| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32338895_32338902del | CA2566381298 | BRCA2 | c.4540_4547del (p.Glu1514GlnfsTer12) c.4171_4178del (p.Glu1391GlnfsTer12) n.4540_4547del | |
| 13 | g.32338902_32338908dup | CA2582341845 | BRCA2 | c.4547_4553dup (p.Glu1518AspfsTer13) c.4178_4184dup (p.Glu1395AspfsTer13) n.4547_4553dup | ClinVar |
| 13 | g.32338902T>A | CA020395 | BRCA2 | c.4547T>A (p.Ile1516Asn) c.4178T>A (p.Ile1393Asn) n.4547T>A | ClinVar dbSNP ExAC |
| 13 | g.32338902T>C | CA387781773 | BRCA2 | c.4547T>C (p.Ile1516Thr) c.4178T>C (p.Ile1393Thr) n.4547T>C | |
| 13 | g.32338902T>G | CA387781774 | BRCA2 | c.4547T>G (p.Ile1516Ser) c.4178T>G (p.Ile1393Ser) n.4547T>G | dbSNP |
| 13 | g.32338902T= | CA2082813180 | BRCA2 | c.4547T= (p.Ile1516=) c.4178T= (p.Ile1393=) n.4547T= | |
| 13 | g.32338902_32338903delinsTC | CA2082813191 | BRCA2 | c.4547_4548delinsTC (p.Ile1516=) c.4178_4179delinsTC (p.Ile1393=) n.4547_4548delinsTC | |
| 13 | g.32338902_32338904delinsTCA | CA2082813189 | BRCA2 | c.4547_4549delinsTCA (p.Ile1516=) c.4178_4180delinsTCA (p.Ile1393=) n.4547_4549delinsTCA | |
| 13 | g.32338903del | CA1139663211 | BRCA2 | c.4548del (p.Glu1518AsnfsTer25) c.4179del (p.Glu1395AsnfsTer25) n.4548del | ClinVar dbSNP |
| 13 | g.32338903C>A | CA483438024 | BRCA2 | c.4548C>A (p.Ile1516=) c.4179C>A (p.Ile1393=) n.4548C>A | dbSNP |
| 13 | g.32338903C= | CA2082813206 | BRCA2 | c.4548C= (p.Ile1516=) c.4179C= (p.Ile1393=) n.4548C= | |
| 13 | g.32338903C>G | CA10575920 | BRCA2 | c.4548C>G (p.Ile1516Met) c.4179C>G (p.Ile1393Met) n.4548C>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338903C>T | CA483438026 | BRCA2 | c.4548C>T (p.Ile1516=) c.4179C>T (p.Ile1393=) n.4548C>T | dbSNP |
| 13 | g.32338903_32338904del | CA16619710 | BRCA2 | c.4548_4549del (p.Lys1517ArgfsTer11) c.4179_4180del (p.Lys1394ArgfsTer11) n.4548_4549del | ClinVar dbSNP |
| 13 | g.32338903_32338907delinsCAAAG | CA2082813201 | BRCA2 | c.4548_4552delinsCAAAG (p.Ile1516=) c.4179_4183delinsCAAAG (p.Ile1393=) n.4548_4552delinsCAAAG | |
| 13 | g.32338903_32338946delinsCAAAGAACCTACTCTATTGGGTTTTCATACAGCTAGCGGGAAAA | CA2082813202 | BRCA2 | c.4548_4591delinsCAAAGAACCTACTCTATTGGGTTTTCATACAGCTAGCGGGAAAA (p.Ile1516=) c.4179_4222delinsCAAAGAACCTACTCTATTGGGTTTTCATACAGCTAGCGGGAAAA (p.Ile1393=) n.4548_4591delinsCAAAGAACCTACTCTATTGGGTTTTCATACAGCTAGCGGGAAAA | |
| 13 | g.32338904A= | CA2082813226 | BRCA2 | c.4549A= (p.Lys1517=) c.4180A= (p.Lys1394=) n.4549A= | |
| 13 | g.32338904A>C | CA387781777 | BRCA2 | c.4549A>C (p.Lys1517Gln) c.4180A>C (p.Lys1394Gln) n.4549A>C | |
| 13 | g.32338904A>G | CA020401 | BRCA2 | c.4549A>G (p.Lys1517Glu) c.4180A>G (p.Lys1394Glu) n.4549A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338904A>T | CA387781781 | BRCA2 | c.4549A>T (p.Lys1517Ter) c.4180A>T (p.Lys1394Ter) n.4549A>T | dbSNP |
| 13 | g.32338906_32338909del | CA020410 | BRCA2 | c.4551_4554del (p.Lys1517AsnfsTer25) c.4182_4185del (p.Lys1394AsnfsTer25) n.4551_4554del | ClinVar dbSNP |
| 13 | g.32338906_32338948del | CA658798091 | BRCA2 | c.4551_4593del (p.Glu1518LeufsTer11) c.4182_4224del (p.Glu1395LeufsTer11) n.4551_4593del | ClinVar dbSNP |
| 13 | g.32338905A= | CA2082813246 | BRCA2 | c.4550A= (p.Lys1517=) c.4181A= (p.Lys1394=) n.4550A= | |
| 13 | g.32338905A>C | CA387781784 | BRCA2 | c.4550A>C (p.Lys1517Thr) c.4181A>C (p.Lys1394Thr) n.4550A>C | |
