| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32338010T>A | CA387777962 | BRCA2 | c.3655T>A (p.Phe1219Ile) c.3286T>A (p.Phe1096Ile) n.3655T>A | |
| 13 | g.32338010T>C | CA018474 | BRCA2 | c.3655T>C (p.Phe1219Leu) c.3286T>C (p.Phe1096Leu) n.3655T>C | ClinVar dbSNP |
| 13 | g.32338010T>G | CA6940713 | BRCA2 | c.3655T>G (p.Phe1219Val) c.3286T>G (p.Phe1096Val) n.3655T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338010T= | CA2082819230 | BRCA2 | c.3655T= (p.Phe1219=) c.3286T= (p.Phe1096=) n.3655T= | |
| 13 | g.32338011T>A | CA387777963 | BRCA2 | c.3656T>A (p.Phe1219Tyr) c.3287T>A (p.Phe1096Tyr) n.3656T>A | dbSNP |
| 13 | g.32338011T>C | CA387777964 | BRCA2 | c.3656T>C (p.Phe1219Ser) c.3287T>C (p.Phe1096Ser) n.3656T>C | ClinVar dbSNP |
| 13 | g.32338011T>G | CA387777965 | BRCA2 | c.3656T>G (p.Phe1219Cys) c.3287T>G (p.Phe1096Cys) n.3656T>G | |
| 13 | g.32338011T= | CA2082819238 | BRCA2 | c.3656T= (p.Phe1219=) c.3287T= (p.Phe1096=) n.3656T= | |
| 13 | g.32338012T>A | CA387777966 | BRCA2 | c.3657T>A (p.Phe1219Leu) c.3288T>A (p.Phe1096Leu) n.3657T>A | dbSNP |
| 13 | g.32338012T>C | CA10579584 | BRCA2 | c.3657T>C (p.Phe1219=) c.3288T>C (p.Phe1096=) n.3657T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32338012T>G | CA387777967 | BRCA2 | c.3657T>G (p.Phe1219Leu) c.3288T>G (p.Phe1096Leu) n.3657T>G | dbSNP |
| 13 | g.32338012T= | CA2082819243 | BRCA2 | c.3657T= (p.Phe1219=) c.3288T= (p.Phe1096=) n.3657T= | |
| 13 | g.32338014_32338016del | CA2580087218 | BRCA2 | c.3659_3661del (p.Tyr1220del) c.3290_3292del (p.Tyr1097del) n.3659_3661del | ClinVar |
| 13 | g.32338013T>A | CA387777968 | BRCA2 | c.3658T>A (p.Tyr1220Asn) c.3289T>A (p.Tyr1097Asn) n.3658T>A | dbSNP |
| 13 | g.32338013T>C | CA018482 | BRCA2 | c.3658T>C (p.Tyr1220His) c.3289T>C (p.Tyr1097His) n.3658T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338013T>G | CA387777969 | BRCA2 | c.3658T>G (p.Tyr1220Asp) c.3289T>G (p.Tyr1097Asp) n.3658T>G | dbSNP |
| 13 | g.32338013T= | CA2082819257 | BRCA2 | c.3658T= (p.Tyr1220=) c.3289T= (p.Tyr1097=) n.3658T= | |
| 13 | g.32338013_32338017delinsTATTC | CA2082819269 | BRCA2 | c.3658_3662delinsTATTC (p.Tyr1220=) c.3289_3293delinsTATTC (p.Tyr1097=) n.3658_3662delinsTATTC | |
| 13 | g.32338014A= | CA2082819296 | BRCA2 | c.3659A= (p.Tyr1220=) c.3290A= (p.Tyr1097=) n.3659A= | |
| 13 | g.32338014A>C | CA387777970 | BRCA2 | c.3659A>C (p.Tyr1220Ser) c.3290A>C (p.Tyr1097Ser) n.3659A>C | dbSNP |
| 13 | g.32338014A>G | CA387777971 | BRCA2 | c.3659A>G (p.Tyr1220Cys) c.3290A>G (p.Tyr1097Cys) n.3659A>G | ClinVar dbSNP |
