| 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.32336445_32336448delinsAACT | CA2082749225 | BRCA2 | c.2090_2093delinsAACT (p.Lys697=) c.1721_1724delinsAACT (p.Lys574=) n.2090_2093delinsAACT | |
| 13 | g.32336446_32336449dup | CA2582341832 | BRCA2 | c.2091_2094dup (p.Gln699ThrfsTer10) c.1722_1725dup (p.Gln576ThrfsTer10) n.2091_2094dup | |
| 13 | g.32336446_32336447delinsAC | CA2082749246 | BRCA2 | c.2091_2092delinsAC (p.Lys697=) c.1722_1723delinsAC (p.Lys574=) n.2091_2092delinsAC | |
| 13 | g.32336448_32336450del | CA645372983 | BRCA2 | c.2093_2095del (p.Leu698del) c.1724_1726del (p.Leu575del) n.2093_2095del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336447del | CA014309 | BRCA2 | c.2092del (p.Leu698TyrfsTer?) c.1723del (p.Leu575TyrfsTer?) n.2092del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32336447C>A | CA387769177 | BRCA2 | c.2092C>A (p.Leu698Ile) c.1723C>A (p.Leu575Ile) n.2092C>A | dbSNP |
| 13 | g.32336447C= | CA2082749265 | BRCA2 | c.2092C= (p.Leu698=) c.1723C= (p.Leu575=) n.2092C= | |
| 13 | g.32336447C>G | CA387769179 | BRCA2 | c.2092C>G (p.Leu698Val) c.1723C>G (p.Leu575Val) n.2092C>G | dbSNP |
| 13 | g.32336447C>T | CA483275162 | BRCA2 | c.2092C>T (p.Leu698=) c.1723C>T (p.Leu575=) n.2092C>T | ClinVar dbSNP |
| 13 | g.32336448T>A | CA387769181 | BRCA2 | c.2093T>A (p.Leu698Gln) c.1724T>A (p.Leu575Gln) n.2093T>A | dbSNP |
| 13 | g.32336448T>C | CA387769187 | BRCA2 | c.2093T>C (p.Leu698Pro) c.1724T>C (p.Leu575Pro) n.2093T>C | gnomAD v4 |
| 13 | g.32336448T>G | CA387769184 | BRCA2 | c.2093T>G (p.Leu698Arg) c.1724T>G (p.Leu575Arg) n.2093T>G | |
| 13 | g.32336448_32336449delinsTA | CA2082749287 | BRCA2 | c.2093_2094delinsTA (p.Leu698=) c.1724_1725delinsTA (p.Leu575=) n.2093_2094delinsTA | |
| 13 | g.32336448_32336450delinsTAC | CA2082749288 | BRCA2 | c.2093_2095delinsTAC (p.Leu698=) c.1724_1726delinsTAC (p.Leu575=) n.2093_2095delinsTAC | |
| 13 | g.32336449del | CA014327 | BRCA2 | c.2094del (p.Gln699SerfsTer?) c.1725del (p.Gln576SerfsTer?) n.2094del | ClinVar dbSNP |
| 13 | g.32336449A= | CA2082749307 | BRCA2 | c.2094A= (p.Leu698=) c.1725A= (p.Leu575=) n.2094A= | |
| 13 | g.32336449A>C | CA483275167 | BRCA2 | c.2094A>C (p.Leu698=) c.1725A>C (p.Leu575=) n.2094A>C | dbSNP |
| 13 | g.32336449A>G | CA014321 | BRCA2 | c.2094A>G (p.Leu698=) c.1725A>G (p.Leu575=) n.2094A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336449A>T | CA483275169 | BRCA2 | c.2094A>T (p.Leu698=) c.1725A>T (p.Leu575=) n.2094A>T | dbSNP |
| 13 | g.32336450_32336451del | CA10589134 | BRCA2 | c.2095_2096del (p.Gln699ValfsTer8) c.1726_1727del (p.Gln576ValfsTer8) n.2095_2096del | ClinVar dbSNP |
| 13 | g.32336450C>A | CA387769191 | BRCA2 | c.2095C>A (p.Gln699Lys) c.1726C>A (p.Gln576Lys) n.2095C>A | dbSNP |
| 13 | g.32336450C= | CA2082749320 | BRCA2 | c.2095C= (p.Gln699=) c.1726C= (p.Gln576=) n.2095C= | |
| 13 | g.32336450C>G | CA387769194 | BRCA2 | c.2095C>G (p.Gln699Glu) c.1726C>G (p.Gln576Glu) n.2095C>G | dbSNP |
| 13 | g.32336450C>T | CA10583077 | BRCA2 | c.2095C>T (p.Gln699Ter) c.1726C>T (p.Gln576Ter) n.2095C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336451del | CA2582341833 | BRCA2 | c.2096del (p.Gln699ArgfsTer?) c.1727del (p.Gln576ArgfsTer?) n.2096del | |
| 13 | g.32336451A>C | CA387769873 | BRCA2 | c.2096A>C (p.Gln699Pro) c.1727A>C (p.Gln576Pro) n.2096A>C | |
| 13 | g.32336451A>G | CA387769876 | BRCA2 | c.2096A>G (p.Gln699Arg) c.1727A>G (p.Gln576Arg) n.2096A>G | ClinVar dbSNP |
| 13 | g.32336451A>T | CA387769880 | BRCA2 | c.2096A>T (p.Gln699Leu) c.1727A>T (p.Gln576Leu) n.2096A>T | dbSNP |
| 13 | g.32336451_32336453dup | CA2580087200 | BRCA2 | c.2096_2098dup (p.Leu700Ter) c.1727_1729dup (p.Leu577Ter) n.2096_2098dup | ClinVar |
| 13 | g.32336452del | CA2580087201 | BRCA2 | c.2097del (p.Gln699HisfsTer?) c.1728del (p.Gln576HisfsTer?) n.2097del | ClinVar |
| 13 | g.32336452G>A | CA6940579 | BRCA2 | c.2097G>A (p.Gln699=) c.1728G>A (p.Gln576=) n.2097G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336452G>C | CA387769884 | BRCA2 | c.2097G>C (p.Gln699His) c.1728G>C (p.Gln576His) n.2097G>C | |
| 13 | g.32336452G= | CA2082749334 | BRCA2 | c.2097G= (p.Gln699=) c.1728G= (p.Gln576=) n.2097G= | |
| 13 | g.32336452G>T | CA014338 | BRCA2 | c.2097G>T (p.Gln699His) c.1728G>T (p.Gln576His) n.2097G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336452_32336456delinsGTTAT | CA2082749339 | BRCA2 | c.2097_2101delinsGTTAT (p.Gln699=) c.1728_1732delinsGTTAT (p.Gln576=) n.2097_2101delinsGTTAT | |
| 13 | g.32336452_32336472delinsGTTATTTATTACCCCAGAAGC | CA2082749340 | BRCA2 | c.2097_2117delinsGTTATTTATTACCCCAGAAGC (p.Gln699=) c.1728_1748delinsGTTATTTATTACCCCAGAAGC (p.Gln576=) n.2097_2117delinsGTTATTTATTACCCCAGAAGC | |
| 13 | g.32336453T>A | CA014347 | BRCA2 | c.2098T>A (p.Leu700Ile) c.1729T>A (p.Leu577Ile) n.2098T>A | ClinVar dbSNP |
| 13 | g.32336453T>C | CA483436778 | BRCA2 | c.2098T>C (p.Leu700=) c.1729T>C (p.Leu577=) n.2098T>C | |
| 13 | g.32336453T>G | CA387769891 | BRCA2 | c.2098T>G (p.Leu700Val) c.1729T>G (p.Leu577Val) n.2098T>G | dbSNP |
| 13 | g.32336453T= | CA2082749357 | BRCA2 | c.2098T= (p.Leu700=) c.1729T= (p.Leu577=) n.2098T= | |
| 13 | g.32336454del | CA2580087202 | BRCA2 | c.2099del (p.Leu700TyrfsTer30) c.1730del (p.Leu577TyrfsTer30) n.2099del | ClinVar |
| 13 | g.32336458_32336461del | CA014354 | BRCA2 | c.2103_2106del (p.Phe701LeufsTer28) c.1734_1737del (p.Phe578LeufsTer28) n.2103_2106del | dbSNP |
| 13 | g.32336453_32336472delinsGCA | CA658656356 | BRCA2 | c.2098_2117delinsGCA (p.Leu700AlafsTer2) c.1729_1748delinsGCA (p.Leu577AlafsTer2) n.2098_2117delinsGCA | ClinVar dbSNP |
| 13 | g.32336454T>A | CA387769896 | BRCA2 | c.2099T>A (p.Leu700Ter) c.1730T>A (p.Leu577Ter) n.2099T>A | ClinVar dbSNP |
| 13 | g.32336454T>C | CA387769898 | BRCA2 | c.2099T>C (p.Leu700Ser) c.1730T>C (p.Leu577Ser) n.2099T>C | dbSNP |
| 13 | g.32336454T>G | CA387769900 | BRCA2 | c.2099T>G (p.Leu700Ter) c.1730T>G (p.Leu577Ter) n.2099T>G | ClinVar dbSNP |
| 13 | g.32336454T= | CA2082749367 | BRCA2 | c.2099T= (p.Leu700=) c.1730T= (p.Leu577=) n.2099T= | |
| 13 | g.32336455A= | CA2082749372 | BRCA2 | c.2100A= (p.Leu700=) c.1731A= (p.Leu577=) n.2100A= |