Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.108132328_108141537delinsTAACA915948963ACAT1c.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
11g.108138909G>ACA6263141ACAT1c.447G>A (p.Val149=)
n.542G>A
c.*5G>A (n.*5G>A)
c.177G>A (p.Val59=)
c.84G>A (p.Val28=)
c.132G>A (p.Val44=)
n.535G>A
c.253G>A
c.346G>A (p.Gly116Ser)
n.190G>A
c.69G>A (p.Val23=)
c.150G>A (p.Val50=)
n.487G>A
n.480G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.108138909G>CCA476672059ACAT1c.447G>C (p.Val149=)
n.542G>C
c.*5G>C (n.*5G>C)
c.177G>C (p.Val59=)
c.84G>C (p.Val28=)
c.132G>C (p.Val44=)
n.535G>C
c.253G>C
c.346G>C (p.Gly116Arg)
n.190G>C
c.69G>C (p.Val23=)
c.150G>C (p.Val50=)
n.487G>C
n.480G>C
11g.108138909G=CA1998717014ACAT1c.447G= (p.Val149=)
n.542G=
c.*5G= (n.*5G=)
c.177G= (p.Val59=)
c.84G= (p.Val28=)
c.132G= (p.Val44=)
n.535G=
c.253G=
c.346G= (p.Gly116=)
n.190G=
c.69G= (p.Val23=)
c.150G= (p.Val50=)
n.487G=
n.480G=
11g.108138909G>TCA476672060ACAT1c.447G>T (p.Val149=)
n.542G>T
c.*5G>T (n.*5G>T)
c.177G>T (p.Val59=)
c.84G>T (p.Val28=)
c.132G>T (p.Val44=)
n.535G>T
c.253G>T
c.346G>T (p.Gly116Cys)
n.190G>T
c.69G>T (p.Val23=)
c.150G>T (p.Val50=)
n.487G>T
n.480G>T
11g.108138910G>ACA382507069ACAT1c.448G>A (p.Ala150Thr)
n.543G>A
c.*6G>A (n.*6G>A)
c.178G>A (p.Ala60Thr)
c.85G>A (p.Ala29Thr)
c.133G>A (p.Ala45Thr)
n.536G>A
c.254G>A
c.347G>A (p.Gly116Asp)
n.191G>A
c.70G>A (p.Ala24Thr)
c.151G>A (p.Ala51Thr)
n.488G>A
n.481G>A
11g.108138910G>CCA382507071ACAT1c.448G>C (p.Ala150Pro)
n.543G>C
c.*6G>C (n.*6G>C)
c.178G>C (p.Ala60Pro)
c.85G>C (p.Ala29Pro)
c.133G>C (p.Ala45Pro)
n.536G>C
c.254G>C
c.347G>C (p.Gly116Ala)
n.191G>C
c.70G>C (p.Ala24Pro)
c.151G>C (p.Ala51Pro)
n.488G>C
n.481G>C
11g.108138910G>TCA382507070ACAT1c.448G>T (p.Ala150Ser)
n.543G>T
c.*6G>T (n.*6G>T)
c.178G>T (p.Ala60Ser)
c.85G>T (p.Ala29Ser)
c.133G>T (p.Ala45Ser)
n.536G>T
c.254G>T
c.347G>T (p.Gly116Val)
n.191G>T
c.70G>T (p.Ala24Ser)
c.151G>T (p.Ala51Ser)
n.488G>T
n.481G>T
11g.108138911C>ACA228403333ACAT1c.449C>A (p.Ala150Glu)
n.544C>A
c.*7C>A (n.*7C>A)
c.179C>A (p.Ala60Glu)
c.86C>A (p.Ala29Glu)
c.134C>A (p.Ala45Glu)
n.537C>A
c.255C>A
c.348C>A (p.Gly116=)
n.192C>A
c.71C>A (p.Ala24Glu)
c.152C>A (p.Ala51Glu)
n.489C>A
n.482C>A
 dbSNP
11g.108138911C=CA1998717015ACAT1c.449C= (p.Ala150=)
n.544C=
c.*7C= (n.*7C=)
c.179C= (p.Ala60=)
c.86C= (p.Ala29=)
c.134C= (p.Ala45=)
n.537C=
c.255C=
c.348C= (p.Gly116=)
n.192C=
c.71C= (p.Ala24=)
c.152C= (p.Ala51=)
n.489C=
n.482C=
11g.108138911C>GCA382507072ACAT1c.449C>G (p.Ala150Gly)
n.544C>G
c.*7C>G (n.*7C>G)
c.179C>G (p.Ala60Gly)
c.86C>G (p.Ala29Gly)
c.134C>G (p.Ala45Gly)
n.537C>G
c.255C>G
c.348C>G (p.Gly116=)
n.192C>G
c.71C>G (p.Ala24Gly)
c.152C>G (p.Ala51Gly)
n.489C>G
n.482C>G
11g.108138911C>TCA382507073ACAT1c.449C>T (p.Ala150Val)
n.544C>T
c.*7C>T (n.*7C>T)
c.179C>T (p.Ala60Val)
c.86C>T (p.Ala29Val)
c.134C>T (p.Ala45Val)
n.537C>T
c.255C>T
c.348C>T (p.Gly116=)
n.192C>T
c.71C>T (p.Ala24Val)
c.152C>T (p.Ala51Val)
n.489C>T
n.482C>T
 dbSNP gnomAD v4
11g.108138912A=CA1998717016ACAT1c.450A= (p.Ala150=)
n.545A=
c.*8A= (n.*8A=)
c.180A= (p.Ala60=)
c.87A= (p.Ala29=)
c.135A= (p.Ala45=)
n.538A=
c.256A=
c.349A= (p.Arg117=)
n.193A=
c.72A= (p.Ala24=)
c.153A= (p.Ala51=)
n.490A=
n.483A=
11g.108138912A>CCA476672061ACAT1c.450A>C (p.Ala150=)
n.545A>C
c.*8A>C (n.*8A>C)
c.180A>C (p.Ala60=)
c.87A>C (p.Ala29=)
c.135A>C (p.Ala45=)
n.538A>C
c.256A>C
c.349A>C (p.Arg117=)
n.193A>C
c.72A>C (p.Ala24=)
c.153A>C (p.Ala51=)
n.490A>C
n.483A>C
11g.108138912A>GCA476672062ACAT1c.450A>G (p.Ala150=)
n.545A>G
c.*8A>G (n.*8A>G)
c.180A>G (p.Ala60=)
c.87A>G (p.Ala29=)
c.135A>G (p.Ala45=)
n.538A>G
c.256A>G
c.349A>G (p.Arg117Gly)
n.193A>G
c.72A>G (p.Ala24=)
c.153A>G (p.Ala51=)
n.490A>G
n.483A>G
11g.108138912A>TCA476672063ACAT1c.450A>T (p.Ala150=)
n.545A>T
c.*8A>T (n.*8A>T)
c.180A>T (p.Ala60=)
c.87A>T (p.Ala29=)
c.135A>T (p.Ala45=)
n.538A>T
c.256A>T
c.349A>T (p.Arg117Trp)
n.193A>T
c.72A>T (p.Ala24=)
c.153A>T (p.Ala51=)
n.490A>T
n.483A>T
 dbSNP
11g.108138913G>ACA382507074ACAT1c.451G>A (p.Gly151Ser)
n.546G>A
c.*9G>A (n.*9G>A)
c.181G>A (p.Gly61Ser)
c.88G>A (p.Gly30Ser)
c.136G>A (p.Gly46Ser)
n.539G>A
c.257G>A
c.350G>A (p.Arg117Lys)
n.194G>A
c.73G>A (p.Gly25Ser)
c.154G>A (p.Gly52Ser)
n.491G>A
n.484G>A
 gnomAD v4
11g.108138913G>CCA382507075ACAT1c.451G>C (p.Gly151Arg)
n.546G>C
c.*9G>C (n.*9G>C)
c.181G>C (p.Gly61Arg)
c.88G>C (p.Gly30Arg)
c.136G>C (p.Gly46Arg)
n.539G>C
c.257G>C
c.350G>C (p.Arg117Thr)
n.194G>C
c.73G>C (p.Gly25Arg)
c.154G>C (p.Gly52Arg)
n.491G>C
n.484G>C
11g.108138913G>TCA382507076ACAT1c.451G>T (p.Gly151Cys)
n.546G>T
c.*9G>T (n.*9G>T)
c.181G>T (p.Gly61Cys)
c.88G>T (p.Gly30Cys)
c.136G>T (p.Gly46Cys)
n.539G>T
c.257G>T
c.350G>T (p.Arg117Met)
n.194G>T
c.73G>T (p.Gly25Cys)
c.154G>T (p.Gly52Cys)
n.491G>T
n.484G>T
11g.108138914G>ACA382507077ACAT1c.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
11g.108138914G>CCA382507078ACAT1c.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
11g.108138914G>TCA382507079ACAT1c.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
11g.108138915T>ACA476672064ACAT1c.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
11g.108138915T>CCA476672065ACAT1c.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
11g.108138915T>GCA6263142ACAT1c.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
11g.108138915T=CA1998717017ACAT1c.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=
11g.108138917_108138937delCA2725143762ACAT1c.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
11g.108138916G>ACA382507082ACAT1c.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
11g.108138916G>CCA382507081ACAT1c.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
11g.108138916G>TCA382507080ACAT1c.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
11g.108138917G>ACA382507083ACAT1c.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
11g.108138917G>CCA275331ACAT1c.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
11g.108138917G=CA1998717018ACAT1c.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=
11g.108138917G>TCA382507084ACAT1c.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
11g.108138918G>ACA476672066ACAT1c.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
11g.108138918G>CCA476672067ACAT1c.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
11g.108138918G=CA1998717019ACAT1c.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=
11g.108138918G>TCA476672068ACAT1c.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
11g.108138919A=CA1998717020ACAT1c.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=
11g.108138919A>CCA382507085ACAT1c.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
11g.108138919A>GCA382507086ACAT1c.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
11g.108138919A>TCA382507087ACAT1c.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
11g.108138920T>ACA382507088ACAT1c.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
11g.108138920T>CCA382507089ACAT1c.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
11g.108138920T>GCA382507090ACAT1c.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
11g.108138921G>ACA382507091ACAT1c.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
11g.108138921G>CCA382507092ACAT1c.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
11g.108138921G>TCA382507093ACAT1c.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
11g.108138922G>ACA382507096ACAT1c.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
11g.108138922G>CCA382507095ACAT1c.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
11g.108138922G=CA1998717021ACAT1c.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=
11g.108138922G>TCA382507094ACAT1c.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
11g.108138923A=CA1998717022ACAT1c.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=
11g.108138923A>CCA6263143ACAT1c.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
11g.108138923A>GCA382507097ACAT1c.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
11g.108138923A>TCA382507098ACAT1c.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
11g.108138923_108138944delinsAGAGCATGTCCAATGTTCCATACA1998717023ACAT1c.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
11g.108138924G>ACA476672069ACAT1c.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
11g.108138924G>CCA382507099ACAT1c.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
11g.108138924G>TCA382507100ACAT1c.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
11g.108138924_108138944delinsTCCTCCA915947691ACAT1c.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
11g.108138925A>CCA382507101ACAT1c.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
11g.108138925A>GCA382507102ACAT1c.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
11g.108138925A>TCA382507103ACAT1c.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
11g.108138926_108138928delCA2615814631ACAT1c.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
11g.108138926G>ACA382507104ACAT1c.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
11g.108138926G>CCA382507105ACAT1c.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
11g.108138926G>TCA382507106ACAT1c.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
11g.108138927C>ACA382507107ACAT1c.465C>A (p.Ser155Arg)
n.560C>A
c.*23C>A (n.*23C>A)
c.195C>A (p.Ser65Arg)
c.102C>A (p.Ser34Arg)
c.150C>A (p.Ser50Arg)
n.553C>A
c.271C>A
c.364C>A (p.His122Asn)
n.208C>A
c.87C>A (p.Ser29Arg)
c.168C>A (p.Ser56Arg)
n.505C>A
n.498C>A
11g.108138927C>GCA382507108ACAT1c.465C>G (p.Ser155Arg)
n.560C>G
c.*23C>G (n.*23C>G)
c.195C>G (p.Ser65Arg)
c.102C>G (p.Ser34Arg)
c.150C>G (p.Ser50Arg)
n.553C>G
c.271C>G
c.364C>G (p.His122Asp)
n.208C>G
c.87C>G (p.Ser29Arg)
c.168C>G (p.Ser56Arg)
n.505C>G
n.498C>G
11g.108138927C>TCA476672070ACAT1c.465C>T (p.Ser155=)
n.560C>T
c.*23C>T (n.*23C>T)
c.195C>T (p.Ser65=)
c.102C>T (p.Ser34=)
c.150C>T (p.Ser50=)
n.553C>T
c.271C>T
c.364C>T (p.His122Tyr)
n.208C>T
c.87C>T (p.Ser29=)
c.168C>T (p.Ser56=)
n.505C>T
n.498C>T
11g.108138928A>CCA382507110ACAT1c.466A>C (p.Met156Leu)
n.561A>C
c.*24A>C (n.*24A>C)
c.196A>C (p.Met66Leu)
c.103A>C (p.Met35Leu)
c.151A>C (p.Met51Leu)
n.554A>C
c.272A>C
c.365A>C (p.His122Pro)
n.209A>C
c.88A>C (p.Met30Leu)
c.169A>C (p.Met57Leu)
n.506A>C
n.499A>C
 gnomAD v4
11g.108138928A>GCA382507111ACAT1c.466A>G (p.Met156Val)
n.561A>G
c.*24A>G (n.*24A>G)
c.196A>G (p.Met66Val)
c.103A>G (p.Met35Val)
c.151A>G (p.Met51Val)
n.554A>G
c.272A>G
c.365A>G (p.His122Arg)
n.209A>G
c.88A>G (p.Met30Val)
c.169A>G (p.Met57Val)
n.506A>G
n.499A>G
 gnomAD v4
11g.108138928A>TCA382507109ACAT1c.466A>T (p.Met156Leu)
n.561A>T
c.*24A>T (n.*24A>T)
c.196A>T (p.Met66Leu)
c.103A>T (p.Met35Leu)
c.151A>T (p.Met51Leu)
n.554A>T
c.272A>T
c.365A>T (p.His122Leu)
n.209A>T
c.88A>T (p.Met30Leu)
c.169A>T (p.Met57Leu)
n.506A>T
n.499A>T
11g.108138929T>ACA382507112ACAT1c.467T>A (p.Met156Lys)
n.562T>A
c.*25T>A (n.*25T>A)
c.197T>A (p.Met66Lys)
c.104T>A (p.Met35Lys)
c.152T>A (p.Met51Lys)
n.555T>A
c.273T>A
c.366T>A (p.His122Gln)
n.210T>A
c.89T>A (p.Met30Lys)
c.170T>A (p.Met57Lys)
n.507T>A
n.500T>A
11g.108138929T>CCA6263144ACAT1c.467T>C (p.Met156Thr)
n.562T>C
c.*25T>C (n.*25T>C)
c.197T>C (p.Met66Thr)
c.104T>C (p.Met35Thr)
c.152T>C (p.Met51Thr)
n.555T>C
c.273T>C
c.366T>C (p.His122=)
n.210T>C
c.89T>C (p.Met30Thr)
c.170T>C (p.Met57Thr)
n.507T>C
n.500T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.108138929T>GCA382507113ACAT1c.467T>G (p.Met156Arg)
n.562T>G
c.*25T>G (n.*25T>G)
c.197T>G (p.Met66Arg)
c.104T>G (p.Met35Arg)
c.152T>G (p.Met51Arg)
n.555T>G
c.273T>G
c.366T>G (p.His122Gln)
n.210T>G
c.89T>G (p.Met30Arg)
c.170T>G (p.Met57Arg)
n.507T>G
n.500T>G
11g.108138929T=CA1998717024ACAT1c.467T= (p.Met156=)
n.562T=
c.*25T= (n.*25T=)
c.197T= (p.Met66=)
c.104T= (p.Met35=)
c.152T= (p.Met51=)
n.555T=
c.273T=
c.366T= (p.His122=)
n.210T=
c.89T= (p.Met30=)
c.170T= (p.Met57=)
n.507T=
n.500T=
11g.108138930G>ACA382507114ACAT1c.468G>A (p.Met156Ile)
n.563G>A
c.*26G>A (n.*26G>A)
c.198G>A (p.Met66Ile)
c.105G>A (p.Met35Ile)
c.153G>A (p.Met51Ile)
n.556G>A
c.274G>A
c.367G>A (p.Val123Ile)
n.211G>A
c.90G>A (p.Met30Ile)
c.171G>A (p.Met57Ile)
n.508G>A
n.501G>A
11g.108138930G>CCA382507116ACAT1c.468G>C (p.Met156Ile)
n.563G>C
c.*26G>C (n.*26G>C)
c.198G>C (p.Met66Ile)
c.105G>C (p.Met35Ile)
c.153G>C (p.Met51Ile)
n.556G>C
c.274G>C
c.367G>C (p.Val123Leu)
n.211G>C
c.90G>C (p.Met30Ile)
c.171G>C (p.Met57Ile)
n.508G>C
n.501G>C
11g.108138930G>TCA382507115ACAT1c.468G>T (p.Met156Ile)
n.563G>T
c.*26G>T (n.*26G>T)
c.198G>T (p.Met66Ile)
c.105G>T (p.Met35Ile)
c.153G>T (p.Met51Ile)
n.556G>T
c.274G>T
c.367G>T (p.Val123Phe)
n.211G>T
c.90G>T (p.Met30Ile)
c.171G>T (p.Met57Ile)
n.508G>T
n.501G>T
 gnomAD v4
11g.108138931T>ACA382507117ACAT1c.469T>A (p.Ser157Thr)
n.564T>A
c.*27T>A (n.*27T>A)
c.199T>A (p.Ser67Thr)
c.106T>A (p.Ser36Thr)
c.154T>A (p.Ser52Thr)
n.557T>A
c.275T>A
c.368T>A (p.Val123Asp)
n.212T>A
c.91T>A (p.Ser31Thr)
c.172T>A (p.Ser58Thr)
n.509T>A
n.502T>A
11g.108138931T>CCA382507118ACAT1c.469T>C (p.Ser157Pro)
n.564T>C
c.*27T>C (n.*27T>C)
c.199T>C (p.Ser67Pro)
c.106T>C (p.Ser36Pro)
c.154T>C (p.Ser52Pro)
n.557T>C
c.275T>C
c.368T>C (p.Val123Ala)
n.212T>C
c.91T>C (p.Ser31Pro)
c.172T>C (p.Ser58Pro)
n.509T>C
n.502T>C
 dbSNP
11g.108138931T>GCA382507119ACAT1c.469T>G (p.Ser157Ala)
n.564T>G
c.*27T>G (n.*27T>G)
c.199T>G (p.Ser67Ala)
c.106T>G (p.Ser36Ala)
c.154T>G (p.Ser52Ala)
n.557T>G
c.275T>G
c.368T>G (p.Val123Gly)
n.212T>G
c.91T>G (p.Ser31Ala)
c.172T>G (p.Ser58Ala)
n.509T>G
n.502T>G
11g.108138931T=CA1998717025ACAT1c.469T= (p.Ser157=)
n.564T=
c.*27T= (n.*27T=)
c.199T= (p.Ser67=)
c.106T= (p.Ser36=)
c.154T= (p.Ser52=)
n.557T=
c.275T=
c.368T= (p.Val123=)
n.212T=
c.91T= (p.Ser31=)
c.172T= (p.Ser58=)
n.509T=
n.502T=
11g.108138932C>ACA382507120ACAT1c.470C>A (p.Ser157Tyr)
n.565C>A
c.*28C>A (n.*28C>A)
c.200C>A (p.Ser67Tyr)
c.107C>A (p.Ser36Tyr)
c.155C>A (p.Ser52Tyr)
n.558C>A
c.276C>A
c.369C>A (p.Val123=)
n.213C>A
c.92C>A (p.Ser31Tyr)
c.173C>A (p.Ser58Tyr)
n.510C>A
n.503C>A
11g.108138932C>GCA382507121ACAT1c.470C>G (p.Ser157Cys)
n.565C>G
c.*28C>G (n.*28C>G)
c.200C>G (p.Ser67Cys)
c.107C>G (p.Ser36Cys)
c.155C>G (p.Ser52Cys)
n.558C>G
c.276C>G
c.369C>G (p.Val123=)
n.213C>G
c.92C>G (p.Ser31Cys)
c.173C>G (p.Ser58Cys)
n.510C>G
n.503C>G
11g.108138932C>TCA382507122ACAT1c.470C>T (p.Ser157Phe)
n.565C>T
c.*28C>T (n.*28C>T)
c.200C>T (p.Ser67Phe)
c.107C>T (p.Ser36Phe)
c.155C>T (p.Ser52Phe)
n.558C>T
c.276C>T
c.369C>T (p.Val123=)
n.213C>T
c.92C>T (p.Ser31Phe)
c.173C>T (p.Ser58Phe)
n.510C>T
n.503C>T
11g.108138933C>ACA145606ACAT1c.471C>A (p.Ser157=)
n.566C>A
c.*29C>A (n.*29C>A)
c.201C>A (p.Ser67=)
c.108C>A (p.Ser36=)
c.156C>A (p.Ser52=)
n.559C>A
c.277C>A
c.370C>A (p.Gln124Lys)
n.214C>A
c.93C>A (p.Ser31=)
c.174C>A (p.Ser58=)
n.511C>A
n.504C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.108138933C=CA1630855327ACAT1c.471C= (p.Ser157=)
n.566C=
c.*29C= (n.*29C=)
c.201C= (p.Ser67=)
c.108C= (p.Ser36=)
c.156C= (p.Ser52=)
n.559C=
c.277C=
c.370C= (p.Gln124=)
n.214C=
c.93C= (p.Ser31=)
c.174C= (p.Ser58=)
n.511C=
n.504C=
11g.108138933C>GCA228403345ACAT1c.471C>G (p.Ser157=)
n.566C>G
c.*29C>G (n.*29C>G)
c.201C>G (p.Ser67=)
c.108C>G (p.Ser36=)
c.156C>G (p.Ser52=)
n.559C>G
c.277C>G
c.370C>G (p.Gln124Glu)
n.214C>G
c.93C>G (p.Ser31=)
c.174C>G (p.Ser58=)
n.511C>G
n.504C>G
 dbSNP
11g.108138933C>TCA476672074ACAT1c.471C>T (p.Ser157=)
n.566C>T
c.*29C>T (n.*29C>T)
c.201C>T (p.Ser67=)
c.108C>T (p.Ser36=)
c.156C>T (p.Ser52=)
n.559C>T
c.277C>T
c.370C>T (p.Gln124Ter)
n.214C>T
c.93C>T (p.Ser31=)
c.174C>T (p.Ser58=)
n.511C>T
n.504C>T
11g.108138934A=CA1998717026ACAT1c.472A= (p.Asn158=)
n.567A=
c.*30A= (n.*30A=)
c.202A= (p.Asn68=)
c.109A= (p.Asn37=)
c.157A= (p.Asn53=)
n.560A=
c.278A=
c.371A= (p.Gln124=)
n.215A=
c.94A= (p.Asn32=)
c.175A= (p.Asn59=)
n.512A=
n.505A=
11g.108138934A>CCA382507123ACAT1c.472A>C (p.Asn158His)
n.567A>C
c.*30A>C (n.*30A>C)
c.202A>C (p.Asn68His)
c.109A>C (p.Asn37His)
c.157A>C (p.Asn53His)
n.560A>C
c.278A>C
c.371A>C (p.Gln124Pro)
n.215A>C
c.94A>C (p.Asn32His)
c.175A>C (p.Asn59His)
n.512A>C
n.505A>C
 dbSNP gnomAD v2 gnomAD v4
11g.108138934A>GCA220226ACAT1c.472A>G (p.Asn158Asp)
n.567A>G
c.*30A>G (n.*30A>G)
c.202A>G (p.Asn68Asp)
c.109A>G (p.Asn37Asp)
c.157A>G (p.Asn53Asp)
n.560A>G
c.278A>G
c.371A>G (p.Gln124Arg)
n.215A>G
c.94A>G (p.Asn32Asp)
c.175A>G (p.Asn59Asp)
n.512A>G
n.505A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.108138934A>TCA382507124ACAT1c.472A>T (p.Asn158Tyr)
n.567A>T
c.*30A>T (n.*30A>T)
c.202A>T (p.Asn68Tyr)
c.109A>T (p.Asn37Tyr)
c.157A>T (p.Asn53Tyr)
n.560A>T
c.278A>T
c.371A>T (p.Gln124Leu)
n.215A>T
c.94A>T (p.Asn32Tyr)
c.175A>T (p.Asn59Tyr)
n.512A>T
n.505A>T
11g.108138935A=CA1998717027ACAT1c.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=
11g.108138935A>CCA382507126ACAT1c.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
11g.108138935A>GCA275332ACAT1c.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
11g.108138935A>TCA382507125ACAT1c.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
11g.108138936T>ACA382507127ACAT1c.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
11g.108138936T>CCA476672076ACAT1c.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
11g.108138936T>GCA382507128ACAT1c.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
11g.108138936T=CA1998717028ACAT1c.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=
11g.108138937G>ACA382507129ACAT1c.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
11g.108138937G>CCA382507130ACAT1c.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
11g.108138937G>TCA382507131ACAT1c.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
11g.108138938T>ACA382507132ACAT1c.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
11g.108138938T>CCA382507133ACAT1c.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
11g.108138938T>GCA382507134ACAT1c.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
11g.108138938T=CA1998717029ACAT1c.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=
11g.108138939T>ACA476672078ACAT1c.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
11g.108138939T>CCA476672079ACAT1c.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
11g.108138939T>GCA476672080ACAT1c.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
11g.108138939T=CA1998717030ACAT1c.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=
11g.108138939_108138940insAATACA2793547855ACAT1c.477_478insAATA (p.Pro160AsnfsTer18)
n.572_573insAATA
c.*35_*36insAATA (n.*35_*36insAATA)
c.207_208insAATA (p.Pro70AsnfsTer18)
c.114_115insAATA (p.Pro39AsnfsTer18)
c.162_163insAATA (p.Pro55AsnfsTer18)
n.565_566insAATA
c.283_284insAATA
c.376_377insAATA (p.Ser126Ter)
n.220_221insAATA
c.99_100insAATA (p.Pro34AsnfsTer18)
c.180_181insAATA (p.Pro61AsnfsTer18)
n.517_518insAATA
n.510_511insAATA
11g.108138940C>ACA382507135ACAT1c.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
11g.108138940C>GCA382507136ACAT1c.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
11g.108138940C>TCA382507137ACAT1c.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
11g.108138940_108138941insACA2793547858ACAT1c.478_479insA (p.Pro160HisfsTer17)
n.573_574insA
c.*36_*37insA (n.*36_*37insA)
c.208_209insA (p.Pro70HisfsTer17)
c.115_116insA (p.Pro39HisfsTer17)
c.163_164insA (p.Pro55HisfsTer17)
n.566_567insA
c.284_285insA
c.377_378insA (p.Ile127HisfsTer3)
n.221_222insA
c.100_101insA (p.Pro34HisfsTer17)
c.181_182insA (p.Pro61HisfsTer17)
n.518_519insA
n.511_512insA
11g.108138941C>ACA382507139ACAT1c.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
11g.108138941C>GCA382507140ACAT1c.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
11g.108138941C>TCA382507138ACAT1c.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
11g.108138942A=CA1998717031ACAT1c.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=
11g.108138942A>CCA476672081ACAT1c.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
11g.108138942A>GCA6263145ACAT1c.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
11g.108138942A>TCA476672083ACAT1c.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
11g.108138943T>ACA382507141ACAT1c.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
11g.108138943T>CCA228403362ACAT1c.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
11g.108138943T>GCA382507142ACAT1c.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
