Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68804078G>A | CA475205672 | CPT1A | c.477C>T (p.Gly159=) c.573C>T (p.Gly191=) | gnomAD v4 |
11 | g.68804078G>C | CA475205674 | CPT1A | c.477C>G (p.Gly159=) c.573C>G (p.Gly191=) | |
11 | g.68804078G>T | CA223393530 | CPT1A | c.477C>A (p.Gly159=) c.573C>A (p.Gly191=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68804079C>A | CA381636104 | CPT1A | c.476G>T (p.Gly159Val) c.572G>T (p.Gly191Val) | |
11 | g.68804079C>G | CA381636106 | CPT1A | c.476G>C (p.Gly159Ala) c.572G>C (p.Gly191Ala) | |
11 | g.68804079C>T | CA381636105 | CPT1A | c.476G>A (p.Gly159Asp) c.572G>A (p.Gly191Asp) | |
11 | g.68804080C>A | CA381636107 | CPT1A | c.475G>T (p.Gly159Cys) c.571G>T (p.Gly191Cys) | |
11 | g.68804080C>G | CA381636108 | CPT1A | c.475G>C (p.Gly159Arg) c.571G>C (p.Gly191Arg) | |
11 | g.68804080C>T | CA381636109 | CPT1A | c.475G>A (p.Gly159Ser) c.571G>A (p.Gly191Ser) | |
11 | g.68804081T>A | CA475205684 | CPT1A | c.474A>T (p.Ser158=) c.570A>T (p.Ser190=) | |
11 | g.68804081T>C | CA475205686 | CPT1A | c.474A>G (p.Ser158=) c.570A>G (p.Ser190=) | |
11 | g.68804081T>G | CA475205688 | CPT1A | c.474A>C (p.Ser158=) c.570A>C (p.Ser190=) | |
11 | g.68804082G>A | CA381636110 | CPT1A | c.473C>T (p.Ser158Leu) c.569C>T (p.Ser190Leu) | |
11 | g.68804082G>C | CA381636111 | CPT1A | c.473C>G (p.Ser158Ter) c.569C>G (p.Ser190Ter) | |
11 | g.68804082G>T | CA381636112 | CPT1A | c.473C>A (p.Ser158Ter) c.569C>A (p.Ser190Ter) | |
11 | g.68804083A>C | CA381636113 | CPT1A | c.472T>G (p.Ser158Ala) c.568T>G (p.Ser190Ala) | |
11 | g.68804083A>G | CA381636114 | CPT1A | c.472T>C (p.Ser158Pro) c.568T>C (p.Ser190Pro) | |
11 | g.68804083A>T | CA381636115 | CPT1A | c.472T>A (p.Ser158Thr) c.568T>A (p.Ser190Thr) | |
11 | g.68804084A>C | CA381636116 | CPT1A | c.471T>G (p.Phe157Leu) c.567T>G (p.Phe189Leu) | |
11 | g.68804084A>G | CA475205697 | CPT1A | c.471T>C (p.Phe157=) c.567T>C (p.Phe189=) | |
11 | g.68804084A>T | CA381636117 | CPT1A | c.471T>A (p.Phe157Leu) c.567T>A (p.Phe189Leu) | |
11 | g.68804085A>C | CA381636120 | CPT1A | c.470T>G (p.Phe157Cys) c.566T>G (p.Phe189Cys) | |
11 | g.68804085A>G | CA381636119 | CPT1A | c.470T>C (p.Phe157Ser) c.566T>C (p.Phe189Ser) | |
11 | g.68804085A>T | CA381636118 | CPT1A | c.470T>A (p.Phe157Tyr) c.566T>A (p.Phe189Tyr) | |
11 | g.68804086A>C | CA381636121 | CPT1A | c.469T>G (p.Phe157Val) c.565T>G (p.Phe189Val) | |
11 | g.68804086A>G | CA381636122 | CPT1A | c.469T>C (p.Phe157Leu) c.565T>C (p.Phe189Leu) | |
11 | g.68804086A>T | CA381636123 | CPT1A | c.469T>A (p.Phe157Ile) c.565T>A (p.Phe189Ile) | |
11 | g.68804087G>A | CA475205712 | CPT1A | c.468C>T (p.Ile156=) c.564C>T (p.Ile188=) | dbSNP COSMIC COSMIC |
11 | g.68804087G>C | CA381636124 | CPT1A | c.468C>G (p.Ile156Met) c.564C>G (p.Ile188Met) | |
11 | g.68804087G>T | CA475205722 | CPT1A | c.468C>A (p.Ile156=) c.564C>A (p.Ile188=) | |
11 | g.68804088A>C | CA381636125 | CPT1A | c.467T>G (p.Ile156Ser) c.563T>G (p.Ile188Ser) | |
