CleftGeneDB-Search

Gene: GLDC

Basic information

Tag	Content
Uniprot ID	P23378; Q2M2F8;
Entrez ID	2731
Genbank protein ID	AAA36463.1; BAG36841.1; EAW58740.1; BAA14286.1; AAI11996.1; AAA36478.1; AAI11994.1;
Genbank nucleotide ID	NM_000170.2
Ensembl protein ID	ENSP00000370737
Ensembl nucleotide ID	ENSG00000178445
Gene name	Glycine dehydrogenase (decarboxylating), mitochondrial
Gene symbol	GLDC
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	The glycine cleavage system catalyzes the degradation of glycine. The P protein (GLDC) binds the alpha-amino group of glycine through its pyridoxal phosphate cofactor; CO(2) is released and the remaining methylamine moiety is then transferred to the lipoamide cofactor of the H protein (GCSH).
Sequence	MQSCARAWGL RLGRGVGGGR RLAGGSGPCW APRSRDSSSG GGDSAAAGAS RLLERLLPRH 60 DDFARRHIGP GDKDQREMLQ TLGLASIDEL IEKTVPANIR LKRPLKMEDP VCENEILATL 120 HAISSKNQIW RSYIGMGYYN CSVPQTILRN LLENSGWITQ YTPYQPEVSQ GRLESLLNYQ 180 TMVCDITGLD MANASLLDEG TAAAEALQLC YRHNKRRKFL VDPRCHPQTI AVVQTRAKYT 240 GVLTELKLPC EMDFSGKDVS GVLFQYPDTE GKVEDFTELV ERAHQSGSLA CCATDLLALC 300 ILRPPGEFGV DIALGSSQRF GVPLGYGGPH AAFFAVRESL VRMMPGRMVG VTRDATGKEV 360 YRLALQTREQ HIRRDKATSN ICTAQALLAN MAAMFAIYHG SHGLEHIARR VHNATLILSE 420 GLKRAGHQLQ HDLFFDTLKI QCGCSVKEVL GRAAQRQINF RLFEDGTLGI SLDETVNEKD 480 LDDLLWIFGC ESSAELVAES MGEECRGIPG SVFKRTSPFL THQVFNSYHS ETNIVRYMKK 540 LENKDISLVH SMIPLGSCTM KLNSSSELAP ITWKEFANIH PFVPLDQAQG YQQLFRELEK 600 DLCELTGYDQ VCFQPNSGAQ GEYAGLATIR AYLNQKGEGH RTVCLIPKSA HGTNPASAHM 660 AGMKIQPVEV DKYGNIDAVH LKAMVDKHKE NLAAIMITYP STNGVFEENI SDVCDLIHQH 720 GGQVYLDGAN MNAQVGICRP GDFGSDVSHL NLHKTFCIPH GGGGPGMGPI GVKKHLAPFL 780 PNHPVISLKR NEDACPVGTV SAAPWGSSSI LPISWAYIKM MGGKGLKQAT ETAILNANYM 840 AKRLETHYRI LFRGARGYVG HEFILDTRPF KKSANIEAVD VAKRLQDYGF HAPTMSWPVA 900 GTLMVEPTES EDKAELDRFC DAMISIRQEI ADIEEGRIDP RVNPLKMSPH SLTCVTSSHW 960 DRPYSREVAA FPLPFVKPEN KFWPTIARID DIYGDQHLVC TCPPMEVYES PFSEQKRASS 1020

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
6I33
6I34
6I35
6I34

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	GLDC	507688	E1BJQ1		Bos taurus	Prediction	More>>
1:1 ortholog	GLDC	481534	A0A5F4C8B1		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	GLDC	102174205	A0A452FM63		Capra hircus	Prediction	More>>
1:1 ortholog	GLDC	2731	P23378		Homo sapiens	Prediction	More>>
1:1 ortholog	Gldc	104174	Q91W43	CPO	Mus musculus	Publication	More>>
1:1 ortholog	GLDC		A0A2I3RPM1		Pan troglodytes	Prediction	More>>
1:1 ortholog			A0A480TLS3		Sus scrofa	Prediction	More>>
1:1 ortholog	GLDC	100343694	G1SL36		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Gldc		A0A0G2JUZ5		Rattus norvegicus	Prediction	More>>
1:1 ortholog	gldc		A0A0G2KSN1		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
RCV000012768	p.Met1Thr	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6645498A>G	ClinVar
rs1554652870	p.Gln2Ter	stop gained	-	NC_000009.12:g.6645496G>A	-
RCV000666921	p.Gln2Ter	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6645496G>A	ClinVar
rs1416204890	p.Ser3Tyr	missense variant	-	NC_000009.12:g.6645492G>T	TOPMed,gnomAD
rs1416204890	p.Ser3Phe	missense variant	-	NC_000009.12:g.6645492G>A	TOPMed,gnomAD
rs1283457075	p.Ser3Ala	missense variant	-	NC_000009.12:g.6645493A>C	TOPMed
rs1267461962	p.Cys4Ser	missense variant	-	NC_000009.12:g.6645489C>G	TOPMed
rs1358259956	p.Ala5Pro	missense variant	-	NC_000009.12:g.6645487C>G	TOPMed,gnomAD
rs1297951761	p.Ala5Val	missense variant	-	NC_000009.12:g.6645486G>A	gnomAD
rs1244750904	p.Arg6Thr	missense variant	-	NC_000009.12:g.6645483C>G	TOPMed
rs1420734296	p.Ala7Val	missense variant	-	NC_000009.12:g.6645480G>A	gnomAD
RCV000669243	p.Trp8Ter	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6645476C>T	ClinVar
RCV000668297	p.Trp8Ter	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6645477C>T	ClinVar
rs1163356968	p.Trp8Ter	stop gained	-	NC_000009.12:g.6645476C>T	TOPMed,gnomAD
rs1163356968	p.Trp8Cys	missense variant	-	NC_000009.12:g.6645476C>G	TOPMed,gnomAD
rs1477860542	p.Trp8Ter	stop gained	-	NC_000009.12:g.6645477C>T	TOPMed
rs1477860542	p.Trp8Leu	missense variant	-	NC_000009.12:g.6645477C>A	TOPMed
RCV000049501	p.Leu10Ter	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6645472del	ClinVar
rs1359478814	p.Arg11Ser	missense variant	-	NC_000009.12:g.6645469G>T	gnomAD
rs1190190287	p.Arg11Leu	missense variant	-	NC_000009.12:g.6645468C>A	gnomAD
RCV000559475	p.Arg14Ser	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6645460G>T	ClinVar
rs182760732	p.Arg14Cys	missense variant	-	NC_000009.12:g.6645460G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs182760732	p.Arg14Gly	missense variant	-	NC_000009.12:g.6645460G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs182760732	p.Arg14Ser	missense variant	-	NC_000009.12:g.6645460G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1405876098	p.Gly15Glu	missense variant	-	NC_000009.12:g.6645456C>T	TOPMed
rs1349671382	p.Gly15Arg	missense variant	-	NC_000009.12:g.6645457C>T	TOPMed
rs1278424732	p.Gly18Asp	missense variant	-	NC_000009.12:g.6645447C>T	TOPMed
rs535143891	p.Gly18Cys	missense variant	-	NC_000009.12:g.6645448C>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000609377	p.Gly18Cys	missense variant	-	NC_000009.12:g.6645448C>A	ClinVar
rs1278424732	p.Gly18Val	missense variant	-	NC_000009.12:g.6645447C>A	TOPMed
rs1273220243	p.Arg20His	missense variant	-	NC_000009.12:g.6645441C>T	gnomAD
rs939541797	p.Arg21His	missense variant	-	NC_000009.12:g.6645438C>T	TOPMed
rs939541797	p.Arg21Pro	missense variant	-	NC_000009.12:g.6645438C>G	TOPMed
rs1271356693	p.Leu22Met	missense variant	-	NC_000009.12:g.6645436G>T	TOPMed
rs1420091225	p.Ala23Val	missense variant	-	NC_000009.12:g.6645432G>A	TOPMed,gnomAD
rs1420091225	p.Ala23Asp	missense variant	-	NC_000009.12:g.6645432G>T	TOPMed,gnomAD
rs978322077	p.Ala23Thr	missense variant	-	NC_000009.12:g.6645433C>T	TOPMed,gnomAD
rs753495891	p.Gly27Glu	missense variant	-	NC_000009.12:g.6645420C>T	TOPMed,gnomAD
rs1395882327	p.Pro28Thr	missense variant	-	NC_000009.12:g.6645418G>T	gnomAD
rs1167164313	p.Cys29Tyr	missense variant	-	NC_000009.12:g.6645414C>T	gnomAD
rs974805344	p.Ala31Thr	missense variant	-	NC_000009.12:g.6645409C>T	gnomAD
rs1194585396	p.Pro32Leu	missense variant	-	NC_000009.12:g.6645405G>A	gnomAD
rs1004754180	p.Pro32Ser	missense variant	-	NC_000009.12:g.6645406G>A	TOPMed,gnomAD
rs1443669793	p.Arg33Trp	missense variant	-	NC_000009.12:g.6645403G>A	TOPMed
rs1263540087	p.Arg33Gln	missense variant	-	NC_000009.12:g.6645402C>T	gnomAD
rs1189278441	p.Ser34Gly	missense variant	-	NC_000009.12:g.6645400T>C	gnomAD
rs1253592286	p.Arg35Gln	missense variant	-	NC_000009.12:g.6645396C>T	gnomAD
rs573883784	p.Asp36His	missense variant	-	NC_000009.12:g.6645394C>G	1000Genomes
rs1265292565	p.Ser37Arg	missense variant	-	NC_000009.12:g.6645389G>C	gnomAD
rs763471932	p.Ser37Asn	missense variant	-	NC_000009.12:g.6645390C>T	ExAC,TOPMed,gnomAD
RCV000638269	p.Ser37Asn	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6645390C>T	ClinVar
rs916351495	p.Ser39Arg	missense variant	-	NC_000009.12:g.6645383A>C	TOPMed
rs1212351532	p.Gly40Ser	missense variant	-	NC_000009.12:g.6645382C>T	gnomAD
rs190430477	p.Gly42Arg	missense variant	-	NC_000009.12:g.6645376C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs759680694	p.Gly42Glu	missense variant	-	NC_000009.12:g.6645375C>T	ExAC,gnomAD
rs776824071	p.Asp43Glu	missense variant	-	NC_000009.12:g.6645371G>T	ExAC,TOPMed,gnomAD
rs1273234574	p.Asp43Gly	missense variant	-	NC_000009.12:g.6645372T>C	gnomAD
RCV000667354	p.Asp43Ter	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6645372del	ClinVar
rs771189520	p.Ser44Arg	missense variant	-	NC_000009.12:g.6645368G>C	ExAC,TOPMed,gnomAD
rs771189520	p.Ser44Arg	missense variant	-	NC_000009.12:g.6645368G>T	ExAC,TOPMed,gnomAD
rs1372322703	p.Ala45Val	missense variant	-	NC_000009.12:g.6645366G>A	TOPMed,gnomAD
rs1445233834	p.Gly48Glu	missense variant	-	NC_000009.12:g.6645357C>T	gnomAD
rs1057515608	p.Gly48Trp	missense variant	-	NC_000009.12:g.6645358C>A	TOPMed,gnomAD
RCV000406674	p.Gly48Trp	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6645358C>A	ClinVar
rs202102792	p.Ala49Gly	missense variant	-	NC_000009.12:g.6645354G>C	gnomAD
rs778725420	p.Ser50Leu	missense variant	-	NC_000009.12:g.6645351G>A	ExAC,gnomAD
rs1173661621	p.Arg51Cys	missense variant	-	NC_000009.12:g.6645349G>A	gnomAD
rs1396710210	p.Arg51His	missense variant	-	NC_000009.12:g.6645348C>T	TOPMed
rs1173661621	p.Arg51Gly	missense variant	-	NC_000009.12:g.6645349G>C	gnomAD
rs1395595781	p.Leu52Ile	missense variant	-	NC_000009.12:g.6645346G>T	gnomAD
rs1395595781	p.Leu52Phe	missense variant	-	NC_000009.12:g.6645346G>A	gnomAD
rs536725659	p.Leu53Pro	missense variant	-	NC_000009.12:g.6645342A>G	1000Genomes
rs1382501276	p.Glu54Ter	stop gained	-	NC_000009.12:g.6645340C>A	gnomAD
rs1195896229	p.Arg55Leu	missense variant	-	NC_000009.12:g.6645336C>A	gnomAD
rs755680488	p.Arg55Gly	missense variant	-	NC_000009.12:g.6645337G>C	ExAC,TOPMed,gnomAD
rs374342418	p.Leu56Phe	missense variant	-	NC_000009.12:g.6645334G>A	ExAC,TOPMed,gnomAD
rs780963698	p.Pro58Ser	missense variant	-	NC_000009.12:g.6645328G>A	ExAC,gnomAD
rs1226360717	p.Pro58His	missense variant	-	NC_000009.12:g.6645327G>T	TOPMed
RCV000049458	p.Arg59Thr	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6645324C>G	ClinVar
rs386833530	p.Arg59Thr	missense variant	-	NC_000009.12:g.6645324C>G	-
rs967627463	p.Arg59Gly	missense variant	-	NC_000009.12:g.6645325T>C	TOPMed
rs756931240	p.His60Arg	missense variant	-	NC_000009.12:g.6645321T>C	ExAC,gnomAD
rs1348979927	p.His60Asn	missense variant	-	NC_000009.12:g.6645322G>T	gnomAD
rs756931240	p.His60Leu	missense variant	-	NC_000009.12:g.6645321T>A	ExAC,gnomAD
RCV000479525	p.Asp61Glu	missense variant	-	NC_000009.12:g.6645317G>T	ClinVar
rs375497905	p.Asp61Glu	missense variant	-	NC_000009.12:g.6645317G>T	ESP,ExAC,TOPMed,gnomAD
rs375497905	p.Asp61Glu	missense variant	-	NC_000009.12:g.6645317G>C	ESP,ExAC,TOPMed,gnomAD
rs1462209032	p.Asp62Glu	missense variant	-	NC_000009.12:g.6645314G>C	TOPMed
NCI-TCGA novel	p.Asp62Val	missense variant	-	NC_000009.12:g.6645315T>A	NCI-TCGA
rs141601131	p.Ala64Thr	missense variant	-	NC_000009.12:g.6645310C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000526664	p.Ala64Ser	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6645310C>A	ClinVar
rs141601131	p.Ala64Ser	missense variant	-	NC_000009.12:g.6645310C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753246480	p.Arg65Leu	missense variant	-	NC_000009.12:g.6645306C>A	ExAC,TOPMed,gnomAD
rs753246480	p.Arg65Gln	missense variant	-	NC_000009.12:g.6645306C>T	ExAC,TOPMed,gnomAD
rs894866297	p.Arg65Trp	missense variant	-	NC_000009.12:g.6645307G>A	gnomAD
rs1554652780	p.Arg66Lys	missense variant	-	NC_000009.12:g.6645302_6645303delinsTT	-
rs765794334	p.Arg66Lys	missense variant	-	NC_000009.12:g.6645303C>T	ExAC,TOPMed,gnomAD
RCV000539470	p.Arg66Lys	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6645302_6645303delinsTT	ClinVar
rs765794334	p.Arg66Thr	missense variant	-	NC_000009.12:g.6645303C>G	ExAC,TOPMed,gnomAD
rs1375760339	p.Ile68Val	missense variant	-	NC_000009.12:g.6645298T>C	gnomAD
rs955023601	p.Gly69Ser	missense variant	-	NC_000009.12:g.6645295C>T	TOPMed
rs776730073	p.Pro70Leu	missense variant	-	NC_000009.12:g.6645291G>A	ExAC,gnomAD
rs766474326	p.Gly71Trp	missense variant	-	NC_000009.12:g.6645289C>A	ExAC,gnomAD
rs1404713643	p.Asp72Gly	missense variant	-	NC_000009.12:g.6645285T>C	TOPMed
rs760898592	p.Asp74His	missense variant	-	NC_000009.12:g.6645280C>G	ExAC,gnomAD
rs1420424361	p.Gln75His	missense variant	-	NC_000009.12:g.6645275C>G	gnomAD
rs143358660	p.Arg76Thr	missense variant	-	NC_000009.12:g.6645273C>G	ESP,ExAC,TOPMed,gnomAD
rs569728662	p.Glu77Gly	missense variant	-	NC_000009.12:g.6645270T>C	TOPMed,gnomAD
rs549637212	p.Glu77Asp	missense variant	-	NC_000009.12:g.6645269C>G	ExAC,TOPMed,gnomAD
rs549637212	p.Glu77Asp	missense variant	-	NC_000009.12:g.6645269C>A	ExAC,TOPMed,gnomAD
rs1282813808	p.Met78Ile	missense variant	-	NC_000009.12:g.6645266C>T	TOPMed
rs1282813808	p.Met78Ile	missense variant	-	NC_000009.12:g.6645266C>G	TOPMed
rs750945530	p.Gln80His	missense variant	-	NC_000009.12:g.6645260C>A	gnomAD
rs750945530	p.Gln80His	missense variant	-	NC_000009.12:g.6645260C>G	gnomAD
rs769900058	p.Gln80Pro	missense variant	-	NC_000009.12:g.6645261T>G	ExAC,gnomAD
rs386833559	p.Leu82Ser	missense variant	-	NC_000009.12:g.6645255A>G	gnomAD
RCV000049487	p.Leu82Trp	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6645255A>C	ClinVar
rs386833559	p.Leu82Trp	missense variant	-	NC_000009.12:g.6645255A>C	gnomAD
RCV000671778	p.Leu82Ser	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6645255A>G	ClinVar
rs746606221	p.Leu84Met	missense variant	-	NC_000009.12:g.6645250G>T	ExAC,TOPMed,gnomAD
rs758780401	p.Ala85Val	missense variant	-	NC_000009.12:g.6645246G>A	ExAC
rs777360615	p.Ala85Pro	missense variant	-	NC_000009.12:g.6645247C>G	ExAC
rs1330595315	p.Ser86Asn	missense variant	-	NC_000009.12:g.6644691C>T	gnomAD
rs776700682	p.Ile87Met	missense variant	-	NC_000009.12:g.6644687A>C	ExAC,TOPMed,gnomAD
RCV000638267	p.Asp88Asn	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6644686C>T	ClinVar
rs770826242	p.Asp88Asn	missense variant	-	NC_000009.12:g.6644686C>T	ExAC,TOPMed,gnomAD
rs760204566	p.Asp88Gly	missense variant	-	NC_000009.12:g.6644685T>C	ExAC,gnomAD
rs1270530638	p.Asp88Glu	missense variant	-	NC_000009.12:g.6644684A>C	gnomAD
rs772554461	p.Glu89Lys	missense variant	-	NC_000009.12:g.6644683C>T	ExAC,TOPMed,gnomAD
rs747736821	p.Leu90Phe	missense variant	-	NC_000009.12:g.6644678C>G	ExAC,TOPMed,gnomAD
RCV000638282	p.Leu90Phe	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6644678C>G	ClinVar
NCI-TCGA novel	p.Ile91Thr	missense variant	-	NC_000009.12:g.6644676A>G	NCI-TCGA
rs1325211020	p.Glu92Lys	missense variant	-	NC_000009.12:g.6644674C>T	gnomAD
rs1441569703	p.Thr94Ser	missense variant	-	NC_000009.12:g.6644668T>A	gnomAD
rs1395946316	p.Thr94Met	missense variant	-	NC_000009.12:g.6644667G>A	gnomAD
rs749710107	p.Val95Phe	missense variant	-	NC_000009.12:g.6644665C>A	ExAC,gnomAD
rs749710107	p.Val95Leu	missense variant	-	NC_000009.12:g.6644665C>G	ExAC,gnomAD
rs780515572	p.Pro96Ser	missense variant	-	NC_000009.12:g.6644662G>A	ExAC,TOPMed,gnomAD
rs756617299	p.Pro96Leu	missense variant	-	NC_000009.12:g.6644661G>A	ExAC,gnomAD
rs917975796	p.Ala97Asp	missense variant	-	NC_000009.12:g.6644658G>T	TOPMed,gnomAD
rs917975796	p.Ala97Val	missense variant	-	NC_000009.12:g.6644658G>A	TOPMed,gnomAD
rs750964572	p.Asn98Asp	missense variant	-	NC_000009.12:g.6644656T>C	ExAC,gnomAD
rs1470245998	p.Arg100His	missense variant	-	NC_000009.12:g.6644649C>T	gnomAD
rs543718579	p.Pro104Thr	missense variant	-	NC_000009.12:g.6644638G>T	1000Genomes,ExAC,gnomAD
rs759386821	p.Leu105Phe	missense variant	-	NC_000009.12:g.6644633C>A	ExAC,TOPMed,gnomAD
COSM1109555	p.Lys106Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6644632T>G	NCI-TCGA Cosmic
rs1216097144	p.Lys106Glu	missense variant	-	NC_000009.12:g.6644632T>C	TOPMed,gnomAD
RCV000253432	p.Met107Val	missense variant	-	NC_000009.12:g.6644629T>C	ClinVar
rs138454333	p.Met107Val	missense variant	-	NC_000009.12:g.6644629T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138454333	p.Met107Leu	missense variant	-	NC_000009.12:g.6644629T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1302423093	p.Asp109Asn	missense variant	-	NC_000009.12:g.6644623C>T	gnomAD
rs371491621	p.Pro110His	missense variant	-	NC_000009.12:g.6644619G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs866641732	p.Pro110Ser	missense variant	-	NC_000009.12:g.6644620G>A	gnomAD
rs371491621	p.Pro110Leu	missense variant	-	NC_000009.12:g.6644619G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1252011180	p.Val111Ile	missense variant	-	NC_000009.12:g.6644617C>T	gnomAD
rs1195908625	p.Cys112Gly	missense variant	-	NC_000009.12:g.6644614A>C	TOPMed,gnomAD
rs1214901307	p.Glu113Asp	missense variant	-	NC_000009.12:g.6620315T>A	gnomAD
rs1317471563	p.Asn114Lys	missense variant	-	NC_000009.12:g.6620312A>T	gnomAD
COSM1173514	p.Glu115Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6620311C>T	NCI-TCGA Cosmic
rs1010145706	p.Ile116Val	missense variant	-	NC_000009.12:g.6620308T>C	TOPMed,gnomAD
rs954874598	p.Ile116Thr	missense variant	-	NC_000009.12:g.6620307A>G	TOPMed
rs1407080794	p.Leu117Phe	missense variant	-	NC_000009.12:g.6620305G>A	TOPMed
rs747552331	p.Ala118Val	missense variant	-	NC_000009.12:g.6620301G>A	ExAC,TOPMed,gnomAD
rs1333702002	p.Ala118Thr	missense variant	-	NC_000009.12:g.6620302C>T	gnomAD
rs1416262474	p.Thr119Ile	missense variant	-	NC_000009.12:g.6620298G>A	gnomAD
rs758562313	p.Leu120Val	missense variant	-	NC_000009.12:g.6620296G>C	ExAC,TOPMed,gnomAD
rs748248885	p.Ala122Val	missense variant	-	NC_000009.12:g.6620289G>A	ExAC
rs748248885	p.Ala122Gly	missense variant	-	NC_000009.12:g.6620289G>C	ExAC
rs370683363	p.Ile123Leu	missense variant	-	NC_000009.12:g.6620287T>G	ESP,ExAC,gnomAD
rs370683363	p.Ile123Val	missense variant	-	NC_000009.12:g.6620287T>C	ESP,ExAC,gnomAD
rs1311286011	p.Ser125Asn	missense variant	-	NC_000009.12:g.6620280C>T	gnomAD
rs147066809	p.Trp130Ter	stop gained	-	NC_000009.12:g.6620265C>T	ESP,ExAC,TOPMed,gnomAD
RCV000049503	p.Ser132Trp	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6620259G>C	ClinVar
rs386833576	p.Ser132Leu	missense variant	-	NC_000009.12:g.6620259G>A	ExAC,TOPMed,gnomAD
rs386833576	p.Ser132Trp	missense variant	-	NC_000009.12:g.6620259G>C	ExAC,TOPMed,gnomAD
rs386833576	p.Ser132Ter	stop gained	-	NC_000009.12:g.6620259G>T	ExAC,TOPMed,gnomAD
rs1486136731	p.Tyr133His	missense variant	-	NC_000009.12:g.6620257A>G	gnomAD
