CleftGeneDB-Search

Gene: SLC12A5

Basic information

Tag	Content
Uniprot ID	Q9H2X9; A2RTX2; Q5VZ41; Q9H4Z0; Q9ULP4;
Entrez ID	57468
Genbank protein ID	AAI32669.1; BAA86490.1; AAI32671.1; AAG43493.1;
Genbank nucleotide ID	NM_020708.4; NM_001134771.1;
Ensembl protein ID	ENSP00000243964; ENSP00000387694;
Ensembl nucleotide ID	ENSG00000124140
Gene name	Solute carrier family 12 member 5
Gene symbol	SLC12A5
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Mediates electroneutral potassium-chloride cotransport in mature neurons and is required for neuronal Cl(-) homeostasis. As major extruder of intracellular chloride, it establishes the low neuronal Cl(-) levels required for chloride influx after binding of GABA-A and glycine to their receptors, with subsequent hyperpolarization and neuronal inhibition (By similarity). Involved in the regulation of dendritic spine formation and maturation (PubMed:24668262).
Sequence	MSRRFTVTSL PPAGPARSPD PESRRHSVAD PRHLPGEDVK GDGNPKESSP FINSTDTEKG 60 KEYDGKNMAL FEEEMDTSPM VSSLLSGLAN YTNLPQGSRE HEEAENNEGG KKKPVQAPRM 120 GTFMGVYLPC LQNIFGVILF LRLTWVVGIA GIMESFCMVF ICCSCTMLTA ISMSAIATNG 180 VVPAGGSYYM ISRSLGPEFG GAVGLCFYLG TTFAGAMYIL GTIEILLAYL FPAMAIFKAE 240 DASGEAAAML NNMRVYGTCV LTCMATVVFV GVKYVNKFAL VFLGCVILSI LAIYAGVIKS 300 AFDPPNFPIC LLGNRTLSRH GFDVCAKLAW EGNETVTTRL WGLFCSSRFL NATCDEYFTR 360 NNVTEIQGIP GAASGLIKEN LWSSYLTKGV IVERSGMTSV GLADGTPIDM DHPYVFSDMT 420 SYFTLLVGIY FPSVTGIMAG SNRSGDLRDA QKSIPTGTIL AIATTSAVYI SSVVLFGACI 480 EGVVLRDKFG EAVNGNLVVG TLAWPSPWVI VIGSFFSTCG AGLQSLTGAP RLLQAISRDG 540 IVPFLQVFGH GKANGEPTWA LLLTACICEI GILIASLDEV APILSMFFLM CYMFVNLACA 600 VQTLLRTPNW RPRFRYYHWT LSFLGMSLCL ALMFICSWYY ALVAMLIAGL IYKYIEYRGA 660 EKEWGDGIRG LSLSAARYAL LRLEEGPPHT KNWRPQLLVL VRVDQDQNVV HPQLLSLTSQ 720 LKAGKGLTIV GSVLEGTFLE NHPQAQRAEE SIRRLMEAEK VKGFCQVVIS SNLRDGVSHL 780 IQSGGLGGLQ HNTVLVGWPR NWRQKEDHQT WRNFIELVRE TTAGHLALLV TKNVSMFPGN 840 PERFSEGSID VWWIVHDGGM LMLLPFLLRH HKVWRKCKMR IFTVAQMDDN SIQMKKDLTT 900 FLYHLRITAE VEVVEMHESD ISAYTYEKTL VMEQRSQILK QMHLTKNERE REIQSITDES 960 RGSIRRKNPA NTRLRLNVPE ETAGDSEEKP EEEVQLIHDQ SAPSCPSSSP SPGEEPEGEG 1020 ETDPEKVHLT WTKDKSVAEK NKGPSPVSSE GIKDFFSMKP EWENLNQSNV RRMHTAVRLN 1080 EVIVKKSRDA KLVLLNMPGP PRNRNGDENY MEFLEVLTEH LDRVMLVRGG GREVITIYS 1139

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 in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	SLC12A5	510157	A8KC65		Bos taurus	Prediction	More>>
1:1 ortholog	SLC12A5		A0A452EYG1		Capra hircus	Prediction	More>>
1:1 ortholog	SLC12A5	57468	Q9H2X9		Homo sapiens	Prediction	More>>
1:1 ortholog	Slc12a5	57138	Q91V14	CPO	Mus musculus	Publication	More>>
1:1 ortholog	SLC12A5		A0A2I3RM58		Pan troglodytes	Prediction	More>>
1:1 ortholog		100155991	A0A4X1U3U5		Sus scrofa	Prediction	More>>
1:1 ortholog	Slc12a5		F1LNP4		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1398551475	p.Ser2Cys	missense variant	-	NC_000020.11:g.46021769A>T	gnomAD
rs1423123160	p.Arg3His	missense variant	-	NC_000020.11:g.46021773G>A	TOPMed
rs914602539	p.Thr6Ala	missense variant	-	NC_000020.11:g.46021781A>G	TOPMed,gnomAD
rs1232596805	p.Leu10Arg	missense variant	-	NC_000020.11:g.46021794T>G	TOPMed,gnomAD
rs779070903	p.Pro11Arg	missense variant	-	NC_000020.11:g.46021797C>G	ExAC,TOPMed,gnomAD
rs1347395340	p.Pro11Ser	missense variant	-	NC_000020.11:g.46021796C>T	TOPMed,gnomAD
rs779070903	p.Pro11Leu	missense variant	-	NC_000020.11:g.46021797C>T	ExAC,TOPMed,gnomAD
rs1347395340	p.Pro11Ala	missense variant	-	NC_000020.11:g.46021796C>G	TOPMed,gnomAD
rs1351713527	p.Pro12Leu	missense variant	-	NC_000020.11:g.46021800C>T	TOPMed
NCI-TCGA novel	p.Ala13ArgPheSerTerUnk	frameshift	-	NC_000020.11:g.46021795_46021796insC	NCI-TCGA
rs758646898	p.Gly14Arg	missense variant	-	NC_000020.11:g.46021805G>A	ExAC,gnomAD
rs758646898	p.Gly14Arg	missense variant	-	NC_000020.11:g.46021805G>C	ExAC,gnomAD
rs1432569987	p.Pro15Ser	missense variant	-	NC_000020.11:g.46021808C>T	gnomAD
rs1196086840	p.Ala16Thr	missense variant	-	NC_000020.11:g.46021811G>A	TOPMed,gnomAD
rs1196086840	p.Ala16Ser	missense variant	-	NC_000020.11:g.46021811G>T	TOPMed,gnomAD
rs923751890	p.Arg17Gly	missense variant	-	NC_000020.11:g.46021814A>G	TOPMed,gnomAD
rs1434932008	p.Ser18Thr	missense variant	-	NC_000020.11:g.46021818G>C	TOPMed,gnomAD
rs747293767	p.Pro19His	missense variant	-	NC_000020.11:g.46021821C>A	ExAC,gnomAD
rs569855366	p.Asp20Gly	missense variant	-	NC_000020.11:g.46021824A>G	1000Genomes
rs1358271032	p.Pro21Gln	missense variant	-	NC_000020.11:g.46021827C>A	gnomAD
rs777681627	p.Arg24His	missense variant	-	NC_000020.11:g.46021836G>A	ExAC,TOPMed,gnomAD
rs1056105141	p.Arg24Gly	missense variant	-	NC_000020.11:g.46021835C>G	TOPMed,gnomAD
rs1056105141	p.Arg24Cys	missense variant	-	NC_000020.11:g.46021835C>T	TOPMed,gnomAD
rs555710024	p.Arg25Gln	missense variant	-	NC_000020.11:g.46021839G>A	1000Genomes,gnomAD
rs555710024	p.Arg25Pro	missense variant	-	NC_000020.11:g.46021839G>C	1000Genomes,gnomAD
rs1308749080	p.Ser27Pro	missense variant	-	NC_000020.11:g.46021844T>C	gnomAD
rs943776034	p.Val28Phe	missense variant	-	NC_000020.11:g.46021847G>T	TOPMed
rs1040806604	p.Arg32His	missense variant	-	NC_000020.11:g.46021860G>A	TOPMed
rs1208047454	p.His33Pro	missense variant	-	NC_000020.11:g.46021863A>C	gnomAD
rs995737900	p.Pro35Thr	missense variant	-	NC_000020.11:g.46021868C>A	TOPMed,gnomAD
rs1447779774	p.Gly36Val	missense variant	-	NC_000020.11:g.46021872G>T	TOPMed
rs1378078277	p.Glu37Lys	missense variant	-	NC_000020.11:g.46021874G>A	gnomAD
rs773808264	p.Asp38Asn	missense variant	-	NC_000020.11:g.46021877G>A	ExAC,TOPMed,gnomAD