11 | g.68804088A>G | CA381636126 | CPT1A | c.467T>C (p.Ile156Thr) c.563T>C (p.Ile188Thr) | |
11 | g.68804088A>T | CA6152649 | CPT1A | c.467T>A (p.Ile156Asn) c.563T>A (p.Ile188Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68804089T>A | CA381636127 | CPT1A | c.466A>T (p.Ile156Phe) c.562A>T (p.Ile188Phe) | |
11 | g.68804089T>C | CA6152650 | CPT1A | c.466A>G (p.Ile156Val) c.562A>G (p.Ile188Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68804089T>G | CA381636128 | CPT1A | c.466A>C (p.Ile156Leu) c.562A>C (p.Ile188Leu) | |
11 | g.68804090del | CA916083258 | CPT1A | c.465del (p.Ile156SerfsTer28) c.561del (p.Ile188SerfsTer28) | ClinVar dbSNP |
11 | g.68804090C>A | CA381636129 | CPT1A | c.465G>T (p.Lys155Asn) c.561G>T (p.Lys187Asn) | |
11 | g.68804090C>G | CA381636130 | CPT1A | c.465G>C (p.Lys155Asn) c.561G>C (p.Lys187Asn) | |
11 | g.68804090C>T | CA475205747 | CPT1A | c.465G>A (p.Lys155=) c.561G>A (p.Lys187=) | |
11 | g.68804091T>A | CA381636131 | CPT1A | c.464A>T (p.Lys155Met) c.560A>T (p.Lys187Met) | |
11 | g.68804091T>C | CA381636133 | CPT1A | c.464A>G (p.Lys155Arg) c.560A>G (p.Lys187Arg) | |
11 | g.68804091T>G | CA381636132 | CPT1A | c.464A>C (p.Lys155Thr) c.560A>C (p.Lys187Thr) | |
11 | g.68804092T>A | CA381636134 | CPT1A | c.463A>T (p.Lys155Ter) c.559A>T (p.Lys187Ter) | |
11 | g.68804092T>C | CA223393537 | CPT1A | c.463A>G (p.Lys155Glu) c.559A>G (p.Lys187Glu) | dbSNP gnomAD v4 |
11 | g.68804092T>G | CA381636135 | CPT1A | c.463A>C (p.Lys155Gln) c.559A>C (p.Lys187Gln) | |
11 | g.68804093G>A | CA475205755 | CPT1A | c.462C>T (p.Val154=) c.558C>T (p.Val186=) | |
11 | g.68804093G>C | CA475205757 | CPT1A | c.462C>G (p.Val154=) c.558C>G (p.Val186=) | |
11 | g.68804093G>T | CA475205759 | CPT1A | c.462C>A (p.Val154=) c.558C>A (p.Val186=) | gnomAD v4 |
11 | g.68804094A>C | CA381636136 | CPT1A | c.461T>G (p.Val154Gly) c.557T>G (p.Val186Gly) | |
11 | g.68804094A>G | CA381636138 | CPT1A | c.461T>C (p.Val154Ala) c.557T>C (p.Val186Ala) | |
11 | g.68804094A>T | CA381636137 | CPT1A | c.461T>A (p.Val154Asp) c.557T>A (p.Val186Asp) | |
11 | g.68804095C>A | CA381636139 | CPT1A | c.460G>T (p.Val154Phe) c.556G>T (p.Val186Phe) | gnomAD v4 |
11 | g.68804095C>G | CA381636140 | CPT1A | c.460G>C (p.Val154Leu) c.556G>C (p.Val186Leu) | gnomAD v4 |
11 | g.68804095C>T | CA381636141 | CPT1A | c.460G>A (p.Val154Ile) c.556G>A (p.Val186Ile) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68804096del | CA2574903446 | CPT1A | c.460del (p.Val154SerfsTer30) c.556del (p.Val186SerfsTer30) | gnomAD v4 |
11 | g.68804096C>A | CA381636142 | CPT1A | c.459G>T (p.Met153Ile) c.555G>T (p.Met185Ile) | |
11 | g.68804096C>G | CA381636143 | CPT1A | c.459G>C (p.Met153Ile) c.555G>C (p.Met185Ile) | |
11 | g.68804096C>T | CA381636144 | CPT1A | c.459G>A (p.Met153Ile) c.555G>A (p.Met185Ile) | ClinVar dbSNP gnomAD v4 |
11 | g.68804097A>C | CA381636145 | CPT1A | c.458T>G (p.Met153Arg) c.554T>G (p.Met185Arg) | |
