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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68812532C>A | CA381638101 | CPT1A | c.186G>T (p.Trp62Cys) c.282G>T (p.Trp94Cys) | gnomAD v4 |
| 11 | g.68812532C>G | CA381638102 | CPT1A | c.186G>C (p.Trp62Cys) c.282G>C (p.Trp94Cys) | |
| 11 | g.68812532C>T | CA16041544 | CPT1A | c.186G>A (p.Trp62Ter) c.282G>A (p.Trp94Ter) | ClinVar dbSNP |
| 11 | g.68812533C>A | CA381638103 | CPT1A | c.185G>T (p.Trp62Leu) c.281G>T (p.Trp94Leu) | |
| 11 | g.68812533C>G | CA381638104 | CPT1A | c.185G>C (p.Trp62Ser) c.281G>C (p.Trp94Ser) | |
| 11 | g.68812533C>T | CA381638105 | CPT1A | c.185G>A (p.Trp62Ter) c.281G>A (p.Trp94Ter) | |
| 11 | g.68812534A>C | CA381638106 | CPT1A | c.184T>G (p.Trp62Gly) c.280T>G (p.Trp94Gly) | |
| 11 | g.68812534A>G | CA381638107 | CPT1A | c.184T>C (p.Trp62Arg) c.280T>C (p.Trp94Arg) | |
| 11 | g.68812534A>T | CA381638108 | CPT1A | c.184T>A (p.Trp62Arg) c.280T>A (p.Trp94Arg) | |
| 11 | g.68812535A>C | CA381638109 | CPT1A | c.183T>G (p.Ser61Arg) c.279T>G (p.Ser93Arg) | |
| 11 | g.68812535A>G | CA475207551 | CPT1A | c.183T>C (p.Ser61=) c.279T>C (p.Ser93=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68812535A>T | CA381638110 | CPT1A | c.183T>A (p.Ser61Arg) c.279T>A (p.Ser93Arg) | |
| 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 |
| 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) | |
| 11 | g.68812561C>A | CA381638161 | CPT1A | c.157G>T (p.Gly53Cys) c.253G>T (p.Gly85Cys) | |
| 11 | g.68812561C>G | CA381638162 | CPT1A | c.157G>C (p.Gly53Arg) c.253G>C (p.Gly85Arg) | |
| 11 | g.68812561C>T | CA381638163 | CPT1A | c.157G>A (p.Gly53Ser) c.253G>A (p.Gly85Ser) | gnomAD v4 |
| 11 | g.68812562A>C | CA475207569 | CPT1A | c.156T>G (p.Thr52=) c.252T>G (p.Thr84=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68812562A>G | CA475207570 | CPT1A | c.156T>C (p.Thr52=) c.252T>C (p.Thr84=) | |
| 11 | g.68812562A>T | CA475207571 | CPT1A | c.156T>A (p.Thr52=) c.252T>A (p.Thr84=) | |
| 11 | g.68812563G>A | CA381638166 | CPT1A | c.155C>T (p.Thr52Ile) c.251C>T (p.Thr84Ile) | |
| 11 | g.68812563G>C | CA381638164 | CPT1A | c.155C>G (p.Thr52Ser) c.251C>G (p.Thr84Ser) | |
| 11 | g.68812563G>T | CA381638165 | CPT1A | c.155C>A (p.Thr52Asn) c.251C>A (p.Thr84Asn) | |
| 11 | g.68812564T>A | CA381638167 | CPT1A | c.154A>T (p.Thr52Ser) c.250A>T (p.Thr84Ser) | |
| 11 | g.68812564T>C | CA6152761 | CPT1A | c.154A>G (p.Thr52Ala) c.250A>G (p.Thr84Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812564T>G | CA381638168 | CPT1A | c.154A>C (p.Thr52Pro) c.250A>C (p.Thr84Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68812565G>A | CA475207572 | CPT1A | c.153C>T (p.Ile51=) c.249C>T (p.Ile83=) | ClinVar |
| 11 | g.68812565G>C | CA381638169 | CPT1A | c.153C>G (p.Ile51Met) c.249C>G (p.Ile83Met) | |
| 11 | g.68812565G>T | CA475207573 | CPT1A | c.153C>A (p.Ile51=) c.249C>A (p.Ile83=) | |
| 11 | g.68812565_68812566insT | CA2614738517 | CPT1A | c.152_153insA (p.Thr52HisfsTer?) c.248_249insA (p.Thr84HisfsTer?) | gnomAD v4 |
| 11 | g.68812565_68812566insTACACAC | CA599992831 | CPT1A | c.152_153insGTGTGTA (p.Ile51MetfsTer?) c.248_249insGTGTGTA (p.Ile83MetfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68812566A>C | CA381638170 | CPT1A | c.152T>G (p.Ile51Ser) c.248T>G (p.Ile83Ser) | |
| 11 | g.68812566A>G | CA381638171 | CPT1A | c.152T>C (p.Ile51Thr) c.248T>C (p.Ile83Thr) | gnomAD v4 |
| 11 | g.68812566A>T | CA381638172 | CPT1A | c.152T>A (p.Ile51Asn) c.248T>A (p.Ile83Asn) | |
| 11 | g.68812570_68812633del | CA2614738515 | CPT1A | c.142-53_152del c.238-53_248del | gnomAD v4 |
| 11 | g.68812566_68812567insGATTTCAACAAATCTCAGAAAACCTTGAATC | CA2614738518 | CPT1A | c.151_152insGATTCAAGGTTTTCTGAGATTTGTTGAAATC (p.Ile51ArgfsTer6) c.247_248insGATTCAAGGTTTTCTGAGATTTGTTGAAATC (p.Ile83ArgfsTer6) | gnomAD v4 |
| 11 | g.68812567T>A | CA381638173 | CPT1A | c.151A>T (p.Ile51Phe) c.247A>T (p.Ile83Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68812567T>C | CA381638174 | CPT1A | c.151A>G (p.Ile51Val) c.247A>G (p.Ile83Val) | dbSNP gnomAD v4 |
| 11 | g.68812567T>G | CA381638175 | CPT1A | c.151A>C (p.Ile51Leu) c.247A>C (p.Ile83Leu) | |
| 11 | g.68812567dup | CA2580084769 | CPT1A | c.151dup (p.Ile51AsnfsTer?) c.247dup (p.Ile83AsnfsTer?) | ClinVar |
| 11 | g.68812568G>A | CA475207574 | CPT1A | c.150C>T (p.Ile50=) c.246C>T (p.Ile82=) | |
| 11 | g.68812568G>C | CA381638176 | CPT1A | c.150C>G (p.Ile50Met) c.246C>G (p.Ile82Met) | |
| 11 | g.68812568G>T | CA475207575 | CPT1A | c.150C>A (p.Ile50=) c.246C>A (p.Ile82=) | |
| 11 | g.68812569A>C | CA381638178 | CPT1A | c.149T>G (p.Ile50Ser) c.245T>G (p.Ile82Ser) | |
| 11 | g.68812569A>G | CA381638179 | CPT1A | c.149T>C (p.Ile50Thr) c.245T>C (p.Ile82Thr) | COSMIC COSMIC |
| 11 | g.68812569A>T | CA381638177 | CPT1A | c.149T>A (p.Ile50Asn) c.245T>A (p.Ile82Asn) | |
| 11 | g.68812569_68812576del | CA599992832 | CPT1A | c.142_149del (p.Asn48HisfsTer?) c.238_245del (p.Asn80HisfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68812570T>A | CA381638180 | CPT1A | c.148A>T (p.Ile50Phe) c.244A>T (p.Ile82Phe) | dbSNP |
| 11 | g.68812570T>C | CA381638181 | CPT1A | c.148A>G (p.Ile50Val) c.244A>G (p.Ile82Val) | gnomAD v4 |
| 11 | g.68812570T>G | CA381638182 | CPT1A | c.148A>C (p.Ile50Leu) c.244A>C (p.Ile82Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812571G>A | CA475207577 | CPT1A | c.147C>T (p.Gly49=) c.243C>T (p.Gly81=) | dbSNP gnomAD v4 |
| 11 | g.68812571G>C | CA6152762 | CPT1A | c.147C>G (p.Gly49=) c.243C>G (p.Gly81=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812571G>T | CA6152763 | CPT1A | c.147C>A (p.Gly49=) c.243C>A (p.Gly81=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68812571_68812572insAA | CA2614738519 | CPT1A | c.146_147insTT (p.Ile50SerfsTer21) c.242_243insTT (p.Ile82SerfsTer21) | gnomAD v4 |
| 11 | g.68812572C>A | CA381638185 | CPT1A | c.146G>T (p.Gly49Val) c.242G>T (p.Gly81Val) | |
| 11 | g.68812572C>G | CA381638184 | CPT1A | c.146G>C (p.Gly49Ala) c.242G>C (p.Gly81Ala) | |
| 11 | g.68812572C>T | CA381638183 | CPT1A | c.146G>A (p.Gly49Asp) c.242G>A (p.Gly81Asp) | dbSNP gnomAD v2 |
| 11 | g.68812573C>A | CA381638186 | CPT1A | c.145G>T (p.Gly49Cys) c.241G>T (p.Gly81Cys) | |
| 11 | g.68812573C>G | CA381638187 | CPT1A | c.145G>C (p.Gly49Arg) c.241G>C (p.Gly81Arg) | |
