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.108132328_108141537delinsTAA | CA915948963 | ACAT1 | c.120+374_731-68delinsTAA n.215+374_826-68delinsTAA c.120+374_*289-68delinsTAA c.-151+374_461-68delinsTAA c.73-6570_368-68delinsTAA c.120+374_580-68delinsTAA c.120+374_416-68delinsTAA n.208+374_819-68delinsTAA c.120+374_*204-68delinsTAA c.-158+374_353-68delinsTAA c.-158+374_434-68delinsTAA n.160+374_771-68delinsTAA n.254+374_764-68delinsTAA | ClinVar |
| 11 | g.108138914G>A | CA382507077 | ACAT1 | c.452G>A (p.Gly151Asp) n.547G>A c.*10G>A (n.*10G>A) c.182G>A (p.Gly61Asp) c.89G>A (p.Gly30Asp) c.137G>A (p.Gly46Asp) n.540G>A c.258G>A c.351G>A (p.Arg117=) n.195G>A c.74G>A (p.Gly25Asp) c.155G>A (p.Gly52Asp) n.492G>A n.485G>A | |
| 11 | g.108138914G>C | CA382507078 | ACAT1 | c.452G>C (p.Gly151Ala) n.547G>C c.*10G>C (n.*10G>C) c.182G>C (p.Gly61Ala) c.89G>C (p.Gly30Ala) c.137G>C (p.Gly46Ala) n.540G>C c.258G>C c.351G>C (p.Arg117Ser) n.195G>C c.74G>C (p.Gly25Ala) c.155G>C (p.Gly52Ala) n.492G>C n.485G>C | |
| 11 | g.108138914G>T | CA382507079 | ACAT1 | c.452G>T (p.Gly151Val) n.547G>T c.*10G>T (n.*10G>T) c.182G>T (p.Gly61Val) c.89G>T (p.Gly30Val) c.137G>T (p.Gly46Val) n.540G>T c.258G>T c.351G>T (p.Arg117Ser) n.195G>T c.74G>T (p.Gly25Val) c.155G>T (p.Gly52Val) n.492G>T n.485G>T | |
| 11 | g.108138915T>A | CA476672064 | ACAT1 | c.453T>A (p.Gly151=) n.548T>A c.*11T>A (n.*11T>A) c.183T>A (p.Gly61=) c.90T>A (p.Gly30=) c.138T>A (p.Gly46=) n.541T>A c.259T>A c.352T>A (p.Trp118Arg) n.196T>A c.75T>A (p.Gly25=) c.156T>A (p.Gly52=) n.493T>A n.486T>A | |
| 11 | g.108138915T>C | CA476672065 | ACAT1 | c.453T>C (p.Gly151=) n.548T>C c.*11T>C (n.*11T>C) c.183T>C (p.Gly61=) c.90T>C (p.Gly30=) c.138T>C (p.Gly46=) n.541T>C c.259T>C c.352T>C (p.Trp118Arg) n.196T>C c.75T>C (p.Gly25=) c.156T>C (p.Gly52=) n.493T>C n.486T>C | dbSNP |
| 11 | g.108138915T>G | CA6263142 | ACAT1 | c.453T>G (p.Gly151=) n.548T>G c.*11T>G (n.*11T>G) c.183T>G (p.Gly61=) c.90T>G (p.Gly30=) c.138T>G (p.Gly46=) n.541T>G c.259T>G c.352T>G (p.Trp118Gly) n.196T>G c.75T>G (p.Gly25=) c.156T>G (p.Gly52=) n.493T>G n.486T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.108138915T= | CA1998717017 | ACAT1 | c.453T= (p.Gly151=) n.548T= c.*11T= (n.*11T=) c.183T= (p.Gly61=) c.90T= (p.Gly30=) c.138T= (p.Gly46=) n.541T= c.259T= c.352T= (p.Trp118=) n.196T= c.75T= (p.Gly25=) c.156T= (p.Gly52=) n.493T= n.486T= | |