11 | g.68804097A>G | CA6152651 | CPT1A | c.458T>C (p.Met153Thr) c.554T>C (p.Met185Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68804097A>T | CA381636146 | CPT1A | c.458T>A (p.Met153Lys) c.554T>A (p.Met185Lys) | |
11 | g.68804098T>A | CA381636147 | CPT1A | c.457A>T (p.Met153Leu) c.553A>T (p.Met185Leu) | |
11 | g.68804098T>C | CA6152652 | CPT1A | c.457A>G (p.Met153Val) c.553A>G (p.Met185Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68804098T>G | CA381636148 | CPT1A | c.457A>C (p.Met153Leu) c.553A>C (p.Met185Leu) | |
11 | g.68804099A>C | CA475205793 | CPT1A | c.456T>G (p.Gly152=) c.552T>G (p.Gly184=) | |
11 | g.68804099A>G | CA475205796 | CPT1A | c.456T>C (p.Gly152=) c.552T>C (p.Gly184=) | |
11 | g.68804099A>T | CA475205798 | CPT1A | c.456T>A (p.Gly152=) c.552T>A (p.Gly184=) | |
11 | g.68804100C>A | CA6152653 | CPT1A | c.455G>T (p.Gly152Val) c.551G>T (p.Gly184Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68804100C>G | CA381636149 | CPT1A | c.455G>C (p.Gly152Ala) c.551G>C (p.Gly184Ala) | |
11 | g.68804100C>T | CA381636150 | CPT1A | c.455G>A (p.Gly152Asp) c.551G>A (p.Gly184Asp) | gnomAD v4 |
11 | g.68804101C>A | CA381636151 | CPT1A | c.454G>T (p.Gly152Cys) c.550G>T (p.Gly184Cys) | gnomAD v4 |
11 | g.68804101C>G | CA381636152 | CPT1A | c.454G>C (p.Gly152Arg) c.550G>C (p.Gly184Arg) | |
11 | g.68804101C>T | CA381636153 | CPT1A | c.454G>A (p.Gly152Ser) c.550G>A (p.Gly184Ser) | ClinVar |
11 | g.68804102C>A | CA381636154 | CPT1A | c.454-1G>T (n.454-1G>T) c.550-1G>T (n.550-1G>T) | |
11 | g.68804102C>G | CA381636155 | CPT1A | c.454-1G>C (n.454-1G>C) c.550-1G>C (n.550-1G>C) | |
11 | g.68804102C>T | CA381636156 | CPT1A | c.454-1G>A (n.454-1G>A) c.550-1G>A (n.550-1G>A) | |
11 | g.68804103T>A | CA381636157 | CPT1A | c.454-2A>T (n.454-2A>T) c.550-2A>T (n.550-2A>T) | gnomAD v4 |
11 | g.68804103T>C | CA381636158 | CPT1A | c.454-2A>G (n.454-2A>G) c.550-2A>G (n.550-2A>G) | gnomAD v4 |
11 | g.68804103T>G | CA381636159 | CPT1A | c.454-2A>C (n.454-2A>C) c.550-2A>C (n.550-2A>C) | |
11 | g.68804104G>A | CA223393538 | CPT1A | c.454-3C>T (n.454-3C>T) c.550-3C>T (n.550-3C>T) | dbSNP |
11 | g.68804104_68804107del | CA645580011 | CPT1A | c.454-6_454-3del (n.454-6_454-3del) c.550-6_550-3del (n.550-6_550-3del) | COSMIC COSMIC |
11 | g.68804105A>G | CA599991995 | CPT1A | c.454-4T>C (n.454-4T>C) c.550-4T>C (n.550-4T>C) | dbSNP gnomAD v2 |
11 | g.68804105A>T | CA2792553640 | CPT1A | c.454-4T>A (n.454-4T>A) c.550-4T>A (n.550-4T>A) | |
11 | g.68804106A>G | CA2614741309 | CPT1A | c.454-5T>C (n.454-5T>C) c.550-5T>C (n.550-5T>C) | ClinVar gnomAD v4 |
11 | g.68804113_68804114del | CA6152654 | CPT1A | c.454-6_454-5del (n.454-6_454-5del) c.550-6_550-5del (n.550-6_550-5del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68804107G>A | CA2499221280 | CPT1A | c.454-6C>T (n.454-6C>T) c.550-6C>T (n.550-6C>T) | ClinVar dbSNP |
11 | g.68804107G>C | CA6152655 | CPT1A | c.454-6C>G (n.454-6C>G) c.550-6C>G (n.550-6C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68804107G>T | CA2499221281 | CPT1A | c.454-6C>A (n.454-6C>A) c.550-6C>A (n.550-6C>A) | ClinVar dbSNP |
