Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32337940G>A | CA483437636 | BRCA2 | c.3585G>A (p.Leu1195=) c.3216G>A (p.Leu1072=) n.3585G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337940G>C | CA483437637 | BRCA2 | c.3585G>C (p.Leu1195=) c.3216G>C (p.Leu1072=) n.3585G>C | dbSNP gnomAD v4 |
13 | g.32337940G>T | CA483437638 | BRCA2 | c.3585G>T (p.Leu1195=) c.3216G>T (p.Leu1072=) n.3585G>T | ClinVar |
13 | g.32337941T>A | CA387777406 | BRCA2 | c.3586T>A (p.Leu1196Met) c.3217T>A (p.Leu1073Met) n.3586T>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337941T>C | CA483437640 | BRCA2 | c.3586T>C (p.Leu1196=) c.3217T>C (p.Leu1073=) n.3586T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32337941T>G | CA387777408 | BRCA2 | c.3586T>G (p.Leu1196Val) c.3217T>G (p.Leu1073Val) n.3586T>G | dbSNP |
13 | g.32337941T= | CA2082818573 | BRCA2 | c.3586T= (p.Leu1196=) c.3217T= (p.Leu1073=) n.3586T= | |
13 | g.32337942T>A | CA387777410 | BRCA2 | c.3587T>A (p.Leu1196Ter) c.3218T>A (p.Leu1073Ter) n.3587T>A | dbSNP |
13 | g.32337942T>C | CA387777412 | BRCA2 | c.3587T>C (p.Leu1196Ser) c.3218T>C (p.Leu1073Ser) n.3587T>C | |
13 | g.32337942T>G | CA387777415 | BRCA2 | c.3587T>G (p.Leu1196Trp) c.3218T>G (p.Leu1073Trp) n.3587T>G | |
13 | g.32337943G>A | CA6940705 | BRCA2 | c.3588G>A (p.Leu1196=) c.3219G>A (p.Leu1073=) n.3588G>A | ClinVar dbSNP ExAC gnomAD v2 |
13 | g.32337943G>C | CA387777417 | BRCA2 | c.3588G>C (p.Leu1196Phe) c.3219G>C (p.Leu1073Phe) n.3588G>C | |
13 | g.32337943G= | CA2082818588 | BRCA2 | c.3588G= (p.Leu1196=) c.3219G= (p.Leu1073=) n.3588G= | |
13 | g.32337943G>T | CA387777419 | BRCA2 | c.3588G>T (p.Leu1196Phe) c.3219G>T (p.Leu1073Phe) n.3588G>T | |
13 | g.32337943_32337944delinsGA | CA2082818581 | BRCA2 | c.3588_3589delinsGA (p.Leu1196=) c.3219_3220delinsGA (p.Leu1073=) n.3588_3589delinsGA | |
13 | g.32337944A= | CA2082818601 | BRCA2 | c.3589A= (p.Lys1197=) c.3220A= (p.Lys1074=) n.3589A= | |
13 | g.32337944A>C | CA387777422 | BRCA2 | c.3589A>C (p.Lys1197Gln) c.3220A>C (p.Lys1074Gln) n.3589A>C | dbSNP |
13 | g.32337944A>G | CA387777425 | BRCA2 | c.3589A>G (p.Lys1197Glu) c.3220A>G (p.Lys1074Glu) n.3589A>G | ClinVar dbSNP |
13 | g.32337944A>T | CA387777426 | BRCA2 | c.3589A>T (p.Lys1197Ter) c.3220A>T (p.Lys1074Ter) n.3589A>T | dbSNP |
13 | g.32337948dup | CA280072 | BRCA2 | c.3593dup (p.Asn1198LysfsTer2) c.3224dup (p.Asn1075LysfsTer2) n.3593dup | ClinVar dbSNP |
13 | g.32337948del | CA018383 | BRCA2 | c.3593del (p.Asn1198MetfsTer11) c.3224del (p.Asn1075MetfsTer11) n.3593del | ClinVar dbSNP |
13 | g.32337945A>C | CA387777430 | BRCA2 | c.3590A>C (p.Lys1197Thr) c.3221A>C (p.Lys1074Thr) n.3590A>C | |
13 | g.32337945A>G | CA387777432 | BRCA2 | c.3590A>G (p.Lys1197Arg) c.3221A>G (p.Lys1074Arg) n.3590A>G | gnomAD v4 |
13 | g.32337945A>T | CA387777433 | BRCA2 | c.3590A>T (p.Lys1197Ile) c.3221A>T (p.Lys1074Ile) n.3590A>T | dbSNP |
13 | g.32337946A>C | CA387777436 | BRCA2 | c.3591A>C (p.Lys1197Asn) c.3222A>C (p.Lys1074Asn) n.3591A>C | gnomAD v4 |
