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.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=) | |
| 11 | g.68775407T>A | CA381629992 | CPT1A | c.1484A>T (p.Gln495Leu) c.1580A>T (p.Gln527Leu) | |
| 11 | g.68775407T>C | CA381629991 | CPT1A | c.1484A>G (p.Gln495Arg) c.1580A>G (p.Gln527Arg) | dbSNP gnomAD v4 |
| 11 | g.68775407T>G | CA381629989 | CPT1A | c.1484A>C (p.Gln495Pro) c.1580A>C (p.Gln527Pro) | |
| 11 | g.68775408G>A | CA381629997 | CPT1A | c.1483C>T (p.Gln495Ter) c.1579C>T (p.Gln527Ter) | COSMIC COSMIC |
| 11 | g.68775408G>C | CA381629999 | CPT1A | c.1483C>G (p.Gln495Glu) c.1579C>G (p.Gln527Glu) | |
| 11 | g.68775408G>T | CA381630003 | CPT1A | c.1483C>A (p.Gln495Lys) c.1579C>A (p.Gln527Lys) | |
| 11 | g.68775409G>A | CA475190037 | CPT1A | c.1482C>T (p.Leu494=) c.1578C>T (p.Leu526=) | |
| 11 | g.68775409G>C | CA475190042 | CPT1A | c.1482C>G (p.Leu494=) c.1578C>G (p.Leu526=) | COSMIC COSMIC |
| 11 | g.68775409G>T | CA475190038 | CPT1A | c.1482C>A (p.Leu494=) c.1578C>A (p.Leu526=) | dbSNP gnomAD v4 |
| 11 | g.68775410A>C | CA381630008 | CPT1A | c.1481T>G (p.Leu494Arg) c.1577T>G (p.Leu526Arg) | |
| 11 | g.68775410A>G | CA381630011 | CPT1A | c.1481T>C (p.Leu494Pro) c.1577T>C (p.Leu526Pro) | |
| 11 | g.68775410A>T | CA381630014 | CPT1A | c.1481T>A (p.Leu494His) c.1577T>A (p.Leu526His) | |
| 11 | g.68775411G>A | CA381630020 | CPT1A | c.1480C>T (p.Leu494Phe) c.1576C>T (p.Leu526Phe) | |
| 11 | g.68775411G>C | CA381630016 | CPT1A | c.1480C>G (p.Leu494Val) c.1576C>G (p.Leu526Val) | |
| 11 | g.68775411G>T | CA381630018 | CPT1A | c.1480C>A (p.Leu494Ile) c.1576C>A (p.Leu526Ile) | |
| 11 | g.68775412G>A | CA475190056 | CPT1A | c.1479C>T (p.Ser493=) c.1575C>T (p.Ser525=) | |
| 11 | g.68775412G>C | CA381630024 | CPT1A | c.1479C>G (p.Ser493Arg) c.1575C>G (p.Ser525Arg) | |
| 11 | g.68775412G>T | CA381630026 | CPT1A | c.1479C>A (p.Ser493Arg) c.1575C>A (p.Ser525Arg) | |
| 11 | g.68775413C>A | CA381630029 | CPT1A | c.1478G>T (p.Ser493Ile) c.1574G>T (p.Ser525Ile) | |
| 11 | g.68775413C>G | CA381630032 | CPT1A | c.1478G>C (p.Ser493Thr) c.1574G>C (p.Ser525Thr) | gnomAD v4 |
| 11 | g.68775413C>T | CA381630034 | CPT1A | c.1478G>A (p.Ser493Asn) c.1574G>A (p.Ser525Asn) | |
| 11 | g.68775414T>A | CA381630043 | CPT1A | c.1477A>T (p.Ser493Cys) c.1573A>T (p.Ser525Cys) | gnomAD v4 |
| 11 | g.68775414T>C | CA381630037 | CPT1A | c.1477A>G (p.Ser493Gly) c.1573A>G (p.Ser525Gly) | dbSNP gnomAD v4 COSMIC COSMIC |
| 11 | g.68775414T>G | CA381630040 | CPT1A | c.1477A>C (p.Ser493Arg) c.1573A>C (p.Ser525Arg) | gnomAD v4 |
| 11 | g.68775415G>A | CA475190069 | CPT1A | c.1476C>T (p.Asp492=) c.1572C>T (p.Asp524=) | COSMIC COSMIC |
| 11 | g.68775415G>C | CA381630045 | CPT1A | c.1476C>G (p.Asp492Glu) c.1572C>G (p.Asp524Glu) | |
| 11 | g.68775415G>T | CA381630048 | CPT1A | c.1476C>A (p.Asp492Glu) c.1572C>A (p.Asp524Glu) | |
| 11 | g.68775416T>A | CA381630053 | CPT1A | c.1475A>T (p.Asp492Val) c.1571A>T (p.Asp524Val) | |
| 11 | g.68775416T>C | CA381630056 | CPT1A | c.1475A>G (p.Asp492Gly) c.1571A>G (p.Asp524Gly) | |
