| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32338043_32338044insAATTT | CA2082819653 | BRCA2 | c.3688_3689insAATTT (p.Ser1230Ter) c.3319_3320insAATTT (p.Ser1107Ter) n.3688_3689insAATTT | dbSNP |
| 13 | g.32338043del | CA10583093 | BRCA2 | c.3688del (p.Ser1230LeufsTer9) c.3319del (p.Ser1107LeufsTer9) n.3688del | ClinVar dbSNP COSMIC |
| 13 | g.32338042T>A | CA483437718 | BRCA2 | c.3687T>A (p.Val1229=) c.3318T>A (p.Val1106=) n.3687T>A | dbSNP |
| 13 | g.32338042T>C | CA483437716 | BRCA2 | c.3687T>C (p.Val1229=) c.3318T>C (p.Val1106=) n.3687T>C | |
| 13 | g.32338042T>G | CA483437717 | BRCA2 | c.3687T>G (p.Val1229=) c.3318T>G (p.Val1106=) n.3687T>G | |
| 13 | g.32338042_32338044delinsTTC | CA2082819661 | BRCA2 | c.3687_3689delinsTTC (p.Val1229=) c.3318_3320delinsTTC (p.Val1106=) n.3687_3689delinsTTC | |
| 13 | g.32338043T>A | CA387778023 | BRCA2 | c.3688T>A (p.Ser1230Thr) c.3319T>A (p.Ser1107Thr) n.3688T>A | dbSNP |
| 13 | g.32338043T>C | CA387778024 | BRCA2 | c.3688T>C (p.Ser1230Pro) c.3319T>C (p.Ser1107Pro) n.3688T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338043T>G | CA10579586 | BRCA2 | c.3688T>G (p.Ser1230Ala) c.3319T>G (p.Ser1107Ala) n.3688T>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338043T= | CA2082819703 | BRCA2 | c.3688T= (p.Ser1230=) c.3319T= (p.Ser1107=) n.3688T= | |
| 13 | g.32338043_32338044delinsTC | CA2082819689 | BRCA2 | c.3688_3689delinsTC (p.Ser1230=) c.3319_3320delinsTC (p.Ser1107=) n.3688_3689delinsTC | |
| 13 | g.32338044_32338045del | CA354139 | BRCA2 | c.3689_3690del (p.Ser1230TyrfsTer2) c.3320_3321del (p.Ser1107TyrfsTer2) n.3689_3690del | ClinVar dbSNP |
| 13 | g.32338044del | CA018587 | BRCA2 | c.3689del (p.Ser1230LeufsTer9) c.3320del (p.Ser1107LeufsTer9) n.3689del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338044C>A | CA387778025 | BRCA2 | c.3689C>A (p.Ser1230Tyr) c.3320C>A (p.Ser1107Tyr) n.3689C>A | |
| 13 | g.32338044C>G | CA387778027 | BRCA2 | c.3689C>G (p.Ser1230Cys) c.3320C>G (p.Ser1107Cys) n.3689C>G | ClinVar dbSNP |
| 13 | g.32338044C>T | CA387778026 | BRCA2 | c.3689C>T (p.Ser1230Phe) c.3320C>T (p.Ser1107Phe) n.3689C>T | ClinVar dbSNP |
| 13 | g.32338045T>A | CA483437719 | BRCA2 | c.3690T>A (p.Ser1230=) c.3321T>A (p.Ser1107=) n.3690T>A | dbSNP |
| 13 | g.32338045T>C | CA483437720 | BRCA2 | c.3690T>C (p.Ser1230=) c.3321T>C (p.Ser1107=) n.3690T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32338045T>G | CA483437721 | BRCA2 | c.3690T>G (p.Ser1230=) c.3321T>G (p.Ser1107=) n.3690T>G | |
| 13 | g.32338045T= | CA2082819852 | BRCA2 | c.3690T= (p.Ser1230=) c.3321T= (p.Ser1107=) n.3690T= | |
| 13 | g.32338046A= | CA2082819860 | BRCA2 | c.3691A= (p.Thr1231=) c.3322A= (p.Thr1108=) n.3691A= | |
| 13 | g.32338046A>C | CA387778028 | BRCA2 | c.3691A>C (p.Thr1231Pro) c.3322A>C (p.Thr1108Pro) n.3691A>C | dbSNP |
| 13 | g.32338046A>G | CA387778029 | BRCA2 | c.3691A>G (p.Thr1231Ala) c.3322A>G (p.Thr1108Ala) n.3691A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338046A>T | CA387778030 | BRCA2 | c.3691A>T (p.Thr1231Ser) c.3322A>T (p.Thr1108Ser) n.3691A>T | ClinVar dbSNP |
| 13 | g.32338046_32338047del | CA2499222143 | BRCA2 | c.3691_3692del (p.Thr1231Ter) c.3322_3323del (p.Thr1108Ter) n.3691_3692del | |
| 13 | g.32338047C>A | CA387778031 | BRCA2 | c.3692C>A (p.Thr1231Asn) c.3323C>A (p.Thr1108Asn) n.3692C>A | dbSNP |
| 13 | g.32338047C>G | CA387778032 | BRCA2 | c.3692C>G (p.Thr1231Ser) c.3323C>G (p.Thr1108Ser) n.3692C>G | ClinVar dbSNP |
| 13 | g.32338047C>T | CA387778033 | BRCA2 | c.3692C>T (p.Thr1231Ile) c.3323C>T (p.Thr1108Ile) n.3692C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338048T>A | CA483437725 | BRCA2 | c.3693T>A (p.Thr1231=) c.3324T>A (p.Thr1108=) n.3693T>A | ClinVar |
| 13 | g.32338048T>C | CA348144 | BRCA2 | c.3693T>C (p.Thr1231=) c.3324T>C (p.Thr1108=) n.3693T>C | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 13 | g.32338048T>G | CA483437724 | BRCA2 | c.3693T>G (p.Thr1231=) c.3324T>G (p.Thr1108=) n.3693T>G | ClinVar |
| 13 | g.32338048T= | CA2082819869 | BRCA2 | c.3693T= (p.Thr1231=) c.3324T= (p.Thr1108=) n.3693T= | |
| 13 | g.32338049G>A | CA387778034 | BRCA2 | c.3694G>A (p.Glu1232Lys) c.3325G>A (p.Glu1109Lys) n.3694G>A | |
| 13 | g.32338049G>C | CA387778035 | BRCA2 | c.3694G>C (p.Glu1232Gln) c.3325G>C (p.Glu1109Gln) n.3694G>C | gnomAD v4 |
| 13 | g.32338049G>T | CA387778036 | BRCA2 | c.3694G>T (p.Glu1232Ter) c.3325G>T (p.Glu1109Ter) n.3694G>T | |
| 13 | g.32338049_32338050delinsGA | CA2082819883 | BRCA2 | c.3694_3695delinsGA (p.Glu1232=) c.3325_3326delinsGA (p.Glu1109=) n.3694_3695delinsGA | |
| 13 | g.32338050A= | CA2082819900 | BRCA2 | c.3695A= (p.Glu1232=) c.3326A= (p.Glu1109=) n.3695A= | |
| 13 | g.32338050A>C | CA387778038 | BRCA2 | c.3695A>C (p.Glu1232Ala) c.3326A>C (p.Glu1109Ala) n.3695A>C | |
| 13 | g.32338050A>G | CA6940717 | BRCA2 | c.3695A>G (p.Glu1232Gly) c.3326A>G (p.Glu1109Gly) n.3695A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338050A>T | CA387778037 | BRCA2 | c.3695A>T (p.Glu1232Val) c.3326A>T (p.Glu1109Val) n.3695A>T | dbSNP |
| 13 | g.32338051del | CA915948455 | BRCA2 | c.3696del (p.Ala1233LeufsTer6) c.3327del (p.Ala1110LeufsTer6) n.3696del | ClinVar dbSNP |
| 13 | g.32338051A= | CA2082819910 | BRCA2 | c.3696A= (p.Glu1232=) c.3327A= (p.Glu1109=) n.3696A= | |
| 13 | g.32338051A>C | CA387778040 | BRCA2 | c.3696A>C (p.Glu1232Asp) c.3327A>C (p.Glu1109Asp) n.3696A>C | |
| 13 | g.32338051A>G | CA483437726 | BRCA2 | c.3696A>G (p.Glu1232=) c.3327A>G (p.Glu1109=) n.3696A>G | ClinVar dbSNP |
| 13 | g.32338051A>T | CA387778039 | BRCA2 | c.3696A>T (p.Glu1232Asp) c.3327A>T (p.Glu1109Asp) n.3696A>T | dbSNP |
| 13 | g.32338052G>A | CA018594 | BRCA2 | c.3697G>A (p.Ala1233Thr) c.3328G>A (p.Ala1110Thr) n.3697G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338052G>C | CA387778041 | BRCA2 | c.3697G>C (p.Ala1233Pro) c.3328G>C (p.Ala1110Pro) n.3697G>C | dbSNP |
| 13 | g.32338052G= | CA2082819920 | BRCA2 | c.3697G= (p.Ala1233=) c.3328G= (p.Ala1110=) n.3697G= | |
| 13 | g.32338052G>T | CA387778042 | BRCA2 | c.3697G>T (p.Ala1233Ser) c.3328G>T (p.Ala1110Ser) n.3697G>T | dbSNP gnomAD v4 |
| 13 | g.32338053C>A | CA387778043 | BRCA2 | c.3698C>A (p.Ala1233Asp) c.3329C>A (p.Ala1110Asp) n.3698C>A | dbSNP |
| 13 | g.32338053C= | CA2082819925 | BRCA2 | c.3698C= (p.Ala1233=) c.3329C= (p.Ala1110=) n.3698C= | |
| 13 | g.32338053C>G | CA387778044 | BRCA2 | c.3698C>G (p.Ala1233Gly) c.3329C>G (p.Ala1110Gly) n.3698C>G | dbSNP |
| 13 | g.32338053C>T | CA6940718 | BRCA2 | c.3698C>T (p.Ala1233Val) c.3329C>T (p.Ala1110Val) n.3698C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338055_32338056del | CA2580614656 | BRCA2 | c.3700_3701del (p.Leu1234AlafsTer8) c.3331_3332del (p.Leu1111AlafsTer8) n.3700_3701del | ClinVar |