| 11 | g.108138917_108138937del | CA2725143762 | ACAT1 | c.455_475del (p.Gly152_Asn158del) n.550_570del c.*13_*33del (n.*13_*33del) c.185_205del (p.Gly62_Asn68del) c.92_112del (p.Gly31_Asn37del) c.140_160del (p.Gly47_Asn53del) n.543_563del c.261_281del c.354_374del (p.Trp118_Gln124del) n.198_218del c.77_97del (p.Gly26_Asn32del) c.158_178del (p.Gly53_Asn59del) n.495_515del n.488_508del | ClinVar dbSNP |
| 11 | g.108138916G>A | CA382507082 | ACAT1 | c.454G>A (p.Gly152Arg) n.549G>A c.*12G>A (n.*12G>A) c.184G>A (p.Gly62Arg) c.91G>A (p.Gly31Arg) c.139G>A (p.Gly47Arg) n.542G>A c.260G>A c.353G>A (p.Trp118Ter) n.197G>A c.76G>A (p.Gly26Arg) c.157G>A (p.Gly53Arg) n.494G>A n.487G>A | |
| 11 | g.108138916G>C | CA382507081 | ACAT1 | c.454G>C (p.Gly152Arg) n.549G>C c.*12G>C (n.*12G>C) c.184G>C (p.Gly62Arg) c.91G>C (p.Gly31Arg) c.139G>C (p.Gly47Arg) n.542G>C c.260G>C c.353G>C (p.Trp118Ser) n.197G>C c.76G>C (p.Gly26Arg) c.157G>C (p.Gly53Arg) n.494G>C n.487G>C | |
| 11 | g.108138916G>T | CA382507080 | ACAT1 | c.454G>T (p.Gly152Trp) n.549G>T c.*12G>T (n.*12G>T) c.184G>T (p.Gly62Trp) c.91G>T (p.Gly31Trp) c.139G>T (p.Gly47Trp) n.542G>T c.260G>T c.353G>T (p.Trp118Leu) n.197G>T c.76G>T (p.Gly26Trp) c.157G>T (p.Gly53Trp) n.494G>T n.487G>T | |
| 11 | g.108138917G>A | CA382507083 | ACAT1 | c.455G>A (p.Gly152Glu) n.550G>A c.*13G>A (n.*13G>A) c.185G>A (p.Gly62Glu) c.92G>A (p.Gly31Glu) c.140G>A (p.Gly47Glu) n.543G>A c.261G>A c.354G>A (p.Trp118Ter) n.198G>A c.77G>A (p.Gly26Glu) c.158G>A (p.Gly53Glu) n.495G>A n.488G>A | |
| 11 | g.108138917G>C | CA275331 | ACAT1 | c.455G>C (p.Gly152Ala) n.550G>C c.*13G>C (n.*13G>C) c.185G>C (p.Gly62Ala) c.92G>C (p.Gly31Ala) c.140G>C (p.Gly47Ala) n.543G>C c.261G>C c.354G>C (p.Trp118Cys) n.198G>C c.77G>C (p.Gly26Ala) c.158G>C (p.Gly53Ala) n.495G>C n.488G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108138917G= | CA1998717018 | ACAT1 | c.455G= (p.Gly152=) n.550G= c.*13G= (n.*13G=) c.185G= (p.Gly62=) c.92G= (p.Gly31=) c.140G= (p.Gly47=) n.543G= c.261G= c.354G= (p.Trp118=) n.198G= c.77G= (p.Gly26=) c.158G= (p.Gly53=) n.495G= n.488G= | |
| 11 | g.108138917G>T | CA382507084 | ACAT1 | c.455G>T (p.Gly152Val) n.550G>T c.*13G>T (n.*13G>T) c.185G>T (p.Gly62Val) c.92G>T (p.Gly31Val) c.140G>T (p.Gly47Val) n.543G>T c.261G>T c.354G>T (p.Trp118Cys) n.198G>T c.77G>T (p.Gly26Val) c.158G>T (p.Gly53Val) n.495G>T n.488G>T | |
| 11 | g.108138918G>A | CA476672066 | ACAT1 | c.456G>A (p.Gly152=) n.551G>A c.*14G>A (n.*14G>A) c.186G>A (p.Gly62=) c.93G>A (p.Gly31=) c.141G>A (p.Gly47=) n.544G>A c.262G>A c.355G>A (p.Asp119Asn) n.199G>A c.78G>A (p.Gly26=) c.159G>A (p.Gly53=) n.496G>A n.489G>A | |
