Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68760296G>A | CA6152102 | CPT1A | c.2071C>T (p.Gln691Ter) c.2167C>T (p.Gln723Ter) | ClinVar dbSNP ExAC gnomAD v4 |
11 | g.68760296G>C | CA381625901 | CPT1A | c.2071C>G (p.Gln691Glu) c.2167C>G (p.Gln723Glu) | gnomAD v4 |
11 | g.68760296G>T | CA381625902 | CPT1A | c.2071C>A (p.Gln691Lys) c.2167C>A (p.Gln723Lys) | |
11 | g.68760297A>C | CA475181795 | CPT1A | c.2070T>G (p.Pro690=) c.2166T>G (p.Pro722=) | |
11 | g.68760297A>G | CA475181797 | CPT1A | c.2070T>C (p.Pro690=) c.2166T>C (p.Pro722=) | |
11 | g.68760297A>T | CA475181796 | CPT1A | c.2070T>A (p.Pro690=) c.2166T>A (p.Pro722=) | |
11 | g.68760298G>A | CA381626108 | CPT1A | c.2069C>T (p.Pro690Leu) c.2165C>T (p.Pro722Leu) | |
11 | g.68760298G>C | CA381626109 | CPT1A | c.2069C>G (p.Pro690Arg) c.2165C>G (p.Pro722Arg) | |
11 | g.68760298G>T | CA381626110 | CPT1A | c.2069C>A (p.Pro690His) c.2165C>A (p.Pro722His) | |
11 | g.68760299G>A | CA381626112 | CPT1A | c.2068C>T (p.Pro690Ser) c.2164C>T (p.Pro722Ser) | |
11 | g.68760299G>C | CA381626113 | CPT1A | c.2068C>G (p.Pro690Ala) c.2164C>G (p.Pro722Ala) | |
11 | g.68760299G>T | CA381626111 | CPT1A | c.2068C>A (p.Pro690Thr) c.2164C>A (p.Pro722Thr) | |
11 | g.68760300G>A | CA6152103 | CPT1A | c.2067C>T (p.Thr689=) c.2163C>T (p.Thr721=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68760300G>C | CA475181834 | CPT1A | c.2067C>G (p.Thr689=) c.2163C>G (p.Thr721=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
11 | g.68760300G>T | CA475181835 | CPT1A | c.2067C>A (p.Thr689=) c.2163C>A (p.Thr721=) | dbSNP gnomAD v2 |
11 | g.68760301G>A | CA381626114 | CPT1A | c.2066C>T (p.Thr689Ile) c.2162C>T (p.Thr721Ile) | |
11 | g.68760301G>C | CA381626115 | CPT1A | c.2066C>G (p.Thr689Ser) c.2162C>G (p.Thr721Ser) | |
11 | g.68760301G>T | CA381626116 | CPT1A | c.2066C>A (p.Thr689Asn) c.2162C>A (p.Thr721Asn) | gnomAD v4 |
11 | g.68760302T>A | CA381626117 | CPT1A | c.2065A>T (p.Thr689Ser) c.2161A>T (p.Thr721Ser) | |
11 | g.68760302T>C | CA381626118 | CPT1A | c.2065A>G (p.Thr689Ala) c.2161A>G (p.Thr721Ala) | dbSNP |
11 | g.68760302T>G | CA381626119 | CPT1A | c.2065A>C (p.Thr689Pro) c.2161A>C (p.Thr721Pro) | |
11 | g.68760303C>A | CA381626120 | CPT1A | c.2064G>T (p.Gln688His) c.2160G>T (p.Gln720His) | |
11 | g.68760303C>G | CA381626121 | CPT1A | c.2064G>C (p.Gln688His) c.2160G>C (p.Gln720His) | gnomAD v4 |
11 | g.68760303C>T | CA475181839 | CPT1A | c.2064G>A (p.Gln688=) c.2160G>A (p.Gln720=) | |
11 | g.68760304T>A | CA381626122 | CPT1A | c.2063A>T (p.Gln688Leu) c.2159A>T (p.Gln720Leu) | |
11 | g.68760304T>C | CA381626123 | CPT1A | c.2063A>G (p.Gln688Arg) c.2159A>G (p.Gln720Arg) | |
11 | g.68760304T>G | CA381626124 | CPT1A | c.2063A>C (p.Gln688Pro) c.2159A>C (p.Gln720Pro) | |
11 | g.68760305G>A | CA381626126 | CPT1A | c.2062C>T (p.Gln688Ter) c.2158C>T (p.Gln720Ter) | ClinVar gnomAD v4 |
11 | g.68760305G>C | CA381626127 | CPT1A | c.2062C>G (p.Gln688Glu) c.2158C>G (p.Gln720Glu) | |
11 | g.68760305G>T | CA381626125 | CPT1A | c.2062C>A (p.Gln688Lys) c.2158C>A (p.Gln720Lys) | |
11 | g.68760306G>A | CA475181840 | CPT1A | c.2061C>T (p.Ser687=) c.2157C>T (p.Ser719=) | ClinVar dbSNP |
11 | g.68760306G>C | CA381626128 | CPT1A | c.2061C>G (p.Ser687Arg) c.2157C>G (p.Ser719Arg) | ClinVar dbSNP gnomAD v4 |
11 | g.68760306G>T | CA381626129 | CPT1A | c.2061C>A (p.Ser687Arg) c.2157C>A (p.Ser719Arg) | |
11 | g.68760307C>A | CA381626130 | CPT1A | c.2060G>T (p.Ser687Ile) c.2156G>T (p.Ser719Ile) | |
11 | g.68760307C>G | CA381626131 | CPT1A | c.2060G>C (p.Ser687Thr) c.2156G>C (p.Ser719Thr) | |
11 | g.68760307C>T | CA381626132 | CPT1A | c.2060G>A (p.Ser687Asn) c.2156G>A (p.Ser719Asn) | |
11 | g.68760308T>A | CA381626135 | CPT1A | c.2059A>T (p.Ser687Cys) c.2155A>T (p.Ser719Cys) | dbSNP gnomAD v4 |
11 | g.68760308T>C | CA381626133 | CPT1A | c.2059A>G (p.Ser687Gly) c.2155A>G (p.Ser719Gly) | |
11 | g.68760308T>G | CA381626134 | CPT1A | c.2059A>C (p.Ser687Arg) c.2155A>C (p.Ser719Arg) | |
11 | g.68760309T>A | CA475181841 | CPT1A | c.2058A>T (p.Thr686=) c.2154A>T (p.Thr718=) | |
11 | g.68760309T>C | CA475181842 | CPT1A | c.2058A>G (p.Thr686=) c.2154A>G (p.Thr718=) | dbSNP |
11 | g.68760309T>G | CA475181843 | CPT1A | c.2058A>C (p.Thr686=) c.2154A>C (p.Thr718=) | |
11 | g.68760310G>A | CA381626136 | CPT1A | c.2057C>T (p.Thr686Ile) c.2153C>T (p.Thr718Ile) | COSMIC COSMIC |
11 | g.68760310G>C | CA381626137 | CPT1A | c.2057C>G (p.Thr686Arg) c.2153C>G (p.Thr718Arg) | |
11 | g.68760310G>T | CA381626138 | CPT1A | c.2057C>A (p.Thr686Lys) c.2153C>A (p.Thr718Lys) | |
11 | g.68760311T>A | CA381626139 | CPT1A | c.2056A>T (p.Thr686Ser) c.2152A>T (p.Thr718Ser) | |
11 | g.68760311T>C | CA381626140 | CPT1A | c.2056A>G (p.Thr686Ala) c.2152A>G (p.Thr718Ala) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68760311T>G | CA381626141 | CPT1A | c.2056A>C (p.Thr686Pro) c.2152A>C (p.Thr718Pro) | |
11 | g.68760312dup | CA2574903074 | CPT1A | c.2056dup (p.Thr686AsnfsTer13) c.2152dup (p.Thr718AsnfsTer13) | |
11 | g.68760312T>A | CA475181845 | CPT1A | c.2055A>T (p.Ser685=) c.2151A>T (p.Ser717=) |