Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |