UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.53211114_53211118delinsGCAGA | CA1167215423 | CPT2 | c.1440_1444delinsGCAGA (p.Gly480=) c.*1426_*1430delinsGCAGA (n.*1426_*1430delinsGCAGA) c.*1087_*1091delinsGCAGA (n.*1087_*1091delinsGCAGA) c.341-2150_341-2146delinsGCAGA (n.341-2150_341-2146delinsGCAGA) n.3640_3644delinsGCAGA | |
| 1 | g.53211118_53211121del | CA859204 | CPT2 | c.1444_1447del (p.Thr482TrpfsTer?) c.*1430_*1433del (n.*1430_*1433del) c.*1091_*1094del (n.*1091_*1094del) c.341-2146_341-2143del (n.341-2146_341-2143del) n.3644_3647del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.53211117_53211683delinsGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCT | CA1167215424 | CPT2 | c.1443_1645+364delinsGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCT c.1443_1576+433delinsGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCT c.*1429_*1631+364delinsGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCT c.*1090_*1292+364delinsGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCT c.1443_1695+314delinsGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCT c.341-2147_341-1581delinsGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCT (n.341-2147_341-1581delinsGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCT) | |
| 1 | g.53211118A>C | CA340395909 | CPT2 | c.1444A>C (p.Thr482Pro) c.*1430A>C (n.*1430A>C) c.*1091A>C (n.*1091A>C) c.341-2146A>C (n.341-2146A>C) n.3644A>C | |
| 1 | g.53211118A>G | CA340395890 | CPT2 | c.1444A>G (p.Thr482Ala) c.*1430A>G (n.*1430A>G) c.*1091A>G (n.*1091A>G) c.341-2146A>G (n.341-2146A>G) n.3644A>G | |
| 1 | g.53211118A>T | CA340395889 | CPT2 | c.1444A>T (p.Thr482Ser) c.*1430A>T (n.*1430A>T) c.*1091A>T (n.*1091A>T) c.341-2146A>T (n.341-2146A>T) n.3644A>T | |
| 1 | g.53211118_53211683del | CA916082033 | CPT2 | c.1444_1645+364del c.1444_1576+433del c.*1430_*1631+364del c.*1091_*1292+364del c.1444_1695+314del c.341-2146_341-1581del (n.341-2146_341-1581del) | ClinVar dbSNP |
| 1 | g.53211119C>A | CA340395913 | CPT2 | c.1445C>A (p.Thr482Lys) c.*1431C>A (n.*1431C>A) c.*1092C>A (n.*1092C>A) c.341-2145C>A (n.341-2145C>A) n.3645C>A | |
| 1 | g.53211119C>G | CA340395915 | CPT2 | c.1445C>G (p.Thr482Arg) c.*1431C>G (n.*1431C>G) c.*1092C>G (n.*1092C>G) c.341-2145C>G (n.341-2145C>G) n.3645C>G | gnomAD v4 |
| 1 | g.53211119C>T | CA340395917 | CPT2 | c.1445C>T (p.Thr482Ile) c.*1431C>T (n.*1431C>T) c.*1092C>T (n.*1092C>T) c.341-2145C>T (n.341-2145C>T) n.3645C>T | |
| 1 | g.53211119_53211120insCCCC | CA2645708999 | CPT2 | c.1445_1446insCCCC (p.Val483ProfsTer9) c.*1431_*1432insCCCC (n.*1431_*1432insCCCC) c.*1092_*1093insCCCC (n.*1092_*1093insCCCC) c.341-2145_341-2144insCCCC (n.341-2145_341-2144insCCCC) n.3645_3646insCCCC | gnomAD v4 |
| 1 | g.53211119_53211121del | CA913075690 | CPT2 | c.1445_1447del (p.Thr482_Val483delinsMet) c.*1431_*1433del (n.*1431_*1433del) c.*1092_*1094del (n.*1092_*1094del) c.341-2145_341-2143del (n.341-2145_341-2143del) n.3645_3647del | |
| 1 | g.53211119_53211121delinsCAG | CA1167215426 | CPT2 | c.1445_1447delinsCAG (p.Thr482=) c.*1431_*1433delinsCAG (n.*1431_*1433delinsCAG) c.*1092_*1094delinsCAG (n.*1092_*1094delinsCAG) c.341-2145_341-2143delinsCAG (n.341-2145_341-2143delinsCAG) n.3645_3647delinsCAG | |
| 1 | g.53211120A= | CA1167215427 | CPT2 | c.1446A= (p.Thr482=) c.*1432A= (n.*1432A=) c.*1093A= (n.*1093A=) c.341-2144A= (n.341-2144A=) n.3646A= | |
