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.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.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.53211180_53211201delinsCCGCCCGGCCTCCGTCTATACA | CA1167215449 | CPT2 | c.1506_1527delinsCCGCCCGGCCTCCGTCTATACA (p.Ile502=) c.*1492_*1513delinsCCGCCCGGCCTCCGTCTATACA (n.*1492_*1513delinsCCGCCCGGCCTCCGTCTATACA) c.*1153_*1174delinsCCGCCCGGCCTCCGTCTATACA (n.*1153_*1174delinsCCGCCCGGCCTCCGTCTATACA) c.341-2084_341-2063delinsCCGCCCGGCCTCCGTCTATACA (n.341-2084_341-2063delinsCCGCCCGGCCTCCGTCTATACA) n.3706_3727delinsCCGCCCGGCCTCCGTCTATACA | |
| 1 | g.53211181_53211201del | CA859223 | CPT2 | c.1507_1527del (p.Arg503_Thr509del) c.*1493_*1513del (n.*1493_*1513del) c.*1154_*1174del (n.*1154_*1174del) c.341-2083_341-2063del (n.341-2083_341-2063del) n.3707_3727del | dbSNP ExAC |
| 1 | g.53211194T>A | CA340396665 | CPT2 | c.1520T>A (p.Val507Asp) c.*1506T>A (n.*1506T>A) c.*1167T>A (n.*1167T>A) c.341-2070T>A (n.341-2070T>A) n.3720T>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.53211194T>C | CA340396667 | CPT2 | c.1520T>C (p.Val507Ala) c.*1506T>C (n.*1506T>C) c.*1167T>C (n.*1167T>C) c.341-2070T>C (n.341-2070T>C) n.3720T>C | |
| 1 | g.53211194T>G | CA340396669 | CPT2 | c.1520T>G (p.Val507Gly) c.*1506T>G (n.*1506T>G) c.*1167T>G (n.*1167T>G) c.341-2070T>G (n.341-2070T>G) n.3720T>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.53211194T= | CA1167215453 | CPT2 | c.1520T= (p.Val507=) c.*1506T= (n.*1506T=) c.*1167T= (n.*1167T=) c.341-2070T= (n.341-2070T=) n.3720T= | |
| 1 | g.53211195C>A | CA417639567 | CPT2 | c.1521C>A (p.Val507=) c.*1507C>A (n.*1507C>A) c.*1168C>A (n.*1168C>A) c.341-2069C>A (n.341-2069C>A) n.3721C>A | ClinVar |
| 1 | g.53211195C>G | CA417639568 | CPT2 | c.1521C>G (p.Val507=) c.*1507C>G (n.*1507C>G) c.*1168C>G (n.*1168C>G) c.341-2069C>G (n.341-2069C>G) n.3721C>G | |
| 1 | g.53211195C>T | CA417639569 | CPT2 | c.1521C>T (p.Val507=) c.*1507C>T (n.*1507C>T) c.*1168C>T (n.*1168C>T) c.341-2069C>T (n.341-2069C>T) n.3721C>T | |
| 1 | g.53211196T>A | CA340396671 | CPT2 | c.1522T>A (p.Tyr508Asn) c.*1508T>A (n.*1508T>A) c.*1169T>A (n.*1169T>A) c.341-2068T>A (n.341-2068T>A) n.3722T>A | |
| 1 | g.53211196T>C | CA340396672 | CPT2 | c.1522T>C (p.Tyr508His) c.*1508T>C (n.*1508T>C) c.*1169T>C (n.*1169T>C) c.341-2068T>C (n.341-2068T>C) n.3722T>C | |
| 1 | g.53211196T>G | CA340396674 | CPT2 | c.1522T>G (p.Tyr508Asp) c.*1508T>G (n.*1508T>G) c.*1169T>G (n.*1169T>G) c.341-2068T>G (n.341-2068T>G) n.3722T>G | |
| 1 | g.53211197A= | CA1167215454 | CPT2 | c.1523A= (p.Tyr508=) c.*1509A= (n.*1509A=) c.*1170A= (n.*1170A=) c.341-2067A= (n.341-2067A=) n.3723A= | |
| 1 | g.53211197A>C | CA340396678 | CPT2 | c.1523A>C (p.Tyr508Ser) c.*1509A>C (n.*1509A>C) c.*1170A>C (n.*1170A>C) c.341-2067A>C (n.341-2067A>C) n.3723A>C | gnomAD v4 |
