Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68812545C>A | CA381638129 | CPT1A | c.173G>T (p.Ser58Ile) c.269G>T (p.Ser90Ile) | |
11 | g.68812545C>G | CA381638130 | CPT1A | c.173G>C (p.Ser58Thr) c.269G>C (p.Ser90Thr) | |
11 | g.68812545C>T | CA381638131 | CPT1A | c.173G>A (p.Ser58Asn) c.269G>A (p.Ser90Asn) | |
11 | g.68812546T>A | CA381638132 | CPT1A | c.172A>T (p.Ser58Cys) c.268A>T (p.Ser90Cys) | |
11 | g.68812546T>C | CA6152755 | CPT1A | c.172A>G (p.Ser58Gly) c.268A>G (p.Ser90Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68812546T>G | CA381638133 | CPT1A | c.172A>C (p.Ser58Arg) c.268A>C (p.Ser90Arg) | |
11 | g.68812547T>A | CA475207560 | CPT1A | c.171A>T (p.Ala57=) c.267A>T (p.Ala89=) | |
11 | g.68812547T>C | CA6152756 | CPT1A | c.171A>G (p.Ala57=) c.267A>G (p.Ala89=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68812547T>G | CA475207562 | CPT1A | c.171A>C (p.Ala57=) c.267A>C (p.Ala89=) | |
11 | g.68812548G>A | CA381638134 | CPT1A | c.170C>T (p.Ala57Val) c.266C>T (p.Ala89Val) | |
11 | g.68812548G>C | CA381638135 | CPT1A | c.170C>G (p.Ala57Gly) c.266C>G (p.Ala89Gly) | |
11 | g.68812548G>T | CA381638136 | CPT1A | c.170C>A (p.Ala57Glu) c.266C>A (p.Ala89Glu) | |
11 | g.68812549C>A | CA381638139 | CPT1A | c.169G>T (p.Ala57Ser) c.265G>T (p.Ala89Ser) | |
11 | g.68812549C>G | CA381638137 | CPT1A | c.169G>C (p.Ala57Pro) c.265G>C (p.Ala89Pro) | |
11 | g.68812549C>T | CA381638138 | CPT1A | c.169G>A (p.Ala57Thr) c.265G>A (p.Ala89Thr) | |
11 | g.68812550C>A | CA475207563 | CPT1A | c.168G>T (p.Pro56=) c.264G>T (p.Pro88=) | ClinVar |
11 | g.68812550C>G | CA475207564 | CPT1A | c.168G>C (p.Pro56=) c.264G>C (p.Pro88=) | ClinVar |
11 | g.68812550C>T | CA6152757 | CPT1A | c.168G>A (p.Pro56=) c.264G>A (p.Pro88=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68812558_68812559insTGCGGGTACAC | CA2497319870 | CPT1A | c.168_169insCAGTGTACCCG (p.Ala57GlnfsTer17) c.264_265insCAGTGTACCCG (p.Ala89GlnfsTer17) | dbSNP |
11 | g.68812551G>A | CA381638140 | CPT1A | c.167C>T (p.Pro56Leu) c.263C>T (p.Pro88Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68812551G>C | CA381638141 | CPT1A | c.167C>G (p.Pro56Arg) c.263C>G (p.Pro88Arg) | |
11 | g.68812551G>T | CA381638142 | CPT1A | c.167C>A (p.Pro56Gln) c.263C>A (p.Pro88Gln) | |
11 | g.68812552G>A | CA381638143 | CPT1A | c.166C>T (p.Pro56Ser) c.262C>T (p.Pro88Ser) | COSMIC COSMIC |
11 | g.68812552G>C | CA381638144 | CPT1A | c.166C>G (p.Pro56Ala) c.262C>G (p.Pro88Ala) | |
11 | g.68812552G>T | CA381638145 | CPT1A | c.166C>A (p.Pro56Thr) c.262C>A (p.Pro88Thr) | |
11 | g.68812553G>A | CA223400336 | CPT1A | c.165C>T (p.Tyr55=) c.261C>T (p.Tyr87=) | ClinVar dbSNP |
11 | g.68812553G>C | CA381638146 | CPT1A | c.165C>G (p.Tyr55Ter) c.261C>G (p.Tyr87Ter) | |
11 | g.68812553G>T | CA381638147 | CPT1A | c.165C>A (p.Tyr55Ter) c.261C>A (p.Tyr87Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.68812554T>A | CA381638148 | CPT1A | c.164A>T (p.Tyr55Phe) c.260A>T (p.Tyr87Phe) | |
11 | g.68812554T>C | CA381638149 | CPT1A | c.164A>G (p.Tyr55Cys) c.260A>G (p.Tyr87Cys) | |
11 | g.68812554T>G | CA381638150 | CPT1A | c.164A>C (p.Tyr55Ser) c.260A>C (p.Tyr87Ser) | dbSNP |
11 | g.68812555A>C | CA381638152 | CPT1A | c.163T>G (p.Tyr55Asp) c.259T>G (p.Tyr87Asp) | |
11 | g.68812555A>G | CA381638153 | CPT1A | c.163T>C (p.Tyr55His) c.259T>C (p.Tyr87His) | ClinVar |
11 | g.68812555A>T | CA381638151 | CPT1A | c.163T>A (p.Tyr55Asn) c.259T>A (p.Tyr87Asn) | |
11 | g.68812556C>A | CA475207565 | CPT1A | c.162G>T (p.Val54=) c.258G>T (p.Val86=) | |
11 | g.68812556C>G | CA475207566 | CPT1A | c.162G>C (p.Val54=) c.258G>C (p.Val86=) | |
11 | g.68812556C>T | CA475207567 | CPT1A | c.162G>A (p.Val54=) c.258G>A (p.Val86=) | |
11 | g.68812557A>C | CA381638156 | CPT1A | c.161T>G (p.Val54Gly) c.257T>G (p.Val86Gly) | dbSNP gnomAD v4 |
11 | g.68812557A>G | CA381638154 | CPT1A | c.161T>C (p.Val54Ala) c.257T>C (p.Val86Ala) | |
11 | g.68812557A>T | CA381638155 | CPT1A | c.161T>A (p.Val54Glu) c.257T>A (p.Val86Glu) | |
11 | g.68812558C>A | CA6152758 | CPT1A | c.160G>T (p.Val54Leu) c.256G>T (p.Val86Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68812558C= | CA2581028876 | CPT1A | c.160G= (p.Val54=) c.256G= (p.Val86=) | |
11 | g.68812558C>G | CA381638157 | CPT1A | c.160G>C (p.Val54Leu) c.256G>C (p.Val86Leu) | dbSNP gnomAD v4 |
11 | g.68812558C>T | CA6152759 | CPT1A | c.160G>A (p.Val54Met) c.256G>A (p.Val86Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68812559G>A | CA6152760 | CPT1A | c.159C>T (p.Gly53=) c.255C>T (p.Gly85=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68812559G>C | CA475207568 | CPT1A | c.159C>G (p.Gly53=) c.255C>G (p.Gly85=) | |
11 | g.68812559G>T | CA223400351 | CPT1A | c.159C>A (p.Gly53=) c.255C>A (p.Gly85=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.68812560C>A | CA381638158 | CPT1A | c.158G>T (p.Gly53Val) c.254G>T (p.Gly85Val) | |
11 | g.68812560C>G | CA381638159 | CPT1A | c.158G>C (p.Gly53Ala) c.254G>C (p.Gly85Ala) | |
11 | g.68812560C>T | CA381638160 | CPT1A | c.158G>A (p.Gly53Asp) c.254G>A (p.Gly85Asp) |