rs751373832	p.Tyr133Cys	missense variant	-	NC_000009.12:g.6620256T>C	ExAC,TOPMed,gnomAD
rs751373832	p.Tyr133Ser	missense variant	-	NC_000009.12:g.6620256T>G	ExAC,TOPMed,gnomAD
rs774992052	p.Gly137Ser	missense variant	-	NC_000009.12:g.6620245C>T	ExAC,gnomAD
RCV000049504	p.Tyr138Phe	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6620241T>A	ClinVar
RCV000707474	p.Tyr138Ter	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6620242_6620243insTATT	ClinVar
rs386833577	p.Tyr138Phe	missense variant	-	NC_000009.12:g.6620241T>A	-
rs141609010	p.Tyr139Phe	missense variant	-	NC_000009.12:g.6620238T>A	ESP,ExAC,TOPMed,gnomAD
rs141609010	p.Tyr139Cys	missense variant	-	NC_000009.12:g.6620238T>C	ESP,ExAC,TOPMed,gnomAD
rs368798241	p.Asn140Lys	missense variant	-	NC_000009.12:g.6620234G>C	gnomAD
rs759792163	p.Cys141Arg	missense variant	-	NC_000009.12:g.6620233A>G	ExAC,gnomAD
RCV000761434	p.Cys141Tyr	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6620232C>T	ClinVar
rs747464155	p.Pro144Gln	missense variant	-	NC_000009.12:g.6620223G>T	ExAC,gnomAD
rs1215561178	p.Pro144Thr	missense variant	-	NC_000009.12:g.6620224G>T	TOPMed,gnomAD
RCV000590638	p.Thr146Lys	missense variant	-	NC_000009.12:g.6620217G>T	ClinVar
rs376578742	p.Thr146Met	missense variant	-	NC_000009.12:g.6620217G>A	ESP,ExAC,TOPMed,gnomAD
rs376578742	p.Thr146Lys	missense variant	-	NC_000009.12:g.6620217G>T	ESP,ExAC,TOPMed,gnomAD
rs376578742	p.Thr146Met	missense variant	-	NC_000009.12:g.6620217G>A	NCI-TCGA
rs768963382	p.Ile147Val	missense variant	-	NC_000009.12:g.6620215T>C	ExAC,TOPMed,gnomAD
rs183024300	p.Arg149Trp	missense variant	-	NC_000009.12:g.6620209G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs538431715	p.Arg149Gln	missense variant	-	NC_000009.12:g.6620208C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg149Leu	missense variant	-	NC_000009.12:g.6620208C>A	NCI-TCGA
COSM1462688	p.Asn150Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6620204G>T	NCI-TCGA Cosmic
rs386833578	p.Asn150Thr	missense variant	-	NC_000009.12:g.6620205T>G	-
RCV000049505	p.Asn150Thr	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6620205T>G	ClinVar
rs386833579	p.Glu153Ter	stop gained	-	NC_000009.12:g.6620197C>A	-
RCV000049506	p.Glu153Ter	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6620197C>A	ClinVar
rs1328107891	p.Asn154Lys	missense variant	-	NC_000009.12:g.6620192G>T	TOPMed
rs757052071	p.Ser155Leu	missense variant	-	NC_000009.12:g.6620190G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly156Val	missense variant	-	NC_000009.12:g.6620187C>A	NCI-TCGA
NCI-TCGA novel	p.Trp157Leu	missense variant	-	NC_000009.12:g.6620184C>A	NCI-TCGA
NCI-TCGA novel	p.Ile158Thr	missense variant	-	NC_000009.12:g.6610354A>G	NCI-TCGA
rs1264725941	p.Gln160Ter	stop gained	-	NC_000009.12:g.6610349G>A	TOPMed
rs1255044469	p.Gln160Pro	missense variant	-	NC_000009.12:g.6610348T>G	gnomAD
rs386833580	p.Tyr161Cys	missense variant	-	NC_000009.12:g.6610345T>C	-
RCV000049507	p.Tyr161Cys	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6610345T>C	ClinVar
rs746124283	p.Tyr164Ter	stop gained	-	NC_000009.12:g.6610335G>T	ExAC,gnomAD
rs772947159	p.Pro166Ser	missense variant	-	NC_000009.12:g.6610331G>A	ExAC,TOPMed,gnomAD
RCV000624546	p.Glu167Ter	nonsense	Inborn genetic diseases	NC_000009.12:g.6610328C>A	ClinVar
rs191905539	p.Glu167Ter	stop gained	-	NC_000009.12:g.6610328C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1241332349	p.Val168Ala	missense variant	-	NC_000009.12:g.6610324A>G	TOPMed,gnomAD
rs936791052	p.Val168Met	missense variant	-	NC_000009.12:g.6610325C>T	TOPMed,gnomAD
rs1356375715	p.Ser169Pro	missense variant	-	NC_000009.12:g.6610322A>G	gnomAD
rs754495182	p.Ser169Cys	missense variant	-	NC_000009.12:g.6610321G>C	ExAC,gnomAD
rs1356375715	p.Ser169Pro	missense variant	-	NC_000009.12:g.6610322A>G	NCI-TCGA
rs553354006	p.Gly171Arg	missense variant	-	NC_000009.12:g.6610316C>T	1000Genomes,ExAC,gnomAD
rs553354006	p.Gly171Arg	missense variant	-	NC_000009.12:g.6610316C>G	1000Genomes,ExAC,gnomAD
rs755787032	p.Leu173Met	missense variant	-	NC_000009.12:g.6610310G>T	ExAC,gnomAD
VAR_078777	p.Leu173Pro	Missense	Non-ketotic hyperglycinemia (NKH) [MIM:605899]	-	UniProt
rs750123280	p.Glu174Lys	missense variant	-	NC_000009.12:g.6610307C>T	ExAC,gnomAD
rs767863790	p.Glu174Asp	missense variant	-	NC_000009.12:g.6610305C>A	ExAC
rs750123280	p.Glu174Gln	missense variant	-	NC_000009.12:g.6610307C>G	ExAC,gnomAD
rs1458411946	p.Leu176Ser	missense variant	-	NC_000009.12:g.6610300A>G	gnomAD
rs757566503	p.Leu176Phe	missense variant	-	NC_000009.12:g.6610299T>G	ExAC
COSM6115756	p.Leu177Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6610298G>T	NCI-TCGA Cosmic
rs375402770	p.Asn178Lys	missense variant	-	NC_000009.12:g.6610293G>C	ESP,ExAC,TOPMed
rs1415039850	p.Asn178Ser	missense variant	-	NC_000009.12:g.6610294T>C	gnomAD
rs764559927	p.Tyr179Ter	stop gained	-	NC_000009.12:g.6610290G>C	ExAC,gnomAD
COSM3907615	p.Tyr179His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6610292A>G	NCI-TCGA Cosmic
COSM3907614	p.Gln180Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6610288T>C	NCI-TCGA Cosmic
rs762989914	p.Gln180Ter	stop gained	-	NC_000009.12:g.6610289G>A	ExAC,gnomAD
rs541691467	p.Met182Val	missense variant	-	NC_000009.12:g.6610283T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000535326	p.Met182Val	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6610283T>C	ClinVar
rs1263123723	p.Cys184Phe	missense variant	-	NC_000009.12:g.6610276C>A	gnomAD
rs369031015	p.Cys184Ser	missense variant	-	NC_000009.12:g.6610277A>T	ESP,TOPMed
rs759699162	p.Cys184Trp	missense variant	-	NC_000009.12:g.6610275A>C	ExAC,gnomAD
rs1272627675	p.Asp185Gly	missense variant	-	NC_000009.12:g.6610273T>C	gnomAD
rs776847249	p.Asp185Asn	missense variant	-	NC_000009.12:g.6610274C>T	ExAC,gnomAD
rs386833582	p.Thr187Ile	missense variant	-	NC_000009.12:g.6610267G>A	TOPMed,gnomAD
RCV000049509	p.Thr187Lys	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6610267G>T	ClinVar
rs386833582	p.Thr187Arg	missense variant	-	NC_000009.12:g.6610267G>C	TOPMed,gnomAD
rs386833582	p.Thr187Lys	missense variant	-	NC_000009.12:g.6610267G>T	TOPMed,gnomAD
rs776741850	p.Gly188Arg	missense variant	-	NC_000009.12:g.6610265C>G	TOPMed
NCI-TCGA novel	p.Gly188Asp	missense variant	-	NC_000009.12:g.6610264C>T	NCI-TCGA
rs1461429424	p.Met191Lys	missense variant	-	NC_000009.12:g.6610255A>T	gnomAD
rs1263133221	p.Met191Val	missense variant	-	NC_000009.12:g.6610256T>C	TOPMed
rs774319185	p.Ala192Thr	missense variant	-	NC_000009.12:g.6610253C>T	ExAC,gnomAD
rs555919940	p.Asn193Ser	missense variant	-	NC_000009.12:g.6610249T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1437194194	p.Ala194Glu	missense variant	-	NC_000009.12:g.6610246G>T	gnomAD
rs1461615694	p.Leu197Val	missense variant	-	NC_000009.12:g.6610238G>C	gnomAD
RCV000547795	p.Leu197Val	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6610238G>C	ClinVar
NCI-TCGA novel	p.Asp198Asn	missense variant	-	NC_000009.12:g.6610235C>T	NCI-TCGA
rs386833583	p.Ala202Val	missense variant	-	NC_000009.12:g.6610222G>A	-
RCV000049510	p.Ala202Val	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6610222G>A	ClinVar
rs755699030	p.Ala203Gly	missense variant	-	NC_000009.12:g.6610219G>C	ExAC,gnomAD
rs1190684061	p.Ala204Val	missense variant	-	NC_000009.12:g.6610216G>A	gnomAD
rs757620314	p.Ala204Ser	missense variant	-	NC_000009.12:g.6610217C>A	ExAC,gnomAD
rs757620314	p.Ala204Thr	missense variant	-	NC_000009.12:g.6610217C>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu205Lys	missense variant	-	NC_000009.12:g.6610214C>T	NCI-TCGA
rs751911205	p.Ala206Ser	missense variant	-	NC_000009.12:g.6610211C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala206Thr	missense variant	-	NC_000009.12:g.6610211C>T	NCI-TCGA
RCV000528350	p.Leu207Val	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6610208G>C	ClinVar
rs142181803	p.Leu207Met	missense variant	-	NC_000009.12:g.6610208G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142181803	p.Leu207Val	missense variant	-	NC_000009.12:g.6610208G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu207HisPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.6610207_6610208insGT	NCI-TCGA
rs1163351205	p.Gln208Lys	missense variant	-	NC_000009.12:g.6610205G>T	TOPMed
NCI-TCGA novel	p.Gln208His	missense variant	-	NC_000009.12:g.6610203C>A	NCI-TCGA
rs1425334247	p.Leu209Val	missense variant	-	NC_000009.12:g.6610202G>C	TOPMed
rs375289229	p.Tyr211His	missense variant	-	NC_000009.12:g.6610196A>G	ESP,ExAC,TOPMed,gnomAD
rs139931025	p.Tyr211Cys	missense variant	-	NC_000009.12:g.6610195T>C	ESP,ExAC,TOPMed,gnomAD
RCV000049584	p.Arg212Lys	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6610192C>T	ClinVar
rs1212968746	p.Arg212Gly	missense variant	-	NC_000009.12:g.6610193T>C	gnomAD
rs386833584	p.Arg212Lys	missense variant	-	NC_000009.12:g.6610192C>T	ExAC,gnomAD
rs386833584	p.Arg212Ile	missense variant	-	NC_000009.12:g.6610192C>A	ExAC,gnomAD
rs1210682949	p.His213Asn	missense variant	-	NC_000009.12:g.6606668G>T	gnomAD
rs1165779021	p.His213Gln	missense variant	-	NC_000009.12:g.6606666G>C	gnomAD
rs1271498448	p.His213Arg	missense variant	-	NC_000009.12:g.6606667T>C	TOPMed
RCV000540798	p.His213Asn	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6606668G>T	ClinVar
rs1488314062	p.Asn214Ile	missense variant	-	NC_000009.12:g.6606664T>A	TOPMed
rs1281499479	p.Lys215Thr	missense variant	-	NC_000009.12:g.6606661T>G	gnomAD
RCV000762552	p.Arg216Gly	missense variant	-	NC_000009.12:g.6606659T>C	ClinVar
RCV000524696	p.Arg216Gly	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6606659T>C	ClinVar
rs140411475	p.Arg216Gly	missense variant	-	NC_000009.12:g.6606659T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg217Gly	missense variant	-	NC_000009.12:g.6606656T>C	NCI-TCGA
rs759551069	p.Phe219Ser	missense variant	-	NC_000009.12:g.6606649A>G	ExAC,gnomAD
rs1313892401	p.Val221Asp	missense variant	-	NC_000009.12:g.6606643A>T	TOPMed,gnomAD
rs144043066	p.Val221Ile	missense variant	-	NC_000009.12:g.6606644C>T	ESP,ExAC,TOPMed,gnomAD
rs1313892401	p.Val221Ala	missense variant	-	NC_000009.12:g.6606643A>G	TOPMed,gnomAD
rs144043066	p.Val221Phe	missense variant	-	NC_000009.12:g.6606644C>A	ESP,ExAC,TOPMed,gnomAD
rs746578643	p.Asp222Val	missense variant	-	NC_000009.12:g.6606640T>A	ExAC,gnomAD
rs201049516	p.Pro223Arg	missense variant	-	NC_000009.12:g.6606637G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs28617412	p.Arg224His	missense variant	-	NC_000009.12:g.6606634C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755436133	p.Arg224Gly	missense variant	-	NC_000009.12:g.6606635G>C	ExAC,TOPMed,gnomAD
rs755436133	p.Arg224Cys	missense variant	-	NC_000009.12:g.6606635G>A	ExAC,TOPMed,gnomAD
RCV000518772	p.Arg224His	missense variant	-	NC_000009.12:g.6606634C>T	ClinVar
rs12006003	p.His226Gln	missense variant	-	NC_000009.12:g.6606627G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln228His	missense variant	-	NC_000009.12:g.6606621C>A	NCI-TCGA
rs1046550773	p.Ala231Ser	missense variant	-	NC_000009.12:g.6606614C>A	TOPMed
NCI-TCGA novel	p.Ala231Asp	missense variant	-	NC_000009.12:g.6606613G>T	NCI-TCGA
RCV000329076	p.Val233Ala	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6606607A>G	ClinVar
rs140013612	p.Val233Ala	missense variant	-	NC_000009.12:g.6606607A>G	ESP,ExAC,TOPMed,gnomAD
rs776639131	p.Gln234Arg	missense variant	-	NC_000009.12:g.6606604T>C	ExAC,TOPMed,gnomAD
RCV000264550	p.Gln234Arg	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6606604T>C	ClinVar
rs150698281	p.Gln234Glu	missense variant	-	NC_000009.12:g.6606605G>C	ESP,ExAC,TOPMed,gnomAD
rs765805899	p.Thr235Ser	missense variant	-	NC_000009.12:g.6606601G>C	ExAC,TOPMed,gnomAD
rs386833585	p.Arg236Ter	stop gained	-	NC_000009.12:g.6606599G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000049511	p.Arg236Ter	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6606599G>A	ClinVar
rs772832052	p.Arg236Pro	missense variant	-	NC_000009.12:g.6606598C>G	ExAC,gnomAD
rs386833585	p.Arg236Gly	missense variant	-	NC_000009.12:g.6606599G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs772832052	p.Arg236Gln	missense variant	-	NC_000009.12:g.6606598C>T	ExAC,gnomAD
rs1344931491	p.Tyr239Asn	missense variant	-	NC_000009.12:g.6605277A>T	TOPMed,gnomAD
rs1436586216	p.Tyr239Ter	stop gained	-	NC_000009.12:g.6605275A>C	gnomAD
rs781364515	p.Tyr239Cys	missense variant	-	NC_000009.12:g.6605276T>C	ExAC,TOPMed,gnomAD
rs1174541100	p.Thr240Ala	missense variant	-	NC_000009.12:g.6605274T>C	TOPMed
rs1008397934	p.Gly241Val	missense variant	-	NC_000009.12:g.6605270C>A	TOPMed,gnomAD
rs1008397934	p.Gly241Glu	missense variant	-	NC_000009.12:g.6605270C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Val242Ile	missense variant	-	NC_000009.12:g.6605268C>T	NCI-TCGA
NCI-TCGA novel	p.Thr244Ile	missense variant	-	NC_000009.12:g.6605261G>A	NCI-TCGA
rs754710330	p.Pro249Leu	missense variant	-	NC_000009.12:g.6605246G>A	ExAC,TOPMed,gnomAD
rs778202301	p.Pro249Ser	missense variant	-	NC_000009.12:g.6605247G>A	ExAC,TOPMed,gnomAD
rs1377651939	p.Cys250Trp	missense variant	-	NC_000009.12:g.6605242A>C	gnomAD
rs766114667	p.Met252Thr	missense variant	-	NC_000009.12:g.6605237A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp253Glu	missense variant	-	NC_000009.12:g.6605233G>T	NCI-TCGA
rs184164954	p.Ser255Asn	missense variant	-	NC_000009.12:g.6605228C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1210528176	p.Gly256Glu	missense variant	-	NC_000009.12:g.6605225C>T	gnomAD
rs1183336671	p.Lys257Asn	missense variant	-	NC_000009.12:g.6605221T>A	gnomAD
rs369719863	p.Asp258Tyr	missense variant	-	NC_000009.12:g.6605220C>A	ESP,ExAC,gnomAD
rs766944621	p.Val259Ile	missense variant	-	NC_000009.12:g.6605217C>T	ExAC,TOPMed,gnomAD
rs766944621	p.Val259Leu	missense variant	-	NC_000009.12:g.6605217C>G	ExAC,TOPMed,gnomAD
rs751197838	p.Ser260Gly	missense variant	-	NC_000009.12:g.6605214T>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu263Phe	missense variant	-	NC_000009.12:g.6605203C>G	NCI-TCGA
rs1554648121	p.Phe264Leu	missense variant	-	NC_000009.12:g.6605200G>C	-
RCV000049512	p.Gln265Ter	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6605200del	ClinVar
RCV000674678	p.Pro267Ala	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6605193G>C	ClinVar
RCV000672714	p.Pro267Leu	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6605192G>A	ClinVar
rs138484426	p.Pro267Leu	missense variant	-	NC_000009.12:g.6605192G>A	ESP,ExAC,TOPMed,gnomAD
rs1554648117	p.Pro267Ala	missense variant	-	NC_000009.12:g.6605193G>C	-
rs1554648117	p.Pro267Ala	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6605193G>C	UniProt,dbSNP
VAR_078778	p.Pro267Ala	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6605193G>C	UniProt
RCV000049513	p.Thr269Met	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6605186G>A	ClinVar
rs386833587	p.Thr269Met	missense variant	-	NC_000009.12:g.6605186G>A	ExAC,TOPMed,gnomAD
rs386833588	p.Glu270Ter	stop gained	-	NC_000009.12:g.6605184C>A	-
rs760055824	p.Glu270Asp	missense variant	-	NC_000009.12:g.6605182C>G	ExAC,TOPMed,gnomAD
RCV000049514	p.Glu270Ter	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6605184C>A	ClinVar
RCV000673663	p.Gly271Arg	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6605181C>T	ClinVar
rs1430370196	p.Gly271Glu	missense variant	-	NC_000009.12:g.6605180C>T	TOPMed
rs1554648113	p.Gly271Arg	missense variant	-	NC_000009.12:g.6605181C>T	-
rs566939288	p.Lys272Thr	missense variant	-	NC_000009.12:g.6605177T>G	ExAC,TOPMed,gnomAD
COSM1490062	p.Lys272Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6605176C>G	NCI-TCGA Cosmic
rs566939288	p.Lys272Arg	missense variant	-	NC_000009.12:g.6605177T>C	ExAC,TOPMed,gnomAD
rs747139145	p.Glu274Lys	missense variant	-	NC_000009.12:g.6605172C>T	ExAC,gnomAD
rs147497463	p.Asp275His	missense variant	-	NC_000009.12:g.6605169C>G	ESP,ExAC,TOPMed,gnomAD
rs967825860	p.Phe276Ser	missense variant	-	NC_000009.12:g.6605165A>G	TOPMed
rs1009395229	p.Thr277Met	missense variant	-	NC_000009.12:g.6605162G>A	TOPMed,gnomAD
rs372595899	p.Thr277Ser	missense variant	-	NC_000009.12:g.6605163T>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr277Lys	missense variant	-	NC_000009.12:g.6605162G>T	NCI-TCGA
rs779837711	p.Glu278Lys	missense variant	-	NC_000009.12:g.6605160C>T	ExAC,TOPMed,gnomAD
rs998158526	p.Leu279Ile	missense variant	-	NC_000009.12:g.6605157G>T	TOPMed,gnomAD
rs750354076	p.Val280Gly	missense variant	-	NC_000009.12:g.6605153A>C	ExAC,gnomAD
rs1258949524	p.Val280Met	missense variant	-	NC_000009.12:g.6605154C>T	TOPMed,gnomAD
RCV000049515	p.Ala283Pro	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6605145C>G	ClinVar
rs386833589	p.Ala283Pro	missense variant	-	NC_000009.12:g.6605145C>G	gnomAD
rs1210767970	p.His284Pro	missense variant	-	NC_000009.12:g.6605141T>G	gnomAD
RCV000674637	p.His284Pro	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6605141T>G	ClinVar
NCI-TCGA novel	p.His284Tyr	missense variant	-	NC_000009.12:g.6605142G>A	NCI-TCGA
rs1333032735	p.Ser286Arg	missense variant	-	NC_000009.12:g.6605134A>C	gnomAD
COSM6183592	p.Ser286Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6605134A>T	NCI-TCGA Cosmic
rs1223720659	p.Gly287Ala	missense variant	-	NC_000009.12:g.6605132C>G	TOPMed
rs1291181951	p.Gly287Trp	missense variant	-	NC_000009.12:g.6605133C>A	gnomAD
rs1273751465	p.Ser288Cys	missense variant	-	NC_000009.12:g.6604784T>A	gnomAD
rs534936420	p.Ala290Val	missense variant	-	NC_000009.12:g.6604777G>A	1000Genomes,ExAC,gnomAD
rs1436719669	p.Ala290Thr	missense variant	-	NC_000009.12:g.6604778C>T	TOPMed,gnomAD
rs777632051	p.Cys291Phe	missense variant	-	NC_000009.12:g.6604774C>A	ExAC,TOPMed,gnomAD
