UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.108141554_108141622delinsCTGAATGACTACTTGTTTTGAGCGATTTTACTTAAAATATTTTTATTTTAGGTCAACCAGATGTAGTGG | CA1998718306 | ACAT1 | c.731-51_748delinsCTGAATGACTACTTGTTTTGAGCGATTTTACTTAAAATATTTTTATTTTAGGTCAACCAGATGTAGTGG n.826-51_843delinsCTGAATGACTACTTGTTTTGAGCGATTTTACTTAAAATATTTTTATTTTAGGTCAACCAGATGTAGTGG c.461-51_478delinsCTGAATGACTACTTGTTTTGAGCGATTTTACTTAAAATATTTTTATTTTAGGTCAACCAGATGTAGTGG c.368-51_385delinsCTGAATGACTACTTGTTTTGAGCGATTTTACTTAAAATATTTTTATTTTAGGTCAACCAGATGTAGTGG c.580-51_*3delinsCTGAATGACTACTTGTTTTGAGCGATTTTACTTAAAATATTTTTATTTTAGGTCAACCAGATGTAGTGG c.416-51_433delinsCTGAATGACTACTTGTTTTGAGCGATTTTACTTAAAATATTTTTATTTTAGGTCAACCAGATGTAGTGG n.819-51_836delinsCTGAATGACTACTTGTTTTGAGCGATTTTACTTAAAATATTTTTATTTTAGGTCAACCAGATGTAGTGG c.*204-51_*221delinsCTGAATGACTACTTGTTTTGAGCGATTTTACTTAAAATATTTTTATTTTAGGTCAACCAGATGTAGTGG n.226-51_243delinsCTGAATGACTACTTGTTTTGAGCGATTTTACTTAAAATATTTTTATTTTAGGTCAACCAGATGTAGTGG n.192-51_209delinsCTGAATGACTACTTGTTTTGAGCGATTTTACTTAAAATATTTTTATTTTAGGTCAACCAGATGTAGTGG c.353-51_370delinsCTGAATGACTACTTGTTTTGAGCGATTTTACTTAAAATATTTTTATTTTAGGTCAACCAGATGTAGTGG c.434-51_451delinsCTGAATGACTACTTGTTTTGAGCGATTTTACTTAAAATATTTTTATTTTAGGTCAACCAGATGTAGTGG n.771-51_788delinsCTGAATGACTACTTGTTTTGAGCGATTTTACTTAAAATATTTTTATTTTAGGTCAACCAGATGTAGTGG n.764-51_781delinsCTGAATGACTACTTGTTTTGAGCGATTTTACTTAAAATATTTTTATTTTAGGTCAACCAGATGTAGTGG | |
| 11 | g.108141559_108141626del | CA915947693 | ACAT1 | c.731-46_752del n.826-46_847del c.461-46_482del c.368-46_389del c.580-46_*7del c.416-46_437del n.819-46_840del c.*204-46_*225del n.226-46_247del n.192-46_213del c.353-46_374del c.434-46_455del n.771-46_792del n.764-46_785del | ClinVar dbSNP gnomAD v4 |
| 11 | g.108141605G>A | CA382507716 | ACAT1 | c.731G>A (p.Gly244Asp) n.826G>A c.*289G>A (n.*289G>A) c.461G>A (p.Gly154Asp) c.368G>A (p.Gly123Asp) c.580G>A (p.Val194Ile) c.416G>A (p.Gly139Asp) n.819G>A c.*204G>A (n.*204G>A) n.226G>A n.192G>A c.353G>A (p.Gly118Asp) c.434G>A (p.Gly145Asp) n.771G>A n.764G>A | |
| 11 | g.108141605G>C | CA382507717 | ACAT1 | c.731G>C (p.Gly244Ala) n.826G>C c.*289G>C (n.*289G>C) c.461G>C (p.Gly154Ala) c.368G>C (p.Gly123Ala) c.580G>C (p.Val194Leu) c.416G>C (p.Gly139Ala) n.819G>C c.*204G>C (n.*204G>C) n.226G>C n.192G>C c.353G>C (p.Gly118Ala) c.434G>C (p.Gly145Ala) n.771G>C n.764G>C | |
