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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| 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.32340705_32340713del | CA2622599890 | BRCA2 | c.6350_6358del (p.Cys2117_Asn2119del) c.5981_5989del (p.Cys1994_Asn1996del) n.6350_6358del | gnomAD v4 |
| 13 | g.32340705_32340719delinsGTGTAAACTCAGAAA | CA2082813625 | BRCA2 | c.6350_6364delinsGTGTAAACTCAGAAA (p.Cys2117=) c.5981_5995delinsGTGTAAACTCAGAAA (p.Cys1994=) n.6350_6364delinsGTGTAAACTCAGAAA | |
| 13 | g.32340708_32340721del | CA023946 | BRCA2 | c.6353_6366del (p.Val2118GlyfsTer6) c.5984_5997del (p.Val1995GlyfsTer6) n.6353_6366del | ClinVar dbSNP |
| 13 | g.32340709A>C | CA483438824 | BRCA2 | c.6354A>C (p.Val2118=) c.5985A>C (p.Val1995=) n.6354A>C | |
| 13 | g.32340709A>G | CA483438825 | BRCA2 | c.6354A>G (p.Val2118=) c.5985A>G (p.Val1995=) n.6354A>G | |
| 13 | g.32340709A>T | CA483438826 | BRCA2 | c.6354A>T (p.Val2118=) c.5985A>T (p.Val1995=) n.6354A>T | dbSNP |
| 13 | g.32340711dup | CA10589371 | BRCA2 | c.6356dup (p.Asn2119LysfsTer10) c.5987dup (p.Asn1996LysfsTer10) n.6356dup | ClinVar dbSNP |
| 13 | g.32340711del | CA2840388445 | BRCA2 | c.6356del (p.Asn2119ThrfsTer18) c.5987del (p.Asn1996ThrfsTer18) n.6356del | |
| 13 | g.32340710_32340711del | CA2573149191 | BRCA2 | c.6355_6356del (p.Asn2119LeufsTer9) c.5986_5987del (p.Asn1996LeufsTer9) n.6355_6356del | ClinVar dbSNP |
| 13 | g.32340709_32340712delinsAAAC | CA2082813667 | BRCA2 | c.6354_6357delinsAAAC (p.Val2118=) c.5985_5988delinsAAAC (p.Val1995=) n.6354_6357delinsAAAC | |
| 13 | g.32340709_32340710insG | CA1139768339 | BRCA2 | c.6354_6355insG (p.Asn2119GlufsTer10) c.5985_5986insG (p.Asn1996GlufsTer10) n.6354_6355insG | |
| 13 | g.32340710A>C | CA387789134 | BRCA2 | c.6355A>C (p.Asn2119His) c.5986A>C (p.Asn1996His) n.6355A>C | |
| 13 | g.32340710A>G | CA387789135 | BRCA2 | c.6355A>G (p.Asn2119Asp) c.5986A>G (p.Asn1996Asp) n.6355A>G | |
| 13 | g.32340710A>T | CA387789136 | BRCA2 | c.6355A>T (p.Asn2119Tyr) c.5986A>T (p.Asn1996Tyr) n.6355A>T | dbSNP |
| 13 | g.32340710_32340712delinsT | CA658656330 | BRCA2 | c.6355_6357delinsT (p.Asn2119PhefsTer9) c.5986_5988delinsT (p.Asn1996PhefsTer9) n.6355_6357delinsT | ClinVar dbSNP |
| 13 | g.32340711A= | CA2082813679 | BRCA2 | c.6356A= (p.Asn2119=) c.5987A= (p.Asn1996=) n.6356A= | |
| 13 | g.32340711A>C | CA387789137 | BRCA2 | c.6356A>C (p.Asn2119Thr) c.5987A>C (p.Asn1996Thr) n.6356A>C | |
| 13 | g.32340711A>G | CA387789138 | BRCA2 | c.6356A>G (p.Asn2119Ser) c.5987A>G (p.Asn1996Ser) n.6356A>G | |
| 13 | g.32340711A>T | CA387789139 | BRCA2 | c.6356A>T (p.Asn2119Ile) c.5987A>T (p.Asn1996Ile) n.6356A>T | ClinVar dbSNP |
| 13 | g.32340712C>A | CA387789140 | BRCA2 | c.6357C>A (p.Asn2119Lys) c.5988C>A (p.Asn1996Lys) n.6357C>A | dbSNP |
| 13 | g.32340712C= | CA2082813690 | BRCA2 | c.6357C= (p.Asn2119=) c.5988C= (p.Asn1996=) n.6357C= | |
| 13 | g.32340712C>G | CA16619741 | BRCA2 | c.6357C>G (p.Asn2119Lys) c.5988C>G (p.Asn1996Lys) n.6357C>G | ClinVar dbSNP gnomAD v2 |
| 13 | g.32340712C>T | CA483438827 | BRCA2 | c.6357C>T (p.Asn2119=) c.5988C>T (p.Asn1996=) n.6357C>T | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32340713T>A | CA387789141 | BRCA2 | c.6358T>A (p.Ser2120Thr) c.5989T>A (p.Ser1997Thr) n.6358T>A | dbSNP COSMIC COSMIC |
| 13 | g.32340713T>C | CA387789143 | BRCA2 | c.6358T>C (p.Ser2120Pro) c.5989T>C (p.Ser1997Pro) n.6358T>C | dbSNP |
| 13 | g.32340713T>G | CA387789142 | BRCA2 | c.6358T>G (p.Ser2120Ala) c.5989T>G (p.Ser1997Ala) n.6358T>G | |
| 13 | g.32340714C>A | CA387789144 | BRCA2 | c.6359C>A (p.Ser2120Ter) c.5990C>A (p.Ser1997Ter) n.6359C>A | ClinVar |
| 13 | g.32340714C= | CA2082813709 | BRCA2 | c.6359C= (p.Ser2120=) c.5990C= (p.Ser1997=) n.6359C= | |
| 13 | g.32340714C>G | CA023950 | BRCA2 | c.6359C>G (p.Ser2120Ter) c.5990C>G (p.Ser1997Ter) n.6359C>G | ClinVar dbSNP |
| 13 | g.32340714C>T | CA387789145 | BRCA2 | c.6359C>T (p.Ser2120Leu) c.5990C>T (p.Ser1997Leu) n.6359C>T | dbSNP gnomAD v2 |
| 13 | g.32340714_32340716delinsCAG | CA2082813706 | BRCA2 | c.6359_6361delinsCAG (p.Ser2120=) c.5990_5992delinsCAG (p.Ser1997=) n.6359_6361delinsCAG | |
| 13 | g.32340714_32340720delinsCAGAAAT | CA2082813707 | BRCA2 | c.6359_6365delinsCAGAAAT (p.Ser2120=) c.5990_5996delinsCAGAAAT (p.Ser1997=) n.6359_6365delinsCAGAAAT | |
| 13 | g.32340715A>C | CA483438829 | BRCA2 | c.6360A>C (p.Ser2120=) c.5991A>C (p.Ser1997=) n.6360A>C | |
| 13 | g.32340715A>G | CA483438828 | BRCA2 | c.6360A>G (p.Ser2120=) c.5991A>G (p.Ser1997=) n.6360A>G | dbSNP |
| 13 | g.32340715A>T | CA483438830 | BRCA2 | c.6360A>T (p.Ser2120=) c.5991A>T (p.Ser1997=) n.6360A>T | dbSNP |
| 13 | g.32340716_32340717del | CA10586555 | BRCA2 | c.6361_6362del (p.Glu2121AsnfsTer7) c.5992_5993del (p.Glu1998AsnfsTer7) n.6361_6362del | ClinVar dbSNP |
| 13 | g.32340715_32340720del | CA658656331 | BRCA2 | c.6360_6365del (p.Glu2121_Met2122del) c.5991_5996del (p.Glu1998_Met1999del) n.6360_6365del | ClinVar dbSNP |
| 13 | g.32340716del | CA2622599894 | BRCA2 | c.6361del (p.Glu2121LysfsTer16) c.5992del (p.Glu1998LysfsTer16) n.6361del | gnomAD v4 |
| 13 | g.32340716G>A | CA023952 | BRCA2 | c.6361G>A (p.Glu2121Lys) c.5992G>A (p.Glu1998Lys) n.6361G>A | ClinVar dbSNP gnomAD v2 |
| 13 | g.32340716G>C | CA387789146 | BRCA2 | c.6361G>C (p.Glu2121Gln) c.5992G>C (p.Glu1998Gln) n.6361G>C | dbSNP gnomAD v4 |
| 13 | g.32340716G= | CA2082813728 | BRCA2 | c.6361G= (p.Glu2121=) c.5992G= (p.Glu1998=) n.6361G= | |
| 13 | g.32340716G>T | CA387789147 | BRCA2 | c.6361G>T (p.Glu2121Ter) c.5992G>T (p.Glu1998Ter) n.6361G>T | ClinVar |
| 13 | g.32340717A= | CA2082813739 | BRCA2 | c.6362A= (p.Glu2121=) c.5993A= (p.Glu1998=) n.6362A= | |
| 13 | g.32340717A>C | CA387789149 | BRCA2 | c.6362A>C (p.Glu2121Ala) c.5993A>C (p.Glu1998Ala) n.6362A>C | |
| 13 | g.32340717A>G | CA023954 | BRCA2 | c.6362A>G (p.Glu2121Gly) c.5993A>G (p.Glu1998Gly) n.6362A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340717A>T | CA387789148 | BRCA2 | c.6362A>T (p.Glu2121Val) c.5993A>T (p.Glu1998Val) n.6362A>T | dbSNP |
| 13 | g.32340718A= | CA2082813749 | BRCA2 | c.6363A= (p.Glu2121=) c.5994A= (p.Glu1998=) n.6363A= | |
| 13 | g.32340718A>C | CA387789150 | BRCA2 | c.6363A>C (p.Glu2121Asp) c.5994A>C (p.Glu1998Asp) n.6363A>C | ClinVar |
| 13 | g.32340718A>G | CA483438831 | BRCA2 | c.6363A>G (p.Glu2121=) c.5994A>G (p.Glu1998=) n.6363A>G | ClinVar dbSNP |
| 13 | g.32340718A>T | CA387789151 | BRCA2 | c.6363A>T (p.Glu2121Asp) c.5994A>T (p.Glu1998Asp) n.6363A>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340719A= | CA2082813766 | BRCA2 | c.6364A= (p.Met2122=) c.5995A= (p.Met1999=) n.6364A= | |
| 13 | g.32340719A>C | CA387789152 | BRCA2 | c.6364A>C (p.Met2122Leu) c.5995A>C (p.Met1999Leu) n.6364A>C | |
| 13 | g.32340719A>G | CA387789153 | BRCA2 | c.6364A>G (p.Met2122Val) c.5995A>G (p.Met1999Val) n.6364A>G | ClinVar dbSNP |
| 13 | g.32340719A>T | CA387789154 | BRCA2 | c.6364A>T (p.Met2122Leu) c.5995A>T (p.Met1999Leu) n.6364A>T | |
| 13 | g.32340720T>A | CA387789155 | BRCA2 | c.6365T>A (p.Met2122Lys) c.5996T>A (p.Met1999Lys) n.6365T>A | ClinVar dbSNP |
| 13 | g.32340720T>C | CA387789157 | BRCA2 | c.6365T>C (p.Met2122Thr) c.5996T>C (p.Met1999Thr) n.6365T>C | ClinVar dbSNP |
| 13 | g.32340720T>G | CA387789156 | BRCA2 | c.6365T>G (p.Met2122Arg) c.5996T>G (p.Met1999Arg) n.6365T>G | dbSNP gnomAD v4 |
| 13 | g.32340720T= | CA2082813775 | BRCA2 | c.6365T= (p.Met2122=) c.5996T= (p.Met1999=) n.6365T= | |
| 13 | g.32340721G>A | CA387789158 | BRCA2 | c.6366G>A (p.Met2122Ile) c.5997G>A (p.Met1999Ile) n.6366G>A | ClinVar dbSNP |