11g.108138943T=CA1998717032ACAT1c.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=
11g.108138944A=CA1998717033ACAT1c.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=
11g.108138944A>CCA382507143ACAT1c.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
11g.108138944A>GCA228403377ACAT1c.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
11g.108138944A>TCA382507144ACAT1c.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
11g.108138945T>ACA382507145ACAT1c.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
11g.108138945T>CCA476672086ACAT1c.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
11g.108138945T>GCA382507146ACAT1c.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
11g.108138945T=CA1998717034ACAT1c.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=
11g.108138946G>ACA382507147ACAT1c.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
11g.108138946G>CCA382507148ACAT1c.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
11g.108138946G=CA1998717035ACAT1c.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=
11g.108138946G>TCA382507149ACAT1c.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
11g.108138947T>ACA382507152ACAT1c.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
11g.108138947T>CCA382507150ACAT1c.485T>C (p.Val162Ala)
n.580T>C
c.*43T>C (n.*43T>C)
c.215T>C (p.Val72Ala)
c.122T>C (p.Val41Ala)
c.170T>C (p.Val57Ala)
n.573T>C
c.291T>C
c.384T>C (p.Cys128=)
n.228T>C
c.107T>C (p.Val36Ala)
c.188T>C (p.Val63Ala)
n.525T>C
n.518T>C
11g.108138947T>GCA382507151ACAT1c.485T>G (p.Val162Gly)
n.580T>G
c.*43T>G (n.*43T>G)
c.215T>G (p.Val72Gly)
c.122T>G (p.Val41Gly)
c.170T>G (p.Val57Gly)
n.573T>G
c.291T>G
c.384T>G (p.Cys128Trp)
n.228T>G
c.107T>G (p.Val36Gly)
c.188T>G (p.Val63Gly)
n.525T>G
n.518T>G
11g.108138948A>CCA476672089ACAT1c.486A>C (p.Val162=)
n.581A>C
c.*44A>C (n.*44A>C)
c.216A>C (p.Val72=)
c.123A>C (p.Val41=)
c.171A>C (p.Val57=)
n.574A>C
c.292A>C
c.385A>C (p.Asn129His)
n.229A>C
c.108A>C (p.Val36=)
c.189A>C (p.Val63=)
n.526A>C
n.519A>C
11g.108138948A>GCA476672090ACAT1c.486A>G (p.Val162=)
n.581A>G
c.*44A>G (n.*44A>G)
c.216A>G (p.Val72=)
c.123A>G (p.Val41=)
c.171A>G (p.Val57=)
n.574A>G
c.292A>G
c.385A>G (p.Asn129Asp)
n.229A>G
c.108A>G (p.Val36=)
c.189A>G (p.Val63=)
n.526A>G
n.519A>G
11g.108138948A>TCA476672091ACAT1c.486A>T (p.Val162=)
n.581A>T
c.*44A>T (n.*44A>T)
c.216A>T (p.Val72=)
c.123A>T (p.Val41=)
c.171A>T (p.Val57=)
n.574A>T
c.292A>T
c.385A>T (p.Asn129Tyr)
n.229A>T
c.108A>T (p.Val36=)
c.189A>T (p.Val63=)
n.526A>T
n.519A>T
11g.108138949A=CA1998717036ACAT1c.487A= (p.Met163=)
n.582A=
c.*45A= (n.*45A=)
c.217A= (p.Met73=)
c.124A= (p.Met42=)
c.172A= (p.Met58=)
n.575A=
c.293A=
c.386A= (p.Asn129=)
n.230A=
c.109A= (p.Met37=)
c.190A= (p.Met64=)
n.527A=
n.520A=
11g.108138949A>CCA382507153ACAT1c.487A>C (p.Met163Leu)
n.582A>C
c.*45A>C (n.*45A>C)
c.217A>C (p.Met73Leu)
c.124A>C (p.Met42Leu)
c.172A>C (p.Met58Leu)
n.575A>C
c.293A>C
c.386A>C (p.Asn129Thr)
n.230A>C
c.109A>C (p.Met37Leu)
c.190A>C (p.Met64Leu)
n.527A>C
n.520A>C
 dbSNP
11g.108138949A>GCA382507154ACAT1c.487A>G (p.Met163Val)
n.582A>G
c.*45A>G (n.*45A>G)
c.217A>G (p.Met73Val)
c.124A>G (p.Met42Val)
c.172A>G (p.Met58Val)
n.575A>G
c.293A>G
c.386A>G (p.Asn129Ser)
n.230A>G
c.109A>G (p.Met37Val)
c.190A>G (p.Met64Val)
n.527A>G
n.520A>G
11g.108138949A>TCA382507155ACAT1c.487A>T (p.Met163Leu)
n.582A>T
c.*45A>T (n.*45A>T)
c.217A>T (p.Met73Leu)
c.124A>T (p.Met42Leu)
c.172A>T (p.Met58Leu)
n.575A>T
c.293A>T
c.386A>T (p.Asn129Ile)
n.230A>T
c.109A>T (p.Met37Leu)
c.190A>T (p.Met64Leu)
n.527A>T
n.520A>T
11g.108138950T>ACA382507156ACAT1c.488T>A (p.Met163Lys)
n.583T>A
c.*46T>A (n.*46T>A)
c.218T>A (p.Met73Lys)
c.125T>A (p.Met42Lys)
c.173T>A (p.Met58Lys)
n.576T>A
c.294T>A
c.387T>A (p.Asn129Lys)
n.231T>A
c.110T>A (p.Met37Lys)
c.191T>A (p.Met64Lys)
n.528T>A
n.521T>A
11g.108138950T>CCA382507157ACAT1c.488T>C (p.Met163Thr)
n.583T>C
c.*46T>C (n.*46T>C)
c.218T>C (p.Met73Thr)
c.125T>C (p.Met42Thr)
c.173T>C (p.Met58Thr)
n.576T>C
c.294T>C
c.387T>C (p.Asn129=)
n.231T>C
c.110T>C (p.Met37Thr)
c.191T>C (p.Met64Thr)
n.528T>C
n.521T>C
 gnomAD v4
11g.108138950T>GCA382507158ACAT1c.488T>G (p.Met163Arg)
n.583T>G
c.*46T>G (n.*46T>G)
c.218T>G (p.Met73Arg)
c.125T>G (p.Met42Arg)
c.173T>G (p.Met58Arg)
n.576T>G
c.294T>G
c.387T>G (p.Asn129Lys)
n.231T>G
c.110T>G (p.Met37Arg)
c.191T>G (p.Met64Arg)
n.528T>G
n.521T>G
11g.108138951G>ACA382507159ACAT1c.489G>A (p.Met163Ile)
n.584G>A
c.*47G>A (n.*47G>A)
c.219G>A (p.Met73Ile)
c.126G>A (p.Met42Ile)
c.174G>A (p.Met58Ile)
n.577G>A
c.295G>A
c.388G>A (p.Glu130Lys)
n.232G>A
c.111G>A (p.Met37Ile)
c.192G>A (p.Met64Ile)
n.529G>A
n.522G>A
 gnomAD v4
11g.108138951G>CCA382507160ACAT1c.489G>C (p.Met163Ile)
n.584G>C
c.*47G>C (n.*47G>C)
c.219G>C (p.Met73Ile)
c.126G>C (p.Met42Ile)
c.174G>C (p.Met58Ile)
n.577G>C
c.295G>C
c.388G>C (p.Glu130Gln)
n.232G>C
c.111G>C (p.Met37Ile)
c.192G>C (p.Met64Ile)
n.529G>C
n.522G>C
11g.108138951G=CA1998717037ACAT1c.489G= (p.Met163=)
n.584G=
c.*47G= (n.*47G=)
c.219G= (p.Met73=)
c.126G= (p.Met42=)
c.174G= (p.Met58=)
n.577G=
c.295G=
c.388G= (p.Glu130=)
n.232G=
c.111G= (p.Met37=)
c.192G= (p.Met64=)
n.529G=
n.522G=
11g.108138951G>TCA6263146ACAT1c.489G>T (p.Met163Ile)
n.584G>T
c.*47G>T (n.*47G>T)
c.219G>T (p.Met73Ile)
c.126G>T (p.Met42Ile)
c.174G>T (p.Met58Ile)
n.577G>T
c.295G>T
c.388G>T (p.Glu130Ter)
n.232G>T
c.111G>T (p.Met37Ile)
c.192G>T (p.Met64Ile)
n.529G>T
n.522G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.108138953_108138957delCA2573146378ACAT1c.491_495del (p.Asn164ArgfsTer11)
n.586_590del
c.*49_*53del (n.*49_*53del)
c.221_225del (p.Asn74ArgfsTer11)
c.128_132del (p.Asn43ArgfsTer11)
c.176_180del (p.Asn59ArgfsTer11)
n.579_583del
c.297_301del
c.390_394del (p.Gln131AspfsTer8)
n.234_238del
c.113_117del (p.Asn38ArgfsTer11)
c.194_198del (p.Asn65ArgfsTer11)
n.531_535del
n.524_528del
 ClinVar dbSNP gnomAD v4
11g.108138952A>CCA382507161ACAT1c.490A>C (p.Asn164His)
n.585A>C
c.*48A>C (n.*48A>C)
c.220A>C (p.Asn74His)
c.127A>C (p.Asn43His)
c.175A>C (p.Asn59His)
n.578A>C
c.296A>C
c.389A>C (p.Glu130Ala)
n.233A>C
c.112A>C (p.Asn38His)
c.193A>C (p.Asn65His)
n.530A>C
n.523A>C
11g.108138952A>GCA382507162ACAT1c.490A>G (p.Asn164Asp)
n.585A>G
c.*48A>G (n.*48A>G)
c.220A>G (p.Asn74Asp)
c.127A>G (p.Asn43Asp)
c.175A>G (p.Asn59Asp)
n.578A>G
c.296A>G
c.389A>G (p.Glu130Gly)
n.233A>G
c.112A>G (p.Asn38Asp)
c.193A>G (p.Asn65Asp)
n.530A>G
n.523A>G
11g.108138952A>TCA382507163ACAT1c.490A>T (p.Asn164Tyr)
n.585A>T
c.*48A>T (n.*48A>T)
c.220A>T (p.Asn74Tyr)
c.127A>T (p.Asn43Tyr)
c.175A>T (p.Asn59Tyr)
n.578A>T
c.296A>T
c.389A>T (p.Glu130Val)
n.233A>T
c.112A>T (p.Asn38Tyr)
c.193A>T (p.Asn65Tyr)
n.530A>T
n.523A>T
11g.108138953A=CA1998717038ACAT1c.491A= (p.Asn164=)
n.586A=
c.*49A= (n.*49A=)
c.221A= (p.Asn74=)
c.128A= (p.Asn43=)
c.176A= (p.Asn59=)
n.579A=
c.297A=
c.390A= (p.Glu130=)
n.234A=
c.113A= (p.Asn38=)
c.194A= (p.Asn65=)
n.531A=
n.524A=
11g.108138953A>CCA382507166ACAT1c.491A>C (p.Asn164Thr)
n.586A>C
c.*49A>C (n.*49A>C)
c.221A>C (p.Asn74Thr)
c.128A>C (p.Asn43Thr)
c.176A>C (p.Asn59Thr)
n.579A>C
c.297A>C
c.390A>C (p.Glu130Asp)
n.234A>C
c.113A>C (p.Asn38Thr)
c.194A>C (p.Asn65Thr)
n.531A>C
n.524A>C
11g.108138953A>GCA382507165ACAT1c.491A>G (p.Asn164Ser)
n.586A>G
c.*49A>G (n.*49A>G)
c.221A>G (p.Asn74Ser)
c.128A>G (p.Asn43Ser)
c.176A>G (p.Asn59Ser)
n.579A>G
c.297A>G
c.390A>G (p.Glu130=)
n.234A>G
c.113A>G (p.Asn38Ser)
c.194A>G (p.Asn65Ser)
n.531A>G
n.524A>G
 dbSNP
11g.108138953A>TCA382507164ACAT1c.491A>T (p.Asn164Ile)
n.586A>T
c.*49A>T (n.*49A>T)
c.221A>T (p.Asn74Ile)
c.128A>T (p.Asn43Ile)
c.176A>T (p.Asn59Ile)
n.579A>T
c.297A>T
c.390A>T (p.Glu130Asp)
n.234A>T
c.113A>T (p.Asn38Ile)
c.194A>T (p.Asn65Ile)
n.531A>T
n.524A>T
11g.108138954C>ACA382507167ACAT1c.492C>A (p.Asn164Lys)
n.587C>A
c.*50C>A (n.*50C>A)
c.222C>A (p.Asn74Lys)
c.129C>A (p.Asn43Lys)
c.177C>A (p.Asn59Lys)
n.580C>A
c.298C>A
c.391C>A (p.Gln131Lys)
n.235C>A
c.114C>A (p.Asn38Lys)
c.195C>A (p.Asn65Lys)
n.532C>A
n.525C>A
 gnomAD v4
11g.108138954C>GCA382507168ACAT1c.492C>G (p.Asn164Lys)
n.587C>G
c.*50C>G (n.*50C>G)
c.222C>G (p.Asn74Lys)
c.129C>G (p.Asn43Lys)
c.177C>G (p.Asn59Lys)
n.580C>G
c.298C>G
c.391C>G (p.Gln131Glu)
n.235C>G
c.114C>G (p.Asn38Lys)
c.195C>G (p.Asn65Lys)
n.532C>G
n.525C>G
11g.108138954C>TCA476672095ACAT1c.492C>T (p.Asn164=)
n.587C>T
c.*50C>T (n.*50C>T)
c.222C>T (p.Asn74=)
c.129C>T (p.Asn43=)
c.177C>T (p.Asn59=)
n.580C>T
c.298C>T
c.391C>T (p.Gln131Ter)
n.235C>T
c.114C>T (p.Asn38=)
c.195C>T (p.Asn65=)
n.532C>T
n.525C>T
 ClinVar dbSNP gnomAD v4
11g.108138954_108138956delinsCAGCA1998717039ACAT1c.492_494delinsCAG (p.Asn164=)
n.587_589delinsCAG
c.*50_*52delinsCAG (n.*50_*52delinsCAG)
c.222_224delinsCAG (p.Asn74=)
c.129_131delinsCAG (p.Asn43=)
c.177_179delinsCAG (p.Asn59=)
n.580_582delinsCAG
c.298_300delinsCAG
c.391_393delinsCAG (p.Gln131=)
n.235_237delinsCAG
c.114_116delinsCAG (p.Asn38=)
c.195_197delinsCAG (p.Asn65=)
n.532_534delinsCAG
n.525_527delinsCAG
11g.108138955A>CCA476672096ACAT1c.493A>C (p.Arg165=)
n.588A>C
c.*51A>C (n.*51A>C)
c.223A>C (p.Arg75=)
c.130A>C (p.Arg44=)
c.178A>C (p.Arg60=)
n.581A>C
c.299A>C
c.392A>C (p.Gln131Pro)
n.236A>C
c.115A>C (p.Arg39=)
c.196A>C (p.Arg66=)
n.533A>C
n.526A>C
11g.108138955A>GCA382507169ACAT1c.493A>G (p.Arg165Gly)
n.588A>G
c.*51A>G (n.*51A>G)
c.223A>G (p.Arg75Gly)
c.130A>G (p.Arg44Gly)
c.178A>G (p.Arg60Gly)
n.581A>G
c.299A>G
c.392A>G (p.Gln131Arg)
n.236A>G
c.115A>G (p.Arg39Gly)
c.196A>G (p.Arg66Gly)
n.533A>G
n.526A>G
11g.108138955A>TCA382507170ACAT1c.493A>T (p.Arg165Ter)
n.588A>T
c.*51A>T (n.*51A>T)
c.223A>T (p.Arg75Ter)
c.130A>T (p.Arg44Ter)
c.178A>T (p.Arg60Ter)
n.581A>T
c.299A>T
c.392A>T (p.Gln131Leu)
n.236A>T
c.115A>T (p.Arg39Ter)
c.196A>T (p.Arg66Ter)
n.533A>T
n.526A>T
11g.108138957_108138958delCA601691817ACAT1c.495_496del (p.Gly166IlefsTer10)
n.590_591del
c.*53_*54del (n.*53_*54del)
c.225_226del (p.Gly76IlefsTer10)
c.132_133del (p.Gly45IlefsTer10)
c.180_181del (p.Gly61IlefsTer10)
n.583_584del
c.301_302del
c.394_395del (p.Arg132AspfsTer8)
n.238_239del
c.117_118del (p.Gly40IlefsTer10)
c.198_199del (p.Gly67IlefsTer10)
n.535_536del
n.528_529del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.108138956G>ACA382507171ACAT1c.494G>A (p.Arg165Lys)
n.589G>A
