WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.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.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.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.108138935A= | CA1998717027 | ACAT1 | c.473A= (p.Asn158=) n.568A= c.*31A= (n.*31A=) c.203A= (p.Asn68=) c.110A= (p.Asn37=) c.158A= (p.Asn53=) n.561A= c.279A= c.372A= (p.Gln124=) n.216A= c.95A= (p.Asn32=) c.176A= (p.Asn59=) n.513A= n.506A= | |
| 11 | g.108138935A>C | CA382507126 | ACAT1 | c.473A>C (p.Asn158Thr) n.568A>C c.*31A>C (n.*31A>C) c.203A>C (p.Asn68Thr) c.110A>C (p.Asn37Thr) c.158A>C (p.Asn53Thr) n.561A>C c.279A>C c.372A>C (p.Gln124His) n.216A>C c.95A>C (p.Asn32Thr) c.176A>C (p.Asn59Thr) n.513A>C n.506A>C | |
| 11 | g.108138935A>G | CA275332 | ACAT1 | c.473A>G (p.Asn158Ser) n.568A>G c.*31A>G (n.*31A>G) c.203A>G (p.Asn68Ser) c.110A>G (p.Asn37Ser) c.158A>G (p.Asn53Ser) n.561A>G c.279A>G c.372A>G (p.Gln124=) n.216A>G c.95A>G (p.Asn32Ser) c.176A>G (p.Asn59Ser) n.513A>G n.506A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108138935A>T | CA382507125 | ACAT1 | c.473A>T (p.Asn158Ile) n.568A>T c.*31A>T (n.*31A>T) c.203A>T (p.Asn68Ile) c.110A>T (p.Asn37Ile) c.158A>T (p.Asn53Ile) n.561A>T c.279A>T c.372A>T (p.Gln124His) n.216A>T c.95A>T (p.Asn32Ile) c.176A>T (p.Asn59Ile) n.513A>T n.506A>T | |
| 11 | g.108138936T>A | CA382507127 | ACAT1 | c.474T>A (p.Asn158Lys) n.569T>A c.*32T>A (n.*32T>A) c.204T>A (p.Asn68Lys) c.111T>A (p.Asn37Lys) c.159T>A (p.Asn53Lys) n.562T>A c.280T>A c.373T>A (p.Cys125Ser) n.217T>A c.96T>A (p.Asn32Lys) c.177T>A (p.Asn59Lys) n.514T>A n.507T>A | |
| 11 | g.108138936T>C | CA476672076 | ACAT1 | c.474T>C (p.Asn158=) n.569T>C c.*32T>C (n.*32T>C) c.204T>C (p.Asn68=) c.111T>C (p.Asn37=) c.159T>C (p.Asn53=) n.562T>C c.280T>C c.373T>C (p.Cys125Arg) n.217T>C c.96T>C (p.Asn32=) c.177T>C (p.Asn59=) n.514T>C n.507T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.108138936T>G | CA382507128 | ACAT1 | c.474T>G (p.Asn158Lys) n.569T>G c.*32T>G (n.*32T>G) c.204T>G (p.Asn68Lys) c.111T>G (p.Asn37Lys) c.159T>G (p.Asn53Lys) n.562T>G c.280T>G c.373T>G (p.Cys125Gly) n.217T>G c.96T>G (p.Asn32Lys) c.177T>G (p.Asn59Lys) n.514T>G n.507T>G | |
| 11 | g.108138936T= | CA1998717028 | ACAT1 | c.474T= (p.Asn158=) n.569T= c.*32T= (n.*32T=) c.204T= (p.Asn68=) c.111T= (p.Asn37=) c.159T= (p.Asn53=) n.562T= c.280T= c.373T= (p.Cys125=) n.217T= c.96T= (p.Asn32=) c.177T= (p.Asn59=) n.514T= n.507T= | |
| 11 | g.108138937G>A | CA382507129 | ACAT1 | c.475G>A (p.Val159Ile) n.570G>A c.*33G>A (n.*33G>A) c.205G>A (p.Val69Ile) c.112G>A (p.Val38Ile) c.160G>A (p.Val54Ile) n.563G>A c.281G>A c.374G>A (p.Cys125Tyr) n.218G>A c.97G>A (p.Val33Ile) c.178G>A (p.Val60Ile) n.515G>A n.508G>A | ClinVar |