| 13 | g.32340721G>C | CA387789159 | BRCA2 | c.6366G>C (p.Met2122Ile) c.5997G>C (p.Met1999Ile) n.6366G>C | dbSNP |
| 13 | g.32340721G= | CA2082813801 | BRCA2 | c.6366G= (p.Met2122=) c.5997G= (p.Met1999=) n.6366G= | |
| 13 | g.32340721G>T | CA387789160 | BRCA2 | c.6366G>T (p.Met2122Ile) c.5997G>T (p.Met1999Ile) n.6366G>T | |
| 13 | g.32340721_32340722insA | CA919242694 | BRCA2 | c.6366_6367insA (p.Glu2123ArgfsTer6) c.5997_5998insA (p.Glu2000ArgfsTer6) n.6366_6367insA | dbSNP |
| 13 | g.32340722G>A | CA387789161 | BRCA2 | c.6367G>A (p.Glu2123Lys) c.5998G>A (p.Glu2000Lys) n.6367G>A | dbSNP COSMIC COSMIC |
| 13 | g.32340722G>C | CA387789162 | BRCA2 | c.6367G>C (p.Glu2123Gln) c.5998G>C (p.Glu2000Gln) n.6367G>C | ClinVar dbSNP |
| 13 | g.32340722G>T | CA387789163 | BRCA2 | c.6367G>T (p.Glu2123Ter) c.5998G>T (p.Glu2000Ter) n.6367G>T | dbSNP |
| 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 | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340733_32340734delinsCA | CA2082813893 | BRCA2 | c.6378_6379delinsCA (p.Cys2126=) c.6009_6010delinsCA (p.Cys2003=) n.6378_6379delinsCA | |
| 13 | g.32340734del | CA16619743 | BRCA2 | c.6379del (p.Ser2127ValfsTer10) c.6010del (p.Ser2004ValfsTer10) n.6379del | ClinVar dbSNP |
| 13 | g.32340734A= | CA2082813901 | BRCA2 | c.6379A= (p.Ser2127=) c.6010A= (p.Ser2004=) n.6379A= | |
| 13 | g.32340734A>C | CA10579692 | BRCA2 | c.6379A>C (p.Ser2127Arg) c.6010A>C (p.Ser2004Arg) n.6379A>C | ClinVar dbSNP |
| 13 | g.32340734A>G | CA387789188 | BRCA2 | c.6379A>G (p.Ser2127Gly) c.6010A>G (p.Ser2004Gly) n.6379A>G | |
| 13 | g.32340734A>T | CA387789189 | BRCA2 | c.6379A>T (p.Ser2127Cys) c.6010A>T (p.Ser2004Cys) n.6379A>T | dbSNP |
| 13 | g.32340735G>A | CA387789190 | BRCA2 | c.6380G>A (p.Ser2127Asn) c.6011G>A (p.Ser2004Asn) n.6380G>A | dbSNP |
| 13 | g.32340735G>C | CA387789191 | BRCA2 | c.6380G>C (p.Ser2127Thr) c.6011G>C (p.Ser2004Thr) n.6380G>C | |
| 13 | g.32340735G>T | CA387789192 | BRCA2 | c.6380G>T (p.Ser2127Ile) c.6011G>T (p.Ser2004Ile) n.6380G>T | |
| 13 | g.32340736T>A | CA387789194 | BRCA2 | c.6381T>A (p.Ser2127Arg) c.6012T>A (p.Ser2004Arg) n.6381T>A | |
| 13 | g.32340736T>C | CA483438838 | BRCA2 | c.6381T>C (p.Ser2127=) c.6012T>C (p.Ser2004=) n.6381T>C | |
| 13 | g.32340736T>G | CA387789193 | BRCA2 | c.6381T>G (p.Ser2127Arg) c.6012T>G (p.Ser2004Arg) n.6381T>G | dbSNP |
| 13 | g.32340736_32340737insTT | CA2499222232 | BRCA2 | c.6381_6382insTT (p.Lys2128LeufsTer10) c.6012_6013insTT (p.Lys2005LeufsTer10) n.6381_6382insTT | |
| 13 | g.32340736_32340741delinsTAAAGA | CA2082813911 | BRCA2 | c.6381_6386delinsTAAAGA (p.Ser2127=) c.6012_6017delinsTAAAGA (p.Ser2004=) n.6381_6386delinsTAAAGA | |
| 13 | g.32340737A= | CA2082813923 | BRCA2 | c.6382A= (p.Lys2128=) c.6013A= (p.Lys2005=) n.6382A= | |
| 13 | g.32340737A>C | CA387789195 | BRCA2 | c.6382A>C (p.Lys2128Gln) c.6013A>C (p.Lys2005Gln) n.6382A>C | |
| 13 | g.32340737A>G | CA6940947 | BRCA2 | c.6382A>G (p.Lys2128Glu) c.6013A>G (p.Lys2005Glu) n.6382A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340737A>T | CA023965 | BRCA2 | c.6382A>T (p.Lys2128Ter) c.6013A>T (p.Lys2005Ter) n.6382A>T | ClinVar dbSNP |
| 13 | g.32340738_32340742del | CA919242697 | BRCA2 | c.6383_6387del (p.Lys2128IlefsTer2) c.6014_6018del (p.Lys2005IlefsTer2) n.6383_6387del | ClinVar dbSNP |
| 13 | g.32340738A= | CA2082813927 | BRCA2 | c.6383A= (p.Lys2128=) c.6014A= (p.Lys2005=) n.6383A= | |
| 13 | g.32340738A>C | CA023967 | BRCA2 | c.6383A>C (p.Lys2128Thr) c.6014A>C (p.Lys2005Thr) n.6383A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340738A>G | CA387789196 | BRCA2 | c.6383A>G (p.Lys2128Arg) c.6014A>G (p.Lys2005Arg) n.6383A>G | dbSNP |
| 13 | g.32340738A>T | CA387789197 | BRCA2 | c.6383A>T (p.Lys2128Ile) c.6014A>T (p.Lys2005Ile) n.6383A>T | dbSNP |
| 13 | g.32340740_32340742del | CA2580087901 | BRCA2 | c.6385_6387del (p.Glu2129del) c.6016_6018del (p.Glu2006del) n.6385_6387del | ClinVar |
| 13 | g.32340739A= | CA2082813940 | BRCA2 | c.6384A= (p.Lys2128=) c.6015A= (p.Lys2005=) n.6384A= | |
| 13 | g.32340739A>C | CA023970 | BRCA2 | c.6384A>C (p.Lys2128Asn) c.6015A>C (p.Lys2005Asn) n.6384A>C | ClinVar dbSNP |
| 13 | g.32340739A>G | CA483438839 | BRCA2 | c.6384A>G (p.Lys2128=) c.6015A>G (p.Lys2005=) n.6384A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340739A>T | CA387789198 | BRCA2 | c.6384A>T (p.Lys2128Asn) c.6015A>T (p.Lys2005Asn) n.6384A>T | dbSNP |
| 13 | g.32340740G>A | CA387789199 | BRCA2 | c.6385G>A (p.Glu2129Lys) c.6016G>A (p.Glu2006Lys) n.6385G>A | dbSNP |
| 13 | g.32340740G>C | CA387789200 | BRCA2 | c.6385G>C (p.Glu2129Gln) c.6016G>C (p.Glu2006Gln) n.6385G>C | dbSNP |
| 13 | g.32340740G= | CA2082813947 | BRCA2 | c.6385G= (p.Glu2129=) c.6016G= (p.Glu2006=) n.6385G= | |
| 13 | g.32340740G>T | CA10589373 | BRCA2 | c.6385G>T (p.Glu2129Ter) c.6016G>T (p.Glu2006Ter) n.6385G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340741A= | CA2082813964 | BRCA2 | c.6386A= (p.Glu2129=) c.6017A= (p.Glu2006=) n.6386A= | |
| 13 | g.32340741A>C | CA387789201 | BRCA2 | c.6386A>C (p.Glu2129Ala) c.6017A>C (p.Glu2006Ala) n.6386A>C | |
| 13 | g.32340741A>G | CA387789202 | BRCA2 | c.6386A>G (p.Glu2129Gly) c.6017A>G (p.Glu2006Gly) n.6386A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32340741A>T | CA387789203 | BRCA2 | c.6386A>T (p.Glu2129Val) c.6017A>T (p.Glu2006Val) n.6386A>T | dbSNP gnomAD v4 |
| 13 | g.32340742del | CA2499222233 | BRCA2 | c.6387del (p.Glu2129AspfsTer8) c.6018del (p.Glu2006AspfsTer8) n.6387del | ClinVar dbSNP |
| 13 | g.32340743_32340747del | CA2573149192 | BRCA2 | c.6388_6392del (p.Phe2130IlefsTer4) c.6019_6023del (p.Phe2007IlefsTer4) n.6388_6392del | ClinVar dbSNP |
| 13 | g.32340741_32340750delinsAATTTAAATT | CA2082813967 | BRCA2 | c.6386_6395delinsAATTTAAATT (p.Glu2129=) c.6017_6026delinsAATTTAAATT (p.Glu2006=) n.6386_6395delinsAATTTAAATT | |
| 13 | g.32340742A= | CA2082813977 | BRCA2 | c.6387A= (p.Glu2129=) c.6018A= (p.Glu2006=) n.6387A= | |
| 13 | g.32340742A>C | CA387789205 | BRCA2 | c.6387A>C (p.Glu2129Asp) c.6018A>C (p.Glu2006Asp) n.6387A>C | |
| 13 | g.32340742A>G | CA483438840 | BRCA2 | c.6387A>G (p.Glu2129=) c.6018A>G (p.Glu2006=) n.6387A>G | ClinVar |
| 13 | g.32340742A>T | CA387789204 | BRCA2 | c.6387A>T (p.Glu2129Asp) c.6018A>T (p.Glu2006Asp) n.6387A>T | ClinVar dbSNP |
| 13 | g.32340742_32340750delinsTTTA | CA915948507 | BRCA2 | c.6387_6395delinsTTTA (p.Glu2129AspfsTer5) c.6018_6026delinsTTTA (p.Glu2006AspfsTer5) n.6387_6395delinsTTTA | ClinVar dbSNP |
| 13 | g.32340743T>A | CA387789206 | BRCA2 | c.6388T>A (p.Phe2130Ile) c.6019T>A (p.Phe2007Ile) n.6388T>A | ClinVar dbSNP |
| 13 | g.32340743T>C | CA16613994 | BRCA2 | c.6388T>C (p.Phe2130Leu) c.6019T>C (p.Phe2007Leu) n.6388T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340743T>G | CA387789207 | BRCA2 | c.6388T>G (p.Phe2130Val) c.6019T>G (p.Phe2007Val) n.6388T>G | dbSNP |
| 13 | g.32340743T= | CA2082813985 | BRCA2 | c.6388T= (p.Phe2130=) c.6019T= (p.Phe2007=) n.6388T= | |
| 13 | g.32340745dup | CA023972 | BRCA2 | c.6390dup (p.Lys2131Ter) c.6021dup (p.Lys2008Ter) n.6390dup | ClinVar dbSNP |
| 13 | g.32340745del | CA913189206 | BRCA2 | c.6390del (p.Phe2130LeufsTer7) c.6021del (p.Phe2007LeufsTer7) n.6390del | |
| 13 | g.32340743_32340748delinsTTTAAA | CA2082813982 | BRCA2 | c.6388_6393delinsTTTAAA (p.Phe2130=) c.6019_6024delinsTTTAAA (p.Phe2007=) n.6388_6393delinsTTTAAA | |
| 13 | g.32340744T>A | CA387789208 | BRCA2 | c.6389T>A (p.Phe2130Tyr) c.6020T>A (p.Phe2007Tyr) n.6389T>A | dbSNP |