rs1334333249	p.Asp38Gly	missense variant	-	NC_000020.11:g.46021878A>G	TOPMed
rs759067394	p.Val39Ala	missense variant	-	NC_000020.11:g.46021881T>C	ExAC,gnomAD
rs951494703	p.Val39Ile	missense variant	-	NC_000020.11:g.46021880G>A	TOPMed,gnomAD
rs951494703	p.Val39Phe	missense variant	-	NC_000020.11:g.46021880G>T	TOPMed,gnomAD
rs759067394	p.Val39Asp	missense variant	-	NC_000020.11:g.46021881T>A	ExAC,gnomAD
rs1269925327	p.Lys40Arg	missense variant	-	NC_000020.11:g.46021884A>G	TOPMed
rs1397360375	p.Gly41Cys	missense variant	-	NC_000020.11:g.46021886G>T	gnomAD
rs1156589458	p.Gly43Asp	missense variant	-	NC_000020.11:g.46034954G>A	gnomAD
COSM3547162	p.Gly43Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46034953G>A	NCI-TCGA Cosmic
COSM1027401	p.Asn44Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46034957A>C	NCI-TCGA Cosmic
COSM3547163	p.Glu47Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46034965G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser48Ile	missense variant	-	NC_000020.11:g.46034969G>T	NCI-TCGA
rs371579421	p.Pro50Ala	missense variant	-	NC_000020.11:g.46034974C>G	ESP,ExAC,gnomAD
rs371579421	p.Pro50Ser	missense variant	-	NC_000020.11:g.46034974C>T	ESP,ExAC,gnomAD
rs776814751	p.Phe51Val	missense variant	-	NC_000020.11:g.46034977T>G	ExAC,gnomAD
COSM1326705	p.Ile52Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46034980A>C	NCI-TCGA Cosmic
COSM1027402	p.Ser54Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46034987G>A	NCI-TCGA Cosmic
rs765735382	p.Thr55Ser	missense variant	-	NC_000020.11:g.46034990C>G	ExAC,gnomAD
rs534826231	p.Asp56Asn	missense variant	-	NC_000020.11:g.46034992G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1256641220	p.Asp56Gly	missense variant	-	NC_000020.11:g.46034993A>G	TOPMed
rs1375691617	p.Glu58Gln	missense variant	-	NC_000020.11:g.46034998G>C	gnomAD
NCI-TCGA novel	p.Glu58Lys	missense variant	-	NC_000020.11:g.46034998G>A	NCI-TCGA
COSM1027403	p.Glu58Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46035000G>T	NCI-TCGA Cosmic
rs970629633	p.Lys59Asn	missense variant	-	NC_000020.11:g.46035003G>C	TOPMed,gnomAD
rs1237589662	p.Lys59Thr	missense variant	-	NC_000020.11:g.46035002A>C	gnomAD
NCI-TCGA novel	p.Lys59Asn	missense variant	-	NC_000020.11:g.46035003G>T	NCI-TCGA
rs997875786	p.Gly60Ala	missense variant	-	NC_000020.11:g.46035005G>C	TOPMed
rs766307074	p.Lys61Asn	missense variant	-	NC_000020.11:g.46035009G>T	ExAC,gnomAD
rs376521903	p.Glu62Val	missense variant	-	NC_000020.11:g.46035011A>T	ESP,TOPMed,gnomAD
rs866490815	p.Asp64Asn	missense variant	-	NC_000020.11:g.46035016G>A	TOPMed
rs866490815	p.Asp64Tyr	missense variant	-	NC_000020.11:g.46035016G>T	TOPMed
rs755114147	p.Asp64Glu	missense variant	-	NC_000020.11:g.46035018T>A	ExAC,gnomAD
rs1281331190	p.Gly65Asp	missense variant	-	NC_000020.11:g.46035020G>A	TOPMed
COSM3841166	p.Lys66Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46035024G>C	NCI-TCGA Cosmic
COSM1027404	p.Lys66Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46035024G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala69Thr	missense variant	-	NC_000020.11:g.46035031G>A	NCI-TCGA
NCI-TCGA novel	p.Glu73Ter	stop gained	-	NC_000020.11:g.46035404G>T	NCI-TCGA
COSM3911472	p.Glu73Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46035404G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro79His	missense variant	-	NC_000020.11:g.46035423C>A	NCI-TCGA
rs1376239329	p.Met80Ile	missense variant	-	NC_000020.11:g.46035427G>A	TOPMed
rs1253185557	p.Ser86Gly	missense variant	-	NC_000020.11:g.46035443A>G	gnomAD
COSM6160123	p.Ala89Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46035452G>T	NCI-TCGA Cosmic
rs376057527	p.Asn90Ser	missense variant	-	NC_000020.11:g.46035456A>G	ESP,ExAC,TOPMed,gnomAD
COSM3547165	p.Thr92Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46035462C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn93Tyr	missense variant	-	NC_000020.11:g.46035464A>T	NCI-TCGA
NCI-TCGA novel	p.Asn93Thr	missense variant	-	NC_000020.11:g.46035465A>C	NCI-TCGA
NCI-TCGA novel	p.Gly97Glu	missense variant	-	NC_000020.11:g.46035477G>A	NCI-TCGA
rs1262361628	p.Arg99Met	missense variant	-	NC_000020.11:g.46035483G>T	gnomAD
rs999424731	p.Glu103Lys	missense variant	-	NC_000020.11:g.46035494G>A	TOPMed
NCI-TCGA novel	p.Glu103Ter	stop gained	-	NC_000020.11:g.46035494G>T	NCI-TCGA
rs775553338	p.Asn107Asp	missense variant	-	NC_000020.11:g.46035506A>G	ExAC,gnomAD
rs760847747	p.Asn107Ser	missense variant	-	NC_000020.11:g.46035507A>G	ExAC,gnomAD
rs1035057549	p.Glu108Asp	missense variant	-	NC_000020.11:g.46035511G>T	TOPMed,gnomAD
COSM6160121	p.Glu108Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46035509G>A	NCI-TCGA Cosmic
rs370812585	p.Gly109Ser	missense variant	-	NC_000020.11:g.46035512G>A	ESP,ExAC,gnomAD
rs754112372	p.Gly110Glu	missense variant	-	NC_000020.11:g.46035516G>A	ExAC,gnomAD
COSM3294234	p.Lys112ArgPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.46035517A>-	NCI-TCGA Cosmic
rs1436913904	p.Pro114Gln	missense variant	-	NC_000020.11:g.46035528C>A	TOPMed,gnomAD
rs1436913904	p.Pro114Leu	missense variant	-	NC_000020.11:g.46035528C>T	TOPMed,gnomAD
rs1384828234	p.Val115Ala	missense variant	-	NC_000020.11:g.46035531T>C	gnomAD
rs1352410757	p.Gln116Pro	missense variant	-	NC_000020.11:g.46035534A>C	TOPMed
COSM6093508	p.Gln116Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46035534A>T	NCI-TCGA Cosmic
rs780511606	p.Pro118Leu	missense variant	-	NC_000020.11:g.46035781C>T	ExAC,TOPMed,gnomAD
RCV000444362	p.Pro118Leu	missense variant	-	NC_000020.11:g.46035781C>T	ClinVar
