Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68812536C>A | CA381638111 | CPT1A | c.182G>T (p.Ser61Ile) c.278G>T (p.Ser93Ile) | |
11 | g.68812536C>G | CA381638112 | CPT1A | c.182G>C (p.Ser61Thr) c.278G>C (p.Ser93Thr) | |
11 | g.68812536C>T | CA381638113 | CPT1A | c.182G>A (p.Ser61Asn) c.278G>A (p.Ser93Asn) | |
11 | g.68812537T>A | CA381638114 | CPT1A | c.181A>T (p.Ser61Cys) c.277A>T (p.Ser93Cys) | |
11 | g.68812537T>C | CA381638116 | CPT1A | c.181A>G (p.Ser61Gly) c.277A>G (p.Ser93Gly) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68812537T>G | CA381638115 | CPT1A | c.181A>C (p.Ser61Arg) c.277A>C (p.Ser93Arg) | COSMIC COSMIC |
11 | g.68812538G>A | CA475207552 | CPT1A | c.180C>T (p.Ser60=) c.276C>T (p.Ser92=) | |
11 | g.68812538G>C | CA475207553 | CPT1A | c.180C>G (p.Ser60=) c.276C>G (p.Ser92=) | |
11 | g.68812538G>T | CA475207554 | CPT1A | c.180C>A (p.Ser60=) c.276C>A (p.Ser92=) | |
11 | g.68812539G>A | CA381638117 | CPT1A | c.179C>T (p.Ser60Phe) c.275C>T (p.Ser92Phe) | |
11 | g.68812539G>C | CA381638118 | CPT1A | c.179C>G (p.Ser60Cys) c.275C>G (p.Ser92Cys) | |
11 | g.68812539G>T | CA381638119 | CPT1A | c.179C>A (p.Ser60Tyr) c.275C>A (p.Ser92Tyr) | |
11 | g.68812540A>C | CA381638120 | CPT1A | c.178T>G (p.Ser60Ala) c.274T>G (p.Ser92Ala) | |
11 | g.68812540A>G | CA381638121 | CPT1A | c.178T>C (p.Ser60Pro) c.274T>C (p.Ser92Pro) | |
11 | g.68812540A>T | CA381638122 | CPT1A | c.178T>A (p.Ser60Thr) c.274T>A (p.Ser92Thr) | |
11 | g.68812541G>A | CA475207555 | CPT1A | c.177C>T (p.Pro59=) c.273C>T (p.Pro91=) | |
11 | g.68812541G>C | CA475207556 | CPT1A | c.177C>G (p.Pro59=) c.273C>G (p.Pro91=) | |
11 | g.68812541G>T | CA475207557 | CPT1A | c.177C>A (p.Pro59=) c.273C>A (p.Pro91=) | |
11 | g.68812542G>A | CA6152753 | CPT1A | c.176C>T (p.Pro59Leu) c.272C>T (p.Pro91Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68812542G>C | CA381638123 | CPT1A | c.176C>G (p.Pro59Arg) c.272C>G (p.Pro91Arg) | |
11 | g.68812542G>T | CA381638124 | CPT1A | c.176C>A (p.Pro59His) c.272C>A (p.Pro91His) | gnomAD v4 |
11 | g.68812543G>A | CA6152754 | CPT1A | c.175C>T (p.Pro59Ser) c.271C>T (p.Pro91Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68812543G>C | CA381638126 | CPT1A | c.175C>G (p.Pro59Ala) c.271C>G (p.Pro91Ala) | gnomAD v4 |
11 | g.68812543G>T | CA381638125 | CPT1A | c.175C>A (p.Pro59Thr) c.271C>A (p.Pro91Thr) | |
11 | g.68812544G>A | CA475207559 | CPT1A | c.174C>T (p.Ser58=) c.270C>T (p.Ser90=) | |
11 | g.68812544G>C | CA381638127 | CPT1A | c.174C>G (p.Ser58Arg) c.270C>G (p.Ser90Arg) | |
11 | g.68812544G>T | CA381638128 | CPT1A | c.174C>A (p.Ser58Arg) c.270C>A (p.Ser90Arg) | |
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 |