| 13 | g.32338054T>A | CA483437729 | BRCA2 | c.3699T>A (p.Ala1233=) c.3330T>A (p.Ala1110=) n.3699T>A | dbSNP |
| 13 | g.32338054T>C | CA483437727 | BRCA2 | c.3699T>C (p.Ala1233=) c.3330T>C (p.Ala1110=) n.3699T>C | |
| 13 | g.32338054T>G | CA483437728 | BRCA2 | c.3699T>G (p.Ala1233=) c.3330T>G (p.Ala1110=) n.3699T>G | |
| 13 | g.32338055C>A | CA018608 | BRCA2 | c.3700C>A (p.Leu1234Met) c.3331C>A (p.Leu1111Met) n.3700C>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338055C= | CA2082819938 | BRCA2 | c.3700C= (p.Leu1234=) c.3331C= (p.Leu1111=) n.3700C= | |
| 13 | g.32338055C>G | CA387778045 | BRCA2 | c.3700C>G (p.Leu1234Val) c.3331C>G (p.Leu1111Val) n.3700C>G | dbSNP |
| 13 | g.32338055C>T | CA483437730 | BRCA2 | c.3700C>T (p.Leu1234=) c.3331C>T (p.Leu1111=) n.3700C>T | dbSNP gnomAD v4 |
| 13 | g.32338056T>A | CA387778046 | BRCA2 | c.3701T>A (p.Leu1234Gln) c.3332T>A (p.Leu1111Gln) n.3701T>A | dbSNP |
| 13 | g.32338056T>C | CA387778047 | BRCA2 | c.3701T>C (p.Leu1234Pro) c.3332T>C (p.Leu1111Pro) n.3701T>C | dbSNP |
| 13 | g.32338056T>G | CA387778048 | BRCA2 | c.3701T>G (p.Leu1234Arg) c.3332T>G (p.Leu1111Arg) n.3701T>G | gnomAD v4 |
| 13 | g.32338057G>A | CA483437731 | BRCA2 | c.3702G>A (p.Leu1234=) c.3333G>A (p.Leu1111=) n.3702G>A | dbSNP |
| 13 | g.32338057G>C | CA483437732 | BRCA2 | c.3702G>C (p.Leu1234=) c.3333G>C (p.Leu1111=) n.3702G>C | dbSNP |
| 13 | g.32338057G>T | CA483437733 | BRCA2 | c.3702G>T (p.Leu1234=) c.3333G>T (p.Leu1111=) n.3702G>T | dbSNP |
| 13 | g.32338058C>A | CA387778049 | BRCA2 | c.3703C>A (p.Gln1235Lys) c.3334C>A (p.Gln1112Lys) n.3703C>A | |
| 13 | g.32338058C= | CA2082819956 | BRCA2 | c.3703C= (p.Gln1235=) c.3334C= (p.Gln1112=) n.3703C= | |
| 13 | g.32338058C>G | CA387778050 | BRCA2 | c.3703C>G (p.Gln1235Glu) c.3334C>G (p.Gln1112Glu) n.3703C>G | |
| 13 | g.32338058C>T | CA387778051 | BRCA2 | c.3703C>T (p.Gln1235Ter) c.3334C>T (p.Gln1112Ter) n.3703C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338058_32338059delinsCA | CA2082819951 | BRCA2 | c.3703_3704delinsCA (p.Gln1235=) c.3334_3335delinsCA (p.Gln1112=) n.3703_3704delinsCA | |
| 13 | g.32338059A= | CA2082819965 | BRCA2 | c.3704A= (p.Gln1235=) c.3335A= (p.Gln1112=) n.3704A= | |
| 13 | g.32338059A>C | CA387778053 | BRCA2 | c.3704A>C (p.Gln1235Pro) c.3335A>C (p.Gln1112Pro) n.3704A>C | ClinVar |
| 13 | g.32338059A>G | CA16614294 | BRCA2 | c.3704A>G (p.Gln1235Arg) c.3335A>G (p.Gln1112Arg) n.3704A>G | ClinVar dbSNP |
| 13 | g.32338059A>T | CA387778052 | BRCA2 | c.3704A>T (p.Gln1235Leu) c.3335A>T (p.Gln1112Leu) n.3704A>T | dbSNP |
| 13 | g.32338063dup | CA018613 | BRCA2 | c.3708dup (p.Ala1237SerfsTer6) c.3339dup (p.Ala1114SerfsTer6) n.3708dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32338063del | CA247505648 | BRCA2 | c.3708del (p.Ala1237LeufsTer2) c.3339del (p.Ala1114LeufsTer2) n.3708del | ClinVar dbSNP |
| 13 | g.32338060A>C | CA387778054 | BRCA2 | c.3705A>C (p.Gln1235His) c.3336A>C (p.Gln1112His) n.3705A>C | dbSNP |
| 13 | g.32338060A>G | CA483437734 | BRCA2 | c.3705A>G (p.Gln1235=) c.3336A>G (p.Gln1112=) n.3705A>G | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32338060A>T | CA387778055 | BRCA2 | c.3705A>T (p.Gln1235His) c.3336A>T (p.Gln1112His) n.3705A>T | dbSNP |
| 13 | g.32338061A= | CA2082819975 | BRCA2 | c.3706A= (p.Lys1236=) c.3337A= (p.Lys1113=) n.3706A= | |
| 13 | g.32338061A>C | CA387778056 | BRCA2 | c.3706A>C (p.Lys1236Gln) c.3337A>C (p.Lys1113Gln) n.3706A>C | ClinVar dbSNP |
| 13 | g.32338061A>G | CA387778057 | BRCA2 | c.3706A>G (p.Lys1236Glu) c.3337A>G (p.Lys1113Glu) n.3706A>G | ClinVar dbSNP |
| 13 | g.32338061A>T | CA387778058 | BRCA2 | c.3706A>T (p.Lys1236Ter) c.3337A>T (p.Lys1113Ter) n.3706A>T | |
| 13 | g.32338062A>C | CA387778059 | BRCA2 | c.3707A>C (p.Lys1236Thr) c.3338A>C (p.Lys1113Thr) n.3707A>C | |
| 13 | g.32338062A>G | CA387778060 | BRCA2 | c.3707A>G (p.Lys1236Arg) c.3338A>G (p.Lys1113Arg) n.3707A>G | dbSNP |
| 13 | g.32338062A>T | CA387778061 | BRCA2 | c.3707A>T (p.Lys1236Ile) c.3338A>T (p.Lys1113Ile) n.3707A>T | |
| 13 | g.32338063A= | CA2082819983 | BRCA2 | c.3708A= (p.Lys1236=) c.3339A= (p.Lys1113=) n.3708A= | |
| 13 | g.32338063A>C | CA387778062 | BRCA2 | c.3708A>C (p.Lys1236Asn) c.3339A>C (p.Lys1113Asn) n.3708A>C | |
| 13 | g.32338063A>G | CA483437737 | BRCA2 | c.3708A>G (p.Lys1236=) c.3339A>G (p.Lys1113=) n.3708A>G | ClinVar dbSNP |
| 13 | g.32338063A>T | CA387778063 | BRCA2 | c.3708A>T (p.Lys1236Asn) c.3339A>T (p.Lys1113Asn) n.3708A>T | ClinVar dbSNP |
| 13 | g.32338064G>A | CA387778065 | BRCA2 | c.3709G>A (p.Ala1237Thr) c.3340G>A (p.Ala1114Thr) n.3709G>A | ClinVar dbSNP |
| 13 | g.32338064G>C | CA018619 | BRCA2 | c.3709G>C (p.Ala1237Pro) c.3340G>C (p.Ala1114Pro) n.3709G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32338064G= | CA2082819986 | BRCA2 | c.3709G= (p.Ala1237=) c.3340G= (p.Ala1114=) n.3709G= | |
| 13 | g.32338064G>T | CA387778064 | BRCA2 | c.3709G>T (p.Ala1237Ser) c.3340G>T (p.Ala1114Ser) n.3709G>T | dbSNP |
| 13 | g.32338064_32338065delinsGC | CA2082819990 | BRCA2 | c.3709_3710delinsGC (p.Ala1237=) c.3340_3341delinsGC (p.Ala1114=) n.3709_3710delinsGC | |
| 13 | g.32338065del | CA658653655 | BRCA2 | c.3710del (p.Ala1237ValfsTer2) c.3341del (p.Ala1114ValfsTer2) n.3710del | ClinVar dbSNP |
| 13 | g.32338065C>A | CA387778066 | BRCA2 | c.3710C>A (p.Ala1237Asp) c.3341C>A (p.Ala1114Asp) n.3710C>A | dbSNP |
| 13 | g.32338065C>G | CA387778067 | BRCA2 | c.3710C>G (p.Ala1237Gly) c.3341C>G (p.Ala1114Gly) n.3710C>G | dbSNP |
| 13 | g.32338065C>T | CA387778068 | BRCA2 | c.3710C>T (p.Ala1237Val) c.3341C>T (p.Ala1114Val) n.3710C>T | ClinVar dbSNP |
| 13 | g.32338066T>A | CA483437739 | BRCA2 | c.3711T>A (p.Ala1237=) c.3342T>A (p.Ala1114=) n.3711T>A | dbSNP |
| 13 | g.32338066T>C | CA018638 | BRCA2 | c.3711T>C (p.Ala1237=) c.3342T>C (p.Ala1114=) n.3711T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338066T>G | CA483437740 | BRCA2 | c.3711T>G (p.Ala1237=) c.3342T>G (p.Ala1114=) n.3711T>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338066T= | CA2082820004 | BRCA2 | c.3711T= (p.Ala1237=) c.3342T= (p.Ala1114=) n.3711T= | |
| 13 | g.32338067G>A | CA16619699 | BRCA2 | c.3712G>A (p.Val1238Met) c.3343G>A (p.Val1115Met) n.3712G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338067G>C | CA387778069 | BRCA2 | c.3712G>C (p.Val1238Leu) c.3343G>C (p.Val1115Leu) n.3712G>C | dbSNP |
| 13 | g.32338067G= | CA2082820015 | BRCA2 | c.3712G= (p.Val1238=) c.3343G= (p.Val1115=) n.3712G= | |
| 13 | g.32338067G>T | CA387778070 | BRCA2 | c.3712G>T (p.Val1238Leu) c.3343G>T (p.Val1115Leu) n.3712G>T | |
| 13 | g.32338068T>A | CA387778071 | BRCA2 | c.3713T>A (p.Val1238Glu) c.3344T>A (p.Val1115Glu) n.3713T>A | dbSNP |