| 11 | g.68812573C>T | CA6152764 | CPT1A | c.145G>A (p.Gly49Ser) c.241G>A (p.Gly81Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812573_68812574del | CA2614738521 | CPT1A | c.144_145del (p.Asn48LysfsTer?) c.240_241del (p.Asn80LysfsTer?) | gnomAD v4 |
| 11 | g.68812574G>A | CA6152765 | CPT1A | c.144C>T (p.Asn48=) c.240C>T (p.Asn80=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812574G>C | CA381638188 | CPT1A | c.144C>G (p.Asn48Lys) c.240C>G (p.Asn80Lys) | gnomAD v4 |
| 11 | g.68812574G>T | CA381638189 | CPT1A | c.144C>A (p.Asn48Lys) c.240C>A (p.Asn80Lys) | |
| 11 | g.68812575T>A | CA381638190 | CPT1A | c.143A>T (p.Asn48Ile) c.239A>T (p.Asn80Ile) | |
| 11 | g.68812575T>C | CA381638192 | CPT1A | c.143A>G (p.Asn48Ser) c.239A>G (p.Asn80Ser) | dbSNP gnomAD v4 |
| 11 | g.68812575T>G | CA381638191 | CPT1A | c.143A>C (p.Asn48Thr) c.239A>C (p.Asn80Thr) | |
| 11 | g.68812576T>A | CA381638193 | CPT1A | c.142A>T (p.Asn48Tyr) c.238A>T (p.Asn80Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68812576T>C | CA381638194 | CPT1A | c.142A>G (p.Asn48Asp) c.238A>G (p.Asn80Asp) | dbSNP |
| 11 | g.68812576T>G | CA381638195 | CPT1A | c.142A>C (p.Asn48His) c.238A>C (p.Asn80His) | |
| 11 | g.68812577C>A | CA381638196 | CPT1A | c.142-1G>T (n.142-1G>T) c.238-1G>T (n.238-1G>T) | |
| 11 | g.68812577C>G | CA381638197 | CPT1A | c.142-1G>C (n.142-1G>C) c.238-1G>C (n.238-1G>C) | |
| 11 | g.68812577C>T | CA381638198 | CPT1A | c.142-1G>A (n.142-1G>A) c.238-1G>A (n.238-1G>A) | |
| 11 | g.68812578T>A | CA381638199 | CPT1A | c.142-2A>T (n.142-2A>T) c.238-2A>T (n.238-2A>T) | |
| 11 | g.68812578T>C | CA381638200 | CPT1A | c.142-2A>G (n.142-2A>G) c.238-2A>G (n.238-2A>G) | |
| 11 | g.68812578T>G | CA381638201 | CPT1A | c.142-2A>C (n.142-2A>C) c.238-2A>C (n.238-2A>C) | |
| 11 | g.68812579A>G | CA599992833 | CPT1A | c.142-3T>C (n.142-3T>C) c.238-3T>C (n.238-3T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68812580A>C | CA2574903520 | CPT1A | c.142-4T>G (n.142-4T>G) c.238-4T>G (n.238-4T>G) | |
| 11 | g.68812582G>A | CA2574903521 | CPT1A | c.142-6C>T (n.142-6C>T) c.238-6C>T (n.238-6C>T) | |
| 11 | g.68812584C>T | CA2724296260 | CPT1A | c.142-8G>A (n.142-8G>A) c.238-8G>A (n.238-8G>A) | dbSNP |
| 11 | g.68812586G>A | CA2740093095 | CPT1A | c.142-10C>T (n.142-10C>T) c.238-10C>T (n.238-10C>T) | ClinVar |
| 11 | g.68812588C>T | CA6152766 | CPT1A | c.142-12G>A (n.142-12G>A) c.238-12G>A (n.238-12G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68812589del | CA599992834 | CPT1A | c.142-13del (n.142-13del) c.238-13del (n.238-13del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812589A>C | CA2614738545 | CPT1A | c.142-13T>G (n.142-13T>G) c.238-13T>G (n.238-13T>G) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68812589A>G | CA223400425 | CPT1A | c.142-13T>C (n.142-13T>C) c.238-13T>C (n.238-13T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812589A>T | CA2574903522 | CPT1A | c.142-13T>A (n.142-13T>A) c.238-13T>A (n.238-13T>A) | gnomAD v4 |