| 13 | g.32338905A>G | CA020405 | BRCA2 | c.4550A>G (p.Lys1517Arg) c.4181A>G (p.Lys1394Arg) n.4550A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338905A>T | CA387781786 | BRCA2 | c.4550A>T (p.Lys1517Ile) c.4181A>T (p.Lys1394Ile) n.4550A>T | dbSNP |
| 13 | g.32338905_32338914del | CA645585170 | BRCA2 | c.4550_4559del (p.Lys1517IlefsTer23) c.4181_4190del (p.Lys1394IlefsTer23) n.4550_4559del | COSMIC |
| 13 | g.32338906A>C | CA387781788 | BRCA2 | c.4551A>C (p.Lys1517Asn) c.4182A>C (p.Lys1394Asn) n.4551A>C | |
| 13 | g.32338906A>G | CA483438030 | BRCA2 | c.4551A>G (p.Lys1517=) c.4182A>G (p.Lys1394=) n.4551A>G | |
| 13 | g.32338906A>T | CA387781790 | BRCA2 | c.4551A>T (p.Lys1517Asn) c.4182A>T (p.Lys1394Asn) n.4551A>T | dbSNP |
| 13 | g.32338906_32338907delinsAG | CA2082813252 | BRCA2 | c.4551_4552delinsAG (p.Lys1517=) c.4182_4183delinsAG (p.Lys1394=) n.4551_4552delinsAG | |
| 13 | g.32338907del | CA020414 | BRCA2 | c.4552del (p.Glu1518AsnfsTer25) c.4183del (p.Glu1395AsnfsTer25) n.4552del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338907G>A | CA387781792 | BRCA2 | c.4552G>A (p.Glu1518Lys) c.4183G>A (p.Glu1395Lys) n.4552G>A | dbSNP |
| 13 | g.32338907G>C | CA387781794 | BRCA2 | c.4552G>C (p.Glu1518Gln) c.4183G>C (p.Glu1395Gln) n.4552G>C | dbSNP COSMIC COSMIC |
| 13 | g.32338907G= | CA2082813269 | BRCA2 | c.4552G= (p.Glu1518=) c.4183G= (p.Glu1395=) n.4552G= | |
| 13 | g.32338907G>T | CA020419 | BRCA2 | c.4552G>T (p.Glu1518Ter) c.4183G>T (p.Glu1395Ter) n.4552G>T | ClinVar dbSNP ExAC COSMIC |
| 13 | g.32338907_32338908delinsGA | CA2082813266 | BRCA2 | c.4552_4553delinsGA (p.Glu1518=) c.4183_4184delinsGA (p.Glu1395=) n.4552_4553delinsGA | |
| 13 | g.32338908A>C | CA387781798 | BRCA2 | c.4553A>C (p.Glu1518Ala) c.4184A>C (p.Glu1395Ala) n.4553A>C | |
| 13 | g.32338908A>G | CA387781800 | BRCA2 | c.4553A>G (p.Glu1518Gly) c.4184A>G (p.Glu1395Gly) n.4553A>G | dbSNP |
| 13 | g.32338908A>T | CA387781802 | BRCA2 | c.4553A>T (p.Glu1518Val) c.4184A>T (p.Glu1395Val) n.4553A>T | dbSNP |
| 13 | g.32338909del | CA020425 | BRCA2 | c.4554del (p.Glu1518AspfsTer25) c.4185del (p.Glu1395AspfsTer25) n.4554del | ClinVar dbSNP |
| 13 | g.32338909A= | CA2082813283 | BRCA2 | c.4554A= (p.Glu1518=) c.4185A= (p.Glu1395=) n.4554A= | |
| 13 | g.32338909A>C | CA387781806 | BRCA2 | c.4554A>C (p.Glu1518Asp) c.4185A>C (p.Glu1395Asp) n.4554A>C | ClinVar dbSNP |
| 13 | g.32338909A>G | CA6940790 | BRCA2 | c.4554A>G (p.Glu1518=) c.4185A>G (p.Glu1395=) n.4554A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338909A>T | CA387781805 | BRCA2 | c.4554A>T (p.Glu1518Asp) c.4185A>T (p.Glu1395Asp) n.4554A>T | dbSNP |
| 13 | g.32338909_32338910delinsAC | CA2082813287 | BRCA2 | c.4554_4555delinsAC (p.Glu1518=) c.4185_4186delinsAC (p.Glu1395=) n.4554_4555delinsAC | |
| 13 | g.32338911_32338914del | CA2499222171 | BRCA2 | c.4556_4559del (p.Pro1519LeufsTer23) c.4187_4190del (p.Pro1396LeufsTer23) n.4556_4559del | ClinVar dbSNP |
| 13 | g.32338909_32338918delinsCCTACTCTG | CA2740097655 | BRCA2 | c.4554_4563delinsCCTACTCTG (p.Glu1518AspfsTer25) c.4185_4194delinsCCTACTCTG (p.Glu1395AspfsTer25) n.4554_4563delinsCCTACTCTG | ClinVar |
| 13 | g.32338910C>A | CA387781812 | BRCA2 | c.4555C>A (p.Pro1519Thr) c.4186C>A (p.Pro1396Thr) n.4555C>A | dbSNP |
| 13 | g.32338910C= | CA2082813308 | BRCA2 | c.4555C= (p.Pro1519=) c.4186C= (p.Pro1396=) n.4555C= |