| 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.32336269_32337451del | CA2581463478 | BRCA2 | c.1914_3096del (p.Leu639IlefsTer10) c.1545_2727del (p.Leu516IlefsTer10) n.1914_3096del | |
| 13 | g.32336688_32336691dup | CA2695218000 | BRCA2 | c.2333_2336dup (p.Asn781ValfsTer8) c.1964_1967dup (p.Asn658ValfsTer8) n.2333_2336dup | |
| 13 | g.32336690_32336691delinsCT | CA2082751556 | BRCA2 | c.2335_2336delinsCT (p.Leu779=) c.1966_1967delinsCT (p.Leu656=) n.2335_2336delinsCT | |
| 13 | g.32336691del | CA16619671 | BRCA2 | c.2336del (p.Leu779ArgfsTer4) c.1967del (p.Leu656ArgfsTer4) n.2336del | ClinVar dbSNP |
| 13 | g.32336691T>A | CA387771552 | BRCA2 | c.2336T>A (p.Leu779Gln) c.1967T>A (p.Leu656Gln) n.2336T>A | dbSNP |
| 13 | g.32336691T>C | CA387771555 | BRCA2 | c.2336T>C (p.Leu779Pro) c.1967T>C (p.Leu656Pro) n.2336T>C | |
| 13 | g.32336691T>G | CA387771558 | BRCA2 | c.2336T>G (p.Leu779Arg) c.1967T>G (p.Leu656Arg) n.2336T>G | gnomAD v4 |
| 13 | g.32336692G>A | CA483437175 | BRCA2 | c.2337G>A (p.Leu779=) c.1968G>A (p.Leu656=) n.2337G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32336692G>C | CA483437174 | BRCA2 | c.2337G>C (p.Leu779=) c.1968G>C (p.Leu656=) n.2337G>C | ClinVar dbSNP |
| 13 | g.32336692G= | CA2082751569 | BRCA2 | c.2337G= (p.Leu779=) c.1968G= (p.Leu656=) n.2337G= | |
| 13 | g.32336692G>T | CA014991 | BRCA2 | c.2337G>T (p.Leu779=) c.1968G>T (p.Leu656=) n.2337G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336693T>A | CA387771570 | BRCA2 | c.2338T>A (p.Ser780Thr) c.1969T>A (p.Ser657Thr) n.2338T>A | dbSNP |
| 13 | g.32336693T>C | CA387771567 | BRCA2 | c.2338T>C (p.Ser780Pro) c.1969T>C (p.Ser657Pro) n.2338T>C | dbSNP |
| 13 | g.32336693T>G | CA387771565 | BRCA2 | c.2338T>G (p.Ser780Ala) c.1969T>G (p.Ser657Ala) n.2338T>G | dbSNP |
| 13 | g.32336694C>A | CA387771573 | BRCA2 | c.2339C>A (p.Ser780Ter) c.1970C>A (p.Ser657Ter) n.2339C>A | dbSNP |
| 13 | g.32336694C= | CA2082751579 | BRCA2 | c.2339C= (p.Ser780=) c.1970C= (p.Ser657=) n.2339C= | |
| 13 | g.32336694C>G | CA014999 | BRCA2 | c.2339C>G (p.Ser780Ter) c.1970C>G (p.Ser657Ter) n.2339C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32336694C>T | CA387771576 | BRCA2 | c.2339C>T (p.Ser780Leu) c.1970C>T (p.Ser657Leu) n.2339C>T | dbSNP |
| 13 | g.32336694_32336707del | CA2573149376 | BRCA2 | c.2339_2352del (p.Ser780TyrfsTer3) c.1970_1983del (p.Ser657TyrfsTer3) n.2339_2352del | ClinVar dbSNP |
| 13 | g.32336695A>C | CA483437176 | BRCA2 | c.2340A>C (p.Ser780=) c.1971A>C (p.Ser657=) n.2340A>C | |
| 13 | g.32336695A>G | CA483437178 | BRCA2 | c.2340A>G (p.Ser780=) c.1971A>G (p.Ser657=) n.2340A>G | dbSNP |
| 13 | g.32336695A>T | CA483437179 | BRCA2 | c.2340A>T (p.Ser780=) c.1971A>T (p.Ser657=) n.2340A>T | dbSNP |
| 13 | g.32336696A= | CA2082751587 | BRCA2 | c.2341A= (p.Asn781=) c.1972A= (p.Asn658=) n.2341A= | |
| 13 | g.32336696A>C | CA015005 | BRCA2 | c.2341A>C (p.Asn781His) c.1972A>C (p.Asn658His) n.2341A>C | ClinVar dbSNP |