| 11 | g.68775416T>G | CA381630058 | CPT1A | c.1475A>C (p.Asp492Ala) c.1571A>C (p.Asp524Ala) | |
| 11 | g.68775417C>A | CA381630061 | CPT1A | c.1474G>T (p.Asp492Tyr) c.1570G>T (p.Asp524Tyr) | |
| 11 | g.68775417C>G | CA381630063 | CPT1A | c.1474G>C (p.Asp492His) c.1570G>C (p.Asp524His) | ClinVar dbSNP gnomAD v2 |
| 11 | g.68775417C>T | CA381630065 | CPT1A | c.1474G>A (p.Asp492Asn) c.1570G>A (p.Asp524Asn) | COSMIC |
| 11 | g.68775418A>C | CA381630069 | CPT1A | c.1473T>G (p.Ile491Met) c.1569T>G (p.Ile523Met) | |
| 11 | g.68775418A>G | CA475190102 | CPT1A | c.1473T>C (p.Ile491=) c.1569T>C (p.Ile523=) | gnomAD v4 |
| 11 | g.68775418A>T | CA475190105 | CPT1A | c.1473T>A (p.Ile491=) c.1569T>A (p.Ile523=) | |
| 11 | g.68775419A>C | CA381630072 | CPT1A | c.1472T>G (p.Ile491Ser) c.1568T>G (p.Ile523Ser) | |
| 11 | g.68775419A>G | CA6152291 | CPT1A | c.1472T>C (p.Ile491Thr) c.1568T>C (p.Ile523Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68775419A>T | CA381630076 | CPT1A | c.1472T>A (p.Ile491Asn) c.1568T>A (p.Ile523Asn) | |
| 11 | g.68775420T>A | CA381630080 | CPT1A | c.1471A>T (p.Ile491Phe) c.1567A>T (p.Ile523Phe) | |
| 11 | g.68775420T>C | CA381630086 | CPT1A | c.1471A>G (p.Ile491Val) c.1567A>G (p.Ile523Val) | ClinVar |
| 11 | g.68775420T>G | CA381630084 | CPT1A | c.1471A>C (p.Ile491Leu) c.1567A>C (p.Ile523Leu) | |
| 11 | g.68775421G>A | CA475190123 | CPT1A | c.1470C>T (p.Ser490=) c.1566C>T (p.Ser522=) | |
| 11 | g.68775421G>C | CA475190127 | CPT1A | c.1470C>G (p.Ser490=) c.1566C>G (p.Ser522=) | |
| 11 | g.68775421G>T | CA475190129 | CPT1A | c.1470C>A (p.Ser490=) c.1566C>A (p.Ser522=) | gnomAD v4 |
| 11 | g.68775422G>A | CA381630091 | CPT1A | c.1469C>T (p.Ser490Phe) c.1565C>T (p.Ser522Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68775422G>C | CA381630092 | CPT1A | c.1469C>G (p.Ser490Cys) c.1565C>G (p.Ser522Cys) | |
| 11 | g.68775422G>T | CA381630094 | CPT1A | c.1469C>A (p.Ser490Tyr) c.1565C>A (p.Ser522Tyr) | |
| 11 | g.68775423A>C | CA381630097 | CPT1A | c.1468T>G (p.Ser490Ala) c.1564T>G (p.Ser522Ala) | |
| 11 | g.68775423A>G | CA381630100 | CPT1A | c.1468T>C (p.Ser490Pro) c.1564T>C (p.Ser522Pro) | dbSNP |
| 11 | g.68775423A>T | CA381630103 | CPT1A | c.1468T>A (p.Ser490Thr) c.1564T>A (p.Ser522Thr) | |
| 11 | g.68775424C>A | CA381630107 | CPT1A | c.1467G>T (p.Met489Ile) c.1563G>T (p.Met521Ile) | |
| 11 | g.68775424C>G | CA381630109 | CPT1A | c.1467G>C (p.Met489Ile) c.1563G>C (p.Met521Ile) | |
| 11 | g.68775424C>T | CA240064 | CPT1A | c.1467G>A (p.Met489Ile) c.1563G>A (p.Met521Ile) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68775425A>C | CA381630115 | CPT1A | c.1466T>G (p.Met489Arg) c.1562T>G (p.Met521Arg) | |
| 11 | g.68775425A>G | CA381630117 | CPT1A | c.1466T>C (p.Met489Thr) c.1562T>C (p.Met521Thr) | gnomAD v4 |
| 11 | g.68775425A>T | CA381630121 | CPT1A | c.1466T>A (p.Met489Lys) c.1562T>A (p.Met521Lys) | |
| 11 | g.68775426T>A | CA381630125 | CPT1A | c.1465A>T (p.Met489Leu) c.1561A>T (p.Met521Leu) | dbSNP |
| 11 | g.68775426T>C | CA223371810 | CPT1A | c.1465A>G (p.Met489Val) c.1561A>G (p.Met521Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68775426T>G | CA381630124 | CPT1A | c.1465A>C (p.Met489Leu) c.1561A>C (p.Met521Leu) | |
| 11 | g.68775427G>A | CA475190192 | CPT1A | c.1464C>T (p.Val488=) c.1560C>T (p.Val520=) | |
| 11 | g.68775427G>C | CA475190193 | CPT1A | c.1464C>G (p.Val488=) c.1560C>G (p.Val520=) | |
| 11 | g.68775427G>T | CA475190194 | CPT1A | c.1464C>A (p.Val488=) c.1560C>A (p.Val520=) | |
| 11 | g.68775428A>C | CA381630126 | CPT1A | c.1463T>G (p.Val488Gly) c.1559T>G (p.Val520Gly) | |
| 11 | g.68775428A>G | CA381630128 | CPT1A | c.1463T>C (p.Val488Ala) c.1559T>C (p.Val520Ala) | |
| 11 | g.68775428A>T | CA381630130 | CPT1A | c.1463T>A (p.Val488Asp) c.1559T>A (p.Val520Asp) | |
| 11 | g.68775429C>A | CA381630132 | CPT1A | c.1462G>T (p.Val488Phe) c.1558G>T (p.Val520Phe) | |
| 11 | g.68775429C>G | CA381630135 | CPT1A | c.1462G>C (p.Val488Leu) c.1558G>C (p.Val520Leu) | |
| 11 | g.68775429C>T | CA6152292 | CPT1A | c.1462G>A (p.Val488Ile) c.1558G>A (p.Val520Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68775430G>A | CA6152293 | CPT1A | c.1461C>T (p.Tyr487=) c.1557C>T (p.Tyr519=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68775430G>C | CA381630143 | CPT1A | c.1461C>G (p.Tyr487Ter) c.1557C>G (p.Tyr519Ter) | gnomAD v4 |
| 11 | g.68775430G>T | CA381630146 | CPT1A | c.1461C>A (p.Tyr487Ter) c.1557C>A (p.Tyr519Ter) | gnomAD v4 |
| 11 | g.68775431T>A | CA381630150 | CPT1A | c.1460A>T (p.Tyr487Phe) c.1556A>T (p.Tyr519Phe) | |
| 11 | g.68775431T>C | CA381630152 | CPT1A | c.1460A>G (p.Tyr487Cys) c.1556A>G (p.Tyr519Cys) | |
| 11 | g.68775431T>G | CA381630154 | CPT1A | c.1460A>C (p.Tyr487Ser) c.1556A>C (p.Tyr519Ser) | |
| 11 | g.68775432A>C | CA223371829 | CPT1A | c.1459T>G (p.Tyr487Asp) c.1555T>G (p.Tyr519Asp) | ClinVar dbSNP |
| 11 | g.68775432A>G | CA381630160 | CPT1A | c.1459T>C (p.Tyr487His) c.1555T>C (p.Tyr519His) | |
| 11 | g.68775432A>T | CA381630156 | CPT1A | c.1459T>A (p.Tyr487Asn) c.1555T>A (p.Tyr519Asn) | |
| 11 | g.68775433C>A | CA381630167 | CPT1A | c.1459-1G>T (n.1459-1G>T) c.1555-1G>T (n.1555-1G>T) | |
| 11 | g.68775433C>G | CA381630163 | CPT1A | c.1459-1G>C (n.1459-1G>C) c.1555-1G>C (n.1555-1G>C) | |
| 11 | g.68775433C>T | CA16041536 | CPT1A | c.1459-1G>A (n.1459-1G>A) c.1555-1G>A (n.1555-1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.68775434T>A | CA381630170 | CPT1A | c.1459-2A>T (n.1459-2A>T) c.1555-2A>T (n.1555-2A>T) | |
| 11 | g.68775434T>C | CA381630172 | CPT1A | c.1459-2A>G (n.1459-2A>G) c.1555-2A>G (n.1555-2A>G) | |
| 11 | g.68775434T>G | CA381630174 | CPT1A | c.1459-2A>C (n.1459-2A>C) c.1555-2A>C (n.1555-2A>C) | |
| 11 | g.68775435G>A | CA6152294 | CPT1A | c.1459-3C>T (n.1459-3C>T) c.1555-3C>T (n.1555-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68775436T>G | CA2792552768 | CPT1A | c.1459-4A>C (n.1459-4A>C) c.1555-4A>C (n.1555-4A>C) | |