| 13 | g.32338068T>C | CA387778073 | BRCA2 | c.3713T>C (p.Val1238Ala) c.3344T>C (p.Val1115Ala) n.3713T>C | ClinVar dbSNP |
| 13 | g.32338068T>G | CA387778072 | BRCA2 | c.3713T>G (p.Val1238Gly) c.3344T>G (p.Val1115Gly) n.3713T>G | dbSNP gnomAD v4 |
| 13 | g.32338068T= | CA2082820018 | BRCA2 | c.3713T= (p.Val1238=) c.3344T= (p.Val1115=) n.3713T= | |
| 13 | g.32338069G>A | CA6940719 | BRCA2 | c.3714G>A (p.Val1238=) c.3345G>A (p.Val1115=) n.3714G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338069G>C | CA483437742 | BRCA2 | c.3714G>C (p.Val1238=) c.3345G>C (p.Val1115=) n.3714G>C | dbSNP |
| 13 | g.32338069G= | CA2082820030 | BRCA2 | c.3714G= (p.Val1238=) c.3345G= (p.Val1115=) n.3714G= | |
| 13 | g.32338069G>T | CA483437743 | BRCA2 | c.3714G>T (p.Val1238=) c.3345G>T (p.Val1115=) n.3714G>T | |
| 13 | g.32338069_32338070delinsGA | CA2082820028 | BRCA2 | c.3714_3715delinsGA (p.Val1238=) c.3345_3346delinsGA (p.Val1115=) n.3714_3715delinsGA | |
| 13 | g.32338070A= | CA2082820044 | BRCA2 | c.3715A= (p.Lys1239=) c.3346A= (p.Lys1116=) n.3715A= | |
| 13 | g.32338070A>C | CA387778074 | BRCA2 | c.3715A>C (p.Lys1239Gln) c.3346A>C (p.Lys1116Gln) n.3715A>C | |
| 13 | g.32338070A>G | CA018644 | BRCA2 | c.3715A>G (p.Lys1239Glu) c.3346A>G (p.Lys1116Glu) n.3715A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338070A>T | CA387778075 | BRCA2 | c.3715A>T (p.Lys1239Ter) c.3346A>T (p.Lys1116Ter) n.3715A>T | ClinVar dbSNP |
| 13 | g.32338072dup | CA2695218192 | BRCA2 | c.3717dup (p.Leu1240ThrfsTer3) c.3348dup (p.Leu1117ThrfsTer3) n.3717dup | |
| 13 | g.32338072del | CA018654 | BRCA2 | c.3717del (p.Lys1239AsnfsTer20) c.3348del (p.Lys1116AsnfsTer20) n.3717del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338071_32338072del | CA2499222144 | BRCA2 | c.3716_3717del (p.Lys1239ThrfsTer3) c.3347_3348del (p.Lys1116ThrfsTer3) n.3716_3717del | ClinVar dbSNP |
| 13 | g.32338071A>C | CA387778076 | BRCA2 | c.3716A>C (p.Lys1239Thr) c.3347A>C (p.Lys1116Thr) n.3716A>C | dbSNP |
| 13 | g.32338071A>G | CA387778078 | BRCA2 | c.3716A>G (p.Lys1239Arg) c.3347A>G (p.Lys1116Arg) n.3716A>G | dbSNP |
| 13 | g.32338071A>T | CA387778077 | BRCA2 | c.3716A>T (p.Lys1239Ile) c.3347A>T (p.Lys1116Ile) n.3716A>T | dbSNP gnomAD v4 |
| 13 | g.32338072A= | CA2082820053 | BRCA2 | c.3717A= (p.Lys1239=) c.3348A= (p.Lys1116=) n.3717A= | |
| 13 | g.32338072A>C | CA018650 | BRCA2 | c.3717A>C (p.Lys1239Asn) c.3348A>C (p.Lys1116Asn) n.3717A>C | ClinVar dbSNP |
| 13 | g.32338072A>G | CA6940720 | BRCA2 | c.3717A>G (p.Lys1239=) c.3348A>G (p.Lys1116=) n.3717A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338072A>T | CA387778079 | BRCA2 | c.3717A>T (p.Lys1239Asn) c.3348A>T (p.Lys1116Asn) n.3717A>T | dbSNP |
| 13 | g.32338073C>A | CA387778080 | BRCA2 | c.3718C>A (p.Leu1240Met) c.3349C>A (p.Leu1117Met) n.3718C>A | ClinVar dbSNP |
| 13 | g.32338073C>G | CA387778081 | BRCA2 | c.3718C>G (p.Leu1240Val) c.3349C>G (p.Leu1117Val) n.3718C>G | ClinVar dbSNP |
| 13 | g.32338073C>T | CA483437747 | BRCA2 | c.3718C>T (p.Leu1240=) c.3349C>T (p.Leu1117=) n.3718C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338073_32338075delinsCTG | CA2082820065 | BRCA2 | c.3718_3720delinsCTG (p.Leu1240=) c.3349_3351delinsCTG (p.Leu1117=) n.3718_3720delinsCTG | |
| 13 | g.32338073_32338077delinsCTGTT | CA2082820064 | BRCA2 | c.3718_3722delinsCTGTT (p.Leu1240=) c.3349_3353delinsCTGTT (p.Leu1117=) n.3718_3722delinsCTGTT | |
| 13 | g.32338074T>A | CA387778082 | BRCA2 | c.3719T>A (p.Leu1240Gln) c.3350T>A (p.Leu1117Gln) n.3719T>A | dbSNP |
| 13 | g.32338074T>C | CA387778083 | BRCA2 | c.3719T>C (p.Leu1240Pro) c.3350T>C (p.Leu1117Pro) n.3719T>C | ClinVar dbSNP |
| 13 | g.32338074T>G | CA387778084 | BRCA2 | c.3719T>G (p.Leu1240Arg) c.3350T>G (p.Leu1117Arg) n.3719T>G | |
| 13 | g.32338074T= | CA2082820097 | BRCA2 | c.3719T= (p.Leu1240=) c.3350T= (p.Leu1117=) n.3719T= | |
| 13 | g.32338074dup | CA2573149331 | BRCA2 | c.3719dup (p.Phe1241ValfsTer2) c.3350dup (p.Phe1118ValfsTer2) n.3719dup | ClinVar dbSNP |
| 13 | g.32338074_32338075delinsAC | CA915948456 | BRCA2 | c.3719_3720delinsAC (p.Leu1240His) c.3350_3351delinsAC (p.Leu1117His) n.3719_3720delinsAC | ClinVar dbSNP |
| 13 | g.32338074_32338075delinsTG | CA2082820080 | BRCA2 | c.3719_3720delinsTG (p.Leu1240=) c.3350_3351delinsTG (p.Leu1117=) n.3719_3720delinsTG | |
| 13 | g.32338075_32338076del | CA645509344 | BRCA2 | c.3720_3721del (p.Phe1241Ter) c.3351_3352del (p.Phe1118Ter) n.3720_3721del | ClinVar dbSNP |
| 13 | g.32338075_32338078del | CA10586514 | BRCA2 | c.3720_3723del (p.Phe1241ValfsTer17) c.3351_3354del (p.Phe1118ValfsTer17) n.3720_3723del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338075G>A | CA6940721 | BRCA2 | c.3720G>A (p.Leu1240=) c.3351G>A (p.Leu1117=) n.3720G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338075G>C | CA483437748 | BRCA2 | c.3720G>C (p.Leu1240=) c.3351G>C (p.Leu1117=) n.3720G>C | |
| 13 | g.32338075G= | CA2082820116 | BRCA2 | c.3720G= (p.Leu1240=) c.3351G= (p.Leu1117=) n.3720G= | |
| 13 | g.32338075G>T | CA483437750 | BRCA2 | c.3720G>T (p.Leu1240=) c.3351G>T (p.Leu1117=) n.3720G>T | |
| 13 | g.32338075_32338076delinsGT | CA2082820118 | BRCA2 | c.3720_3721delinsGT (p.Leu1240=) c.3351_3352delinsGT (p.Leu1117=) n.3720_3721delinsGT | |
| 13 | g.32338075_32338076insAGA | CA2622600769 | BRCA2 | c.3720_3721insAGA (p.Leu1240_Phe1241insArg) c.3351_3352insAGA (p.Leu1117_Phe1118insArg) n.3720_3721insAGA | gnomAD v4 |
| 13 | g.32338076T>A | CA387778086 | BRCA2 | c.3721T>A (p.Phe1241Ile) c.3352T>A (p.Phe1118Ile) n.3721T>A | dbSNP |
| 13 | g.32338076T>C | CA387778085 | BRCA2 | c.3721T>C (p.Phe1241Leu) c.3352T>C (p.Phe1118Leu) n.3721T>C | ClinVar dbSNP |
| 13 | g.32338076T>G | CA387778087 | BRCA2 | c.3721T>G (p.Phe1241Val) c.3352T>G (p.Phe1118Val) n.3721T>G | ClinVar |
| 13 | g.32338078del | CA10589217 | BRCA2 | c.3723del (p.Phe1241LeufsTer18) c.3354del (p.Phe1118LeufsTer18) n.3723del | ClinVar dbSNP |
| 13 | g.32338076_32338077insCACAATAGTGATCTTGAGAATA | CA2622600770 | BRCA2 | c.3721_3722insCACAATAGTGATCTTGAGAATA (p.Phe1241SerfsTer3) c.3352_3353insCACAATAGTGATCTTGAGAATA (p.Phe1118SerfsTer3) n.3721_3722insCACAATAGTGATCTTGAGAATA | gnomAD v4 |
| 13 | g.32338077T>A | CA387778088 | BRCA2 | c.3722T>A (p.Phe1241Tyr) c.3353T>A (p.Phe1118Tyr) n.3722T>A | dbSNP |
| 13 | g.32338077T>C | CA387778089 | BRCA2 | c.3722T>C (p.Phe1241Ser) c.3353T>C (p.Phe1118Ser) n.3722T>C | ClinVar |
| 13 | g.32338077T>G | CA387778090 | BRCA2 | c.3722T>G (p.Phe1241Cys) c.3353T>G (p.Phe1118Cys) n.3722T>G | dbSNP |
| 13 | g.32338077_32338080delinsTTAG | CA2082820130 | BRCA2 | c.3722_3725delinsTTAG (p.Phe1241=) c.3353_3356delinsTTAG (p.Phe1118=) n.3722_3725delinsTTAG | |
| 13 | g.32338078T>A | CA387778091 | BRCA2 | c.3723T>A (p.Phe1241Leu) c.3354T>A (p.Phe1118Leu) n.3723T>A | dbSNP |
