G= (p.Arg465=)
c.220G=
c.1133G= (p.Arg378=)
c.1073G= (p.Arg358=)
17g.61784282C>GCA400480914BRIP1c.1109G>C (p.Arg370Thr)
c.1616G>C (p.Arg539Thr)
n.356G>C
c.*1042G>C (n.*1042G>C)
n.3357G>C
c.1394G>C (p.Arg465Thr)
c.220G>C
c.1133G>C (p.Arg378Thr)
c.1073G>C (p.Arg358Thr)
 dbSNP
17g.61784282C>TCA166163BRIP1c.1109G>A (p.Arg370Lys)
c.1616G>A (p.Arg539Lys)
n.356G>A
c.*1042G>A (n.*1042G>A)
n.3357G>A
c.1394G>A (p.Arg465Lys)
c.220G>A
c.1133G>A (p.Arg378Lys)
c.1073G>A (p.Arg358Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.61784283T>ACA400480917BRIP1c.1108A>T (p.Arg370Trp)
c.1615A>T (p.Arg539Trp)
n.355A>T
c.*1041A>T (n.*1041A>T)
n.3356A>T
c.1393A>T (p.Arg465Trp)
c.219A>T
c.1132A>T (p.Arg378Trp)
c.1072A>T (p.Arg358Trp)
17g.61784283T>CCA400480919BRIP1c.1108A>G (p.Arg370Gly)
c.1615A>G (p.Arg539Gly)
n.355A>G
c.*1041A>G (n.*1041A>G)
n.3356A>G
c.1393A>G (p.Arg465Gly)
c.219A>G
c.1132A>G (p.Arg378Gly)
c.1072A>G (p.Arg358Gly)
17g.61784283T>GCA501150681BRIP1c.1108A>C (p.Arg370=)
c.1615A>C (p.Arg539=)
n.355A>C
c.*1041A>C (n.*1041A>C)
n.3356A>C
c.1393A>C (p.Arg465=)
c.219A>C
c.1132A>C (p.Arg378=)
c.1072A>C (p.Arg358=)
 ClinVar dbSNP
17g.61784283T=CA2269172001BRIP1c.1108A= (p.Arg370=)
c.1615A= (p.Arg539=)
n.355A=
c.*1041A= (n.*1041A=)
n.3356A=
c.1393A= (p.Arg465=)
c.219A=
c.1132A= (p.Arg378=)
c.1072A= (p.Arg358=)
17g.61784283_61784284delinsTACA2269172000BRIP1c.1107_1108delinsTA (p.Phe369=)
c.1614_1615delinsTA (p.Phe538=)
n.354_355delinsTA
c.*1040_*1041delinsTA (n.*1040_*1041delinsTA)
n.3355_3356delinsTA
c.1392_1393delinsTA (p.Phe464=)
c.218_219delinsTA
c.1131_1132delinsTA (p.Phe377=)
c.1071_1072delinsTA (p.Phe357=)
17g.61784284A>CCA400480922BRIP1c.1107T>G (p.Phe369Leu)
c.1614T>G (p.Phe538Leu)
n.354T>G
c.*1040T>G (n.*1040T>G)
n.3355T>G
c.1392T>G (p.Phe464Leu)
c.218T>G
c.1131T>G (p.Phe377Leu)
c.1071T>G (p.Phe357Leu)
17g.61784284A>GCA501150682BRIP1c.1107T>C (p.Phe369=)
c.1614T>C (p.Phe538=)
n.354T>C
c.*1040T>C (n.*1040T>C)
n.3355T>C
c.1392T>C (p.Phe464=)
c.218T>C
c.1131T>C (p.Phe377=)
c.1071T>C (p.Phe357=)
 ClinVar dbSNP
17g.61784284A>TCA400480923BRIP1c.1107T>A (p.Phe369Leu)
c.1614T>A (p.Phe538Leu)
n.354T>A
c.*1040T>A (n.*1040T>A)
n.3355T>A
c.1392T>A (p.Phe464Leu)
c.218T>A
c.1131T>A (p.Phe377Leu)
c.1071T>A (p.Phe357Leu)
17g.61784288delCA916081910BRIP1c.1107del (p.Phe369LeufsTer?)
c.1614del (p.Phe538LeufsTer?)
n.354del
c.*1040del (n.*1040del)
n.3355del
c.1392del (p.Phe464LeufsTer?)
c.218del
c.1131del (p.Phe377LeufsTer?)
c.1071del (p.Phe357LeufsTer?)
 ClinVar dbSNP
17g.61784285A>CCA400480926BRIP1c.1106T>G (p.Phe369Cys)
c.1613T>G (p.Phe538Cys)
n.353T>G
c.*1039T>G (n.*1039T>G)
n.3354T>G
c.1391T>G (p.Phe464Cys)
c.217T>G
c.1130T>G (p.Phe377Cys)
c.1070T>G (p.Phe357Cys)
17g.61784285A>GCA400480927BRIP1c.1106T>C (p.Phe369Ser)
c.1613T>C (p.Phe538Ser)
n.353T>C
c.*1039T>C (n.*1039T>C)
n.3354T>C
c.1391T>C (p.Phe464Ser)
c.217T>C
c.1130T>C (p.Phe377Ser)
c.1070T>C (p.Phe357Ser)
17g.61784285A>TCA400480929BRIP1c.1106T>A (p.Phe369Tyr)
c.1613T>A (p.Phe538Tyr)
n.353T>A
c.*1039T>A (n.*1039T>A)
n.3354T>A
c.1391T>A (p.Phe464Tyr)
c.217T>A
c.1130T>A (p.Phe377Tyr)
c.1070T>A (p.Phe357Tyr)
17g.61784286A=CA2269172002BRIP1c.1105T= (p.Phe369=)
c.1612T= (p.Phe538=)
n.352T=
c.*1038T= (n.*1038T=)
n.3353T=
c.1390T= (p.Phe464=)
c.216T=
c.1129T= (p.Phe377=)
c.1069T= (p.Phe357=)
17g.61784286A>CCA400480931BRIP1c.1105T>G (p.Phe369Val)
c.1612T>G (p.Phe538Val)
n.352T>G
c.*1038T>G (n.*1038T>G)
n.3353T>G
c.1390T>G (p.Phe464Val)
c.216T>G
c.1129T>G (p.Phe377Val)
c.1069T>G (p.Phe357Val)
17g.61784286A>GCA400480933BRIP1c.1105T>C (p.Phe369Leu)
c.1612T>C (p.Phe538Leu)
n.352T>C
c.*1038T>C (n.*1038T>C)
n.3353T>C
c.1390T>C (p.Phe464Leu)
c.216T>C
c.1129T>C (p.Phe377Leu)
c.1069T>C (p.Phe357Leu)
 ClinVar dbSNP
17g.61784286A>TCA400480935BRIP1c.1105T>A (p.Phe369Ile)
c.1612T>A (p.Phe538Ile)
n.352T>A
c.*1038T>A (n.*1038T>A)
n.3353T>A
c.1390T>A (p.Phe464Ile)
c.216T>A
c.1129T>A (p.Phe377Ile)
c.1069T>A (p.Phe357Ile)
17g.61784287A>CCA501150685BRIP1c.1104T>G (p.Leu368=)
c.1611T>G (p.Leu537=)
n.351T>G
c.*1037T>G (n.*1037T>G)
n.3352T>G
c.1389T>G (p.Leu463=)
c.215T>G
c.1128T>G (p.Leu376=)
c.1068T>G (p.Leu356=)
17g.61784287A>GCA501150684BRIP1c.1104T>C (p.Leu368=)
c.1611T>C (p.Leu537=)
n.351T>C
c.*1037T>C (n.*1037T>C)
n.3352T>C
c.1389T>C (p.Leu463=)
c.215T>C
c.1128T>C (p.Leu376=)
c.1068T>C (p.Leu356=)
17g.61784287A>TCA501150683BRIP1c.1104T>A (p.Leu368=)
c.1611T>A (p.Leu537=)
n.351T>A
c.*1037T>A (n.*1037T>A)
n.3352T>A
c.1389T>A (p.Leu463=)
c.215T>A
c.1128T>A (p.Leu376=)
c.1068T>A (p.Leu356=)
 dbSNP
17g.61784288A=CA2269172003BRIP1c.1103T= (p.Leu368=)
c.1610T= (p.Leu537=)
n.350T=
c.*1036T= (n.*1036T=)
n.3351T=
c.1388T= (p.Leu463=)
c.214T=
c.1127T= (p.Leu376=)
c.1067T= (p.Leu356=)
17g.61784288A>CCA400480939BRIP1c.1103T>G (p.Leu368Arg)
c.1610T>G (p.Leu537Arg)
n.350T>G
c.*1036T>G (n.*1036T>G)
n.3351T>G
c.1388T>G (p.Leu463Arg)
c.214T>G
c.1127T>G (p.Leu376Arg)
c.1067T>G (p.Leu356Arg)
17g.61784288A>GCA400480941BRIP1c.1103T>C (p.Leu368Pro)
c.1610T>C (p.Leu537Pro)
n.350T>C
c.*1036T>C (n.*1036T>C)
n.3351T>C
c.1388T>C (p.Leu463Pro)
c.214T>C
c.1127T>C (p.Leu376Pro)
c.1067T>C (p.Leu356Pro)
 ClinVar dbSNP
17g.61784288A>TCA400480937BRIP1c.1103T>A (p.Leu368His)
c.1610T>A (p.Leu537His)
n.350T>A
c.*1036T>A (n.*1036T>A)
n.3351T>A
c.1388T>A (p.Leu463His)
c.214T>A
c.1127T>A (p.Leu376His)
c.1067T>A (p.Leu356His)
 ClinVar dbSNP
17g.61784289G>ACA400480943BRIP1c.1102C>T (p.Leu368Phe)
c.1609C>T (p.Leu537Phe)
n.349C>T
c.*1035C>T (n.*1035C>T)
n.3350C>T
c.1387C>T (p.Leu463Phe)
c.213C>T
c.1126C>T (p.Leu376Phe)
c.1066C>T (p.Leu356Phe)
 dbSNP
17g.61784289G>CCA350079BRIP1c.1102C>G (p.Leu368Val)
c.1609C>G (p.Leu537Val)
n.349C>G
c.*1035C>G (n.*1035C>G)
n.3350C>G
c.1387C>G (p.Leu463Val)
c.213C>G
c.1126C>G (p.Leu376Val)
c.1066C>G (p.Leu356Val)
 ClinVar dbSNP
17g.61784289G=CA2269172004BRIP1c.1102C= (p.Leu368=)
c.1609C= (p.Leu537=)
n.349C=
c.*1035C= (n.*1035C=)
n.3350C=
c.1387C= (p.Leu463=)
c.213C=
c.1126C= (p.Leu376=)
c.1066C= (p.Leu356=)
17g.61784289G>TCA400480946BRIP1c.1102C>A (p.Leu368Ile)
c.1609C>A (p.Leu537Ile)
n.349C>A
c.*1035C>A (n.*1035C>A)
n.3350C>A
c.1387C>A (p.Leu463Ile)
c.213C>A
c.1126C>A (p.Leu376Ile)
c.1066C>A (p.Leu356Ile)
17g.61784290delCA2573154318BRIP1c.1101del (p.Leu368PhefsTer?)
c.1608del (p.Leu537PhefsTer?)
n.348del
c.*1034del (n.*1034del)
n.3349del
c.1386del (p.Leu463PhefsTer?)
c.212del
c.1125del (p.Leu376PhefsTer?)
c.1065del (p.Leu356PhefsTer?)
 ClinVar dbSNP
17g.61784290A=CA2269172005BRIP1c.1101T= (p.Tyr367=)
c.1608T= (p.Tyr536=)
n.348T=
c.*1034T= (n.*1034T=)
n.3349T=
c.1386T= (p.Tyr462=)
c.212T=
c.1125T= (p.Tyr375=)
c.1065T= (p.Tyr355=)
17g.61784290A>CCA400480948BRIP1c.1101T>G (p.Tyr367Ter)
c.1608T>G (p.Tyr536Ter)
n.348T>G
c.*1034T>G (n.*1034T>G)
n.3349T>G
c.1386T>G (p.Tyr462Ter)
c.212T>G
c.1125T>G (p.Tyr375Ter)
c.1065T>G (p.Tyr355Ter)
17g.61784290A>GCA501150686BRIP1c.1101T>C (p.Tyr367=)
c.1608T>C (p.Tyr536=)
n.348T>C
c.*1034T>C (n.*1034T>C)
n.3349T>C
c.1386T>C (p.Tyr462=)
c.212T>C
c.1125T>C (p.Tyr375=)
c.1065T>C (p.Tyr355=)
 ClinVar dbSNP
17g.61784290A>TCA400480951BRIP1c.1101T>A (p.Tyr367Ter)
c.1608T>A (p.Tyr536Ter)
n.348T>A
c.*1034T>A (n.*1034T>A)
n.3349T>A
c.1386T>A (p.Tyr462Ter)
c.212T>A
c.1125T>A (p.Tyr375Ter)
c.1065T>A (p.Tyr355Ter)
17g.61784291_61784292delCA2639156630BRIP1c.1100_1101del (p.Tyr367SerfsTer3)
c.1607_1608del (p.Tyr536SerfsTer3)
n.347_348del
c.*1033_*1034del (n.*1033_*1034del)
n.3348_3349del
c.1385_1386del (p.Tyr462SerfsTer3)
c.211_212del
c.1124_1125del (p.Tyr375SerfsTer3)
c.1064_1065del (p.Tyr355SerfsTer3)
 gnomAD v4
17g.61784291T>ACA400480955BRIP1c.1100A>T (p.Tyr367Phe)
c.1607A>T (p.Tyr536Phe)
n.347A>T
c.*1033A>T (n.*1033A>T)
n.3348A>T
c.1385A>T (p.Tyr462Phe)
c.211A>T
c.1124A>T (p.Tyr375Phe)
c.1064A>T (p.Tyr355Phe)
17g.61784291T>CCA16615491BRIP1c.1100A>G (p.Tyr367Cys)
c.1607A>G (p.Tyr536Cys)
n.347A>G
c.*1033A>G (n.*1033A>G)
n.3348A>G
c.1385A>G (p.Tyr462Cys)
c.211A>G
c.1124A>G (p.Tyr375Cys)
c.1064A>G (p.Tyr355Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.61784291T>GCA400480954BRIP1c.1100A>C (p.Tyr367Ser)
c.1607A>C (p.Tyr536Ser)
n.347A>C
c.*1033A>C (n.*1033A>C)
n.3348A>C
c.1385A>C (p.Tyr462Ser)
c.211A>C
c.1124A>C (p.Tyr375Ser)
c.1064A>C (p.Tyr355Ser)
17g.61784291T=CA2269172006BRIP1c.1100A= (p.Tyr367=)
c.1607A= (p.Tyr536=)
n.347A=
c.*1033A= (n.*1033A=)
n.3348A=
c.1385A= (p.Tyr462=)
c.211A=
c.1124A= (p.Tyr375=)
c.1064A= (p.Tyr355=)
17g.61784292A>CCA400480957BRIP1c.1099T>G (p.Tyr367Asp)
c.1606T>G (p.Tyr536Asp)
n.346T>G
c.*1032T>G (n.*1032T>G)
n.3347T>G
c.1384T>G (p.Tyr462Asp)
c.210T>G
c.1123T>G (p.Tyr375Asp)
c.1063T>G (p.Tyr355Asp)
17g.61784292A>GCA400480959BRIP1c.1099T>C (p.Tyr367His)
c.1606T>C (p.Tyr536His)
n.346T>C
c.*1032T>C (n.*1032T>C)
n.3347T>C
c.1384T>C (p.Tyr462His)
c.210T>C
c.1123T>C (p.Tyr375His)
c.1063T>C (p.Tyr355His)
 dbSNP
17g.61784292A>TCA400480961BRIP1c.1099T>A (p.Tyr367Asn)
c.1606T>A (p.Tyr536Asn)
n.346T>A
c.*1032T>A (n.*1032T>A)
n.3347T>A
c.1384T>A (p.Tyr462Asn)
c.210T>A
c.1123T>A (p.Tyr375Asn)
c.1063T>A (p.Tyr355Asn)
 dbSNP
17g.61784292_61784296delinsGCA2582342285BRIP1c.1095_1099delinsC (p.Asp366IlefsTer?)
c.1602_1606delinsC (p.Asp535IlefsTer?)
n.342_346delinsC
c.*1028_*1032delinsC (n.*1028_*1032delinsC)
n.3343_3347delinsC
c.1380_1384delinsC (p.Asp461IlefsTer?)
c.206_210delinsC
c.1119_1123delinsC (p.Asp374IlefsTer?)
c.1059_1063delinsC (p.Asp354IlefsTer?)
 ClinVar
17g.61784293_61784296delCA2573154319BRIP1c.1096_1099del (p.Asp366IlefsTer?)
c.1603_1606del (p.Asp535IlefsTer?)
n.343_346del
c.*1029_*1032del (n.*1029_*1032del)
n.3344_3347del
c.1381_1384del (p.Asp461IlefsTer?)
c.207_210del
c.1120_1123del (p.Asp374IlefsTer?)
c.1060_1063del (p.Asp354IlefsTer?)
 ClinVar dbSNP
17g.61784293G>ACA501150687BRIP1c.1098C>T (p.Asp366=)
c.1605C>T (p.Asp535=)
n.345C>T
c.*1031C>T (n.*1031C>T)
n.3346C>T
c.1383C>T (p.Asp461=)
c.209C>T
c.1122C>T (p.Asp374=)
c.1062C>T (p.Asp354=)
 ClinVar dbSNP
17g.61784293G>CCA292283045BRIP1c.1098C>G (p.Asp366Glu)
c.1605C>G (p.Asp535Glu)
n.345C>G
c.*1031C>G (n.*1031C>G)
n.3346C>G
c.1383C>G (p.Asp461Glu)
c.209C>G
c.1122C>G (p.Asp374Glu)
c.1062C>G (p.Asp354Glu)
 dbSNP
17g.61784293G=CA2269172007BRIP1c.1098C= (p.Asp366=)
c.1605C= (p.Asp535=)
n.345C=
c.*1031C= (n.*1031C=)
n.3346C=
c.1383C= (p.Asp461=)
c.209C=
c.1122C= (p.Asp374=)
c.1062C= (p.Asp354=)
17g.61784293G>TCA400480964BRIP1c.1098C>A (p.Asp366Glu)
c.1605C>A (p.Asp535Glu)
n.345C>A
c.*1031C>A (n.*1031C>A)
n.3346C>A
c.1383C>A (p.Asp461Glu)
c.209C>A
c.1122C>A (p.Asp374Glu)
c.1062C>A (p.Asp354Glu)
17g.61784294T>ACA400480966BRIP1c.1097A>T (p.Asp366Val)
c.1604A>T (p.Asp535Val)
n.344A>T
c.*1030A>T (n.*1030A>T)
n.3345A>T
c.1382A>T (p.Asp461Val)
c.208A>T
c.1121A>T (p.Asp374Val)
c.1061A>T (p.Asp354Val)
 dbSNP
17g.61784294T>CCA400480970BRIP1c.1097A>G (p.Asp366Gly)
c.1604A>G (p.Asp535Gly)
n.344A>G
c.*1030A>G (n.*1030A>G)
n.3345A>G
c.1382A>G (p.Asp461Gly)
c.208A>G
c.1121A>G (p.Asp374Gly)
c.1061A>G (p.Asp354Gly)
17g.61784294T>GCA400480968BRIP1c.1097A>C (p.Asp366Ala)
c.1604A>C (p.Asp535Ala)
n.344A>C
c.*1030A>C (n.*1030A>C)
n.3345A>C
c.1382A>C (p.Asp461Ala)
c.208A>C
c.1121A>C (p.Asp374Ala)
c.1061A>C (p.Asp354Ala)
17g.61784295C>ACA400480973BRIP1c.1096G>T (p.Asp366Tyr)
c.1603G>T (p.Asp535Tyr)
n.343G>T
c.*1029G>T (n.*1029G>T)
n.3344G>T
c.1381G>T (p.Asp461Tyr)
c.207G>T
c.1120G>T (p.Asp374Tyr)
c.1060G>T (p.Asp354Tyr)
17g.61784295C>GCA400480977BRIP1c.1096G>C (p.Asp366His)
c.1603G>C (p.Asp535His)
n.343G>C
c.*1029G>C (n.*1029G>C)
n.3344G>C
c.1381G>C (p.Asp461His)
c.207G>C
c.1120G>C (p.Asp374His)
c.1060G>C (p.Asp354His)
 ClinVar dbSNP
17g.61784295C>TCA400480975BRIP1c.1096G>A (p.Asp366Asn)
c.1603G>A (p.Asp535Asn)
n.343G>A
c.*1029G>A (n.*1029G>A)
n.3344G>A
c.1381G>A (p.Asp461Asn)
c.207G>A
c.1120G>A (p.Asp374Asn)
c.1060G>A (p.Asp354Asn)
 dbSNP
17g.61784296A=CA2269172008BRIP1c.1095T= (p.Leu365=)
c.1602T= (p.Leu534=)
n.342T=
c.*1028T= (n.*1028T=)
n.3343T=
c.1380T= (p.Leu460=)
c.206T=
c.1119T= (p.Leu373=)
c.1059T= (p.Leu353=)
17g.61784296A>CCA501150688BRIP1c.1095T>G (p.Leu365=)
c.1602T>G (p.Leu534=)
n.342T>G
c.*1028T>G (n.*1028T>G)
n.3343T>G
c.1380T>G (p.Leu460=)
c.206T>G
c.1119T>G (p.Leu373=)
c.1059T>G (p.Leu353=)
17g.61784296A>GCA292283047BRIP1c.1095T>C (p.Leu365=)
c.1602T>C (p.Leu534=)
n.342T>C
c.*1028T>C (n.*1028T>C)
n.3343T>C
c.1380T>C (p.Leu460=)
c.206T>C
c.1119T>C (p.Leu373=)
c.1059T>C (p.Leu353=)
 ClinVar dbSNP
17g.61784296A>TCA501150689BRIP1c.1095T>A (p.Leu365=)
c.1602T>A (p.Leu534=)
n.342T>A
c.*1028T>A (n.*1028T>A)
n.3343T>A
c.1380T>A (p.Leu460=)
c.206T>A
c.1119T>A (p.Leu373=)
c.1059T>A (p.Leu353=)
 dbSNP
17g.61784297A=CA2269172009BRIP1c.1094T= (p.Leu365=)
c.1601T= (p.Leu534=)
n.341T=
c.*1027T= (n.*1027T=)
n.3342T=
c.1379T= (p.Leu460=)
c.205T=
c.1118T= (p.Leu373=)
c.1058T= (p.Leu353=)
17g.61784297A>CCA400480979BRIP1c.1094T>G (p.Leu365Arg)
c.1601T>G (p.Leu534Arg)
n.341T>G
c.*1027T>G (n.*1027T>G)
n.3342T>G
c.1379T>G (p.Leu460Arg)
c.205T>G
c.1118T>G (p.Leu373Arg)
c.1058T>G (p.Leu353Arg)
17g.61784297A>GCA400480981BRIP1c.1094T>C (p.Leu365Pro)
c.1601T>C (p.Leu534Pro)
n.341T>C
c.*1027T>C (n.*1027T>C)
n.3342T>C
c.1379T>C (p.Leu460Pro)
c.205T>C
c.1118T>C (p.Leu373Pro)
c.1058T>C (p.Leu353Pro)
 ClinVar dbSNP
17g.61784297A>TCA400480983BRIP1c.1094T>A (p.Leu365His)
c.1601T>A (p.Leu534His)
n.341T>A
c.*1027T>A (n.*1027T>A)
n.3342T>A
c.1379T>A (p.Leu460His)
c.205T>A
c.1118T>A (p.Leu373His)
c.1058T>A (p.Leu353His)
 dbSNP
17g.61784298G>ACA400480984BRIP1c.1093C>T (p.Leu365Phe)
c.1600C>T (p.Leu534Phe)
n.340C>T
c.*1026C>T (n.*1026C>T)
n.3341C>T
c.1378C>T (p.Leu460Phe)
c.204C>T
c.1117C>T (p.Leu373Phe)
c.1057C>T (p.Leu353Phe)
 ClinVar
17g.61784298G>CCA400480986BRIP1c.1093C>G (p.Leu365Val)
c.1600C>G (p.Leu534Val)
n.340C>G
c.*1026C>G (n.*1026C>G)
n.3341C>G
c.1378C>G (p.Leu460Val)
c.204C>G
c.1117C>G (p.Leu373Val)
c.1057C>G (p.Leu353Val)
 dbSNP
17g.61784298G>TCA400480988BRIP1c.1093C>A (p.Leu365Ile)
c.1600C>A (p.Leu534Ile)
n.340C>A
c.*1026C>A (n.*1026C>A)
n.3341C>A
c.1378C>A (p.Leu460Ile)
c.204C>A
c.1117C>A (p.Leu373Ile)
c.1057C>A (p.Leu353Ile)
17g.61784299T>ACA501150690BRIP1c.1092A>T (p.Val364=)
c.1599A>T (p.Val533=)
n.339A>T
c.*1025A>T (n.*1025A>T)
n.3340A>T
c.1377A>T (p.Val459=)
c.203A>T
c.1116A>T (p.Val372=)
c.1056A>T (p.Val352=)
 dbSNP gnomAD v4
17g.61784299T>CCA501150691BRIP1c.1092A>G (p.Val364=)
c.1599A>G (p.Val533=)
n.339A>G
c.*1025A>G (n.*1025A>G)
n.3340A>G
c.1377A>G (p.Val459=)
c.203A>G
c.1116A>G (p.Val372=)
c.1056A>G (p.Val352=)
17g.61784299T>GCA501150692BRIP1c.1092A>C (p.Val364=)
c.1599A>C (p.Val533=)
n.339A>C
c.*1025A>C (n.*1025A>C)
n.3340A>C
c.1377A>C (p.Val459=)
c.203A>C
c.1116A>C (p.Val372=)
c.1056A>C (p.Val352=)
 dbSNP
17g.61784299_61784300dupCA2582342286BRIP1c.1091_1092dup (p.Leu365TyrfsTer?)
c.1598_1599dup (p.Leu534TyrfsTer?)
n.338_339dup
c.*1024_*1025dup (n.*1024_*1025dup)
n.3339_3340dup
c.1376_1377dup (p.Leu460TyrfsTer?)
c.202_203dup
c.1115_1116dup (p.Leu373TyrfsTer?)
c.1055_1056dup (p.Leu353TyrfsTer?)
 ClinVar
17g.61784300A=CA2269172010BRIP1c.1091T= (p.Val364=)
c.1598T= (p.Val533=)
n.338T=
c.*1024T= (n.*1024T=)
n.3339T=
c.1376T= (p.Val459=)
c.202T=
c.1115T= (p.Val372=)
c.1055T= (p.Val352=)
17g.61784300A>CCA400480990BRIP1c.1091T>G (p.Val364Gly)
c.1598T>G (p.Val533Gly)
n.338T>G
c.*1024T>G (n.*1024T>G)
n.3339T>G
c.1376T>G (p.Val459Gly)
c.202T>G
c.1115T>G (p.Val372Gly)
c.1055T>G (p.Val352Gly)
17g.61784300A>GCA400480992BRIP1c.1091T>C (p.Val364Ala)
c.1598T>C (p.Val533Ala)
n.338T>C
c.*1024T>C (n.*1024T>C)
n.3339T>C
c.1376T>C (p.Val459Ala)
c.202T>C
c.1115T>C (p.Val372Ala)
c.1055T>C (p.Val352Ala)
 ClinVar dbSNP
17g.61784300A>TCA400480994BRIP1c.1091T>A (p.Val364Glu)
c.1598T>A (p.Val533Glu)
n.338T>A
c.*1024T>A (n.*1024T>A)
n.3339T>A
c.1376T>A (p.Val459Glu)
c.202T>A
c.1115T>A (p.Val372Glu)
c.1055T>A (p.Val352Glu)
17g.61784301_61784307delCA2582342287BRIP1c.1085_1091del (p.Phe362TyrfsTer?)
c.1592_1598del (p.Phe531TyrfsTer?)
n.332_338del
c.*1018_*1024del (n.*1018_*1024del)
n.3333_3339del
c.1370_1376del (p.Phe457TyrfsTer?)
c.196_202del
c.1109_1115del (p.Phe370TyrfsTer?)
c.1049_1055del (p.Phe350TyrfsTer?)