| 11 | g.108141605G>T | CA382507718 | ACAT1 | c.731G>T (p.Gly244Val) n.826G>T c.*289G>T (n.*289G>T) c.461G>T (p.Gly154Val) c.368G>T (p.Gly123Val) c.580G>T (p.Val194Phe) c.416G>T (p.Gly139Val) n.819G>T c.*204G>T (n.*204G>T) n.226G>T n.192G>T c.353G>T (p.Gly118Val) c.434G>T (p.Gly145Val) n.771G>T n.764G>T | |
| 11 | g.108141606T>A | CA476663912 | ACAT1 | c.732T>A (p.Gly244=) n.827T>A c.*290T>A (n.*290T>A) c.462T>A (p.Gly154=) c.369T>A (p.Gly123=) c.581T>A (p.Val194Asp) c.417T>A (p.Gly139=) n.820T>A c.*205T>A (n.*205T>A) n.227T>A n.193T>A c.354T>A (p.Gly118=) c.435T>A (p.Gly145=) n.772T>A n.765T>A | ClinVar dbSNP |
| 11 | g.108141606T>C | CA476663913 | ACAT1 | c.732T>C (p.Gly244=) n.827T>C c.*290T>C (n.*290T>C) c.462T>C (p.Gly154=) c.369T>C (p.Gly123=) c.581T>C (p.Val194Ala) c.417T>C (p.Gly139=) n.820T>C c.*205T>C (n.*205T>C) n.227T>C n.193T>C c.354T>C (p.Gly118=) c.435T>C (p.Gly145=) n.772T>C n.765T>C | gnomAD v4 |
| 11 | g.108141606T>G | CA476663911 | ACAT1 | c.732T>G (p.Gly244=) n.827T>G c.*290T>G (n.*290T>G) c.462T>G (p.Gly154=) c.369T>G (p.Gly123=) c.581T>G (p.Val194Gly) c.417T>G (p.Gly139=) n.820T>G c.*205T>G (n.*205T>G) n.227T>G n.193T>G c.354T>G (p.Gly118=) c.435T>G (p.Gly145=) n.772T>G n.765T>G | |
| 11 | g.108141607C>A | CA382507719 | ACAT1 | c.733C>A (p.Gln245Lys) n.828C>A c.*291C>A (n.*291C>A) c.463C>A (p.Gln155Lys) c.370C>A (p.Gln124Lys) c.582C>A (p.Val194=) c.418C>A (p.Gln140Lys) n.821C>A c.*206C>A (n.*206C>A) n.228C>A n.194C>A c.355C>A (p.Gln119Lys) c.436C>A (p.Gln146Lys) n.773C>A n.766C>A | gnomAD v4 |
| 11 | g.108141607C>G | CA382507720 | ACAT1 | c.733C>G (p.Gln245Glu) n.828C>G c.*291C>G (n.*291C>G) c.463C>G (p.Gln155Glu) c.370C>G (p.Gln124Glu) c.582C>G (p.Val194=) c.418C>G (p.Gln140Glu) n.821C>G c.*206C>G (n.*206C>G) n.228C>G n.194C>G c.355C>G (p.Gln119Glu) c.436C>G (p.Gln146Glu) n.773C>G n.766C>G | |
| 11 | g.108141607C>T | CA382507721 | ACAT1 | c.733C>T (p.Gln245Ter) n.828C>T c.*291C>T (n.*291C>T) c.463C>T (p.Gln155Ter) c.370C>T (p.Gln124Ter) c.582C>T (p.Val194=) c.418C>T (p.Gln140Ter) n.821C>T c.*206C>T (n.*206C>T) n.228C>T n.194C>T c.355C>T (p.Gln119Ter) c.436C>T (p.Gln146Ter) n.773C>T n.766C>T | ClinVar dbSNP |
