Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32338197_32338391del | CA2580618074 | BRCA2 | c.3842_4036del (p.Lys1281_Asp1345del) c.3473_3667del (p.Lys1158_Asp1222del) n.3842_4036del | |
13 | g.32338353_32338357del | CA2573149358 | BRCA2 | c.3998_4002del (p.Asn1333ArgfsTer3) c.3629_3633del (p.Asn1210ArgfsTer3) n.3998_4002del | ClinVar dbSNP |
13 | g.32338352A= | CA2082822758 | BRCA2 | c.3997A= (p.Asn1333=) c.3628A= (p.Asn1210=) n.3997A= | |
13 | g.32338352A>C | CA387778985 | BRCA2 | c.3997A>C (p.Asn1333His) c.3628A>C (p.Asn1210His) n.3997A>C | |
13 | g.32338352A>G | CA387778986 | BRCA2 | c.3997A>G (p.Asn1333Asp) c.3628A>G (p.Asn1210Asp) n.3997A>G | |
13 | g.32338352A>T | CA387778987 | BRCA2 | c.3997A>T (p.Asn1333Tyr) c.3628A>T (p.Asn1210Tyr) n.3997A>T | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338354_32338360del | CA2580087234 | BRCA2 | c.3999_4005del (p.Glu1335MetfsTer?) c.3630_3636del (p.Glu1212MetfsTer?) n.3999_4005del | ClinVar |
13 | g.32338353A>C | CA387778990 | BRCA2 | c.3998A>C (p.Asn1333Thr) c.3629A>C (p.Asn1210Thr) n.3998A>C | |
13 | g.32338353A>G | CA387778989 | BRCA2 | c.3998A>G (p.Asn1333Ser) c.3629A>G (p.Asn1210Ser) n.3998A>G | dbSNP |
13 | g.32338353A>T | CA387778988 | BRCA2 | c.3998A>T (p.Asn1333Ile) c.3629A>T (p.Asn1210Ile) n.3998A>T | dbSNP |
13 | g.32338354C>A | CA387778991 | BRCA2 | c.3999C>A (p.Asn1333Lys) c.3630C>A (p.Asn1210Lys) n.3999C>A | |
13 | g.32338354C= | CA2082822765 | BRCA2 | c.3999C= (p.Asn1333=) c.3630C= (p.Asn1210=) n.3999C= | |
13 | g.32338354C>G | CA019346 | BRCA2 | c.3999C>G (p.Asn1333Lys) c.3630C>G (p.Asn1210Lys) n.3999C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338354C>T | CA483438014 | BRCA2 | c.3999C>T (p.Asn1333=) c.3630C>T (p.Asn1210=) n.3999C>T | ClinVar gnomAD v4 |
13 | g.32338354_32338356delinsCTT | CA2082822773 | BRCA2 | c.3999_4001delinsCTT (p.Asn1333=) c.3630_3632delinsCTT (p.Asn1210=) n.3999_4001delinsCTT | |
13 | g.32338355T>A | CA387778992 | BRCA2 | c.4000T>A (p.Leu1334Ile) c.3631T>A (p.Leu1211Ile) n.4000T>A | dbSNP |
13 | g.32338355T>C | CA483438017 | BRCA2 | c.4000T>C (p.Leu1334=) c.3631T>C (p.Leu1211=) n.4000T>C | ClinVar dbSNP |
13 | g.32338355T>G | CA387778993 | BRCA2 | c.4000T>G (p.Leu1334Val) c.3631T>G (p.Leu1211Val) n.4000T>G | COSMIC COSMIC |
13 | g.32338355_32338356del | CA019371 | BRCA2 | c.4000_4001del (p.Leu1334ArgfsTer3) c.3631_3632del (p.Leu1211ArgfsTer3) n.4000_4001del | ClinVar dbSNP |
13 | g.32338357_32338362del | CA2825002134 | BRCA2 | c.4002_4007del (p.Leu1334_Glu1335del) c.3633_3638del (p.Leu1211_Glu1212del) n.4002_4007del | ClinVar |
13 | g.32338356T>A | CA019375 | BRCA2 | c.4001T>A (p.Leu1334Ter) c.3632T>A (p.Leu1211Ter) n.4001T>A | ClinVar dbSNP |
13 | g.32338356T>C | CA387778994 | BRCA2 | c.4001T>C (p.Leu1334Ser) c.3632T>C (p.Leu1211Ser) n.4001T>C | |
13 | g.32338356T>G | CA387778995 | BRCA2 | c.4001T>G (p.Leu1334Ter) c.3632T>G (p.Leu1211Ter) n.4001T>G | |
13 | g.32338356T= | CA2082822789 | BRCA2 | c.4001T= (p.Leu1334=) c.3632T= (p.Leu1211=) n.4001T= | |
13 | g.32338357A>C | CA387778996 | BRCA2 | c.4002A>C (p.Leu1334Phe) c.3633A>C (p.Leu1211Phe) n.4002A>C | |
13 | g.32338357A>G | CA483438018 | BRCA2 | c.4002A>G (p.Leu1334=) c.3633A>G (p.Leu1211=) n.4002A>G | dbSNP |
13 | g.32338357A>T | CA387778997 | BRCA2 | c.4002A>T (p.Leu1334Phe) c.3633A>T (p.Leu1211Phe) n.4002A>T | dbSNP |
13 | g.32338358G>A | CA387778998 | BRCA2 | c.4003G>A (p.Glu1335Lys) c.3634G>A (p.Glu1212Lys) n.4003G>A | |
13 | g.32338358G>C | CA387778999 | BRCA2 | c.4003G>C (p.Glu1335Gln) c.3634G>C (p.Glu1212Gln) n.4003G>C | |
13 | g.32338358G= | CA2082822803 | BRCA2 | c.4003G= (p.Glu1335=) c.3634G= (p.Glu1212=) n.4003G= | |
13 | g.32338358G>T | CA6940739 | BRCA2 | c.4003G>T (p.Glu1335Ter) c.3634G>T (p.Glu1212Ter) n.4003G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338359A= | CA2082822831 | BRCA2 | c.4004A= (p.Glu1335=) c.3635A= (p.Glu1212=) n.4004A= | |
13 | g.32338359A>C | CA387779002 | BRCA2 | c.4004A>C (p.Glu1335Ala) c.3635A>C (p.Glu1212Ala) n.4004A>C | |
13 | g.32338359A>G | CA387779000 | BRCA2 | c.4004A>G (p.Glu1335Gly) c.3635A>G (p.Glu1212Gly) n.4004A>G | ClinVar dbSNP |
13 | g.32338359A>T | CA387779001 | BRCA2 | c.4004A>T (p.Glu1335Val) c.3635A>T (p.Glu1212Val) n.4004A>T | dbSNP |
13 | g.32338360dup | CA019378 | BRCA2 | c.4005dup (p.Phe1336IlefsTer2) c.3636dup (p.Phe1213IlefsTer2) n.4005dup | ClinVar dbSNP |
13 | g.32338360A= | CA2082822841 | BRCA2 | c.4005A= (p.Glu1335=) c.3636A= (p.Glu1212=) n.4005A= | |
13 | g.32338360A>C | CA387779003 | BRCA2 | c.4005A>C (p.Glu1335Asp) c.3636A>C (p.Glu1212Asp) n.4005A>C | |
13 | g.32338360A>G | CA483438021 | BRCA2 | c.4005A>G (p.Glu1335=) c.3636A>G (p.Glu1212=) n.4005A>G | |
13 | g.32338360A>T | CA387779004 | BRCA2 | c.4005A>T (p.Glu1335Asp) c.3636A>T (p.Glu1212Asp) n.4005A>T | |
13 | g.32338361T>A | CA387779005 | BRCA2 | c.4006T>A (p.Phe1336Ile) c.3637T>A (p.Phe1213Ile) n.4006T>A | dbSNP |
13 | g.32338361T>C | CA387779006 | BRCA2 | c.4006T>C (p.Phe1336Leu) c.3637T>C (p.Phe1213Leu) n.4006T>C | dbSNP |
13 | g.32338361T>G | CA387779007 | BRCA2 | c.4006T>G (p.Phe1336Val) c.3637T>G (p.Phe1213Val) n.4006T>G | |
13 | g.32338361T= | CA2082822847 | BRCA2 | c.4006T= (p.Phe1336=) c.3637T= (p.Phe1213=) n.4006T= | |
13 | g.32338361_32338405dup | CA913188559 | BRCA2 | c.4006_4050dup (p.His1350_Lys1351insPheAspGlySerAspSerSerLysAsnAspThrValCysIleHis) c.3637_3681dup (p.His1227_Lys1228insPheAspGlySerAspSerSerLysAsnAspThrValCysIleHis) n.4006_4050dup | ClinVar dbSNP |
13 | g.32338361_32338362insA | CA019385 | BRCA2 | c.4006_4007insA (p.Phe1336TyrfsTer2) c.3637_3638insA (p.Phe1213TyrfsTer2) n.4006_4007insA | ClinVar dbSNP |
13 | g.32338361_32338362insCATC | CA658823560 | BRCA2 | c.4006_4007insCATC (p.Phe1336SerfsTer3) c.3637_3638insCATC (p.Phe1213SerfsTer3) n.4006_4007insCATC | ClinVar dbSNP |
13 | g.32338362T>A | CA387779008 | BRCA2 | c.4007T>A (p.Phe1336Tyr) c.3638T>A (p.Phe1213Tyr) n.4007T>A | ClinVar dbSNP |
13 | g.32338362T>C | CA6940740 | BRCA2 | c.4007T>C (p.Phe1336Ser) c.3638T>C (p.Phe1213Ser) n.4007T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338362T>G | CA387779009 | BRCA2 | c.4007T>G (p.Phe1336Cys) c.3638T>G (p.Phe1213Cys) n.4007T>G | |
13 | g.32338362T= | CA2082822872 | BRCA2 | c.4007T= (p.Phe1336=) c.3638T= (p.Phe1213=) n.4007T= | |
13 | g.32338362_32338363insCATC | CA10583098 | BRCA2 | c.4007_4008insCATC (p.Asp1337IlefsTer2) c.3638_3639insCATC (p.Asp1214IlefsTer2) n.4007_4008insCATC | ClinVar dbSNP gnomAD v4 |
13 | g.32338363T>A | CA387779010 | BRCA2 | c.4008T>A (p.Phe1336Leu) c.3639T>A (p.Phe1213Leu) n.4008T>A | |
13 | g.32338363T>C | CA483438025 | BRCA2 | c.4008T>C (p.Phe1336=) c.3639T>C (p.Phe1213=) n.4008T>C | ClinVar dbSNP |
13 | g.32338363T>G | CA387779011 | BRCA2 | c.4008T>G (p.Phe1336Leu) c.3639T>G (p.Phe1213Leu) n.4008T>G | |
13 | g.32338363T= | CA2082822884 | BRCA2 | c.4008T= (p.Phe1336=) c.3639T= (p.Phe1213=) n.4008T= | |
13 | g.32338363_32338364insCATC | CA019388 | BRCA2 | c.4008_4009insCATC (p.Asp1337HisfsTer5) c.3639_3640insCATC (p.Asp1214HisfsTer5) n.4008_4009insCATC | ClinVar dbSNP |
