UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68759502_68759503del | CA2614740175 | CPT1A | c.2235+69_2235+70del (n.2235+69_2235+70del) c.2331+69_2331+70del (n.2331+69_2331+70del) | gnomAD v4 |
| 11 | g.68759501T>G | CA2614740178 | CPT1A | c.2235+68A>C (n.2235+68A>C) c.2331+68A>C (n.2331+68A>C) | dbSNP gnomAD v4 |
| 11 | g.68759502G>A | CA939164657 | CPT1A | c.2235+67C>T (n.2235+67C>T) c.2331+67C>T (n.2331+67C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759502G>T | CA2614740180 | CPT1A | c.2235+67C>A (n.2235+67C>A) c.2331+67C>A (n.2331+67C>A) | gnomAD v4 |
| 11 | g.68759503T>C | CA2614740182 | CPT1A | c.2235+66A>G (n.2235+66A>G) c.2331+66A>G (n.2331+66A>G) | gnomAD v4 |
| 11 | g.68759505T>A | CA223365625 | CPT1A | c.2235+64A>T (n.2235+64A>T) c.2331+64A>T (n.2331+64A>T) | dbSNP |
| 11 | g.68759508T>C | CA2614740185 | CPT1A | c.2235+61A>G (n.2235+61A>G) c.2331+61A>G (n.2331+61A>G) | gnomAD v4 |
| 11 | g.68759508T>G | CA679630347 | CPT1A | c.2235+61A>C (n.2235+61A>C) c.2331+61A>C (n.2331+61A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759509T>C | CA939164659 | CPT1A | c.2235+60A>G (n.2235+60A>G) c.2331+60A>G (n.2331+60A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759510A>T | CA2574903032 | CPT1A | c.2235+59T>A (n.2235+59T>A) c.2331+59T>A (n.2331+59T>A) | gnomAD v4 |
| 11 | g.68759511A>C | CA223365628 | CPT1A | c.2235+58T>G (n.2235+58T>G) c.2331+58T>G (n.2331+58T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759512A>G | CA2614740191 | CPT1A | c.2235+57T>C (n.2235+57T>C) c.2331+57T>C (n.2331+57T>C) | gnomAD v4 |
| 11 | g.68759514A>G | CA2574903033 | CPT1A | c.2235+55T>C (n.2235+55T>C) c.2331+55T>C (n.2331+55T>C) | |
| 11 | g.68759515G>A | CA223365630 | CPT1A | c.2235+54C>T (n.2235+54C>T) c.2331+54C>T (n.2331+54C>T) | dbSNP |
| 11 | g.68759515G>C | CA2792552356 | CPT1A | c.2235+54C>G (n.2235+54C>G) c.2331+54C>G (n.2331+54C>G) | |
| 11 | g.68759515G>T | CA223365632 | CPT1A | c.2235+54C>A (n.2235+54C>A) c.2331+54C>A (n.2331+54C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759517A>G | CA679630349 | CPT1A | c.2235+52T>C (n.2235+52T>C) c.2331+52T>C (n.2331+52T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759518T>C | CA2614740193 | CPT1A | c.2235+51A>G (n.2235+51A>G) c.2331+51A>G (n.2331+51A>G) | gnomAD v4 |
| 11 | g.68759521del | CA939164670 | CPT1A | c.2235+50del (n.2235+50del) c.2331+50del (n.2331+50del) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759520A>C | CA2614740194 | CPT1A | c.2235+49T>G (n.2235+49T>G) c.2331+49T>G (n.2331+49T>G) | gnomAD v4 |
| 11 | g.68759520A>T | CA2574903034 | CPT1A | c.2235+49T>A (n.2235+49T>A) c.2331+49T>A (n.2331+49T>A) | |
| 11 | g.68759522G>A | CA223365635 | CPT1A | c.2235+47C>T (n.2235+47C>T) c.2331+47C>T (n.2331+47C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759522G>T | CA2614740197 | CPT1A | c.2235+47C>A (n.2235+47C>A) c.2331+47C>A (n.2331+47C>A) | gnomAD v4 |
