Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32338701_32338705del | CA645509346 | BRCA2 | c.4346_4350del (p.Phe1449Ter) c.3977_3981del (p.Phe1326Ter) n.4346_4350del | ClinVar dbSNP |
13 | g.32338705dup | CA2580087275 | BRCA2 | c.4350dup (p.Asp1451Ter) c.3981dup (p.Asp1328Ter) n.4350dup | ClinVar |
13 | g.32338704T>A | CA387780921 | BRCA2 | c.4349T>A (p.Phe1450Tyr) c.3980T>A (p.Phe1327Tyr) n.4349T>A | dbSNP |
13 | g.32338704T>C | CA020021 | BRCA2 | c.4349T>C (p.Phe1450Ser) c.3980T>C (p.Phe1327Ser) n.4349T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32338704T>G | CA387780924 | BRCA2 | c.4349T>G (p.Phe1450Cys) c.3980T>G (p.Phe1327Cys) n.4349T>G | |
13 | g.32338704T= | CA2082810885 | BRCA2 | c.4349T= (p.Phe1450=) c.3980T= (p.Phe1327=) n.4349T= | |
13 | g.32338705T>A | CA387780926 | BRCA2 | c.4350T>A (p.Phe1450Leu) c.3981T>A (p.Phe1327Leu) n.4350T>A | dbSNP |
13 | g.32338705T>C | CA483438254 | BRCA2 | c.4350T>C (p.Phe1450=) c.3981T>C (p.Phe1327=) n.4350T>C | COSMIC COSMIC |
13 | g.32338705T>G | CA387780927 | BRCA2 | c.4350T>G (p.Phe1450Leu) c.3981T>G (p.Phe1327Leu) n.4350T>G | |
13 | g.32338706G>A | CA387780929 | BRCA2 | c.4351G>A (p.Asp1451Asn) c.3982G>A (p.Asp1328Asn) n.4351G>A | ClinVar dbSNP |
13 | g.32338706G>C | CA387780930 | BRCA2 | c.4351G>C (p.Asp1451His) c.3982G>C (p.Asp1328His) n.4351G>C | dbSNP |
13 | g.32338706G= | CA2082810898 | BRCA2 | c.4351G= (p.Asp1451=) c.3982G= (p.Asp1328=) n.4351G= | |
13 | g.32338706G>T | CA387780933 | BRCA2 | c.4351G>T (p.Asp1451Tyr) c.3982G>T (p.Asp1328Tyr) n.4351G>T | dbSNP gnomAD v4 |
13 | g.32338706_32338713delinsGATCAGAA | CA2082810897 | BRCA2 | c.4351_4358delinsGATCAGAA (p.Asp1451=) c.3982_3989delinsGATCAGAA (p.Asp1328=) n.4351_4358delinsGATCAGAA | |
13 | g.32338707A= | CA2082810910 | BRCA2 | c.4352A= (p.Asp1451=) c.3983A= (p.Asp1328=) n.4352A= | |
13 | g.32338707A>C | CA387780936 | BRCA2 | c.4352A>C (p.Asp1451Ala) c.3983A>C (p.Asp1328Ala) n.4352A>C | ClinVar |
13 | g.32338707A>G | CA020025 | BRCA2 | c.4352A>G (p.Asp1451Gly) c.3983A>G (p.Asp1328Gly) n.4352A>G | ClinVar dbSNP |
13 | g.32338707A>T | CA387780934 | BRCA2 | c.4352A>T (p.Asp1451Val) c.3983A>T (p.Asp1328Val) n.4352A>T | ClinVar dbSNP |
13 | g.32338708_32338714del | CA658823579 | BRCA2 | c.4353_4359del (p.Pro1454AsnfsTer7) c.3984_3990del (p.Pro1331AsnfsTer7) n.4353_4359del | ClinVar dbSNP |
13 | g.32338708T>A | CA387780940 | BRCA2 | c.4353T>A (p.Asp1451Glu) c.3984T>A (p.Asp1328Glu) n.4353T>A | dbSNP |
13 | g.32338708T>C | CA483438258 | BRCA2 | c.4353T>C (p.Asp1451=) c.3984T>C (p.Asp1328=) n.4353T>C | ClinVar dbSNP |
13 | g.32338708T>G | CA387780938 | BRCA2 | c.4353T>G (p.Asp1451Glu) c.3984T>G (p.Asp1328Glu) n.4353T>G | ClinVar dbSNP |
13 | g.32338708T= | CA2082810925 | BRCA2 | c.4353T= (p.Asp1451=) c.3984T= (p.Asp1328=) n.4353T= | |
13 | g.32338709C>A | CA387780943 | BRCA2 | c.4354C>A (p.Gln1452Lys) c.3985C>A (p.Gln1329Lys) n.4354C>A | dbSNP |
13 | g.32338709C= | CA2082810939 | BRCA2 | c.4354C= (p.Gln1452=) c.3985C= (p.Gln1329=) n.4354C= | |