| 11 | g.108141608A>C | CA382507722 | ACAT1 | c.734A>C (p.Gln245Pro) n.829A>C c.*292A>C (n.*292A>C) c.464A>C (p.Gln155Pro) c.371A>C (p.Gln124Pro) c.583A>C (p.Asn195His) c.419A>C (p.Gln140Pro) n.822A>C c.*207A>C (n.*207A>C) n.229A>C n.195A>C c.356A>C (p.Gln119Pro) c.437A>C (p.Gln146Pro) n.774A>C n.767A>C | |
| 11 | g.108141608A>G | CA382507723 | ACAT1 | c.734A>G (p.Gln245Arg) n.829A>G c.*292A>G (n.*292A>G) c.464A>G (p.Gln155Arg) c.371A>G (p.Gln124Arg) c.583A>G (p.Asn195Asp) c.419A>G (p.Gln140Arg) n.822A>G c.*207A>G (n.*207A>G) n.229A>G n.195A>G c.356A>G (p.Gln119Arg) c.437A>G (p.Gln146Arg) n.774A>G n.767A>G | |
| 11 | g.108141608A>T | CA382507724 | ACAT1 | c.734A>T (p.Gln245Leu) n.829A>T c.*292A>T (n.*292A>T) c.464A>T (p.Gln155Leu) c.371A>T (p.Gln124Leu) c.583A>T (p.Asn195Tyr) c.419A>T (p.Gln140Leu) n.822A>T c.*207A>T (n.*207A>T) n.229A>T n.195A>T c.356A>T (p.Gln119Leu) c.437A>T (p.Gln146Leu) n.774A>T n.767A>T | |
| 11 | g.108141609A>C | CA382507725 | ACAT1 | c.735A>C (p.Gln245His) n.830A>C c.*293A>C (n.*293A>C) c.465A>C (p.Gln155His) c.372A>C (p.Gln124His) c.584A>C (p.Asn195Thr) c.420A>C (p.Gln140His) n.823A>C c.*208A>C (n.*208A>C) n.230A>C n.196A>C c.357A>C (p.Gln119His) c.438A>C (p.Gln146His) n.775A>C n.768A>C | |
| 11 | g.108141609A>G | CA476663914 | ACAT1 | c.735A>G (p.Gln245=) n.830A>G c.*293A>G (n.*293A>G) c.465A>G (p.Gln155=) c.372A>G (p.Gln124=) c.584A>G (p.Asn195Ser) c.420A>G (p.Gln140=) n.823A>G c.*208A>G (n.*208A>G) n.230A>G n.196A>G c.357A>G (p.Gln119=) c.438A>G (p.Gln146=) n.775A>G n.768A>G | dbSNP |
| 11 | g.108141609A>T | CA382507726 | ACAT1 | c.735A>T (p.Gln245His) n.830A>T c.*293A>T (n.*293A>T) c.465A>T (p.Gln155His) c.372A>T (p.Gln124His) c.584A>T (p.Asn195Ile) c.420A>T (p.Gln140His) n.823A>T c.*208A>T (n.*208A>T) n.230A>T n.196A>T c.357A>T (p.Gln119His) c.438A>T (p.Gln146His) n.775A>T n.768A>T | |
| 11 | g.108141610C>A | CA382507728 | ACAT1 | c.736C>A (p.Pro246Thr) n.831C>A c.*294C>A (n.*294C>A) c.466C>A (p.Pro156Thr) c.373C>A (p.Pro125Thr) c.585C>A (p.Asn195Lys) c.421C>A (p.Pro141Thr) n.824C>A c.*209C>A (n.*209C>A) n.231C>A n.197C>A c.358C>A (p.Pro120Thr) c.439C>A (p.Pro147Thr) n.776C>A n.769C>A | |
| 11 | g.108141610C>G | CA382507729 | ACAT1 | c.736C>G (p.Pro246Ala) n.831C>G c.*294C>G (n.*294C>G) c.466C>G (p.Pro156Ala) c.373C>G (p.Pro125Ala) c.585C>G (p.Asn195Lys) c.421C>G (p.Pro141Ala) n.824C>G c.*209C>G (n.*209C>G) n.231C>G n.197C>G c.358C>G (p.Pro120Ala) c.439C>G (p.Pro147Ala) n.776C>G n.769C>G | |