| 11 | g.68759523C>A | CA2614740201 | CPT1A | c.2235+46G>T (n.2235+46G>T) c.2331+46G>T (n.2331+46G>T) | gnomAD v4 |
| 11 | g.68759525A>G | CA2724352226 | CPT1A | c.2235+44T>C (n.2235+44T>C) c.2331+44T>C (n.2331+44T>C) | dbSNP |
| 11 | g.68759531C>A | CA6152036 | CPT1A | c.2235+38G>T (n.2235+38G>T) c.2331+38G>T (n.2331+38G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759534del | CA599985058 | CPT1A | c.2235+38del (n.2235+38del) c.2331+38del (n.2331+38del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759533C>T | CA2614740209 | CPT1A | c.2235+36G>A (n.2235+36G>A) c.2331+36G>A (n.2331+36G>A) | gnomAD v4 |
| 11 | g.68759541A>G | CA939164682 | CPT1A | c.2235+28T>C (n.2235+28T>C) c.2331+28T>C (n.2331+28T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759541A>T | CA2614740212 | CPT1A | c.2235+28T>A (n.2235+28T>A) c.2331+28T>A (n.2331+28T>A) | gnomAD v4 |
| 11 | g.68759542G>A | CA6152037 | CPT1A | c.2235+27C>T (n.2235+27C>T) c.2331+27C>T (n.2331+27C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759542G>C | CA2614740217 | CPT1A | c.2235+27C>G (n.2235+27C>G) c.2331+27C>G (n.2331+27C>G) | gnomAD v4 |
| 11 | g.68759542G>T | CA2614740215 | CPT1A | c.2235+27C>A (n.2235+27C>A) c.2331+27C>A (n.2331+27C>A) | gnomAD v4 |
| 11 | g.68759543A>G | CA2574903035 | CPT1A | c.2235+26T>C (n.2235+26T>C) c.2331+26T>C (n.2331+26T>C) | |
| 11 | g.68759547dup | CA2792552357 | CPT1A | c.2235+26dup (n.2235+26dup) c.2331+26dup (n.2331+26dup) | |
| 11 | g.68759544A>C | CA2724352229 | CPT1A | c.2235+25T>G (n.2235+25T>G) c.2331+25T>G (n.2331+25T>G) | dbSNP |
| 11 | g.68759545A>T | CA2614740218 | CPT1A | c.2235+24T>A (n.2235+24T>A) c.2331+24T>A (n.2331+24T>A) | gnomAD v4 |
| 11 | g.68759547A>G | CA939164704 | CPT1A | c.2235+22T>C (n.2235+22T>C) c.2331+22T>C (n.2331+22T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759548G>T | CA939164706 | CPT1A | c.2235+21C>A (n.2235+21C>A) c.2331+21C>A (n.2331+21C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759549G>A | CA599985061 | CPT1A | c.2235+20C>T (n.2235+20C>T) c.2331+20C>T (n.2331+20C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68759549G>T | CA2614740220 | CPT1A | c.2235+20C>A (n.2235+20C>A) c.2331+20C>A (n.2331+20C>A) | ClinVar gnomAD v4 |
| 11 | g.68759553T>C | CA2574903036 | CPT1A | c.2235+16A>G (n.2235+16A>G) c.2331+16A>G (n.2331+16A>G) | ClinVar gnomAD v4 |
| 11 | g.68759554T>G | CA2697548777 | CPT1A | c.2235+15A>C (n.2235+15A>C) c.2331+15A>C (n.2331+15A>C) | ClinVar |
| 11 | g.68759555C>A | CA679630354 | CPT1A | c.2235+14G>T (n.2235+14G>T) c.2331+14G>T (n.2331+14G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759555C>T | CA6152038 | CPT1A | c.2235+14G>A (n.2235+14G>A) c.2331+14G>A (n.2331+14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759560C>T | CA1139662066 | CPT1A | c.2235+9G>A (n.2235+9G>A) c.2331+9G>A (n.2331+9G>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68759561A>G | CA2740093090 | CPT1A | c.2235+8T>C (n.2235+8T>C) c.2331+8T>C (n.2331+8T>C) | ClinVar |