| 11 | g.108138937G>C | CA382507130 | ACAT1 | c.475G>C (p.Val159Leu) n.570G>C c.*33G>C (n.*33G>C) c.205G>C (p.Val69Leu) c.112G>C (p.Val38Leu) c.160G>C (p.Val54Leu) n.563G>C c.281G>C c.374G>C (p.Cys125Ser) n.218G>C c.97G>C (p.Val33Leu) c.178G>C (p.Val60Leu) n.515G>C n.508G>C | |
| 11 | g.108138937G>T | CA382507131 | ACAT1 | c.475G>T (p.Val159Phe) n.570G>T c.*33G>T (n.*33G>T) c.205G>T (p.Val69Phe) c.112G>T (p.Val38Phe) c.160G>T (p.Val54Phe) n.563G>T c.281G>T c.374G>T (p.Cys125Phe) n.218G>T c.97G>T (p.Val33Phe) c.178G>T (p.Val60Phe) n.515G>T n.508G>T | |
| 11 | g.108138938T>A | CA382507132 | ACAT1 | c.476T>A (p.Val159Asp) n.571T>A c.*34T>A (n.*34T>A) c.206T>A (p.Val69Asp) c.113T>A (p.Val38Asp) c.161T>A (p.Val54Asp) n.564T>A c.282T>A c.375T>A (p.Cys125Ter) n.219T>A c.98T>A (p.Val33Asp) c.179T>A (p.Val60Asp) n.516T>A n.509T>A | |
| 11 | g.108138938T>C | CA382507133 | ACAT1 | c.476T>C (p.Val159Ala) n.571T>C c.*34T>C (n.*34T>C) c.206T>C (p.Val69Ala) c.113T>C (p.Val38Ala) c.161T>C (p.Val54Ala) n.564T>C c.282T>C c.375T>C (p.Cys125=) n.219T>C c.98T>C (p.Val33Ala) c.179T>C (p.Val60Ala) n.516T>C n.509T>C | dbSNP |
| 11 | g.108138938T>G | CA382507134 | ACAT1 | c.476T>G (p.Val159Gly) n.571T>G c.*34T>G (n.*34T>G) c.206T>G (p.Val69Gly) c.113T>G (p.Val38Gly) c.161T>G (p.Val54Gly) n.564T>G c.282T>G c.375T>G (p.Cys125Trp) n.219T>G c.98T>G (p.Val33Gly) c.179T>G (p.Val60Gly) n.516T>G n.509T>G | |
| 11 | g.108138938T= | CA1998717029 | ACAT1 | c.476T= (p.Val159=) n.571T= c.*34T= (n.*34T=) c.206T= (p.Val69=) c.113T= (p.Val38=) c.161T= (p.Val54=) n.564T= c.282T= c.375T= (p.Cys125=) n.219T= c.98T= (p.Val33=) c.179T= (p.Val60=) n.516T= n.509T= | |
| 11 | g.108138939T>A | CA476672078 | ACAT1 | c.477T>A (p.Val159=) n.572T>A c.*35T>A (n.*35T>A) c.207T>A (p.Val69=) c.114T>A (p.Val38=) c.162T>A (p.Val54=) n.565T>A c.283T>A c.376T>A (p.Ser126Thr) n.220T>A c.99T>A (p.Val33=) c.180T>A (p.Val60=) n.517T>A n.510T>A | |
| 11 | g.108138939T>C | CA476672079 | ACAT1 | c.477T>C (p.Val159=) n.572T>C c.*35T>C (n.*35T>C) c.207T>C (p.Val69=) c.114T>C (p.Val38=) c.162T>C (p.Val54=) n.565T>C c.283T>C c.376T>C (p.Ser126Pro) n.220T>C c.99T>C (p.Val33=) c.180T>C (p.Val60=) n.517T>C n.510T>C | ClinVar dbSNP COSMIC |