| 11 | g.108141610C>T | CA382507727 | ACAT1 | c.736C>T (p.Pro246Ser) n.831C>T c.*294C>T (n.*294C>T) c.466C>T (p.Pro156Ser) c.373C>T (p.Pro125Ser) c.585C>T (p.Asn195=) c.421C>T (p.Pro141Ser) n.824C>T c.*209C>T (n.*209C>T) n.231C>T n.197C>T c.358C>T (p.Pro120Ser) c.439C>T (p.Pro147Ser) n.776C>T n.769C>T | gnomAD v4 |
| 11 | g.108141611C>A | CA382507730 | ACAT1 | c.737C>A (p.Pro246Gln) n.832C>A c.*295C>A (n.*295C>A) c.467C>A (p.Pro156Gln) c.374C>A (p.Pro125Gln) c.586C>A (p.Gln196Lys) c.422C>A (p.Pro141Gln) n.825C>A c.*210C>A (n.*210C>A) n.232C>A n.198C>A c.359C>A (p.Pro120Gln) c.440C>A (p.Pro147Gln) n.777C>A n.770C>A | |
| 11 | g.108141611C>G | CA382507731 | ACAT1 | c.737C>G (p.Pro246Arg) n.832C>G c.*295C>G (n.*295C>G) c.467C>G (p.Pro156Arg) c.374C>G (p.Pro125Arg) c.586C>G (p.Gln196Glu) c.422C>G (p.Pro141Arg) n.825C>G c.*210C>G (n.*210C>G) n.232C>G n.198C>G c.359C>G (p.Pro120Arg) c.440C>G (p.Pro147Arg) n.777C>G n.770C>G | gnomAD v4 |
| 11 | g.108141611C>T | CA382507732 | ACAT1 | c.737C>T (p.Pro246Leu) n.832C>T c.*295C>T (n.*295C>T) c.467C>T (p.Pro156Leu) c.374C>T (p.Pro125Leu) c.586C>T (p.Gln196Ter) c.422C>T (p.Pro141Leu) n.825C>T c.*210C>T (n.*210C>T) n.232C>T n.198C>T c.359C>T (p.Pro120Leu) c.440C>T (p.Pro147Leu) n.777C>T n.770C>T | |
| 11 | g.108141612A>C | CA476663915 | ACAT1 | c.738A>C (p.Pro246=) n.833A>C c.*296A>C (n.*296A>C) c.468A>C (p.Pro156=) c.375A>C (p.Pro125=) c.587A>C (p.Gln196Pro) c.423A>C (p.Pro141=) n.826A>C c.*211A>C (n.*211A>C) n.233A>C n.199A>C c.360A>C (p.Pro120=) c.441A>C (p.Pro147=) n.778A>C n.771A>C | |
| 11 | g.108141612A>G | CA476663917 | ACAT1 | c.738A>G (p.Pro246=) n.833A>G c.*296A>G (n.*296A>G) c.468A>G (p.Pro156=) c.375A>G (p.Pro125=) c.587A>G (p.Gln196Arg) c.423A>G (p.Pro141=) n.826A>G c.*211A>G (n.*211A>G) n.233A>G n.199A>G c.360A>G (p.Pro120=) c.441A>G (p.Pro147=) n.778A>G n.771A>G | ClinVar dbSNP |
| 11 | g.108141612A>T | CA476663916 | ACAT1 | c.738A>T (p.Pro246=) n.833A>T c.*296A>T (n.*296A>T) c.468A>T (p.Pro156=) c.375A>T (p.Pro125=) c.587A>T (p.Gln196Leu) c.423A>T (p.Pro141=) n.826A>T c.*211A>T (n.*211A>T) n.233A>T n.199A>T c.360A>T (p.Pro120=) c.441A>T (p.Pro147=) n.778A>T n.771A>T | |