RCV000359296	p.Cys291Gly	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6604775A>C	ClinVar
RCV000588380	p.Cys291Arg	missense variant	-	NC_000009.12:g.6604775A>G	ClinVar
rs777632051	p.Cys291Ser	missense variant	-	NC_000009.12:g.6604774C>G	ExAC,TOPMed,gnomAD
rs141014950	p.Cys291Arg	missense variant	-	NC_000009.12:g.6604775A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141014950	p.Cys291Gly	missense variant	-	NC_000009.12:g.6604775A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1198233054	p.Thr294Ser	missense variant	-	NC_000009.12:g.6604765G>C	TOPMed
rs1424489267	p.Asp295Glu	missense variant	-	NC_000009.12:g.6604761G>C	gnomAD
RCV000669910	p.Leu296Phe	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6604760G>A	ClinVar
RCV000049517	p.Leu296Arg	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6604759A>C	ClinVar
rs200413149	p.Leu296Phe	missense variant	-	NC_000009.12:g.6604760G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200413149	p.Leu296Ile	missense variant	-	NC_000009.12:g.6604760G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs386833591	p.Leu296Arg	missense variant	-	NC_000009.12:g.6604759A>C	-
NCI-TCGA novel	p.Leu297Ser	missense variant	-	NC_000009.12:g.6604756A>G	NCI-TCGA
rs778601135	p.Ala298Pro	missense variant	-	NC_000009.12:g.6604754C>G	ExAC,gnomAD
rs1231450641	p.Cys300Gly	missense variant	-	NC_000009.12:g.6604748A>C	gnomAD
rs753551054	p.Arg303Trp	missense variant	-	NC_000009.12:g.6604739T>A	ExAC,gnomAD
rs1207147043	p.Pro304Leu	missense variant	-	NC_000009.12:g.6604735G>A	gnomAD
RCV000670325	p.Pro304Leu	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6604735G>A	ClinVar
rs370964168	p.Pro305Thr	missense variant	-	NC_000009.12:g.6604733G>T	ESP,ExAC,gnomAD
RCV000544724	p.Pro305Thr	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6604733G>T	ClinVar
rs756499002	p.Gly306Ter	stop gained	-	NC_000009.12:g.6604730C>A	ExAC,gnomAD
rs1219376788	p.Phe308Tyr	missense variant	-	NC_000009.12:g.6604723A>T	gnomAD
rs1346671845	p.Phe308Leu	missense variant	-	NC_000009.12:g.6604722A>C	gnomAD
rs750925978	p.Gly309Val	missense variant	-	NC_000009.12:g.6604720C>A	ExAC,TOPMed,gnomAD
rs1420790743	p.Val310Gly	missense variant	-	NC_000009.12:g.6604717A>C	TOPMed
rs767956460	p.Asp311Glu	missense variant	-	NC_000009.12:g.6604713G>T	ExAC,gnomAD
rs79057118	p.Ile312Met	missense variant	-	NC_000009.12:g.6604710G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761921284	p.Ile312Thr	missense variant	-	NC_000009.12:g.6604711A>G	ExAC,TOPMed,gnomAD
rs1351445046	p.Ile312Val	missense variant	-	NC_000009.12:g.6604712T>C	TOPMed,gnomAD
rs964305745	p.Ala313Gly	missense variant	-	NC_000009.12:g.6604708G>C	TOPMed
RCV000049518	p.Ala313Pro	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6604709C>G	ClinVar
rs386833592	p.Ala313Thr	missense variant	-	NC_000009.12:g.6604709C>T	ESP,ExAC,TOPMed,gnomAD
rs386833592	p.Ala313Ser	missense variant	-	NC_000009.12:g.6604709C>A	ESP,ExAC,TOPMed,gnomAD
rs386833592	p.Ala313Pro	missense variant	-	NC_000009.12:g.6604709C>G	ESP,ExAC,TOPMed,gnomAD
rs1292183482	p.Gly315Ser	missense variant	-	NC_000009.12:g.6604703C>T	gnomAD
NCI-TCGA novel	p.Gly315Cys	missense variant	-	NC_000009.12:g.6604703C>A	NCI-TCGA
rs757165297	p.Ser317Tyr	missense variant	-	NC_000009.12:g.6604696G>T	ExAC,gnomAD
rs757165297	p.Ser317Cys	missense variant	-	NC_000009.12:g.6604696G>C	ExAC,gnomAD
rs746831935	p.Gln318Ter	stop gained	-	NC_000009.12:g.6604694G>A	ExAC,gnomAD
rs773173613	p.Phe320Cys	missense variant	-	NC_000009.12:g.6604687A>C	ExAC,TOPMed,gnomAD
rs771868469	p.Phe320Leu	missense variant	-	NC_000009.12:g.6604686A>C	ExAC,TOPMed,gnomAD
rs1184125501	p.Gly321Arg	missense variant	-	NC_000009.12:g.6604685C>T	gnomAD
COSM4929815	p.Val322Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6604681A>T	NCI-TCGA Cosmic
rs778504810	p.Leu324Val	missense variant	-	NC_000009.12:g.6604676G>C	ExAC,gnomAD
rs386833593	p.Pro329Thr	missense variant	-	NC_000009.12:g.6604661G>T	-
RCV000049519	p.Pro329Thr	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6604661G>T	ClinVar
rs1267445922	p.His330Arg	missense variant	-	NC_000009.12:g.6604657T>C	TOPMed
rs1378917925	p.Phe333Cys	missense variant	-	NC_000009.12:g.6604648A>C	gnomAD
RCV000323680	p.Phe334Leu	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6604646A>G	ClinVar
rs149133229	p.Phe334Leu	missense variant	-	NC_000009.12:g.6604646A>G	ESP,ExAC,TOPMed,gnomAD
rs750791553	p.Ala335Val	missense variant	-	NC_000009.12:g.6604642G>A	ExAC,gnomAD
RCV000049444	p.Ala335Ter	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6604649dup	ClinVar
rs386833517	p.Arg337Gly	missense variant	-	NC_000009.12:g.6604637G>C	ExAC,TOPMed,gnomAD
RCV000049445	p.Arg337Ter	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6604637G>A	ClinVar
rs386833517	p.Arg337Ter	stop gained	-	NC_000009.12:g.6604637G>A	ExAC,TOPMed,gnomAD
rs138129131	p.Arg337Gln	missense variant	-	NC_000009.12:g.6604636C>T	ESP,ExAC,TOPMed,gnomAD
RCV000638281	p.Arg337Gln	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6604636C>T	ClinVar
RCV000404397	p.Arg337Ter	nonsense	-	NC_000009.12:g.6604637G>A	ClinVar
NCI-TCGA novel	p.Glu338Ter	stop gained	-	NC_000009.12:g.6604634C>A	NCI-TCGA
rs1343291893	p.Ser339Asn	missense variant	-	NC_000009.12:g.6604630C>T	TOPMed,gnomAD
rs563039693	p.Leu340Phe	missense variant	-	NC_000009.12:g.6604626C>G	1000Genomes,ExAC,gnomAD
rs1161195341	p.Arg342Lys	missense variant	-	NC_000009.12:g.6604621C>T	TOPMed,gnomAD
rs1401267156	p.Met344Thr	missense variant	-	NC_000009.12:g.6604615A>G	gnomAD
rs752892944	p.Met344Ile	missense variant	-	NC_000009.12:g.6604614C>T	ExAC,gnomAD
rs752892944	p.Met344Ile	missense variant	-	NC_000009.12:g.6604614C>G	ExAC,gnomAD
rs752892944	p.Met344Ile	missense variant	-	NC_000009.12:g.6604614C>A	ExAC,gnomAD
RCV000670628	p.Pro345Thr	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6604613G>T	ClinVar
rs373263202	p.Pro345Thr	missense variant	-	NC_000009.12:g.6604613G>T	ESP,ExAC,gnomAD
rs772830263	p.Gly346Ala	missense variant	-	NC_000009.12:g.6604609C>G	ExAC,TOPMed
rs772830263	p.Gly346Val	missense variant	-	NC_000009.12:g.6604609C>A	ExAC,TOPMed
COSM261106	p.Arg347Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6604606C>A	NCI-TCGA Cosmic
rs555359738	p.Arg347Gly	missense variant	-	NC_000009.12:g.6604607T>C	TOPMed
rs1465066546	p.Gly350Val	missense variant	-	NC_000009.12:g.6604597C>A	gnomAD
rs1187433701	p.Gly350Arg	missense variant	-	NC_000009.12:g.6604598C>T	gnomAD
RCV000616020	p.Thr352Arg	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6604591G>C	ClinVar
RCV000049446	p.Thr352Ter	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6604593del	ClinVar
rs1554648060	p.Thr352Arg	missense variant	-	NC_000009.12:g.6604591G>C	-
rs370409839	p.Thr352Ala	missense variant	-	NC_000009.12:g.6604592T>C	ESP,ExAC,TOPMed,gnomAD
rs1336417205	p.Asp354Asn	missense variant	-	NC_000009.12:g.6602204C>T	TOPMed,gnomAD
rs921808718	p.Ala355Val	missense variant	-	NC_000009.12:g.6602200G>A	TOPMed
rs1291866387	p.Ala355Thr	missense variant	-	NC_000009.12:g.6602201C>T	TOPMed
rs531320127	p.Thr356Pro	missense variant	-	NC_000009.12:g.6602198T>G	1000Genomes,ExAC,gnomAD
rs376612483	p.Thr356Ser	missense variant	-	NC_000009.12:g.6602197G>C	ESP,ExAC,TOPMed,gnomAD
rs941998596	p.Gly357Arg	missense variant	-	NC_000009.12:g.6602195C>T	TOPMed
rs1432226462	p.Glu359Gly	missense variant	-	NC_000009.12:g.6602188T>C	gnomAD
rs373482451	p.Val360Leu	missense variant	-	NC_000009.12:g.6602186C>A	ESP,ExAC,TOPMed,gnomAD
rs373482451	p.Val360Leu	missense variant	-	NC_000009.12:g.6602186C>G	ESP,ExAC,TOPMed,gnomAD
rs1359587024	p.Tyr361His	missense variant	-	NC_000009.12:g.6602183A>G	gnomAD
rs780954858	p.Tyr361Cys	missense variant	-	NC_000009.12:g.6602182T>C	ExAC,TOPMed,gnomAD
rs535771852	p.Arg362His	missense variant	-	NC_000009.12:g.6602179C>T	gnomAD
rs10975674	p.Arg362Cys	missense variant	-	NC_000009.12:g.6602180G>A	ExAC,gnomAD
RCV000670165	p.Arg362Cys	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6602180G>A	ClinVar
rs747411776	p.Ala364Gly	missense variant	-	NC_000009.12:g.6602173G>C	ExAC,gnomAD
rs201333795	p.Gln366Arg	missense variant	-	NC_000009.12:g.6602167T>C	1000Genomes
rs1254300059	p.Gln366Ter	stop gained	-	NC_000009.12:g.6602168G>A	TOPMed,gnomAD
rs1183976692	p.Thr367Ile	missense variant	-	NC_000009.12:g.6602164G>A	TOPMed
RCV000625944	p.Thr367Ile	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6602164G>A	ClinVar
COSM6115760	p.Arg368Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6602161C>T	NCI-TCGA Cosmic
rs1417928767	p.Glu369Asp	missense variant	-	NC_000009.12:g.6602157C>G	TOPMed
rs201678591	p.Gln370Arg	missense variant	-	NC_000009.12:g.6602155T>C	1000Genomes
rs570097430	p.Gln370Lys	missense variant	-	NC_000009.12:g.6602156G>T	1000Genomes,ExAC,gnomAD
rs570097430	p.Gln370Ter	stop gained	-	NC_000009.12:g.6602156G>A	1000Genomes,ExAC,gnomAD
RCV000670163	p.Gln370Ter	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6602156G>A	ClinVar
rs386833519	p.His371Asp	missense variant	-	NC_000009.12:g.6602153G>C	-
RCV000049447	p.His371Asp	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6602153G>C	ClinVar
rs755156031	p.Ile372Val	missense variant	-	NC_000009.12:g.6602150T>C	ExAC,TOPMed,gnomAD
COSM1109551	p.Arg373Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6602146C>T	NCI-TCGA Cosmic
RCV000666682	p.Arg373Trp	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6602147G>A	ClinVar
rs150171524	p.Arg373Trp	missense variant	-	NC_000009.12:g.6602147G>A	ESP,ExAC,TOPMed,gnomAD
rs150171524	p.Arg373Trp	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6602147G>A	UniProt,dbSNP
VAR_078780	p.Arg373Trp	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6602147G>A	UniProt
rs150171524	p.Arg373Gly	missense variant	-	NC_000009.12:g.6602147G>C	ESP,ExAC,TOPMed,gnomAD
rs141065026	p.Arg374Lys	missense variant	-	NC_000009.12:g.6602143C>T	ESP,ExAC,TOPMed,gnomAD
rs757089930	p.Asp375Tyr	missense variant	-	NC_000009.12:g.6602141C>A	ExAC,gnomAD
rs774093619	p.Lys376Glu	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6602138T>C	UniProt,dbSNP
VAR_078781	p.Lys376Glu	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6602138T>C	UniProt
rs774093619	p.Lys376Glu	missense variant	-	NC_000009.12:g.6602138T>C	TOPMed,gnomAD
rs1300550278	p.Lys376Thr	missense variant	-	NC_000009.12:g.6602137T>G	gnomAD
rs774093619	p.Lys376Gln	missense variant	-	NC_000009.12:g.6602138T>G	TOPMed,gnomAD
rs1359244190	p.Thr378Ala	missense variant	-	NC_000009.12:g.6602132T>C	gnomAD
rs764004792	p.Thr378Asn	missense variant	-	NC_000009.12:g.6602131G>T	ExAC,gnomAD
rs764004792	p.Thr378Ile	missense variant	-	NC_000009.12:g.6602131G>A	ExAC,gnomAD
rs762926339	p.Ser379Arg	missense variant	-	NC_000009.12:g.6602127G>C	ExAC
COSM6183594	p.Asn380Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6602126T>A	NCI-TCGA Cosmic
rs775502762	p.Ile381Thr	missense variant	-	NC_000009.12:g.6602122A>G	ExAC,gnomAD
rs759133707	p.Cys382Tyr	missense variant	-	NC_000009.12:g.6602119C>T	ExAC,gnomAD
RCV000638285	p.Cys382Tyr	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6602119C>T	ClinVar
rs1473856167	p.Thr383Ile	missense variant	-	NC_000009.12:g.6602116G>A	gnomAD
rs1200399836	p.Gln385His	missense variant	-	NC_000009.12:g.6602109C>G	gnomAD
NCI-TCGA novel	p.Gln385Ter	stop gained	-	NC_000009.12:g.6602111G>A	NCI-TCGA
rs1320733320	p.Ala386Thr	missense variant	-	NC_000009.12:g.6595119C>T	gnomAD
rs1383581989	p.Ala386Val	missense variant	-	NC_000009.12:g.6595118G>A	gnomAD
rs746083772	p.Leu387Val	missense variant	-	NC_000009.12:g.6595116G>C	ExAC,gnomAD
rs746083772	p.Leu387Phe	missense variant	-	NC_000009.12:g.6595116G>A	ExAC,gnomAD
rs121964979	p.Ala389Glu	missense variant	-	NC_000009.12:g.6595109G>T	ESP,ExAC,TOPMed,gnomAD
rs121964979	p.Ala389Val	missense variant	-	NC_000009.12:g.6595109G>A	ESP,ExAC,TOPMed,gnomAD
RCV000482511	p.Ala389Val	missense variant	-	NC_000009.12:g.6595109G>A	ClinVar
rs1167275737	p.Asn390His	missense variant	-	NC_000009.12:g.6595107T>G	gnomAD
rs1448869197	p.Met391Val	missense variant	-	NC_000009.12:g.6595104T>C	gnomAD
rs754883123	p.Met391Thr	missense variant	-	NC_000009.12:g.6595103A>G	ExAC,gnomAD
rs753719536	p.Ala392Thr	missense variant	-	NC_000009.12:g.6595101C>T	ExAC,gnomAD
RCV000049448	p.Ala392Ter	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6595100del	ClinVar
rs199537737	p.Ala393Gly	missense variant	-	NC_000009.12:g.6595097G>C	ExAC,gnomAD
rs760240698	p.Met394Leu	missense variant	-	NC_000009.12:g.6595095T>G	ExAC,TOPMed,gnomAD
rs750059059	p.Met394Lys	missense variant	-	NC_000009.12:g.6595094A>T	ExAC
rs760240698	p.Met394Val	missense variant	-	NC_000009.12:g.6595095T>C	ExAC,TOPMed,gnomAD
rs1249681861	p.Met394Ile	missense variant	-	NC_000009.12:g.6595093C>T	TOPMed
rs767200188	p.Phe395Val	missense variant	-	NC_000009.12:g.6595092A>C	ExAC
rs767200188	p.Phe395Leu	missense variant	-	NC_000009.12:g.6595092A>G	ExAC
RCV000670162	p.Phe395Leu	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6595092A>G	ClinVar
rs1049414112	p.Ala396Val	missense variant	-	NC_000009.12:g.6595088G>A	gnomAD
rs1049414112	p.Ala396Glu	missense variant	-	NC_000009.12:g.6595088G>T	gnomAD
rs761405105	p.Ile397Asn	missense variant	-	NC_000009.12:g.6595085A>T	ExAC,TOPMed,gnomAD
rs1472408730	p.Ile397Val	missense variant	-	NC_000009.12:g.6595086T>C	TOPMed
rs774729912	p.Tyr398Ser	missense variant	-	NC_000009.12:g.6595082T>G	ExAC,gnomAD
rs1226098656	p.Tyr398Ter	stop gained	-	NC_000009.12:g.6595081G>T	gnomAD
RCV000670150	p.Tyr398Ter	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6595081G>T	ClinVar
rs1297392549	p.His399Arg	missense variant	-	NC_000009.12:g.6595079T>C	TOPMed,gnomAD
COSM3780041	p.Ser401Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6595073G>A	NCI-TCGA Cosmic
COSM3716326	p.Ser401Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6595073G>T	NCI-TCGA Cosmic
rs776207334	p.His402Gln	missense variant	-	NC_000009.12:g.6595069A>T	ExAC
rs763451428	p.His402Leu	missense variant	-	NC_000009.12:g.6595070T>A	ExAC,TOPMed,gnomAD
rs763451428	p.His402Arg	missense variant	-	NC_000009.12:g.6595070T>C	ExAC,TOPMed,gnomAD
rs763451428	p.His402Pro	missense variant	-	NC_000009.12:g.6595070T>G	ExAC,TOPMed,gnomAD
rs1340780517	p.His402Tyr	missense variant	-	NC_000009.12:g.6595071G>A	gnomAD
rs769971731	p.Gly403Trp	missense variant	-	NC_000009.12:g.6595068C>A	ExAC,gnomAD
rs745985295	p.Gly403Glu	missense variant	-	NC_000009.12:g.6595067C>T	ExAC,gnomAD
rs781450542	p.Leu404Val	missense variant	-	NC_000009.12:g.6595065G>C	ExAC,TOPMed,gnomAD
rs1387648444	p.Glu405Gly	missense variant	-	NC_000009.12:g.6595061T>C	gnomAD
rs1443091138	p.His406Asn	missense variant	-	NC_000009.12:g.6595059G>T	TOPMed,gnomAD
rs1306671848	p.Ile407Val	missense variant	-	NC_000009.12:g.6595056T>C	gnomAD
rs747206264	p.Ala408Val	missense variant	-	NC_000009.12:g.6595052G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala408Asp	missense variant	-	NC_000009.12:g.6595052G>T	NCI-TCGA
COSM3926863	p.Arg409Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6595050T>A	NCI-TCGA Cosmic
rs778700604	p.Arg409Ser	missense variant	-	NC_000009.12:g.6595048C>G	ExAC,gnomAD
RCV000299139	p.Arg410Lys	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6595046C>T	ClinVar
rs780018765	p.Arg410Ser	missense variant	-	NC_000009.12:g.6595045C>A	ExAC,TOPMed,gnomAD
rs144090917	p.Arg410Lys	missense variant	-	NC_000009.12:g.6595046C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144090917	p.Arg410Thr	missense variant	-	NC_000009.12:g.6595046C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1377345819	p.Val411Ile	missense variant	-	NC_000009.12:g.6595044C>T	gnomAD
rs755595064	p.His412Gln	missense variant	-	NC_000009.12:g.6595039A>T	ExAC,gnomAD
rs1294232438	p.His412Leu	missense variant	-	NC_000009.12:g.6595040T>A	gnomAD
NCI-TCGA novel	p.His412IlePheSerTerUnk	frameshift	-	NC_000009.12:g.6595042T>-	NCI-TCGA
rs749897689	p.Asn413Tyr	missense variant	-	NC_000009.12:g.6595038T>A	ExAC,TOPMed,gnomAD
rs767038871	p.Ala414Thr	missense variant	-	NC_000009.12:g.6595035C>T	ExAC,gnomAD
rs1040825750	p.Thr415Ser	missense variant	-	NC_000009.12:g.6595031G>C	gnomAD
rs940157961	p.Leu418Phe	missense variant	-	NC_000009.12:g.6595021C>G	gnomAD
rs1227030484	p.Ser419Ter	stop gained	-	NC_000009.12:g.6595019G>C	TOPMed
rs751178133	p.Glu420Gln	missense variant	-	NC_000009.12:g.6595017C>G	ExAC,gnomAD
rs1339899747	p.Gly421Asp	missense variant	-	NC_000009.12:g.6592990C>T	gnomAD
rs1554647026	p.Leu422Ile	missense variant	-	NC_000009.12:g.6592988G>T	-
RCV000670629	p.Leu422Ile	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6592988G>T	ClinVar
rs140307095	p.Lys423Arg	missense variant	-	NC_000009.12:g.6592984T>C	ESP,ExAC
RCV000049449	p.Arg424Ter	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6592982G>A	ClinVar
rs386833521	p.Arg424Ter	stop gained	-	NC_000009.12:g.6592982G>A	ExAC,TOPMed,gnomAD
rs1158717915	p.Gln428His	missense variant	-	NC_000009.12:g.6592968T>G	TOPMed,gnomAD
rs760051537	p.Leu429Phe	missense variant	-	NC_000009.12:g.6592967G>A	ExAC,gnomAD
RCV000049450	p.Leu429Ter	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6592966_6592967insTTTG	ClinVar
rs1408480389	p.Gln430His	missense variant	-	NC_000009.12:g.6592962C>G	gnomAD
rs1471796607	p.His431Arg	missense variant	-	NC_000009.12:g.6592960T>C	gnomAD
rs777341114	p.His431Tyr	missense variant	-	NC_000009.12:g.6592961G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp432Tyr	missense variant	-	NC_000009.12:g.6592958C>A	NCI-TCGA
rs760713573	p.Leu433Arg	missense variant	-	NC_000009.12:g.6592954A>C	ExAC,gnomAD
COSM1109550	p.Phe434Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6592950G>T	NCI-TCGA Cosmic
rs1265788933	p.Phe434Ser	missense variant	-	NC_000009.12:g.6592951A>G	gnomAD
rs1207723641	p.Phe435Leu	missense variant	-	NC_000009.12:g.6592949A>G	gnomAD
rs1230188107	p.Asp436Asn	missense variant	-	NC_000009.12:g.6592946C>T	TOPMed
COSM1314874	p.Asp436His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6592946C>G	NCI-TCGA Cosmic
rs1286813560	p.Leu438Phe	missense variant	-	NC_000009.12:g.6592938C>G	gnomAD
rs151163582	p.Lys439Asn	missense variant	-	NC_000009.12:g.6592935C>A	ESP,ExAC,TOPMed,gnomAD
RCV000049451	p.Ile440Asn	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6592933A>T	ClinVar
rs1356340685	p.Ile440Met	missense variant	-	NC_000009.12:g.6592932A>C	gnomAD
rs386833523	p.Ile440Asn	missense variant	-	NC_000009.12:g.6592933A>T	-
rs1062458	p.Gln441His	missense variant	-	NC_000009.12:g.6592929C>A	ExAC,gnomAD
rs1062458	p.Gln441His	missense variant	-	NC_000009.12:g.6592929C>G	ExAC,gnomAD
rs772148721	p.Gln441Glu	missense variant	-	NC_000009.12:g.6592931G>C	ExAC,gnomAD
rs769583276	p.Gly443Asp	missense variant	-	NC_000009.12:g.6592924C>T	ExAC,TOPMed
rs142099123	p.Cys444Tyr	missense variant	-	NC_000009.12:g.6592921C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000541448	p.Cys444Tyr	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6592921C>T	ClinVar
rs756770984	p.Ser445Pro	missense variant	-	NC_000009.12:g.6592919A>G	ExAC
rs746461979	p.Val446Ala	missense variant	-	NC_000009.12:g.6592915A>G	ExAC,TOPMed,gnomAD
rs1161073883	p.Lys447Met	missense variant	-	NC_000009.12:g.6592912T>A	gnomAD
rs777365335	p.Glu448Gln	missense variant	-	NC_000009.12:g.6592910C>G	ExAC,TOPMed,gnomAD
rs758064858	p.Glu448Asp	missense variant	-	NC_000009.12:g.6592908C>A	ExAC,gnomAD
rs1051937256	p.Glu448Gly	missense variant	-	NC_000009.12:g.6592909T>C	gnomAD
rs777365335	p.Glu448Ter	stop gained	-	NC_000009.12:g.6592910C>A	ExAC,TOPMed,gnomAD
RCV000669887	p.Glu448Ter	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6592910C>A	ClinVar
rs1421944290	p.Val449Ala	missense variant	-	NC_000009.12:g.6592906A>G	TOPMed
rs752401089	p.Leu450Phe	missense variant	-	NC_000009.12:g.6592902C>G	ExAC
rs765688819	p.Gly451Val	missense variant	-	NC_000009.12:g.6592900C>A	ExAC,gnomAD
rs754371399	p.Arg452Lys	missense variant	-	NC_000009.12:g.6592897C>T	ExAC,gnomAD
rs1057515607	p.Ala453Ser	missense variant	-	NC_000009.12:g.6592895C>A	-
RCV000390576	p.Ala453Ser	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6592895C>A	ClinVar
rs761279734	p.Ala454Thr	missense variant	-	NC_000009.12:g.6592892C>T	ExAC,TOPMed,gnomAD
rs761279734	p.Ala454Pro	missense variant	-	NC_000009.12:g.6592892C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala454Ser	missense variant	-	NC_000009.12:g.6592892C>A	NCI-TCGA
rs1451402874	p.Gln455His	missense variant	-	NC_000009.12:g.6592887C>G	gnomAD
rs767652664	p.Arg456Gln	missense variant	-	NC_000009.12:g.6592885C>T	ExAC,TOPMed,gnomAD
rs773119895	p.Arg456Trp	missense variant	-	NC_000009.12:g.6592886G>A	ExAC,TOPMed,gnomAD
rs932101631	p.Ile458Phe	missense variant	-	NC_000009.12:g.6592880T>A	TOPMed
RCV000049452	p.Arg461Gln	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6592870C>T	ClinVar
RCV000667293	p.Arg461Trp	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6592871G>A	ClinVar
rs386833524	p.Arg461Gln	missense variant	-	NC_000009.12:g.6592870C>T	ExAC,gnomAD
rs761957837	p.Arg461Trp	missense variant	-	NC_000009.12:g.6592871G>A	ExAC,gnomAD
rs761957837	p.Arg461Trp	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6592871G>A	UniProt,dbSNP
VAR_078782	p.Arg461Trp	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6592871G>A	UniProt
rs73400312	p.Leu462Ile	missense variant	-	NC_000009.12:g.6592868G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776518965	p.Leu462Arg	missense variant	-	NC_000009.12:g.6592867A>C	ExAC,TOPMed,gnomAD
rs73400312	p.Leu462Val	missense variant	-	NC_000009.12:g.6592868G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000711813	p.Leu462Val	missense variant	-	NC_000009.12:g.6592868G>C	ClinVar
rs1319956650	p.Phe463Leu	missense variant	-	NC_000009.12:g.6592865A>G	TOPMed
rs770724054	p.Gly466Asp	missense variant	-	NC_000009.12:g.6592855C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly466Cys	missense variant	-	NC_000009.12:g.6592856C>A	NCI-TCGA
rs1037835616	p.Gly466Ser	missense variant	-	NC_000009.12:g.6592856C>T	TOPMed
rs777078850	p.Thr467Arg	missense variant	-	NC_000009.12:g.6592852G>C	ExAC,gnomAD
rs1378733033	p.Thr467Pro	missense variant	-	NC_000009.12:g.6592853T>G	gnomAD
rs756569757	p.Leu468Phe	missense variant	-	NC_000009.12:g.6592223G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ile470Leu	missense variant	-	NC_000009.12:g.6592217T>G	NCI-TCGA
RCV000517504	p.Glu474Lys	missense variant	-	NC_000009.12:g.6592205C>T	ClinVar
rs1554646962	p.Glu474Lys	missense variant	-	NC_000009.12:g.6592205C>T	-
rs750883330	p.Thr475Ile	missense variant	-	NC_000009.12:g.6592201G>A	ExAC,TOPMed,gnomAD
RCV000311863	p.Thr475Ile	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6592201G>A	ClinVar
NCI-TCGA novel	p.Val476Ala	missense variant	-	NC_000009.12:g.6592198A>G	NCI-TCGA
rs372136194	p.Asn477Ser	missense variant	-	NC_000009.12:g.6592195T>C	ESP,ExAC,TOPMed,gnomAD
rs372136194	p.Asn477Ile	missense variant	-	NC_000009.12:g.6592195T>A	ESP,ExAC,TOPMed,gnomAD
rs1332097221	p.Glu478Ter	stop gained	-	NC_000009.12:g.6592193C>A	TOPMed
rs751588571	p.Glu478Gly	missense variant	-	NC_000009.12:g.6592192T>C	ExAC,TOPMed,gnomAD
rs751588571	p.Glu478Ala	missense variant	-	NC_000009.12:g.6592192T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp480ArgPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.6592187_6592188insT	NCI-TCGA
rs764170083	p.Leu481Val	missense variant	-	NC_000009.12:g.6592184G>C	ExAC,gnomAD
rs201147701	p.Asp482Glu	missense variant	-	NC_000009.12:g.6592179G>C	ExAC,TOPMed,gnomAD
RCV000049454	p.Asp482Ter	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6592182dup	ClinVar
NCI-TCGA novel	p.Asp482Tyr	missense variant	-	NC_000009.12:g.6592181C>A	NCI-TCGA
rs753029511	p.Asp483Tyr	missense variant	-	NC_000009.12:g.6592178C>A	ExAC,TOPMed,gnomAD
rs753029511	p.Asp483Asn	missense variant	-	NC_000009.12:g.6592178C>T	ExAC,TOPMed,gnomAD
rs766071661	p.Leu484Phe	missense variant	-	NC_000009.12:g.6592173C>A	ExAC,TOPMed,gnomAD
rs1406438579	p.Leu485Phe	missense variant	-	NC_000009.12:g.6592170C>A	gnomAD
rs1178162086	p.Trp486Cys	missense variant	-	NC_000009.12:g.6592167C>G	gnomAD
rs767519430	p.Gly489Ala	missense variant	-	NC_000009.12:g.6592159C>G	ExAC,gnomAD
rs767519430	p.Gly489Asp	missense variant	-	NC_000009.12:g.6592159C>T	ExAC,gnomAD
rs773250428	p.Gly489Cys	missense variant	-	NC_000009.12:g.6592160C>A	ExAC,gnomAD
rs1183108459	p.Cys490Trp	missense variant	-	NC_000009.12:g.6592155A>C	gnomAD
rs1233674671	p.Cys490Tyr	missense variant	-	NC_000009.12:g.6592156C>T	TOPMed
rs761867336	p.Glu491Asp	missense variant	-	NC_000009.12:g.6592152C>G	ExAC,gnomAD
rs1315965351	p.Ser492Leu	missense variant	-	NC_000009.12:g.6592150G>A	TOPMed
rs773943678	p.Ser492Thr	missense variant	-	NC_000009.12:g.6592151A>T	ExAC,TOPMed,gnomAD
rs1197486727	p.Ser493Phe	missense variant	-	NC_000009.12:g.6592147G>A	TOPMed
RCV000638276	p.Glu495Gln	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6589292C>G	ClinVar
rs1554646734	p.Glu495Gln	missense variant	-	NC_000009.12:g.6589292C>G	-
rs778298825	p.Leu496Pro	missense variant	-	NC_000009.12:g.6589288A>G	ExAC,gnomAD
rs1389059785	p.Val497Phe	missense variant	-	NC_000009.12:g.6589286C>A	gnomAD
rs758374339	p.Ala498Thr	missense variant	-	NC_000009.12:g.6589283C>T	ExAC,gnomAD
COSM74754	p.Ala498Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6589283C>G	NCI-TCGA Cosmic
rs748216955	p.Met501Val	missense variant	-	NC_000009.12:g.6589274T>C	ExAC,gnomAD
rs368393226	p.Gly502Ala	missense variant	-	NC_000009.12:g.6589270C>G	ESP,ExAC,TOPMed,gnomAD
rs368393226	p.Gly502Val	missense variant	-	NC_000009.12:g.6589270C>A	ESP,ExAC,TOPMed,gnomAD
rs201890453	p.Glu503Ala	missense variant	-	NC_000009.12:g.6589267T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1195606936	p.Glu503Asp	missense variant	-	NC_000009.12:g.6589266C>A	gnomAD
RCV000638288	p.Glu503Ala	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6589267T>G	ClinVar
rs1038321056	p.Glu504Gln	missense variant	-	NC_000009.12:g.6589265C>G	TOPMed,gnomAD
rs373917341	p.Cys505Tyr	missense variant	-	NC_000009.12:g.6589261C>T	ESP,TOPMed
rs754119942	p.Arg506Thr	missense variant	-	NC_000009.12:g.6589258C>G	ExAC,TOPMed,gnomAD
RCV000638277	p.Arg506Thr	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6589258C>G	ClinVar
rs1229101372	p.Gly507Arg	missense variant	-	NC_000009.12:g.6589256C>G	gnomAD
rs766029500	p.Gly507Asp	missense variant	-	NC_000009.12:g.6589255C>T	gnomAD
rs557412758	p.Pro509Ala	missense variant	-	NC_000009.12:g.6589250G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs557412758	p.Pro509Ser	missense variant	-	NC_000009.12:g.6589250G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000554267	p.Pro509Ala	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6589250G>C	ClinVar
rs1338200936	p.Ser511Cys	missense variant	-	NC_000009.12:g.6589243G>C	gnomAD
rs751521889	p.Val512Leu	missense variant	-	NC_000009.12:g.6589241C>G	ExAC,gnomAD
rs762831617	p.Phe513Leu	missense variant	-	NC_000009.12:g.6589236G>C	ExAC,TOPMed,gnomAD
rs565333481	p.Lys514Asn	missense variant	-	NC_000009.12:g.6589233C>G	1000Genomes,ExAC,gnomAD
rs121964976	p.Arg515Ser	missense variant	-	NC_000009.12:g.6589230C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs121964976	p.Arg515Ser	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6589230C>G	UniProt,dbSNP
VAR_016851	p.Arg515Ser	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6589230C>G	UniProt
RCV000449527	p.Arg515Ser	missense variant	Obesity (EO Obesity)	NC_000009.12:g.6589230C>G	ClinVar
NCI-TCGA novel	p.Arg515Met	missense variant	-	NC_000009.12:g.6589231C>A	NCI-TCGA
rs1368071318	p.Ser517Asn	missense variant	-	NC_000009.12:g.6589225C>T	gnomAD
rs761064507	p.Pro518Arg	missense variant	-	NC_000009.12:g.6589222G>C	ExAC,TOPMed,gnomAD
rs761064507	p.Pro518Gln	missense variant	-	NC_000009.12:g.6589222G>T	ExAC,TOPMed,gnomAD
rs761064507	p.Pro518Leu	missense variant	-	NC_000009.12:g.6589222G>A	ExAC,TOPMed,gnomAD
rs776323083	p.Pro518Ala	missense variant	-	NC_000009.12:g.6589223G>C	ExAC,TOPMed,gnomAD
RCV000350697	p.Pro518Gln	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6589222G>T	ClinVar
COSM1109548	p.Phe519Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6589220A>G	NCI-TCGA Cosmic
rs1464777902	p.Thr521Ser	missense variant	-	NC_000009.12:g.6589214T>A	gnomAD
rs199711131	p.Gln523Glu	missense variant	-	NC_000009.12:g.6589208G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs751362463	p.Val524Met	missense variant	-	NC_000009.12:g.6589205C>T	ExAC,TOPMed,gnomAD
rs751362463	p.Val524Leu	missense variant	-	NC_000009.12:g.6589205C>G	ExAC,TOPMed,gnomAD
RCV000673924	p.Val524Leu	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6589205C>G	ClinVar
rs1273154402	p.Asn526Ser	missense variant	-	NC_000009.12:g.6589198T>C	gnomAD
rs898444750	p.Asn526His	missense variant	-	NC_000009.12:g.6589199T>G	TOPMed,gnomAD
rs758288549	p.Ser527Arg	missense variant	-	NC_000009.12:g.6589196T>G	ExAC,TOPMed,gnomAD
RCV000704561	p.Ser527Thr	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6589195C>G	ClinVar
rs758288549	p.Ser527Gly	missense variant	-	NC_000009.12:g.6589196T>C	ExAC,TOPMed,gnomAD
rs1247180998	p.Ser527Asn	missense variant	-	NC_000009.12:g.6589195C>T	TOPMed
rs770064608	p.His529Tyr	missense variant	-	NC_000009.12:g.6588698G>A	ExAC,gnomAD
rs386833527	p.Thr532Arg	missense variant	-	NC_000009.12:g.6588688G>C	gnomAD
RCV000049455	p.Thr532Arg	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6588688G>C	ClinVar
rs386833527	p.Thr532Ile	missense variant	-	NC_000009.12:g.6588688G>A	gnomAD
rs746088689	p.Thr532Ala	missense variant	-	NC_000009.12:g.6588689T>C	ExAC,TOPMed,gnomAD
rs200280793	p.Asn533Ser	missense variant	-	NC_000009.12:g.6588685T>C	1000Genomes,ExAC,gnomAD
rs386833528	p.Asn533Tyr	missense variant	-	NC_000009.12:g.6588686T>A	-
RCV000049456	p.Asn533Tyr	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6588686T>A	ClinVar
rs1472951334	p.Ile534Val	missense variant	-	NC_000009.12:g.6588683T>C	gnomAD
rs201758383	p.Ile534Met	missense variant	-	NC_000009.12:g.6588681A>C	1000Genomes,ExAC,gnomAD
rs1286882965	p.Arg536Trp	missense variant	-	NC_000009.12:g.6588677G>A	TOPMed,gnomAD
RCV000670145	p.Arg536Trp	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6588677G>A	ClinVar
rs747853668	p.Arg536Gln	missense variant	-	NC_000009.12:g.6588676C>T	ExAC,gnomAD
rs1190799364	p.Tyr537Cys	missense variant	-	NC_000009.12:g.6588673T>C	TOPMed,gnomAD
rs778697867	p.Met538Ile	missense variant	-	NC_000009.12:g.6588669C>T	ExAC,gnomAD
rs778697867	p.Met538Ile	missense variant	-	NC_000009.12:g.6588669C>G	ExAC,gnomAD
rs950763757	p.Met538Leu	missense variant	-	NC_000009.12:g.6588671T>A	TOPMed,gnomAD
NCI-TCGA novel	p.Met538Thr	missense variant	-	NC_000009.12:g.6588670A>G	NCI-TCGA
RCV000544389	p.Lys540Gln	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6588665T>G	ClinVar
rs140516872	p.Lys540Gln	missense variant	-	NC_000009.12:g.6588665T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749226070	p.Lys540Asn	missense variant	-	NC_000009.12:g.6588663T>A	ExAC,gnomAD
rs755682957	p.Asn543Ser	missense variant	-	NC_000009.12:g.6588655T>C	ExAC,gnomAD
rs1248573767	p.Asp545His	missense variant	-	NC_000009.12:g.6588650C>G	gnomAD
rs1320151906	p.Ser547Cys	missense variant	-	NC_000009.12:g.6588643G>C	gnomAD
RCV000694987	p.Ser547Cys	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6588643G>C	ClinVar
rs1554646653	p.Leu548Val	missense variant	-	NC_000009.12:g.6588641G>C	-
RCV000666420	p.Leu548Val	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6588641G>C	ClinVar
VAR_078783	p.Leu548Pro	Missense	Non-ketotic hyperglycinemia (NKH) [MIM:605899]	-	UniProt
rs767119933	p.His550Tyr	missense variant	-	NC_000009.12:g.6588635G>A	ExAC,gnomAD
NCI-TCGA novel	p.His550Arg	missense variant	-	NC_000009.12:g.6588634T>C	NCI-TCGA
rs751822565	p.Ser551Ile	missense variant	-	NC_000009.12:g.6588631C>A	ExAC,TOPMed,gnomAD
RCV000670627	p.Ser551Ile	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6588631C>A	ClinVar
RCV000049457	p.Met552Val	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6588629T>C	ClinVar
rs386833529	p.Met552Val	missense variant	-	NC_000009.12:g.6588629T>C	-
rs763489615	p.Ile553Met	missense variant	-	NC_000009.12:g.6588624A>C	ExAC,TOPMed,gnomAD
rs764568781	p.Ile553Val	missense variant	-	NC_000009.12:g.6588626T>C	ExAC,gnomAD
rs1244239144	p.Pro554Leu	missense variant	-	NC_000009.12:g.6588622G>A	gnomAD
NCI-TCGA novel	p.Pro554Ser	missense variant	-	NC_000009.12:g.6588623G>A	NCI-TCGA
rs765384489	p.Leu555Arg	missense variant	-	NC_000009.12:g.6588619A>C	ExAC,gnomAD
rs1222330596	p.Leu555Met	missense variant	-	NC_000009.12:g.6588620G>T	TOPMed
RCV000670183	p.Leu555Arg	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6588619A>C	ClinVar
COSM3657735	p.Ser557Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6588438G>A	NCI-TCGA Cosmic
RCV000674854	p.Thr559Asn	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6588432G>T	ClinVar
rs1554646634	p.Thr559Asn	missense variant	-	NC_000009.12:g.6588432G>T	-
rs1366947118	p.Met560Thr	missense variant	-	NC_000009.12:g.6588429A>G	TOPMed
rs1179181116	p.Asn563Ser	missense variant	-	NC_000009.12:g.6588420T>C	TOPMed,gnomAD
rs121964974	p.Ser564Ile	missense variant	-	NC_000009.12:g.6588417C>A	ESP,ExAC,TOPMed,gnomAD
rs121964974	p.Ser564Ile	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6588417C>A	UniProt,dbSNP
VAR_004979	p.Ser564Ile	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6588417C>A	UniProt
RCV000012762	p.Ser564Ile	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6588417C>A	ClinVar
COSM2777858	p.Ser565Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6588414G>A	NCI-TCGA Cosmic
rs775299911	p.Ser566Tyr	missense variant	-	NC_000009.12:g.6588411G>T	ExAC,gnomAD
rs769569710	p.Glu567Val	missense variant	-	NC_000009.12:g.6588408T>A	ExAC,gnomAD
rs760181670	p.Leu568Ile	missense variant	-	NC_000009.12:g.6588406G>T	ExAC,gnomAD
rs760181670	p.Leu568Val	missense variant	-	NC_000009.12:g.6588406G>C	ExAC,gnomAD
rs151268759	p.Ala569Pro	missense variant	-	NC_000009.12:g.6588403C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000224411	p.Ala569Thr	missense variant	-	NC_000009.12:g.6588403C>T	ClinVar
rs151268759	p.Ala569Thr	missense variant	-	NC_000009.12:g.6588403C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1263586630	p.Ala569Val	missense variant	-	NC_000009.12:g.6588402G>A	gnomAD
rs151268759	p.Ala569Ser	missense variant	-	NC_000009.12:g.6588403C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000454365	p.Ala569Thr	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6588403C>T	ClinVar
rs1289915951	p.Pro570Ala	missense variant	-	NC_000009.12:g.6587283G>C	gnomAD
rs1219543564	p.Pro570His	missense variant	-	NC_000009.12:g.6587282G>T	TOPMed
rs1363760657	p.Ile571Met	missense variant	-	NC_000009.12:g.6587278G>C	gnomAD
rs1488639676	p.Ile571Val	missense variant	-	NC_000009.12:g.6587280T>C	TOPMed
rs1445325190	p.Thr572Lys	missense variant	-	NC_000009.12:g.6587276G>T	gnomAD
rs1163069098	p.Thr572Ala	missense variant	-	NC_000009.12:g.6587277T>C	gnomAD
COSM1109546	p.Trp573Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6587274A>G	NCI-TCGA Cosmic
rs959935793	p.Trp573Ter	stop gained	-	NC_000009.12:g.6587273C>T	TOPMed
RCV000638284	p.Lys574Asn	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6587269T>G	ClinVar
rs1554646530	p.Lys574Asn	missense variant	-	NC_000009.12:g.6587269T>G	-
rs1554646529	p.Glu575Ter	stop gained	-	NC_000009.12:g.6587268C>A	-
