| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19357679_19357682dup | CA2695231648 | PDHA1 | c.880_883dup (p.Arg295LeufsTer10) c.*551_*554dup (n.*551_*554dup) c.943_946dup (p.Arg316LeufsTer10) c.973_976dup (p.Arg326LeufsTer10) n.654_657dup c.*191_*194dup (n.*191_*194dup) c.*314_*317dup (n.*314_*317dup) c.859_862dup (p.Arg288LeufsTer10) c.16_19dup (p.Arg7LeufsTer10) n.298_301dup n.287_290dup c.766_769dup (p.Arg257LeufsTer10) c.994_997dup (p.Arg333LeufsTer10) c.901_904dup (p.Arg302LeufsTer10) | |
| X | g.19357682C>A | CA412395199 | PDHA1 | c.883C>A (p.Arg295Ser) c.*554C>A (n.*554C>A) c.946C>A (p.Arg316Ser) c.976C>A (p.Arg326Ser) n.657C>A c.*194C>A (n.*194C>A) c.*317C>A (n.*317C>A) c.862C>A (p.Arg288Ser) c.19C>A (p.Arg7Ser) n.301C>A n.290C>A c.769C>A (p.Arg257Ser) c.997C>A (p.Arg333Ser) c.904C>A (p.Arg302Ser) | |
| X | g.19357682C= | CA2418224615 | PDHA1 | c.883C= (p.Arg295=) c.*554C= (n.*554C=) c.946C= (p.Arg316=) c.976C= (p.Arg326=) n.657C= c.*194C= (n.*194C=) c.*317C= (n.*317C=) c.862C= (p.Arg288=) c.19C= (p.Arg7=) n.301C= n.290C= c.769C= (p.Arg257=) c.997C= (p.Arg333=) c.904C= (p.Arg302=) | |
| X | g.19357682C>G | CA412395200 | PDHA1 | c.883C>G (p.Arg295Gly) c.*554C>G (n.*554C>G) c.946C>G (p.Arg316Gly) c.976C>G (p.Arg326Gly) n.657C>G c.*194C>G (n.*194C>G) c.*317C>G (n.*317C>G) c.862C>G (p.Arg288Gly) c.19C>G (p.Arg7Gly) n.301C>G n.290C>G c.769C>G (p.Arg257Gly) c.997C>G (p.Arg333Gly) c.904C>G (p.Arg302Gly) | |
| X | g.19357682C>T | CA412395201 | PDHA1 | c.883C>T (p.Arg295Cys) c.*554C>T (n.*554C>T) c.946C>T (p.Arg316Cys) c.976C>T (p.Arg326Cys) n.657C>T c.*194C>T (n.*194C>T) c.*317C>T (n.*317C>T) c.862C>T (p.Arg288Cys) c.19C>T (p.Arg7Cys) n.301C>T n.290C>T c.769C>T (p.Arg257Cys) c.997C>T (p.Arg333Cys) c.904C>T (p.Arg302Cys) | ClinVar dbSNP |
| X | g.19357683G>A | CA121226 | PDHA1 | c.884G>A (p.Arg295His) c.*555G>A (n.*555G>A) c.947G>A (p.Arg316His) c.977G>A (p.Arg326His) n.658G>A c.*195G>A (n.*195G>A) c.*318G>A (n.*318G>A) c.863G>A (p.Arg288His) c.20G>A (p.Arg7His) n.302G>A n.291G>A c.770G>A (p.Arg257His) c.998G>A (p.Arg333His) c.905G>A (p.Arg302His) | ClinVar dbSNP gnomAD v4 |
| X | g.19357683G>C | CA412395203 | PDHA1 | c.884G>C (p.Arg295Pro) c.*555G>C (n.*555G>C) c.947G>C (p.Arg316Pro) c.977G>C (p.Arg326Pro) n.658G>C c.*195G>C (n.*195G>C) c.*318G>C (n.*318G>C) c.863G>C (p.Arg288Pro) c.20G>C (p.Arg7Pro) n.302G>C n.291G>C c.770G>C (p.Arg257Pro) c.998G>C (p.Arg333Pro) c.905G>C (p.Arg302Pro) | |
