| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68781704A>G | CA2614734955 | CPT1A | c.1352+67T>C (n.1352+67T>C) c.1448+67T>C (n.1448+67T>C) | gnomAD v4 |
| 11 | g.68781704A>T | CA2574903230 | CPT1A | c.1352+67T>A (n.1352+67T>A) c.1448+67T>A (n.1448+67T>A) | gnomAD v4 |
| 11 | g.68781705G>T | CA2614734956 | CPT1A | c.1352+66C>A (n.1352+66C>A) c.1448+66C>A (n.1448+66C>A) | gnomAD v4 |
| 11 | g.68781706G>T | CA2574903231 | CPT1A | c.1352+65C>A (n.1352+65C>A) c.1448+65C>A (n.1448+65C>A) | gnomAD v4 |
| 11 | g.68781707C>T | CA223374195 | CPT1A | c.1352+64G>A (n.1352+64G>A) c.1448+64G>A (n.1448+64G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781708A>C | CA2574903232 | CPT1A | c.1352+63T>G (n.1352+63T>G) c.1448+63T>G (n.1448+63T>G) | |
| 11 | g.68781709C>T | CA2614734957 | CPT1A | c.1352+62G>A (n.1352+62G>A) c.1448+62G>A (n.1448+62G>A) | gnomAD v4 |
| 11 | g.68781711C>G | CA223374196 | CPT1A | c.1352+60G>C (n.1352+60G>C) c.1448+60G>C (n.1448+60G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781711C>T | CA2574903233 | CPT1A | c.1352+60G>A (n.1352+60G>A) c.1448+60G>A (n.1448+60G>A) | dbSNP gnomAD v4 |
| 11 | g.68781712A>G | CA2614734958 | CPT1A | c.1352+59T>C (n.1352+59T>C) c.1448+59T>C (n.1448+59T>C) | gnomAD v4 |
| 11 | g.68781713G>A | CA223374199 | CPT1A | c.1352+58C>T (n.1352+58C>T) c.1448+58C>T (n.1448+58C>T) | dbSNP |
| 11 | g.68781714G>A | CA223374201 | CPT1A | c.1352+57C>T (n.1352+57C>T) c.1448+57C>T (n.1448+57C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68781714G>C | CA223374204 | CPT1A | c.1352+57C>G (n.1352+57C>G) c.1448+57C>G (n.1448+57C>G) | dbSNP |
| 11 | g.68781714G>T | CA2614734959 | CPT1A | c.1352+57C>A (n.1352+57C>A) c.1448+57C>A (n.1448+57C>A) | gnomAD v4 |
| 11 | g.68781715G>A | CA939176275 | CPT1A | c.1352+56C>T (n.1352+56C>T) c.1448+56C>T (n.1448+56C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68781715G>T | CA679627654 | CPT1A | c.1352+56C>A (n.1352+56C>A) c.1448+56C>A (n.1448+56C>A) | dbSNP gnomAD v4 |
| 11 | g.68781716T>G | CA2724262837 | CPT1A | c.1352+55A>C (n.1352+55A>C) c.1448+55A>C (n.1448+55A>C) | dbSNP |
| 11 | g.68781717A>T | CA2614734962 | CPT1A | c.1352+54T>A (n.1352+54T>A) c.1448+54T>A (n.1448+54T>A) | gnomAD v4 |
| 11 | g.68781722T>C | CA2614734963 | CPT1A | c.1352+49A>G (n.1352+49A>G) c.1448+49A>G (n.1448+49A>G) | gnomAD v4 |
| 11 | g.68781724C>T | CA2724281132 | CPT1A | c.1352+47G>A (n.1352+47G>A) c.1448+47G>A (n.1448+47G>A) | dbSNP |
| 11 | g.68781727del | CA2614734964 | CPT1A | c.1352+45del (n.1352+45del) c.1448+45del (n.1448+45del) | gnomAD v4 |
| 11 | g.68781728G>T | CA2614734965 | CPT1A | c.1352+43C>A (n.1352+43C>A) c.1448+43C>A (n.1448+43C>A) | gnomAD v4 |
| 11 | g.68781729C>T | CA2574903234 | CPT1A | c.1352+42G>A (n.1352+42G>A) c.1448+42G>A (n.1448+42G>A) | |