rs145700012	p.Arg119Cys	missense variant	-	NC_000020.11:g.46035783C>T	ESP,ExAC,TOPMed,gnomAD
rs756873079	p.Arg119His	missense variant	-	NC_000020.11:g.46035784G>A	ExAC,TOPMed,gnomAD
rs1045930238	p.Gly121Asp	missense variant	-	NC_000020.11:g.46035790G>A	TOPMed
rs1316729616	p.Thr122Ile	missense variant	-	NC_000020.11:g.46035793C>T	gnomAD
rs1461441247	p.Thr122Ser	missense variant	-	NC_000020.11:g.46035792A>T	gnomAD
rs1396711146	p.Phe123Ile	missense variant	-	NC_000020.11:g.46035795T>A	gnomAD
rs1344934837	p.Gly125Asp	missense variant	-	NC_000020.11:g.46035802G>A	gnomAD
rs769936625	p.Tyr127Ser	missense variant	-	NC_000020.11:g.46035808A>C	ExAC,gnomAD
COSM6160119	p.Pro129Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46035814C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln132His	missense variant	-	NC_000020.11:g.46035824G>T	NCI-TCGA
rs760750912	p.Val137Ile	missense variant	-	NC_000020.11:g.46035837G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp145GlyPheSerTerUnkUnk	frameshift	-	NC_000020.11:g.46035859C>-	NCI-TCGA
rs764778167	p.Val146Leu	missense variant	-	NC_000020.11:g.46035864G>C	ExAC,gnomAD
NCI-TCGA novel	p.Val147Met	missense variant	-	NC_000020.11:g.46035867G>A	NCI-TCGA
NCI-TCGA novel	p.Gly148Asp	missense variant	-	NC_000020.11:g.46035871G>A	NCI-TCGA
rs758760799	p.Ile149Thr	missense variant	-	NC_000020.11:g.46035874T>C	ExAC,gnomAD
rs1177990487	p.Met153Val	missense variant	-	NC_000020.11:g.46035885A>G	TOPMed
rs377612895	p.Cys157Tyr	missense variant	-	NC_000020.11:g.46035898G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val159Met	missense variant	-	NC_000020.11:g.46035903G>A	NCI-TCGA
rs755477453	p.Ile161Phe	missense variant	-	NC_000020.11:g.46035909A>T	ExAC,gnomAD
rs781288039	p.Ile161Met	missense variant	-	NC_000020.11:g.46035911C>G	ExAC,gnomAD
rs748195551	p.Cys162Ter	stop gained	-	NC_000020.11:g.46035914C>A	ExAC,gnomAD
rs764963565	p.Thr166Met	missense variant	-	NC_000020.11:g.46036742C>T	gnomAD
rs1025149041	p.Ala170Thr	missense variant	-	NC_000020.11:g.46036753G>A	TOPMed
COSM3547168	p.Ser172Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46036759T>C	NCI-TCGA Cosmic
rs1232510406	p.Ser174Gly	missense variant	-	NC_000020.11:g.46036765A>G	gnomAD
rs1272343118	p.Ser174Asn	missense variant	-	NC_000020.11:g.46036766G>A	TOPMed
rs1443484042	p.Ala175Val	missense variant	-	NC_000020.11:g.46036769C>T	gnomAD
NCI-TCGA novel	p.Ala177Thr	missense variant	-	NC_000020.11:g.46036774G>A	NCI-TCGA
NCI-TCGA novel	p.Ala177Ser	missense variant	-	NC_000020.11:g.46036774G>T	NCI-TCGA
COSM2156498	p.Thr178Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46036777A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn179Ser	missense variant	-	NC_000020.11:g.46036781A>G	NCI-TCGA
rs746779486	p.Val181Phe	missense variant	-	NC_000020.11:g.46036786G>T	ExAC,gnomAD
COSM6160117	p.Pro183Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46036792C>A	NCI-TCGA Cosmic
COSM6160115	p.Tyr188Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.46037268C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Met190Leu	missense variant	-	NC_000020.11:g.46037272A>T	NCI-TCGA
NCI-TCGA novel	p.Arg193Lys	missense variant	-	NC_000020.11:g.46037282G>A	NCI-TCGA
COSM4837846	p.Leu195Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46037287C>G	NCI-TCGA Cosmic
rs1215655976	p.Pro197Ser	missense variant	-	NC_000020.11:g.46037293C>T	gnomAD
rs770465664	p.Phe199Leu	missense variant	-	NC_000020.11:g.46037301T>G	ExAC,TOPMed,gnomAD
COSM443925	p.Gly200Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46037302G>T	NCI-TCGA Cosmic
rs917519292	p.Gly201Ser	missense variant	-	NC_000020.11:g.46037305G>A	TOPMed,gnomAD
rs917519292	p.Gly201Arg	missense variant	-	NC_000020.11:g.46037305G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Val203Met	missense variant	-	NC_000020.11:g.46037311G>A	NCI-TCGA
COSM4098959	p.Tyr208Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46037326T>A	NCI-TCGA Cosmic
rs767714693	p.Leu209Val	missense variant	-	NC_000020.11:g.46037329C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu209Met	missense variant	-	NC_000020.11:g.46037329C>A	NCI-TCGA
COSM724399	p.Gly210Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46037333G>T	NCI-TCGA Cosmic
rs1415620488	p.Thr212Ile	missense variant	-	NC_000020.11:g.46037339C>T	gnomAD
RCV000761573	p.Ala214Val	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46037345C>T	ClinVar
rs1395317060	p.Leu220Arg	missense variant	-	NC_000020.11:g.46037363T>G	gnomAD
NCI-TCGA novel	p.Gly221Asp	missense variant	-	NC_000020.11:g.46037366G>A	NCI-TCGA
rs1180292621	p.Thr222Ala	missense variant	-	NC_000020.11:g.46037368A>G	gnomAD
rs1330496933	p.Ile223Val	missense variant	-	NC_000020.11:g.46037371A>G	gnomAD
rs868598822	p.Glu224Lys	missense variant	-	NC_000020.11:g.46037374G>A	-
COSM4754131	p.Leu226Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46037380C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro232Gln	missense variant	-	NC_000020.11:g.46040386C>A	NCI-TCGA
rs140635575	p.Ala233Thr	missense variant	-	NC_000020.11:g.46040388G>A	ESP,ExAC,gnomAD
rs1444731225	p.Met234Thr	missense variant	-	NC_000020.11:g.46040392T>C	gnomAD
rs1194765378	p.Ala235Thr	missense variant	-	NC_000020.11:g.46040394G>A	gnomAD
rs1194765378	p.Ala235Ser	missense variant	-	NC_000020.11:g.46040394G>T	gnomAD
rs370495847	p.Ile236Val	missense variant	-	NC_000020.11:g.46040397A>G	ESP,gnomAD
rs1453486986	p.Lys238Arg	missense variant	-	NC_000020.11:g.46040404A>G	gnomAD
COSM3799594	p.Lys238Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46040403A>G	NCI-TCGA Cosmic