RCV000760511	p.Glu575Ter	nonsense	-	NC_000009.12:g.6587268C>A	ClinVar
rs1406303232	p.Glu575Gly	missense variant	-	NC_000009.12:g.6587267T>C	TOPMed
rs1439416948	p.Ala577Gly	missense variant	-	NC_000009.12:g.6587261G>C	TOPMed
rs1034614089	p.Asn578Lys	missense variant	-	NC_000009.12:g.6587257G>C	TOPMed,gnomAD
rs770315107	p.Asn578His	missense variant	-	NC_000009.12:g.6587259T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile579Met	missense variant	-	NC_000009.12:g.6587254G>C	NCI-TCGA
rs1164241828	p.His580Asp	missense variant	-	NC_000009.12:g.6587253G>C	TOPMed
RCV000664595	p.His580Asp	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6587253G>C	ClinVar
VAR_078784	p.His580Tyr	Missense	Non-ketotic hyperglycinemia (NKH) [MIM:605899]	-	UniProt
RCV000198720	p.Pro581Arg	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6587249G>C	ClinVar
rs772871471	p.Pro581Arg	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6587249G>C	UniProt,dbSNP
VAR_078785	p.Pro581Arg	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6587249G>C	UniProt
rs772871471	p.Pro581Arg	missense variant	-	NC_000009.12:g.6587249G>C	ExAC,gnomAD
rs747803222	p.Phe582Cys	missense variant	-	NC_000009.12:g.6587246A>C	ExAC,gnomAD
COSM6183595	p.Val583Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6587243A>C	NCI-TCGA Cosmic
COSM6115761	p.Pro584Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6587241G>T	NCI-TCGA Cosmic
rs1001664445	p.Pro584Ser	missense variant	-	NC_000009.12:g.6587241G>A	TOPMed
rs779138019	p.Pro584Leu	missense variant	-	NC_000009.12:g.6587240G>A	ExAC,TOPMed,gnomAD
RCV000439392	p.Pro584Ser	missense variant	-	NC_000009.12:g.6587241G>A	ClinVar
rs767055450	p.Leu585Pro	missense variant	-	NC_000009.12:g.6587237A>G	TOPMed,gnomAD
rs749739535	p.Leu585Val	missense variant	-	NC_000009.12:g.6587238G>C	ExAC,gnomAD
rs749739535	p.Leu585Met	missense variant	-	NC_000009.12:g.6587238G>T	ExAC,gnomAD
rs1309899108	p.Asp586Gly	missense variant	-	NC_000009.12:g.6587234T>C	TOPMed
rs1042809307	p.Asp586Tyr	missense variant	-	NC_000009.12:g.6587235C>A	TOPMed
rs1296797567	p.Gln587Glu	missense variant	-	NC_000009.12:g.6587232G>C	gnomAD
NCI-TCGA novel	p.Gln587Ter	stop gained	-	NC_000009.12:g.6587232G>A	NCI-TCGA
rs780654157	p.Ala588Pro	missense variant	-	NC_000009.12:g.6587229C>G	ExAC,gnomAD
COSM3657734	p.Gly590Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6587222C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly590Val	missense variant	-	NC_000009.12:g.6587222C>A	NCI-TCGA
rs767598576	p.Gln592Arg	missense variant	-	NC_000009.12:g.6587216T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln592His	missense variant	-	NC_000009.12:g.6587215C>G	NCI-TCGA
rs751877218	p.Gln593His	missense variant	-	NC_000009.12:g.6587212C>G	ExAC,TOPMed,gnomAD
rs757405616	p.Gln593Glu	missense variant	-	NC_000009.12:g.6587214G>C	ExAC,gnomAD
rs757405616	p.Gln593Lys	missense variant	-	NC_000009.12:g.6587214G>T	ExAC,gnomAD
rs201997592	p.Phe595Leu	missense variant	-	NC_000009.12:g.6587206G>C	ESP,ExAC,TOPMed,gnomAD
RCV000049459	p.Arg596Ter	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6587205G>A	ClinVar
rs573132323	p.Arg596Gln	missense variant	-	NC_000009.12:g.6587204C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs386833531	p.Arg596Ter	stop gained	-	NC_000009.12:g.6587205G>A	ExAC,TOPMed,gnomAD
rs141875337	p.Glu597Asp	missense variant	-	NC_000009.12:g.6587200C>G	ESP,ExAC,TOPMed,gnomAD
rs141875337	p.Glu597Asp	missense variant	-	NC_000009.12:g.6587200C>A	ESP,ExAC,TOPMed,gnomAD
rs1179590305	p.Glu599Ter	stop gained	-	NC_000009.12:g.6587196C>A	TOPMed
NCI-TCGA novel	p.Lys600Asn	missense variant	-	NC_000009.12:g.6587191C>A	NCI-TCGA
NCI-TCGA novel	p.Leu602Val	missense variant	-	NC_000009.12:g.6587187A>C	NCI-TCGA
rs1198628246	p.Cys603Trp	missense variant	-	NC_000009.12:g.6587182A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Glu604Gly	missense variant	-	NC_000009.12:g.6587180T>C	NCI-TCGA
rs772777667	p.Thr606Ile	missense variant	-	NC_000009.12:g.6587174G>A	ExAC,gnomAD
rs1554646517	p.Gly607Ser	missense variant	-	NC_000009.12:g.6587172C>T	-
RCV000672824	p.Gly607Ser	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6587172C>T	ClinVar
rs753232919	p.Tyr608Cys	missense variant	-	NC_000009.12:g.6587168T>C	-
rs1163159065	p.Tyr608Asp	missense variant	-	NC_000009.12:g.6587169A>C	TOPMed
RCV000049460	p.Tyr608Ter	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6587164_6587174del	ClinVar
rs1407108124	p.Asp609Gly	missense variant	-	NC_000009.12:g.6587165T>C	TOPMed
rs1251538998	p.Gln610Ter	stop gained	-	NC_000009.12:g.6587163G>A	gnomAD
rs1251538998	p.Gln610Glu	missense variant	-	NC_000009.12:g.6587163G>C	gnomAD
RCV000049461	p.Val611Gly	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6587159A>C	ClinVar
RCV000516531	p.Val611Leu	missense variant	-	NC_000009.12:g.6587160C>G	ClinVar
rs386833533	p.Val611Gly	missense variant	-	NC_000009.12:g.6587159A>C	-
rs1554646513	p.Val611Leu	missense variant	-	NC_000009.12:g.6587160C>G	-
rs1220787758	p.Cys612Gly	missense variant	-	NC_000009.12:g.6587157A>C	gnomAD
rs202191798	p.Phe613Leu	missense variant	-	NC_000009.12:g.6587154A>G	1000Genomes
NCI-TCGA novel	p.Phe613Leu	missense variant	-	NC_000009.12:g.6587152G>T	NCI-TCGA
rs1168647647	p.Gln614Ter	stop gained	-	NC_000009.12:g.6587151G>A	TOPMed
rs777724341	p.Ser617Arg	missense variant	-	NC_000009.12:g.6565429G>T	ExAC,TOPMed,gnomAD
rs747786666	p.Ser617Thr	missense variant	-	NC_000009.12:g.6587141C>G	ExAC,gnomAD
RCV000784898	p.Gly618Glu	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6565427C>T	ClinVar
rs758575745	p.Gly618Arg	missense variant	-	NC_000009.12:g.6565428C>T	ExAC,gnomAD
rs1484183104	p.Gln620Arg	missense variant	-	NC_000009.12:g.6565421T>C	gnomAD
rs1311614683	p.Gly621Ala	missense variant	-	NC_000009.12:g.6565418C>G	TOPMed,gnomAD
rs143653301	p.Ala624Thr	missense variant	-	NC_000009.12:g.6565410C>T	ESP,ExAC,TOPMed
rs779980470	p.Ala624Val	missense variant	-	NC_000009.12:g.6565409G>A	ExAC,TOPMed,gnomAD
rs779980470	p.Ala624Gly	missense variant	-	NC_000009.12:g.6565409G>C	ExAC,TOPMed,gnomAD
RCV000674286	p.Ala624Ter	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6565411_6565412AT[3]	ClinVar
VAR_078786	p.Ala624Asp	Missense	Non-ketotic hyperglycinemia (NKH) [MIM:605899]	-	UniProt
rs756020602	p.Gly625Val	missense variant	-	NC_000009.12:g.6565406C>A	ExAC,gnomAD
rs1400097268	p.Ile629Met	missense variant	-	NC_000009.12:g.6565393G>C	gnomAD
rs761680597	p.Ile629Leu	missense variant	-	NC_000009.12:g.6565395T>G	ExAC,gnomAD
rs761680597	p.Ile629Val	missense variant	-	NC_000009.12:g.6565395T>C	ExAC,gnomAD
rs751025203	p.Arg630Ter	stop gained	-	NC_000009.12:g.6565392G>A	ExAC,gnomAD
rs763517274	p.Arg630Pro	missense variant	-	NC_000009.12:g.6565391C>G	ExAC,TOPMed,gnomAD
rs763517274	p.Arg630Gln	missense variant	-	NC_000009.12:g.6565391C>T	ExAC,TOPMed,gnomAD
RCV000550531	p.Arg630Pro	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6565391C>G	ClinVar
RCV000670170	p.Arg630Ter	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6565392G>A	ClinVar
COSM1462684	p.Ala631Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6565389C>A	NCI-TCGA Cosmic
rs1422219374	p.Ala631Val	missense variant	-	NC_000009.12:g.6565388G>A	gnomAD
NCI-TCGA novel	p.Ala631Thr	missense variant	-	NC_000009.12:g.6565389C>T	NCI-TCGA
rs775184849	p.Tyr632His	missense variant	-	NC_000009.12:g.6565386A>G	ExAC,TOPMed,gnomAD
rs770124547	p.Asn634Lys	missense variant	-	NC_000009.12:g.6565378G>C	ExAC,gnomAD
rs1025920284	p.Gly637Arg	missense variant	-	NC_000009.12:g.6565371C>G	TOPMed
rs759852256	p.Gly637Val	missense variant	-	NC_000009.12:g.6565370C>A	ExAC,gnomAD
rs1488935367	p.Gly639Glu	missense variant	-	NC_000009.12:g.6565364C>T	TOPMed,gnomAD
rs141153261	p.Thr642Lys	missense variant	-	NC_000009.12:g.6565355G>T	ESP,ExAC,TOPMed,gnomAD
rs141153261	p.Thr642Met	missense variant	-	NC_000009.12:g.6565355G>A	ESP,ExAC,TOPMed,gnomAD
rs386833535	p.Cys644Phe	missense variant	-	NC_000009.12:g.6558680C>A	-
RCV000049463	p.Cys644Phe	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6558680C>A	ClinVar
RCV000491317	p.Pro647Leu	missense variant	Smith-Magenis Syndrome-like	NC_000009.12:g.6558671G>A	ClinVar
rs201135624	p.Pro647Leu	missense variant	-	NC_000009.12:g.6558671G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1199541935	p.Lys648Thr	missense variant	-	NC_000009.12:g.6558668T>G	gnomAD
RCV000049464	p.His651Arg	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6558659T>C	ClinVar
rs386833536	p.His651Arg	missense variant	-	NC_000009.12:g.6558659T>C	TOPMed
RCV000430656	p.His651Arg	missense variant	-	NC_000009.12:g.6558659T>C	ClinVar
rs1372622638	p.Thr653Ser	missense variant	-	NC_000009.12:g.6558653G>C	TOPMed
rs1311599421	p.Ala656Thr	missense variant	-	NC_000009.12:g.6558645C>T	gnomAD
RCV000664632	p.Ser657Asn	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6558641C>T	ClinVar
rs1301895668	p.Ser657Asn	missense variant	-	NC_000009.12:g.6558641C>T	gnomAD
rs1220392397	p.Ala658Ser	missense variant	-	NC_000009.12:g.6558639C>A	gnomAD
rs1330236076	p.His659Tyr	missense variant	-	NC_000009.12:g.6558636G>A	gnomAD
rs752141124	p.His659Arg	missense variant	-	NC_000009.12:g.6558635T>C	ExAC,gnomAD
rs764727442	p.Met660Arg	missense variant	-	NC_000009.12:g.6558632A>C	ExAC,TOPMed,gnomAD
rs764727442	p.Met660Thr	missense variant	-	NC_000009.12:g.6558632A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala661Ser	missense variant	-	NC_000009.12:g.6558630C>A	NCI-TCGA
rs386833537	p.Gln666Ter	stop gained	-	NC_000009.12:g.6558615G>A	-
RCV000049465	p.Gln666Ter	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6558615G>A	ClinVar
rs753545868	p.Pro667Leu	missense variant	-	NC_000009.12:g.6558611G>A	ExAC,gnomAD
rs753545868	p.Pro667His	missense variant	-	NC_000009.12:g.6558611G>T	ExAC,gnomAD
rs766743130	p.Val668Leu	missense variant	-	NC_000009.12:g.6558609C>A	ExAC,gnomAD
COSM3848650	p.Glu669Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6558604C>A	NCI-TCGA Cosmic
rs773654767	p.Glu669Asp	missense variant	-	NC_000009.12:g.6558604C>G	ExAC,TOPMed,gnomAD
rs760983899	p.Glu669Lys	missense variant	-	NC_000009.12:g.6558606C>T	ExAC,TOPMed,gnomAD
rs767864486	p.Val670Met	missense variant	-	NC_000009.12:g.6558603C>T	ExAC,TOPMed,gnomAD
rs767864486	p.Val670Leu	missense variant	-	NC_000009.12:g.6558603C>G	ExAC,TOPMed,gnomAD
rs762425284	p.Asp671Glu	missense variant	-	NC_000009.12:g.6558598A>T	ExAC,gnomAD
rs895547481	p.Tyr673Cys	missense variant	-	NC_000009.12:g.6558593T>C	TOPMed
rs749513146	p.Asn675Ser	missense variant	-	NC_000009.12:g.6558587T>C	ExAC,TOPMed,gnomAD
rs749513146	p.Asn675Thr	missense variant	-	NC_000009.12:g.6558587T>G	ExAC,TOPMed,gnomAD
rs372604935	p.Ile676Met	missense variant	-	NC_000009.12:g.6558583G>C	ESP,ExAC,TOPMed,gnomAD
rs758200296	p.Asp677Gly	missense variant	-	NC_000009.12:g.6558581T>C	ExAC,gnomAD
rs758200296	p.Asp677Val	missense variant	-	NC_000009.12:g.6558581T>A	ExAC,gnomAD
rs746744137	p.Asp677Asn	missense variant	-	NC_000009.12:g.6558582C>T	ExAC,gnomAD
rs566453582	p.Ala678Val	missense variant	-	NC_000009.12:g.6558578G>A	1000Genomes,ExAC,gnomAD
rs778376889	p.Val679Ile	missense variant	-	NC_000009.12:g.6558576C>T	ExAC,TOPMed,gnomAD
rs754531832	p.His680Arg	missense variant	-	NC_000009.12:g.6558572T>C	ExAC,gnomAD
rs753457618	p.Leu681Phe	missense variant	-	NC_000009.12:g.6558570G>A	ExAC,TOPMed,gnomAD
rs1446960824	p.Lys682AsnProGlyTerUnk	stop gained	-	NC_000009.12:g.6558565_6558566insCTACCCCGGG	gnomAD
rs1305077560	p.Lys682Met	missense variant	-	NC_000009.12:g.6558566T>A	gnomAD
rs1211401816	p.del682TerThrValIleHisArgProProLeuLeuValSerGluLeuCysUnk	stop gained	-	NC_000009.12:g.6558567_6558568insCACACAACTCACTCACTAACAATGGTGGCCTGTGAATGACTGTCTA	gnomAD
rs1324189699	p.Ala683Gly	missense variant	-	NC_000009.12:g.6558563G>C	TOPMed
rs1452317734	p.Met684Val	missense variant	-	NC_000009.12:g.6558561T>C	gnomAD
rs367988640	p.Val685Leu	missense variant	-	NC_000009.12:g.6556302C>G	ESP,ExAC,TOPMed,gnomAD
rs367988640	p.Val685Leu	missense variant	-	NC_000009.12:g.6556302C>A	ESP,ExAC,TOPMed,gnomAD
rs759659824	p.His688Arg	missense variant	-	NC_000009.12:g.6556292T>C	ExAC,gnomAD
rs376946439	p.His688Tyr	missense variant	-	NC_000009.12:g.6556293G>A	ESP,TOPMed,gnomAD
rs1296691739	p.Lys689Gln	missense variant	-	NC_000009.12:g.6556290T>G	gnomAD
rs200451792	p.Lys689Thr	missense variant	-	NC_000009.12:g.6556289T>G	1000Genomes,gnomAD
rs200451792	p.Lys689Arg	missense variant	-	NC_000009.12:g.6556289T>C	1000Genomes,gnomAD
rs1467058055	p.Asn691Ser	missense variant	-	NC_000009.12:g.6556283T>C	TOPMed
rs1171271917	p.Leu692Val	missense variant	-	NC_000009.12:g.6556281G>C	gnomAD
rs761555221	p.Ala693Gly	missense variant	-	NC_000009.12:g.6556277G>C	ExAC,gnomAD
rs761555221	p.Ala693Val	missense variant	-	NC_000009.12:g.6556277G>A	ExAC,gnomAD
rs386833538	p.Ala694Pro	missense variant	-	NC_000009.12:g.6556275C>G	-
rs780029956	p.Ala694Gly	missense variant	-	NC_000009.12:g.6556274G>C	gnomAD
rs780029956	p.Ala694Val	missense variant	-	NC_000009.12:g.6556274G>A	gnomAD
RCV000669364	p.Ala694Ter	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6556268_6556275del	ClinVar
RCV000049466	p.Ala694Pro	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6556275C>G	ClinVar
rs145547090	p.Ile695Met	missense variant	-	NC_000009.12:g.6556270G>C	ExAC,TOPMed,gnomAD
rs371447782	p.Met696Val	missense variant	-	NC_000009.12:g.6556269T>C	ESP,ExAC,TOPMed,gnomAD
rs1268958687	p.Met696Ile	missense variant	-	NC_000009.12:g.6556267C>T	gnomAD
COSM1462683	p.Thr698Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6556263T>C	NCI-TCGA Cosmic
rs1457571270	p.Thr698Arg	missense variant	-	NC_000009.12:g.6556262G>C	gnomAD
rs769404917	p.Tyr699Asn	missense variant	-	NC_000009.12:g.6556260A>T	ExAC,gnomAD
rs149694787	p.Tyr699Ter	stop gained	-	NC_000009.12:g.6556258G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs386833539	p.Pro700Ala	missense variant	-	NC_000009.12:g.6556257G>C	-
RCV000049467	p.Pro700Ala	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6556257G>C	ClinVar
rs757004829	p.Ser701Phe	missense variant	-	NC_000009.12:g.6556253G>A	ExAC,gnomAD
RCV000049468	p.Thr702Ile	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6556250G>A	ClinVar
rs386833540	p.Thr702Ile	missense variant	-	NC_000009.12:g.6556250G>A	-
rs778298626	p.Asn703Ser	missense variant	-	NC_000009.12:g.6556247T>C	ExAC,gnomAD
rs147275962	p.Val705Met	missense variant	-	NC_000009.12:g.6556242C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000528256	p.Val705Met	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6556242C>T	ClinVar
RCV000711816	p.Val705Met	missense variant	-	NC_000009.12:g.6556242C>T	ClinVar
rs753301368	p.Val705Glu	missense variant	-	NC_000009.12:g.6556241A>T	ExAC,gnomAD
rs978127778	p.Asn709Asp	missense variant	-	NC_000009.12:g.6556230T>C	TOPMed,gnomAD
RCV000673884	p.Asn709Lys	insertion	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6556230_6556232dup	ClinVar
rs978127778	p.Asn709Tyr	missense variant	-	NC_000009.12:g.6556230T>A	TOPMed,gnomAD
rs150943866	p.Asn709Ser	missense variant	-	NC_000009.12:g.6556229T>C	ESP,ExAC,TOPMed,gnomAD
RCV000638270	p.Asn709Ser	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6556229T>C	ClinVar
COSM6183596	p.Ile710Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6556225G>C	NCI-TCGA Cosmic
rs1399902770	p.Ile710Phe	missense variant	-	NC_000009.12:g.6556227T>A	gnomAD
rs1475338150	p.Ser711Asn	missense variant	-	NC_000009.12:g.6556223C>T	gnomAD
rs762761551	p.Asp712Glu	missense variant	-	NC_000009.12:g.6556219G>C	ExAC,TOPMed,gnomAD
rs774067413	p.Val713Ala	missense variant	-	NC_000009.12:g.6556217A>G	ExAC,gnomAD
rs912659426	p.Val713Met	missense variant	-	NC_000009.12:g.6556218C>T	TOPMed,gnomAD
rs762786233	p.Cys714Ser	missense variant	-	NC_000009.12:g.6556215A>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp715Gly	missense variant	-	NC_000009.12:g.6556211T>C	NCI-TCGA
RCV000378657	p.Leu716His	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6556208A>T	ClinVar
rs145018304	p.Leu716His	missense variant	-	NC_000009.12:g.6556208A>T	ESP,ExAC,TOPMed,gnomAD
rs117460214	p.Ile717Val	missense variant	-	NC_000009.12:g.6556206T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746722279	p.Ile717Thr	missense variant	-	NC_000009.12:g.6556205A>G	ExAC,gnomAD
RCV000324125	p.Ile717Val	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6556206T>C	ClinVar
RCV000049469	p.His718LeuLeuValTer	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6556200_6556202delinsTAAACCAGGA	ClinVar
rs1284042082	p.His718Arg	missense variant	-	NC_000009.12:g.6556202T>C	gnomAD
rs386833541	p.HisGln718LeuLeuValTerUnk	stop gained	-	NC_000009.12:g.6556200_6556202delinsTAAACCAGGA	-
rs1239687858	p.Gln719Glu	missense variant	-	NC_000009.12:g.6556200G>C	gnomAD
rs1293153237	p.Gln719Arg	missense variant	-	NC_000009.12:g.6556199T>C	TOPMed
rs1377840004	p.His720Arg	missense variant	-	NC_000009.12:g.6556196T>C	TOPMed,gnomAD
rs778267718	p.His720Tyr	missense variant	-	NC_000009.12:g.6556197G>A	ExAC
rs758841885	p.His720Gln	missense variant	-	NC_000009.12:g.6556195A>C	ExAC,gnomAD
rs1338513782	p.Gly722Arg	missense variant	-	NC_000009.12:g.6556191C>T	TOPMed,gnomAD
rs1338513782	p.Gly722Ter	stop gained	-	NC_000009.12:g.6556191C>A	TOPMed,gnomAD
rs575709546	p.Gln723Leu	missense variant	-	NC_000009.12:g.6556187T>A	1000Genomes,ExAC,gnomAD
rs779434645	p.Gln723Glu	missense variant	-	NC_000009.12:g.6556188G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln723His	missense variant	-	NC_000009.12:g.6556186C>A	NCI-TCGA
rs779434645	p.Gln723Ter	stop gained	-	NC_000009.12:g.6556188G>A	ExAC,gnomAD
rs1418580025	p.Tyr725Phe	missense variant	-	NC_000009.12:g.6556181T>A	gnomAD
rs1156235303	p.Tyr725His	missense variant	-	NC_000009.12:g.6556182A>G	gnomAD