 ClinVar
17g.61784301C>ACA400480996BRIP1c.1090G>T (p.Val364Leu)
c.1597G>T (p.Val533Leu)
n.337G>T
c.*1023G>T (n.*1023G>T)
n.3338G>T
c.1375G>T (p.Val459Leu)
c.201G>T
c.1114G>T (p.Val372Leu)
c.1054G>T (p.Val352Leu)
 dbSNP
17g.61784301C>GCA400480997BRIP1c.1090G>C (p.Val364Leu)
c.1597G>C (p.Val533Leu)
n.337G>C
c.*1023G>C (n.*1023G>C)
n.3338G>C
c.1375G>C (p.Val459Leu)
c.201G>C
c.1114G>C (p.Val372Leu)
c.1054G>C (p.Val352Leu)
 dbSNP
17g.61784301C>TCA400480999BRIP1c.1090G>A (p.Val364Ile)
c.1597G>A (p.Val533Ile)
n.337G>A
c.*1023G>A (n.*1023G>A)
n.3338G>A
c.1375G>A (p.Val459Ile)
c.201G>A
c.1114G>A (p.Val372Ile)
c.1054G>A (p.Val352Ile)
 dbSNP
17g.61784302C>ACA400481005BRIP1c.1089G>T (p.Met363Ile)
c.1596G>T (p.Met532Ile)
n.336G>T
c.*1022G>T (n.*1022G>T)
n.3337G>T
c.1374G>T (p.Met458Ile)
c.200G>T
c.1113G>T (p.Met371Ile)
c.1053G>T (p.Met351Ile)
17g.61784302C>GCA400481001BRIP1c.1089G>C (p.Met363Ile)
c.1596G>C (p.Met532Ile)
n.336G>C
c.*1022G>C (n.*1022G>C)
n.3337G>C
c.1374G>C (p.Met458Ile)
c.200G>C
c.1113G>C (p.Met371Ile)
c.1053G>C (p.Met351Ile)
 dbSNP
17g.61784302C>TCA400481004BRIP1c.1089G>A (p.Met363Ile)
c.1596G>A (p.Met532Ile)
n.336G>A
c.*1022G>A (n.*1022G>A)
n.3337G>A
c.1374G>A (p.Met458Ile)
c.200G>A
c.1113G>A (p.Met371Ile)
c.1053G>A (p.Met351Ile)
 ClinVar dbSNP
17g.61784303A=CA2269172011BRIP1c.1088T= (p.Met363=)
c.1595T= (p.Met532=)
n.335T=
c.*1021T= (n.*1021T=)
n.3336T=
c.1373T= (p.Met458=)
c.199T=
c.1112T= (p.Met371=)
c.1052T= (p.Met351=)
17g.61784303A>CCA400481008BRIP1c.1088T>G (p.Met363Arg)
c.1595T>G (p.Met532Arg)
n.335T>G
c.*1021T>G (n.*1021T>G)
n.3336T>G
c.1373T>G (p.Met458Arg)
c.199T>G
c.1112T>G (p.Met371Arg)
c.1052T>G (p.Met351Arg)
17g.61784303A>GCA400481010BRIP1c.1088T>C (p.Met363Thr)
c.1595T>C (p.Met532Thr)
n.335T>C
c.*1021T>C (n.*1021T>C)
n.3336T>C
c.1373T>C (p.Met458Thr)
c.199T>C
c.1112T>C (p.Met371Thr)
c.1052T>C (p.Met351Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.61784303A>TCA400481012BRIP1c.1088T>A (p.Met363Lys)
c.1595T>A (p.Met532Lys)
n.335T>A
c.*1021T>A (n.*1021T>A)
n.3336T>A
c.1373T>A (p.Met458Lys)
c.199T>A
c.1112T>A (p.Met371Lys)
c.1052T>A (p.Met351Lys)
 dbSNP
17g.61784304delCA2582342288BRIP1c.1087del (p.Met363TrpfsTer?)
c.1594del (p.Met532TrpfsTer?)
n.334del
c.*1020del (n.*1020del)
n.3335del
c.1372del (p.Met458TrpfsTer?)
c.198del
c.1111del (p.Met371TrpfsTer?)
c.1051del (p.Met351TrpfsTer?)
 ClinVar
17g.61784304T>ACA400481014BRIP1c.1087A>T (p.Met363Leu)
c.1594A>T (p.Met532Leu)
n.334A>T
c.*1020A>T (n.*1020A>T)
n.3335A>T
c.1372A>T (p.Met458Leu)
c.198A>T
c.1111A>T (p.Met371Leu)
c.1051A>T (p.Met351Leu)
 ClinVar
17g.61784304T>CCA10580835BRIP1c.1087A>G (p.Met363Val)
c.1594A>G (p.Met532Val)
n.334A>G
c.*1020A>G (n.*1020A>G)
n.3335A>G
c.1372A>G (p.Met458Val)
c.198A>G
c.1111A>G (p.Met371Val)
c.1051A>G (p.Met351Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.61784304T>GCA400481017BRIP1c.1087A>C (p.Met363Leu)
c.1594A>C (p.Met532Leu)
n.334A>C
c.*1020A>C (n.*1020A>C)
n.3335A>C
c.1372A>C (p.Met458Leu)
c.198A>C
c.1111A>C (p.Met371Leu)
c.1051A>C (p.Met351Leu)
17g.61784304T=CA2269172012BRIP1c.1087A= (p.Met363=)
c.1594A= (p.Met532=)
n.334A=
c.*1020A= (n.*1020A=)
n.3335A=
c.1372A= (p.Met458=)
c.198A=
c.1111A= (p.Met371=)
c.1051A= (p.Met351=)
17g.61784304dupCA626806702BRIP1c.1087dup (p.Met363AsnfsTer4)
c.1594dup (p.Met532AsnfsTer4)
n.334dup
c.*1020dup (n.*1020dup)
n.3335dup
c.1372dup (p.Met458AsnfsTer4)
c.198dup
c.1111dup (p.Met371AsnfsTer4)
c.1051dup (p.Met351AsnfsTer4)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.61784305A=CA2269172013BRIP1c.1086T= (p.Phe362=)
c.1593T= (p.Phe531=)
n.333T=
c.*1019T= (n.*1019T=)
n.3334T=
c.1371T= (p.Phe457=)
c.197T=
c.1110T= (p.Phe370=)
c.1050T= (p.Phe350=)
17g.61784305A>CCA400481019BRIP1c.1086T>G (p.Phe362Leu)
c.1593T>G (p.Phe531Leu)
n.333T>G
c.*1019T>G (n.*1019T>G)
n.3334T>G
c.1371T>G (p.Phe457Leu)
c.197T>G
c.1110T>G (p.Phe370Leu)
c.1050T>G (p.Phe350Leu)
17g.61784305A>GCA501150693BRIP1c.1086T>C (p.Phe362=)
c.1593T>C (p.Phe531=)
n.333T>C
c.*1019T>C (n.*1019T>C)
n.3334T>C
c.1371T>C (p.Phe457=)
c.197T>C
c.1110T>C (p.Phe370=)
c.1050T>C (p.Phe350=)
 ClinVar dbSNP gnomAD v4
17g.61784305A>TCA400481020BRIP1c.1086T>A (p.Phe362Leu)
c.1593T>A (p.Phe531Leu)
n.333T>A
c.*1019T>A (n.*1019T>A)
n.3334T>A
c.1371T>A (p.Phe457Leu)
c.197T>A
c.1110T>A (p.Phe370Leu)
c.1050T>A (p.Phe350Leu)
17g.61784309dupCA2695200311BRIP1c.1086dup (p.Met363TyrfsTer4)
c.1593dup (p.Met532TyrfsTer4)
n.333dup
c.*1019dup (n.*1019dup)
n.3334dup
c.1371dup (p.Met458TyrfsTer4)
c.197dup
c.1110dup (p.Met371TyrfsTer4)
c.1050dup (p.Met351TyrfsTer4)
 ClinVar
17g.61784306A=CA2269172014BRIP1c.1085T= (p.Phe362=)
c.1592T= (p.Phe531=)
n.332T=
c.*1018T= (n.*1018T=)
n.3333T=
c.1370T= (p.Phe457=)
c.196T=
c.1109T= (p.Phe370=)
c.1049T= (p.Phe350=)
17g.61784306A>CCA400481022BRIP1c.1085T>G (p.Phe362Cys)
c.1592T>G (p.Phe531Cys)
n.332T>G
c.*1018T>G (n.*1018T>G)
n.3333T>G
c.1370T>G (p.Phe457Cys)
c.196T>G
c.1109T>G (p.Phe370Cys)
c.1049T>G (p.Phe350Cys)
17g.61784306A>GCA10583632BRIP1c.1085T>C (p.Phe362Ser)
c.1592T>C (p.Phe531Ser)
n.332T>C
c.*1018T>C (n.*1018T>C)
n.3333T>C
c.1370T>C (p.Phe457Ser)
c.196T>C
c.1109T>C (p.Phe370Ser)
c.1049T>C (p.Phe350Ser)
 ClinVar dbSNP
17g.61784306A>TCA400481024BRIP1c.1085T>A (p.Phe362Tyr)
c.1592T>A (p.Phe531Tyr)
n.332T>A
c.*1018T>A (n.*1018T>A)
n.3333T>A
c.1370T>A (p.Phe457Tyr)
c.196T>A
c.1109T>A (p.Phe370Tyr)
c.1049T>A (p.Phe350Tyr)
 dbSNP
17g.61784307A=CA2269172015BRIP1c.1084T= (p.Phe362=)
c.1591T= (p.Phe531=)
n.331T=
c.*1017T= (n.*1017T=)
n.3332T=
c.1369T= (p.Phe457=)
c.195T=
c.1108T= (p.Phe370=)
c.1048T= (p.Phe350=)
17g.61784307A>CCA350456BRIP1c.1084T>G (p.Phe362Val)
c.1591T>G (p.Phe531Val)
n.331T>G
c.*1017T>G (n.*1017T>G)
n.3332T>G
c.1369T>G (p.Phe457Val)
c.195T>G
c.1108T>G (p.Phe370Val)
c.1048T>G (p.Phe350Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.61784307A>GCA400481028BRIP1c.1084T>C (p.Phe362Leu)
c.1591T>C (p.Phe531Leu)
n.331T>C
c.*1017T>C (n.*1017T>C)
n.3332T>C
c.1369T>C (p.Phe457Leu)
c.195T>C
c.1108T>C (p.Phe370Leu)
c.1048T>C (p.Phe350Leu)
17g.61784307A>TCA400481026BRIP1c.1084T>A (p.Phe362Ile)
c.1591T>A (p.Phe531Ile)
n.331T>A
c.*1017T>A (n.*1017T>A)
n.3332T>A
c.1369T>A (p.Phe457Ile)
c.195T>A
c.1108T>A (p.Phe370Ile)
c.1048T>A (p.Phe350Ile)
17g.61784308A=CA2269172016BRIP1c.1083T= (p.Leu361=)
c.1590T= (p.Leu530=)
n.330T=
c.*1016T= (n.*1016T=)
n.3331T=
c.1368T= (p.Leu456=)
c.194T=
c.1107T= (p.Leu369=)
c.1047T= (p.Leu349=)
17g.61784308A>CCA10580836BRIP1c.1083T>G (p.Leu361=)
c.1590T>G (p.Leu530=)
n.330T>G
c.*1016T>G (n.*1016T>G)
n.3331T>G
c.1368T>G (p.Leu456=)
c.194T>G
c.1107T>G (p.Leu369=)
c.1047T>G (p.Leu349=)
 ClinVar dbSNP
17g.61784308A>GCA501150695BRIP1c.1083T>C (p.Leu361=)
c.1590T>C (p.Leu530=)
n.330T>C
c.*1016T>C (n.*1016T>C)
n.3331T>C
c.1368T>C (p.Leu456=)
c.194T>C
c.1107T>C (p.Leu369=)
c.1047T>C (p.Leu349=)
17g.61784308A>TCA501150694BRIP1c.1083T>A (p.Leu361=)
c.1590T>A (p.Leu530=)
n.330T>A
c.*1016T>A (n.*1016T>A)
n.3331T>A
c.1368T>A (p.Leu456=)
c.194T>A
c.1107T>A (p.Leu369=)
c.1047T>A (p.Leu349=)
 dbSNP
17g.61784309A=CA2269172017BRIP1c.1082T= (p.Leu361=)
c.1589T= (p.Leu530=)
n.329T=
c.*1015T= (n.*1015T=)
n.3330T=
c.1367T= (p.Leu456=)
c.193T=
c.1106T= (p.Leu369=)
c.1046T= (p.Leu349=)
17g.61784309A>CCA400481032BRIP1c.1082T>G (p.Leu361Arg)
c.1589T>G (p.Leu530Arg)
n.329T>G
c.*1015T>G (n.*1015T>G)
n.3330T>G
c.1367T>G (p.Leu456Arg)
c.193T>G
c.1106T>G (p.Leu369Arg)
c.1046T>G (p.Leu349Arg)
17g.61784309A>GCA400481034BRIP1c.1082T>C (p.Leu361Pro)
c.1589T>C (p.Leu530Pro)
n.329T>C
c.*1015T>C (n.*1015T>C)
n.3330T>C
c.1367T>C (p.Leu456Pro)
c.193T>C
c.1106T>C (p.Leu369Pro)
c.1046T>C (p.Leu349Pro)
 ClinVar dbSNP gnomAD v4
17g.61784309A>TCA400481036BRIP1c.1082T>A (p.Leu361His)
c.1589T>A (p.Leu530His)
n.329T>A
c.*1015T>A (n.*1015T>A)
n.3330T>A
c.1367T>A (p.Leu456His)
c.193T>A
c.1106T>A (p.Leu369His)
c.1046T>A (p.Leu349His)
 dbSNP
17g.61784310G>ACA400481038BRIP1c.1081C>T (p.Leu361Phe)
c.1588C>T (p.Leu530Phe)
n.328C>T
c.*1014C>T (n.*1014C>T)
n.3329C>T
c.1366C>T (p.Leu456Phe)
c.192C>T
c.1105C>T (p.Leu369Phe)
c.1045C>T (p.Leu349Phe)
 ClinVar dbSNP
17g.61784310G>CCA400481041BRIP1c.1081C>G (p.Leu361Val)
c.1588C>G (p.Leu530Val)
n.328C>G
c.*1014C>G (n.*1014C>G)
n.3329C>G
c.1366C>G (p.Leu456Val)
c.192C>G
c.1105C>G (p.Leu369Val)
c.1045C>G (p.Leu349Val)
 dbSNP gnomAD v2
17g.61784310G=CA2269172018BRIP1c.1081C= (p.Leu361=)
c.1588C= (p.Leu530=)
n.328C=
c.*1014C= (n.*1014C=)
n.3329C=
c.1366C= (p.Leu456=)
c.192C=
c.1105C= (p.Leu369=)
c.1045C= (p.Leu349=)
17g.61784310G>TCA400481042BRIP1c.1081C>A (p.Leu361Ile)
c.1588C>A (p.Leu530Ile)
n.328C>A
c.*1014C>A (n.*1014C>A)
n.3329C>A
c.1366C>A (p.Leu456Ile)
c.192C>A
c.1105C>A (p.Leu369Ile)
c.1045C>A (p.Leu349Ile)
17g.61784311T>ACA501150698BRIP1c.1080A>T (p.Gly360=)
c.1587A>T (p.Gly529=)
n.327A>T
c.*1013A>T (n.*1013A>T)
n.3328A>T
c.1365A>T (p.Gly455=)
c.191A>T
c.1104A>T (p.Gly368=)
c.1044A>T (p.Gly348=)
 ClinVar dbSNP
17g.61784311T>CCA501150697BRIP1c.1080A>G (p.Gly360=)
c.1587A>G (p.Gly529=)
n.327A>G
c.*1013A>G (n.*1013A>G)
n.3328A>G
c.1365A>G (p.Gly455=)
c.191A>G
c.1104A>G (p.Gly368=)
c.1044A>G (p.Gly348=)
 ClinVar
17g.61784311T>GCA501150696BRIP1c.1080A>C (p.Gly360=)
c.1587A>C (p.Gly529=)
n.327A>C
c.*1013A>C (n.*1013A>C)
n.3328A>C
c.1365A>C (p.Gly455=)
c.191A>C
c.1104A>C (p.Gly368=)
c.1044A>C (p.Gly348=)
17g.61784312C>ACA400481044BRIP1c.1079G>T (p.Gly360Val)
c.1586G>T (p.Gly529Val)
n.326G>T
c.*1012G>T (n.*1012G>T)
n.3327G>T
c.1364G>T (p.Gly455Val)
c.190G>T
c.1103G>T (p.Gly368Val)
c.1043G>T (p.Gly348Val)
 ClinVar dbSNP
17g.61784312C=CA2269172019BRIP1c.1079G= (p.Gly360=)
c.1586G= (p.Gly529=)
n.326G=
c.*1012G= (n.*1012G=)
n.3327G=
c.1364G= (p.Gly455=)
c.190G=
c.1103G= (p.Gly368=)
c.1043G= (p.Gly348=)
17g.61784312C>GCA400481046BRIP1c.1079G>C (p.Gly360Ala)
c.1586G>C (p.Gly529Ala)
n.326G>C
c.*1012G>C (n.*1012G>C)
n.3327G>C
c.1364G>C (p.Gly455Ala)
c.190G>C
c.1103G>C (p.Gly368Ala)
c.1043G>C (p.Gly348Ala)
 dbSNP
17g.61784312C>TCA157676BRIP1c.1079G>A (p.Gly360Glu)
c.1586G>A (p.Gly529Glu)
n.326G>A
c.*1012G>A (n.*1012G>A)
n.3327G>A
c.1364G>A (p.Gly455Glu)
c.190G>A
c.1103G>A (p.Gly368Glu)
c.1043G>A (p.Gly348Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.61784313C>ACA400481048BRIP1c.1078G>T (p.Gly360Ter)
c.1585G>T (p.Gly529Ter)
n.325G>T
c.*1011G>T (n.*1011G>T)
n.3326G>T
c.1363G>T (p.Gly455Ter)
c.189G>T
c.1102G>T (p.Gly368Ter)
c.1042G>T (p.Gly348Ter)
 ClinVar gnomAD v4
17g.61784313C=CA2269172020BRIP1c.1078G= (p.Gly360=)
c.1585G= (p.Gly529=)
n.325G=
c.*1011G= (n.*1011G=)
n.3326G=
c.1363G= (p.Gly455=)
c.189G=
c.1102G= (p.Gly368=)
c.1042G= (p.Gly348=)
17g.61784313C>GCA10580837BRIP1c.1078G>C (p.Gly360Arg)
c.1585G>C (p.Gly529Arg)
n.325G>C
c.*1011G>C (n.*1011G>C)
n.3326G>C
c.1363G>C (p.Gly455Arg)
c.189G>C
c.1102G>C (p.Gly368Arg)
c.1042G>C (p.Gly348Arg)
 ClinVar dbSNP gnomAD v4
17g.61784313C>TCA400481050BRIP1c.1078G>A (p.Gly360Arg)
c.1585G>A (p.Gly529Arg)
n.325G>A
c.*1011G>A (n.*1011G>A)
n.3326G>A
c.1363G>A (p.Gly455Arg)
c.189G>A
c.1102G>A (p.Gly368Arg)
c.1042G>A (p.Gly348Arg)
17g.61784314T>ACA400481054BRIP1c.1077A>T (p.Lys359Asn)
c.1584A>T (p.Lys528Asn)
n.324A>T
c.*1010A>T (n.*1010A>T)
n.3325A>T
c.1362A>T (p.Lys454Asn)
c.188A>T
c.1101A>T (p.Lys367Asn)
c.1041A>T (p.Lys347Asn)
17g.61784314T>CCA501150699BRIP1c.1077A>G (p.Lys359=)
c.1584A>G (p.Lys528=)
n.324A>G
c.*1010A>G (n.*1010A>G)
n.3325A>G
c.1362A>G (p.Lys454=)
c.188A>G
c.1101A>G (p.Lys367=)
c.1041A>G (p.Lys347=)
17g.61784314T>GCA400481052BRIP1c.1077A>C (p.Lys359Asn)
c.1584A>C (p.Lys528Asn)
n.324A>C
c.*1010A>C (n.*1010A>C)
n.3325A>C
c.1362A>C (p.Lys454Asn)
c.188A>C
c.1101A>C (p.Lys367Asn)
c.1041A>C (p.Lys347Asn)
17g.61784314_61784316delinsCCA2582342289BRIP1c.1075_1077delinsG (p.Lys359GlyfsTer7)
c.1582_1584delinsG (p.Lys528GlyfsTer7)
n.322_324delinsG
c.*1008_*1010delinsG (n.*1008_*1010delinsG)
n.3323_3325delinsG
c.1360_1362delinsG (p.Lys454GlyfsTer7)
c.186_188delinsG
c.1099_1101delinsG (p.Lys367GlyfsTer7)
c.1039_1041delinsG (p.Lys347GlyfsTer7)
 ClinVar
17g.61784316delCA2639156656BRIP1c.1077del (p.Gly360AspfsTer?)
c.1584del (p.Gly529AspfsTer?)
n.324del
c.*1010del (n.*1010del)
n.3325del
c.1362del (p.Gly455AspfsTer?)
c.188del
c.1101del (p.Gly368AspfsTer?)
c.1041del (p.Gly348AspfsTer?)
 ClinVar gnomAD v4
17g.61784315T>ACA400481056BRIP1c.1076A>T (p.Lys359Ile)
c.1583A>T (p.Lys528Ile)
n.323A>T
c.*1009A>T (n.*1009A>T)
n.3324A>T
c.1361A>T (p.Lys454Ile)
c.187A>T
c.1100A>T (p.Lys367Ile)
c.1040A>T (p.Lys347Ile)
 dbSNP
17g.61784315T>CCA400481058BRIP1c.1076A>G (p.Lys359Arg)
c.1583A>G (p.Lys528Arg)
n.323A>G
c.*1009A>G (n.*1009A>G)
n.3324A>G
c.1361A>G (p.Lys454Arg)
c.187A>G
c.1100A>G (p.Lys367Arg)
c.1040A>G (p.Lys347Arg)
 ClinVar dbSNP
17g.61784315T>GCA400481060BRIP1c.1076A>C (p.Lys359Thr)
c.1583A>C (p.Lys528Thr)
n.323A>C
c.*1009A>C (n.*1009A>C)
n.3324A>C
c.1361A>C (p.Lys454Thr)
c.187A>C
c.1100A>C (p.Lys367Thr)
c.1040A>C (p.Lys347Thr)
17g.61784316T>ACA292283055BRIP1c.1075A>T (p.Lys359Ter)
c.1582A>T (p.Lys528Ter)
n.322A>T
c.*1008A>T (n.*1008A>T)
n.3323A>T
c.1360A>T (p.Lys454Ter)
c.186A>T
c.1099A>T (p.Lys367Ter)
c.1039A>T (p.Lys347Ter)
 ClinVar dbSNP
17g.61784316T>CCA8690713BRIP1c.1075A>G (p.Lys359Glu)
c.1582A>G (p.Lys528Glu)
n.322A>G
c.*1008A>G (n.*1008A>G)
n.3323A>G
c.1360A>G (p.Lys454Glu)
c.186A>G
c.1099A>G (p.Lys367Glu)
c.1039A>G (p.Lys347Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.61784316T>GCA400481064BRIP1c.1075A>C (p.Lys359Gln)
c.1582A>C (p.Lys528Gln)
n.322A>C
c.*1008A>C (n.*1008A>C)
n.3323A>C
c.1360A>C (p.Lys454Gln)
c.186A>C
c.1099A>C (p.Lys367Gln)
c.1039A>C (p.Lys347Gln)
17g.61784316T=CA2269172021BRIP1c.1075A= (p.Lys359=)
c.1582A= (p.Lys528=)
n.322A=
c.*1008A= (n.*1008A=)
n.3323A=
c.1360A= (p.Lys454=)
c.186A=
c.1099A= (p.Lys367=)
c.1039A= (p.Lys347=)
17g.61784317A>CCA501150700BRIP1c.1074T>G (p.Leu358=)
c.1581T>G (p.Leu527=)
n.321T>G
c.*1007T>G (n.*1007T>G)
n.3322T>G
c.1359T>G (p.Leu453=)
c.185T>G
c.1098T>G (p.Leu366=)
c.1038T>G (p.Leu346=)
 ClinVar dbSNP
17g.61784317A>GCA501150701BRIP1c.1074T>C (p.Leu358=)
c.1581T>C (p.Leu527=)
n.321T>C
c.*1007T>C (n.*1007T>C)
n.3322T>C
c.1359T>C (p.Leu453=)
c.185T>C
c.1098T>C (p.Leu366=)
c.1038T>C (p.Leu346=)
17g.61784317A>TCA501150702BRIP1c.1074T>A (p.Leu358=)
c.1581T>A (p.Leu527=)
n.321T>A
c.*1007T>A (n.*1007T>A)
n.3322T>A
c.1359T>A (p.Leu453=)
c.185T>A
c.1098T>A (p.Leu366=)
c.1038T>A (p.Leu346=)
 dbSNP
17g.61784318A=CA2269172022BRIP1c.1073T= (p.Leu358=)
c.1580T= (p.Leu527=)
n.320T=
c.*1006T= (n.*1006T=)
n.3321T=
c.1358T= (p.Leu453=)
c.184T=
c.1097T= (p.Leu366=)
c.1037T= (p.Leu346=)
17g.61784318A>CCA400481066BRIP1c.1073T>G (p.Leu358Arg)
c.1580T>G (p.Leu527Arg)
n.320T>G
c.*1006T>G (n.*1006T>G)
n.3321T>G
c.1358T>G (p.Leu453Arg)
c.184T>G
c.1097T>G (p.Leu366Arg)
c.1037T>G (p.Leu346Arg)
 ClinVar dbSNP
17g.61784318A>GCA400481068BRIP1c.1073T>C (p.Leu358Pro)
c.1580T>C (p.Leu527Pro)
n.320T>C
c.*1006T>C (n.*1006T>C)
n.3321T>C
c.1358T>C (p.Leu453Pro)
c.184T>C
c.1097T>C (p.Leu366Pro)
c.1037T>C (p.Leu346Pro)
 gnomAD v4
17g.61784318A>TCA400481070BRIP1c.1073T>A (p.Leu358His)
c.1580T>A (p.Leu527His)
n.320T>A
c.*1006T>A (n.*1006T>A)
n.3321T>A
c.1358T>A (p.Leu453His)
c.184T>A
c.1097T>A (p.Leu366His)
c.1037T>A (p.Leu346His)
 dbSNP
17g.61784319G>ACA400481072BRIP1c.1072C>T (p.Leu358Phe)
c.1579C>T (p.Leu527Phe)
n.319C>T
c.*1005C>T (n.*1005C>T)
n.3320C>T
c.1357C>T (p.Leu453Phe)
c.183C>T
c.1096C>T (p.Leu366Phe)
c.1036C>T (p.Leu346Phe)
 dbSNP
17g.61784319G>CCA400481073BRIP1c.1072C>G (p.Leu358Val)
c.1579C>G (p.Leu527Val)
n.319C>G
c.*1005C>G (n.*1005C>G)
n.3320C>G
c.1357C>G (p.Leu453Val)
c.183C>G
c.1096C>G (p.Leu366Val)
c.1036C>G (p.Leu346Val)
 dbSNP
17g.61784319G>TCA400481075BRIP1c.1072C>A (p.Leu358Ile)
c.1579C>A (p.Leu527Ile)
n.319C>A
c.*1005C>A (n.*1005C>A)
n.3320C>A
c.1357C>A (p.Leu453Ile)
c.183C>A
c.1096C>A (p.Leu366Ile)
c.1036C>A (p.Leu346Ile)
 dbSNP
17g.61784320C>ACA400481077BRIP1c.1071G>T (p.Met357Ile)
c.1578G>T (p.Met526Ile)
n.318G>T
c.*1004G>T (n.*1004G>T)
n.3319G>T
c.1356G>T (p.Met452Ile)
c.182G>T
c.1095G>T (p.Met365Ile)
c.1035G>T (p.Met345Ile)
 dbSNP
17g.61784320C=CA2269172023BRIP1c.1071G= (p.Met357=)
c.1578G= (p.Met526=)
n.318G=
c.*1004G= (n.*1004G=)
n.3319G=
c.1356G= (p.Met452=)
c.182G=
c.1095G= (p.Met365=)
c.1035G= (p.Met345=)
17g.61784320C>GCA400481080BRIP1c.1071G>C (p.Met357Ile)
c.1578G>C (p.Met526Ile)
n.318G>C
c.*1004G>C (n.*1004G>C)
n.3319G>C
c.1356G>C (p.Met452Ile)
c.182G>C
c.1095G>C (p.Met365Ile)
c.1035G>C (p.Met345Ile)
 dbSNP
17g.61784320C>TCA16020689BRIP1c.1071G>A (p.Met357Ile)
c.1578G>A (p.Met526Ile)
n.318G>A
c.*1004G>A (n.*1004G>A)
n.3319G>A
c.1356G>A (p.Met452Ile)
c.182G>A
c.1095G>A (p.Met365Ile)
c.1035G>A (p.Met345Ile)
 ClinVar dbSNP
17g.61784321A>CCA400481082BRIP1c.1070T>G (p.Met357Arg)
c.1577T>G (p.Met526Arg)
n.317T>G
c.*1003T>G (n.*1003T>G)
n.3318T>G
c.1355T>G (p.Met452Arg)
c.181T>G
c.1094T>G (p.Met365Arg)
c.1034T>G (p.Met345Arg)
17g.61784321A>GCA400481086BRIP1c.1070T>C (p.Met357Thr)
c.1577T>C (p.Met526Thr)
n.317T>C
c.*1003T>C (n.*1003T>C)
n.3318T>C
c.1355T>C (p.Met452Thr)
c.181T>C
c.1094T>C (p.Met365Thr)
c.1034T>C (p.Met345Thr)
17g.61784321A>TCA400481084BRIP1c.1070T>A (p.Met357Lys)
c.1577T>A (p.Met526Lys)
n.317T>A
c.*1003T>A (n.*1003T>A)
n.3318T>A
c.1355T>A (p.Met452Lys)
c.181T>A
c.1094T>A (p.Met365Lys)
c.1034T>A (p.Met345Lys)
 ClinVar
17g.61784322T>ACA400481088BRIP1c.1069A>T (p.Met357Leu)
c.1576A>T (p.Met526Leu)
n.316A>T
c.*1002A>T (n.*1002A>T)
n.3317A>T
c.1354A>T (p.Met452Leu)
c.180A>T
c.1093A>T (p.Met365Leu)
c.1033A>T (p.Met345Leu)
17g.61784322T>CCA400481091BRIP1c.1069A>G (p.Met357Val)
c.1576A>G (p.Met526Val)
n.316A>G
c.*1002A>G (n.*1002A>G)
n.3317A>G
c.1354A>G (p.Met452Val)
c.180A>G
c.1093A>G (p.Met365Val)
c.1033A>G (p.Met345Val)
17g.61784322T>GCA400481090BRIP1c.1069A>C (p.Met357Leu)
c.1576A>C (p.Met526Leu)
n.316A>C
c.*1002A>C (n.*1002A>C)
n.3317A>C
c.1354A>C (p.Met452Leu)
c.180A>C
c.1093A>C (p.Met365Leu)
c.1033A>C (p.Met345Leu)
17g.61784323T>ACA501150705BRIP1c.1068A>T (p.Ile356=)
c.1575A>T (p.Ile525=)
n.315A>T
c.*1001A>T (n.*1001A>T)
n.3316A>T
c.1353A>T (p.Ile451=)
c.179A>T
c.1092A>T (p.Ile364=)
c.1032A>T (p.Ile344=)
17g.61784323T>CCA400481092BRIP1c.1068A>G (p.Ile356Met)
c.1575A>G (p.Ile525Met)
n.315A>G
c.*1001A>G (n.*1001A>G)
n.3316A>G
c.1353A>G (p.Ile451Met)
c.179A>G
c.1092A>G (p.Ile364Met)
c.1032A>G (p.Ile344Met)
17g.61784323T>GCA501150706BRIP1c.1068A>C (p.Ile356=)
c.1575A>C (p.Ile525=)
n.315A>C
c.*1001A>C (n.*1001A>C)
n.3316A>C
c.1353A>C (p.Ile451=)
c.179A>C
c.1092A>C (p.Ile364=)
c.1032A>C (p.Ile344=)
17g.61784323_61784324delinsTACA2269172024BRIP1c.1067_1068delinsTA (p.Ile356=)
c.1574_1575delinsTA (p.Ile525=)
n.314_315delinsTA
c.*1000_*1001delinsTA (n.*1000_*1001delinsTA)
n.3315_3316delinsTA
c.1352_1353delinsTA (p.Ile451=)
c.178_179delinsTA
c.1091_1092delinsTA (p.Ile364=)
c.1031_1032delinsTA (p.Ile344=)
17g.61784324delCA8690714BRIP1c.1067del (p.Ile356LysfsTer?)
c.1574del (p.Ile525LysfsTer?)
n.314del
c.*1000del (n.*1000del)
n.3315del
c.1352del (p.Ile451LysfsTer?)
c.178del
c.1091del (p.Ile364LysfsTer?)
c.1031del (p.Ile344LysfsTer?)
 dbSNP ExAC
17g.61784324A>CCA400481097BRIP1c.1067T>G (p.Ile356Arg)
c.1574T>G (p.Ile525Arg)
n.314T>G
c.*1000T>G (n.*1000T>G)
n.3315T>G
c.1352T>G (p.Ile451Arg)
c.178T>G
c.1091T>G (p.Ile364Arg)
c.1031T>G (p.Ile344Arg)
17g.61784324A>GCA400481095BRIP1c.1067T>C (p.Ile356Thr)
c.1574T>C (p.Ile525Thr)
n.314T>C
c.*1000T>C (n.*1000T>C)
n.3315T>C
c.1352T>C (p.Ile451Thr)
c.178T>C
c.1091T>C (p.Ile364Thr)
c.1031T>C (p.Ile344Thr)
17g.61784324A>TCA400481100BRIP1c.1067T>A (p.Ile356Lys)
c.1574T>A (p.Ile525Lys)
n.314T>A
c.*1000T>A (n.*1000T>A)
n.3315T>A
c.1352T>A (p.Ile451Lys)
c.178T>A
c.1091T>A (p.Ile364Lys)
c.1031T>A (p.Ile344Lys)
17g.61784324_61784327delinsATTTCA2269172025BRIP1c.1064_1067delinsAAAT (p.Gln355=)
c.1571_1574delinsAAAT (p.Gln524=)
n.311_314delinsAAAT
c.*997_*1000delinsAAAT (n.*997_*1000delinsAAAT)
n.3312_3315delinsAAAT
c.1349_1352delinsAAAT (p.Gln450=)
c.175_178delinsAAAT
c.1088_1091delinsAAAT (p.Gln363=)
c.1028_1031delinsAAAT (p.Gln343=)
17g.61784325T>ACA400481102BRIP1c.1066A>T (p.Ile356Leu)
c.1573A>T (p.Ile525Leu)
n.313A>T
c.*999A>T (n.*999A>T)
n.3314A>T
c.1351A>T (p.Ile451Leu)
c.177A>T
c.1090A>T (p.Ile364Leu)
c.1030A>T (p.Ile344Leu)
 dbSNP
17g.61784325T>CCA400481107BRIP1c.1066A>G (p.Ile356Val)
c.1573A>G (p.Ile525Val)
n.313A>G
c.*999A>G (n.*999A>G)
n.3314A>G
c.1351A>G (p.Ile451Val)
c.177A>G
c.1090A>G (p.Ile364Val)
c.1030A>G (p.Ile344Val)
17g.61784325T>GCA400481104BRIP1c.1066A>C (p.Ile356Leu)
c.1573A>C (p.Ile525Leu)
n.313A>C
c.*999A>C (n.*999A>C)
n.3314A>C
c.1351A>C (p.Ile451Leu)
c.177A>C
c.1090A>C (p.Ile364Leu)
c.1030A>C (p.Ile344Leu)
17g.61784325_61784327delCA16620531BRIP1c.1064_1066del (p.Gln355_Ile356delinsLeu)
c.1571_1573del (p.Gln524_Ile525delinsLeu)
n.311_313del
c.*997_*999del (n.*997_*999del)
n.3312_3314del
c.1349_1351del (p.Gln450_Ile451delinsLeu)
c.175_177del
c.1088_1090del (p.Gln363_Ile364delinsLeu)
c.1028_1030del (p.Gln343_Ile344delinsLeu)
 ClinVar dbSNP gnomAD v4
17g.61784326T>ACA400481108BRIP1c.1065A>T (p.Gln355His)
c.1572A>T (p.Gln524His)
n.312A>T
c.*998A>T (n.*998A>T)
n.3313A>T
c.1350A>T (p.Gln450His)
c.176A>T
c.1089A>T (p.Gln363His)
c.1029A>T (p.Gln343His)
17g.61784326T>CCA501150707BRIP1c.1065A>G (p.Gln355=)
c.1572A>G (p.Gln524=)
n.312A>G
c.*998A>G (n.*998A>G)
n.3313A>G
c.1350A>G (p.Gln450=)
c.176A>G
c.1089A>G (p.Gln363=)
c.1029A>G (p.Gln343=)
17g.61784326T>GCA400481110BRIP1c.1065A>C (p.Gln355His)
c.1572A>C (p.Gln524His)
n.312A>C
c.*998A>C (n.*998A>C)
n.3313A>C
c.1350A>C (p.Gln450His)
c.176A>C
c.1089A>C (p.Gln363His)
c.1029A>C (p.Gln343His)
17g.61784327T>ACA400481112BRIP1c.1064A>T (p.Gln355Leu)
c.1571A>T (p.Gln524Leu)
n.311A>T
c.*997A>T (n.*997A>T)
n.3312A>T
c.1349A>T (p.Gln450Leu)
c.175A>T
c.1088A>T (p.Gln363Leu)
c.1028A>T (p.Gln343Leu)
 ClinVar
17g.61784327T>CCA165345BRIP1c.1064A>G (p.Gln355Arg)
c.1571A>G (p.Gln524Arg)
n.311A>G
c.*997A>G (n.*997A>G)
n.3312A>G
c.1349A>G (p.Gln450Arg)
c.175A>G
c.1088A>G (p.Gln363Arg)
c.1028A>G (p.Gln343Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.61784327T>GCA16615843BRIP1c.1064A>C (p.Gln355Pro)
c.1571A>C (p.Gln524Pro)
n.311A>C
c.*997A>C (n.*997A>C)
n.3312A>C
c.1349A>C (p.Gln450Pro)
c.175A>C
c.1088A>C (p.Gln363Pro)
c.1028A>C (p.Gln343Pro)
 ClinVar dbSNP
17g.61784327T=CA2269172026BRIP1c.1064A= (p.Gln355=)
c.1571A= (p.Gln524=)
n.311A=
c.*997A= (n.*997A=)
n.3312A=
c.1349A= (p.Gln450=)
c.175A=
c.1088A= (p.Gln363=)
c.1028A= (p.Gln343=)
17g.61784328G>ACA400481116BRIP1c.1063C>T (p.Gln355Ter)
c.1570C>T (p.Gln524Ter)
n.310C>T
c.*996C>T (n.*996C>T)
n.3311C>T
c.1348C>T (p.Gln450Ter)
c.174C>T
c.1087C>T (p.Gln363Ter)
c.1027C>T (p.Gln343Ter)
 dbSNP
17g.61784328G>CCA400481118BRIP1c.1063C>G (p.Gln355Glu)
c.1570C>G (p.Gln524Glu)
n.310C>G
c.*996C>G (n.*996C>G)
n.3311C>G
c.1348C>G (p.Gln450Glu)
c.174C>G
c.1087C>G (p.Gln363Glu)
c.1027C>G (p.Gln343Glu)
 ClinVar dbSNP
17g.61784328G=CA2269172027BRIP1c.1063C= (p.Gln355=)
c.1570C= (p.Gln524=)
n.310C=
c.*996C= (n.*996C=)
n.3311C=
c.1348C= (p.Gln450=)
c.174C=
c.1087C= (p.Gln363=)
c.1027C= (p.Gln343=)
17g.61784328G>TCA400481119BRIP1c.1063C>A (p.Gln355Lys)
c.1570C>A (p.Gln524Lys)
n.310C>A
c.*996C>A (n.*996C>A)
n.3311C>A
c.1348C>A (p.Gln450Lys)
c.174C>A
c.1087C>A (p.Gln363Lys)
c.1027C>A (p.Gln343Lys)
17g.61784329A>CCA501150708BRIP1c.1062T>G (p.Thr354=)
c.1569T>G (p.Thr523=)
n.309T>G
c.*995T>G (n.*995T>G)
n.3310T>G
c.1347T>G (p.Thr449=)
c.173T>G
c.1086T>G (p.Thr362=)
c.1026T>G (p.Thr342=)
17g.61784329A>GCA501150710BRIP1c.1062T>C (p.Thr354=)
c.1569T>C (p.Thr523=)
n.309T>C
c.*995T>C (n.*995T>C)
n.3310T>C
c.1347T>C (p.Thr449=)
c.173T>C
c.1086T>C (p.Thr362=)
c.1026T>C (p.Thr342=)
 ClinVar dbSNP
17g.61784329A>TCA501150709BRIP1c.1062T>A (p.Thr354=)
c.1569T>A (p.Thr523=)
n.309T>A
c.*995T>A (n.*995T>A)
n.3310T>A
c.1347T>A (p.Thr449=)
c.173T>A
c.1086T>A (p.Thr362=)
c.1026T>A (p.Thr342=)
 dbSNP
17g.61784330G>ACA16615813BRIP1c.1061C>T (p.Thr354Ile)
c.1568C>T (p.Thr523Ile)
n.308C>T
c.*994C>T (n.*994C>T)
n.3309C>T
c.1346C>T (p.Thr449Ile)
c.172C>T
c.1085C>T (p.Thr362Ile)
c.1025C>T (p.Thr342Ile)
 ClinVar dbSNP
17g.61784330G>CCA400481123BRIP1c.1061C>G (p.Thr354Ser)
c.1568C>G (p.Thr523Ser)
n.308C>G
c.*994C>G (n.*994C>G)
n.3309C>G
c.1346C>G (p.Thr449Ser)
c.172C>G
c.1085C>G (p.Thr362Ser)
c.1025C>G (p.Thr342Ser)
 dbSNP
17g.61784330G=CA2269172028BRIP1c.1061C= (p.Thr354=)
c.1568C= (p.Thr523=)
n.308C=
c.*994C= (n.*994C=)
n.3309C=
c.1346C= (p.Thr449=)
c.172C=
c.1085C= (p.Thr362=)
c.1025C= (p.Thr342=)
17g.61784330G>TCA400481125BRIP1c.1061C>A (p.Thr354Asn)
