| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32338197_32338391del | CA2580618074 | BRCA2 | c.3842_4036del (p.Lys1281_Asp1345del) c.3473_3667del (p.Lys1158_Asp1222del) n.3842_4036del | |
| 13 | g.32338219_32338221del | CA019013 | BRCA2 | c.3864_3866del (p.Asn1288del) c.3495_3497del (p.Asn1165del) n.3864_3866del | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32338220_32338223del | CA019016 | BRCA2 | c.3865_3868del (p.Lys1289AlafsTer3) c.3496_3499del (p.Lys1166AlafsTer3) n.3865_3868del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338219_32338221delinsTAA | CA2082821514 | BRCA2 | c.3864_3866delinsTAA (p.Asn1288=) c.3495_3497delinsTAA (p.Asn1165=) n.3864_3866delinsTAA | |
| 13 | g.32338222dup | CA10589229 | BRCA2 | c.3867dup (p.Cys1290MetfsTer8) c.3498dup (p.Cys1167MetfsTer8) n.3867dup | ClinVar dbSNP |
| 13 | g.32338221_32338222del | CA019031 | BRCA2 | c.3866_3867del (p.Lys1289MetfsTer8) c.3497_3498del (p.Lys1166MetfsTer8) n.3866_3867del | ClinVar dbSNP |
| 13 | g.32338220_32338224delinsAAATG | CA2082821542 | BRCA2 | c.3865_3869delinsAAATG (p.Lys1289=) c.3496_3500delinsAAATG (p.Lys1166=) n.3865_3869delinsAAATG | |
| 13 | g.32338221A>C | CA387778691 | BRCA2 | c.3866A>C (p.Lys1289Thr) c.3497A>C (p.Lys1166Thr) n.3866A>C | |
| 13 | g.32338221A>G | CA387778683 | BRCA2 | c.3866A>G (p.Lys1289Arg) c.3497A>G (p.Lys1166Arg) n.3866A>G | dbSNP |
| 13 | g.32338221A>T | CA387778689 | BRCA2 | c.3866A>T (p.Lys1289Ile) c.3497A>T (p.Lys1166Ile) n.3866A>T | dbSNP |
| 13 | g.32338221_32338223dup | CA658653658 | BRCA2 | c.3866_3868dup (p.Cys1290Ter) c.3497_3499dup (p.Cys1167Ter) n.3866_3868dup | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338221_32338224del | CA10589228 | BRCA2 | c.3866_3869del (p.Lys1289ThrfsTer3) c.3497_3500del (p.Lys1166ThrfsTer3) n.3866_3869del | ClinVar dbSNP |
| 13 | g.32338222A>C | CA387778692 | BRCA2 | c.3867A>C (p.Lys1289Asn) c.3498A>C (p.Lys1166Asn) n.3867A>C | gnomAD v4 |
| 13 | g.32338222A>G | CA483438023 | BRCA2 | c.3867A>G (p.Lys1289=) c.3498A>G (p.Lys1166=) n.3867A>G | dbSNP |
| 13 | g.32338222A>T | CA387778694 | BRCA2 | c.3867A>T (p.Lys1289Asn) c.3498A>T (p.Lys1166Asn) n.3867A>T | dbSNP |
| 13 | g.32338223T>A | CA387778695 | BRCA2 | c.3868T>A (p.Cys1290Ser) c.3499T>A (p.Cys1167Ser) n.3868T>A | ClinVar dbSNP |
| 13 | g.32338223T>C | CA387778697 | BRCA2 | c.3868T>C (p.Cys1290Arg) c.3499T>C (p.Cys1167Arg) n.3868T>C | gnomAD v4 |
| 13 | g.32338223T>G | CA387778698 | BRCA2 | c.3868T>G (p.Cys1290Gly) c.3499T>G (p.Cys1167Gly) n.3868T>G | dbSNP |
| 13 | g.32338224G>A | CA019036 | BRCA2 | c.3869G>A (p.Cys1290Tyr) c.3500G>A (p.Cys1167Tyr) n.3869G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338224G>C | CA387778701 | BRCA2 | c.3869G>C (p.Cys1290Ser) c.3500G>C (p.Cys1167Ser) n.3869G>C | dbSNP |
| 13 | g.32338224G= | CA2082821572 | BRCA2 | c.3869G= (p.Cys1290=) c.3500G= (p.Cys1167=) n.3869G= | |
| 13 | g.32338224G>T | CA387778702 | BRCA2 | c.3869G>T (p.Cys1290Phe) c.3500G>T (p.Cys1167Phe) n.3869G>T | ClinVar dbSNP |
| 13 | g.32338225C>A | CA387778704 | BRCA2 | c.3870C>A (p.Cys1290Ter) c.3501C>A (p.Cys1167Ter) n.3870C>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338225C= | CA2082821577 | BRCA2 | c.3870C= (p.Cys1290=) c.3501C= (p.Cys1167=) n.3870C= | |