| 11 | g.108141613G>A | CA382507733 | ACAT1 | c.739G>A (p.Asp247Asn) n.834G>A c.469G>A (p.Asp157Asn) c.376G>A (p.Asp126Asn) c.588G>A (p.Gln196=) c.424G>A (p.Asp142Asn) n.827G>A c.*212G>A (n.*212G>A) n.234G>A n.200G>A c.361G>A (p.Asp121Asn) c.442G>A (p.Asp148Asn) n.779G>A n.772G>A | |
| 11 | g.108141613G>C | CA382507734 | ACAT1 | c.739G>C (p.Asp247His) n.834G>C c.469G>C (p.Asp157His) c.376G>C (p.Asp126His) c.588G>C (p.Gln196His) c.424G>C (p.Asp142His) n.827G>C c.*212G>C (n.*212G>C) n.234G>C n.200G>C c.361G>C (p.Asp121His) c.442G>C (p.Asp148His) n.779G>C n.772G>C | gnomAD v4 |
| 11 | g.108141613G>T | CA382507735 | ACAT1 | c.739G>T (p.Asp247Tyr) n.834G>T c.469G>T (p.Asp157Tyr) c.376G>T (p.Asp126Tyr) c.588G>T (p.Gln196His) c.424G>T (p.Asp142Tyr) n.827G>T c.*212G>T (n.*212G>T) n.234G>T n.200G>T c.361G>T (p.Asp121Tyr) c.442G>T (p.Asp148Tyr) n.779G>T n.772G>T | |
| 11 | g.108141614A>C | CA382507736 | ACAT1 | c.740A>C (p.Asp247Ala) n.835A>C c.470A>C (p.Asp157Ala) c.377A>C (p.Asp126Ala) c.589A>C (p.Met197Leu) c.425A>C (p.Asp142Ala) n.828A>C c.*213A>C (n.*213A>C) n.235A>C n.201A>C c.362A>C (p.Asp121Ala) c.443A>C (p.Asp148Ala) n.780A>C n.773A>C | |
| 11 | g.108141614A>G | CA382507738 | ACAT1 | c.740A>G (p.Asp247Gly) n.835A>G c.470A>G (p.Asp157Gly) c.377A>G (p.Asp126Gly) c.589A>G (p.Met197Val) c.425A>G (p.Asp142Gly) n.828A>G c.*213A>G (n.*213A>G) n.235A>G n.201A>G c.362A>G (p.Asp121Gly) c.443A>G (p.Asp148Gly) n.780A>G n.773A>G | |
| 11 | g.108141614A>T | CA382507737 | ACAT1 | c.740A>T (p.Asp247Val) n.835A>T c.470A>T (p.Asp157Val) c.377A>T (p.Asp126Val) c.589A>T (p.Met197Leu) c.425A>T (p.Asp142Val) n.828A>T c.*213A>T (n.*213A>T) n.235A>T n.201A>T c.362A>T (p.Asp121Val) c.443A>T (p.Asp148Val) n.780A>T n.773A>T | |
| 11 | g.108141615T>A | CA382507739 | ACAT1 | c.741T>A (p.Asp247Glu) n.836T>A c.471T>A (p.Asp157Glu) c.378T>A (p.Asp126Glu) c.590T>A (p.Met197Lys) c.426T>A (p.Asp142Glu) n.829T>A c.*214T>A (n.*214T>A) n.236T>A n.202T>A c.363T>A (p.Asp121Glu) c.444T>A (p.Asp148Glu) n.781T>A n.774T>A | COSMIC |
| 11 | g.108141615T>C | CA476663918 | ACAT1 | c.741T>C (p.Asp247=) n.836T>C c.471T>C (p.Asp157=) c.378T>C (p.Asp126=) c.590T>C (p.Met197Thr) c.426T>C (p.Asp142=) n.829T>C c.*214T>C (n.*214T>C) n.236T>C n.202T>C c.363T>C (p.Asp121=) c.444T>C (p.Asp148=) n.781T>C n.774T>C | |
| 11 | g.108141615T>G | CA382507740 | ACAT1 | c.741T>G (p.Asp247Glu) n.836T>G c.471T>G (p.Asp157Glu) c.378T>G (p.Asp126Glu) c.590T>G (p.Met197Arg) c.426T>G (p.Asp142Glu) n.829T>G c.*214T>G (n.*214T>G) n.236T>G n.202T>G c.363T>G (p.Asp121Glu) c.444T>G (p.Asp148Glu) n.781T>G n.774T>G | |
| 11 | g.108141616G>A | CA228356391 | ACAT1 | c.742G>A (p.Val248Ile) n.837G>A c.472G>A (p.Val158Ile) c.379G>A (p.Val127Ile) c.591G>A (p.Met197Ile) c.427G>A (p.Val143Ile) n.830G>A c.*215G>A (n.*215G>A) n.237G>A n.203G>A c.364G>A (p.Val122Ile) c.445G>A (p.Val149Ile) n.782G>A n.775G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.108141616G>C | CA382507741 | ACAT1 | c.742G>C (p.Val248Leu) n.837G>C c.472G>C (p.Val158Leu) c.379G>C (p.Val127Leu) c.591G>C (p.Met197Ile) c.427G>C (p.Val143Leu) n.830G>C c.*215G>C (n.*215G>C) n.237G>C n.203G>C c.364G>C (p.Val122Leu) c.445G>C (p.Val149Leu) n.782G>C n.775G>C | |
| 11 | g.108141616G= | CA1998718324 | ACAT1 | c.742G= (p.Val248=) n.837G= c.472G= (p.Val158=) c.379G= (p.Val127=) c.591G= (p.Met197=) c.427G= (p.Val143=) n.830G= c.*215G= (n.*215G=) n.237G= n.203G= c.364G= (p.Val122=) c.445G= (p.Val149=) n.782G= n.775G= | |
| 11 | g.108141616G>T | CA382507742 | ACAT1 | c.742G>T (p.Val248Leu) n.837G>T c.472G>T (p.Val158Leu) c.379G>T (p.Val127Leu) c.591G>T (p.Met197Ile) c.427G>T (p.Val143Leu) n.830G>T c.*215G>T (n.*215G>T) n.237G>T n.203G>T c.364G>T (p.Val122Leu) c.445G>T (p.Val149Leu) n.782G>T n.775G>T | |
| 11 | g.108141618_108141620del | CA2580083518 | ACAT1 | c.744_746del (p.Val249del) n.839_841del c.474_476del (p.Val159del) c.381_383del (p.Val128del) c.593_*1del (n.[c.593_*1del;Ter198TrpextTer2]) c.429_431del (p.Val144del) n.832_834del c.*217_*219del (n.*217_*219del) n.239_241del n.205_207del c.366_368del (p.Val123del) c.447_449del (p.Val150del) n.784_786del n.777_779del | ClinVar |
| 11 | g.108141617T>A | CA382507744 | ACAT1 | c.743T>A (p.Val248Glu) n.838T>A c.473T>A (p.Val158Glu) c.380T>A (p.Val127Glu) c.592T>A (p.Ter198Lys) c.428T>A (p.Val143Glu) n.831T>A c.*216T>A (n.*216T>A) n.238T>A n.204T>A c.365T>A (p.Val122Glu) c.446T>A (p.Val149Glu) n.783T>A n.776T>A | |
| 11 | g.108141617T>C | CA382507745 | ACAT1 | c.743T>C (p.Val248Ala) n.838T>C c.473T>C (p.Val158Ala) c.380T>C (p.Val127Ala) c.592T>C (p.Ter198Gln) c.428T>C (p.Val143Ala) n.831T>C c.*216T>C (n.*216T>C) n.238T>C n.204T>C c.365T>C (p.Val122Ala) c.446T>C (p.Val149Ala) n.783T>C n.776T>C | |
| 11 | g.108141617T>G | CA382507743 | ACAT1 | c.743T>G (p.Val248Gly) n.838T>G c.473T>G (p.Val158Gly) c.380T>G (p.Val127Gly) c.592T>G (p.Ter198Glu) c.428T>G (p.Val143Gly) n.831T>G c.*216T>G (n.*216T>G) n.238T>G n.204T>G c.365T>G (p.Val122Gly) c.446T>G (p.Val149Gly) n.783T>G n.776T>G | |
| 11 | g.108141618A>C | CA476663919 | ACAT1 | c.744A>C (p.Val248=) n.839A>C c.474A>C (p.Val158=) c.381A>C (p.Val127=) c.593A>C (p.Ter198Ser) c.429A>C (p.Val143=) n.832A>C c.*217A>C (n.*217A>C) n.239A>C n.205A>C c.366A>C (p.Val122=) c.447A>C (p.Val149=) n.784A>C n.777A>C | |
| 11 | g.108141618A>G | CA476663920 | ACAT1 | c.744A>G (p.Val248=) n.839A>G c.474A>G (p.Val158=) c.381A>G (p.Val127=) c.593A>G (p.Ter198Trp) c.429A>G (p.Val143=) n.832A>G c.*217A>G (n.*217A>G) n.239A>G n.205A>G c.366A>G (p.Val122=) c.447A>G (p.Val149=) n.784A>G n.777A>G | |
| 11 | g.108141618A>T | CA476663921 | ACAT1 | c.744A>T (p.Val248=) n.839A>T c.474A>T (p.Val158=) c.381A>T (p.Val127=) c.593A>T (p.Ter198Leu) c.429A>T (p.Val143=) n.832A>T c.*217A>T (n.*217A>T) n.239A>T n.205A>T c.366A>T (p.Val122=) c.447A>T (p.Val149=) n.784A>T n.777A>T | |
| 11 | g.108141619G>A | CA382507746 | ACAT1 | c.745G>A (p.Val249Met) n.840G>A c.475G>A (p.Val159Met) c.382G>A (p.Val128Met) c.594G>A (p.Ter198=) c.430G>A (p.Val144Met) n.833G>A c.*218G>A (n.*218G>A) n.240G>A n.206G>A c.367G>A (p.Val123Met) c.448G>A (p.Val150Met) n.785G>A n.778G>A | |
| 11 | g.108141619G>C | CA382507747 | ACAT1 | c.745G>C (p.Val249Leu) n.840G>C c.475G>C (p.Val159Leu) c.382G>C (p.Val128Leu) c.594G>C (p.Ter198Tyr) c.430G>C (p.Val144Leu) n.833G>C c.*218G>C (n.*218G>C) n.240G>C n.206G>C c.367G>C (p.Val123Leu) c.448G>C (p.Val150Leu) n.785G>C n.778G>C | |
| 11 | g.108141619G>T | CA382507748 | ACAT1 | c.745G>T (p.Val249Leu) n.840G>T c.475G>T (p.Val159Leu) c.382G>T (p.Val128Leu) c.594G>T (p.Ter198Tyr) c.430G>T (p.Val144Leu) n.833G>T c.*218G>T (n.*218G>T) n.240G>T n.206G>T c.367G>T (p.Val123Leu) c.448G>T (p.Val150Leu) n.785G>T n.778G>T | |
| 11 | g.108141620T>A | CA382507749 | ACAT1 | c.746T>A (p.Val249Glu) n.841T>A c.476T>A (p.Val159Glu) c.383T>A (p.Val128Glu) c.*1T>A (n.*1T>A) c.431T>A (p.Val144Glu) n.834T>A c.*219T>A (n.*219T>A) n.241T>A n.207T>A c.368T>A (p.Val123Glu) c.449T>A (p.Val150Glu) n.786T>A n.779T>A |