| 11 | g.68781731C>A | CA2614734966 | CPT1A | c.1352+40G>T (n.1352+40G>T) c.1448+40G>T (n.1448+40G>T) | gnomAD v4 |
| 11 | g.68781731C>T | CA2614734967 | CPT1A | c.1352+40G>A (n.1352+40G>A) c.1448+40G>A (n.1448+40G>A) | gnomAD v4 |
| 11 | g.68781732A>C | CA599989134 | CPT1A | c.1352+39T>G (n.1352+39T>G) c.1448+39T>G (n.1448+39T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68781732A>G | CA2614734968 | CPT1A | c.1352+39T>C (n.1352+39T>C) c.1448+39T>C (n.1448+39T>C) | gnomAD v4 |
| 11 | g.68781733T>C | CA599989135 | CPT1A | c.1352+38A>G (n.1352+38A>G) c.1448+38A>G (n.1448+38A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781736del | CA6152340 | CPT1A | c.1352+37del (n.1352+37del) c.1448+37del (n.1448+37del) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 11 | g.68781735G>T | CA2614734969 | CPT1A | c.1352+36C>A (n.1352+36C>A) c.1448+36C>A (n.1448+36C>A) | gnomAD v4 |
| 11 | g.68781736G>A | CA2574903235 | CPT1A | c.1352+35C>T (n.1352+35C>T) c.1448+35C>T (n.1448+35C>T) | |
| 11 | g.68781736G>T | CA654280418 | CPT1A | c.1352+35C>A (n.1352+35C>A) c.1448+35C>A (n.1448+35C>A) | gnomAD v4 COSMIC |
| 11 | g.68781740dup | CA6152341 | CPT1A | c.1352+33dup (n.1352+33dup) c.1448+33dup (n.1448+33dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781740A>G | CA2614734970 | CPT1A | c.1352+31T>C (n.1352+31T>C) c.1448+31T>C (n.1448+31T>C) | gnomAD v4 |
| 11 | g.68781741C>A | CA2574903236 | CPT1A | c.1352+30G>T (n.1352+30G>T) c.1448+30G>T (n.1448+30G>T) | gnomAD v4 |
| 11 | g.68781741C>T | CA679627665 | CPT1A | c.1352+30G>A (n.1352+30G>A) c.1448+30G>A (n.1448+30G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68781742T>C | CA2792552972 | CPT1A | c.1352+29A>G (n.1352+29A>G) c.1448+29A>G (n.1448+29A>G) | |
| 11 | g.68781742T>G | CA2614734971 | CPT1A | c.1352+29A>C (n.1352+29A>C) c.1448+29A>C (n.1448+29A>C) | gnomAD v4 |
| 11 | g.68781743C>A | CA2614734972 | CPT1A | c.1352+28G>T (n.1352+28G>T) c.1448+28G>T (n.1448+28G>T) | gnomAD v4 |
| 11 | g.68781743C>T | CA2574903237 | CPT1A | c.1352+28G>A (n.1352+28G>A) c.1448+28G>A (n.1448+28G>A) | gnomAD v4 |
| 11 | g.68781744C>G | CA6152342 | CPT1A | c.1352+27G>C (n.1352+27G>C) c.1448+27G>C (n.1448+27G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68781746G>A | CA599989138 | CPT1A | c.1352+25C>T (n.1352+25C>T) c.1448+25C>T (n.1448+25C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68781746G>T | CA6152343 | CPT1A | c.1352+25C>A (n.1352+25C>A) c.1448+25C>A (n.1448+25C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68781748C>A | CA2724230529 | CPT1A | c.1352+23G>T (n.1352+23G>T) c.1448+23G>T (n.1448+23G>T) | dbSNP |
| 11 | g.68781748C>G | CA599989140 | CPT1A | c.1352+23G>C (n.1352+23G>C) c.1448+23G>C (n.1448+23G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68781752C>G | CA2574903238 | CPT1A | c.1352+19G>C (n.1352+19G>C) c.1448+19G>C (n.1448+19G>C) | |
| 11 | g.68781752C>T | CA6152344 | CPT1A | c.1352+19G>A (n.1352+19G>A) c.1448+19G>A (n.1448+19G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68781754G>A | CA599989141 | CPT1A | c.1352+17C>T (n.1352+17C>T) c.1448+17C>T (n.1448+17C>T) | dbSNP gnomAD v2 |
| 11 | g.68781754G>C | CA6152345 | CPT1A | c.1352+17C>G (n.1352+17C>G) c.1448+17C>G (n.1448+17C>G) | dbSNP ExAC |
| 11 | g.68781755A>T | CA2614734973 | CPT1A | c.1352+16T>A (n.1352+16T>A) c.1448+16T>A (n.1448+16T>A) | gnomAD v4 |
| 11 | g.68781756A>G | CA223374214 | CPT1A | c.1352+15T>C (n.1352+15T>C) c.1448+15T>C (n.1448+15T>C) | dbSNP |
| 11 | g.68781757G>C | CA6152347 | CPT1A | c.1352+14C>G (n.1352+14C>G) c.1448+14C>G (n.1448+14C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781757G>T | CA6152346 | CPT1A | c.1352+14C>A (n.1352+14C>A) c.1448+14C>A (n.1448+14C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781758G>A | CA599989145 | CPT1A | c.1352+13C>T (n.1352+13C>T) c.1448+13C>T (n.1448+13C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781760A>G | CA599989146 | CPT1A | c.1352+11T>C (n.1352+11T>C) c.1448+11T>C (n.1448+11T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68781761A>C | CA2724281133 | CPT1A | c.1352+10T>G (n.1352+10T>G) c.1448+10T>G (n.1448+10T>G) | dbSNP |
| 11 | g.68781762G>A | CA2614734974 | CPT1A | c.1352+9C>T (n.1352+9C>T) c.1448+9C>T (n.1448+9C>T) | gnomAD v4 |
| 11 | g.68781765C>T | CA6152348 | CPT1A | c.1352+6G>A (n.1352+6G>A) c.1448+6G>A (n.1448+6G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781767_68781776del | CA912972990 | CPT1A | c.1349_1352+6del c.1445_1448+6del | |
| 11 | g.68781766G>A | CA6152349 | CPT1A | c.1352+5C>T (n.1352+5C>T) c.1448+5C>T (n.1448+5C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781766G>C | CA2614734975 | CPT1A | c.1352+5C>G (n.1352+5C>G) c.1448+5C>G (n.1448+5C>G) | gnomAD v4 |
| 11 | g.68781766G>T | CA599989149 | CPT1A | c.1352+5C>A (n.1352+5C>A) c.1448+5C>A (n.1448+5C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68781767G>A | CA599989150 | CPT1A | c.1352+4C>T (n.1352+4C>T) c.1448+4C>T (n.1448+4C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781767G>C | CA2574903239 | CPT1A | c.1352+4C>G (n.1352+4C>G) c.1448+4C>G (n.1448+4C>G) | gnomAD v4 |
| 11 | g.68781770_68781778del | CA658822717 | CPT1A | c.1348_1352+4del c.1444_1448+4del | ClinVar dbSNP |
| 11 | g.68781769A>C | CA381631258 | CPT1A | c.1352+2T>G (n.1352+2T>G) c.1448+2T>G (n.1448+2T>G) | |
| 11 | g.68781769A>G | CA381631259 | CPT1A | c.1352+2T>C (n.1352+2T>C) c.1448+2T>C (n.1448+2T>C) | |
| 11 | g.68781769A>T | CA381631260 | CPT1A | c.1352+2T>A (n.1352+2T>A) c.1448+2T>A (n.1448+2T>A) | |
| 11 | g.68781770C>A | CA381631261 | CPT1A | c.1352+1G>T (n.1352+1G>T) c.1448+1G>T (n.1448+1G>T) | |
| 11 | g.68781770C>G | CA381631262 | CPT1A | c.1352+1G>C (n.1352+1G>C) c.1448+1G>C (n.1448+1G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68781770C>T | CA381631263 | CPT1A | c.1352+1G>A (n.1352+1G>A) c.1448+1G>A (n.1448+1G>A) | |
| 11 | g.68781771C>A | CA381631264 | CPT1A | c.1352G>T (p.Arg451Met) c.1448G>T (p.Arg483Met) | |
| 11 | g.68781771C>G | CA381631266 | CPT1A | c.1352G>C (p.Arg451Thr) c.1448G>C (p.Arg483Thr) | |
| 11 | g.68781771C>T | CA381631265 | CPT1A | c.1352G>A (p.Arg451Lys) c.1448G>A (p.Arg483Lys) | |
| 11 | g.68781772T>A | CA381631267 | CPT1A | c.1351A>T (p.Arg451Trp) c.1447A>T (p.Arg483Trp) | |
| 11 | g.68781772T>C | CA381631268 | CPT1A | c.1351A>G (p.Arg451Gly) c.1447A>G (p.Arg483Gly) | |
| 11 | g.68781772T>G | CA475194138 | CPT1A | c.1351A>C (p.Arg451=) c.1447A>C (p.Arg483=) | |
| 11 | g.68781773G>A | CA475194141 | CPT1A | c.1350C>T (p.Asp450=) c.1446C>T (p.Asp482=) | ClinVar dbSNP |
| 11 | g.68781773G>C | CA381631269 | CPT1A | c.1350C>G (p.Asp450Glu) c.1446C>G (p.Asp482Glu) | |
| 11 | g.68781773G>T | CA381631270 | CPT1A | c.1350C>A (p.Asp450Glu) c.1446C>A (p.Asp482Glu) | |
| 11 | g.68781774T>A | CA381631271 | CPT1A | c.1349A>T (p.Asp450Val) c.1445A>T (p.Asp482Val) | |
| 11 | g.68781774T>C | CA381631273 | CPT1A | c.1349A>G (p.Asp450Gly) c.1445A>G (p.Asp482Gly) | |
| 11 | g.68781774T>G | CA381631272 | CPT1A | c.1349A>C (p.Asp450Ala) c.1445A>C (p.Asp482Ala) | |
| 11 | g.68781775C>A | CA381631274 | CPT1A | c.1348G>T (p.Asp450Tyr) c.1444G>T (p.Asp482Tyr) | |
| 11 | g.68781775C>G | CA223374224 | CPT1A | c.1348G>C (p.Asp450His) c.1444G>C (p.Asp482His) | dbSNP |
| 11 | g.68781775C>T | CA6152350 | CPT1A | c.1348G>A (p.Asp450Asn) c.1444G>A (p.Asp482Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68781776G>A | CA6152351 | CPT1A | c.1347C>T (p.Tyr449=) c.1443C>T (p.Tyr481=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68781776G>C | CA381631275 | CPT1A | c.1347C>G (p.Tyr449Ter) c.1443C>G (p.Tyr481Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68781776G>T | CA381631276 | CPT1A | c.1347C>A (p.Tyr449Ter) c.1443C>A (p.Tyr481Ter) | |
| 11 | g.68781777T>A | CA381631277 | CPT1A | c.1346A>T (p.Tyr449Phe) c.1442A>T (p.Tyr481Phe) | |
| 11 | g.68781777T>C | CA381631278 | CPT1A | c.1346A>G (p.Tyr449Cys) c.1442A>G (p.Tyr481Cys) | |
| 11 | g.68781777T>G | CA381631279 | CPT1A | c.1346A>C (p.Tyr449Ser) c.1442A>C (p.Tyr481Ser) | |
| 11 | g.68781778A>C | CA381631280 | CPT1A | c.1345T>G (p.Tyr449Asp) c.1441T>G (p.Tyr481Asp) | |
| 11 | g.68781778A>G | CA381631281 | CPT1A | c.1345T>C (p.Tyr449His) c.1441T>C (p.Tyr481His) | |
| 11 | g.68781778A>T | CA381631282 | CPT1A | c.1345T>A (p.Tyr449Asn) c.1441T>A (p.Tyr481Asn) | |