| 1 | g.53211120A>C | CA417875781 | CPT2 | c.1446A>C (p.Thr482=) c.*1432A>C (n.*1432A>C) c.*1093A>C (n.*1093A>C) c.341-2144A>C (n.341-2144A>C) n.3646A>C | |
| 1 | g.53211120A>G | CA417875782 | CPT2 | c.1446A>G (p.Thr482=) c.*1432A>G (n.*1432A>G) c.*1093A>G (n.*1093A>G) c.341-2144A>G (n.341-2144A>G) n.3646A>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.53211120A>T | CA417875783 | CPT2 | c.1446A>T (p.Thr482=) c.*1432A>T (n.*1432A>T) c.*1093A>T (n.*1093A>T) c.341-2144A>T (n.341-2144A>T) n.3646A>T | |
| 1 | g.53211120_53211121del | CA658821061 | CPT2 | c.1446_1447del (p.Val483GlyfsTer7) c.*1432_*1433del (n.*1432_*1433del) c.*1093_*1094del (n.*1093_*1094del) c.341-2144_341-2143del (n.341-2144_341-2143del) n.3646_3647del | ClinVar dbSNP |
| 1 | g.53211121G>A | CA340395918 | CPT2 | c.1447G>A (p.Val483Met) c.*1433G>A (n.*1433G>A) c.*1094G>A (n.*1094G>A) c.341-2143G>A (n.341-2143G>A) n.3647G>A | |
| 1 | g.53211121G>C | CA340395921 | CPT2 | c.1447G>C (p.Val483Leu) c.*1433G>C (n.*1433G>C) c.*1094G>C (n.*1094G>C) c.341-2143G>C (n.341-2143G>C) n.3647G>C | gnomAD v4 |
| 1 | g.53211121G>T | CA340395922 | CPT2 | c.1447G>T (p.Val483Leu) c.*1433G>T (n.*1433G>T) c.*1094G>T (n.*1094G>T) c.341-2143G>T (n.341-2143G>T) n.3647G>T | |
| 1 | g.53211121_53211122insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC | CA2645709010 | CPT2 | c.1447_1448insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC (p.Val483GlyfsTer?) c.*1433_*1434insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC (n.*1433_*1434insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC) c.*1094_*1095insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC (n.*1094_*1095insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC) c.341-2143_341-2142insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC (n.341-2143_341-2142insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC) n.3647_3648insGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACC | gnomAD v4 |
| 1 | g.53211122T>A | CA340395929 | CPT2 | c.1448T>A (p.Val483Glu) c.*1434T>A (n.*1434T>A) c.*1095T>A (n.*1095T>A) c.341-2142T>A (n.341-2142T>A) n.3648T>A | |
| 1 | g.53211122T>C | CA340395928 | CPT2 | c.1448T>C (p.Val483Ala) c.*1434T>C (n.*1434T>C) c.*1095T>C (n.*1095T>C) c.341-2142T>C (n.341-2142T>C) n.3648T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.53211122T>G | CA340395925 | CPT2 | c.1448T>G (p.Val483Gly) c.*1434T>G (n.*1434T>G) c.*1095T>G (n.*1095T>G) c.341-2142T>G (n.341-2142T>G) n.3648T>G | |
| 1 | g.53211122T= | CA1167215428 | CPT2 | c.1448T= (p.Val483=) c.*1434T= (n.*1434T=) c.*1095T= (n.*1095T=) c.341-2142T= (n.341-2142T=) n.3648T= | |
| 1 | g.53211123G>A | CA417875784 | CPT2 | c.1449G>A (p.Val483=) c.*1435G>A (n.*1435G>A) c.*1096G>A (n.*1096G>A) c.341-2141G>A (n.341-2141G>A) n.3649G>A | |
| 1 | g.53211123G>C | CA417875785 | CPT2 | c.1449G>C (p.Val483=) c.*1435G>C (n.*1435G>C) c.*1096G>C (n.*1096G>C) c.341-2141G>C (n.341-2141G>C) n.3649G>C | |
| 1 | g.53211123G>T | CA417875786 | CPT2 | c.1449G>T (p.Val483=) c.*1435G>T (n.*1435G>T) c.*1096G>T (n.*1096G>T) c.341-2141G>T (n.341-2141G>T) n.3649G>T | |
| 1 | g.53211124G>A | CA340395933 | CPT2 | c.1450G>A (p.Ala484Thr) c.*1436G>A (n.*1436G>A) c.*1097G>A (n.*1097G>A) c.341-2140G>A (n.341-2140G>A) n.3650G>A | |
