Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32338423_32338441dup | CA2695199713 | BRCA2 | c.4068_4086dup (p.Asn1363AlafsTer4) c.3699_3717dup (p.Asn1240AlafsTer4) n.4068_4086dup | ClinVar |
13 | g.32338426A= | CA2082823579 | BRCA2 | c.4071A= (p.Leu1357=) c.3702A= (p.Leu1234=) n.4071A= | |
13 | g.32338426A>C | CA019469 | BRCA2 | c.4071A>C (p.Leu1357=) c.3702A>C (p.Leu1234=) n.4071A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338426A>G | CA16613877 | BRCA2 | c.4071A>G (p.Leu1357=) c.3702A>G (p.Leu1234=) n.4071A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338426A>T | CA483438167 | BRCA2 | c.4071A>T (p.Leu1357=) c.3702A>T (p.Leu1234=) n.4071A>T | |
13 | g.32338427T>A | CA387779151 | BRCA2 | c.4072T>A (p.Phe1358Ile) c.3703T>A (p.Phe1235Ile) n.4072T>A | dbSNP |
13 | g.32338427T>C | CA387779152 | BRCA2 | c.4072T>C (p.Phe1358Leu) c.3703T>C (p.Phe1235Leu) n.4072T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32338427T>G | CA387779153 | BRCA2 | c.4072T>G (p.Phe1358Val) c.3703T>G (p.Phe1235Val) n.4072T>G | ClinVar dbSNP |
13 | g.32338427T= | CA2082823593 | BRCA2 | c.4072T= (p.Phe1358=) c.3703T= (p.Phe1235=) n.4072T= | |
13 | g.32338429dup | CA2697551725 | BRCA2 | c.4074dup (p.Thr1359TyrfsTer2) c.3705dup (p.Thr1236TyrfsTer2) n.4074dup | ClinVar |
13 | g.32338429del | CA2727931468 | BRCA2 | c.4074del (p.Phe1358LeufsTer16) c.3705del (p.Phe1235LeufsTer16) n.4074del | dbSNP |
13 | g.32338428T>A | CA387779156 | BRCA2 | c.4073T>A (p.Phe1358Tyr) c.3704T>A (p.Phe1235Tyr) n.4073T>A | dbSNP |
13 | g.32338428T>C | CA387779154 | BRCA2 | c.4073T>C (p.Phe1358Ser) c.3704T>C (p.Phe1235Ser) n.4073T>C | |
13 | g.32338428T>G | CA387779155 | BRCA2 | c.4073T>G (p.Phe1358Cys) c.3704T>G (p.Phe1235Cys) n.4073T>G | dbSNP |
13 | g.32338429T>A | CA387779157 | BRCA2 | c.4074T>A (p.Phe1358Leu) c.3705T>A (p.Phe1235Leu) n.4074T>A | dbSNP |
13 | g.32338429T>C | CA483438170 | BRCA2 | c.4074T>C (p.Phe1358=) c.3705T>C (p.Phe1235=) n.4074T>C | ClinVar dbSNP |
13 | g.32338429T>G | CA387779158 | BRCA2 | c.4074T>G (p.Phe1358Leu) c.3705T>G (p.Phe1235Leu) n.4074T>G | |
13 | g.32338429T= | CA2082823600 | BRCA2 | c.4074T= (p.Phe1358=) c.3705T= (p.Phe1235=) n.4074T= | |
13 | g.32338430A= | CA2082823609 | BRCA2 | c.4075A= (p.Thr1359=) c.3706A= (p.Thr1236=) n.4075A= | |
13 | g.32338430A>C | CA387779159 | BRCA2 | c.4075A>C (p.Thr1359Pro) c.3706A>C (p.Thr1236Pro) n.4075A>C | dbSNP |
13 | g.32338430A>G | CA387779160 | BRCA2 | c.4075A>G (p.Thr1359Ala) c.3706A>G (p.Thr1236Ala) n.4075A>G | ClinVar dbSNP |
13 | g.32338430A>T | CA387779161 | BRCA2 | c.4075A>T (p.Thr1359Ser) c.3706A>T (p.Thr1236Ser) n.4075A>T | dbSNP |
13 | g.32338430_32338431del | CA1139770840 | BRCA2 | c.4075_4076del (p.Thr1359Ter) c.3706_3707del (p.Thr1236Ter) n.4075_4076del | |
13 | g.32338430_32338431delinsAC | CA2082823608 | BRCA2 | c.4075_4076delinsAC (p.Thr1359=) c.3706_3707delinsAC (p.Thr1236=) n.4075_4076delinsAC | |
13 | g.32338431del | CA019472 | BRCA2 | c.4076del (p.Thr1359MetfsTer15) c.3707del (p.Thr1236MetfsTer15) n.4076del | ClinVar dbSNP |