11 | g.68804108A>G | CA6152656 | CPT1A | c.454-7T>C (n.454-7T>C) c.550-7T>C (n.550-7T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68804109G>A | CA2614741319 | CPT1A | c.454-8C>T (n.454-8C>T) c.550-8C>T (n.550-8C>T) | gnomAD v4 |
11 | g.68804109G>C | CA2614741323 | CPT1A | c.454-8C>G (n.454-8C>G) c.550-8C>G (n.550-8C>G) | dbSNP gnomAD v4 |
11 | g.68804109G>T | CA2614741325 | CPT1A | c.454-8C>A (n.454-8C>A) c.550-8C>A (n.550-8C>A) | gnomAD v4 |
11 | g.68804111G>A | CA6152658 | CPT1A | c.454-10C>T (n.454-10C>T) c.550-10C>T (n.550-10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68804111G>C | CA6152657 | CPT1A | c.454-10C>G (n.454-10C>G) c.550-10C>G (n.550-10C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68804113G>A | CA654348252 | CPT1A | c.454-12C>T (n.454-12C>T) c.550-12C>T (n.550-12C>T) | ClinVar COSMIC |
11 | g.68804113G>T | CA6152659 | CPT1A | c.454-12C>A (n.454-12C>A) c.550-12C>A (n.550-12C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68804115A>G | CA223393580 | CPT1A | c.454-14T>C (n.454-14T>C) c.550-14T>C (n.550-14T>C) | ClinVar dbSNP gnomAD v4 |
11 | g.68804117del | CA599992001 | CPT1A | c.454-15del (n.454-15del) c.550-15del (n.550-15del) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68804117T>G | CA6152660 | CPT1A | c.454-16A>C (n.454-16A>C) c.550-16A>C (n.550-16A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68804118A>G | CA2574903447 | CPT1A | c.454-17T>C (n.454-17T>C) c.550-17T>C (n.550-17T>C) | dbSNP |
11 | g.68804119T>C | CA2724578512 | CPT1A | c.454-18A>G (n.454-18A>G) c.550-18A>G (n.550-18A>G) | dbSNP |
11 | g.68804121T>C | CA2614741349 | CPT1A | c.454-20A>G (n.454-20A>G) c.550-20A>G (n.550-20A>G) | gnomAD v4 |
11 | g.68804122T>C | CA2574903448 | CPT1A | c.454-21A>G (n.454-21A>G) c.550-21A>G (n.550-21A>G) | |
11 | g.68804122T>G | CA6152661 | CPT1A | c.454-21A>C (n.454-21A>C) c.550-21A>C (n.550-21A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68804123T>A | CA2724578514 | CPT1A | c.454-22A>T (n.454-22A>T) c.550-22A>T (n.550-22A>T) | dbSNP |
11 | g.68804123T>C | CA2614741351 | CPT1A | c.454-22A>G (n.454-22A>G) c.550-22A>G (n.550-22A>G) | gnomAD v4 |
11 | g.68804125C>A | CA2614741353 | CPT1A | c.454-24G>T (n.454-24G>T) c.550-24G>T (n.550-24G>T) | gnomAD v4 |
11 | g.68804125C>T | CA2614741354 | CPT1A | c.454-24G>A (n.454-24G>A) c.550-24G>A (n.550-24G>A) | gnomAD v4 |
11 | g.68804126A>G | CA6152662 | CPT1A | c.454-25T>C (n.454-25T>C) c.550-25T>C (n.550-25T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68804127G>C | CA2614741360 | CPT1A | c.454-26C>G (n.454-26C>G) c.550-26C>G (n.550-26C>G) | gnomAD v4 |
11 | g.68804127G>T | CA2614741364 | CPT1A | c.454-26C>A (n.454-26C>A) c.550-26C>A (n.550-26C>A) | gnomAD v4 |
11 | g.68804132C>T | CA2574903449 | CPT1A | c.454-31G>A (n.454-31G>A) c.550-31G>A (n.550-31G>A) | gnomAD v4 |
11 | g.68804133del | CA2792553641 | CPT1A | c.454-32del (n.454-32del) c.550-32del (n.550-32del) | |