rs1393595000	p.Glu245Asp	missense variant	-	NC_000020.11:g.46040426G>T	gnomAD
rs764620289	p.Ala247Val	missense variant	-	NC_000020.11:g.46040431C>T	ExAC,gnomAD
COSM1412137	p.Asn252Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46040446A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Met253Ile	missense variant	-	NC_000020.11:g.46040450G>A	NCI-TCGA
rs1555863134	p.Arg254His	missense variant	-	NC_000020.11:g.46040452G>A	-
RCV000522855	p.Arg254His	missense variant	-	NC_000020.11:g.46040452G>A	ClinVar
RCV000687568	p.Arg254His	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46040452G>A	ClinVar
COSM4726424	p.Arg254Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46040451C>T	NCI-TCGA Cosmic
rs1555863136	p.Val255Ile	missense variant	-	NC_000020.11:g.46040454G>A	-
RCV000552492	p.Val255Ile	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46040454G>A	ClinVar
rs777269119	p.Tyr256Cys	missense variant	-	NC_000020.11:g.46040458A>G	ExAC,gnomAD
rs765343735	p.Gly257Ser	missense variant	-	NC_000020.11:g.46040460G>A	ExAC,gnomAD
NCI-TCGA novel	p.Cys259ValPheSerTerUnkUnk	frameshift	-	NC_000020.11:g.46040464_46040465insAGTCA	NCI-TCGA
NCI-TCGA novel	p.Cys259Ser	missense variant	-	NC_000020.11:g.46040466T>A	NCI-TCGA
RCV000652720	p.Val260Ter	frameshift	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46040466_46040467TG[2]	ClinVar
rs763034305	p.Thr262Ile	missense variant	-	NC_000020.11:g.46040476C>T	ExAC,gnomAD
rs766598411	p.Met264Ile	missense variant	-	NC_000020.11:g.46040483G>A	ExAC,gnomAD
COSM1225880	p.Ala265Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46040485C>T	NCI-TCGA Cosmic
rs777601251	p.Lys273Asn	missense variant	-	NC_000020.11:g.46040510G>T	ExAC,TOPMed,gnomAD
rs915523015	p.Val281Ile	missense variant	-	NC_000020.11:g.46040532G>A	TOPMed,gnomAD
rs1365573127	p.Ala292Ser	missense variant	-	NC_000020.11:g.46040565G>T	TOPMed
rs753714930	p.Ile293Val	missense variant	-	NC_000020.11:g.46040568A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly296Val	missense variant	-	NC_000020.11:g.46040578G>T	NCI-TCGA
rs757191446	p.Val297Phe	missense variant	-	NC_000020.11:g.46040580G>T	ExAC,gnomAD
rs778354058	p.Lys299Arg	missense variant	-	NC_000020.11:g.46040587A>G	ExAC,gnomAD
rs1192039338	p.Asp303Gly	missense variant	-	NC_000020.11:g.46040599A>G	TOPMed
rs779753942	p.Asp303Glu	missense variant	-	NC_000020.11:g.46040600C>A	ExAC,gnomAD
COSM443926	p.Asp303Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46040598G>T	NCI-TCGA Cosmic
rs1002921147	p.Pro304Leu	missense variant	-	NC_000020.11:g.46040602C>T	TOPMed
rs1452331627	p.Pro305Ala	missense variant	-	NC_000020.11:g.46040604C>G	gnomAD
rs1228721017	p.Asn306Ser	missense variant	-	NC_000020.11:g.46040608A>G	TOPMed
RCV000530913	p.Phe307Cys	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46040611T>G	ClinVar
rs1213597825	p.Phe307Cys	missense variant	-	NC_000020.11:g.46040611T>G	TOPMed,gnomAD
COSM1265673	p.Phe307Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46040610T>G	NCI-TCGA Cosmic
rs1389384303	p.Pro308Leu	missense variant	-	NC_000020.11:g.46040614C>T	gnomAD
rs746699276	p.Pro308Ser	missense variant	-	NC_000020.11:g.46040613C>T	ExAC,gnomAD
rs863225306	p.Leu311His	missense variant	Epileptic encephalopathy, early infantile, 34 (EIEE34)	NC_000020.11:g.46041337T>A	UniProt,dbSNP
VAR_075078	p.Leu311His	missense variant	Epileptic encephalopathy, early infantile, 34 (EIEE34)	NC_000020.11:g.46041337T>A	UniProt
rs863225306	p.Leu311His	missense variant	-	NC_000020.11:g.46041337T>A	-
RCV000202151	p.Leu311His	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46041337T>A	ClinVar
NCI-TCGA novel	p.Leu311Arg	missense variant	-	NC_000020.11:g.46041337T>G	NCI-TCGA
rs759713656	p.Gly313Ser	missense variant	-	NC_000020.11:g.46041342G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg315His	missense variant	-	NC_000020.11:g.46041349G>A	NCI-TCGA
rs1249292839	p.Thr316Met	missense variant	-	NC_000020.11:g.46041352C>T	gnomAD
rs761591986	p.Leu317Met	missense variant	-	NC_000020.11:g.46041354C>A	ExAC,TOPMed,gnomAD
COSM3547171	p.Ser318Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46041358C>T	NCI-TCGA Cosmic
rs750318221	p.Arg319Cys	missense variant	-	NC_000020.11:g.46041360C>T	ExAC,gnomAD
rs114371269	p.Arg319His	missense variant	-	NC_000020.11:g.46041361G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1317503439	p.Gly321Ala	missense variant	-	NC_000020.11:g.46041367G>C	TOPMed
rs751140061	p.Ala326Gly	missense variant	-	NC_000020.11:g.46041382C>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu328Met	missense variant	-	NC_000020.11:g.46041387C>A	NCI-TCGA
rs1311335449	p.Trp330Arg	missense variant	-	NC_000020.11:g.46041393T>C	TOPMed
rs1371576683	p.Gly332Glu	missense variant	-	NC_000020.11:g.46041400G>A	gnomAD
COSM3547172	p.Gly332Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46041399G>A	NCI-TCGA Cosmic
rs754580155	p.Asn333Ser	missense variant	-	NC_000020.11:g.46041403A>G	ExAC,gnomAD
COSM3371703	p.Glu334Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46041405G>C	NCI-TCGA Cosmic
rs780957586	p.Thr335Met	missense variant	-	NC_000020.11:g.46041409C>T	ExAC,TOPMed,gnomAD
rs966756478	p.Val336Ala	missense variant	-	NC_000020.11:g.46041412T>C	TOPMed
rs138569099	p.Val336Leu	missense variant	-	NC_000020.11:g.46041411G>T	ESP,ExAC,TOPMed,gnomAD
rs138569099	p.Val336Met	missense variant	-	NC_000020.11:g.46041411G>A	ESP,ExAC,TOPMed,gnomAD
rs1379213711	p.Thr337Ser	missense variant	-	NC_000020.11:g.46041415C>G	gnomAD
