| 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.53211188C>A | CA340396646 | CPT2 | c.1514C>A (p.Ala505Asp) c.*1500C>A (n.*1500C>A) c.*1161C>A (n.*1161C>A) c.341-2076C>A (n.341-2076C>A) n.3714C>A | |
| 1 | g.53211188C>G | CA340396648 | CPT2 | c.1514C>G (p.Ala505Gly) c.*1500C>G (n.*1500C>G) c.*1161C>G (n.*1161C>G) c.341-2076C>G (n.341-2076C>G) n.3714C>G | |
| 1 | g.53211188C>T | CA340396650 | CPT2 | c.1514C>T (p.Ala505Val) c.*1500C>T (n.*1500C>T) c.*1161C>T (n.*1161C>T) c.341-2076C>T (n.341-2076C>T) n.3714C>T | |
| 1 | g.53211189C>A | CA417639562 | CPT2 | c.1515C>A (p.Ala505=) c.*1501C>A (n.*1501C>A) c.*1162C>A (n.*1162C>A) c.341-2075C>A (n.341-2075C>A) n.3715C>A | |
| 1 | g.53211189C>G | CA417639563 | CPT2 | c.1515C>G (p.Ala505=) c.*1501C>G (n.*1501C>G) c.*1162C>G (n.*1162C>G) c.341-2075C>G (n.341-2075C>G) n.3715C>G | |
| 1 | g.53211189C>T | CA417639564 | CPT2 | c.1515C>T (p.Ala505=) c.*1501C>T (n.*1501C>T) c.*1162C>T (n.*1162C>T) c.341-2075C>T (n.341-2075C>T) n.3715C>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.53211190T>A | CA340396651 | CPT2 | c.1516T>A (p.Ser506Thr) c.*1502T>A (n.*1502T>A) c.*1163T>A (n.*1163T>A) c.341-2074T>A (n.341-2074T>A) n.3716T>A | |
| 1 | g.53211190T>C | CA340396653 | CPT2 | c.1516T>C (p.Ser506Pro) c.*1502T>C (n.*1502T>C) c.*1163T>C (n.*1163T>C) c.341-2074T>C (n.341-2074T>C) n.3716T>C | |
| 1 | g.53211190T>G | CA340396655 | CPT2 | c.1516T>G (p.Ser506Ala) c.*1502T>G (n.*1502T>G) c.*1163T>G (n.*1163T>G) c.341-2074T>G (n.341-2074T>G) n.3716T>G | |
| 1 | g.53211191C>A | CA340396657 | CPT2 | c.1517C>A (p.Ser506Tyr) c.*1503C>A (n.*1503C>A) c.*1164C>A (n.*1164C>A) c.341-2073C>A (n.341-2073C>A) n.3717C>A | |
| 1 | g.53211191C>G | CA340396660 | CPT2 | c.1517C>G (p.Ser506Cys) c.*1503C>G (n.*1503C>G) c.*1164C>G (n.*1164C>G) c.341-2073C>G (n.341-2073C>G) n.3717C>G | |
| 1 | g.53211191C>T | CA340396658 | CPT2 | c.1517C>T (p.Ser506Phe) c.*1503C>T (n.*1503C>T) c.*1164C>T (n.*1164C>T) c.341-2073C>T (n.341-2073C>T) n.3717C>T | |
| 1 | g.53211192C>A | CA417639565 | CPT2 | c.1518C>A (p.Ser506=) c.*1504C>A (n.*1504C>A) c.*1165C>A (n.*1165C>A) c.341-2072C>A (n.341-2072C>A) n.3718C>A | |
| 1 | g.53211192C= | CA1141765370 | CPT2 | c.1518C= (p.Ser506=) c.*1504C= (n.*1504C=) c.*1165C= (n.*1165C=) c.341-2072C= (n.341-2072C=) n.3718C= | |
| 1 | g.53211192C>G | CA417639566 | CPT2 | c.1518C>G (p.Ser506=) c.*1504C>G (n.*1504C>G) c.*1165C>G (n.*1165C>G) c.341-2072C>G (n.341-2072C>G) n.3718C>G | |
| 1 | g.53211192C>T | CA859227 | CPT2 | c.1518C>T (p.Ser506=) c.*1504C>T (n.*1504C>T) c.*1165C>T (n.*1165C>T) c.341-2072C>T (n.341-2072C>T) n.3718C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.53211193G>A | CA859228 | CPT2 | c.1519G>A (p.Val507Ile) c.*1505G>A (n.*1505G>A) c.*1166G>A (n.*1166G>A) c.341-2071G>A (n.341-2071G>A) n.3719G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.53211193G>C | CA340396663 | CPT2 | c.1519G>C (p.Val507Leu) c.*1505G>C (n.*1505G>C) c.*1166G>C (n.*1166G>C) c.341-2071G>C (n.341-2071G>C) n.3719G>C | dbSNP |
| 1 | g.53211193G= | CA1141876544 | CPT2 | c.1519G= (p.Val507=) c.*1505G= (n.*1505G=) c.*1166G= (n.*1166G=) c.341-2071G= (n.341-2071G=) n.3719G= | |
| 1 | g.53211193G>T | CA340396664 | CPT2 | c.1519G>T (p.Val507Phe) c.*1505G>T (n.*1505G>T) c.*1166G>T (n.*1166G>T) c.341-2071G>T (n.341-2071G>T) n.3719G>T | |
| 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 |