13 | g.32337946A>G | CA483437645 | BRCA2 | c.3591A>G (p.Lys1197=) c.3222A>G (p.Lys1074=) n.3591A>G | |
13 | g.32337946A>T | CA387777439 | BRCA2 | c.3591A>T (p.Lys1197Asn) c.3222A>T (p.Lys1074Asn) n.3591A>T | dbSNP |
13 | g.32337947A>C | CA387777442 | BRCA2 | c.3592A>C (p.Asn1198His) c.3223A>C (p.Asn1075His) n.3592A>C | |
13 | g.32337947A>G | CA387777443 | BRCA2 | c.3592A>G (p.Asn1198Asp) c.3223A>G (p.Asn1075Asp) n.3592A>G | ClinVar dbSNP |
13 | g.32337947A>T | CA387777445 | BRCA2 | c.3592A>T (p.Asn1198Tyr) c.3223A>T (p.Asn1075Tyr) n.3592A>T | |
13 | g.32337948A= | CA2082818607 | BRCA2 | c.3593A= (p.Asn1198=) c.3224A= (p.Asn1075=) n.3593A= | |
13 | g.32337948A>C | CA387777448 | BRCA2 | c.3593A>C (p.Asn1198Thr) c.3224A>C (p.Asn1075Thr) n.3593A>C | ClinVar dbSNP |
13 | g.32337948A>G | CA6940706 | BRCA2 | c.3593A>G (p.Asn1198Ser) c.3224A>G (p.Asn1075Ser) n.3593A>G | ClinVar dbSNP ExAC |
13 | g.32337948A>T | CA387777451 | BRCA2 | c.3593A>T (p.Asn1198Ile) c.3224A>T (p.Asn1075Ile) n.3593A>T | dbSNP |
13 | g.32337948_32337952delinsATGAC | CA2082818614 | BRCA2 | c.3593_3597delinsATGAC (p.Asn1198=) c.3224_3228delinsATGAC (p.Asn1075=) n.3593_3597delinsATGAC | |
13 | g.32337949T>A | CA387777454 | BRCA2 | c.3594T>A (p.Asn1198Lys) c.3225T>A (p.Asn1075Lys) n.3594T>A | dbSNP |
13 | g.32337949T>C | CA483437647 | BRCA2 | c.3594T>C (p.Asn1198=) c.3225T>C (p.Asn1075=) n.3594T>C | dbSNP |
13 | g.32337949T>G | CA387777455 | BRCA2 | c.3594T>G (p.Asn1198Lys) c.3225T>G (p.Asn1075Lys) n.3594T>G | ClinVar |
13 | g.32337951_32337954del | CA10589212 | BRCA2 | c.3596_3599del (p.Asp1199ValfsTer9) c.3227_3230del (p.Asp1076ValfsTer9) n.3596_3599del | ClinVar dbSNP |
13 | g.32337950G>A | CA16614292 | BRCA2 | c.3595G>A (p.Asp1199Asn) c.3226G>A (p.Asp1076Asn) n.3595G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337950G>C | CA387777461 | BRCA2 | c.3595G>C (p.Asp1199His) c.3226G>C (p.Asp1076His) n.3595G>C | dbSNP |
13 | g.32337950G= | CA2082818631 | BRCA2 | c.3595G= (p.Asp1199=) c.3226G= (p.Asp1076=) n.3595G= | |
13 | g.32337950G>T | CA387777459 | BRCA2 | c.3595G>T (p.Asp1199Tyr) c.3226G>T (p.Asp1076Tyr) n.3595G>T | ClinVar dbSNP |
13 | g.32337951A>C | CA387777466 | BRCA2 | c.3596A>C (p.Asp1199Ala) c.3227A>C (p.Asp1076Ala) n.3596A>C | |
13 | g.32337951A>G | CA387777467 | BRCA2 | c.3596A>G (p.Asp1199Gly) c.3227A>G (p.Asp1076Gly) n.3596A>G | ClinVar dbSNP COSMIC COSMIC |
13 | g.32337951A>T | CA387777470 | BRCA2 | c.3596A>T (p.Asp1199Val) c.3227A>T (p.Asp1076Val) n.3596A>T | dbSNP |
13 | g.32337952C>A | CA387777472 | BRCA2 | c.3597C>A (p.Asp1199Glu) c.3228C>A (p.Asp1076Glu) n.3597C>A | |
13 | g.32337952C= | CA2082818646 | BRCA2 | c.3597C= (p.Asp1199=) c.3228C= (p.Asp1076=) n.3597C= | |
13 | g.32337952C>G | CA387777476 | BRCA2 | c.3597C>G (p.Asp1199Glu) c.3228C>G (p.Asp1076Glu) n.3597C>G | ClinVar dbSNP |
13 | g.32337952C>T | CA247505390 | BRCA2 | c.3597C>T (p.Asp1199=) c.3228C>T (p.Asp1076=) n.3597C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |