| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32340106_32340965del | CA645585173 | BRCA2 | c.5751_6610del (p.His1918CysfsTer20) c.5382_6241del (p.His1795CysfsTer20) n.5751_6610del | COSMIC COSMIC |
| 13 | g.32340261_32340269del | CA2517023400 | BRCA2 | c.5906_5914del (p.Val1969_Ser1971del) c.5537_5545del (p.Val1846_Ser1848del) n.5906_5914del | |
| 13 | g.32340266_32340267delinsTC | CA2082828870 | BRCA2 | c.5911_5912delinsTC (p.Ser1971=) c.5542_5543delinsTC (p.Ser1848=) n.5911_5912delinsTC | |
| 13 | g.32340267del | CA658653657 | BRCA2 | c.5912del (p.Ser1971LeufsTer?) c.5543del (p.Ser1848LeufsTer?) n.5912del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340267C>A | CA387787515 | BRCA2 | c.5912C>A (p.Ser1971Tyr) c.5543C>A (p.Ser1848Tyr) n.5912C>A | dbSNP |
| 13 | g.32340267C= | CA2082828886 | BRCA2 | c.5912C= (p.Ser1971=) c.5543C= (p.Ser1848=) n.5912C= | |
| 13 | g.32340267C>G | CA387787517 | BRCA2 | c.5912C>G (p.Ser1971Cys) c.5543C>G (p.Ser1848Cys) n.5912C>G | ClinVar dbSNP |
| 13 | g.32340267C>T | CA387787516 | BRCA2 | c.5912C>T (p.Ser1971Phe) c.5543C>T (p.Ser1848Phe) n.5912C>T | ClinVar dbSNP |
| 13 | g.32340267_32340268delinsCT | CA2082828881 | BRCA2 | c.5912_5913delinsCT (p.Ser1971=) c.5543_5544delinsCT (p.Ser1848=) n.5912_5913delinsCT | |
| 13 | g.32340268del | CA919242595 | BRCA2 | c.5913del (p.Ala1972GlnfsTer?) c.5544del (p.Ala1849GlnfsTer?) n.5913del | dbSNP |
| 13 | g.32340268T>A | CA483439072 | BRCA2 | c.5913T>A (p.Ser1971=) c.5544T>A (p.Ser1848=) n.5913T>A | dbSNP |
| 13 | g.32340268T>C | CA6940911 | BRCA2 | c.5913T>C (p.Ser1971=) c.5544T>C (p.Ser1848=) n.5913T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340268T>G | CA483439073 | BRCA2 | c.5913T>G (p.Ser1971=) c.5544T>G (p.Ser1848=) n.5913T>G | dbSNP |
| 13 | g.32340268T= | CA2082828901 | BRCA2 | c.5913T= (p.Ser1971=) c.5544T= (p.Ser1848=) n.5913T= | |
| 13 | g.32340269G>A | CA387787518 | BRCA2 | c.5914G>A (p.Ala1972Thr) c.5545G>A (p.Ala1849Thr) n.5914G>A | dbSNP |
| 13 | g.32340269G>C | CA16619733 | BRCA2 | c.5914G>C (p.Ala1972Pro) c.5545G>C (p.Ala1849Pro) n.5914G>C | ClinVar dbSNP |
| 13 | g.32340269G= | CA2082828914 | BRCA2 | c.5914G= (p.Ala1972=) c.5545G= (p.Ala1849=) n.5914G= | |
| 13 | g.32340269G>T | CA387787519 | BRCA2 | c.5914G>T (p.Ala1972Ser) c.5545G>T (p.Ala1849Ser) n.5914G>T | dbSNP |
| 13 | g.32340270C>A | CA387787520 | BRCA2 | c.5915C>A (p.Ala1972Glu) c.5546C>A (p.Ala1849Glu) n.5915C>A | dbSNP |
| 13 | g.32340270C>G | CA387787522 | BRCA2 | c.5915C>G (p.Ala1972Gly) c.5546C>G (p.Ala1849Gly) n.5915C>G | |
| 13 | g.32340270C>T | CA387787521 | BRCA2 | c.5915C>T (p.Ala1972Val) c.5546C>T (p.Ala1849Val) n.5915C>T | ClinVar dbSNP |
| 13 | g.32340270_32340271delinsCA | CA2082828919 | BRCA2 | c.5915_5916delinsCA (p.Ala1972=) c.5546_5547delinsCA (p.Ala1849=) n.5915_5916delinsCA | |
| 13 | g.32340271A= | CA2082828926 | BRCA2 | c.5916A= (p.Ala1972=) c.5547A= (p.Ala1849=) n.5916A= | |
| 13 | g.32340271A>C | CA483439075 | BRCA2 | c.5916A>C (p.Ala1972=) c.5547A>C (p.Ala1849=) n.5916A>C | dbSNP |
