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.68780674C>A | CA381630741 | CPT1A | c.1424G>T (p.Trp475Leu) c.1520G>T (p.Trp507Leu) | |
| 11 | g.68780674C>G | CA381630742 | CPT1A | c.1424G>C (p.Trp475Ser) c.1520G>C (p.Trp507Ser) | |
| 11 | g.68780674C>T | CA381630743 | CPT1A | c.1424G>A (p.Trp475Ter) c.1520G>A (p.Trp507Ter) | |
| 11 | g.68780675A>C | CA381630744 | CPT1A | c.1423T>G (p.Trp475Gly) c.1519T>G (p.Trp507Gly) | |
| 11 | g.68780675A>G | CA381630745 | CPT1A | c.1423T>C (p.Trp475Arg) c.1519T>C (p.Trp507Arg) | |
| 11 | g.68780675A>T | CA381630746 | CPT1A | c.1423T>A (p.Trp475Arg) c.1519T>A (p.Trp507Arg) | |
| 11 | g.68780676G>A | CA475192811 | CPT1A | c.1422C>T (p.Ser474=) c.1518C>T (p.Ser506=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68780676G>C | CA475192814 | CPT1A | c.1422C>G (p.Ser474=) c.1518C>G (p.Ser506=) | |
| 11 | g.68780676G>T | CA475192818 | CPT1A | c.1422C>A (p.Ser474=) c.1518C>A (p.Ser506=) | |
| 11 | g.68780677G>A | CA381630747 | CPT1A | c.1421C>T (p.Ser474Phe) c.1517C>T (p.Ser506Phe) | |
| 11 | g.68780677G>C | CA381630749 | CPT1A | c.1421C>G (p.Ser474Cys) c.1517C>G (p.Ser506Cys) | |
| 11 | g.68780677G>T | CA381630748 | CPT1A | c.1421C>A (p.Ser474Tyr) c.1517C>A (p.Ser506Tyr) | |
| 11 | g.68780678A>C | CA381630750 | CPT1A | c.1420T>G (p.Ser474Ala) c.1516T>G (p.Ser506Ala) | |
| 11 | g.68780678A>G | CA381630751 | CPT1A | c.1420T>C (p.Ser474Pro) c.1516T>C (p.Ser506Pro) | |
| 11 | g.68780678A>T | CA381630752 | CPT1A | c.1420T>A (p.Ser474Thr) c.1516T>A (p.Ser506Thr) | |
| 11 | g.68780679G>A | CA475192835 | CPT1A | c.1419C>T (p.His473=) c.1515C>T (p.His505=) | |
| 11 | g.68780679G>C | CA381630753 | CPT1A | c.1419C>G (p.His473Gln) c.1515C>G (p.His505Gln) | gnomAD v4 |
| 11 | g.68780679G>T | CA381630754 | CPT1A | c.1419C>A (p.His473Gln) c.1515C>A (p.His505Gln) | |
| 11 | g.68780680T>A | CA381630755 | CPT1A | c.1418A>T (p.His473Leu) c.1514A>T (p.His505Leu) | |
| 11 | g.68780680T>C | CA381630756 | CPT1A | c.1418A>G (p.His473Arg) c.1514A>G (p.His505Arg) | dbSNP gnomAD v4 |
| 11 | g.68780680T>G | CA381630757 | CPT1A | c.1418A>C (p.His473Pro) c.1514A>C (p.His505Pro) | |
| 11 | g.68780681G>A | CA381630758 | CPT1A | c.1417C>T (p.His473Tyr) c.1513C>T (p.His505Tyr) | gnomAD v4 |
| 11 | g.68780681G>C | CA381630759 | CPT1A | c.1417C>G (p.His473Asp) c.1513C>G (p.His505Asp) | |
| 11 | g.68780681G>T | CA381630760 | CPT1A | c.1417C>A (p.His473Asn) c.1513C>A (p.His505Asn) | |
| 11 | g.68780682T>A | CA381630761 | CPT1A | c.1416A>T (p.Glu472Asp) c.1512A>T (p.Glu504Asp) | |
| 11 | g.68780682T>C | CA475192864 | CPT1A | c.1416A>G (p.Glu472=) c.1512A>G (p.Glu504=) | |
| 11 | g.68780682T>G | CA381630762 | CPT1A | c.1416A>C (p.Glu472Asp) c.1512A>C (p.Glu504Asp) | |
| 11 | g.68780683T>A | CA381630765 | CPT1A | c.1415A>T (p.Glu472Val) c.1511A>T (p.Glu504Val) | |
| 11 | g.68780683T>C | CA381630763 | CPT1A | c.1415A>G (p.Glu472Gly) c.1511A>G (p.Glu504Gly) | |
| 11 | g.68780683T>G | CA381630764 | CPT1A | c.1415A>C (p.Glu472Ala) c.1511A>C (p.Glu504Ala) | |
| 11 | g.68780684C>A | CA381630766 | CPT1A | c.1414G>T (p.Glu472Ter) c.1510G>T (p.Glu504Ter) | |
| 11 | g.68780684C>G | CA381630767 | CPT1A | c.1414G>C (p.Glu472Gln) c.1510G>C (p.Glu504Gln) | |
| 11 | g.68780684C>T | CA381630768 | CPT1A | c.1414G>A (p.Glu472Lys) c.1510G>A (p.Glu504Lys) | |
| 11 | g.68780685A>C | CA475192890 | CPT1A | c.1413T>G (p.Ala471=) c.1509T>G (p.Ala503=) | |
| 11 | g.68780685A>G | CA475192892 | CPT1A | c.1413T>C (p.Ala471=) c.1509T>C (p.Ala503=) | dbSNP |
| 11 | g.68780685A>T | CA475192895 | CPT1A | c.1413T>A (p.Ala471=) c.1509T>A (p.Ala503=) | |