| X | g.19357683G= | CA2418224616 | PDHA1 | c.884G= (p.Arg295=) c.*555G= (n.*555G=) c.947G= (p.Arg316=) c.977G= (p.Arg326=) n.658G= c.*195G= (n.*195G=) c.*318G= (n.*318G=) c.863G= (p.Arg288=) c.20G= (p.Arg7=) n.302G= n.291G= c.770G= (p.Arg257=) c.998G= (p.Arg333=) c.905G= (p.Arg302=) | |
| X | g.19357683G>T | CA412395202 | PDHA1 | c.884G>T (p.Arg295Leu) c.*555G>T (n.*555G>T) c.947G>T (p.Arg316Leu) c.977G>T (p.Arg326Leu) n.658G>T c.*195G>T (n.*195G>T) c.*318G>T (n.*318G>T) c.863G>T (p.Arg288Leu) c.20G>T (p.Arg7Leu) n.302G>T n.291G>T c.770G>T (p.Arg257Leu) c.998G>T (p.Arg333Leu) c.905G>T (p.Arg302Leu) | |
| X | g.19357684T>A | CA515486180 | PDHA1 | c.885T>A (p.Arg295=) c.*556T>A (n.*556T>A) c.948T>A (p.Arg316=) c.978T>A (p.Arg326=) n.659T>A c.*196T>A (n.*196T>A) c.*319T>A (n.*319T>A) c.864T>A (p.Arg288=) c.21T>A (p.Arg7=) n.303T>A n.292T>A c.771T>A (p.Arg257=) c.999T>A (p.Arg333=) c.906T>A (p.Arg302=) | |
| X | g.19357684T>C | CA515486182 | PDHA1 | c.885T>C (p.Arg295=) c.*556T>C (n.*556T>C) c.948T>C (p.Arg316=) c.978T>C (p.Arg326=) n.659T>C c.*196T>C (n.*196T>C) c.*319T>C (n.*319T>C) c.864T>C (p.Arg288=) c.21T>C (p.Arg7=) n.303T>C n.292T>C c.771T>C (p.Arg257=) c.999T>C (p.Arg333=) c.906T>C (p.Arg302=) | |
| X | g.19357684T>G | CA515486183 | PDHA1 | c.885T>G (p.Arg295=) c.*556T>G (n.*556T>G) c.948T>G (p.Arg316=) c.978T>G (p.Arg326=) n.659T>G c.*196T>G (n.*196T>G) c.*319T>G (n.*319T>G) c.864T>G (p.Arg288=) c.21T>G (p.Arg7=) n.303T>G n.292T>G c.771T>G (p.Arg257=) c.999T>G (p.Arg333=) c.906T>G (p.Arg302=) | |
| X | g.19357685T>A | CA412395204 | PDHA1 | c.886T>A (p.Tyr296Asn) c.*557T>A (n.*557T>A) c.949T>A (p.Tyr317Asn) c.979T>A (p.Tyr327Asn) n.660T>A c.*197T>A (n.*197T>A) c.*320T>A (n.*320T>A) c.865T>A (p.Tyr289Asn) c.22T>A (p.Tyr8Asn) n.304T>A n.293T>A c.772T>A (p.Tyr258Asn) c.1000T>A (p.Tyr334Asn) c.907T>A (p.Tyr303Asn) | |
| X | g.19357685T>C | CA412395205 | PDHA1 | c.886T>C (p.Tyr296His) c.*557T>C (n.*557T>C) c.949T>C (p.Tyr317His) c.979T>C (p.Tyr327His) n.660T>C c.*197T>C (n.*197T>C) c.*320T>C (n.*320T>C) c.865T>C (p.Tyr289His) c.22T>C (p.Tyr8His) n.304T>C n.293T>C c.772T>C (p.Tyr258His) c.1000T>C (p.Tyr334His) c.907T>C (p.Tyr303His) | |