| 13 | g.32340271A>G | CA483439076 | BRCA2 | c.5916A>G (p.Ala1972=) c.5547A>G (p.Ala1849=) n.5916A>G | dbSNP |
| 13 | g.32340271A>T | CA483439077 | BRCA2 | c.5916A>T (p.Ala1972=) c.5547A>T (p.Ala1849=) n.5916A>T | dbSNP |
| 13 | g.32340273del | CA10589336 | BRCA2 | c.5918del (p.Asn1973IlefsTer?) c.5549del (p.Asn1850IlefsTer?) n.5918del | ClinVar dbSNP |
| 13 | g.32340272A= | CA2082828968 | BRCA2 | c.5917A= (p.Asn1973=) c.5548A= (p.Asn1850=) n.5917A= | |
| 13 | g.32340272A>C | CA387787523 | BRCA2 | c.5917A>C (p.Asn1973His) c.5548A>C (p.Asn1850His) n.5917A>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340272A>G | CA387787524 | BRCA2 | c.5917A>G (p.Asn1973Asp) c.5548A>G (p.Asn1850Asp) n.5917A>G | ClinVar dbSNP |
| 13 | g.32340272A>T | CA387787525 | BRCA2 | c.5917A>T (p.Asn1973Tyr) c.5548A>T (p.Asn1850Tyr) n.5917A>T | ClinVar dbSNP |
| 13 | g.32340273A>C | CA387787526 | BRCA2 | c.5918A>C (p.Asn1973Thr) c.5549A>C (p.Asn1850Thr) n.5918A>C | |
| 13 | g.32340273A>G | CA387787527 | BRCA2 | c.5918A>G (p.Asn1973Ser) c.5549A>G (p.Asn1850Ser) n.5918A>G | |
| 13 | g.32340273A>T | CA387787528 | BRCA2 | c.5918A>T (p.Asn1973Ile) c.5549A>T (p.Asn1850Ile) n.5918A>T | ClinVar dbSNP |
| 13 | g.32340273_32340274delinsAT | CA2082828975 | BRCA2 | c.5918_5919delinsAT (p.Asn1973=) c.5549_5550delinsAT (p.Asn1850=) n.5918_5919delinsAT | |
| 13 | g.32340274del | CA10589337 | BRCA2 | c.5919del (p.Asn1973LysfsTer?) c.5550del (p.Asn1850LysfsTer?) n.5919del | ClinVar dbSNP |
| 13 | g.32340274T>A | CA387787529 | BRCA2 | c.5919T>A (p.Asn1973Lys) c.5550T>A (p.Asn1850Lys) n.5919T>A | dbSNP |
| 13 | g.32340274T>C | CA023366 | BRCA2 | c.5919T>C (p.Asn1973=) c.5550T>C (p.Asn1850=) n.5919T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340274T>G | CA387787530 | BRCA2 | c.5919T>G (p.Asn1973Lys) c.5550T>G (p.Asn1850Lys) n.5919T>G | dbSNP |
| 13 | g.32340274T= | CA2082828980 | BRCA2 | c.5919T= (p.Asn1973=) c.5550T= (p.Asn1850=) n.5919T= | |
| 13 | g.32340275A>C | CA387787533 | BRCA2 | c.5920A>C (p.Thr1974Pro) c.5551A>C (p.Thr1851Pro) n.5920A>C | dbSNP |
| 13 | g.32340275A>G | CA387787531 | BRCA2 | c.5920A>G (p.Thr1974Ala) c.5551A>G (p.Thr1851Ala) n.5920A>G | dbSNP |
| 13 | g.32340275A>T | CA387787532 | BRCA2 | c.5920A>T (p.Thr1974Ser) c.5551A>T (p.Thr1851Ser) n.5920A>T | dbSNP |
| 13 | g.32340276C>A | CA387787534 | BRCA2 | c.5921C>A (p.Thr1974Asn) c.5552C>A (p.Thr1851Asn) n.5921C>A | dbSNP |
| 13 | g.32340276C= | CA2082828984 | BRCA2 | c.5921C= (p.Thr1974=) c.5552C= (p.Thr1851=) n.5921C= | |
| 13 | g.32340276C>G | CA387787535 | BRCA2 | c.5921C>G (p.Thr1974Ser) c.5552C>G (p.Thr1851Ser) n.5921C>G | ClinVar dbSNP |
| 13 | g.32340276C>T | CA023368 | BRCA2 | c.5921C>T (p.Thr1974Ile) c.5552C>T (p.Thr1851Ile) n.5921C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340276dup | CA913188520 | BRCA2 | c.5921dup (p.Cys1975LeufsTer5) c.5552dup (p.Cys1852LeufsTer5) n.5921dup | |
| 13 | g.32340277T>A | CA483439080 | BRCA2 | c.5922T>A (p.Thr1974=) c.5553T>A (p.Thr1851=) n.5922T>A | dbSNP |
| 13 | g.32340277T>C | CA023370 | BRCA2 | c.5922T>C (p.Thr1974=) c.5553T>C (p.Thr1851=) n.5922T>C | ClinVar dbSNP gnomAD v4 |