| 11 | g.108138939T>G | CA476672080 | ACAT1 | c.477T>G (p.Val159=) n.572T>G c.*35T>G (n.*35T>G) c.207T>G (p.Val69=) c.114T>G (p.Val38=) c.162T>G (p.Val54=) n.565T>G c.283T>G c.376T>G (p.Ser126Ala) n.220T>G c.99T>G (p.Val33=) c.180T>G (p.Val60=) n.517T>G n.510T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108138939T= | CA1998717030 | ACAT1 | c.477T= (p.Val159=) n.572T= c.*35T= (n.*35T=) c.207T= (p.Val69=) c.114T= (p.Val38=) c.162T= (p.Val54=) n.565T= c.283T= c.376T= (p.Ser126=) n.220T= c.99T= (p.Val33=) c.180T= (p.Val60=) n.517T= n.510T= | |
| 11 | g.108138940C>A | CA382507135 | ACAT1 | c.478C>A (p.Pro160Thr) n.573C>A c.*36C>A (n.*36C>A) c.208C>A (p.Pro70Thr) c.115C>A (p.Pro39Thr) c.163C>A (p.Pro55Thr) n.566C>A c.284C>A c.377C>A (p.Ser126Tyr) n.221C>A c.100C>A (p.Pro34Thr) c.181C>A (p.Pro61Thr) n.518C>A n.511C>A | |
| 11 | g.108138940C>G | CA382507136 | ACAT1 | c.478C>G (p.Pro160Ala) n.573C>G c.*36C>G (n.*36C>G) c.208C>G (p.Pro70Ala) c.115C>G (p.Pro39Ala) c.163C>G (p.Pro55Ala) n.566C>G c.284C>G c.377C>G (p.Ser126Cys) n.221C>G c.100C>G (p.Pro34Ala) c.181C>G (p.Pro61Ala) n.518C>G n.511C>G | |
| 11 | g.108138940C>T | CA382507137 | ACAT1 | c.478C>T (p.Pro160Ser) n.573C>T c.*36C>T (n.*36C>T) c.208C>T (p.Pro70Ser) c.115C>T (p.Pro39Ser) c.163C>T (p.Pro55Ser) n.566C>T c.284C>T c.377C>T (p.Ser126Phe) n.221C>T c.100C>T (p.Pro34Ser) c.181C>T (p.Pro61Ser) n.518C>T n.511C>T | gnomAD v4 |
| 11 | g.108138941C>A | CA382507139 | ACAT1 | c.479C>A (p.Pro160Gln) n.574C>A c.*37C>A (n.*37C>A) c.209C>A (p.Pro70Gln) c.116C>A (p.Pro39Gln) c.164C>A (p.Pro55Gln) n.567C>A c.285C>A c.378C>A (p.Ser126=) n.222C>A c.101C>A (p.Pro34Gln) c.182C>A (p.Pro61Gln) n.519C>A n.512C>A | |
| 11 | g.108138941C>G | CA382507140 | ACAT1 | c.479C>G (p.Pro160Arg) n.574C>G c.*37C>G (n.*37C>G) c.209C>G (p.Pro70Arg) c.116C>G (p.Pro39Arg) c.164C>G (p.Pro55Arg) n.567C>G c.285C>G c.378C>G (p.Ser126=) n.222C>G c.101C>G (p.Pro34Arg) c.182C>G (p.Pro61Arg) n.519C>G n.512C>G | |
| 11 | g.108138941C>T | CA382507138 | ACAT1 | c.479C>T (p.Pro160Leu) n.574C>T c.*37C>T (n.*37C>T) c.209C>T (p.Pro70Leu) c.116C>T (p.Pro39Leu) c.164C>T (p.Pro55Leu) n.567C>T c.285C>T c.378C>T (p.Ser126=) n.222C>T c.101C>T (p.Pro34Leu) c.182C>T (p.Pro61Leu) n.519C>T n.512C>T | |
| 11 | g.108138942A= | CA1998717031 | ACAT1 | c.480A= (p.Pro160=) n.575A= c.*38A= (n.*38A=) c.210A= (p.Pro70=) c.117A= (p.Pro39=) c.165A= (p.Pro55=) n.568A= c.286A= c.379A= (p.Ile127=) n.223A= c.102A= (p.Pro34=) c.183A= (p.Pro61=) n.520A= n.513A= | |
| 11 | g.108138942A>C | CA476672081 | ACAT1 | c.480A>C (p.Pro160=) n.575A>C c.*38A>C (n.*38A>C) c.210A>C (p.Pro70=) c.117A>C (p.Pro39=) c.165A>C (p.Pro55=) n.568A>C c.286A>C c.379A>C (p.Ile127Leu) n.223A>C c.102A>C (p.Pro34=) c.183A>C (p.Pro61=) n.520A>C n.513A>C | |
