Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32328077_32337667del | CA2580087045 | BRCA2 | c.632-1366_3312del c.263-1366_2943del n.632-1366_3312del | ClinVar |
13 | g.32337556_32337600delinsTGTATCTGCACATTTACAGAGTAGTGTAGTTGTTTCTGATTGTAA | CA2082815219 | BRCA2 | c.3201_3245delinsTGTATCTGCACATTTACAGAGTAGTGTAGTTGTTTCTGATTGTAA (p.Thr1067=) c.2832_2876delinsTGTATCTGCACATTTACAGAGTAGTGTAGTTGTTTCTGATTGTAA (p.Thr944=) n.3201_3245delinsTGTATCTGCACATTTACAGAGTAGTGTAGTTGTTTCTGATTGTAA | |
13 | g.32337557_32337600del | CA913190906 | BRCA2 | c.3202_3245del (p.Val1068LysfsTer2) c.2833_2876del (p.Val945LysfsTer2) n.3202_3245del | ClinVar dbSNP |
13 | g.32337594A= | CA2082815464 | BRCA2 | c.3239A= (p.Asp1080=) c.2870A= (p.Asp957=) n.3239A= | |
13 | g.32337594A>C | CA387775938 | BRCA2 | c.3239A>C (p.Asp1080Ala) c.2870A>C (p.Asp957Ala) n.3239A>C | |
13 | g.32337594A>G | CA387775939 | BRCA2 | c.3239A>G (p.Asp1080Gly) c.2870A>G (p.Asp957Gly) n.3239A>G | dbSNP |
13 | g.32337594A>T | CA387775940 | BRCA2 | c.3239A>T (p.Asp1080Val) c.2870A>T (p.Asp957Val) n.3239A>T | ClinVar dbSNP |
13 | g.32337594_32337595delinsAT | CA2082815463 | BRCA2 | c.3239_3240delinsAT (p.Asp1080=) c.2870_2871delinsAT (p.Asp957=) n.3239_3240delinsAT | |
13 | g.32337595T>A | CA387775941 | BRCA2 | c.3240T>A (p.Asp1080Glu) c.2871T>A (p.Asp957Glu) n.3240T>A | dbSNP |
13 | g.32337595T>C | CA483437580 | BRCA2 | c.3240T>C (p.Asp1080=) c.2871T>C (p.Asp957=) n.3240T>C | dbSNP |
13 | g.32337595T>G | CA387775942 | BRCA2 | c.3240T>G (p.Asp1080Glu) c.2871T>G (p.Asp957Glu) n.3240T>G | dbSNP |
13 | g.32337595T= | CA2082815471 | BRCA2 | c.3240T= (p.Asp1080=) c.2871T= (p.Asp957=) n.3240T= | |
13 | g.32337596del | CA915948449 | BRCA2 | c.3241del (p.Cys1081ValfsTer6) c.2872del (p.Cys958ValfsTer6) n.3241del | ClinVar dbSNP |
13 | g.32337596T>A | CA387775945 | BRCA2 | c.3241T>A (p.Cys1081Ser) c.2872T>A (p.Cys958Ser) n.3241T>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337596T>C | CA387775943 | BRCA2 | c.3241T>C (p.Cys1081Arg) c.2872T>C (p.Cys958Arg) n.3241T>C | ClinVar dbSNP |
13 | g.32337596T>G | CA387775944 | BRCA2 | c.3241T>G (p.Cys1081Gly) c.2872T>G (p.Cys958Gly) n.3241T>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337596T= | CA2082815480 | BRCA2 | c.3241T= (p.Cys1081=) c.2872T= (p.Cys958=) n.3241T= | |
13 | g.32337597G>A | CA16619694 | BRCA2 | c.3242G>A (p.Cys1081Tyr) c.2873G>A (p.Cys958Tyr) n.3242G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337597G>C | CA387775946 | BRCA2 | c.3242G>C (p.Cys1081Ser) c.2873G>C (p.Cys958Ser) n.3242G>C | dbSNP |
13 | g.32337597G= | CA2082815493 | BRCA2 | c.3242G= (p.Cys1081=) c.2873G= (p.Cys958=) n.3242G= | |
13 | g.32337597G>T | CA6940680 | BRCA2 | c.3242G>T (p.Cys1081Phe) c.2873G>T (p.Cys958Phe) n.3242G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337598T>A | CA387775947 | BRCA2 | c.3243T>A (p.Cys1081Ter) c.2874T>A (p.Cys958Ter) n.3243T>A | |
13 | g.32337598T>C | CA483437581 | BRCA2 | c.3243T>C (p.Cys1081=) c.2874T>C (p.Cys958=) n.3243T>C | |
13 | g.32337598T>G | CA387775948 | BRCA2 | c.3243T>G (p.Cys1081Trp) c.2874T>G (p.Cys958Trp) n.3243T>G | |
