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 |
|---|---|---|---|---|---|
| 1 | g.119764209G>A | CA420187347 | HMGCS2 | c.522C>T (p.Phe174=) n.418C>T | |
| 1 | g.119764209G>C | CA341864203 | HMGCS2 | c.522C>G (p.Phe174Leu) n.418C>G | |
| 1 | g.119764209G>T | CA341864207 | HMGCS2 | c.522C>A (p.Phe174Leu) n.418C>A | gnomAD v4 |
| 1 | g.119764210A>C | CA341864218 | HMGCS2 | c.521T>G (p.Phe174Cys) n.417T>G | |
| 1 | g.119764210A>G | CA341864222 | HMGCS2 | c.521T>C (p.Phe174Ser) n.417T>C | gnomAD v4 |
| 1 | g.119764210A>T | CA341864224 | HMGCS2 | c.521T>A (p.Phe174Tyr) n.417T>A | |
| 1 | g.119764211A= | CA1141581020 | HMGCS2 | c.520T= (p.Phe174=) n.416T= | |
| 1 | g.119764211A>C | CA341864227 | HMGCS2 | c.520T>G (p.Phe174Val) n.416T>G | |
| 1 | g.119764211A>G | CA120247 | HMGCS2 | c.520T>C (p.Phe174Leu) n.416T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.119764211A>T | CA341864230 | HMGCS2 | c.520T>A (p.Phe174Ile) n.416T>A | |
| 1 | g.119764212G>A | CA420187356 | HMGCS2 | c.519C>T (p.Leu173=) n.415C>T | |
| 1 | g.119764212G>C | CA30274905 | HMGCS2 | c.519C>G (p.Leu173=) n.415C>G | dbSNP |
| 1 | g.119764212G= | CA1192444962 | HMGCS2 | c.519C= (p.Leu173=) n.415C= | |
| 1 | g.119764212G>T | CA420187358 | HMGCS2 | c.519C>A (p.Leu173=) n.415C>A | |
| 1 | g.119764213A= | CA1192444963 | HMGCS2 | c.518T= (p.Leu173=) n.414T= | |
| 1 | g.119764213A>C | CA341864265 | HMGCS2 | c.518T>G (p.Leu173Arg) n.414T>G | |
| 1 | g.119764213A>G | CA341864274 | HMGCS2 | c.518T>C (p.Leu173Pro) n.414T>C | dbSNP gnomAD v4 |
| 1 | g.119764213A>T | CA341864277 | HMGCS2 | c.518T>A (p.Leu173His) n.414T>A | |
| 1 | g.119764214G>A | CA1037878 | HMGCS2 | c.517C>T (p.Leu173Phe) n.413C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.119764214G>C | CA341864294 | HMGCS2 | c.517C>G (p.Leu173Val) n.413C>G | |
| 1 | g.119764214G= | CA1192444964 | HMGCS2 | c.517C= (p.Leu173=) n.413C= | |
| 1 | g.119764214G>T | CA341864298 | HMGCS2 | c.517C>A (p.Leu173Ile) n.413C>A | |
| 1 | g.119764216del | CA2647400392 | HMGCS2 | c.517del (p.Leu173SerfsTer?) n.413del c.517del (p.Leu173SerfsTer16) | gnomAD v4 |
| 1 | g.119764215G>A | CA420187363 | HMGCS2 | c.516C>T (p.Ser172=) n.412C>T | |
| 1 | g.119764215G>C | CA420187368 | HMGCS2 | c.516C>G (p.Ser172=) n.412C>G | |
| 1 | g.119764215G>T | CA420187365 | HMGCS2 | c.516C>A (p.Ser172=) n.412C>A | |
| 1 | g.119764216G>A | CA30274921 | HMGCS2 | c.515C>T (p.Ser172Phe) n.411C>T | dbSNP gnomAD v4 |
| 1 | g.119764216G>C | CA341864302 | HMGCS2 | c.515C>G (p.Ser172Cys) n.411C>G | |
| 1 | g.119764216G= | CA1192444965 | HMGCS2 | c.515C= (p.Ser172=) n.411C= | |
| 1 | g.119764216G>T | CA341864304 | HMGCS2 | c.515C>A (p.Ser172Tyr) n.411C>A | |
| 1 | g.119764217A>C | CA341864307 | HMGCS2 | c.514T>G (p.Ser172Ala) n.410T>G | |
| 1 | g.119764217A>G | CA341864308 | HMGCS2 | c.514T>C (p.Ser172Pro) n.410T>C | |
| 1 | g.119764217A>T | CA341864311 | HMGCS2 | c.514T>A (p.Ser172Thr) n.410T>A | gnomAD v4 |
| 1 | g.119764218G>A | CA420187371 | HMGCS2 | c.513C>T (p.Ala171=) n.409C>T | gnomAD v4 |
| 1 | g.119764218G>C | CA420187375 | HMGCS2 | c.513C>G (p.Ala171=) n.409C>G | |
| 1 | g.119764218G>T | CA420187384 | HMGCS2 | c.513C>A (p.Ala171=) n.409C>A | |
| 1 | g.119764219G>A | CA341864330 | HMGCS2 | c.512C>T (p.Ala171Val) n.408C>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.119764219G>C | CA341864315 | HMGCS2 | c.512C>G (p.Ala171Gly) n.408C>G | |
| 1 | g.119764219G= | CA1192444966 | HMGCS2 | c.512C= (p.Ala171=) n.408C= | |
| 1 | g.119764219G>T | CA341864319 | HMGCS2 | c.512C>A (p.Ala171Asp) n.408C>A | dbSNP |
| 1 | g.119764220C>A | CA341864333 | HMGCS2 | c.511G>T (p.Ala171Ser) n.407G>T | gnomAD v4 |
| 1 | g.119764220C= | CA1192444967 | HMGCS2 | c.511G= (p.Ala171=) n.407G= | |
| 1 | g.119764220C>G | CA341864338 | HMGCS2 | c.511G>C (p.Ala171Pro) n.407G>C | |