| X | g.19357685T>G | CA412395206 | PDHA1 | c.886T>G (p.Tyr296Asp) c.*557T>G (n.*557T>G) c.949T>G (p.Tyr317Asp) c.979T>G (p.Tyr327Asp) n.660T>G c.*197T>G (n.*197T>G) c.*320T>G (n.*320T>G) c.865T>G (p.Tyr289Asp) c.22T>G (p.Tyr8Asp) n.304T>G n.293T>G c.772T>G (p.Tyr258Asp) c.1000T>G (p.Tyr334Asp) c.907T>G (p.Tyr303Asp) | |
| X | g.19357686A>C | CA412395207 | PDHA1 | c.887A>C (p.Tyr296Ser) c.*558A>C (n.*558A>C) c.950A>C (p.Tyr317Ser) c.980A>C (p.Tyr327Ser) n.661A>C c.*198A>C (n.*198A>C) c.*321A>C (n.*321A>C) c.866A>C (p.Tyr289Ser) c.23A>C (p.Tyr8Ser) n.305A>C n.294A>C c.773A>C (p.Tyr258Ser) c.1001A>C (p.Tyr334Ser) c.908A>C (p.Tyr303Ser) | |
| X | g.19357686A>G | CA412395208 | PDHA1 | c.887A>G (p.Tyr296Cys) c.*558A>G (n.*558A>G) c.950A>G (p.Tyr317Cys) c.980A>G (p.Tyr327Cys) n.661A>G c.*198A>G (n.*198A>G) c.*321A>G (n.*321A>G) c.866A>G (p.Tyr289Cys) c.23A>G (p.Tyr8Cys) n.305A>G n.294A>G c.773A>G (p.Tyr258Cys) c.1001A>G (p.Tyr334Cys) c.908A>G (p.Tyr303Cys) | |
| X | g.19357686A>T | CA412395209 | PDHA1 | c.887A>T (p.Tyr296Phe) c.*558A>T (n.*558A>T) c.950A>T (p.Tyr317Phe) c.980A>T (p.Tyr327Phe) n.661A>T c.*198A>T (n.*198A>T) c.*321A>T (n.*321A>T) c.866A>T (p.Tyr289Phe) c.23A>T (p.Tyr8Phe) n.305A>T n.294A>T c.773A>T (p.Tyr258Phe) c.1001A>T (p.Tyr334Phe) c.908A>T (p.Tyr303Phe) | |
| X | g.19357687C>A | CA412395210 | PDHA1 | c.888C>A (p.Tyr296Ter) c.*559C>A (n.*559C>A) c.951C>A (p.Tyr317Ter) c.981C>A (p.Tyr327Ter) n.662C>A c.*199C>A (n.*199C>A) c.*322C>A (n.*322C>A) c.867C>A (p.Tyr289Ter) c.24C>A (p.Tyr8Ter) n.306C>A n.295C>A c.774C>A (p.Tyr258Ter) c.1002C>A (p.Tyr334Ter) c.909C>A (p.Tyr303Ter) | |
| X | g.19357687C= | CA2418224617 | PDHA1 | c.888C= (p.Tyr296=) c.*559C= (n.*559C=) c.951C= (p.Tyr317=) c.981C= (p.Tyr327=) n.662C= c.*199C= (n.*199C=) c.*322C= (n.*322C=) c.867C= (p.Tyr289=) c.24C= (p.Tyr8=) n.306C= n.295C= c.774C= (p.Tyr258=) c.1002C= (p.Tyr334=) c.909C= (p.Tyr303=) | |
| X | g.19357687C>G | CA412395211 | PDHA1 | c.888C>G (p.Tyr296Ter) c.*559C>G (n.*559C>G) c.951C>G (p.Tyr317Ter) c.981C>G (p.Tyr327Ter) n.662C>G c.*199C>G (n.*199C>G) c.*322C>G (n.*322C>G) c.867C>G (p.Tyr289Ter) c.24C>G (p.Tyr8Ter) n.306C>G n.295C>G c.774C>G (p.Tyr258Ter) c.1002C>G (p.Tyr334Ter) c.909C>G (p.Tyr303Ter) | |
| X | g.19357687C>T | CA515486188 | PDHA1 | c.888C>T (p.Tyr296=) c.*559C>T (n.*559C>T) c.951C>T (p.Tyr317=) c.981C>T (p.Tyr327=) n.662C>T c.*199C>T (n.*199C>T) c.*322C>T (n.*322C>T) c.867C>T (p.Tyr289=) c.24C>T (p.Tyr8=) n.306C>T n.295C>T c.774C>T (p.Tyr258=) c.1002C>T (p.Tyr334=) c.909C>T (p.Tyr303=) | ClinVar dbSNP gnomAD v4 |