| 11 | g.68780686G>A | CA381630769 | CPT1A | c.1412C>T (p.Ala471Val) c.1508C>T (p.Ala503Val) | |
| 11 | g.68780686G>C | CA381630770 | CPT1A | c.1412C>G (p.Ala471Gly) c.1508C>G (p.Ala503Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68780686G>T | CA381630771 | CPT1A | c.1412C>A (p.Ala471Asp) c.1508C>A (p.Ala503Asp) | |
| 11 | g.68780687C>A | CA381630772 | CPT1A | c.1411G>T (p.Ala471Ser) c.1507G>T (p.Ala503Ser) | |
| 11 | g.68780687C>G | CA381630773 | CPT1A | c.1411G>C (p.Ala471Pro) c.1507G>C (p.Ala503Pro) | dbSNP |
| 11 | g.68780687C>T | CA381630774 | CPT1A | c.1411G>A (p.Ala471Thr) c.1507G>A (p.Ala503Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780688G>A | CA6152310 | CPT1A | c.1410C>T (p.Asn470=) c.1506C>T (p.Asn502=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780688G>C | CA381630775 | CPT1A | c.1410C>G (p.Asn470Lys) c.1506C>G (p.Asn502Lys) | |
| 11 | g.68780688G>T | CA381630776 | CPT1A | c.1410C>A (p.Asn470Lys) c.1506C>A (p.Asn502Lys) | |
| 11 | g.68780689T>A | CA381630777 | CPT1A | c.1409A>T (p.Asn470Ile) c.1505A>T (p.Asn502Ile) | |
| 11 | g.68780689T>C | CA381630779 | CPT1A | c.1409A>G (p.Asn470Ser) c.1505A>G (p.Asn502Ser) | |
| 11 | g.68780689T>G | CA381630778 | CPT1A | c.1409A>C (p.Asn470Thr) c.1505A>C (p.Asn502Thr) | |
| 11 | g.68780690T>A | CA381630780 | CPT1A | c.1408A>T (p.Asn470Tyr) c.1504A>T (p.Asn502Tyr) | |
| 11 | g.68780690T>C | CA381630782 | CPT1A | c.1408A>G (p.Asn470Asp) c.1504A>G (p.Asn502Asp) | |
| 11 | g.68780690T>G | CA381630781 | CPT1A | c.1408A>C (p.Asn470His) c.1504A>C (p.Asn502His) | |
| 11 | g.68780691G>A | CA475192933 | CPT1A | c.1407C>T (p.Leu469=) c.1503C>T (p.Leu501=) | dbSNP gnomAD v4 |
| 11 | g.68780691G>C | CA475192936 | CPT1A | c.1407C>G (p.Leu469=) c.1503C>G (p.Leu501=) | |
| 11 | g.68780691G>T | CA475192939 | CPT1A | c.1407C>A (p.Leu469=) c.1503C>A (p.Leu501=) | |
| 11 | g.68780692_68780693del | CA2580084737 | CPT1A | c.1406_1407del (p.Leu469GlnfsTer3) c.1502_1503del (p.Leu501GlnfsTer3) | ClinVar |
| 11 | g.68780692A>C | CA381630783 | CPT1A | c.1406T>G (p.Leu469Arg) c.1502T>G (p.Leu501Arg) | |
| 11 | g.68780692A>G | CA381630785 | CPT1A | c.1406T>C (p.Leu469Pro) c.1502T>C (p.Leu501Pro) | |
| 11 | g.68780692A>T | CA381630784 | CPT1A | c.1406T>A (p.Leu469His) c.1502T>A (p.Leu501His) | |
| 11 | g.68780693G>A | CA381630786 | CPT1A | c.1405C>T (p.Leu469Phe) c.1501C>T (p.Leu501Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68780693G>C | CA381630788 | CPT1A | c.1405C>G (p.Leu469Val) c.1501C>G (p.Leu501Val) | |
| 11 | g.68780693G>T | CA381630787 | CPT1A | c.1405C>A (p.Leu469Ile) c.1501C>A (p.Leu501Ile) | COSMIC COSMIC |
| 11 | g.68780694G>A | CA475192962 | CPT1A | c.1404C>T (p.Gly468=) c.1500C>T (p.Gly500=) | |
| 11 | g.68780694G>C | CA475192965 | CPT1A | c.1404C>G (p.Gly468=) c.1500C>G (p.Gly500=) | |
| 11 | g.68780694G>T | CA475192975 | CPT1A | c.1404C>A (p.Gly468=) c.1500C>A (p.Gly500=) | dbSNP |
| 11 | g.68780695C>A | CA381630789 | CPT1A | c.1403G>T (p.Gly468Val) c.1499G>T (p.Gly500Val) | |
| 11 | g.68780695C>G | CA381630790 | CPT1A | c.1403G>C (p.Gly468Ala) c.1499G>C (p.Gly500Ala) | |
| 11 | g.68780695C>T | CA381630791 | CPT1A | c.1403G>A (p.Gly468Asp) c.1499G>A (p.Gly500Asp) | COSMIC COSMIC |
| 11 | g.68780696C>A | CA381630792 | CPT1A | c.1402G>T (p.Gly468Cys) c.1498G>T (p.Gly500Cys) | |
| 11 | g.68780696C>G | CA381630793 | CPT1A | c.1402G>C (p.Gly468Arg) c.1498G>C (p.Gly500Arg) | |
| 11 | g.68780696C>T | CA381630794 | CPT1A | c.1402G>A (p.Gly468Ser) c.1498G>A (p.Gly500Ser) | |
