| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32357791dup | CA10581592 | BRCA2 | c.7667dup (p.Asn2556LysfsTer10) c.7298dup (p.Asn2433LysfsTer10) c.134dup (p.Asn45LysfsTer10) c.232dup n.7667dup c.7571dup (p.Asn2524LysfsTer10) | ClinVar dbSNP |
| 13 | g.32357790_32357791dup | CA10589445 | BRCA2 | c.7666_7667dup (p.Asn2556LysfsTer?) c.7297_7298dup (p.Asn2433LysfsTer?) c.133_134dup (p.Asn45LysfsTer?) c.231_232dup n.7666_7667dup c.7570_7571dup (p.Asn2524LysfsTer?) | ClinVar dbSNP |
| 13 | g.32357791del | CA1139663201 | BRCA2 | c.7667del (p.Asn2556MetfsTer?) c.7298del (p.Asn2433MetfsTer?) c.134del (p.Asn45MetfsTer?) c.232del n.7667del c.7571del (p.Asn2524MetfsTer?) | ClinVar dbSNP |
| 13 | g.32357788A= | CA2082817978 | BRCA2 | c.7664A= (p.Lys2555=) c.7295A= (p.Lys2432=) c.131A= (p.Lys44=) c.229A= n.7664A= c.7568A= (p.Lys2523=) | |
| 13 | g.32357788A>C | CA387745007 | BRCA2 | c.7664A>C (p.Lys2555Thr) c.7295A>C (p.Lys2432Thr) c.131A>C (p.Lys44Thr) c.229A>C n.7664A>C c.7568A>C (p.Lys2523Thr) | |
| 13 | g.32357788A>G | CA387745008 | BRCA2 | c.7664A>G (p.Lys2555Arg) c.7295A>G (p.Lys2432Arg) c.131A>G (p.Lys44Arg) c.229A>G n.7664A>G c.7568A>G (p.Lys2523Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32357788A>T | CA387745009 | BRCA2 | c.7664A>T (p.Lys2555Ile) c.7295A>T (p.Lys2432Ile) c.131A>T (p.Lys44Ile) c.229A>T n.7664A>T c.7568A>T (p.Lys2523Ile) | dbSNP |
| 13 | g.32357789A= | CA2082817990 | BRCA2 | c.7665A= (p.Lys2555=) c.7296A= (p.Lys2432=) c.132A= (p.Lys44=) c.230A= n.7665A= c.7569A= (p.Lys2523=) | |
| 13 | g.32357789A>C | CA387745010 | BRCA2 | c.7665A>C (p.Lys2555Asn) c.7296A>C (p.Lys2432Asn) c.132A>C (p.Lys44Asn) c.230A>C n.7665A>C c.7569A>C (p.Lys2523Asn) | |
| 13 | g.32357789A>G | CA16606439 | BRCA2 | c.7665A>G (p.Lys2555=) c.7296A>G (p.Lys2432=) c.132A>G (p.Lys44=) c.230A>G n.7665A>G c.7569A>G (p.Lys2523=) | ClinVar dbSNP |
| 13 | g.32357789A>T | CA387745011 | BRCA2 | c.7665A>T (p.Lys2555Asn) c.7296A>T (p.Lys2432Asn) c.132A>T (p.Lys44Asn) c.230A>T n.7665A>T c.7569A>T (p.Lys2523Asn) | |
| 13 | g.32357790A>C | CA387745013 | BRCA2 | c.7666A>C (p.Asn2556His) c.7297A>C (p.Asn2433His) c.133A>C (p.Asn45His) c.231A>C n.7666A>C c.7570A>C (p.Asn2524His) | |
| 13 | g.32357790A>G | CA387745016 | BRCA2 | c.7666A>G (p.Asn2556Asp) c.7297A>G (p.Asn2433Asp) c.133A>G (p.Asn45Asp) c.231A>G n.7666A>G c.7570A>G (p.Asn2524Asp) | |