| 11 | g.68775437C>A | CA223371835 | CPT1A | c.1459-5G>T (n.1459-5G>T) c.1555-5G>T (n.1555-5G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68775442dup | CA6152295 | CPT1A | c.1459-6dup (n.1459-6dup) c.1555-6dup (n.1555-6dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68775442del | CA2614734485 | CPT1A | c.1459-6del (n.1459-6del) c.1555-6del (n.1555-6del) | gnomAD v4 |
| 11 | g.68775440A>G | CA2724277212 | CPT1A | c.1459-8T>C (n.1459-8T>C) c.1555-8T>C (n.1555-8T>C) | dbSNP |
| 11 | g.68775442A>G | CA2574903171 | CPT1A | c.1459-10T>C (n.1459-10T>C) c.1555-10T>C (n.1555-10T>C) | |
| 11 | g.68775443T>A | CA2792552769 | CPT1A | c.1459-11A>T (n.1459-11A>T) c.1555-11A>T (n.1555-11A>T) | |
| 11 | g.68775443T>C | CA939173655 | CPT1A | c.1459-11A>G (n.1459-11A>G) c.1555-11A>G (n.1555-11A>G) | dbSNP gnomAD v4 |
| 11 | g.68775445G>A | CA939173662 | CPT1A | c.1459-13C>T (n.1459-13C>T) c.1555-13C>T (n.1555-13C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68775445G>C | CA2574903172 | CPT1A | c.1459-13C>G (n.1459-13C>G) c.1555-13C>G (n.1555-13C>G) | gnomAD v4 |
| 11 | g.68775445G>T | CA2614734497 | CPT1A | c.1459-13C>A (n.1459-13C>A) c.1555-13C>A (n.1555-13C>A) | gnomAD v4 |
| 11 | g.68775446A>T | CA2614734499 | CPT1A | c.1459-14T>A (n.1459-14T>A) c.1555-14T>A (n.1555-14T>A) | gnomAD v4 |
| 11 | g.68775447_68775448insTTATTAAATT | CA6152296 | CPT1A | c.1459-16_1459-15insAATTTAATAA (n.1459-16_1459-15insAATTTAATAA) c.1555-16_1555-15insAATTTAATAA (n.1555-16_1555-15insAATTTAATAA) | dbSNP ExAC gnomAD v2 |
| 11 | g.68775448del | CA2614734504 | CPT1A | c.1459-16del (n.1459-16del) c.1555-16del (n.1555-16del) | gnomAD v4 |
| 11 | g.68775448C>A | CA2741183229 | CPT1A | c.1459-16G>T (n.1459-16G>T) c.1555-16G>T (n.1555-16G>T) | |
| 11 | g.68775448C>G | CA2614734507 | CPT1A | c.1459-16G>C (n.1459-16G>C) c.1555-16G>C (n.1555-16G>C) | gnomAD v4 |
| 11 | g.68775448C>T | CA2614734506 | CPT1A | c.1459-16G>A (n.1459-16G>A) c.1555-16G>A (n.1555-16G>A) | gnomAD v4 |
| 11 | g.68775448dup | CA2792552770 | CPT1A | c.1459-16dup (n.1459-16dup) c.1555-16dup (n.1555-16dup) | |
| 11 | g.68775448_68775449insT | CA6152297 | CPT1A | c.1459-17_1459-16insA (n.1459-17_1459-16insA) c.1555-17_1555-16insA (n.1555-17_1555-16insA) | dbSNP ExAC gnomAD v2 |
| 11 | g.68775449A>G | CA939173668 | CPT1A | c.1459-17T>C (n.1459-17T>C) c.1555-17T>C (n.1555-17T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68775449A>T | CA6152298 | CPT1A | c.1459-17T>A (n.1459-17T>A) c.1555-17T>A (n.1555-17T>A) | dbSNP ExAC gnomAD v2 |
| 11 | g.68775451_68775452insCACACCCAACAC | CA2792552771 | CPT1A | c.1459-20_1459-19insGTGTTGGGTGTG (n.1459-20_1459-19insGTGTTGGGTGTG) c.1555-20_1555-19insGTGTTGGGTGTG (n.1555-20_1555-19insGTGTTGGGTGTG) | |
| 11 | g.68775454T>C | CA6152299 | CPT1A | c.1459-22A>G (n.1459-22A>G) c.1555-22A>G (n.1555-22A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68775457T>A | CA2614734517 | CPT1A | c.1459-25A>T (n.1459-25A>T) c.1555-25A>T (n.1555-25A>T) | gnomAD v4 |
| 11 | g.68775457T>G | CA599988267 | CPT1A | c.1459-25A>C (n.1459-25A>C) c.1555-25A>C (n.1555-25A>C) | dbSNP gnomAD v2 gnomAD v4 |