| 11 | g.108138942A>G | CA6263145 | ACAT1 | c.480A>G (p.Pro160=) n.575A>G c.*38A>G (n.*38A>G) c.210A>G (p.Pro70=) c.117A>G (p.Pro39=) c.165A>G (p.Pro55=) n.568A>G c.286A>G c.379A>G (p.Ile127Val) n.223A>G c.102A>G (p.Pro34=) c.183A>G (p.Pro61=) n.520A>G n.513A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.108138942A>T | CA476672083 | ACAT1 | c.480A>T (p.Pro160=) n.575A>T c.*38A>T (n.*38A>T) c.210A>T (p.Pro70=) c.117A>T (p.Pro39=) c.165A>T (p.Pro55=) n.568A>T c.286A>T c.379A>T (p.Ile127Leu) n.223A>T c.102A>T (p.Pro34=) c.183A>T (p.Pro61=) n.520A>T n.513A>T | |
| 11 | g.108138943T>A | CA382507141 | ACAT1 | c.481T>A (p.Tyr161Asn) n.576T>A c.*39T>A (n.*39T>A) c.211T>A (p.Tyr71Asn) c.118T>A (p.Tyr40Asn) c.166T>A (p.Tyr56Asn) n.569T>A c.287T>A c.380T>A (p.Ile127Lys) n.224T>A c.103T>A (p.Tyr35Asn) c.184T>A (p.Tyr62Asn) n.521T>A n.514T>A | |
| 11 | g.108138943T>C | CA228403362 | ACAT1 | c.481T>C (p.Tyr161His) n.576T>C c.*39T>C (n.*39T>C) c.211T>C (p.Tyr71His) c.118T>C (p.Tyr40His) c.166T>C (p.Tyr56His) n.569T>C c.287T>C c.380T>C (p.Ile127Thr) n.224T>C c.103T>C (p.Tyr35His) c.184T>C (p.Tyr62His) n.521T>C n.514T>C | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.108138943T>G | CA382507142 | ACAT1 | c.481T>G (p.Tyr161Asp) n.576T>G c.*39T>G (n.*39T>G) c.211T>G (p.Tyr71Asp) c.118T>G (p.Tyr40Asp) c.166T>G (p.Tyr56Asp) n.569T>G c.287T>G c.380T>G (p.Ile127Arg) n.224T>G c.103T>G (p.Tyr35Asp) c.184T>G (p.Tyr62Asp) n.521T>G n.514T>G | |
| 11 | g.108138943T= | CA1998717032 | ACAT1 | c.481T= (p.Tyr161=) n.576T= c.*39T= (n.*39T=) c.211T= (p.Tyr71=) c.118T= (p.Tyr40=) c.166T= (p.Tyr56=) n.569T= c.287T= c.380T= (p.Ile127=) n.224T= c.103T= (p.Tyr35=) c.184T= (p.Tyr62=) n.521T= n.514T= | |
| 11 | g.108138944A= | CA1998717033 | ACAT1 | c.482A= (p.Tyr161=) n.577A= c.*40A= (n.*40A=) c.212A= (p.Tyr71=) c.119A= (p.Tyr40=) c.167A= (p.Tyr56=) n.570A= c.288A= c.381A= (p.Ile127=) n.225A= c.104A= (p.Tyr35=) c.185A= (p.Tyr62=) n.522A= n.515A= | |
| 11 | g.108138944A>C | CA382507143 | ACAT1 | c.482A>C (p.Tyr161Ser) n.577A>C c.*40A>C (n.*40A>C) c.212A>C (p.Tyr71Ser) c.119A>C (p.Tyr40Ser) c.167A>C (p.Tyr56Ser) n.570A>C c.288A>C c.381A>C (p.Ile127=) n.225A>C c.104A>C (p.Tyr35Ser) c.185A>C (p.Tyr62Ser) n.522A>C n.515A>C | |
| 11 | g.108138944A>G | CA228403377 | ACAT1 | c.482A>G (p.Tyr161Cys) n.577A>G c.*40A>G (n.*40A>G) c.212A>G (p.Tyr71Cys) c.119A>G (p.Tyr40Cys) c.167A>G (p.Tyr56Cys) n.570A>G c.288A>G c.381A>G (p.Ile127Met) n.225A>G c.104A>G (p.Tyr35Cys) c.185A>G (p.Tyr62Cys) n.522A>G n.515A>G | dbSNP gnomAD v4 |
| 11 | g.108138944A>T | CA382507144 | ACAT1 | c.482A>T (p.Tyr161Phe) n.577A>T c.*40A>T (n.*40A>T) c.212A>T (p.Tyr71Phe) c.119A>T (p.Tyr40Phe) c.167A>T (p.Tyr56Phe) n.570A>T c.288A>T c.381A>T (p.Ile127=) n.225A>T c.104A>T (p.Tyr35Phe) c.185A>T (p.Tyr62Phe) n.522A>T n.515A>T | |
| 11 | g.108138945T>A | CA382507145 | ACAT1 | c.483T>A (p.Tyr161Ter) n.578T>A c.*41T>A (n.*41T>A) c.213T>A (p.Tyr71Ter) c.120T>A (p.Tyr40Ter) c.168T>A (p.Tyr56Ter) n.571T>A c.289T>A c.382T>A (p.Cys128Ser) n.226T>A c.105T>A (p.Tyr35Ter) c.186T>A (p.Tyr62Ter) n.523T>A n.516T>A | |
| 11 | g.108138945T>C | CA476672086 | ACAT1 | c.483T>C (p.Tyr161=) n.578T>C c.*41T>C (n.*41T>C) c.213T>C (p.Tyr71=) c.120T>C (p.Tyr40=) c.168T>C (p.Tyr56=) n.571T>C c.289T>C c.382T>C (p.Cys128Arg) n.226T>C c.105T>C (p.Tyr35=) c.186T>C (p.Tyr62=) n.523T>C n.516T>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.108138945T>G | CA382507146 | ACAT1 | c.483T>G (p.Tyr161Ter) n.578T>G c.*41T>G (n.*41T>G) c.213T>G (p.Tyr71Ter) c.120T>G (p.Tyr40Ter) c.168T>G (p.Tyr56Ter) n.571T>G c.289T>G c.382T>G (p.Cys128Gly) n.226T>G c.105T>G (p.Tyr35Ter) c.186T>G (p.Tyr62Ter) n.523T>G n.516T>G | ClinVar |
| 11 | g.108138945T= | CA1998717034 | ACAT1 | c.483T= (p.Tyr161=) n.578T= c.*41T= (n.*41T=) c.213T= (p.Tyr71=) c.120T= (p.Tyr40=) c.168T= (p.Tyr56=) n.571T= c.289T= c.382T= (p.Cys128=) n.226T= c.105T= (p.Tyr35=) c.186T= (p.Tyr62=) n.523T= n.516T= | |
| 11 | g.108138946G>A | CA382507147 | ACAT1 | c.484G>A (p.Val162Ile) n.579G>A c.*42G>A (n.*42G>A) c.214G>A (p.Val72Ile) c.121G>A (p.Val41Ile) c.169G>A (p.Val57Ile) n.572G>A c.290G>A c.383G>A (p.Cys128Tyr) n.227G>A c.106G>A (p.Val36Ile) c.187G>A (p.Val63Ile) n.524G>A n.517G>A | dbSNP |
| 11 | g.108138946G>C | CA382507148 | ACAT1 | c.484G>C (p.Val162Leu) n.579G>C c.*42G>C (n.*42G>C) c.214G>C (p.Val72Leu) c.121G>C (p.Val41Leu) c.169G>C (p.Val57Leu) n.572G>C c.290G>C c.383G>C (p.Cys128Ser) n.227G>C c.106G>C (p.Val36Leu) c.187G>C (p.Val63Leu) n.524G>C n.517G>C | |
| 11 | g.108138946G= | CA1998717035 | ACAT1 | c.484G= (p.Val162=) n.579G= c.*42G= (n.*42G=) c.214G= (p.Val72=) c.121G= (p.Val41=) c.169G= (p.Val57=) n.572G= c.290G= c.383G= (p.Cys128=) n.227G= c.106G= (p.Val36=) c.187G= (p.Val63=) n.524G= n.517G= | |
| 11 | g.108138946G>T | CA382507149 | ACAT1 | c.484G>T (p.Val162Leu) n.579G>T c.*42G>T (n.*42G>T) c.214G>T (p.Val72Leu) c.121G>T (p.Val41Leu) c.169G>T (p.Val57Leu) n.572G>T c.290G>T c.383G>T (p.Cys128Phe) n.227G>T c.106G>T (p.Val36Leu) c.187G>T (p.Val63Leu) n.524G>T n.517G>T | |
| 11 | g.108138947T>A | CA382507152 | ACAT1 | c.485T>A (p.Val162Glu) n.580T>A c.*43T>A (n.*43T>A) c.215T>A (p.Val72Glu) c.122T>A (p.Val41Glu) c.170T>A (p.Val57Glu) n.573T>A c.291T>A c.384T>A (p.Cys128Ter) n.228T>A c.107T>A (p.Val36Glu) c.188T>A (p.Val63Glu) n.525T>A n.518T>A |