| 13 | g.32357790A>T | CA387745023 | BRCA2 | c.7666A>T (p.Asn2556Tyr) c.7297A>T (p.Asn2433Tyr) c.133A>T (p.Asn45Tyr) c.231A>T n.7666A>T c.7570A>T (p.Asn2524Tyr) | dbSNP |
| 13 | g.32357791A>C | CA387745025 | BRCA2 | c.7667A>C (p.Asn2556Thr) c.7298A>C (p.Asn2433Thr) c.134A>C (p.Asn45Thr) c.232A>C n.7667A>C c.7571A>C (p.Asn2524Thr) | gnomAD v4 |
| 13 | g.32357791A>G | CA387745027 | BRCA2 | c.7667A>G (p.Asn2556Ser) c.7298A>G (p.Asn2433Ser) c.134A>G (p.Asn45Ser) c.232A>G n.7667A>G c.7571A>G (p.Asn2524Ser) | |
| 13 | g.32357791A>T | CA387745028 | BRCA2 | c.7667A>T (p.Asn2556Ile) c.7298A>T (p.Asn2433Ile) c.134A>T (p.Asn45Ile) c.232A>T n.7667A>T c.7571A>T (p.Asn2524Ile) | dbSNP gnomAD v4 |
| 13 | g.32357791_32357792insAGAAAAACAATTTAAAGTAAACA | CA2517010024 | BRCA2 | c.7667_7668insAGAAAAACAATTTAAAGTAAACA (p.Asn2556LysfsTer?) c.7298_7299insAGAAAAACAATTTAAAGTAAACA (p.Asn2433LysfsTer?) c.134_135insAGAAAAACAATTTAAAGTAAACA (p.Asn45LysfsTer?) c.232_233insAGAAAAACAATTTAAAGTAAACA n.7667_7668insAGAAAAACAATTTAAAGTAAACA c.7571_7572insAGAAAAACAATTTAAAGTAAACA (p.Asn2524LysfsTer?) | |
| 13 | g.32357792T>A | CA387745029 | BRCA2 | c.7668T>A (p.Asn2556Lys) c.7299T>A (p.Asn2433Lys) c.135T>A (p.Asn45Lys) c.233T>A n.7668T>A c.7572T>A (p.Asn2524Lys) | dbSNP |
| 13 | g.32357792T>C | CA483439162 | BRCA2 | c.7668T>C (p.Asn2556=) c.7299T>C (p.Asn2433=) c.135T>C (p.Asn45=) c.233T>C n.7668T>C c.7572T>C (p.Asn2524=) | |
| 13 | g.32357792T>G | CA387745036 | BRCA2 | c.7668T>G (p.Asn2556Lys) c.7299T>G (p.Asn2433Lys) c.135T>G (p.Asn45Lys) c.233T>G n.7668T>G c.7572T>G (p.Asn2524Lys) | |
| 13 | g.32357792T= | CA2082817992 | BRCA2 | c.7668T= (p.Asn2556=) c.7299T= (p.Asn2433=) c.135T= (p.Asn45=) c.233T= n.7668T= c.7572T= (p.Asn2524=) | |
| 13 | g.32357792_32357793insA | CA10589446 | BRCA2 | c.7668_7669insA (p.Ala2557SerfsTer9) c.7299_7300insA (p.Ala2434SerfsTer9) c.135_136insA (p.Ala46SerfsTer9) c.233_234insA n.7668_7669insA c.7572_7573insA (p.Ala2525SerfsTer9) | ClinVar dbSNP |
| 13 | g.32357793G>A | CA10579747 | BRCA2 | c.7669G>A (p.Ala2557Thr) c.7300G>A (p.Ala2434Thr) c.136G>A (p.Ala46Thr) c.234G>A n.7669G>A c.7573G>A (p.Ala2525Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32357793G>C | CA387745041 | BRCA2 | c.7669G>C (p.Ala2557Pro) c.7300G>C (p.Ala2434Pro) c.136G>C (p.Ala46Pro) c.234G>C n.7669G>C c.7573G>C (p.Ala2525Pro) | dbSNP |
| 13 | g.32357793G= | CA2082818001 | BRCA2 | c.7669G= (p.Ala2557=) c.7300G= (p.Ala2434=) c.136G= (p.Ala46=) c.234G= n.7669G= c.7573G= (p.Ala2525=) | |