| 13 | g.32338014A>T | CA387777972 | BRCA2 | c.3659A>T (p.Tyr1220Phe) c.3290A>T (p.Tyr1097Phe) n.3659A>T | dbSNP |
| 13 | g.32338014dup | CA2695218191 | BRCA2 | c.3659dup (p.Tyr1220Ter) c.3290dup (p.Tyr1097Ter) n.3659dup | |
| 13 | g.32338014_32338017delinsG | CA658656421 | BRCA2 | c.3659_3662delinsG (p.Tyr1220_Ser1221delinsCys) c.3290_3293delinsG (p.Tyr1097_Ser1098delinsCys) n.3659_3662delinsG | ClinVar dbSNP |
| 13 | g.32338015T>A | CA387777973 | BRCA2 | c.3660T>A (p.Tyr1220Ter) c.3291T>A (p.Tyr1097Ter) n.3660T>A | dbSNP |
| 13 | g.32338015T>C | CA483437692 | BRCA2 | c.3660T>C (p.Tyr1220=) c.3291T>C (p.Tyr1097=) n.3660T>C | dbSNP |
| 13 | g.32338015T>G | CA387777974 | BRCA2 | c.3660T>G (p.Tyr1220Ter) c.3291T>G (p.Tyr1097Ter) n.3660T>G | |
| 13 | g.32338016T>A | CA387777975 | BRCA2 | c.3661T>A (p.Ser1221Thr) c.3292T>A (p.Ser1098Thr) n.3661T>A | dbSNP |
| 13 | g.32338016T>C | CA018488 | BRCA2 | c.3661T>C (p.Ser1221Pro) c.3292T>C (p.Ser1098Pro) n.3661T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338016T>G | CA387777976 | BRCA2 | c.3661T>G (p.Ser1221Ala) c.3292T>G (p.Ser1098Ala) n.3661T>G | |
| 13 | g.32338016T= | CA2082819303 | BRCA2 | c.3661T= (p.Ser1221=) c.3292T= (p.Ser1098=) n.3661T= | |
| 13 | g.32338017C>A | CA018495 | BRCA2 | c.3662C>A (p.Ser1221Tyr) c.3293C>A (p.Ser1098Tyr) n.3662C>A | ClinVar dbSNP |
| 13 | g.32338017C= | CA2082819311 | BRCA2 | c.3662C= (p.Ser1221=) c.3293C= (p.Ser1098=) n.3662C= | |
| 13 | g.32338017C>G | CA387777977 | BRCA2 | c.3662C>G (p.Ser1221Cys) c.3293C>G (p.Ser1098Cys) n.3662C>G | ClinVar dbSNP |
| 13 | g.32338017C>T | CA387777978 | BRCA2 | c.3662C>T (p.Ser1221Phe) c.3293C>T (p.Ser1098Phe) n.3662C>T | dbSNP gnomAD v4 |
| 13 | g.32338018T>A | CA483437694 | BRCA2 | c.3663T>A (p.Ser1221=) c.3294T>A (p.Ser1098=) n.3663T>A | dbSNP |
| 13 | g.32338018T>C | CA483437695 | BRCA2 | c.3663T>C (p.Ser1221=) c.3294T>C (p.Ser1098=) n.3663T>C | ClinVar dbSNP |
| 13 | g.32338018T>G | CA483437696 | BRCA2 | c.3663T>G (p.Ser1221=) c.3294T>G (p.Ser1098=) n.3663T>G | |
| 13 | g.32338018T= | CA2082819319 | BRCA2 | c.3663T= (p.Ser1221=) c.3294T= (p.Ser1098=) n.3663T= | |
| 13 | g.32338019G>A | CA387777979 | BRCA2 | c.3664G>A (p.Ala1222Thr) c.3295G>A (p.Ala1099Thr) n.3664G>A | |
| 13 | g.32338019G>C | CA387777980 | BRCA2 | c.3664G>C (p.Ala1222Pro) c.3295G>C (p.Ala1099Pro) n.3664G>C | ClinVar |
| 13 | g.32338019G= | CA2082819326 | BRCA2 | c.3664G= (p.Ala1222=) c.3295G= (p.Ala1099=) n.3664G= | |
| 13 | g.32338019G>T | CA387777981 | BRCA2 | c.3664G>T (p.Ala1222Ser) c.3295G>T (p.Ala1099Ser) n.3664G>T | ClinVar dbSNP |
| 13 | g.32338020C>A | CA387777982 | BRCA2 | c.3665C>A (p.Ala1222Asp) c.3296C>A (p.Ala1099Asp) n.3665C>A | dbSNP |
| 13 | g.32338020C= | CA2082819334 | BRCA2 | c.3665C= (p.Ala1222=) c.3296C= (p.Ala1099=) n.3665C= | |
| 13 | g.32338020C>G | CA6940714 | BRCA2 | c.3665C>G (p.Ala1222Gly) c.3296C>G (p.Ala1099Gly) n.3665C>G | ClinVar dbSNP ExAC |
| 13 | g.32338020C>T | CA387777983 | BRCA2 | c.3665C>T (p.Ala1222Val) c.3296C>T (p.Ala1099Val) n.3665C>T | ClinVar dbSNP |
| 13 | g.32338021_32338022dup | CA2580610698 | BRCA2 | c.3666_3667dup (p.His1223LeufsTer6) c.3297_3298dup (p.His1100LeufsTer6) n.3666_3667dup | |
| 13 | g.32338021T>A | CA483437697 | BRCA2 | c.3666T>A (p.Ala1222=) c.3297T>A (p.Ala1099=) n.3666T>A | dbSNP |
| 13 | g.32338021T>C | CA483437698 | BRCA2 | c.3666T>C (p.Ala1222=) c.3297T>C (p.Ala1099=) n.3666T>C | ClinVar |
| 13 | g.32338021T>G | CA6940715 | BRCA2 | c.3666T>G (p.Ala1222=) c.3297T>G (p.Ala1099=) n.3666T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338021T= | CA2082819362 | BRCA2 | c.3666T= (p.Ala1222=) c.3297T= (p.Ala1099=) n.3666T= | |
| 13 | g.32338022C>A | CA387777985 | BRCA2 | c.3667C>A (p.His1223Asn) c.3298C>A (p.His1100Asn) n.3667C>A | dbSNP COSMIC COSMIC |
| 13 | g.32338022C= | CA2082819371 | BRCA2 | c.3667C= (p.His1223=) c.3298C= (p.His1100=) n.3667C= | |
| 13 | g.32338022C>G | CA387777984 | BRCA2 | c.3667C>G (p.His1223Asp) c.3298C>G (p.His1100Asp) n.3667C>G | dbSNP |
| 13 | g.32338022C>T | CA018502 | BRCA2 | c.3667C>T (p.His1223Tyr) c.3298C>T (p.His1100Tyr) n.3667C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338023A= | CA2082819382 | BRCA2 | c.3668A= (p.His1223=) c.3299A= (p.His1100=) n.3668A= | |
| 13 | g.32338023A>C | CA387777986 | BRCA2 | c.3668A>C (p.His1223Pro) c.3299A>C (p.His1100Pro) n.3668A>C | dbSNP |
| 13 | g.32338023A>G | CA018509 | BRCA2 | c.3668A>G (p.His1223Arg) c.3299A>G (p.His1100Arg) n.3668A>G | ClinVar dbSNP |
| 13 | g.32338023A>T | CA387777987 | BRCA2 | c.3668A>T (p.His1223Leu) c.3299A>T (p.His1100Leu) n.3668A>T | ClinVar dbSNP |
| 13 | g.32338024T>A | CA387777988 | BRCA2 | c.3669T>A (p.His1223Gln) c.3300T>A (p.His1100Gln) n.3669T>A | |
| 13 | g.32338024T>C | CA10583092 | BRCA2 | c.3669T>C (p.His1223=) c.3300T>C (p.His1100=) n.3669T>C | ClinVar dbSNP |
| 13 | g.32338024T>G | CA387777989 | BRCA2 | c.3669T>G (p.His1223Gln) c.3300T>G (p.His1100Gln) n.3669T>G | |
| 13 | g.32338024T= | CA2082819389 | BRCA2 | c.3669T= (p.His1223=) c.3300T= (p.His1100=) n.3669T= | |
| 13 | g.32338025G>A | CA387777990 | BRCA2 | c.3670G>A (p.Gly1224Ser) c.3301G>A (p.Gly1101Ser) n.3670G>A | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32338025G>C | CA387777991 | BRCA2 | c.3670G>C (p.Gly1224Arg) c.3301G>C (p.Gly1101Arg) n.3670G>C | dbSNP |
| 13 | g.32338025G>T | CA387777992 | BRCA2 | c.3670G>T (p.Gly1224Cys) c.3301G>T (p.Gly1101Cys) n.3670G>T | dbSNP gnomAD v4 |
| 13 | g.32338026G>A | CA387777993 | BRCA2 | c.3671G>A (p.Gly1224Asp) c.3302G>A (p.Gly1101Asp) n.3671G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338026G>C | CA387777994 | BRCA2 | c.3671G>C (p.Gly1224Ala) c.3302G>C (p.Gly1101Ala) n.3671G>C | dbSNP |
| 13 | g.32338026G= | CA2082819405 | BRCA2 | c.3671G= (p.Gly1224=) c.3302G= (p.Gly1101=) n.3671G= | |
| 13 | g.32338026G>T | CA018515 | BRCA2 | c.3671G>T (p.Gly1224Val) c.3302G>T (p.Gly1101Val) n.3671G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32338027C>A | CA483437702 | BRCA2 | c.3672C>A (p.Gly1224=) c.3303C>A (p.Gly1101=) n.3672C>A | dbSNP |
| 13 | g.32338027C= | CA2082819415 | BRCA2 | c.3672C= (p.Gly1224=) c.3303C= (p.Gly1101=) n.3672C= | |
| 13 | g.32338027C>G | CA483437703 | BRCA2 | c.3672C>G (p.Gly1224=) c.3303C>G (p.Gly1101=) n.3672C>G | ClinVar dbSNP |
| 13 | g.32338027C>T | CA018521 | BRCA2 | c.3672C>T (p.Gly1224=) c.3303C>T (p.Gly1101=) n.3672C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338028A>C | CA387777996 | BRCA2 | c.3673A>C (p.Thr1225Pro) c.3304A>C (p.Thr1102Pro) n.3673A>C | ClinVar dbSNP |
| 13 | g.32338028A>G | CA387777995 | BRCA2 | c.3673A>G (p.Thr1225Ala) c.3304A>G (p.Thr1102Ala) n.3673A>G | |
| 13 | g.32338028A>T | CA387777997 | BRCA2 | c.3673A>T (p.Thr1225Ser) c.3304A>T (p.Thr1102Ser) n.3673A>T | dbSNP |
| 13 | g.32338029C>A | CA387777998 | BRCA2 | c.3674C>A (p.Thr1225Lys) c.3305C>A (p.Thr1102Lys) n.3674C>A | ClinVar dbSNP |
| 13 | g.32338029C= | CA2082819444 | BRCA2 | c.3674C= (p.Thr1225=) c.3305C= (p.Thr1102=) n.3674C= | |
| 13 | g.32338029C>G | CA387777999 | BRCA2 | c.3674C>G (p.Thr1225Arg) c.3305C>G (p.Thr1102Arg) n.3674C>G | ClinVar |
| 13 | g.32338029C>T | CA387778000 | BRCA2 | c.3674C>T (p.Thr1225Ile) c.3305C>T (p.Thr1102Ile) n.3674C>T | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32338030A= | CA2082819457 | BRCA2 | c.3675A= (p.Thr1225=) c.3306A= (p.Thr1102=) n.3675A= | |
| 13 | g.32338030A>C | CA483437708 | BRCA2 | c.3675A>C (p.Thr1225=) c.3306A>C (p.Thr1102=) n.3675A>C | ClinVar dbSNP |
| 13 | g.32338030A>G | CA018527 | BRCA2 | c.3675A>G (p.Thr1225=) c.3306A>G (p.Thr1102=) n.3675A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338030A>T | CA483437707 | BRCA2 | c.3675A>T (p.Thr1225=) c.3306A>T (p.Thr1102=) n.3675A>T | dbSNP |
| 13 | g.32338033dup | CA658683867 | BRCA2 | c.3678dup (p.Leu1227ThrfsTer6) c.3309dup (p.Leu1104ThrfsTer6) n.3678dup | ClinVar dbSNP |
| 13 | g.32338031A= | CA2082819489 | BRCA2 | c.3676A= (p.Lys1226=) c.3307A= (p.Lys1103=) n.3676A= | |
| 13 | g.32338031A>C | CA018533 | BRCA2 | c.3676A>C (p.Lys1226Gln) c.3307A>C (p.Lys1103Gln) n.3676A>C | ClinVar dbSNP |
| 13 | g.32338031A>G | CA387778001 | BRCA2 | c.3676A>G (p.Lys1226Glu) c.3307A>G (p.Lys1103Glu) n.3676A>G | dbSNP |
| 13 | g.32338031A>T | CA387778002 | BRCA2 | c.3676A>T (p.Lys1226Ter) c.3307A>T (p.Lys1103Ter) n.3676A>T | dbSNP |
| 13 | g.32338031_32338036delinsAAACTG | CA2082819486 | BRCA2 | c.3676_3681delinsAAACTG (p.Lys1226=) c.3307_3312delinsAAACTG (p.Lys1103=) n.3676_3681delinsAAACTG | |
| 13 | g.32338032A= | CA2082819504 | BRCA2 | c.3677A= (p.Lys1226=) c.3308A= (p.Lys1103=) n.3677A= | |
| 13 | g.32338032A>C | CA387778003 | BRCA2 | c.3677A>C (p.Lys1226Thr) c.3308A>C (p.Lys1103Thr) n.3677A>C | ClinVar dbSNP |
| 13 | g.32338032A>G | CA387778004 | BRCA2 | c.3677A>G (p.Lys1226Arg) c.3308A>G (p.Lys1103Arg) n.3677A>G | |
| 13 | g.32338032A>T | CA018539 | BRCA2 | c.3677A>T (p.Lys1226Ile) c.3308A>T (p.Lys1103Ile) n.3677A>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338034_32338038del | CA658683868 | BRCA2 | c.3679_3683del (p.Leu1227CysfsTer4) c.3310_3314del (p.Leu1104CysfsTer4) n.3679_3683del | ClinVar dbSNP |
| 13 | g.32338033A>C | CA387778005 | BRCA2 | c.3678A>C (p.Lys1226Asn) c.3309A>C (p.Lys1103Asn) n.3678A>C | |
| 13 | g.32338033A>G | CA483437709 | BRCA2 | c.3678A>G (p.Lys1226=) c.3309A>G (p.Lys1103=) n.3678A>G | ClinVar dbSNP |
| 13 | g.32338033A>T | CA387778006 | BRCA2 | c.3678A>T (p.Lys1226Asn) c.3309A>T (p.Lys1103Asn) n.3678A>T | dbSNP |
| 13 | g.32338034C>A | CA387778007 | BRCA2 | c.3679C>A (p.Leu1227Met) c.3310C>A (p.Leu1104Met) n.3679C>A | dbSNP |
| 13 | g.32338034C= | CA2082819518 | BRCA2 | c.3679C= (p.Leu1227=) c.3310C= (p.Leu1104=) n.3679C= | |
| 13 | g.32338034C>G | CA387778008 | BRCA2 | c.3679C>G (p.Leu1227Val) c.3310C>G (p.Leu1104Val) n.3679C>G | ClinVar dbSNP |
| 13 | g.32338034C>T | CA483437711 | BRCA2 | c.3679C>T (p.Leu1227=) c.3310C>T (p.Leu1104=) n.3679C>T | |
| 13 | g.32338034_32338036delinsCTG | CA2082819513 | BRCA2 | c.3679_3681delinsCTG (p.Leu1227=) c.3310_3312delinsCTG (p.Leu1104=) n.3679_3681delinsCTG | |
| 13 | g.32338034_32338038delinsCTGAA | CA2082819515 | BRCA2 | c.3679_3683delinsCTGAA (p.Leu1227=) c.3310_3314delinsCTGAA (p.Leu1104=) n.3679_3683delinsCTGAA | |
| 13 | g.32338035T>A | CA387778009 | BRCA2 | c.3680T>A (p.Leu1227Gln) c.3311T>A (p.Leu1104Gln) n.3680T>A | dbSNP |
| 13 | g.32338035T>C | CA387778010 | BRCA2 | c.3680T>C (p.Leu1227Pro) c.3311T>C (p.Leu1104Pro) n.3680T>C | ClinVar dbSNP |
| 13 | g.32338035T>G | CA387778011 | BRCA2 | c.3680T>G (p.Leu1227Arg) c.3311T>G (p.Leu1104Arg) n.3680T>G | |
| 13 | g.32338035T= | CA2082819534 | BRCA2 | c.3680T= (p.Leu1227=) c.3311T= (p.Leu1104=) n.3680T= | |
| 13 | g.32338035_32338036del | CA018546 | BRCA2 | c.3680_3681del (p.Leu1227GlnfsTer5) c.3311_3312del (p.Leu1104GlnfsTer5) n.3680_3681del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338035_32338036delinsTG | CA2082819537 | BRCA2 | c.3680_3681delinsTG (p.Leu1227=) c.3311_3312delinsTG (p.Leu1104=) n.3680_3681delinsTG | |
| 13 | g.32338037_32338040del | CA018554 | BRCA2 | c.3682_3685del (p.Asn1228PhefsTer10) c.3313_3316del (p.Asn1105PhefsTer10) n.3682_3685del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338036del | CA10586513 | BRCA2 | c.3681del (p.Asn1228MetfsTer11) c.3312del (p.Asn1105MetfsTer11) n.3681del | ClinVar dbSNP |
| 13 | g.32338036G>A | CA6940716 | BRCA2 | c.3681G>A (p.Leu1227=) c.3312G>A (p.Leu1104=) n.3681G>A | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.32338036G>C | CA10579585 | BRCA2 | c.3681G>C (p.Leu1227=) c.3312G>C (p.Leu1104=) n.3681G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338036G= | CA2082819552 | BRCA2 | c.3681G= (p.Leu1227=) c.3312G= (p.Leu1104=) n.3681G= | |
| 13 | g.32338036G>T | CA483437712 | BRCA2 | c.3681G>T (p.Leu1227=) c.3312G>T (p.Leu1104=) n.3681G>T | |
| 13 | g.32338037A= | CA2082819569 | BRCA2 | c.3682A= (p.Asn1228=) c.3313A= (p.Asn1105=) n.3682A= | |
| 13 | g.32338037A>C | CA387778012 | BRCA2 | c.3682A>C (p.Asn1228His) c.3313A>C (p.Asn1105His) n.3682A>C | |
| 13 | g.32338037A>G | CA018564 | BRCA2 | c.3682A>G (p.Asn1228Asp) c.3313A>G (p.Asn1105Asp) n.3682A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338037A>T | CA387778013 | BRCA2 | c.3682A>T (p.Asn1228Tyr) c.3313A>T (p.Asn1105Tyr) n.3682A>T | dbSNP |
| 13 | g.32338037_32338038delinsAA | CA2082819588 | BRCA2 | c.3682_3683delinsAA (p.Asn1228=) c.3313_3314delinsAA (p.Asn1105=) n.3682_3683delinsAA | |
| 13 | g.32338038dup | CA609453784 | BRCA2 | c.3683dup (p.Asn1228LysfsTer5) c.3314dup (p.Asn1105LysfsTer5) n.3683dup | gnomAD v2 |
| 13 | g.32338038del | CA2580087219 | BRCA2 | c.3683del (p.Asn1228MetfsTer11) c.3314del (p.Asn1105MetfsTer11) n.3683del | ClinVar |
| 13 | g.32338038A= | CA2082819601 | BRCA2 | c.3683A= (p.Asn1228=) c.3314A= (p.Asn1105=) n.3683A= | |
| 13 | g.32338038A>C | CA387778015 | BRCA2 | c.3683A>C (p.Asn1228Thr) c.3314A>C (p.Asn1105Thr) n.3683A>C | dbSNP |
| 13 | g.32338038A>G | CA018570 | BRCA2 | c.3683A>G (p.Asn1228Ser) c.3314A>G (p.Asn1105Ser) n.3683A>G | ClinVar dbSNP |
| 13 | g.32338038A>T | CA387778014 | BRCA2 | c.3683A>T (p.Asn1228Ile) c.3314A>T (p.Asn1105Ile) n.3683A>T | ClinVar dbSNP |
| 13 | g.32338038delinsGG | CA645372958 | BRCA2 | c.3683delinsGG (p.Asn1228ArgfsTer5) c.3314delinsGG (p.Asn1105ArgfsTer5) n.3683delinsGG | ClinVar dbSNP |
| 13 | g.32338038_32338040delinsATG | CA2082819596 | BRCA2 | c.3683_3685delinsATG (p.Asn1228=) c.3314_3316delinsATG (p.Asn1105=) n.3683_3685delinsATG | |
| 13 | g.32338038_32338039insG | CA2499222142 | BRCA2 | c.3683_3684insG (p.Asn1228LysfsTer5) c.3314_3315insG (p.Asn1105LysfsTer5) n.3683_3684insG | ClinVar dbSNP |
| 13 | g.32338039T>A | CA387778016 | BRCA2 | c.3684T>A (p.Asn1228Lys) c.3315T>A (p.Asn1105Lys) n.3684T>A | ClinVar dbSNP |
| 13 | g.32338039T>C | CA483437714 | BRCA2 | c.3684T>C (p.Asn1228=) c.3315T>C (p.Asn1105=) n.3684T>C | ClinVar gnomAD v4 |
| 13 | g.32338039T>G | CA387778017 | BRCA2 | c.3684T>G (p.Asn1228Lys) c.3315T>G (p.Asn1105Lys) n.3684T>G | |
| 13 | g.32338039delinsAA | CA2825002130 | BRCA2 | c.3684delinsAA (p.Asn1228LysfsTer5) c.3315delinsAA (p.Asn1105LysfsTer5) n.3684delinsAA | ClinVar |
| 13 | g.32338039_32338040delinsTG | CA2082819619 | BRCA2 | c.3684_3685delinsTG (p.Asn1228=) c.3315_3316delinsTG (p.Asn1105=) n.3684_3685delinsTG | |
| 13 | g.32338040_32338041del | CA10589216 | BRCA2 | c.3685_3686del (p.Val1229PhefsTer3) c.3316_3317del (p.Val1106PhefsTer3) n.3685_3686del | ClinVar dbSNP |
| 13 | g.32338040del | CA018575 | BRCA2 | c.3685del (p.Val1229PhefsTer10) c.3316del (p.Val1106PhefsTer10) n.3685del | ClinVar dbSNP |
| 13 | g.32338040G>A | CA018583 | BRCA2 | c.3685G>A (p.Val1229Ile) c.3316G>A (p.Val1106Ile) n.3685G>A | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32338040G>C | CA387778018 | BRCA2 | c.3685G>C (p.Val1229Leu) c.3316G>C (p.Val1106Leu) n.3685G>C | |
| 13 | g.32338040G= | CA2082819630 | BRCA2 | c.3685G= (p.Val1229=) c.3316G= (p.Val1106=) n.3685G= | |
| 13 | g.32338040G>T | CA387778019 | BRCA2 | c.3685G>T (p.Val1229Phe) c.3316G>T (p.Val1106Phe) n.3685G>T | |
| 13 | g.32338040_32338041delinsGT | CA2082819635 | BRCA2 | c.3685_3686delinsGT (p.Val1229=) c.3316_3317delinsGT (p.Val1106=) n.3685_3686delinsGT | |
| 13 | g.32338041T>A | CA387778020 | BRCA2 | c.3686T>A (p.Val1229Asp) c.3317T>A (p.Val1106Asp) n.3686T>A | dbSNP |
| 13 | g.32338041T>C | CA387778022 | BRCA2 | c.3686T>C (p.Val1229Ala) c.3317T>C (p.Val1106Ala) n.3686T>C | ClinVar dbSNP |
| 13 | g.32338041T>G | CA387778021 | BRCA2 | c.3686T>G (p.Val1229Gly) c.3317T>G (p.Val1106Gly) n.3686T>G | |
| 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 |