11 | g.68804133T>C | CA6152663 | CPT1A | c.454-32A>G (n.454-32A>G) c.550-32A>G (n.550-32A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68804134G>T | CA6152664 | CPT1A | c.454-33C>A (n.454-33C>A) c.550-33C>A (n.550-33C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68804135C>T | CA2792553642 | CPT1A | c.454-34G>A (n.454-34G>A) c.550-34G>A (n.550-34G>A) | |
11 | g.68804136del | CA2574903450 | CPT1A | c.454-34del (n.454-34del) c.550-34del (n.550-34del) | |
11 | g.68804139A>G | CA6152665 | CPT1A | c.454-38T>C (n.454-38T>C) c.550-38T>C (n.550-38T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68804140C>G | CA2724292217 | CPT1A | c.454-39G>C (n.454-39G>C) c.550-39G>C (n.550-39G>C) | dbSNP |
11 | g.68804141T>C | CA2574903451 | CPT1A | c.454-40A>G (n.454-40A>G) c.550-40A>G (n.550-40A>G) | dbSNP gnomAD v4 |
11 | g.68804142A>T | CA2614741379 | CPT1A | c.454-41T>A (n.454-41T>A) c.550-41T>A (n.550-41T>A) | gnomAD v4 |
11 | g.68804143C>A | CA2839042973 | CPT1A | c.454-42G>T (n.454-42G>T) c.550-42G>T (n.550-42G>T) | |
11 | g.68804143C>T | CA2564470749 | CPT1A | c.454-42G>A (n.454-42G>A) c.550-42G>A (n.550-42G>A) | dbSNP |
11 | g.68804144T>A | CA2614741382 | CPT1A | c.454-43A>T (n.454-43A>T) c.550-43A>T (n.550-43A>T) | gnomAD v4 |
11 | g.68804144T>C | CA2614741383 | CPT1A | c.454-43A>G (n.454-43A>G) c.550-43A>G (n.550-43A>G) | dbSNP gnomAD v4 |
11 | g.68804145C>A | CA599992005 | CPT1A | c.454-44G>T (n.454-44G>T) c.550-44G>T (n.550-44G>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68804146T>C | CA2614741386 | CPT1A | c.454-45A>G (n.454-45A>G) c.550-45A>G (n.550-45A>G) | gnomAD v4 |
11 | g.68804147G>A | CA679636694 | CPT1A | c.454-46C>T (n.454-46C>T) c.550-46C>T (n.550-46C>T) | dbSNP gnomAD v4 |
11 | g.68804148A>G | CA2614741391 | CPT1A | c.454-47T>C (n.454-47T>C) c.550-47T>C (n.550-47T>C) | gnomAD v4 |
11 | g.68804149A>C | CA679636695 | CPT1A | c.454-48T>G (n.454-48T>G) c.550-48T>G (n.550-48T>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68804149A>G | CA2792553643 | CPT1A | c.454-48T>C (n.454-48T>C) c.550-48T>C (n.550-48T>C) | |
11 | g.68804150G>A | CA6152666 | CPT1A | c.454-49C>T (n.454-49C>T) c.550-49C>T (n.550-49C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68804151G>A | CA2614741398 | CPT1A | c.454-50C>T (n.454-50C>T) c.550-50C>T (n.550-50C>T) | gnomAD v4 |
11 | g.68804151G>C | CA599992006 | CPT1A | c.454-50C>G (n.454-50C>G) c.550-50C>G (n.550-50C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68804152C>A | CA2614741401 | CPT1A | c.454-51G>T (n.454-51G>T) c.550-51G>T (n.550-51G>T) | gnomAD v4 |
11 | g.68804154C>A | CA2614741404 | CPT1A | c.454-53G>T (n.454-53G>T) c.550-53G>T (n.550-53G>T) | dbSNP gnomAD v4 |
11 | g.68804154C>T | CA2614741405 | CPT1A | c.454-53G>A (n.454-53G>A) c.550-53G>A (n.550-53G>A) | gnomAD v4 |
11 | g.68804157G>A | CA2614741406 | CPT1A | c.454-56C>T (n.454-56C>T) c.550-56C>T (n.550-56C>T) | gnomAD v4 |