| 13 | g.32340744T>C | CA387789209 | BRCA2 | c.6389T>C (p.Phe2130Ser) c.6020T>C (p.Phe2007Ser) n.6389T>C | dbSNP |
| 13 | g.32340744T>G | CA387789210 | BRCA2 | c.6389T>G (p.Phe2130Cys) c.6020T>G (p.Phe2007Cys) n.6389T>G | ClinVar dbSNP |
| 13 | g.32340744T= | CA2082814001 | BRCA2 | c.6389T= (p.Phe2130=) c.6020T= (p.Phe2007=) n.6389T= | |
| 13 | g.32340747_32340751del | CA023976 | BRCA2 | c.6392_6396del (p.Lys2131IlefsTer3) c.6023_6027del (p.Lys2008IlefsTer3) n.6392_6396del | ClinVar dbSNP |
| 13 | g.32340745T>A | CA387789211 | BRCA2 | c.6390T>A (p.Phe2130Leu) c.6021T>A (p.Phe2007Leu) n.6390T>A | |
| 13 | g.32340745T>C | CA483438841 | BRCA2 | c.6390T>C (p.Phe2130=) c.6021T>C (p.Phe2007=) n.6390T>C | ClinVar dbSNP |
| 13 | g.32340745T>G | CA387789212 | BRCA2 | c.6390T>G (p.Phe2130Leu) c.6021T>G (p.Phe2007Leu) n.6390T>G | |
| 13 | g.32340745_32340746delinsTA | CA2082814007 | BRCA2 | c.6390_6391delinsTA (p.Phe2130=) c.6021_6022delinsTA (p.Phe2007=) n.6390_6391delinsTA | |
| 13 | g.32340746A= | CA2082814016 | BRCA2 | c.6391A= (p.Lys2131=) c.6022A= (p.Lys2008=) n.6391A= | |
| 13 | g.32340746A>C | CA387789213 | BRCA2 | c.6391A>C (p.Lys2131Gln) c.6022A>C (p.Lys2008Gln) n.6391A>C | ClinVar dbSNP |
| 13 | g.32340746A>G | CA387789214 | BRCA2 | c.6391A>G (p.Lys2131Glu) c.6022A>G (p.Lys2008Glu) n.6391A>G | dbSNP |
| 13 | g.32340746A>T | CA387789215 | BRCA2 | c.6391A>T (p.Lys2131Ter) c.6022A>T (p.Lys2008Ter) n.6391A>T | dbSNP |
| 13 | g.32340748del | CA10586556 | BRCA2 | c.6393del (p.Lys2131AsnfsTer6) c.6024del (p.Lys2008AsnfsTer6) n.6393del | ClinVar dbSNP |
| 13 | g.32340746_32340750delinsAAATT | CA2082814013 | BRCA2 | c.6391_6395delinsAAATT (p.Lys2131=) c.6022_6026delinsAAATT (p.Lys2008=) n.6391_6395delinsAAATT | |
| 13 | g.32340746_32340747insT | CA023974 | BRCA2 | c.6391_6392insT (p.Lys2131IlefsTer5) c.6022_6023insT (p.Lys2008IlefsTer5) n.6391_6392insT | ClinVar dbSNP |
| 13 | g.32340747A>C | CA387789217 | BRCA2 | c.6392A>C (p.Lys2131Thr) c.6023A>C (p.Lys2008Thr) n.6392A>C | |
| 13 | g.32340747A>G | CA387789218 | BRCA2 | c.6392A>G (p.Lys2131Arg) c.6023A>G (p.Lys2008Arg) n.6392A>G | |
| 13 | g.32340747A>T | CA387789216 | BRCA2 | c.6392A>T (p.Lys2131Ile) c.6023A>T (p.Lys2008Ile) n.6392A>T | ClinVar dbSNP |
| 13 | g.32340748_32340751del | CA023978 | BRCA2 | c.6393_6396del (p.Lys2131AsnfsTer5) c.6024_6027del (p.Lys2008AsnfsTer5) n.6393_6396del | ClinVar dbSNP |
| 13 | g.32340748A= | CA2082814031 | BRCA2 | c.6393A= (p.Lys2131=) c.6024A= (p.Lys2008=) n.6393A= | |
| 13 | g.32340748A>C | CA387789219 | BRCA2 | c.6393A>C (p.Lys2131Asn) c.6024A>C (p.Lys2008Asn) n.6393A>C | |
| 13 | g.32340748A>G | CA483438842 | BRCA2 | c.6393A>G (p.Lys2131=) c.6024A>G (p.Lys2008=) n.6393A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340748A>T | CA6940948 | BRCA2 | c.6393A>T (p.Lys2131Asn) c.6024A>T (p.Lys2008Asn) n.6393A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340748_32340749insAT | CA2837995341 | BRCA2 | c.6393_6394insAT (p.Leu2132IlefsTer6) c.6024_6025insAT (p.Leu2009IlefsTer6) n.6393_6394insAT | |
| 13 | g.32340749T>A | CA387789220 | BRCA2 | c.6394T>A (p.Leu2132Ile) c.6025T>A (p.Leu2009Ile) n.6394T>A | dbSNP |
| 13 | g.32340749T>C | CA483438843 | BRCA2 | c.6394T>C (p.Leu2132=) c.6025T>C (p.Leu2009=) n.6394T>C | dbSNP |
| 13 | g.32340749T>G | CA387789221 | BRCA2 | c.6394T>G (p.Leu2132Val) c.6025T>G (p.Leu2009Val) n.6394T>G | dbSNP |
| 13 | g.32340750T>A | CA387789222 | BRCA2 | c.6395T>A (p.Leu2132Ter) c.6026T>A (p.Leu2009Ter) n.6395T>A | dbSNP |
| 13 | g.32340750T>C | CA387789223 | BRCA2 | c.6395T>C (p.Leu2132Ser) c.6026T>C (p.Leu2009Ser) n.6395T>C | |
| 13 | g.32340750T>G | CA387789224 | BRCA2 | c.6395T>G (p.Leu2132Ter) c.6026T>G (p.Leu2009Ter) n.6395T>G | ClinVar dbSNP |
| 13 | g.32340750T= | CA2082814040 | BRCA2 | c.6395T= (p.Leu2132=) c.6026T= (p.Leu2009=) n.6395T= | |
| 13 | g.32340751A= | CA2082814047 | BRCA2 | c.6396A= (p.Leu2132=) c.6027A= (p.Leu2009=) n.6396A= | |
| 13 | g.32340751A>C | CA387789225 | BRCA2 | c.6396A>C (p.Leu2132Phe) c.6027A>C (p.Leu2009Phe) n.6396A>C | |
| 13 | g.32340751A>G | CA483438844 | BRCA2 | c.6396A>G (p.Leu2132=) c.6027A>G (p.Leu2009=) n.6396A>G | ClinVar gnomAD v4 |
| 13 | g.32340751A>T | CA387789226 | BRCA2 | c.6396A>T (p.Leu2132Phe) c.6027A>T (p.Leu2009Phe) n.6396A>T | dbSNP gnomAD v4 |
| 13 | g.32340751dup | CA10589374 | BRCA2 | c.6396dup (p.Ser2133IlefsTer3) c.6027dup (p.Ser2010IlefsTer3) n.6396dup | ClinVar dbSNP |
| 13 | g.32340752T>A | CA387789227 | BRCA2 | c.6397T>A (p.Ser2133Thr) c.6028T>A (p.Ser2010Thr) n.6397T>A | dbSNP |
| 13 | g.32340752T>C | CA387789228 | BRCA2 | c.6397T>C (p.Ser2133Pro) c.6028T>C (p.Ser2010Pro) n.6397T>C | ClinVar dbSNP gnomAD v3 |
| 13 | g.32340752T>G | CA387789229 | BRCA2 | c.6397T>G (p.Ser2133Ala) c.6028T>G (p.Ser2010Ala) n.6397T>G | dbSNP |
| 13 | g.32340752T= | CA2082814052 | BRCA2 | c.6397T= (p.Ser2133=) c.6028T= (p.Ser2010=) n.6397T= | |
| 13 | g.32340752dup | CA023979 | BRCA2 | c.6397dup (p.Ser2133PhefsTer3) c.6028dup (p.Ser2010PhefsTer3) n.6397dup | ClinVar dbSNP |
| 13 | g.32340752_32340753delinsAA | CA2573149193 | BRCA2 | c.6397_6398delinsAA (p.Ser2133Lys) c.6028_6029delinsAA (p.Ser2010Lys) n.6397_6398delinsAA | ClinVar dbSNP |
| 13 | g.32340753C>A | CA387789230 | BRCA2 | c.6398C>A (p.Ser2133Ter) c.6029C>A (p.Ser2010Ter) n.6398C>A | dbSNP gnomAD v4 |
| 13 | g.32340753C= | CA2082814059 | BRCA2 | c.6398C= (p.Ser2133=) c.6029C= (p.Ser2010=) n.6398C= | |
| 13 | g.32340753C>G | CA387789232 | BRCA2 | c.6398C>G (p.Ser2133Ter) c.6029C>G (p.Ser2010Ter) n.6398C>G | dbSNP |
| 13 | g.32340753C>T | CA387789231 | BRCA2 | c.6398C>T (p.Ser2133Leu) c.6029C>T (p.Ser2010Leu) n.6398C>T | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32340753_32340756delinsCAAA | CA2082814067 | BRCA2 | c.6398_6401delinsCAAA (p.Ser2133=) c.6029_6032delinsCAAA (p.Ser2010=) n.6398_6401delinsCAAA | |
| 13 | g.32340753_32340757delinsCAAAT | CA2082814066 | BRCA2 | c.6398_6402delinsCAAAT (p.Ser2133=) c.6029_6033delinsCAAAT (p.Ser2010=) n.6398_6402delinsCAAAT | |
| 13 | g.32340754A= | CA2082814075 | BRCA2 | c.6399A= (p.Ser2133=) c.6030A= (p.Ser2010=) n.6399A= | |
| 13 | g.32340754A>C | CA483438845 | BRCA2 | c.6399A>C (p.Ser2133=) c.6030A>C (p.Ser2010=) n.6399A>C | |
| 13 | g.32340754A>G | CA483438846 | BRCA2 | c.6399A>G (p.Ser2133=) c.6030A>G (p.Ser2010=) n.6399A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340754A>T | CA483438847 | BRCA2 | c.6399A>T (p.Ser2133=) c.6030A>T (p.Ser2010=) n.6399A>T | dbSNP |
| 13 | g.32340754_32340756del | CA023983 | BRCA2 | c.6399_6401del (p.Asn2134del) c.6030_6032del (p.Asn2011del) n.6399_6401del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340756del | CA2739277515 | BRCA2 | c.6401del (p.Asn2134IlefsTer3) c.6032del (p.Asn2011IlefsTer3) n.6401del | ClinVar |
| 13 | g.32340755_32340756del | CA2499222234 | BRCA2 | c.6400_6401del (p.Asn2134Ter) c.6031_6032del (p.Asn2011Ter) n.6400_6401del | |
| 13 | g.32340756_32340759del | CA023989 | BRCA2 | c.6401_6404del (p.Asn2134ThrfsTer2) c.6032_6035del (p.Asn2011ThrfsTer2) n.6401_6404del | ClinVar dbSNP |
| 13 | g.32340755A= | CA2082814080 | BRCA2 | c.6400A= (p.Asn2134=) c.6031A= (p.Asn2011=) n.6400A= | |
| 13 | g.32340755A>C | CA387789233 | BRCA2 | c.6400A>C (p.Asn2134His) c.6031A>C (p.Asn2011His) n.6400A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340755A>G | CA387789234 | BRCA2 | c.6400A>G (p.Asn2134Asp) c.6031A>G (p.Asn2011Asp) n.6400A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340755A>T | CA387789235 | BRCA2 | c.6400A>T (p.Asn2134Tyr) c.6031A>T (p.Asn2011Tyr) n.6400A>T | dbSNP |
| 13 | g.32340756A= | CA2082814089 | BRCA2 | c.6401A= (p.Asn2134=) c.6032A= (p.Asn2011=) n.6401A= | |
| 13 | g.32340756A>C | CA387789236 | BRCA2 | c.6401A>C (p.Asn2134Thr) c.6032A>C (p.Asn2011Thr) n.6401A>C | |
| 13 | g.32340756A>G | CA387789238 | BRCA2 | c.6401A>G (p.Asn2134Ser) c.6032A>G (p.Asn2011Ser) n.6401A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340756A>T | CA387789237 | BRCA2 | c.6401A>T (p.Asn2134Ile) c.6032A>T (p.Asn2011Ile) n.6401A>T | dbSNP |
| 13 | g.32340756_32340761delinsATAACT | CA2082814088 | BRCA2 | c.6401_6406delinsATAACT (p.Asn2134=) c.6032_6037delinsATAACT (p.Asn2011=) n.6401_6406delinsATAACT | |
| 13 | g.32340757T>A | CA387789239 | BRCA2 | c.6402T>A (p.Asn2134Lys) c.6033T>A (p.Asn2011Lys) n.6402T>A | dbSNP |
| 13 | g.32340757T>C | CA483438848 | BRCA2 | c.6402T>C (p.Asn2134=) c.6033T>C (p.Asn2011=) n.6402T>C | dbSNP |
| 13 | g.32340757T>G | CA387789240 | BRCA2 | c.6402T>G (p.Asn2134Lys) c.6033T>G (p.Asn2011Lys) n.6402T>G | dbSNP |
| 13 | g.32340760_32340764del | CA023991 | BRCA2 | c.6405_6409del (p.Asn2135LysfsTer3) c.6036_6040del (p.Asn2012LysfsTer3) n.6405_6409del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340758A= | CA2082814116 | BRCA2 | c.6403A= (p.Asn2135=) c.6034A= (p.Asn2012=) n.6403A= | |
| 13 | g.32340758A>C | CA023994 | BRCA2 | c.6403A>C (p.Asn2135His) c.6034A>C (p.Asn2012His) n.6403A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340758A>G | CA387789241 | BRCA2 | c.6403A>G (p.Asn2135Asp) c.6034A>G (p.Asn2012Asp) n.6403A>G | |
| 13 | g.32340758A>T | CA387789242 | BRCA2 | c.6403A>T (p.Asn2135Tyr) c.6034A>T (p.Asn2012Tyr) n.6403A>T | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340758_32340762delinsAACTT | CA2082814109 | BRCA2 | c.6403_6407delinsAACTT (p.Asn2135=) c.6034_6038delinsAACTT (p.Asn2012=) n.6403_6407delinsAACTT | |
| 13 | g.32340759A>C | CA387789243 | BRCA2 | c.6404A>C (p.Asn2135Thr) c.6035A>C (p.Asn2012Thr) n.6404A>C | |
| 13 | g.32340759A>G | CA387789244 | BRCA2 | c.6404A>G (p.Asn2135Ser) c.6035A>G (p.Asn2012Ser) n.6404A>G | ClinVar dbSNP |
| 13 | g.32340759A>T | CA387789245 | BRCA2 | c.6404A>T (p.Asn2135Ile) c.6035A>T (p.Asn2012Ile) n.6404A>T | dbSNP |
| 13 | g.32340760_32340763del | CA023996 | BRCA2 | c.6405_6408del (p.Asn2135LysfsTer?) c.6036_6039del (p.Asn2012LysfsTer?) n.6405_6408del | ClinVar dbSNP |
| 13 | g.32340760C>A | CA387789247 | BRCA2 | c.6405C>A (p.Asn2135Lys) c.6036C>A (p.Asn2012Lys) n.6405C>A | dbSNP |
| 13 | g.32340760C>G | CA387789246 | BRCA2 | c.6405C>G (p.Asn2135Lys) c.6036C>G (p.Asn2012Lys) n.6405C>G | dbSNP gnomAD v4 |
| 13 | g.32340760C>T | CA483438849 | BRCA2 | c.6405C>T (p.Asn2135=) c.6036C>T (p.Asn2012=) n.6405C>T | dbSNP |
| 13 | g.32340760_32340762delinsCTT | CA2082814123 | BRCA2 | c.6405_6407delinsCTT (p.Asn2135=) c.6036_6038delinsCTT (p.Asn2012=) n.6405_6407delinsCTT | |
| 13 | g.32340760_32340765delinsCTTAAA | CA2082814122 | BRCA2 | c.6405_6410delinsCTTAAA (p.Asn2135=) c.6036_6041delinsCTTAAA (p.Asn2012=) n.6405_6410delinsCTTAAA | |
| 13 | g.32340760_32340767delinsCTTAAATG | CA2082814124 | BRCA2 | c.6405_6412delinsCTTAAATG (p.Asn2135=) c.6036_6043delinsCTTAAATG (p.Asn2012=) n.6405_6412delinsCTTAAATG | |
| 13 | g.32340761T>A | CA387789248 | BRCA2 | c.6406T>A (p.Leu2136Ile) c.6037T>A (p.Leu2013Ile) n.6406T>A | ClinVar dbSNP |
| 13 | g.32340761T>C | CA483438850 | BRCA2 | c.6406T>C (p.Leu2136=) c.6037T>C (p.Leu2013=) n.6406T>C | gnomAD v4 |
| 13 | g.32340761T>G | CA387789249 | BRCA2 | c.6406T>G (p.Leu2136Val) c.6037T>G (p.Leu2013Val) n.6406T>G | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32340761T= | CA2082814144 | BRCA2 | c.6406T= (p.Leu2136=) c.6037T= (p.Leu2013=) n.6406T= | |
| 13 | g.32340761_32340762del | CA024002 | BRCA2 | c.6406_6407del (p.Leu2136LysfsTer3) c.6037_6038del (p.Leu2013LysfsTer3) n.6406_6407del | ClinVar dbSNP |
| 13 | g.32340762dup | CA2695199698 | BRCA2 | c.6407dup (p.Leu2136PhefsTer4) c.6038dup (p.Leu2013PhefsTer4) n.6407dup | ClinVar |
| 13 | g.32340762_32340766del | CA024004 | BRCA2 | c.6407_6411del (p.Leu2136CysfsTer2) c.6038_6042del (p.Leu2013CysfsTer2) n.6407_6411del | ClinVar dbSNP |
| 13 | g.32340763_32340769del | CA024006 | BRCA2 | c.6408_6414del (p.Asn2137LysfsTer29) c.6039_6045del (p.Asn2014LysfsTer29) n.6408_6414del | ClinVar dbSNP |
| 13 | g.32340762T>A | CA387789250 | BRCA2 | c.6407T>A (p.Leu2136Ter) c.6038T>A (p.Leu2013Ter) n.6407T>A | |
| 13 | g.32340762T>C | CA387789251 | BRCA2 | c.6407T>C (p.Leu2136Ser) c.6038T>C (p.Leu2013Ser) n.6407T>C | |
| 13 | g.32340762T>G | CA387789252 | BRCA2 | c.6407T>G (p.Leu2136Ter) c.6038T>G (p.Leu2013Ter) n.6407T>G | ClinVar dbSNP |
| 13 | g.32340762_32340763delinsTA | CA2082814153 | BRCA2 | c.6407_6408delinsTA (p.Leu2136=) c.6038_6039delinsTA (p.Leu2013=) n.6407_6408delinsTA | |
| 13 | g.32340763_32340766dup | CA658683804 | BRCA2 | c.6408_6411dup (p.Val2138LysfsTer3) c.6039_6042dup (p.Val2015LysfsTer3) n.6408_6411dup | ClinVar dbSNP |
| 13 | g.32340763A>C | CA387789253 | BRCA2 | c.6408A>C (p.Leu2136Phe) c.6039A>C (p.Leu2013Phe) n.6408A>C | |
| 13 | g.32340763A>G | CA483438851 | BRCA2 | c.6408A>G (p.Leu2136=) c.6039A>G (p.Leu2013=) n.6408A>G | |
| 13 | g.32340763A>T | CA387789254 | BRCA2 | c.6408A>T (p.Leu2136Phe) c.6039A>T (p.Leu2013Phe) n.6408A>T | ClinVar dbSNP |
| 13 | g.32340765dup | CA10586557 | BRCA2 | c.6410dup (p.Asn2137LysfsTer3) c.6041dup (p.Asn2014LysfsTer3) n.6410dup | ClinVar dbSNP |
| 13 | g.32340765del | CA10589375 | BRCA2 | c.6410del (p.Asn2137MetfsTer?) c.6041del (p.Asn2014MetfsTer?) n.6410del | ClinVar dbSNP |
| 13 | g.32340764_32340765del | CA2499222235 | BRCA2 | c.6409_6410del (p.Asn2137CysfsTer2) c.6040_6041del (p.Asn2014CysfsTer2) n.6409_6410del | ClinVar dbSNP |
| 13 | g.32340764A= | CA2082814167 | BRCA2 | c.6409A= (p.Asn2137=) c.6040A= (p.Asn2014=) n.6409A= | |
| 13 | g.32340764A>C | CA387789255 | BRCA2 | c.6409A>C (p.Asn2137His) c.6040A>C (p.Asn2014His) n.6409A>C | |
| 13 | g.32340764A>G | CA387789256 | BRCA2 | c.6409A>G (p.Asn2137Asp) c.6040A>G (p.Asn2014Asp) n.6409A>G | ClinVar dbSNP |
| 13 | g.32340764A>T | CA387789257 | BRCA2 | c.6409A>T (p.Asn2137Tyr) c.6040A>T (p.Asn2014Tyr) n.6409A>T | dbSNP |
| 13 | g.32340765A= | CA2082814172 | BRCA2 | c.6410A= (p.Asn2137=) c.6041A= (p.Asn2014=) n.6410A= | |
| 13 | g.32340765A>C | CA387789258 | BRCA2 | c.6410A>C (p.Asn2137Thr) c.6041A>C (p.Asn2014Thr) n.6410A>C | ClinVar |
| 13 | g.32340765A>G | CA387789260 | BRCA2 | c.6410A>G (p.Asn2137Ser) c.6041A>G (p.Asn2014Ser) n.6410A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340765A>T | CA387789259 | BRCA2 | c.6410A>T (p.Asn2137Ile) c.6041A>T (p.Asn2014Ile) n.6410A>T | dbSNP |
| 13 | g.32340766T>A | CA10583120 | BRCA2 | c.6411T>A (p.Asn2137Lys) c.6042T>A (p.Asn2014Lys) n.6411T>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340766T>C | CA483438852 | BRCA2 | c.6411T>C (p.Asn2137=) c.6042T>C (p.Asn2014=) n.6411T>C | ClinVar |
| 13 | g.32340766T>G | CA387789261 | BRCA2 | c.6411T>G (p.Asn2137Lys) c.6042T>G (p.Asn2014Lys) n.6411T>G | |
| 13 | g.32340766T= | CA2082814178 | BRCA2 | c.6411T= (p.Asn2137=) c.6042T= (p.Asn2014=) n.6411T= | |
| 13 | g.32340767G>A | CA387789262 | BRCA2 | c.6412G>A (p.Val2138Ile) c.6043G>A (p.Val2015Ile) n.6412G>A | dbSNP |
| 13 | g.32340767G>C | CA387789263 | BRCA2 | c.6412G>C (p.Val2138Leu) c.6043G>C (p.Val2015Leu) n.6412G>C | |
| 13 | g.32340767G= | CA2082814187 | BRCA2 | c.6412G= (p.Val2138=) c.6043G= (p.Val2015=) n.6412G= | |