| X | g.19357688C>A | CA412395212 | PDHA1 | c.889C>A (p.His297Asn) c.*560C>A (n.*560C>A) c.952C>A (p.His318Asn) c.982C>A (p.His328Asn) n.663C>A c.*200C>A (n.*200C>A) c.*323C>A (n.*323C>A) c.868C>A (p.His290Asn) c.25C>A (p.His9Asn) n.307C>A n.296C>A c.775C>A (p.His259Asn) c.1003C>A (p.His335Asn) c.910C>A (p.His304Asn) | |
| X | g.19357688C>G | CA412395213 | PDHA1 | c.889C>G (p.His297Asp) c.*560C>G (n.*560C>G) c.952C>G (p.His318Asp) c.982C>G (p.His328Asp) n.663C>G c.*200C>G (n.*200C>G) c.*323C>G (n.*323C>G) c.868C>G (p.His290Asp) c.25C>G (p.His9Asp) n.307C>G n.296C>G c.775C>G (p.His259Asp) c.1003C>G (p.His335Asp) c.910C>G (p.His304Asp) | |
| X | g.19357688C>T | CA412395214 | PDHA1 | c.889C>T (p.His297Tyr) c.*560C>T (n.*560C>T) c.952C>T (p.His318Tyr) c.982C>T (p.His328Tyr) n.663C>T c.*200C>T (n.*200C>T) c.*323C>T (n.*323C>T) c.868C>T (p.His290Tyr) c.25C>T (p.His9Tyr) n.307C>T n.296C>T c.775C>T (p.His259Tyr) c.1003C>T (p.His335Tyr) c.910C>T (p.His304Tyr) | ClinVar dbSNP |
| X | g.19357689A>C | CA412395215 | PDHA1 | c.890A>C (p.His297Pro) c.*561A>C (n.*561A>C) c.953A>C (p.His318Pro) c.983A>C (p.His328Pro) n.664A>C c.*201A>C (n.*201A>C) c.*324A>C (n.*324A>C) c.869A>C (p.His290Pro) c.26A>C (p.His9Pro) n.308A>C n.297A>C c.776A>C (p.His259Pro) c.1004A>C (p.His335Pro) c.911A>C (p.His304Pro) | |
| X | g.19357689A>G | CA412395216 | PDHA1 | c.890A>G (p.His297Arg) c.*561A>G (n.*561A>G) c.953A>G (p.His318Arg) c.983A>G (p.His328Arg) n.664A>G c.*201A>G (n.*201A>G) c.*324A>G (n.*324A>G) c.869A>G (p.His290Arg) c.26A>G (p.His9Arg) n.308A>G n.297A>G c.776A>G (p.His259Arg) c.1004A>G (p.His335Arg) c.911A>G (p.His304Arg) | |
| X | g.19357689A>T | CA412395217 | PDHA1 | c.890A>T (p.His297Leu) c.*561A>T (n.*561A>T) c.953A>T (p.His318Leu) c.983A>T (p.His328Leu) n.664A>T c.*201A>T (n.*201A>T) c.*324A>T (n.*324A>T) c.869A>T (p.His290Leu) c.26A>T (p.His9Leu) n.308A>T n.297A>T c.776A>T (p.His259Leu) c.1004A>T (p.His335Leu) c.911A>T (p.His304Leu) | |
| X | g.19357690C>A | CA412395218 | PDHA1 | c.891C>A (p.His297Gln) c.*562C>A (n.*562C>A) c.954C>A (p.His318Gln) c.984C>A (p.His328Gln) n.665C>A c.*202C>A (n.*202C>A) c.*325C>A (n.*325C>A) c.870C>A (p.His290Gln) c.27C>A (p.His9Gln) n.309C>A n.298C>A c.777C>A (p.His259Gln) c.1005C>A (p.His335Gln) c.912C>A (p.His304Gln) | |