11 | g.68804157G>T | CA2614741407 | CPT1A | c.454-56C>A (n.454-56C>A) c.550-56C>A (n.550-56C>A) | gnomAD v4 |
11 | g.68804158T>A | CA2614741408 | CPT1A | c.454-57A>T (n.454-57A>T) c.550-57A>T (n.550-57A>T) | gnomAD v4 |
11 | g.68804158T>C | CA2614741409 | CPT1A | c.454-57A>G (n.454-57A>G) c.550-57A>G (n.550-57A>G) | gnomAD v4 |
11 | g.68804160C>A | CA2614741410 | CPT1A | c.454-59G>T (n.454-59G>T) c.550-59G>T (n.550-59G>T) | gnomAD v4 |
11 | g.68804161T>C | CA2614741411 | CPT1A | c.454-60A>G (n.454-60A>G) c.550-60A>G (n.550-60A>G) | gnomAD v4 |
11 | g.68804161T>G | CA2574903452 | CPT1A | c.454-60A>C (n.454-60A>C) c.550-60A>C (n.550-60A>C) | gnomAD v4 |
11 | g.68804162C>A | CA2842790221 | CPT1A | c.454-61G>T (n.454-61G>T) c.550-61G>T (n.550-61G>T) | |
11 | g.68804162C>T | CA223393632 | CPT1A | c.454-61G>A (n.454-61G>A) c.550-61G>A (n.550-61G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68804163G>A | CA223393633 | CPT1A | c.454-62C>T (n.454-62C>T) c.550-62C>T (n.550-62C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68804163G>T | CA2614741412 | CPT1A | c.454-62C>A (n.454-62C>A) c.550-62C>A (n.550-62C>A) | gnomAD v4 |
11 | g.68804164T>A | CA2614741413 | CPT1A | c.454-63A>T (n.454-63A>T) c.550-63A>T (n.550-63A>T) | gnomAD v4 |
11 | g.68804165C>A | CA2574903453 | CPT1A | c.454-64G>T (n.454-64G>T) c.550-64G>T (n.550-64G>T) | |
11 | g.68804165C>G | CA2614741414 | CPT1A | c.454-64G>C (n.454-64G>C) c.550-64G>C (n.550-64G>C) | gnomAD v4 |
11 | g.68804166T>C | CA2842790222 | CPT1A | c.454-65A>G (n.454-65A>G) c.550-65A>G (n.550-65A>G) | |
11 | g.68804167G>T | CA2614741415 | CPT1A | c.454-66C>A (n.454-66C>A) c.550-66C>A (n.550-66C>A) | gnomAD v4 |
11 | g.68804169T>G | CA679636699 | CPT1A | c.454-68A>C (n.454-68A>C) c.550-68A>C (n.550-68A>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68804170C>T | CA223393641 | CPT1A | c.454-69G>A (n.454-69G>A) c.550-69G>A (n.550-69G>A) | dbSNP gnomAD v4 |
11 | g.68804171T>C | CA223393645 | CPT1A | c.454-70A>G (n.454-70A>G) c.550-70A>G (n.550-70A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68804172C>A | CA2614741416 | CPT1A | c.454-71G>T (n.454-71G>T) c.550-71G>T (n.550-71G>T) | gnomAD v4 |
11 | g.68804172C>T | CA223393646 | CPT1A | c.454-71G>A (n.454-71G>A) c.550-71G>A (n.550-71G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68804173G>A | CA2574903454 | CPT1A | c.454-72C>T (n.454-72C>T) c.550-72C>T (n.550-72C>T) | dbSNP gnomAD v4 |
11 | g.68804173G>T | CA2574903455 | CPT1A | c.454-72C>A (n.454-72C>A) c.550-72C>A (n.550-72C>A) | gnomAD v4 |
11 | g.68804175G>T | CA2574903456 | CPT1A | c.454-74C>A (n.454-74C>A) c.550-74C>A (n.550-74C>A) | gnomAD v4 |
11 | g.68804177A>G | CA2614741423 | CPT1A | c.454-76T>C (n.454-76T>C) c.550-76T>C (n.550-76T>C) | gnomAD v4 |
11 | g.68804178G>A | CA2614741424 | CPT1A | c.454-77C>T (n.454-77C>T) c.550-77C>T (n.550-77C>T) | gnomAD v4 |
11 | g.68804178G>T | CA2614741426 | CPT1A | c.454-77C>A (n.454-77C>A) c.550-77C>A (n.550-77C>A) | gnomAD v4 |