| 11 | g.68759562T>C | CA2724352230 | CPT1A | c.2235+7A>G (n.2235+7A>G) c.2331+7A>G (n.2331+7A>G) | dbSNP |
| 11 | g.68759563A>G | CA2614740233 | CPT1A | c.2235+6T>C (n.2235+6T>C) c.2331+6T>C (n.2331+6T>C) | gnomAD v4 |
| 11 | g.68759564C>T | CA6152039 | CPT1A | c.2235+5G>A (n.2235+5G>A) c.2331+5G>A (n.2331+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759565A>G | CA6152040 | CPT1A | c.2235+4T>C (n.2235+4T>C) c.2331+4T>C (n.2331+4T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759565A>T | CA2517596326 | CPT1A | c.2235+4T>A (n.2235+4T>A) c.2331+4T>A (n.2331+4T>A) | |
| 11 | g.68759566T>C | CA2614740237 | CPT1A | c.2235+3A>G (n.2235+3A>G) c.2331+3A>G (n.2331+3A>G) | gnomAD v4 |
| 11 | g.68759567A>C | CA381625330 | CPT1A | c.2235+2T>G (n.2235+2T>G) c.2331+2T>G (n.2331+2T>G) | |
| 11 | g.68759567A>G | CA381625331 | CPT1A | c.2235+2T>C (n.2235+2T>C) c.2331+2T>C (n.2331+2T>C) | gnomAD v4 |
| 11 | g.68759567A>T | CA381625334 | CPT1A | c.2235+2T>A (n.2235+2T>A) c.2331+2T>A (n.2331+2T>A) | |
| 11 | g.68759568C>A | CA381625336 | CPT1A | c.2235+1G>T (n.2235+1G>T) c.2331+1G>T (n.2331+1G>T) | |
| 11 | g.68759568C>G | CA381625338 | CPT1A | c.2235+1G>C (n.2235+1G>C) c.2331+1G>C (n.2331+1G>C) | |
| 11 | g.68759568C>T | CA381625340 | CPT1A | c.2235+1G>A (n.2235+1G>A) c.2331+1G>A (n.2331+1G>A) | gnomAD v4 |
| 11 | g.68759569C>A | CA475181611 | CPT1A | c.2235G>T (p.Thr745=) c.2331G>T (p.Thr777=) | |
| 11 | g.68759569C>G | CA475181612 | CPT1A | c.2235G>C (p.Thr745=) c.2331G>C (p.Thr777=) | |
| 11 | g.68759569C>T | CA6152041 | CPT1A | c.2235G>A (p.Thr745=) c.2331G>A (p.Thr777=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759570G>A | CA6152042 | CPT1A | c.2234C>T (p.Thr745Met) c.2330C>T (p.Thr777Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.68759570G>C | CA381625350 | CPT1A | c.2234C>G (p.Thr745Arg) c.2330C>G (p.Thr777Arg) | |
| 11 | g.68759570G>T | CA381625345 | CPT1A | c.2234C>A (p.Thr745Lys) c.2330C>A (p.Thr777Lys) | gnomAD v4 |
| 11 | g.68759571T>A | CA381625357 | CPT1A | c.2233A>T (p.Thr745Ser) c.2329A>T (p.Thr777Ser) | |
| 11 | g.68759571T>C | CA381625353 | CPT1A | c.2233A>G (p.Thr745Ala) c.2329A>G (p.Thr777Ala) | |
| 11 | g.68759571T>G | CA381625355 | CPT1A | c.2233A>C (p.Thr745Pro) c.2329A>C (p.Thr777Pro) | |
| 11 | g.68759572C>A | CA381625359 | CPT1A | c.2232G>T (p.Glu744Asp) c.2328G>T (p.Glu776Asp) | |
| 11 | g.68759572C>G | CA381625361 | CPT1A | c.2232G>C (p.Glu744Asp) c.2328G>C (p.Glu776Asp) | |
| 11 | g.68759572C>T | CA475181613 | CPT1A | c.2232G>A (p.Glu744=) c.2328G>A (p.Glu776=) | |
| 11 | g.68759573T>A | CA381625364 | CPT1A | c.2231A>T (p.Glu744Val) c.2327A>T (p.Glu776Val) | |
| 11 | g.68759573T>C | CA381625367 | CPT1A | c.2231A>G (p.Glu744Gly) c.2327A>G (p.Glu776Gly) | |