c.*52G>A (n.*52G>A)
c.224G>A (p.Arg75Lys)
c.131G>A (p.Arg44Lys)
c.179G>A (p.Arg60Lys)
n.582G>A
c.300G>A
c.393G>A (p.Gln131=)
n.237G>A
c.116G>A (p.Arg39Lys)
c.197G>A (p.Arg66Lys)
n.534G>A
n.527G>A
11g.108138956G>CCA382507172ACAT1c.494G>C (p.Arg165Thr)
n.589G>C
c.*52G>C (n.*52G>C)
c.224G>C (p.Arg75Thr)
c.131G>C (p.Arg44Thr)
c.179G>C (p.Arg60Thr)
n.582G>C
c.300G>C
c.393G>C (p.Gln131His)
n.237G>C
c.116G>C (p.Arg39Thr)
c.197G>C (p.Arg66Thr)
n.534G>C
n.527G>C
11g.108138956G>TCA382507173ACAT1c.494G>T (p.Arg165Ile)
n.589G>T
c.*52G>T (n.*52G>T)
c.224G>T (p.Arg75Ile)
c.131G>T (p.Arg44Ile)
c.179G>T (p.Arg60Ile)
n.582G>T
c.300G>T
c.393G>T (p.Gln131His)
n.237G>T
c.116G>T (p.Arg39Ile)
c.197G>T (p.Arg66Ile)
n.534G>T
n.527G>T
11g.108138957A>CCA382507175ACAT1c.495A>C (p.Arg165Ser)
n.590A>C
c.*53A>C (n.*53A>C)
c.225A>C (p.Arg75Ser)
c.132A>C (p.Arg44Ser)
c.180A>C (p.Arg60Ser)
n.583A>C
c.301A>C
c.394A>C (p.Arg132=)
n.238A>C
c.117A>C (p.Arg39Ser)
c.198A>C (p.Arg66Ser)
n.535A>C
n.528A>C
11g.108138957A>GCA476672097ACAT1c.495A>G (p.Arg165=)
n.590A>G
c.*53A>G (n.*53A>G)
c.225A>G (p.Arg75=)
c.132A>G (p.Arg44=)
c.180A>G (p.Arg60=)
n.583A>G
c.301A>G
c.394A>G (p.Arg132Gly)
n.238A>G
c.117A>G (p.Arg39=)
c.198A>G (p.Arg66=)
n.535A>G
n.528A>G
11g.108138957A>TCA382507174ACAT1c.495A>T (p.Arg165Ser)
n.590A>T
c.*53A>T (n.*53A>T)
c.225A>T (p.Arg75Ser)
c.132A>T (p.Arg44Ser)
c.180A>T (p.Arg60Ser)
n.583A>T
c.301A>T
c.394A>T (p.Arg132Trp)
n.238A>T
c.117A>T (p.Arg39Ser)
c.198A>T (p.Arg66Ser)
n.535A>T
n.528A>T
11g.108138958G>ACA382507176ACAT1c.496G>A (p.Gly166Arg)
n.591G>A
c.*54G>A (n.*54G>A)
c.226G>A (p.Gly76Arg)
c.133G>A (p.Gly45Arg)
c.181G>A (p.Gly61Arg)
n.584G>A
c.302G>A
c.395G>A (p.Arg132Lys)
n.239G>A
c.118G>A (p.Gly40Arg)
c.199G>A (p.Gly67Arg)
n.536G>A
n.529G>A
11g.108138958G>CCA382507177ACAT1c.496G>C (p.Gly166Arg)
n.591G>C
c.*54G>C (n.*54G>C)
c.226G>C (p.Gly76Arg)
c.133G>C (p.Gly45Arg)
c.181G>C (p.Gly61Arg)
n.584G>C
c.302G>C
c.395G>C (p.Arg132Thr)
n.239G>C
c.118G>C (p.Gly40Arg)
c.199G>C (p.Gly67Arg)
n.536G>C
n.529G>C
11g.108138958G>TCA382507178ACAT1c.496G>T (p.Gly166Ter)
n.591G>T
c.*54G>T (n.*54G>T)
c.226G>T (p.Gly76Ter)
c.133G>T (p.Gly45Ter)
c.181G>T (p.Gly61Ter)
n.584G>T
c.302G>T
c.395G>T (p.Arg132Met)
n.239G>T
c.118G>T (p.Gly40Ter)
c.199G>T (p.Gly67Ter)
n.536G>T
n.529G>T
11g.108138959G>ACA382507179ACAT1c.497G>A (p.Gly166Glu)
n.592G>A
c.*55G>A (n.*55G>A)
c.227G>A (p.Gly76Glu)
c.134G>A (p.Gly45Glu)
c.182G>A (p.Gly61Glu)
n.585G>A
c.303G>A
c.396G>A (p.Arg132=)
n.240G>A
c.119G>A (p.Gly40Glu)
c.200G>A (p.Gly67Glu)
n.537G>A
n.530G>A
11g.108138959G>CCA382507180ACAT1c.497G>C (p.Gly166Ala)
n.592G>C
c.*55G>C (n.*55G>C)
c.227G>C (p.Gly76Ala)
c.134G>C (p.Gly45Ala)
c.182G>C (p.Gly61Ala)
n.585G>C
c.303G>C
c.396G>C (p.Arg132Ser)
n.240G>C
c.119G>C (p.Gly40Ala)
c.200G>C (p.Gly67Ala)
n.537G>C
n.530G>C
11g.108138959G>TCA382507181ACAT1c.497G>T (p.Gly166Val)
n.592G>T
c.*55G>T (n.*55G>T)
c.227G>T (p.Gly76Val)
c.134G>T (p.Gly45Val)
c.182G>T (p.Gly61Val)
n.585G>T
c.303G>T
c.396G>T (p.Arg132Ser)
n.240G>T
c.119G>T (p.Gly40Val)
c.200G>T (p.Gly67Val)
n.537G>T
n.530G>T
11g.108138960A>CCA476672101ACAT1c.498A>C (p.Gly166=)
n.593A>C
c.*56A>C (n.*56A>C)
c.228A>C (p.Gly76=)
c.135A>C (p.Gly45=)
c.183A>C (p.Gly61=)
n.586A>C
c.304A>C
c.397A>C (p.Ile133Leu)
n.241A>C
c.120A>C (p.Gly40=)
c.201A>C (p.Gly67=)
n.538A>C
n.531A>C
11g.108138960A>GCA476672103ACAT1c.498A>G (p.Gly166=)
n.593A>G
c.*56A>G (n.*56A>G)
c.228A>G (p.Gly76=)
c.135A>G (p.Gly45=)
c.183A>G (p.Gly61=)
n.586A>G
c.304A>G
c.397A>G (p.Ile133Val)
n.241A>G
c.120A>G (p.Gly40=)
c.201A>G (p.Gly67=)
n.538A>G
n.531A>G
 gnomAD v4
11g.108138960A>TCA476672102ACAT1c.498A>T (p.Gly166=)
n.593A>T
c.*56A>T (n.*56A>T)
c.228A>T (p.Gly76=)
c.135A>T (p.Gly45=)
c.183A>T (p.Gly61=)
n.586A>T
c.304A>T
c.397A>T (p.Ile133Phe)
n.241A>T
c.120A>T (p.Gly40=)
c.201A>T (p.Gly67=)
n.538A>T
n.531A>T
11g.108138961T>ACA382507182ACAT1c.499T>A (p.Ser167Thr)
n.594T>A
c.*57T>A (n.*57T>A)
c.229T>A (p.Ser77Thr)
c.136T>A (p.Ser46Thr)
c.184T>A (p.Ser62Thr)
n.587T>A
c.305T>A
c.398T>A (p.Ile133Asn)
n.242T>A
c.121T>A (p.Ser41Thr)
c.202T>A (p.Ser68Thr)
n.539T>A
n.532T>A
11g.108138961T>CCA382507184ACAT1c.499T>C (p.Ser167Pro)
n.594T>C
c.*57T>C (n.*57T>C)
c.229T>C (p.Ser77Pro)
c.136T>C (p.Ser46Pro)
c.184T>C (p.Ser62Pro)
n.587T>C
c.305T>C
c.398T>C (p.Ile133Thr)
n.242T>C
c.121T>C (p.Ser41Pro)
c.202T>C (p.Ser68Pro)
n.539T>C
n.532T>C
 dbSNP
11g.108138961T>GCA382507183ACAT1c.499T>G (p.Ser167Ala)
n.594T>G
c.*57T>G (n.*57T>G)
c.229T>G (p.Ser77Ala)
c.136T>G (p.Ser46Ala)
c.184T>G (p.Ser62Ala)
n.587T>G
c.305T>G
c.398T>G (p.Ile133Ser)
n.242T>G
c.121T>G (p.Ser41Ala)
c.202T>G (p.Ser68Ala)
n.539T>G
n.532T>G
 dbSNP
11g.108138961T=CA1998717040ACAT1c.499T= (p.Ser167=)
n.594T=
c.*57T= (n.*57T=)
c.229T= (p.Ser77=)
c.136T= (p.Ser46=)
c.184T= (p.Ser62=)
n.587T=
c.305T=
c.398T= (p.Ile133=)
n.242T=
c.121T= (p.Ser41=)
c.202T= (p.Ser68=)
n.539T=
n.532T=
11g.108138962C>ACA382507185ACAT1c.500C>A (p.Ser167Ter)
n.595C>A
c.*58C>A (n.*58C>A)
c.230C>A (p.Ser77Ter)
c.137C>A (p.Ser46Ter)
c.185C>A (p.Ser62Ter)
n.588C>A
c.306C>A
c.399C>A (p.Ile133=)
n.243C>A
c.122C>A (p.Ser41Ter)
c.203C>A (p.Ser68Ter)
n.540C>A
n.533C>A
11g.108138962C>GCA382507186ACAT1c.500C>G (p.Ser167Ter)
n.595C>G
c.*58C>G (n.*58C>G)
c.230C>G (p.Ser77Ter)
c.137C>G (p.Ser46Ter)
c.185C>G (p.Ser62Ter)
n.588C>G
c.306C>G
c.399C>G (p.Ile133Met)
n.243C>G
c.122C>G (p.Ser41Ter)
c.203C>G (p.Ser68Ter)
n.540C>G
n.533C>G
11g.108138962C>TCA382507187ACAT1c.500C>T (p.Ser167Leu)
n.595C>T
c.*58C>T (n.*58C>T)
c.230C>T (p.Ser77Leu)
c.137C>T (p.Ser46Leu)
c.185C>T (p.Ser62Leu)
n.588C>T
c.306C>T
c.399C>T (p.Ile133=)
n.243C>T
c.122C>T (p.Ser41Leu)
c.203C>T (p.Ser68Leu)
n.540C>T
n.533C>T
 dbSNP gnomAD v4
11g.108138963A>CCA476672105ACAT1c.501A>C (p.Ser167=)
n.596A>C
c.*59A>C (n.*59A>C)
c.231A>C (p.Ser77=)
c.138A>C (p.Ser46=)
c.186A>C (p.Ser62=)
n.589A>C
c.307A>C
c.400A>C (p.Asn134His)
n.244A>C
c.123A>C (p.Ser41=)
c.204A>C (p.Ser68=)
n.541A>C
n.534A>C
11g.108138963A>GCA476672107ACAT1c.501A>G (p.Ser167=)
n.596A>G
c.*59A>G (n.*59A>G)
c.231A>G (p.Ser77=)
c.138A>G (p.Ser46=)
c.186A>G (p.Ser62=)
n.589A>G
c.307A>G
c.400A>G (p.Asn134Asp)
n.244A>G
c.123A>G (p.Ser41=)
c.204A>G (p.Ser68=)
n.541A>G
n.534A>G
11g.108138963A>TCA476672108ACAT1c.501A>T (p.Ser167=)
n.596A>T
c.*59A>T (n.*59A>T)
c.231A>T (p.Ser77=)
c.138A>T (p.Ser46=)
c.186A>T (p.Ser62=)
n.589A>T
c.307A>T
c.400A>T (p.Asn134Tyr)
n.244A>T
c.123A>T (p.Ser41=)
c.204A>T (p.Ser68=)
n.541A>T
n.534A>T
 gnomAD v3 gnomAD v4
11g.108138964A=CA1998717041ACAT1c.502A= (p.Thr168=)
n.597A=
c.*60A= (n.*60A=)
c.232A= (p.Thr78=)
c.139A= (p.Thr47=)
c.187A= (p.Thr63=)
n.590A=
c.308A=
c.401A= (p.Asn134=)
n.245A=
c.124A= (p.Thr42=)
c.205A= (p.Thr69=)
n.542A=
n.535A=
11g.108138964A>CCA382507188ACAT1c.502A>C (p.Thr168Pro)
n.597A>C
c.*60A>C (n.*60A>C)
c.232A>C (p.Thr78Pro)
c.139A>C (p.Thr47Pro)
c.187A>C (p.Thr63Pro)
n.590A>C
c.308A>C
c.401A>C (p.Asn134Thr)
n.245A>C
c.124A>C (p.Thr42Pro)
c.205A>C (p.Thr69Pro)
n.542A>C
n.535A>C
11g.108138964A>GCA6263147ACAT1c.502A>G (p.Thr168Ala)
n.597A>G
c.*60A>G (n.*60A>G)
c.232A>G (p.Thr78Ala)
c.139A>G (p.Thr47Ala)
c.187A>G (p.Thr63Ala)
n.590A>G
c.308A>G
c.401A>G (p.Asn134Ser)
n.245A>G
c.124A>G (p.Thr42Ala)
c.205A>G (p.Thr69Ala)
n.542A>G
n.535A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.108138964A>TCA382507189ACAT1c.502A>T (p.Thr168Ser)
n.597A>T
c.*60A>T (n.*60A>T)
c.232A>T (p.Thr78Ser)
c.139A>T (p.Thr47Ser)
c.187A>T (p.Thr63Ser)
n.590A>T
c.308A>T
c.401A>T (p.Asn134Ile)
n.245A>T
c.124A>T (p.Thr42Ser)
c.205A>T (p.Thr69Ser)
n.542A>T
n.535A>T
11g.108138965C>ACA382507190ACAT1c.503C>A (p.Thr168Lys)
n.598C>A
c.*61C>A (n.*61C>A)
c.233C>A (p.Thr78Lys)
c.140C>A (p.Thr47Lys)
c.188C>A (p.Thr63Lys)
n.591C>A
c.309C>A
c.402C>A (p.Asn134Lys)
n.246C>A
c.125C>A (p.Thr42Lys)
c.206C>A (p.Thr69Lys)
n.543C>A
n.536C>A
11g.108138965C=CA1998717042ACAT1c.503C= (p.Thr168=)
n.598C=
c.*61C= (n.*61C=)
c.233C= (p.Thr78=)
c.140C= (p.Thr47=)
c.188C= (p.Thr63=)
n.591C=
c.309C=
c.402C= (p.Asn134=)
n.246C=
c.125C= (p.Thr42=)
c.206C= (p.Thr69=)
n.543C=
n.536C=
11g.108138965C>GCA382507191ACAT1c.503C>G (p.Thr168Arg)
n.598C>G
c.*61C>G (n.*61C>G)
c.233C>G (p.Thr78Arg)
c.140C>G (p.Thr47Arg)
c.188C>G (p.Thr63Arg)
n.591C>G
c.309C>G
c.402C>G (p.Asn134Lys)
n.246C>G
c.125C>G (p.Thr42Arg)
c.206C>G (p.Thr69Arg)
n.543C>G
n.536C>G
11g.108138965C>TCA382507192ACAT1c.503C>T (p.Thr168Ile)
n.598C>T
c.*61C>T (n.*61C>T)
c.233C>T (p.Thr78Ile)
c.140C>T (p.Thr47Ile)
c.188C>T (p.Thr63Ile)
n.591C>T
c.309C>T
c.402C>T (p.Asn134=)
n.246C>T
c.125C>T (p.Thr42Ile)
c.206C>T (p.Thr69Ile)
n.543C>T
n.536C>T
 dbSNP gnomAD v4
11g.108138966A>CCA476672109ACAT1c.504A>C (p.Thr168=)
n.599A>C
c.*62A>C (n.*62A>C)
c.234A>C (p.Thr78=)
c.141A>C (p.Thr47=)
c.189A>C (p.Thr63=)
n.592A>C
c.310A>C
c.403A>C (p.Thr135Pro)
n.247A>C
c.126A>C (p.Thr42=)
c.207A>C (p.Thr69=)
n.544A>C
n.537A>C
11g.108138966A>GCA476672110ACAT1c.504A>G (p.Thr168=)
n.599A>G
c.*62A>G (n.*62A>G)
c.234A>G (p.Thr78=)
c.141A>G (p.Thr47=)
c.189A>G (p.Thr63=)
n.592A>G
c.310A>G
c.403A>G (p.Thr135Ala)
n.247A>G
c.126A>G (p.Thr42=)
c.207A>G (p.Thr69=)
n.544A>G
n.537A>G
11g.108138966A>TCA476672112ACAT1c.504A>T (p.Thr168=)
n.599A>T
c.*62A>T (n.*62A>T)
c.234A>T (p.Thr78=)
c.141A>T (p.Thr47=)
c.189A>T (p.Thr63=)
n.592A>T
c.310A>T
c.403A>T (p.Thr135Ser)
n.247A>T
c.126A>T (p.Thr42=)
c.207A>T (p.Thr69=)
n.544A>T
n.537A>T
11g.108138967C>ACA382507193ACAT1c.505C>A (p.Pro169Thr)
n.600C>A
c.*63C>A (n.*63C>A)
c.235C>A (p.Pro79Thr)
c.142C>A (p.Pro48Thr)
c.190C>A (p.Pro64Thr)
n.593C>A
c.311C>A
c.404C>A (p.Thr135Asn)
n.248C>A
c.127C>A (p.Pro43Thr)
c.208C>A (p.Pro70Thr)
n.545C>A
n.538C>A
 gnomAD v4
11g.108138967C=CA1998717043ACAT1c.505C= (p.Pro169=)
n.600C=
c.*63C= (n.*63C=)
c.235C= (p.Pro79=)
c.142C= (p.Pro48=)
c.190C= (p.Pro64=)
n.593C=
c.311C=
c.404C= (p.Thr135=)
n.248C=
c.127C= (p.Pro43=)
c.208C= (p.Pro70=)
n.545C=
n.538C=
11g.108138967C>GCA382507194ACAT1c.505C>G (p.Pro169Ala)
n.600C>G
c.*63C>G (n.*63C>G)
c.235C>G (p.Pro79Ala)
c.142C>G (p.Pro48Ala)
c.190C>G (p.Pro64Ala)
n.593C>G
c.311C>G
c.404C>G (p.Thr135Ser)
n.248C>G
c.127C>G (p.Pro43Ala)
c.208C>G (p.Pro70Ala)
n.545C>G