| 13 | g.32340767G>T | CA024008 | BRCA2 | c.6412G>T (p.Val2138Phe) c.6043G>T (p.Val2015Phe) n.6412G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340768T>A | CA024010 | BRCA2 | c.6413T>A (p.Val2138Asp) c.6044T>A (p.Val2015Asp) n.6413T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340768T>C | CA387789264 | BRCA2 | c.6413T>C (p.Val2138Ala) c.6044T>C (p.Val2015Ala) n.6413T>C | dbSNP |
| 13 | g.32340768T>G | CA387789265 | BRCA2 | c.6413T>G (p.Val2138Gly) c.6044T>G (p.Val2015Gly) n.6413T>G | ClinVar dbSNP |
| 13 | g.32340768T= | CA2082814199 | BRCA2 | c.6413T= (p.Val2138=) c.6044T= (p.Val2015=) n.6413T= | |
| 13 | g.32340769T>A | CA483438855 | BRCA2 | c.6414T>A (p.Val2138=) c.6045T>A (p.Val2015=) n.6414T>A | |
| 13 | g.32340769T>C | CA483438853 | BRCA2 | c.6414T>C (p.Val2138=) c.6045T>C (p.Val2015=) n.6414T>C | ClinVar |
| 13 | g.32340769T>G | CA483438854 | BRCA2 | c.6414T>G (p.Val2138=) c.6045T>G (p.Val2015=) n.6414T>G | ClinVar dbSNP |
| 13 | g.32340769T= | CA2082814210 | BRCA2 | c.6414T= (p.Val2138=) c.6045T= (p.Val2015=) n.6414T= | |
| 13 | g.32340769_32340781delinsTGAAGGTGGTTCT | CA2082814211 | BRCA2 | c.6414_6426delinsTGAAGGTGGTTCT (p.Val2138=) c.6045_6057delinsTGAAGGTGGTTCT (p.Val2015=) n.6414_6426delinsTGAAGGTGGTTCT | |
| 13 | g.32340770del | CA2695217829 | BRCA2 | c.6415del (p.Glu2139LysfsTer29) c.6046del (p.Glu2016LysfsTer29) n.6415del | |
| 13 | g.32340770G>A | CA6940949 | BRCA2 | c.6415G>A (p.Glu2139Lys) c.6046G>A (p.Glu2016Lys) n.6415G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340770G>C | CA387789267 | BRCA2 | c.6415G>C (p.Glu2139Gln) c.6046G>C (p.Glu2016Gln) n.6415G>C | dbSNP |
| 13 | g.32340770G= | CA2082814224 | BRCA2 | c.6415G= (p.Glu2139=) c.6046G= (p.Glu2016=) n.6415G= | |
| 13 | g.32340770G>T | CA387789266 | BRCA2 | c.6415G>T (p.Glu2139Ter) c.6046G>T (p.Glu2016Ter) n.6415G>T | ClinVar dbSNP |
| 13 | g.32340770_32340771delinsAT | CA16619744 | BRCA2 | c.6415_6416delinsAT (p.Glu2139Ile) c.6046_6047delinsAT (p.Glu2016Ile) n.6415_6416delinsAT | ClinVar dbSNP |
| 13 | g.32340770_32340771delinsGA | CA2082814230 | BRCA2 | c.6415_6416delinsGA (p.Glu2139=) c.6046_6047delinsGA (p.Glu2016=) n.6415_6416delinsGA | |
| 13 | g.32340770_32340771delinsTT | CA1139663235 | BRCA2 | c.6415_6416delinsTT (p.Glu2139Leu) c.6046_6047delinsTT (p.Glu2016Leu) n.6415_6416delinsTT | ClinVar dbSNP |
| 13 | g.32340770_32340781delinsTGTTTAGTTAG | CA1139663236 | BRCA2 | c.6415_6426delinsTGTTTAGTTAG (p.Glu2139CysfsTer29) c.6046_6057delinsTGTTTAGTTAG (p.Glu2016CysfsTer29) n.6415_6426delinsTGTTTAGTTAG | ClinVar dbSNP |
| 13 | g.32340771A= | CA2082814244 | BRCA2 | c.6416A= (p.Glu2139=) c.6047A= (p.Glu2016=) n.6416A= | |
| 13 | g.32340771A>C | CA387789268 | BRCA2 | c.6416A>C (p.Glu2139Ala) c.6047A>C (p.Glu2016Ala) n.6416A>C | ClinVar dbSNP |
| 13 | g.32340771A>G | CA387789269 | BRCA2 | c.6416A>G (p.Glu2139Gly) c.6047A>G (p.Glu2016Gly) n.6416A>G | dbSNP |
| 13 | g.32340771A>T | CA6940950 | BRCA2 | c.6416A>T (p.Glu2139Val) c.6047A>T (p.Glu2016Val) n.6416A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340772A= | CA2082814257 | BRCA2 | c.6417A= (p.Glu2139=) c.6048A= (p.Glu2016=) n.6417A= | |
| 13 | g.32340772A>C | CA387789270 | BRCA2 | c.6417A>C (p.Glu2139Asp) c.6048A>C (p.Glu2016Asp) n.6417A>C | ClinVar |
| 13 | g.32340772A>G | CA483438856 | BRCA2 | c.6417A>G (p.Glu2139=) c.6048A>G (p.Glu2016=) n.6417A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340772A>T | CA387789271 | BRCA2 | c.6417A>T (p.Glu2139Asp) c.6048A>T (p.Glu2016Asp) n.6417A>T | dbSNP |
| 13 | g.32340772_32340773delinsAG | CA2082814254 | BRCA2 | c.6417_6418delinsAG (p.Glu2139=) c.6048_6049delinsAG (p.Glu2016=) n.6417_6418delinsAG | |
| 13 | g.32340772_32340773insT | CA2695199702 | BRCA2 | c.6417_6418insT (p.Gly2140TrpfsTer7) c.6048_6049insT (p.Gly2017TrpfsTer7) n.6417_6418insT | ClinVar |
| 13 | g.32340773G>A | CA10584449 | BRCA2 | c.6418G>A (p.Gly2140Ser) c.6049G>A (p.Gly2017Ser) n.6418G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32340773G>C | CA387789272 | BRCA2 | c.6418G>C (p.Gly2140Arg) c.6049G>C (p.Gly2017Arg) n.6418G>C | dbSNP |
| 13 | g.32340773G= | CA2082814267 | BRCA2 | c.6418G= (p.Gly2140=) c.6049G= (p.Gly2017=) n.6418G= | |
| 13 | g.32340773G>T | CA387789273 | BRCA2 | c.6418G>T (p.Gly2140Cys) c.6049G>T (p.Gly2017Cys) n.6418G>T | dbSNP |
| 13 | g.32340774del | CA10589376 | BRCA2 | c.6419del (p.Gly2140ValfsTer28) c.6050del (p.Gly2017ValfsTer28) n.6419del | ClinVar dbSNP |
| 13 | g.32340773_32340774insTGAA | CA2499222236 | BRCA2 | c.6418_6419insTGAA (p.Gly2140ValfsTer8) c.6049_6050insTGAA (p.Gly2017ValfsTer8) n.6418_6419insTGAA | |
| 13 | g.32340774G>A | CA387789274 | BRCA2 | c.6419G>A (p.Gly2140Asp) c.6050G>A (p.Gly2017Asp) n.6419G>A | ClinVar dbSNP |
| 13 | g.32340774G>C | CA387789275 | BRCA2 | c.6419G>C (p.Gly2140Ala) c.6050G>C (p.Gly2017Ala) n.6419G>C | dbSNP |
| 13 | g.32340774G= | CA2082814278 | BRCA2 | c.6419G= (p.Gly2140=) c.6050G= (p.Gly2017=) n.6419G= | |
| 13 | g.32340774G>T | CA10579693 | BRCA2 | c.6419G>T (p.Gly2140Val) c.6050G>T (p.Gly2017Val) n.6419G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340774_32340775insA | CA658823708 | BRCA2 | c.6419_6420insA (p.Gly2141TrpfsTer6) c.6050_6051insA (p.Gly2018TrpfsTer6) n.6419_6420insA | ClinVar dbSNP |
| 13 | g.32340775T>A | CA483438858 | BRCA2 | c.6420T>A (p.Gly2140=) c.6051T>A (p.Gly2017=) n.6420T>A | |
| 13 | g.32340775T>C | CA483438857 | BRCA2 | c.6420T>C (p.Gly2140=) c.6051T>C (p.Gly2017=) n.6420T>C | |
| 13 | g.32340775T>G | CA024014 | BRCA2 | c.6420T>G (p.Gly2140=) c.6051T>G (p.Gly2017=) n.6420T>G | ClinVar dbSNP |
| 13 | g.32340775T= | CA2082814300 | BRCA2 | c.6420T= (p.Gly2140=) c.6051T= (p.Gly2017=) n.6420T= | |
| 13 | g.32340776_32340779dup | CA913191189 | BRCA2 | c.6421_6424dup (p.Ser2142TrpfsTer6) c.6052_6055dup (p.Ser2019TrpfsTer6) n.6421_6424dup | ClinVar dbSNP |
| 13 | g.32340775_32340776insA | CA024012 | BRCA2 | c.6420_6421insA (p.Gly2141ArgfsTer6) c.6051_6052insA (p.Gly2018ArgfsTer6) n.6420_6421insA | ClinVar dbSNP |
| 13 | g.32340776G>A | CA387789277 | BRCA2 | c.6421G>A (p.Gly2141Ser) c.6052G>A (p.Gly2018Ser) n.6421G>A | ClinVar dbSNP |
| 13 | g.32340776G>C | CA387789276 | BRCA2 | c.6421G>C (p.Gly2141Arg) c.6052G>C (p.Gly2018Arg) n.6421G>C | ClinVar dbSNP |
| 13 | g.32340776G= | CA2082814319 | BRCA2 | c.6421G= (p.Gly2141=) c.6052G= (p.Gly2018=) n.6421G= | |
| 13 | g.32340776G>T | CA247513726 | BRCA2 | c.6421G>T (p.Gly2141Cys) c.6052G>T (p.Gly2018Cys) n.6421G>T | ClinVar dbSNP |
| 13 | g.32340777dup | CA024016 | BRCA2 | c.6422dup (p.Ser2142PhefsTer5) c.6053dup (p.Ser2019PhefsTer5) n.6422dup | ClinVar dbSNP |
| 13 | g.32340777G>A | CA387789278 | BRCA2 | c.6422G>A (p.Gly2141Asp) c.6053G>A (p.Gly2018Asp) n.6422G>A | dbSNP |
| 13 | g.32340777G>C | CA387789279 | BRCA2 | c.6422G>C (p.Gly2141Ala) c.6053G>C (p.Gly2018Ala) n.6422G>C | dbSNP |
| 13 | g.32340777G= | CA2082814324 | BRCA2 | c.6422G= (p.Gly2141=) c.6053G= (p.Gly2018=) n.6422G= | |
| 13 | g.32340777G>T | CA6940951 | BRCA2 | c.6422G>T (p.Gly2141Val) c.6053G>T (p.Gly2018Val) n.6422G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340778T>A | CA483438859 | BRCA2 | c.6423T>A (p.Gly2141=) c.6054T>A (p.Gly2018=) n.6423T>A | dbSNP |
| 13 | g.32340778T>C | CA483438860 | BRCA2 | c.6423T>C (p.Gly2141=) c.6054T>C (p.Gly2018=) n.6423T>C | dbSNP |
| 13 | g.32340778T>G | CA6940952 | BRCA2 | c.6423T>G (p.Gly2141=) c.6054T>G (p.Gly2018=) n.6423T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340778T= | CA2082814339 | BRCA2 | c.6423T= (p.Gly2141=) c.6054T= (p.Gly2018=) n.6423T= | |
