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.32340398_32341353del | CA2582073544 | BRCA2 | c.6043_6841+157del c.5674_6472+157del n.6043_6841+157del | |
13 | g.32340722_32340723delinsGA | CA2082813813 | BRCA2 | c.6367_6368delinsGA (p.Glu2123=) c.5998_5999delinsGA (p.Glu2000=) n.6367_6368delinsGA | |
13 | g.32340722_32340725dup | CA196587 | BRCA2 | c.6367_6370dup (p.Lys2124ArgfsTer6) c.5998_6001dup (p.Lys2001ArgfsTer6) n.6367_6370dup | ClinVar dbSNP |
13 | g.32340723A>C | CA387789164 | BRCA2 | c.6368A>C (p.Glu2123Ala) c.5999A>C (p.Glu2000Ala) n.6368A>C | |
13 | g.32340723A>G | CA387789165 | BRCA2 | c.6368A>G (p.Glu2123Gly) c.5999A>G (p.Glu2000Gly) n.6368A>G | ClinVar dbSNP |
13 | g.32340723A>T | CA387789166 | BRCA2 | c.6368A>T (p.Glu2123Val) c.5999A>T (p.Glu2000Val) n.6368A>T | dbSNP |
13 | g.32340728dup | CA023957 | BRCA2 | c.6373dup (p.Thr2125AsnfsTer4) c.6004dup (p.Thr2002AsnfsTer4) n.6373dup | ClinVar dbSNP gnomAD v4 |
13 | g.32340727_32340728dup | CA10589372 | BRCA2 | c.6372_6373dup (p.Thr2125LysfsTer13) c.6003_6004dup (p.Thr2002LysfsTer13) n.6372_6373dup | ClinVar dbSNP |
13 | g.32340728del | CA023958 | BRCA2 | c.6373del (p.Thr2125ProfsTer12) c.6004del (p.Thr2002ProfsTer12) n.6373del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32340724A= | CA2082813832 | BRCA2 | c.6369A= (p.Glu2123=) c.6000A= (p.Glu2000=) n.6369A= | |
13 | g.32340724A>C | CA16619742 | BRCA2 | c.6369A>C (p.Glu2123Asp) c.6000A>C (p.Glu2000Asp) n.6369A>C | ClinVar dbSNP gnomAD v4 |
13 | g.32340724A>G | CA483438832 | BRCA2 | c.6369A>G (p.Glu2123=) c.6000A>G (p.Glu2000=) n.6369A>G | ClinVar |
13 | g.32340724A>T | CA387789167 | BRCA2 | c.6369A>T (p.Glu2123Asp) c.6000A>T (p.Glu2000Asp) n.6369A>T | dbSNP |
13 | g.32340725A>C | CA387789170 | BRCA2 | c.6370A>C (p.Lys2124Gln) c.6001A>C (p.Lys2001Gln) n.6370A>C | |
13 | g.32340725A>G | CA387789169 | BRCA2 | c.6370A>G (p.Lys2124Glu) c.6001A>G (p.Lys2001Glu) n.6370A>G | |
13 | g.32340725A>T | CA387789168 | BRCA2 | c.6370A>T (p.Lys2124Ter) c.6001A>T (p.Lys2001Ter) n.6370A>T | dbSNP |
13 | g.32340726A>C | CA387789172 | BRCA2 | c.6371A>C (p.Lys2124Thr) c.6002A>C (p.Lys2001Thr) n.6371A>C | ClinVar |
13 | g.32340726A>G | CA387789171 | BRCA2 | c.6371A>G (p.Lys2124Arg) c.6002A>G (p.Lys2001Arg) n.6371A>G | dbSNP |
13 | g.32340726A>T | CA387789173 | BRCA2 | c.6371A>T (p.Lys2124Ile) c.6002A>T (p.Lys2001Ile) n.6371A>T | dbSNP |
13 | g.32340727A= | CA2082813839 | BRCA2 | c.6372A= (p.Lys2124=) c.6003A= (p.Lys2001=) n.6372A= | |
13 | g.32340727A>C | CA387789174 | BRCA2 | c.6372A>C (p.Lys2124Asn) c.6003A>C (p.Lys2001Asn) n.6372A>C | ClinVar dbSNP gnomAD v4 |
13 | g.32340727A>G | CA483438833 | BRCA2 | c.6372A>G (p.Lys2124=) c.6003A>G (p.Lys2001=) n.6372A>G | |
13 | g.32340727A>T | CA387789175 | BRCA2 | c.6372A>T (p.Lys2124Asn) c.6003A>T (p.Lys2001Asn) n.6372A>T | |
13 | g.32340727_32340729delinsAAC | CA2082813836 | BRCA2 | c.6372_6374delinsAAC (p.Lys2124=) c.6003_6005delinsAAC (p.Lys2001=) n.6372_6374delinsAAC | |
13 | g.32340728A>C | CA387789176 | BRCA2 | c.6373A>C (p.Thr2125Pro) c.6004A>C (p.Thr2002Pro) n.6373A>C | dbSNP |
13 | g.32340728A>G | CA387789177 | BRCA2 | c.6373A>G (p.Thr2125Ala) c.6004A>G (p.Thr2002Ala) n.6373A>G | dbSNP |
13 | g.32340728A>T | CA387789178 | BRCA2 | c.6373A>T (p.Thr2125Ser) c.6004A>T (p.Thr2002Ser) n.6373A>T | ClinVar dbSNP gnomAD v4 |
13 | g.32340728_32340729delinsG | CA645509067 | BRCA2 | c.6373_6374delinsG (p.Thr2125AlafsTer12) c.6004_6005delinsG (p.Thr2002AlafsTer12) n.6373_6374delinsG | ClinVar dbSNP |
13 | g.32340728_32340730delinsG | CA2499222231 | BRCA2 | c.6373_6375delinsG (p.Thr2125ValfsTer3) c.6004_6006delinsG (p.Thr2002ValfsTer3) n.6373_6375delinsG | |
13 | g.32340728_32340729insT | CA2580087898 | BRCA2 | c.6373_6374insT (p.Thr2125IlefsTer4) c.6004_6005insT (p.Thr2002IlefsTer4) n.6373_6374insT | ClinVar |
13 | g.32340729C>A | CA6940946 | BRCA2 | c.6374C>A (p.Thr2125Asn) c.6005C>A (p.Thr2002Asn) n.6374C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340729C= | CA2082813853 | BRCA2 | c.6374C= (p.Thr2125=) c.6005C= (p.Thr2002=) n.6374C= | |
13 | g.32340729C>G | CA387789179 | BRCA2 | c.6374C>G (p.Thr2125Ser) c.6005C>G (p.Thr2002Ser) n.6374C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32340729C>T | CA023963 | BRCA2 | c.6374C>T (p.Thr2125Ile) c.6005C>T (p.Thr2002Ile) n.6374C>T | ClinVar dbSNP |
13 | g.32340729_32340730insA | CA023961 | BRCA2 | c.6374_6375insA (p.Cys2126LeufsTer3) c.6005_6006insA (p.Cys2003LeufsTer3) n.6374_6375insA | ClinVar dbSNP |
13 | g.32340730C>A | CA483438836 | BRCA2 | c.6375C>A (p.Thr2125=) c.6006C>A (p.Thr2002=) n.6375C>A | ClinVar dbSNP |
13 | g.32340730C= | CA2082813867 | BRCA2 | c.6375C= (p.Thr2125=) c.6006C= (p.Thr2002=) n.6375C= | |
13 | g.32340730C>G | CA483438835 | BRCA2 | c.6375C>G (p.Thr2125=) c.6006C>G (p.Thr2002=) n.6375C>G | ClinVar dbSNP |
13 | g.32340730C>T | CA483438834 | BRCA2 | c.6375C>T (p.Thr2125=) c.6006C>T (p.Thr2002=) n.6375C>T | dbSNP |
13 | g.32340731T>A | CA387789182 | BRCA2 | c.6376T>A (p.Cys2126Ser) c.6007T>A (p.Cys2003Ser) n.6376T>A | ClinVar dbSNP |
13 | g.32340731T>C | CA387789180 | BRCA2 | c.6376T>C (p.Cys2126Arg) c.6007T>C (p.Cys2003Arg) n.6376T>C | dbSNP |
13 | g.32340731T>G | CA387789181 | BRCA2 | c.6376T>G (p.Cys2126Gly) c.6007T>G (p.Cys2003Gly) n.6376T>G | |
13 | g.32340731T= | CA2082813887 | BRCA2 | c.6376T= (p.Cys2126=) c.6007T= (p.Cys2003=) n.6376T= | |
13 | g.32340732G>A | CA387789183 | BRCA2 | c.6377G>A (p.Cys2126Tyr) c.6008G>A (p.Cys2003Tyr) n.6377G>A | ClinVar dbSNP |
13 | g.32340732G>C | CA387789184 | BRCA2 | c.6377G>C (p.Cys2126Ser) c.6008G>C (p.Cys2003Ser) n.6377G>C | ClinVar dbSNP |
13 | g.32340732G>T | CA387789185 | BRCA2 | c.6377G>T (p.Cys2126Phe) c.6008G>T (p.Cys2003Phe) n.6377G>T | dbSNP |
13 | g.32340733C>A | CA387789186 | BRCA2 | c.6378C>A (p.Cys2126Ter) c.6009C>A (p.Cys2003Ter) n.6378C>A | dbSNP |
13 | g.32340733C>G | CA387789187 | BRCA2 | c.6378C>G (p.Cys2126Trp) c.6009C>G (p.Cys2003Trp) n.6378C>G | dbSNP |
13 | g.32340733C>T | CA483438837 | BRCA2 | c.6378C>T (p.Cys2126=) c.6009C>T (p.Cys2003=) n.6378C>T | dbSNP gnomAD v4 |