| 1 | g.53211124G>C | CA340395936 | CPT2 | c.1450G>C (p.Ala484Pro) c.*1436G>C (n.*1436G>C) c.*1097G>C (n.*1097G>C) c.341-2140G>C (n.341-2140G>C) n.3650G>C | dbSNP |
| 1 | g.53211124G= | CA1167215429 | CPT2 | c.1450G= (p.Ala484=) c.*1436G= (n.*1436G=) c.*1097G= (n.*1097G=) c.341-2140G= (n.341-2140G=) n.3650G= | |
| 1 | g.53211124G>T | CA340395938 | CPT2 | c.1450G>T (p.Ala484Ser) c.*1436G>T (n.*1436G>T) c.*1097G>T (n.*1097G>T) c.341-2140G>T (n.341-2140G>T) n.3650G>T | |
| 1 | g.53211125C>A | CA340395940 | CPT2 | c.1451C>A (p.Ala484Asp) c.*1437C>A (n.*1437C>A) c.*1098C>A (n.*1098C>A) c.341-2139C>A (n.341-2139C>A) n.3651C>A | |
| 1 | g.53211125C= | CA1143977600 | CPT2 | c.1451C= (p.Ala484=) c.*1437C= (n.*1437C=) c.*1098C= (n.*1098C=) c.341-2139C= (n.341-2139C=) n.3651C= | |
| 1 | g.53211125C>G | CA859206 | CPT2 | c.1451C>G (p.Ala484Gly) c.*1437C>G (n.*1437C>G) c.*1098C>G (n.*1098C>G) c.341-2139C>G (n.341-2139C>G) n.3651C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.53211125C>T | CA340395944 | CPT2 | c.1451C>T (p.Ala484Val) c.*1437C>T (n.*1437C>T) c.*1098C>T (n.*1098C>T) c.341-2139C>T (n.341-2139C>T) n.3651C>T | |
| 1 | g.53211126C>A | CA417875787 | CPT2 | c.1452C>A (p.Ala484=) c.*1438C>A (n.*1438C>A) c.*1099C>A (n.*1099C>A) c.341-2138C>A (n.341-2138C>A) n.3652C>A | |
| 1 | g.53211126C>G | CA417875789 | CPT2 | c.1452C>G (p.Ala484=) c.*1438C>G (n.*1438C>G) c.*1099C>G (n.*1099C>G) c.341-2138C>G (n.341-2138C>G) n.3652C>G | |
| 1 | g.53211126C>T | CA417875788 | CPT2 | c.1452C>T (p.Ala484=) c.*1438C>T (n.*1438C>T) c.*1099C>T (n.*1099C>T) c.341-2138C>T (n.341-2138C>T) n.3652C>T | |
| 1 | g.53211127A>C | CA340395948 | CPT2 | c.1453A>C (p.Thr485Pro) c.*1439A>C (n.*1439A>C) c.*1100A>C (n.*1100A>C) c.341-2137A>C (n.341-2137A>C) n.3653A>C | |
| 1 | g.53211127A>G | CA340395956 | CPT2 | c.1453A>G (p.Thr485Ala) c.*1439A>G (n.*1439A>G) c.*1100A>G (n.*1100A>G) c.341-2137A>G (n.341-2137A>G) n.3653A>G | |
| 1 | g.53211127A>T | CA340395951 | CPT2 | c.1453A>T (p.Thr485Ser) c.*1439A>T (n.*1439A>T) c.*1100A>T (n.*1100A>T) c.341-2137A>T (n.341-2137A>T) n.3653A>T | |
| 1 | g.53211129_53211132dup | CA2695198036 | CPT2 | c.1455_1458dup (p.Glu487LeufsTer5) c.*1441_*1444dup (n.*1441_*1444dup) c.*1102_*1105dup (n.*1102_*1105dup) c.341-2135_341-2132dup (n.341-2135_341-2132dup) n.3655_3658dup | ClinVar |
| 1 | g.53211128C>A | CA340395960 | CPT2 | c.1454C>A (p.Thr485Asn) c.*1440C>A (n.*1440C>A) c.*1101C>A (n.*1101C>A) c.341-2136C>A (n.341-2136C>A) n.3654C>A | |
| 1 | g.53211128C= | CA1167215430 | CPT2 | c.1454C= (p.Thr485=) c.*1440C= (n.*1440C=) c.*1101C= (n.*1101C=) c.341-2136C= (n.341-2136C=) n.3654C= | |
| 1 | g.53211128C>G | CA340395964 | CPT2 | c.1454C>G (p.Thr485Ser) c.*1440C>G (n.*1440C>G) c.*1101C>G (n.*1101C>G) c.341-2136C>G (n.341-2136C>G) n.3654C>G | dbSNP |
| 1 | g.53211128C>T | CA340395967 | CPT2 | c.1454C>T (p.Thr485Ile) c.*1440C>T (n.*1440C>T) c.*1101C>T (n.*1101C>T) c.341-2136C>T (n.341-2136C>T) n.3654C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.53211129C>A | CA417875790 | CPT2 | c.1455C>A (p.Thr485=) c.*1441C>A (n.*1441C>A) c.*1102C>A (n.*1102C>A) c.341-2135C>A (n.341-2135C>A) n.3655C>A | |
| 1 | g.53211129C>G | CA417875791 | CPT2 | c.1455C>G (p.Thr485=) c.*1441C>G (n.*1441C>G) c.*1102C>G (n.*1102C>G) c.341-2135C>G (n.341-2135C>G) n.3655C>G |