| 13 | g.32340779T>A | CA387789280 | BRCA2 | c.6424T>A (p.Ser2142Thr) c.6055T>A (p.Ser2019Thr) n.6424T>A | dbSNP |
| 13 | g.32340779T>C | CA024019 | BRCA2 | c.6424T>C (p.Ser2142Pro) c.6055T>C (p.Ser2019Pro) n.6424T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340779T>G | CA387789281 | BRCA2 | c.6424T>G (p.Ser2142Ala) c.6055T>G (p.Ser2019Ala) n.6424T>G | dbSNP |
| 13 | g.32340779T= | CA2082814347 | BRCA2 | c.6424T= (p.Ser2142=) c.6055T= (p.Ser2019=) n.6424T= | |
| 13 | g.32340780C>A | CA387789282 | BRCA2 | c.6425C>A (p.Ser2142Tyr) c.6056C>A (p.Ser2019Tyr) n.6425C>A | ClinVar dbSNP |
| 13 | g.32340780C>G | CA387789283 | BRCA2 | c.6425C>G (p.Ser2142Cys) c.6056C>G (p.Ser2019Cys) n.6425C>G | dbSNP |
| 13 | g.32340780C>T | CA387789284 | BRCA2 | c.6425C>T (p.Ser2142Phe) c.6056C>T (p.Ser2019Phe) n.6425C>T | dbSNP |
| 13 | g.32340781T>A | CA483438861 | BRCA2 | c.6426T>A (p.Ser2142=) c.6057T>A (p.Ser2019=) n.6426T>A | dbSNP |
| 13 | g.32340781T>C | CA483438862 | BRCA2 | c.6426T>C (p.Ser2142=) c.6057T>C (p.Ser2019=) n.6426T>C | ClinVar dbSNP |
| 13 | g.32340781T>G | CA483438863 | BRCA2 | c.6426T>G (p.Ser2142=) c.6057T>G (p.Ser2019=) n.6426T>G | ClinVar dbSNP |
| 13 | g.32340781T= | CA2082814365 | BRCA2 | c.6426T= (p.Ser2142=) c.6057T= (p.Ser2019=) n.6426T= | |
| 13 | g.32340782T>A | CA387789286 | BRCA2 | c.6427T>A (p.Ser2143Thr) c.6058T>A (p.Ser2020Thr) n.6427T>A | ClinVar dbSNP |
| 13 | g.32340782T>C | CA387789287 | BRCA2 | c.6427T>C (p.Ser2143Pro) c.6058T>C (p.Ser2020Pro) n.6427T>C | ClinVar dbSNP |
| 13 | g.32340782T>G | CA387789285 | BRCA2 | c.6427T>G (p.Ser2143Ala) c.6058T>G (p.Ser2020Ala) n.6427T>G | gnomAD v4 |
| 13 | g.32340782T= | CA2082814371 | BRCA2 | c.6427T= (p.Ser2143=) c.6058T= (p.Ser2020=) n.6427T= | |
| 13 | g.32340782_32340783delinsAT | CA2695217832 | BRCA2 | c.6427_6428delinsAT (p.Ser2143Ile) c.6058_6059delinsAT (p.Ser2020Ile) n.6427_6428delinsAT | |
| 13 | g.32340782_32340783delinsTC | CA2082814370 | BRCA2 | c.6427_6428delinsTC (p.Ser2143=) c.6058_6059delinsTC (p.Ser2020=) n.6427_6428delinsTC | |
| 13 | g.32340782_32340785del | CA2695217831 | BRCA2 | c.6427_6430del (p.Ser2143LysfsTer24) c.6058_6061del (p.Ser2020LysfsTer24) n.6427_6430del | |
| 13 | g.32340783del | CA024022 | BRCA2 | c.6428del (p.Ser2143Ter) c.6059del (p.Ser2020Ter) n.6428del | ClinVar dbSNP |
| 13 | g.32340783C>A | CA10583121 | BRCA2 | c.6428C>A (p.Ser2143Ter) c.6059C>A (p.Ser2020Ter) n.6428C>A | ClinVar dbSNP |
| 13 | g.32340783C= | CA2082814386 | BRCA2 | c.6428C= (p.Ser2143=) c.6059C= (p.Ser2020=) n.6428C= | |
| 13 | g.32340783C>G | CA10589377 | BRCA2 | c.6428C>G (p.Ser2143Ter) c.6059C>G (p.Ser2020Ter) n.6428C>G | ClinVar dbSNP |
| 13 | g.32340783C>T | CA024021 | BRCA2 | c.6428C>T (p.Ser2143Leu) c.6059C>T (p.Ser2020Leu) n.6428C>T | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.32340784A= | CA2082814396 | BRCA2 | c.6429A= (p.Ser2143=) c.6060A= (p.Ser2020=) n.6429A= | |
| 13 | g.32340784A>C | CA483438864 | BRCA2 | c.6429A>C (p.Ser2143=) c.6060A>C (p.Ser2020=) n.6429A>C | ClinVar dbSNP |
| 13 | g.32340784A>G | CA483438865 | BRCA2 | c.6429A>G (p.Ser2143=) c.6060A>G (p.Ser2020=) n.6429A>G | dbSNP |
| 13 | g.32340784A>T | CA483438866 | BRCA2 | c.6429A>T (p.Ser2143=) c.6060A>T (p.Ser2020=) n.6429A>T | ClinVar dbSNP |
| 13 | g.32340785G>A | CA6940953 | BRCA2 | c.6430G>A (p.Glu2144Lys) c.6061G>A (p.Glu2021Lys) n.6430G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340785G>C | CA387789289 | BRCA2 | c.6430G>C (p.Glu2144Gln) c.6061G>C (p.Glu2021Gln) n.6430G>C | |
| 13 | g.32340785G= | CA2082814404 | BRCA2 | c.6430G= (p.Glu2144=) c.6061G= (p.Glu2021=) n.6430G= | |
| 13 | g.32340785G>T | CA387789288 | BRCA2 | c.6430G>T (p.Glu2144Ter) c.6061G>T (p.Glu2021Ter) n.6430G>T | dbSNP |
| 13 | g.32340785_32340786delinsGA | CA2082814403 | BRCA2 | c.6430_6431delinsGA (p.Glu2144=) c.6061_6062delinsGA (p.Glu2021=) n.6430_6431delinsGA | |
| 13 | g.32340786A= | CA2082814413 | BRCA2 | c.6431A= (p.Glu2144=) c.6062A= (p.Glu2021=) n.6431A= | |
| 13 | g.32340786A>C | CA387789290 | BRCA2 | c.6431A>C (p.Glu2144Ala) c.6062A>C (p.Glu2021Ala) n.6431A>C | |
| 13 | g.32340786A>G | CA6940954 | BRCA2 | c.6431A>G (p.Glu2144Gly) c.6062A>G (p.Glu2021Gly) n.6431A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340786A>T | CA387789291 | BRCA2 | c.6431A>T (p.Glu2144Val) c.6062A>T (p.Glu2021Val) n.6431A>T | dbSNP |
| 13 | g.32340789dup | CA919242706 | BRCA2 | c.6434dup (p.Asn2145LysfsTer2) c.6065dup (p.Asn2022LysfsTer2) n.6434dup | dbSNP |
| 13 | g.32340789del | CA024024 | BRCA2 | c.6434del (p.Asn2145IlefsTer23) c.6065del (p.Asn2022IlefsTer23) n.6434del | ClinVar dbSNP |
| 13 | g.32340787A>C | CA387789292 | BRCA2 | c.6432A>C (p.Glu2144Asp) c.6063A>C (p.Glu2021Asp) n.6432A>C | gnomAD v4 |
| 13 | g.32340787A>G | CA483438867 | BRCA2 | c.6432A>G (p.Glu2144=) c.6063A>G (p.Glu2021=) n.6432A>G | |
| 13 | g.32340787A>T | CA387789293 | BRCA2 | c.6432A>T (p.Glu2144Asp) c.6063A>T (p.Glu2021Asp) n.6432A>T | dbSNP |
| 13 | g.32340787_32340790delinsAAAT | CA2082814417 | BRCA2 | c.6432_6435delinsAAAT (p.Glu2144=) c.6063_6066delinsAAAT (p.Glu2021=) n.6432_6435delinsAAAT | |
| 13 | g.32340788A= | CA2082814427 | BRCA2 | c.6433A= (p.Asn2145=) c.6064A= (p.Asn2022=) n.6433A= | |
| 13 | g.32340788A>C | CA387789294 | BRCA2 | c.6433A>C (p.Asn2145His) c.6064A>C (p.Asn2022His) n.6433A>C | ClinVar dbSNP |
| 13 | g.32340788A>G | CA387789296 | BRCA2 | c.6433A>G (p.Asn2145Asp) c.6064A>G (p.Asn2022Asp) n.6433A>G | |
| 13 | g.32340788A>T | CA387789295 | BRCA2 | c.6433A>T (p.Asn2145Tyr) c.6064A>T (p.Asn2022Tyr) n.6433A>T | dbSNP |
| 13 | g.32340791_32340793del | CA2082814429 | BRCA2 | c.6436_6438del (p.Asn2146del) c.6067_6069del (p.Asn2023del) n.6436_6438del | ClinVar dbSNP |
| 13 | g.32340788_32340796delinsAATAATCAC | CA2082814422 | BRCA2 | c.6433_6441delinsAATAATCAC (p.Asn2145=) c.6064_6072delinsAATAATCAC (p.Asn2022=) n.6433_6441delinsAATAATCAC | |
| 13 | g.32340789A= | CA2082814435 | BRCA2 | c.6434A= (p.Asn2145=) c.6065A= (p.Asn2022=) n.6434A= | |
| 13 | g.32340789A>C | CA387789297 | BRCA2 | c.6434A>C (p.Asn2145Thr) c.6065A>C (p.Asn2022Thr) n.6434A>C | dbSNP |
| 13 | g.32340789A>G | CA024030 | BRCA2 | c.6434A>G (p.Asn2145Ser) c.6065A>G (p.Asn2022Ser) n.6434A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340789A>T | CA387789298 | BRCA2 | c.6434A>T (p.Asn2145Ile) c.6065A>T (p.Asn2022Ile) n.6434A>T | dbSNP |
| 13 | g.32340789_32340796del | CA024026 | BRCA2 | c.6434_6441del (p.Asn2145IlefsTer3) c.6065_6072del (p.Asn2022IlefsTer3) n.6434_6441del | ClinVar dbSNP |
| 13 | g.32340790T>A | CA387789299 | BRCA2 | c.6435T>A (p.Asn2145Lys) c.6066T>A (p.Asn2022Lys) n.6435T>A | |
| 13 | g.32340790T>C | CA024032 | BRCA2 | c.6435T>C (p.Asn2145=) c.6066T>C (p.Asn2022=) n.6435T>C | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 13 | g.32340790T>G | CA387789300 | BRCA2 | c.6435T>G (p.Asn2145Lys) c.6066T>G (p.Asn2022Lys) n.6435T>G | |
| 13 | g.32340790T= | CA2082814444 | BRCA2 | c.6435T= (p.Asn2145=) c.6066T= (p.Asn2022=) n.6435T= | |
| 13 | g.32340790_32340794delinsTAATC | CA2082814443 | BRCA2 | c.6435_6439delinsTAATC (p.Asn2145=) c.6066_6070delinsTAATC (p.Asn2022=) n.6435_6439delinsTAATC | |
| 13 | g.32340791A= | CA2082814463 | BRCA2 | c.6436A= (p.Asn2146=) c.6067A= (p.Asn2023=) n.6436A= | |
| 13 | g.32340791A>C | CA387789301 | BRCA2 | c.6436A>C (p.Asn2146His) c.6067A>C (p.Asn2023His) n.6436A>C | ClinVar dbSNP |
| 13 | g.32340791A>G | CA387789302 | BRCA2 | c.6436A>G (p.Asn2146Asp) c.6067A>G (p.Asn2023Asp) n.6436A>G | ClinVar dbSNP |
