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.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 | ClinVar 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 |
13 | g.32340277T>G | CA483439081 | BRCA2 | c.5922T>G (p.Thr1974=) c.5553T>G (p.Thr1851=) n.5922T>G | |
13 | g.32340277T= | CA2082828991 | BRCA2 | c.5922T= (p.Thr1974=) c.5553T= (p.Thr1851=) n.5922T= | |
13 | g.32340278T>A | CA387787536 | BRCA2 | c.5923T>A (p.Cys1975Ser) c.5554T>A (p.Cys1852Ser) n.5923T>A | dbSNP |
13 | g.32340278T>C | CA387787537 | BRCA2 | c.5923T>C (p.Cys1975Arg) c.5554T>C (p.Cys1852Arg) n.5923T>C | ClinVar dbSNP |
13 | g.32340278T>G | CA387787538 | BRCA2 | c.5923T>G (p.Cys1975Gly) c.5554T>G (p.Cys1852Gly) n.5923T>G | dbSNP |
13 | g.32340278T= | CA2082828994 | BRCA2 | c.5923T= (p.Cys1975=) c.5554T= (p.Cys1852=) n.5923T= | |
13 | g.32340279G>A | CA387787539 | BRCA2 | c.5924G>A (p.Cys1975Tyr) c.5555G>A (p.Cys1852Tyr) n.5924G>A | ClinVar dbSNP gnomAD v4 |
13 | g.32340279G>C | CA6940912 | BRCA2 | c.5924G>C (p.Cys1975Ser) c.5555G>C (p.Cys1852Ser) n.5924G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340279G= | CA2082829006 | BRCA2 | c.5924G= (p.Cys1975=) c.5555G= (p.Cys1852=) n.5924G= | |
13 | g.32340279G>T | CA387787540 | BRCA2 | c.5924G>T (p.Cys1975Phe) c.5555G>T (p.Cys1852Phe) n.5924G>T | dbSNP |
13 | g.32340279dup | CA919242598 | BRCA2 | c.5924dup (p.Cys1975TrpfsTer5) c.5555dup (p.Cys1852TrpfsTer5) n.5924dup | dbSNP |
13 | g.32340279_32340280delinsGT | CA2082829017 | BRCA2 | c.5924_5925delinsGT (p.Cys1975=) c.5555_5556delinsGT (p.Cys1852=) n.5924_5925delinsGT | |
13 | g.32340280del | CA658683862 | BRCA2 | c.5925del (p.Cys1975TrpfsTer29) c.5556del (p.Cys1852TrpfsTer29) n.5925del | ClinVar dbSNP |
13 | g.32340280T>A | CA023372 | BRCA2 | c.5925T>A (p.Cys1975Ter) c.5556T>A (p.Cys1852Ter) n.5925T>A | ClinVar dbSNP |
13 | g.32340280T>C | CA6940913 | BRCA2 | c.5925T>C (p.Cys1975=) c.5556T>C (p.Cys1852=) n.5925T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340280T>G | CA023374 | BRCA2 | c.5925T>G (p.Cys1975Trp) c.5556T>G (p.Cys1852Trp) n.5925T>G | ClinVar dbSNP |
13 | g.32340280T= | CA2082829039 | BRCA2 | c.5925T= (p.Cys1975=) c.5556T= (p.Cys1852=) n.5925T= | |
13 | g.32340280_32340281delinsTG | CA2082829028 | BRCA2 | c.5925_5926delinsTG (p.Cys1975=) c.5556_5557delinsTG (p.Cys1852=) n.5925_5926delinsTG | |
13 | g.32340281G>A | CA023376 | BRCA2 | c.5926G>A (p.Gly1976Arg) c.5557G>A (p.Gly1853Arg) n.5926G>A | ClinVar dbSNP |
13 | g.32340281G>C | CA387787541 | BRCA2 | c.5926G>C (p.Gly1976Arg) c.5557G>C (p.Gly1853Arg) n.5926G>C | dbSNP |