| 11 | g.68759573T>G | CA381625369 | CPT1A | c.2231A>C (p.Glu744Ala) c.2327A>C (p.Glu776Ala) | |
| 11 | g.68759574C>A | CA381625372 | CPT1A | c.2230G>T (p.Glu744Ter) c.2326G>T (p.Glu776Ter) | |
| 11 | g.68759574C>G | CA381625374 | CPT1A | c.2230G>C (p.Glu744Gln) c.2326G>C (p.Glu776Gln) | |
| 11 | g.68759574C>T | CA381625376 | CPT1A | c.2230G>A (p.Glu744Lys) c.2326G>A (p.Glu776Lys) | COSMIC |
| 11 | g.68759575A>C | CA475181614 | CPT1A | c.2229T>G (p.Pro743=) c.2325T>G (p.Pro775=) | |
| 11 | g.68759575A>G | CA475181615 | CPT1A | c.2229T>C (p.Pro743=) c.2325T>C (p.Pro775=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68759575A>T | CA475181616 | CPT1A | c.2229T>A (p.Pro743=) c.2325T>A (p.Pro775=) | |
| 11 | g.68759576G>A | CA381625379 | CPT1A | c.2228C>T (p.Pro743Leu) c.2324C>T (p.Pro775Leu) | gnomAD v4 |
| 11 | g.68759576G>C | CA381625381 | CPT1A | c.2228C>G (p.Pro743Arg) c.2324C>G (p.Pro775Arg) | |
| 11 | g.68759576G>T | CA381625383 | CPT1A | c.2228C>A (p.Pro743His) c.2324C>A (p.Pro775His) | |
| 11 | g.68759577_68759608del | CA645575722 | CPT1A | c.2197_2228del (p.Asn733Ter) c.2293_2324del (p.Asn765Ter) | COSMIC |
| 11 | g.68759577G>A | CA381625390 | CPT1A | c.2227C>T (p.Pro743Ser) c.2323C>T (p.Pro775Ser) | |
| 11 | g.68759577G>C | CA381625386 | CPT1A | c.2227C>G (p.Pro743Ala) c.2323C>G (p.Pro775Ala) | |
| 11 | g.68759577G>T | CA6152043 | CPT1A | c.2227C>A (p.Pro743Thr) c.2323C>A (p.Pro775Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68759578G>A | CA475181617 | CPT1A | c.2226C>T (p.Cys742=) c.2322C>T (p.Cys774=) | |
| 11 | g.68759578G>C | CA381625391 | CPT1A | c.2226C>G (p.Cys742Trp) c.2322C>G (p.Cys774Trp) | |
| 11 | g.68759578G>T | CA223365650 | CPT1A | c.2226C>A (p.Cys742Ter) c.2322C>A (p.Cys774Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68759579C>A | CA381625395 | CPT1A | c.2225G>T (p.Cys742Phe) c.2321G>T (p.Cys774Phe) | dbSNP |
| 11 | g.68759579C>G | CA381625398 | CPT1A | c.2225G>C (p.Cys742Ser) c.2321G>C (p.Cys774Ser) | |
| 11 | g.68759579C>T | CA381625400 | CPT1A | c.2225G>A (p.Cys742Tyr) c.2321G>A (p.Cys774Tyr) | |
| 11 | g.68759580A>C | CA381625403 | CPT1A | c.2224T>G (p.Cys742Gly) c.2320T>G (p.Cys774Gly) | |
| 11 | g.68759580A>G | CA381625405 | CPT1A | c.2224T>C (p.Cys742Arg) c.2320T>C (p.Cys774Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759580A>T | CA381625406 | CPT1A | c.2224T>A (p.Cys742Ser) c.2320T>A (p.Cys774Ser) | |
| 11 | g.68759581A>C | CA475181618 | CPT1A | c.2223T>G (p.Ser741=) c.2319T>G (p.Ser773=) | |
| 11 | g.68759581A>G | CA223365653 | CPT1A | c.2223T>C (p.Ser741=) c.2319T>C (p.Ser773=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68759581A>T | CA475181619 | CPT1A | c.2223T>A (p.Ser741=) c.2319T>A (p.Ser773=) | |
| 11 | g.68759582G>A | CA381625410 | CPT1A | c.2222C>T (p.Ser741Phe) c.2318C>T (p.Ser773Phe) | gnomAD v4 |
| 11 | g.68759582G>C | CA381625411 | CPT1A | c.2222C>G (p.Ser741Cys) c.2318C>G (p.Ser773Cys) | |
| 11 | g.68759582G>T | CA381625414 | CPT1A | c.2222C>A (p.Ser741Tyr) c.2318C>A (p.Ser773Tyr) | |
| 11 | g.68759583A>C | CA381625422 | CPT1A | c.2221T>G (p.Ser741Ala) c.2317T>G (p.Ser773Ala) | |
| 11 | g.68759583A>G | CA381625419 | CPT1A | c.2221T>C (p.Ser741Pro) c.2317T>C (p.Ser773Pro) | |
| 11 | g.68759583A>T | CA381625417 | CPT1A | c.2221T>A (p.Ser741Thr) c.2317T>A (p.Ser773Thr) | |
| 11 | g.68759584G>A | CA475181620 | CPT1A | c.2220C>T (p.Phe740=) c.2316C>T (p.Phe772=) | |
| 11 | g.68759584G>C | CA381625424 | CPT1A | c.2220C>G (p.Phe740Leu) c.2316C>G (p.Phe772Leu) | |
| 11 | g.68759584G>T | CA381625426 | CPT1A | c.2220C>A (p.Phe740Leu) c.2316C>A (p.Phe772Leu) | dbSNP |
| 11 | g.68759585A>C | CA381625430 | CPT1A | c.2219T>G (p.Phe740Cys) c.2315T>G (p.Phe772Cys) | |
| 11 | g.68759585A>G | CA381625432 | CPT1A | c.2219T>C (p.Phe740Ser) c.2315T>C (p.Phe772Ser) | COSMIC COSMIC |
| 11 | g.68759585A>T | CA381625434 | CPT1A | c.2219T>A (p.Phe740Tyr) c.2315T>A (p.Phe772Tyr) | |
| 11 | g.68759586A>C | CA381625437 | CPT1A | c.2218T>G (p.Phe740Val) c.2314T>G (p.Phe772Val) | |
| 11 | g.68759586A>G | CA381625439 | CPT1A | c.2218T>C (p.Phe740Leu) c.2314T>C (p.Phe772Leu) | |
| 11 | g.68759586A>T | CA381625441 | CPT1A | c.2218T>A (p.Phe740Ile) c.2314T>A (p.Phe772Ile) | |
| 11 | g.68759587C>A | CA381625444 | CPT1A | c.2217G>T (p.Lys739Asn) c.2313G>T (p.Lys771Asn) | |
| 11 | g.68759587C>G | CA381625446 | CPT1A | c.2217G>C (p.Lys739Asn) c.2313G>C (p.Lys771Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759587C>T | CA475181621 | CPT1A | c.2217G>A (p.Lys739=) c.2313G>A (p.Lys771=) | |
| 11 | g.68759588T>A | CA381625448 | CPT1A | c.2216A>T (p.Lys739Met) c.2312A>T (p.Lys771Met) | |
| 11 | g.68759588T>C | CA381625450 | CPT1A | c.2216A>G (p.Lys739Arg) c.2312A>G (p.Lys771Arg) | |
| 11 | g.68759588T>G | CA381625453 | CPT1A | c.2216A>C (p.Lys739Thr) c.2312A>C (p.Lys771Thr) | gnomAD v4 |
| 11 | g.68759589T>A | CA381625459 | CPT1A | c.2215A>T (p.Lys739Ter) c.2311A>T (p.Lys771Ter) | |
| 11 | g.68759589T>C | CA6152044 | CPT1A | c.2215A>G (p.Lys739Glu) c.2311A>G (p.Lys771Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759589T>G | CA381625457 | CPT1A | c.2215A>C (p.Lys739Gln) c.2311A>C (p.Lys771Gln) | dbSNP gnomAD v2 |
| 11 | g.68759590G>A | CA475181622 | CPT1A | c.2214C>T (p.Ser738=) c.2310C>T (p.Ser770=) | |
| 11 | g.68759590G>C | CA475181624 | CPT1A | c.2214C>G (p.Ser738=) c.2310C>G (p.Ser770=) | gnomAD v4 |
| 11 | g.68759590G>T | CA475181623 | CPT1A | c.2214C>A (p.Ser738=) c.2310C>A (p.Ser770=) | |
| 11 | g.68759591G>A | CA381625462 | CPT1A | c.2213C>T (p.Ser738Phe) c.2309C>T (p.Ser770Phe) | |
| 11 | g.68759591G>C | CA381625464 | CPT1A | c.2213C>G (p.Ser738Cys) c.2309C>G (p.Ser770Cys) | |
| 11 | g.68759591G>T | CA381625466 | CPT1A | c.2213C>A (p.Ser738Tyr) c.2309C>A (p.Ser770Tyr) | |
| 11 | g.68759592A>C | CA381625468 | CPT1A | c.2212T>G (p.Ser738Ala) c.2308T>G (p.Ser770Ala) | |
| 11 | g.68759592A>G | CA381625470 | CPT1A | c.2212T>C (p.Ser738Pro) c.2308T>C (p.Ser770Pro) | |
| 11 | g.68759592A>T | CA381625473 | CPT1A | c.2212T>A (p.Ser738Thr) c.2308T>A (p.Ser770Thr) | |
| 11 | g.68759593A>C | CA475181625 | CPT1A | c.2211T>G (p.Ser737=) c.2307T>G (p.Ser769=) | |
| 11 | g.68759593A>G | CA475181626 | CPT1A | c.2211T>C (p.Ser737=) c.2307T>C (p.Ser769=) | gnomAD v4 |
| 11 | g.68759593A>T | CA475181627 | CPT1A | c.2211T>A (p.Ser737=) c.2307T>A (p.Ser769=) | |
| 11 | g.68759594G>A | CA381625476 | CPT1A | c.2210C>T (p.Ser737Phe) c.2306C>T (p.Ser769Phe) | |
| 11 | g.68759594G>C | CA381625478 | CPT1A | c.2210C>G (p.Ser737Cys) c.2306C>G (p.Ser769Cys) | |
| 11 | g.68759594G>T | CA381625480 | CPT1A | c.2210C>A (p.Ser737Tyr) c.2306C>A (p.Ser769Tyr) | |
| 11 | g.68759595A>C | CA381625483 | CPT1A | c.2209T>G (p.Ser737Ala) c.2305T>G (p.Ser769Ala) | |
| 11 | g.68759595A>G | CA381625486 | CPT1A | c.2209T>C (p.Ser737Pro) c.2305T>C (p.Ser769Pro) | |
| 11 | g.68759595A>T | CA381625488 | CPT1A | c.2209T>A (p.Ser737Thr) c.2305T>A (p.Ser769Thr) | |
| 11 | g.68759596A>C | CA381625491 | CPT1A | c.2208T>G (p.Ile736Met) c.2304T>G (p.Ile768Met) | |
| 11 | g.68759596A>G | CA475181628 | CPT1A | c.2208T>C (p.Ile736=) c.2304T>C (p.Ile768=) | |
| 11 | g.68759596A>T | CA475181629 | CPT1A | c.2208T>A (p.Ile736=) c.2304T>A (p.Ile768=) | |
| 11 | g.68759597A>C | CA381625492 | CPT1A | c.2207T>G (p.Ile736Ser) c.2303T>G (p.Ile768Ser) | |
| 11 | g.68759597A>G | CA381625493 | CPT1A | c.2207T>C (p.Ile736Thr) c.2303T>C (p.Ile768Thr) | |
| 11 | g.68759597A>T | CA223365659 | CPT1A | c.2207T>A (p.Ile736Asn) c.2303T>A (p.Ile768Asn) | dbSNP |
| 11 | g.68759598T>A | CA381625499 | CPT1A | c.2206A>T (p.Ile736Phe) c.2302A>T (p.Ile768Phe) | |
| 11 | g.68759598T>C | CA6152045 | CPT1A | c.2206A>G (p.Ile736Val) c.2302A>G (p.Ile768Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68759598T>G | CA381625497 | CPT1A | c.2206A>C (p.Ile736Leu) c.2302A>C (p.Ile768Leu) | |
| 11 | g.68759599G>A | CA475181630 | CPT1A | c.2205C>T (p.His735=) c.2301C>T (p.His767=) | ClinVar dbSNP |
| 11 | g.68759599G>C | CA381625502 | CPT1A | c.2205C>G (p.His735Gln) c.2301C>G (p.His767Gln) | |
| 11 | g.68759599G>T | CA381625504 | CPT1A | c.2205C>A (p.His735Gln) c.2301C>A (p.His767Gln) | |
| 11 | g.68759600T>A | CA381625506 | CPT1A | c.2204A>T (p.His735Leu) c.2300A>T (p.His767Leu) | |
| 11 | g.68759600T>C | CA381625508 | CPT1A | c.2204A>G (p.His735Arg) c.2300A>G (p.His767Arg) | dbSNP |
| 11 | g.68759600T>G | CA381625510 | CPT1A | c.2204A>C (p.His735Pro) c.2300A>C (p.His767Pro) | |
| 11 | g.68759601G>A | CA381625515 | CPT1A | c.2203C>T (p.His735Tyr) c.2299C>T (p.His767Tyr) | |
| 11 | g.68759601G>C | CA223365665 | CPT1A | c.2203C>G (p.His735Asp) c.2299C>G (p.His767Asp) | dbSNP |
| 11 | g.68759601G>T | CA381625513 | CPT1A | c.2203C>A (p.His735Asn) c.2299C>A (p.His767Asn) |