| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32356426_32356798del | CA2499222288 | BRCA2 | c.7436-2_7617+189del c.7067-2_7248+189del n.7436-2_7617+189del c.7340-2_7521+189del | ClinVar dbSNP |
| 13 | g.32356502_32356793del | CA2580087468 | BRCA2 | c.7510_7617+184del c.7141_7248+184del c.75_182+184del n.7510_7617+184del c.7414_7521+184del | ClinVar |
| 13 | g.32356520_32356523dup | CA2580087473 | BRCA2 | c.7528_7531dup (p.Tyr2511SerfsTer29) c.7159_7162dup (p.Tyr2388SerfsTer29) c.93_96dup n.7528_7531dup c.7432_7435dup (p.Tyr2479SerfsTer29) | ClinVar |
| 13 | g.32356520_32356521delinsAC | CA2573149393 | BRCA2 | c.7528_7529delinsAC (p.Leu2510Thr) c.7159_7160delinsAC (p.Leu2387Thr) c.93_94delinsAC n.7528_7529delinsAC c.7432_7433delinsAC (p.Leu2478Thr) | ClinVar dbSNP |
| 13 | g.32356520_32356522delinsCTG | CA2082814838 | BRCA2 | c.7528_7530delinsCTG (p.Leu2510=) c.7159_7161delinsCTG (p.Leu2387=) c.93_95delinsCTG n.7528_7530delinsCTG c.7432_7434delinsCTG (p.Leu2478=) | |
| 13 | g.32356521T>A | CA387743582 | BRCA2 | c.7529T>A (p.Leu2510Gln) c.7160T>A (p.Leu2387Gln) c.94T>A n.7529T>A c.7433T>A (p.Leu2478Gln) | dbSNP |
| 13 | g.32356521T>C | CA025134 | BRCA2 | c.7529T>C (p.Leu2510Pro) c.7160T>C (p.Leu2387Pro) c.94T>C n.7529T>C c.7433T>C (p.Leu2478Pro) | ClinVar dbSNP |
| 13 | g.32356521T>G | CA387743580 | BRCA2 | c.7529T>G (p.Leu2510Arg) c.7160T>G (p.Leu2387Arg) c.94T>G n.7529T>G c.7433T>G (p.Leu2478Arg) | ClinVar dbSNP |
| 13 | g.32356521T= | CA2082814862 | BRCA2 | c.7529T= (p.Leu2510=) c.7160T= (p.Leu2387=) c.94T= n.7529T= c.7433T= (p.Leu2478=) | |
| 13 | g.32356522_32356523del | CA10589436 | BRCA2 | c.7530_7531del (p.Tyr2511SerfsTer27) c.7161_7162del (p.Tyr2388SerfsTer27) c.95_96del n.7530_7531del c.7434_7435del (p.Tyr2479SerfsTer27) | ClinVar dbSNP |
| 13 | g.32356522G>A | CA16606816 | BRCA2 | c.7530G>A (p.Leu2510=) c.7161G>A (p.Leu2387=) c.95G>A n.7530G>A c.7434G>A (p.Leu2478=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356522G>C | CA483260395 | BRCA2 | c.7530G>C (p.Leu2510=) c.7161G>C (p.Leu2387=) c.95G>C n.7530G>C c.7434G>C (p.Leu2478=) | ClinVar dbSNP |
| 13 | g.32356522G= | CA2082814872 | BRCA2 | c.7530G= (p.Leu2510=) c.7161G= (p.Leu2387=) c.95G= n.7530G= c.7434G= (p.Leu2478=) | |
| 13 | g.32356522G>T | CA483260396 | BRCA2 | c.7530G>T (p.Leu2510=) c.7161G>T (p.Leu2387=) c.95G>T n.7530G>T c.7434G>T (p.Leu2478=) | |
| 13 | g.32356523T>A | CA387743584 | BRCA2 | c.7531T>A (p.Tyr2511Asn) c.7162T>A (p.Tyr2388Asn) c.96T>A n.7531T>A c.7435T>A (p.Tyr2479Asn) | ClinVar dbSNP |
| 13 | g.32356523T>C | CA387743586 | BRCA2 | c.7531T>C (p.Tyr2511His) c.7162T>C (p.Tyr2388His) c.96T>C n.7531T>C c.7435T>C (p.Tyr2479His) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356523T>G | CA387743588 | BRCA2 | c.7531T>G (p.Tyr2511Asp) c.7162T>G (p.Tyr2388Asp) c.96T>G n.7531T>G c.7435T>G (p.Tyr2479Asp) | dbSNP |
| 13 | g.32356523dup | CA2580087474 | BRCA2 | c.7531dup (p.Tyr2511LeufsTer28) c.7162dup (p.Tyr2388LeufsTer28) c.96dup n.7531dup c.7435dup (p.Tyr2479LeufsTer28) | ClinVar |
| 13 | g.32356524A= | CA2082814878 | BRCA2 | c.7532A= (p.Tyr2511=) c.7163A= (p.Tyr2388=) c.97A= n.7532A= c.7436A= (p.Tyr2479=) | |
| 13 | g.32356524A>C | CA387743591 | BRCA2 | c.7532A>C (p.Tyr2511Ser) c.7163A>C (p.Tyr2388Ser) c.97A>C n.7532A>C c.7436A>C (p.Tyr2479Ser) | dbSNP |
| 13 | g.32356524A>G | CA16619764 | BRCA2 | c.7532A>G (p.Tyr2511Cys) c.7163A>G (p.Tyr2388Cys) c.97A>G n.7532A>G c.7436A>G (p.Tyr2479Cys) | ClinVar dbSNP |
| 13 | g.32356524A>T | CA387743595 | BRCA2 | c.7532A>T (p.Tyr2511Phe) c.7163A>T (p.Tyr2388Phe) c.97A>T n.7532A>T c.7436A>T (p.Tyr2479Phe) | dbSNP |
| 13 | g.32356525T>A | CA387743596 | BRCA2 | c.7533T>A (p.Tyr2511Ter) c.7164T>A (p.Tyr2388Ter) c.98T>A n.7533T>A c.7437T>A (p.Tyr2479Ter) | |
| 13 | g.32356525T>C | CA483260397 | BRCA2 | c.7533T>C (p.Tyr2511=) c.7164T>C (p.Tyr2388=) c.98T>C n.7533T>C c.7437T>C (p.Tyr2479=) | |
| 13 | g.32356525T>G | CA387743598 | BRCA2 | c.7533T>G (p.Tyr2511Ter) c.7164T>G (p.Tyr2388Ter) c.98T>G n.7533T>G c.7437T>G (p.Tyr2479Ter) | |
| 13 | g.32356526del | CA2580087475 | BRCA2 | c.7534del (p.Ala2513GlnfsTer11) c.7165del (p.Ala2390GlnfsTer11) c.1del (p.Ala2GlnfsTer11) c.99del n.7534del c.7438del (p.Ala2481GlnfsTer11) | ClinVar dbSNP |
| 13 | g.32356526C>A | CA387743599 | BRCA2 | c.7534C>A (p.Leu2512Ile) c.7165C>A (p.Leu2389Ile) c.1C>A (p.Leu1Ile) c.99C>A n.7534C>A c.7438C>A (p.Leu2480Ile) | |
| 13 | g.32356526C= | CA2082814884 | BRCA2 | c.7534C= (p.Leu2512=) c.7165C= (p.Leu2389=) c.1C= (p.Leu1=) c.99C= n.7534C= c.7438C= (p.Leu2480=) | |
| 13 | g.32356526C>G | CA387743601 | BRCA2 | c.7534C>G (p.Leu2512Val) c.7165C>G (p.Leu2389Val) c.1C>G (p.Leu1Val) c.99C>G n.7534C>G c.7438C>G (p.Leu2480Val) | dbSNP |
| 13 | g.32356526C>T | CA025136 | BRCA2 | c.7534C>T (p.Leu2512Phe) c.7165C>T (p.Leu2389Phe) c.1C>T (p.Leu1Phe) c.99C>T n.7534C>T c.7438C>T (p.Leu2480Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32356527T>A | CA387743605 | BRCA2 | c.7535T>A (p.Leu2512His) c.7166T>A (p.Leu2389His) c.2T>A (p.Leu1His) c.100T>A n.7535T>A c.7439T>A (p.Leu2480His) | dbSNP |
| 13 | g.32356527T>C | CA387743607 | BRCA2 | c.7535T>C (p.Leu2512Pro) c.7166T>C (p.Leu2389Pro) c.2T>C (p.Leu1Pro) c.100T>C n.7535T>C c.7439T>C (p.Leu2480Pro) | ClinVar dbSNP |
| 13 | g.32356527T>G | CA387743610 | BRCA2 | c.7535T>G (p.Leu2512Arg) c.7166T>G (p.Leu2389Arg) c.2T>G (p.Leu1Arg) c.100T>G n.7535T>G c.7439T>G (p.Leu2480Arg) | |
| 13 | g.32356527T= | CA2082814894 | BRCA2 | c.7535T= (p.Leu2512=) c.7166T= (p.Leu2389=) c.2T= (p.Leu1=) c.100T= n.7535T= c.7439T= (p.Leu2480=) | |
| 13 | g.32356528T>A | CA483260398 | BRCA2 | c.7536T>A (p.Leu2512=) c.7167T>A (p.Leu2389=) c.3T>A (p.Leu1=) c.101T>A n.7536T>A c.7440T>A (p.Leu2480=) | dbSNP |
| 13 | g.32356528T>C | CA483260399 | BRCA2 | c.7536T>C (p.Leu2512=) c.7167T>C (p.Leu2389=) c.3T>C (p.Leu1=) c.101T>C n.7536T>C c.7440T>C (p.Leu2480=) | ClinVar dbSNP |
| 13 | g.32356528T>G | CA483260400 | BRCA2 | c.7536T>G (p.Leu2512=) c.7167T>G (p.Leu2389=) c.3T>G (p.Leu1=) c.101T>G n.7536T>G c.7440T>G (p.Leu2480=) | ClinVar |
| 13 | g.32356528T= | CA2082814904 | BRCA2 | c.7536T= (p.Leu2512=) c.7167T= (p.Leu2389=) c.3T= (p.Leu1=) c.101T= n.7536T= c.7440T= (p.Leu2480=) | |
| 13 | g.32356529G>A | CA387743615 | BRCA2 | c.7537G>A (p.Ala2513Thr) c.7168G>A (p.Ala2390Thr) c.4G>A (p.Ala2Thr) c.102G>A n.7537G>A c.7441G>A (p.Ala2481Thr) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32356529G>C | CA387743613 | BRCA2 | c.7537G>C (p.Ala2513Pro) c.7168G>C (p.Ala2390Pro) c.4G>C (p.Ala2Pro) c.102G>C n.7537G>C c.7441G>C (p.Ala2481Pro) | dbSNP gnomAD v4 |
| 13 | g.32356529G= | CA2082814916 | BRCA2 | c.7537G= (p.Ala2513=) c.7168G= (p.Ala2390=) c.4G= (p.Ala2=) c.102G= n.7537G= c.7441G= (p.Ala2481=) | |
| 13 | g.32356529G>T | CA387743612 | BRCA2 | c.7537G>T (p.Ala2513Ser) c.7168G>T (p.Ala2390Ser) c.4G>T (p.Ala2Ser) c.102G>T n.7537G>T c.7441G>T (p.Ala2481Ser) | |
| 13 | g.32356529_32356530delinsGC | CA2082814921 | BRCA2 | c.7537_7538delinsGC (p.Ala2513=) c.7168_7169delinsGC (p.Ala2390=) c.4_5delinsGC (p.Ala2=) c.102_103delinsGC n.7537_7538delinsGC c.7441_7442delinsGC (p.Ala2481=) | |
| 13 | g.32356529_32356539delinsGCAAAAACATC | CA2082814910 | BRCA2 | c.7537_7547delinsGCAAAAACATC (p.Ala2513=) c.7168_7178delinsGCAAAAACATC (p.Ala2390=) c.4_14delinsGCAAAAACATC (p.Ala2=) c.102_112delinsGCAAAAACATC n.7537_7547delinsGCAAAAACATC c.7441_7451delinsGCAAAAACATC (p.Ala2481=) | |
| 13 | g.32356529_32356545delinsGCAAAAACATCCACTCT | CA2082814908 | BRCA2 | c.7537_7553delinsGCAAAAACATCCACTCT (p.Ala2513=) c.7168_7184delinsGCAAAAACATCCACTCT (p.Ala2390=) c.4_20delinsGCAAAAACATCCACTCT (p.Ala2=) c.102_118delinsGCAAAAACATCCACTCT n.7537_7553delinsGCAAAAACATCCACTCT c.7441_7457delinsGCAAAAACATCCACTCT (p.Ala2481=) | |
| 13 | g.32356530del | CA025137 | BRCA2 | c.7538del (p.Ala2513GlufsTer11) c.7169del (p.Ala2390GlufsTer11) c.5del (p.Ala2GlufsTer11) c.103del n.7538del c.7442del (p.Ala2481GlufsTer11) | ClinVar dbSNP |
| 13 | g.32356530C>A | CA16614004 | BRCA2 | c.7538C>A (p.Ala2513Glu) c.7169C>A (p.Ala2390Glu) c.5C>A (p.Ala2Glu) c.103C>A n.7538C>A c.7442C>A (p.Ala2481Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32356530C= | CA2082814933 | BRCA2 | c.7538C= (p.Ala2513=) c.7169C= (p.Ala2390=) c.5C= (p.Ala2=) c.103C= n.7538C= c.7442C= (p.Ala2481=) | |
| 13 | g.32356530C>G | CA387743618 | BRCA2 | c.7538C>G (p.Ala2513Gly) c.7169C>G (p.Ala2390Gly) c.5C>G (p.Ala2Gly) c.103C>G n.7538C>G c.7442C>G (p.Ala2481Gly) | |
| 13 | g.32356530C>T | CA387743619 | BRCA2 | c.7538C>T (p.Ala2513Val) c.7169C>T (p.Ala2390Val) c.5C>T (p.Ala2Val) c.103C>T n.7538C>T c.7442C>T (p.Ala2481Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |