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 |
|---|---|---|---|---|---|
| 11 | g.68775232_68775315del | CA223371670 | CPT1A | c.1575+1_1575+84del (n.1575+1_1575+84del) c.1671+1_1671+84del (n.1671+1_1671+84del) | dbSNP |
| 11 | g.68775306C>T | CA2499221270 | CPT1A | c.1575+10G>A (n.1575+10G>A) c.1671+10G>A (n.1671+10G>A) | ClinVar dbSNP |
| 11 | g.68775307C>G | CA2614734339 | CPT1A | c.1575+9G>C (n.1575+9G>C) c.1671+9G>C (n.1671+9G>C) | gnomAD v4 |
| 11 | g.68775307C>T | CA6152269 | CPT1A | c.1575+9G>A (n.1575+9G>A) c.1671+9G>A (n.1671+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.68775308G>A | CA6152270 | CPT1A | c.1575+8C>T (n.1575+8C>T) c.1671+8C>T (n.1671+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68775308G>T | CA2614734340 | CPT1A | c.1575+8C>A (n.1575+8C>A) c.1671+8C>A (n.1671+8C>A) | dbSNP gnomAD v4 |
| 11 | g.68775309G>T | CA2614734341 | CPT1A | c.1575+7C>A (n.1575+7C>A) c.1671+7C>A (n.1671+7C>A) | gnomAD v4 |
| 11 | g.68775310A>T | CA2614734342 | CPT1A | c.1575+6T>A (n.1575+6T>A) c.1671+6T>A (n.1671+6T>A) | gnomAD v4 |
| 11 | g.68775311C>T | CA2724277199 | CPT1A | c.1575+5G>A (n.1575+5G>A) c.1671+5G>A (n.1671+5G>A) | dbSNP |
| 11 | g.68775314A>C | CA381629685 | CPT1A | c.1575+2T>G (n.1575+2T>G) c.1671+2T>G (n.1671+2T>G) | gnomAD v4 |
| 11 | g.68775314A>G | CA381629686 | CPT1A | c.1575+2T>C (n.1575+2T>C) c.1671+2T>C (n.1671+2T>C) | |
| 11 | g.68775314A>T | CA381629687 | CPT1A | c.1575+2T>A (n.1575+2T>A) c.1671+2T>A (n.1671+2T>A) | |
| 11 | g.68775315C>A | CA381629688 | CPT1A | c.1575+1G>T (n.1575+1G>T) c.1671+1G>T (n.1671+1G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68775315C>G | CA381629689 | CPT1A | c.1575+1G>C (n.1575+1G>C) c.1671+1G>C (n.1671+1G>C) | |
| 11 | g.68775315C>T | CA381629690 | CPT1A | c.1575+1G>A (n.1575+1G>A) c.1671+1G>A (n.1671+1G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68775316T>A | CA381629691 | CPT1A | c.1575A>T (p.Glu525Asp) c.1671A>T (p.Glu557Asp) | dbSNP |
| 11 | g.68775316T>C | CA475189182 | CPT1A | c.1575A>G (p.Glu525=) c.1671A>G (p.Glu557=) | ClinVar |
| 11 | g.68775316T>G | CA381629692 | CPT1A | c.1575A>C (p.Glu525Asp) c.1671A>C (p.Glu557Asp) | |
| 11 | g.68775317T>A | CA381629693 | CPT1A | c.1574A>T (p.Glu525Val) c.1670A>T (p.Glu557Val) | |
| 11 | g.68775317T>C | CA381629694 | CPT1A | c.1574A>G (p.Glu525Gly) c.1670A>G (p.Glu557Gly) | |
| 11 | g.68775317T>G | CA381629695 | CPT1A | c.1574A>C (p.Glu525Ala) c.1670A>C (p.Glu557Ala) | |
| 11 | g.68775318C>A | CA381629696 | CPT1A | c.1573G>T (p.Glu525Ter) c.1669G>T (p.Glu557Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68775318C>G | CA381629697 | CPT1A | c.1573G>C (p.Glu525Gln) c.1669G>C (p.Glu557Gln) | |
| 11 | g.68775318C>T | CA381629698 | CPT1A | c.1573G>A (p.Glu525Lys) c.1669G>A (p.Glu557Lys) | gnomAD v4 COSMIC COSMIC |
| 11 | g.68775322dup | CA2573147545 | CPT1A | c.1573dup (p.Glu525GlyfsTer?) c.1669dup (p.Glu557GlyfsTer?) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68775322del | CA2497319596 | CPT1A | c.1573del (p.Glu525AsnfsTer6) c.1669del (p.Glu557AsnfsTer6) | dbSNP gnomAD v4 |
| 11 | g.68775319C>A | CA475189205 | CPT1A | c.1572G>T (p.Gly524=) c.1668G>T (p.Gly556=) | |
| 11 | g.68775319C>G | CA475189212 | CPT1A | c.1572G>C (p.Gly524=) c.1668G>C (p.Gly556=) | |
| 11 | g.68775319C>T | CA475189214 | CPT1A | c.1572G>A (p.Gly524=) c.1668G>A (p.Gly556=) | |
| 11 | g.68775320C>A | CA381629700 | CPT1A | c.1571G>T (p.Gly524Val) c.1667G>T (p.Gly556Val) | |
| 11 | g.68775320C>G | CA381629699 | CPT1A | c.1571G>C (p.Gly524Ala) c.1667G>C (p.Gly556Ala) | |
| 11 | g.68775320C>T | CA6152271 | CPT1A | c.1571G>A (p.Gly524Glu) c.1667G>A (p.Gly556Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68775321C>A | CA381629701 | CPT1A | c.1570G>T (p.Gly524Trp) c.1666G>T (p.Gly556Trp) | |
| 11 | g.68775321C>G | CA223371731 | CPT1A | c.1570G>C (p.Gly524Arg) c.1666G>C (p.Gly556Arg) | dbSNP |
| 11 | g.68775321C>T | CA6152272 | CPT1A | c.1570G>A (p.Gly524Arg) c.1666G>A (p.Gly556Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68775322C>A | CA475189228 | CPT1A | c.1569G>T (p.Pro523=) c.1665G>T (p.Pro555=) | |
| 11 | g.68775322C>G | CA223371735 | CPT1A | c.1569G>C (p.Pro523=) c.1665G>C (p.Pro555=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68775322C>T | CA6152273 | CPT1A | c.1569G>A (p.Pro523=) c.1665G>A (p.Pro555=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68775323G>A | CA6152274 | CPT1A | c.1568C>T (p.Pro523Leu) c.1664C>T (p.Pro555Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.68775323G>C | CA6152275 | CPT1A | c.1568C>G (p.Pro523Arg) c.1664C>G (p.Pro555Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68775323G>T | CA381629702 | CPT1A | c.1568C>A (p.Pro523Gln) c.1664C>A (p.Pro555Gln) | |
| 11 | g.68775324G>A | CA381629703 | CPT1A | c.1567C>T (p.Pro523Ser) c.1663C>T (p.Pro555Ser) | COSMIC COSMIC |
| 11 | g.68775324G>C | CA381629704 | CPT1A | c.1567C>G (p.Pro523Ala) c.1663C>G (p.Pro555Ala) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68775324G>T | CA381629705 | CPT1A | c.1567C>A (p.Pro523Thr) c.1663C>A (p.Pro555Thr) | dbSNP |
| 11 | g.68775325G>A | CA6152276 | CPT1A | c.1566C>T (p.Ile522=) c.1662C>T (p.Ile554=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68775325G>C | CA381629706 | CPT1A | c.1566C>G (p.Ile522Met) c.1662C>G (p.Ile554Met) | |
| 11 | g.68775325G>T | CA475189248 | CPT1A | c.1566C>A (p.Ile522=) c.1662C>A (p.Ile554=) | gnomAD v4 |
| 11 | g.68775326A>C | CA381629707 | CPT1A | c.1565T>G (p.Ile522Ser) c.1661T>G (p.Ile554Ser) | |
| 11 | g.68775326A>G | CA381629708 | CPT1A | c.1565T>C (p.Ile522Thr) c.1661T>C (p.Ile554Thr) | |
| 11 | g.68775326A>T | CA381629709 | CPT1A | c.1565T>A (p.Ile522Asn) c.1661T>A (p.Ile554Asn) | |
| 11 | g.68775327T>A | CA381629710 | CPT1A | c.1564A>T (p.Ile522Phe) c.1660A>T (p.Ile554Phe) | |
| 11 | g.68775327T>C | CA381629711 | CPT1A | c.1564A>G (p.Ile522Val) c.1660A>G (p.Ile554Val) | |
| 11 | g.68775327T>G | CA381629712 | CPT1A | c.1564A>C (p.Ile522Leu) c.1660A>C (p.Ile554Leu) | |
| 11 | g.68775328G>A | CA6152277 | CPT1A | c.1563C>T (p.Asp521=) c.1659C>T (p.Asp553=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68775328G>C | CA381629713 | CPT1A | c.1563C>G (p.Asp521Glu) c.1659C>G (p.Asp553Glu) | |
| 11 | g.68775328G>T | CA6152278 | CPT1A | c.1563C>A (p.Asp521Glu) c.1659C>A (p.Asp553Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68775329T>A | CA381629715 | CPT1A | c.1562A>T (p.Asp521Val) c.1658A>T (p.Asp553Val) | |
| 11 | g.68775329T>C | CA381629714 | CPT1A | c.1562A>G (p.Asp521Gly) c.1658A>G (p.Asp553Gly) | dbSNP |
| 11 | g.68775329T>G | CA381629716 | CPT1A | c.1562A>C (p.Asp521Ala) c.1658A>C (p.Asp553Ala) | |
| 11 | g.68775330C>A | CA381629717 | CPT1A | c.1561G>T (p.Asp521Tyr) c.1657G>T (p.Asp553Tyr) | |
| 11 | g.68775330C>G | CA381629719 | CPT1A | c.1561G>C (p.Asp521His) c.1657G>C (p.Asp553His) | |
| 11 | g.68775330C>T | CA381629718 | CPT1A | c.1561G>A (p.Asp521Asn) c.1657G>A (p.Asp553Asn) | gnomAD v4 |
| 11 | g.68775332del | CA2499214054 | CPT1A | c.1561del (p.Asp521ThrfsTer10) c.1657del (p.Asp553ThrfsTer10) | |
| 11 | g.68775331C>A | CA381629720 | CPT1A | c.1560G>T (p.Trp520Cys) c.1656G>T (p.Trp552Cys) | |
| 11 | g.68775331C>G | CA381629721 | CPT1A | c.1560G>C (p.Trp520Cys) c.1656G>C (p.Trp552Cys) | |
| 11 | g.68775331C>T | CA381629722 | CPT1A | c.1560G>A (p.Trp520Ter) c.1656G>A (p.Trp552Ter) | gnomAD v4 |
| 11 | g.68775332C>A | CA381629723 | CPT1A | c.1559G>T (p.Trp520Leu) c.1655G>T (p.Trp552Leu) | |
| 11 | g.68775332C>G | CA381629724 | CPT1A | c.1559G>C (p.Trp520Ser) c.1655G>C (p.Trp552Ser) | |
| 11 | g.68775332C>T | CA381629725 | CPT1A | c.1559G>A (p.Trp520Ter) c.1655G>A (p.Trp552Ter) | gnomAD v4 |
| 11 | g.68775333A>C | CA381629726 | CPT1A | c.1558T>G (p.Trp520Gly) c.1654T>G (p.Trp552Gly) | |