| 13 | g.32338078T>C | CA483437754 | BRCA2 | c.3723T>C (p.Phe1241=) c.3354T>C (p.Phe1118=) n.3723T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338078T>G | CA018663 | BRCA2 | c.3723T>G (p.Phe1241Leu) c.3354T>G (p.Phe1118Leu) n.3723T>G | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.32338078T= | CA2082820139 | BRCA2 | c.3723T= (p.Phe1241=) c.3354T= (p.Phe1118=) n.3723T= | |
| 13 | g.32338078_32338080delinsAT | CA018658 | BRCA2 | c.3723_3725delinsAT (p.Phe1241LeufsTer18) c.3354_3356delinsAT (p.Phe1118LeufsTer18) n.3723_3725delinsAT | ClinVar dbSNP |
| 13 | g.32338079A>C | CA387778094 | BRCA2 | c.3724A>C (p.Ser1242Arg) c.3355A>C (p.Ser1119Arg) n.3724A>C | gnomAD v4 |
| 13 | g.32338079A>G | CA387778092 | BRCA2 | c.3724A>G (p.Ser1242Gly) c.3355A>G (p.Ser1119Gly) n.3724A>G | |
| 13 | g.32338079A>T | CA387778093 | BRCA2 | c.3724A>T (p.Ser1242Cys) c.3355A>T (p.Ser1119Cys) n.3724A>T | dbSNP |
| 13 | g.32338079dup | CA10589218 | BRCA2 | c.3724dup (p.Ser1242LysfsTer2) c.3355dup (p.Ser1119LysfsTer2) n.3724dup | ClinVar dbSNP |
| 13 | g.32338080G>A | CA387778095 | BRCA2 | c.3725G>A (p.Ser1242Asn) c.3356G>A (p.Ser1119Asn) n.3725G>A | ClinVar dbSNP |
| 13 | g.32338080G>C | CA387778096 | BRCA2 | c.3725G>C (p.Ser1242Thr) c.3356G>C (p.Ser1119Thr) n.3725G>C | ClinVar dbSNP |
| 13 | g.32338080G= | CA2082820159 | BRCA2 | c.3725G= (p.Ser1242=) c.3356G= (p.Ser1119=) n.3725G= | |
| 13 | g.32338080G>T | CA387778097 | BRCA2 | c.3725G>T (p.Ser1242Ile) c.3356G>T (p.Ser1119Ile) n.3725G>T | dbSNP |
| 13 | g.32338081T>A | CA387778098 | BRCA2 | c.3726T>A (p.Ser1242Arg) c.3357T>A (p.Ser1119Arg) n.3726T>A | dbSNP |
| 13 | g.32338081T>C | CA483437758 | BRCA2 | c.3726T>C (p.Ser1242=) c.3357T>C (p.Ser1119=) n.3726T>C | ClinVar |
| 13 | g.32338081T>G | CA387778099 | BRCA2 | c.3726T>G (p.Ser1242Arg) c.3357T>G (p.Ser1119Arg) n.3726T>G | dbSNP |
| 13 | g.32338081T= | CA2082820165 | BRCA2 | c.3726T= (p.Ser1242=) c.3357T= (p.Ser1119=) n.3726T= | |
| 13 | g.32338082G>A | CA018666 | BRCA2 | c.3727G>A (p.Asp1243Asn) c.3358G>A (p.Asp1120Asn) n.3727G>A | ClinVar dbSNP |
| 13 | g.32338082G>C | CA387778101 | BRCA2 | c.3727G>C (p.Asp1243His) c.3358G>C (p.Asp1120His) n.3727G>C | dbSNP |
| 13 | g.32338082G= | CA2082820169 | BRCA2 | c.3727G= (p.Asp1243=) c.3358G= (p.Asp1120=) n.3727G= | |
| 13 | g.32338082G>T | CA387778100 | BRCA2 | c.3727G>T (p.Asp1243Tyr) c.3358G>T (p.Asp1120Tyr) n.3727G>T | dbSNP |
| 13 | g.32338083A>C | CA387778102 | BRCA2 | c.3728A>C (p.Asp1243Ala) c.3359A>C (p.Asp1120Ala) n.3728A>C | ClinVar |
| 13 | g.32338083A>G | CA387778103 | BRCA2 | c.3728A>G (p.Asp1243Gly) c.3359A>G (p.Asp1120Gly) n.3728A>G | dbSNP |
| 13 | g.32338083A>T | CA387778104 | BRCA2 | c.3728A>T (p.Asp1243Val) c.3359A>T (p.Asp1120Val) n.3728A>T | dbSNP |
| 13 | g.32338083dup | CA10589219 | BRCA2 | c.3728dup (p.Asp1243GlufsTer3) c.3359dup (p.Asp1120GlufsTer3) n.3728dup | ClinVar dbSNP |
| 13 | g.32338083_32338087delinsATATT | CA2082820176 | BRCA2 | c.3728_3732delinsATATT (p.Asp1243=) c.3359_3363delinsATATT (p.Asp1120=) n.3728_3732delinsATATT | |
| 13 | g.32338084T>A | CA387778105 | BRCA2 | c.3729T>A (p.Asp1243Glu) c.3360T>A (p.Asp1120Glu) n.3729T>A | dbSNP |
| 13 | g.32338084T>C | CA483437761 | BRCA2 | c.3729T>C (p.Asp1243=) c.3360T>C (p.Asp1120=) n.3729T>C | dbSNP |
| 13 | g.32338084T>G | CA387778106 | BRCA2 | c.3729T>G (p.Asp1243Glu) c.3360T>G (p.Asp1120Glu) n.3729T>G | dbSNP |
| 13 | g.32338084_32338087del | CA1139663162 | BRCA2 | c.3729_3732del (p.Asp1243GlufsTer15) c.3360_3363del (p.Asp1120GlufsTer15) n.3729_3732del | ClinVar dbSNP |
| 13 | g.32338084_32338089delinsTATTGA | CA2082820186 | BRCA2 | c.3729_3734delinsTATTGA (p.Asp1243=) c.3360_3365delinsTATTGA (p.Asp1120=) n.3729_3734delinsTATTGA | |
| 13 | g.32338085A= | CA2082820194 | BRCA2 | c.3730A= (p.Ile1244=) c.3361A= (p.Ile1121=) n.3730A= | |
| 13 | g.32338085A>C | CA387778107 | BRCA2 | c.3730A>C (p.Ile1244Leu) c.3361A>C (p.Ile1121Leu) n.3730A>C | |
| 13 | g.32338085A>G | CA018673 | BRCA2 | c.3730A>G (p.Ile1244Val) c.3361A>G (p.Ile1121Val) n.3730A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338085A>T | CA387778108 | BRCA2 | c.3730A>T (p.Ile1244Phe) c.3361A>T (p.Ile1121Phe) n.3730A>T | dbSNP |
| 13 | g.32338086T>A | CA387778109 | BRCA2 | c.3731T>A (p.Ile1244Asn) c.3362T>A (p.Ile1121Asn) n.3731T>A | dbSNP |
| 13 | g.32338086T>C | CA018674 | BRCA2 | c.3731T>C (p.Ile1244Thr) c.3362T>C (p.Ile1121Thr) n.3731T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338086T>G | CA387778110 | BRCA2 | c.3731T>G (p.Ile1244Ser) c.3362T>G (p.Ile1121Ser) n.3731T>G | |
| 13 | g.32338086T= | CA2082820200 | BRCA2 | c.3731T= (p.Ile1244=) c.3362T= (p.Ile1121=) n.3731T= | |
| 13 | g.32338087T>A | CA483437764 | BRCA2 | c.3732T>A (p.Ile1244=) c.3363T>A (p.Ile1121=) n.3732T>A | dbSNP |
| 13 | g.32338087T>C | CA483437765 | BRCA2 | c.3732T>C (p.Ile1244=) c.3363T>C (p.Ile1121=) n.3732T>C | ClinVar |
| 13 | g.32338087T>G | CA387778111 | BRCA2 | c.3732T>G (p.Ile1244Met) c.3363T>G (p.Ile1121Met) n.3732T>G | gnomAD v4 |
| 13 | g.32338088G>A | CA387778112 | BRCA2 | c.3733G>A (p.Glu1245Lys) c.3364G>A (p.Glu1122Lys) n.3733G>A | ClinVar dbSNP |
| 13 | g.32338088G>C | CA387778116 | BRCA2 | c.3733G>C (p.Glu1245Gln) c.3364G>C (p.Glu1122Gln) n.3733G>C | dbSNP |
| 13 | g.32338088G>T | CA387778114 | BRCA2 | c.3733G>T (p.Glu1245Ter) c.3364G>T (p.Glu1122Ter) n.3733G>T | |
| 13 | g.32338088_32338091del | CA2575387795 | BRCA2 | c.3733_3736del (p.Glu1245IlefsTer13) c.3364_3367del (p.Glu1122IlefsTer13) n.3733_3736del | |
| 13 | g.32338089A>C | CA387778117 | BRCA2 | c.3734A>C (p.Glu1245Ala) c.3365A>C (p.Glu1122Ala) n.3734A>C | |
| 13 | g.32338089A>G | CA387778119 | BRCA2 | c.3734A>G (p.Glu1245Gly) c.3365A>G (p.Glu1122Gly) n.3734A>G | |
| 13 | g.32338089A>T | CA387778120 | BRCA2 | c.3734A>T (p.Glu1245Val) c.3365A>T (p.Glu1122Val) n.3734A>T | |
| 13 | g.32338090G>A | CA10583094 | BRCA2 | c.3735G>A (p.Glu1245=) c.3366G>A (p.Glu1122=) n.3735G>A | ClinVar dbSNP |
| 13 | g.32338090G>C | CA387778122 | BRCA2 | c.3735G>C (p.Glu1245Asp) c.3366G>C (p.Glu1122Asp) n.3735G>C | dbSNP |
| 13 | g.32338090G= | CA2082820227 | BRCA2 | c.3735G= (p.Glu1245=) c.3366G= (p.Glu1122=) n.3735G= | |
| 13 | g.32338090G>T | CA387778123 | BRCA2 | c.3735G>T (p.Glu1245Asp) c.3366G>T (p.Glu1122Asp) n.3735G>T | |
| 13 | g.32338090_32338091delinsGA | CA2082820209 | BRCA2 | c.3735_3736delinsGA (p.Glu1245=) c.3366_3367delinsGA (p.Glu1122=) n.3735_3736delinsGA | |
| 13 | g.32338091A>C | CA387778125 | BRCA2 | c.3736A>C (p.Asn1246His) c.3367A>C (p.Asn1123His) n.3736A>C | |
| 13 | g.32338091A>G | CA387778127 | BRCA2 | c.3736A>G (p.Asn1246Asp) c.3367A>G (p.Asn1123Asp) n.3736A>G | dbSNP |
| 13 | g.32338091A>T | CA387778129 | BRCA2 | c.3736A>T (p.Asn1246Tyr) c.3367A>T (p.Asn1123Tyr) n.3736A>T | dbSNP |
| 13 | g.32338092del | CA018679 | BRCA2 | c.3737del (p.Asn1246IlefsTer13) c.3368del (p.Asn1123IlefsTer13) n.3737del | ClinVar dbSNP |
| 13 | g.32338092A= | CA2082820261 | BRCA2 | c.3737A= (p.Asn1246=) c.3368A= (p.Asn1123=) n.3737A= | |
| 13 | g.32338092A>C | CA387778131 | BRCA2 | c.3737A>C (p.Asn1246Thr) c.3368A>C (p.Asn1123Thr) n.3737A>C | ClinVar dbSNP |
| 13 | g.32338092A>G | CA387778132 | BRCA2 | c.3737A>G (p.Asn1246Ser) c.3368A>G (p.Asn1123Ser) n.3737A>G | ClinVar dbSNP |
| 13 | g.32338092A>T | CA10579587 | BRCA2 | c.3737A>T (p.Asn1246Ile) c.3368A>T (p.Asn1123Ile) n.3737A>T | ClinVar dbSNP |
| 13 | g.32338092_32338096delinsATATT | CA2082820250 | BRCA2 | c.3737_3741delinsATATT (p.Asn1246=) c.3368_3372delinsATATT (p.Asn1123=) n.3737_3741delinsATATT | |
| 13 | g.32338093T>A | CA387778137 | BRCA2 | c.3738T>A (p.Asn1246Lys) c.3369T>A (p.Asn1123Lys) n.3738T>A | dbSNP |
| 13 | g.32338093T>C | CA483437769 | BRCA2 | c.3738T>C (p.Asn1246=) c.3369T>C (p.Asn1123=) n.3738T>C | COSMIC COSMIC |
| 13 | g.32338093T>G | CA387778135 | BRCA2 | c.3738T>G (p.Asn1246Lys) c.3369T>G (p.Asn1123Lys) n.3738T>G | |
| 13 | g.32338093_32338094delinsTA | CA2082820276 | BRCA2 | c.3738_3739delinsTA (p.Asn1246=) c.3369_3370delinsTA (p.Asn1123=) n.3738_3739delinsTA | |
| 13 | g.32338093_32338096del | CA658683869 | BRCA2 | c.3738_3741del (p.Asn1246LysfsTer12) c.3369_3372del (p.Asn1123LysfsTer12) n.3738_3741del | ClinVar dbSNP |
| 13 | g.32338094del | CA10589220 | BRCA2 | c.3739del (p.Ile1247LeufsTer12) c.3370del (p.Ile1124LeufsTer12) n.3739del | ClinVar dbSNP |
| 13 | g.32338094A= | CA2082820289 | BRCA2 | c.3739A= (p.Ile1247=) c.3370A= (p.Ile1124=) n.3739A= | |
| 13 | g.32338094A>C | CA387778139 | BRCA2 | c.3739A>C (p.Ile1247Leu) c.3370A>C (p.Ile1124Leu) n.3739A>C | |
| 13 | g.32338094A>G | CA387778141 | BRCA2 | c.3739A>G (p.Ile1247Val) c.3370A>G (p.Ile1124Val) n.3739A>G | ClinVar dbSNP |
| 13 | g.32338094A>T | CA387778142 | BRCA2 | c.3739A>T (p.Ile1247Phe) c.3370A>T (p.Ile1124Phe) n.3739A>T | |
| 13 | g.32338094_32338095delinsAT | CA2082820288 | BRCA2 | c.3739_3740delinsAT (p.Ile1247=) c.3370_3371delinsAT (p.Ile1124=) n.3739_3740delinsAT | |
| 13 | g.32338095T>A | CA387778145 | BRCA2 | c.3740T>A (p.Ile1247Asn) c.3371T>A (p.Ile1124Asn) n.3740T>A | dbSNP |
| 13 | g.32338095T>C | CA387778146 | BRCA2 | c.3740T>C (p.Ile1247Thr) c.3371T>C (p.Ile1124Thr) n.3740T>C | gnomAD v4 |
| 13 | g.32338095T>G | CA387778148 | BRCA2 | c.3740T>G (p.Ile1247Ser) c.3371T>G (p.Ile1124Ser) n.3740T>G | |
| 13 | g.32338096del | CA10589221 | BRCA2 | c.3741del (p.Ser1248ValfsTer11) c.3372del (p.Ser1125ValfsTer11) n.3741del | ClinVar dbSNP |
| 13 | g.32338096T>A | CA483437771 | BRCA2 | c.3741T>A (p.Ile1247=) c.3372T>A (p.Ile1124=) n.3741T>A | |
| 13 | g.32338096T>C | CA483437772 | BRCA2 | c.3741T>C (p.Ile1247=) c.3372T>C (p.Ile1124=) n.3741T>C | ClinVar dbSNP |
| 13 | g.32338096T>G | CA387778150 | BRCA2 | c.3741T>G (p.Ile1247Met) c.3372T>G (p.Ile1124Met) n.3741T>G | |
| 13 | g.32338096_32338100delinsTAGTG | CA2082820294 | BRCA2 | c.3741_3745delinsTAGTG (p.Ile1247=) c.3372_3376delinsTAGTG (p.Ile1124=) n.3741_3745delinsTAGTG | |
| 13 | g.32338097del | CA2739277536 | BRCA2 | c.3742del (p.Ser1248ValfsTer11) c.3373del (p.Ser1125ValfsTer11) n.3742del | ClinVar |
| 13 | g.32338097A= | CA2082820307 | BRCA2 | c.3742A= (p.Ser1248=) c.3373A= (p.Ser1125=) n.3742A= | |
| 13 | g.32338097A>C | CA018688 | BRCA2 | c.3742A>C (p.Ser1248Arg) c.3373A>C (p.Ser1125Arg) n.3742A>C | ClinVar dbSNP |
| 13 | g.32338097A>G | CA387778151 | BRCA2 | c.3742A>G (p.Ser1248Gly) c.3373A>G (p.Ser1125Gly) n.3742A>G | |
| 13 | g.32338097A>T | CA387778153 | BRCA2 | c.3742A>T (p.Ser1248Cys) c.3373A>T (p.Ser1125Cys) n.3742A>T | |
| 13 | g.32338099_32338102del | CA018693 | BRCA2 | c.3744_3747del (p.Ser1248ArgfsTer10) c.3375_3378del (p.Ser1125ArgfsTer10) n.3744_3747del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338098G>A | CA387778157 | BRCA2 | c.3743G>A (p.Ser1248Asn) c.3374G>A (p.Ser1125Asn) n.3743G>A | ClinVar dbSNP |
| 13 | g.32338098G>C | CA387778155 | BRCA2 | c.3743G>C (p.Ser1248Thr) c.3374G>C (p.Ser1125Thr) n.3743G>C | dbSNP |
| 13 | g.32338098G= | CA2082820313 | BRCA2 | c.3743G= (p.Ser1248=) c.3374G= (p.Ser1125=) n.3743G= | |
| 13 | g.32338098G>T | CA387778156 | BRCA2 | c.3743G>T (p.Ser1248Ile) c.3374G>T (p.Ser1125Ile) n.3743G>T | ClinVar dbSNP |
| 13 | g.32338099T>A | CA387778159 | BRCA2 | c.3744T>A (p.Ser1248Arg) c.3375T>A (p.Ser1125Arg) n.3744T>A | ClinVar |
| 13 | g.32338099T>C | CA483437774 | BRCA2 | c.3744T>C (p.Ser1248=) c.3375T>C (p.Ser1125=) n.3744T>C | ClinVar dbSNP |
| 13 | g.32338099T>G | CA387778160 | BRCA2 | c.3744T>G (p.Ser1248Arg) c.3375T>G (p.Ser1125Arg) n.3744T>G | |
| 13 | g.32338099T= | CA2082820317 | BRCA2 | c.3744T= (p.Ser1248=) c.3375T= (p.Ser1125=) n.3744T= | |
| 13 | g.32338100G>A | CA387778162 | BRCA2 | c.3745G>A (p.Glu1249Lys) c.3376G>A (p.Glu1126Lys) n.3745G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338100G>C | CA387778164 | BRCA2 | c.3745G>C (p.Glu1249Gln) c.3376G>C (p.Glu1126Gln) n.3745G>C | dbSNP |
| 13 | g.32338100G= | CA2082820320 | BRCA2 | c.3745G= (p.Glu1249=) c.3376G= (p.Glu1126=) n.3745G= | |
| 13 | g.32338100G>T | CA387778165 | BRCA2 | c.3745G>T (p.Glu1249Ter) c.3376G>T (p.Glu1126Ter) n.3745G>T | |
| 13 | g.32338101A>C | CA387778167 | BRCA2 | c.3746A>C (p.Glu1249Ala) c.3377A>C (p.Glu1126Ala) n.3746A>C | |
| 13 | g.32338101A>G | CA387778168 | BRCA2 | c.3746A>G (p.Glu1249Gly) c.3377A>G (p.Glu1126Gly) n.3746A>G | dbSNP |
| 13 | g.32338101A>T | CA387778169 | BRCA2 | c.3746A>T (p.Glu1249Val) c.3377A>T (p.Glu1126Val) n.3746A>T | dbSNP |
| 13 | g.32338102G>A | CA483437777 | BRCA2 | c.3747G>A (p.Glu1249=) c.3378G>A (p.Glu1126=) n.3747G>A | ClinVar dbSNP |
| 13 | g.32338102G>C | CA387778171 | BRCA2 | c.3747G>C (p.Glu1249Asp) c.3378G>C (p.Glu1126Asp) n.3747G>C | dbSNP |
| 13 | g.32338102G>T | CA387778172 | BRCA2 | c.3747G>T (p.Glu1249Asp) c.3378G>T (p.Glu1126Asp) n.3747G>T | dbSNP |
| 13 | g.32338103del | CA2695199705 | BRCA2 | c.3748del (p.Glu1250LysfsTer9) c.3379del (p.Glu1127LysfsTer9) n.3748del | ClinVar |
| 13 | g.32338102_32338103insA | CA2695218193 | BRCA2 | c.3747_3748insA (p.Glu1250ArgfsTer15) c.3378_3379insA (p.Glu1127ArgfsTer15) n.3747_3748insA | |
| 13 | g.32338103G>A | CA10579588 | BRCA2 | c.3748G>A (p.Glu1250Lys) c.3379G>A (p.Glu1127Lys) n.3748G>A | ClinVar dbSNP |
| 13 | g.32338103G>C | CA387778175 | BRCA2 | c.3748G>C (p.Glu1250Gln) c.3379G>C (p.Glu1127Gln) n.3748G>C | dbSNP |
| 13 | g.32338103G= | CA2082820378 | BRCA2 | c.3748G= (p.Glu1250=) c.3379G= (p.Glu1127=) n.3748G= | |
| 13 | g.32338103G>T | CA018710 | BRCA2 | c.3748G>T (p.Glu1250Ter) c.3379G>T (p.Glu1127Ter) n.3748G>T | ClinVar dbSNP |
| 13 | g.32338104A= | CA2082820393 | BRCA2 | c.3749A= (p.Glu1250=) c.3380A= (p.Glu1127=) n.3749A= | |
| 13 | g.32338104A>C | CA387778177 | BRCA2 | c.3749A>C (p.Glu1250Ala) c.3380A>C (p.Glu1127Ala) n.3749A>C | |
| 13 | g.32338104A>G | CA018716 | BRCA2 | c.3749A>G (p.Glu1250Gly) c.3380A>G (p.Glu1127Gly) n.3749A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338104A>T | CA387778179 | BRCA2 | c.3749A>T (p.Glu1250Val) c.3380A>T (p.Glu1127Val) n.3749A>T | ClinVar dbSNP |
| 13 | g.32338106dup | CA018719 | BRCA2 | c.3751dup (p.Thr1251AsnfsTer14) c.3382dup (p.Thr1128AsnfsTer14) n.3751dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32338105A>C | CA387778180 | BRCA2 | c.3750A>C (p.Glu1250Asp) c.3381A>C (p.Glu1127Asp) n.3750A>C | dbSNP |
| 13 | g.32338105A>G | CA483437778 | BRCA2 | c.3750A>G (p.Glu1250=) c.3381A>G (p.Glu1127=) n.3750A>G | dbSNP |
| 13 | g.32338105A>T | CA387778181 | BRCA2 | c.3750A>T (p.Glu1250Asp) c.3381A>T (p.Glu1127Asp) n.3750A>T | dbSNP |
| 13 | g.32338106A>C | CA387778183 | BRCA2 | c.3751A>C (p.Thr1251Pro) c.3382A>C (p.Thr1128Pro) n.3751A>C | ClinVar |
| 13 | g.32338106A>G | CA387778186 | BRCA2 | c.3751A>G (p.Thr1251Ala) c.3382A>G (p.Thr1128Ala) n.3751A>G | dbSNP |
| 13 | g.32338106A>T | CA387778184 | BRCA2 | c.3751A>T (p.Thr1251Ser) c.3382A>T (p.Thr1128Ser) n.3751A>T | ClinVar dbSNP |
| 13 | g.32338107C>A | CA387778188 | BRCA2 | c.3752C>A (p.Thr1251Asn) c.3383C>A (p.Thr1128Asn) n.3752C>A | ClinVar dbSNP |
| 13 | g.32338107C= | CA2082820400 | BRCA2 | c.3752C= (p.Thr1251=) c.3383C= (p.Thr1128=) n.3752C= | |
| 13 | g.32338107C>G | CA387778189 | BRCA2 | c.3752C>G (p.Thr1251Ser) c.3383C>G (p.Thr1128Ser) n.3752C>G | dbSNP |
| 13 | g.32338107C>T | CA387778191 | BRCA2 | c.3752C>T (p.Thr1251Ile) c.3383C>T (p.Thr1128Ile) n.3752C>T | ClinVar dbSNP |
| 13 | g.32338107_32338108delinsCT | CA2082820402 | BRCA2 | c.3752_3753delinsCT (p.Thr1251=) c.3383_3384delinsCT (p.Thr1128=) n.3752_3753delinsCT | |
| 13 | g.32338108T>A | CA483437783 | BRCA2 | c.3753T>A (p.Thr1251=) c.3384T>A (p.Thr1128=) n.3753T>A | dbSNP |
| 13 | g.32338108T>C | CA483437784 | BRCA2 | c.3753T>C (p.Thr1251=) c.3384T>C (p.Thr1128=) n.3753T>C | ClinVar dbSNP |
| 13 | g.32338108T>G | CA483437785 | BRCA2 | c.3753T>G (p.Thr1251=) c.3384T>G (p.Thr1128=) n.3753T>G | |
| 13 | g.32338109del | CA1139663165 | BRCA2 | c.3754del (p.Ser1252LeufsTer7) c.3385del (p.Ser1129LeufsTer7) n.3754del | ClinVar dbSNP |
| 13 | g.32338109T>A | CA387778193 | BRCA2 | c.3754T>A (p.Ser1252Thr) c.3385T>A (p.Ser1129Thr) n.3754T>A | |
| 13 | g.32338109T>C | CA387778195 | BRCA2 | c.3754T>C (p.Ser1252Pro) c.3385T>C (p.Ser1129Pro) n.3754T>C | |
| 13 | g.32338109T>G | CA387778196 | BRCA2 | c.3754T>G (p.Ser1252Ala) c.3385T>G (p.Ser1129Ala) n.3754T>G | |
| 13 | g.32338110C>A | CA387778198 | BRCA2 | c.3755C>A (p.Ser1252Tyr) c.3386C>A (p.Ser1129Tyr) n.3755C>A | ClinVar dbSNP |
| 13 | g.32338110C= | CA2082820423 | BRCA2 | c.3755C= (p.Ser1252=) c.3386C= (p.Ser1129=) n.3755C= | |
| 13 | g.32338110C>G | CA387778200 | BRCA2 | c.3755C>G (p.Ser1252Cys) c.3386C>G (p.Ser1129Cys) n.3755C>G | dbSNP |
| 13 | g.32338110C>T | CA387778201 | BRCA2 | c.3755C>T (p.Ser1252Phe) c.3386C>T (p.Ser1129Phe) n.3755C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32338111T>A | CA483437787 | BRCA2 | c.3756T>A (p.Ser1252=) c.3387T>A (p.Ser1129=) n.3756T>A | dbSNP |
| 13 | g.32338111T>C | CA483437788 | BRCA2 | c.3756T>C (p.Ser1252=) c.3387T>C (p.Ser1129=) n.3756T>C | gnomAD v4 |
| 13 | g.32338111T>G | CA483437789 | BRCA2 | c.3756T>G (p.Ser1252=) c.3387T>G (p.Ser1129=) n.3756T>G | |
| 13 | g.32338112G>A | CA387778202 | BRCA2 | c.3757G>A (p.Ala1253Thr) c.3388G>A (p.Ala1130Thr) n.3757G>A | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32338112G>C | CA387778205 | BRCA2 | c.3757G>C (p.Ala1253Pro) c.3388G>C (p.Ala1130Pro) n.3757G>C | dbSNP |
| 13 | g.32338112G= | CA2082820430 | BRCA2 | c.3757G= (p.Ala1253=) c.3388G= (p.Ala1130=) n.3757G= | |
| 13 | g.32338112G>T | CA387778206 | BRCA2 | c.3757G>T (p.Ala1253Ser) c.3388G>T (p.Ala1130Ser) n.3757G>T | ClinVar dbSNP |
| 13 | g.32338113C>A | CA387778208 | BRCA2 | c.3758C>A (p.Ala1253Glu) c.3389C>A (p.Ala1130Glu) n.3758C>A | dbSNP |
| 13 | g.32338113C= | CA2082820447 | BRCA2 | c.3758C= (p.Ala1253=) c.3389C= (p.Ala1130=) n.3758C= | |
| 13 | g.32338113C>G | CA387778210 | BRCA2 | c.3758C>G (p.Ala1253Gly) c.3389C>G (p.Ala1130Gly) n.3758C>G | dbSNP gnomAD v4 |
| 13 | g.32338113C>T | CA018726 | BRCA2 | c.3758C>T (p.Ala1253Val) c.3389C>T (p.Ala1130Val) n.3758C>T | ClinVar dbSNP |
| 13 | g.32338114A>C | CA483437793 | BRCA2 | c.3759A>C (p.Ala1253=) c.3390A>C (p.Ala1130=) n.3759A>C | |
| 13 | g.32338114A>G | CA483437795 | BRCA2 | c.3759A>G (p.Ala1253=) c.3390A>G (p.Ala1130=) n.3759A>G | ClinVar |
| 13 | g.32338114A>T | CA483437797 | BRCA2 | c.3759A>T (p.Ala1253=) c.3390A>T (p.Ala1130=) n.3759A>T | dbSNP |
| 13 | g.32338116_32338117del | CA1139770411 | BRCA2 | c.3761_3762del (p.Glu1254GlyfsTer10) c.3392_3393del (p.Glu1131GlyfsTer10) n.3761_3762del | |
| 13 | g.32338115G>A | CA6940722 | BRCA2 | c.3760G>A (p.Glu1254Lys) c.3391G>A (p.Glu1131Lys) n.3760G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338115G>C | CA387778213 | BRCA2 | c.3760G>C (p.Glu1254Gln) c.3391G>C (p.Glu1131Gln) n.3760G>C | dbSNP |
| 13 | g.32338115G= | CA2082820453 | BRCA2 | c.3760G= (p.Glu1254=) c.3391G= (p.Glu1131=) n.3760G= | |
| 13 | g.32338115G>T | CA387778214 | BRCA2 | c.3760G>T (p.Glu1254Ter) c.3391G>T (p.Glu1131Ter) n.3760G>T | |
| 13 | g.32338115_32338119delinsGAGGT | CA2082820457 | BRCA2 | c.3760_3764delinsGAGGT (p.Glu1254=) c.3391_3395delinsGAGGT (p.Glu1131=) n.3760_3764delinsGAGGT | |
| 13 | g.32338116A>C | CA387778215 | BRCA2 | c.3761A>C (p.Glu1254Ala) c.3392A>C (p.Glu1131Ala) n.3761A>C | |
| 13 | g.32338116A>G | CA387778217 | BRCA2 | c.3761A>G (p.Glu1254Gly) c.3392A>G (p.Glu1131Gly) n.3761A>G | dbSNP |
| 13 | g.32338116A>T | CA387778218 | BRCA2 | c.3761A>T (p.Glu1254Val) c.3392A>T (p.Glu1131Val) n.3761A>T | |
| 13 | g.32338116_32338119delinsTTTATCTTCAAGTAAGTTTATCTTCAAGTAAATATCTTCAAGTAA | CA658683870 | BRCA2 | c.3761_3764delinsTTTATCTTCAAGTAAGTTTATCTTCAAGTAAATATCTTCAAGTAA (p.Glu1254ValfsTer19) c.3392_3395delinsTTTATCTTCAAGTAAGTTTATCTTCAAGTAAATATCTTCAAGTAA (p.Glu1131ValfsTer19) n.3761_3764delinsTTTATCTTCAAGTAAGTTTATCTTCAAGTAAATATCTTCAAGTAA | ClinVar dbSNP |
| 13 | g.32338117G>A | CA018737 | BRCA2 | c.3762G>A (p.Glu1254=) c.3393G>A (p.Glu1131=) n.3762G>A | ClinVar dbSNP |
| 13 | g.32338117G>C | CA387778220 | BRCA2 | c.3762G>C (p.Glu1254Asp) c.3393G>C (p.Glu1131Asp) n.3762G>C | dbSNP |
| 13 | g.32338117G= | CA2082820473 | BRCA2 | c.3762G= (p.Glu1254=) c.3393G= (p.Glu1131=) n.3762G= | |
