ASpdb: an integrative knowledgebase of human protein isoforms from experimental and AI-predicted structures

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	Protein Summary
	AS Summary
	Protein Functional Features
	Gene Isoform Structures and Expression Levels
	Protein Structures
	pLDDT Score Distribution
	Ramachandran Plot of Protein Structures
	Potential Active Site Information
	Protein Structure and Feature Comparision
	Protein-Protein Interaction
	Related Drugs
	Related Diseases
	Clinically Important Variants

Protein:ALDH5A1

Protein Summary

Gene summary

Gene name: ALDH5A1
ASpdb.0 ID: 7915
	Gene
Gene symbol	ALDH5A1
Gene ID	7915
Gene name	aldehyde dehydrogenase 5 family member A1
Synonyms	SSADH\|SSDH
Cytomap	6p22.3
Type of gene	protein-coding
Description	succinate-semialdehyde dehydrogenase, mitochondrialNAD(+)-dependent succinic semialdehyde dehydrogenasemitochondrial succinate semialdehyde dehydrogenase
Modification date	20240305
UniProtAcc	P51649

Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Gene	ALDH5A1	GO:0004777	succinate-semialdehyde dehydrogenase (NAD+) activity	9683595\|16199352
Gene	ALDH5A1	GO:0005739	mitochondrion	-
Gene	ALDH5A1	GO:0009450	gamma-aminobutyric acid catabolic process	9683595

AS Summary

Information of the canonical protein with experimentally identified structure from PDB (2023).

UniProt Acc	File name	PDB ID	Method	Resolution	Chain	Start	End
P51649-1	P51649-1_2w8p_A.pdb	2W8P	X-ray	2.3	A	51	535

ASpdb's canonical and alternatively spliced isoform information.

accession_id

gene_name

canonical_id

alternative_id

canonical_length

alternative_length

canonical_start

canonical_end

type

originalSEQ

variationSEQ

alternative_start

alternative_end

P51649

ALDH5A1

P51649-1

P51649-2

535

548

242

Substitution

EVNQGFLLDLDPLL

242

255

Multiple sequence alignment of our canonical and alternatively spliced ALDH5A1

Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of ALDH5A1

UniProt-id	ENSG	ENST	ENSP
P51649-1	ENSG00000112294.14	ENST00000357578.8	ENSP00000350191.3
P51649-2	ENSG00000112294.14	ENST00000348925.2	ENSP00000314649.3

UniProt-id	NM ID	NP ID
P51649-1	NM_001080.3	NP_001071.1
P51649-2	NM_170740.1	NP_733936.1

Amino acid sequences of our canonical and alternatively spliced ALDH5A1

accession_id	Protein sequence
P51649-1	MATCIWLRSCGARRLGSTFPGCRLRPRAGGLVPASGPAPGPAQLRCYAGRLAGLSAALLRTDSFVGGRWLPAAATFPVQDPASGAALGMV ADCGVREARAAVRAAYEAFCRWREVSAKERSSLLRKWYNLMIQNKDDLARIITAESGKPLKEAHGEILYSAFFLEWFSEEARRVYGDIIH TPAKDRRALVLKQPIGVAAVITPWNFPSAMITRKVGAALAAGCTVVVKPAEDTPFSALALAELASQAGIPSGVYNVIPCSRKNAKEVGEA ICTDPLVSKISFTGSTTTGKILLHHAANSVKRVSMELGGLAPFIVFDSANVDQAVAGAMASKFRNTGQTCVCSNQFLVQRGIHDAFVKAF AEAMKKNLRVGNGFEEGTTQGPLINEKAVEKVEKQVNDAVSKGATVVTGGKRHQLGKNFFEPTLLCNVTQDMLCTHEETFGPLAPVIKFD
P51649-2	MATCIWLRSCGARRLGSTFPGCRLRPRAGGLVPASGPAPGPAQLRCYAGRLAGLSAALLRTDSFVGGRWLPAAATFPVQDPASGAALGMV ADCGVREARAAVRAAYEAFCRWREVSAKERSSLLRKWYNLMIQNKDDLARIITAESGKPLKEAHGEILYSAFFLEWFSEEARRVYGDIIH TPAKDRRALVLKQPIGVAAVITPWNFPSAMITRKVGAALAAGCTVVVKPAEDTPFSALALAEVNQGFLLDLDPLLLASQAGIPSGVYNVI PCSRKNAKEVGEAICTDPLVSKISFTGSTTTGKILLHHAANSVKRVSMELGGLAPFIVFDSANVDQAVAGAMASKFRNTGQTCVCSNQFL VQRGIHDAFVKAFAEAMKKNLRVGNGFEEGTTQGPLINEKAVEKVEKQVNDAVSKGATVVTGGKRHQLGKNFFEPTLLCNVTQDMLCTHE ETFGPLAPVIKFDTEEEAIAIANAADVGLAGYFYSQDPAQIWRVAEQLEVGMVGVNEGLISSVECPFGGVKQSGLGREGSKYGIDEYLEL