| X | g.19357690C= | CA2418224618 | PDHA1 | c.891C= (p.His297=) c.*562C= (n.*562C=) c.954C= (p.His318=) c.984C= (p.His328=) n.665C= c.*202C= (n.*202C=) c.*325C= (n.*325C=) c.870C= (p.His290=) c.27C= (p.His9=) n.309C= n.298C= c.777C= (p.His259=) c.1005C= (p.His335=) c.912C= (p.His304=) | |
| X | g.19357690C>G | CA412395219 | PDHA1 | c.891C>G (p.His297Gln) c.*562C>G (n.*562C>G) c.954C>G (p.His318Gln) c.984C>G (p.His328Gln) n.665C>G c.*202C>G (n.*202C>G) c.*325C>G (n.*325C>G) c.870C>G (p.His290Gln) c.27C>G (p.His9Gln) n.309C>G n.298C>G c.777C>G (p.His259Gln) c.1005C>G (p.His335Gln) c.912C>G (p.His304Gln) | |
| X | g.19357690C>T | CA10363140 | PDHA1 | c.891C>T (p.His297=) c.*562C>T (n.*562C>T) c.954C>T (p.His318=) c.984C>T (p.His328=) n.665C>T c.*202C>T (n.*202C>T) c.*325C>T (n.*325C>T) c.870C>T (p.His290=) c.27C>T (p.His9=) n.309C>T n.298C>T c.777C>T (p.His259=) c.1005C>T (p.His335=) c.912C>T (p.His304=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.19357691G>A | CA412395220 | PDHA1 | c.892G>A (p.Gly298Arg) c.*563G>A (n.*563G>A) c.955G>A (p.Gly319Arg) c.985G>A (p.Gly329Arg) n.666G>A c.*203G>A (n.*203G>A) c.*326G>A (n.*326G>A) c.871G>A (p.Gly291Arg) c.28G>A (p.Gly10Arg) n.310G>A n.299G>A c.778G>A (p.Gly260Arg) c.1006G>A (p.Gly336Arg) c.913G>A (p.Gly305Arg) | ClinVar dbSNP |
| X | g.19357691G>C | CA412395221 | PDHA1 | c.892G>C (p.Gly298Arg) c.*563G>C (n.*563G>C) c.955G>C (p.Gly319Arg) c.985G>C (p.Gly329Arg) n.666G>C c.*203G>C (n.*203G>C) c.*326G>C (n.*326G>C) c.871G>C (p.Gly291Arg) c.28G>C (p.Gly10Arg) n.310G>C n.299G>C c.778G>C (p.Gly260Arg) c.1006G>C (p.Gly336Arg) c.913G>C (p.Gly305Arg) | |
| X | g.19357691G>T | CA412395222 | PDHA1 | c.892G>T (p.Gly298Ter) c.*563G>T (n.*563G>T) c.955G>T (p.Gly319Ter) c.985G>T (p.Gly329Ter) n.666G>T c.*203G>T (n.*203G>T) c.*326G>T (n.*326G>T) c.871G>T (p.Gly291Ter) c.28G>T (p.Gly10Ter) n.310G>T n.299G>T c.778G>T (p.Gly260Ter) c.1006G>T (p.Gly336Ter) c.913G>T (p.Gly305Ter) | |
| X | g.19357692G>A | CA412395223 | PDHA1 | c.893G>A (p.Gly298Glu) c.*564G>A (n.*564G>A) c.956G>A (p.Gly319Glu) c.986G>A (p.Gly329Glu) n.667G>A c.*204G>A (n.*204G>A) c.*327G>A (n.*327G>A) c.872G>A (p.Gly291Glu) c.29G>A (p.Gly10Glu) n.311G>A n.300G>A c.779G>A (p.Gly260Glu) c.1007G>A (p.Gly336Glu) c.914G>A (p.Gly305Glu) | |