rs1114167353	p.Leu726Gln	missense variant	-	NC_000009.12:g.6556178A>T	-
NCI-TCGA novel	p.Leu726Ile	missense variant	-	NC_000009.12:g.6556179G>T	NCI-TCGA
RCV000491029	p.Leu726Gln	missense variant	Smith-Magenis Syndrome-like	NC_000009.12:g.6556178A>T	ClinVar
rs192045547	p.Asp727Glu	missense variant	-	NC_000009.12:g.6556174G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs386833542	p.Gly728Arg	missense variant	-	NC_000009.12:g.6556173C>G	TOPMed,gnomAD
rs386833542	p.Gly728Arg	missense variant	-	NC_000009.12:g.6556173C>T	TOPMed,gnomAD
RCV000049470	p.Gly728Arg	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6556173C>G	ClinVar
RCV000049471	p.Ala729Ter	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6556169del	ClinVar
rs1488575943	p.Asn730Lys	missense variant	-	NC_000009.12:g.6556165A>T	TOPMed
rs545419197	p.Met731Leu	missense variant	-	NC_000009.12:g.6556164T>A	1000Genomes,ExAC,gnomAD
rs763854673	p.Met731Thr	missense variant	-	NC_000009.12:g.6556163A>G	ExAC,TOPMed,gnomAD
rs386833544	p.Asn732Lys	missense variant	-	NC_000009.12:g.6556159A>T	-
RCV000049472	p.Asn732Lys	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6556159A>T	ClinVar
rs143119940	p.Val735Leu	missense variant	-	NC_000009.12:g.6554781C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000514557	p.Val735Leu	missense variant	-	NC_000009.12:g.6554781C>A	ClinVar
rs143119940	p.Val735Leu	missense variant	-	NC_000009.12:g.6554781C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs375850752	p.Cys738Ser	missense variant	-	NC_000009.12:g.6554772A>T	ESP,ExAC,TOPMed,gnomAD
RCV000049474	p.Cys738Ter	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6554771_6554772del	ClinVar
RCV000012770	p.Arg739His	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6554768C>T	ClinVar
rs148775220	p.Arg739Cys	missense variant	-	NC_000009.12:g.6554769G>A	ESP,ExAC,TOPMed,gnomAD
rs121964980	p.Arg739His	missense variant	-	NC_000009.12:g.6554768C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751798296	p.Pro740His	missense variant	-	NC_000009.12:g.6554765G>T	ExAC,gnomAD
rs751798296	p.Pro740Arg	missense variant	-	NC_000009.12:g.6554765G>C	ExAC,gnomAD
rs1255984461	p.Pro740Ser	missense variant	-	NC_000009.12:g.6554766G>A	gnomAD
rs1318425288	p.Gly741Glu	missense variant	-	NC_000009.12:g.6554762C>T	gnomAD
COSM1109543	p.Asp742Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6554760C>A	NCI-TCGA Cosmic
rs1297652907	p.Asp742His	missense variant	-	NC_000009.12:g.6554760C>G	gnomAD
rs370061961	p.Gly744Arg	missense variant	-	NC_000009.12:g.6554754C>T	ESP,ExAC,TOPMed,gnomAD
rs370061961	p.Gly744Trp	missense variant	-	NC_000009.12:g.6554754C>A	ESP,ExAC,TOPMed,gnomAD
rs766368793	p.Gly744Val	missense variant	-	NC_000009.12:g.6554753C>A	ExAC,gnomAD
rs1398537221	p.Ser745Cys	missense variant	-	NC_000009.12:g.6554750G>C	gnomAD
rs749882600	p.Asp746Glu	missense variant	-	NC_000009.12:g.6554746A>T	ExAC,TOPMed,gnomAD
RCV000670618	p.Asp746Glu	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6554746A>T	ClinVar
rs767001572	p.Val747Ile	missense variant	-	NC_000009.12:g.6554745C>T	ExAC,gnomAD
RCV000761435	p.Val747Asp	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6554744A>T	ClinVar
rs769035358	p.Ser748Trp	missense variant	-	NC_000009.12:g.6554741G>C	ExAC,TOPMed,gnomAD
rs769035358	p.Ser748Leu	missense variant	-	NC_000009.12:g.6554741G>A	ExAC,TOPMed,gnomAD
COSM68984	p.Leu750ThrPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.6554727_6554736GAAGATTTAG>-	NCI-TCGA Cosmic
COSM3675349	p.His753Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6554725G>T	NCI-TCGA Cosmic
RCV000049475	p.His753Pro	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6554726T>G	ClinVar
rs386833547	p.His753Pro	missense variant	-	NC_000009.12:g.6554726T>G	-
COSM6183597	p.Lys754Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6554723T>C	NCI-TCGA Cosmic
rs746383783	p.Thr755Ser	missense variant	-	NC_000009.12:g.6554720G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe756Leu	missense variant	-	NC_000009.12:g.6554716G>T	NCI-TCGA
VAR_009939	p.Phe756del	inframe_deletion	Non-ketotic hyperglycinemia (NKH) [MIM:605899]	-	UniProt
rs776772464	p.Cys757Ser	missense variant	-	NC_000009.12:g.6554715A>T	ExAC,gnomAD
rs747219893	p.Ile758Val	missense variant	-	NC_000009.12:g.6554712T>C	ExAC,gnomAD
rs747219893	p.Ile758Leu	missense variant	-	NC_000009.12:g.6554712T>G	ExAC,gnomAD
RCV000685534	p.His760Ter	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6554709dup	ClinVar
rs386833549	p.Gly761Arg	missense variant	-	NC_000009.12:g.6554703C>T	ExAC,TOPMed,gnomAD
RCV000012766	p.Gly761Arg	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6554703C>G	ClinVar
rs386833549	p.Gly761Arg	missense variant	-	NC_000009.12:g.6554703C>G	ExAC,TOPMed,gnomAD
RCV000671712	p.Gly761Arg	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6554703C>T	ClinVar
rs386833550	p.Gly762Arg	missense variant	-	NC_000009.12:g.6554700C>T	-
RCV000049478	p.Gly762Arg	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6554700C>T	ClinVar
rs1374110692	p.Gly763Asp	missense variant	-	NC_000009.12:g.6554696C>T	gnomAD
rs779998377	p.Gly764Ser	missense variant	-	NC_000009.12:g.6554694C>T	ExAC,gnomAD
RCV000049479	p.Pro765Ser	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6554691G>A	ClinVar
rs386833551	p.Pro765Ser	missense variant	-	NC_000009.12:g.6554691G>A	ExAC,gnomAD
RCV000419990	p.Pro765Ser	missense variant	-	NC_000009.12:g.6554691G>A	ClinVar
rs750384225	p.Gly766Val	missense variant	-	NC_000009.12:g.6554687C>A	ExAC,gnomAD
RCV000670171	p.Gly766Val	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6554687C>A	ClinVar
NCI-TCGA novel	p.Gly766Arg	missense variant	-	NC_000009.12:g.6554688C>G	NCI-TCGA
NCI-TCGA novel	p.Gly768Glu	missense variant	-	NC_000009.12:g.6554681C>T	NCI-TCGA
VAR_078788	p.Gly768Glu	Missense	Non-ketotic hyperglycinemia (NKH) [MIM:605899]	-	UniProt
rs751114163	p.Pro769Ser	missense variant	-	NC_000009.12:g.6554679G>A	ExAC,TOPMed,gnomAD
rs386833552	p.Pro769Leu	missense variant	-	NC_000009.12:g.6554678G>A	-
rs751114163	p.Pro769Thr	missense variant	-	NC_000009.12:g.6554679G>T	ExAC,TOPMed,gnomAD
RCV000638274	p.Pro769Thr	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6554679G>T	ClinVar
NCI-TCGA novel	p.Pro769His	missense variant	-	NC_000009.12:g.6554678G>T	NCI-TCGA
RCV000049480	p.Pro769Leu	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6554678G>A	ClinVar
rs762611136	p.Ile770Val	missense variant	-	NC_000009.12:g.6554676T>C	ExAC,TOPMed,gnomAD
rs765661419	p.Ile770Met	missense variant	-	NC_000009.12:g.6554674G>C	ExAC,TOPMed,gnomAD
RCV000049481	p.Gly771Arg	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6554673C>T	ClinVar
rs386833553	p.Gly771Arg	missense variant	-	NC_000009.12:g.6554673C>T	TOPMed,gnomAD
rs760077981	p.Gly771Val	missense variant	-	NC_000009.12:g.6554672C>A	ExAC
NCI-TCGA novel	p.Val772Met	missense variant	-	NC_000009.12:g.6554670C>T	NCI-TCGA
RCV000670154	p.Lys773Ter	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6553508T>A	ClinVar
rs373618804	p.Lys773Ter	stop gained	-	NC_000009.12:g.6553508T>A	ESP,ExAC,gnomAD
rs777256135	p.Lys774Ile	missense variant	-	NC_000009.12:g.6553504T>A	ExAC,gnomAD
RCV000638271	p.His775Tyr	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6553502G>A	ClinVar
RCV000049483	p.His775Arg	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6553501T>C	ClinVar
rs386833555	p.His775Leu	missense variant	-	NC_000009.12:g.6553501T>A	ExAC,TOPMed,gnomAD
rs1554643619	p.His775Tyr	missense variant	-	NC_000009.12:g.6553502G>A	-
rs386833555	p.His775Arg	missense variant	-	NC_000009.12:g.6553501T>C	ExAC,TOPMed,gnomAD
rs778484895	p.Ala777Thr	missense variant	-	NC_000009.12:g.6553496C>T	ExAC,TOPMed,gnomAD
rs1038929765	p.Ala777Asp	missense variant	-	NC_000009.12:g.6553495G>T	TOPMed
rs778484895	p.Ala777Ser	missense variant	-	NC_000009.12:g.6553496C>A	ExAC,TOPMed,gnomAD
rs754670348	p.Pro778Leu	missense variant	-	NC_000009.12:g.6553492G>A	ExAC,TOPMed,gnomAD
RCV000698907	p.Pro778Ala	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6553493G>C	ClinVar
rs754670348	p.Pro778Gln	missense variant	-	NC_000009.12:g.6553492G>T	ExAC,TOPMed,gnomAD
rs1476838990	p.Pro778Ala	missense variant	-	NC_000009.12:g.6553493G>C	gnomAD
rs868055130	p.Pro781Ser	missense variant	-	NC_000009.12:g.6553484G>A	gnomAD
rs1264775700	p.Asn782Ser	missense variant	-	NC_000009.12:g.6553480T>C	gnomAD
rs1208911328	p.His783Arg	missense variant	-	NC_000009.12:g.6553477T>C	gnomAD
rs761073591	p.Pro784Arg	missense variant	-	NC_000009.12:g.6553474G>C	ExAC,gnomAD
NCI-TCGA novel	p.Pro784Ser	missense variant	-	NC_000009.12:g.6553475G>A	NCI-TCGA
rs372101832	p.Val785Phe	missense variant	-	NC_000009.12:g.6553472C>A	ESP,ExAC,TOPMed,gnomAD
rs372101832	p.Val785Ile	missense variant	-	NC_000009.12:g.6553472C>T	ESP,ExAC,TOPMed,gnomAD
rs1317774157	p.Ser787Ter	stop gained	-	NC_000009.12:g.6553465G>T	gnomAD
rs139300551	p.Leu788Val	missense variant	-	NC_000009.12:g.6553463G>C	ESP,ExAC,TOPMed,gnomAD
rs187209250	p.Arg790Gln	missense variant	-	NC_000009.12:g.6553456C>T	1000Genomes,ExAC,gnomAD
RCV000049484	p.Arg790Trp	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6553457G>A	ClinVar
rs386833556	p.Arg790Trp	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6553457G>A	UniProt,dbSNP
VAR_078789	p.Arg790Trp	missense variant	Non-ketotic hyperglycinemia (NKH)	NC_000009.12:g.6553457G>A	UniProt
rs386833556	p.Arg790Trp	missense variant	-	NC_000009.12:g.6553457G>A	ExAC,gnomAD
rs386833556	p.Arg790Gly	missense variant	-	NC_000009.12:g.6553457G>C	ExAC,gnomAD
rs776288649	p.Asp793Asn	missense variant	-	NC_000009.12:g.6553448C>T	ExAC,TOPMed,gnomAD
rs150833015	p.Asp793Val	missense variant	-	NC_000009.12:g.6553447T>A	ESP,ExAC,TOPMed,gnomAD
rs776288649	p.Asp793His	missense variant	-	NC_000009.12:g.6553448C>G	ExAC,TOPMed,gnomAD
rs150833015	p.Asp793Gly	missense variant	-	NC_000009.12:g.6553447T>C	ESP,ExAC,TOPMed,gnomAD
RCV000515011	p.Ala794Thr	missense variant	-	NC_000009.12:g.6553445C>T	ClinVar
rs141933811	p.Ala794Thr	missense variant	-	NC_000009.12:g.6553445C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs567167527	p.Cys795Ser	missense variant	-	NC_000009.12:g.6553442A>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000560893	p.Cys795Ser	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6553442A>T	ClinVar
rs975247366	p.Pro796Leu	missense variant	-	NC_000009.12:g.6553438G>A	TOPMed,gnomAD
COSM3907609	p.Gly798Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.6553433C>A	NCI-TCGA Cosmic
rs1379722178	p.Gly798Arg	missense variant	-	NC_000009.12:g.6553433C>T	TOPMed
rs772015252	p.Thr799Ser	missense variant	-	NC_000009.12:g.6553429G>C	ExAC,gnomAD
rs754581403	p.Val800Ile	missense variant	-	NC_000009.12:g.6553427C>T	ExAC,gnomAD
rs121964977	p.Ala802Val	missense variant	-	NC_000009.12:g.6553420G>A	ESP,TOPMed,gnomAD
RCV000012767	p.Ala802Val	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6553420G>A	ClinVar
rs1375473864	p.Ala803Val	missense variant	-	NC_000009.12:g.6553417G>A	gnomAD
rs898034407	p.Pro804Gln	missense variant	-	NC_000009.12:g.6553414G>T	TOPMed,gnomAD
rs386833557	p.Trp805Ter	stop gained	-	NC_000009.12:g.6553411C>T	-
RCV000049485	p.Trp805Ter	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6553411C>T	ClinVar
rs138797822	p.Gly806Ser	missense variant	-	NC_000009.12:g.6553409C>T	ESP,ExAC,TOPMed,gnomAD
rs536962572	p.Gly806Val	missense variant	-	NC_000009.12:g.6553408C>A	1000Genomes,ExAC,gnomAD
rs955328257	p.Ser807Cys	missense variant	-	NC_000009.12:g.6553405G>C	gnomAD
RCV000049486	p.Ser808Ter	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6553403del	ClinVar
rs750849174	p.Ser808Ile	missense variant	-	NC_000009.12:g.6553402C>A	ExAC,gnomAD
rs1314006147	p.Ser808Arg	missense variant	-	NC_000009.12:g.6553403T>G	gnomAD
rs768090068	p.Ile810Val	missense variant	-	NC_000009.12:g.6553397T>C	ExAC,gnomAD
RCV000790783	p.Ile810Ter	frameshift	-	NC_000009.12:g.6553399_6553402dup	ClinVar
RCV000586601	p.Ile810Ter	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6553399_6553402dup	ClinVar
rs145576840	p.Pro812Ser	missense variant	-	NC_000009.12:g.6553391G>A	ESP,ExAC,TOPMed,gnomAD
rs751624844	p.Ile813Val	missense variant	-	NC_000009.12:g.6553388T>C	ExAC,gnomAD
COSM1109540	p.Ser814Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6553385A>G	NCI-TCGA Cosmic
rs763075374	p.Ser814Phe	missense variant	-	NC_000009.12:g.6553384G>A	ExAC,gnomAD
rs763075374	p.Ser814Cys	missense variant	-	NC_000009.12:g.6553384G>C	ExAC,gnomAD
rs775834004	p.Ala816Ser	missense variant	-	NC_000009.12:g.6553379C>A	ExAC,TOPMed,gnomAD
RCV000638286	p.Ala816Thr	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6553379C>T	ClinVar
rs775834004	p.Ala816Thr	missense variant	-	NC_000009.12:g.6553379C>T	ExAC,TOPMed,gnomAD
rs781682244	p.Met820Val	missense variant	-	NC_000009.12:g.6550914T>C	ExAC,gnomAD
RCV000674253	p.Met820Val	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6550914T>C	ClinVar
rs757748163	p.Met821Leu	missense variant	-	NC_000009.12:g.6550911T>A	ExAC,gnomAD
rs747445550	p.Met821Thr	missense variant	-	NC_000009.12:g.6550910A>G	ExAC,TOPMed,gnomAD
rs1486680415	p.Gly823Ser	missense variant	-	NC_000009.12:g.6550905C>T	gnomAD
rs778306432	p.Gly823Asp	missense variant	-	NC_000009.12:g.6550904C>T	ExAC,gnomAD
rs1447727878	p.Lys824Gln	missense variant	-	NC_000009.12:g.6550902T>G	gnomAD
rs906049409	p.Gly825Asp	missense variant	-	NC_000009.12:g.6550898C>T	-
RCV000489031	p.Gly825Asp	missense variant	-	NC_000009.12:g.6550898C>T	ClinVar
NCI-TCGA novel	p.Lys827Glu	missense variant	-	NC_000009.12:g.6550893T>C	NCI-TCGA
rs1209943477	p.Gln828Ter	stop gained	-	NC_000009.12:g.6550890G>A	TOPMed
RCV000673972	p.Gln828Ter	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6550890_6550893del	ClinVar
rs1157800438	p.Ala829Asp	missense variant	-	NC_000009.12:g.6550886G>T	gnomAD
COSM754384	p.Thr830Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6550883G>T	NCI-TCGA Cosmic
RCV000049488	p.Thr830Met	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6550883G>A	ClinVar
rs386833560	p.Thr830Met	missense variant	-	NC_000009.12:g.6550883G>A	ExAC,TOPMed,gnomAD
rs754106308	p.Thr832Ala	missense variant	-	NC_000009.12:g.6550878T>C	ExAC,gnomAD
rs1275684568	p.Ala833Val	missense variant	-	NC_000009.12:g.6550874G>A	gnomAD
rs370336693	p.Ile834Thr	missense variant	-	NC_000009.12:g.6550871A>G	ESP,ExAC,TOPMed,gnomAD
rs1319920009	p.Ile834Met	missense variant	-	NC_000009.12:g.6550870T>C	gnomAD
rs1157130507	p.Ala837Val	missense variant	-	NC_000009.12:g.6550862G>A	TOPMed
rs1390524621	p.Asn838Lys	missense variant	-	NC_000009.12:g.6550858G>C	gnomAD
VAR_079313	p.Tyr839Cys	Missense	Non-ketotic hyperglycinemia (NKH) [MIM:605899]	-	UniProt
rs386833561	p.Met840Lys	missense variant	-	NC_000009.12:g.6550853A>T	-
rs781693346	p.Met840Val	missense variant	-	NC_000009.12:g.6550854T>C	ExAC,TOPMed,gnomAD
rs781693346	p.Met840Leu	missense variant	-	NC_000009.12:g.6550854T>G	ExAC,TOPMed,gnomAD
RCV000263401	p.Met840Val	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6550854T>C	ClinVar
RCV000049489	p.Met840Lys	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6550853A>T	ClinVar
RCV000049490	p.Ala841Pro	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6550851C>G	ClinVar
rs386833562	p.Ala841Pro	missense variant	-	NC_000009.12:g.6550851C>G	-
rs548033815	p.Lys842Asn	missense variant	-	NC_000009.12:g.6550846C>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000537902	p.Arg843Ter	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6550845G>A	ClinVar
rs1554643360	p.Arg843Ter	stop gained	-	NC_000009.12:g.6550845G>A	-
rs1422108790	p.Arg843Gln	missense variant	-	NC_000009.12:g.6550844C>T	TOPMed,gnomAD
rs776466233	p.Leu844Val	missense variant	-	NC_000009.12:g.6550842A>C	ExAC,gnomAD
rs770743220	p.Leu844Ter	stop gained	-	NC_000009.12:g.6550841A>C	ExAC,gnomAD
rs921775044	p.Glu845Gly	missense variant	-	NC_000009.12:g.6550838T>C	TOPMed
rs747336541	p.Thr846Ile	missense variant	-	NC_000009.12:g.6550835G>A	ExAC,TOPMed,gnomAD
rs747336541	p.Thr846Lys	missense variant	-	NC_000009.12:g.6550835G>T	ExAC,TOPMed,gnomAD
RCV000550385	p.Thr846Ile	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6550835G>A	ClinVar
rs1272391117	p.His847Arg	missense variant	-	NC_000009.12:g.6550832T>C	gnomAD
rs1554643354	p.Tyr848Ter	stop gained	-	NC_000009.12:g.6550828G>C	-
RCV000499785	p.Tyr848Ter	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6550828G>C	ClinVar
rs772624934	p.Arg849Lys	missense variant	-	NC_000009.12:g.6550826C>T	ExAC,gnomAD
rs778000679	p.Arg849Gly	missense variant	-	NC_000009.12:g.6550827T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg849Ile	missense variant	-	NC_000009.12:g.6550826C>A	NCI-TCGA
RCV000638283	p.Arg849Gly	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6550827T>C	ClinVar
rs753948580	p.Leu851Pro	missense variant	-	NC_000009.12:g.6550820A>G	ExAC,gnomAD
rs753948580	p.Leu851Arg	missense variant	-	NC_000009.12:g.6550820A>C	ExAC,gnomAD
rs201654583	p.Phe852Leu	missense variant	-	NC_000009.12:g.6550816G>C	ExAC,gnomAD
rs1388179193	p.Arg853Ser	missense variant	-	NC_000009.12:g.6550813C>G	TOPMed
rs1271552143	p.Gly854Asp	missense variant	-	NC_000009.12:g.6550811C>T	gnomAD
rs764251972	p.Ala855Val	missense variant	-	NC_000009.12:g.6550808G>A	ExAC,gnomAD
rs751302524	p.Ala855Thr	missense variant	-	NC_000009.12:g.6550809C>T	ExAC,gnomAD
rs751302524	p.Ala855Ser	missense variant	-	NC_000009.12:g.6550809C>A	ExAC,gnomAD
RCV000367344	p.Ala855Val	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6550808G>A	ClinVar
rs1229379078	p.Arg856Thr	missense variant	-	NC_000009.12:g.6550805C>G	TOPMed
rs1455180063	p.Gly857Asp	missense variant	-	NC_000009.12:g.6540146C>T	gnomAD
rs760349866	p.Tyr858Ser	missense variant	-	NC_000009.12:g.6540143T>G	ExAC,TOPMed,gnomAD
RCV000049492	p.Tyr858Ter	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6540142A>C	ClinVar
rs386833564	p.Tyr858Ter	stop gained	-	NC_000009.12:g.6540142A>C	ExAC,gnomAD
rs760349866	p.Tyr858Cys	missense variant	-	NC_000009.12:g.6540143T>C	ExAC,TOPMed,gnomAD
RCV000673148	p.Gly860Arg	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6540138C>G	ClinVar
rs753759723	p.Gly860Ser	missense variant	-	NC_000009.12:g.6540138C>T	ExAC,TOPMed,gnomAD
rs753759723	p.Gly860Arg	missense variant	-	NC_000009.12:g.6540138C>G	ExAC,TOPMed,gnomAD
RCV000671933	p.Glu862Lys	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6540132C>T	ClinVar
rs925908885	p.Glu862Lys	missense variant	-	NC_000009.12:g.6540132C>T	TOPMed
NCI-TCGA novel	p.Glu862Ter	stop gained	-	NC_000009.12:g.6540132C>A	NCI-TCGA
rs1376105769	p.Leu865Phe	missense variant	-	NC_000009.12:g.6540121C>A	TOPMed,gnomAD
rs375375700	p.Leu865Met	missense variant	-	NC_000009.12:g.6540123A>T	ESP,ExAC,TOPMed,gnomAD
VAR_078790	p.Asp866His	Missense	Non-ketotic hyperglycinemia (NKH) [MIM:605899]	-	UniProt
rs749852046	p.Thr867Met	missense variant	-	NC_000009.12:g.6540116G>A	ExAC,TOPMed,gnomAD
rs749852046	p.Thr867Arg	missense variant	-	NC_000009.12:g.6540116G>C	ExAC,TOPMed,gnomAD
rs1314992704	p.Arg868Ser	missense variant	-	NC_000009.12:g.6540112T>G	gnomAD
rs1376198157	p.Arg868Thr	missense variant	-	NC_000009.12:g.6540113C>G	gnomAD
rs143130333	p.Pro869Ser	missense variant	-	NC_000009.12:g.6540111G>A	ESP
rs781220200	p.Pro869Arg	missense variant	-	NC_000009.12:g.6540110G>C	ExAC,gnomAD
COSM1314870	p.Phe870Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6540106G>C	NCI-TCGA Cosmic
RCV000517457	p.Phe870Ter	frameshift	-	NC_000009.12:g.6540111dup	ClinVar
COSM1472296	p.Lys871Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6540103T>G	NCI-TCGA Cosmic
rs766244892	p.Lys871Arg	missense variant	-	NC_000009.12:g.6540104T>C	ExAC,TOPMed,gnomAD
RCV000526391	p.Lys872Ter	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6540102T>A	ClinVar
rs1430968530	p.Lys872Ter	stop gained	-	NC_000009.12:g.6540102T>A	TOPMed
rs778913771	p.Lys872Asn	missense variant	-	NC_000009.12:g.6540100C>G	ExAC,gnomAD
rs754965210	p.Ser873Pro	missense variant	-	NC_000009.12:g.6540099A>G	ExAC,gnomAD
rs1180086083	p.Ala874Val	missense variant	-	NC_000009.12:g.6540095G>A	gnomAD
COSM754385	p.Asn875Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6540093T>A	NCI-TCGA Cosmic
rs1485044852	p.Ile876Val	missense variant	-	NC_000009.12:g.6540090T>C	gnomAD
rs1257670858	p.Ile876Thr	missense variant	-	NC_000009.12:g.6540089A>G	gnomAD
rs765893483	p.Glu877Ter	stop gained	-	NC_000009.12:g.6540087C>A	ExAC,gnomAD
rs765893483	p.Glu877Lys	missense variant	-	NC_000009.12:g.6540087C>T	ExAC,gnomAD
rs953517027	p.Val879Met	missense variant	-	NC_000009.12:g.6540081C>T	TOPMed
RCV000049494	p.Asp880Val	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6540077T>A	ClinVar
rs386833566	p.Asp880Val	missense variant	-	NC_000009.12:g.6540077T>A	-
rs1057515606	p.Arg884Gly	missense variant	-	NC_000009.12:g.6540066T>C	-
RCV000312689	p.Arg884Gly	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6540066T>C	ClinVar
rs755531632	p.Arg884Ile	missense variant	-	NC_000009.12:g.6540065C>A	ExAC,gnomAD
rs749981093	p.Leu885Pro	missense variant	-	NC_000009.12:g.6540062A>G	ExAC,gnomAD
rs386833567	p.Gln886Ter	stop gained	-	NC_000009.12:g.6540060G>A	-
RCV000049495	p.Gln886Ter	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6540060G>A	ClinVar
rs1465890600	p.Asp887Gly	missense variant	-	NC_000009.12:g.6540056T>C	TOPMed
NCI-TCGA novel	p.Gly889Ter	stop gained	-	NC_000009.12:g.6540051C>A	NCI-TCGA
rs760961076	p.Phe890Leu	missense variant	-	NC_000009.12:g.6536232A>C	ExAC,gnomAD
rs146939116	p.Ala892Thr	missense variant	-	NC_000009.12:g.6536228C>T	ESP,ExAC,gnomAD
rs367987650	p.Pro893Leu	missense variant	-	NC_000009.12:g.6536224G>A	ESP,ExAC,TOPMed,gnomAD
rs367987650	p.Pro893Arg	missense variant	-	NC_000009.12:g.6536224G>C	ESP,ExAC,TOPMed,gnomAD
rs141152043	p.Met895Val	missense variant	-	NC_000009.12:g.6536219T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769606225	p.Met895Thr	missense variant	-	NC_000009.12:g.6536218A>G	ExAC,TOPMed,gnomAD
RCV000277386	p.Met895Val	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6536219T>C	ClinVar
RCV000538592	p.Met895Thr	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6536218A>G	ClinVar
rs1252033640	p.Pro898Leu	missense variant	-	NC_000009.12:g.6536209G>A	gnomAD
rs1297487589	p.Val899Ala	missense variant	-	NC_000009.12:g.6536206A>G	TOPMed,gnomAD
rs751089321	p.Gly901Glu	missense variant	-	NC_000009.12:g.6536200C>T	ExAC,gnomAD
rs756807420	p.Gly901Trp	missense variant	-	NC_000009.12:g.6536201C>A	ExAC,gnomAD
rs758046295	p.Thr902Ala	missense variant	-	NC_000009.12:g.6536198T>C	ExAC,gnomAD
COSM6183600	p.Met904Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6536191A>G	NCI-TCGA Cosmic
rs188269735	p.Val905Gly	missense variant	-	NC_000009.12:g.6536188A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1397798991	p.Pro907Thr	missense variant	-	NC_000009.12:g.6536183G>T	TOPMed
rs1392831652	p.Thr908Ala	missense variant	-	NC_000009.12:g.6536180T>C	gnomAD
rs759933539	p.Ser910Leu	missense variant	-	NC_000009.12:g.6536173G>A	ExAC,gnomAD
RCV000670164	p.Ser910Leu	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6536173G>A	ClinVar
rs1390157911	p.Glu911Gln	missense variant	-	NC_000009.12:g.6536171C>G	gnomAD
NCI-TCGA novel	p.Glu911Asp	missense variant	-	NC_000009.12:g.6536169C>A	NCI-TCGA
rs767018561	p.Asp912Gly	missense variant	-	NC_000009.12:g.6536167T>C	ExAC,gnomAD
rs1337129143	p.Lys913Asn	missense variant	-	NC_000009.12:g.6536163C>G	TOPMed
rs1320682192	p.Ala914Val	missense variant	-	NC_000009.12:g.6536161G>A	TOPMed,gnomAD
rs773430894	p.Leu916Met	missense variant	-	NC_000009.12:g.6536156G>T	ExAC,TOPMed,gnomAD
rs773430894	p.Leu916Val	missense variant	-	NC_000009.12:g.6536156G>C	ExAC,TOPMed,gnomAD
rs370297328	p.Asp917His	missense variant	-	NC_000009.12:g.6536153C>G	ESP,ExAC,TOPMed,gnomAD
rs769670556	p.Cys920Phe	missense variant	-	NC_000009.12:g.6536143C>A	ExAC,gnomAD
rs769670556	p.Cys920Tyr	missense variant	-	NC_000009.12:g.6536143C>T	ExAC,gnomAD
rs1196726569	p.Asp921Ala	missense variant	-	NC_000009.12:g.6536140T>G	TOPMed
rs1305278291	p.Ala922Ser	missense variant	-	NC_000009.12:g.6536138C>A	gnomAD
rs1305278291	p.Ala922Thr	missense variant	-	NC_000009.12:g.6536138C>T	gnomAD
rs1236636035	p.Ile924Phe	missense variant	-	NC_000009.12:g.6536132T>A	gnomAD
rs745769719	p.Ser925Cys	missense variant	-	NC_000009.12:g.6536129T>A	ExAC,gnomAD
rs781057291	p.Ser925Thr	missense variant	-	NC_000009.12:g.6536128C>G	ExAC,TOPMed,gnomAD
rs552072250	p.Arg927Trp	missense variant	-	NC_000009.12:g.6536123G>A	1000Genomes,ExAC,gnomAD
rs934940369	p.Arg927Gln	missense variant	-	NC_000009.12:g.6536122C>T	TOPMed
rs1373140994	p.Gln928Arg	missense variant	-	NC_000009.12:g.6536119T>C	gnomAD
COSM1109539	p.Ala931Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6536110G>A	NCI-TCGA Cosmic
RCV000443273	p.Ala931Thr	missense variant	-	NC_000009.12:g.6536111C>T	ClinVar
rs1057520185	p.Ala931Thr	missense variant	-	NC_000009.12:g.6536111C>T	-
rs758029533	p.Ile933Thr	missense variant	-	NC_000009.12:g.6536104A>G	ExAC,TOPMed,gnomAD
COSM1285167	p.Ile933Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6536105T>A	NCI-TCGA Cosmic
rs758029533	p.Ile933Asn	missense variant	-	NC_000009.12:g.6536104A>T	ExAC,TOPMed,gnomAD
rs747879174	p.Ile933Met	missense variant	-	NC_000009.12:g.6536103A>C	ExAC,gnomAD
rs1186573360	p.Ile933Leu	missense variant	-	NC_000009.12:g.6536105T>G	gnomAD
RCV000531648	p.Ile933Asn	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6536104A>T	ClinVar
RCV000666803	p.Ile933Thr	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6536104A>G	ClinVar
rs754188922	p.Glu934Asp	missense variant	-	NC_000009.12:g.6536100C>A	ExAC,TOPMed,gnomAD
rs779129201	p.Glu934Gly	missense variant	-	NC_000009.12:g.6536101T>C	ExAC,TOPMed,gnomAD
rs754188922	p.Glu934Asp	missense variant	-	NC_000009.12:g.6536100C>G	ExAC,TOPMed,gnomAD
rs1421362604	p.Glu935Lys	missense variant	-	NC_000009.12:g.6536099C>T	TOPMed
rs190995960	p.Gly936Ser	missense variant	-	NC_000009.12:g.6536096C>T	1000Genomes
rs151100082	p.Arg937Pro	missense variant	-	NC_000009.12:g.6536092C>G	ESP,ExAC,TOPMed,gnomAD
rs766928717	p.Arg937Cys	missense variant	-	NC_000009.12:g.6536093G>A	ExAC,TOPMed,gnomAD
rs151100082	p.Arg937His	missense variant	-	NC_000009.12:g.6536092C>T	ESP,ExAC,TOPMed,gnomAD
rs766928717	p.Arg937Ser	missense variant	-	NC_000009.12:g.6536093G>T	ExAC,TOPMed,gnomAD
rs750518195	p.Ile938Met	missense variant	-	NC_000009.12:g.6536088G>C	ExAC,TOPMed,gnomAD
rs767772993	p.Asp939His	missense variant	-	NC_000009.12:g.6536087C>G	ExAC,TOPMed,gnomAD
rs767772993	p.Asp939Asn	missense variant	-	NC_000009.12:g.6536087C>T	ExAC,TOPMed,gnomAD
rs559923220	p.Pro940Ser	missense variant	-	NC_000009.12:g.6536084G>A	1000Genomes,ExAC,gnomAD
rs1234623904	p.Val942Ile	missense variant	-	NC_000009.12:g.6536078C>T	TOPMed
rs374969047	p.Pro944Leu	missense variant	-	NC_000009.12:g.6536071G>A	ESP,ExAC,TOPMed,gnomAD
RCV000672828	p.Met947Ile	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6534786C>T	ClinVar
rs1214310966	p.Met947Ile	missense variant	-	NC_000009.12:g.6534786C>T	gnomAD
RCV000049498	p.Pro949Leu	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6534781G>A	ClinVar
rs386833570	p.Pro949Leu	missense variant	-	NC_000009.12:g.6534781G>A	-
rs201921746	p.His950Arg	missense variant	-	NC_000009.12:g.6534778T>C	1000Genomes
rs147472391	p.Ser951Tyr	missense variant	-	NC_000009.12:g.6534775G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000669842	p.Ser951Tyr	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6534775G>T	ClinVar
rs147472391	p.Ser951Phe	missense variant	-	NC_000009.12:g.6534775G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749015687	p.Thr953Ile	missense variant	-	NC_000009.12:g.6534769G>A	ExAC,TOPMed,gnomAD
rs749015687	p.Thr953Ser	missense variant	-	NC_000009.12:g.6534769G>C	ExAC,TOPMed,gnomAD
rs148540696	p.Val955Ile	missense variant	-	NC_000009.12:g.6534764C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1439114717	p.Thr956Ile	missense variant	-	NC_000009.12:g.6534760G>A	gnomAD
RCV000049499	p.Ser957Pro	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6534758A>G	ClinVar
rs386833571	p.Ser957Pro	missense variant	-	NC_000009.12:g.6534758A>G	ExAC,gnomAD
rs1327144941	p.Ser958Phe	missense variant	-	NC_000009.12:g.6534754G>A	gnomAD
rs757705918	p.His959Asn	missense variant	-	NC_000009.12:g.6534752G>T	ExAC
rs572523552	p.His959Pro	missense variant	-	NC_000009.12:g.6534751T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs572523552	p.His959Arg	missense variant	-	NC_000009.12:g.6534751T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs370831180	p.Trp960Arg	missense variant	-	NC_000009.12:g.6534749A>G	ESP,ExAC,gnomAD
rs1410625190	p.Trp960Ter	stop gained	-	NC_000009.12:g.6534748C>T	TOPMed,gnomAD
rs758639160	p.Asp961Asn	missense variant	-	NC_000009.12:g.6534746C>T	ExAC,gnomAD
rs1172061571	p.Arg962Trp	missense variant	-	NC_000009.12:g.6534743G>A	gnomAD
rs1452327155	p.Arg962Gln	missense variant	-	NC_000009.12:g.6534742C>T	gnomAD
rs386833572	p.Tyr964Ter	stop gained	-	NC_000009.12:g.6534736dup	-
rs752968941	p.Tyr964Ter	stop gained	-	NC_000009.12:g.6534735A>T	ExAC,gnomAD
rs916926569	p.Tyr964Asp	missense variant	-	NC_000009.12:g.6534737A>C	TOPMed
RCV000674486	p.Tyr964Ter	frameshift	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6534740dup	ClinVar
RCV000049583	p.Tyr964Ter	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6534736dup	ClinVar
rs1489390970	p.Ser965Phe	missense variant	-	NC_000009.12:g.6534733G>A	gnomAD
rs386833573	p.Arg966Gly	missense variant	-	NC_000009.12:g.6534731T>C	-
RCV000049500	p.Arg966Gly	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6534731T>C	ClinVar
NCI-TCGA novel	p.Glu967Ter	stop gained	-	NC_000009.12:g.6534728C>A	NCI-TCGA
rs554230348	p.Val968Ala	missense variant	-	NC_000009.12:g.6534724A>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro972Ser	missense variant	-	NC_000009.12:g.6534713G>A	NCI-TCGA
rs1203164479	p.Leu973Ile	missense variant	-	NC_000009.12:g.6534710G>T	TOPMed,gnomAD
rs1203164479	p.Leu973Val	missense variant	-	NC_000009.12:g.6534710G>C	TOPMed,gnomAD
rs949553434	p.Pro974Ser	missense variant	-	NC_000009.12:g.6533160G>A	gnomAD
rs949553434	p.Pro974Thr	missense variant	-	NC_000009.12:g.6533160G>T	gnomAD
rs777045138	p.Phe975Ser	missense variant	-	NC_000009.12:g.6533156A>G	ExAC,gnomAD
rs150624881	p.Val976Met	missense variant	-	NC_000009.12:g.6533154C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs747426447	p.Pro978Gln	missense variant	-	NC_000009.12:g.6533147G>T	ExAC,gnomAD
rs1271866161	p.Glu979Asp	missense variant	-	NC_000009.12:g.6533143C>G	gnomAD
rs550514750	p.Glu979Ala	missense variant	-	NC_000009.12:g.6533144T>G	ExAC,TOPMed,gnomAD
RCV000551990	p.Glu979Ala	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6533144T>G	ClinVar
rs772574530	p.Asn980Asp	missense variant	-	NC_000009.12:g.6533142T>C	ExAC,TOPMed,gnomAD
rs1335607734	p.Asn980Lys	missense variant	-	NC_000009.12:g.6533140G>C	gnomAD
RCV000532564	p.Asn980Asp	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6533142T>C	ClinVar
rs1315087432	p.Phe982Leu	missense variant	-	NC_000009.12:g.6533136A>G	gnomAD
rs1270215089	p.Phe982Leu	missense variant	-	NC_000009.12:g.6533134G>T	TOPMed
RCV000674186	p.Trp983Ter	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6533132C>T	ClinVar
rs1057515605	p.Trp983Arg	missense variant	-	NC_000009.12:g.6533133A>G	-
rs1554641519	p.Trp983Ter	stop gained	-	NC_000009.12:g.6533132C>T	-
RCV000301870	p.Trp983Arg	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6533133A>G	ClinVar
rs369837674	p.Thr985Met	missense variant	-	NC_000009.12:g.6533126G>A	ESP,ExAC,TOPMed,gnomAD
rs140028660	p.Ile986Phe	missense variant	-	NC_000009.12:g.6533124T>A	ESP,ExAC,TOPMed,gnomAD
rs925268812	p.Ala987Gly	missense variant	-	NC_000009.12:g.6533120G>C	TOPMed
rs925268812	p.Ala987Val	missense variant	-	NC_000009.12:g.6533120G>A	TOPMed
rs1288008254	p.Arg988Trp	missense variant	-	NC_000009.12:g.6533118G>A	gnomAD
rs749512886	p.Arg988Gln	missense variant	-	NC_000009.12:g.6533117C>T	ExAC,gnomAD
RCV000670172	p.Arg988Trp	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6533118G>A	ClinVar
rs1288008254	p.Arg988Gly	missense variant	-	NC_000009.12:g.6533118G>C	gnomAD
rs749512886	p.Arg988Pro	missense variant	-	NC_000009.12:g.6533117C>G	ExAC,gnomAD
RCV000669902	p.Arg988Gln	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6533117C>T	ClinVar
rs149336868	p.Ile989Thr	missense variant	-	NC_000009.12:g.6533114A>G	ESP,ExAC,TOPMed,gnomAD
rs951774955	p.Ile989Met	missense variant	-	NC_000009.12:g.6533113A>C	TOPMed,gnomAD
rs1162754179	p.Ile989Val	missense variant	-	NC_000009.12:g.6533115T>C	gnomAD
rs751400703	p.Asp990His	missense variant	-	NC_000009.12:g.6533112C>G	ExAC,gnomAD
rs758421388	p.Asp991Asn	missense variant	-	NC_000009.12:g.6533109C>T	ExAC,gnomAD
rs752239336	p.Ile992Thr	missense variant	-	NC_000009.12:g.6533105A>G	ExAC,gnomAD
rs1187433357	p.Tyr993Cys	missense variant	-	NC_000009.12:g.6533102T>C	TOPMed,gnomAD
rs1406713104	p.Gly994Arg	missense variant	-	NC_000009.12:g.6533100C>T	TOPMed
RCV000664682	p.Gly994Arg	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6533100C>T	ClinVar
rs1554641505	p.Asp995Asn	missense variant	-	NC_000009.12:g.6533097C>T	-
RCV000670173	p.Asp995Asn	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6533097C>T	ClinVar
RCV000391827	p.Gln996His	missense variant	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6533092C>G	ClinVar
rs1296191006	p.Gln996Glu	missense variant	-	NC_000009.12:g.6533094G>C	TOPMed
rs138640017	p.Gln996His	missense variant	-	NC_000009.12:g.6533092C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000697307	p.Gln996Ter	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6533094G>A	ClinVar
rs757398632	p.His997Gln	missense variant	-	NC_000009.12:g.6533089G>C	gnomAD
rs776192576	p.Cys1000Phe	missense variant	-	NC_000009.12:g.6533081C>A	ExAC,gnomAD
rs555776146	p.Thr1001Ser	missense variant	-	NC_000009.12:g.6533078G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs555776146	p.Thr1001Ile	missense variant	-	NC_000009.12:g.6533078G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs555776146	p.Thr1001Asn	missense variant	-	NC_000009.12:g.6533078G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1370996204	p.Thr1001Ala	missense variant	-	NC_000009.12:g.6533079T>C	gnomAD
rs1333400037	p.Cys1002Trp	missense variant	-	NC_000009.12:g.6533074G>C	gnomAD
rs751846463	p.Pro1003Ser	missense variant	-	NC_000009.12:g.6533073G>A	TOPMed,gnomAD
COSM1109537	p.Pro1004Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6533070G>A	NCI-TCGA Cosmic
rs772557873	p.Pro1004His	missense variant	-	NC_000009.12:g.6533069G>T	ExAC,TOPMed,gnomAD
rs773642256	p.Pro1004Ala	missense variant	-	NC_000009.12:g.6533070G>C	ExAC,TOPMed,gnomAD
rs192587467	p.Met1005Ile	missense variant	-	NC_000009.12:g.6533065C>T	1000Genomes,TOPMed
rs1423098953	p.Met1005Lys	missense variant	-	NC_000009.12:g.6533066A>T	gnomAD
rs192587467	p.Met1005Ile	missense variant	-	NC_000009.12:g.6533065C>G	1000Genomes,TOPMed
rs192587467	p.Met1005Ile	missense variant	-	NC_000009.12:g.6533065C>A	1000Genomes,TOPMed
rs112299567	p.Val1007Ile	missense variant	-	NC_000009.12:g.6533061C>T	TOPMed
NCI-TCGA novel	p.Glu1009Ter	stop gained	-	NC_000009.12:g.6533055C>A	NCI-TCGA
COSM1109536	p.Pro1011Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.6533049G>A	NCI-TCGA Cosmic