| 11 | g.68780697C>A | CA381630795 | CPT1A | c.1401G>T (p.Met467Ile) c.1497G>T (p.Met499Ile) | |
| 11 | g.68780697C>G | CA381630796 | CPT1A | c.1401G>C (p.Met467Ile) c.1497G>C (p.Met499Ile) | |
| 11 | g.68780697C>T | CA381630797 | CPT1A | c.1401G>A (p.Met467Ile) c.1497G>A (p.Met499Ile) | |
| 11 | g.68780698A>C | CA381630798 | CPT1A | c.1400T>G (p.Met467Arg) c.1496T>G (p.Met499Arg) | |
| 11 | g.68780698A>G | CA381630799 | CPT1A | c.1400T>C (p.Met467Thr) c.1496T>C (p.Met499Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68780698A>T | CA381630800 | CPT1A | c.1400T>A (p.Met467Lys) c.1496T>A (p.Met499Lys) | |
| 11 | g.68780699T>A | CA381630801 | CPT1A | c.1399A>T (p.Met467Leu) c.1495A>T (p.Met499Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780699T>C | CA381630803 | CPT1A | c.1399A>G (p.Met467Val) c.1495A>G (p.Met499Val) | gnomAD v4 |
| 11 | g.68780699T>G | CA381630802 | CPT1A | c.1399A>C (p.Met467Leu) c.1495A>C (p.Met499Leu) | |
| 11 | g.68780700C>A | CA381630804 | CPT1A | c.1398G>T (p.Lys466Asn) c.1494G>T (p.Lys498Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68780700C>G | CA381630805 | CPT1A | c.1398G>C (p.Lys466Asn) c.1494G>C (p.Lys498Asn) | |
| 11 | g.68780700C>T | CA475193036 | CPT1A | c.1398G>A (p.Lys466=) c.1494G>A (p.Lys498=) | dbSNP |
| 11 | g.68780701T>A | CA381630806 | CPT1A | c.1397A>T (p.Lys466Met) c.1493A>T (p.Lys498Met) | |
| 11 | g.68780701T>C | CA381630807 | CPT1A | c.1397A>G (p.Lys466Arg) c.1493A>G (p.Lys498Arg) | |
| 11 | g.68780701T>G | CA381630808 | CPT1A | c.1397A>C (p.Lys466Thr) c.1493A>C (p.Lys498Thr) | |
| 11 | g.68780702T>A | CA381630809 | CPT1A | c.1396A>T (p.Lys466Ter) c.1492A>T (p.Lys498Ter) | |
| 11 | g.68780702T>C | CA381630810 | CPT1A | c.1396A>G (p.Lys466Glu) c.1492A>G (p.Lys498Glu) | |
| 11 | g.68780702T>G | CA381630811 | CPT1A | c.1396A>C (p.Lys466Gln) c.1492A>C (p.Lys498Gln) | |
| 11 | g.68780703C>A | CA475193067 | CPT1A | c.1395G>T (p.Gly465=) c.1491G>T (p.Gly497=) | ClinVar dbSNP |
| 11 | g.68780703C>G | CA6152311 | CPT1A | c.1395G>C (p.Gly465=) c.1491G>C (p.Gly497=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68780703C>T | CA475193076 | CPT1A | c.1395G>A (p.Gly465=) c.1491G>A (p.Gly497=) | ClinVar dbSNP |
| 11 | g.68780703_68780704insT | CA6152312 | CPT1A | c.1394_1395insA (p.Lys466GlufsTer7) c.1490_1491insA (p.Lys498GlufsTer7) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68780704C>A | CA6152313 | CPT1A | c.1394G>T (p.Gly465Val) c.1490G>T (p.Gly497Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68780704C>G | CA381630812 | CPT1A | c.1394G>C (p.Gly465Ala) c.1490G>C (p.Gly497Ala) | |
| 11 | g.68780704C>T | CA16042851 | CPT1A | c.1394G>A (p.Gly465Glu) c.1490G>A (p.Gly497Glu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68780705C>A | CA344965 | CPT1A | c.1393G>T (p.Gly465Trp) c.1489G>T (p.Gly497Trp) | ClinVar dbSNP |
| 11 | g.68780705C>G | CA381630813 | CPT1A | c.1393G>C (p.Gly465Arg) c.1489G>C (p.Gly497Arg) | |
| 11 | g.68780705C>T | CA6152314 | CPT1A | c.1393G>A (p.Gly465Arg) c.1489G>A (p.Gly497Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780706G>A | CA6152315 | CPT1A | c.1392C>T (p.Asn464=) c.1488C>T (p.Asn496=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780706G>C | CA381630814 | CPT1A | c.1392C>G (p.Asn464Lys) c.1488C>G (p.Asn496Lys) | |
| 11 | g.68780706G>T | CA381630815 | CPT1A | c.1392C>A (p.Asn464Lys) c.1488C>A (p.Asn496Lys) | |
| 11 | g.68780707T>A | CA381630816 | CPT1A | c.1391A>T (p.Asn464Ile) c.1487A>T (p.Asn496Ile) | |
| 11 | g.68780707T>C | CA381630817 | CPT1A | c.1391A>G (p.Asn464Ser) c.1487A>G (p.Asn496Ser) | |
| 11 | g.68780707T>G | CA381630818 | CPT1A | c.1391A>C (p.Asn464Thr) c.1487A>C (p.Asn496Thr) | |
| 11 | g.68780711dup | CA2614734798 | CPT1A | c.1391dup (p.Asn464LysfsTer9) c.1487dup (p.Asn496LysfsTer9) | gnomAD v4 |
| 11 | g.68780708T>A | CA381630819 | CPT1A | c.1390A>T (p.Asn464Tyr) c.1486A>T (p.Asn496Tyr) | |
| 11 | g.68780708T>C | CA381630820 | CPT1A | c.1390A>G (p.Asn464Asp) c.1486A>G (p.Asn496Asp) | |
| 11 | g.68780708T>G | CA381630821 | CPT1A | c.1390A>C (p.Asn464His) c.1486A>C (p.Asn496His) | |
| 11 | g.68780709T>A | CA381630823 | CPT1A | c.1389A>T (p.Lys463Asn) c.1485A>T (p.Lys495Asn) | |
| 11 | g.68780709T>C | CA475193142 | CPT1A | c.1389A>G (p.Lys463=) c.1485A>G (p.Lys495=) | |
| 11 | g.68780709T>G | CA381630822 | CPT1A | c.1389A>C (p.Lys463Asn) c.1485A>C (p.Lys495Asn) | |
| 11 | g.68780710T>A | CA381630824 | CPT1A | c.1388A>T (p.Lys463Ile) c.1484A>T (p.Lys495Ile) | |
| 11 | g.68780710T>C | CA381630825 | CPT1A | c.1388A>G (p.Lys463Arg) c.1484A>G (p.Lys495Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68780710T>G | CA381630826 | CPT1A | c.1388A>C (p.Lys463Thr) c.1484A>C (p.Lys495Thr) | |
| 11 | g.68780711T>A | CA381630827 | CPT1A | c.1387A>T (p.Lys463Ter) c.1483A>T (p.Lys495Ter) | |
| 11 | g.68780711T>C | CA381630828 | CPT1A | c.1387A>G (p.Lys463Glu) c.1483A>G (p.Lys495Glu) | |
| 11 | g.68780711T>G | CA381630829 | CPT1A | c.1387A>C (p.Lys463Gln) c.1483A>C (p.Lys495Gln) | |
| 11 | g.68780712del | CA6152316 | CPT1A | c.1386del (p.Phe462LeufsTer?) c.1482del (p.Phe494LeufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780712G>A | CA475193171 | CPT1A | c.1386C>T (p.Phe462=) c.1482C>T (p.Phe494=) | gnomAD v4 |
| 11 | g.68780712G>C | CA381630830 | CPT1A | c.1386C>G (p.Phe462Leu) c.1482C>G (p.Phe494Leu) | |
| 11 | g.68780712G>T | CA381630831 | CPT1A | c.1386C>A (p.Phe462Leu) c.1482C>A (p.Phe494Leu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68780713A>C | CA381630832 | CPT1A | c.1385T>G (p.Phe462Cys) c.1481T>G (p.Phe494Cys) | |
| 11 | g.68780713A>G | CA381630833 | CPT1A | c.1385T>C (p.Phe462Ser) c.1481T>C (p.Phe494Ser) | |
| 11 | g.68780713A>T | CA381630834 | CPT1A | c.1385T>A (p.Phe462Tyr) c.1481T>A (p.Phe494Tyr) | |
| 11 | g.68780714A>C | CA381630837 | CPT1A | c.1384T>G (p.Phe462Val) c.1480T>G (p.Phe494Val) | |
| 11 | g.68780714A>G | CA381630836 | CPT1A | c.1384T>C (p.Phe462Leu) c.1480T>C (p.Phe494Leu) | |
| 11 | g.68780714A>T | CA381630835 | CPT1A | c.1384T>A (p.Phe462Ile) c.1480T>A (p.Phe494Ile) | |
| 11 | g.68780715G>A | CA475193197 | CPT1A | c.1383C>T (p.Val461=) c.1479C>T (p.Val493=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68780715G>C | CA475193203 | CPT1A | c.1383C>G (p.Val461=) c.1479C>G (p.Val493=) | |
| 11 | g.68780715G>T | CA475193200 | CPT1A | c.1383C>A (p.Val461=) c.1479C>A (p.Val493=) | |
| 11 | g.68780716A>C | CA381630838 | CPT1A | c.1382T>G (p.Val461Gly) c.1478T>G (p.Val493Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68780716A>G | CA381630840 | CPT1A | c.1382T>C (p.Val461Ala) c.1478T>C (p.Val493Ala) | dbSNP gnomAD v4 |
| 11 | g.68780716A>T | CA381630839 | CPT1A | c.1382T>A (p.Val461Asp) c.1478T>A (p.Val493Asp) | gnomAD v4 |
| 11 | g.68780717C>A | CA381630841 | CPT1A | c.1381G>T (p.Val461Phe) c.1477G>T (p.Val493Phe) | |
| 11 | g.68780717C>G | CA381630842 | CPT1A | c.1381G>C (p.Val461Leu) c.1477G>C (p.Val493Leu) | |
| 11 | g.68780717C>T | CA381630843 | CPT1A | c.1381G>A (p.Val461Ile) c.1477G>A (p.Val493Ile) | |
| 11 | g.68780718A>C | CA475193232 | CPT1A | c.1380T>G (p.Val460=) c.1476T>G (p.Val492=) | |
| 11 | g.68780718A>G | CA6152317 | CPT1A | c.1380T>C (p.Val460=) c.1476T>C (p.Val492=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780718A>T | CA475193240 | CPT1A | c.1380T>A (p.Val460=) c.1476T>A (p.Val492=) | |
| 11 | g.68780719A>C | CA381630844 | CPT1A | c.1379T>G (p.Val460Gly) c.1475T>G (p.Val492Gly) | |
| 11 | g.68780719A>G | CA381630845 | CPT1A | c.1379T>C (p.Val460Ala) c.1475T>C (p.Val492Ala) | |
| 11 | g.68780719A>T | CA381630846 | CPT1A | c.1379T>A (p.Val460Asp) c.1475T>A (p.Val492Asp) | |
| 11 | g.68780720C>A | CA381630847 | CPT1A | c.1378G>T (p.Val460Phe) c.1474G>T (p.Val492Phe) | |
| 11 | g.68780720C>G | CA381630848 | CPT1A | c.1378G>C (p.Val460Leu) c.1474G>C (p.Val492Leu) | |
| 11 | g.68780720C>T | CA381630849 | CPT1A | c.1378G>A (p.Val460Ile) c.1474G>A (p.Val492Ile) | |
| 11 | g.68780721A>C | CA381630850 | CPT1A | c.1377T>G (p.Phe459Leu) c.1473T>G (p.Phe491Leu) | |
| 11 | g.68780721A>G | CA475193257 | CPT1A | c.1377T>C (p.Phe459=) c.1473T>C (p.Phe491=) | |
| 11 | g.68780721A>T | CA381630851 | CPT1A | c.1377T>A (p.Phe459Leu) c.1473T>A (p.Phe491Leu) | |
| 11 | g.68780722A>C | CA381630852 | CPT1A | c.1376T>G (p.Phe459Cys) c.1472T>G (p.Phe491Cys) | |
| 11 | g.68780722A>G | CA381630854 | CPT1A | c.1376T>C (p.Phe459Ser) c.1472T>C (p.Phe491Ser) | gnomAD v4 |
| 11 | g.68780722A>T | CA381630853 | CPT1A | c.1376T>A (p.Phe459Tyr) c.1472T>A (p.Phe491Tyr) | |
| 11 | g.68780723A>C | CA381630855 | CPT1A | c.1375T>G (p.Phe459Val) c.1471T>G (p.Phe491Val) | |
| 11 | g.68780723A>G | CA381630856 | CPT1A | c.1375T>C (p.Phe459Leu) c.1471T>C (p.Phe491Leu) | |
| 11 | g.68780723A>T | CA381630857 | CPT1A | c.1375T>A (p.Phe459Ile) c.1471T>A (p.Phe491Ile) | |
| 11 | g.68780724C>A | CA475193291 | CPT1A | c.1374G>T (p.Thr458=) c.1470G>T (p.Thr490=) | |
| 11 | g.68780724C>G | CA475193294 | CPT1A | c.1374G>C (p.Thr458=) c.1470G>C (p.Thr490=) | |
| 11 | g.68780724C>T | CA6152318 | CPT1A | c.1374G>A (p.Thr458=) c.1470G>A (p.Thr490=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780725G>A | CA6152319 | CPT1A | c.1373C>T (p.Thr458Met) c.1469C>T (p.Thr490Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68780725G>C | CA381630858 | CPT1A | c.1373C>G (p.Thr458Arg) c.1469C>G (p.Thr490Arg) | |
| 11 | g.68780725G>T | CA381630859 | CPT1A | c.1373C>A (p.Thr458Lys) c.1469C>A (p.Thr490Lys) | |
| 11 | g.68780726T>A | CA381630860 | CPT1A | c.1372A>T (p.Thr458Ser) c.1468A>T (p.Thr490Ser) | |
| 11 | g.68780726T>C | CA381630861 | CPT1A | c.1372A>G (p.Thr458Ala) c.1468A>G (p.Thr490Ala) | |
| 11 | g.68780726T>G | CA381630862 | CPT1A | c.1372A>C (p.Thr458Pro) c.1468A>C (p.Thr490Pro) | |
| 11 | g.68780727G>A | CA475193336 | CPT1A | c.1371C>T (p.Phe457=) c.1467C>T (p.Phe489=) | dbSNP gnomAD v4 COSMIC COSMIC |
| 11 | g.68780727G>C | CA381630864 | CPT1A | c.1371C>G (p.Phe457Leu) c.1467C>G (p.Phe489Leu) | |
| 11 | g.68780727G>T | CA381630863 | CPT1A | c.1371C>A (p.Phe457Leu) c.1467C>A (p.Phe489Leu) | |
| 11 | g.68780728A>C | CA6152320 | CPT1A | c.1370T>G (p.Phe457Cys) c.1466T>G (p.Phe489Cys) | dbSNP ExAC gnomAD v2 |
| 11 | g.68780728A>G | CA381630865 | CPT1A | c.1370T>C (p.Phe457Ser) c.1466T>C (p.Phe489Ser) | |
| 11 | g.68780728A>T | CA381630866 | CPT1A | c.1370T>A (p.Phe457Tyr) c.1466T>A (p.Phe489Tyr) | |
| 11 | g.68780729A>C | CA381630867 | CPT1A | c.1369T>G (p.Phe457Val) c.1465T>G (p.Phe489Val) | |
| 11 | g.68780729A>G | CA381630868 | CPT1A | c.1369T>C (p.Phe457Leu) c.1465T>C (p.Phe489Leu) | |
| 11 | g.68780729A>T | CA381630869 | CPT1A | c.1369T>A (p.Phe457Ile) c.1465T>A (p.Phe489Ile) | |
| 11 | g.68780730C>A | CA475193358 | CPT1A | c.1368G>T (p.Ser456=) c.1464G>T (p.Ser488=) | |
| 11 | g.68780730C>G | CA475193362 | CPT1A | c.1368G>C (p.Ser456=) c.1464G>C (p.Ser488=) | ClinVar dbSNP |
| 11 | g.68780730C>T | CA6152321 | CPT1A | c.1368G>A (p.Ser456=) c.1464G>A (p.Ser488=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68780731G>A | CA381630870 | CPT1A | c.1367C>T (p.Ser456Leu) c.1463C>T (p.Ser488Leu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68780731G>C | CA381630871 | CPT1A | c.1367C>G (p.Ser456Trp) c.1463C>G (p.Ser488Trp) | |
| 11 | g.68780731G>T | CA381630872 | CPT1A | c.1367C>A (p.Ser456Ter) c.1463C>A (p.Ser488Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68780732A>C | CA381630873 | CPT1A | c.1366T>G (p.Ser456Ala) c.1462T>G (p.Ser488Ala) | |
| 11 | g.68780732A>G | CA381630874 | CPT1A | c.1366T>C (p.Ser456Pro) c.1462T>C (p.Ser488Pro) | COSMIC |
| 11 | g.68780732A>T | CA381630875 | CPT1A | c.1366T>A (p.Ser456Thr) c.1462T>A (p.Ser488Thr) | |
| 11 | g.68780733C>A | CA381630877 | CPT1A | c.1365G>T (p.Lys455Asn) c.1461G>T (p.Lys487Asn) | |
| 11 | g.68780733C>G | CA381630876 | CPT1A | c.1365G>C (p.Lys455Asn) c.1461G>C (p.Lys487Asn) | |
| 11 | g.68780733C>T | CA475193415 | CPT1A | c.1365G>A (p.Lys455=) c.1461G>A (p.Lys487=) | |
| 11 | g.68780734T>A | CA381630878 | CPT1A | c.1364A>T (p.Lys455Met) c.1460A>T (p.Lys487Met) | |
| 11 | g.68780734T>C | CA381630879 | CPT1A | c.1364A>G (p.Lys455Arg) c.1460A>G (p.Lys487Arg) | gnomAD v4 |
| 11 | g.68780734T>G | CA274426 | CPT1A | c.1364A>C (p.Lys455Thr) c.1460A>C (p.Lys487Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780735T>A | CA381630880 | CPT1A | c.1363A>T (p.Lys455Ter) c.1459A>T (p.Lys487Ter) | |
| 11 | g.68780735T>C | CA381630881 | CPT1A | c.1363A>G (p.Lys455Glu) c.1459A>G (p.Lys487Glu) | |
| 11 | g.68780735T>G | CA381630882 | CPT1A | c.1363A>C (p.Lys455Gln) c.1459A>C (p.Lys487Gln) | |
| 11 | g.68780736G>A | CA475193429 | CPT1A | c.1362C>T (p.Asp454=) c.1458C>T (p.Asp486=) | |
| 11 | g.68780736G>C | CA381630883 | CPT1A | c.1362C>G (p.Asp454Glu) c.1458C>G (p.Asp486Glu) | |
| 11 | g.68780736G>T | CA381630884 | CPT1A | c.1362C>A (p.Asp454Glu) c.1458C>A (p.Asp486Glu) | |
| 11 | g.68780737T>A | CA381630885 | CPT1A | c.1361A>T (p.Asp454Val) c.1457A>T (p.Asp486Val) | |
| 11 | g.68780737T>C | CA340848 | CPT1A | c.1361A>G (p.Asp454Gly) c.1457A>G (p.Asp486Gly) | ClinVar dbSNP |
| 11 | g.68780737T>G | CA381630886 | CPT1A | c.1361A>C (p.Asp454Ala) c.1457A>C (p.Asp486Ala) | |
| 11 | g.68780738C>A | CA6152322 | CPT1A | c.1360G>T (p.Asp454Tyr) c.1456G>T (p.Asp486Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68780738C>G | CA381630887 | CPT1A | c.1360G>C (p.Asp454His) c.1456G>C (p.Asp486His) | |
| 11 | g.68780738C>T | CA381630888 | CPT1A | c.1360G>A (p.Asp454Asn) c.1456G>A (p.Asp486Asn) | COSMIC |
| 11 | g.68780739A>C | CA381630890 | CPT1A | c.1359T>G (p.Phe453Leu) c.1455T>G (p.Phe485Leu) | |
| 11 | g.68780739A>G | CA475193452 | CPT1A | c.1359T>C (p.Phe453=) c.1455T>C (p.Phe485=) | |
| 11 | g.68780739A>T | CA381630889 | CPT1A | c.1359T>A (p.Phe453Leu) c.1455T>A (p.Phe485Leu) | |
| 11 | g.68780740A>C | CA381630891 | CPT1A | c.1358T>G (p.Phe453Cys) c.1454T>G (p.Phe485Cys) | |
| 11 | g.68780740A>G | CA381630893 | CPT1A | c.1358T>C (p.Phe453Ser) c.1454T>C (p.Phe485Ser) | |
| 11 | g.68780740A>T | CA381630892 | CPT1A | c.1358T>A (p.Phe453Tyr) c.1454T>A (p.Phe485Tyr) | |
| 11 | g.68780741A>C | CA223373768 | CPT1A | c.1357T>G (p.Phe453Val) c.1453T>G (p.Phe485Val) | dbSNP |
| 11 | g.68780741A>G | CA381630895 | CPT1A | c.1357T>C (p.Phe453Leu) c.1453T>C (p.Phe485Leu) | |
| 11 | g.68780741A>T | CA381630894 | CPT1A | c.1357T>A (p.Phe453Ile) c.1453T>A (p.Phe485Ile) | |
| 11 | g.68780742C>A | CA381630896 | CPT1A | c.1356G>T (p.Trp452Cys) c.1452G>T (p.Trp484Cys) | |
| 11 | g.68780742C>G | CA381630897 | CPT1A | c.1356G>C (p.Trp452Cys) c.1452G>C (p.Trp484Cys) | |
| 11 | g.68780742C>T | CA381630898 | CPT1A | c.1356G>A (p.Trp452Ter) c.1452G>A (p.Trp484Ter) | |
| 11 | g.68780743C>A | CA381630899 | CPT1A | c.1355G>T (p.Trp452Leu) c.1451G>T (p.Trp484Leu) | |
| 11 | g.68780743C>G | CA381630900 | CPT1A | c.1355G>C (p.Trp452Ser) c.1451G>C (p.Trp484Ser) | |
| 11 | g.68780743C>T | CA381630901 | CPT1A | c.1355G>A (p.Trp452Ter) c.1451G>A (p.Trp484Ter) | |
| 11 | g.68780744A>C | CA381630902 | CPT1A | c.1354T>G (p.Trp452Gly) c.1450T>G (p.Trp484Gly) | |
| 11 | g.68780744A>G | CA381630903 | CPT1A | c.1354T>C (p.Trp452Arg) c.1450T>C (p.Trp484Arg) | |
| 11 | g.68780744A>T | CA381630904 | CPT1A | c.1354T>A (p.Trp452Arg) c.1450T>A (p.Trp484Arg) | |
| 11 | g.68780745C>A | CA381630905 | CPT1A | c.1353G>T (p.Arg451Ser) c.1449G>T (p.Arg483Ser) | |
| 11 | g.68780745C>G | CA381630906 | CPT1A | c.1353G>C (p.Arg451Ser) c.1449G>C (p.Arg483Ser) | |
| 11 | g.68780745C>T | CA475193492 | CPT1A | c.1353G>A (p.Arg451=) c.1449G>A (p.Arg483=) | |
| 11 | g.68780746C>A | CA381630909 | CPT1A | c.1353-1G>T (n.1353-1G>T) c.1449-1G>T (n.1449-1G>T) | |
| 11 | g.68780746C>G | CA381630908 | CPT1A | c.1353-1G>C (n.1353-1G>C) c.1449-1G>C (n.1449-1G>C) | |
| 11 | g.68780746C>T | CA381630907 | CPT1A | c.1353-1G>A (n.1353-1G>A) c.1449-1G>A (n.1449-1G>A) | |
| 11 | g.68780747T>A | CA381630910 | CPT1A | c.1353-2A>T (n.1353-2A>T) c.1449-2A>T (n.1449-2A>T) | |
| 11 | g.68780747T>C | CA381630911 | CPT1A | c.1353-2A>G (n.1353-2A>G) c.1449-2A>G (n.1449-2A>G) | |
| 11 | g.68780747T>G | CA381630912 | CPT1A | c.1353-2A>C (n.1353-2A>C) c.1449-2A>C (n.1449-2A>C) | |
| 11 | g.68780747_68780748insGTCGTAACATCGGCCGTGTAGTAGAGATTTGGCGTAGCTGTCCATTG | CA2724559772 | CPT1A | c.1353-3_1353-2insCAATGGACAGCTACGCCAAATCTCTACTACACGGCCGATGTTACGAC (n.1353-3_1353-2insCAATGGACAGCTACGCCAAATCTCTACTACACGGCCGATGTTACGAC) c.1449-3_1449-2insCAATGGACAGCTACGCCAAATCTCTACTACACGGCCGATGTTACGAC (n.1449-3_1449-2insCAATGGACAGCTACGCCAAATCTCTACTACACGGCCGATGTTACGAC) | dbSNP |
| 11 | g.68780748A>G | CA2614734799 | CPT1A | c.1353-3T>C (n.1353-3T>C) c.1449-3T>C (n.1449-3T>C) | gnomAD v4 |
| 11 | g.68780749C>A | CA6152323 | CPT1A | c.1353-4G>T (n.1353-4G>T) c.1449-4G>T (n.1449-4G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68780749C>T | CA6152324 | CPT1A | c.1353-4G>A (n.1353-4G>A) c.1449-4G>A (n.1449-4G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780750G>A | CA6152325 | CPT1A | c.1353-5C>T (n.1353-5C>T) c.1449-5C>T (n.1449-5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780752G>A | CA2574903203 | CPT1A | c.1353-7C>T (n.1353-7C>T) c.1449-7C>T (n.1449-7C>T) | dbSNP gnomAD v4 |
| 11 | g.68780753A>G | CA2573147549 | CPT1A | c.1353-8T>C (n.1353-8T>C) c.1449-8T>C (n.1449-8T>C) | ClinVar dbSNP |
| 11 | g.68780755del | CA2614734800 | CPT1A | c.1353-8del (n.1353-8del) c.1449-8del (n.1449-8del) | gnomAD v4 |
| 11 | g.68780760_68780761del | CA599988965 | CPT1A | c.1353-11_1353-10del (n.1353-11_1353-10del) c.1449-11_1449-10del (n.1449-11_1449-10del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68780756C>T | CA223373778 | CPT1A | c.1353-11G>A (n.1353-11G>A) c.1449-11G>A (n.1449-11G>A) | dbSNP gnomAD v4 |
| 11 | g.68780757A>G | CA2792552935 | CPT1A | c.1353-12T>C (n.1353-12T>C) c.1449-12T>C (n.1449-12T>C) | |
| 11 | g.68780758C>A | CA599988966 | CPT1A | c.1353-13G>T (n.1353-13G>T) c.1449-13G>T (n.1449-13G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68780758C>T | CA599988967 | CPT1A | c.1353-13G>A (n.1353-13G>A) c.1449-13G>A (n.1449-13G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780759A>T | CA599988968 | CPT1A | c.1353-14T>A (n.1353-14T>A) c.1449-14T>A (n.1449-14T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68780760C>G | CA2739270621 | CPT1A | c.1353-15G>C (n.1353-15G>C) c.1449-15G>C (n.1449-15G>C) | ClinVar |
| 11 | g.68780760C>T | CA6152326 | CPT1A | c.1353-15G>A (n.1353-15G>A) c.1449-15G>A (n.1449-15G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780761A>G | CA2614734801 | CPT1A | c.1353-16T>C (n.1353-16T>C) c.1449-16T>C (n.1449-16T>C) | gnomAD v4 |
| 11 | g.68780761A>T | CA2739270622 | CPT1A | c.1353-16T>A (n.1353-16T>A) c.1449-16T>A (n.1449-16T>A) | ClinVar |
| 11 | g.68780761_68780762del | CA6152327 | CPT1A | c.1353-17_1353-16del (n.1353-17_1353-16del) c.1449-17_1449-16del (n.1449-17_1449-16del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780762T>A | CA2724232818 | CPT1A | c.1353-17A>T (n.1353-17A>T) c.1449-17A>T (n.1449-17A>T) | dbSNP |
| 11 | g.68780762T>C | CA599988969 | CPT1A | c.1353-17A>G (n.1353-17A>G) c.1449-17A>G (n.1449-17A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780762T>G | CA2614734802 | CPT1A | c.1353-17A>C (n.1353-17A>C) c.1449-17A>C (n.1449-17A>C) | gnomAD v4 |
| 11 | g.68780763G>A | CA2614734803 | CPT1A | c.1353-18C>T (n.1353-18C>T) c.1449-18C>T (n.1449-18C>T) | gnomAD v4 |
| 11 | g.68780763G>C | CA223373787 | CPT1A | c.1353-18C>G (n.1353-18C>G) c.1449-18C>G (n.1449-18C>G) | dbSNP |
| 11 | g.68780763G>T | CA2614734804 | CPT1A | c.1353-18C>A (n.1353-18C>A) c.1449-18C>A (n.1449-18C>A) | gnomAD v4 |
| 11 | g.68780765G>A | CA2574903204 | CPT1A | c.1353-20C>T (n.1353-20C>T) c.1449-20C>T (n.1449-20C>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68780765G>T | CA2614734806 | CPT1A | c.1353-20C>A (n.1353-20C>A) c.1449-20C>A (n.1449-20C>A) | gnomAD v4 |
| 11 | g.68780767G>A | CA2614734807 | CPT1A | c.1353-22C>T (n.1353-22C>T) c.1449-22C>T (n.1449-22C>T) | gnomAD v4 |
| 11 | g.68780767G>T | CA2614734808 | CPT1A | c.1353-22C>A (n.1353-22C>A) c.1449-22C>A (n.1449-22C>A) | gnomAD v4 |
| 11 | g.68780768G>A | CA6152328 | CPT1A | c.1353-23C>T (n.1353-23C>T) c.1449-23C>T (n.1449-23C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68780768G>T | CA2614734809 | CPT1A | c.1353-23C>A (n.1353-23C>A) c.1449-23C>A (n.1449-23C>A) | gnomAD v4 |
| 11 | g.68780769A>G | CA6152329 | CPT1A | c.1353-24T>C (n.1353-24T>C) c.1449-24T>C (n.1449-24T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780770A>G | CA2614734810 | CPT1A | c.1353-25T>C (n.1353-25T>C) c.1449-25T>C (n.1449-25T>C) | gnomAD v4 |
| 11 | g.68780771C>T | CA2574903205 | CPT1A | c.1353-26G>A (n.1353-26G>A) c.1449-26G>A (n.1449-26G>A) | gnomAD v4 |
| 11 | g.68780772T>A | CA599988970 | CPT1A | c.1353-27A>T (n.1353-27A>T) c.1449-27A>T (n.1449-27A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68780772T>C | CA2614734813 | CPT1A | c.1353-27A>G (n.1353-27A>G) c.1449-27A>G (n.1449-27A>G) | gnomAD v4 |
| 11 | g.68780772T>G | CA6152330 | CPT1A | c.1353-27A>C (n.1353-27A>C) c.1449-27A>C (n.1449-27A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68780773T>G | CA2614734815 | CPT1A | c.1353-28A>C (n.1353-28A>C) c.1449-28A>C (n.1449-28A>C) | dbSNP gnomAD v4 |
| 11 | g.68780774A>C | CA6152331 | CPT1A | c.1353-29T>G (n.1353-29T>G) c.1449-29T>G (n.1449-29T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |