WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19358904_19358952dup | CA2739268099 | PDHA1 | c.921-12_957dup c.*592-12_*628dup c.984-12_1020dup c.1014-12_1050dup n.695-12_731dup c.*232-12_*268dup c.*355-12_*391dup c.900-12_936dup c.57-12_93dup n.339-12_375dup n.328-12_364dup c.807-12_843dup c.1035-12_1071dup c.942-12_978dup | ClinVar |
| X | g.19358913_19358933dup | CA121211 | PDHA1 | c.921-3_938dup c.*592-3_*609dup c.984-3_1001dup c.1014-3_1031dup n.695-3_712dup c.*232-3_*249dup c.*355-3_*372dup c.900-3_917dup c.57-3_74dup n.339-3_356dup n.328-3_345dup c.807-3_824dup c.1035-3_1052dup c.942-3_959dup | ClinVar dbSNP |
| X | g.19358925A>C | CA515486283 | PDHA1 | c.930A>C (p.Thr310=) c.*601A>C (n.*601A>C) c.993A>C (p.Thr331=) c.1023A>C (p.Thr341=) n.704A>C c.*241A>C (n.*241A>C) c.*364A>C (n.*364A>C) c.909A>C (p.Thr303=) c.66A>C (p.Thr22=) n.348A>C n.337A>C c.816A>C (p.Thr272=) c.1044A>C (p.Thr348=) c.951A>C (p.Thr317=) | |
| X | g.19358925A>G | CA515486281 | PDHA1 | c.930A>G (p.Thr310=) c.*601A>G (n.*601A>G) c.993A>G (p.Thr331=) c.1023A>G (p.Thr341=) n.704A>G c.*241A>G (n.*241A>G) c.*364A>G (n.*364A>G) c.909A>G (p.Thr303=) c.66A>G (p.Thr22=) n.348A>G n.337A>G c.816A>G (p.Thr272=) c.1044A>G (p.Thr348=) c.951A>G (p.Thr317=) | gnomAD v4 |
| X | g.19358925A>T | CA515486280 | PDHA1 | c.930A>T (p.Thr310=) c.*601A>T (n.*601A>T) c.993A>T (p.Thr331=) c.1023A>T (p.Thr341=) n.704A>T c.*241A>T (n.*241A>T) c.*364A>T (n.*364A>T) c.909A>T (p.Thr303=) c.66A>T (p.Thr22=) n.348A>T n.337A>T c.816A>T (p.Thr272=) c.1044A>T (p.Thr348=) c.951A>T (p.Thr317=) | |
| X | g.19358926C>A | CA515486284 | PDHA1 | c.931C>A (p.Arg311=) c.*602C>A (n.*602C>A) c.994C>A (p.Arg332=) c.1024C>A (p.Arg342=) n.705C>A c.*242C>A (n.*242C>A) c.*365C>A (n.*365C>A) c.910C>A (p.Arg304=) c.67C>A (p.Arg23=) n.349C>A n.338C>A c.817C>A (p.Arg273=) c.1045C>A (p.Arg349=) c.952C>A (p.Arg318=) | gnomAD v4 |
| X | g.19358926C= | CA2418225221 | PDHA1 | c.931C= (p.Arg311=) c.*602C= (n.*602C=) c.994C= (p.Arg332=) c.1024C= (p.Arg342=) n.705C= c.*242C= (n.*242C=) c.*365C= (n.*365C=) c.910C= (p.Arg304=) c.67C= (p.Arg23=) n.349C= n.338C= c.817C= (p.Arg273=) c.1045C= (p.Arg349=) c.952C= (p.Arg318=) | |
| X | g.19358926C>G | CA412396052 | PDHA1 | c.931C>G (p.Arg311Gly) c.*602C>G (n.*602C>G) c.994C>G (p.Arg332Gly) c.1024C>G (p.Arg342Gly) n.705C>G c.*242C>G (n.*242C>G) c.*365C>G (n.*365C>G) c.910C>G (p.Arg304Gly) c.67C>G (p.Arg23Gly) n.349C>G n.338C>G c.817C>G (p.Arg273Gly) c.1045C>G (p.Arg349Gly) c.952C>G (p.Arg318Gly) | |
| X | g.19358926C>T | CA321113 | PDHA1 | c.931C>T (p.Arg311Ter) c.*602C>T (n.*602C>T) c.994C>T (p.Arg332Ter) c.1024C>T (p.Arg342Ter) n.705C>T c.*242C>T (n.*242C>T) c.*365C>T (n.*365C>T) c.910C>T (p.Arg304Ter) c.67C>T (p.Arg23Ter) n.349C>T n.338C>T c.817C>T (p.Arg273Ter) c.1045C>T (p.Arg349Ter) c.952C>T (p.Arg318Ter) | ClinVar dbSNP gnomAD v4 |
| X | g.19358927G>A | CA10363164 | PDHA1 | c.932G>A (p.Arg311Gln) c.*603G>A (n.*603G>A) c.995G>A (p.Arg332Gln) c.1025G>A (p.Arg342Gln) n.706G>A c.*243G>A (n.*243G>A) c.*366G>A (n.*366G>A) c.911G>A (p.Arg304Gln) c.68G>A (p.Arg23Gln) n.350G>A n.339G>A c.818G>A (p.Arg273Gln) c.1046G>A (p.Arg349Gln) c.953G>A (p.Arg318Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.19358927G>C | CA412396057 | PDHA1 | c.932G>C (p.Arg311Pro) c.*603G>C (n.*603G>C) c.995G>C (p.Arg332Pro) c.1025G>C (p.Arg342Pro) n.706G>C c.*243G>C (n.*243G>C) c.*366G>C (n.*366G>C) c.911G>C (p.Arg304Pro) c.68G>C (p.Arg23Pro) n.350G>C n.339G>C c.818G>C (p.Arg273Pro) c.1046G>C (p.Arg349Pro) c.953G>C (p.Arg318Pro) | |
| X | g.19358927G= | CA2418225222 | PDHA1 | c.932G= (p.Arg311=) c.*603G= (n.*603G=) c.995G= (p.Arg332=) c.1025G= (p.Arg342=) n.706G= c.*243G= (n.*243G=) c.*366G= (n.*366G=) c.911G= (p.Arg304=) c.68G= (p.Arg23=) n.350G= n.339G= c.818G= (p.Arg273=) c.1046G= (p.Arg349=) c.953G= (p.Arg318=) | |
| X | g.19358927G>T | CA412396059 | PDHA1 | c.932G>T (p.Arg311Leu) c.*603G>T (n.*603G>T) c.995G>T (p.Arg332Leu) c.1025G>T (p.Arg342Leu) n.706G>T c.*243G>T (n.*243G>T) c.*366G>T (n.*366G>T) c.911G>T (p.Arg304Leu) c.68G>T (p.Arg23Leu) n.350G>T n.339G>T c.818G>T (p.Arg273Leu) c.1046G>T (p.Arg349Leu) c.953G>T (p.Arg318Leu) | |
| X | g.19358928A= | CA2418225223 | PDHA1 | c.933A= (p.Arg311=) c.*604A= (n.*604A=) c.996A= (p.Arg332=) c.1026A= (p.Arg342=) n.707A= c.*244A= (n.*244A=) c.*367A= (n.*367A=) c.912A= (p.Arg304=) c.69A= (p.Arg23=) n.351A= n.340A= c.819A= (p.Arg273=) c.1047A= (p.Arg349=) c.954A= (p.Arg318=) | |
| X | g.19358928A>C | CA10363165 | PDHA1 | c.933A>C (p.Arg311=) c.*604A>C (n.*604A>C) c.996A>C (p.Arg332=) c.1026A>C (p.Arg342=) n.707A>C c.*244A>C (n.*244A>C) c.*367A>C (n.*367A>C) c.912A>C (p.Arg304=) c.69A>C (p.Arg23=) n.351A>C n.340A>C c.819A>C (p.Arg273=) c.1047A>C (p.Arg349=) c.954A>C (p.Arg318=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.19358928A>G | CA515486286 | PDHA1 | c.933A>G (p.Arg311=) c.*604A>G (n.*604A>G) c.996A>G (p.Arg332=) c.1026A>G (p.Arg342=) n.707A>G c.*244A>G (n.*244A>G) c.*367A>G (n.*367A>G) c.912A>G (p.Arg304=) c.69A>G (p.Arg23=) n.351A>G n.340A>G c.819A>G (p.Arg273=) c.1047A>G (p.Arg349=) c.954A>G (p.Arg318=) | gnomAD v4 |
| X | g.19358928A>T | CA515486287 | PDHA1 | c.933A>T (p.Arg311=) c.*604A>T (n.*604A>T) c.996A>T (p.Arg332=) c.1026A>T (p.Arg342=) n.707A>T c.*244A>T (n.*244A>T) c.*367A>T (n.*367A>T) c.912A>T (p.Arg304=) c.69A>T (p.Arg23=) n.351A>T n.340A>T c.819A>T (p.Arg273=) c.1047A>T (p.Arg349=) c.954A>T (p.Arg318=) | |
| X | g.19358929G>A | CA412396065 | PDHA1 | c.934G>A (p.Glu312Lys) c.*605G>A (n.*605G>A) c.997G>A (p.Glu333Lys) c.1027G>A (p.Glu343Lys) n.708G>A c.*245G>A (n.*245G>A) c.*368G>A (n.*368G>A) c.913G>A (p.Glu305Lys) c.70G>A (p.Glu24Lys) n.352G>A n.341G>A c.820G>A (p.Glu274Lys) c.1048G>A (p.Glu350Lys) c.955G>A (p.Glu319Lys) | |
| X | g.19358929G>C | CA412396067 | PDHA1 | c.934G>C (p.Glu312Gln) c.*605G>C (n.*605G>C) c.997G>C (p.Glu333Gln) c.1027G>C (p.Glu343Gln) n.708G>C c.*245G>C (n.*245G>C) c.*368G>C (n.*368G>C) c.913G>C (p.Glu305Gln) c.70G>C (p.Glu24Gln) n.352G>C n.341G>C c.820G>C (p.Glu274Gln) c.1048G>C (p.Glu350Gln) c.955G>C (p.Glu319Gln) | |
| X | g.19358929G>T | CA412396069 | PDHA1 | c.934G>T (p.Glu312Ter) c.*605G>T (n.*605G>T) c.997G>T (p.Glu333Ter) c.1027G>T (p.Glu343Ter) n.708G>T c.*245G>T (n.*245G>T) c.*368G>T (n.*368G>T) c.913G>T (p.Glu305Ter) c.70G>T (p.Glu24Ter) n.352G>T n.341G>T c.820G>T (p.Glu274Ter) c.1048G>T (p.Glu350Ter) c.955G>T (p.Glu319Ter) | |
| X | g.19358930A>C | CA412396076 | PDHA1 | c.935A>C (p.Glu312Ala) c.*606A>C (n.*606A>C) c.998A>C (p.Glu333Ala) c.1028A>C (p.Glu343Ala) n.709A>C c.*246A>C (n.*246A>C) c.*369A>C (n.*369A>C) c.914A>C (p.Glu305Ala) c.71A>C (p.Glu24Ala) n.353A>C n.342A>C c.821A>C (p.Glu274Ala) c.1049A>C (p.Glu350Ala) c.956A>C (p.Glu319Ala) | |
| X | g.19358930A>G | CA412396075 | PDHA1 | c.935A>G (p.Glu312Gly) c.*606A>G (n.*606A>G) c.998A>G (p.Glu333Gly) c.1028A>G (p.Glu343Gly) n.709A>G c.*246A>G (n.*246A>G) c.*369A>G (n.*369A>G) c.914A>G (p.Glu305Gly) c.71A>G (p.Glu24Gly) n.353A>G n.342A>G c.821A>G (p.Glu274Gly) c.1049A>G (p.Glu350Gly) c.956A>G (p.Glu319Gly) | gnomAD v4 |
| X | g.19358930A>T | CA412396073 | PDHA1 | c.935A>T (p.Glu312Val) c.*606A>T (n.*606A>T) c.998A>T (p.Glu333Val) c.1028A>T (p.Glu343Val) n.709A>T c.*246A>T (n.*246A>T) c.*369A>T (n.*369A>T) c.914A>T (p.Glu305Val) c.71A>T (p.Glu24Val) n.353A>T n.342A>T c.821A>T (p.Glu274Val) c.1049A>T (p.Glu350Val) c.956A>T (p.Glu319Val) | |
| X | g.19358931A>C | CA412396079 | PDHA1 | c.936A>C (p.Glu312Asp) c.*607A>C (n.*607A>C) c.999A>C (p.Glu333Asp) c.1029A>C (p.Glu343Asp) n.710A>C c.*247A>C (n.*247A>C) c.*370A>C (n.*370A>C) c.915A>C (p.Glu305Asp) c.72A>C (p.Glu24Asp) n.354A>C n.343A>C c.822A>C (p.Glu274Asp) c.1050A>C (p.Glu350Asp) c.957A>C (p.Glu319Asp) | |
| X | g.19358931A>G | CA515486288 | PDHA1 | c.936A>G (p.Glu312=) c.*607A>G (n.*607A>G) c.999A>G (p.Glu333=) c.1029A>G (p.Glu343=) n.710A>G c.*247A>G (n.*247A>G) c.*370A>G (n.*370A>G) c.915A>G (p.Glu305=) c.72A>G (p.Glu24=) n.354A>G n.343A>G c.822A>G (p.Glu274=) c.1050A>G (p.Glu350=) c.957A>G (p.Glu319=) | gnomAD v4 |
| X | g.19358931A>T | CA412396081 | PDHA1 | c.936A>T (p.Glu312Asp) c.*607A>T (n.*607A>T) c.999A>T (p.Glu333Asp) c.1029A>T (p.Glu343Asp) n.710A>T c.*247A>T (n.*247A>T) c.*370A>T (n.*370A>T) c.915A>T (p.Glu305Asp) c.72A>T (p.Glu24Asp) n.354A>T n.343A>T c.822A>T (p.Glu274Asp) c.1050A>T (p.Glu350Asp) c.957A>T (p.Glu319Asp) | |
| X | g.19358932G>A | CA412396084 | PDHA1 | c.937G>A (p.Glu313Lys) c.*608G>A (n.*608G>A) c.1000G>A (p.Glu334Lys) c.1030G>A (p.Glu344Lys) n.711G>A c.*248G>A (n.*248G>A) c.*371G>A (n.*371G>A) c.916G>A (p.Glu306Lys) c.73G>A (p.Glu25Lys) n.355G>A n.344G>A c.823G>A (p.Glu275Lys) c.1051G>A (p.Glu351Lys) c.958G>A (p.Glu320Lys) | |
| X | g.19358932G>C | CA412396086 | PDHA1 | c.937G>C (p.Glu313Gln) c.*608G>C (n.*608G>C) c.1000G>C (p.Glu334Gln) c.1030G>C (p.Glu344Gln) n.711G>C c.*248G>C (n.*248G>C) c.*371G>C (n.*371G>C) c.916G>C (p.Glu306Gln) c.73G>C (p.Glu25Gln) n.355G>C n.344G>C c.823G>C (p.Glu275Gln) c.1051G>C (p.Glu351Gln) c.958G>C (p.Glu320Gln) | |
| X | g.19358932G= | CA2418225224 | PDHA1 | c.937G= (p.Glu313=) c.*608G= (n.*608G=) c.1000G= (p.Glu334=) c.1030G= (p.Glu344=) n.711G= c.*248G= (n.*248G=) c.*371G= (n.*371G=) c.916G= (p.Glu306=) c.73G= (p.Glu25=) n.355G= n.344G= c.823G= (p.Glu275=) c.1051G= (p.Glu351=) c.958G= (p.Glu320=) | |
| X | g.19358932G>T | CA412396088 | PDHA1 | c.937G>T (p.Glu313Ter) c.*608G>T (n.*608G>T) c.1000G>T (p.Glu334Ter) c.1030G>T (p.Glu344Ter) n.711G>T c.*248G>T (n.*248G>T) c.*371G>T (n.*371G>T) c.916G>T (p.Glu306Ter) c.73G>T (p.Glu25Ter) n.355G>T n.344G>T c.823G>T (p.Glu275Ter) c.1051G>T (p.Glu351Ter) c.958G>T (p.Glu320Ter) | COSMIC COSMIC |
| X | g.19358933A>C | CA412396090 | PDHA1 | c.938A>C (p.Glu313Ala) c.*609A>C (n.*609A>C) c.1001A>C (p.Glu334Ala) c.1031A>C (p.Glu344Ala) n.712A>C c.*249A>C (n.*249A>C) c.*372A>C (n.*372A>C) c.917A>C (p.Glu306Ala) c.74A>C (p.Glu25Ala) n.356A>C n.345A>C c.824A>C (p.Glu275Ala) c.1052A>C (p.Glu351Ala) c.959A>C (p.Glu320Ala) | |
| X | g.19358933A>G | CA412396091 | PDHA1 | c.938A>G (p.Glu313Gly) c.*609A>G (n.*609A>G) c.1001A>G (p.Glu334Gly) c.1031A>G (p.Glu344Gly) n.712A>G c.*249A>G (n.*249A>G) c.*372A>G (n.*372A>G) c.917A>G (p.Glu306Gly) c.74A>G (p.Glu25Gly) n.356A>G n.345A>G c.824A>G (p.Glu275Gly) c.1052A>G (p.Glu351Gly) c.959A>G (p.Glu320Gly) | |
| X | g.19358933A>T | CA412396092 | PDHA1 | c.938A>T (p.Glu313Val) c.*609A>T (n.*609A>T) c.1001A>T (p.Glu334Val) c.1031A>T (p.Glu344Val) n.712A>T c.*249A>T (n.*249A>T) c.*372A>T (n.*372A>T) c.917A>T (p.Glu306Val) c.74A>T (p.Glu25Val) n.356A>T n.345A>T c.824A>T (p.Glu275Val) c.1052A>T (p.Glu351Val) c.959A>T (p.Glu320Val) | |
| X | g.19358934_19358943dup | CA1139667326 | PDHA1 | c.939_948dup (p.Val317AsnfsTer7) c.*610_*619dup (n.*610_*619dup) c.1002_1011dup (p.Val338AsnfsTer7) c.1032_1041dup (p.Val348AsnfsTer7) n.713_722dup c.*250_*259dup (n.*250_*259dup) c.*373_*382dup (n.*373_*382dup) c.918_927dup (p.Val310AsnfsTer7) c.75_84dup (p.Val29AsnfsTer7) n.357_366dup n.346_355dup c.825_834dup (p.Val279AsnfsTer7) c.1053_1062dup (p.Val355AsnfsTer7) c.960_969dup (p.Val324AsnfsTer7) | ClinVar dbSNP |
| X | g.19358934A>C | CA412396093 | PDHA1 | c.939A>C (p.Glu313Asp) c.*610A>C (n.*610A>C) c.1002A>C (p.Glu334Asp) c.1032A>C (p.Glu344Asp) n.713A>C c.*250A>C (n.*250A>C) c.*373A>C (n.*373A>C) c.918A>C (p.Glu306Asp) c.75A>C (p.Glu25Asp) n.357A>C n.346A>C c.825A>C (p.Glu275Asp) c.1053A>C (p.Glu351Asp) c.960A>C (p.Glu320Asp) | |
| X | g.19358934A>G | CA515486292 | PDHA1 | c.939A>G (p.Glu313=) c.*610A>G (n.*610A>G) c.1002A>G (p.Glu334=) c.1032A>G (p.Glu344=) n.713A>G c.*250A>G (n.*250A>G) c.*373A>G (n.*373A>G) c.918A>G (p.Glu306=) c.75A>G (p.Glu25=) n.357A>G n.346A>G c.825A>G (p.Glu275=) c.1053A>G (p.Glu351=) c.960A>G (p.Glu320=) | gnomAD v4 |
| X | g.19358934A>T | CA412396094 | PDHA1 | c.939A>T (p.Glu313Asp) c.*610A>T (n.*610A>T) c.1002A>T (p.Glu334Asp) c.1032A>T (p.Glu344Asp) n.713A>T c.*250A>T (n.*250A>T) c.*373A>T (n.*373A>T) c.918A>T (p.Glu306Asp) c.75A>T (p.Glu25Asp) n.357A>T n.346A>T c.825A>T (p.Glu275Asp) c.1053A>T (p.Glu351Asp) c.960A>T (p.Glu320Asp) | |
| X | g.19358935A>C | CA412396095 | PDHA1 | c.940A>C (p.Ile314Leu) c.*611A>C (n.*611A>C) c.1003A>C (p.Ile335Leu) c.1033A>C (p.Ile345Leu) n.714A>C c.*251A>C (n.*251A>C) c.*374A>C (n.*374A>C) c.919A>C (p.Ile307Leu) c.76A>C (p.Ile26Leu) n.358A>C n.347A>C c.826A>C (p.Ile276Leu) c.1054A>C (p.Ile352Leu) c.961A>C (p.Ile321Leu) | |
| X | g.19358935A>G | CA412396096 | PDHA1 | c.940A>G (p.Ile314Val) c.*611A>G (n.*611A>G) c.1003A>G (p.Ile335Val) c.1033A>G (p.Ile345Val) n.714A>G c.*251A>G (n.*251A>G) c.*374A>G (n.*374A>G) c.919A>G (p.Ile307Val) c.76A>G (p.Ile26Val) n.358A>G n.347A>G c.826A>G (p.Ile276Val) c.1054A>G (p.Ile352Val) c.961A>G (p.Ile321Val) | |
| X | g.19358935A>T | CA412396097 | PDHA1 | c.940A>T (p.Ile314Phe) c.*611A>T (n.*611A>T) c.1003A>T (p.Ile335Phe) c.1033A>T (p.Ile345Phe) n.714A>T c.*251A>T (n.*251A>T) c.*374A>T (n.*374A>T) c.919A>T (p.Ile307Phe) c.76A>T (p.Ile26Phe) n.358A>T n.347A>T c.826A>T (p.Ile276Phe) c.1054A>T (p.Ile352Phe) c.961A>T (p.Ile321Phe) | |
| X | g.19358936T>A | CA412396099 | PDHA1 | c.941T>A (p.Ile314Asn) c.*612T>A (n.*612T>A) c.1004T>A (p.Ile335Asn) c.1034T>A (p.Ile345Asn) n.715T>A c.*252T>A (n.*252T>A) c.*375T>A (n.*375T>A) c.920T>A (p.Ile307Asn) c.77T>A (p.Ile26Asn) n.359T>A n.348T>A c.827T>A (p.Ile276Asn) c.1055T>A (p.Ile352Asn) c.962T>A (p.Ile321Asn) | |
| X | g.19358936T>C | CA412396100 | PDHA1 | c.941T>C (p.Ile314Thr) c.*612T>C (n.*612T>C) c.1004T>C (p.Ile335Thr) c.1034T>C (p.Ile345Thr) n.715T>C c.*252T>C (n.*252T>C) c.*375T>C (n.*375T>C) c.920T>C (p.Ile307Thr) c.77T>C (p.Ile26Thr) n.359T>C n.348T>C c.827T>C (p.Ile276Thr) c.1055T>C (p.Ile352Thr) c.962T>C (p.Ile321Thr) | gnomAD v4 |
| X | g.19358936T>G | CA412396098 | PDHA1 | c.941T>G (p.Ile314Ser) c.*612T>G (n.*612T>G) c.1004T>G (p.Ile335Ser) c.1034T>G (p.Ile345Ser) n.715T>G c.*252T>G (n.*252T>G) c.*375T>G (n.*375T>G) c.920T>G (p.Ile307Ser) c.77T>G (p.Ile26Ser) n.359T>G n.348T>G c.827T>G (p.Ile276Ser) c.1055T>G (p.Ile352Ser) c.962T>G (p.Ile321Ser) | |
| X | g.19358936T= | CA2418225225 | PDHA1 | c.941T= (p.Ile314=) c.*612T= (n.*612T=) c.1004T= (p.Ile335=) c.1034T= (p.Ile345=) n.715T= c.*252T= (n.*252T=) c.*375T= (n.*375T=) c.920T= (p.Ile307=) c.77T= (p.Ile26=) n.359T= n.348T= c.827T= (p.Ile276=) c.1055T= (p.Ile352=) c.962T= (p.Ile321=) | |
| X | g.19358937_19358952dup | CA2695231652 | PDHA1 | c.942_957dup (p.Lys320SerfsTer6) c.*613_*628dup (n.*613_*628dup) c.1005_1020dup (p.Lys341SerfsTer6) c.1035_1050dup (p.Lys351SerfsTer6) n.716_731dup c.*253_*268dup (n.*253_*268dup) c.*376_*391dup (n.*376_*391dup) c.921_936dup (p.Lys313SerfsTer6) c.78_93dup (p.Lys32SerfsTer6) n.360_375dup n.349_364dup c.828_843dup (p.Lys282SerfsTer6) c.1056_1071dup (p.Lys358SerfsTer6) c.963_978dup (p.Lys327SerfsTer6) | |
| X | g.19358937T>A | CA515486296 | PDHA1 | c.942T>A (p.Ile314=) c.*613T>A (n.*613T>A) c.1005T>A (p.Ile335=) c.1035T>A (p.Ile345=) n.716T>A c.*253T>A (n.*253T>A) c.*376T>A (n.*376T>A) c.921T>A (p.Ile307=) c.78T>A (p.Ile26=) n.360T>A n.349T>A c.828T>A (p.Ile276=) c.1056T>A (p.Ile352=) c.963T>A (p.Ile321=) | |
| X | g.19358937T>C | CA515486297 | PDHA1 | c.942T>C (p.Ile314=) c.*613T>C (n.*613T>C) c.1005T>C (p.Ile335=) c.1035T>C (p.Ile345=) n.716T>C c.*253T>C (n.*253T>C) c.*376T>C (n.*376T>C) c.921T>C (p.Ile307=) c.78T>C (p.Ile26=) n.360T>C n.349T>C c.828T>C (p.Ile276=) c.1056T>C (p.Ile352=) c.963T>C (p.Ile321=) | gnomAD v4 |
| X | g.19358937T>G | CA412396101 | PDHA1 | c.942T>G (p.Ile314Met) c.*613T>G (n.*613T>G) c.1005T>G (p.Ile335Met) c.1035T>G (p.Ile345Met) n.716T>G c.*253T>G (n.*253T>G) c.*376T>G (n.*376T>G) c.921T>G (p.Ile307Met) c.78T>G (p.Ile26Met) n.360T>G n.349T>G c.828T>G (p.Ile276Met) c.1056T>G (p.Ile352Met) c.963T>G (p.Ile321Met) | |
| X | g.19358937_19358948dup | CA16043300 | PDHA1 | c.942_953dup (p.Val317_Arg318insSerGlnGluVal) c.*613_*624dup (n.*613_*624dup) c.1005_1016dup (p.Val338_Arg339insSerGlnGluVal) c.1035_1046dup (p.Val348_Arg349insSerGlnGluVal) n.716_727dup c.*253_*264dup (n.*253_*264dup) c.*376_*387dup (n.*376_*387dup) c.921_932dup (p.Val310_Arg311insSerGlnGluVal) c.78_89dup (p.Val29_Arg30insSerGlnGluVal) n.360_371dup n.349_360dup c.828_839dup (p.Val279_Arg280insSerGlnGluVal) c.1056_1067dup (p.Val355_Arg356insSerGlnGluVal) c.963_974dup (p.Val324_Arg325insSerGlnGluVal) | ClinVar dbSNP |
| X | g.19358938C>A | CA412396102 | PDHA1 | c.943C>A (p.Gln315Lys) c.*614C>A (n.*614C>A) c.1006C>A (p.Gln336Lys) c.1036C>A (p.Gln346Lys) n.717C>A c.*254C>A (n.*254C>A) c.*377C>A (n.*377C>A) c.922C>A (p.Gln308Lys) c.79C>A (p.Gln27Lys) n.361C>A n.350C>A c.829C>A (p.Gln277Lys) c.1057C>A (p.Gln353Lys) c.964C>A (p.Gln322Lys) | gnomAD v4 |