| 11 | g.68775333A>G | CA381629727 | CPT1A | c.1558T>C (p.Trp520Arg) c.1654T>C (p.Trp552Arg) | |
| 11 | g.68775333A>T | CA381629728 | CPT1A | c.1558T>A (p.Trp520Arg) c.1654T>A (p.Trp552Arg) | |
| 11 | g.68775334C>A | CA381629729 | CPT1A | c.1557G>T (p.Gln519His) c.1653G>T (p.Gln551His) | |
| 11 | g.68775334C>G | CA381629730 | CPT1A | c.1557G>C (p.Gln519His) c.1653G>C (p.Gln551His) | |
| 11 | g.68775334C>T | CA6152279 | CPT1A | c.1557G>A (p.Gln519=) c.1653G>A (p.Gln551=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68775335T>A | CA381629733 | CPT1A | c.1556A>T (p.Gln519Leu) c.1652A>T (p.Gln551Leu) | |
| 11 | g.68775335T>C | CA381629731 | CPT1A | c.1556A>G (p.Gln519Arg) c.1652A>G (p.Gln551Arg) | |
| 11 | g.68775335T>G | CA381629732 | CPT1A | c.1556A>C (p.Gln519Pro) c.1652A>C (p.Gln551Pro) | gnomAD v4 |
| 11 | g.68775336G>A | CA381629734 | CPT1A | c.1555C>T (p.Gln519Ter) c.1651C>T (p.Gln551Ter) | |
| 11 | g.68775336G>C | CA381629735 | CPT1A | c.1555C>G (p.Gln519Glu) c.1651C>G (p.Gln551Glu) | |
| 11 | g.68775336G>T | CA381629736 | CPT1A | c.1555C>A (p.Gln519Lys) c.1651C>A (p.Gln551Lys) | |
| 11 | g.68775337C>A | CA475189366 | CPT1A | c.1554G>T (p.Leu518=) c.1650G>T (p.Leu550=) | ClinVar |
| 11 | g.68775337C>G | CA475189368 | CPT1A | c.1554G>C (p.Leu518=) c.1650G>C (p.Leu550=) | |
| 11 | g.68775337C>T | CA475189369 | CPT1A | c.1554G>A (p.Leu518=) c.1650G>A (p.Leu550=) | gnomAD v4 |
| 11 | g.68775338A>C | CA381629737 | CPT1A | c.1553T>G (p.Leu518Arg) c.1649T>G (p.Leu550Arg) | |
| 11 | g.68775338A>G | CA381629738 | CPT1A | c.1553T>C (p.Leu518Pro) c.1649T>C (p.Leu550Pro) | gnomAD v4 |
| 11 | g.68775338A>T | CA381629739 | CPT1A | c.1553T>A (p.Leu518Gln) c.1649T>A (p.Leu550Gln) | |
| 11 | g.68775339G>A | CA475189382 | CPT1A | c.1552C>T (p.Leu518=) c.1648C>T (p.Leu550=) | |
| 11 | g.68775339G>C | CA381629740 | CPT1A | c.1552C>G (p.Leu518Val) c.1648C>G (p.Leu550Val) | gnomAD v4 |
| 11 | g.68775339G>T | CA381629741 | CPT1A | c.1552C>A (p.Leu518Met) c.1648C>A (p.Leu550Met) | |
| 11 | g.68775340C>A | CA381629742 | CPT1A | c.1551G>T (p.Arg517Ser) c.1647G>T (p.Arg549Ser) | |
| 11 | g.68775340C>G | CA381629743 | CPT1A | c.1551G>C (p.Arg517Ser) c.1647G>C (p.Arg549Ser) | |
| 11 | g.68775340C>T | CA475189391 | CPT1A | c.1551G>A (p.Arg517=) c.1647G>A (p.Arg549=) | |
| 11 | g.68775341C>A | CA381629746 | CPT1A | c.1550G>T (p.Arg517Met) c.1646G>T (p.Arg549Met) | |
| 11 | g.68775341C>G | CA381629745 | CPT1A | c.1550G>C (p.Arg517Thr) c.1646G>C (p.Arg549Thr) | |
| 11 | g.68775341C>T | CA381629744 | CPT1A | c.1550G>A (p.Arg517Lys) c.1646G>A (p.Arg549Lys) | gnomAD v4 |
| 11 | g.68775342T>A | CA381629747 | CPT1A | c.1549A>T (p.Arg517Trp) c.1645A>T (p.Arg549Trp) | |
| 11 | g.68775342T>C | CA381629748 | CPT1A | c.1549A>G (p.Arg517Gly) c.1645A>G (p.Arg549Gly) | |
| 11 | g.68775342T>G | CA475189417 | CPT1A | c.1549A>C (p.Arg517=) c.1645A>C (p.Arg549=) | |
| 11 | g.68775343G>A | CA223371751 | CPT1A | c.1548C>T (p.Thr516=) c.1644C>T (p.Thr548=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68775343G>C | CA475189423 | CPT1A | c.1548C>G (p.Thr516=) c.1644C>G (p.Thr548=) | |
| 11 | g.68775343G>T | CA475189425 | CPT1A | c.1548C>A (p.Thr516=) c.1644C>A (p.Thr548=) | |
| 11 | g.68775344G>A | CA381629749 | CPT1A | c.1547C>T (p.Thr516Ile) c.1643C>T (p.Thr548Ile) | dbSNP |
| 11 | g.68775344G>C | CA381629750 | CPT1A | c.1547C>G (p.Thr516Ser) c.1643C>G (p.Thr548Ser) | gnomAD v4 |
| 11 | g.68775344G>T | CA381629751 | CPT1A | c.1547C>A (p.Thr516Asn) c.1643C>A (p.Thr548Asn) | |
| 11 | g.68775345T>A | CA381629752 | CPT1A | c.1546A>T (p.Thr516Ser) c.1642A>T (p.Thr548Ser) | |
| 11 | g.68775345T>C | CA381629753 | CPT1A | c.1546A>G (p.Thr516Ala) c.1642A>G (p.Thr548Ala) | |
| 11 | g.68775345T>G | CA381629754 | CPT1A | c.1546A>C (p.Thr516Pro) c.1642A>C (p.Thr548Pro) | |
| 11 | g.68775346G>A | CA475189443 | CPT1A | c.1545C>T (p.Pro515=) c.1641C>T (p.Pro547=) | |
| 11 | g.68775346G>C | CA475189451 | CPT1A | c.1545C>G (p.Pro515=) c.1641C>G (p.Pro547=) | |
| 11 | g.68775346G>T | CA475189454 | CPT1A | c.1545C>A (p.Pro515=) c.1641C>A (p.Pro547=) | |
| 11 | g.68775347G>A | CA381629755 | CPT1A | c.1544C>T (p.Pro515Leu) c.1640C>T (p.Pro547Leu) | |
| 11 | g.68775347G>C | CA381629756 | CPT1A | c.1544C>G (p.Pro515Arg) c.1640C>G (p.Pro547Arg) | |
| 11 | g.68775347G>T | CA381629757 | CPT1A | c.1544C>A (p.Pro515His) c.1640C>A (p.Pro547His) | |
| 11 | g.68775348G>A | CA381629760 | CPT1A | c.1543C>T (p.Pro515Ser) c.1639C>T (p.Pro547Ser) | |
| 11 | g.68775348G>C | CA381629758 | CPT1A | c.1543C>G (p.Pro515Ala) c.1639C>G (p.Pro547Ala) | |
| 11 | g.68775348G>T | CA381629759 | CPT1A | c.1543C>A (p.Pro515Thr) c.1639C>A (p.Pro547Thr) | |
| 11 | g.68775349G>A | CA475189477 | CPT1A | c.1542C>T (p.Tyr514=) c.1638C>T (p.Tyr546=) | ClinVar |
| 11 | g.68775349G>C | CA381629761 | CPT1A | c.1542C>G (p.Tyr514Ter) c.1638C>G (p.Tyr546Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68775349G>T | CA381629762 | CPT1A | c.1542C>A (p.Tyr514Ter) c.1638C>A (p.Tyr546Ter) | |
| 11 | g.68775350del | CA599988240 | CPT1A | c.1541del (p.Tyr514SerfsTer17) c.1637del (p.Tyr546SerfsTer17) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68775350T>A | CA381629763 | CPT1A | c.1541A>T (p.Tyr514Phe) c.1637A>T (p.Tyr546Phe) | |
| 11 | g.68775350T>C | CA381629764 | CPT1A | c.1541A>G (p.Tyr514Cys) c.1637A>G (p.Tyr546Cys) | COSMIC COSMIC |
| 11 | g.68775350T>G | CA381629765 | CPT1A | c.1541A>C (p.Tyr514Ser) c.1637A>C (p.Tyr546Ser) | |
| 11 | g.68775351A>C | CA381629766 | CPT1A | c.1540T>G (p.Tyr514Asp) c.1636T>G (p.Tyr546Asp) | dbSNP |
| 11 | g.68775351A>G | CA381629767 | CPT1A | c.1540T>C (p.Tyr514His) c.1636T>C (p.Tyr546His) | |
| 11 | g.68775351A>T | CA381629768 | CPT1A | c.1540T>A (p.Tyr514Asn) c.1636T>A (p.Tyr546Asn) | |
| 11 | g.68775352C>A | CA475189500 | CPT1A | c.1539G>T (p.Pro513=) c.1635G>T (p.Pro545=) | |
| 11 | g.68775352C>G | CA475189498 | CPT1A | c.1539G>C (p.Pro513=) c.1635G>C (p.Pro545=) | |
| 11 | g.68775352C>T | CA6152280 | CPT1A | c.1539G>A (p.Pro513=) c.1635G>A (p.Pro545=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68775353G>A | CA6152281 | CPT1A | c.1538C>T (p.Pro513Leu) c.1634C>T (p.Pro545Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68775353G>C | CA381629769 | CPT1A | c.1538C>G (p.Pro513Arg) c.1634C>G (p.Pro545Arg) | |
| 11 | g.68775353G>T | CA381629770 | CPT1A | c.1538C>A (p.Pro513Gln) c.1634C>A (p.Pro545Gln) | |
| 11 | g.68775353_68775354delinsAA | CA645575728 | CPT1A | c.1537_1538delinsTT (p.Pro513Leu) c.1633_1634delinsTT (p.Pro545Leu) | COSMIC COSMIC |
| 11 | g.68775354G>A | CA381629772 | CPT1A | c.1537C>T (p.Pro513Ser) c.1633C>T (p.Pro545Ser) | |
| 11 | g.68775354G>C | CA381629773 | CPT1A | c.1537C>G (p.Pro513Ala) c.1633C>G (p.Pro545Ala) | |
| 11 | g.68775354G>T | CA381629771 | CPT1A | c.1537C>A (p.Pro513Thr) c.1633C>A (p.Pro545Thr) | |
| 11 | g.68775355A>C | CA6152282 | CPT1A | c.1536T>G (p.Ile512Met) c.1632T>G (p.Ile544Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68775355A>G | CA475189523 | CPT1A | c.1536T>C (p.Ile512=) c.1632T>C (p.Ile544=) | |
| 11 | g.68775355A>T | CA475189529 | CPT1A | c.1536T>A (p.Ile512=) c.1632T>A (p.Ile544=) | |
| 11 | g.68775356A>C | CA381629774 | CPT1A | c.1535T>G (p.Ile512Ser) c.1631T>G (p.Ile544Ser) | |
| 11 | g.68775356A>G | CA381629775 | CPT1A | c.1535T>C (p.Ile512Thr) c.1631T>C (p.Ile544Thr) | gnomAD v4 |
| 11 | g.68775356A>T | CA381629776 | CPT1A | c.1535T>A (p.Ile512Asn) c.1631T>A (p.Ile544Asn) | |
| 11 | g.68775357T>A | CA381629777 | CPT1A | c.1534A>T (p.Ile512Phe) c.1630A>T (p.Ile544Phe) | |
| 11 | g.68775357T>C | CA6152283 | CPT1A | c.1534A>G (p.Ile512Val) c.1630A>G (p.Ile544Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68775357T>G | CA381629778 | CPT1A | c.1534A>C (p.Ile512Leu) c.1630A>C (p.Ile544Leu) | |
