| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32339554_32340264del | CA2580087342 | BRCA2 | c.5199_5909del (p.Glu1734_Ser1970del) c.4830_5540del (p.Glu1611_Ser1847del) n.5199_5909del | ClinVar |
| 13 | g.32340106_32340965del | CA645585173 | BRCA2 | c.5751_6610del (p.His1918CysfsTer20) c.5382_6241del (p.His1795CysfsTer20) n.5751_6610del | COSMIC COSMIC |
| 13 | g.32340195_32340208delinsCTTGTGATGTTAGT | CA2082828109 | BRCA2 | c.5840_5853delinsCTTGTGATGTTAGT (p.Pro1947=) c.5471_5484delinsCTTGTGATGTTAGT (p.Pro1824=) n.5840_5853delinsCTTGTGATGTTAGT | |
| 13 | g.32340199_32340211del | CA1139663228 | BRCA2 | c.5844_5856del (p.Cys1948TrpfsTer11) c.5475_5487del (p.Cys1825TrpfsTer11) n.5844_5856del | ClinVar dbSNP |
| 13 | g.32340200_32340201delinsGA | CA2082828139 | BRCA2 | c.5845_5846delinsGA (p.Asp1949=) c.5476_5477delinsGA (p.Asp1826=) n.5845_5846delinsGA | |
| 13 | g.32340201del | CA658653680 | BRCA2 | c.5846del (p.Asp1949ValfsTer14) c.5477del (p.Asp1826ValfsTer14) n.5846del | ClinVar dbSNP |
| 13 | g.32340201A= | CA2082828156 | BRCA2 | c.5846A= (p.Asp1949=) c.5477A= (p.Asp1826=) n.5846A= | |
| 13 | g.32340201A>C | CA387787376 | BRCA2 | c.5846A>C (p.Asp1949Ala) c.5477A>C (p.Asp1826Ala) n.5846A>C | ClinVar |
| 13 | g.32340201A>G | CA023295 | BRCA2 | c.5846A>G (p.Asp1949Gly) c.5477A>G (p.Asp1826Gly) n.5846A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32340201A>T | CA387787377 | BRCA2 | c.5846A>T (p.Asp1949Val) c.5477A>T (p.Asp1826Val) n.5846A>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340202T>A | CA387787379 | BRCA2 | c.5847T>A (p.Asp1949Glu) c.5478T>A (p.Asp1826Glu) n.5847T>A | dbSNP |
| 13 | g.32340202T>C | CA483439018 | BRCA2 | c.5847T>C (p.Asp1949=) c.5478T>C (p.Asp1826=) n.5847T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340202T>G | CA387787380 | BRCA2 | c.5847T>G (p.Asp1949Glu) c.5478T>G (p.Asp1826Glu) n.5847T>G | dbSNP |
| 13 | g.32340202T= | CA2082828157 | BRCA2 | c.5847T= (p.Asp1949=) c.5478T= (p.Asp1826=) n.5847T= | |
| 13 | g.32340202_32340206delinsTGTTA | CA2082828158 | BRCA2 | c.5847_5851delinsTGTTA (p.Asp1949=) c.5478_5482delinsTGTTA (p.Asp1826=) n.5847_5851delinsTGTTA | |
| 13 | g.32340203G>A | CA023298 | BRCA2 | c.5848G>A (p.Val1950Ile) c.5479G>A (p.Val1827Ile) n.5848G>A | ClinVar dbSNP |
| 13 | g.32340203G>C | CA387787386 | BRCA2 | c.5848G>C (p.Val1950Leu) c.5479G>C (p.Val1827Leu) n.5848G>C | |
| 13 | g.32340203G= | CA2082828173 | BRCA2 | c.5848G= (p.Val1950=) c.5479G= (p.Val1827=) n.5848G= | |
| 13 | g.32340203G>T | CA387787387 | BRCA2 | c.5848G>T (p.Val1950Phe) c.5479G>T (p.Val1827Phe) n.5848G>T | |
| 13 | g.32340206_32340209dup | CA023304 | BRCA2 | c.5851_5854dup (p.Leu1952Ter) c.5482_5485dup (p.Leu1829Ter) n.5851_5854dup | ClinVar dbSNP |
| 13 | g.32340206_32340209del | CA023297 | BRCA2 | c.5851_5854del (p.Ser1951TrpfsTer11) c.5482_5485del (p.Ser1828TrpfsTer11) n.5851_5854del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32340204T>A | CA387787389 | BRCA2 | c.5849T>A (p.Val1950Asp) c.5480T>A (p.Val1827Asp) n.5849T>A | dbSNP |
| 13 | g.32340204T>C | CA387787390 | BRCA2 | c.5849T>C (p.Val1950Ala) c.5480T>C (p.Val1827Ala) n.5849T>C | dbSNP |
| 13 | g.32340204T>G | CA387787392 | BRCA2 | c.5849T>G (p.Val1950Gly) c.5480T>G (p.Val1827Gly) n.5849T>G | dbSNP |
| 13 | g.32340205T>A | CA483439021 | BRCA2 | c.5850T>A (p.Val1950=) c.5481T>A (p.Val1827=) n.5850T>A | dbSNP |
| 13 | g.32340205T>C | CA483439022 | BRCA2 | c.5850T>C (p.Val1950=) c.5481T>C (p.Val1827=) n.5850T>C | ClinVar dbSNP |
| 13 | g.32340205T>G | CA483439023 | BRCA2 | c.5850T>G (p.Val1950=) c.5481T>G (p.Val1827=) n.5850T>G | dbSNP |
| 13 | g.32340206A= | CA2082828195 | BRCA2 | c.5851A= (p.Ser1951=) c.5482A= (p.Ser1828=) n.5851A= | |
| 13 | g.32340206A>C | CA387787393 | BRCA2 | c.5851A>C (p.Ser1951Arg) c.5482A>C (p.Ser1828Arg) n.5851A>C | |
| 13 | g.32340206A>G | CA387787395 | BRCA2 | c.5851A>G (p.Ser1951Gly) c.5482A>G (p.Ser1828Gly) n.5851A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340206A>T | CA387787396 | BRCA2 | c.5851A>T (p.Ser1951Cys) c.5482A>T (p.Ser1828Cys) n.5851A>T | dbSNP |
| 13 | g.32340206dup | CA2695217903 | BRCA2 | c.5851dup (p.Ser1951LysfsTer9) c.5482dup (p.Ser1828LysfsTer9) n.5851dup | |
| 13 | g.32340207G>A | CA387787397 | BRCA2 | c.5852G>A (p.Ser1951Asn) c.5483G>A (p.Ser1828Asn) n.5852G>A | ClinVar dbSNP |
| 13 | g.32340207G>C | CA387787399 | BRCA2 | c.5852G>C (p.Ser1951Thr) c.5483G>C (p.Ser1828Thr) n.5852G>C | dbSNP |
| 13 | g.32340207G= | CA2082828200 | BRCA2 | c.5852G= (p.Ser1951=) c.5483G= (p.Ser1828=) n.5852G= | |
| 13 | g.32340207G>T | CA387787401 | BRCA2 | c.5852G>T (p.Ser1951Ile) c.5483G>T (p.Ser1828Ile) n.5852G>T | dbSNP |
| 13 | g.32340208T>A | CA387787403 | BRCA2 | c.5853T>A (p.Ser1951Arg) c.5484T>A (p.Ser1828Arg) n.5853T>A | dbSNP |
| 13 | g.32340208T>C | CA483439025 | BRCA2 | c.5853T>C (p.Ser1951=) c.5484T>C (p.Ser1828=) n.5853T>C | |
| 13 | g.32340208T>G | CA387787404 | BRCA2 | c.5853T>G (p.Ser1951Arg) c.5484T>G (p.Ser1828Arg) n.5853T>G | |
| 13 | g.32340208T= | CA2082828205 | BRCA2 | c.5853T= (p.Ser1951=) c.5484T= (p.Ser1828=) n.5853T= | |
| 13 | g.32340209T>A | CA387787405 | BRCA2 | c.5854T>A (p.Leu1952Met) c.5485T>A (p.Leu1829Met) n.5854T>A | ClinVar dbSNP |
| 13 | g.32340209T>C | CA483439026 | BRCA2 | c.5854T>C (p.Leu1952=) c.5485T>C (p.Leu1829=) n.5854T>C | dbSNP |
| 13 | g.32340209T>G | CA387787406 | BRCA2 | c.5854T>G (p.Leu1952Val) c.5485T>G (p.Leu1829Val) n.5854T>G | dbSNP |
| 13 | g.32340210_32340211insAGTT | CA10589334 | BRCA2 | c.5855_5856insAGTT (p.Glu1953ValfsTer8) c.5486_5487insAGTT (p.Glu1830ValfsTer8) n.5855_5856insAGTT | ClinVar dbSNP |
| 13 | g.32340210T>A | CA023306 | BRCA2 | c.5855T>A (p.Leu1952Ter) c.5486T>A (p.Leu1829Ter) n.5855T>A | ClinVar dbSNP gnomAD v2 |
| 13 | g.32340210T>C | CA387787407 | BRCA2 | c.5855T>C (p.Leu1952Ser) c.5486T>C (p.Leu1829Ser) n.5855T>C | ClinVar dbSNP |
| 13 | g.32340210T>G | CA023308 | BRCA2 | c.5855T>G (p.Leu1952Trp) c.5486T>G (p.Leu1829Trp) n.5855T>G | ClinVar dbSNP |
| 13 | g.32340210T= | CA2082828254 | BRCA2 | c.5855T= (p.Leu1952=) c.5486T= (p.Leu1829=) n.5855T= | |
| 13 | g.32340210_32340211delinsTG | CA2082828256 | BRCA2 | c.5855_5856delinsTG (p.Leu1952=) c.5486_5487delinsTG (p.Leu1829=) n.5855_5856delinsTG | |
| 13 | g.32340211G>A | CA483439027 | BRCA2 | c.5856G>A (p.Leu1952=) c.5487G>A (p.Leu1829=) n.5856G>A | dbSNP |