rs1346359518	p.Thr337Ala	missense variant	-	NC_000020.11:g.46041414A>G	TOPMed
NCI-TCGA novel	p.Thr338Ala	missense variant	-	NC_000020.11:g.46041417A>G	NCI-TCGA
rs373725781	p.Arg339Trp	missense variant	-	NC_000020.11:g.46041420C>T	ESP,ExAC,TOPMed,gnomAD
rs144471748	p.Arg339Gln	missense variant	-	NC_000020.11:g.46041421G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775678070	p.Leu340Ile	missense variant	-	NC_000020.11:g.46041423C>A	ExAC,gnomAD
rs1259210706	p.Trp341Ter	stop gained	-	NC_000020.11:g.46041427G>A	TOPMed
RCV000761574	p.Trp341Ser	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46041427G>C	ClinVar
rs371544733	p.Gly342Asp	missense variant	-	NC_000020.11:g.46041430G>A	ESP,ExAC,TOPMed,gnomAD
rs765018314	p.Gly342Ser	missense variant	-	NC_000020.11:g.46041429G>A	ExAC,TOPMed,gnomAD
rs916790849	p.Leu343Phe	missense variant	-	NC_000020.11:g.46041432C>T	TOPMed,gnomAD
rs1358479351	p.Ser346Phe	missense variant	-	NC_000020.11:g.46041442C>T	TOPMed
RCV000761575	p.Ser346Pro	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46041441T>C	ClinVar
rs1220094830	p.Ser346Ala	missense variant	-	NC_000020.11:g.46041441T>G	TOPMed
rs766208736	p.Arg348Gly	missense variant	-	NC_000020.11:g.46041447C>G	ExAC
rs751583991	p.Arg348His	missense variant	-	NC_000020.11:g.46041448G>A	ExAC,TOPMed,gnomAD
COSM3547174	p.Phe349Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46041450T>C	NCI-TCGA Cosmic
RCV000556073	p.Asn351Ter	frameshift	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46041454dup	ClinVar
rs767192319	p.Ala352Ser	missense variant	-	NC_000020.11:g.46041459G>T	ExAC,TOPMed,gnomAD
rs767192319	p.Ala352Thr	missense variant	-	NC_000020.11:g.46041459G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr353Ile	missense variant	-	NC_000020.11:g.46041463C>T	NCI-TCGA
rs752337511	p.Glu356Asp	missense variant	-	NC_000020.11:g.46041473A>C	ExAC,TOPMed,gnomAD
rs376919183	p.Thr359Ser	missense variant	-	NC_000020.11:g.46041481C>G	ESP,ExAC,TOPMed,gnomAD
rs778157213	p.Thr359Ala	missense variant	-	NC_000020.11:g.46041480A>G	ExAC,gnomAD
RCV000426425	p.Thr359Ala	missense variant	-	NC_000020.11:g.46041480A>G	ClinVar
rs1366907213	p.Arg360Ter	stop gained	-	NC_000020.11:g.46041483C>T	gnomAD
rs779389047	p.Arg360Gln	missense variant	-	NC_000020.11:g.46041484G>A	ExAC,gnomAD
COSM4844114	p.Asn361Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46041488C>A	NCI-TCGA Cosmic
rs772084547	p.Val363Ile	missense variant	-	NC_000020.11:g.46041492G>A	ExAC,gnomAD
rs1313338780	p.Glu365Val	missense variant	-	NC_000020.11:g.46041499A>T	gnomAD
rs1269112718	p.Ile366Thr	missense variant	-	NC_000020.11:g.46041502T>C	gnomAD
rs1215151629	p.Gln367Arg	missense variant	-	NC_000020.11:g.46041505A>G	gnomAD
NCI-TCGA novel	p.Gly368Arg	missense variant	-	NC_000020.11:g.46041507G>C	NCI-TCGA
rs1164675047	p.Pro370Leu	missense variant	-	NC_000020.11:g.46041514C>T	TOPMed
rs1189413482	p.Ala373Ser	missense variant	-	NC_000020.11:g.46041522G>T	gnomAD
NCI-TCGA novel	p.Ala373Asp	missense variant	-	NC_000020.11:g.46041523C>A	NCI-TCGA
COSM1027407	p.Glu379Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46043154G>T	NCI-TCGA Cosmic
rs200514600	p.Leu381Val	missense variant	-	NC_000020.11:g.46043158C>G	ExAC,gnomAD
COSM3911476	p.Leu381Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46043158C>T	NCI-TCGA Cosmic
COSM724396	p.Leu381Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46043158C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser384Tyr	missense variant	-	NC_000020.11:g.46043168C>A	NCI-TCGA
rs1202818249	p.Tyr385His	missense variant	-	NC_000020.11:g.46043170T>C	gnomAD
rs1254531482	p.Thr387Ile	missense variant	-	NC_000020.11:g.46043177C>T	TOPMed
rs778801242	p.Val390Met	missense variant	-	NC_000020.11:g.46043185G>A	ExAC,TOPMed,gnomAD
RCV000652721	p.Val390Met	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46043185G>A	ClinVar
rs1366142794	p.Arg394Ser	missense variant	-	NC_000020.11:g.46043199G>C	gnomAD
rs1258209252	p.Arg394Trp	missense variant	-	NC_000020.11:g.46043197A>T	TOPMed
rs1473512159	p.Ser395Ile	missense variant	-	NC_000020.11:g.46043201G>T	TOPMed,gnomAD
rs919297336	p.Gly396Arg	missense variant	-	NC_000020.11:g.46043203G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gly396Glu	missense variant	-	NC_000020.11:g.46043204G>A	NCI-TCGA
rs1455589492	p.Met397Val	missense variant	-	NC_000020.11:g.46043206A>G	gnomAD
rs772033105	p.Thr398Asn	missense variant	-	NC_000020.11:g.46043210C>A	ExAC,gnomAD
rs1306640440	p.Ser399Thr	missense variant	-	NC_000020.11:g.46043212T>A	gnomAD
RCV000761576	p.Ser399Leu	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46043213C>T	ClinVar
rs1277804171	p.Val400Ala	missense variant	-	NC_000020.11:g.46043216T>C	TOPMed
NCI-TCGA novel	p.Val400Met	missense variant	-	NC_000020.11:g.46043215G>A	NCI-TCGA
rs1410919515	p.Gly401Asp	missense variant	-	NC_000020.11:g.46043219G>A	gnomAD
COSM6093506	p.Leu402Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46043221C>A	NCI-TCGA Cosmic
rs776238585	p.Asp404Asn	missense variant	-	NC_000020.11:g.46043227G>A	ExAC,gnomAD
rs761325361	p.Gly405Asp	missense variant	-	NC_000020.11:g.46043231G>A	ExAC,gnomAD
rs1450320682	p.Gly405Cys	missense variant	-	NC_000020.11:g.46043230G>T	TOPMed,gnomAD
rs1450320682	p.Gly405Ser	missense variant	-	NC_000020.11:g.46043230G>A	TOPMed,gnomAD
rs201727005	p.Thr406Ile	missense variant	-	NC_000020.11:g.46043234C>T	1000Genomes,ExAC,gnomAD
rs16985442	p.Pro407Ala	missense variant	-	NC_000020.11:g.46043236C>G	UniProt,dbSNP
VAR_027414	p.Pro407Ala	missense variant	-	NC_000020.11:g.46043236C>G	UniProt