| 13 | g.32340791A>T | CA387789303 | BRCA2 | c.6436A>T (p.Asn2146Tyr) c.6067A>T (p.Asn2023Tyr) n.6436A>T | dbSNP |
| 13 | g.32340792_32340795dup | CA658683805 | BRCA2 | c.6437_6440dup (p.His2147GlnfsTer5) c.6068_6071dup (p.His2024GlnfsTer5) n.6437_6440dup | ClinVar dbSNP |
| 13 | g.32340792_32340795del | CA024033 | BRCA2 | c.6437_6440del (p.Asn2146ThrfsTer21) c.6068_6071del (p.Asn2023ThrfsTer21) n.6437_6440del | ClinVar dbSNP |
| 13 | g.32340792A= | CA2082814475 | BRCA2 | c.6437A= (p.Asn2146=) c.6068A= (p.Asn2023=) n.6437A= | |
| 13 | g.32340792A>C | CA387789304 | BRCA2 | c.6437A>C (p.Asn2146Thr) c.6068A>C (p.Asn2023Thr) n.6437A>C | dbSNP |
| 13 | g.32340792A>G | CA6940955 | BRCA2 | c.6437A>G (p.Asn2146Ser) c.6068A>G (p.Asn2023Ser) n.6437A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340792A>T | CA387789305 | BRCA2 | c.6437A>T (p.Asn2146Ile) c.6068A>T (p.Asn2023Ile) n.6437A>T | dbSNP |
| 13 | g.32340792_32340796delinsATCAC | CA2082814480 | BRCA2 | c.6437_6441delinsATCAC (p.Asn2146=) c.6068_6072delinsATCAC (p.Asn2023=) n.6437_6441delinsATCAC | |
| 13 | g.32340793T>A | CA387789307 | BRCA2 | c.6438T>A (p.Asn2146Lys) c.6069T>A (p.Asn2023Lys) n.6438T>A | ClinVar dbSNP |
| 13 | g.32340793T>C | CA483438868 | BRCA2 | c.6438T>C (p.Asn2146=) c.6069T>C (p.Asn2023=) n.6438T>C | |
| 13 | g.32340793T>G | CA387789306 | BRCA2 | c.6438T>G (p.Asn2146Lys) c.6069T>G (p.Asn2023Lys) n.6438T>G | ClinVar dbSNP |
| 13 | g.32340793T= | CA2082814487 | BRCA2 | c.6438T= (p.Asn2146=) c.6069T= (p.Asn2023=) n.6438T= | |
| 13 | g.32340795_32340798del | CA919242708 | BRCA2 | c.6440_6443del (p.His2147LeufsTer20) c.6071_6074del (p.His2024LeufsTer20) n.6440_6443del | ClinVar dbSNP |
| 13 | g.32340794C>A | CA387789308 | BRCA2 | c.6439C>A (p.His2147Asn) c.6070C>A (p.His2024Asn) n.6439C>A | dbSNP |
| 13 | g.32340794C= | CA2082814492 | BRCA2 | c.6439C= (p.His2147=) c.6070C= (p.His2024=) n.6439C= | |
| 13 | g.32340794C>G | CA387789309 | BRCA2 | c.6439C>G (p.His2147Asp) c.6070C>G (p.His2024Asp) n.6439C>G | dbSNP |
| 13 | g.32340794C>T | CA024036 | BRCA2 | c.6439C>T (p.His2147Tyr) c.6070C>T (p.His2024Tyr) n.6439C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340795A= | CA2082814501 | BRCA2 | c.6440A= (p.His2147=) c.6071A= (p.His2024=) n.6440A= | |
| 13 | g.32340795A>C | CA387789310 | BRCA2 | c.6440A>C (p.His2147Pro) c.6071A>C (p.His2024Pro) n.6440A>C | dbSNP |
| 13 | g.32340795A>G | CA387789311 | BRCA2 | c.6440A>G (p.His2147Arg) c.6071A>G (p.His2024Arg) n.6440A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32340795A>T | CA387789312 | BRCA2 | c.6440A>T (p.His2147Leu) c.6071A>T (p.His2024Leu) n.6440A>T | dbSNP |
| 13 | g.32340795_32340797delinsACT | CA2082814499 | BRCA2 | c.6440_6442delinsACT (p.His2147=) c.6071_6073delinsACT (p.His2024=) n.6440_6442delinsACT | |
| 13 | g.32340796C>A | CA387789313 | BRCA2 | c.6441C>A (p.His2147Gln) c.6072C>A (p.His2024Gln) n.6441C>A | dbSNP |
| 13 | g.32340796C= | CA2082814518 | BRCA2 | c.6441C= (p.His2147=) c.6072C= (p.His2024=) n.6441C= | |
| 13 | g.32340796C>G | CA024038 | BRCA2 | c.6441C>G (p.His2147Gln) c.6072C>G (p.His2024Gln) n.6441C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340796C>T | CA10579694 | BRCA2 | c.6441C>T (p.His2147=) c.6072C>T (p.His2024=) n.6441C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32340798_32340799del | CA024040 | BRCA2 | c.6443_6444del (p.Ser2148TyrfsTer2) c.6074_6075del (p.Ser2025TyrfsTer2) n.6443_6444del | ClinVar dbSNP COSMIC |
| 13 | g.32340797T>A | CA387789316 | BRCA2 | c.6442T>A (p.Ser2148Thr) c.6073T>A (p.Ser2025Thr) n.6442T>A | dbSNP |
| 13 | g.32340797T>C | CA387789314 | BRCA2 | c.6442T>C (p.Ser2148Pro) c.6073T>C (p.Ser2025Pro) n.6442T>C | dbSNP gnomAD v4 |
| 13 | g.32340797T>G | CA387789315 | BRCA2 | c.6442T>G (p.Ser2148Ala) c.6073T>G (p.Ser2025Ala) n.6442T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32340797T= | CA2082814529 | BRCA2 | c.6442T= (p.Ser2148=) c.6073T= (p.Ser2025=) n.6442T= | |
| 13 | g.32340798_32340802del | CA2695217833 | BRCA2 | c.6443_6447del (p.Ser2148Ter) c.6074_6078del (p.Ser2025Ter) n.6443_6447del | |
| 13 | g.32340797_32340798insTA | CA919242711 | BRCA2 | c.6442_6443insTA (p.Ser2148LeufsTer21) c.6073_6074insTA (p.Ser2025LeufsTer21) n.6442_6443insTA | dbSNP |
| 13 | g.32340798C>A | CA024042 | BRCA2 | c.6443C>A (p.Ser2148Tyr) c.6074C>A (p.Ser2025Tyr) n.6443C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340798C= | CA2082814545 | BRCA2 | c.6443C= (p.Ser2148=) c.6074C= (p.Ser2025=) n.6443C= | |
| 13 | g.32340798C>G | CA387789317 | BRCA2 | c.6443C>G (p.Ser2148Cys) c.6074C>G (p.Ser2025Cys) n.6443C>G | ClinVar dbSNP |
| 13 | g.32340798C>T | CA387789318 | BRCA2 | c.6443C>T (p.Ser2148Phe) c.6074C>T (p.Ser2025Phe) n.6443C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340798_32340799delinsCT | CA2082814539 | BRCA2 | c.6443_6444delinsCT (p.Ser2148=) c.6074_6075delinsCT (p.Ser2025=) n.6443_6444delinsCT | |
| 13 | g.32340798_32340800delinsCTA | CA2082814541 | BRCA2 | c.6443_6445delinsCTA (p.Ser2148=) c.6074_6076delinsCTA (p.Ser2025=) n.6443_6445delinsCTA | |
| 13 | g.32340798_32340802delinsCTATT | CA2082814544 | BRCA2 | c.6443_6447delinsCTATT (p.Ser2148=) c.6074_6078delinsCTATT (p.Ser2025=) n.6443_6447delinsCTATT | |
| 13 | g.32340799del | CA024048 | BRCA2 | c.6444del (p.Ile2149LeufsTer19) c.6075del (p.Ile2026LeufsTer19) n.6444del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340799T>A | CA483438870 | BRCA2 | c.6444T>A (p.Ser2148=) c.6075T>A (p.Ser2025=) n.6444T>A | dbSNP |
| 13 | g.32340799T>C | CA6940956 | BRCA2 | c.6444T>C (p.Ser2148=) c.6075T>C (p.Ser2025=) n.6444T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32340799T>G | CA483438869 | BRCA2 | c.6444T>G (p.Ser2148=) c.6075T>G (p.Ser2025=) n.6444T>G | |
| 13 | g.32340799T= | CA2082814576 | BRCA2 | c.6444T= (p.Ser2148=) c.6075T= (p.Ser2025=) n.6444T= | |
| 13 | g.32340799dup | CA024044 | BRCA2 | c.6444dup (p.Ile2149TyrfsTer2) c.6075dup (p.Ile2026TyrfsTer2) n.6444dup | ClinVar dbSNP |
| 13 | g.32340799_32340800delinsTA | CA2082814577 | BRCA2 | c.6444_6445delinsTA (p.Ser2148=) c.6075_6076delinsTA (p.Ser2025=) n.6444_6445delinsTA | |
| 13 | g.32340800_32340801dup | CA919242714 | BRCA2 | c.6445_6446dup (p.Lys2150LeufsTer19) c.6076_6077dup (p.Lys2027LeufsTer19) n.6445_6446dup | ClinVar dbSNP |
| 13 | g.32340800_32340801del | CA024050 | BRCA2 | c.6445_6446del (p.Ile2149Ter) c.6076_6077del (p.Ile2026Ter) n.6445_6446del | ClinVar dbSNP |
| 13 | g.32340799_32340802del | CA024046 | BRCA2 | c.6444_6447del (p.Ile2149LysfsTer18) c.6075_6078del (p.Ile2026LysfsTer18) n.6444_6447del | ClinVar dbSNP |
| 13 | g.32340799_32340804delinsTATTAA | CA2082814578 | BRCA2 | c.6444_6449delinsTATTAA (p.Ser2148=) c.6075_6080delinsTATTAA (p.Ser2025=) n.6444_6449delinsTATTAA | |
| 13 | g.32340799_32340813delinsTATTAAAGTTTCTCC | CA2082814573 | BRCA2 | c.6444_6458delinsTATTAAAGTTTCTCC (p.Ser2148=) c.6075_6089delinsTATTAAAGTTTCTCC (p.Ser2025=) n.6444_6458delinsTATTAAAGTTTCTCC | |
| 13 | g.32340800del | CA024054 | BRCA2 | c.6445del (p.Ile2149LeufsTer19) c.6076del (p.Ile2026LeufsTer19) n.6445del | ClinVar dbSNP |
| 13 | g.32340800A= | CA2082814613 | BRCA2 | c.6445A= (p.Ile2149=) c.6076A= (p.Ile2026=) n.6445A= | |
| 13 | g.32340800A>C | CA16619745 | BRCA2 | c.6445A>C (p.Ile2149Leu) c.6076A>C (p.Ile2026Leu) n.6445A>C | ClinVar dbSNP |
| 13 | g.32340800A>G | CA024052 | BRCA2 | c.6445A>G (p.Ile2149Val) c.6076A>G (p.Ile2026Val) n.6445A>G | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32340800A>T | CA387789319 | BRCA2 | c.6445A>T (p.Ile2149Phe) c.6076A>T (p.Ile2026Phe) n.6445A>T | |