| 11 | g.68812590C>A | CA6152768 | CPT1A | c.142-14G>T (n.142-14G>T) c.238-14G>T (n.238-14G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68812590C>T | CA6152767 | CPT1A | c.142-14G>A (n.142-14G>A) c.238-14G>A (n.238-14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68812591C>G | CA2614738549 | CPT1A | c.142-15G>C (n.142-15G>C) c.238-15G>C (n.238-15G>C) | ClinVar gnomAD v4 |
| 11 | g.68812592C>A | CA599992835 | CPT1A | c.142-16G>T (n.142-16G>T) c.238-16G>T (n.238-16G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68812592C>T | CA6152769 | CPT1A | c.142-16G>A (n.142-16G>A) c.238-16G>A (n.238-16G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812593G>A | CA6152771 | CPT1A | c.142-17C>T (n.142-17C>T) c.238-17C>T (n.238-17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68812593G>C | CA6152770 | CPT1A | c.142-17C>G (n.142-17C>G) c.238-17C>G (n.238-17C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812594G>A | CA2697548781 | CPT1A | c.142-18C>T (n.142-18C>T) c.238-18C>T (n.238-18C>T) | ClinVar |
| 11 | g.68812594G>T | CA2566836279 | CPT1A | c.142-18C>A (n.142-18C>A) c.238-18C>A (n.238-18C>A) | |
| 11 | g.68812595G>A | CA2614738562 | CPT1A | c.142-19C>T (n.142-19C>T) c.238-19C>T (n.238-19C>T) | dbSNP gnomAD v4 |
| 11 | g.68812596C>A | CA2739270633 | CPT1A | c.142-20G>T (n.142-20G>T) c.238-20G>T (n.238-20G>T) | ClinVar |
| 11 | g.68812596C>G | CA2724563779 | CPT1A | c.142-20G>C (n.142-20G>C) c.238-20G>C (n.238-20G>C) | dbSNP |
| 11 | g.68812598_68812610del | CA2614738564 | CPT1A | c.142-32_142-20del (n.142-32_142-20del) c.238-32_238-20del (n.238-32_238-20del) | gnomAD v4 |
| 11 | g.68812597C>T | CA6152772 | CPT1A | c.142-21G>A (n.142-21G>A) c.238-21G>A (n.238-21G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812598G>A | CA6152773 | CPT1A | c.142-22C>T (n.142-22C>T) c.238-22C>T (n.238-22C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68812598G>T | CA2574903523 | CPT1A | c.142-22C>A (n.142-22C>A) c.238-22C>A (n.238-22C>A) | |
| 11 | g.68812600G>A | CA599992836 | CPT1A | c.142-24C>T (n.142-24C>T) c.238-24C>T (n.238-24C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68812603C>T | CA6152774 | CPT1A | c.142-27G>A (n.142-27G>A) c.238-27G>A (n.238-27G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812604G>A | CA599992837 | CPT1A | c.142-28C>T (n.142-28C>T) c.238-28C>T (n.238-28C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812604G>T | CA6152775 | CPT1A | c.142-28C>A (n.142-28C>A) c.238-28C>A (n.238-28C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812606T>C | CA2614738573 | CPT1A | c.142-30A>G (n.142-30A>G) c.238-30A>G (n.238-30A>G) | gnomAD v4 |
| 11 | g.68812606T>G | CA2614738575 | CPT1A | c.142-30A>C (n.142-30A>C) c.238-30A>C (n.238-30A>C) | dbSNP gnomAD v4 |
| 11 | g.68812607G>A | CA679638769 | CPT1A | c.142-31C>T (n.142-31C>T) c.238-31C>T (n.238-31C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68812608T>A | CA679638770 | CPT1A | c.142-32A>T (n.142-32A>T) c.238-32A>T (n.238-32A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68812610C>T | CA2614738576 | CPT1A | c.142-34G>A (n.142-34G>A) c.238-34G>A (n.238-34G>A) | gnomAD v4 |
| 11 | g.68812611T>C | CA2741183876 | CPT1A | c.142-35A>G (n.142-35A>G) c.238-35A>G (n.238-35A>G) | |