Protein Functional Features

Main function of this protein. (from UniProt)

ALDH5A1 (go to UniProt):P51649

Retention analysis result of protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at
download page
* Minus value of BPloci means that the break pointn is located before the CDS.

- Retained protein feature among the 13 regional features.

Accession_id

Subsection

Start

End

Funcitonal feature

Splicing information

Gene Isoform Structures and Expression Levels for ALDH5A1

Gene structures of our canonical and alternative spliced genes of ALDH5A1
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Expression levels of gene isoforms across GTEx.

Expression levels of gene isoforms across TCGA.

Protein Structures

PDB and CIF files of the predicted protein structures
* Here we show the 3D structure of the proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.

3D view using mol* of P51649-1

3D view using mol* of P51649-2

pLDDT Score Distribution

pLDDT score distribution of the predicted protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

pLDDT distribution across the protein length of P51649-1

pLDDT distribution across the protein length of P51649-2

Ramachandran Plot of Protein Structures

Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this protein peptide.

Ramachandran plot of P51649-1

Ramachandran plot of P51649-2

Potential Active Site Information

The potential binding sites of these proteins were identified using SiteMap, a module of the Schrodinger suite.

UniProt-id	Site score	Size	D score	Volume	Exposure	Enclosure	Contact	Phobic	Philic	Balance	Don/Acc	Residues
P51649-1	1.027	122	1.088	335.111	0.661	0.656	0.856	0.856	0.754	1.136	0.907	148,149,150,151,152,155,156,159,206,210,213,329,33 0,333,334,335,336,339,341,367,368,373,374,375,376, 377,378,379,380,469,496,497,498,504
P51649-2	1.051	102	1.099	344.029	0.648	0.711	0.941	1.012	0.822	1.231	0.79	149,150,151,152,155,156,159,206,210,213,342,343,34 6,347,352,353,354,380,381,386,387,388,389,390,391, 392,393,509,510,511,517

Protein Structure and Feature Comparision

Protein Structure Comparision Using Template Modeling Scores (TM-score).

Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Canonical validated structure (PDB)(green)

3D view using mol* of P51649-1_P51649-1_2w8p_A.pdb

Protein Structure Comparision Visualization with mol*. between Canonical validated structure (PDB)(orange) vs Alternative predicted structure (AF2)(green)

3D view using mol* of P51649-1_2w8p_A_P51649-2.pdb

Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Alternative predicted structure (AF2)(green)

3D view using mol* of P51649-1_P51649-2.pdb

Protein Feature Comparison of the protein sequendary structures among the protiens.

./stats/secondary_structure/figure/P51649-1_vs_P51649-2.png

Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens.

./stats/relative_asa/P51649-1_vs_P51649-2.png

Protein-Protein Interaction

Interactors from UniProt.

Accession_id

Subsection

Start

End

Funcitonal feature

Splicing information

Interactors from STRING.

Gene name

Interactors

Related Drugs to ALDH5A1

Drugs targeting this gene/protein.
(DrugBank)

UniProt accession	Gene name	DrugBank ID	Drug name	Drug group	Actions
P51649	ALDH5A1	DB00313	Valproic acid	approved, investigational	inhibitor
P51649	ALDH5A1	DB00534	Chlormerodrin	approved, withdrawn	inhibitor
P51649	ALDH5A1	DB00157	NADH	approved, nutraceutical
P51649	ALDH5A1	DB00139	Succinic acid	approved, nutraceutical	inhibitor

Related Diseases to ALDH5A1

Previous studies relating to the alternative splicing of ALDH5A1 and disease information from the MeSH term (PubMed)

Gene

PMID

Title

Abstract

MeSH ID

MeSH term

Clinically important variants in ALDH5A1

(ClinVar, 04/20/2024)

accession_id	uniprot_id	gene_name	Type	Variant	Clinical_significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Trp204Ter	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Trp204Ter	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg412Ter	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg412Ter	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly409Asp	Pathogenic/Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly409Asp	Pathogenic/Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.His180Tyr	Benign
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.His180Tyr	Benign
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro182Leu	Benign
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro182Leu	Benign
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ter536Tyr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ter536Tyr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala237Ser	Benign/Likely benign
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala237Ser	Benign/Likely benign
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly268Glu	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly268Glu	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asp474Ala	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asp474Ala	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala296Thr	Benign
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala296Thr	Benign
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val321Met	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val321Met	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr202Ile	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr202Ile	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ser17Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ser17Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly36Arg	Benign
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly36Arg	Benign
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val400Ile	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val400Ile	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asp450Asn	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asp450Asn	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala52Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala52Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Cys4Gly	Benign/Likely benign
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Cys4Gly	Benign/Likely benign
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala98Gly	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala98Gly	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg172His	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg172His	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val197Met	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val197Met	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala361Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala361Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala459Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala459Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu44Val	Benign/Likely benign
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu44Val	Benign/Likely benign
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly309Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly309Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg125Trp	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg125Trp	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val370Ile	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val370Ile	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu70Ile	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu70Ile	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val492Ile	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val492Ile	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly176Arg	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly176Arg	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr439Ile	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr439Ile	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ter536Gln	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ter536Gln	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu189Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu189Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala217Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala217Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly533Arg	Pathogenic/Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly533Arg	Pathogenic/Likely pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Val102_Ala105del	Uncertain significance
P51649	P51649-1	ALDH5A1	Deletion	p.Val102_Ala105del	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Cys93Phe	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Cys93Phe	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Cys223Tyr	Pathogenic/Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Cys223Tyr	Pathogenic/Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asp450His	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asp450His	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ile5Val	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ile5Val	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Trp6Cys	Benign/Likely benign
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Trp6Cys	Benign/Likely benign
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.His154Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.His154Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asn427Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asn427Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly21Asp	Likely benign
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly21Asp	Likely benign
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ile195Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ile195Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala388Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala388Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala404Gly	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala404Gly	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly511Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly511Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ser63Ile	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ser63Ile	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala38Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala38Val	Uncertain significance
P51649	P51649-1	ALDH5A1	Deletion	p.Asp274fs	Pathogenic/Likely pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Asp274fs	Pathogenic/Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ile178Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ile178Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Lys262Asn	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Lys262Asn	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg480Lys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg480Lys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ser510Phe	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ser510Phe	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly84Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly84Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	Deletion	p.Val102_Ala105del	Uncertain significance
P51649	P51649-1	ALDH5A1	Deletion	p.Val102_Ala105del	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu494Lys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu494Lys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala108Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala108Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu266Asp	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu266Asp	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro39Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro39Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg68Cys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg68Cys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly155Glu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly155Glu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr181Ile	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr181Ile	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Cys340Trp	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Cys340Trp	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asn493Ser	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asn493Ser	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu512Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu512Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	Deletion	p.Ser35_Gln43delinsTer	Pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Ser35_Gln43delinsTer	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Cys426Tyr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Cys426Tyr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Tyr471Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Tyr471Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Phe419Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Phe419Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly520Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly520Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Met432Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Met432Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.His436Gln	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.His436Gln	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg514Gln	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg514Gln	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val226Met	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val226Met	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Phe374Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Phe374Val	Uncertain significance