c.1568C>A (p.Thr523Asn)
n.308C>A
c.*994C>A (n.*994C>A)
n.3309C>A
c.1346C>A (p.Thr449Asn)
c.172C>A
c.1085C>A (p.Thr362Asn)
c.1025C>A (p.Thr342Asn)
 dbSNP
17g.61784331T>ACA400481127BRIP1c.1060A>T (p.Thr354Ser)
c.1567A>T (p.Thr523Ser)
n.307A>T
c.*993A>T (n.*993A>T)
n.3308A>T
c.1345A>T (p.Thr449Ser)
c.171A>T
c.1084A>T (p.Thr362Ser)
c.1024A>T (p.Thr342Ser)
 dbSNP
17g.61784331T>CCA400481129BRIP1c.1060A>G (p.Thr354Ala)
c.1567A>G (p.Thr523Ala)
n.307A>G
c.*993A>G (n.*993A>G)
n.3308A>G
c.1345A>G (p.Thr449Ala)
c.171A>G
c.1084A>G (p.Thr362Ala)
c.1024A>G (p.Thr342Ala)
 ClinVar dbSNP gnomAD v4
17g.61784331T>GCA400481131BRIP1c.1060A>C (p.Thr354Pro)
c.1567A>C (p.Thr523Pro)
n.307A>C
c.*993A>C (n.*993A>C)
n.3308A>C
c.1345A>C (p.Thr449Pro)
c.171A>C
c.1084A>C (p.Thr362Pro)
c.1024A>C (p.Thr342Pro)
17g.61784331T=CA2269172029BRIP1c.1060A= (p.Thr354=)
c.1567A= (p.Thr523=)
n.307A=
c.*993A= (n.*993A=)
n.3308A=
c.1345A= (p.Thr449=)
c.171A=
c.1084A= (p.Thr362=)
c.1024A= (p.Thr342=)
17g.61784332T>ACA501150711BRIP1c.1059A>T (p.Ser353=)
c.1566A>T (p.Ser522=)
n.306A>T
c.*992A>T (n.*992A>T)
n.3307A>T
c.1344A>T (p.Ser448=)
c.170A>T
c.1083A>T (p.Ser361=)
c.1023A>T (p.Ser341=)
17g.61784332T>CCA16608572BRIP1c.1059A>G (p.Ser353=)
c.1566A>G (p.Ser522=)
n.306A>G
c.*992A>G (n.*992A>G)
n.3307A>G
c.1344A>G (p.Ser448=)
c.170A>G
c.1083A>G (p.Ser361=)
c.1023A>G (p.Ser341=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.61784332T>GCA501150712BRIP1c.1059A>C (p.Ser353=)
c.1566A>C (p.Ser522=)
n.306A>C
c.*992A>C (n.*992A>C)
n.3307A>C
c.1344A>C (p.Ser448=)
c.170A>C
c.1083A>C (p.Ser361=)
c.1023A>C (p.Ser341=)
17g.61784332T=CA2269172030BRIP1c.1059A= (p.Ser353=)
c.1566A= (p.Ser522=)
n.306A=
c.*992A= (n.*992A=)
n.3307A=
c.1344A= (p.Ser448=)
c.170A=
c.1083A= (p.Ser361=)
c.1023A= (p.Ser341=)
17g.61784333G>ACA400481133BRIP1c.1058C>T (p.Ser353Leu)
c.1565C>T (p.Ser522Leu)
n.305C>T
c.*991C>T (n.*991C>T)
n.3306C>T
c.1343C>T (p.Ser448Leu)
c.169C>T
c.1082C>T (p.Ser361Leu)
c.1022C>T (p.Ser341Leu)
 ClinVar dbSNP
17g.61784333G>CCA400481135BRIP1c.1058C>G (p.Ser353Ter)
c.1565C>G (p.Ser522Ter)
n.305C>G
c.*991C>G (n.*991C>G)
n.3306C>G
c.1343C>G (p.Ser448Ter)
c.169C>G
c.1082C>G (p.Ser361Ter)
c.1022C>G (p.Ser341Ter)
 dbSNP
17g.61784333G=CA2269172031BRIP1c.1058C= (p.Ser353=)
c.1565C= (p.Ser522=)
n.305C=
c.*991C= (n.*991C=)
n.3306C=
c.1343C= (p.Ser448=)
c.169C=
c.1082C= (p.Ser361=)
c.1022C= (p.Ser341=)
17g.61784333G>TCA400481137BRIP1c.1058C>A (p.Ser353Ter)
c.1565C>A (p.Ser522Ter)
n.305C>A
c.*991C>A (n.*991C>A)
n.3306C>A
c.1343C>A (p.Ser448Ter)
c.169C>A
c.1082C>A (p.Ser361Ter)
c.1022C>A (p.Ser341Ter)
 dbSNP
17g.61784334A=CA2269172032BRIP1c.1057T= (p.Ser353=)
c.1564T= (p.Ser522=)
n.304T=
c.*990T= (n.*990T=)
n.3305T=
c.1342T= (p.Ser448=)
c.168T=
c.1081T= (p.Ser361=)
c.1021T= (p.Ser341=)
17g.61784334A>CCA400481144BRIP1c.1057T>G (p.Ser353Ala)
c.1564T>G (p.Ser522Ala)
n.304T>G
c.*990T>G (n.*990T>G)
n.3305T>G
c.1342T>G (p.Ser448Ala)
c.168T>G
c.1081T>G (p.Ser361Ala)
c.1021T>G (p.Ser341Ala)
17g.61784334A>GCA400481140BRIP1c.1057T>C (p.Ser353Pro)
c.1564T>C (p.Ser522Pro)
n.304T>C
c.*990T>C (n.*990T>C)
n.3305T>C
c.1342T>C (p.Ser448Pro)
c.168T>C
c.1081T>C (p.Ser361Pro)
c.1021T>C (p.Ser341Pro)
 ClinVar dbSNP
17g.61784334A>TCA400481142BRIP1c.1057T>A (p.Ser353Thr)
c.1564T>A (p.Ser522Thr)
n.304T>A
c.*990T>A (n.*990T>A)
n.3305T>A
c.1342T>A (p.Ser448Thr)
c.168T>A
c.1081T>A (p.Ser361Thr)
c.1021T>A (p.Ser341Thr)
 dbSNP gnomAD v4
17g.61784335T>ACA501150713BRIP1c.1056A>T (p.Ala352=)
c.1563A>T (p.Ala521=)
n.303A>T
c.*989A>T (n.*989A>T)
n.3304A>T
c.1341A>T (p.Ala447=)
c.167A>T
c.1080A>T (p.Ala360=)
c.1020A>T (p.Ala340=)
 dbSNP
17g.61784335T>CCA501150715BRIP1c.1056A>G (p.Ala352=)
c.1563A>G (p.Ala521=)
n.303A>G
c.*989A>G (n.*989A>G)
n.3304A>G
c.1341A>G (p.Ala447=)
c.167A>G
c.1080A>G (p.Ala360=)
c.1020A>G (p.Ala340=)
 ClinVar
17g.61784335T>GCA501150714BRIP1c.1056A>C (p.Ala352=)
c.1563A>C (p.Ala521=)
n.303A>C
c.*989A>C (n.*989A>C)
n.3304A>C
c.1341A>C (p.Ala447=)
c.167A>C
c.1080A>C (p.Ala360=)
c.1020A>C (p.Ala340=)
17g.61784336G>ACA400481146BRIP1c.1055C>T (p.Ala352Val)
c.1562C>T (p.Ala521Val)
n.302C>T
c.*988C>T (n.*988C>T)
n.3303C>T
c.1340C>T (p.Ala447Val)
c.166C>T
c.1079C>T (p.Ala360Val)
c.1019C>T (p.Ala340Val)
 ClinVar dbSNP
17g.61784336G>CCA400481148BRIP1c.1055C>G (p.Ala352Gly)
c.1562C>G (p.Ala521Gly)
n.302C>G
c.*988C>G (n.*988C>G)
n.3303C>G
c.1340C>G (p.Ala447Gly)
c.166C>G
c.1079C>G (p.Ala360Gly)
c.1019C>G (p.Ala340Gly)
 dbSNP
17g.61784336G=CA2269172033BRIP1c.1055C= (p.Ala352=)
c.1562C= (p.Ala521=)
n.302C=
c.*988C= (n.*988C=)
n.3303C=
c.1340C= (p.Ala447=)
c.166C=
c.1079C= (p.Ala360=)
c.1019C= (p.Ala340=)
17g.61784336G>TCA400481149BRIP1c.1055C>A (p.Ala352Glu)
c.1562C>A (p.Ala521Glu)
n.302C>A
c.*988C>A (n.*988C>A)
n.3303C>A
c.1340C>A (p.Ala447Glu)
c.166C>A
c.1079C>A (p.Ala360Glu)
c.1019C>A (p.Ala340Glu)
 dbSNP
17g.61784337C>ACA400481151BRIP1c.1054G>T (p.Ala352Ser)
c.1561G>T (p.Ala521Ser)
n.301G>T
c.*987G>T (n.*987G>T)
n.3302G>T
c.1339G>T (p.Ala447Ser)
c.165G>T
c.1078G>T (p.Ala360Ser)
c.1018G>T (p.Ala340Ser)
 dbSNP
17g.61784337C=CA2269172034BRIP1c.1054G= (p.Ala352=)
c.1561G= (p.Ala521=)
n.301G=
c.*987G= (n.*987G=)
n.3302G=
c.1339G= (p.Ala447=)
c.165G=
c.1078G= (p.Ala360=)
c.1018G= (p.Ala340=)
17g.61784337C>GCA400481152BRIP1c.1054G>C (p.Ala352Pro)
c.1561G>C (p.Ala521Pro)
n.301G>C
c.*987G>C (n.*987G>C)
n.3302G>C
c.1339G>C (p.Ala447Pro)
c.165G>C
c.1078G>C (p.Ala360Pro)
c.1018G>C (p.Ala340Pro)
 dbSNP
17g.61784337C>TCA292283062BRIP1c.1054G>A (p.Ala352Thr)
c.1561G>A (p.Ala521Thr)
n.301G>A
c.*987G>A (n.*987G>A)
n.3302G>A
c.1339G>A (p.Ala447Thr)
c.165G>A
c.1078G>A (p.Ala360Thr)
c.1018G>A (p.Ala340Thr)
 ClinVar dbSNP gnomAD v4
17g.61784338A=CA2269172035BRIP1c.1053T= (p.Ser351=)
c.1560T= (p.Ser520=)
n.300T=
c.*986T= (n.*986T=)
n.3301T=
c.1338T= (p.Ser446=)
c.164T=
c.1077T= (p.Ser359=)
c.1017T= (p.Ser339=)
17g.61784338A>CCA400481155BRIP1c.1053T>G (p.Ser351Arg)
c.1560T>G (p.Ser520Arg)
n.300T>G
c.*986T>G (n.*986T>G)
n.3301T>G
c.1338T>G (p.Ser446Arg)
c.164T>G
c.1077T>G (p.Ser359Arg)
c.1017T>G (p.Ser339Arg)
17g.61784338A>GCA501150716BRIP1c.1053T>C (p.Ser351=)
c.1560T>C (p.Ser520=)
n.300T>C
c.*986T>C (n.*986T>C)
n.3301T>C
c.1338T>C (p.Ser446=)
c.164T>C
c.1077T>C (p.Ser359=)
c.1017T>C (p.Ser339=)
17g.61784338A>TCA298887BRIP1c.1053T>A (p.Ser351Arg)
c.1560T>A (p.Ser520Arg)
n.300T>A
c.*986T>A (n.*986T>A)
n.3301T>A
c.1338T>A (p.Ser446Arg)
c.164T>A
c.1077T>A (p.Ser359Arg)
c.1017T>A (p.Ser339Arg)
 ClinVar dbSNP
17g.61784339C>ACA400481158BRIP1c.1052G>T (p.Ser351Ile)
c.1559G>T (p.Ser520Ile)
n.299G>T
c.*985G>T (n.*985G>T)
n.3300G>T
c.1337G>T (p.Ser446Ile)
c.163G>T
c.1076G>T (p.Ser359Ile)
c.1016G>T (p.Ser339Ile)
 dbSNP
17g.61784339C=CA2269172037BRIP1c.1052G= (p.Ser351=)
c.1559G= (p.Ser520=)
n.299G=
c.*985G= (n.*985G=)
n.3300G=
c.1337G= (p.Ser446=)
c.163G=
c.1076G= (p.Ser359=)
c.1016G= (p.Ser339=)
17g.61784339C>GCA8690715BRIP1c.1052G>C (p.Ser351Thr)
c.1559G>C (p.Ser520Thr)
n.299G>C
c.*985G>C (n.*985G>C)
n.3300G>C
c.1337G>C (p.Ser446Thr)
c.163G>C
c.1076G>C (p.Ser359Thr)
c.1016G>C (p.Ser339Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.61784339C>TCA400481161BRIP1c.1052G>A (p.Ser351Asn)
c.1559G>A (p.Ser520Asn)
n.299G>A
c.*985G>A (n.*985G>A)
n.3300G>A
c.1337G>A (p.Ser446Asn)
c.163G>A
c.1076G>A (p.Ser359Asn)
c.1016G>A (p.Ser339Asn)
 ClinVar dbSNP gnomAD v4
17g.61784339_61784342delinsCTAACA2269172036BRIP1c.1049_1052delinsTTAG (p.Ile350=)
c.1556_1559delinsTTAG (p.Ile519=)
n.296_299delinsTTAG
c.*982_*985delinsTTAG (n.*982_*985delinsTTAG)
n.3297_3300delinsTTAG
c.1334_1337delinsTTAG (p.Ile445=)
c.160_163delinsTTAG
c.1073_1076delinsTTAG (p.Ile358=)
c.1013_1016delinsTTAG (p.Ile338=)
17g.61784340T>ACA400481167BRIP1c.1051A>T (p.Ser351Cys)
c.1558A>T (p.Ser520Cys)
n.298A>T
c.*984A>T (n.*984A>T)
n.3299A>T
c.1336A>T (p.Ser446Cys)
c.162A>T
c.1075A>T (p.Ser359Cys)
c.1015A>T (p.Ser339Cys)
17g.61784340T>CCA400481165BRIP1c.1051A>G (p.Ser351Gly)
c.1558A>G (p.Ser520Gly)
n.298A>G
c.*984A>G (n.*984A>G)
n.3299A>G
c.1336A>G (p.Ser446Gly)
c.162A>G
c.1075A>G (p.Ser359Gly)
c.1015A>G (p.Ser339Gly)
 ClinVar dbSNP
17g.61784340T>GCA400481163BRIP1c.1051A>C (p.Ser351Arg)
c.1558A>C (p.Ser520Arg)
n.298A>C
c.*984A>C (n.*984A>C)
n.3299A>C
c.1336A>C (p.Ser446Arg)
c.162A>C
c.1075A>C (p.Ser359Arg)
c.1015A>C (p.Ser339Arg)
17g.61784340T=CA2269172038BRIP1c.1051A= (p.Ser351=)
c.1558A= (p.Ser520=)
n.298A=
c.*984A= (n.*984A=)
n.3299A=
c.1336A= (p.Ser446=)
c.162A=
c.1075A= (p.Ser359=)
c.1015A= (p.Ser339=)
17g.61784343_61784345delCA773810141BRIP1c.1049_1051del (p.Ile350del)
c.1556_1558del (p.Ile519del)
n.296_298del
c.*982_*984del (n.*982_*984del)
n.3297_3299del
c.1334_1336del (p.Ile445del)
c.160_162del
c.1073_1075del (p.Ile358del)
c.1013_1015del (p.Ile338del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.61784341A>CCA400481169BRIP1c.1050T>G (p.Ile350Met)
c.1557T>G (p.Ile519Met)
n.297T>G
c.*983T>G (n.*983T>G)
n.3298T>G
c.1335T>G (p.Ile445Met)
c.161T>G
c.1074T>G (p.Ile358Met)
c.1014T>G (p.Ile338Met)
17g.61784341A>GCA501150718BRIP1c.1050T>C (p.Ile350=)
c.1557T>C (p.Ile519=)
n.297T>C
c.*983T>C (n.*983T>C)
n.3298T>C
c.1335T>C (p.Ile445=)
c.161T>C
c.1074T>C (p.Ile358=)
c.1014T>C (p.Ile338=)
17g.61784341A>TCA501150719BRIP1c.1050T>A (p.Ile350=)
c.1557T>A (p.Ile519=)
n.297T>A
c.*983T>A (n.*983T>A)
n.3298T>A
c.1335T>A (p.Ile445=)
c.161T>A
c.1074T>A (p.Ile358=)
c.1014T>A (p.Ile338=)
17g.61784342A=CA2269172039BRIP1c.1049T= (p.Ile350=)
c.1556T= (p.Ile519=)
n.296T=
c.*982T= (n.*982T=)
n.3297T=
c.1334T= (p.Ile445=)
c.160T=
c.1073T= (p.Ile358=)
c.1013T= (p.Ile338=)
17g.61784342A>CCA400481171BRIP1c.1049T>G (p.Ile350Ser)
c.1556T>G (p.Ile519Ser)
n.296T>G
c.*982T>G (n.*982T>G)
n.3297T>G
c.1334T>G (p.Ile445Ser)
c.160T>G
c.1073T>G (p.Ile358Ser)
c.1013T>G (p.Ile338Ser)
 dbSNP
17g.61784342A>GCA400481173BRIP1c.1049T>C (p.Ile350Thr)
c.1556T>C (p.Ile519Thr)
n.296T>C
c.*982T>C (n.*982T>C)
n.3297T>C
c.1334T>C (p.Ile445Thr)
c.160T>C
c.1073T>C (p.Ile358Thr)
c.1013T>C (p.Ile338Thr)
 ClinVar dbSNP gnomAD v4
17g.61784342A>TCA400481175BRIP1c.1049T>A (p.Ile350Asn)
c.1556T>A (p.Ile519Asn)
n.296T>A
c.*982T>A (n.*982T>A)
n.3297T>A
c.1334T>A (p.Ile445Asn)
c.160T>A
c.1073T>A (p.Ile358Asn)
c.1013T>A (p.Ile338Asn)
 ClinVar dbSNP
17g.61784343T>ACA400481177BRIP1c.1048A>T (p.Ile350Phe)
c.1555A>T (p.Ile519Phe)
n.295A>T
c.*981A>T (n.*981A>T)
n.3296A>T
c.1333A>T (p.Ile445Phe)
c.159A>T
c.1072A>T (p.Ile358Phe)
c.1012A>T (p.Ile338Phe)
 ClinVar dbSNP
17g.61784343T>CCA400481179BRIP1c.1048A>G (p.Ile350Val)
c.1555A>G (p.Ile519Val)
n.295A>G
c.*981A>G (n.*981A>G)
n.3296A>G
c.1333A>G (p.Ile445Val)
c.159A>G
c.1072A>G (p.Ile358Val)
c.1012A>G (p.Ile338Val)
17g.61784343T>GCA400481180BRIP1c.1048A>C (p.Ile350Leu)
c.1555A>C (p.Ile519Leu)
n.295A>C
c.*981A>C (n.*981A>C)
n.3296A>C
c.1333A>C (p.Ile445Leu)
c.159A>C
c.1072A>C (p.Ile358Leu)
c.1012A>C (p.Ile338Leu)
17g.61784344A=CA2269172040BRIP1c.1047T= (p.Val349=)
c.1554T= (p.Val518=)
n.294T=
c.*980T= (n.*980T=)
n.3295T=
c.1332T= (p.Val444=)
c.158T=
c.1071T= (p.Val357=)
c.1011T= (p.Val337=)
17g.61784344A>CCA501150722BRIP1c.1047T>G (p.Val349=)
c.1554T>G (p.Val518=)
n.294T>G
c.*980T>G (n.*980T>G)
n.3295T>G
c.1332T>G (p.Val444=)
c.158T>G
c.1071T>G (p.Val357=)
c.1011T>G (p.Val337=)
17g.61784344A>GCA501150720BRIP1c.1047T>C (p.Val349=)
c.1554T>C (p.Val518=)
n.294T>C
c.*980T>C (n.*980T>C)
n.3295T>C
c.1332T>C (p.Val444=)
c.158T>C
c.1071T>C (p.Val357=)
c.1011T>C (p.Val337=)
17g.61784344A>TCA501150721BRIP1c.1047T>A (p.Val349=)
c.1554T>A (p.Val518=)
n.294T>A
c.*980T>A (n.*980T>A)
n.3295T>A
c.1332T>A (p.Val444=)
c.158T>A
c.1071T>A (p.Val357=)
c.1011T>A (p.Val337=)
 dbSNP
17g.61784345A=CA2269172041BRIP1c.1046T= (p.Val349=)
c.1553T= (p.Val518=)
n.293T=
c.*979T= (n.*979T=)
n.3294T=
c.1331T= (p.Val444=)
c.157T=
c.1070T= (p.Val357=)
c.1010T= (p.Val337=)
17g.61784345A>CCA400481182BRIP1c.1046T>G (p.Val349Gly)
c.1553T>G (p.Val518Gly)
n.293T>G
c.*979T>G (n.*979T>G)
n.3294T>G
c.1331T>G (p.Val444Gly)
c.157T>G
c.1070T>G (p.Val357Gly)
c.1010T>G (p.Val337Gly)
 dbSNP
17g.61784345A>GCA400481184BRIP1c.1046T>C (p.Val349Ala)
c.1553T>C (p.Val518Ala)
n.293T>C
c.*979T>C (n.*979T>C)
n.3294T>C
c.1331T>C (p.Val444Ala)
c.157T>C
c.1070T>C (p.Val357Ala)
c.1010T>C (p.Val337Ala)
 dbSNP
17g.61784345A>TCA400481186BRIP1c.1046T>A (p.Val349Asp)
c.1553T>A (p.Val518Asp)
n.293T>A
c.*979T>A (n.*979T>A)
n.3294T>A
c.1331T>A (p.Val444Asp)
c.157T>A
c.1070T>A (p.Val357Asp)
c.1010T>A (p.Val337Asp)
 ClinVar dbSNP gnomAD v4
17g.61784345_61784346insGTACA626806703BRIP1c.1046_1047insACT (p.Val349_Ile350insLeu)
c.1553_1554insACT (p.Val518_Ile519insLeu)
n.293_294insACT
c.*979_*980insACT (n.*979_*980insACT)
n.3294_3295insACT
c.1331_1332insACT (p.Val444_Ile445insLeu)
c.157_158insACT
c.1070_1071insACT (p.Val357_Ile358insLeu)
c.1010_1011insACT (p.Val337_Ile338insLeu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.61784346C>ACA400481188BRIP1c.1045G>T (p.Val349Phe)
c.1552G>T (p.Val518Phe)
n.292G>T
c.*978G>T (n.*978G>T)
n.3293G>T
c.1330G>T (p.Val444Phe)
c.156G>T
c.1069G>T (p.Val357Phe)
c.1009G>T (p.Val337Phe)
 dbSNP
17g.61784346C=CA2269172042BRIP1c.1045G= (p.Val349=)
c.1552G= (p.Val518=)
n.292G=
c.*978G= (n.*978G=)
n.3293G=
c.1330G= (p.Val444=)
c.156G=
c.1069G= (p.Val357=)
c.1009G= (p.Val337=)
17g.61784346C>GCA400481189BRIP1c.1045G>C (p.Val349Leu)
c.1552G>C (p.Val518Leu)
n.292G>C
c.*978G>C (n.*978G>C)
n.3293G>C
c.1330G>C (p.Val444Leu)
c.156G>C
c.1069G>C (p.Val357Leu)
c.1009G>C (p.Val337Leu)
 dbSNP
17g.61784346C>TCA190066BRIP1c.1045G>A (p.Val349Ile)
c.1552G>A (p.Val518Ile)
n.292G>A
c.*978G>A (n.*978G>A)
n.3293G>A
c.1330G>A (p.Val444Ile)
c.156G>A
c.1069G>A (p.Val357Ile)
c.1009G>A (p.Val337Ile)
 ClinVar dbSNP gnomAD v4
17g.61784346_61784347delinsGTACCTGTTCA2825002577BRIP1c.1044_1045delinsAACAGGTAC (p.Val349ThrfsTer5)
c.1551_1552delinsAACAGGTAC (p.Val518ThrfsTer5)
n.291_292delinsAACAGGTAC
c.*977_*978delinsAACAGGTAC (n.*977_*978delinsAACAGGTAC)
n.3292_3293delinsAACAGGTAC
c.1329_1330delinsAACAGGTAC (p.Val444ThrfsTer5)
c.155_156delinsAACAGGTAC
c.1068_1069delinsAACAGGTAC (p.Val357ThrfsTer5)
c.1008_1009delinsAACAGGTAC (p.Val337ThrfsTer5)
 ClinVar
17g.61784346_61784347insCTGTCA626806704BRIP1c.1044_1045insACAG (p.Val349ThrfsTer4)
c.1551_1552insACAG (p.Val518ThrfsTer4)
n.291_292insACAG
c.*977_*978insACAG (n.*977_*978insACAG)
n.3292_3293insACAG
c.1329_1330insACAG (p.Val444ThrfsTer4)
c.155_156insACAG
c.1068_1069insACAG (p.Val357ThrfsTer4)
c.1008_1009insACAG (p.Val337ThrfsTer4)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.61784347A=CA2269172043BRIP1c.1044T= (p.Pro348=)
c.1551T= (p.Pro517=)
n.291T=
c.*977T= (n.*977T=)
n.3292T=
c.1329T= (p.Pro443=)
c.155T=
c.1068T= (p.Pro356=)
c.1008T= (p.Pro336=)
17g.61784347A>CCA501150724BRIP1c.1044T>G (p.Pro348=)
c.1551T>G (p.Pro517=)
n.291T>G
c.*977T>G (n.*977T>G)
n.3292T>G
c.1329T>G (p.Pro443=)
c.155T>G
c.1068T>G (p.Pro356=)
c.1008T>G (p.Pro336=)
 dbSNP
17g.61784347A>GCA501150725BRIP1c.1044T>C (p.Pro348=)
c.1551T>C (p.Pro517=)
n.291T>C
c.*977T>C (n.*977T>C)
n.3292T>C
c.1329T>C (p.Pro443=)
c.155T>C
c.1068T>C (p.Pro356=)
c.1008T>C (p.Pro336=)
 dbSNP
17g.61784347A>TCA501150726BRIP1c.1044T>A (p.Pro348=)
c.1551T>A (p.Pro517=)
n.291T>A
c.*977T>A (n.*977T>A)
n.3292T>A
c.1329T>A (p.Pro443=)
c.155T>A
c.1068T>A (p.Pro356=)
c.1008T>A (p.Pro336=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.61784348G>ACA191937BRIP1c.1043C>T (p.Pro348Leu)
c.1550C>T (p.Pro517Leu)
n.290C>T
c.*976C>T (n.*976C>T)
n.3291C>T
c.1328C>T (p.Pro443Leu)
c.154C>T
c.1067C>T (p.Pro356Leu)
c.1007C>T (p.Pro336Leu)
 ClinVar dbSNP
17g.61784348G>CCA400481196BRIP1c.1043C>G (p.Pro348Arg)
c.1550C>G (p.Pro517Arg)
n.290C>G
c.*976C>G (n.*976C>G)
n.3291C>G
c.1328C>G (p.Pro443Arg)
c.154C>G
c.1067C>G (p.Pro356Arg)
c.1007C>G (p.Pro336Arg)
 dbSNP
17g.61784348G=CA2269172044BRIP1c.1043C= (p.Pro348=)
c.1550C= (p.Pro517=)
n.290C=
c.*976C= (n.*976C=)
n.3291C=
c.1328C= (p.Pro443=)
c.154C=
c.1067C= (p.Pro356=)
c.1007C= (p.Pro336=)
17g.61784348G>TCA400481194BRIP1c.1043C>A (p.Pro348His)
c.1550C>A (p.Pro517His)
n.290C>A
c.*976C>A (n.*976C>A)
n.3291C>A
c.1328C>A (p.Pro443His)
c.154C>A
c.1067C>A (p.Pro356His)
c.1007C>A (p.Pro336His)
 dbSNP
17g.61784349G>ACA400481199BRIP1c.1042C>T (p.Pro348Ser)
c.1549C>T (p.Pro517Ser)
n.289C>T
c.*975C>T (n.*975C>T)
n.3290C>T
c.1327C>T (p.Pro443Ser)
c.153C>T
c.1066C>T (p.Pro356Ser)
c.1006C>T (p.Pro336Ser)
 ClinVar dbSNP
17g.61784349G>CCA400481200BRIP1c.1042C>G (p.Pro348Ala)
c.1549C>G (p.Pro517Ala)
n.289C>G
c.*975C>G (n.*975C>G)
n.3290C>G
c.1327C>G (p.Pro443Ala)
c.153C>G
c.1066C>G (p.Pro356Ala)
c.1006C>G (p.Pro336Ala)
 dbSNP
17g.61784349G=CA2269172045BRIP1c.1042C= (p.Pro348=)
c.1549C= (p.Pro517=)
n.289C=
c.*975C= (n.*975C=)
n.3290C=
c.1327C= (p.Pro443=)
c.153C=
c.1066C= (p.Pro356=)
c.1006C= (p.Pro336=)
17g.61784349G>TCA400481202BRIP1c.1042C>A (p.Pro348Thr)
c.1549C>A (p.Pro517Thr)
n.289C>A
c.*975C>A (n.*975C>A)
n.3290C>A
c.1327C>A (p.Pro443Thr)
c.153C>A
c.1066C>A (p.Pro356Thr)
c.1006C>A (p.Pro336Thr)
 ClinVar
17g.61784350T>ACA501150728BRIP1c.1041A>T (p.Val347=)
c.1548A>T (p.Val516=)
n.288A>T
c.*974A>T (n.*974A>T)
n.3289A>T
c.1326A>T (p.Val442=)
c.152A>T
c.1065A>T (p.Val355=)
c.1005A>T (p.Val335=)
 gnomAD v4
17g.61784350T>CCA501150730BRIP1c.1041A>G (p.Val347=)
c.1548A>G (p.Val516=)
n.288A>G
c.*974A>G (n.*974A>G)
n.3289A>G
c.1326A>G (p.Val442=)
c.152A>G
c.1065A>G (p.Val355=)
c.1005A>G (p.Val335=)
17g.61784350T>GCA501150729BRIP1c.1041A>C (p.Val347=)
c.1548A>C (p.Val516=)
n.288A>C
c.*974A>C (n.*974A>C)
n.3289A>C
c.1326A>C (p.Val442=)
c.152A>C
c.1065A>C (p.Val355=)
c.1005A>C (p.Val335=)
17g.61784351A=CA2269172046BRIP1c.1040T= (p.Val347=)
c.1547T= (p.Val516=)
n.287T=
c.*973T= (n.*973T=)
n.3288T=
c.1325T= (p.Val442=)
c.151T=
c.1064T= (p.Val355=)
c.1004T= (p.Val335=)
17g.61784351A>CCA400481204BRIP1c.1040T>G (p.Val347Gly)
c.1547T>G (p.Val516Gly)
n.287T>G
c.*973T>G (n.*973T>G)
n.3288T>G
c.1325T>G (p.Val442Gly)
c.151T>G
c.1064T>G (p.Val355Gly)
c.1004T>G (p.Val335Gly)
 dbSNP
17g.61784351A>GCA400481206BRIP1c.1040T>C (p.Val347Ala)
c.1547T>C (p.Val516Ala)
n.287T>C
c.*973T>C (n.*973T>C)
n.3288T>C
c.1325T>C (p.Val442Ala)
c.151T>C
c.1064T>C (p.Val355Ala)
c.1004T>C (p.Val335Ala)
17g.61784351A>TCA400481208BRIP1c.1040T>A (p.Val347Glu)
c.1547T>A (p.Val516Glu)
n.287T>A
c.*973T>A (n.*973T>A)
n.3288T>A
c.1325T>A (p.Val442Glu)
c.151T>A
c.1064T>A (p.Val355Glu)
c.1004T>A (p.Val335Glu)
 ClinVar dbSNP
17g.61784352C>ACA400481210BRIP1c.1039G>T (p.Val347Leu)
c.1546G>T (p.Val516Leu)
n.286G>T
c.*972G>T (n.*972G>T)
n.3287G>T
c.1324G>T (p.Val442Leu)
c.150G>T
c.1063G>T (p.Val355Leu)
c.1003G>T (p.Val335Leu)
17g.61784352C=CA2269172047BRIP1c.1039G= (p.Val347=)
c.1546G= (p.Val516=)
n.286G=
c.*972G= (n.*972G=)
n.3287G=
c.1324G= (p.Val442=)
c.150G=
c.1063G= (p.Val355=)
c.1003G= (p.Val335=)
17g.61784352C>GCA400481214BRIP1c.1039G>C (p.Val347Leu)
c.1546G>C (p.Val516Leu)
n.286G>C
c.*972G>C (n.*972G>C)
n.3287G>C
c.1324G>C (p.Val442Leu)
c.150G>C
c.1063G>C (p.Val355Leu)
c.1003G>C (p.Val335Leu)
17g.61784352C>TCA400481212BRIP1c.1039G>A (p.Val347Ile)
c.1546G>A (p.Val516Ile)
n.286G>A
c.*972G>A (n.*972G>A)
n.3287G>A
c.1324G>A (p.Val442Ile)
c.150G>A
c.1063G>A (p.Val355Ile)
c.1003G>A (p.Val335Ile)
 ClinVar dbSNP
17g.61784353T>ACA400481216BRIP1c.1038A>T (p.Glu346Asp)
c.1545A>T (p.Glu515Asp)
n.285A>T
c.*971A>T (n.*971A>T)
n.3286A>T
c.1323A>T (p.Glu441Asp)
c.149A>T
c.1062A>T (p.Glu354Asp)
c.1002A>T (p.Glu334Asp)
17g.61784353T>CCA501150731BRIP1c.1038A>G (p.Glu346=)
c.1545A>G (p.Glu515=)
n.285A>G
c.*971A>G (n.*971A>G)
n.3286A>G
c.1323A>G (p.Glu441=)
c.149A>G
c.1062A>G (p.Glu354=)
c.1002A>G (p.Glu334=)
 dbSNP
17g.61784353T>GCA400481218BRIP1c.1038A>C (p.Glu346Asp)
c.1545A>C (p.Glu515Asp)
n.285A>C
c.*971A>C (n.*971A>C)
n.3286A>C
c.1323A>C (p.Glu441Asp)
c.149A>C
c.1062A>C (p.Glu354Asp)
c.1002A>C (p.Glu334Asp)
 ClinVar dbSNP
17g.61784353T=CA2269172048BRIP1c.1038A= (p.Glu346=)
c.1545A= (p.Glu515=)
n.285A=
c.*971A= (n.*971A=)
n.3286A=
c.1323A= (p.Glu441=)
c.149A=
c.1062A= (p.Glu354=)
c.1002A= (p.Glu334=)
17g.61784354T>ACA400481220BRIP1c.1037A>T (p.Glu346Val)
c.1544A>T (p.Glu515Val)
n.284A>T
c.*970A>T (n.*970A>T)
n.3285A>T
c.1322A>T (p.Glu441Val)
c.148A>T
c.1061A>T (p.Glu354Val)
c.1001A>T (p.Glu334Val)
17g.61784354T>CCA400481222BRIP1c.1037A>G (p.Glu346Gly)
c.1544A>G (p.Glu515Gly)
n.284A>G
c.*970A>G (n.*970A>G)
n.3285A>G
c.1322A>G (p.Glu441Gly)
c.148A>G
c.1061A>G (p.Glu354Gly)
c.1001A>G (p.Glu334Gly)
 gnomAD v4
17g.61784354T>GCA400481223BRIP1c.1037A>C (p.Glu346Ala)
c.1544A>C (p.Glu515Ala)
n.284A>C
c.*970A>C (n.*970A>C)
n.3285A>C
c.1322A>C (p.Glu441Ala)
c.148A>C
c.1061A>C (p.Glu354Ala)
c.1001A>C (p.Glu334Ala)
17g.61784354_61784355delinsTCCA2269172049BRIP1c.1036_1037delinsGA (p.Glu346=)
c.1543_1544delinsGA (p.Glu515=)
n.283_284delinsGA
c.*969_*970delinsGA (n.*969_*970delinsGA)
n.3284_3285delinsGA
c.1321_1322delinsGA (p.Glu441=)
c.147_148delinsGA
c.1060_1061delinsGA (p.Glu354=)
c.1000_1001delinsGA (p.Glu334=)
17g.61784355delCA16620532BRIP1c.1036del (p.Glu346LysfsTer11)
c.1543del (p.Glu515LysfsTer11)
n.283del
c.*969del (n.*969del)
n.3284del
c.1321del (p.Glu441LysfsTer11)
c.147del
c.1060del (p.Glu354LysfsTer11)
c.1000del (p.Glu334LysfsTer11)
 ClinVar dbSNP
17g.61784355C>ACA400481229BRIP1c.1036G>T (p.Glu346Ter)
c.1543G>T (p.Glu515Ter)
n.283G>T
c.*969G>T (n.*969G>T)
n.3284G>T
c.1321G>T (p.Glu441Ter)
c.147G>T
c.1060G>T (p.Glu354Ter)
c.1000G>T (p.Glu334Ter)
17g.61784355C>GCA400481228BRIP1c.1036G>C (p.Glu346Gln)
c.1543G>C (p.Glu515Gln)
n.283G>C
c.*969G>C (n.*969G>C)
n.3284G>C
c.1321G>C (p.Glu441Gln)
c.147G>C
c.1060G>C (p.Glu354Gln)
c.1000G>C (p.Glu334Gln)
 dbSNP
17g.61784355C>TCA400481226BRIP1c.1036G>A (p.Glu346Lys)
c.1543G>A (p.Glu515Lys)
n.283G>A
c.*969G>A (n.*969G>A)
n.3284G>A
c.1321G>A (p.Glu441Lys)
c.147G>A
c.1060G>A (p.Glu354Lys)
c.1000G>A (p.Glu334Lys)
 ClinVar dbSNP
17g.61784356T>ACA400481231BRIP1c.1035A>T (p.Arg345Ser)
c.1542A>T (p.Arg514Ser)
n.282A>T
c.*968A>T (n.*968A>T)
n.3283A>T
c.1320A>T (p.Arg440Ser)
c.146A>T
c.1059A>T (p.Arg353Ser)
c.999A>T (p.Arg333Ser)
 dbSNP
17g.61784356T>CCA8690716BRIP1c.1035A>G (p.Arg345=)
c.1542A>G (p.Arg514=)
n.282A>G
c.*968A>G (n.*968A>G)
n.3283A>G
c.1320A>G (p.Arg440=)
c.146A>G
c.1059A>G (p.Arg353=)
c.999A>G (p.Arg333=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.61784356T>GCA400481232BRIP1c.1035A>C (p.Arg345Ser)
c.1542A>C (p.Arg514Ser)
n.282A>C
c.*968A>C (n.*968A>C)
n.3283A>C
c.1320A>C (p.Arg440Ser)
c.146A>C
c.1059A>C (p.Arg353Ser)
c.999A>C (p.Arg333Ser)
17g.61784356T=CA2269172050BRIP1c.1035A= (p.Arg345=)
c.1542A= (p.Arg514=)
n.282A=
c.*968A= (n.*968A=)
n.3283A=
c.1320A= (p.Arg440=)
c.146A=
c.1059A= (p.Arg353=)
c.999A= (p.Arg333=)
17g.61784357C>ACA400481235BRIP1c.1034G>T (p.Arg345Ile)
c.1541G>T (p.Arg514Ile)
n.281G>T
c.*967G>T (n.*967G>T)
n.3282G>T
c.1319G>T (p.Arg440Ile)
c.145G>T
c.1058G>T (p.Arg353Ile)
c.998G>T (p.Arg333Ile)
17g.61784357C>GCA400481237BRIP1c.1034G>C (p.Arg345Thr)
c.1541G>C (p.Arg514Thr)
n.281G>C
c.*967G>C (n.*967G>C)
n.3282G>C
c.1319G>C (p.Arg440Thr)
c.145G>C
c.1058G>C (p.Arg353Thr)
c.998G>C (p.Arg333Thr)
 dbSNP gnomAD v4
17g.61784357C>TCA400481238BRIP1c.1034G>A (p.Arg345Lys)
c.1541G>A (p.Arg514Lys)
n.281G>A
c.*967G>A (n.*967G>A)
n.3282G>A
c.1319G>A (p.Arg440Lys)
c.145G>A
c.1058G>A (p.Arg353Lys)
c.998G>A (p.Arg333Lys)
 dbSNP gnomAD v4
17g.61784358T>ACA400481239BRIP1c.1033A>T (p.Arg345Ter)
c.1540A>T (p.Arg514Ter)
n.280A>T
c.*966A>T (n.*966A>T)
n.3281A>T
c.1318A>T (p.Arg440Ter)
c.144A>T
c.1057A>T (p.Arg353Ter)
c.997A>T (p.Arg333Ter)
 dbSNP
17g.61784358T>CCA400481241BRIP1c.1033A>G (p.Arg345Gly)
c.1540A>G (p.Arg514Gly)
n.280A>G
c.*966A>G (n.*966A>G)
n.3281A>G
c.1318A>G (p.Arg440Gly)
c.144A>G
c.1057A>G (p.Arg353Gly)
c.997A>G (p.Arg333Gly)
17g.61784358T>GCA501150732BRIP1c.1033A>C (p.Arg345=)
c.1540A>C (p.Arg514=)
n.280A>C
c.*966A>C (n.*966A>C)
n.3281A>C
c.1318A>C (p.Arg440=)
c.144A>C
c.1057A>C (p.Arg353=)
c.997A>C (p.Arg333=)
17g.61784359T>ACA501150733BRIP1c.1032A>T (p.Ala344=)
c.1539A>T (p.Ala513=)
n.279A>T
c.*965A>T (n.*965A>T)
n.3280A>T
c.1317A>T (p.Ala439=)
c.143A>T
c.1056A>T (p.Ala352=)
c.996A>T (p.Ala332=)
17g.61784359T>CCA501150734BRIP1c.1032A>G (p.Ala344=)
c.1539A>G (p.Ala513=)
n.279A>G
c.*965A>G (n.*965A>G)
n.3280A>G
c.1317A>G (p.Ala439=)
c.143A>G
c.1056A>G (p.Ala352=)
c.996A>G (p.Ala332=)
 gnomAD v4
17g.61784359T>GCA501150735BRIP1c.1032A>C (p.Ala344=)
c.1539A>C (p.Ala513=)
n.279A>C
c.*965A>C (n.*965A>C)
n.3280A>C
c.1317A>C (p.Ala439=)
c.143A>C
c.1056A>C (p.Ala352=)
c.996A>C (p.Ala332=)

Number of alleles fetched