| 13 | g.32357793G>T | CA387745044 | BRCA2 | c.7669G>T (p.Ala2557Ser) c.7300G>T (p.Ala2434Ser) c.136G>T (p.Ala46Ser) c.234G>T n.7669G>T c.7573G>T (p.Ala2525Ser) | |
| 13 | g.32357793_32357794insTATCACACAATAAAAACAATTATAACAAA | CA2501501461 | BRCA2 | c.7669_7670insTATCACACAATAAAAACAATTATAACAAA (p.Ala2557ValfsTer?) c.7300_7301insTATCACACAATAAAAACAATTATAACAAA (p.Ala2434ValfsTer?) c.136_137insTATCACACAATAAAAACAATTATAACAAA (p.Ala46ValfsTer?) c.234_235insTATCACACAATAAAAACAATTATAACAAA n.7669_7670insTATCACACAATAAAAACAATTATAACAAA c.7573_7574insTATCACACAATAAAAACAATTATAACAAA (p.Ala2525ValfsTer?) | |
| 13 | g.32357794C>A | CA387745046 | BRCA2 | c.7670C>A (p.Ala2557Glu) c.7301C>A (p.Ala2434Glu) c.137C>A (p.Ala46Glu) c.235C>A n.7670C>A c.7574C>A (p.Ala2525Glu) | ClinVar |
| 13 | g.32357794C= | CA2082818022 | BRCA2 | c.7670C= (p.Ala2557=) c.7301C= (p.Ala2434=) c.137C= (p.Ala46=) c.235C= n.7670C= c.7574C= (p.Ala2525=) | |
| 13 | g.32357794C>G | CA387745047 | BRCA2 | c.7670C>G (p.Ala2557Gly) c.7301C>G (p.Ala2434Gly) c.137C>G (p.Ala46Gly) c.235C>G n.7670C>G c.7574C>G (p.Ala2525Gly) | dbSNP |
| 13 | g.32357794C>T | CA6941128 | BRCA2 | c.7670C>T (p.Ala2557Val) c.7301C>T (p.Ala2434Val) c.137C>T (p.Ala46Val) c.235C>T n.7670C>T c.7574C>T (p.Ala2525Val) | ClinVar dbSNP ExAC gnomAD v2 COSMIC COSMIC |
| 13 | g.32357794_32357795delinsCA | CA2082818011 | BRCA2 | c.7670_7671delinsCA (p.Ala2557=) c.7301_7302delinsCA (p.Ala2434=) c.137_138delinsCA (p.Ala46=) c.235_236delinsCA n.7670_7671delinsCA c.7574_7575delinsCA (p.Ala2525=) | |
| 13 | g.32357794_32357796delinsCAG | CA2082818010 | BRCA2 | c.7670_7672delinsCAG (p.Ala2557=) c.7301_7303delinsCAG (p.Ala2434=) c.137_139delinsCAG (p.Ala46=) c.235_237delinsCAG n.7670_7672delinsCAG c.7574_7576delinsCAG (p.Ala2525=) | |
| 13 | g.32357795del | CA025216 | BRCA2 | c.7671del (p.Glu2558SerfsTer?) c.7302del (p.Glu2435SerfsTer?) c.138del (p.Glu47SerfsTer?) c.236del n.7671del c.7575del (p.Glu2526SerfsTer?) | ClinVar dbSNP |
| 13 | g.32357795A= | CA2082818045 | BRCA2 | c.7671A= (p.Ala2557=) c.7302A= (p.Ala2434=) c.138A= (p.Ala46=) c.236A= n.7671A= c.7575A= (p.Ala2525=) | |
| 13 | g.32357795A>C | CA483439166 | BRCA2 | c.7671A>C (p.Ala2557=) c.7302A>C (p.Ala2434=) c.138A>C (p.Ala46=) c.236A>C n.7671A>C c.7575A>C (p.Ala2525=) | ClinVar |
| 13 | g.32357795A>G | CA16607482 | BRCA2 | c.7671A>G (p.Ala2557=) c.7302A>G (p.Ala2434=) c.138A>G (p.Ala46=) c.236A>G n.7671A>G c.7575A>G (p.Ala2525=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32357795A>T | CA483439165 | BRCA2 | c.7671A>T (p.Ala2557=) c.7302A>T (p.Ala2434=) c.138A>T (p.Ala46=) c.236A>T n.7671A>T c.7575A>T (p.Ala2525=) | dbSNP |
| 13 | g.32357797_32357798dup | CA6941129 | BRCA2 | c.7673_7674dup (p.Phe2560LeufsTer?) c.7304_7305dup (p.Phe2437LeufsTer?) c.140_141dup (p.Phe49LeufsTer?) c.238_239dup n.7673_7674dup c.7577_7578dup (p.Phe2528LeufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32357797_32357798del | CA025217 | BRCA2 | c.7673_7674del (p.Glu2558ValfsTer7) c.7304_7305del (p.Glu2435ValfsTer7) c.140_141del (p.Glu47ValfsTer7) c.238_239del n.7673_7674del c.7577_7578del (p.Glu2526ValfsTer7) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32357796G>A | CA387745055 | BRCA2 | c.7672G>A (p.Glu2558Lys) c.7303G>A (p.Glu2435Lys) c.139G>A (p.Glu47Lys) c.237G>A n.7672G>A c.7576G>A (p.Glu2526Lys) | ClinVar |
| 13 | g.32357796G>C | CA10575928 | BRCA2 | c.7672G>C (p.Glu2558Gln) c.7303G>C (p.Glu2435Gln) c.139G>C (p.Glu47Gln) c.237G>C n.7672G>C c.7576G>C (p.Glu2526Gln) | ClinVar dbSNP |
| 13 | g.32357796G= | CA2082818059 | BRCA2 | c.7672G= (p.Glu2558=) c.7303G= (p.Glu2435=) c.139G= (p.Glu47=) c.237G= n.7672G= c.7576G= (p.Glu2526=) | |
| 13 | g.32357796G>T | CA387745058 | BRCA2 | c.7672G>T (p.Glu2558Ter) c.7303G>T (p.Glu2435Ter) c.139G>T (p.Glu47Ter) c.237G>T n.7672G>T c.7576G>T (p.Glu2526Ter) | |
| 13 | g.32357796_32357797delinsGA | CA2082818056 | BRCA2 | c.7672_7673delinsGA (p.Glu2558=) c.7303_7304delinsGA (p.Glu2435=) c.139_140delinsGA (p.Glu47=) c.237_238delinsGA n.7672_7673delinsGA c.7576_7577delinsGA (p.Glu2526=) | |
| 13 | g.32357797del | CA10583134 | BRCA2 | c.7673del (p.Glu2558GlyfsTer?) c.7304del (p.Glu2435GlyfsTer?) c.140del (p.Glu47GlyfsTer?) c.238del n.7673del c.7577del (p.Glu2526GlyfsTer?) | ClinVar dbSNP |
| 13 | g.32357797A= | CA2082818074 | BRCA2 | c.7673A= (p.Glu2558=) c.7304A= (p.Glu2435=) c.140A= (p.Glu47=) c.238A= n.7673A= c.7577A= (p.Glu2526=) | |
| 13 | g.32357797A>C | CA387745072 | BRCA2 | c.7673A>C (p.Glu2558Ala) c.7304A>C (p.Glu2435Ala) c.140A>C (p.Glu47Ala) c.238A>C n.7673A>C c.7577A>C (p.Glu2526Ala) | dbSNP |
| 13 | g.32357797A>G | CA387745064 | BRCA2 | c.7673A>G (p.Glu2558Gly) c.7304A>G (p.Glu2435Gly) c.140A>G (p.Glu47Gly) c.238A>G n.7673A>G c.7577A>G (p.Glu2526Gly) |