| 1 | g.119764220C>T | CA341864341 | HMGCS2 | c.511G>A (p.Ala171Thr) n.407G>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.119764221A= | CA1192444968 | HMGCS2 | c.510T= (p.Thr170=) n.406T= | |
| 1 | g.119764221A>C | CA420187391 | HMGCS2 | c.510T>G (p.Thr170=) n.406T>G | |
| 1 | g.119764221A>G | CA420187392 | HMGCS2 | c.510T>C (p.Thr170=) n.406T>C | |
| 1 | g.119764221A>T | CA420187394 | HMGCS2 | c.510T>A (p.Thr170=) n.406T>A | dbSNP |
| 1 | g.119764222G>A | CA1037879 | HMGCS2 | c.509C>T (p.Thr170Ile) n.405C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.119764222G>C | CA341864350 | HMGCS2 | c.509C>G (p.Thr170Ser) n.405C>G | |
| 1 | g.119764222G= | CA1192444969 | HMGCS2 | c.509C= (p.Thr170=) n.405C= | |
| 1 | g.119764222G>T | CA341864362 | HMGCS2 | c.509C>A (p.Thr170Asn) n.405C>A | |
| 1 | g.119764223T>A | CA341864365 | HMGCS2 | c.508A>T (p.Thr170Ser) n.404A>T | |
| 1 | g.119764223T>C | CA341864367 | HMGCS2 | c.508A>G (p.Thr170Ala) n.404A>G | |
| 1 | g.119764223T>G | CA341864369 | HMGCS2 | c.508A>C (p.Thr170Pro) n.404A>C | |
| 1 | g.119764224A= | CA1192444970 | HMGCS2 | c.507T= (p.Gly169=) n.403T= | |
| 1 | g.119764224A>C | CA420187401 | HMGCS2 | c.507T>G (p.Gly169=) n.403T>G | |
| 1 | g.119764224A>G | CA420187402 | HMGCS2 | c.507T>C (p.Gly169=) n.403T>C | dbSNP |
| 1 | g.119764224A>T | CA420187403 | HMGCS2 | c.507T>A (p.Gly169=) n.403T>A | |
| 1 | g.119764225C>A | CA341864375 | HMGCS2 | c.506G>T (p.Gly169Val) n.402G>T | |
| 1 | g.119764225C= | CA1192444971 | HMGCS2 | c.506G= (p.Gly169=) n.402G= | |
| 1 | g.119764225C>G | CA341864382 | HMGCS2 | c.506G>C (p.Gly169Ala) n.402G>C | |
| 1 | g.119764225C>T | CA341864384 | HMGCS2 | c.506G>A (p.Gly169Asp) n.402G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.119764226C>A | CA341864385 | HMGCS2 | c.505G>T (p.Gly169Cys) n.401G>T | |
| 1 | g.119764226C>G | CA341864390 | HMGCS2 | c.505G>C (p.Gly169Arg) n.401G>C | |
| 1 | g.119764226C>T | CA341864388 | HMGCS2 | c.505G>A (p.Gly169Ser) n.401G>A | |
| 1 | g.119764227A= | CA1192444972 | HMGCS2 | c.504T= (p.Gly168=) n.400T= | |
| 1 | g.119764227A>C | CA420187462 | HMGCS2 | c.504T>G (p.Gly168=) n.400T>G | |
| 1 | g.119764227A>G | CA420187463 | HMGCS2 | c.504T>C (p.Gly168=) n.400T>C | dbSNP |
| 1 | g.119764227A>T | CA420187464 | HMGCS2 | c.504T>A (p.Gly168=) n.400T>A | gnomAD v4 |
| 1 | g.119764228C>A | CA341864392 | HMGCS2 | c.503G>T (p.Gly168Val) n.399G>T | |
| 1 | g.119764228C>G | CA341864406 | HMGCS2 | c.503G>C (p.Gly168Ala) n.399G>C | |
| 1 | g.119764228C>T | CA341864396 | HMGCS2 | c.503G>A (p.Gly168Asp) n.399G>A | gnomAD v4 |
| 1 | g.119764229C>A | CA341864408 | HMGCS2 | c.502G>T (p.Gly168Cys) n.398G>T | gnomAD v4 |
| 1 | g.119764229C= | CA1148294183 | HMGCS2 | c.502G= (p.Gly168=) n.398G= | |
| 1 | g.119764229C>G | CA341864413 | HMGCS2 | c.502G>C (p.Gly168Arg) n.398G>C | |
| 1 | g.119764229C>T | CA1037880 | HMGCS2 | c.502G>A (p.Gly168Ser) n.398G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.119764230G>A | CA1037881 | HMGCS2 | c.501C>T (p.Tyr167=) n.397C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.119764230G>C | CA341864435 | HMGCS2 | c.501C>G (p.Tyr167Ter) n.397C>G | |
| 1 | g.119764230G= | CA1192444973 | HMGCS2 | c.501C= (p.Tyr167=) n.397C= | |
| 1 | g.119764230G>T | CA341864440 | HMGCS2 | c.501C>A (p.Tyr167Ter) n.397C>A | |
| 1 | g.119764231T>A | CA341864446 | HMGCS2 | c.500A>T (p.Tyr167Phe) n.396A>T | |
| 1 | g.119764231T>C | CA120266 | HMGCS2 | c.500A>G (p.Tyr167Cys) n.396A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.119764231T>G | CA341864447 | HMGCS2 | c.500A>C (p.Tyr167Ser) n.396A>C | |
| 1 | g.119764231T= | CA1141581021 | HMGCS2 | c.500A= (p.Tyr167=) n.396A= | |
| 1 | g.119764232A>C | CA341864449 | HMGCS2 | c.499T>G (p.Tyr167Asp) n.395T>G | |
| 1 | g.119764232A>G | CA341864450 | HMGCS2 | c.499T>C (p.Tyr167His) n.395T>C | |
| 1 | g.119764232A>T | CA341864451 | HMGCS2 | c.499T>A (p.Tyr167Asn) n.395T>A | |
| 1 | g.119764233G>A | CA420187478 | HMGCS2 | c.498C>T (p.Cys166=) n.394C>T | dbSNP |
