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.32338316_32338326del | CA2697551724 | BRCA2 | c.3961_3971del (p.Asp1321TyrfsTer5) c.3592_3602del (p.Asp1198TyrfsTer5) n.3961_3971del | |
13 | g.32338318_32338321delinsTAAC | CA2082822473 | BRCA2 | c.3963_3966delinsTAAC (p.Asp1321=) c.3594_3597delinsTAAC (p.Asp1198=) n.3963_3966delinsTAAC | |
13 | g.32338321_32338323del | CA019288 | BRCA2 | c.3966_3968del (p.Asn1322del) c.3597_3599del (p.Asn1199del) n.3966_3968del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338321C>A | CA387778923 | BRCA2 | c.3966C>A (p.Asn1322Lys) c.3597C>A (p.Asn1199Lys) n.3966C>A | dbSNP gnomAD v4 |
13 | g.32338321C= | CA2082822520 | BRCA2 | c.3966C= (p.Asn1322=) c.3597C= (p.Asn1199=) n.3966C= | |
13 | g.32338321C>G | CA019298 | BRCA2 | c.3966C>G (p.Asn1322Lys) c.3597C>G (p.Asn1199Lys) n.3966C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338321C>T | CA019300 | BRCA2 | c.3966C>T (p.Asn1322=) c.3597C>T (p.Asn1199=) n.3966C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338321_32338325delinsCAAAT | CA2082822513 | BRCA2 | c.3966_3970delinsCAAAT (p.Asn1322=) c.3597_3601delinsCAAAT (p.Asn1199=) n.3966_3970delinsCAAAT | |
13 | g.32338322A= | CA2082822530 | BRCA2 | c.3967A= (p.Lys1323=) c.3598A= (p.Lys1200=) n.3967A= | |
13 | g.32338322A>C | CA387778924 | BRCA2 | c.3967A>C (p.Lys1323Gln) c.3598A>C (p.Lys1200Gln) n.3967A>C | ClinVar |
13 | g.32338322A>G | CA387778925 | BRCA2 | c.3967A>G (p.Lys1323Glu) c.3598A>G (p.Lys1200Glu) n.3967A>G | ClinVar dbSNP |
13 | g.32338322A>T | CA019306 | BRCA2 | c.3967A>T (p.Lys1323Ter) c.3598A>T (p.Lys1200Ter) n.3967A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338323_32338324del | CA2499222149 | BRCA2 | c.3968_3969del (p.Lys1323IlefsTer6) c.3599_3600del (p.Lys1200IlefsTer6) n.3968_3969del | ClinVar dbSNP |
13 | g.32338323_32338326del | CA10589233 | BRCA2 | c.3968_3971del (p.Lys1323IlefsTer11) c.3599_3602del (p.Lys1200IlefsTer11) n.3968_3971del | ClinVar dbSNP |
13 | g.32338323A= | CA2082822542 | BRCA2 | c.3968A= (p.Lys1323=) c.3599A= (p.Lys1200=) n.3968A= | |
13 | g.32338323A>C | CA387778928 | BRCA2 | c.3968A>C (p.Lys1323Thr) c.3599A>C (p.Lys1200Thr) n.3968A>C | |
13 | g.32338323A>G | CA387778927 | BRCA2 | c.3968A>G (p.Lys1323Arg) c.3599A>G (p.Lys1200Arg) n.3968A>G | ClinVar dbSNP |
13 | g.32338323A>T | CA387778926 | BRCA2 | c.3968A>T (p.Lys1323Ile) c.3599A>T (p.Lys1200Ile) n.3968A>T | dbSNP |
13 | g.32338323_32338325delinsAAT | CA2082822541 | BRCA2 | c.3968_3970delinsAAT (p.Lys1323=) c.3599_3601delinsAAT (p.Lys1200=) n.3968_3970delinsAAT | |
13 | g.32338324A= | CA2082822557 | BRCA2 | c.3969A= (p.Lys1323=) c.3600A= (p.Lys1200=) n.3969A= | |
13 | g.32338324A>C | CA387778929 | BRCA2 | c.3969A>C (p.Lys1323Asn) c.3600A>C (p.Lys1200Asn) n.3969A>C | |
13 | g.32338324A>G | CA483437968 | BRCA2 | c.3969A>G (p.Lys1323=) c.3600A>G (p.Lys1200=) n.3969A>G | ClinVar dbSNP |
13 | g.32338324A>T | CA387778930 | BRCA2 | c.3969A>T (p.Lys1323Asn) c.3600A>T (p.Lys1200Asn) n.3969A>T | |
13 | g.32338327_32338328del | CA10589234 | BRCA2 | c.3972_3973del (p.Thr1325CysfsTer4) c.3603_3604del (p.Thr1202CysfsTer4) n.3972_3973del | dbSNP |