| 11 | g.68781779A>C | CA381631284 | CPT1A | c.1344T>G (p.Cys448Trp) c.1440T>G (p.Cys480Trp) | |
| 11 | g.68781779A>G | CA475194178 | CPT1A | c.1344T>C (p.Cys448=) c.1440T>C (p.Cys480=) | |
| 11 | g.68781779A>T | CA381631283 | CPT1A | c.1344T>A (p.Cys448Ter) c.1440T>A (p.Cys480Ter) | |
| 11 | g.68781780C>A | CA381631285 | CPT1A | c.1343G>T (p.Cys448Phe) c.1439G>T (p.Cys480Phe) | |
| 11 | g.68781780C>G | CA381631287 | CPT1A | c.1343G>C (p.Cys448Ser) c.1439G>C (p.Cys480Ser) | |
| 11 | g.68781780C>T | CA381631286 | CPT1A | c.1343G>A (p.Cys448Tyr) c.1439G>A (p.Cys480Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781781A>C | CA381631288 | CPT1A | c.1342T>G (p.Cys448Gly) c.1438T>G (p.Cys480Gly) | gnomAD v4 |
| 11 | g.68781781A>G | CA381631290 | CPT1A | c.1342T>C (p.Cys448Arg) c.1438T>C (p.Cys480Arg) | |
| 11 | g.68781781A>T | CA381631289 | CPT1A | c.1342T>A (p.Cys448Ser) c.1438T>A (p.Cys480Ser) | |
| 11 | g.68781782T>A | CA475194198 | CPT1A | c.1341A>T (p.Arg447=) c.1437A>T (p.Arg479=) | |
| 11 | g.68781782T>C | CA475194195 | CPT1A | c.1341A>G (p.Arg447=) c.1437A>G (p.Arg479=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68781782T>G | CA475194193 | CPT1A | c.1341A>C (p.Arg447=) c.1437A>C (p.Arg479=) | |
| 11 | g.68781783C>A | CA381631291 | CPT1A | c.1340G>T (p.Arg447Leu) c.1436G>T (p.Arg479Leu) | |
| 11 | g.68781783C>G | CA381631292 | CPT1A | c.1340G>C (p.Arg447Pro) c.1436G>C (p.Arg479Pro) | |
| 11 | g.68781783C>T | CA6152352 | CPT1A | c.1340G>A (p.Arg447Gln) c.1436G>A (p.Arg479Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68781784G>A | CA344962 | CPT1A | c.1339C>T (p.Arg447Ter) c.1435C>T (p.Arg479Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68781784G>C | CA381631293 | CPT1A | c.1339C>G (p.Arg447Gly) c.1435C>G (p.Arg479Gly) | |
| 11 | g.68781784G>T | CA475194208 | CPT1A | c.1339C>A (p.Arg447=) c.1435C>A (p.Arg479=) | |
| 11 | g.68781785G>A | CA475194212 | CPT1A | c.1338C>T (p.Gly446=) c.1434C>T (p.Gly478=) | |
| 11 | g.68781785G>C | CA475194215 | CPT1A | c.1338C>G (p.Gly446=) c.1434C>G (p.Gly478=) | |
| 11 | g.68781785G>T | CA475194213 | CPT1A | c.1338C>A (p.Gly446=) c.1434C>A (p.Gly478=) | |
| 11 | g.68781786C>A | CA381631294 | CPT1A | c.1337G>T (p.Gly446Val) c.1433G>T (p.Gly478Val) | |
| 11 | g.68781786C>G | CA381631296 | CPT1A | c.1337G>C (p.Gly446Ala) c.1433G>C (p.Gly478Ala) | |
| 11 | g.68781786C>T | CA381631295 | CPT1A | c.1337G>A (p.Gly446Asp) c.1433G>A (p.Gly478Asp) | |
| 11 | g.68781787C>A | CA381631297 | CPT1A | c.1336G>T (p.Gly446Cys) c.1432G>T (p.Gly478Cys) | |
| 11 | g.68781787C>G | CA381631298 | CPT1A | c.1336G>C (p.Gly446Arg) c.1432G>C (p.Gly478Arg) | |
| 11 | g.68781787C>T | CA6152353 | CPT1A | c.1336G>A (p.Gly446Ser) c.1432G>A (p.Gly478Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68781788G>A | CA6152354 | CPT1A | c.1335C>T (p.His445=) c.1431C>T (p.His477=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68781788G>C | CA381631300 | CPT1A | c.1335C>G (p.His445Gln) c.1431C>G (p.His477Gln) | |
| 11 | g.68781788G>T | CA381631299 | CPT1A | c.1335C>A (p.His445Gln) c.1431C>A (p.His477Gln) | gnomAD v4 |
| 11 | g.68781789T>A | CA381631301 | CPT1A | c.1334A>T (p.His445Leu) c.1430A>T (p.His477Leu) | dbSNP gnomAD v4 |
| 11 | g.68781789T>C | CA381631302 | CPT1A | c.1334A>G (p.His445Arg) c.1430A>G (p.His477Arg) | |
| 11 | g.68781789T>G | CA381631303 | CPT1A | c.1334A>C (p.His445Pro) c.1430A>C (p.His477Pro) | gnomAD v4 |
| 11 | g.68781790G>A | CA381631304 | CPT1A | c.1333C>T (p.His445Tyr) c.1429C>T (p.His477Tyr) | |
| 11 | g.68781790G>C | CA381631305 | CPT1A | c.1333C>G (p.His445Asp) c.1429C>G (p.His477Asp) | |
| 11 | g.68781790G>T | CA381631306 | CPT1A | c.1333C>A (p.His445Asn) c.1429C>A (p.His477Asn) | dbSNP |
| 11 | g.68781791T>A | CA475194245 | CPT1A | c.1332A>T (p.Leu444=) c.1428A>T (p.Leu476=) | |
| 11 | g.68781791T>C | CA475194248 | CPT1A | c.1332A>G (p.Leu444=) c.1428A>G (p.Leu476=) | |
| 11 | g.68781791T>G | CA475194249 | CPT1A | c.1332A>C (p.Leu444=) c.1428A>C (p.Leu476=) | |
| 11 | g.68781792A>C | CA381631307 | CPT1A | c.1331T>G (p.Leu444Arg) c.1427T>G (p.Leu476Arg) | |
| 11 | g.68781792A>G | CA381631308 | CPT1A | c.1331T>C (p.Leu444Pro) c.1427T>C (p.Leu476Pro) | |
| 11 | g.68781792A>T | CA381631309 | CPT1A | c.1331T>A (p.Leu444Gln) c.1427T>A (p.Leu476Gln) | |
| 11 | g.68781793G>A | CA475194257 | CPT1A | c.1330C>T (p.Leu444=) c.1426C>T (p.Leu476=) | gnomAD v4 |
| 11 | g.68781793G>C | CA381631310 | CPT1A | c.1330C>G (p.Leu444Val) c.1426C>G (p.Leu476Val) | |
| 11 | g.68781793G>T | CA381631311 | CPT1A | c.1330C>A (p.Leu444Ile) c.1426C>A (p.Leu476Ile) | |
| 11 | g.68781794T>A | CA475194260 | CPT1A | c.1329A>T (p.Leu443=) c.1425A>T (p.Leu475=) | |
| 11 | g.68781794T>C | CA475194262 | CPT1A | c.1329A>G (p.Leu443=) c.1425A>G (p.Leu475=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68781794T>G | CA475194265 | CPT1A | c.1329A>C (p.Leu443=) c.1425A>C (p.Leu475=) | |
| 11 | g.68781795A>C | CA381631314 | CPT1A | c.1328T>G (p.Leu443Arg) c.1424T>G (p.Leu475Arg) | gnomAD v4 |
| 11 | g.68781795A>G | CA381631312 | CPT1A | c.1328T>C (p.Leu443Pro) c.1424T>C (p.Leu475Pro) | |
| 11 | g.68781795A>T | CA381631313 | CPT1A | c.1328T>A (p.Leu443Gln) c.1424T>A (p.Leu475Gln) | |
| 11 | g.68781795dup | CA2573147550 | CPT1A | c.1328dup (p.Leu444ThrfsTer11) c.1424dup (p.Leu476ThrfsTer11) | ClinVar dbSNP |
| 11 | g.68781796G>A | CA475194271 | CPT1A | c.1327C>T (p.Leu443=) c.1423C>T (p.Leu475=) | |