| 11 | g.108138918G>C | CA476672067 | ACAT1 | c.456G>C (p.Gly152=) n.551G>C c.*14G>C (n.*14G>C) c.186G>C (p.Gly62=) c.93G>C (p.Gly31=) c.141G>C (p.Gly47=) n.544G>C c.262G>C c.355G>C (p.Asp119His) n.199G>C c.78G>C (p.Gly26=) c.159G>C (p.Gly53=) n.496G>C n.489G>C | dbSNP gnomAD v4 |
| 11 | g.108138918G= | CA1998717019 | ACAT1 | c.456G= (p.Gly152=) n.551G= c.*14G= (n.*14G=) c.186G= (p.Gly62=) c.93G= (p.Gly31=) c.141G= (p.Gly47=) n.544G= c.262G= c.355G= (p.Asp119=) n.199G= c.78G= (p.Gly26=) c.159G= (p.Gly53=) n.496G= n.489G= | |
| 11 | g.108138918G>T | CA476672068 | ACAT1 | c.456G>T (p.Gly152=) n.551G>T c.*14G>T (n.*14G>T) c.186G>T (p.Gly62=) c.93G>T (p.Gly31=) c.141G>T (p.Gly47=) n.544G>T c.262G>T c.355G>T (p.Asp119Tyr) n.199G>T c.78G>T (p.Gly26=) c.159G>T (p.Gly53=) n.496G>T n.489G>T | |
| 11 | g.108138919A= | CA1998717020 | ACAT1 | c.457A= (p.Met153=) n.552A= c.*15A= (n.*15A=) c.187A= (p.Met63=) c.94A= (p.Met32=) c.142A= (p.Met48=) n.545A= c.263A= c.356A= (p.Asp119=) n.200A= c.79A= (p.Met27=) c.160A= (p.Met54=) n.497A= n.490A= | |
| 11 | g.108138919A>C | CA382507085 | ACAT1 | c.457A>C (p.Met153Leu) n.552A>C c.*15A>C (n.*15A>C) c.187A>C (p.Met63Leu) c.94A>C (p.Met32Leu) c.142A>C (p.Met48Leu) n.545A>C c.263A>C c.356A>C (p.Asp119Ala) n.200A>C c.79A>C (p.Met27Leu) c.160A>C (p.Met54Leu) n.497A>C n.490A>C | |
| 11 | g.108138919A>G | CA382507086 | ACAT1 | c.457A>G (p.Met153Val) n.552A>G c.*15A>G (n.*15A>G) c.187A>G (p.Met63Val) c.94A>G (p.Met32Val) c.142A>G (p.Met48Val) n.545A>G c.263A>G c.356A>G (p.Asp119Gly) n.200A>G c.79A>G (p.Met27Val) c.160A>G (p.Met54Val) n.497A>G n.490A>G | dbSNP gnomAD v2 |
| 11 | g.108138919A>T | CA382507087 | ACAT1 | c.457A>T (p.Met153Leu) n.552A>T c.*15A>T (n.*15A>T) c.187A>T (p.Met63Leu) c.94A>T (p.Met32Leu) c.142A>T (p.Met48Leu) n.545A>T c.263A>T c.356A>T (p.Asp119Val) n.200A>T c.79A>T (p.Met27Leu) c.160A>T (p.Met54Leu) n.497A>T n.490A>T | |
| 11 | g.108138920T>A | CA382507088 | ACAT1 | c.458T>A (p.Met153Lys) n.553T>A c.*16T>A (n.*16T>A) c.188T>A (p.Met63Lys) c.95T>A (p.Met32Lys) c.143T>A (p.Met48Lys) n.546T>A c.264T>A c.357T>A (p.Asp119Glu) n.201T>A c.80T>A (p.Met27Lys) c.161T>A (p.Met54Lys) n.498T>A n.491T>A | |
| 11 | g.108138920T>C | CA382507089 | ACAT1 | c.458T>C (p.Met153Thr) n.553T>C c.*16T>C (n.*16T>C) c.188T>C (p.Met63Thr) c.95T>C (p.Met32Thr) c.143T>C (p.Met48Thr) n.546T>C c.264T>C c.357T>C (p.Asp119=) n.201T>C c.80T>C (p.Met27Thr) c.161T>C (p.Met54Thr) n.498T>C n.491T>C | |
| 11 | g.108138920T>G | CA382507090 | ACAT1 | c.458T>G (p.Met153Arg) n.553T>G c.*16T>G (n.*16T>G) c.188T>G (p.Met63Arg) c.95T>G (p.Met32Arg) c.143T>G (p.Met48Arg) n.546T>G c.264T>G c.357T>G (p.Asp119Glu) n.201T>G c.80T>G (p.Met27Arg) c.161T>G (p.Met54Arg) n.498T>G n.491T>G | |
| 11 | g.108138921G>A | CA382507091 | ACAT1 | c.459G>A (p.Met153Ile) n.554G>A c.*17G>A (n.*17G>A) c.189G>A (p.Met63Ile) c.96G>A (p.Met32Ile) c.144G>A (p.Met48Ile) n.547G>A c.265G>A c.358G>A (p.Gly120Arg) n.202G>A c.81G>A (p.Met27Ile) c.162G>A (p.Met54Ile) n.499G>A n.492G>A | ClinVar |
| 11 | g.108138921G>C | CA382507092 | ACAT1 | c.459G>C (p.Met153Ile) n.554G>C c.*17G>C (n.*17G>C) c.189G>C (p.Met63Ile) c.96G>C (p.Met32Ile) c.144G>C (p.Met48Ile) n.547G>C c.265G>C c.358G>C (p.Gly120Arg) n.202G>C c.81G>C (p.Met27Ile) c.162G>C (p.Met54Ile) n.499G>C n.492G>C | |
| 11 | g.108138921G>T | CA382507093 | ACAT1 | c.459G>T (p.Met153Ile) n.554G>T c.*17G>T (n.*17G>T) c.189G>T (p.Met63Ile) c.96G>T (p.Met32Ile) c.144G>T (p.Met48Ile) n.547G>T c.265G>T c.358G>T (p.Gly120Ter) n.202G>T c.81G>T (p.Met27Ile) c.162G>T (p.Met54Ile) n.499G>T n.492G>T | |
| 11 | g.108138922G>A | CA382507096 | ACAT1 | c.460G>A (p.Glu154Lys) n.555G>A c.*18G>A (n.*18G>A) c.190G>A (p.Glu64Lys) c.97G>A (p.Glu33Lys) c.145G>A (p.Glu49Lys) n.548G>A c.266G>A c.359G>A (p.Gly120Glu) n.203G>A c.82G>A (p.Glu28Lys) c.163G>A (p.Glu55Lys) n.500G>A n.493G>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.108138922G>C | CA382507095 | ACAT1 | c.460G>C (p.Glu154Gln) n.555G>C c.*18G>C (n.*18G>C) c.190G>C (p.Glu64Gln) c.97G>C (p.Glu33Gln) c.145G>C (p.Glu49Gln) n.548G>C c.266G>C c.359G>C (p.Gly120Ala) n.203G>C c.82G>C (p.Glu28Gln) c.163G>C (p.Glu55Gln) n.500G>C n.493G>C | |
| 11 | g.108138922G= | CA1998717021 | ACAT1 | c.460G= (p.Glu154=) n.555G= c.*18G= (n.*18G=) c.190G= (p.Glu64=) c.97G= (p.Glu33=) c.145G= (p.Glu49=) n.548G= c.266G= c.359G= (p.Gly120=) n.203G= c.82G= (p.Glu28=) c.163G= (p.Glu55=) n.500G= n.493G= | |
| 11 | g.108138922G>T | CA382507094 | ACAT1 | c.460G>T (p.Glu154Ter) n.555G>T c.*18G>T (n.*18G>T) c.190G>T (p.Glu64Ter) c.97G>T (p.Glu33Ter) c.145G>T (p.Glu49Ter) n.548G>T c.266G>T c.359G>T (p.Gly120Val) n.203G>T c.82G>T (p.Glu28Ter) c.163G>T (p.Glu55Ter) n.500G>T n.493G>T | dbSNP gnomAD v2 |
| 11 | g.108138923A= | CA1998717022 | ACAT1 | c.461A= (p.Glu154=) n.556A= c.*19A= (n.*19A=) c.191A= (p.Glu64=) c.98A= (p.Glu33=) c.146A= (p.Glu49=) n.549A= c.267A= c.360A= (p.Gly120=) n.204A= c.83A= (p.Glu28=) c.164A= (p.Glu55=) n.501A= n.494A= | |
| 11 | g.108138923A>C | CA6263143 | ACAT1 | c.461A>C (p.Glu154Ala) n.556A>C c.*19A>C (n.*19A>C) c.191A>C (p.Glu64Ala) c.98A>C (p.Glu33Ala) c.146A>C (p.Glu49Ala) n.549A>C c.267A>C c.360A>C (p.Gly120=) n.204A>C c.83A>C (p.Glu28Ala) c.164A>C (p.Glu55Ala) n.501A>C n.494A>C | dbSNP ExAC gnomAD v2 |
| 11 | g.108138923A>G | CA382507097 | ACAT1 | c.461A>G (p.Glu154Gly) n.556A>G c.*19A>G (n.*19A>G) c.191A>G (p.Glu64Gly) c.98A>G (p.Glu33Gly) c.146A>G (p.Glu49Gly) n.549A>G c.267A>G c.360A>G (p.Gly120=) n.204A>G c.83A>G (p.Glu28Gly) c.164A>G (p.Glu55Gly) n.501A>G n.494A>G | |
| 11 | g.108138923A>T | CA382507098 | ACAT1 | c.461A>T (p.Glu154Val) n.556A>T c.*19A>T (n.*19A>T) c.191A>T (p.Glu64Val) c.98A>T (p.Glu33Val) c.146A>T (p.Glu49Val) n.549A>T c.267A>T c.360A>T (p.Gly120=) n.204A>T c.83A>T (p.Glu28Val) c.164A>T (p.Glu55Val) n.501A>T n.494A>T | |
| 11 | g.108138923_108138944delinsAGAGCATGTCCAATGTTCCATA | CA1998717023 | ACAT1 | c.461_482delinsAGAGCATGTCCAATGTTCCATA (p.Glu154=) n.556_577delinsAGAGCATGTCCAATGTTCCATA c.*19_*40delinsAGAGCATGTCCAATGTTCCATA (n.*19_*40delinsAGAGCATGTCCAATGTTCCATA) c.191_212delinsAGAGCATGTCCAATGTTCCATA (p.Glu64=) c.98_119delinsAGAGCATGTCCAATGTTCCATA (p.Glu33=) c.146_167delinsAGAGCATGTCCAATGTTCCATA (p.Glu49=) n.549_570delinsAGAGCATGTCCAATGTTCCATA c.267_288delinsAGAGCATGTCCAATGTTCCATA c.360_381delinsAGAGCATGTCCAATGTTCCATA (p.Gly120=) n.204_225delinsAGAGCATGTCCAATGTTCCATA c.83_104delinsAGAGCATGTCCAATGTTCCATA (p.Glu28=) c.164_185delinsAGAGCATGTCCAATGTTCCATA (p.Glu55=) n.501_522delinsAGAGCATGTCCAATGTTCCATA n.494_515delinsAGAGCATGTCCAATGTTCCATA | |
| 11 | g.108138924G>A | CA476672069 | ACAT1 | c.462G>A (p.Glu154=) n.557G>A c.*20G>A (n.*20G>A) c.192G>A (p.Glu64=) c.99G>A (p.Glu33=) c.147G>A (p.Glu49=) n.550G>A c.268G>A c.361G>A (p.Glu121Lys) n.205G>A c.84G>A (p.Glu28=) c.165G>A (p.Glu55=) n.502G>A n.495G>A | COSMIC |
| 11 | g.108138924G>C | CA382507099 | ACAT1 | c.462G>C (p.Glu154Asp) n.557G>C c.*20G>C (n.*20G>C) c.192G>C (p.Glu64Asp) c.99G>C (p.Glu33Asp) c.147G>C (p.Glu49Asp) n.550G>C c.268G>C c.361G>C (p.Glu121Gln) n.205G>C c.84G>C (p.Glu28Asp) c.165G>C (p.Glu55Asp) n.502G>C n.495G>C | |
| 11 | g.108138924G>T | CA382507100 | ACAT1 | c.462G>T (p.Glu154Asp) n.557G>T c.*20G>T (n.*20G>T) c.192G>T (p.Glu64Asp) c.99G>T (p.Glu33Asp) c.147G>T (p.Glu49Asp) n.550G>T c.268G>T c.361G>T (p.Glu121Ter) n.205G>T c.84G>T (p.Glu28Asp) c.165G>T (p.Glu55Asp) n.502G>T n.495G>T | |
| 11 | g.108138924_108138944delinsTCCTC | CA915947691 | ACAT1 | c.462_482delinsTCCTC (p.Glu154AspfsTer4) n.557_577delinsTCCTC c.*20_*40delinsTCCTC (n.*20_*40delinsTCCTC) c.192_212delinsTCCTC (p.Glu64AspfsTer4) c.99_119delinsTCCTC (p.Glu33AspfsTer4) c.147_167delinsTCCTC (p.Glu49AspfsTer4) n.550_570delinsTCCTC c.268_288delinsTCCTC c.361_381delinsTCCTC (p.Glu121SerfsTer?) n.205_225delinsTCCTC c.84_104delinsTCCTC (p.Glu28AspfsTer4) c.165_185delinsTCCTC (p.Glu55AspfsTer4) n.502_522delinsTCCTC n.495_515delinsTCCTC | ClinVar dbSNP |
| 11 | g.108138925A>C | CA382507101 | ACAT1 | c.463A>C (p.Ser155Arg) n.558A>C c.*21A>C (n.*21A>C) c.193A>C (p.Ser65Arg) c.100A>C (p.Ser34Arg) c.148A>C (p.Ser50Arg) n.551A>C c.269A>C c.362A>C (p.Glu121Ala) n.206A>C c.85A>C (p.Ser29Arg) c.166A>C (p.Ser56Arg) n.503A>C n.496A>C | |
| 11 | g.108138925A>G | CA382507102 | ACAT1 | c.463A>G (p.Ser155Gly) n.558A>G c.*21A>G (n.*21A>G) c.193A>G (p.Ser65Gly) c.100A>G (p.Ser34Gly) c.148A>G (p.Ser50Gly) n.551A>G c.269A>G c.362A>G (p.Glu121Gly) n.206A>G c.85A>G (p.Ser29Gly) c.166A>G (p.Ser56Gly) n.503A>G n.496A>G | |
| 11 | g.108138925A>T | CA382507103 | ACAT1 | c.463A>T (p.Ser155Cys) n.558A>T c.*21A>T (n.*21A>T) c.193A>T (p.Ser65Cys) c.100A>T (p.Ser34Cys) c.148A>T (p.Ser50Cys) n.551A>T c.269A>T c.362A>T (p.Glu121Val) n.206A>T c.85A>T (p.Ser29Cys) c.166A>T (p.Ser56Cys) n.503A>T n.496A>T | |
| 11 | g.108138926_108138928del | CA2615814631 | ACAT1 | c.464_466del (p.Ser155del) n.559_561del c.*22_*24del (n.*22_*24del) c.194_196del (p.Ser65del) c.101_103del (p.Ser34del) c.149_151del (p.Ser50del) n.552_554del c.270_272del c.363_365del (p.Glu121_His122delinsAsp) n.207_209del c.86_88del (p.Ser29del) c.167_169del (p.Ser56del) n.504_506del n.497_499del | gnomAD v4 |
| 11 | g.108138926G>A | CA382507104 | ACAT1 | c.464G>A (p.Ser155Asn) n.559G>A c.*22G>A (n.*22G>A) c.194G>A (p.Ser65Asn) c.101G>A (p.Ser34Asn) c.149G>A (p.Ser50Asn) n.552G>A c.270G>A c.363G>A (p.Glu121=) n.207G>A c.86G>A (p.Ser29Asn) c.167G>A (p.Ser56Asn) n.504G>A n.497G>A | |
| 11 | g.108138926G>C | CA382507105 | ACAT1 | c.464G>C (p.Ser155Thr) n.559G>C c.*22G>C (n.*22G>C) c.194G>C (p.Ser65Thr) c.101G>C (p.Ser34Thr) c.149G>C (p.Ser50Thr) n.552G>C c.270G>C c.363G>C (p.Glu121Asp) n.207G>C c.86G>C (p.Ser29Thr) c.167G>C (p.Ser56Thr) n.504G>C n.497G>C | |
| 11 | g.108138926G>T | CA382507106 | ACAT1 | c.464G>T (p.Ser155Ile) n.559G>T c.*22G>T (n.*22G>T) c.194G>T (p.Ser65Ile) c.101G>T (p.Ser34Ile) c.149G>T (p.Ser50Ile) n.552G>T c.270G>T c.363G>T (p.Glu121Asp) n.207G>T c.86G>T (p.Ser29Ile) c.167G>T (p.Ser56Ile) n.504G>T n.497G>T |