13 | g.32338709C>G | CA020031 | BRCA2 | c.4354C>G (p.Gln1452Glu) c.3985C>G (p.Gln1329Glu) n.4354C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338709C>T | CA16606424 | BRCA2 | c.4354C>T (p.Gln1452Ter) c.3985C>T (p.Gln1329Ter) n.4354C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338710A= | CA2082810948 | BRCA2 | c.4355A= (p.Gln1452=) c.3986A= (p.Gln1329=) n.4355A= | |
13 | g.32338710A>C | CA387780945 | BRCA2 | c.4355A>C (p.Gln1452Pro) c.3986A>C (p.Gln1329Pro) n.4355A>C | |
13 | g.32338710A>G | CA10579612 | BRCA2 | c.4355A>G (p.Gln1452Arg) c.3986A>G (p.Gln1329Arg) n.4355A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338710A>T | CA387780948 | BRCA2 | c.4355A>T (p.Gln1452Leu) c.3986A>T (p.Gln1329Leu) n.4355A>T | dbSNP |
13 | g.32338711G>A | CA483438261 | BRCA2 | c.4356G>A (p.Gln1452=) c.3987G>A (p.Gln1329=) n.4356G>A | dbSNP gnomAD v4 |
13 | g.32338711G>C | CA387780949 | BRCA2 | c.4356G>C (p.Gln1452His) c.3987G>C (p.Gln1329His) n.4356G>C | dbSNP |
13 | g.32338711G>T | CA387780950 | BRCA2 | c.4356G>T (p.Gln1452His) c.3987G>T (p.Gln1329His) n.4356G>T | |
13 | g.32338712A= | CA2082810957 | BRCA2 | c.4357A= (p.Lys1453=) c.3988A= (p.Lys1330=) n.4357A= | |
13 | g.32338712A>C | CA387780951 | BRCA2 | c.4357A>C (p.Lys1453Gln) c.3988A>C (p.Lys1330Gln) n.4357A>C | |
13 | g.32338712A>G | CA020036 | BRCA2 | c.4357A>G (p.Lys1453Glu) c.3988A>G (p.Lys1330Glu) n.4357A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338712A>T | CA387780952 | BRCA2 | c.4357A>T (p.Lys1453Ter) c.3988A>T (p.Lys1330Ter) n.4357A>T | dbSNP COSMIC COSMIC |
13 | g.32338713A= | CA2082810967 | BRCA2 | c.4358A= (p.Lys1453=) c.3989A= (p.Lys1330=) n.4358A= | |
13 | g.32338713A>C | CA387780954 | BRCA2 | c.4358A>C (p.Lys1453Thr) c.3989A>C (p.Lys1330Thr) n.4358A>C | ClinVar |
13 | g.32338713A>G | CA387780955 | BRCA2 | c.4358A>G (p.Lys1453Arg) c.3989A>G (p.Lys1330Arg) n.4358A>G | ClinVar dbSNP |
13 | g.32338713A>T | CA387780957 | BRCA2 | c.4358A>T (p.Lys1453Ile) c.3989A>T (p.Lys1330Ile) n.4358A>T | dbSNP |
13 | g.32338714A= | CA2082810976 | BRCA2 | c.4359A= (p.Lys1453=) c.3990A= (p.Lys1330=) n.4359A= | |
13 | g.32338714A>C | CA387780962 | BRCA2 | c.4359A>C (p.Lys1453Asn) c.3990A>C (p.Lys1330Asn) n.4359A>C | |
13 | g.32338714A>G | CA6940773 | BRCA2 | c.4359A>G (p.Lys1453=) c.3990A>G (p.Lys1330=) n.4359A>G | ClinVar dbSNP ExAC gnomAD v2 |
13 | g.32338714A>T | CA387780960 | BRCA2 | c.4359A>T (p.Lys1453Asn) c.3990A>T (p.Lys1330Asn) n.4359A>T | ClinVar dbSNP |
13 | g.32338714_32338715delinsAC | CA2082810972 | BRCA2 | c.4359_4360delinsAC (p.Lys1453=) c.3990_3991delinsAC (p.Lys1330=) n.4359_4360delinsAC | |
13 | g.32338715C>A | CA387780965 | BRCA2 | c.4360C>A (p.Pro1454Thr) c.3991C>A (p.Pro1331Thr) n.4360C>A | dbSNP |
13 | g.32338715C= | CA2082810985 | BRCA2 | c.4360C= (p.Pro1454=) c.3991C= (p.Pro1331=) n.4360C= | |
13 | g.32338715C>G | CA387780966 | BRCA2 | c.4360C>G (p.Pro1454Ala) c.3991C>G (p.Pro1331Ala) n.4360C>G | dbSNP gnomAD v3 gnomAD v4 |