| 11 | g.68781796G>C | CA381631315 | CPT1A | c.1327C>G (p.Leu443Val) c.1423C>G (p.Leu475Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68781796G>T | CA381631316 | CPT1A | c.1327C>A (p.Leu443Ile) c.1423C>A (p.Leu475Ile) | |
| 11 | g.68781797A>C | CA475194278 | CPT1A | c.1326T>G (p.Ser442=) c.1422T>G (p.Ser474=) | |
| 11 | g.68781797A>G | CA475194280 | CPT1A | c.1326T>C (p.Ser442=) c.1422T>C (p.Ser474=) | gnomAD v4 |
| 11 | g.68781797A>T | CA475194283 | CPT1A | c.1326T>A (p.Ser442=) c.1422T>A (p.Ser474=) | |
| 11 | g.68781798G>A | CA381631317 | CPT1A | c.1325C>T (p.Ser442Phe) c.1421C>T (p.Ser474Phe) | |
| 11 | g.68781798G>C | CA381631318 | CPT1A | c.1325C>G (p.Ser442Cys) c.1421C>G (p.Ser474Cys) | |
| 11 | g.68781798G>T | CA381631319 | CPT1A | c.1325C>A (p.Ser442Tyr) c.1421C>A (p.Ser474Tyr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68781799A>C | CA381631320 | CPT1A | c.1324T>G (p.Ser442Ala) c.1420T>G (p.Ser474Ala) | |
| 11 | g.68781799A>G | CA381631321 | CPT1A | c.1324T>C (p.Ser442Pro) c.1420T>C (p.Ser474Pro) | |
| 11 | g.68781799A>T | CA381631322 | CPT1A | c.1324T>A (p.Ser442Thr) c.1420T>A (p.Ser474Thr) | |
| 11 | g.68781802_68781818del | CA2574903240 | CPT1A | c.1308_1324del (p.Met436IlefsTer13) c.1404_1420del (p.Met468IlefsTer13) | |
| 11 | g.68781800T>A | CA381631323 | CPT1A | c.1323A>T (p.Lys441Asn) c.1419A>T (p.Lys473Asn) | |
| 11 | g.68781800T>C | CA475194295 | CPT1A | c.1323A>G (p.Lys441=) c.1419A>G (p.Lys473=) | ClinVar dbSNP |
| 11 | g.68781800T>G | CA381631324 | CPT1A | c.1323A>C (p.Lys441Asn) c.1419A>C (p.Lys473Asn) | |
| 11 | g.68781801T>A | CA381631327 | CPT1A | c.1322A>T (p.Lys441Ile) c.1418A>T (p.Lys473Ile) | |
| 11 | g.68781801T>C | CA381631326 | CPT1A | c.1322A>G (p.Lys441Arg) c.1418A>G (p.Lys473Arg) | |
| 11 | g.68781801T>G | CA381631325 | CPT1A | c.1322A>C (p.Lys441Thr) c.1418A>C (p.Lys473Thr) | |
| 11 | g.68781802T>A | CA381631328 | CPT1A | c.1321A>T (p.Lys441Ter) c.1417A>T (p.Lys473Ter) | |
| 11 | g.68781802T>C | CA381631329 | CPT1A | c.1321A>G (p.Lys441Glu) c.1417A>G (p.Lys473Glu) | |
| 11 | g.68781802T>G | CA381631330 | CPT1A | c.1321A>C (p.Lys441Gln) c.1417A>C (p.Lys473Gln) | |
| 11 | g.68781803G>A | CA6152355 | CPT1A | c.1320C>T (p.Ala440=) c.1416C>T (p.Ala472=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68781803G>C | CA475195058 | CPT1A | c.1320C>G (p.Ala440=) c.1416C>G (p.Ala472=) | dbSNP gnomAD v2 |
| 11 | g.68781803G>T | CA475195067 | CPT1A | c.1320C>A (p.Ala440=) c.1416C>A (p.Ala472=) | |
| 11 | g.68781804G>A | CA6152356 | CPT1A | c.1319C>T (p.Ala440Val) c.1415C>T (p.Ala472Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68781804G>C | CA381631331 | CPT1A | c.1319C>G (p.Ala440Gly) c.1415C>G (p.Ala472Gly) | gnomAD v4 |
| 11 | g.68781804G>T | CA381631332 | CPT1A | c.1319C>A (p.Ala440Asp) c.1415C>A (p.Ala472Asp) |