Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32337993_32338007delinsAAGTGGGGTTTAGGG | CA2082819086 | BRCA2 | c.3638_3652delinsAAGTGGGGTTTAGGG (p.Glu1213=) c.3269_3283delinsAAGTGGGGTTTAGGG (p.Glu1090=) n.3638_3652delinsAAGTGGGGTTTAGGG | |
13 | g.32337994_32338007del | CA10586512 | BRCA2 | c.3639_3652del (p.Val1214LeufsTer14) c.3270_3283del (p.Val1091LeufsTer14) n.3639_3652del | ClinVar dbSNP |
13 | g.32337996_32338005delinsTGGGGTTTAG | CA2082819135 | BRCA2 | c.3641_3650delinsTGGGGTTTAG (p.Val1214=) c.3272_3281delinsTGGGGTTTAG (p.Val1091=) n.3641_3650delinsTGGGGTTTAG | |
13 | g.32338000_32338008del | CA919242481 | BRCA2 | c.3645_3653del (p.Phe1216_Gly1218del) c.3276_3284del (p.Phe1093_Gly1095del) n.3645_3653del | dbSNP |
13 | g.32338001_32338004dup | CA2695218190 | BRCA2 | c.3646_3649dup (p.Arg1217IlefsTer2) c.3277_3280dup (p.Arg1094IlefsTer2) n.3646_3649dup | |
13 | g.32338003_32338004delinsTA | CA2082819196 | BRCA2 | c.3648_3649delinsTA (p.Phe1216=) c.3279_3280delinsTA (p.Phe1093=) n.3648_3649delinsTA | |
13 | g.32338004del | CA348063 | BRCA2 | c.3649del (p.Arg1217GlyfsTer11) c.3280del (p.Arg1094GlyfsTer11) n.3649del | ClinVar dbSNP |
13 | g.32338004A= | CA2082819206 | BRCA2 | c.3649A= (p.Arg1217=) c.3280A= (p.Arg1094=) n.3649A= | |
13 | g.32338004A>C | CA483437678 | BRCA2 | c.3649A>C (p.Arg1217=) c.3280A>C (p.Arg1094=) n.3649A>C | ClinVar |
13 | g.32338004A>G | CA387777950 | BRCA2 | c.3649A>G (p.Arg1217Gly) c.3280A>G (p.Arg1094Gly) n.3649A>G | gnomAD v4 |
13 | g.32338004A>T | CA387777951 | BRCA2 | c.3649A>T (p.Arg1217Trp) c.3280A>T (p.Arg1094Trp) n.3649A>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338005G>A | CA387777952 | BRCA2 | c.3650G>A (p.Arg1217Lys) c.3281G>A (p.Arg1094Lys) n.3650G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338005G>C | CA387777953 | BRCA2 | c.3650G>C (p.Arg1217Thr) c.3281G>C (p.Arg1094Thr) n.3650G>C | ClinVar dbSNP |
13 | g.32338005G= | CA2082819211 | BRCA2 | c.3650G= (p.Arg1217=) c.3281G= (p.Arg1094=) n.3650G= | |
13 | g.32338005G>T | CA387777954 | BRCA2 | c.3650G>T (p.Arg1217Met) c.3281G>T (p.Arg1094Met) n.3650G>T | dbSNP |
13 | g.32338008dup | CA2695199699 | BRCA2 | c.3653dup (p.Phe1219LeufsTer14) c.3284dup (p.Phe1096LeufsTer14) n.3653dup | ClinVar |
13 | g.32338006G>A | CA483437685 | BRCA2 | c.3651G>A (p.Arg1217=) c.3282G>A (p.Arg1094=) n.3651G>A | gnomAD v4 |
13 | g.32338006G>C | CA387777955 | BRCA2 | c.3651G>C (p.Arg1217Ser) c.3282G>C (p.Arg1094Ser) n.3651G>C | |
13 | g.32338006G>T | CA387777956 | BRCA2 | c.3651G>T (p.Arg1217Ser) c.3282G>T (p.Arg1094Ser) n.3651G>T | |
13 | g.32338007G>A | CA387777957 | BRCA2 | c.3652G>A (p.Gly1218Ser) c.3283G>A (p.Gly1095Ser) n.3652G>A | ClinVar dbSNP |
13 | g.32338007G>C | CA387777958 | BRCA2 | c.3652G>C (p.Gly1218Arg) c.3283G>C (p.Gly1095Arg) n.3652G>C | dbSNP |
13 | g.32338007G>T | CA387777959 | BRCA2 | c.3652G>T (p.Gly1218Cys) c.3283G>T (p.Gly1095Cys) n.3652G>T | dbSNP |
13 | g.32338008G>A | CA387777960 | BRCA2 | c.3653G>A (p.Gly1218Asp) c.3284G>A (p.Gly1095Asp) n.3653G>A | dbSNP |
13 | g.32338008G>C | CA10584443 | BRCA2 | c.3653G>C (p.Gly1218Ala) c.3284G>C (p.Gly1095Ala) n.3653G>C | ClinVar dbSNP |
13 | g.32338008G= | CA2082819219 | BRCA2 | c.3653G= (p.Gly1218=) c.3284G= (p.Gly1095=) n.3653G= | |
13 | g.32338008G>T | CA387777961 | BRCA2 | c.3653G>T (p.Gly1218Val) c.3284G>T (p.Gly1095Val) n.3653G>T | dbSNP |
13 | g.32338009C>A | CA483437689 | BRCA2 | c.3654C>A (p.Gly1218=) c.3285C>A (p.Gly1095=) n.3654C>A | |
13 | g.32338009C>G | CA483437687 | BRCA2 | c.3654C>G (p.Gly1218=) c.3285C>G (p.Gly1095=) n.3654C>G | gnomAD v4 |
13 | g.32338009C>T | CA483437688 | BRCA2 | c.3654C>T (p.Gly1218=) c.3285C>T (p.Gly1095=) n.3654C>T | gnomAD v4 |
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 |