| 13 | g.32336696A>G | CA387771581 | BRCA2 | c.2341A>G (p.Asn781Asp) c.1972A>G (p.Asn658Asp) n.2341A>G | ClinVar dbSNP |
| 13 | g.32336696A>T | CA387771584 | BRCA2 | c.2341A>T (p.Asn781Tyr) c.1972A>T (p.Asn658Tyr) n.2341A>T | dbSNP |
| 13 | g.32336697A>C | CA387771597 | BRCA2 | c.2342A>C (p.Asn781Thr) c.1973A>C (p.Asn658Thr) n.2342A>C | dbSNP |
| 13 | g.32336697A>G | CA387771591 | BRCA2 | c.2342A>G (p.Asn781Ser) c.1973A>G (p.Asn658Ser) n.2342A>G | |
| 13 | g.32336697A>T | CA387771594 | BRCA2 | c.2342A>T (p.Asn781Ile) c.1973A>T (p.Asn658Ile) n.2342A>T | dbSNP |
| 13 | g.32336698C>A | CA10579534 | BRCA2 | c.2343C>A (p.Asn781Lys) c.1974C>A (p.Asn658Lys) n.2343C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32336698C= | CA2082751604 | BRCA2 | c.2343C= (p.Asn781=) c.1974C= (p.Asn658=) n.2343C= | |
| 13 | g.32336698C>G | CA387771605 | BRCA2 | c.2343C>G (p.Asn781Lys) c.1974C>G (p.Asn658Lys) n.2343C>G | dbSNP |
| 13 | g.32336698C>T | CA483437184 | BRCA2 | c.2343C>T (p.Asn781=) c.1974C>T (p.Asn658=) n.2343C>T | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32336699C>A | CA387771609 | BRCA2 | c.2344C>A (p.Leu782Ile) c.1975C>A (p.Leu659Ile) n.2344C>A | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32336699C= | CA2082751618 | BRCA2 | c.2344C= (p.Leu782=) c.1975C= (p.Leu659=) n.2344C= | |
| 13 | g.32336699C>G | CA6940596 | BRCA2 | c.2344C>G (p.Leu782Val) c.1975C>G (p.Leu659Val) n.2344C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32336699C>T | CA483437185 | BRCA2 | c.2344C>T (p.Leu782=) c.1975C>T (p.Leu659=) n.2344C>T | ClinVar dbSNP |
| 13 | g.32336700del | CA2573149377 | BRCA2 | c.2345del (p.Leu782GlnfsTer3) c.1976del (p.Leu659GlnfsTer3) n.2345del | ClinVar dbSNP |
| 13 | g.32336700T>A | CA10577464 | BRCA2 | c.2345T>A (p.Leu782Gln) c.1976T>A (p.Leu659Gln) n.2345T>A | ClinVar dbSNP |
| 13 | g.32336700T>C | CA387771612 | BRCA2 | c.2345T>C (p.Leu782Pro) c.1976T>C (p.Leu659Pro) n.2345T>C | ClinVar |
| 13 | g.32336700T>G | CA387771613 | BRCA2 | c.2345T>G (p.Leu782Arg) c.1976T>G (p.Leu659Arg) n.2345T>G | ClinVar dbSNP |
| 13 | g.32336700T= | CA2082751635 | BRCA2 | c.2345T= (p.Leu782=) c.1976T= (p.Leu659=) n.2345T= | |
| 13 | g.32336701A= | CA2082751644 | BRCA2 | c.2346A= (p.Leu782=) c.1977A= (p.Leu659=) n.2346A= | |
| 13 | g.32336701A>C | CA483437186 | BRCA2 | c.2346A>C (p.Leu782=) c.1977A>C (p.Leu659=) n.2346A>C | |
| 13 | g.32336701A>G | CA483437188 | BRCA2 | c.2346A>G (p.Leu782=) c.1977A>G (p.Leu659=) n.2346A>G | ClinVar dbSNP |
| 13 | g.32336701A>T | CA483437189 | BRCA2 | c.2346A>T (p.Leu782=) c.1977A>T (p.Leu659=) n.2346A>T | dbSNP |
| 13 | g.32336702G>A | CA387771616 | BRCA2 | c.2347G>A (p.Val783Ile) c.1978G>A (p.Val660Ile) n.2347G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336702G>C | CA387771618 | BRCA2 | c.2347G>C (p.Val783Leu) c.1978G>C (p.Val660Leu) n.2347G>C | ClinVar dbSNP |
| 13 | g.32336702G= | CA2082751653 | BRCA2 | c.2347G= (p.Val783=) c.1978G= (p.Val660=) n.2347G= |