| X | g.19357692G>C | CA412395224 | PDHA1 | c.893G>C (p.Gly298Ala) c.*564G>C (n.*564G>C) c.956G>C (p.Gly319Ala) c.986G>C (p.Gly329Ala) n.667G>C c.*204G>C (n.*204G>C) c.*327G>C (n.*327G>C) c.872G>C (p.Gly291Ala) c.29G>C (p.Gly10Ala) n.311G>C n.300G>C c.779G>C (p.Gly260Ala) c.1007G>C (p.Gly336Ala) c.914G>C (p.Gly305Ala) | |
| X | g.19357692G>T | CA412395225 | PDHA1 | c.893G>T (p.Gly298Val) c.*564G>T (n.*564G>T) c.956G>T (p.Gly319Val) c.986G>T (p.Gly329Val) n.667G>T c.*204G>T (n.*204G>T) c.*327G>T (n.*327G>T) c.872G>T (p.Gly291Val) c.29G>T (p.Gly10Val) n.311G>T n.300G>T c.779G>T (p.Gly260Val) c.1007G>T (p.Gly336Val) c.914G>T (p.Gly305Val) | |
| X | g.19357693A= | CA2418224619 | PDHA1 | c.894A= (p.Gly298=) c.*565A= (n.*565A=) c.957A= (p.Gly319=) c.987A= (p.Gly329=) n.668A= c.*205A= (n.*205A=) c.*328A= (n.*328A=) c.873A= (p.Gly291=) c.30A= (p.Gly10=) n.312A= n.301A= c.780A= (p.Gly260=) c.1008A= (p.Gly336=) c.915A= (p.Gly305=) | |
| X | g.19357693A>C | CA515486194 | PDHA1 | c.894A>C (p.Gly298=) c.*565A>C (n.*565A>C) c.957A>C (p.Gly319=) c.987A>C (p.Gly329=) n.668A>C c.*205A>C (n.*205A>C) c.*328A>C (n.*328A>C) c.873A>C (p.Gly291=) c.30A>C (p.Gly10=) n.312A>C n.301A>C c.780A>C (p.Gly260=) c.1008A>C (p.Gly336=) c.915A>C (p.Gly305=) | |
| X | g.19357693A>G | CA515486195 | PDHA1 | c.894A>G (p.Gly298=) c.*565A>G (n.*565A>G) c.957A>G (p.Gly319=) c.987A>G (p.Gly329=) n.668A>G c.*205A>G (n.*205A>G) c.*328A>G (n.*328A>G) c.873A>G (p.Gly291=) c.30A>G (p.Gly10=) n.312A>G n.301A>G c.780A>G (p.Gly260=) c.1008A>G (p.Gly336=) c.915A>G (p.Gly305=) | |
| X | g.19357693A>T | CA515486196 | PDHA1 | c.894A>T (p.Gly298=) c.*565A>T (n.*565A>T) c.957A>T (p.Gly319=) c.987A>T (p.Gly329=) n.668A>T c.*205A>T (n.*205A>T) c.*328A>T (n.*328A>T) c.873A>T (p.Gly291=) c.30A>T (p.Gly10=) n.312A>T n.301A>T c.780A>T (p.Gly260=) c.1008A>T (p.Gly336=) c.915A>T (p.Gly305=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.19357694C>A | CA412395226 | PDHA1 | c.895C>A (p.His299Asn) c.*566C>A (n.*566C>A) c.958C>A (p.His320Asn) c.988C>A (p.His330Asn) n.669C>A c.*206C>A (n.*206C>A) c.*329C>A (n.*329C>A) c.874C>A (p.His292Asn) c.31C>A (p.His11Asn) n.313C>A n.302C>A c.781C>A (p.His261Asn) c.1009C>A (p.His337Asn) c.916C>A (p.His306Asn) | |
| X | g.19357694C>G | CA412395227 | PDHA1 | c.895C>G (p.His299Asp) c.*566C>G (n.*566C>G) c.958C>G (p.His320Asp) c.988C>G (p.His330Asp) n.669C>G c.*206C>G (n.*206C>G) c.*329C>G (n.*329C>G) c.874C>G (p.His292Asp) c.31C>G (p.His11Asp) n.313C>G n.302C>G c.781C>G (p.His261Asp) c.1009C>G (p.His337Asp) c.916C>G (p.His306Asp) | |
| X | g.19357694C>T | CA412395228 | PDHA1 | c.895C>T (p.His299Tyr) c.*566C>T (n.*566C>T) c.958C>T (p.His320Tyr) c.988C>T (p.His330Tyr) n.669C>T c.*206C>T (n.*206C>T) c.*329C>T (n.*329C>T) c.874C>T (p.His292Tyr) c.31C>T (p.His11Tyr) n.313C>T n.302C>T c.781C>T (p.His261Tyr) c.1009C>T (p.His337Tyr) c.916C>T (p.His306Tyr) | |
| X | g.19357694_19357701dup | CA916083855 | PDHA1 | c.895_902dup (p.Met301IlefsTer4) c.*566_*573dup (n.*566_*573dup) c.958_965dup (p.Met322IlefsTer4) c.988_995dup (p.Met332IlefsTer4) n.669_676dup c.*206_*213dup (n.*206_*213dup) c.*329_*336dup (n.*329_*336dup) c.874_881dup (p.Met294IlefsTer4) c.31_38dup (p.Met13IlefsTer4) n.313_320dup n.302_309dup c.781_788dup (p.Met263IlefsTer4) c.1009_1016dup (p.Met339IlefsTer4) c.916_923dup (p.Met308IlefsTer4) | ClinVar dbSNP |
| X | g.19357695A>C | CA412395229 | PDHA1 | c.896A>C (p.His299Pro) c.*567A>C (n.*567A>C) c.959A>C (p.His320Pro) c.989A>C (p.His330Pro) n.670A>C c.*207A>C (n.*207A>C) c.*330A>C (n.*330A>C) c.875A>C (p.His292Pro) c.32A>C (p.His11Pro) n.314A>C n.303A>C c.782A>C (p.His261Pro) c.1010A>C (p.His337Pro) c.917A>C (p.His306Pro) | |
| X | g.19357695A>G | CA412395230 | PDHA1 | c.896A>G (p.His299Arg) c.*567A>G (n.*567A>G) c.959A>G (p.His320Arg) c.989A>G (p.His330Arg) n.670A>G c.*207A>G (n.*207A>G) c.*330A>G (n.*330A>G) c.875A>G (p.His292Arg) c.32A>G (p.His11Arg) n.314A>G n.303A>G c.782A>G (p.His261Arg) c.1010A>G (p.His337Arg) c.917A>G (p.His306Arg) | |
| X | g.19357695A>T | CA412395231 | PDHA1 | c.896A>T (p.His299Leu) c.*567A>T (n.*567A>T) c.959A>T (p.His320Leu) c.989A>T (p.His330Leu) n.670A>T c.*207A>T (n.*207A>T) c.*330A>T (n.*330A>T) c.875A>T (p.His292Leu) c.32A>T (p.His11Leu) n.314A>T n.303A>T c.782A>T (p.His261Leu) c.1010A>T (p.His337Leu) c.917A>T (p.His306Leu) | |
| X | g.19357696C>A | CA412395233 | PDHA1 | c.897C>A (p.His299Gln) c.*568C>A (n.*568C>A) c.960C>A (p.His320Gln) c.990C>A (p.His330Gln) n.671C>A c.*208C>A (n.*208C>A) c.*331C>A (n.*331C>A) c.876C>A (p.His292Gln) c.33C>A (p.His11Gln) n.315C>A n.304C>A c.783C>A (p.His261Gln) c.1011C>A (p.His337Gln) c.918C>A (p.His306Gln) | gnomAD v4 |