| 13 | g.32338225C>G | CA387778705 | BRCA2 | c.3870C>G (p.Cys1290Trp) c.3501C>G (p.Cys1167Trp) n.3870C>G | dbSNP |
| 13 | g.32338225C>T | CA483438027 | BRCA2 | c.3870C>T (p.Cys1290=) c.3501C>T (p.Cys1167=) n.3870C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338226C>A | CA387778707 | BRCA2 | c.3871C>A (p.Gln1291Lys) c.3502C>A (p.Gln1168Lys) n.3871C>A | dbSNP gnomAD v4 |
| 13 | g.32338226C= | CA2082821596 | BRCA2 | c.3871C= (p.Gln1291=) c.3502C= (p.Gln1168=) n.3871C= | |
| 13 | g.32338226C>G | CA387778708 | BRCA2 | c.3871C>G (p.Gln1291Glu) c.3502C>G (p.Gln1168Glu) n.3871C>G | dbSNP |
| 13 | g.32338226C>T | CA019043 | BRCA2 | c.3871C>T (p.Gln1291Ter) c.3502C>T (p.Gln1168Ter) n.3871C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338226_32338227delinsCA | CA2082821584 | BRCA2 | c.3871_3872delinsCA (p.Gln1291=) c.3502_3503delinsCA (p.Gln1168=) n.3871_3872delinsCA | |
| 13 | g.32338227A>C | CA387778712 | BRCA2 | c.3872A>C (p.Gln1291Pro) c.3503A>C (p.Gln1168Pro) n.3872A>C | |
| 13 | g.32338227A>G | CA387778713 | BRCA2 | c.3872A>G (p.Gln1291Arg) c.3503A>G (p.Gln1168Arg) n.3872A>G | dbSNP |
| 13 | g.32338227A>T | CA387778715 | BRCA2 | c.3872A>T (p.Gln1291Leu) c.3503A>T (p.Gln1168Leu) n.3872A>T | |
| 13 | g.32338228del | CA019049 | BRCA2 | c.3873del (p.Gln1291HisfsTer2) c.3504del (p.Gln1168HisfsTer2) n.3873del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338228A>C | CA387778719 | BRCA2 | c.3873A>C (p.Gln1291His) c.3504A>C (p.Gln1168His) n.3873A>C | |
| 13 | g.32338228A>G | CA483438029 | BRCA2 | c.3873A>G (p.Gln1291=) c.3504A>G (p.Gln1168=) n.3873A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338228A>T | CA387778721 | BRCA2 | c.3873A>T (p.Gln1291His) c.3504A>T (p.Gln1168His) n.3873A>T | dbSNP |
| 13 | g.32338229C>A | CA387778724 | BRCA2 | c.3874C>A (p.Leu1292Met) c.3505C>A (p.Leu1169Met) n.3874C>A | dbSNP |
| 13 | g.32338229C= | CA2082821611 | BRCA2 | c.3874C= (p.Leu1292=) c.3505C= (p.Leu1169=) n.3874C= | |
| 13 | g.32338229C>G | CA387778726 | BRCA2 | c.3874C>G (p.Leu1292Val) c.3505C>G (p.Leu1169Val) n.3874C>G | dbSNP |
| 13 | g.32338229C>T | CA019053 | BRCA2 | c.3874C>T (p.Leu1292=) c.3505C>T (p.Leu1169=) n.3874C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338230T>A | CA387778729 | BRCA2 | c.3875T>A (p.Leu1292Gln) c.3506T>A (p.Leu1169Gln) n.3875T>A | ClinVar dbSNP |
| 13 | g.32338230T>C | CA387778728 | BRCA2 | c.3875T>C (p.Leu1292Pro) c.3506T>C (p.Leu1169Pro) n.3875T>C | dbSNP |
| 13 | g.32338230T>G | CA387778727 | BRCA2 | c.3875T>G (p.Leu1292Arg) c.3506T>G (p.Leu1169Arg) n.3875T>G | dbSNP |
| 13 | g.32338230T= | CA2082821619 | BRCA2 | c.3875T= (p.Leu1292=) c.3506T= (p.Leu1169=) n.3875T= | |
| 13 | g.32338231G>A | CA483438034 | BRCA2 | c.3876G>A (p.Leu1292=) c.3507G>A (p.Leu1169=) n.3876G>A | dbSNP gnomAD v4 |
| 13 | g.32338231G>C | CA483438031 | BRCA2 | c.3876G>C (p.Leu1292=) c.3507G>C (p.Leu1169=) n.3876G>C | ClinVar dbSNP |
| 13 | g.32338231G>T | CA483438032 | BRCA2 | c.3876G>T (p.Leu1292=) c.3507G>T (p.Leu1169=) n.3876G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338231_32338233delinsGAT | CA2082821628 | BRCA2 | c.3876_3878delinsGAT (p.Leu1292=) c.3507_3509delinsGAT (p.Leu1169=) n.3876_3878delinsGAT |