| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32340398_32341353del | CA2582073544 | BRCA2 | c.6043_6841+157del c.5674_6472+157del n.6043_6841+157del | |
| 13 | g.32340981_32340982dup | CA024224 | BRCA2 | c.6626_6627dup (p.Glu2210Ter) c.6257_6258dup (p.Glu2087Ter) n.6626_6627dup | ClinVar dbSNP |
| 13 | g.32340981_32340982del | CA024219 | BRCA2 | c.6626_6627del (p.Ile2209ArgfsTer15) c.6257_6258del (p.Ile2086ArgfsTer15) n.6626_6627del | ClinVar dbSNP |
| 13 | g.32340980_32340981delinsAT | CA2082816467 | BRCA2 | c.6625_6626delinsAT (p.Ile2209=) c.6256_6257delinsAT (p.Ile2086=) n.6625_6626delinsAT | |
| 13 | g.32340980_32340981delinsGA | CA913188572 | BRCA2 | c.6625_6626delinsGA (p.Ile2209Glu) c.6256_6257delinsGA (p.Ile2086Glu) n.6625_6626delinsGA | ClinVar dbSNP |
| 13 | g.32340980_32340988delinsATAGAAGTT | CA2082816460 | BRCA2 | c.6625_6633delinsATAGAAGTT (p.Ile2209=) c.6256_6264delinsATAGAAGTT (p.Ile2086=) n.6625_6633delinsATAGAAGTT | |
| 13 | g.32340981T>A | CA387790246 | BRCA2 | c.6626T>A (p.Ile2209Lys) c.6257T>A (p.Ile2086Lys) n.6626T>A | dbSNP gnomAD v4 |
| 13 | g.32340981T>C | CA024222 | BRCA2 | c.6626T>C (p.Ile2209Thr) c.6257T>C (p.Ile2086Thr) n.6626T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340981T>G | CA387790249 | BRCA2 | c.6626T>G (p.Ile2209Arg) c.6257T>G (p.Ile2086Arg) n.6626T>G | ClinVar |
| 13 | g.32340981T= | CA2082816481 | BRCA2 | c.6626T= (p.Ile2209=) c.6257T= (p.Ile2086=) n.6626T= | |
| 13 | g.32340982_32340989del | CA024226 | BRCA2 | c.6627_6634del (p.Ile2209MetfsTer13) c.6258_6265del (p.Ile2086MetfsTer13) n.6627_6634del | ClinVar dbSNP |
| 13 | g.32340982A= | CA2082816489 | BRCA2 | c.6627A= (p.Ile2209=) c.6258A= (p.Ile2086=) n.6627A= | |
| 13 | g.32340982A>C | CA337248 | BRCA2 | c.6627A>C (p.Ile2209=) c.6258A>C (p.Ile2086=) n.6627A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340982A>G | CA387790251 | BRCA2 | c.6627A>G (p.Ile2209Met) c.6258A>G (p.Ile2086Met) n.6627A>G | ClinVar dbSNP |
| 13 | g.32340982A>T | CA483439328 | BRCA2 | c.6627A>T (p.Ile2209=) c.6258A>T (p.Ile2086=) n.6627A>T | ClinVar dbSNP |
| 13 | g.32340984_32340986del | CA1139770785 | BRCA2 | c.6629_6631del (p.Glu2210del) c.6260_6262del (p.Glu2087del) n.6629_6631del | |
| 13 | g.32340983G>A | CA387790256 | BRCA2 | c.6628G>A (p.Glu2210Lys) c.6259G>A (p.Glu2087Lys) n.6628G>A | dbSNP COSMIC |
| 13 | g.32340983G>C | CA387790258 | BRCA2 | c.6628G>C (p.Glu2210Gln) c.6259G>C (p.Glu2087Gln) n.6628G>C | ClinVar dbSNP |
| 13 | g.32340983G= | CA2082816501 | BRCA2 | c.6628G= (p.Glu2210=) c.6259G= (p.Glu2087=) n.6628G= | |
| 13 | g.32340983G>T | CA387790261 | BRCA2 | c.6628G>T (p.Glu2210Ter) c.6259G>T (p.Glu2087Ter) n.6628G>T | dbSNP |
| 13 | g.32340983_32340985delinsGAA | CA2082816494 | BRCA2 | c.6628_6630delinsGAA (p.Glu2210=) c.6259_6261delinsGAA (p.Glu2087=) n.6628_6630delinsGAA | |
| 13 | g.32340984A>C | CA387790263 | BRCA2 | c.6629A>C (p.Glu2210Ala) c.6260A>C (p.Glu2087Ala) n.6629A>C | dbSNP |
| 13 | g.32340984A>G | CA387790265 | BRCA2 | c.6629A>G (p.Glu2210Gly) c.6260A>G (p.Glu2087Gly) n.6629A>G | |
| 13 | g.32340984A>T | CA387790268 | BRCA2 | c.6629A>T (p.Glu2210Val) c.6260A>T (p.Glu2087Val) n.6629A>T | dbSNP |
| 13 | g.32340984_32340985del | CA024228 | BRCA2 | c.6629_6630del (p.Glu2210GlyfsTer14) c.6260_6261del (p.Glu2087GlyfsTer14) n.6629_6630del | ClinVar dbSNP |
| 13 | g.32340985A>C | CA387790273 | BRCA2 | c.6630A>C (p.Glu2210Asp) c.6261A>C (p.Glu2087Asp) n.6630A>C | |
| 13 | g.32340985A>G | CA483439332 | BRCA2 | c.6630A>G (p.Glu2210=) c.6261A>G (p.Glu2087=) n.6630A>G | ClinVar dbSNP |
| 13 | g.32340985A>T | CA387790275 | BRCA2 | c.6630A>T (p.Glu2210Asp) c.6261A>T (p.Glu2087Asp) n.6630A>T | dbSNP |
| 13 | g.32340985_32340989delinsAGTTT | CA2082816516 | BRCA2 | c.6630_6634delinsAGTTT (p.Glu2210=) c.6261_6265delinsAGTTT (p.Glu2087=) n.6630_6634delinsAGTTT | |
| 13 | g.32340986G>A | CA387790283 | BRCA2 | c.6631G>A (p.Val2211Ile) c.6262G>A (p.Val2088Ile) n.6631G>A | ClinVar dbSNP |
| 13 | g.32340986G>C | CA387790281 | BRCA2 | c.6631G>C (p.Val2211Leu) c.6262G>C (p.Val2088Leu) n.6631G>C | dbSNP |
| 13 | g.32340986G= | CA2082816524 | BRCA2 | c.6631G= (p.Val2211=) c.6262G= (p.Val2088=) n.6631G= | |
| 13 | g.32340986G>T | CA16614197 | BRCA2 | c.6631G>T (p.Val2211Phe) c.6262G>T (p.Val2088Phe) n.6631G>T | ClinVar dbSNP |
| 13 | g.32340989_32340992del | CA024232 | BRCA2 | c.6634_6637del (p.Cys2212LeufsTer16) c.6265_6268del (p.Cys2089LeufsTer16) n.6634_6637del | ClinVar dbSNP |
| 13 | g.32340987T>A | CA387790286 | BRCA2 | c.6632T>A (p.Val2211Asp) c.6263T>A (p.Val2088Asp) n.6632T>A | dbSNP |
| 13 | g.32340987T>C | CA387790288 | BRCA2 | c.6632T>C (p.Val2211Ala) c.6263T>C (p.Val2088Ala) n.6632T>C | gnomAD v4 |
| 13 | g.32340987T>G | CA387790290 | BRCA2 | c.6632T>G (p.Val2211Gly) c.6263T>G (p.Val2088Gly) n.6632T>G | |
| 13 | g.32340988_32340992del | CA1139770790 | BRCA2 | c.6633_6637del (p.Cys2212TyrfsTer11) c.6264_6268del (p.Cys2089TyrfsTer11) n.6633_6637del | |
| 13 | g.32340988T>A | CA483439334 | BRCA2 | c.6633T>A (p.Val2211=) c.6264T>A (p.Val2088=) n.6633T>A | dbSNP |
| 13 | g.32340988T>C | CA024230 | BRCA2 | c.6633T>C (p.Val2211=) c.6264T>C (p.Val2088=) n.6633T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340988T>G | CA483439335 | BRCA2 | c.6633T>G (p.Val2211=) c.6264T>G (p.Val2088=) n.6633T>G | ClinVar dbSNP |
| 13 | g.32340988T= | CA2082816533 | BRCA2 | c.6633T= (p.Val2211=) c.6264T= (p.Val2088=) n.6633T= | |
| 13 | g.32340988_32340990delinsTTG | CA2082816536 | BRCA2 | c.6633_6635delinsTTG (p.Val2211=) c.6264_6266delinsTTG (p.Val2088=) n.6633_6635delinsTTG | |
| 13 | g.32340988_32340989insACTACTATATATACTACTTACTCCAAATATA | CA2499222247 | BRCA2 | c.6633_6634insACTACTATATATACTACTTACTCCAAATATA (p.Cys2212ThrfsTer23) c.6264_6265insACTACTATATATACTACTTACTCCAAATATA (p.Cys2089ThrfsTer23) n.6633_6634insACTACTATATATACTACTTACTCCAAATATA | dbSNP |
| 13 | g.32340989T>A | CA387790293 | BRCA2 | c.6634T>A (p.Cys2212Ser) c.6265T>A (p.Cys2089Ser) n.6634T>A | dbSNP |
| 13 | g.32340989T>C | CA387790295 | BRCA2 | c.6634T>C (p.Cys2212Arg) c.6265T>C (p.Cys2089Arg) n.6634T>C | dbSNP |
| 13 | g.32340989T>G | CA387790296 | BRCA2 | c.6634T>G (p.Cys2212Gly) c.6265T>G (p.Cys2089Gly) n.6634T>G | |
| 13 | g.32340990_32340991del | CA024234 | BRCA2 | c.6635_6636del (p.Cys2212PhefsTer12) c.6266_6267del (p.Cys2089PhefsTer12) n.6635_6636del | ClinVar dbSNP |
| 13 | g.32340990del | CA2580088041 | BRCA2 | c.6635del (p.Cys2212PhefsTer17) c.6266del (p.Cys2089PhefsTer17) n.6635del | ClinVar |
| 13 | g.32340990G>A | CA387790300 | BRCA2 | c.6635G>A (p.Cys2212Tyr) c.6266G>A (p.Cys2089Tyr) n.6635G>A | dbSNP |