13 | g.32338364G>A | CA387779014 | BRCA2 | c.4009G>A (p.Asp1337Asn) c.3640G>A (p.Asp1214Asn) n.4009G>A | dbSNP |
13 | g.32338364G>C | CA387779013 | BRCA2 | c.4009G>C (p.Asp1337His) c.3640G>C (p.Asp1214His) n.4009G>C | dbSNP |
13 | g.32338364G>T | CA387779012 | BRCA2 | c.4009G>T (p.Asp1337Tyr) c.3640G>T (p.Asp1214Tyr) n.4009G>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338365A= | CA2082822905 | BRCA2 | c.4010A= (p.Asp1337=) c.3641A= (p.Asp1214=) n.4010A= | |
13 | g.32338365A>C | CA387779015 | BRCA2 | c.4010A>C (p.Asp1337Ala) c.3641A>C (p.Asp1214Ala) n.4010A>C | ClinVar |
13 | g.32338365A>G | CA387779016 | BRCA2 | c.4010A>G (p.Asp1337Gly) c.3641A>G (p.Asp1214Gly) n.4010A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338365A>T | CA387779017 | BRCA2 | c.4010A>T (p.Asp1337Val) c.3641A>T (p.Asp1214Val) n.4010A>T | ClinVar dbSNP |
13 | g.32338366T>A | CA387779018 | BRCA2 | c.4011T>A (p.Asp1337Glu) c.3642T>A (p.Asp1214Glu) n.4011T>A | |
13 | g.32338366T>C | CA483438028 | BRCA2 | c.4011T>C (p.Asp1337=) c.3642T>C (p.Asp1214=) n.4011T>C | gnomAD v4 |
13 | g.32338366T>G | CA387779019 | BRCA2 | c.4011T>G (p.Asp1337Glu) c.3642T>G (p.Asp1214Glu) n.4011T>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338366T= | CA2082822918 | BRCA2 | c.4011T= (p.Asp1337=) c.3642T= (p.Asp1214=) n.4011T= | |
13 | g.32338366_32338367delinsTG | CA2082822911 | BRCA2 | c.4011_4012delinsTG (p.Asp1337=) c.3642_3643delinsTG (p.Asp1214=) n.4011_4012delinsTG | |
13 | g.32338367G>A | CA387779020 | BRCA2 | c.4012G>A (p.Gly1338Ser) c.3643G>A (p.Gly1215Ser) n.4012G>A | ClinVar dbSNP |
13 | g.32338367G>C | CA387779021 | BRCA2 | c.4012G>C (p.Gly1338Arg) c.3643G>C (p.Gly1215Arg) n.4012G>C | dbSNP |
13 | g.32338367G= | CA2082822933 | BRCA2 | c.4012G= (p.Gly1338=) c.3643G= (p.Gly1215=) n.4012G= | |
13 | g.32338367G>T | CA387779022 | BRCA2 | c.4012G>T (p.Gly1338Cys) c.3643G>T (p.Gly1215Cys) n.4012G>T | dbSNP gnomAD v4 |
13 | g.32338367_32338368dup | CA658823561 | BRCA2 | c.4012_4013dup (p.Ser1339AlafsTer?) c.3643_3644dup (p.Ser1216AlafsTer?) n.4012_4013dup | ClinVar dbSNP |
13 | g.32338368del | CA019392 | BRCA2 | c.4013del (p.Gly1338AlafsTer?) c.3644del (p.Gly1215AlafsTer?) n.4013del | ClinVar dbSNP |
13 | g.32338367_32338369delinsGGC | CA2082822942 | BRCA2 | c.4012_4014delinsGGC (p.Gly1338=) c.3643_3645delinsGGC (p.Gly1215=) n.4012_4014delinsGGC | |
13 | g.32338368G>A | CA387779023 | BRCA2 | c.4013G>A (p.Gly1338Asp) c.3644G>A (p.Gly1215Asp) n.4013G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32338368G>C | CA387779024 | BRCA2 | c.4013G>C (p.Gly1338Ala) c.3644G>C (p.Gly1215Ala) n.4013G>C | dbSNP |
13 | g.32338368G>T | CA387779025 | BRCA2 | c.4013G>T (p.Gly1338Val) c.3644G>T (p.Gly1215Val) n.4013G>T | ClinVar dbSNP |
13 | g.32338368_32338369del | CA658656332 | BRCA2 | c.4013_4014del (p.Gly1338GlufsTer2) c.3644_3645del (p.Gly1215GlufsTer2) n.4013_4014del | ClinVar dbSNP |
13 | g.32338369C>A | CA483438036 | BRCA2 | c.4014C>A (p.Gly1338=) c.3645C>A (p.Gly1215=) n.4014C>A | dbSNP gnomAD v4 |
13 | g.32338369C= | CA2082822955 | BRCA2 | c.4014C= (p.Gly1338=) c.3645C= (p.Gly1215=) n.4014C= | |
13 | g.32338369C>G | CA483438033 | BRCA2 | c.4014C>G (p.Gly1338=) c.3645C>G (p.Gly1215=) n.4014C>G | dbSNP |
13 | g.32338369C>T | CA483438035 | BRCA2 | c.4014C>T (p.Gly1338=) c.3645C>T (p.Gly1215=) n.4014C>T | ClinVar dbSNP gnomAD v4 COSMIC |
13 | g.32338369_32338370insGG | CA019398 | BRCA2 | c.4014_4015insGG (p.Ser1339GlyfsTer?) c.3645_3646insGG (p.Ser1216GlyfsTer?) n.4014_4015insGG | ClinVar dbSNP |
13 | g.32338370A>C | CA387779028 | BRCA2 | c.4015A>C (p.Ser1339Arg) c.3646A>C (p.Ser1216Arg) n.4015A>C | ClinVar |
13 | g.32338370A>G | CA387779026 | BRCA2 | c.4015A>G (p.Ser1339Gly) c.3646A>G (p.Ser1216Gly) n.4015A>G | |
13 | g.32338370A>T | CA387779027 | BRCA2 | c.4015A>T (p.Ser1339Cys) c.3646A>T (p.Ser1216Cys) n.4015A>T | dbSNP |
13 | g.32338371G>A | CA387779029 | BRCA2 | c.4016G>A (p.Ser1339Asn) c.3647G>A (p.Ser1216Asn) n.4016G>A | dbSNP gnomAD v4 |
13 | g.32338371G>C | CA387779030 | BRCA2 | c.4016G>C (p.Ser1339Thr) c.3647G>C (p.Ser1216Thr) n.4016G>C | dbSNP |
13 | g.32338371G>T | CA387779031 | BRCA2 | c.4016G>T (p.Ser1339Ile) c.3647G>T (p.Ser1216Ile) n.4016G>T | ClinVar dbSNP |
13 | g.32338372T>A | CA387779032 | BRCA2 | c.4017T>A (p.Ser1339Arg) c.3648T>A (p.Ser1216Arg) n.4017T>A | dbSNP |
13 | g.32338372T>C | CA483438102 | BRCA2 | c.4017T>C (p.Ser1339=) c.3648T>C (p.Ser1216=) n.4017T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32338372T>G | CA387779033 | BRCA2 | c.4017T>G (p.Ser1339Arg) c.3648T>G (p.Ser1216Arg) n.4017T>G | ClinVar dbSNP |
13 | g.32338372T= | CA2082822966 | BRCA2 | c.4017T= (p.Ser1339=) c.3648T= (p.Ser1216=) n.4017T= | |
13 | g.32338373G>A | CA387779036 | BRCA2 | c.4018G>A (p.Asp1340Asn) c.3649G>A (p.Asp1217Asn) n.4018G>A | dbSNP |
13 | g.32338373G>C | CA387779034 | BRCA2 | c.4018G>C (p.Asp1340His) c.3649G>C (p.Asp1217His) n.4018G>C | dbSNP |
13 | g.32338373G>T | CA387779035 | BRCA2 | c.4018G>T (p.Asp1340Tyr) c.3649G>T (p.Asp1217Tyr) n.4018G>T | gnomAD v4 |
13 | g.32338374A= | CA2082822988 | BRCA2 | c.4019A= (p.Asp1340=) c.3650A= (p.Asp1217=) n.4019A= | |
13 | g.32338374A>C | CA387779037 | BRCA2 | c.4019A>C (p.Asp1340Ala) c.3650A>C (p.Asp1217Ala) n.4019A>C | ClinVar dbSNP |
13 | g.32338374A>G | CA387779038 | BRCA2 | c.4019A>G (p.Asp1340Gly) c.3650A>G (p.Asp1217Gly) n.4019A>G | ClinVar dbSNP |
13 | g.32338374A>T | CA387779039 | BRCA2 | c.4019A>T (p.Asp1340Val) c.3650A>T (p.Asp1217Val) n.4019A>T | ClinVar dbSNP |
13 | g.32338374_32338375delinsAT | CA2082822977 | BRCA2 | c.4019_4020delinsAT (p.Asp1340=) c.3650_3651delinsAT (p.Asp1217=) n.4019_4020delinsAT | |
13 | g.32338375T>A | CA387779040 | BRCA2 | c.4020T>A (p.Asp1340Glu) c.3651T>A (p.Asp1217Glu) n.4020T>A | dbSNP |
13 | g.32338375T>C | CA483438104 | BRCA2 | c.4020T>C (p.Asp1340=) c.3651T>C (p.Asp1217=) n.4020T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32338375T>G | CA387779041 | BRCA2 | c.4020T>G (p.Asp1340Glu) c.3651T>G (p.Asp1217Glu) n.4020T>G | dbSNP gnomAD v4 |
13 | g.32338375T= | CA2082823004 | BRCA2 | c.4020T= (p.Asp1340=) c.3651T= (p.Asp1217=) n.4020T= | |
13 | g.32338376dup | CA10589237 | BRCA2 | c.4021dup (p.Ser1341PhefsTer3) c.3652dup (p.Ser1218PhefsTer3) n.4021dup | ClinVar dbSNP |
13 | g.32338376del | CA019401 | BRCA2 | c.4021del (p.Ser1341GlnfsTer?) c.3652del (p.Ser1218GlnfsTer?) n.4021del | ClinVar dbSNP |
13 | g.32338376T>A | CA387779042 | BRCA2 | c.4021T>A (p.Ser1341Thr) c.3652T>A (p.Ser1218Thr) n.4021T>A | dbSNP |
13 | g.32338376T>C | CA387779043 | BRCA2 | c.4021T>C (p.Ser1341Pro) c.3652T>C (p.Ser1218Pro) n.4021T>C | ClinVar dbSNP |
13 | g.32338376T>G | CA387779044 | BRCA2 | c.4021T>G (p.Ser1341Ala) c.3652T>G (p.Ser1218Ala) n.4021T>G | |
13 | g.32338377del | CA2580087236 | BRCA2 | c.4022del (p.Ser1341Ter) c.3653del (p.Ser1218Ter) n.4022del | ClinVar |
13 | g.32338377C>A | CA387779046 | BRCA2 | c.4022C>A (p.Ser1341Ter) c.3653C>A (p.Ser1218Ter) n.4022C>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338377C= | CA2082823011 | BRCA2 | c.4022C= (p.Ser1341=) c.3653C= (p.Ser1218=) n.4022C= | |
13 | g.32338377C>G | CA387779045 | BRCA2 | c.4022C>G (p.Ser1341Ter) c.3653C>G (p.Ser1218Ter) n.4022C>G | ClinVar dbSNP COSMIC COSMIC |
13 | g.32338377C>T | CA387779047 | BRCA2 | c.4022C>T (p.Ser1341Leu) c.3653C>T (p.Ser1218Leu) n.4022C>T | dbSNP |
13 | g.32338378A= | CA2082823021 | BRCA2 | c.4023A= (p.Ser1341=) c.3654A= (p.Ser1218=) n.4023A= | |
13 | g.32338378A>C | CA019406 | BRCA2 | c.4023A>C (p.Ser1341=) c.3654A>C (p.Ser1218=) n.4023A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338378A>G | CA483438106 | BRCA2 | c.4023A>G (p.Ser1341=) c.3654A>G (p.Ser1218=) n.4023A>G | dbSNP |
13 | g.32338378A>T | CA483438105 | BRCA2 | c.4023A>T (p.Ser1341=) c.3654A>T (p.Ser1218=) n.4023A>T | dbSNP |
13 | g.32338379A= | CA2082823030 | BRCA2 | c.4024A= (p.Ser1342=) c.3655A= (p.Ser1219=) n.4024A= | |
13 | g.32338379A>C | CA387779049 | BRCA2 | c.4024A>C (p.Ser1342Arg) c.3655A>C (p.Ser1219Arg) n.4024A>C | |
13 | g.32338379A>G | CA16614147 | BRCA2 | c.4024A>G (p.Ser1342Gly) c.3655A>G (p.Ser1219Gly) n.4024A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338379A>T | CA387779048 | BRCA2 | c.4024A>T (p.Ser1342Cys) c.3655A>T (p.Ser1219Cys) n.4024A>T | dbSNP |
13 | g.32338380G>A | CA387779050 | BRCA2 | c.4025G>A (p.Ser1342Asn) c.3656G>A (p.Ser1219Asn) n.4025G>A | ClinVar dbSNP |
13 | g.32338380G>C | CA387779051 | BRCA2 | c.4025G>C (p.Ser1342Thr) c.3656G>C (p.Ser1219Thr) n.4025G>C | dbSNP |
13 | g.32338380G= | CA2082823042 | BRCA2 | c.4025G= (p.Ser1342=) c.3656G= (p.Ser1219=) n.4025G= | |
13 | g.32338380G>T | CA387779052 | BRCA2 | c.4025G>T (p.Ser1342Ile) c.3656G>T (p.Ser1219Ile) n.4025G>T | ClinVar dbSNP |
13 | g.32338381del | CA2499222151 | BRCA2 | c.4026del (p.Ser1342ArgfsTer?) c.3657del (p.Ser1219ArgfsTer?) n.4026del | ClinVar dbSNP |
13 | g.32338381T>A | CA387779053 | BRCA2 | c.4026T>A (p.Ser1342Arg) c.3657T>A (p.Ser1219Arg) n.4026T>A | |
13 | g.32338381T>C | CA483438107 | BRCA2 | c.4026T>C (p.Ser1342=) c.3657T>C (p.Ser1219=) n.4026T>C | |
13 | g.32338381T>G | CA387779054 | BRCA2 | c.4026T>G (p.Ser1342Arg) c.3657T>G (p.Ser1219Arg) n.4026T>G | |
13 | g.32338381_32338382delinsTA | CA2082823057 | BRCA2 | c.4026_4027delinsTA (p.Ser1342=) c.3657_3658delinsTA (p.Ser1219=) n.4026_4027delinsTA | |
13 | g.32338382A= | CA2082823072 | BRCA2 | c.4027A= (p.Lys1343=) c.3658A= (p.Lys1220=) n.4027A= | |
13 | g.32338382A>C | CA387779055 | BRCA2 | c.4027A>C (p.Lys1343Gln) c.3658A>C (p.Lys1220Gln) n.4027A>C | |
13 | g.32338382A>G | CA019411 | BRCA2 | c.4027A>G (p.Lys1343Glu) c.3658A>G (p.Lys1220Glu) n.4027A>G | ClinVar dbSNP |
13 | g.32338382A>T | CA387779056 | BRCA2 | c.4027A>T (p.Lys1343Ter) c.3658A>T (p.Lys1220Ter) n.4027A>T | dbSNP |
13 | g.32338386del | CA609453792 | BRCA2 | c.4031del (p.Asn1344MetfsTer30) c.3662del (p.Asn1221MetfsTer30) n.4031del | ClinVar dbSNP gnomAD v2 |
13 | g.32338383A>C | CA387779057 | BRCA2 | c.4028A>C (p.Lys1343Thr) c.3659A>C (p.Lys1220Thr) n.4028A>C | |
13 | g.32338383A>G | CA387779058 | BRCA2 | c.4028A>G (p.Lys1343Arg) c.3659A>G (p.Lys1220Arg) n.4028A>G | ClinVar |
13 | g.32338383A>T | CA387779059 | BRCA2 | c.4028A>T (p.Lys1343Ile) c.3659A>T (p.Lys1220Ile) n.4028A>T | dbSNP |
13 | g.32338383_32338388delinsAAAATG | CA2082823080 | BRCA2 | c.4028_4033delinsAAAATG (p.Lys1343=) c.3659_3664delinsAAAATG (p.Lys1220=) n.4028_4033delinsAAAATG | |
13 | g.32338384A>C | CA387779061 | BRCA2 | c.4029A>C (p.Lys1343Asn) c.3660A>C (p.Lys1220Asn) n.4029A>C | |
13 | g.32338384A>G | CA483438108 | BRCA2 | c.4029A>G (p.Lys1343=) c.3660A>G (p.Lys1220=) n.4029A>G | |
13 | g.32338384A>T | CA387779060 | BRCA2 | c.4029A>T (p.Lys1343Asn) c.3660A>T (p.Lys1220Asn) n.4029A>T | ClinVar dbSNP |
13 | g.32338385_32338389del | CA915948458 | BRCA2 | c.4030_4034del (p.Asn1344TyrfsTer6) c.3661_3665del (p.Asn1221TyrfsTer6) n.4030_4034del | ClinVar dbSNP |
13 | g.32338384_32338390delinsAAATGAT | CA2082823090 | BRCA2 | c.4029_4035delinsAAATGAT (p.Lys1343=) c.3660_3666delinsAAATGAT (p.Lys1220=) n.4029_4035delinsAAATGAT | |
13 | g.32338385A>C | CA387779062 | BRCA2 | c.4030A>C (p.Asn1344His) c.3661A>C (p.Asn1221His) n.4030A>C | |
13 | g.32338385A>G | CA387779063 | BRCA2 | c.4030A>G (p.Asn1344Asp) c.3661A>G (p.Asn1221Asp) n.4030A>G | |
13 | g.32338385A>T | CA387779064 | BRCA2 | c.4030A>T (p.Asn1344Tyr) c.3661A>T (p.Asn1221Tyr) n.4030A>T | dbSNP |
13 | g.32338385_32338388delinsAATG | CA2082823098 | BRCA2 | c.4030_4033delinsAATG (p.Asn1344=) c.3661_3664delinsAATG (p.Asn1221=) n.4030_4033delinsAATG | |
13 | g.32338385_32338390delinsC | CA10589238 | BRCA2 | c.4030_4035delinsC (p.Asn1344HisfsTer6) c.3661_3666delinsC (p.Asn1221HisfsTer6) n.4030_4035delinsC | ClinVar dbSNP |
13 | g.32338386A= | CA2082823111 | BRCA2 | c.4031A= (p.Asn1344=) c.3662A= (p.Asn1221=) n.4031A= | |
13 | g.32338386A>C | CA387779065 | BRCA2 | c.4031A>C (p.Asn1344Thr) c.3662A>C (p.Asn1221Thr) n.4031A>C | ClinVar dbSNP gnomAD v4 |
13 | g.32338386A>G | CA387779066 | BRCA2 | c.4031A>G (p.Asn1344Ser) c.3662A>G (p.Asn1221Ser) n.4031A>G | ClinVar |
13 | g.32338386A>T | CA387779067 | BRCA2 | c.4031A>T (p.Asn1344Ile) c.3662A>T (p.Asn1221Ile) n.4031A>T | dbSNP |
13 | g.32338388_32338390del | CA10579599 | BRCA2 | c.4033_4035del (p.Asp1345del) c.3664_3666del (p.Asp1222del) n.4033_4035del | ClinVar dbSNP |
13 | g.32338387T>A | CA387779068 | BRCA2 | c.4032T>A (p.Asn1344Lys) c.3663T>A (p.Asn1221Lys) n.4032T>A | dbSNP |
13 | g.32338387T>C | CA483438112 | BRCA2 | c.4032T>C (p.Asn1344=) c.3663T>C (p.Asn1221=) n.4032T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32338387T>G | CA387779069 | BRCA2 | c.4032T>G (p.Asn1344Lys) c.3663T>G (p.Asn1221Lys) n.4032T>G | ClinVar dbSNP |
13 | g.32338387T= | CA2082823120 | BRCA2 | c.4032T= (p.Asn1344=) c.3663T= (p.Asn1221=) n.4032T= | |
13 | g.32338388G>A | CA387779070 | BRCA2 | c.4033G>A (p.Asp1345Asn) c.3664G>A (p.Asp1222Asn) n.4033G>A | ClinVar dbSNP |
13 | g.32338388G>C | CA387779071 | BRCA2 | c.4033G>C (p.Asp1345His) c.3664G>C (p.Asp1222His) n.4033G>C | ClinVar dbSNP gnomAD v4 |
13 | g.32338388G= | CA2082823135 | BRCA2 | c.4033G= (p.Asp1345=) c.3664G= (p.Asp1222=) n.4033G= | |
13 | g.32338388G>T | CA387779072 | BRCA2 | c.4033G>T (p.Asp1345Tyr) c.3664G>T (p.Asp1222Tyr) n.4033G>T | ClinVar dbSNP |
13 | g.32338389del | CA2580087237 | BRCA2 | c.4034del (p.Asp1345ValfsTer29) c.3665del (p.Asp1222ValfsTer29) n.4034del | ClinVar |
13 | g.32338389A>C | CA387779073 | BRCA2 | c.4034A>C (p.Asp1345Ala) c.3665A>C (p.Asp1222Ala) n.4034A>C | |
13 | g.32338389A>G | CA387779075 | BRCA2 | c.4034A>G (p.Asp1345Gly) c.3665A>G (p.Asp1222Gly) n.4034A>G | ClinVar dbSNP |
13 | g.32338389A>T | CA387779074 | BRCA2 | c.4034A>T (p.Asp1345Val) c.3665A>T (p.Asp1222Val) n.4034A>T | dbSNP |
13 | g.32338390T>A | CA387779076 | BRCA2 | c.4035T>A (p.Asp1345Glu) c.3666T>A (p.Asp1222Glu) n.4035T>A | dbSNP gnomAD v2 |
13 | g.32338390T>C | CA483438115 | BRCA2 | c.4035T>C (p.Asp1345=) c.3666T>C (p.Asp1222=) n.4035T>C | ClinVar dbSNP |
13 | g.32338390T>G | CA387779077 | BRCA2 | c.4035T>G (p.Asp1345Glu) c.3666T>G (p.Asp1222Glu) n.4035T>G | dbSNP |
13 | g.32338390T= | CA2082823143 | BRCA2 | c.4035T= (p.Asp1345=) c.3666T= (p.Asp1222=) n.4035T= | |
13 | g.32338390_32338393dup | CA2580087238 | BRCA2 | c.4035_4038dup (p.Val1347TyrfsTer6) c.3666_3669dup (p.Val1224TyrfsTer6) n.4035_4038dup | ClinVar |
13 | g.32338391A>C | CA387779078 | BRCA2 | c.4036A>C (p.Thr1346Pro) c.3667A>C (p.Thr1223Pro) n.4036A>C | dbSNP |
13 | g.32338391A>G | CA387779079 | BRCA2 | c.4036A>G (p.Thr1346Ala) c.3667A>G (p.Thr1223Ala) n.4036A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338391A>T | CA387779080 | BRCA2 | c.4036A>T (p.Thr1346Ser) c.3667A>T (p.Thr1223Ser) n.4036A>T | dbSNP |
13 | g.32338391dup | CA2573149362 | BRCA2 | c.4036dup (p.Thr1346AsnfsTer6) c.3667dup (p.Thr1223AsnfsTer6) n.4036dup | ClinVar dbSNP |
13 | g.32338391_32338392delinsAC | CA2082823154 | BRCA2 | c.4036_4037delinsAC (p.Thr1346=) c.3667_3668delinsAC (p.Thr1223=) n.4036_4037delinsAC | |
13 | g.32338391_32338393delinsACT | CA2082823148 | BRCA2 | c.4036_4038delinsACT (p.Thr1346=) c.3667_3669delinsACT (p.Thr1223=) n.4036_4038delinsACT | |
13 | g.32338391_32338397delinsACTGTTT | CA2082823150 | BRCA2 | c.4036_4042delinsACTGTTT (p.Thr1346=) c.3667_3673delinsACTGTTT (p.Thr1223=) n.4036_4042delinsACTGTTT | |
13 | g.32338391_32338398delinsACTGTTTG | CA2082823155 | BRCA2 | c.4036_4043delinsACTGTTTG (p.Thr1346=) c.3667_3674delinsACTGTTTG (p.Thr1223=) n.4036_4043delinsACTGTTTG | |
13 | g.32338392del | CA609453793 | BRCA2 | c.4037del (p.Thr1346MetfsTer28) c.3668del (p.Thr1223MetfsTer28) n.4037del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338392C>A | CA387779081 | BRCA2 | c.4037C>A (p.Thr1346Asn) c.3668C>A (p.Thr1223Asn) n.4037C>A | ClinVar dbSNP |
13 | g.32338392C= | CA2082823175 | BRCA2 | c.4037C= (p.Thr1346=) c.3668C= (p.Thr1223=) n.4037C= | |
13 | g.32338392C>G | CA387779082 | BRCA2 | c.4037C>G (p.Thr1346Ser) c.3668C>G (p.Thr1223Ser) n.4037C>G | ClinVar dbSNP |
13 | g.32338392C>T | CA387779083 | BRCA2 | c.4037C>T (p.Thr1346Ile) c.3668C>T (p.Thr1223Ile) n.4037C>T | dbSNP |
13 | g.32338392_32338393del | CA019413 | BRCA2 | c.4037_4038del (p.Thr1346SerfsTer5) c.3668_3669del (p.Thr1223SerfsTer5) n.4037_4038del | ClinVar dbSNP ExAC |
13 | g.32338392_32338397del | CA697337039 | BRCA2 | c.4037_4042del (p.Thr1346_Cys1348delinsSer) c.3668_3673del (p.Thr1223_Cys1225delinsSer) n.4037_4042del | dbSNP |
13 | g.32338392_32338398del | CA2580087239 | BRCA2 | c.4037_4043del (p.Thr1346IlefsTer26) c.3668_3674del (p.Thr1223IlefsTer26) n.4037_4043del | ClinVar |
13 | g.32338392_32338398delinsT | CA019417 | BRCA2 | c.4037_4043delinsT (p.Thr1346_Cys1348delinsIle) c.3668_3674delinsT (p.Thr1223_Cys1225delinsIle) n.4037_4043delinsT | ClinVar dbSNP |
13 | g.32338393T>A | CA483438123 | BRCA2 | c.4038T>A (p.Thr1346=) c.3669T>A (p.Thr1223=) n.4038T>A | ClinVar dbSNP |
13 | g.32338393T>C | CA483438120 | BRCA2 | c.4038T>C (p.Thr1346=) c.3669T>C (p.Thr1223=) n.4038T>C | ClinVar |
13 | g.32338393T>G | CA483438121 | BRCA2 | c.4038T>G (p.Thr1346=) c.3669T>G (p.Thr1223=) n.4038T>G | |
13 | g.32338393_32338398delinsTGTTTG | CA2082823192 | BRCA2 | c.4038_4043delinsTGTTTG (p.Thr1346=) c.3669_3674delinsTGTTTG (p.Thr1223=) n.4038_4043delinsTGTTTG | |
13 | g.32338394G>A | CA16614299 | BRCA2 | c.4039G>A (p.Val1347Ile) c.3670G>A (p.Val1224Ile) n.4039G>A | ClinVar dbSNP |
13 | g.32338394G>C | CA019421 | BRCA2 | c.4039G>C (p.Val1347Leu) c.3670G>C (p.Val1224Leu) n.4039G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338394G= | CA2082823199 | BRCA2 | c.4039G= (p.Val1347=) c.3670G= (p.Val1224=) n.4039G= | |
13 | g.32338394G>T | CA387779084 | BRCA2 | c.4039G>T (p.Val1347Phe) c.3670G>T (p.Val1224Phe) n.4039G>T | |
13 | g.32338394_32338396delinsGTT | CA2082823198 | BRCA2 | c.4039_4041delinsGTT (p.Val1347=) c.3670_3672delinsGTT (p.Val1224=) n.4039_4041delinsGTT | |
13 | g.32338394_32338398del | CA609453794 | BRCA2 | c.4039_4043del (p.Val1347TyrfsTer3) c.3670_3674del (p.Val1224TyrfsTer3) n.4039_4043del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338395T>A | CA387779085 | BRCA2 | c.4040T>A (p.Val1347Asp) c.3671T>A (p.Val1224Asp) n.4040T>A | dbSNP |
13 | g.32338395T>C | CA387779087 | BRCA2 | c.4040T>C (p.Val1347Ala) c.3671T>C (p.Val1224Ala) n.4040T>C | dbSNP gnomAD v4 |
13 | g.32338395T>G | CA387779086 | BRCA2 | c.4040T>G (p.Val1347Gly) c.3671T>G (p.Val1224Gly) n.4040T>G | dbSNP |
13 | g.32338397dup | CA10586519 | BRCA2 | c.4042dup (p.Cys1348LeufsTer4) c.3673dup (p.Cys1225LeufsTer4) n.4042dup | ClinVar dbSNP |
13 | g.32338397del | CA2499222152 | BRCA2 | c.4042del (p.Cys1348ValfsTer26) c.3673del (p.Cys1225ValfsTer26) n.4042del | ClinVar dbSNP |
13 | g.32338396_32338397del | CA10575918 | BRCA2 | c.4041_4042del (p.Cys1348TyrfsTer3) c.3672_3673del (p.Cys1225TyrfsTer3) n.4041_4042del | ClinVar dbSNP |
13 | g.32338396T>A | CA483438127 | BRCA2 | c.4041T>A (p.Val1347=) c.3672T>A (p.Val1224=) n.4041T>A | dbSNP |
13 | g.32338396T>C | CA483438128 | BRCA2 | c.4041T>C (p.Val1347=) c.3672T>C (p.Val1224=) n.4041T>C | dbSNP |
13 | g.32338396T>G | CA483438129 | BRCA2 | c.4041T>G (p.Val1347=) c.3672T>G (p.Val1224=) n.4041T>G | dbSNP |
13 | g.32338397T>A | CA6940741 | BRCA2 | c.4042T>A (p.Cys1348Ser) c.3673T>A (p.Cys1225Ser) n.4042T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338397T>C | CA387779088 | BRCA2 | c.4042T>C (p.Cys1348Arg) c.3673T>C (p.Cys1225Arg) n.4042T>C | ClinVar dbSNP |
13 | g.32338397T>G | CA387779089 | BRCA2 | c.4042T>G (p.Cys1348Gly) c.3673T>G (p.Cys1225Gly) n.4042T>G | |
13 | g.32338397T= | CA2082823218 | BRCA2 | c.4042T= (p.Cys1348=) c.3673T= (p.Cys1225=) n.4042T= | |
13 | g.32338398G>A | CA387779090 | BRCA2 | c.4043G>A (p.Cys1348Tyr) c.3674G>A (p.Cys1225Tyr) n.4043G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338398G>C | CA387779091 | BRCA2 | c.4043G>C (p.Cys1348Ser) c.3674G>C (p.Cys1225Ser) n.4043G>C | dbSNP gnomAD v4 |
13 | g.32338398G= | CA2082823228 | BRCA2 | c.4043G= (p.Cys1348=) c.3674G= (p.Cys1225=) n.4043G= | |
13 | g.32338398G>T | CA387779092 | BRCA2 | c.4043G>T (p.Cys1348Phe) c.3674G>T (p.Cys1225Phe) n.4043G>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338399T>A | CA387779093 | BRCA2 | c.4044T>A (p.Cys1348Ter) c.3675T>A (p.Cys1225Ter) n.4044T>A | dbSNP |
13 | g.32338399T>C | CA6940742 | BRCA2 | c.4044T>C (p.Cys1348=) c.3675T>C (p.Cys1225=) n.4044T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338399T>G | CA387779094 | BRCA2 | c.4044T>G (p.Cys1348Trp) c.3675T>G (p.Cys1225Trp) n.4044T>G | dbSNP |
13 | g.32338399T= | CA2082823242 | BRCA2 | c.4044T= (p.Cys1348=) c.3675T= (p.Cys1225=) n.4044T= | |
13 | g.32338400A= | CA2082823261 | BRCA2 | c.4045A= (p.Ile1349=) c.3676A= (p.Ile1226=) n.4045A= | |
13 | g.32338400A>C | CA387779096 | BRCA2 | c.4045A>C (p.Ile1349Leu) c.3676A>C (p.Ile1226Leu) n.4045A>C | dbSNP |
13 | g.32338400A>G | CA6940743 | BRCA2 | c.4045A>G (p.Ile1349Val) c.3676A>G (p.Ile1226Val) n.4045A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338400A>T | CA387779095 | BRCA2 | c.4045A>T (p.Ile1349Phe) c.3676A>T (p.Ile1226Phe) n.4045A>T | dbSNP |
13 | g.32338400_32338401delinsAT | CA2082823274 | BRCA2 | c.4045_4046delinsAT (p.Ile1349=) c.3676_3677delinsAT (p.Ile1226=) n.4045_4046delinsAT | |
13 | g.32338401T>A | CA387779098 | BRCA2 | c.4046T>A (p.Ile1349Asn) c.3677T>A (p.Ile1226Asn) n.4046T>A | dbSNP |
13 | g.32338401T>C | CA019424 | BRCA2 | c.4046T>C (p.Ile1349Thr) c.3677T>C (p.Ile1226Thr) n.4046T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338401T>G | CA387779097 | BRCA2 | c.4046T>G (p.Ile1349Ser) c.3677T>G (p.Ile1226Ser) n.4046T>G | ClinVar dbSNP |
13 | g.32338401T= | CA2082823301 | BRCA2 | c.4046T= (p.Ile1349=) c.3677T= (p.Ile1226=) n.4046T= | |
13 | g.32338402del | CA919242540 | BRCA2 | c.4047del (p.His1350IlefsTer24) c.3678del (p.His1227IlefsTer24) n.4047del | dbSNP |
13 | g.32338402T>A | CA483438135 | BRCA2 | c.4047T>A (p.Ile1349=) c.3678T>A (p.Ile1226=) n.4047T>A | dbSNP |
13 | g.32338402T>C | CA483438136 | BRCA2 | c.4047T>C (p.Ile1349=) c.3678T>C (p.Ile1226=) n.4047T>C | gnomAD v4 |
13 | g.32338402T>G | CA387779099 | BRCA2 | c.4047T>G (p.Ile1349Met) c.3678T>G (p.Ile1226Met) n.4047T>G | |
13 | g.32338402T= | CA2082823307 | BRCA2 | c.4047T= (p.Ile1349=) c.3678T= (p.Ile1226=) n.4047T= | |
13 | g.32338402_32338406delinsTCATA | CA2082823309 | BRCA2 | c.4047_4051delinsTCATA (p.Ile1349=) c.3678_3682delinsTCATA (p.Ile1226=) n.4047_4051delinsTCATA | |
13 | g.32338403C>A | CA387779100 | BRCA2 | c.4048C>A (p.His1350Asn) c.3679C>A (p.His1227Asn) n.4048C>A | dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32338403C>G | CA387779101 | BRCA2 | c.4048C>G (p.His1350Asp) c.3679C>G (p.His1227Asp) n.4048C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338403C>T | CA387779102 | BRCA2 | c.4048C>T (p.His1350Tyr) c.3679C>T (p.His1227Tyr) n.4048C>T | dbSNP |
13 | g.32338403dup | CA019430 | BRCA2 | c.4048dup (p.His1350ProfsTer2) c.3679dup (p.His1227ProfsTer2) n.4048dup | ClinVar dbSNP |
13 | g.32338403_32338406del | CA019433 | BRCA2 | c.4048_4051del (p.His1350LysfsTer23) c.3679_3682del (p.His1227LysfsTer23) n.4048_4051del | ClinVar dbSNP |
13 | g.32338404A= | CA2082823327 | BRCA2 | c.4049A= (p.His1350=) c.3680A= (p.His1227=) n.4049A= | |
13 | g.32338404A>C | CA387779103 | BRCA2 | c.4049A>C (p.His1350Pro) c.3680A>C (p.His1227Pro) n.4049A>C | ClinVar dbSNP |
13 | g.32338404A>G | CA387779104 | BRCA2 | c.4049A>G (p.His1350Arg) c.3680A>G (p.His1227Arg) n.4049A>G | ClinVar dbSNP |
13 | g.32338404A>T | CA387779105 | BRCA2 | c.4049A>T (p.His1350Leu) c.3680A>T (p.His1227Leu) n.4049A>T | |
13 | g.32338405T>A | CA387779106 | BRCA2 | c.4050T>A (p.His1350Gln) c.3681T>A (p.His1227Gln) n.4050T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338405T>C | CA483438139 | BRCA2 | c.4050T>C (p.His1350=) c.3681T>C (p.His1227=) n.4050T>C | ClinVar |
13 | g.32338405T>G | CA387779107 | BRCA2 | c.4050T>G (p.His1350Gln) c.3681T>G (p.His1227Gln) n.4050T>G | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338405T= | CA2082823343 | BRCA2 | c.4050T= (p.His1350=) c.3681T= (p.His1227=) n.4050T= | |
13 | g.32338405dup | CA2582341840 | BRCA2 | c.4050dup (p.Lys1351Ter) c.3681dup (p.Lys1228Ter) n.4050dup | ClinVar |
13 | g.32338406A= | CA2082823350 | BRCA2 | c.4051A= (p.Lys1351=) c.3682A= (p.Lys1228=) n.4051A= | |
13 | g.32338406A>C | CA387779108 | BRCA2 | c.4051A>C (p.Lys1351Gln) c.3682A>C (p.Lys1228Gln) n.4051A>C | |
13 | g.32338406A>G | CA387779109 | BRCA2 | c.4051A>G (p.Lys1351Glu) c.3682A>G (p.Lys1228Glu) n.4051A>G | dbSNP |
13 | g.32338406A>T | CA10589239 | BRCA2 | c.4051A>T (p.Lys1351Ter) c.3682A>T (p.Lys1228Ter) n.4051A>T | ClinVar dbSNP |
13 | g.32338407A>C | CA387779110 | BRCA2 | c.4052A>C (p.Lys1351Thr) c.3683A>C (p.Lys1228Thr) n.4052A>C | ClinVar |
13 | g.32338407A>G | CA387779111 | BRCA2 | c.4052A>G (p.Lys1351Arg) c.3683A>G (p.Lys1228Arg) n.4052A>G | |
13 | g.32338407A>T | CA387779112 | BRCA2 | c.4052A>T (p.Lys1351Ile) c.3683A>T (p.Lys1228Ile) n.4052A>T | dbSNP |
13 | g.32338408A>C | CA387779113 | BRCA2 | c.4053A>C (p.Lys1351Asn) c.3684A>C (p.Lys1228Asn) n.4053A>C | ClinVar |
13 | g.32338408A>G | CA483438141 | BRCA2 | c.4053A>G (p.Lys1351=) c.3684A>G (p.Lys1228=) n.4053A>G | ClinVar |
13 | g.32338408A>T | CA387779114 | BRCA2 | c.4053A>T (p.Lys1351Asn) c.3684A>T (p.Lys1228Asn) n.4053A>T | |
13 | g.32338409G>A | CA387779116 | BRCA2 | c.4054G>A (p.Asp1352Asn) c.3685G>A (p.Asp1229Asn) n.4054G>A | ClinVar dbSNP |
13 | g.32338409G>C | CA387779115 | BRCA2 | c.4054G>C (p.Asp1352His) c.3685G>C (p.Asp1229His) n.4054G>C | dbSNP |
13 | g.32338409G= | CA2082823360 | BRCA2 | c.4054G= (p.Asp1352=) c.3685G= (p.Asp1229=) n.4054G= | |
13 | g.32338409G>T | CA019440 | BRCA2 | c.4054G>T (p.Asp1352Tyr) c.3685G>T (p.Asp1229Tyr) n.4054G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
13 | g.32338410A>C | CA387779117 | BRCA2 | c.4055A>C (p.Asp1352Ala) c.3686A>C (p.Asp1229Ala) n.4055A>C | |
13 | g.32338410A>G | CA387779118 | BRCA2 | c.4055A>G (p.Asp1352Gly) c.3686A>G (p.Asp1229Gly) n.4055A>G | gnomAD v4 |
13 | g.32338410A>T | CA387779119 | BRCA2 | c.4055A>T (p.Asp1352Val) c.3686A>T (p.Asp1229Val) n.4055A>T | dbSNP |
13 | g.32338411T>A | CA387779120 | BRCA2 | c.4056T>A (p.Asp1352Glu) c.3687T>A (p.Asp1229Glu) n.4056T>A | dbSNP |
13 | g.32338411T>C | CA483438143 | BRCA2 | c.4056T>C (p.Asp1352=) c.3687T>C (p.Asp1229=) n.4056T>C | dbSNP |
13 | g.32338411T>G | CA387779121 | BRCA2 | c.4056T>G (p.Asp1352Glu) c.3687T>G (p.Asp1229Glu) n.4056T>G | |
13 | g.32338411_32338412delinsTG | CA2082823393 | BRCA2 | c.4056_4057delinsTG (p.Asp1352=) c.3687_3688delinsTG (p.Asp1229=) n.4056_4057delinsTG | |
13 | g.32338411_32338416delinsTGAAAC | CA2082823376 | BRCA2 | c.4056_4061delinsTGAAAC (p.Asp1352=) c.3687_3692delinsTGAAAC (p.Asp1229=) n.4056_4061delinsTGAAAC | |
13 | g.32338412del | CA2082823403 | BRCA2 | c.4057del (p.Glu1353LysfsTer21) c.3688del (p.Glu1230LysfsTer21) n.4057del | ClinVar dbSNP |
13 | g.32338412G>A | CA387779123 | BRCA2 | c.4057G>A (p.Glu1353Lys) c.3688G>A (p.Glu1230Lys) n.4057G>A | dbSNP gnomAD v4 |
13 | g.32338412G>C | CA387779122 | BRCA2 | c.4057G>C (p.Glu1353Gln) c.3688G>C (p.Glu1230Gln) n.4057G>C | dbSNP |
13 | g.32338412G= | CA2082823409 | BRCA2 | c.4057G= (p.Glu1353=) c.3688G= (p.Glu1230=) n.4057G= | |
13 | g.32338412G>T | CA387779124 | BRCA2 | c.4057G>T (p.Glu1353Ter) c.3688G>T (p.Glu1230Ter) n.4057G>T | ClinVar dbSNP |
13 | g.32338413_32338417del | CA019444 | BRCA2 | c.4058_4062del (p.Glu1353GlyfsTer6) c.3689_3693del (p.Glu1230GlyfsTer6) n.4058_4062del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338413A>C | CA387779125 | BRCA2 | c.4058A>C (p.Glu1353Ala) c.3689A>C (p.Glu1230Ala) n.4058A>C | ClinVar dbSNP |
13 | g.32338413A>G | CA387779126 | BRCA2 | c.4058A>G (p.Glu1353Gly) c.3689A>G (p.Glu1230Gly) n.4058A>G | |
13 | g.32338413A>T | CA387779127 | BRCA2 | c.4058A>T (p.Glu1353Val) c.3689A>T (p.Glu1230Val) n.4058A>T | dbSNP |
13 | g.32338415dup | CA1139663184 | BRCA2 | c.4060dup (p.Thr1354AsnfsTer7) c.3691dup (p.Thr1231AsnfsTer7) n.4060dup | ClinVar dbSNP |
13 | g.32338413_32338420del | CA645585168 | BRCA2 | c.4058_4065del (p.Glu1353ValfsTer5) c.3689_3696del (p.Glu1230ValfsTer5) n.4058_4065del | COSMIC |
13 | g.32338414A>C | CA387779128 | BRCA2 | c.4059A>C (p.Glu1353Asp) c.3690A>C (p.Glu1230Asp) n.4059A>C | ClinVar |
13 | g.32338414A>G | CA483438148 | BRCA2 | c.4059A>G (p.Glu1353=) c.3690A>G (p.Glu1230=) n.4059A>G | |
13 | g.32338414A>T | CA387779129 | BRCA2 | c.4059A>T (p.Glu1353Asp) c.3690A>T (p.Glu1230Asp) n.4059A>T | dbSNP |
13 | g.32338415A>C | CA387779130 | BRCA2 | c.4060A>C (p.Thr1354Pro) c.3691A>C (p.Thr1231Pro) n.4060A>C | dbSNP |
13 | g.32338415A>G | CA387779131 | BRCA2 | c.4060A>G (p.Thr1354Ala) c.3691A>G (p.Thr1231Ala) n.4060A>G | dbSNP |
13 | g.32338415A>T | CA387779132 | BRCA2 | c.4060A>T (p.Thr1354Ser) c.3691A>T (p.Thr1231Ser) n.4060A>T | ClinVar dbSNP |
13 | g.32338416C>A | CA387779133 | BRCA2 | c.4061C>A (p.Thr1354Lys) c.3692C>A (p.Thr1231Lys) n.4061C>A | |
13 | g.32338416C= | CA2082823421 | BRCA2 | c.4061C= (p.Thr1354=) c.3692C= (p.Thr1231=) n.4061C= | |
13 | g.32338416C>G | CA387779134 | BRCA2 | c.4061C>G (p.Thr1354Arg) c.3692C>G (p.Thr1231Arg) n.4061C>G | |
13 | g.32338416C>T | CA019451 | BRCA2 | c.4061C>T (p.Thr1354Met) c.3692C>T (p.Thr1231Met) n.4061C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.32338417G>A | CA019456 | BRCA2 | c.4062G>A (p.Thr1354=) c.3693G>A (p.Thr1231=) n.4062G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338417G>C | CA483438152 | BRCA2 | c.4062G>C (p.Thr1354=) c.3693G>C (p.Thr1231=) n.4062G>C | dbSNP |
13 | g.32338417G= | CA2082823432 | BRCA2 | c.4062G= (p.Thr1354=) c.3693G= (p.Thr1231=) n.4062G= | |
13 | g.32338417G>T | CA483438153 | BRCA2 | c.4062G>T (p.Thr1354=) c.3693G>T (p.Thr1231=) n.4062G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338418G>A | CA387779137 | BRCA2 | c.4063G>A (p.Asp1355Asn) c.3694G>A (p.Asp1232Asn) n.4063G>A | ClinVar dbSNP |
13 | g.32338418G>C | CA387779135 | BRCA2 | c.4063G>C (p.Asp1355His) c.3694G>C (p.Asp1232His) n.4063G>C | dbSNP |
13 | g.32338418G= | CA2082823449 | BRCA2 | c.4063G= (p.Asp1355=) c.3694G= (p.Asp1232=) n.4063G= | |
13 | g.32338418G>T | CA387779136 | BRCA2 | c.4063G>T (p.Asp1355Tyr) c.3694G>T (p.Asp1232Tyr) n.4063G>T | dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32338419A>C | CA387779138 | BRCA2 | c.4064A>C (p.Asp1355Ala) c.3695A>C (p.Asp1232Ala) n.4064A>C | dbSNP |
13 | g.32338419A>G | CA387779139 | BRCA2 | c.4064A>G (p.Asp1355Gly) c.3695A>G (p.Asp1232Gly) n.4064A>G | dbSNP |
13 | g.32338419A>T | CA387779140 | BRCA2 | c.4064A>T (p.Asp1355Val) c.3695A>T (p.Asp1232Val) n.4064A>T | dbSNP |
13 | g.32338420C>A | CA387779141 | BRCA2 | c.4065C>A (p.Asp1355Glu) c.3696C>A (p.Asp1232Glu) n.4065C>A | |
13 | g.32338420C= | CA2082823488 | BRCA2 | c.4065C= (p.Asp1355=) c.3696C= (p.Asp1232=) n.4065C= | |
13 | g.32338420C>G | CA387779142 | BRCA2 | c.4065C>G (p.Asp1355Glu) c.3696C>G (p.Asp1232Glu) n.4065C>G | |
13 | g.32338420C>T | CA483438157 | BRCA2 | c.4065C>T (p.Asp1355=) c.3696C>T (p.Asp1232=) n.4065C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338421T>A | CA387779143 | BRCA2 | c.4066T>A (p.Leu1356Met) c.3697T>A (p.Leu1233Met) n.4066T>A | dbSNP |
13 | g.32338421T>C | CA483438158 | BRCA2 | c.4066T>C (p.Leu1356=) c.3697T>C (p.Leu1233=) n.4066T>C | |
13 | g.32338421T>G | CA387779144 | BRCA2 | c.4066T>G (p.Leu1356Val) c.3697T>G (p.Leu1233Val) n.4066T>G | gnomAD v4 |
13 | g.32338422dup | CA2695218194 | BRCA2 | c.4067dup (p.Leu1356PhefsTer5) c.3698dup (p.Leu1233PhefsTer5) n.4067dup | |
13 | g.32338422T>A | CA387779145 | BRCA2 | c.4067T>A (p.Leu1356Ter) c.3698T>A (p.Leu1233Ter) n.4067T>A | dbSNP |
13 | g.32338422T>C | CA10577469 | BRCA2 | c.4067T>C (p.Leu1356Ser) c.3698T>C (p.Leu1233Ser) n.4067T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338422T>G | CA387779146 | BRCA2 | c.4067T>G (p.Leu1356Trp) c.3698T>G (p.Leu1233Trp) n.4067T>G | |
13 | g.32338422T= | CA2082823505 | BRCA2 | c.4067T= (p.Leu1356=) c.3698T= (p.Leu1233=) n.4067T= | |
13 | g.32338423G>A | CA019458 | BRCA2 | c.4068G>A (p.Leu1356=) c.3699G>A (p.Leu1233=) n.4068G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338423G>C | CA387779147 | BRCA2 | c.4068G>C (p.Leu1356Phe) c.3699G>C (p.Leu1233Phe) n.4068G>C | dbSNP |
13 | g.32338423G= | CA2082823514 | BRCA2 | c.4068G= (p.Leu1356=) c.3699G= (p.Leu1233=) n.4068G= | |
13 | g.32338423G>T | CA019462 | BRCA2 | c.4068G>T (p.Leu1356Phe) c.3699G>T (p.Leu1233Phe) n.4068G>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338423_32338441dup | CA2695199713 | BRCA2 | c.4068_4086dup (p.Asn1363AlafsTer4) c.3699_3717dup (p.Asn1240AlafsTer4) n.4068_4086dup | ClinVar |
13 | g.32338424C>A | CA387779149 | BRCA2 | c.4069C>A (p.Leu1357Ile) c.3700C>A (p.Leu1234Ile) n.4069C>A | dbSNP |
13 | g.32338424C= | CA2082823523 | BRCA2 | c.4069C= (p.Leu1357=) c.3700C= (p.Leu1234=) n.4069C= | |
13 | g.32338424C>G | CA387779148 | BRCA2 | c.4069C>G (p.Leu1357Val) c.3700C>G (p.Leu1234Val) n.4069C>G | dbSNP gnomAD v2 |
13 | g.32338424C>T | CA483438161 | BRCA2 | c.4069C>T (p.Leu1357=) c.3700C>T (p.Leu1234=) n.4069C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338425T>A | CA387779150 | BRCA2 | c.4070T>A (p.Leu1357Gln) c.3701T>A (p.Leu1234Gln) n.4070T>A | dbSNP |
13 | g.32338425T>C | CA6940744 | BRCA2 | c.4070T>C (p.Leu1357Pro) c.3701T>C (p.Leu1234Pro) n.4070T>C | ClinVar dbSNP ExAC gnomAD v4 |
13 | g.32338425T>G | CA019466 | BRCA2 | c.4070T>G (p.Leu1357Arg) c.3701T>G (p.Leu1234Arg) n.4070T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338425T= | CA2082823564 | BRCA2 | c.4070T= (p.Leu1357=) c.3701T= (p.Leu1234=) n.4070T= | |
13 | g.32338425dup | CA915948459 | BRCA2 | c.4070dup (p.Phe1358IlefsTer3) c.3701dup (p.Phe1235IlefsTer3) n.4070dup | ClinVar dbSNP |
13 | g.32338426A= | CA2082823579 | BRCA2 | c.4071A= (p.Leu1357=) c.3702A= (p.Leu1234=) n.4071A= | |
13 | g.32338426A>C | CA019469 | BRCA2 | c.4071A>C (p.Leu1357=) c.3702A>C (p.Leu1234=) n.4071A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338426A>G | CA16613877 | BRCA2 | c.4071A>G (p.Leu1357=) c.3702A>G (p.Leu1234=) n.4071A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338426A>T | CA483438167 | BRCA2 | c.4071A>T (p.Leu1357=) c.3702A>T (p.Leu1234=) n.4071A>T | |
13 | g.32338427T>A | CA387779151 | BRCA2 | c.4072T>A (p.Phe1358Ile) c.3703T>A (p.Phe1235Ile) n.4072T>A | dbSNP |
13 | g.32338427T>C | CA387779152 | BRCA2 | c.4072T>C (p.Phe1358Leu) c.3703T>C (p.Phe1235Leu) n.4072T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32338427T>G | CA387779153 | BRCA2 | c.4072T>G (p.Phe1358Val) c.3703T>G (p.Phe1235Val) n.4072T>G | ClinVar dbSNP |
13 | g.32338427T= | CA2082823593 | BRCA2 | c.4072T= (p.Phe1358=) c.3703T= (p.Phe1235=) n.4072T= | |
13 | g.32338429dup | CA2697551725 | BRCA2 | c.4074dup (p.Thr1359TyrfsTer2) c.3705dup (p.Thr1236TyrfsTer2) n.4074dup | ClinVar |
13 | g.32338429del | CA2727931468 | BRCA2 | c.4074del (p.Phe1358LeufsTer16) c.3705del (p.Phe1235LeufsTer16) n.4074del | dbSNP |
13 | g.32338428T>A | CA387779156 | BRCA2 | c.4073T>A (p.Phe1358Tyr) c.3704T>A (p.Phe1235Tyr) n.4073T>A | dbSNP |
13 | g.32338428T>C | CA387779154 | BRCA2 | c.4073T>C (p.Phe1358Ser) c.3704T>C (p.Phe1235Ser) n.4073T>C | |
13 | g.32338428T>G | CA387779155 | BRCA2 | c.4073T>G (p.Phe1358Cys) c.3704T>G (p.Phe1235Cys) n.4073T>G | dbSNP |
13 | g.32338429T>A | CA387779157 | BRCA2 | c.4074T>A (p.Phe1358Leu) c.3705T>A (p.Phe1235Leu) n.4074T>A | dbSNP |
13 | g.32338429T>C | CA483438170 | BRCA2 | c.4074T>C (p.Phe1358=) c.3705T>C (p.Phe1235=) n.4074T>C | ClinVar dbSNP |
13 | g.32338429T>G | CA387779158 | BRCA2 | c.4074T>G (p.Phe1358Leu) c.3705T>G (p.Phe1235Leu) n.4074T>G | |
13 | g.32338429T= | CA2082823600 | BRCA2 | c.4074T= (p.Phe1358=) c.3705T= (p.Phe1235=) n.4074T= | |
13 | g.32338430A= | CA2082823609 | BRCA2 | c.4075A= (p.Thr1359=) c.3706A= (p.Thr1236=) n.4075A= | |
13 | g.32338430A>C | CA387779159 | BRCA2 | c.4075A>C (p.Thr1359Pro) c.3706A>C (p.Thr1236Pro) n.4075A>C | dbSNP |
13 | g.32338430A>G | CA387779160 | BRCA2 | c.4075A>G (p.Thr1359Ala) c.3706A>G (p.Thr1236Ala) n.4075A>G | ClinVar dbSNP |
13 | g.32338430A>T | CA387779161 | BRCA2 | c.4075A>T (p.Thr1359Ser) c.3706A>T (p.Thr1236Ser) n.4075A>T | dbSNP |
13 | g.32338430_32338431del | CA1139770840 | BRCA2 | c.4075_4076del (p.Thr1359Ter) c.3706_3707del (p.Thr1236Ter) n.4075_4076del | |
13 | g.32338430_32338431delinsAC | CA2082823608 | BRCA2 | c.4075_4076delinsAC (p.Thr1359=) c.3706_3707delinsAC (p.Thr1236=) n.4075_4076delinsAC | |
13 | g.32338431del | CA019472 | BRCA2 | c.4076del (p.Thr1359MetfsTer15) c.3707del (p.Thr1236MetfsTer15) n.4076del | ClinVar dbSNP |
13 | g.32338431C>A | CA387779163 | BRCA2 | c.4076C>A (p.Thr1359Asn) c.3707C>A (p.Thr1236Asn) n.4076C>A | dbSNP |
13 | g.32338431C= | CA2082823621 | BRCA2 | c.4076C= (p.Thr1359=) c.3707C= (p.Thr1236=) n.4076C= | |
13 | g.32338431C>G | CA387779167 | BRCA2 | c.4076C>G (p.Thr1359Ser) c.3707C>G (p.Thr1236Ser) n.4076C>G | ClinVar dbSNP |
13 | g.32338431C>T | CA10583099 | BRCA2 | c.4076C>T (p.Thr1359Ile) c.3707C>T (p.Thr1236Ile) n.4076C>T | ClinVar dbSNP COSMIC COSMIC |
13 | g.32338432T>A | CA483438174 | BRCA2 | c.4077T>A (p.Thr1359=) c.3708T>A (p.Thr1236=) n.4077T>A | dbSNP |
13 | g.32338432T>C | CA16607465 | BRCA2 | c.4077T>C (p.Thr1359=) c.3708T>C (p.Thr1236=) n.4077T>C | ClinVar dbSNP |
13 | g.32338432T>G | CA483438175 | BRCA2 | c.4077T>G (p.Thr1359=) c.3708T>G (p.Thr1236=) n.4077T>G | |
13 | g.32338432T= | CA2082823629 | BRCA2 | c.4077T= (p.Thr1359=) c.3708T= (p.Thr1236=) n.4077T= | |
13 | g.32338433del | CA2499222153 | BRCA2 | c.4078del (p.Asp1360IlefsTer14) c.3709del (p.Asp1237IlefsTer14) n.4078del | ClinVar dbSNP |
13 | g.32338433G>A | CA387779168 | BRCA2 | c.4078G>A (p.Asp1360Asn) c.3709G>A (p.Asp1237Asn) n.4078G>A | |
13 | g.32338433G>C | CA387779170 | BRCA2 | c.4078G>C (p.Asp1360His) c.3709G>C (p.Asp1237His) n.4078G>C | |
13 | g.32338433G>T | CA387779171 | BRCA2 | c.4078G>T (p.Asp1360Tyr) c.3709G>T (p.Asp1237Tyr) n.4078G>T | ClinVar gnomAD v4 |
13 | g.32338434A= | CA2082823649 | BRCA2 | c.4079A= (p.Asp1360=) c.3710A= (p.Asp1237=) n.4079A= | |
13 | g.32338434A>C | CA387779173 | BRCA2 | c.4079A>C (p.Asp1360Ala) c.3710A>C (p.Asp1237Ala) n.4079A>C | |
13 | g.32338434A>G | CA019477 | BRCA2 | c.4079A>G (p.Asp1360Gly) c.3710A>G (p.Asp1237Gly) n.4079A>G | ClinVar dbSNP |
13 | g.32338434A>T | CA387779175 | BRCA2 | c.4079A>T (p.Asp1360Val) c.3710A>T (p.Asp1237Val) n.4079A>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338435_32338443del | CA2580614674 | BRCA2 | c.4080_4088del (p.Gln1361_Asn1363del) c.3711_3719del (p.Gln1238_Asn1240del) n.4080_4088del | ClinVar |
13 | g.32338435T>A | CA387779177 | BRCA2 | c.4080T>A (p.Asp1360Glu) c.3711T>A (p.Asp1237Glu) n.4080T>A | dbSNP |
13 | g.32338435T>C | CA483438180 | BRCA2 | c.4080T>C (p.Asp1360=) c.3711T>C (p.Asp1237=) n.4080T>C | |
13 | g.32338435T>G | CA387779178 | BRCA2 | c.4080T>G (p.Asp1360Glu) c.3711T>G (p.Asp1237Glu) n.4080T>G | |
13 | g.32338435_32338438delinsTCAG | CA2082823655 | BRCA2 | c.4080_4083delinsTCAG (p.Asp1360=) c.3711_3714delinsTCAG (p.Asp1237=) n.4080_4083delinsTCAG | |
13 | g.32338436C>A | CA387779180 | BRCA2 | c.4081C>A (p.Gln1361Lys) c.3712C>A (p.Gln1238Lys) n.4081C>A | |
13 | g.32338436C= | CA2082823680 | BRCA2 | c.4081C= (p.Gln1361=) c.3712C= (p.Gln1238=) n.4081C= | |
13 | g.32338436C>G | CA019486 | BRCA2 | c.4081C>G (p.Gln1361Glu) c.3712C>G (p.Gln1238Glu) n.4081C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338436C>T | CA247506459 | BRCA2 | c.4081C>T (p.Gln1361Ter) c.3712C>T (p.Gln1238Ter) n.4081C>T | ClinVar dbSNP |
13 | g.32338438_32338440del | CA2082823665 | BRCA2 | c.4083_4085del (p.Gln1361del) c.3714_3716del (p.Gln1238del) n.4083_4085del | dbSNP gnomAD v4 |
13 | g.32338437A>C | CA387779182 | BRCA2 | c.4082A>C (p.Gln1361Pro) c.3713A>C (p.Gln1238Pro) n.4082A>C | |
13 | g.32338437A>G | CA387779186 | BRCA2 | c.4082A>G (p.Gln1361Arg) c.3713A>G (p.Gln1238Arg) n.4082A>G | |
13 | g.32338437A>T | CA387779184 | BRCA2 | c.4082A>T (p.Gln1361Leu) c.3713A>T (p.Gln1238Leu) n.4082A>T | dbSNP |
13 | g.32338438G>A | CA16606785 | BRCA2 | c.4083G>A (p.Gln1361=) c.3714G>A (p.Gln1238=) n.4083G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338438G>C | CA387779188 | BRCA2 | c.4083G>C (p.Gln1361His) c.3714G>C (p.Gln1238His) n.4083G>C | dbSNP |
13 | g.32338438G= | CA2082823689 | BRCA2 | c.4083G= (p.Gln1361=) c.3714G= (p.Gln1238=) n.4083G= | |
13 | g.32338438G>T | CA387779189 | BRCA2 | c.4083G>T (p.Gln1361His) c.3714G>T (p.Gln1238His) n.4083G>T | dbSNP |
13 | g.32338439del | CA483438182 | BRCA2 | c.4084del (p.His1362ThrfsTer12) c.3715del (p.His1239ThrfsTer12) n.4084del | COSMIC |
13 | g.32338439C>A | CA387779191 | BRCA2 | c.4084C>A (p.His1362Asn) c.3715C>A (p.His1239Asn) n.4084C>A | |
13 | g.32338439C>G | CA387779193 | BRCA2 | c.4084C>G (p.His1362Asp) c.3715C>G (p.His1239Asp) n.4084C>G | |
13 | g.32338439C>T | CA387779194 | BRCA2 | c.4084C>T (p.His1362Tyr) c.3715C>T (p.His1239Tyr) n.4084C>T | ClinVar |
13 | g.32338439_32338440delinsCA | CA2082823698 | BRCA2 | c.4084_4085delinsCA (p.His1362=) c.3715_3716delinsCA (p.His1239=) n.4084_4085delinsCA | |
13 | g.32338440del | CA019488 | BRCA2 | c.4085del (p.His1362ProfsTer12) c.3716del (p.His1239ProfsTer12) n.4085del | ClinVar dbSNP gnomAD v4 |
13 | g.32338440A= | CA2082823708 | BRCA2 | c.4085A= (p.His1362=) c.3716A= (p.His1239=) n.4085A= | |
13 | g.32338440A>C | CA387779196 | BRCA2 | c.4085A>C (p.His1362Pro) c.3716A>C (p.His1239Pro) n.4085A>C | dbSNP |
13 | g.32338440A>G | CA16614300 | BRCA2 | c.4085A>G (p.His1362Arg) c.3716A>G (p.His1239Arg) n.4085A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338440A>T | CA387779199 | BRCA2 | c.4085A>T (p.His1362Leu) c.3716A>T (p.His1239Leu) n.4085A>T | ClinVar dbSNP |
13 | g.32338441C>A | CA387779200 | BRCA2 | c.4086C>A (p.His1362Gln) c.3717C>A (p.His1239Gln) n.4086C>A | |
13 | g.32338441C= | CA2082823715 | BRCA2 | c.4086C= (p.His1362=) c.3717C= (p.His1239=) n.4086C= | |
13 | g.32338441C>G | CA387779202 | BRCA2 | c.4086C>G (p.His1362Gln) c.3717C>G (p.His1239Gln) n.4086C>G | ClinVar dbSNP |