| 13 | g.32340800dup | CA2580087906 | BRCA2 | c.6445dup (p.Ile2149AsnfsTer2) c.6076dup (p.Ile2026AsnfsTer2) n.6445dup | ClinVar |
| 13 | g.32340800_32340801delinsAT | CA2082814603 | BRCA2 | c.6445_6446delinsAT (p.Ile2149=) c.6076_6077delinsAT (p.Ile2026=) n.6445_6446delinsAT | |
| 13 | g.32340800_32340802delinsATT | CA2082814606 | BRCA2 | c.6445_6447delinsATT (p.Ile2149=) c.6076_6078delinsATT (p.Ile2026=) n.6445_6447delinsATT | |
| 13 | g.32340801_32340804del | CA2497029989 | BRCA2 | c.6446_6449del (p.Ile2149LysfsTer18) c.6077_6080del (p.Ile2026LysfsTer18) n.6446_6449del | |
| 13 | g.32340801_32340805del | CA024058 | BRCA2 | c.6446_6450del (p.Ile2149SerfsTer25) c.6077_6081del (p.Ile2026SerfsTer25) n.6446_6450del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340800_32340806del | CA916084397 | BRCA2 | c.6445_6451del (p.Ile2149PhefsTer17) c.6076_6082del (p.Ile2026PhefsTer17) n.6445_6451del | |
| 13 | g.32340802_32340815del | CA913188564 | BRCA2 | c.6447_6460del (p.Lys2150SerfsTer21) c.6078_6091del (p.Lys2027SerfsTer21) n.6447_6460del | ClinVar dbSNP |
| 13 | g.32340801T>A | CA387789320 | BRCA2 | c.6446T>A (p.Ile2149Asn) c.6077T>A (p.Ile2026Asn) n.6446T>A | dbSNP |
| 13 | g.32340801T>C | CA387789321 | BRCA2 | c.6446T>C (p.Ile2149Thr) c.6077T>C (p.Ile2026Thr) n.6446T>C | dbSNP |
| 13 | g.32340801T>G | CA387789322 | BRCA2 | c.6446T>G (p.Ile2149Ser) c.6077T>G (p.Ile2026Ser) n.6446T>G | ClinVar dbSNP |
| 13 | g.32340801T= | CA2082814630 | BRCA2 | c.6446T= (p.Ile2149=) c.6077T= (p.Ile2026=) n.6446T= | |
| 13 | g.32340801_32340802del | CA10579695 | BRCA2 | c.6446_6447del (p.Ile2149LysfsTer26) c.6077_6078del (p.Ile2026LysfsTer26) n.6446_6447del | ClinVar dbSNP |
| 13 | g.32340802del | CA10589378 | BRCA2 | c.6447del (p.Val2151PhefsTer17) c.6078del (p.Val2028PhefsTer17) n.6447del | ClinVar dbSNP |
| 13 | g.32340801_32340803delinsTTA | CA2082814632 | BRCA2 | c.6446_6448delinsTTA (p.Ile2149=) c.6077_6079delinsTTA (p.Ile2026=) n.6446_6448delinsTTA | |
| 13 | g.32340802T>A | CA483438871 | BRCA2 | c.6447T>A (p.Ile2149=) c.6078T>A (p.Ile2026=) n.6447T>A | dbSNP |
| 13 | g.32340802T>C | CA483438872 | BRCA2 | c.6447T>C (p.Ile2149=) c.6078T>C (p.Ile2026=) n.6447T>C | ClinVar dbSNP |
| 13 | g.32340802T>G | CA387789323 | BRCA2 | c.6447T>G (p.Ile2149Met) c.6078T>G (p.Ile2026Met) n.6447T>G | ClinVar dbSNP |
| 13 | g.32340802T= | CA2082814649 | BRCA2 | c.6447T= (p.Ile2149=) c.6078T= (p.Ile2026=) n.6447T= | |
| 13 | g.32340802_32340803del | CA024060 | BRCA2 | c.6447_6448del (p.Lys2150SerfsTer25) c.6078_6079del (p.Lys2027SerfsTer25) n.6447_6448del | ClinVar dbSNP |
| 13 | g.32340802_32340803dup | CA024063 | BRCA2 | c.6447_6448dup (p.Lys2150IlefsTer19) c.6078_6079dup (p.Lys2027IlefsTer19) n.6447_6448dup | ClinVar dbSNP |
| 13 | g.32340802_32340804delinsTAA | CA2082814651 | BRCA2 | c.6447_6449delinsTAA (p.Ile2149=) c.6078_6080delinsTAA (p.Ile2026=) n.6447_6449delinsTAA | |
| 13 | g.32340802_32340803insCAGA | CA2499222237 | BRCA2 | c.6447_6448insCAGA (p.Lys2150GlnfsTer27) c.6078_6079insCAGA (p.Lys2027GlnfsTer27) n.6447_6448insCAGA | dbSNP |
| 13 | g.32340803A= | CA2082814688 | BRCA2 | c.6448A= (p.Lys2150=) c.6079A= (p.Lys2027=) n.6448A= | |
| 13 | g.32340803A>C | CA387789324 | BRCA2 | c.6448A>C (p.Lys2150Gln) c.6079A>C (p.Lys2027Gln) n.6448A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340803A>G | CA387789325 | BRCA2 | c.6448A>G (p.Lys2150Glu) c.6079A>G (p.Lys2027Glu) n.6448A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340803A>T | CA387789326 | BRCA2 | c.6448A>T (p.Lys2150Ter) c.6079A>T (p.Lys2027Ter) n.6448A>T | dbSNP |
| 13 | g.32340805dup | CA024068 | BRCA2 | c.6450dup (p.Val2151SerfsTer25) c.6081dup (p.Val2028SerfsTer25) n.6450dup | ClinVar dbSNP |
| 13 | g.32340804_32340805dup | CA1139663237 | BRCA2 | c.6449_6450dup (p.Val2151LysfsTer18) c.6080_6081dup (p.Val2028LysfsTer18) n.6449_6450dup | ClinVar dbSNP |
| 13 | g.32340805del | CA10586558 | BRCA2 | c.6450del (p.Val2151PhefsTer17) c.6081del (p.Val2028PhefsTer17) n.6450del | ClinVar dbSNP |
| 13 | g.32340804_32340805del | CA024064 | BRCA2 | c.6449_6450del (p.Lys2150SerfsTer25) c.6080_6081del (p.Lys2027SerfsTer25) n.6449_6450del | ClinVar dbSNP |
| 13 | g.32340803_32340813delinsAAAGTTTCTCC | CA2082814681 | BRCA2 | c.6448_6458delinsAAAGTTTCTCC (p.Lys2150=) c.6079_6089delinsAAAGTTTCTCC (p.Lys2027=) n.6448_6458delinsAAAGTTTCTCC | |
| 13 | g.32340804A>C | CA387789328 | BRCA2 | c.6449A>C (p.Lys2150Thr) c.6080A>C (p.Lys2027Thr) n.6449A>C | |
| 13 | g.32340804A>G | CA387789327 | BRCA2 | c.6449A>G (p.Lys2150Arg) c.6080A>G (p.Lys2027Arg) n.6449A>G | |
| 13 | g.32340804A>T | CA387789329 | BRCA2 | c.6449A>T (p.Lys2150Ile) c.6080A>T (p.Lys2027Ile) n.6449A>T | dbSNP |
| 13 | g.32340804_32340805insTA | CA024067 | BRCA2 | c.6449_6450insTA (p.Lys2150AsnfsTer19) c.6080_6081insTA (p.Lys2027AsnfsTer19) n.6449_6450insTA | ClinVar dbSNP |
| 13 | g.32340805_32340814del | CA919242718 | BRCA2 | c.6450_6459del (p.Lys2150AsnfsTer15) c.6081_6090del (p.Lys2027AsnfsTer15) n.6450_6459del | dbSNP |
| 13 | g.32340805A= | CA2082814714 | BRCA2 | c.6450A= (p.Lys2150=) c.6081A= (p.Lys2027=) n.6450A= | |
| 13 | g.32340805A>C | CA10579696 | BRCA2 | c.6450A>C (p.Lys2150Asn) c.6081A>C (p.Lys2027Asn) n.6450A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340805A>G | CA483438993 | BRCA2 | c.6450A>G (p.Lys2150=) c.6081A>G (p.Lys2027=) n.6450A>G | ClinVar dbSNP |
| 13 | g.32340805A>T | CA387789330 | BRCA2 | c.6450A>T (p.Lys2150Asn) c.6081A>T (p.Lys2027Asn) n.6450A>T | dbSNP |
| 13 | g.32340806del | CA2499222238 | BRCA2 | c.6451del (p.Val2151PhefsTer17) c.6082del (p.Val2028PhefsTer17) n.6451del | |
| 13 | g.32340806G>A | CA387789331 | BRCA2 | c.6451G>A (p.Val2151Ile) c.6082G>A (p.Val2028Ile) n.6451G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340806G>C | CA387789332 | BRCA2 | c.6451G>C (p.Val2151Leu) c.6082G>C (p.Val2028Leu) n.6451G>C | dbSNP |
| 13 | g.32340806G= | CA2082814728 | BRCA2 | c.6451G= (p.Val2151=) c.6082G= (p.Val2028=) n.6451G= | |
| 13 | g.32340806G>T | CA387789333 | BRCA2 | c.6451G>T (p.Val2151Phe) c.6082G>T (p.Val2028Phe) n.6451G>T | |
| 13 | g.32340806_32340807insAA | CA2499222239 | BRCA2 | c.6451_6452insAA (p.Val2151GlufsTer18) c.6082_6083insAA (p.Val2028GlufsTer18) n.6451_6452insAA | |
| 13 | g.32340807T>A | CA387789335 | BRCA2 | c.6452T>A (p.Val2151Asp) c.6083T>A (p.Val2028Asp) n.6452T>A | dbSNP |
| 13 | g.32340807T>C | CA387789334 | BRCA2 | c.6452T>C (p.Val2151Ala) c.6083T>C (p.Val2028Ala) n.6452T>C | ClinVar dbSNP |
| 13 | g.32340807T>G | CA16619746 | BRCA2 | c.6452T>G (p.Val2151Gly) c.6083T>G (p.Val2028Gly) n.6452T>G | ClinVar dbSNP |
| 13 | g.32340807T= | CA2082814734 | BRCA2 | c.6452T= (p.Val2151=) c.6083T= (p.Val2028=) n.6452T= | |
| 13 | g.32340808T>A | CA483438998 | BRCA2 | c.6453T>A (p.Val2151=) c.6084T>A (p.Val2028=) n.6453T>A | dbSNP |
| 13 | g.32340808T>C | CA483438999 | BRCA2 | c.6453T>C (p.Val2151=) c.6084T>C (p.Val2028=) n.6453T>C | ClinVar dbSNP |
| 13 | g.32340808T>G | CA483439001 | BRCA2 | c.6453T>G (p.Val2151=) c.6084T>G (p.Val2028=) n.6453T>G | gnomAD v4 |
| 13 | g.32340809T>A | CA387789336 | BRCA2 | c.6454T>A (p.Ser2152Thr) c.6085T>A (p.Ser2029Thr) n.6454T>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340809T>C | CA387789337 | BRCA2 | c.6454T>C (p.Ser2152Pro) c.6085T>C (p.Ser2029Pro) n.6454T>C | ClinVar dbSNP |
| 13 | g.32340809T>G | CA387789338 | BRCA2 | c.6454T>G (p.Ser2152Ala) c.6085T>G (p.Ser2029Ala) n.6454T>G | |
| 13 | g.32340809T= | CA2082814749 | BRCA2 | c.6454T= (p.Ser2152=) c.6085T= (p.Ser2029=) n.6454T= |