| 13 | g.32338117G>T | CA6940723 | BRCA2 | c.3762G>T (p.Glu1254Asp) c.3393G>T (p.Glu1131Asp) n.3762G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338118G>A | CA387778224 | BRCA2 | c.3763G>A (p.Val1255Ile) c.3394G>A (p.Val1132Ile) n.3763G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32338118G>C | CA387778225 | BRCA2 | c.3763G>C (p.Val1255Leu) c.3394G>C (p.Val1132Leu) n.3763G>C | dbSNP |
| 13 | g.32338118G= | CA2082820486 | BRCA2 | c.3763G= (p.Val1255=) c.3394G= (p.Val1132=) n.3763G= | |
| 13 | g.32338118G>T | CA018742 | BRCA2 | c.3763G>T (p.Val1255Leu) c.3394G>T (p.Val1132Leu) n.3763G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338119T>A | CA387778232 | BRCA2 | c.3764T>A (p.Val1255Glu) c.3395T>A (p.Val1132Glu) n.3764T>A | dbSNP |
| 13 | g.32338119T>C | CA387778230 | BRCA2 | c.3764T>C (p.Val1255Ala) c.3395T>C (p.Val1132Ala) n.3764T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338119T>G | CA387778229 | BRCA2 | c.3764T>G (p.Val1255Gly) c.3395T>G (p.Val1132Gly) n.3764T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32338119T= | CA2082820496 | BRCA2 | c.3764T= (p.Val1255=) c.3395T= (p.Val1132=) n.3764T= | |
| 13 | g.32338120A= | CA2082820507 | BRCA2 | c.3765A= (p.Val1255=) c.3396A= (p.Val1132=) n.3765A= | |
| 13 | g.32338120A>C | CA483437900 | BRCA2 | c.3765A>C (p.Val1255=) c.3396A>C (p.Val1132=) n.3765A>C | |
| 13 | g.32338120A>G | CA247505836 | BRCA2 | c.3765A>G (p.Val1255=) c.3396A>G (p.Val1132=) n.3765A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338120A>T | CA16613871 | BRCA2 | c.3765A>T (p.Val1255=) c.3396A>T (p.Val1132=) n.3765A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338121C>A | CA387778237 | BRCA2 | c.3766C>A (p.His1256Asn) c.3397C>A (p.His1133Asn) n.3766C>A | |
| 13 | g.32338121C>G | CA387778239 | BRCA2 | c.3766C>G (p.His1256Asp) c.3397C>G (p.His1133Asp) n.3766C>G | ClinVar dbSNP |
| 13 | g.32338121C>T | CA387778240 | BRCA2 | c.3766C>T (p.His1256Tyr) c.3397C>T (p.His1133Tyr) n.3766C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338121_32338122delinsCA | CA2082820514 | BRCA2 | c.3766_3767delinsCA (p.His1256=) c.3397_3398delinsCA (p.His1133=) n.3766_3767delinsCA | |
| 13 | g.32338122del | CA658823692 | BRCA2 | c.3767del (p.His1256LeufsTer3) c.3398del (p.His1133LeufsTer3) n.3767del | ClinVar dbSNP |
| 13 | g.32338122A= | CA2082820523 | BRCA2 | c.3767A= (p.His1256=) c.3398A= (p.His1133=) n.3767A= | |
| 13 | g.32338122A>C | CA018748 | BRCA2 | c.3767A>C (p.His1256Pro) c.3398A>C (p.His1133Pro) n.3767A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32338122A>G | CA018755 | BRCA2 | c.3767A>G (p.His1256Arg) c.3398A>G (p.His1133Arg) n.3767A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338122A>T | CA387778245 | BRCA2 | c.3767A>T (p.His1256Leu) c.3398A>T (p.His1133Leu) n.3767A>T | |
| 13 | g.32338123T>A | CA387778247 | BRCA2 | c.3768T>A (p.His1256Gln) c.3399T>A (p.His1133Gln) n.3768T>A | ClinVar dbSNP |
| 13 | g.32338123T>C | CA483437904 | BRCA2 | c.3768T>C (p.His1256=) c.3399T>C (p.His1133=) n.3768T>C | dbSNP |
| 13 | g.32338123T>G | CA387778250 | BRCA2 | c.3768T>G (p.His1256Gln) c.3399T>G (p.His1133Gln) n.3768T>G | gnomAD v4 |
| 13 | g.32338123T= | CA2082820530 | BRCA2 | c.3768T= (p.His1256=) c.3399T= (p.His1133=) n.3768T= | |
| 13 | g.32338124C>A | CA16614137 | BRCA2 | c.3769C>A (p.Pro1257Thr) c.3400C>A (p.Pro1134Thr) n.3769C>A | ClinVar dbSNP |
| 13 | g.32338124C= | CA2082820546 | BRCA2 | c.3769C= (p.Pro1257=) c.3400C= (p.Pro1134=) n.3769C= | |
| 13 | g.32338124C>G | CA387778253 | BRCA2 | c.3769C>G (p.Pro1257Ala) c.3400C>G (p.Pro1134Ala) n.3769C>G | ClinVar dbSNP |
| 13 | g.32338124C>T | CA387778254 | BRCA2 | c.3769C>T (p.Pro1257Ser) c.3400C>T (p.Pro1134Ser) n.3769C>T | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32338125C>A | CA387778259 | BRCA2 | c.3770C>A (p.Pro1257Gln) c.3401C>A (p.Pro1134Gln) n.3770C>A | dbSNP gnomAD v4 |
| 13 | g.32338125C= | CA2082820562 | BRCA2 | c.3770C= (p.Pro1257=) c.3401C= (p.Pro1134=) n.3770C= | |
| 13 | g.32338125C>G | CA387778265 | BRCA2 | c.3770C>G (p.Pro1257Arg) c.3401C>G (p.Pro1134Arg) n.3770C>G | dbSNP |
| 13 | g.32338125C>T | CA018762 | BRCA2 | c.3770C>T (p.Pro1257Leu) c.3401C>T (p.Pro1134Leu) n.3770C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338125_32338126delinsCA | CA2082820568 | BRCA2 | c.3770_3771delinsCA (p.Pro1257=) c.3401_3402delinsCA (p.Pro1134=) n.3770_3771delinsCA | |
| 13 | g.32338128_32338142del | CA2580087225 | BRCA2 | c.3773_3787del (p.Ile1258_Ser1262del) c.3404_3418del (p.Ile1135_Ser1139del) n.3773_3787del | ClinVar |
| 13 | g.32338126A= | CA2082820580 | BRCA2 | c.3771A= (p.Pro1257=) c.3402A= (p.Pro1134=) n.3771A= | |
| 13 | g.32338126A>C | CA483437908 | BRCA2 | c.3771A>C (p.Pro1257=) c.3402A>C (p.Pro1134=) n.3771A>C | dbSNP |
| 13 | g.32338126A>G | CA018767 | BRCA2 | c.3771A>G (p.Pro1257=) c.3402A>G (p.Pro1134=) n.3771A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338126A>T | CA16614145 | BRCA2 | c.3771A>T (p.Pro1257=) c.3402A>T (p.Pro1134=) n.3771A>T | ClinVar dbSNP |
| 13 | g.32338127del | CA018776 | BRCA2 | c.3772del (p.Ile1258Ter) c.3403del (p.Ile1135Ter) n.3772del | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32338126_32338128delinsAAT | CA2082820577 | BRCA2 | c.3771_3773delinsAAT (p.Pro1257=) c.3402_3404delinsAAT (p.Pro1134=) n.3771_3773delinsAAT | |
| 13 | g.32338127A= | CA2082820598 | BRCA2 | c.3772A= (p.Ile1258=) c.3403A= (p.Ile1135=) n.3772A= | |
| 13 | g.32338127A>C | CA387778271 | BRCA2 | c.3772A>C (p.Ile1258Leu) c.3403A>C (p.Ile1135Leu) n.3772A>C | |
| 13 | g.32338127A>G | CA018772 | BRCA2 | c.3772A>G (p.Ile1258Val) c.3403A>G (p.Ile1135Val) n.3772A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338127A>T | CA387778273 | BRCA2 | c.3772A>T (p.Ile1258Leu) c.3403A>T (p.Ile1135Leu) n.3772A>T | dbSNP |
| 13 | g.32338128_32338129del | CA018782 | BRCA2 | c.3773_3774del (p.Ile1258LysfsTer6) c.3404_3405del (p.Ile1135LysfsTer6) n.3773_3774del | ClinVar dbSNP |
| 13 | g.32338128T>A | CA6940724 | BRCA2 | c.3773T>A (p.Ile1258Lys) c.3404T>A (p.Ile1135Lys) n.3773T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338128T>C | CA387778281 | BRCA2 | c.3773T>C (p.Ile1258Thr) c.3404T>C (p.Ile1135Thr) n.3773T>C | |
| 13 | g.32338128T>G | CA387778277 | BRCA2 | c.3773T>G (p.Ile1258Arg) c.3404T>G (p.Ile1135Arg) n.3773T>G | ClinVar dbSNP |
| 13 | g.32338128T= | CA2082820623 | BRCA2 | c.3773T= (p.Ile1258=) c.3404T= (p.Ile1135=) n.3773T= | |
| 13 | g.32338128_32338130delinsTAA | CA2082820608 | BRCA2 | c.3773_3775delinsTAA (p.Ile1258=) c.3404_3406delinsTAA (p.Ile1135=) n.3773_3775delinsTAA | |
| 13 | g.32338129A= | CA2082820643 | BRCA2 | c.3774A= (p.Ile1258=) c.3405A= (p.Ile1135=) n.3774A= | |
| 13 | g.32338129A>C | CA483437910 | BRCA2 | c.3774A>C (p.Ile1258=) c.3405A>C (p.Ile1135=) n.3774A>C | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32338129A>G | CA387778283 | BRCA2 | c.3774A>G (p.Ile1258Met) c.3405A>G (p.Ile1135Met) n.3774A>G | |
| 13 | g.32338129A>T | CA483437912 | BRCA2 | c.3774A>T (p.Ile1258=) c.3405A>T (p.Ile1135=) n.3774A>T | dbSNP |
| 13 | g.32338129_32338130del | CA10586515 | BRCA2 | c.3774_3775del (p.Ile1258MetfsTer6) c.3405_3406del (p.Ile1135MetfsTer6) n.3774_3775del | ClinVar dbSNP |
| 13 | g.32338130A= | CA2082820658 | BRCA2 | c.3775A= (p.Ser1259=) c.3406A= (p.Ser1136=) n.3775A= | |
| 13 | g.32338130A>C | CA018788 | BRCA2 | c.3775A>C (p.Ser1259Arg) c.3406A>C (p.Ser1136Arg) n.3775A>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338130A>G | CA387778287 | BRCA2 | c.3775A>G (p.Ser1259Gly) c.3406A>G (p.Ser1136Gly) n.3775A>G | |
| 13 | g.32338130A>T | CA387778289 | BRCA2 | c.3775A>T (p.Ser1259Cys) c.3406A>T (p.Ser1136Cys) n.3775A>T | dbSNP |
| 13 | g.32338130_32338137dup | CA2573149335 | BRCA2 | c.3775_3782dup (p.Ser1262ValfsTer17) c.3406_3413dup (p.Ser1139ValfsTer17) n.3775_3782dup | ClinVar dbSNP |
| 13 | g.32338131G>A | CA6940725 | BRCA2 | c.3776G>A (p.Ser1259Asn) c.3407G>A (p.Ser1136Asn) n.3776G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338131G>C | CA387778292 | BRCA2 | c.3776G>C (p.Ser1259Thr) c.3407G>C (p.Ser1136Thr) n.3776G>C | |
| 13 | g.32338131G= | CA2082820668 | BRCA2 | c.3776G= (p.Ser1259=) c.3407G= (p.Ser1136=) n.3776G= | |
| 13 | g.32338131G>T | CA387778294 | BRCA2 | c.3776G>T (p.Ser1259Ile) c.3407G>T (p.Ser1136Ile) n.3776G>T | gnomAD v4 |
| 13 | g.32338131_32338133delinsGTT | CA2082820667 | BRCA2 | c.3776_3778delinsGTT (p.Ser1259=) c.3407_3409delinsGTT (p.Ser1136=) n.3776_3778delinsGTT | |
| 13 | g.32338132T>A | CA387778299 | BRCA2 | c.3777T>A (p.Ser1259Arg) c.3408T>A (p.Ser1136Arg) n.3777T>A | ClinVar dbSNP |
| 13 | g.32338132T>C | CA483437914 | BRCA2 | c.3777T>C (p.Ser1259=) c.3408T>C (p.Ser1136=) n.3777T>C | |
| 13 | g.32338132T>G | CA387778301 | BRCA2 | c.3777T>G (p.Ser1259Arg) c.3408T>G (p.Ser1136Arg) n.3777T>G | dbSNP |
| 13 | g.32338134dup | CA10589222 | BRCA2 | c.3779dup (p.Leu1260PhefsTer5) c.3410dup (p.Leu1137PhefsTer5) n.3779dup | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338134del | CA018789 | BRCA2 | c.3779del (p.Leu1260TyrfsTer16) c.3410del (p.Leu1137TyrfsTer16) n.3779del | ClinVar dbSNP |
| 13 | g.32338133_32338134del | CA018795 | BRCA2 | c.3778_3779del (p.Leu1260IlefsTer4) c.3409_3410del (p.Leu1137IlefsTer4) n.3778_3779del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338133T>A | CA387778309 | BRCA2 | c.3778T>A (p.Leu1260Ile) c.3409T>A (p.Leu1137Ile) n.3778T>A | dbSNP |
| 13 | g.32338133T>C | CA483437918 | BRCA2 | c.3778T>C (p.Leu1260=) c.3409T>C (p.Leu1137=) n.3778T>C | ClinVar dbSNP |
| 13 | g.32338133T>G | CA387778311 | BRCA2 | c.3778T>G (p.Leu1260Val) c.3409T>G (p.Leu1137Val) n.3778T>G | |
| 13 | g.32338134T>A | CA387778313 | BRCA2 | c.3779T>A (p.Leu1260Ter) c.3410T>A (p.Leu1137Ter) n.3779T>A | ClinVar dbSNP |
| 13 | g.32338134T>C | CA387778316 | BRCA2 | c.3779T>C (p.Leu1260Ser) c.3410T>C (p.Leu1137Ser) n.3779T>C | |
| 13 | g.32338134T>G | CA387778317 | BRCA2 | c.3779T>G (p.Leu1260Ter) c.3410T>G (p.Leu1137Ter) n.3779T>G | ClinVar dbSNP |
| 13 | g.32338134T= | CA2082820695 | BRCA2 | c.3779T= (p.Leu1260=) c.3410T= (p.Leu1137=) n.3779T= | |
| 13 | g.32338135A>C | CA387778320 | BRCA2 | c.3780A>C (p.Leu1260Phe) c.3411A>C (p.Leu1137Phe) n.3780A>C | |
| 13 | g.32338135A>G | CA483437920 | BRCA2 | c.3780A>G (p.Leu1260=) c.3411A>G (p.Leu1137=) n.3780A>G | |
| 13 | g.32338135A>T | CA387778322 | BRCA2 | c.3780A>T (p.Leu1260Phe) c.3411A>T (p.Leu1137Phe) n.3780A>T | dbSNP |
| 13 | g.32338136T>A | CA387778323 | BRCA2 | c.3781T>A (p.Ser1261Thr) c.3412T>A (p.Ser1138Thr) n.3781T>A | ClinVar dbSNP |
| 13 | g.32338136T>C | CA387778328 | BRCA2 | c.3781T>C (p.Ser1261Pro) c.3412T>C (p.Ser1138Pro) n.3781T>C | dbSNP |
| 13 | g.32338136T>G | CA387778325 | BRCA2 | c.3781T>G (p.Ser1261Ala) c.3412T>G (p.Ser1138Ala) n.3781T>G | |
| 13 | g.32338137C>A | CA387778332 | BRCA2 | c.3782C>A (p.Ser1261Tyr) c.3413C>A (p.Ser1138Tyr) n.3782C>A | dbSNP |
| 13 | g.32338137C= | CA2082820707 | BRCA2 | c.3782C= (p.Ser1261=) c.3413C= (p.Ser1138=) n.3782C= | |
| 13 | g.32338137C>G | CA018805 | BRCA2 | c.3782C>G (p.Ser1261Cys) c.3413C>G (p.Ser1138Cys) n.3782C>G | ClinVar dbSNP |
| 13 | g.32338137C>T | CA387778334 | BRCA2 | c.3782C>T (p.Ser1261Phe) c.3413C>T (p.Ser1138Phe) n.3782C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338138T>A | CA483437922 | BRCA2 | c.3783T>A (p.Ser1261=) c.3414T>A (p.Ser1138=) n.3783T>A | dbSNP |
| 13 | g.32338138T>C | CA483437923 | BRCA2 | c.3783T>C (p.Ser1261=) c.3414T>C (p.Ser1138=) n.3783T>C | dbSNP |
| 13 | g.32338138T>G | CA483437924 | BRCA2 | c.3783T>G (p.Ser1261=) c.3414T>G (p.Ser1138=) n.3783T>G | |
| 13 | g.32338143_32338169del | CA2622600840 | BRCA2 | c.3788_3814del (p.Ser1263_Ser1271del) c.3419_3445del (p.Ser1140_Ser1148del) n.3788_3814del | gnomAD v4 |
| 13 | g.32338139T>A | CA387778338 | BRCA2 | c.3784T>A (p.Ser1262Thr) c.3415T>A (p.Ser1139Thr) n.3784T>A | dbSNP |
| 13 | g.32338139T>C | CA387778340 | BRCA2 | c.3784T>C (p.Ser1262Pro) c.3415T>C (p.Ser1139Pro) n.3784T>C | dbSNP |
| 13 | g.32338139T>G | CA387778342 | BRCA2 | c.3784T>G (p.Ser1262Ala) c.3415T>G (p.Ser1139Ala) n.3784T>G | ClinVar dbSNP |
| 13 | g.32338139T= | CA2082820714 | BRCA2 | c.3784T= (p.Ser1262=) c.3415T= (p.Ser1139=) n.3784T= | |
| 13 | g.32338140C>A | CA387778343 | BRCA2 | c.3785C>A (p.Ser1262Ter) c.3416C>A (p.Ser1139Ter) n.3785C>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338140C= | CA2082820724 | BRCA2 | c.3785C= (p.Ser1262=) c.3416C= (p.Ser1139=) n.3785C= | |
| 13 | g.32338140C>G | CA018810 | BRCA2 | c.3785C>G (p.Ser1262Ter) c.3416C>G (p.Ser1139Ter) n.3785C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338140C>T | CA387778346 | BRCA2 | c.3785C>T (p.Ser1262Leu) c.3416C>T (p.Ser1139Leu) n.3785C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32338141A= | CA2082820730 | BRCA2 | c.3786A= (p.Ser1262=) c.3417A= (p.Ser1139=) n.3786A= | |
| 13 | g.32338141A>C | CA483437925 | BRCA2 | c.3786A>C (p.Ser1262=) c.3417A>C (p.Ser1139=) n.3786A>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338141A>G | CA483437927 | BRCA2 | c.3786A>G (p.Ser1262=) c.3417A>G (p.Ser1139=) n.3786A>G | ClinVar dbSNP |
| 13 | g.32338141A>T | CA16614296 | BRCA2 | c.3786A>T (p.Ser1262=) c.3417A>T (p.Ser1139=) n.3786A>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338142A>C | CA387778348 | BRCA2 | c.3787A>C (p.Ser1263Arg) c.3418A>C (p.Ser1140Arg) n.3787A>C | |
| 13 | g.32338142A>G | CA387778350 | BRCA2 | c.3787A>G (p.Ser1263Gly) c.3418A>G (p.Ser1140Gly) n.3787A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338142A>T | CA387778352 | BRCA2 | c.3787A>T (p.Ser1263Cys) c.3418A>T (p.Ser1140Cys) n.3787A>T | dbSNP |