P51649	P51649-1	ALDH5A1	Duplication	p.Pro442fs	Pathogenic/Likely pathogenic
P51649	P51649-1	ALDH5A1	Duplication	p.Pro442fs	Pathogenic/Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly11Glu	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly11Glu	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Cys10Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Cys10Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly29Asp	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly29Asp	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly40Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly40Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Cys46Tyr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Cys46Tyr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu97Asp	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu97Asp	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Tyr106Cys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Tyr106Cys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Phe109Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Phe109Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg113Lys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg113Lys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asp137Glu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asp137Glu	Uncertain significance
P51649	P51649-1	ALDH5A1	Insertion	p.Val190fs	Pathogenic
P51649	P51649-1	ALDH5A1	Insertion	p.Val190fs	Pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Ser208fs	Pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Ser208fs	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr288Ala	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr288Ala	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Met329Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Met329Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu415Ile	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu415Ile	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asp450Glu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asp450Glu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu452Gln	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu452Gln	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala459Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala459Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ter536Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ter536Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	Deletion	p.Cys272fs	Likely pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Cys272fs	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gln349Ter	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gln349Ter	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu59Pro	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu59Pro	Uncertain significance
P51649	P51649-1	ALDH5A1	Deletion	p.Trp166fs	Likely pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Trp166fs	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu7Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu7Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu15Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu15Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg27Gly	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg27Gly	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly29Ala	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly29Ala	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly30Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly30Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg45Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg45Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly67Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly67Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val102Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val102Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Lys126Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Lys126Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg187Gln	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg187Gln	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala218Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala218Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ser245Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ser245Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asn255Ser	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asn255Ser	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg261Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg261Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asn320Asp	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asn320Asp	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala361Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala361Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu390Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu390Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val396Met	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val396Met	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asn397Lys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asn397Lys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg412Gln	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg412Gln	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr429Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr429Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Phe440Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Phe440Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	Microsatellite	p.Glu454del	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	Microsatellite	p.Glu454del	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala461Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala461Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	Duplication	p.Lys508fs	Pathogenic
P51649	P51649-1	ALDH5A1	Duplication	p.Lys508fs	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala38Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala38Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val102Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val102Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg173His	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg173His	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ile179Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ile179Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala237Thr	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala237Thr	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg261Gln	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg261Gln	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Phe316Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Phe316Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu362Lys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu362Lys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu486Gln	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu486Gln	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro39Ala	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro39Ala	Uncertain significance
P51649	P51649-1	ALDH5A1	Insertion	p.Arg103fs	Pathogenic
P51649	P51649-1	ALDH5A1	Insertion	p.Arg103fs	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu107Gln	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu107Gln	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr181Ala	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr181Ala	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr287Ala	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr287Ala	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val464Ala	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val464Ala	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro37Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro37Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu59Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu59Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly94Trp	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly94Trp	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Trp112Ter	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Trp112Ter	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gln133Ter	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gln133Ter	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu231Lys	Pathogenic/Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu231Lys	Pathogenic/Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.His294Pro	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.His294Pro	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asp398His	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asp398His	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly505Asp	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly505Asp	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu527Pro	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu527Pro	Uncertain significance
P51649	P51649-1	ALDH5A1	Microsatellite	p.Gln43fs	Pathogenic
P51649	P51649-1	ALDH5A1	Microsatellite	p.Gln43fs	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu240Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu240Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val267Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val267Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr283Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr283Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly351Cys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly351Cys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val406Ile	Likely benign
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val406Ile	Likely benign
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu433Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu433Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala52Glu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala52Glu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg369Cys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg369Cys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro37Ala	Likely benign
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro37Ala	Likely benign
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg27His	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg27His	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val78Met	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val78Met	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala86Pro	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala86Pro	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg172Cys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg172Cys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val226Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val226Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Lys265Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Lys265Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asn320Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asn320Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ser55Phe	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ser55Phe	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu97Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu97Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala324Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala324Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro442Ser	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro442Ser	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala28Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala28Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Met89Ile	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Met89Ile	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg125Gln	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg125Gln	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala161Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala161Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ile178Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ile178Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly488Cys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly488Cys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg13Trp	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg13Trp	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro20Ala	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro20Ala	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val102Met	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val102Met	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala188Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala188Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro442Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro442Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val446Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val446Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val530Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val530Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Cys531Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Cys531Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	Duplication	p.Ala12fs	Pathogenic
P51649	P51649-1	ALDH5A1	Duplication	p.Ala12fs	Pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Cys93fs	Pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Cys93fs	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Tyr106Ter	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Tyr106Ter	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ser285Ter	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ser285Ter	Pathogenic
P51649	P51649-1	ALDH5A1	Microsatellite	p.Ser299fs	Pathogenic
P51649	P51649-1	ALDH5A1	Microsatellite	p.Ser299fs	Pathogenic
P51649	P51649-1	ALDH5A1	Duplication	p.Gln323fs	Pathogenic
P51649	P51649-1	ALDH5A1	Duplication	p.Gln323fs	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg514Ter	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg514Ter	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg8Trp	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg8Trp	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Trp166Arg	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Trp166Arg	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	Deletion	p.Ser168fs	Pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Ser168fs	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg172Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg172Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asp522Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asp522Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly16Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly16Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ile521Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ile521Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	Deletion	p.Gly222fs	Likely pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Gly222fs	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala188Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala188Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro203Leu	Pathogenic/Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro203Leu	Pathogenic/Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg173Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg173Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr233Ala	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr233Ala	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Trp166Cys	not provided
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Trp166Cys	not provided
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly30Cys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly30Cys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.His154Tyr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.His154Tyr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu119Lys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu119Lys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ser299Tyr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ser299Tyr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Lys265Glu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Lys265Glu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Trp69Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Trp69Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu231Gly	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu231Gly	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asn372Asp	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asn372Asp	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val492Ala	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val492Ala	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Phe282Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Phe282Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Lys118Ter	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Lys118Ter	Pathogenic
P51649	P51649-1	ALDH5A1	Duplication	p.Leu24_Arg25dup	Uncertain significance
P51649	P51649-1	ALDH5A1	Duplication	p.Leu24_Arg25dup	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asn418His	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asn418His	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly308Asp	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly308Asp	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Phe360Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Phe360Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr224Asn	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr224Asn	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ile195Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ile195Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu70Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu70Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Cys531Tyr	Pathogenic/Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Cys531Tyr	Pathogenic/Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly84Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly84Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu437Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu437Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg99Pro	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg99Pro	Uncertain significance
P51649	P51649-1	ALDH5A1	Deletion	p.Ala221fs	Pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Ala221fs	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg27Cys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg27Cys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Tyr254His	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Tyr254His	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Tyr254Cys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Tyr254Cys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro41Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro41Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala199Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala199Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asn255His	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asn255His	Uncertain significance
P51649	P51649-1	ALDH5A1	Insertion	p.Ile447_Lys448insAsn	Likely pathogenic
P51649	P51649-1	ALDH5A1	Insertion	p.Ile447_Lys448insAsn	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu526Ter	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu526Ter	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asp137Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asp137Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu87Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu87Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu512Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu512Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala56Pro	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala56Pro	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Met364Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Met364Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ser63Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ser63Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala311Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala311Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	Deletion	p.Trp127fs	Pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Trp127fs	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Met89Ile	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Met89Ile	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly222Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly222Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val500Leu	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val500Leu	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Cys46Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Cys46Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro77Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro77Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	Indel	p.Pro182Val	Uncertain significance
P51649	P51649-1	ALDH5A1	Indel	p.Pro182Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro422Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro422Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	Deletion	p.Ile142fs	Pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Ile142fs	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala328Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala328Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val253Ala	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val253Ala	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg173Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg173Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu114Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu114Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Cys340Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Cys340Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro194Leu	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro194Leu	Likely pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Leu243_Ser245del	Pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Leu243_Ser245del	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala100Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala100Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr224Ile	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr224Ile	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro33Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro33Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ile478Phe	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ile478Phe	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly351Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly351Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Cys223Arg	Pathogenic/Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Cys223Arg	Pathogenic/Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr233Met	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr233Met	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gln430Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gln430Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro312Ala	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro312Ala	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu107Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu107Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ser517Cys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ser517Cys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala2Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala2Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg213Gln	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg213Gln	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu310Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu310Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.His180Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.His180Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val464Ile	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val464Ile	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly29Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly29Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu114Ala	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu114Ala	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly16Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly16Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	Duplication	p.Arg99_Ala100insGlyGlyValArgGluAlaArg	Pathogenic
P51649	P51649-1	ALDH5A1	Duplication	p.Arg99_Ala100insGlyGlyValArgGluAlaArg	Pathogenic
P51649	P51649-1	ALDH5A1	Duplication	p.Arg103_Ala104insGluAlaArgAlaAlaValArg	Pathogenic
P51649	P51649-1	ALDH5A1	Duplication	p.Arg103_Ala104insGluAlaArgAlaAlaValArg	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Lys118Asn	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Lys118Asn	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu124Arg	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu124Arg	Likely pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Lys126fs	Pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Lys126fs	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Tyr128Ter	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Tyr128Ter	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu138Phe	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu138Phe	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala139Asp	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala139Asp	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala144Asp	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala144Asp	Likely pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Ser35fs	Pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Ser35fs	Pathogenic
P51649	P51649-1	ALDH5A1	Duplication	p.Ala153fs	Pathogenic
P51649	P51649-1	ALDH5A1	Duplication	p.Ala153fs	Pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.His154fs	Pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.His154fs	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu156Lys	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu156Lys	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg173Cys	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg173Cys	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly176Glu	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly176Glu	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ile179Asn	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ile179Asn	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg187Gly	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg187Gly	Pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Ala188fs	Pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Ala188fs	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Lys192Ter	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Lys192Ter	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly196Asp	Pathogenic/Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly196Asp	Pathogenic/Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro203Arg	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro203Arg	Pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Phe206fs	Pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Phe206fs	Pathogenic
P51649	P51649-1	ALDH5A1	Duplication	p.Cys46fs	Pathogenic
P51649	P51649-1	ALDH5A1	Duplication	p.Cys46fs	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro207Leu	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro207Leu	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ser208Arg	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ser208Arg	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg213Gly	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg213Gly	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg213Leu	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg213Leu	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala218Asp	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala218Asp	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro229Ser	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro229Ser	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro234Ser	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro234Ser	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly252Cys	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly252Cys	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly252Val	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly252Val	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asn255Asp	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asn255Asp	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg261Ter	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg261Ter	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val267Gly	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val267Gly	Likely pathogenic
P51649	P51649-1	ALDH5A1	Microsatellite	p.Ser55fs	Pathogenic
P51649	P51649-1	ALDH5A1	Microsatellite	p.Ser55fs	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly284Asp	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly284Asp	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Lys301Glu	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Lys301Glu	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu306Lys	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu306Lys	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asn335Lys	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asn335Lys	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gln79Ter	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gln79Ter	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro382Gln	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro382Gln	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro382Leu	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro382Leu	Likely pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Asn418fs	Pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Asn418fs	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Phe419Leu	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Phe419Leu	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr423Ala	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr423Ala	Conflicting classifications of pathogenicity
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr423Ser	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr423Ser	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu425Pro	Pathogenic/Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu425Pro	Pathogenic/Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Met432Leu	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Met432Leu	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asp92Gly	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asp92Gly	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gln477Ter	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gln477Ter	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val487Glu	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val487Glu	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Cys93Arg	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Cys93Arg	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val487Leu	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val487Leu	Likely pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Glu501del	Likely pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Glu501del	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro503Arg	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro503Arg	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Tyr519Ter	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Tyr519Ter	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly516Glu	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly516Glu	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly441Arg	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly441Arg	Likely pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Thr202fs	Likely pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Thr202fs	Likely pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Ala82fs	Pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Ala82fs	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ser9Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ser9Arg	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val90Ala	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val90Ala	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Met1Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Met1Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	Duplication	p.Val256fs	Pathogenic
P51649	P51649-1	ALDH5A1	Duplication	p.Val256fs	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asp274His	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asp274His	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg213Trp	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg213Trp	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr451Ala	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr451Ala	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala209Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala209Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val530Met	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val530Met	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu535Met	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu535Met	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Phe19Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Phe19Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	Duplication	p.Leu54_Ser55insPhe	Uncertain significance
P51649	P51649-1	ALDH5A1	Duplication	p.Leu54_Ser55insPhe	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg173Pro	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg173Pro	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Tyr175His	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Tyr175His	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val215Met	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val215Met	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu527Phe	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu527Phe	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro229Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro229Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val226Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val226Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	Deletion	p.Val253_Tyr254insTer	Pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Val253_Tyr254insTer	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val315Ile	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val315Ile	Uncertain significance
P51649	P51649-1	ALDH5A1	Deletion	p.Arg27fs	Pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Arg27fs	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg111Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg111Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala48Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala48Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala82Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala82Thr	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg25Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg25Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Met489Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Met489Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro33Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro33Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	Indel	p.Ala38fs	Pathogenic
P51649	P51649-1	ALDH5A1	Indel	p.Ala38fs	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val389Ile	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Val389Ile	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asp92Asn	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Asp92Asn	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly416Glu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gly416Glu	Uncertain significance
P51649	P51649-1	ALDH5A1	Duplication	p.Leu58fs	Pathogenic
P51649	P51649-1	ALDH5A1	Duplication	p.Leu58fs	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala355Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala355Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu276Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu276Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg103Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg103Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Trp69Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Trp69Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr75Pro	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr75Pro	Uncertain significance
P51649	P51649-1	ALDH5A1	Deletion	p.Glu501_Cys502insTer	Likely pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Glu501_Cys502insTer	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala100Pro	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala100Pro	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr339Ala	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Thr339Ala	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Phe374Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Phe374Leu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gln43Pro	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Gln43Pro	Uncertain significance
P51649	P51649-1	ALDH5A1	Deletion	p.Asp463fs	Likely pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Asp463fs	Likely pathogenic
P51649	P51649-1	ALDH5A1	Duplication	p.Thr75fs	Pathogenic
P51649	P51649-1	ALDH5A1	Duplication	p.Thr75fs	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu501Gln	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu501Gln	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Tyr254Ter	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Tyr254Ter	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ser160Phe	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ser160Phe	Uncertain significance
P51649	P51649-1	ALDH5A1	Deletion	p.Thr143fs	Likely pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Thr143fs	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu152Gln	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu152Gln	Uncertain significance
P51649	P51649-1	ALDH5A1	Deletion	p.Gly29fs	Pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Gly29fs	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg302Lys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg302Lys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala388Glu	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala388Glu	Uncertain significance
P51649	P51649-1	ALDH5A1	Indel	p.Arg125_Lys126insGlyThrIleTer	Likely pathogenic
P51649	P51649-1	ALDH5A1	Indel	p.Arg125_Lys126insGlyThrIleTer	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg350Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg350Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	Deletion	p.Gly371fs	Likely pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Gly371fs	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala34Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ala34Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Met305Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Met305Val	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg334Met	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Arg334Met	Uncertain significance
P51649	P51649-1	ALDH5A1	Deletion	p.Ile142fs	Pathogenic
P51649	P51649-1	ALDH5A1	Deletion	p.Ile142fs	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro37Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Pro37Ser	Uncertain significance
P51649	P51649-1	ALDH5A1	Insertion	p.Arg125_Lys126insGlyThrIleTer	Pathogenic
P51649	P51649-1	ALDH5A1	Insertion	p.Arg125_Lys126insGlyThrIleTer	Pathogenic
P51649	P51649-1	ALDH5A1	Duplication	p.Leu44fs	Pathogenic
P51649	P51649-1	ALDH5A1	Duplication	p.Leu44fs	Pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ser35Cys	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Ser35Cys	Uncertain significance
P51649	P51649-1	ALDH5A1	Duplication	p.Val102_Arg103insLeu	Likely pathogenic
P51649	P51649-1	ALDH5A1	Duplication	p.Val102_Arg103insLeu	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu145Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Glu145Gly	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Cys223Ser	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Cys223Ser	Likely pathogenic
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu70Pro	Uncertain significance
P51649	P51649-1	ALDH5A1	single nucleotide variant	p.Leu70Pro	Uncertain significance