Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32339169_32339174delinsTTTCTA | CA2082816130 | BRCA2 | c.4814_4819delinsTTTCTA (p.Val1605=) c.4445_4450delinsTTTCTA (p.Val1482=) n.4814_4819delinsTTTCTA | |
13 | g.32339170T>A | CA483438363 | BRCA2 | c.4815T>A (p.Val1605=) c.4446T>A (p.Val1482=) n.4815T>A | dbSNP |
13 | g.32339170T>C | CA483438364 | BRCA2 | c.4815T>C (p.Val1605=) c.4446T>C (p.Val1482=) n.4815T>C | ClinVar dbSNP |
13 | g.32339170T>G | CA483438365 | BRCA2 | c.4815T>G (p.Val1605=) c.4446T>G (p.Val1482=) n.4815T>G | |
13 | g.32339172_32339176del | CA915948473 | BRCA2 | c.4817_4821del (p.Ser1606Ter) c.4448_4452del (p.Ser1483Ter) n.4817_4821del | ClinVar dbSNP |
13 | g.32339171T>A | CA387783287 | BRCA2 | c.4816T>A (p.Ser1606Thr) c.4447T>A (p.Ser1483Thr) n.4816T>A | dbSNP |
13 | g.32339171T>C | CA387783288 | BRCA2 | c.4816T>C (p.Ser1606Pro) c.4447T>C (p.Ser1483Pro) n.4816T>C | |
13 | g.32339171T>G | CA387783289 | BRCA2 | c.4816T>G (p.Ser1606Ala) c.4447T>G (p.Ser1483Ala) n.4816T>G | |
13 | g.32339172_32339173del | CA2580087313 | BRCA2 | c.4817_4818del (p.Ser1606TyrfsTer2) c.4448_4449del (p.Ser1483TyrfsTer2) n.4817_4818del | ClinVar |
13 | g.32339172del | CA2695199687 | BRCA2 | c.4817del (p.Ser1606LeufsTer11) c.4448del (p.Ser1483LeufsTer11) n.4817del | ClinVar |
13 | g.32339172C>A | CA387783290 | BRCA2 | c.4817C>A (p.Ser1606Tyr) c.4448C>A (p.Ser1483Tyr) n.4817C>A | dbSNP |
13 | g.32339172C= | CA2082816141 | BRCA2 | c.4817C= (p.Ser1606=) c.4448C= (p.Ser1483=) n.4817C= | |
13 | g.32339172C>G | CA10579634 | BRCA2 | c.4817C>G (p.Ser1606Cys) c.4448C>G (p.Ser1483Cys) n.4817C>G | ClinVar dbSNP |
13 | g.32339172C>T | CA387783291 | BRCA2 | c.4817C>T (p.Ser1606Phe) c.4448C>T (p.Ser1483Phe) n.4817C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32339173T>A | CA483438367 | BRCA2 | c.4818T>A (p.Ser1606=) c.4449T>A (p.Ser1483=) n.4818T>A | dbSNP |
13 | g.32339173T>C | CA483438368 | BRCA2 | c.4818T>C (p.Ser1606=) c.4449T>C (p.Ser1483=) n.4818T>C | ClinVar dbSNP |
13 | g.32339173T>G | CA483438369 | BRCA2 | c.4818T>G (p.Ser1606=) c.4449T>G (p.Ser1483=) n.4818T>G | |
13 | g.32339173T= | CA2082816145 | BRCA2 | c.4818T= (p.Ser1606=) c.4449T= (p.Ser1483=) n.4818T= | |
13 | g.32339174A= | CA2082816150 | BRCA2 | c.4819A= (p.Ile1607=) c.4450A= (p.Ile1484=) n.4819A= | |
13 | g.32339174A>C | CA387783292 | BRCA2 | c.4819A>C (p.Ile1607Leu) c.4450A>C (p.Ile1484Leu) n.4819A>C | |
13 | g.32339174A>G | CA020868 | BRCA2 | c.4819A>G (p.Ile1607Val) c.4450A>G (p.Ile1484Val) n.4819A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32339174A>T | CA387783293 | BRCA2 | c.4819A>T (p.Ile1607Phe) c.4450A>T (p.Ile1484Phe) n.4819A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32339175T>A | CA387783294 | BRCA2 | c.4820T>A (p.Ile1607Asn) c.4451T>A (p.Ile1484Asn) n.4820T>A | dbSNP |
13 | g.32339175T>C | CA387783295 | BRCA2 | c.4820T>C (p.Ile1607Thr) c.4451T>C (p.Ile1484Thr) n.4820T>C | ClinVar dbSNP |
13 | g.32339175T>G | CA387783296 | BRCA2 | c.4820T>G (p.Ile1607Ser) c.4451T>G (p.Ile1484Ser) n.4820T>G | COSMIC COSMIC |
13 | g.32339175T= | CA2082816164 | BRCA2 | c.4820T= (p.Ile1607=) c.4451T= (p.Ile1484=) n.4820T= | |
13 | g.32339175_32339177delinsTTG | CA2082816162 | BRCA2 | c.4820_4822delinsTTG (p.Ile1607=) c.4451_4453delinsTTG (p.Ile1484=) n.4820_4822delinsTTG | |
13 | g.32339175_32339178delinsTTGA | CA2082816159 | BRCA2 | c.4820_4823delinsTTGA (p.Ile1607=) c.4451_4454delinsTTGA (p.Ile1484=) n.4820_4823delinsTTGA | |
13 | g.32339176T>A | CA483438371 | BRCA2 | c.4821T>A (p.Ile1607=) c.4452T>A (p.Ile1484=) n.4821T>A | |
13 | g.32339176T>C | CA483438372 | BRCA2 | c.4821T>C (p.Ile1607=) c.4452T>C (p.Ile1484=) n.4821T>C | ClinVar dbSNP |
13 | g.32339176T>G | CA387783297 | BRCA2 | c.4821T>G (p.Ile1607Met) c.4452T>G (p.Ile1484Met) n.4821T>G | |
13 | g.32339176_32339177del | CA6940818 | BRCA2 | c.4821_4822del (p.Glu1608AspfsTer6) c.4452_4453del (p.Glu1485AspfsTer6) n.4821_4822del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32339176_32339178del | CA1139770407 | BRCA2 | c.4821_4823del (p.Ile1607_Glu1608delinsMet) c.4452_4454del (p.Ile1484_Glu1485delinsMet) n.4821_4823del | |
13 | g.32339176_32339178delinsC | CA020871 | BRCA2 | c.4821_4823delinsC (p.Glu1608AspfsTer6) c.4452_4454delinsC (p.Glu1485AspfsTer6) n.4821_4823delinsC | ClinVar dbSNP |
13 | g.32339176_32339178delinsTGA | CA2082816185 | BRCA2 | c.4821_4823delinsTGA (p.Ile1607=) c.4452_4454delinsTGA (p.Ile1484=) n.4821_4823delinsTGA | |
13 | g.32339177G>A | CA387783298 | BRCA2 | c.4822G>A (p.Glu1608Lys) c.4453G>A (p.Glu1485Lys) n.4822G>A | |
13 | g.32339177G>C | CA387783299 | BRCA2 | c.4822G>C (p.Glu1608Gln) c.4453G>C (p.Glu1485Gln) n.4822G>C | |
13 | g.32339177G= | CA2082816192 | BRCA2 | c.4822G= (p.Glu1608=) c.4453G= (p.Glu1485=) n.4822G= | |
13 | g.32339177G>T | CA387783300 | BRCA2 | c.4822G>T (p.Glu1608Ter) c.4453G>T (p.Glu1485Ter) n.4822G>T | ClinVar dbSNP gnomAD v4 |
13 | g.32339179_32339180del | CA020874 | BRCA2 | c.4824_4825del (p.Glu1608AspfsTer6) c.4455_4456del (p.Glu1485AspfsTer6) n.4824_4825del | ClinVar dbSNP |
13 | g.32339178A= | CA2082816201 | BRCA2 | c.4823A= (p.Glu1608=) c.4454A= (p.Glu1485=) n.4823A= | |
13 | g.32339178A>C | CA6940819 | BRCA2 | c.4823A>C (p.Glu1608Ala) c.4454A>C (p.Glu1485Ala) n.4823A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32339178A>G | CA387783301 | BRCA2 | c.4823A>G (p.Glu1608Gly) c.4454A>G (p.Glu1485Gly) n.4823A>G | ClinVar dbSNP |
13 | g.32339178A>T | CA387783302 | BRCA2 | c.4823A>T (p.Glu1608Val) c.4454A>T (p.Glu1485Val) n.4823A>T | dbSNP |
13 | g.32339179G>A | CA483438375 | BRCA2 | c.4824G>A (p.Glu1608=) c.4455G>A (p.Glu1485=) n.4824G>A | dbSNP |
13 | g.32339179G>C | CA387783303 | BRCA2 | c.4824G>C (p.Glu1608Asp) c.4455G>C (p.Glu1485Asp) n.4824G>C | dbSNP |
13 | g.32339179G>T | CA387783304 | BRCA2 | c.4824G>T (p.Glu1608Asp) c.4455G>T (p.Glu1485Asp) n.4824G>T | dbSNP |
13 | g.32339180A= | CA2082816212 | BRCA2 | c.4825A= (p.Thr1609=) c.4456A= (p.Thr1486=) n.4825A= | |
13 | g.32339180A>C | CA387783305 | BRCA2 | c.4825A>C (p.Thr1609Pro) c.4456A>C (p.Thr1486Pro) n.4825A>C | gnomAD v4 |
13 | g.32339180A>G | CA10579635 | BRCA2 | c.4825A>G (p.Thr1609Ala) c.4456A>G (p.Thr1486Ala) n.4825A>G | ClinVar dbSNP gnomAD v4 |