n.538C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.108138967C>TCA382507195ACAT1c.505C>T (p.Pro169Ser)
n.600C>T
c.*63C>T (n.*63C>T)
c.235C>T (p.Pro79Ser)
c.142C>T (p.Pro48Ser)
c.190C>T (p.Pro64Ser)
n.593C>T
c.311C>T
c.404C>T (p.Thr135Ile)
n.248C>T
c.127C>T (p.Pro43Ser)
c.208C>T (p.Pro70Ser)
n.545C>T
n.538C>T
11g.108138968C>ACA382507196ACAT1c.506C>A (p.Pro169Gln)
n.601C>A
c.*64C>A (n.*64C>A)
c.236C>A (p.Pro79Gln)
c.143C>A (p.Pro48Gln)
c.191C>A (p.Pro64Gln)
n.594C>A
c.312C>A
c.405C>A (p.Thr135=)
n.1C>A
n.249C>A
c.128C>A (p.Pro43Gln)
c.209C>A (p.Pro70Gln)
n.546C>A
n.539C>A
 dbSNP gnomAD v2 gnomAD v4
11g.108138968C=CA1998717044ACAT1c.506C= (p.Pro169=)
n.601C=
c.*64C= (n.*64C=)
c.236C= (p.Pro79=)
c.143C= (p.Pro48=)
c.191C= (p.Pro64=)
n.594C=
c.312C=
c.405C= (p.Thr135=)
n.1C=
n.249C=
c.128C= (p.Pro43=)
c.209C= (p.Pro70=)
n.546C=
n.539C=
11g.108138968C>GCA382507197ACAT1c.506C>G (p.Pro169Arg)
n.601C>G
c.*64C>G (n.*64C>G)
c.236C>G (p.Pro79Arg)
c.143C>G (p.Pro48Arg)
c.191C>G (p.Pro64Arg)
n.594C>G
c.312C>G
c.405C>G (p.Thr135=)
n.1C>G
n.249C>G
c.128C>G (p.Pro43Arg)
c.209C>G (p.Pro70Arg)
n.546C>G
n.539C>G
11g.108138968C>TCA228403388ACAT1c.506C>T (p.Pro169Leu)
n.601C>T
c.*64C>T (n.*64C>T)
c.236C>T (p.Pro79Leu)
c.143C>T (p.Pro48Leu)
c.191C>T (p.Pro64Leu)
n.594C>T
c.312C>T
c.405C>T (p.Thr135=)
n.1C>T
n.249C>T
c.128C>T (p.Pro43Leu)
c.209C>T (p.Pro70Leu)
n.546C>T
n.539C>T
 dbSNP gnomAD v4
11g.108138969A=CA1998717045ACAT1c.507A= (p.Pro169=)
n.602A=
c.*65A= (n.*65A=)
c.237A= (p.Pro79=)
c.144A= (p.Pro48=)
c.192A= (p.Pro64=)
n.595A=
c.313A=
c.406A= (p.Ile136=)
n.2A=
n.250A=
c.129A= (p.Pro43=)
c.210A= (p.Pro70=)
n.547A=
n.540A=
11g.108138969A>CCA476672113ACAT1c.507A>C (p.Pro169=)
n.602A>C
c.*65A>C (n.*65A>C)
c.237A>C (p.Pro79=)
c.144A>C (p.Pro48=)
c.192A>C (p.Pro64=)
n.595A>C
c.313A>C
c.406A>C (p.Ile136Leu)
n.2A>C
n.250A>C
c.129A>C (p.Pro43=)
c.210A>C (p.Pro70=)
n.547A>C
n.540A>C
11g.108138969A>GCA476672114ACAT1c.507A>G (p.Pro169=)
n.602A>G
c.*65A>G (n.*65A>G)
c.237A>G (p.Pro79=)
c.144A>G (p.Pro48=)
c.192A>G (p.Pro64=)
n.595A>G
c.313A>G
c.406A>G (p.Ile136Val)
n.2A>G
n.250A>G
c.129A>G (p.Pro43=)
c.210A>G (p.Pro70=)
n.547A>G
n.540A>G
11g.108138969A>TCA228403390ACAT1c.507A>T (p.Pro169=)
n.602A>T
c.*65A>T (n.*65A>T)
c.237A>T (p.Pro79=)
c.144A>T (p.Pro48=)
c.192A>T (p.Pro64=)
n.595A>T
c.313A>T
c.406A>T (p.Ile136Leu)
n.2A>T
n.250A>T
c.129A>T (p.Pro43=)
c.210A>T (p.Pro70=)
n.547A>T
n.540A>T
 ClinVar dbSNP gnomAD v4
11g.108138970T>ACA382507198ACAT1c.508T>A (p.Tyr170Asn)
n.603T>A
c.*66T>A (n.*66T>A)
c.238T>A (p.Tyr80Asn)
c.145T>A (p.Tyr49Asn)
c.193T>A (p.Tyr65Asn)
n.596T>A
c.314T>A
c.407T>A (p.Ile136Lys)
n.3T>A
n.251T>A
c.130T>A (p.Tyr44Asn)
c.211T>A (p.Tyr71Asn)
n.548T>A
n.541T>A
 gnomAD v4
11g.108138970T>CCA382507199ACAT1c.508T>C (p.Tyr170His)
n.603T>C
c.*66T>C (n.*66T>C)
c.238T>C (p.Tyr80His)
c.145T>C (p.Tyr49His)
c.193T>C (p.Tyr65His)
n.596T>C
c.314T>C
c.407T>C (p.Ile136Thr)
n.3T>C
n.251T>C
c.130T>C (p.Tyr44His)
c.211T>C (p.Tyr71His)
n.548T>C
n.541T>C
11g.108138970T>GCA382507200ACAT1c.508T>G (p.Tyr170Asp)
n.603T>G
c.*66T>G (n.*66T>G)
c.238T>G (p.Tyr80Asp)
c.145T>G (p.Tyr49Asp)
c.193T>G (p.Tyr65Asp)
n.596T>G
c.314T>G
c.407T>G (p.Ile136Arg)
n.3T>G
n.251T>G
c.130T>G (p.Tyr44Asp)
c.211T>G (p.Tyr71Asp)
n.548T>G
n.541T>G
11g.108138971A>CCA382507201ACAT1c.509A>C (p.Tyr170Ser)
n.604A>C
c.*67A>C (n.*67A>C)
c.239A>C (p.Tyr80Ser)
c.146A>C (p.Tyr49Ser)
c.194A>C (p.Tyr65Ser)
n.597A>C
c.315A>C
c.408A>C (p.Ile136=)
n.4A>C
n.252A>C
c.131A>C (p.Tyr44Ser)
c.212A>C (p.Tyr71Ser)
n.549A>C
n.542A>C
11g.108138971A>GCA382507202ACAT1c.509A>G (p.Tyr170Cys)
n.604A>G
c.*67A>G (n.*67A>G)
c.239A>G (p.Tyr80Cys)
c.146A>G (p.Tyr49Cys)
c.194A>G (p.Tyr65Cys)
n.597A>G
c.315A>G
c.408A>G (p.Ile136Met)
n.4A>G
n.252A>G
c.131A>G (p.Tyr44Cys)
c.212A>G (p.Tyr71Cys)
n.549A>G
n.542A>G
11g.108138971A>TCA382507203ACAT1c.509A>T (p.Tyr170Phe)
n.604A>T
c.*67A>T (n.*67A>T)
c.239A>T (p.Tyr80Phe)
c.146A>T (p.Tyr49Phe)
c.194A>T (p.Tyr65Phe)
n.597A>T
c.315A>T
c.408A>T (p.Ile136=)
n.4A>T
n.252A>T
c.131A>T (p.Tyr44Phe)
c.212A>T (p.Tyr71Phe)
n.549A>T
n.542A>T
11g.108138972T>ACA382507204ACAT1c.510T>A (p.Tyr170Ter)
n.605T>A
c.*68T>A (n.*68T>A)
c.240T>A (p.Tyr80Ter)
c.147T>A (p.Tyr49Ter)
c.195T>A (p.Tyr65Ter)
n.598T>A
c.316T>A
c.409T>A (p.Trp137Arg)
n.5T>A
n.253T>A
c.132T>A (p.Tyr44Ter)
c.213T>A (p.Tyr71Ter)
n.550T>A
n.543T>A
11g.108138972T>CCA476672116ACAT1c.510T>C (p.Tyr170=)
n.605T>C
c.*68T>C (n.*68T>C)
c.240T>C (p.Tyr80=)
c.147T>C (p.Tyr49=)
c.195T>C (p.Tyr65=)
n.598T>C
c.316T>C
c.409T>C (p.Trp137Arg)
n.5T>C
n.253T>C
c.132T>C (p.Tyr44=)
c.213T>C (p.Tyr71=)
n.550T>C
n.543T>C
 ClinVar gnomAD v3 gnomAD v4
11g.108138972T>GCA382507205ACAT1c.510T>G (p.Tyr170Ter)
n.605T>G
c.*68T>G (n.*68T>G)
c.240T>G (p.Tyr80Ter)
c.147T>G (p.Tyr49Ter)
c.195T>G (p.Tyr65Ter)
n.598T>G
c.316T>G
c.409T>G (p.Trp137Gly)
n.5T>G
n.253T>G
c.132T>G (p.Tyr44Ter)
c.213T>G (p.Tyr71Ter)
n.550T>G
n.543T>G
11g.108138973G>ACA382507206ACAT1c.511G>A (p.Gly171Ser)
n.606G>A
c.*69G>A (n.*69G>A)
c.241G>A (p.Gly81Ser)
c.148G>A (p.Gly50Ser)
c.196G>A (p.Gly66Ser)
n.599G>A
c.317G>A
c.410G>A (p.Trp137Ter)
n.6G>A
n.254G>A
c.133G>A (p.Gly45Ser)
c.214G>A (p.Gly72Ser)
n.551G>A
n.544G>A
11g.108138973G>CCA382507207ACAT1c.511G>C (p.Gly171Arg)
n.606G>C
c.*69G>C (n.*69G>C)
c.241G>C (p.Gly81Arg)
c.148G>C (p.Gly50Arg)
c.196G>C (p.Gly66Arg)
n.599G>C
c.317G>C
c.410G>C (p.Trp137Ser)
n.6G>C
n.254G>C
c.133G>C (p.Gly45Arg)
c.214G>C (p.Gly72Arg)
n.551G>C
n.544G>C
11g.108138973G>TCA382507208ACAT1c.511G>T (p.Gly171Cys)
n.606G>T
c.*69G>T (n.*69G>T)
c.241G>T (p.Gly81Cys)
c.148G>T (p.Gly50Cys)
c.196G>T (p.Gly66Cys)
n.599G>T
c.317G>T
c.410G>T (p.Trp137Leu)
n.6G>T
n.254G>T
c.133G>T (p.Gly45Cys)
c.214G>T (p.Gly72Cys)
n.551G>T
n.544G>T
 COSMIC
11g.108138974G>ACA382507211ACAT1c.512G>A (p.Gly171Asp)
n.607G>A
c.*70G>A (n.*70G>A)
c.242G>A (p.Gly81Asp)
c.149G>A (p.Gly50Asp)
c.197G>A (p.Gly66Asp)
n.600G>A
c.318G>A
c.411G>A (p.Trp137Ter)
n.7G>A
n.255G>A
c.134G>A (p.Gly45Asp)
c.215G>A (p.Gly72Asp)
n.552G>A
n.545G>A
 gnomAD v4
11g.108138974G>CCA382507209ACAT1c.512G>C (p.Gly171Ala)
n.607G>C
c.*70G>C (n.*70G>C)
c.242G>C (p.Gly81Ala)
c.149G>C (p.Gly50Ala)
c.197G>C (p.Gly66Ala)
n.600G>C
c.318G>C
c.411G>C (p.Trp137Cys)
n.7G>C
n.255G>C
c.134G>C (p.Gly45Ala)
c.215G>C (p.Gly72Ala)
n.552G>C
n.545G>C
11g.108138974G>TCA382507210ACAT1c.512G>T (p.Gly171Val)
n.607G>T
c.*70G>T (n.*70G>T)
c.242G>T (p.Gly81Val)
c.149G>T (p.Gly50Val)
c.197G>T (p.Gly66Val)
n.600G>T
c.318G>T
c.411G>T (p.Trp137Cys)
n.7G>T
n.255G>T
c.134G>T (p.Gly45Val)
c.215G>T (p.Gly72Val)
n.552G>T
n.545G>T
11g.108138975delCA2574969913ACAT1c.513del (p.Val173Ter)
n.608del
c.*71del (n.*71del)
c.243del (p.Val83Ter)
c.150del (p.Val52Ter)
c.198del (p.Val68Ter)
n.601del
c.319del
c.412del (p.Trp138GlyfsTer?)
n.8del
n.256del
c.135del (p.Val47Ter)
c.216del (p.Val74Ter)
n.553del
n.546del
11g.108138975T>ACA476672117ACAT1c.513T>A (p.Gly171=)
n.608T>A
c.*71T>A (n.*71T>A)
c.243T>A (p.Gly81=)
c.150T>A (p.Gly50=)
c.198T>A (p.Gly66=)
n.601T>A
c.319T>A
c.412T>A (p.Trp138Arg)
n.8T>A
n.256T>A
c.135T>A (p.Gly45=)
c.216T>A (p.Gly72=)
n.553T>A
n.546T>A
11g.108138975T>CCA476672119ACAT1c.513T>C (p.Gly171=)
n.608T>C
c.*71T>C (n.*71T>C)
c.243T>C (p.Gly81=)
c.150T>C (p.Gly50=)
c.198T>C (p.Gly66=)
n.601T>C
c.319T>C
c.412T>C (p.Trp138Arg)
n.8T>C
n.256T>C
c.135T>C (p.Gly45=)
c.216T>C (p.Gly72=)
n.553T>C
n.546T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.108138975T>GCA476672118ACAT1c.513T>G (p.Gly171=)
n.608T>G
c.*71T>G (n.*71T>G)
c.243T>G (p.Gly81=)
c.150T>G (p.Gly50=)
c.198T>G (p.Gly66=)
n.601T>G
c.319T>G
c.412T>G (p.Trp138Gly)
n.8T>G
n.256T>G
c.135T>G (p.Gly45=)
c.216T>G (p.Gly72=)
n.553T>G
n.546T>G
11g.108138975T=CA1998717046ACAT1c.513T= (p.Gly171=)
n.608T=
c.*71T= (n.*71T=)
c.243T= (p.Gly81=)
c.150T= (p.Gly50=)
c.198T= (p.Gly66=)
n.601T=
c.319T=
c.412T= (p.Trp138=)
n.8T=
n.256T=
c.135T= (p.Gly45=)
c.216T= (p.Gly72=)
n.553T=
n.546T=
11g.108138976G>ACA382507212ACAT1c.514G>A (p.Gly172Arg)
n.609G>A
c.*72G>A (n.*72G>A)
c.244G>A (p.Gly82Arg)
c.151G>A (p.Gly51Arg)
c.199G>A (p.Gly67Arg)
n.602G>A
c.320G>A
c.413G>A (p.Trp138Ter)
n.9G>A
n.257G>A
c.136G>A (p.Gly46Arg)
c.217G>A (p.Gly73Arg)
n.554G>A
n.547G>A
11g.108138976G>CCA382507213ACAT1c.514G>C (p.Gly172Arg)
n.609G>C
c.*72G>C (n.*72G>C)
c.244G>C (p.Gly82Arg)
c.151G>C (p.Gly51Arg)
c.199G>C (p.Gly67Arg)
n.602G>C
c.320G>C
c.413G>C (p.Trp138Ser)
n.9G>C
n.257G>C
c.136G>C (p.Gly46Arg)
c.217G>C (p.Gly73Arg)
n.554G>C
n.547G>C
11g.108138976G>TCA382507214ACAT1c.514G>T (p.Gly172Trp)
n.609G>T
c.*72G>T (n.*72G>T)
c.244G>T (p.Gly82Trp)
c.151G>T (p.Gly51Trp)
c.199G>T (p.Gly67Trp)
n.602G>T
c.320G>T
c.413G>T (p.Trp138Leu)
n.9G>T
n.257G>T
c.136G>T (p.Gly46Trp)
c.217G>T (p.Gly73Trp)
n.554G>T
n.547G>T
11g.108138977G>ACA382507215ACAT1c.515G>A (p.Gly172Glu)
n.610G>A
c.*73G>A (n.*73G>A)
c.245G>A (p.Gly82Glu)
c.152G>A (p.Gly51Glu)
c.200G>A (p.Gly67Glu)
n.603G>A
c.321G>A
c.414G>A (p.Trp138Ter)
n.10G>A
n.258G>A
c.137G>A (p.Gly46Glu)
c.218G>A (p.Gly73Glu)
n.555G>A
n.548G>A
 gnomAD v4
11g.108138977G>CCA382507216ACAT1c.515G>C (p.Gly172Ala)
n.610G>C
c.*73G>C (n.*73G>C)
c.245G>C (p.Gly82Ala)
c.152G>C (p.Gly51Ala)
c.200G>C (p.Gly67Ala)
n.603G>C
c.321G>C
c.414G>C (p.Trp138Cys)
n.10G>C
n.258G>C
c.137G>C (p.Gly46Ala)
c.218G>C (p.Gly73Ala)
n.555G>C
n.548G>C
 gnomAD v4
11g.108138977G>TCA382507217ACAT1c.515G>T (p.Gly172Val)
n.610G>T
c.*73G>T (n.*73G>T)
c.245G>T (p.Gly82Val)
c.152G>T (p.Gly51Val)
c.200G>T (p.Gly67Val)
n.603G>T
c.321G>T
c.414G>T (p.Trp138Cys)
n.10G>T
n.258G>T
c.137G>T (p.Gly46Val)
c.218G>T (p.Gly73Val)
n.555G>T
n.548G>T
11g.108138978G>ACA476672121ACAT1c.516G>A (p.Gly172=)
n.611G>A
c.*74G>A (n.*74G>A)
c.246G>A (p.Gly82=)
c.153G>A (p.Gly51=)
c.201G>A (p.Gly67=)
n.604G>A
c.322G>A
c.415G>A (p.Gly139Ser)
n.11G>A
n.259G>A
c.138G>A (p.Gly46=)
c.219G>A (p.Gly73=)
n.556G>A
n.549G>A
11g.108138978G>CCA476672122ACAT1c.516G>C (p.Gly172=)
n.611G>C
c.*74G>C (n.*74G>C)
c.246G>C (p.Gly82=)
c.153G>C (p.Gly51=)
c.201G>C (p.Gly67=)
n.604G>C
c.322G>C
c.415G>C (p.Gly139Arg)
n.11G>C
n.259G>C
c.138G>C (p.Gly46=)
c.219G>C (p.Gly73=)
n.556G>C
n.549G>C
11g.108138978G>TCA476672123ACAT1c.516G>T (p.Gly172=)
n.611G>T
c.*74G>T (n.*74G>T)
c.246G>T (p.Gly82=)