| 1 | g.119764233G>C | CA341864455 | HMGCS2 | c.498C>G (p.Cys166Trp) n.394C>G | |
| 1 | g.119764233G= | CA1192444974 | HMGCS2 | c.498C= (p.Cys166=) n.394C= | |
| 1 | g.119764233G>T | CA341864452 | HMGCS2 | c.498C>A (p.Cys166Ter) n.394C>A | dbSNP |
| 1 | g.119764234C>A | CA341864461 | HMGCS2 | c.497G>T (p.Cys166Phe) n.393G>T | COSMIC |
| 1 | g.119764234C>G | CA341864466 | HMGCS2 | c.497G>C (p.Cys166Ser) n.393G>C | |
| 1 | g.119764234C>T | CA341864468 | HMGCS2 | c.497G>A (p.Cys166Tyr) n.393G>A | |
| 1 | g.119764235A= | CA1192444975 | HMGCS2 | c.496T= (p.Cys166=) n.392T= | |
| 1 | g.119764235A>C | CA341864470 | HMGCS2 | c.496T>G (p.Cys166Gly) n.392T>G | dbSNP gnomAD v4 |
| 1 | g.119764235A>G | CA341864472 | HMGCS2 | c.496T>C (p.Cys166Arg) n.392T>C | |
| 1 | g.119764235A>T | CA341864480 | HMGCS2 | c.496T>A (p.Cys166Ser) n.392T>A | |
| 1 | g.119764236G>A | CA420187482 | HMGCS2 | c.495C>T (p.Ala165=) n.391C>T | |
| 1 | g.119764236G>C | CA420187484 | HMGCS2 | c.495C>G (p.Ala165=) n.391C>G | |
| 1 | g.119764236G= | CA1192444976 | HMGCS2 | c.495C= (p.Ala165=) n.391C= | |
| 1 | g.119764236G>T | CA420187486 | HMGCS2 | c.495C>A (p.Ala165=) n.391C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.119764237G>A | CA341864491 | HMGCS2 | c.494C>T (p.Ala165Val) n.390C>T | |
| 1 | g.119764237G>C | CA341864494 | HMGCS2 | c.494C>G (p.Ala165Gly) n.390C>G | |
| 1 | g.119764237G>T | CA341864496 | HMGCS2 | c.494C>A (p.Ala165Asp) n.390C>A | |
| 1 | g.119764238C>A | CA341864498 | HMGCS2 | c.493G>T (p.Ala165Ser) n.389G>T | |
| 1 | g.119764238C>G | CA341864499 | HMGCS2 | c.493G>C (p.Ala165Pro) n.389G>C | |
| 1 | g.119764238C>T | CA341864501 | HMGCS2 | c.493G>A (p.Ala165Thr) n.389G>A | |
| 1 | g.119764239A= | CA1192444977 | HMGCS2 | c.492T= (p.Asn164=) n.388T= | |
| 1 | g.119764239A>C | CA341864504 | HMGCS2 | c.492T>G (p.Asn164Lys) n.388T>G | |
| 1 | g.119764239A>G | CA420187488 | HMGCS2 | c.492T>C (p.Asn164=) n.388T>C | dbSNP |
| 1 | g.119764239A>T | CA341864509 | HMGCS2 | c.492T>A (p.Asn164Lys) n.388T>A | gnomAD v4 |
| 1 | g.119764240T>A | CA341864518 | HMGCS2 | c.491A>T (p.Asn164Ile) n.387A>T | |
| 1 | g.119764240T>C | CA341864524 | HMGCS2 | c.491A>G (p.Asn164Ser) n.387A>G | dbSNP gnomAD v4 |
| 1 | g.119764240T>G | CA341864527 | HMGCS2 | c.491A>C (p.Asn164Thr) n.387A>C | |
| 1 | g.119764240T= | CA1192444978 | HMGCS2 | c.491A= (p.Asn164=) n.387A= | |
| 1 | g.119764241T>A | CA341864533 | HMGCS2 | c.490A>T (p.Asn164Tyr) n.386A>T | |
| 1 | g.119764241T>C | CA341864534 | HMGCS2 | c.490A>G (p.Asn164Asp) n.386A>G | |
| 1 | g.119764241T>G | CA341864538 | HMGCS2 | c.490A>C (p.Asn164His) n.386A>C | |
| 1 | g.119764242G>A | CA420187497 | HMGCS2 | c.489C>T (p.Thr163=) n.385C>T | dbSNP |
| 1 | g.119764242G>C | CA420187498 | HMGCS2 | c.489C>G (p.Thr163=) n.385C>G | |
| 1 | g.119764242G= | CA1192444979 | HMGCS2 | c.489C= (p.Thr163=) n.385C= | |
| 1 | g.119764242G>T | CA420187499 | HMGCS2 | c.489C>A (p.Thr163=) n.385C>A | |
| 1 | g.119764243G>A | CA341864548 | HMGCS2 | c.488C>T (p.Thr163Ile) n.384C>T | |
| 1 | g.119764243G>C | CA341864549 | HMGCS2 | c.488C>G (p.Thr163Ser) n.384C>G | |
| 1 | g.119764243G= | CA1192444980 | HMGCS2 | c.488C= (p.Thr163=) n.384C= | |
| 1 | g.119764243G>T | CA341864550 | HMGCS2 | c.488C>A (p.Thr163Asn) n.384C>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.119764245_119764268del | CA2574042529 | HMGCS2 | c.465_488del (p.Asp156_Thr163del) n.361_384del | gnomAD v4 |
| 1 | g.119764244T>A | CA341864552 | HMGCS2 | c.487A>T (p.Thr163Ser) n.383A>T | |
| 1 | g.119764244T>C | CA341864556 | HMGCS2 | c.487A>G (p.Thr163Ala) n.383A>G | |
| 1 | g.119764244T>G | CA341864557 | HMGCS2 | c.487A>C (p.Thr163Pro) n.383A>C | |
| 1 | g.119764245G>A | CA420187526 | HMGCS2 | c.486C>T (p.Thr162=) n.382C>T | |
| 1 | g.119764245G>C | CA420187527 | HMGCS2 | c.486C>G (p.Thr162=) n.382C>G | |
| 1 | g.119764245G>T | CA420187528 | HMGCS2 | c.486C>A (p.Thr162=) n.382C>A | |
| 1 | g.119764246G>A | CA1037882 | HMGCS2 | c.485C>T (p.Thr162Ile) n.381C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.119764246G>C | CA341864568 | HMGCS2 | c.485C>G (p.Thr162Ser) n.381C>G | |
| 1 | g.119764246G= | CA1192444981 | HMGCS2 | c.485C= (p.Thr162=) n.381C= | |
| 1 | g.119764246G>T | CA1037883 | HMGCS2 | c.485C>A (p.Thr162Asn) n.381C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.119764247T>A | CA341864602 | HMGCS2 | c.484A>T (p.Thr162Ser) n.380A>T | |
| 1 | g.119764247T>C | CA341864604 | HMGCS2 | c.484A>G (p.Thr162Ala) n.380A>G | |
| 1 | g.119764247T>G | CA341864605 | HMGCS2 | c.484A>C (p.Thr162Pro) n.380A>C | |
| 1 | g.119764248A>C | CA341864606 | HMGCS2 | c.483T>G (p.Asp161Glu) n.379T>G | |
| 1 | g.119764248A>G | CA420187532 | HMGCS2 | c.483T>C (p.Asp161=) n.379T>C | gnomAD v4 |
| 1 | g.119764248A>T | CA341864607 | HMGCS2 | c.483T>A (p.Asp161Glu) n.379T>A | gnomAD v4 |
| 1 | g.119764249T>A | CA341864611 | HMGCS2 | c.482A>T (p.Asp161Val) n.378A>T | gnomAD v4 |
| 1 | g.119764249T>C | CA341864622 | HMGCS2 | c.482A>G (p.Asp161Gly) n.378A>G | dbSNP gnomAD v4 |
| 1 | g.119764249T>G | CA341864631 | HMGCS2 | c.482A>C (p.Asp161Ala) n.378A>C | |
| 1 | g.119764249T= | CA1192444982 | HMGCS2 | c.482A= (p.Asp161=) n.378A= | |
| 1 | g.119764250C>A | CA341864634 | HMGCS2 | c.481G>T (p.Asp161Tyr) n.377G>T | COSMIC |
| 1 | g.119764250C>G | CA341864638 | HMGCS2 | c.481G>C (p.Asp161His) n.377G>C | |
| 1 | g.119764250C>T | CA341864639 | HMGCS2 | c.481G>A (p.Asp161Asn) n.377G>A | |
| 1 | g.119764251T>A | CA420187535 | HMGCS2 | c.480A>T (p.Ile160=) n.376A>T | |
| 1 | g.119764251T>C | CA341864640 | HMGCS2 | c.480A>G (p.Ile160Met) n.376A>G | |
| 1 | g.119764251T>G | CA420187536 | HMGCS2 | c.480A>C (p.Ile160=) n.376A>C | |
| 1 | g.119764252A= | CA1148727854 | HMGCS2 | c.479T= (p.Ile160=) n.375T= | |
| 1 | g.119764252A>C | CA341864641 | HMGCS2 | c.479T>G (p.Ile160Arg) n.375T>G | |
| 1 | g.119764252A>G | CA1037884 | HMGCS2 | c.479T>C (p.Ile160Thr) n.375T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.119764252A>T | CA341864642 | HMGCS2 | c.479T>A (p.Ile160Lys) n.375T>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.119764253T>A | CA341864643 | HMGCS2 | c.478A>T (p.Ile160Leu) n.374A>T | |
| 1 | g.119764253T>C | CA30274944 | HMGCS2 | c.478A>G (p.Ile160Val) n.374A>G | dbSNP |
| 1 | g.119764253T>G | CA341864644 | HMGCS2 | c.478A>C (p.Ile160Leu) n.374A>C | |
| 1 | g.119764253T= | CA1192444983 | HMGCS2 | c.478A= (p.Ile160=) n.374A= | |
| 1 | g.119764254G>A | CA30274957 | HMGCS2 | c.477C>T (p.Gly159=) n.373C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.119764254G>C | CA420187540 | HMGCS2 | c.477C>G (p.Gly159=) n.373C>G | |
| 1 | g.119764254G= | CA1192444984 | HMGCS2 | c.477C= (p.Gly159=) n.373C= | |
| 1 | g.119764254G>T | CA420187538 | HMGCS2 | c.477C>A (p.Gly159=) n.373C>A | |
| 1 | g.119764255C>A | CA341864645 | HMGCS2 | c.476G>T (p.Gly159Val) n.372G>T | gnomAD v4 |
| 1 | g.119764255C= | CA1192444985 | HMGCS2 | c.476G= (p.Gly159=) n.372G= | |
| 1 | g.119764255C>G | CA341864646 | HMGCS2 | c.476G>C (p.Gly159Ala) n.372G>C | |
| 1 | g.119764255C>T | CA30274960 | HMGCS2 | c.476G>A (p.Gly159Asp) n.372G>A | dbSNP gnomAD v4 |
| 1 | g.119764256C>A | CA341864663 | HMGCS2 | c.475G>T (p.Gly159Cys) n.371G>T | |
| 1 | g.119764256C>G | CA341864665 | HMGCS2 | c.475G>C (p.Gly159Arg) n.371G>C | |
| 1 | g.119764256C>T | CA341864675 | HMGCS2 | c.475G>A (p.Gly159Ser) n.371G>A | |
| 1 | g.119764257C>A | CA341864676 | HMGCS2 | c.474G>T (p.Glu158Asp) n.370G>T | |
| 1 | g.119764257C>G | CA341864681 | HMGCS2 | c.474G>C (p.Glu158Asp) n.370G>C | |
| 1 | g.119764257C>T | CA420187545 | HMGCS2 | c.474G>A (p.Glu158=) n.370G>A | |
| 1 | g.119764258T>A | CA341864687 | HMGCS2 | c.473A>T (p.Glu158Val) n.369A>T | |
| 1 | g.119764258T>C | CA341864693 | HMGCS2 | c.473A>G (p.Glu158Gly) n.369A>G | |
| 1 | g.119764258T>G | CA341864696 | HMGCS2 | c.473A>C (p.Glu158Ala) n.369A>C | |
| 1 | g.119764259C>A | CA341864699 | HMGCS2 | c.472G>T (p.Glu158Ter) n.368G>T | |
| 1 | g.119764259C= | CA1192444986 | HMGCS2 | c.472G= (p.Glu158=) n.368G= | |
| 1 | g.119764259C>G | CA1037885 | HMGCS2 | c.472G>C (p.Glu158Gln) n.368G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.119764259C>T | CA341864722 | HMGCS2 | c.472G>A (p.Glu158Lys) n.368G>A | |
| 1 | g.119764260A= | CA1192444987 | HMGCS2 | c.471T= (p.Ile157=) n.367T= | |
| 1 | g.119764260A>C | CA341864725 | HMGCS2 | c.471T>G (p.Ile157Met) n.367T>G | gnomAD v4 |
| 1 | g.119764260A>G | CA420187546 | HMGCS2 | c.471T>C (p.Ile157=) n.367T>C | dbSNP gnomAD v4 |
| 1 | g.119764260A>T | CA420187547 | HMGCS2 | c.471T>A (p.Ile157=) n.367T>A | gnomAD v4 |
| 1 | g.119764261A= | CA1192444988 | HMGCS2 | c.470T= (p.Ile157=) n.366T= | |
| 1 | g.119764261A>C | CA341864741 | HMGCS2 | c.470T>G (p.Ile157Ser) n.366T>G | |
| 1 | g.119764261A>G | CA30274967 | HMGCS2 | c.470T>C (p.Ile157Thr) n.366T>C | dbSNP COSMIC |
| 1 | g.119764261A>T | CA341864739 | HMGCS2 | c.470T>A (p.Ile157Asn) n.366T>A | |
| 1 | g.119764262T>A | CA341864743 | HMGCS2 | c.469A>T (p.Ile157Phe) n.365A>T | |
| 1 | g.119764262T>C | CA30274971 | HMGCS2 | c.469A>G (p.Ile157Val) n.365A>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.119764262T>G | CA341864749 | HMGCS2 | c.469A>C (p.Ile157Leu) n.365A>C | |
| 1 | g.119764262T= | CA1192444989 | HMGCS2 | c.469A= (p.Ile157=) n.365A= | |
| 1 | g.119764263A= | CA1192444990 | HMGCS2 | c.468T= (p.Asp156=) n.364T= | |
| 1 | g.119764263A>C | CA341864760 | HMGCS2 | c.468T>G (p.Asp156Glu) n.364T>G | |
| 1 | g.119764263A>G | CA420187553 | HMGCS2 | c.468T>C (p.Asp156=) n.364T>C | dbSNP gnomAD v4 |
| 1 | g.119764263A>T | CA341864762 | HMGCS2 | c.468T>A (p.Asp156Glu) n.364T>A | |
| 1 | g.119764264T>A | CA341864765 | HMGCS2 | c.467A>T (p.Asp156Val) n.363A>T | |
| 1 | g.119764264T>C | CA341864768 | HMGCS2 | c.467A>G (p.Asp156Gly) n.363A>G | |
| 1 | g.119764264T>G | CA341864769 | HMGCS2 | c.467A>C (p.Asp156Ala) n.363A>C | |
| 1 | g.119764265C>A | CA341864770 | HMGCS2 | c.466G>T (p.Asp156Tyr) n.362G>T | |
| 1 | g.119764265C>G | CA341864771 | HMGCS2 | c.466G>C (p.Asp156His) n.362G>C | |
| 1 | g.119764265C>T | CA341864774 | HMGCS2 | c.466G>A (p.Asp156Asn) n.362G>A | |
| 1 | g.119764266A>C | CA420187556 | HMGCS2 | c.465T>G (p.Thr155=) n.361T>G | |
| 1 | g.119764266A>G | CA420187559 | HMGCS2 | c.465T>C (p.Thr155=) n.361T>C | |
| 1 | g.119764266A>T | CA420187558 | HMGCS2 | c.465T>A (p.Thr155=) n.361T>A | |
| 1 | g.119764267G>A | CA341864801 | HMGCS2 | c.464C>T (p.Thr155Ile) n.360C>T | |
| 1 | g.119764267G>C | CA341864786 | HMGCS2 | c.464C>G (p.Thr155Ser) n.360C>G | |
| 1 | g.119764267G>T | CA341864778 | HMGCS2 | c.464C>A (p.Thr155Asn) n.360C>A | |
| 1 | g.119764268T>A | CA341864814 | HMGCS2 | c.463A>T (p.Thr155Ser) n.359A>T | |
| 1 | g.119764268T>C | CA341864806 | HMGCS2 | c.463A>G (p.Thr155Ala) n.359A>G | |
| 1 | g.119764268T>G | CA341864811 | HMGCS2 | c.463A>C (p.Thr155Pro) n.359A>C | |
| 1 | g.119764269A= | CA1192444991 | HMGCS2 | c.462T= (p.Asn154=) n.358T= | |
| 1 | g.119764269A>C | CA341864820 | HMGCS2 | c.462T>G (p.Asn154Lys) n.358T>G | |
| 1 | g.119764269A>G | CA420187561 | HMGCS2 | c.462T>C (p.Asn154=) n.358T>C | dbSNP |
| 1 | g.119764269A>T | CA341864832 | HMGCS2 | c.462T>A (p.Asn154Lys) n.358T>A | |
| 1 | g.119764270T>A | CA341864834 | HMGCS2 | c.461A>T (p.Asn154Ile) n.357A>T | |
| 1 | g.119764270T>C | CA341864835 | HMGCS2 | c.461A>G (p.Asn154Ser) n.357A>G | dbSNP |
| 1 | g.119764270T>G | CA341864837 | HMGCS2 | c.461A>C (p.Asn154Thr) n.357A>C | |
| 1 | g.119764270T= | CA1192444992 | HMGCS2 | c.461A= (p.Asn154=) n.357A= | |
| 1 | g.119764271T>A | CA341864841 | HMGCS2 | c.460A>T (p.Asn154Tyr) n.356A>T | |
| 1 | g.119764271T>C | CA341864843 | HMGCS2 | c.460A>G (p.Asn154Asp) n.356A>G | |
| 1 | g.119764271T>G | CA341864842 | HMGCS2 | c.460A>C (p.Asn154His) n.356A>C | |
| 1 | g.119764272G>A | CA1037886 | HMGCS2 | c.459C>T (p.Gly153=) n.355C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.119764272G>C | CA420187566 | HMGCS2 | c.459C>G (p.Gly153=) n.355C>G | |
| 1 | g.119764272G= | CA1149049314 | HMGCS2 | c.459C= (p.Gly153=) n.355C= | |
| 1 | g.119764272G>T | CA420187568 | HMGCS2 | c.459C>A (p.Gly153=) n.355C>A | dbSNP |
| 1 | g.119764273C>A | CA341864845 | HMGCS2 | c.458G>T (p.Gly153Val) n.354G>T | |
| 1 | g.119764273C= | CA1192444993 | HMGCS2 | c.458G= (p.Gly153=) n.354G= | |
| 1 | g.119764273C>G | CA341864851 | HMGCS2 | c.458G>C (p.Gly153Ala) n.354G>C | |
| 1 | g.119764273C>T | CA1037887 | HMGCS2 | c.458G>A (p.Gly153Asp) n.354G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.119764274C>A | CA341864855 | HMGCS2 | c.457G>T (p.Gly153Cys) n.353G>T | |
| 1 | g.119764274C>G | CA341864860 | HMGCS2 | c.457G>C (p.Gly153Arg) n.353G>C | |
| 1 | g.119764274C>T | CA341864858 | HMGCS2 | c.457G>A (p.Gly153Ser) n.353G>A | |
| 1 | g.119764275T>A | CA420187572 | HMGCS2 | c.456A>T (p.Ser152=) n.352A>T | |
| 1 | g.119764275T>C | CA420187573 | HMGCS2 | c.456A>G (p.Ser152=) n.352A>G | gnomAD v4 |
| 1 | g.119764275T>G | CA420187575 | HMGCS2 | c.456A>C (p.Ser152=) n.352A>C | dbSNP |
| 1 | g.119764275T= | CA1192444994 | HMGCS2 | c.456A= (p.Ser152=) n.352A= | |
| 1 | g.119764276G>A | CA341864862 | HMGCS2 | c.455C>T (p.Ser152Leu) n.351C>T | |
| 1 | g.119764276G>C | CA341864866 | HMGCS2 | c.455C>G (p.Ser152Ter) n.351C>G | |
| 1 | g.119764276G>T | CA341864867 | HMGCS2 | c.455C>A (p.Ser152Ter) n.351C>A | |
| 1 | g.119764277A>C | CA341864876 | HMGCS2 | c.454T>G (p.Ser152Ala) n.350T>G | |
| 1 | g.119764277A>G | CA341864878 | HMGCS2 | c.454T>C (p.Ser152Pro) n.350T>C | |
| 1 | g.119764277A>T | CA341864882 | HMGCS2 | c.454T>A (p.Ser152Thr) n.350T>A | |
| 1 | g.119764278A>C | CA341864887 | HMGCS2 | c.453T>G (p.Asp151Glu) n.349T>G | |
| 1 | g.119764278A>G | CA420187580 | HMGCS2 | c.453T>C (p.Asp151=) n.349T>C | |
| 1 | g.119764278A>T | CA341864888 | HMGCS2 | c.453T>A (p.Asp151Glu) n.349T>A | |
| 1 | g.119764279T>A | CA341864890 | HMGCS2 | c.452A>T (p.Asp151Val) n.348A>T | |
| 1 | g.119764279T>C | CA341864891 | HMGCS2 | c.452A>G (p.Asp151Gly) n.348A>G | |
| 1 | g.119764279T>G | CA341864893 | HMGCS2 | c.452A>C (p.Asp151Ala) n.348A>C | |
| 1 | g.119764280C>A | CA341864906 | HMGCS2 | c.451G>T (p.Asp151Tyr) n.347G>T | gnomAD v4 |
| 1 | g.119764280C= | CA1192444995 | HMGCS2 | c.451G= (p.Asp151=) n.347G= | |
| 1 | g.119764280C>G | CA341864912 | HMGCS2 | c.451G>C (p.Asp151His) n.347G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.119764280C>T | CA341864903 | HMGCS2 | c.451G>A (p.Asp151Asn) n.347G>A | COSMIC |
| 1 | g.119764281C>A | CA341864919 | HMGCS2 | c.450G>T (p.Gln150His) n.346G>T | |
| 1 | g.119764281C>G | CA341864922 | HMGCS2 | c.450G>C (p.Gln150His) n.346G>C | |
| 1 | g.119764281C>T | CA420187584 | HMGCS2 | c.450G>A (p.Gln150=) n.346G>A | |
| 1 | g.119764282T>A | CA341864924 | HMGCS2 | c.449A>T (p.Gln150Leu) n.345A>T | |
| 1 | g.119764282T>C | CA341864925 | HMGCS2 | c.449A>G (p.Gln150Arg) n.345A>G | |
| 1 | g.119764282T>G | CA341864930 | HMGCS2 | c.449A>C (p.Gln150Pro) n.345A>C | |
| 1 | g.119764283G>A | CA341864946 | HMGCS2 | c.448C>T (p.Gln150Ter) n.344C>T | |
| 1 | g.119764283G>C | CA341864949 | HMGCS2 | c.448C>G (p.Gln150Glu) n.344C>G | |
| 1 | g.119764283G>T | CA341864951 | HMGCS2 | c.448C>A (p.Gln150Lys) n.344C>A | |
| 1 | g.119764284G>A | CA420187589 | HMGCS2 | c.447C>T (p.Phe149=) n.343C>T | |
| 1 | g.119764284G>C | CA341864956 | HMGCS2 | c.447C>G (p.Phe149Leu) n.343C>G | |
| 1 | g.119764284G>T | CA341864959 | HMGCS2 | c.447C>A (p.Phe149Leu) n.343C>A | |
| 1 | g.119764285A>C | CA341864962 | HMGCS2 | c.446T>G (p.Phe149Cys) n.342T>G | |
| 1 | g.119764285A>G | CA341864965 | HMGCS2 | c.446T>C (p.Phe149Ser) n.342T>C | |
| 1 | g.119764285A>T | CA341864968 | HMGCS2 | c.446T>A (p.Phe149Tyr) n.342T>A | |
| 1 | g.119764286A= | CA1192444996 | HMGCS2 | c.445T= (p.Phe149=) n.341T= | |
| 1 | g.119764286A>C | CA1037888 | HMGCS2 | c.445T>G (p.Phe149Val) n.341T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.119764286A>G | CA341864974 | HMGCS2 | c.445T>C (p.Phe149Leu) n.341T>C | |
| 1 | g.119764286A>T | CA341864984 | HMGCS2 | c.445T>A (p.Phe149Ile) n.341T>A | |
| 1 | g.119764287G>A | CA420187593 | HMGCS2 | c.444C>T (p.Leu148=) n.340C>T | gnomAD v4 |
| 1 | g.119764287G>C | CA420187594 | HMGCS2 | c.444C>G (p.Leu148=) n.340C>G | dbSNP |
| 1 | g.119764287G= | CA1192444997 | HMGCS2 | c.444C= (p.Leu148=) n.340C= | |
| 1 | g.119764287G>T | CA420187595 | HMGCS2 | c.444C>A (p.Leu148=) n.340C>A | dbSNP |
| 1 | g.119764290_119764298del | CA2647400522 | HMGCS2 | c.436_444del (p.Met146_Leu148del) n.332_340del | gnomAD v4 |
| 1 | g.119764288A= | CA1192444998 | HMGCS2 | c.443T= (p.Leu148=) n.339T= | |
| 1 | g.119764288A>C | CA341864995 | HMGCS2 | c.443T>G (p.Leu148Arg) n.339T>G | |
| 1 | g.119764288A>G | CA341865002 | HMGCS2 | c.443T>C (p.Leu148Pro) n.339T>C | |
| 1 | g.119764288A>T | CA341865005 | HMGCS2 | c.443T>A (p.Leu148His) n.339T>A | dbSNP |
| 1 | g.119764288_119764291dup | CA2647400526 | HMGCS2 | c.440_443dup (p.Phe149ThrfsTer9) n.336_339dup | gnomAD v4 |
| 1 | g.119764289G>A | CA30275023 | HMGCS2 | c.442C>T (p.Leu148Phe) n.338C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.119764289G>C | CA341865017 | HMGCS2 | c.442C>G (p.Leu148Val) n.338C>G | gnomAD v4 |
| 1 | g.119764289G= | CA1192444999 | HMGCS2 | c.442C= (p.Leu148=) n.338C= | |
| 1 | g.119764289G>T | CA341865027 | HMGCS2 | c.442C>A (p.Leu148Ile) n.338C>A | |
| 1 | g.119764290T>A | CA341865042 | HMGCS2 | c.441A>T (p.Glu147Asp) n.337A>T | |
| 1 | g.119764290T>C | CA420187600 | HMGCS2 | c.441A>G (p.Glu147=) n.337A>G | |
| 1 | g.119764290T>G | CA341865045 | HMGCS2 | c.441A>C (p.Glu147Asp) n.337A>C | |
| 1 | g.119764290_119764293dup | CA2647400533 | HMGCS2 | c.438_441dup (p.Leu148GlyfsTer10) n.334_337dup | gnomAD v4 |
| 1 | g.119764291T>A | CA341865049 | HMGCS2 | c.440A>T (p.Glu147Val) n.336A>T | |
| 1 | g.119764291T>C | CA341865055 | HMGCS2 | c.440A>G (p.Glu147Gly) n.336A>G | |
| 1 | g.119764291T>G | CA341865058 | HMGCS2 | c.440A>C (p.Glu147Ala) n.336A>C | |
| 1 | g.119764292C>A | CA341865084 | HMGCS2 | c.439G>T (p.Glu147Ter) n.335G>T | |
| 1 | g.119764292C>G | CA341865088 | HMGCS2 | c.439G>C (p.Glu147Gln) n.335G>C | |
| 1 | g.119764292C>T | CA341865080 | HMGCS2 | c.439G>A (p.Glu147Lys) n.335G>A | |
| 1 | g.119764293C>A | CA341865100 | HMGCS2 | c.438G>T (p.Met146Ile) n.334G>T | |
| 1 | g.119764293C>G | CA341865103 | HMGCS2 | c.438G>C (p.Met146Ile) n.334G>C | |
| 1 | g.119764293C>T | CA341865106 | HMGCS2 | c.438G>A (p.Met146Ile) n.334G>A | |
| 1 | g.119764294A>C | CA341865108 | HMGCS2 | c.437T>G (p.Met146Arg) n.333T>G | |
| 1 | g.119764294A>G | CA341865110 | HMGCS2 | c.437T>C (p.Met146Thr) n.333T>C | gnomAD v4 |
| 1 | g.119764294A>T | CA341865111 | HMGCS2 | c.437T>A (p.Met146Lys) n.333T>A | |
| 1 | g.119764295T>A | CA341865114 | HMGCS2 | c.436A>T (p.Met146Leu) n.332A>T | gnomAD v4 |
| 1 | g.119764295T>C | CA341865124 | HMGCS2 | c.436A>G (p.Met146Val) n.332A>G | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.119764295T>G | CA341865118 | HMGCS2 | c.436A>C (p.Met146Leu) n.332A>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.119764295T= | CA1192445000 | HMGCS2 | c.436A= (p.Met146=) n.332A= | |
| 1 | g.119764296G>A | CA1037889 | HMGCS2 | c.435C>T (p.Leu145=) n.331C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.119764296G>C | CA420187613 | HMGCS2 | c.435C>G (p.Leu145=) n.331C>G | |
| 1 | g.119764296G= | CA1192445001 | HMGCS2 | c.435C= (p.Leu145=) n.331C= | |
| 1 | g.119764296G>T | CA420187612 | HMGCS2 | c.435C>A (p.Leu145=) n.331C>A | |
| 1 | g.119764297A>C | CA341865132 | HMGCS2 | c.434T>G (p.Leu145Arg) n.330T>G | |
| 1 | g.119764297A>G | CA341865137 | HMGCS2 | c.434T>C (p.Leu145Pro) n.330T>C | gnomAD v4 |
| 1 | g.119764297A>T | CA341865138 | HMGCS2 | c.434T>A (p.Leu145His) n.330T>A | |
| 1 | g.119764298G>A | CA341865139 | HMGCS2 | c.433C>T (p.Leu145Phe) n.329C>T | gnomAD v4 |
| 1 | g.119764298G>C | CA341865144 | HMGCS2 | c.433C>G (p.Leu145Val) n.329C>G | |
| 1 | g.119764298G>T | CA341865140 | HMGCS2 | c.433C>A (p.Leu145Ile) n.329C>A | |
| 1 | g.119764299C>A | CA420187617 | HMGCS2 | c.432G>T (p.Val144=) n.328G>T | |
| 1 | g.119764299C>G | CA420187618 | HMGCS2 | c.432G>C (p.Val144=) n.328G>C | |
| 1 | g.119764299C>T | CA420187619 | HMGCS2 | c.432G>A (p.Val144=) n.328G>A | |
| 1 | g.119764300_119764301del | CA658761352 | HMGCS2 | c.431_432del (p.Val144AlafsTer12) n.327_328del | gnomAD v4 |
| 1 | g.119764300A= | CA1192445002 | HMGCS2 | c.431T= (p.Val144=) n.327T= | |
| 1 | g.119764300A>C | CA341865148 | HMGCS2 | c.431T>G (p.Val144Gly) n.327T>G | |
| 1 | g.119764300A>G | CA341865164 | HMGCS2 | c.431T>C (p.Val144Ala) n.327T>C | |
| 1 | g.119764300A>T | CA1037890 | HMGCS2 | c.431T>A (p.Val144Glu) n.327T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.119764301C>A | CA1037891 | HMGCS2 | c.430G>T (p.Val144Leu) n.326G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.119764301C= | CA1192445003 | HMGCS2 | c.430G= (p.Val144=) n.326G= | |
| 1 | g.119764301C>G | CA341865193 | HMGCS2 | c.430G>C (p.Val144Leu) n.326G>C | gnomAD v4 |
| 1 | g.119764301C>T | CA341865198 | HMGCS2 | c.430G>A (p.Val144Met) n.326G>A | gnomAD v4 |
| 1 | g.119764302T>A | CA420187626 | HMGCS2 | c.429A>T (p.Thr143=) n.325A>T | |
| 1 | g.119764302T>C | CA420187625 | HMGCS2 | c.429A>G (p.Thr143=) n.325A>G | dbSNP gnomAD v4 |
| 1 | g.119764302T>G | CA420187624 | HMGCS2 | c.429A>C (p.Thr143=) n.325A>C | |
| 1 | g.119764302T= | CA1192445004 | HMGCS2 | c.429A= (p.Thr143=) n.325A= | |
| 1 | g.119764303G>A | CA341865218 | HMGCS2 | c.428C>T (p.Thr143Ile) n.324C>T | gnomAD v4 |
| 1 | g.119764303G>C | CA1037892 | HMGCS2 | c.428C>G (p.Thr143Arg) n.324C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.119764303G= | CA1192445005 | HMGCS2 | c.428C= (p.Thr143=) n.324C= | |
| 1 | g.119764303G>T | CA341865232 | HMGCS2 | c.428C>A (p.Thr143Lys) n.324C>A | |
| 1 | g.119764304T>A | CA341865237 | HMGCS2 | c.427A>T (p.Thr143Ser) n.323A>T | |
| 1 | g.119764304T>C | CA341865239 | HMGCS2 | c.427A>G (p.Thr143Ala) n.323A>G | |
| 1 | g.119764304T>G | CA341865260 | HMGCS2 | c.427A>C (p.Thr143Pro) n.323A>C | |
| 1 | g.119764305_119764307del | CA2647400560 | HMGCS2 | c.425_427del (p.Lys142del) n.321_323del | gnomAD v4 |
| 1 | g.119764305T>A | CA341865263 | HMGCS2 | c.426A>T (p.Lys142Asn) n.322A>T | dbSNP |
| 1 | g.119764305T>C | CA420187629 | HMGCS2 | c.426A>G (p.Lys142=) n.322A>G | |
| 1 | g.119764305T>G | CA341865264 | HMGCS2 | c.426A>C (p.Lys142Asn) n.322A>C | |
| 1 | g.119764305T= | CA1192445006 | HMGCS2 | c.426A= (p.Lys142=) n.322A= | |
| 1 | g.119764306T>A | CA341865266 | HMGCS2 | c.425A>T (p.Lys142Ile) n.321A>T | |
| 1 | g.119764306T>C | CA341865273 | HMGCS2 | c.425A>G (p.Lys142Arg) n.321A>G | |
| 1 | g.119764306T>G | CA341865268 | HMGCS2 | c.425A>C (p.Lys142Thr) n.321A>C | |
| 1 | g.119764307T>A | CA341865278 | HMGCS2 | c.424A>T (p.Lys142Ter) n.320A>T | |
| 1 | g.119764307T>C | CA341865280 | HMGCS2 | c.424A>G (p.Lys142Glu) n.320A>G | |
| 1 | g.119764307T>G | CA341865279 | HMGCS2 | c.424A>C (p.Lys142Gln) n.320A>C | |
| 1 | g.119764308G>A | CA420187635 | HMGCS2 | c.423C>T (p.Val141=) n.319C>T | |
| 1 | g.119764308G>C | CA420187636 | HMGCS2 | c.423C>G (p.Val141=) n.319C>G | |
| 1 | g.119764308G>T | CA420187637 | HMGCS2 | c.423C>A (p.Val141=) n.319C>A | |
| 1 | g.119764309A= | CA1192445007 | HMGCS2 | c.422T= (p.Val141=) n.318T= | |
| 1 | g.119764309A>C | CA341865281 | HMGCS2 | c.422T>G (p.Val141Gly) n.318T>G | |
| 1 | g.119764309A>G | CA341865287 | HMGCS2 | c.422T>C (p.Val141Ala) n.318T>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.119764309A>T | CA341865290 | HMGCS2 | c.422T>A (p.Val141Asp) n.318T>A | ClinVar dbSNP |