| 1 | g.53211197A>G | CA22640010 | CPT2 | c.1523A>G (p.Tyr508Cys) c.*1509A>G (n.*1509A>G) c.*1170A>G (n.*1170A>G) c.341-2067A>G (n.341-2067A>G) n.3723A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.53211197A>T | CA340396677 | CPT2 | c.1523A>T (p.Tyr508Phe) c.*1509A>T (n.*1509A>T) c.*1170A>T (n.*1170A>T) c.341-2067A>T (n.341-2067A>T) n.3723A>T | |
| 1 | g.53211198T>A | CA340396679 | CPT2 | c.1524T>A (p.Tyr508Ter) c.*1510T>A (n.*1510T>A) c.*1171T>A (n.*1171T>A) c.341-2066T>A (n.341-2066T>A) n.3724T>A | |
| 1 | g.53211198T>C | CA417639570 | CPT2 | c.1524T>C (p.Tyr508=) c.*1510T>C (n.*1510T>C) c.*1171T>C (n.*1171T>C) c.341-2066T>C (n.341-2066T>C) n.3724T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.53211198T>G | CA340396681 | CPT2 | c.1524T>G (p.Tyr508Ter) c.*1510T>G (n.*1510T>G) c.*1171T>G (n.*1171T>G) c.341-2066T>G (n.341-2066T>G) n.3724T>G | |
| 1 | g.53211198T= | CA1167215455 | CPT2 | c.1524T= (p.Tyr508=) c.*1510T= (n.*1510T=) c.*1171T= (n.*1171T=) c.341-2066T= (n.341-2066T=) n.3724T= | |
| 1 | g.53211199A= | CA1167215456 | CPT2 | c.1525A= (p.Thr509=) c.*1511A= (n.*1511A=) c.*1172A= (n.*1172A=) c.341-2065A= (n.341-2065A=) n.3725A= | |
| 1 | g.53211199A>C | CA340396682 | CPT2 | c.1525A>C (p.Thr509Pro) c.*1511A>C (n.*1511A>C) c.*1172A>C (n.*1172A>C) c.341-2065A>C (n.341-2065A>C) n.3725A>C | |
| 1 | g.53211199A>G | CA340396684 | CPT2 | c.1525A>G (p.Thr509Ala) c.*1511A>G (n.*1511A>G) c.*1172A>G (n.*1172A>G) c.341-2065A>G (n.341-2065A>G) n.3725A>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.53211199A>T | CA340396685 | CPT2 | c.1525A>T (p.Thr509Ser) c.*1511A>T (n.*1511A>T) c.*1172A>T (n.*1172A>T) c.341-2065A>T (n.341-2065A>T) n.3725A>T | dbSNP |
| 1 | g.53211200C>A | CA340396687 | CPT2 | c.1526C>A (p.Thr509Lys) c.*1512C>A (n.*1512C>A) c.*1173C>A (n.*1173C>A) c.341-2064C>A (n.341-2064C>A) n.3726C>A | |
| 1 | g.53211200C= | CA1167215457 | CPT2 | c.1526C= (p.Thr509=) c.*1512C= (n.*1512C=) c.*1173C= (n.*1173C=) c.341-2064C= (n.341-2064C=) n.3726C= | |
| 1 | g.53211200C>G | CA340396689 | CPT2 | c.1526C>G (p.Thr509Arg) c.*1512C>G (n.*1512C>G) c.*1173C>G (n.*1173C>G) c.341-2064C>G (n.341-2064C>G) n.3726C>G | |
| 1 | g.53211200C>T | CA340396690 | CPT2 | c.1526C>T (p.Thr509Ile) c.*1512C>T (n.*1512C>T) c.*1173C>T (n.*1173C>T) c.341-2064C>T (n.341-2064C>T) n.3726C>T | dbSNP |
| 1 | g.53211201A= | CA1167215458 | CPT2 | c.1527A= (p.Thr509=) c.*1513A= (n.*1513A=) c.*1174A= (n.*1174A=) c.341-2063A= (n.341-2063A=) n.3727A= | |
| 1 | g.53211201A>C | CA417639573 | CPT2 | c.1527A>C (p.Thr509=) c.*1513A>C (n.*1513A>C) c.*1174A>C (n.*1174A>C) c.341-2063A>C (n.341-2063A>C) n.3727A>C | |
| 1 | g.53211201A>G | CA417639571 | CPT2 | c.1527A>G (p.Thr509=) c.*1513A>G (n.*1513A>G) c.*1174A>G (n.*1174A>G) c.341-2063A>G (n.341-2063A>G) n.3727A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.53211201A>T | CA417639572 | CPT2 | c.1527A>T (p.Thr509=) c.*1513A>T (n.*1513A>T) c.*1174A>T (n.*1174A>T) c.341-2063A>T (n.341-2063A>T) n.3727A>T | |
| 1 | g.53211202_53211203dup | CA859229 | CPT2 | c.1528_1529dup (p.Cys512GlyfsTer21) c.1528_1529dup (p.Cys512GlyfsTer?) c.*1514_*1515dup (n.*1514_*1515dup) c.*1175_*1176dup (n.*1175_*1176dup) c.341-2062_341-2061dup (n.341-2062_341-2061dup) n.3728_3729dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.53211202_53211203del | CA2697552432 | CPT2 | c.1528_1529del (p.Lys510GlufsTer4) c.*1514_*1515del (n.*1514_*1515del) c.*1175_*1176del (n.*1175_*1176del) c.341-2062_341-2061del (n.341-2062_341-2061del) n.3728_3729del | ClinVar |
| 1 | g.53211202A= | CA1167215459 | CPT2 | c.1528A= (p.Lys510=) c.*1514A= (n.*1514A=) c.*1175A= (n.*1175A=) c.341-2062A= (n.341-2062A=) n.3728A= | |
| 1 | g.53211202A>C | CA340396692 | CPT2 | c.1528A>C (p.Lys510Gln) c.*1514A>C (n.*1514A>C) c.*1175A>C (n.*1175A>C) c.341-2062A>C (n.341-2062A>C) n.3728A>C | COSMIC |
| 1 | g.53211202A>G | CA340396694 | CPT2 | c.1528A>G (p.Lys510Glu) c.*1514A>G (n.*1514A>G) c.*1175A>G (n.*1175A>G) c.341-2062A>G (n.341-2062A>G) n.3728A>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.53211202A>T | CA340396696 | CPT2 | c.1528A>T (p.Lys510Ter) c.*1514A>T (n.*1514A>T) c.*1175A>T (n.*1175A>T) c.341-2062A>T (n.341-2062A>T) n.3728A>T | |
| 1 | g.53211203A>C | CA340396697 | CPT2 | c.1529A>C (p.Lys510Thr) c.*1515A>C (n.*1515A>C) c.*1176A>C (n.*1176A>C) c.341-2061A>C (n.341-2061A>C) n.3729A>C | |
| 1 | g.53211203A>G | CA340396698 | CPT2 | c.1529A>G (p.Lys510Arg) c.*1515A>G (n.*1515A>G) c.*1176A>G (n.*1176A>G) c.341-2061A>G (n.341-2061A>G) n.3729A>G | |
| 1 | g.53211203A>T | CA340396700 | CPT2 | c.1529A>T (p.Lys510Met) c.*1515A>T (n.*1515A>T) c.*1176A>T (n.*1176A>T) c.341-2061A>T (n.341-2061A>T) n.3729A>T | |
| 1 | g.53211204G>A | CA417639574 | CPT2 | c.1530G>A (p.Lys510=) c.*1516G>A (n.*1516G>A) c.*1177G>A (n.*1177G>A) c.341-2060G>A (n.341-2060G>A) n.3730G>A | |
| 1 | g.53211204G>C | CA340396703 | CPT2 | c.1530G>C (p.Lys510Asn) c.*1516G>C (n.*1516G>C) c.*1177G>C (n.*1177G>C) c.341-2060G>C (n.341-2060G>C) n.3730G>C | |
| 1 | g.53211204G>T | CA340396702 | CPT2 | c.1530G>T (p.Lys510Asn) c.*1516G>T (n.*1516G>T) c.*1177G>T (n.*1177G>T) c.341-2060G>T (n.341-2060G>T) n.3730G>T | |
| 1 | g.53211205A= | CA1167215460 | CPT2 | c.1531A= (p.Arg511=) c.*1517A= (n.*1517A=) c.*1178A= (n.*1178A=) c.341-2059A= (n.341-2059A=) n.3731A= | |
| 1 | g.53211205A>C | CA417639575 | CPT2 | c.1531A>C (p.Arg511=) c.*1517A>C (n.*1517A>C) c.*1178A>C (n.*1178A>C) c.341-2059A>C (n.341-2059A>C) n.3731A>C | ClinVar dbSNP |
| 1 | g.53211205A>G | CA340396704 | CPT2 | c.1531A>G (p.Arg511Gly) c.*1517A>G (n.*1517A>G) c.*1178A>G (n.*1178A>G) c.341-2059A>G (n.341-2059A>G) n.3731A>G | |
| 1 | g.53211205A>T | CA340396706 | CPT2 | c.1531A>T (p.Arg511Trp) c.*1517A>T (n.*1517A>T) c.*1178A>T (n.*1178A>T) c.341-2059A>T (n.341-2059A>T) n.3731A>T |