COSM1490060	p.Phe1012HisPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.6533047_6533048insGG	NCI-TCGA Cosmic
RCV000673229	p.Glu1014Ter	nonsense	Non-ketotic hyperglycinemia (GCE)	NC_000009.12:g.6533040C>A	ClinVar
rs1444245039	p.Glu1014Ter	stop gained	-	NC_000009.12:g.6533040C>A	TOPMed
rs1444245039	p.Glu1014Gln	missense variant	-	NC_000009.12:g.6533040C>G	TOPMed
rs1323802653	p.Gln1015Lys	missense variant	-	NC_000009.12:g.6533037G>T	gnomAD
rs1323802653	p.Gln1015Ter	stop gained	-	NC_000009.12:g.6533037G>A	gnomAD
rs774386131	p.Gln1015Pro	missense variant	-	NC_000009.12:g.6533036T>G	ExAC,gnomAD
rs1034808665	p.Lys1016Asn	missense variant	-	NC_000009.12:g.6533032C>G	TOPMed,gnomAD
rs1294726700	p.Arg1017Lys	missense variant	-	NC_000009.12:g.6533030C>T	gnomAD
rs150149798	p.Ala1018Val	missense variant	-	NC_000009.12:g.6533027G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs533019569	p.Ser1020Ala	missense variant	-	NC_000009.12:g.6533022A>C	1000Genomes,ExAC,gnomAD
rs533019569	p.Ser1020Thr	missense variant	-	NC_000009.12:g.6533022A>T	1000Genomes,ExAC,gnomAD
rs1003297138	p.Ser1020Phe	missense variant	-	NC_000009.12:g.6533021G>A	TOPMed,gnomAD
rs200053325	p.Ter1021Leu	stop lost	-	NC_000009.12:g.6533018T>A	ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001807	Aggressive behavior	phenotype	HPO
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0014544	Epilepsy	disease	HPO
C0014548	Epilepsy, Generalized	disease	CLINVAR
C0019521	Hiccup	phenotype	HPO
C0020456	Hyperglycemia	disease	LHGDN
C0021125	Impulsive Behavior	phenotype	HPO
C0023380	Lethargy	phenotype	HPO
C0024299	Lymphoma	group	BEFREE
C0025362	Mental Retardation	disease	HPO
C0026827	Muscle hypotonia	phenotype	LHGDN
C0027066	Myoclonus	phenotype	HPO
C0027794	Neural Tube Defects	group	BEFREE
C0028754	Obesity	disease	CLINVAR
C0029463	Osteosarcoma	disease	GWASCAT
C0036572	Seizures	phenotype	HPO
C0085583	Choreoathetosis	disease	BEFREE
C0085584	Encephalopathies	group	HPO
C0151889	Hyperreflexia	phenotype	HPO
C0175754	Agenesis of corpus callosum	disease	HPO
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0268559	Hyperglycinemia	phenotype	BEFREE;HPO
C0268560	Hyperglycinemia, Transient Neonatal	disease	BEFREE;UNIPROT
C0268561	Hyperglycinemia, Nonketotic, Type I	disease	CTD_human
C0268562	Hyperglycinemia, Nonketotic, Type II	disease	CTD_human
C0268579	Propionic acidemia	disease	BEFREE
C0341706	Glycinuria	disease	HPO
C0346429	Multiple malignancy	phenotype	BEFREE
C0423903	Low intelligence	phenotype	HPO
C0424295	Hyperactive behavior	phenotype	HPO
C0424323	Physical aggression	phenotype	HPO
C0543541	HYPERGLYCINURIA (disorder)	disease	HPO
C0543888	Epileptic encephalopathy	disease	GENOMICS_ENGLAND
C0554985	Aggressive outburst	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0744897	Recurrent singultus	phenotype	HPO
C0751265	Learning Disabilities	disease	BEFREE
C0751747	Hyperglycinemia, Nonketotic, Type III	disease	CTD_human
C0751748	Nonketotic Hyperglycinemia	disease	BEFREE;CLINVAR;CTD_human;LHGDN;MGD;ORPHANET;UNIPROT
C0917816	Mental deficiency	disease	HPO
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1457883	Aggressive reaction	phenotype	HPO
C1704276	Spasmodic movement	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1844947	Death in early childhood	phenotype	HPO
C1854302	Involuntary jerking movements	phenotype	HPO
C1858120	Generalized hypotonia	phenotype	HPO
C1858430	Death in infancy	phenotype	HPO
C2700617	Irritation - emotion	phenotype	HPO
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND;HPO;LHGDN
C3887611	Restlessness	phenotype	HPO
C4020875	Mental and motor retardation	phenotype	CLINVAR
C4020876	Dull intelligence	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004375	glycine dehydrogenase (decarboxylating) activity	IBA
GO:0004375	glycine dehydrogenase (decarboxylating) activity	IDA
GO:0009055	electron transfer activity	TAS
GO:0016594	glycine binding	IBA
GO:0016829	lyase activity	IEA
GO:0019899	enzyme binding	IEA
GO:0030170	pyridoxal phosphate binding	IBA
GO:0042803	protein homodimerization activity	ISS
GO:0070280	pyridoxal binding	ISS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006546	glycine catabolic process	IDA
GO:0019464	glycine decarboxylation via glycine cleavage system	IBA
GO:0022900	electron transport chain	IEA
GO:0036255	response to methylamine	ISS
GO:0065003	protein-containing complex assembly	IEA
GO:1903442	response to lipoic acid	ISS
GO:1990830	cellular response to leukemia inhibitory factor	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005654	nucleoplasm	IDA
GO:0005739	mitochondrion	IDA
GO:0005739	mitochondrion	IBA
GO:0005759	mitochondrial matrix	TAS
GO:0005886	plasma membrane	IDA
GO:0005960	glycine cleavage complex	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-389661	Glyoxylate metabolism and glycine degradation	TAS
R-HSA-6783984	Glycine degradation	TAS
R-HSA-71291	Metabolism of amino acids and derivatives	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D019813	1,2-Dimethylhydrazine	[APC protein affects the susceptibility to 1,2-Dimethylhydrazine] which results in increased expression of GLDC mRNA	27840820
D020001	1-Butanol	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of GLDC mRNA	29432896
C029141	2,2,5,7,8-pentamethyl-1-hydroxychroman	2,2,5,7,8-pentamethyl-1-hydroxychroman results in decreased expression of GLDC mRNA	21920950
C014211	2,3,7,8-tetrachlorodibenzofuran	2,3,7,8-tetrachlorodibenzofuran affects the expression of GLDC mRNA	18343893
C496492	abrine	abrine results in decreased expression of GLDC mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of GLDC mRNA	21420995; 25704631; 29067470;
D000082	Acetaminophen	Acetaminophen affects the expression of GLDC mRNA	17562736
C006418	adrenocorticotropin zinc	adrenocorticotropin zinc results in increased expression of GLDC mRNA	19920212
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of GLDC protein	20106945
D016604	Aflatoxin B1	Aflatoxin B1 affects the methylation of GLDC intron	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of GLDC mRNA	22100608
D001280	Atrazine	Atrazine results in increased expression of GLDC mRNA	25929836
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of GLDC mRNA	26001963
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of GLDC mRNA	20106945; 21632981; 26238291;
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in decreased expression of GLDC mRNA	26377693
C022921	benzo(k)fluoranthene	benzo(k)fluoranthene results in decreased expression of GLDC mRNA	26377693
C006780	bisphenol A	bisphenol A affects the expression of GLDC mRNA	21786754
C006780	bisphenol A	bisphenol A affects the expression of GLDC mRNA	30903817
C006780	bisphenol A	bisphenol A results in decreased expression of GLDC mRNA	25181051; 30816183;
C013418	bromfenacoum	bromfenacoum results in decreased expression of GLDC protein	28903499
D002065	Buspirone	Buspirone results in decreased expression of GLDC mRNA	24136188
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of GLDC mRNA	23741332
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of GLDC mRNA	18804290
D002220	Carbamazepine	Carbamazepine affects the expression of GLDC mRNA	24752500; 25979313;
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of GLDC mRNA	20938992
D002945	Cisplatin	Cisplatin results in increased expression of GLDC mRNA	27392435
D002994	Clofibrate	Clofibrate results in decreased expression of GLDC mRNA	17585979
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of GLDC mRNA	24386269
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of GLDC mRNA	19549813
C030123	coumarin	coumarin results in decreased expression of GLDC mRNA	18480146
D016572	Cyclosporine	Cyclosporine results in decreased expression of GLDC mRNA	20106945; 21632981; 22147139; 23830897; 25562108; 27989131;
D016572	Cyclosporine	Cyclosporine results in decreased expression of GLDC mRNA	19770486; 23830897;
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in decreased expression of GLDC mRNA	23640034
D000077209	Decitabine	Decitabine inhibits the reaction [Smoke results in decreased expression of GLDC mRNA]	21095227
D000077209	Decitabine	Decitabine results in increased expression of GLDC mRNA	19151715
C016366	dibenzothiophene	dibenzothiophene results in increased expression of GLDC mRNA	23656968
D004008	Diclofenac	Diclofenac affects the expression of GLDC mRNA	24752500
D004041	Dietary Fats	Dietary Fats results in decreased expression of GLDC mRNA	25016146
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with Phenobarbital] results in decreased expression of GLDC mRNA	24535843
C015835	dimethyl-4-toluidine	dimethyl-4-toluidine results in increased expression of GLDC mRNA	27638505
D004221	Disulfiram	Disulfiram results in decreased expression of GLDC mRNA	20530235
C012301	domoic acid	domoic acid results in increased expression of GLDC mRNA	18936300
D004317	Doxorubicin	Doxorubicin results in increased expression of GLDC mRNA	15033991
D004726	Endosulfan	Endosulfan results in decreased expression of GLDC mRNA	29391264
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in decreased expression of GLDC mRNA	30165855
D004958	Estradiol	Estradiol results in decreased expression of GLDC mRNA	20106945
D000431	Ethanol	Ethanol results in increased expression of GLDC mRNA	24355176
D000431	Ethanol	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of GLDC mRNA	29432896
D000431	Ethanol	Ethanol affects the expression of GLDC mRNA	30319688
D000431	Ethanol	Ethanol affects the splicing of GLDC mRNA	30319688
D000431	Ethanol	Ethanol results in increased expression of GLDC mRNA	30319688
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in decreased expression of GLDC mRNA	23649840
D017313	Fenretinide	Fenretinide results in increased expression of GLDC mRNA	28973697
D005485	Flutamide	Flutamide results in decreased expression of GLDC mRNA	24136188
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of GLDC mRNA	20938992
D005557	Formaldehyde	Formaldehyde results in decreased expression of GLDC mRNA	23649840
D005742	Gasoline	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of GLDC mRNA	29432896
D005742	Gasoline	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of GLDC mRNA	29432896
D005742	Gasoline	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of GLDC mRNA	29432896
D005742	Gasoline	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of GLDC mRNA	29432896
D019833	Genistein	Genistein results in increased expression of GLDC mRNA	20884965
D005839	Gentamicins	Gentamicins results in decreased expression of GLDC protein	21081137; 22061828;
C063170	Ginkgo biloba extract	Ginkgo biloba extract results in decreased expression of GLDC mRNA	31278416
C412815	GW 4064	GW 4064 results in increased expression of GLDC mRNA	26655953
C016517	indole-3-carbinol	indole-3-carbinol affects the expression of GLDC mRNA	21396975
C040507	isobutyl alcohol	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of GLDC mRNA	29432896
D015474	Isotretinoin	Isotretinoin results in decreased expression of GLDC mRNA	20436886
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of GLDC mRNA	22904298
C410337	K 7174	K 7174 results in decreased expression of GLDC mRNA	24086573
C017461	lead nitrate	[nickel chloride co-treated with lead nitrate] results in increased expression of GLDC mRNA	19187980
D008627	Mercuric Chloride	Mercuric Chloride results in decreased expression of GLDC mRNA	16507785
D008701	Methapyrilene	Methapyrilene results in decreased expression of GLDC mRNA	30467583
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of GLDC mRNA	20938992
D008727	Methotrexate	Methotrexate affects the expression of GLDC mRNA	18502557
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of GLDC mRNA	23649840
C000627226	momfluorothrin	momfluorothrin results in decreased expression of GLDC mRNA	28520973
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of GLDC mRNA	25554681
C031721	naphthalene	naphthalene results in increased expression of GLDC mRNA	18978301
C051752	nefazodone	nefazodone results in decreased expression of GLDC mRNA	24136188
C022838	nickel chloride	[nickel chloride co-treated with lead nitrate] results in increased expression of GLDC mRNA	19187980
C022838	nickel chloride	nickel chloride results in increased expression of GLDC mRNA	19187980
C012655	nimesulide	nimesulide results in decreased expression of GLDC mRNA	24136188
D052638	Particulate Matter	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of GLDC mRNA	29432896
D052638	Particulate Matter	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of GLDC mRNA	29432896
D052638	Particulate Matter	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of GLDC mRNA	29432896
D052638	Particulate Matter	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of GLDC mRNA	29432896
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of GLDC mRNA	19162173
D010634	Phenobarbital	[Diethylnitrosamine co-treated with Phenobarbital] results in decreased expression of GLDC mRNA	24535843
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of GLDC mRNA	19710929
C006253	pirinixic acid	pirinixic acid results in decreased expression of GLDC mRNA	23811191
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of GLDC mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of GLDC mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of GLDC mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of GLDC mRNA	29432896
C027373	potassium chromate(VI)	potassium chromate(VI) results in increased expression of GLDC mRNA	22714537
D017035	Pravastatin	Pravastatin results in decreased expression of GLDC mRNA	27225895
D011374	Progesterone	Progesterone results in decreased expression of GLDC mRNA	20631399
D011374	Progesterone	Progesterone results in increased expression of GLDC mRNA	22238285
C005556	propionaldehyde	propionaldehyde results in increased expression of GLDC mRNA	26079696
D011441	Propylthiouracil	Propylthiouracil results in increased expression of GLDC mRNA	24780913; 25825206;
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of GLDC mRNA	27029645
D011794	Quercetin	Quercetin results in decreased expression of GLDC mRNA	21632981
D011794	Quercetin	Quercetin results in increased expression of GLDC mRNA	16455785
D012906	Smoke	Decitabine inhibits the reaction [Smoke results in decreased expression of GLDC mRNA]	21095227
D012906	Smoke	Smoke results in decreased expression of GLDC mRNA	21095227
C009277	sodium arsenate	sodium arsenate results in decreased expression of GLDC mRNA	23922661
C017947	sodium arsenite	sodium arsenite results in decreased expression of GLDC mRNA	29361514
C017947	sodium arsenite	sodium arsenite results in decreased expression of GLDC mRNA	29301061
D012999	Soman	Soman results in increased expression of GLDC mRNA	19281266
D053260	Soot	Soot results in increased expression of GLDC mRNA	26551751
C075117	squalestatin 1	squalestatin 1 affects the expression of GLDC mRNA	27225895
C075117	squalestatin 1	squalestatin 1 results in increased expression of GLDC mRNA	27225895
D000077210	Sunitinib	Sunitinib results in decreased expression of GLDC mRNA	31533062
D013605	T-2 Toxin	T-2 Toxin results in increased expression of GLDC mRNA	31299295
D016559	Tacrolimus	Tacrolimus results in decreased expression of GLDC mRNA	25270620
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in increased expression of GLDC mRNA	18804290
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of GLDC mRNA	18061397; 20106945; 21632981; 21998131;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of GLDC mRNA	18343893; 21570461;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of GLDC mRNA	19770486; 28922406;
D019284	Thapsigargin	Thapsigargin results in decreased expression of GLDC mRNA	22378314
D013893	Thiram	Thiram results in decreased expression of GLDC mRNA	20530235
C024746	tobacco tar	tobacco tar results in increased expression of GLDC mRNA	19559774
D014212	Tretinoin	Tretinoin results in decreased expression of GLDC mRNA	21934132; 23724009;
D014260	Triclosan	Triclosan results in increased expression of GLDC mRNA	29596926
D014260	Triclosan	Triclosan results in decreased expression of GLDC mRNA	30510588
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of GLDC mRNA	26179874
D014415	Tunicamycin	Tunicamycin results in decreased expression of GLDC mRNA	22378314
C406224	valdecoxib	valdecoxib results in decreased expression of GLDC mRNA	24136188
D014635	Valproic Acid	Valproic Acid affects the expression of GLDC mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of GLDC mRNA	29501571
D014635	Valproic Acid	Valproic Acid results in increased expression of GLDC mRNA	23179753
D014635	Valproic Acid	Valproic Acid results in increased methylation of GLDC gene	29501571
D014638	Vanadates	Vanadates results in decreased expression of GLDC mRNA	22714537
C029297	vinylidene chloride	vinylidene chloride results in decreased expression of GLDC mRNA	26682919
D024483	Vitamin K 3	Vitamin K 3 affects the expression of GLDC mRNA	20044591
D015032	Zinc	Zinc deficiency results in increased expression of GLDC mRNA	22171008

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0007	Acetylation
KW-0225	Disease mutation
KW-0496	Mitochondrion
KW-0560	Oxidoreductase
KW-0663	Pyridoxal phosphate
KW-1185	Reference proteome
KW-0809	Transit peptide

Interpro

InterPro ID	InterPro Term
IPR001597	ArAA_b-elim_lyase/Thr_aldolase
IPR003437	GcvP
IPR020581	GDC_P
IPR015424	PyrdxlP-dep_Trfase
IPR015422	PyrdxlP-dep_Trfase_dom1
IPR015421	PyrdxlP-dep_Trfase_major

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF01212	Beta_elim_lyase
PF02347	GDC-P

Gene: GLDC

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction