| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68784754C>A | CA2574903279 | CPT1A | c.1163+61G>T (n.1163+61G>T) c.1259+61G>T (n.1259+61G>T) | |
| 11 | g.68784754C>T | CA2614735419 | CPT1A | c.1163+61G>A (n.1163+61G>A) c.1259+61G>A (n.1259+61G>A) | gnomAD v4 |
| 11 | g.68784755C>G | CA223375660 | CPT1A | c.1163+60G>C (n.1163+60G>C) c.1259+60G>C (n.1259+60G>C) | dbSNP gnomAD v4 |
| 11 | g.68784755C>T | CA2614735420 | CPT1A | c.1163+60G>A (n.1163+60G>A) c.1259+60G>A (n.1259+60G>A) | gnomAD v4 |
| 11 | g.68784756A>G | CA2724561774 | CPT1A | c.1163+59T>C (n.1163+59T>C) c.1259+59T>C (n.1259+59T>C) | dbSNP |
| 11 | g.68784758T>A | CA2614735421 | CPT1A | c.1163+57A>T (n.1163+57A>T) c.1259+57A>T (n.1259+57A>T) | gnomAD v4 |
| 11 | g.68784759G>A | CA679629209 | CPT1A | c.1163+56C>T (n.1163+56C>T) c.1259+56C>T (n.1259+56C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68784759G>T | CA2614735422 | CPT1A | c.1163+56C>A (n.1163+56C>A) c.1259+56C>A (n.1259+56C>A) | gnomAD v4 |
| 11 | g.68784761G>C | CA223375669 | CPT1A | c.1163+54C>G (n.1163+54C>G) c.1259+54C>G (n.1259+54C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784761G>T | CA2614735423 | CPT1A | c.1163+54C>A (n.1163+54C>A) c.1259+54C>A (n.1259+54C>A) | gnomAD v4 |
| 11 | g.68784762G>A | CA2724283870 | CPT1A | c.1163+53C>T (n.1163+53C>T) c.1259+53C>T (n.1259+53C>T) | dbSNP |
| 11 | g.68784764A>G | CA6152387 | CPT1A | c.1163+51T>C (n.1163+51T>C) c.1259+51T>C (n.1259+51T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784765G>A | CA6152388 | CPT1A | c.1163+50C>T (n.1163+50C>T) c.1259+50C>T (n.1259+50C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784765G>C | CA2724199375 | CPT1A | c.1163+50C>G (n.1163+50C>G) c.1259+50C>G (n.1259+50C>G) | dbSNP |
| 11 | g.68784766A>C | CA2574903280 | CPT1A | c.1163+49T>G (n.1163+49T>G) c.1259+49T>G (n.1259+49T>G) | |
| 11 | g.68784766A>G | CA2614735426 | CPT1A | c.1163+49T>C (n.1163+49T>C) c.1259+49T>C (n.1259+49T>C) | gnomAD v4 |
| 11 | g.68784767G>A | CA2574903281 | CPT1A | c.1163+48C>T (n.1163+48C>T) c.1259+48C>T (n.1259+48C>T) | |
| 11 | g.68784767G>C | CA599989513 | CPT1A | c.1163+48C>G (n.1163+48C>G) c.1259+48C>G (n.1259+48C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784767G>T | CA2614735427 | CPT1A | c.1163+48C>A (n.1163+48C>A) c.1259+48C>A (n.1259+48C>A) | gnomAD v4 |
| 11 | g.68784768C>A | CA2614735428 | CPT1A | c.1163+47G>T (n.1163+47G>T) c.1259+47G>T (n.1259+47G>T) | gnomAD v4 |
| 11 | g.68784768C>T | CA6152389 | CPT1A | c.1163+47G>A (n.1163+47G>A) c.1259+47G>A (n.1259+47G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784769G>A | CA6152390 | CPT1A | c.1163+46C>T (n.1163+46C>T) c.1259+46C>T (n.1259+46C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784769G>T | CA2614735429 | CPT1A | c.1163+46C>A (n.1163+46C>A) c.1259+46C>A (n.1259+46C>A) | gnomAD v4 |
| 11 | g.68784769_68784772dup | CA2614735430 | CPT1A | c.1163+43_1163+46dup (n.1163+43_1163+46dup) c.1259+43_1259+46dup (n.1259+43_1259+46dup) | gnomAD v4 |
| 11 | g.68784772T>C | CA223375690 | CPT1A | c.1163+43A>G (n.1163+43A>G) c.1259+43A>G (n.1259+43A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784773C>A | CA2614735433 | CPT1A | c.1163+42G>T (n.1163+42G>T) c.1259+42G>T (n.1259+42G>T) | gnomAD v4 |
| 11 | g.68784773C>G | CA6152391 | CPT1A | c.1163+42G>C (n.1163+42G>C) c.1259+42G>C (n.1259+42G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784778_68784780dup | CA2614735432 | CPT1A | c.1163+40_1163+42dup (n.1163+40_1163+42dup) c.1259+40_1259+42dup (n.1259+40_1259+42dup) | gnomAD v4 |
| 11 | g.68784774C>T | CA599989514 | CPT1A | c.1163+41G>A (n.1163+41G>A) c.1259+41G>A (n.1259+41G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68784776C>A | CA599989515 | CPT1A | c.1163+39G>T (n.1163+39G>T) c.1259+39G>T (n.1259+39G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68784776C>T | CA2614735436 | CPT1A | c.1163+39G>A (n.1163+39G>A) c.1259+39G>A (n.1259+39G>A) | gnomAD v4 |
| 11 | g.68784777C>A | CA599989516 | CPT1A | c.1163+38G>T (n.1163+38G>T) c.1259+38G>T (n.1259+38G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68784777C>T | CA6152392 | CPT1A | c.1163+38G>A (n.1163+38G>A) c.1259+38G>A (n.1259+38G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784778A>C | CA2614735437 | CPT1A | c.1163+37T>G (n.1163+37T>G) c.1259+37T>G (n.1259+37T>G) | dbSNP gnomAD v4 |
| 11 | g.68784779C>A | CA599989517 | CPT1A | c.1163+36G>T (n.1163+36G>T) c.1259+36G>T (n.1259+36G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784779C>T | CA6152394 | CPT1A | c.1163+36G>A (n.1163+36G>A) c.1259+36G>A (n.1259+36G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784784dup | CA2614735441 | CPT1A | c.1163+36dup (n.1163+36dup) c.1259+36dup (n.1259+36dup) | gnomAD v4 |
| 11 | g.68784784del | CA6152393 | CPT1A | c.1163+36del (n.1163+36del) c.1259+36del (n.1259+36del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68784782_68784784del | CA2614735442 | CPT1A | c.1163+34_1163+36del (n.1163+34_1163+36del) c.1259+34_1259+36del (n.1259+34_1259+36del) | gnomAD v4 |
| 11 | g.68784780C>A | CA2503922051 | CPT1A | c.1163+35G>T (n.1163+35G>T) c.1259+35G>T (n.1259+35G>T) | |
| 11 | g.68784780C>T | CA2614735444 | CPT1A | c.1163+35G>A (n.1163+35G>A) c.1259+35G>A (n.1259+35G>A) | gnomAD v4 |
| 11 | g.68784781C>A | CA2574903282 | CPT1A | c.1163+34G>T (n.1163+34G>T) c.1259+34G>T (n.1259+34G>T) | gnomAD v4 |
| 11 | g.68784782C>A | CA2614735447 | CPT1A | c.1163+33G>T (n.1163+33G>T) c.1259+33G>T (n.1259+33G>T) | gnomAD v4 |
| 11 | g.68784782C>G | CA2614735448 | CPT1A | c.1163+33G>C (n.1163+33G>C) c.1259+33G>C (n.1259+33G>C) | dbSNP gnomAD v4 |
| 11 | g.68784782C>T | CA6152395 | CPT1A | c.1163+33G>A (n.1163+33G>A) c.1259+33G>A (n.1259+33G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784782_68784783insAAACACAC | CA2792553037 | CPT1A | c.1163+33_1163+34insTGTGTTTG (n.1163+33_1163+34insTGTGTTTG) c.1259+33_1259+34insTGTGTTTG (n.1259+33_1259+34insTGTGTTTG) | |
| 11 | g.68784783C>A | CA6152396 | CPT1A | c.1163+32G>T (n.1163+32G>T) c.1259+32G>T (n.1259+32G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68784783C>G | CA2724202973 | CPT1A | c.1163+32G>C (n.1163+32G>C) c.1259+32G>C (n.1259+32G>C) | dbSNP |
| 11 | g.68784783C>T | CA2614735450 | CPT1A | c.1163+32G>A (n.1163+32G>A) c.1259+32G>A (n.1259+32G>A) | gnomAD v4 |
| 11 | g.68784784C>A | CA2614735451 | CPT1A | c.1163+31G>T (n.1163+31G>T) c.1259+31G>T (n.1259+31G>T) | gnomAD v4 |
| 11 | g.68784784C>T | CA6152397 | CPT1A | c.1163+31G>A (n.1163+31G>A) c.1259+31G>A (n.1259+31G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784785A>G | CA2502963146 | CPT1A | c.1163+30T>C (n.1163+30T>C) c.1259+30T>C (n.1259+30T>C) | |
| 11 | g.68784788del | CA2614735452 | CPT1A | c.1163+30del (n.1163+30del) c.1259+30del (n.1259+30del) | gnomAD v4 |
| 11 | g.68784786A>C | CA2574903283 | CPT1A | c.1163+29T>G (n.1163+29T>G) c.1259+29T>G (n.1259+29T>G) | dbSNP gnomAD v4 |
| 11 | g.68784786A>G | CA2614735454 | CPT1A | c.1163+29T>C (n.1163+29T>C) c.1259+29T>C (n.1259+29T>C) | gnomAD v4 |
| 11 | g.68784787A>C | CA2792553038 | CPT1A | c.1163+28T>G (n.1163+28T>G) c.1259+28T>G (n.1259+28T>G) | |
| 11 | g.68784787_68784788insCACACCCAAC | CA2792553039 | CPT1A | c.1163+27_1163+28insGTTGGGTGTG (n.1163+27_1163+28insGTTGGGTGTG) c.1259+27_1259+28insGTTGGGTGTG (n.1259+27_1259+28insGTTGGGTGTG) | |
| 11 | g.68784789C>T | CA2724283912 | CPT1A | c.1163+26G>A (n.1163+26G>A) c.1259+26G>A (n.1259+26G>A) | dbSNP |
| 11 | g.68784791G>C | CA2574903284 | CPT1A | c.1163+24C>G (n.1163+24C>G) c.1259+24C>G (n.1259+24C>G) | |
| 11 | g.68784791G>T | CA2614735455 | CPT1A | c.1163+24C>A (n.1163+24C>A) c.1259+24C>A (n.1259+24C>A) | gnomAD v4 |
| 11 | g.68784794C>A | CA2614735456 | CPT1A | c.1163+21G>T (n.1163+21G>T) c.1259+21G>T (n.1259+21G>T) | gnomAD v4 |
| 11 | g.68784794C>T | CA6152398 | CPT1A | c.1163+21G>A (n.1163+21G>A) c.1259+21G>A (n.1259+21G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68784795A>G | CA2574903285 | CPT1A | c.1163+20T>C (n.1163+20T>C) c.1259+20T>C (n.1259+20T>C) | ClinVar gnomAD v4 |
| 11 | g.68784796del | CA2614735459 | CPT1A | c.1163+20del (n.1163+20del) c.1259+20del (n.1259+20del) | gnomAD v4 |
| 11 | g.68784797G>A | CA2739270625 | CPT1A | c.1163+18C>T (n.1163+18C>T) c.1259+18C>T (n.1259+18C>T) | ClinVar |
| 11 | g.68784799G>C | CA2574903286 | CPT1A | c.1163+16C>G (n.1163+16C>G) c.1259+16C>G (n.1259+16C>G) | |
| 11 | g.68784799G>T | CA2614735460 | CPT1A | c.1163+16C>A (n.1163+16C>A) c.1259+16C>A (n.1259+16C>A) | gnomAD v4 |
| 11 | g.68784801C>A | CA2614735462 | CPT1A | c.1163+14G>T (n.1163+14G>T) c.1259+14G>T (n.1259+14G>T) | gnomAD v4 |
| 11 | g.68784801C>T | CA2614735461 | CPT1A | c.1163+14G>A (n.1163+14G>A) c.1259+14G>A (n.1259+14G>A) | gnomAD v4 |
| 11 | g.68784803T>C | CA2739270626 | CPT1A | c.1163+12A>G (n.1163+12A>G) c.1259+12A>G (n.1259+12A>G) | ClinVar |
| 11 | g.68784807C>A | CA2614735467 | CPT1A | c.1163+8G>T (n.1163+8G>T) c.1259+8G>T (n.1259+8G>T) | gnomAD v4 |
| 11 | g.68784807C>G | CA6152399 | CPT1A | c.1163+8G>C (n.1163+8G>C) c.1259+8G>C (n.1259+8G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68784807C>T | CA2573147552 | CPT1A | c.1163+8G>A (n.1163+8G>A) c.1259+8G>A (n.1259+8G>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68784807_68784812dup | CA2574903287 | CPT1A | c.1163+3_1163+8dup (n.1163+3_1163+8dup) c.1259+3_1259+8dup (n.1259+3_1259+8dup) | |
| 11 | g.68784808T>C | CA2614735468 | CPT1A | c.1163+7A>G (n.1163+7A>G) c.1259+7A>G (n.1259+7A>G) | gnomAD v4 |
| 11 | g.68784809G>A | CA2614735469 | CPT1A | c.1163+6C>T (n.1163+6C>T) c.1259+6C>T (n.1259+6C>T) | gnomAD v4 |
| 11 | g.68784809G>T | CA939177282 | CPT1A | c.1163+6C>A (n.1163+6C>A) c.1259+6C>A (n.1259+6C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68784810C>A | CA6152401 | CPT1A | c.1163+5G>T (n.1163+5G>T) c.1259+5G>T (n.1259+5G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784810C>T | CA6152400 | CPT1A | c.1163+5G>A (n.1163+5G>A) c.1259+5G>A (n.1259+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784811G>A | CA6152402 | CPT1A | c.1163+4C>T (n.1163+4C>T) c.1259+4C>T (n.1259+4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784812C>T | CA6152403 | CPT1A | c.1163+3G>A (n.1163+3G>A) c.1259+3G>A (n.1259+3G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68784813A>C | CA381632573 | CPT1A | c.1163+2T>G (n.1163+2T>G) c.1259+2T>G (n.1259+2T>G) | |
| 11 | g.68784813A>G | CA381632577 | CPT1A | c.1163+2T>C (n.1163+2T>C) c.1259+2T>C (n.1259+2T>C) | ClinVar dbSNP |
| 11 | g.68784813A>T | CA381632580 | CPT1A | c.1163+2T>A (n.1163+2T>A) c.1259+2T>A (n.1259+2T>A) | |
| 11 | g.68784814C>A | CA381632582 | CPT1A | c.1163+1G>T (n.1163+1G>T) c.1259+1G>T (n.1259+1G>T) | |
| 11 | g.68784814C>G | CA381632586 | CPT1A | c.1163+1G>C (n.1163+1G>C) c.1259+1G>C (n.1259+1G>C) | |
| 11 | g.68784814C>T | CA6152404 | CPT1A | c.1163+1G>A (n.1163+1G>A) c.1259+1G>A (n.1259+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784815C>A | CA381632590 | CPT1A | c.1163G>T (p.Arg388Ile) c.1259G>T (p.Arg420Ile) | |
| 11 | g.68784815C>G | CA381632593 | CPT1A | c.1163G>C (p.Arg388Thr) c.1259G>C (p.Arg420Thr) | |
| 11 | g.68784815C>T | CA381632595 | CPT1A | c.1163G>A (p.Arg388Lys) c.1259G>A (p.Arg420Lys) | |
| 11 | g.68784816T>A | CA381632599 | CPT1A | c.1162A>T (p.Arg388Ter) c.1258A>T (p.Arg420Ter) | |
| 11 | g.68784816T>C | CA381632601 | CPT1A | c.1162A>G (p.Arg388Gly) c.1258A>G (p.Arg420Gly) | |
| 11 | g.68784816T>G | CA475196558 | CPT1A | c.1162A>C (p.Arg388=) c.1258A>C (p.Arg420=) | |
| 11 | g.68784817G>A | CA475196560 | CPT1A | c.1161C>T (p.Asp387=) c.1257C>T (p.Asp419=) | |
| 11 | g.68784817G>C | CA381632602 | CPT1A | c.1161C>G (p.Asp387Glu) c.1257C>G (p.Asp419Glu) | |
| 11 | g.68784817G>T | CA381632607 | CPT1A | c.1161C>A (p.Asp387Glu) c.1257C>A (p.Asp419Glu) | |
| 11 | g.68784818T>A | CA381632615 | CPT1A | c.1160A>T (p.Asp387Val) c.1256A>T (p.Asp419Val) | ClinVar |
| 11 | g.68784818T>C | CA381632610 | CPT1A | c.1160A>G (p.Asp387Gly) c.1256A>G (p.Asp419Gly) | |
| 11 | g.68784818T>G | CA381632613 | CPT1A | c.1160A>C (p.Asp387Ala) c.1256A>C (p.Asp419Ala) | |
| 11 | g.68784819C>A | CA381632618 | CPT1A | c.1159G>T (p.Asp387Tyr) c.1255G>T (p.Asp419Tyr) | |
| 11 | g.68784819C>G | CA381632619 | CPT1A | c.1159G>C (p.Asp387His) c.1255G>C (p.Asp419His) | |
| 11 | g.68784819C>T | CA6152405 | CPT1A | c.1159G>A (p.Asp387Asn) c.1255G>A (p.Asp419Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68784820T>A | CA475196571 | CPT1A | c.1158A>T (p.Gly386=) c.1254A>T (p.Gly418=) | |
| 11 | g.68784820T>C | CA475196568 | CPT1A | c.1158A>G (p.Gly386=) c.1254A>G (p.Gly418=) | |
| 11 | g.68784820T>G | CA475196574 | CPT1A | c.1158A>C (p.Gly386=) c.1254A>C (p.Gly418=) | |
| 11 | g.68784821C>A | CA381632624 | CPT1A | c.1157G>T (p.Gly386Val) c.1253G>T (p.Gly418Val) | |
| 11 | g.68784821C>G | CA6152406 | CPT1A | c.1157G>C (p.Gly386Ala) c.1253G>C (p.Gly418Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784821C>T | CA381632628 | CPT1A | c.1157G>A (p.Gly386Glu) c.1253G>A (p.Gly418Glu) | COSMIC COSMIC |
| 11 | g.68784822C>A | CA381632631 | CPT1A | c.1156G>T (p.Gly386Ter) c.1252G>T (p.Gly418Ter) | |
| 11 | g.68784822C>G | CA381632634 | CPT1A | c.1156G>C (p.Gly386Arg) c.1252G>C (p.Gly418Arg) | |
| 11 | g.68784822C>T | CA381632636 | CPT1A | c.1156G>A (p.Gly386Arg) c.1252G>A (p.Gly418Arg) | |
| 11 | g.68784823T>A | CA475196579 | CPT1A | c.1155A>T (p.Ala385=) c.1251A>T (p.Ala417=) | |
| 11 | g.68784823T>C | CA475196582 | CPT1A | c.1155A>G (p.Ala385=) c.1251A>G (p.Ala417=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68784823T>G | CA475196586 | CPT1A | c.1155A>C (p.Ala385=) c.1251A>C (p.Ala417=) | |
| 11 | g.68784824G>A | CA381632638 | CPT1A | c.1154C>T (p.Ala385Val) c.1250C>T (p.Ala417Val) | |
| 11 | g.68784824G>C | CA381632639 | CPT1A | c.1154C>G (p.Ala385Gly) c.1250C>G (p.Ala417Gly) | |
| 11 | g.68784824G>T | CA381632642 | CPT1A | c.1154C>A (p.Ala385Glu) c.1250C>A (p.Ala417Glu) | gnomAD v4 |
| 11 | g.68784825C>A | CA381632646 | CPT1A | c.1153G>T (p.Ala385Ser) c.1249G>T (p.Ala417Ser) | |
| 11 | g.68784825C>G | CA381632645 | CPT1A | c.1153G>C (p.Ala385Pro) c.1249G>C (p.Ala417Pro) | gnomAD v4 |
| 11 | g.68784825C>T | CA6152407 | CPT1A | c.1153G>A (p.Ala385Thr) c.1249G>A (p.Ala417Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68784826G>A | CA6152408 | CPT1A | c.1152C>T (p.Thr384=) c.1248C>T (p.Thr416=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784826G>C | CA475196600 | CPT1A | c.1152C>G (p.Thr384=) c.1248C>G (p.Thr416=) | |
| 11 | g.68784826G>T | CA475196601 | CPT1A | c.1152C>A (p.Thr384=) c.1248C>A (p.Thr416=) | gnomAD v4 |
| 11 | g.68784827G>A | CA381632649 | CPT1A | c.1151C>T (p.Thr384Ile) c.1247C>T (p.Thr416Ile) | gnomAD v4 |
| 11 | g.68784827G>C | CA381632652 | CPT1A | c.1151C>G (p.Thr384Ser) c.1247C>G (p.Thr416Ser) | |
| 11 | g.68784827G>T | CA381632650 | CPT1A | c.1151C>A (p.Thr384Asn) c.1247C>A (p.Thr416Asn) | |
| 11 | g.68784828T>A | CA381632654 | CPT1A | c.1150A>T (p.Thr384Ser) c.1246A>T (p.Thr416Ser) | |
| 11 | g.68784828T>C | CA381632657 | CPT1A | c.1150A>G (p.Thr384Ala) c.1246A>G (p.Thr416Ala) | |
| 11 | g.68784828T>G | CA381632659 | CPT1A | c.1150A>C (p.Thr384Pro) c.1246A>C (p.Thr416Pro) | |
| 11 | g.68784829G>A | CA475196609 | CPT1A | c.1149C>T (p.Leu383=) c.1245C>T (p.Leu415=) | dbSNP |
| 11 | g.68784829G>C | CA475196612 | CPT1A | c.1149C>G (p.Leu383=) c.1245C>G (p.Leu415=) | |
| 11 | g.68784829G>T | CA475196616 | CPT1A | c.1149C>A (p.Leu383=) c.1245C>A (p.Leu415=) | |
| 11 | g.68784830A>C | CA381632661 | CPT1A | c.1148T>G (p.Leu383Arg) c.1244T>G (p.Leu415Arg) | |
| 11 | g.68784830A>G | CA381632663 | CPT1A | c.1148T>C (p.Leu383Pro) c.1244T>C (p.Leu415Pro) | |
| 11 | g.68784830A>T | CA381632665 | CPT1A | c.1148T>A (p.Leu383His) c.1244T>A (p.Leu415His) | |
| 11 | g.68784831G>A | CA223375781 | CPT1A | c.1147C>T (p.Leu383Phe) c.1243C>T (p.Leu415Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68784831G>C | CA381632668 | CPT1A | c.1147C>G (p.Leu383Val) c.1243C>G (p.Leu415Val) | |
| 11 | g.68784831G>T | CA381632670 | CPT1A | c.1147C>A (p.Leu383Ile) c.1243C>A (p.Leu415Ile) | gnomAD v4 |
| 11 | g.68784832G>A | CA475196628 | CPT1A | c.1146C>T (p.Ala382=) c.1242C>T (p.Ala414=) | dbSNP gnomAD v2 |
| 11 | g.68784832G>C | CA475196636 | CPT1A | c.1146C>G (p.Ala382=) c.1242C>G (p.Ala414=) | |
| 11 | g.68784832G>T | CA475196637 | CPT1A | c.1146C>A (p.Ala382=) c.1242C>A (p.Ala414=) | |
| 11 | g.68784833G>A | CA6152409 | CPT1A | c.1145C>T (p.Ala382Val) c.1241C>T (p.Ala414Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68784833G>C | CA381632673 | CPT1A | c.1145C>G (p.Ala382Gly) c.1241C>G (p.Ala414Gly) | |
| 11 | g.68784833G>T | CA381632675 | CPT1A | c.1145C>A (p.Ala382Asp) c.1241C>A (p.Ala414Asp) | gnomAD v4 |
| 11 | g.68784834C>A | CA381632681 | CPT1A | c.1144G>T (p.Ala382Ser) c.1240G>T (p.Ala414Ser) | |
| 11 | g.68784834C>G | CA381632679 | CPT1A | c.1144G>C (p.Ala382Pro) c.1240G>C (p.Ala414Pro) | |
| 11 | g.68784834C>T | CA381632677 | CPT1A | c.1144G>A (p.Ala382Thr) c.1240G>A (p.Ala414Thr) | dbSNP gnomAD v4 |
| 11 | g.68784835T>A | CA475196657 | CPT1A | c.1143A>T (p.Ala381=) c.1239A>T (p.Ala413=) | |
| 11 | g.68784835T>C | CA475196660 | CPT1A | c.1143A>G (p.Ala381=) c.1239A>G (p.Ala413=) | gnomAD v4 |
| 11 | g.68784835T>G | CA475196662 | CPT1A | c.1143A>C (p.Ala381=) c.1239A>C (p.Ala413=) | |
| 11 | g.68784836G>A | CA381632683 | CPT1A | c.1142C>T (p.Ala381Val) c.1238C>T (p.Ala413Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68784836G>C | CA381632685 | CPT1A | c.1142C>G (p.Ala381Gly) c.1238C>G (p.Ala413Gly) | |
| 11 | g.68784836G>T | CA381632687 | CPT1A | c.1142C>A (p.Ala381Glu) c.1238C>A (p.Ala413Glu) | gnomAD v4 |
| 11 | g.68784837C>A | CA381632689 | CPT1A | c.1141G>T (p.Ala381Ser) c.1237G>T (p.Ala413Ser) | |
| 11 | g.68784837C>G | CA381632690 | CPT1A | c.1141G>C (p.Ala381Pro) c.1237G>C (p.Ala413Pro) | |
| 11 | g.68784837C>T | CA381632691 | CPT1A | c.1141G>A (p.Ala381Thr) c.1237G>A (p.Ala413Thr) | |
| 11 | g.68784838C>A | CA475196684 | CPT1A | c.1140G>T (p.Leu380=) c.1236G>T (p.Leu412=) | |
| 11 | g.68784838C>G | CA475196685 | CPT1A | c.1140G>C (p.Leu380=) c.1236G>C (p.Leu412=) | |
| 11 | g.68784838C>T | CA475196689 | CPT1A | c.1140G>A (p.Leu380=) c.1236G>A (p.Leu412=) | |
| 11 | g.68784839A>C | CA381632693 | CPT1A | c.1139T>G (p.Leu380Arg) c.1235T>G (p.Leu412Arg) | |
| 11 | g.68784839A>G | CA381632697 | CPT1A | c.1139T>C (p.Leu380Pro) c.1235T>C (p.Leu412Pro) | |
| 11 | g.68784839A>T | CA381632698 | CPT1A | c.1139T>A (p.Leu380Gln) c.1235T>A (p.Leu412Gln) | |
| 11 | g.68784840G>A | CA475196691 | CPT1A | c.1138C>T (p.Leu380=) c.1234C>T (p.Leu412=) | gnomAD v4 |
| 11 | g.68784840G>C | CA381632700 | CPT1A | c.1138C>G (p.Leu380Val) c.1234C>G (p.Leu412Val) | gnomAD v4 |
| 11 | g.68784840G>T | CA381632702 | CPT1A | c.1138C>A (p.Leu380Met) c.1234C>A (p.Leu412Met) | |
| 11 | g.68784841C>A | CA381632703 | CPT1A | c.1137G>T (p.Arg379Ser) c.1233G>T (p.Arg411Ser) | |
| 11 | g.68784841C>G | CA381632704 | CPT1A | c.1137G>C (p.Arg379Ser) c.1233G>C (p.Arg411Ser) | |
| 11 | g.68784841C>T | CA475196697 | CPT1A | c.1137G>A (p.Arg379=) c.1233G>A (p.Arg411=) | |
| 11 | g.68784842C>A | CA381632709 | CPT1A | c.1136G>T (p.Arg379Met) c.1232G>T (p.Arg411Met) | |
| 11 | g.68784842C>G | CA381632711 | CPT1A | c.1136G>C (p.Arg379Thr) c.1232G>C (p.Arg411Thr) | |
| 11 | g.68784842C>T | CA381632706 | CPT1A | c.1136G>A (p.Arg379Lys) c.1232G>A (p.Arg411Lys) | |
| 11 | g.68784843T>A | CA381632712 | CPT1A | c.1135A>T (p.Arg379Trp) c.1231A>T (p.Arg411Trp) | gnomAD v4 |
| 11 | g.68784843T>C | CA223375792 | CPT1A | c.1135A>G (p.Arg379Gly) c.1231A>G (p.Arg411Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68784843T>G | CA475196720 | CPT1A | c.1135A>C (p.Arg379=) c.1231A>C (p.Arg411=) | |
| 11 | g.68784844G>A | CA475196726 | CPT1A | c.1134C>T (p.Ala378=) c.1230C>T (p.Ala410=) | |
| 11 | g.68784844G>C | CA475196724 | CPT1A | c.1134C>G (p.Ala378=) c.1230C>G (p.Ala410=) | |
| 11 | g.68784844G>T | CA475196721 | CPT1A | c.1134C>A (p.Ala378=) c.1230C>A (p.Ala410=) | |
| 11 | g.68784845G>A | CA381632714 | CPT1A | c.1133C>T (p.Ala378Val) c.1229C>T (p.Ala410Val) | |
| 11 | g.68784845G>C | CA381632716 | CPT1A | c.1133C>G (p.Ala378Gly) c.1229C>G (p.Ala410Gly) | |
| 11 | g.68784845G>T | CA381632718 | CPT1A | c.1133C>A (p.Ala378Asp) c.1229C>A (p.Ala410Asp) | gnomAD v4 |
| 11 | g.68784846C>A | CA381632720 | CPT1A | c.1132G>T (p.Ala378Ser) c.1228G>T (p.Ala410Ser) | gnomAD v4 |
| 11 | g.68784846C>G | CA381632722 | CPT1A | c.1132G>C (p.Ala378Pro) c.1228G>C (p.Ala410Pro) | |
| 11 | g.68784846C>T | CA381632724 | CPT1A | c.1132G>A (p.Ala378Thr) c.1228G>A (p.Ala410Thr) | gnomAD v4 |
| 11 | g.68784847C>A | CA381632726 | CPT1A | c.1131G>T (p.Glu377Asp) c.1227G>T (p.Glu409Asp) | gnomAD v4 |
| 11 | g.68784847C>G | CA381632728 | CPT1A | c.1131G>C (p.Glu377Asp) c.1227G>C (p.Glu409Asp) | |
| 11 | g.68784847C>T | CA475196743 | CPT1A | c.1131G>A (p.Glu377=) c.1227G>A (p.Glu409=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.68784848T>A | CA381632730 | CPT1A | c.1130A>T (p.Glu377Val) c.1226A>T (p.Glu409Val) | |
| 11 | g.68784848T>C | CA381632732 | CPT1A | c.1130A>G (p.Glu377Gly) c.1226A>G (p.Glu409Gly) | |
| 11 | g.68784848T>G | CA381632733 | CPT1A | c.1130A>C (p.Glu377Ala) c.1226A>C (p.Glu409Ala) | |
| 11 | g.68784849C>A | CA381632736 | CPT1A | c.1129G>T (p.Glu377Ter) c.1225G>T (p.Glu409Ter) | gnomAD v4 COSMIC COSMIC |
| 11 | g.68784849C>G | CA381632739 | CPT1A | c.1129G>C (p.Glu377Gln) c.1225G>C (p.Glu409Gln) | |
| 11 | g.68784849C>T | CA381632738 | CPT1A | c.1129G>A (p.Glu377Lys) c.1225G>A (p.Glu409Lys) | ClinVar dbSNP |
| 11 | g.68784852del | CA2614735500 | CPT1A | c.1129del (p.Glu377ArgfsTer?) c.1225del (p.Glu409ArgfsTer?) | gnomAD v4 |
| 11 | g.68784850C>A | CA475196755 | CPT1A | c.1128G>T (p.Gly376=) c.1224G>T (p.Gly408=) | |
| 11 | g.68784850C>G | CA475196757 | CPT1A | c.1128G>C (p.Gly376=) c.1224G>C (p.Gly408=) | |
| 11 | g.68784850C>T | CA475196760 | CPT1A | c.1128G>A (p.Gly376=) c.1224G>A (p.Gly408=) | |
| 11 | g.68784851C>A | CA381632742 | CPT1A | c.1127G>T (p.Gly376Val) c.1223G>T (p.Gly408Val) | |
| 11 | g.68784851C>G | CA381632743 | CPT1A | c.1127G>C (p.Gly376Ala) c.1223G>C (p.Gly408Ala) | |
| 11 | g.68784851C>T | CA381632745 | CPT1A | c.1127G>A (p.Gly376Glu) c.1223G>A (p.Gly408Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68784852C>A | CA381632748 | CPT1A | c.1126G>T (p.Gly376Trp) c.1222G>T (p.Gly408Trp) | COSMIC COSMIC |
| 11 | g.68784852C>G | CA381632749 | CPT1A | c.1126G>C (p.Gly376Arg) c.1222G>C (p.Gly408Arg) | gnomAD v4 |
| 11 | g.68784852C>T | CA6152410 | CPT1A | c.1126G>A (p.Gly376Arg) c.1222G>A (p.Gly408Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68784853G>A | CA6152411 | CPT1A | c.1125C>T (p.Pro375=) c.1221C>T (p.Pro407=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68784853G>C | CA475196764 | CPT1A | c.1125C>G (p.Pro375=) c.1221C>G (p.Pro407=) | dbSNP |
| 11 | g.68784853G>T | CA475196766 | CPT1A | c.1125C>A (p.Pro375=) c.1221C>A (p.Pro407=) | gnomAD v4 |