13 | g.32338324_32338325insCT | CA913188551 | BRCA2 | c.3969_3970insCT (p.Tyr1324LeufsTer12) c.3600_3601insCT (p.Tyr1201LeufsTer12) n.3969_3970insCT | |
13 | g.32338325T>A | CA387778931 | BRCA2 | c.3970T>A (p.Tyr1324Asn) c.3601T>A (p.Tyr1201Asn) n.3970T>A | dbSNP |
13 | g.32338325T>C | CA10584444 | BRCA2 | c.3970T>C (p.Tyr1324His) c.3601T>C (p.Tyr1201His) n.3970T>C | ClinVar dbSNP |
13 | g.32338325T>G | CA387778932 | BRCA2 | c.3970T>G (p.Tyr1324Asp) c.3601T>G (p.Tyr1201Asp) n.3970T>G | dbSNP |
13 | g.32338325T= | CA2082822565 | BRCA2 | c.3970T= (p.Tyr1324=) c.3601T= (p.Tyr1201=) n.3970T= | |
13 | g.32338325_32338326delinsTA | CA2082822562 | BRCA2 | c.3970_3971delinsTA (p.Tyr1324=) c.3601_3602delinsTA (p.Tyr1201=) n.3970_3971delinsTA | |
13 | g.32338326del | CA658761227 | BRCA2 | c.3971del (p.Tyr1324LeufsTer11) c.3602del (p.Tyr1201LeufsTer11) n.3971del | ClinVar dbSNP |
13 | g.32338326A= | CA2082822588 | BRCA2 | c.3971A= (p.Tyr1324=) c.3602A= (p.Tyr1201=) n.3971A= | |
13 | g.32338326A>C | CA387778933 | BRCA2 | c.3971A>C (p.Tyr1324Ser) c.3602A>C (p.Tyr1201Ser) n.3971A>C | ClinVar dbSNP |
13 | g.32338326A>G | CA387778934 | BRCA2 | c.3971A>G (p.Tyr1324Cys) c.3602A>G (p.Tyr1201Cys) n.3971A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338326A>T | CA387778935 | BRCA2 | c.3971A>T (p.Tyr1324Phe) c.3602A>T (p.Tyr1201Phe) n.3971A>T | |
13 | g.32338326_32338330delinsATACT | CA2082822578 | BRCA2 | c.3971_3975delinsATACT (p.Tyr1324=) c.3602_3606delinsATACT (p.Tyr1201=) n.3971_3975delinsATACT | |
13 | g.32338327T>A | CA387778936 | BRCA2 | c.3972T>A (p.Tyr1324Ter) c.3603T>A (p.Tyr1201Ter) n.3972T>A | dbSNP gnomAD v4 |
13 | g.32338327T>C | CA483437973 | BRCA2 | c.3972T>C (p.Tyr1324=) c.3603T>C (p.Tyr1201=) n.3972T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338327T>G | CA387778937 | BRCA2 | c.3972T>G (p.Tyr1324Ter) c.3603T>G (p.Tyr1201Ter) n.3972T>G | ClinVar dbSNP |
13 | g.32338327T= | CA2082822600 | BRCA2 | c.3972T= (p.Tyr1324=) c.3603T= (p.Tyr1201=) n.3972T= | |
13 | g.32338327_32338330del | CA10589235 | BRCA2 | c.3972_3975del (p.Tyr1324Ter) c.3603_3606del (p.Tyr1201Ter) n.3972_3975del | ClinVar dbSNP |
13 | g.32338328A>C | CA387778939 | BRCA2 | c.3973A>C (p.Thr1325Pro) c.3604A>C (p.Thr1202Pro) n.3973A>C | dbSNP |
13 | g.32338328A>G | CA387778940 | BRCA2 | c.3973A>G (p.Thr1325Ala) c.3604A>G (p.Thr1202Ala) n.3973A>G | |
13 | g.32338328A>T | CA387778938 | BRCA2 | c.3973A>T (p.Thr1325Ser) c.3604A>T (p.Thr1202Ser) n.3973A>T | dbSNP |
13 | g.32338329C>A | CA387778942 | BRCA2 | c.3974C>A (p.Thr1325Asn) c.3605C>A (p.Thr1202Asn) n.3974C>A | |
13 | g.32338329C= | CA2082822617 | BRCA2 | c.3974C= (p.Thr1325=) c.3605C= (p.Thr1202=) n.3974C= | |
13 | g.32338329C>G | CA387778941 | BRCA2 | c.3974C>G (p.Thr1325Ser) c.3605C>G (p.Thr1202Ser) n.3974C>G | ClinVar dbSNP |
13 | g.32338329C>T | CA387778943 | BRCA2 | c.3974C>T (p.Thr1325Ile) c.3605C>T (p.Thr1202Ile) n.3974C>T | ClinVar dbSNP |
13 | g.32338330T>A | CA483437978 | BRCA2 | c.3975T>A (p.Thr1325=) c.3606T>A (p.Thr1202=) n.3975T>A | ClinVar dbSNP gnomAD v4 |