Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32338902_32338908dup | CA2582341845 | BRCA2 | c.4547_4553dup (p.Glu1518AspfsTer13) c.4178_4184dup (p.Glu1395AspfsTer13) n.4547_4553dup | ClinVar |
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.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= | |
13 | g.32338910C>G | CA387781811 | BRCA2 | c.4555C>G (p.Pro1519Ala) c.4186C>G (p.Pro1396Ala) n.4555C>G | ClinVar dbSNP |
13 | g.32338910C>T | CA387781810 | BRCA2 | c.4555C>T (p.Pro1519Ser) c.4186C>T (p.Pro1396Ser) n.4555C>T | dbSNP |
13 | g.32338910_32338911del | CA913188583 | BRCA2 | c.4555_4556del (p.Pro1519TyrfsTer9) c.4186_4187del (p.Pro1396TyrfsTer9) n.4555_4556del | |
13 | g.32338911del | CA020432 | BRCA2 | c.4556del (p.Pro1519LeufsTer24) c.4187del (p.Pro1396LeufsTer24) n.4556del | ClinVar dbSNP |
13 | g.32338911C>A | CA387781814 | BRCA2 | c.4556C>A (p.Pro1519His) c.4187C>A (p.Pro1396His) n.4556C>A | ClinVar dbSNP |
13 | g.32338911C= | CA2082813321 | BRCA2 | c.4556C= (p.Pro1519=) c.4187C= (p.Pro1396=) n.4556C= | |
13 | g.32338911C>G | CA020427 | BRCA2 | c.4556C>G (p.Pro1519Arg) c.4187C>G (p.Pro1396Arg) n.4556C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338911C>T | CA387781816 | BRCA2 | c.4556C>T (p.Pro1519Leu) c.4187C>T (p.Pro1396Leu) n.4556C>T | dbSNP |
13 | g.32338912T>A | CA483438039 | BRCA2 | c.4557T>A (p.Pro1519=) c.4188T>A (p.Pro1396=) n.4557T>A | dbSNP |
13 | g.32338912T>C | CA16606425 | BRCA2 | c.4557T>C (p.Pro1519=) c.4188T>C (p.Pro1396=) n.4557T>C | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32338912T>G | CA483438040 | BRCA2 | c.4557T>G (p.Pro1519=) c.4188T>G (p.Pro1396=) n.4557T>G | ClinVar |
13 | g.32338912T= | CA2082813330 | BRCA2 | c.4557T= (p.Pro1519=) c.4188T= (p.Pro1396=) n.4557T= | |
13 | g.32338912_32338913insGTTGGTTTTTCATACAGCTAGCGGGAAACCAT | CA1139771117 | BRCA2 | c.4557_4558insGTTGGTTTTTCATACAGCTAGCGGGAAACCAT (p.Thr1520ValfsTer7) c.4188_4189insGTTGGTTTTTCATACAGCTAGCGGGAAACCAT (p.Thr1397ValfsTer7) n.4557_4558insGTTGGTTTTTCATACAGCTAGCGGGAAACCAT | |
13 | g.32338912_32338913dup | CA2798719752 | BRCA2 | c.4557_4558dup (p.Thr1520IlefsTer24) c.4188_4189dup (p.Thr1397IlefsTer24) n.4557_4558dup | |
13 | g.32338913A= | CA2082813357 | BRCA2 | c.4558A= (p.Thr1520=) c.4189A= (p.Thr1397=) n.4558A= | |
13 | g.32338913A>C | CA387781818 | BRCA2 | c.4558A>C (p.Thr1520Pro) c.4189A>C (p.Thr1397Pro) n.4558A>C | dbSNP |
13 | g.32338913A>G | CA020437 | BRCA2 | c.4558A>G (p.Thr1520Ala) c.4189A>G (p.Thr1397Ala) n.4558A>G | ClinVar dbSNP gnomAD v4 |