| 11 | g.68775358G>A | CA475189551 | CPT1A | c.1533C>T (p.Asn511=) c.1629C>T (p.Asn543=) | |
| 11 | g.68775358G>C | CA381629779 | CPT1A | c.1533C>G (p.Asn511Lys) c.1629C>G (p.Asn543Lys) | |
| 11 | g.68775358G>T | CA381629780 | CPT1A | c.1533C>A (p.Asn511Lys) c.1629C>A (p.Asn543Lys) | |
| 11 | g.68775359T>A | CA381629781 | CPT1A | c.1532A>T (p.Asn511Ile) c.1628A>T (p.Asn543Ile) | |
| 11 | g.68775359T>C | CA381629782 | CPT1A | c.1532A>G (p.Asn511Ser) c.1628A>G (p.Asn543Ser) | gnomAD v4 |
| 11 | g.68775359T>G | CA381629783 | CPT1A | c.1532A>C (p.Asn511Thr) c.1628A>C (p.Asn543Thr) | |
| 11 | g.68775360T>A | CA381629784 | CPT1A | c.1531A>T (p.Asn511Tyr) c.1627A>T (p.Asn543Tyr) | |
| 11 | g.68775360T>C | CA381629785 | CPT1A | c.1531A>G (p.Asn511Asp) c.1627A>G (p.Asn543Asp) | |
| 11 | g.68775360T>G | CA381629786 | CPT1A | c.1531A>C (p.Asn511His) c.1627A>C (p.Asn543His) | |
| 11 | g.68775361C>A | CA475189574 | CPT1A | c.1530G>T (p.Pro510=) c.1626G>T (p.Pro542=) | dbSNP gnomAD v4 |
| 11 | g.68775361C>G | CA475189577 | CPT1A | c.1530G>C (p.Pro510=) c.1626G>C (p.Pro542=) | |
| 11 | g.68775361C>T | CA6152284 | CPT1A | c.1530G>A (p.Pro510=) c.1626G>A (p.Pro542=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68775362G>A | CA6152285 | CPT1A | c.1529C>T (p.Pro510Leu) c.1625C>T (p.Pro542Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68775362G>C | CA381629787 | CPT1A | c.1529C>G (p.Pro510Arg) c.1625C>G (p.Pro542Arg) | |
| 11 | g.68775362G>T | CA381629788 | CPT1A | c.1529C>A (p.Pro510Gln) c.1625C>A (p.Pro542Gln) | |
| 11 | g.68775362_68775371dup | CA2614734356 | CPT1A | c.1520_1529dup (p.Asn511HisfsTer?) c.1616_1625dup (p.Asn543HisfsTer?) | ClinVar gnomAD v4 |
| 11 | g.68775363G>A | CA381629789 | CPT1A | c.1528C>T (p.Pro510Ser) c.1624C>T (p.Pro542Ser) | ClinVar dbSNP |
| 11 | g.68775363G>C | CA381629790 | CPT1A | c.1528C>G (p.Pro510Ala) c.1624C>G (p.Pro542Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68775363G>T | CA381629791 | CPT1A | c.1528C>A (p.Pro510Thr) c.1624C>A (p.Pro542Thr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68775364A>C | CA381629792 | CPT1A | c.1527T>G (p.Asn509Lys) c.1623T>G (p.Asn541Lys) | dbSNP |
| 11 | g.68775364A>G | CA475189600 | CPT1A | c.1527T>C (p.Asn509=) c.1623T>C (p.Asn541=) | |
| 11 | g.68775364A>T | CA381629793 | CPT1A | c.1527T>A (p.Asn509Lys) c.1623T>A (p.Asn541Lys) | |
| 11 | g.68775365T>A | CA381629794 | CPT1A | c.1526A>T (p.Asn509Ile) c.1622A>T (p.Asn541Ile) | |
| 11 | g.68775365T>C | CA6152286 | CPT1A | c.1526A>G (p.Asn509Ser) c.1622A>G (p.Asn541Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68775365T>G | CA381629795 | CPT1A | c.1526A>C (p.Asn509Thr) c.1622A>C (p.Asn541Thr) | |
| 11 | g.68775366T>A | CA381629796 | CPT1A | c.1525A>T (p.Asn509Tyr) c.1621A>T (p.Asn541Tyr) | |
| 11 | g.68775366T>C | CA381629797 | CPT1A | c.1525A>G (p.Asn509Asp) c.1621A>G (p.Asn541Asp) | |
| 11 | g.68775366T>G | CA381629798 | CPT1A | c.1525A>C (p.Asn509His) c.1621A>C (p.Asn541His) | |
| 11 | g.68775367G>A | CA475189624 | CPT1A | c.1524C>T (p.Ile508=) c.1620C>T (p.Ile540=) | |
| 11 | g.68775367G>C | CA381629799 | CPT1A | c.1524C>G (p.Ile508Met) c.1620C>G (p.Ile540Met) | gnomAD v4 |
| 11 | g.68775367G>T | CA475189626 | CPT1A | c.1524C>A (p.Ile508=) c.1620C>A (p.Ile540=) | |
| 11 | g.68775368A>C | CA381629801 | CPT1A | c.1523T>G (p.Ile508Ser) c.1619T>G (p.Ile540Ser) | |
| 11 | g.68775368A>G | CA381629800 | CPT1A | c.1523T>C (p.Ile508Thr) c.1619T>C (p.Ile540Thr) | dbSNP |
| 11 | g.68775368A>T | CA381629802 | CPT1A | c.1523T>A (p.Ile508Asn) c.1619T>A (p.Ile540Asn) | |
| 11 | g.68775369T>A | CA381629803 | CPT1A | c.1522A>T (p.Ile508Phe) c.1618A>T (p.Ile540Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68775369T>C | CA381629804 | CPT1A | c.1522A>G (p.Ile508Val) c.1618A>G (p.Ile540Val) | |
| 11 | g.68775369T>G | CA381629805 | CPT1A | c.1522A>C (p.Ile508Leu) c.1618A>C (p.Ile540Leu) | |
| 11 | g.68775370G>A | CA475189657 | CPT1A | c.1521C>T (p.Asp507=) c.1617C>T (p.Asp539=) | |
| 11 | g.68775370G>C | CA381629806 | CPT1A | c.1521C>G (p.Asp507Glu) c.1617C>G (p.Asp539Glu) | |
| 11 | g.68775370G>T | CA381629808 | CPT1A | c.1521C>A (p.Asp507Glu) c.1617C>A (p.Asp539Glu) | |
| 11 | g.68775371T>A | CA381629810 | CPT1A | c.1520A>T (p.Asp507Val) c.1616A>T (p.Asp539Val) | |
| 11 | g.68775371T>C | CA381629812 | CPT1A | c.1520A>G (p.Asp507Gly) c.1616A>G (p.Asp539Gly) | |
| 11 | g.68775371T>G | CA381629813 | CPT1A | c.1520A>C (p.Asp507Ala) c.1616A>C (p.Asp539Ala) | |
| 11 | g.68775372C>A | CA381629814 | CPT1A | c.1519G>T (p.Asp507Tyr) c.1615G>T (p.Asp539Tyr) | |
| 11 | g.68775372C>G | CA381629815 | CPT1A | c.1519G>C (p.Asp507His) c.1615G>C (p.Asp539His) | |
| 11 | g.68775372C>T | CA381629816 | CPT1A | c.1519G>A (p.Asp507Asn) c.1615G>A (p.Asp539Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68775373G>A | CA6152287 | CPT1A | c.1518C>T (p.Gly506=) c.1614C>T (p.Gly538=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68775373G>C | CA475189679 | CPT1A | c.1518C>G (p.Gly506=) c.1614C>G (p.Gly538=) | |
| 11 | g.68775373G>T | CA475189681 | CPT1A | c.1518C>A (p.Gly506=) c.1614C>A (p.Gly538=) | |
| 11 | g.68775374C>A | CA381629823 | CPT1A | c.1517G>T (p.Gly506Val) c.1613G>T (p.Gly538Val) | |
| 11 | g.68775374C>G | CA381629821 | CPT1A | c.1517G>C (p.Gly506Ala) c.1613G>C (p.Gly538Ala) | |
| 11 | g.68775374C>T | CA381629819 | CPT1A | c.1517G>A (p.Gly506Asp) c.1613G>A (p.Gly538Asp) | COSMIC |
| 11 | g.68775375C>A | CA381629826 | CPT1A | c.1516G>T (p.Gly506Cys) c.1612G>T (p.Gly538Cys) | |
| 11 | g.68775375C>G | CA381629831 | CPT1A | c.1516G>C (p.Gly506Arg) c.1612G>C (p.Gly538Arg) | |
| 11 | g.68775375C>T | CA381629832 | CPT1A | c.1516G>A (p.Gly506Ser) c.1612G>A (p.Gly538Ser) | dbSNP |
| 11 | g.68775376T>A | CA381629833 | CPT1A | c.1515A>T (p.Lys505Asn) c.1611A>T (p.Lys537Asn) | |
| 11 | g.68775376T>C | CA475189706 | CPT1A | c.1515A>G (p.Lys505=) c.1611A>G (p.Lys537=) | gnomAD v4 |
| 11 | g.68775376T>G | CA381629834 | CPT1A | c.1515A>C (p.Lys505Asn) c.1611A>C (p.Lys537Asn) | |
| 11 | g.68775377T>A | CA381629835 | CPT1A | c.1514A>T (p.Lys505Ile) c.1610A>T (p.Lys537Ile) | |
| 11 | g.68775377T>C | CA381629837 | CPT1A | c.1514A>G (p.Lys505Arg) c.1610A>G (p.Lys537Arg) | |
| 11 | g.68775377T>G | CA381629839 | CPT1A | c.1514A>C (p.Lys505Thr) c.1610A>C (p.Lys537Thr) | |
| 11 | g.68775378T>A | CA381629841 | CPT1A | c.1513A>T (p.Lys505Ter) c.1609A>T (p.Lys537Ter) | |
| 11 | g.68775378T>C | CA381629843 | CPT1A | c.1513A>G (p.Lys505Glu) c.1609A>G (p.Lys537Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68775378T>G | CA381629845 | CPT1A | c.1513A>C (p.Lys505Gln) c.1609A>C (p.Lys537Gln) | |
| 11 | g.68775379G>A | CA475189725 | CPT1A | c.1512C>T (p.Cys504=) c.1608C>T (p.Cys536=) | dbSNP |
| 11 | g.68775379G>C | CA381629847 | CPT1A | c.1512C>G (p.Cys504Trp) c.1608C>G (p.Cys536Trp) | |
| 11 | g.68775379G>T | CA381629849 | CPT1A | c.1512C>A (p.Cys504Ter) c.1608C>A (p.Cys536Ter) | |
| 11 | g.68775380C>A | CA381629853 | CPT1A | c.1511G>T (p.Cys504Phe) c.1607G>T (p.Cys536Phe) | |
| 11 | g.68775380C>G | CA381629854 | CPT1A | c.1511G>C (p.Cys504Ser) c.1607G>C (p.Cys536Ser) | |
| 11 | g.68775380C>T | CA381629851 | CPT1A | c.1511G>A (p.Cys504Tyr) c.1607G>A (p.Cys536Tyr) | |
| 11 | g.68775381A>C | CA381629857 | CPT1A | c.1510T>G (p.Cys504Gly) c.1606T>G (p.Cys536Gly) | |
| 11 | g.68775381A>G | CA381629864 | CPT1A | c.1510T>C (p.Cys504Arg) c.1606T>C (p.Cys536Arg) | dbSNP |
| 11 | g.68775381A>T | CA381629863 | CPT1A | c.1510T>A (p.Cys504Ser) c.1606T>A (p.Cys536Ser) | |
| 11 | g.68775382G>A | CA475189758 | CPT1A | c.1509C>T (p.His503=) c.1605C>T (p.His535=) | ClinVar dbSNP |
| 11 | g.68775382G>C | CA381629866 | CPT1A | c.1509C>G (p.His503Gln) c.1605C>G (p.His535Gln) | |
| 11 | g.68775382G>T | CA381629868 | CPT1A | c.1509C>A (p.His503Gln) c.1605C>A (p.His535Gln) | |
| 11 | g.68775383T>A | CA381629870 | CPT1A | c.1508A>T (p.His503Leu) c.1604A>T (p.His535Leu) | |
| 11 | g.68775383T>C | CA381629874 | CPT1A | c.1508A>G (p.His503Arg) c.1604A>G (p.His535Arg) | |
| 11 | g.68775383T>G | CA381629872 | CPT1A | c.1508A>C (p.His503Pro) c.1604A>C (p.His535Pro) | |
| 11 | g.68775384G>A | CA381629876 | CPT1A | c.1507C>T (p.His503Tyr) c.1603C>T (p.His535Tyr) | |
| 11 | g.68775384G>C | CA381629879 | CPT1A | c.1507C>G (p.His503Asp) c.1603C>G (p.His535Asp) | |
| 11 | g.68775384G>T | CA381629881 | CPT1A | c.1507C>A (p.His503Asn) c.1603C>A (p.His535Asn) | |
| 11 | g.68775385C>A | CA475189784 | CPT1A | c.1506G>T (p.Gly502=) c.1602G>T (p.Gly534=) | dbSNP |
| 11 | g.68775385C>G | CA475189787 | CPT1A | c.1506G>C (p.Gly502=) c.1602G>C (p.Gly534=) | |
| 11 | g.68775385C>T | CA475189791 | CPT1A | c.1506G>A (p.Gly502=) c.1602G>A (p.Gly534=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68775386C>A | CA381629884 | CPT1A | c.1505G>T (p.Gly502Val) c.1601G>T (p.Gly534Val) | |
| 11 | g.68775386C>G | CA381629886 | CPT1A | c.1505G>C (p.Gly502Ala) c.1601G>C (p.Gly534Ala) | |
| 11 | g.68775386C>T | CA381629888 | CPT1A | c.1505G>A (p.Gly502Glu) c.1601G>A (p.Gly534Glu) | |
| 11 | g.68775387C>A | CA381629891 | CPT1A | c.1504G>T (p.Gly502Trp) c.1600G>T (p.Gly534Trp) | |
| 11 | g.68775387C>G | CA381629892 | CPT1A | c.1504G>C (p.Gly502Arg) c.1600G>C (p.Gly534Arg) | |
| 11 | g.68775387C>T | CA381629893 | CPT1A | c.1504G>A (p.Gly502Arg) c.1600G>A (p.Gly534Arg) | dbSNP |
| 11 | g.68775388A>C | CA381629894 | CPT1A | c.1503T>G (p.Asp501Glu) c.1599T>G (p.Asp533Glu) | |
| 11 | g.68775388A>G | CA475189828 | CPT1A | c.1503T>C (p.Asp501=) c.1599T>C (p.Asp533=) | gnomAD v4 |
| 11 | g.68775388A>T | CA381629896 | CPT1A | c.1503T>A (p.Asp501Glu) c.1599T>A (p.Asp533Glu) | |
| 11 | g.68775389T>A | CA381629905 | CPT1A | c.1502A>T (p.Asp501Val) c.1598A>T (p.Asp533Val) | |
| 11 | g.68775389T>C | CA381629902 | CPT1A | c.1502A>G (p.Asp501Gly) c.1598A>G (p.Asp533Gly) | |
| 11 | g.68775389T>G | CA381629899 | CPT1A | c.1502A>C (p.Asp501Ala) c.1598A>C (p.Asp533Ala) | |
| 11 | g.68775390C>A | CA381629907 | CPT1A | c.1501G>T (p.Asp501Tyr) c.1597G>T (p.Asp533Tyr) | |
| 11 | g.68775390C>G | CA381629909 | CPT1A | c.1501G>C (p.Asp501His) c.1597G>C (p.Asp533His) | dbSNP |
| 11 | g.68775390C>T | CA381629910 | CPT1A | c.1501G>A (p.Asp501Asn) c.1597G>A (p.Asp533Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68775391C>A | CA381629912 | CPT1A | c.1500G>T (p.Glu500Asp) c.1596G>T (p.Glu532Asp) | |
| 11 | g.68775391C>G | CA381629914 | CPT1A | c.1500G>C (p.Glu500Asp) c.1596G>C (p.Glu532Asp) | |
| 11 | g.68775391C>T | CA6152288 | CPT1A | c.1500G>A (p.Glu500=) c.1596G>A (p.Glu532=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68775392T>A | CA381629919 | CPT1A | c.1499A>T (p.Glu500Val) c.1595A>T (p.Glu532Val) | |
| 11 | g.68775392T>C | CA381629920 | CPT1A | c.1499A>G (p.Glu500Gly) c.1595A>G (p.Glu532Gly) | |
| 11 | g.68775392T>G | CA381629922 | CPT1A | c.1499A>C (p.Glu500Ala) c.1595A>C (p.Glu532Ala) | |
| 11 | g.68775393C>A | CA381629933 | CPT1A | c.1498G>T (p.Glu500Ter) c.1594G>T (p.Glu532Ter) | |
| 11 | g.68775393C>G | CA381629934 | CPT1A | c.1498G>C (p.Glu500Gln) c.1594G>C (p.Glu532Gln) | |
| 11 | g.68775393C>T | CA381629935 | CPT1A | c.1498G>A (p.Glu500Lys) c.1594G>A (p.Glu532Lys) | gnomAD v4 |
| 11 | g.68775394dup | CA599988250 | CPT1A | c.1498dup (p.Glu500GlyfsTer?) c.1594dup (p.Glu532GlyfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68775394C>A | CA475189890 | CPT1A | c.1497G>T (p.Ala499=) c.1593G>T (p.Ala531=) | |
| 11 | g.68775394C>G | CA475189886 | CPT1A | c.1497G>C (p.Ala499=) c.1593G>C (p.Ala531=) | |
| 11 | g.68775394C>T | CA6152289 | CPT1A | c.1497G>A (p.Ala499=) c.1593G>A (p.Ala531=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68775395G>A | CA6152290 | CPT1A | c.1496C>T (p.Ala499Val) c.1592C>T (p.Ala531Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68775395G>C | CA381629939 | CPT1A | c.1496C>G (p.Ala499Gly) c.1592C>G (p.Ala531Gly) | |
| 11 | g.68775395G>T | CA381629942 | CPT1A | c.1496C>A (p.Ala499Glu) c.1592C>A (p.Ala531Glu) | |
| 11 | g.68775396C>A | CA381629944 | CPT1A | c.1495G>T (p.Ala499Ser) c.1591G>T (p.Ala531Ser) | |
| 11 | g.68775396C>G | CA381629945 | CPT1A | c.1495G>C (p.Ala499Pro) c.1591G>C (p.Ala531Pro) | |
| 11 | g.68775396C>T | CA381629946 | CPT1A | c.1495G>A (p.Ala499Thr) c.1591G>A (p.Ala531Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68775397A>C | CA344975 | CPT1A | c.1494T>G (p.Tyr498Ter) c.1590T>G (p.Tyr530Ter) | dbSNP |
| 11 | g.68775397A>G | CA475189950 | CPT1A | c.1494T>C (p.Tyr498=) c.1590T>C (p.Tyr530=) | ClinVar dbSNP |
| 11 | g.68775397A>T | CA344972 | CPT1A | c.1494T>A (p.Tyr498Ter) c.1590T>A (p.Tyr530Ter) | ClinVar dbSNP |
| 11 | g.68775398del | CA2580084777 | CPT1A | c.1493del (p.Tyr498LeufsTer?) c.1589del (p.Tyr530LeufsTer?) | ClinVar |
| 11 | g.68775398T>A | CA381629948 | CPT1A | c.1493A>T (p.Tyr498Phe) c.1589A>T (p.Tyr530Phe) | |
| 11 | g.68775398T>C | CA340856 | CPT1A | c.1493A>G (p.Tyr498Cys) c.1589A>G (p.Tyr530Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.68775398T>G | CA381629950 | CPT1A | c.1493A>C (p.Tyr498Ser) c.1589A>C (p.Tyr530Ser) | gnomAD v4 |
| 11 | g.68775399A>C | CA381629952 | CPT1A | c.1492T>G (p.Tyr498Asp) c.1588T>G (p.Tyr530Asp) | |
| 11 | g.68775399A>G | CA381629954 | CPT1A | c.1492T>C (p.Tyr498His) c.1588T>C (p.Tyr530His) | |
| 11 | g.68775399A>T | CA381629957 | CPT1A | c.1492T>A (p.Tyr498Asn) c.1588T>A (p.Tyr530Asn) | |
| 11 | g.68775400G>A | CA475189969 | CPT1A | c.1491C>T (p.Gly497=) c.1587C>T (p.Gly529=) | |
| 11 | g.68775400G>C | CA475189976 | CPT1A | c.1491C>G (p.Gly497=) c.1587C>G (p.Gly529=) | |
| 11 | g.68775400G>T | CA475189972 | CPT1A | c.1491C>A (p.Gly497=) c.1587C>A (p.Gly529=) | |
| 11 | g.68775401C>A | CA381629959 | CPT1A | c.1490G>T (p.Gly497Val) c.1586G>T (p.Gly529Val) | |
| 11 | g.68775401C>G | CA381629965 | CPT1A | c.1490G>C (p.Gly497Ala) c.1586G>C (p.Gly529Ala) | |
| 11 | g.68775401C>T | CA381629962 | CPT1A | c.1490G>A (p.Gly497Asp) c.1586G>A (p.Gly529Asp) | |
| 11 | g.68775402_68775403dup | CA2695198932 | CPT1A | c.1489_1490dup (p.Tyr498AlafsTer?) c.1585_1586dup (p.Tyr530AlafsTer?) | ClinVar |
| 11 | g.68775402C>A | CA381629968 | CPT1A | c.1489G>T (p.Gly497Cys) c.1585G>T (p.Gly529Cys) | |
| 11 | g.68775402C>G | CA381629971 | CPT1A | c.1489G>C (p.Gly497Arg) c.1585G>C (p.Gly529Arg) | |
| 11 | g.68775402C>T | CA381629974 | CPT1A | c.1489G>A (p.Gly497Ser) c.1585G>A (p.Gly529Ser) | |
| 11 | g.68775403C>A | CA475189997 | CPT1A | c.1488G>T (p.Leu496=) c.1584G>T (p.Leu528=) | |
| 11 | g.68775403C>G | CA475189999 | CPT1A | c.1488G>C (p.Leu496=) c.1584G>C (p.Leu528=) | |
| 11 | g.68775403C>T | CA475189998 | CPT1A | c.1488G>A (p.Leu496=) c.1584G>A (p.Leu528=) | ClinVar dbSNP |
| 11 | g.68775404A>C | CA381629977 | CPT1A | c.1487T>G (p.Leu496Arg) c.1583T>G (p.Leu528Arg) | |
| 11 | g.68775404A>G | CA381629980 | CPT1A | c.1487T>C (p.Leu496Pro) c.1583T>C (p.Leu528Pro) | |
| 11 | g.68775404A>T | CA381629983 | CPT1A | c.1487T>A (p.Leu496Gln) c.1583T>A (p.Leu528Gln) | |
| 11 | g.68775405G>A | CA475190009 | CPT1A | c.1486C>T (p.Leu496=) c.1582C>T (p.Leu528=) | gnomAD v4 |
| 11 | g.68775405G>C | CA381629984 | CPT1A | c.1486C>G (p.Leu496Val) c.1582C>G (p.Leu528Val) | |
| 11 | g.68775405G>T | CA381629985 | CPT1A | c.1486C>A (p.Leu496Met) c.1582C>A (p.Leu528Met) | |
| 11 | g.68775406C>A | CA381629986 | CPT1A | c.1485G>T (p.Gln495His) c.1581G>T (p.Gln527His) | ClinVar |
| 11 | g.68775406C>G | CA381629987 | CPT1A | c.1485G>C (p.Gln495His) c.1581G>C (p.Gln527His) | |
| 11 | g.68775406C>T | CA475190023 | CPT1A | c.1485G>A (p.Gln495=) c.1581G>A (p.Gln527=) |