| 11 | g.68812612C>T | CA2614738580 | CPT1A | c.142-36G>A (n.142-36G>A) c.238-36G>A (n.238-36G>A) | gnomAD v4 |
| 11 | g.68812614del | CA6152776 | CPT1A | c.142-36del (n.142-36del) c.238-36del (n.238-36del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812613C>A | CA2614738582 | CPT1A | c.142-37G>T (n.142-37G>T) c.238-37G>T (n.238-37G>T) | gnomAD v4 |
| 11 | g.68812613_68812614delinsG | CA223400549 | CPT1A | c.142-38_142-37delinsC (n.142-38_142-37delinsC) c.238-38_238-37delinsC (n.238-38_238-37delinsC) | dbSNP |
| 11 | g.68812614C>A | CA2574903524 | CPT1A | c.142-38G>T (n.142-38G>T) c.238-38G>T (n.238-38G>T) | |
| 11 | g.68812614C>G | CA6152777 | CPT1A | c.142-38G>C (n.142-38G>C) c.238-38G>C (n.238-38G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812614C>T | CA679638773 | CPT1A | c.142-38G>A (n.142-38G>A) c.238-38G>A (n.238-38G>A) | dbSNP |
| 11 | g.68812615A>G | CA2614738588 | CPT1A | c.142-39T>C (n.142-39T>C) c.238-39T>C (n.238-39T>C) | gnomAD v4 |
| 11 | g.68812616C>T | CA2614738589 | CPT1A | c.142-40G>A (n.142-40G>A) c.238-40G>A (n.238-40G>A) | gnomAD v4 |
| 11 | g.68812618A>G | CA599992838 | CPT1A | c.142-42T>C (n.142-42T>C) c.238-42T>C (n.238-42T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68812619C>A | CA2614738593 | CPT1A | c.142-43G>T (n.142-43G>T) c.238-43G>T (n.238-43G>T) | gnomAD v4 |
| 11 | g.68812619C>T | CA223400577 | CPT1A | c.142-43G>A (n.142-43G>A) c.238-43G>A (n.238-43G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812620C>A | CA2614738596 | CPT1A | c.142-44G>T (n.142-44G>T) c.238-44G>T (n.238-44G>T) | gnomAD v4 |
| 11 | g.68812621C>A | CA2842790271 | CPT1A | c.142-45G>T (n.142-45G>T) c.238-45G>T (n.238-45G>T) | |
| 11 | g.68812621C>T | CA679638775 | CPT1A | c.142-45G>A (n.142-45G>A) c.238-45G>A (n.238-45G>A) | dbSNP |
| 11 | g.68812622A>C | CA2574903525 | CPT1A | c.142-46T>G (n.142-46T>G) c.238-46T>G (n.238-46T>G) | dbSNP |
| 11 | g.68812623C>T | CA6152778 | CPT1A | c.142-47G>A (n.142-47G>A) c.238-47G>A (n.238-47G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68812624A>G | CA2574903526 | CPT1A | c.142-48T>C (n.142-48T>C) c.238-48T>C (n.238-48T>C) | gnomAD v4 |
| 11 | g.68812625G>A | CA599992839 | CPT1A | c.142-49C>T (n.142-49C>T) c.238-49C>T (n.238-49C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812626G>A | CA6152779 | CPT1A | c.142-50C>T (n.142-50C>T) c.238-50C>T (n.238-50C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68812627G>A | CA599992840 | CPT1A | c.142-51C>T (n.142-51C>T) c.238-51C>T (n.238-51C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68812627G>T | CA2614738604 | CPT1A | c.142-51C>A (n.142-51C>A) c.238-51C>A (n.238-51C>A) | gnomAD v4 |
| 11 | g.68812628C>A | CA2614738606 | CPT1A | c.142-52G>T (n.142-52G>T) c.238-52G>T (n.238-52G>T) | gnomAD v4 |
| 11 | g.68812629A>C | CA2574903527 | CPT1A | c.142-53T>G (n.142-53T>G) c.238-53T>G (n.238-53T>G) | gnomAD v4 |
| 11 | g.68812630A>G | CA2614738609 | CPT1A | c.142-54T>C (n.142-54T>C) c.238-54T>C (n.238-54T>C) | gnomAD v4 |
| 11 | g.68812631T>C | CA223400598 | CPT1A | c.142-55A>G (n.142-55A>G) c.238-55A>G (n.238-55A>G) | dbSNP gnomAD v3 gnomAD v4 |