13 | g.32338431C>A | CA387779163 | BRCA2 | c.4076C>A (p.Thr1359Asn) c.3707C>A (p.Thr1236Asn) n.4076C>A | dbSNP |
13 | g.32338431C= | CA2082823621 | BRCA2 | c.4076C= (p.Thr1359=) c.3707C= (p.Thr1236=) n.4076C= | |
13 | g.32338431C>G | CA387779167 | BRCA2 | c.4076C>G (p.Thr1359Ser) c.3707C>G (p.Thr1236Ser) n.4076C>G | dbSNP |
13 | g.32338431C>T | CA10583099 | BRCA2 | c.4076C>T (p.Thr1359Ile) c.3707C>T (p.Thr1236Ile) n.4076C>T | ClinVar dbSNP COSMIC COSMIC |
13 | g.32338432T>A | CA483438174 | BRCA2 | c.4077T>A (p.Thr1359=) c.3708T>A (p.Thr1236=) n.4077T>A | dbSNP |
13 | g.32338432T>C | CA16607465 | BRCA2 | c.4077T>C (p.Thr1359=) c.3708T>C (p.Thr1236=) n.4077T>C | ClinVar dbSNP |
13 | g.32338432T>G | CA483438175 | BRCA2 | c.4077T>G (p.Thr1359=) c.3708T>G (p.Thr1236=) n.4077T>G | |
13 | g.32338432T= | CA2082823629 | BRCA2 | c.4077T= (p.Thr1359=) c.3708T= (p.Thr1236=) n.4077T= | |
13 | g.32338433del | CA2499222153 | BRCA2 | c.4078del (p.Asp1360IlefsTer14) c.3709del (p.Asp1237IlefsTer14) n.4078del | ClinVar dbSNP |
13 | g.32338433G>A | CA387779168 | BRCA2 | c.4078G>A (p.Asp1360Asn) c.3709G>A (p.Asp1237Asn) n.4078G>A | |
13 | g.32338433G>C | CA387779170 | BRCA2 | c.4078G>C (p.Asp1360His) c.3709G>C (p.Asp1237His) n.4078G>C | |
13 | g.32338433G>T | CA387779171 | BRCA2 | c.4078G>T (p.Asp1360Tyr) c.3709G>T (p.Asp1237Tyr) n.4078G>T | ClinVar gnomAD v4 |
13 | g.32338434A= | CA2082823649 | BRCA2 | c.4079A= (p.Asp1360=) c.3710A= (p.Asp1237=) n.4079A= | |
13 | g.32338434A>C | CA387779173 | BRCA2 | c.4079A>C (p.Asp1360Ala) c.3710A>C (p.Asp1237Ala) n.4079A>C | |
13 | g.32338434A>G | CA019477 | BRCA2 | c.4079A>G (p.Asp1360Gly) c.3710A>G (p.Asp1237Gly) n.4079A>G | ClinVar dbSNP |
13 | g.32338434A>T | CA387779175 | BRCA2 | c.4079A>T (p.Asp1360Val) c.3710A>T (p.Asp1237Val) n.4079A>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338435_32338443del | CA2580614674 | BRCA2 | c.4080_4088del (p.Gln1361_Asn1363del) c.3711_3719del (p.Gln1238_Asn1240del) n.4080_4088del | ClinVar |
13 | g.32338435T>A | CA387779177 | BRCA2 | c.4080T>A (p.Asp1360Glu) c.3711T>A (p.Asp1237Glu) n.4080T>A | dbSNP |
13 | g.32338435T>C | CA483438180 | BRCA2 | c.4080T>C (p.Asp1360=) c.3711T>C (p.Asp1237=) n.4080T>C | |
13 | g.32338435T>G | CA387779178 | BRCA2 | c.4080T>G (p.Asp1360Glu) c.3711T>G (p.Asp1237Glu) n.4080T>G | |
13 | g.32338435_32338438delinsTCAG | CA2082823655 | BRCA2 | c.4080_4083delinsTCAG (p.Asp1360=) c.3711_3714delinsTCAG (p.Asp1237=) n.4080_4083delinsTCAG | |
13 | g.32338436C>A | CA387779180 | BRCA2 | c.4081C>A (p.Gln1361Lys) c.3712C>A (p.Gln1238Lys) n.4081C>A | |
13 | g.32338436C= | CA2082823680 | BRCA2 | c.4081C= (p.Gln1361=) c.3712C= (p.Gln1238=) n.4081C= | |
13 | g.32338436C>G | CA019486 | BRCA2 | c.4081C>G (p.Gln1361Glu) c.3712C>G (p.Gln1238Glu) n.4081C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32338436C>T | CA247506459 | BRCA2 | c.4081C>T (p.Gln1361Ter) c.3712C>T (p.Gln1238Ter) n.4081C>T | ClinVar dbSNP |