13 | g.32338441C>T | CA6940745 | BRCA2 | c.4086C>T (p.His1362=) c.3717C>T (p.His1239=) n.4086C>T | ClinVar dbSNP ExAC gnomAD v2 |
13 | g.32338453_32338454insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCCAACATATGTCTT | CA2499222154 | BRCA2 | c.4098_4099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCCAACATATGTCTT (p.Lys1367PhefsTer65) c.3729_3730insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCCAACATATGTCTT (p.Lys1244PhefsTer65) n.4098_4099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCCAACATATGTCTT | ClinVar dbSNP |
13 | g.32338442A= | CA2082823725 | BRCA2 | c.4087A= (p.Asn1363=) c.3718A= (p.Asn1240=) n.4087A= | |
13 | g.32338442A>C | CA387779207 | BRCA2 | c.4087A>C (p.Asn1363His) c.3718A>C (p.Asn1240His) n.4087A>C | ClinVar |
13 | g.32338442A>G | CA387779205 | BRCA2 | c.4087A>G (p.Asn1363Asp) c.3718A>G (p.Asn1240Asp) n.4087A>G | ClinVar dbSNP |
13 | g.32338442A>T | CA387779204 | BRCA2 | c.4087A>T (p.Asn1363Tyr) c.3718A>T (p.Asn1240Tyr) n.4087A>T | dbSNP |
13 | g.32338443dup | CA1139770792 | BRCA2 | c.4088dup (p.Asn1363LysfsTer5) c.3719dup (p.Asn1240LysfsTer5) n.4088dup | |
13 | g.32338443A= | CA2082823732 | BRCA2 | c.4088A= (p.Asn1363=) c.3719A= (p.Asn1240=) n.4088A= | |
13 | g.32338443A>C | CA387779210 | BRCA2 | c.4088A>C (p.Asn1363Thr) c.3719A>C (p.Asn1240Thr) n.4088A>C | dbSNP |
13 | g.32338443A>G | CA387779211 | BRCA2 | c.4088A>G (p.Asn1363Ser) c.3719A>G (p.Asn1240Ser) n.4088A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338443A>T | CA387779213 | BRCA2 | c.4088A>T (p.Asn1363Ile) c.3719A>T (p.Asn1240Ile) n.4088A>T | dbSNP |
13 | g.32338444C>A | CA10579600 | BRCA2 | c.4089C>A (p.Asn1363Lys) c.3720C>A (p.Asn1240Lys) n.4089C>A | ClinVar dbSNP |
13 | g.32338444C= | CA2082823749 | BRCA2 | c.4089C= (p.Asn1363=) c.3720C= (p.Asn1240=) n.4089C= | |
13 | g.32338444C>G | CA387779214 | BRCA2 | c.4089C>G (p.Asn1363Lys) c.3720C>G (p.Asn1240Lys) n.4089C>G | gnomAD v4 |
13 | g.32338444C>T | CA019492 | BRCA2 | c.4089C>T (p.Asn1363=) c.3720C>T (p.Asn1240=) n.4089C>T | ClinVar dbSNP |
13 | g.32338444_32338446delinsCAT | CA2082823758 | BRCA2 | c.4089_4091delinsCAT (p.Asn1363=) c.3720_3722delinsCAT (p.Asn1240=) n.4089_4091delinsCAT | |
13 | g.32338444_32338445insTTG | CA2082823778 | BRCA2 | c.4089_4090insTTG (p.Asn1363_Ile1364insLeu) c.3720_3721insTTG (p.Asn1240_Ile1241insLeu) n.4089_4090insTTG | dbSNP |
13 | g.32338445A= | CA2082823782 | BRCA2 | c.4090A= (p.Ile1364=) c.3721A= (p.Ile1241=) n.4090A= | |
13 | g.32338445A>C | CA019496 | BRCA2 | c.4090A>C (p.Ile1364Leu) c.3721A>C (p.Ile1241Leu) n.4090A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338445A>G | CA019501 | BRCA2 | c.4090A>G (p.Ile1364Val) c.3721A>G (p.Ile1241Val) n.4090A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338445A>T | CA387779218 | BRCA2 | c.4090A>T (p.Ile1364Leu) c.3721A>T (p.Ile1241Leu) n.4090A>T | dbSNP |
13 | g.32338447_32338448del | CA019504 | BRCA2 | c.4092_4093del (p.Ile1364MetfsTer3) c.3723_3724del (p.Ile1241MetfsTer3) n.4092_4093del | ClinVar dbSNP COSMIC |
13 | g.32338446T>A | CA387779220 | BRCA2 | c.4091T>A (p.Ile1364Lys) c.3722T>A (p.Ile1241Lys) n.4091T>A | dbSNP |
13 | g.32338446T>C | CA387779221 | BRCA2 | c.4091T>C (p.Ile1364Thr) c.3722T>C (p.Ile1241Thr) n.4091T>C | gnomAD v4 |
13 | g.32338446T>G | CA387779222 | BRCA2 | c.4091T>G (p.Ile1364Arg) c.3722T>G (p.Ile1241Arg) n.4091T>G | |
13 | g.32338446T= | CA2082823794 | BRCA2 | c.4091T= (p.Ile1364=) c.3722T= (p.Ile1241=) n.4091T= | |
13 | g.32338447A>C | CA483438194 | BRCA2 | c.4092A>C (p.Ile1364=) c.3723A>C (p.Ile1241=) n.4092A>C | |
13 | g.32338447A>G | CA387779225 | BRCA2 | c.4092A>G (p.Ile1364Met) c.3723A>G (p.Ile1241Met) n.4092A>G | ClinVar |
13 | g.32338447A>T | CA483438195 | BRCA2 | c.4092A>T (p.Ile1364=) c.3723A>T (p.Ile1241=) n.4092A>T | dbSNP |
13 | g.32338447_32338448insAA | CA10579601 | BRCA2 | c.4092_4093insAA (p.Cys1365AsnfsTer10) c.3723_3724insAA (p.Cys1242AsnfsTer10) n.4092_4093insAA | ClinVar dbSNP |
13 | g.32338447dup | CA10589240 | BRCA2 | c.4092dup (p.Cys1365MetfsTer3) c.3723dup (p.Cys1242MetfsTer3) n.4092dup | ClinVar dbSNP |
13 | g.32338448T>A | CA387779226 | BRCA2 | c.4093T>A (p.Cys1365Ser) c.3724T>A (p.Cys1242Ser) n.4093T>A | dbSNP |
13 | g.32338448T>C | CA387779229 | BRCA2 | c.4093T>C (p.Cys1365Arg) c.3724T>C (p.Cys1242Arg) n.4093T>C | ClinVar dbSNP |
13 | g.32338448T>G | CA387779228 | BRCA2 | c.4093T>G (p.Cys1365Gly) c.3724T>G (p.Cys1242Gly) n.4093T>G | |
13 | g.32338449G>A | CA019508 | BRCA2 | c.4094G>A (p.Cys1365Tyr) c.3725G>A (p.Cys1242Tyr) n.4094G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338449G>C | CA387779231 | BRCA2 | c.4094G>C (p.Cys1365Ser) c.3725G>C (p.Cys1242Ser) n.4094G>C | ClinVar dbSNP |
13 | g.32338449G= | CA2082823816 | BRCA2 | c.4094G= (p.Cys1365=) c.3725G= (p.Cys1242=) n.4094G= | |
13 | g.32338449G>T | CA387779233 | BRCA2 | c.4094G>T (p.Cys1365Phe) c.3725G>T (p.Cys1242Phe) n.4094G>T | COSMIC COSMIC |
13 | g.32338449_32338450delinsGT | CA2082823822 | BRCA2 | c.4094_4095delinsGT (p.Cys1365=) c.3725_3726delinsGT (p.Cys1242=) n.4094_4095delinsGT | |
13 | g.32338450del | CA019512 | BRCA2 | c.4095del (p.Lys1367AsnfsTer7) c.3726del (p.Lys1244AsnfsTer7) n.4095del | ClinVar dbSNP |
13 | g.32338450T>A | CA019517 | BRCA2 | c.4095T>A (p.Cys1365Ter) c.3726T>A (p.Cys1242Ter) n.4095T>A | ClinVar dbSNP |
13 | g.32338450T>C | CA483438201 | BRCA2 | c.4095T>C (p.Cys1365=) c.3726T>C (p.Cys1242=) n.4095T>C | gnomAD v4 |
13 | g.32338450T>G | CA387779235 | BRCA2 | c.4095T>G (p.Cys1365Trp) c.3726T>G (p.Cys1242Trp) n.4095T>G | |
13 | g.32338450T= | CA2082823840 | BRCA2 | c.4095T= (p.Cys1365=) c.3726T= (p.Cys1242=) n.4095T= | |
13 | g.32338451_32338452insCATC | CA658823566 | BRCA2 | c.4096_4097insCATC (p.Leu1366ProfsTer3) c.3727_3728insCATC (p.Leu1243ProfsTer3) n.4096_4097insCATC | ClinVar dbSNP |
13 | g.32338451C>A | CA387779239 | BRCA2 | c.4096C>A (p.Leu1366Ile) c.3727C>A (p.Leu1243Ile) n.4096C>A | dbSNP |
13 | g.32338451C= | CA2082823857 | BRCA2 | c.4096C= (p.Leu1366=) c.3727C= (p.Leu1243=) n.4096C= | |
13 | g.32338451C>G | CA387779237 | BRCA2 | c.4096C>G (p.Leu1366Val) c.3727C>G (p.Leu1243Val) n.4096C>G | ClinVar dbSNP |
13 | g.32338451C>T | CA387779238 | BRCA2 | c.4096C>T (p.Leu1366Phe) c.3727C>T (p.Leu1243Phe) n.4096C>T | |
13 | g.32338451_32338456delinsCTTAAA | CA2082823864 | BRCA2 | c.4096_4101delinsCTTAAA (p.Leu1366=) c.3727_3732delinsCTTAAA (p.Leu1243=) n.4096_4101delinsCTTAAA | |
13 | g.32338452T>A | CA387779241 | BRCA2 | c.4097T>A (p.Leu1366His) c.3728T>A (p.Leu1243His) n.4097T>A | dbSNP |
13 | g.32338452T>C | CA387779242 | BRCA2 | c.4097T>C (p.Leu1366Pro) c.3728T>C (p.Leu1243Pro) n.4097T>C | dbSNP |
13 | g.32338452T>G | CA387779243 | BRCA2 | c.4097T>G (p.Leu1366Arg) c.3728T>G (p.Leu1243Arg) n.4097T>G | |
13 | g.32338452T= | CA2082823874 | BRCA2 | c.4097T= (p.Leu1366=) c.3728T= (p.Leu1243=) n.4097T= | |
13 | g.32338455_32338459del | CA915948460 | BRCA2 | c.4100_4104del (p.Lys1367IlefsTer13) c.3731_3735del (p.Lys1244IlefsTer13) n.4100_4104del | ClinVar dbSNP |