13 | g.32337598_32337599delinsTA | CA2082815499 | BRCA2 | c.3243_3244delinsTA (p.Cys1081=) c.2874_2875delinsTA (p.Cys958=) n.3243_3244delinsTA | |
13 | g.32337599A= | CA2082815510 | BRCA2 | c.3244A= (p.Lys1082=) c.2875A= (p.Lys959=) n.3244A= | |
13 | g.32337599A>C | CA387775949 | BRCA2 | c.3244A>C (p.Lys1082Gln) c.2875A>C (p.Lys959Gln) n.3244A>C | |
13 | g.32337599A>G | CA387775951 | BRCA2 | c.3244A>G (p.Lys1082Glu) c.2875A>G (p.Lys959Glu) n.3244A>G | gnomAD v4 |
13 | g.32337599A>T | CA10589192 | BRCA2 | c.3244A>T (p.Lys1082Ter) c.2875A>T (p.Lys959Ter) n.3244A>T | ClinVar dbSNP |
13 | g.32337603dup | CA10589194 | BRCA2 | c.3248dup (p.Asn1083LysfsTer2) c.2879dup (p.Asn960LysfsTer2) n.3248dup | ClinVar dbSNP |
13 | g.32337603del | CA10589193 | BRCA2 | c.3248del (p.Asn1083IlefsTer4) c.2879del (p.Asn960IlefsTer4) n.3248del | ClinVar dbSNP |
13 | g.32337600A= | CA2082815522 | BRCA2 | c.3245A= (p.Lys1082=) c.2876A= (p.Lys959=) n.3245A= | |
13 | g.32337600A>C | CA387775954 | BRCA2 | c.3245A>C (p.Lys1082Thr) c.2876A>C (p.Lys959Thr) n.3245A>C | |
13 | g.32337600A>G | CA017616 | BRCA2 | c.3245A>G (p.Lys1082Arg) c.2876A>G (p.Lys959Arg) n.3245A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32337600A>T | CA387775957 | BRCA2 | c.3245A>T (p.Lys1082Ile) c.2876A>T (p.Lys959Ile) n.3245A>T | dbSNP |
13 | g.32337601A>C | CA387775959 | BRCA2 | c.3246A>C (p.Lys1082Asn) c.2877A>C (p.Lys959Asn) n.3246A>C | |
13 | g.32337601A>G | CA483437586 | BRCA2 | c.3246A>G (p.Lys1082=) c.2877A>G (p.Lys959=) n.3246A>G | ClinVar dbSNP |
13 | g.32337601A>T | CA387775960 | BRCA2 | c.3246A>T (p.Lys1082Asn) c.2877A>T (p.Lys959Asn) n.3246A>T | dbSNP |
13 | g.32337602A= | CA2082815526 | BRCA2 | c.3247A= (p.Asn1083=) c.2878A= (p.Asn960=) n.3247A= | |
13 | g.32337602A>C | CA6940681 | BRCA2 | c.3247A>C (p.Asn1083His) c.2878A>C (p.Asn960His) n.3247A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337602A>G | CA387775963 | BRCA2 | c.3247A>G (p.Asn1083Asp) c.2878A>G (p.Asn960Asp) n.3247A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337602A>T | CA387775964 | BRCA2 | c.3247A>T (p.Asn1083Tyr) c.2878A>T (p.Asn960Tyr) n.3247A>T | dbSNP |
13 | g.32337603A= | CA2082815534 | BRCA2 | c.3248A= (p.Asn1083=) c.2879A= (p.Asn960=) n.3248A= | |
13 | g.32337603A>C | CA387775966 | BRCA2 | c.3248A>C (p.Asn1083Thr) c.2879A>C (p.Asn960Thr) n.3248A>C | |
13 | g.32337603A>G | CA6940682 | BRCA2 | c.3248A>G (p.Asn1083Ser) c.2879A>G (p.Asn960Ser) n.3248A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32337603A>T | CA387775968 | BRCA2 | c.3248A>T (p.Asn1083Ile) c.2879A>T (p.Asn960Ile) n.3248A>T | dbSNP |
13 | g.32337604T>A | CA387775970 | BRCA2 | c.3249T>A (p.Asn1083Lys) c.2880T>A (p.Asn960Lys) n.3249T>A | dbSNP |
13 | g.32337604T>C | CA10579567 | BRCA2 | c.3249T>C (p.Asn1083=) c.2880T>C (p.Asn960=) n.3249T>C | ClinVar dbSNP gnomAD v4 |
13 | g.32337604T>G | CA387775972 | BRCA2 | c.3249T>G (p.Asn1083Lys) c.2880T>G (p.Asn960Lys) n.3249T>G | |
13 | g.32337604T= | CA2082815539 | BRCA2 | c.3249T= (p.Asn1083=) c.2880T= (p.Asn960=) n.3249T= |