c.153G>T (p.Gly51=)
c.201G>T (p.Gly67=)
n.604G>T
c.322G>T
c.415G>T (p.Gly139Cys)
n.11G>T
n.259G>T
c.138G>T (p.Gly46=)
c.219G>T (p.Gly73=)
n.556G>T
n.549G>T
11g.108138979G>ACA382507218ACAT1c.517G>A (p.Val173Ile)
n.612G>A
c.*75G>A (n.*75G>A)
c.247G>A (p.Val83Ile)
c.154G>A (p.Val52Ile)
c.202G>A (p.Val68Ile)
n.605G>A
c.323G>A
c.416G>A (p.Gly139Asp)
n.12G>A
n.260G>A
c.139G>A (p.Val47Ile)
c.220G>A (p.Val74Ile)
n.557G>A
n.550G>A
 gnomAD v4
11g.108138979G>CCA382507219ACAT1c.517G>C (p.Val173Leu)
n.612G>C
c.*75G>C (n.*75G>C)
c.247G>C (p.Val83Leu)
c.154G>C (p.Val52Leu)
c.202G>C (p.Val68Leu)
n.605G>C
c.323G>C
c.416G>C (p.Gly139Ala)
n.12G>C
n.260G>C
c.139G>C (p.Val47Leu)
c.220G>C (p.Val74Leu)
n.557G>C
n.550G>C
11g.108138979G>TCA382507220ACAT1c.517G>T (p.Val173Leu)
n.612G>T
c.*75G>T (n.*75G>T)
c.247G>T (p.Val83Leu)
c.154G>T (p.Val52Leu)
c.202G>T (p.Val68Leu)
n.605G>T
c.323G>T
c.416G>T (p.Gly139Val)
n.12G>T
n.260G>T
c.139G>T (p.Val47Leu)
c.220G>T (p.Val74Leu)
n.557G>T
n.550G>T
11g.108138980T>ACA382507221ACAT1c.518T>A (p.Val173Glu)
n.613T>A
c.*76T>A (n.*76T>A)
c.248T>A (p.Val83Glu)
c.155T>A (p.Val52Glu)
c.203T>A (p.Val68Glu)
n.606T>A
c.324T>A
c.417T>A (p.Gly139=)
n.13T>A
n.261T>A
c.140T>A (p.Val47Glu)
c.221T>A (p.Val74Glu)
n.558T>A
n.551T>A
11g.108138980T>CCA382507222ACAT1c.518T>C (p.Val173Ala)
n.613T>C
c.*76T>C (n.*76T>C)
c.248T>C (p.Val83Ala)
c.155T>C (p.Val52Ala)
c.203T>C (p.Val68Ala)
n.606T>C
c.324T>C
c.417T>C (p.Gly139=)
n.13T>C
n.261T>C
c.140T>C (p.Val47Ala)
c.221T>C (p.Val74Ala)
n.558T>C
n.551T>C
11g.108138980T>GCA382507223ACAT1c.518T>G (p.Val173Gly)
n.613T>G
c.*76T>G (n.*76T>G)
c.248T>G (p.Val83Gly)
c.155T>G (p.Val52Gly)
c.203T>G (p.Val68Gly)
n.606T>G
c.324T>G
c.417T>G (p.Gly139=)
n.13T>G
n.261T>G
c.140T>G (p.Val47Gly)
c.221T>G (p.Val74Gly)
n.558T>G
n.551T>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.108138980T=CA1998717047ACAT1c.518T= (p.Val173=)
n.613T=
c.*76T= (n.*76T=)
c.248T= (p.Val83=)
c.155T= (p.Val52=)
c.203T= (p.Val68=)
n.606T=
c.324T=
c.417T= (p.Gly139=)
n.13T=
n.261T=
c.140T= (p.Val47=)
c.221T= (p.Val74=)
n.558T=
n.551T=
11g.108138981A>CCA476672124ACAT1c.519A>C (p.Val173=)
n.614A>C
c.*77A>C (n.*77A>C)
c.249A>C (p.Val83=)
c.156A>C (p.Val52=)
c.204A>C (p.Val68=)
n.607A>C
c.325A>C
c.418A>C (p.Lys140Gln)
n.14A>C
n.262A>C
c.141A>C (p.Val47=)
c.222A>C (p.Val74=)
n.559A>C
n.552A>C
11g.108138981A>GCA476672125ACAT1c.519A>G (p.Val173=)
n.614A>G
c.*77A>G (n.*77A>G)
c.249A>G (p.Val83=)
c.156A>G (p.Val52=)
c.204A>G (p.Val68=)
n.607A>G
c.325A>G
c.418A>G (p.Lys140Glu)
n.14A>G
n.262A>G
c.141A>G (p.Val47=)
c.222A>G (p.Val74=)
n.559A>G
n.552A>G
 gnomAD v4
11g.108138981A>TCA476672126ACAT1c.519A>T (p.Val173=)
n.614A>T
c.*77A>T (n.*77A>T)
c.249A>T (p.Val83=)
c.156A>T (p.Val52=)
c.204A>T (p.Val68=)
n.607A>T
c.325A>T
c.418A>T (p.Lys140Ter)
n.14A>T
n.262A>T
c.141A>T (p.Val47=)
c.222A>T (p.Val74=)
n.559A>T
n.552A>T
 gnomAD v4
11g.108138982A=CA1998717048ACAT1c.520A= (p.Lys174=)
n.615A=
c.*78A= (n.*78A=)
c.250A= (p.Lys84=)
c.157A= (p.Lys53=)
c.205A= (p.Lys69=)
n.608A=
c.326A=
c.419A= (p.Lys140=)
n.15A=
n.263A=
c.142A= (p.Lys48=)
c.223A= (p.Lys75=)
n.560A=
n.553A=
11g.108138982A>CCA382507225ACAT1c.520A>C (p.Lys174Gln)
n.615A>C
c.*78A>C (n.*78A>C)
c.250A>C (p.Lys84Gln)
c.157A>C (p.Lys53Gln)
c.205A>C (p.Lys69Gln)
n.608A>C
c.326A>C
c.419A>C (p.Lys140Thr)
n.15A>C
n.263A>C
c.142A>C (p.Lys48Gln)
c.223A>C (p.Lys75Gln)
n.560A>C
n.553A>C
 gnomAD v4
11g.108138982A>GCA6263148ACAT1c.520A>G (p.Lys174Glu)
n.615A>G
c.*78A>G (n.*78A>G)
c.250A>G (p.Lys84Glu)
c.157A>G (p.Lys53Glu)
c.205A>G (p.Lys69Glu)
n.608A>G
c.326A>G
c.419A>G (p.Lys140Arg)
n.15A>G
n.263A>G
c.142A>G (p.Lys48Glu)
c.223A>G (p.Lys75Glu)
n.560A>G
n.553A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.108138982A>TCA382507224ACAT1c.520A>T (p.Lys174Ter)
n.615A>T
c.*78A>T (n.*78A>T)
c.250A>T (p.Lys84Ter)
c.157A>T (p.Lys53Ter)
c.205A>T (p.Lys69Ter)
n.608A>T
c.326A>T
c.419A>T (p.Lys140Ile)
n.15A>T
n.263A>T
c.142A>T (p.Lys48Ter)
c.223A>T (p.Lys75Ter)
n.560A>T
n.553A>T
11g.108138983A>CCA382507227ACAT1c.521A>C (p.Lys174Thr)
n.616A>C
c.*79A>C (n.*79A>C)
c.251A>C (p.Lys84Thr)
c.158A>C (p.Lys53Thr)
c.206A>C (p.Lys69Thr)
n.609A>C
c.327A>C
c.420A>C (p.Lys140Asn)
n.16A>C
n.264A>C
c.143A>C (p.Lys48Thr)
c.224A>C (p.Lys75Thr)
n.561A>C
n.554A>C
11g.108138983A>GCA382507226ACAT1c.521A>G (p.Lys174Arg)
n.616A>G
c.*79A>G (n.*79A>G)
c.251A>G (p.Lys84Arg)
c.158A>G (p.Lys53Arg)
c.206A>G (p.Lys69Arg)
n.609A>G
c.327A>G
c.420A>G (p.Lys140=)
n.16A>G
n.264A>G
c.143A>G (p.Lys48Arg)
c.224A>G (p.Lys75Arg)
n.561A>G
n.554A>G
11g.108138983A>TCA382507228ACAT1c.521A>T (p.Lys174Met)
n.616A>T
c.*79A>T (n.*79A>T)
c.251A>T (p.Lys84Met)
c.158A>T (p.Lys53Met)
c.206A>T (p.Lys69Met)
n.609A>T
c.327A>T
c.420A>T (p.Lys140Asn)
n.16A>T
n.264A>T
c.143A>T (p.Lys48Met)
c.224A>T (p.Lys75Met)
n.561A>T
n.554A>T
11g.108138984G>ACA476672130ACAT1c.522G>A (p.Lys174=)
n.617G>A
c.*80G>A (n.*80G>A)
c.252G>A (p.Lys84=)
c.159G>A (p.Lys53=)
c.207G>A (p.Lys69=)
n.610G>A
c.328G>A
c.421G>A (p.Ala141Thr)
n.17G>A
n.265G>A
c.144G>A (p.Lys48=)
c.225G>A (p.Lys75=)
n.562G>A
n.555G>A
 dbSNP
11g.108138984G>CCA6263149ACAT1c.522G>C (p.Lys174Asn)
n.617G>C
c.*80G>C (n.*80G>C)
c.252G>C (p.Lys84Asn)
c.159G>C (p.Lys53Asn)
c.207G>C (p.Lys69Asn)
n.610G>C
c.328G>C
c.421G>C (p.Ala141Pro)
n.17G>C
n.265G>C
c.144G>C (p.Lys48Asn)
c.225G>C (p.Lys75Asn)
n.562G>C
n.555G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.108138984G=CA1998717049ACAT1c.522G= (p.Lys174=)
n.617G=
c.*80G= (n.*80G=)
c.252G= (p.Lys84=)
c.159G= (p.Lys53=)
c.207G= (p.Lys69=)
n.610G=
c.328G=
c.421G= (p.Ala141=)
n.17G=
n.265G=
c.144G= (p.Lys48=)
c.225G= (p.Lys75=)
n.562G=
n.555G=
11g.108138984G>TCA228403407ACAT1c.522G>T (p.Lys174Asn)
n.617G>T
c.*80G>T (n.*80G>T)
c.252G>T (p.Lys84Asn)
c.159G>T (p.Lys53Asn)
c.207G>T (p.Lys69Asn)
n.610G>T
c.328G>T
c.421G>T (p.Ala141Ser)
n.17G>T
n.265G>T
c.144G>T (p.Lys48Asn)
c.225G>T (p.Lys75Asn)
n.562G>T
n.555G>T
 dbSNP gnomAD v3 gnomAD v4
11g.108138985C>ACA382507229ACAT1c.523C>A (p.Leu175Ile)
n.618C>A
c.*81C>A (n.*81C>A)
c.253C>A (p.Leu85Ile)
c.160C>A (p.Leu54Ile)
c.208C>A (p.Leu70Ile)
n.611C>A
c.329C>A
c.422C>A (p.Ala141Asp)
n.18C>A
n.266C>A
c.145C>A (p.Leu49Ile)
c.226C>A (p.Leu76Ile)
n.563C>A
n.556C>A
11g.108138985C=CA1998717050ACAT1c.523C= (p.Leu175=)
n.618C=
c.*81C= (n.*81C=)
c.253C= (p.Leu85=)
c.160C= (p.Leu54=)
c.208C= (p.Leu70=)
n.611C=
c.329C=
c.422C= (p.Ala141=)
n.18C=
n.266C=
c.145C= (p.Leu49=)
c.226C= (p.Leu76=)
n.563C=
n.556C=
11g.108138985C>GCA6263150ACAT1c.523C>G (p.Leu175Val)
n.618C>G
c.*81C>G (n.*81C>G)
c.253C>G (p.Leu85Val)
c.160C>G (p.Leu54Val)
c.208C>G (p.Leu70Val)
n.611C>G
c.329C>G
c.422C>G (p.Ala141Gly)
n.18C>G
n.266C>G
c.145C>G (p.Leu49Val)
c.226C>G (p.Leu76Val)
n.563C>G
n.556C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.108138985C>TCA382507230ACAT1c.523C>T (p.Leu175Phe)
n.618C>T
c.*81C>T (n.*81C>T)
c.253C>T (p.Leu85Phe)
c.160C>T (p.Leu54Phe)
c.208C>T (p.Leu70Phe)
n.611C>T
c.329C>T
c.422C>T (p.Ala141Val)
n.18C>T
n.266C>T
c.145C>T (p.Leu49Phe)
c.226C>T (p.Leu76Phe)
n.563C>T
n.556C>T
 gnomAD v4
11g.108138986T>ACA382507231ACAT1c.524T>A (p.Leu175His)
n.619T>A
c.*82T>A (n.*82T>A)
c.254T>A (p.Leu85His)
c.161T>A (p.Leu54His)
c.209T>A (p.Leu70His)
n.612T>A
c.330T>A
c.423T>A (p.Ala141=)
n.19T>A
n.267T>A
c.146T>A (p.Leu49His)
c.227T>A (p.Leu76His)
n.564T>A
n.557T>A
11g.108138986T>CCA382507232ACAT1c.524T>C (p.Leu175Pro)
n.619T>C
c.*82T>C (n.*82T>C)
c.254T>C (p.Leu85Pro)
c.161T>C (p.Leu54Pro)
c.209T>C (p.Leu70Pro)
n.612T>C
c.330T>C
c.423T>C (p.Ala141=)
n.19T>C
n.267T>C
c.146T>C (p.Leu49Pro)
c.227T>C (p.Leu76Pro)
n.564T>C
n.557T>C
11g.108138986T>GCA382507233ACAT1c.524T>G (p.Leu175Arg)
n.619T>G
c.*82T>G (n.*82T>G)
c.254T>G (p.Leu85Arg)
c.161T>G (p.Leu54Arg)
c.209T>G (p.Leu70Arg)
n.612T>G
c.330T>G
c.423T>G (p.Ala141=)
n.19T>G
n.267T>G
c.146T>G (p.Leu49Arg)
c.227T>G (p.Leu76Arg)
n.564T>G
n.557T>G
11g.108138987T>ACA476672133ACAT1c.525T>A (p.Leu175=)
n.620T>A
c.*83T>A (n.*83T>A)
c.255T>A (p.Leu85=)
c.162T>A (p.Leu54=)
c.210T>A (p.Leu70=)
n.613T>A
c.331T>A
c.424T>A (p.Ter142Arg)
n.20T>A
n.268T>A
c.147T>A (p.Leu49=)
c.228T>A (p.Leu76=)
n.565T>A
n.558T>A
11g.108138987T>CCA476672134ACAT1c.525T>C (p.Leu175=)
n.620T>C
c.*83T>C (n.*83T>C)
c.255T>C (p.Leu85=)
c.162T>C (p.Leu54=)
c.210T>C (p.Leu70=)
n.613T>C
c.331T>C
c.424T>C (p.Ter142Arg)
n.20T>C
n.268T>C
c.147T>C (p.Leu49=)
c.228T>C (p.Leu76=)
n.565T>C
n.558T>C
11g.108138987T>GCA476672135ACAT1c.525T>G (p.Leu175=)
n.620T>G
c.*83T>G (n.*83T>G)
c.255T>G (p.Leu85=)
c.162T>G (p.Leu54=)
c.210T>G (p.Leu70=)
n.613T>G
c.331T>G
c.424T>G (p.Ter142Gly)
n.20T>G
n.268T>G
c.147T>G (p.Leu49=)
c.228T>G (p.Leu76=)
n.565T>G
n.558T>G
11g.108138988G>ACA382507234ACAT1c.526G>A (p.Glu176Lys)
n.621G>A
c.*84G>A (n.*84G>A)
c.256G>A (p.Glu86Lys)
c.163G>A (p.Glu55Lys)
c.211G>A (p.Glu71Lys)
n.614G>A
c.332G>A
c.425G>A (p.Ter142=)
n.21G>A
n.269G>A
c.148G>A (p.Glu50Lys)
c.229G>A (p.Glu77Lys)
n.566G>A
n.559G>A
11g.108138988G>CCA382507235ACAT1c.526G>C (p.Glu176Gln)
n.621G>C
c.*84G>C (n.*84G>C)
c.256G>C (p.Glu86Gln)
c.163G>C (p.Glu55Gln)
c.211G>C (p.Glu71Gln)
n.614G>C
c.332G>C
c.425G>C (p.Ter142Ser)
n.21G>C
n.269G>C
c.148G>C (p.Glu50Gln)
c.229G>C (p.Glu77Gln)
n.566G>C
n.559G>C
11g.108138988G>TCA382507236ACAT1c.526G>T (p.Glu176Ter)
n.621G>T
c.*84G>T (n.*84G>T)
c.256G>T (p.Glu86Ter)
c.163G>T (p.Glu55Ter)
c.211G>T (p.Glu71Ter)
n.614G>T
c.332G>T
c.425G>T (p.Ter142Leu)
n.21G>T
n.269G>T
c.148G>T (p.Glu50Ter)
c.229G>T (p.Glu77Ter)
n.566G>T
n.559G>T
11g.108138989A>CCA382507239ACAT1c.527A>C (p.Glu176Ala)
n.622A>C
c.*85A>C (n.*85A>C)
c.257A>C (p.Glu86Ala)
c.164A>C (p.Glu55Ala)
c.212A>C (p.Glu71Ala)
n.615A>C
c.333A>C
c.426A>C (p.Ter142Cys)
n.22A>C
n.270A>C
c.149A>C (p.Glu50Ala)
c.230A>C (p.Glu77Ala)
n.567A>C
n.560A>C
11g.108138989A>GCA382507238ACAT1c.527A>G (p.Glu176Gly)
n.622A>G
c.*85A>G (n.*85A>G)
c.257A>G (p.Glu86Gly)
c.164A>G (p.Glu55Gly)
c.212A>G (p.Glu71Gly)
n.615A>G
c.333A>G
c.426A>G (p.Ter142Trp)
n.22A>G
n.270A>G
c.149A>G (p.Glu50Gly)
c.230A>G (p.Glu77Gly)
n.567A>G
n.560A>G
 ClinVar
11g.108138989A>TCA382507237ACAT1c.527A>T (p.Glu176Val)
n.622A>T
c.*85A>T (n.*85A>T)
c.257A>T (p.Glu86Val)
c.164A>T (p.Glu55Val)
c.212A>T (p.Glu71Val)
n.615A>T
c.333A>T
c.426A>T (p.Ter142Cys)
n.22A>T
n.270A>T
c.149A>T (p.Glu50Val)
c.230A>T (p.Glu77Val)
n.567A>T
n.560A>T
11g.108138990A=CA1998717051ACAT1c.528A= (p.Glu176=)
n.623A=
c.*86A= (n.*86A=)
c.258A= (p.Glu86=)
c.165A= (p.Glu55=)
c.213A= (p.Glu71=)
n.616A=
c.334A=
c.*1A= (n.*1A=)
n.23A=
n.271A=
c.150A= (p.Glu50=)
c.231A= (p.Glu77=)
n.568A=
n.561A=
11g.108138990A>CCA6263151ACAT1c.528A>C (p.Glu176Asp)
n.623A>C
c.*86A>C (n.*86A>C)
c.258A>C (p.Glu86Asp)
c.165A>C (p.Glu55Asp)
c.213A>C (p.Glu71Asp)
n.616A>C
c.334A>C
c.*1A>C (n.*1A>C)
n.23A>C
n.271A>C
c.150A>C (p.Glu50Asp)
c.231A>C (p.Glu77Asp)
n.568A>C
n.561A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.108138990A>GCA476672138ACAT1c.528A>G (p.Glu176=)
n.623A>G
c.*86A>G (n.*86A>G)
c.258A>G (p.Glu86=)
c.165A>G (p.Glu55=)
c.213A>G (p.Glu71=)
n.616A>G
c.334A>G
c.*1A>G (n.*1A>G)
n.23A>G
n.271A>G
c.150A>G (p.Glu50=)
c.231A>G (p.Glu77=)
n.568A>G
n.561A>G
11g.108138990A>TCA382507240ACAT1c.528A>T (p.Glu176Asp)
n.623A>T
c.*86A>T (n.*86A>T)
c.258A>T (p.Glu86Asp)
c.165A>T (p.Glu55Asp)
c.213A>T (p.Glu71Asp)
n.616A>T
c.334A>T
c.*1A>T (n.*1A>T)
n.23A>T
n.271A>T
c.150A>T (p.Glu50Asp)
c.231A>T (p.Glu77Asp)
n.568A>T
n.561A>T
11g.108138991G>ACA382507241ACAT1c.529G>A (p.Asp177Asn)
n.624G>A
c.*87G>A (n.*87G>A)
c.259G>A (p.Asp87Asn)
c.166G>A (p.Asp56Asn)
c.214G>A (p.Asp72Asn)
n.617G>A
c.335G>A
c.*2G>A (n.*2G>A)
n.24G>A
n.272G>A
c.151G>A (p.Asp51Asn)
c.232G>A (p.Asp78Asn)
n.569G>A
n.562G>A
11g.108138991G>CCA382507242ACAT1c.529G>C (p.Asp177His)
n.624G>C
c.*87G>C (n.*87G>C)
c.259G>C (p.Asp87His)
c.166G>C (p.Asp56His)
c.214G>C (p.Asp72His)
n.617G>C
c.335G>C
c.*2G>C (n.*2G>C)
n.24G>C
n.272G>C
c.151G>C (p.Asp51His)
c.232G>C (p.Asp78His)
n.569G>C
n.562G>C
11g.108138991G>TCA382507243ACAT1c.529G>T (p.Asp177Tyr)
n.624G>T
c.*87G>T (n.*87G>T)
c.259G>T (p.Asp87Tyr)
c.166G>T (p.Asp56Tyr)
c.214G>T (p.Asp72Tyr)
n.617G>T
c.335G>T
c.*2G>T (n.*2G>T)
n.24G>T
n.272G>T
c.151G>T (p.Asp51Tyr)
c.232G>T (p.Asp78Tyr)
n.569G>T
n.562G>T
11g.108138992A>CCA382507244ACAT1c.530A>C (p.Asp177Ala)
n.625A>C
c.*88A>C (n.*88A>C)
c.260A>C (p.Asp87Ala)
c.167A>C (p.Asp56Ala)
c.215A>C (p.Asp72Ala)
n.618A>C
c.336A>C
c.*3A>C (n.*3A>C)
n.25A>C
n.273A>C
c.152A>C (p.Asp51Ala)
c.233A>C (p.Asp78Ala)
n.570A>C
n.563A>C
11g.108138992A>GCA382507245ACAT1c.530A>G (p.Asp177Gly)
n.625A>G
c.*88A>G (n.*88A>G)
c.260A>G (p.Asp87Gly)
c.167A>G (p.Asp56Gly)
c.215A>G (p.Asp72Gly)
n.618A>G
c.336A>G
c.*3A>G (n.*3A>G)
n.25A>G
n.273A>G
c.152A>G (p.Asp51Gly)
c.233A>G (p.Asp78Gly)
n.570A>G
n.563A>G
11g.108138992A>TCA382507246ACAT1c.530A>T (p.Asp177Val)
n.625A>T
c.*88A>T (n.*88A>T)
c.260A>T (p.Asp87Val)
c.167A>T (p.Asp56Val)
c.215A>T (p.Asp72Val)
n.618A>T
c.336A>T
c.*3A>T (n.*3A>T)
n.25A>T
n.273A>T
c.152A>T (p.Asp51Val)
c.233A>T (p.Asp78Val)
n.570A>T
n.563A>T
11g.108138993T>ACA382507247ACAT1c.531T>A (p.Asp177Glu)
n.626T>A
c.*89T>A (n.*89T>A)
c.261T>A (p.Asp87Glu)
c.168T>A (p.Asp56Glu)
c.216T>A (p.Asp72Glu)
n.619T>A
c.337T>A
c.*4T>A (n.*4T>A)
n.26T>A
n.274T>A
c.153T>A (p.Asp51Glu)
c.234T>A (p.Asp78Glu)
n.571T>A
n.564T>A
11g.108138993T>CCA476672143ACAT1c.531T>C (p.Asp177=)
n.626T>C
c.*89T>C (n.*89T>C)
c.261T>C (p.Asp87=)
c.168T>C (p.Asp56=)
c.216T>C (p.Asp72=)
n.619T>C
c.337T>C
c.*4T>C (n.*4T>C)
n.26T>C
n.274T>C
c.153T>C (p.Asp51=)
c.234T>C (p.Asp78=)
n.571T>C
n.564T>C
 ClinVar dbSNP
11g.108138993T>GCA382507248ACAT1c.531T>G (p.Asp177Glu)
n.626T>G
c.*89T>G (n.*89T>G)
c.261T>G (p.Asp87Glu)
c.168T>G (p.Asp56Glu)
c.216T>G (p.Asp72Glu)
n.619T>G
c.337T>G
c.*4T>G (n.*4T>G)
n.26T>G
n.274T>G
c.153T>G (p.Asp51Glu)
c.234T>G (p.Asp78Glu)
n.571T>G
n.564T>G
11g.108138993T=CA1998717052ACAT1c.531T= (p.Asp177=)
n.626T=
c.*89T= (n.*89T=)
c.261T= (p.Asp87=)
c.168T= (p.Asp56=)
c.216T= (p.Asp72=)
n.619T=
c.337T=
c.*4T= (n.*4T=)
n.26T=
n.274T=
c.153T= (p.Asp51=)
c.234T= (p.Asp78=)
n.571T=
n.564T=
11g.108138994T>ACA382507249ACAT1c.532T>A (p.Leu178Met)
n.627T>A
c.*90T>A (n.*90T>A)
c.262T>A (p.Leu88Met)
c.169T>A (p.Leu57Met)
c.217T>A (p.Leu73Met)
n.620T>A
c.338T>A
c.*5T>A (n.*5T>A)
n.27T>A
n.275T>A
c.154T>A (p.Leu52Met)
c.235T>A (p.Leu79Met)
n.572T>A
n.565T>A
 dbSNP gnomAD v3 gnomAD v4
11g.108138994T>CCA6263152ACAT1c.532T>C (p.Leu178=)
n.627T>C
c.*90T>C (n.*90T>C)
c.262T>C (p.Leu88=)
c.169T>C (p.Leu57=)
c.217T>C (p.Leu73=)
n.620T>C
c.338T>C
c.*5T>C (n.*5T>C)
n.27T>C
n.275T>C
c.154T>C (p.Leu52=)
c.235T>C (p.Leu79=)
n.572T>C
n.565T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.108138994T>GCA382507250ACAT1c.532T>G (p.Leu178Val)
n.627T>G
c.*90T>G (n.*90T>G)
c.262T>G (p.Leu88Val)
c.169T>G (p.Leu57Val)
c.217T>G (p.Leu73Val)
n.620T>G
c.338T>G
c.*5T>G (n.*5T>G)
n.27T>G
n.275T>G
c.154T>G (p.Leu52Val)
c.235T>G (p.Leu79Val)
n.572T>G
n.565T>G
 gnomAD v4
11g.108138994T=CA1998717053ACAT1c.532T= (p.Leu178=)
n.627T=
c.*90T= (n.*90T=)
c.262T= (p.Leu88=)
c.169T= (p.Leu57=)
c.217T= (p.Leu73=)
n.620T=
c.338T=
c.*5T= (n.*5T=)
n.27T=
n.275T=
c.154T= (p.Leu52=)
c.235T= (p.Leu79=)
n.572T=
n.565T=
11g.108138995T>ACA382507253ACAT1c.533T>A (p.Leu178Ter)
n.628T>A
c.*91T>A (n.*91T>A)
c.263T>A (p.Leu88Ter)
c.170T>A (p.Leu57Ter)
c.218T>A (p.Leu73Ter)
n.621T>A
c.339T>A
c.*6T>A (n.*6T>A)
n.28T>A
n.276T>A
c.155T>A (p.Leu52Ter)
c.236T>A (p.Leu79Ter)
n.573T>A
n.566T>A
11g.108138995T>CCA382507252ACAT1c.533T>C (p.Leu178Ser)
n.628T>C
c.*91T>C (n.*91T>C)
c.263T>C (p.Leu88Ser)
c.170T>C (p.Leu57Ser)
c.218T>C (p.Leu73Ser)
n.621T>C
c.339T>C
c.*6T>C (n.*6T>C)
n.28T>C
n.276T>C
c.155T>C (p.Leu52Ser)
c.236T>C (p.Leu79Ser)
n.573T>C
n.566T>C
11g.108138995T>GCA382507251ACAT1c.533T>G (p.Leu178Trp)
n.628T>G
c.*91T>G (n.*91T>G)
c.263T>G (p.Leu88Trp)
c.170T>G (p.Leu57Trp)
c.218T>G (p.Leu73Trp)
n.621T>G
c.339T>G
c.*6T>G (n.*6T>G)
n.28T>G
n.276T>G
c.155T>G (p.Leu52Trp)
c.236T>G (p.Leu79Trp)
n.573T>G
n.566T>G
11g.108138996G>ACA476672146ACAT1c.534G>A (p.Leu178=)
n.629G>A
c.*92G>A (n.*92G>A)
c.264G>A (p.Leu88=)
c.171G>A (p.Leu57=)
c.219G>A (p.Leu73=)
n.622G>A
c.340G>A
c.*7G>A (n.*7G>A)
n.29G>A
n.277G>A
c.156G>A (p.Leu52=)
c.237G>A (p.Leu79=)
n.574G>A
n.567G>A
11g.108138996G>CCA382507255ACAT1c.534G>C (p.Leu178Phe)
n.629G>C
c.*92G>C (n.*92G>C)
c.264G>C (p.Leu88Phe)
c.171G>C (p.Leu57Phe)
c.219G>C (p.Leu73Phe)
n.622G>C
c.340G>C
c.*7G>C (n.*7G>C)
n.29G>C
n.277G>C
c.156G>C (p.Leu52Phe)
c.237G>C (p.Leu79Phe)
n.574G>C
n.567G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.108138996G=CA1998717054ACAT1c.534G= (p.Leu178=)
n.629G=
c.*92G= (n.*92G=)
c.264G= (p.Leu88=)
c.171G= (p.Leu57=)
c.219G= (p.Leu73=)
n.622G=
c.340G=
c.*7G= (n.*7G=)
n.29G=
n.277G=
c.156G= (p.Leu52=)
c.237G= (p.Leu79=)
n.574G=
n.567G=
11g.108138996G>TCA382507254ACAT1c.534G>T (p.Leu178Phe)
n.629G>T
c.*92G>T (n.*92G>T)
c.264G>T (p.Leu88Phe)
c.171G>T (p.Leu57Phe)
c.219G>T (p.Leu73Phe)
n.622G>T
c.340G>T
c.*7G>T (n.*7G>T)
n.29G>T
n.277G>T
c.156G>T (p.Leu52Phe)
c.237G>T (p.Leu79Phe)
n.574G>T
n.567G>T
 ClinVar dbSNP
11g.108138997A>CCA382507256ACAT1c.535A>C (p.Ile179Leu)
n.630A>C
c.*93A>C (n.*93A>C)
c.265A>C (p.Ile89Leu)
c.172A>C (p.Ile58Leu)
c.220A>C (p.Ile74Leu)
n.623A>C
c.341A>C
c.*8A>C (n.*8A>C)
n.30A>C
n.278A>C
c.157A>C (p.Ile53Leu)
c.238A>C (p.Ile80Leu)
n.575A>C
n.568A>C
11g.108138997A>GCA382507257ACAT1c.535A>G (p.Ile179Val)
n.630A>G
c.*93A>G (n.*93A>G)
c.265A>G (p.Ile89Val)
c.172A>G (p.Ile58Val)
c.220A>G (p.Ile74Val)
n.623A>G
c.341A>G
c.*8A>G (n.*8A>G)
n.30A>G
n.278A>G
c.157A>G (p.Ile53Val)
c.238A>G (p.Ile80Val)
n.575A>G
n.568A>G
11g.108138997A>TCA382507258ACAT1c.535A>T (p.Ile179Phe)
n.630A>T
c.*93A>T (n.*93A>T)
c.265A>T (p.Ile89Phe)
c.172A>T (p.Ile58Phe)
c.220A>T (p.Ile74Phe)
n.623A>T
c.341A>T
c.*8A>T (n.*8A>T)
n.30A>T
n.278A>T
c.157A>T (p.Ile53Phe)
c.238A>T (p.Ile80Phe)
n.575A>T
n.568A>T
11g.108138997_108138998delinsATCA1998717055ACAT1c.535_536delinsAT (p.Ile179=)
n.630_631delinsAT
c.*93_*94delinsAT (n.*93_*94delinsAT)
c.265_266delinsAT (p.Ile89=)
c.172_173delinsAT (p.Ile58=)
c.220_221delinsAT (p.Ile74=)
n.623_624delinsAT
c.341_342delinsAT
c.*8_*9delinsAT (n.*8_*9delinsAT)
n.30_31delinsAT
n.278_279delinsAT
c.157_158delinsAT (p.Ile53=)
c.238_239delinsAT (p.Ile80=)
n.575_576delinsAT
n.568_569delinsAT
11g.108138998T>ACA382507259ACAT1c.536T>A (p.Ile179Asn)
n.631T>A
c.*94T>A (n.*94T>A)
c.266T>A (p.Ile89Asn)
c.173T>A (p.Ile58Asn)
c.221T>A (p.Ile74Asn)
n.624T>A
c.342T>A
c.*9T>A (n.*9T>A)
n.31T>A
n.279T>A
c.158T>A (p.Ile53Asn)
c.239T>A (p.Ile80Asn)
n.576T>A
n.569T>A
11g.108138998T>CCA382507260ACAT1c.536T>C (p.Ile179Thr)
n.631T>C
c.*94T>C (n.*94T>C)
c.266T>C (p.Ile89Thr)
c.173T>C (p.Ile58Thr)
c.221T>C (p.Ile74Thr)
n.624T>C
c.342T>C
c.*9T>C (n.*9T>C)
n.31T>C
n.279T>C
c.158T>C (p.Ile53Thr)
c.239T>C (p.Ile80Thr)
n.576T>C
n.569T>C
 dbSNP gnomAD v3 gnomAD v4
11g.108138998T>GCA382507261ACAT1c.536T>G (p.Ile179Ser)
n.631T>G
c.*94T>G (n.*94T>G)
c.266T>G (p.Ile89Ser)
c.173T>G (p.Ile58Ser)
c.221T>G (p.Ile74Ser)
n.624T>G
c.342T>G
c.*9T>G (n.*9T>G)
n.31T>G
n.279T>G
c.158T>G (p.Ile53Ser)
c.239T>G (p.Ile80Ser)
n.576T>G
n.569T>G
11g.108138998T=CA1998717056ACAT1c.536T= (p.Ile179=)
n.631T=
c.*94T= (n.*94T=)
c.266T= (p.Ile89=)
c.173T= (p.Ile58=)
c.221T= (p.Ile74=)
n.624T=
c.342T=
c.*9T= (n.*9T=)
n.31T=
n.279T=
c.158T= (p.Ile53=)
c.239T= (p.Ile80=)
n.576T=
n.569T=
11g.108138999delCA671408036ACAT1c.537del (p.Ile179MetfsTer2)
n.632del
c.*95del (n.*95del)
c.267del (p.Ile89MetfsTer2)
c.174del (p.Ile58MetfsTer2)
c.222del (p.Ile74MetfsTer2)
n.625del
c.343del
c.*10del (n.*10del)
n.32del
n.280del
c.159del (p.Ile53MetfsTer2)
c.240del (p.Ile80MetfsTer2)
n.577del
n.570del
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.108138999T>ACA476672148ACAT1c.537T>A (p.Ile179=)
n.632T>A
c.*95T>A (n.*95T>A)
c.267T>A (p.Ile89=)
c.174T>A (p.Ile58=)
c.222T>A (p.Ile74=)
n.625T>A
c.343T>A
c.*10T>A (n.*10T>A)
n.32T>A
n.280T>A
c.159T>A (p.Ile53=)
c.240T>A (p.Ile80=)
n.577T>A
n.570T>A
11g.108138999T>CCA476672147ACAT1c.537T>C (p.Ile179=)
n.632T>C
c.*95T>C (n.*95T>C)
c.267T>C (p.Ile89=)
c.174T>C (p.Ile58=)
c.222T>C (p.Ile74=)
n.625T>C
c.343T>C
c.*10T>C (n.*10T>C)
n.32T>C
n.280T>C
c.159T>C (p.Ile53=)
c.240T>C (p.Ile80=)
n.577T>C
n.570T>C
 ClinVar
11g.108138999T>GCA382507262ACAT1c.537T>G (p.Ile179Met)
n.632T>G
c.*95T>G (n.*95T>G)
c.267T>G (p.Ile89Met)
c.174T>G (p.Ile58Met)
c.222T>G (p.Ile74Met)
n.625T>G
c.343T>G
c.*10T>G (n.*10T>G)
n.32T>G
n.280T>G
c.159T>G (p.Ile53Met)
c.240T>G (p.Ile80Met)
n.577T>G
n.570T>G
11g.108139000G>ACA382507263ACAT1c.538G>A (p.Val180Ile)
n.633G>A
c.*96G>A (n.*96G>A)
c.268G>A (p.Val90Ile)
c.175G>A (p.Val59Ile)
c.223G>A (p.Val75Ile)
n.626G>A
c.344G>A
c.*11G>A (n.*11G>A)
n.33G>A
n.281G>A
c.160G>A (p.Val54Ile)
c.241G>A (p.Val81Ile)
n.578G>A
n.571G>A
11g.108139000G>CCA382507264ACAT1c.538G>C (p.Val180Leu)
n.633G>C
c.*96G>C (n.*96G>C)
c.268G>C (p.Val90Leu)
c.175G>C (p.Val59Leu)
c.223G>C (p.Val75Leu)
n.626G>C
c.344G>C
c.*11G>C (n.*11G>C)
n.33G>C
n.281G>C
c.160G>C (p.Val54Leu)
c.241G>C (p.Val81Leu)
n.578G>C
n.571G>C
11g.108139000G>TCA382507265ACAT1c.538G>T (p.Val180Leu)
n.633G>T
c.*96G>T (n.*96G>T)
c.268G>T (p.Val90Leu)
c.175G>T (p.Val59Leu)
c.223G>T (p.Val75Leu)
n.626G>T
c.344G>T
c.*11G>T (n.*11G>T)
n.33G>T
n.281G>T
c.160G>T (p.Val54Leu)
c.241G>T (p.Val81Leu)
n.578G>T
n.571G>T
11g.108139001_108139009delCA2615814682ACAT1c.539_547del (p.Val180_Asp182del)
n.634_642del
c.*97_*105del (n.*97_*105del)
c.269_277del (p.Val90_Asp92del)
c.176_184del (p.Val59_Asp61del)
c.224_232del (p.Val75_Asp77del)
n.627_635del
c.345_353del
c.*12_*20del (n.*12_*20del)
n.34_42del
n.282_290del
c.161_169del (p.Val54_Asp56del)
c.242_250del (p.Val81_Asp83del)
n.579_587del
n.572_580del
 gnomAD v4
11g.108139001T>ACA382507266ACAT1c.539T>A (p.Val180Glu)
n.634T>A
c.*97T>A (n.*97T>A)
c.269T>A (p.Val90Glu)
c.176T>A (p.Val59Glu)
c.224T>A (p.Val75Glu)
n.627T>A
c.345T>A
c.*12T>A (n.*12T>A)
n.34T>A
n.282T>A
c.161T>A (p.Val54Glu)
c.242T>A (p.Val81Glu)
n.579T>A
n.572T>A
11g.108139001T>CCA382507267ACAT1c.539T>C (p.Val180Ala)
n.634T>C
c.*97T>C (n.*97T>C)
c.269T>C (p.Val90Ala)
c.176T>C (p.Val59Ala)
c.224T>C (p.Val75Ala)
n.627T>C
c.345T>C
c.*12T>C (n.*12T>C)
n.34T>C
n.282T>C
c.161T>C (p.Val54Ala)
c.242T>C (p.Val81Ala)
n.579T>C
n.572T>C
11g.108139001T>GCA382507268ACAT1c.539T>G (p.Val180Gly)
n.634T>G
c.*97T>G (n.*97T>G)
c.269T>G (p.Val90Gly)
c.176T>G (p.Val59Gly)
c.224T>G (p.Val75Gly)
n.627T>G
c.345T>G
c.*12T>G (n.*12T>G)
n.34T>G
n.282T>G
c.161T>G (p.Val54Gly)
c.242T>G (p.Val81Gly)
n.579T>G
n.572T>G
11g.108139002A>CCA476672152ACAT1c.540A>C (p.Val180=)
n.635A>C
c.*98A>C (n.*98A>C)
c.270A>C (p.Val90=)
c.177A>C (p.Val59=)
c.225A>C (p.Val75=)
n.628A>C
c.346A>C
c.*13A>C (n.*13A>C)
n.35A>C
n.283A>C
c.162A>C (p.Val54=)
c.243A>C (p.Val81=)
n.580A>C
n.573A>C
11g.108139002A>GCA476672155ACAT1c.540A>G (p.Val180=)
n.635A>G
c.*98A>G (n.*98A>G)
c.270A>G (p.Val90=)
c.177A>G (p.Val59=)
c.225A>G (p.Val75=)
n.628A>G
c.346A>G
c.*13A>G (n.*13A>G)
n.35A>G
n.283A>G
c.162A>G (p.Val54=)
c.243A>G (p.Val81=)
n.580A>G
n.573A>G
11g.108139002A>TCA476672153ACAT1c.540A>T (p.Val180=)
n.635A>T
c.*98A>T (n.*98A>T)
c.270A>T (p.Val90=)
c.177A>T (p.Val59=)
c.225A>T (p.Val75=)
n.628A>T
c.346A>T
c.*13A>T (n.*13A>T)
n.35A>T
n.283A>T
c.162A>T (p.Val54=)
c.243A>T (p.Val81=)
n.580A>T
n.573A>T
11g.108139004_108139005delCA2580082938ACAT1c.542_543del (p.Lys181ArgfsTer5)
n.637_638del
c.*100_*101del (n.*100_*101del)
c.272_273del (p.Lys91ArgfsTer5)
c.179_180del (p.Lys60ArgfsTer5)
c.227_228del (p.Lys76ArgfsTer5)
n.630_631del
c.348_349del
c.*15_*16del (n.*15_*16del)
n.37_38del
n.285_286del
c.164_165del (p.Lys55ArgfsTer5)
c.245_246del (p.Lys82ArgfsTer5)
n.582_583del
n.575_576del
 ClinVar
11g.108139003A>CCA382507269ACAT1c.541A>C (p.Lys181Gln)
n.636A>C
c.*99A>C (n.*99A>C)
c.271A>C (p.Lys91Gln)
c.178A>C (p.Lys60Gln)
c.226A>C (p.Lys76Gln)
n.629A>C
c.347A>C
c.*14A>C (n.*14A>C)
n.36A>C
n.284A>C
c.163A>C (p.Lys55Gln)
c.244A>C (p.Lys82Gln)
n.581A>C
n.574A>C
11g.108139003A>GCA382507271ACAT1c.541A>G (p.Lys181Glu)
n.636A>G
c.*99A>G (n.*99A>G)
c.271A>G (p.Lys91Glu)
c.178A>G (p.Lys60Glu)
c.226A>G (p.Lys76Glu)
n.629A>G
c.347A>G
c.*14A>G (n.*14A>G)
n.36A>G
n.284A>G
c.163A>G (p.Lys55Glu)
c.244A>G (p.Lys82Glu)
n.581A>G
n.574A>G
11g.108139003A>TCA382507270ACAT1c.541A>T (p.Lys181Ter)
n.636A>T
c.*99A>T (n.*99A>T)
c.271A>T (p.Lys91Ter)
c.178A>T (p.Lys60Ter)
c.226A>T (p.Lys76Ter)
n.629A>T
c.347A>T
c.*14A>T (n.*14A>T)
n.36A>T
n.284A>T
c.163A>T (p.Lys55Ter)
c.244A>T (p.Lys82Ter)
n.581A>T
n.574A>T
11g.108139004A=CA1998717057ACAT1c.542A= (p.Lys181=)
n.637A=
c.*100A= (n.*100A=)
c.272A= (p.Lys91=)
c.179A= (p.Lys60=)
c.227A= (p.Lys76=)
n.630A=
c.348A=
c.*15A= (n.*15A=)
n.37A=
n.285A=
c.164A= (p.Lys55=)
c.245A= (p.Lys82=)
n.582A=
n.575A=
11g.108139004A>CCA382507272ACAT1c.542A>C (p.Lys181Thr)
n.637A>C
c.*100A>C (n.*100A>C)
c.272A>C (p.Lys91Thr)
c.179A>C (p.Lys60Thr)
c.227A>C (p.Lys76Thr)
n.630A>C
c.348A>C
c.*15A>C (n.*15A>C)
n.37A>C
n.285A>C
c.164A>C (p.Lys55Thr)
c.245A>C (p.Lys82Thr)
n.582A>C
n.575A>C
11g.108139004A>GCA382507273ACAT1c.542A>G (p.Lys181Arg)
n.637A>G
c.*100A>G (n.*100A>G)
c.272A>G (p.Lys91Arg)
c.179A>G (p.Lys60Arg)
c.227A>G (p.Lys76Arg)
n.630A>G
c.348A>G
c.*15A>G (n.*15A>G)
n.37A>G
n.285A>G
c.164A>G (p.Lys55Arg)
c.245A>G (p.Lys82Arg)
n.582A>G
n.575A>G
 dbSNP gnomAD v3 gnomAD v4
11g.108139004A>TCA382507274ACAT1c.542A>T (p.Lys181Ile)
n.637A>T
c.*100A>T (n.*100A>T)
c.272A>T (p.Lys91Ile)
c.179A>T (p.Lys60Ile)
c.227A>T (p.Lys76Ile)
n.630A>T
c.348A>T
c.*15A>T (n.*15A>T)
n.37A>T
n.285A>T
c.164A>T (p.Lys55Ile)
c.245A>T (p.Lys82Ile)
n.582A>T
n.575A>T
11g.108139005A=CA1998717058ACAT1c.543A= (p.Lys181=)
n.638A=
c.*101A= (n.*101A=)
c.273A= (p.Lys91=)
c.180A= (p.Lys60=)
c.228A= (p.Lys76=)
n.631A=
c.349A=
c.*16A= (n.*16A=)
n.38A=
n.286A=
c.165A= (p.Lys55=)
c.246A= (p.Lys82=)
n.583A=
n.576A=
11g.108139005A>CCA382507275ACAT1c.543A>C (p.Lys181Asn)
n.638A>C
c.*101A>C (n.*101A>C)
c.273A>C (p.Lys91Asn)
c.180A>C (p.Lys60Asn)
c.228A>C (p.Lys76Asn)
n.631A>C
c.349A>C
c.*16A>C (n.*16A>C)
n.38A>C
n.286A>C
c.165A>C (p.Lys55Asn)
c.246A>C (p.Lys82Asn)
n.583A>C
n.576A>C
11g.108139005A>GCA6263153ACAT1c.543A>G (p.Lys181=)
n.638A>G
c.*101A>G (n.*101A>G)
c.273A>G (p.Lys91=)
c.180A>G (p.Lys60=)
c.228A>G (p.Lys76=)
n.631A>G
c.349A>G
c.*16A>G (n.*16A>G)
n.38A>G
n.286A>G
c.165A>G (p.Lys55=)
c.246A>G (p.Lys82=)
n.583A>G
n.576A>G
 dbSNP ExAC gnomAD v2
11g.108139005A>TCA382507276ACAT1c.543A>T (p.Lys181Asn)
n.638A>T
c.*101A>T (n.*101A>T)
c.273A>T (p.Lys91Asn)
c.180A>T (p.Lys60Asn)
c.228A>T (p.Lys76Asn)
n.631A>T
c.349A>T
c.*16A>T (n.*16A>T)
n.38A>T
n.286A>T
c.165A>T (p.Lys55Asn)
c.246A>T (p.Lys82Asn)
n.583A>T
n.576A>T
11g.108139006G>ACA382507277ACAT1c.544G>A (p.Asp182Asn)
n.639G>A
c.*102G>A (n.*102G>A)
c.274G>A (p.Asp92Asn)
c.181G>A (p.Asp61Asn)
c.229G>A (p.Asp77Asn)
n.632G>A
c.350G>A
c.*17G>A (n.*17G>A)
n.39G>A
n.287G>A
c.166G>A (p.Asp56Asn)
c.247G>A (p.Asp83Asn)
n.584G>A
n.577G>A
11g.108139006G>CCA382507278ACAT1c.544G>C (p.Asp182His)
n.639G>C
c.*102G>C (n.*102G>C)
c.274G>C (p.Asp92His)
c.181G>C (p.Asp61His)
c.229G>C (p.Asp77His)
n.632G>C
c.350G>C
c.*17G>C (n.*17G>C)
n.39G>C
n.287G>C
c.166G>C (p.Asp56His)
c.247G>C (p.Asp83His)
n.584G>C
n.577G>C
11g.108139006G>TCA382507279ACAT1c.544G>T (p.Asp182Tyr)
n.639G>T
c.*102G>T (n.*102G>T)
c.274G>T (p.Asp92Tyr)
c.181G>T (p.Asp61Tyr)
c.229G>T (p.Asp77Tyr)
n.632G>T
c.350G>T
c.*17G>T (n.*17G>T)
n.39G>T
n.287G>T
c.166G>T (p.Asp56Tyr)
c.247G>T (p.Asp83Tyr)
n.584G>T
n.577G>T
 gnomAD v4
11g.108139007A>CCA382507280ACAT1c.545A>C (p.Asp182Ala)
n.640A>C
c.*103A>C (n.*103A>C)
c.275A>C (p.Asp92Ala)
c.182A>C (p.Asp61Ala)
c.230A>C (p.Asp77Ala)
n.633A>C
c.351A>C
c.*18A>C (n.*18A>C)
n.40A>C
n.288A>C
c.167A>C (p.Asp56Ala)
c.248A>C (p.Asp83Ala)
n.585A>C
n.578A>C
11g.108139007A>GCA382507281ACAT1c.545A>G (p.Asp182Gly)
n.640A>G
c.*103A>G (n.*103A>G)
c.275A>G (p.Asp92Gly)
c.182A>G (p.Asp61Gly)
c.230A>G (p.Asp77Gly)
n.633A>G
c.351A>G
c.*18A>G (n.*18A>G)
n.40A>G
n.288A>G
c.167A>G (p.Asp56Gly)
c.248A>G (p.Asp83Gly)
n.585A>G
n.578A>G
11g.108139007A>TCA382507282ACAT1c.545A>T (p.Asp182Val)
n.640A>T
c.*103A>T (n.*103A>T)
c.275A>T (p.Asp92Val)
c.182A>T (p.Asp61Val)
c.230A>T (p.Asp77Val)
n.633A>T
c.351A>T
c.*18A>T (n.*18A>T)
n.40A>T
n.288A>T
c.167A>T (p.Asp56Val)
c.248A>T (p.Asp83Val)
n.585A>T
n.578A>T
11g.108139008C>ACA382507283ACAT1c.546C>A (p.Asp182Glu)
n.641C>A
c.*104C>A (n.*104C>A)
c.276C>A (p.Asp92Glu)
c.183C>A (p.Asp61Glu)
c.231C>A (p.Asp77Glu)
n.634C>A
c.352C>A
c.*19C>A (n.*19C>A)
n.41C>A
n.289C>A
c.168C>A (p.Asp56Glu)
c.249C>A (p.Asp83Glu)
n.586C>A
n.579C>A
 gnomAD v4
11g.108139008C=CA1998717059ACAT1c.546C= (p.Asp182=)
n.641C=
c.*104C= (n.*104C=)
c.276C= (p.Asp92=)
c.183C= (p.Asp61=)
c.231C= (p.Asp77=)
n.634C=
c.352C=
c.*19C= (n.*19C=)
n.41C=
n.289C=
c.168C= (p.Asp56=)
c.249C= (p.Asp83=)
n.586C=
n.579C=
11g.108139008C>GCA382507284ACAT1c.546C>G (p.Asp182Glu)
n.641C>G
c.*104C>G (n.*104C>G)
c.276C>G (p.Asp92Glu)
c.183C>G (p.Asp61Glu)
c.231C>G (p.Asp77Glu)
n.634C>G
c.352C>G
c.*19C>G (n.*19C>G)
n.41C>G
n.289C>G
c.168C>G (p.Asp56Glu)
c.249C>G (p.Asp83Glu)
n.586C>G
n.579C>G
11g.108139008C>TCA6263154ACAT1c.546C>T (p.Asp182=)
n.641C>T
c.*104C>T (n.*104C>T)
c.276C>T (p.Asp92=)
c.183C>T (p.Asp61=)
c.231C>T (p.Asp77=)
n.634C>T
c.352C>T
c.*19C>T (n.*19C>T)
n.41C>T
n.289C>T
c.168C>T (p.Asp56=)
c.249C>T (p.Asp83=)
n.586C>T
n.579C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.108139009G>ACA252462ACAT1c.547G>A (p.Gly183Arg)
n.642G>A
c.*105G>A (n.*105G>A)
c.277G>A (p.Gly93Arg)
c.184G>A (p.Gly62Arg)
c.232G>A (p.Gly78Arg)
n.635G>A
c.353G>A
c.*20G>A (n.*20G>A)
n.42G>A
n.290G>A
c.169G>A (p.Gly57Arg)
c.250G>A (p.Gly84Arg)
n.587G>A
n.580G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.108139009G>CCA382507286ACAT1c.547G>C (p.Gly183Arg)
n.642G>C
c.*105G>C (n.*105G>C)
c.277G>C (p.Gly93Arg)
c.184G>C (p.Gly62Arg)
c.232G>C (p.Gly78Arg)
n.635G>C
c.353G>C
c.*20G>C (n.*20G>C)
n.42G>C
n.290G>C
c.169G>C (p.Gly57Arg)
c.250G>C (p.Gly84Arg)
n.587G>C
n.580G>C
11g.108139009G=CA1998717060ACAT1c.547G= (p.Gly183=)
n.642G=
c.*105G= (n.*105G=)
c.277G= (p.Gly93=)
c.184G= (p.Gly62=)
c.232G= (p.Gly78=)
n.635G=
c.353G=
c.*20G= (n.*20G=)
n.42G=
n.290G=
c.169G= (p.Gly57=)
c.250G= (p.Gly84=)
n.587G=
n.580G=
11g.108139009G>TCA382507285ACAT1c.547G>T (p.Gly183Trp)
n.642G>T
c.*105G>T (n.*105G>T)
c.277G>T (p.Gly93Trp)
c.184G>T (p.Gly62Trp)
c.232G>T (p.Gly78Trp)
n.635G>T
c.353G>T
c.*20G>T (n.*20G>T)
n.42G>T
n.290G>T
c.169G>T (p.Gly57Trp)
c.250G>T (p.Gly84Trp)
n.587G>T
n.580G>T
 gnomAD v4

Number of alleles fetched