rs16985442	p.Pro407Ala	missense variant	-	NC_000020.11:g.46043236C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000525792	p.Pro407Ala	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46043236C>G	ClinVar
rs200798560	p.Asp409Asn	missense variant	-	NC_000020.11:g.46043242G>A	1000Genomes,gnomAD
rs771205120	p.Met410Ile	missense variant	-	NC_000020.11:g.46043247G>A	gnomAD
NCI-TCGA novel	p.Pro413Ser	missense variant	-	NC_000020.11:g.46043254C>T	NCI-TCGA
COSM3547175	p.Pro413Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46043255C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr414Asn	missense variant	-	NC_000020.11:g.46043257T>A	NCI-TCGA
rs1187692079	p.Asp418Ala	missense variant	-	NC_000020.11:g.46043270A>C	gnomAD
rs34058554	p.Thr420Ser	missense variant	-	NC_000020.11:g.46043275A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000514761	p.Thr420Ser	missense variant	-	NC_000020.11:g.46043275A>T	ClinVar
COSM4098963	p.Phe423Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46043284T>G	NCI-TCGA Cosmic
rs863225304	p.Leu426Pro	missense variant	Epileptic encephalopathy, early infantile, 34 (EIEE34)	NC_000020.11:g.46043294T>C	UniProt,dbSNP
VAR_075079	p.Leu426Pro	missense variant	Epileptic encephalopathy, early infantile, 34 (EIEE34)	NC_000020.11:g.46043294T>C	UniProt
rs863225304	p.Leu426Pro	missense variant	-	NC_000020.11:g.46043294T>C	-
RCV000202258	p.Leu426Pro	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46043294T>C	ClinVar
rs755510484	p.Ile429Val	missense variant	-	NC_000020.11:g.46043302A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile429Thr	missense variant	-	NC_000020.11:g.46043303T>C	NCI-TCGA
NCI-TCGA novel	p.Tyr430Cys	missense variant	-	NC_000020.11:g.46043306A>G	NCI-TCGA
COSM3799595	p.Ser433Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46043315C>T	NCI-TCGA Cosmic
rs368484023	p.Met438Leu	missense variant	-	NC_000020.11:g.46043638A>T	ESP,ExAC,TOPMed,gnomAD
RCV000761577	p.Met438Val	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46043638A>G	ClinVar
rs1332625463	p.Gly440Asp	missense variant	-	NC_000020.11:g.46043645G>A	gnomAD
rs757586510	p.Arg443His	missense variant	-	NC_000020.11:g.46043654G>A	ExAC,gnomAD
rs1287686059	p.Arg443Cys	missense variant	-	NC_000020.11:g.46043653C>T	gnomAD
rs779666593	p.Asp446His	missense variant	-	NC_000020.11:g.46043662G>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp446GlyPheSerTerUnkUnk	frameshift	-	NC_000020.11:g.46043658_46043659insG	NCI-TCGA
rs1467804129	p.Asp446Glu	missense variant	-	NC_000020.11:g.46043664C>G	gnomAD
NCI-TCGA novel	p.Leu447Pro	missense variant	-	NC_000020.11:g.46043666T>C	NCI-TCGA
rs1209600880	p.Arg448Lys	missense variant	-	NC_000020.11:g.46043669G>A	gnomAD
NCI-TCGA novel	p.Asp449Asn	missense variant	-	NC_000020.11:g.46043671G>A	NCI-TCGA
NCI-TCGA novel	p.Ser453Ter	stop gained	-	NC_000020.11:g.46043684C>A	NCI-TCGA
NCI-TCGA novel	p.Pro455Ser	missense variant	-	NC_000020.11:g.46043689C>T	NCI-TCGA
rs1435281366	p.Thr456Ser	missense variant	-	NC_000020.11:g.46043693C>G	gnomAD
rs374850295	p.Thr456Ala	missense variant	-	NC_000020.11:g.46043692A>G	ESP,ExAC,TOPMed,gnomAD
rs140326431	p.Ile459Val	missense variant	-	NC_000020.11:g.46043701A>G	ESP,ExAC,TOPMed,gnomAD
RCV000764243	p.Ile459Val	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46043701A>G	ClinVar
RCV000652719	p.Ile459Val	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46043701A>G	ClinVar
rs769231047	p.Ala463Thr	missense variant	-	NC_000020.11:g.46043713G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser466Cys	missense variant	-	NC_000020.11:g.46043723C>G	NCI-TCGA
rs1314395763	p.Tyr469Ter	stop gained	-	NC_000020.11:g.46043877C>A	gnomAD
rs745565201	p.Val473Ile	missense variant	-	NC_000020.11:g.46043887G>A	ExAC,gnomAD
rs1432551819	p.Val474Phe	missense variant	-	NC_000020.11:g.46043890G>T	TOPMed,gnomAD
rs1274295232	p.Val474Ala	missense variant	-	NC_000020.11:g.46043891T>C	gnomAD
NCI-TCGA novel	p.Gly477Glu	missense variant	-	NC_000020.11:g.46043900G>A	NCI-TCGA
rs992510978	p.Ala478Thr	missense variant	-	NC_000020.11:g.46043902G>A	TOPMed
rs1340483692	p.Ala478Val	missense variant	-	NC_000020.11:g.46043903C>T	gnomAD
NCI-TCGA novel	p.Cys479Tyr	missense variant	-	NC_000020.11:g.46043906G>A	NCI-TCGA
rs772414812	p.Ile480Val	missense variant	-	NC_000020.11:g.46043908A>G	ExAC,TOPMed,gnomAD
rs145624716	p.Glu481Asp	missense variant	-	NC_000020.11:g.46043913G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu481Gln	missense variant	-	NC_000020.11:g.46043911G>C	NCI-TCGA
NCI-TCGA novel	p.Glu481Ter	stop gained	-	NC_000020.11:g.46043911G>T	NCI-TCGA
rs201487205	p.Val484Ile	missense variant	-	NC_000020.11:g.46043920G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs769265263	p.Arg486Trp	missense variant	-	NC_000020.11:g.46043926C>T	ExAC,gnomAD
rs777320467	p.Arg486Gln	missense variant	-	NC_000020.11:g.46043927G>A	ExAC,TOPMed,gnomAD
rs1281577456	p.Asp487Gly	missense variant	-	NC_000020.11:g.46043930A>G	TOPMed
rs949875148	p.Phe489Leu	missense variant	-	NC_000020.11:g.46044967T>C	TOPMed
rs763936269	p.Gly490Asp	missense variant	-	NC_000020.11:g.46044971G>A	ExAC,gnomAD
rs564134718	p.Glu491Lys	missense variant	-	NC_000020.11:g.46044973G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1239117189	p.Ala492Gly	missense variant	-	NC_000020.11:g.46044977C>G	TOPMed
NCI-TCGA novel	p.Ala492Ser	missense variant	-	NC_000020.11:g.46044976G>T	NCI-TCGA
rs1271200264	p.Val493Met	missense variant	-	NC_000020.11:g.46044979G>A	gnomAD
NCI-TCGA novel	p.Val493Ala	missense variant	-	NC_000020.11:g.46044980T>C	NCI-TCGA
rs1304092442	p.Val498Met	missense variant	-	NC_000020.11:g.46044994G>A	gnomAD
NCI-TCGA novel	p.Val499Leu	missense variant	-	NC_000020.11:g.46044997G>T	NCI-TCGA
rs1355787897	p.Thr501Ile	missense variant	-	NC_000020.11:g.46045004C>T	TOPMed
rs746714162	p.Leu502Gln	missense variant	-	NC_000020.11:g.46045007T>A	ExAC,gnomAD
COSM1483690	p.Leu502Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46045006C>G	NCI-TCGA Cosmic
COSM6160109	p.Pro505Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46045016C>A	NCI-TCGA Cosmic
rs781690252	p.Pro507Ser	missense variant	-	NC_000020.11:g.46045021C>T	ExAC,gnomAD
rs974661660	p.Val509Ile	missense variant	-	NC_000020.11:g.46045027G>A	TOPMed
rs1487399141	p.Ile510Val	missense variant	-	NC_000020.11:g.46045030A>G	gnomAD
rs1048863834	p.Gly513Arg	missense variant	-	NC_000020.11:g.46045039G>A	-
NCI-TCGA novel	p.Thr518Ala	missense variant	-	NC_000020.11:g.46045054A>G	NCI-TCGA
NCI-TCGA novel	p.Gly520Ala	missense variant	-	NC_000020.11:g.46045061G>C	NCI-TCGA
COSM4898433	p.Gly520Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46045061G>A	NCI-TCGA Cosmic
COSM1736299	p.Gly522Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46045066G>A	NCI-TCGA Cosmic
rs770229415	p.Thr527Met	missense variant	-	NC_000020.11:g.46045082C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala529GlyPheSerTerUnkUnkUnk	frameshift	-	NC_000020.11:g.46045082_46045083insA	NCI-TCGA
NCI-TCGA novel	p.Pro530HisPheSerTerUnkUnk	frameshift	-	NC_000020.11:g.46045088C>-	NCI-TCGA
COSM2152767	p.Ala535Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46045105G>A	NCI-TCGA Cosmic
rs771520319	p.Ser537Leu	missense variant	-	NC_000020.11:g.46045112C>T	TOPMed
rs1434791362	p.Gly540Ser	missense variant	-	NC_000020.11:g.46045120G>A	gnomAD
rs113818080	p.Pro543Ser	missense variant	-	NC_000020.11:g.46045129C>T	ESP,ExAC,TOPMed,gnomAD
rs1227847406	p.Phe544Leu	missense variant	-	NC_000020.11:g.46045132T>C	gnomAD
rs1054451078	p.Gln546Ter	stop gained	-	NC_000020.11:g.46045138C>T	TOPMed
rs923053406	p.His550Gln	missense variant	-	NC_000020.11:g.46045889T>A	gnomAD
rs746040335	p.His550Arg	missense variant	-	NC_000020.11:g.46045888A>G	ExAC,gnomAD
RCV000202007	p.Gly551Asp	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46045891G>A	ClinVar
rs863225305	p.Gly551Asp	missense variant	Epileptic encephalopathy, early infantile, 34 (EIEE34)	NC_000020.11:g.46045891G>A	UniProt,dbSNP
VAR_075080	p.Gly551Asp	missense variant	Epileptic encephalopathy, early infantile, 34 (EIEE34)	NC_000020.11:g.46045891G>A	UniProt
rs863225305	p.Gly551Asp	missense variant	-	NC_000020.11:g.46045891G>A	-
rs775819796	p.Pro557Leu	missense variant	-	NC_000020.11:g.46045909C>T	ExAC,gnomAD
rs1399306484	p.Thr558Ser	missense variant	-	NC_000020.11:g.46045912C>G	gnomAD
rs1555865050	p.Leu561Pro	missense variant	-	NC_000020.11:g.46045921T>C	-
RCV000555126	p.Leu561Pro	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46045921T>C	ClinVar
NCI-TCGA novel	p.Leu561Met	missense variant	-	NC_000020.11:g.46045920C>A	NCI-TCGA
NCI-TCGA novel	p.Leu562Phe	missense variant	-	NC_000020.11:g.46045923C>T	NCI-TCGA
rs149824011	p.Leu563Pro	missense variant	-	NC_000020.11:g.46045927T>C	ESP,ExAC,TOPMed,gnomAD
rs1338793254	p.Cys566Ser	missense variant	-	NC_000020.11:g.46045936G>C	gnomAD
rs1454723831	p.Ile567Leu	missense variant	-	NC_000020.11:g.46045938A>C	gnomAD
rs1364136088	p.Glu569Gln	missense variant	-	NC_000020.11:g.46045944G>C	gnomAD
COSM3547179	p.Glu569Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46045944G>A	NCI-TCGA Cosmic
rs772962500	p.Ile570Thr	missense variant	-	NC_000020.11:g.46045948T>C	ExAC,gnomAD
COSM4098964	p.Gly571Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46045951G>A	NCI-TCGA Cosmic
rs762984846	p.Ile572Val	missense variant	-	NC_000020.11:g.46045953A>G	ExAC,gnomAD
RCV000439914	p.Ile572Val	missense variant	-	NC_000020.11:g.46045953A>G	ClinVar
rs765943403	p.Ile574Met	missense variant	-	NC_000020.11:g.46045961T>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser576Phe	missense variant	-	NC_000020.11:g.46045966C>T	NCI-TCGA
rs1275810930	p.Leu577Phe	missense variant	-	NC_000020.11:g.46045968C>T	gnomAD
COSM3405158	p.Asp578Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46045972A>G	NCI-TCGA Cosmic
COSM6160107	p.Asp578Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46045973C>G	NCI-TCGA Cosmic
rs755740712	p.Glu579Lys	missense variant	-	NC_000020.11:g.46045974G>A	ExAC,gnomAD
rs756423194	p.Ser585Pro	missense variant	-	NC_000020.11:g.46045992T>C	ExAC,gnomAD
rs1208355894	p.Met586Thr	missense variant	-	NC_000020.11:g.46045996T>C	TOPMed
NCI-TCGA novel	p.Phe587Val	missense variant	-	NC_000020.11:g.46046339T>G	NCI-TCGA
rs1326470163	p.Met590Ile	missense variant	-	NC_000020.11:g.46046350G>A	gnomAD
COSM1027413	p.Cys591Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.46046353C>A	NCI-TCGA Cosmic
COSM6093499	p.Ala598Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46046373C>T	NCI-TCGA Cosmic
rs947117488	p.Ala600Ser	missense variant	-	NC_000020.11:g.46046378G>T	TOPMed
NCI-TCGA novel	p.Val601Glu	missense variant	-	NC_000020.11:g.46046382T>A	NCI-TCGA
rs747155296	p.Thr603Met	missense variant	-	NC_000020.11:g.46046388C>T	ExAC,gnomAD
rs1332153467	p.Pro608Leu	missense variant	-	NC_000020.11:g.46046403C>T	TOPMed
rs1325966760	p.Asn609Lys	missense variant	-	NC_000020.11:g.46046407C>A	TOPMed
rs749064755	p.Asn609Ser	missense variant	-	NC_000020.11:g.46046406A>G	ExAC,gnomAD
rs547326805	p.Arg613His	missense variant	-	NC_000020.11:g.46046418G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Arg613Cys	missense variant	-	NC_000020.11:g.46046417C>T	NCI-TCGA
NCI-TCGA novel	p.Arg613Gly	missense variant	-	NC_000020.11:g.46046417C>G	NCI-TCGA
rs368661669	p.Arg615Pro	missense variant	-	NC_000020.11:g.46046424G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg615Leu	missense variant	-	NC_000020.11:g.46046424G>T	NCI-TCGA
rs368661669	p.Arg615Gln	missense variant	-	NC_000020.11:g.46046424G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3547180	p.Arg615Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.46046423C>T	NCI-TCGA Cosmic
rs776767470	p.Tyr616Phe	missense variant	-	NC_000020.11:g.46046427A>T	TOPMed,gnomAD
COSM3911479	p.Leu621Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46047458C>T	NCI-TCGA Cosmic
rs1207256253	p.Phe623Ser	missense variant	-	NC_000020.11:g.46047465T>C	gnomAD
rs376259780	p.Gly625Ser	missense variant	-	NC_000020.11:g.46047470G>A	ESP,ExAC,TOPMed,gnomAD
rs1352219291	p.Ser627Ile	missense variant	-	NC_000020.11:g.46047477G>T	TOPMed,gnomAD
rs1313957849	p.Tyr639His	missense variant	-	NC_000020.11:g.46047512T>C	gnomAD
rs752901926	p.Tyr639Phe	missense variant	-	NC_000020.11:g.46047513A>T	ExAC,gnomAD
rs1388235037	p.Tyr640Cys	missense variant	-	NC_000020.11:g.46047516A>G	gnomAD
rs1171068654	p.Leu646Phe	missense variant	-	NC_000020.11:g.46047533C>T	gnomAD
rs750211714	p.Leu650Ile	missense variant	-	NC_000020.11:g.46047545C>A	ExAC,gnomAD
rs145719580	p.Ile651Phe	missense variant	-	NC_000020.11:g.46047548A>T	ESP,TOPMed
COSM3799596	p.Ile651Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46047550C>G	NCI-TCGA Cosmic
COSM1412140	p.Lys653Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46047554A>G	NCI-TCGA Cosmic
rs984368300	p.Glu656Asp	missense variant	-	NC_000020.11:g.46047565G>C	TOPMed
COSM6160103	p.Glu656Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.46047563G>T	NCI-TCGA Cosmic
rs746932137	p.Arg658His	missense variant	-	NC_000020.11:g.46047570G>A	ExAC,TOPMed,gnomAD
rs780027679	p.Arg658Cys	missense variant	-	NC_000020.11:g.46047569C>T	ExAC,gnomAD
rs746932137	p.Arg658Leu	missense variant	-	NC_000020.11:g.46047570G>T	ExAC,TOPMed,gnomAD
rs1049733281	p.Gly659Arg	missense variant	-	NC_000020.11:g.46047572G>A	TOPMed
NCI-TCGA novel	p.Glu661Asp	missense variant	-	NC_000020.11:g.46047987G>T	NCI-TCGA
COSM1307468	p.Glu661Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46047985G>A	NCI-TCGA Cosmic
rs1489822655	p.Asp666Asn	missense variant	-	NC_000020.11:g.46048000G>A	gnomAD
COSM3547182	p.Gly667Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46048004G>A	NCI-TCGA Cosmic
rs1236646231	p.Arg669Gln	missense variant	-	NC_000020.11:g.46048010G>A	gnomAD
rs1268922818	p.Gly670Ser	missense variant	-	NC_000020.11:g.46048012G>A	gnomAD
rs1156422515	p.Leu671Val	missense variant	-	NC_000020.11:g.46048015C>G	gnomAD
rs554559920	p.Ser672Pro	missense variant	-	NC_000020.11:g.46048018T>C	1000Genomes
NCI-TCGA novel	p.Leu673Phe	missense variant	-	NC_000020.11:g.46048021C>T	NCI-TCGA
rs1555865828	p.Ala675Val	missense variant	-	NC_000020.11:g.46048028C>T	-
RCV000652722	p.Ala675Val	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46048028C>T	ClinVar
NCI-TCGA novel	p.Ala675Thr	missense variant	-	NC_000020.11:g.46048027G>A	NCI-TCGA
rs760824180	p.Arg677Leu	missense variant	-	NC_000020.11:g.46048034G>T	ExAC,TOPMed,gnomAD
rs200020521	p.Arg677Cys	missense variant	-	NC_000020.11:g.46048033C>T	1000Genomes,ExAC,gnomAD
rs760824180	p.Arg677His	missense variant	-	NC_000020.11:g.46048034G>A	ExAC,TOPMed,gnomAD
COSM3799597	p.Arg677Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46048033C>G	NCI-TCGA Cosmic
rs1416786034	p.Ala679Ser	missense variant	-	NC_000020.11:g.46048039G>T	gnomAD
NCI-TCGA novel	p.Leu680SerPheSerTerUnkUnk	frameshift	-	NC_000020.11:g.46048040C>-	NCI-TCGA
COSM3547183	p.Leu680Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46048042C>T	NCI-TCGA Cosmic
rs1305523437	p.Leu681Phe	missense variant	-	NC_000020.11:g.46048047A>C	gnomAD
rs1346179009	p.Arg682His	missense variant	-	NC_000020.11:g.46048049G>A	gnomAD
rs1173713421	p.Arg682Cys	missense variant	-	NC_000020.11:g.46048048C>T	gnomAD
rs201966427	p.Leu683Gln	missense variant	-	NC_000020.11:g.46048052T>A	1000Genomes
rs761971126	p.Gly686Glu	missense variant	-	NC_000020.11:g.46048061G>A	ExAC,gnomAD
rs1288795186	p.Pro687Thr	missense variant	-	NC_000020.11:g.46048063C>A	gnomAD
NCI-TCGA novel	p.Pro687Ser	missense variant	-	NC_000020.11:g.46048063C>T	NCI-TCGA
rs1357044095	p.Pro688Thr	missense variant	-	NC_000020.11:g.46048066C>A	gnomAD
rs767435084	p.Thr690Ile	missense variant	-	NC_000020.11:g.46048073C>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys691Asn	missense variant	-	NC_000020.11:g.46048077G>T	NCI-TCGA
rs1337088161	p.Pro695Leu	missense variant	-	NC_000020.11:g.46049624C>T	gnomAD
rs766589514	p.Gln696Glu	missense variant	-	NC_000020.11:g.46049626C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Gln696His	missense variant	-	NC_000020.11:g.46049628G>T	NCI-TCGA
NCI-TCGA novel	p.Gln696Leu	missense variant	-	NC_000020.11:g.46049627A>T	NCI-TCGA
rs756040501	p.Leu700Met	missense variant	-	NC_000020.11:g.46049638C>A	ExAC,TOPMed,gnomAD
rs1203908091	p.Arg702Cys	missense variant	-	NC_000020.11:g.46049644C>T	gnomAD
rs1203908091	p.Arg702Gly	missense variant	-	NC_000020.11:g.46049644C>G	gnomAD
rs763612651	p.Arg702His	missense variant	-	NC_000020.11:g.46049645G>A	ExAC,TOPMed,gnomAD
rs753266125	p.Asp704Asn	missense variant	-	NC_000020.11:g.46049650G>A	ExAC,gnomAD
rs1244371557	p.Gln705Lys	missense variant	-	NC_000020.11:g.46049653C>A	TOPMed,gnomAD
rs1244371557	p.Gln705Glu	missense variant	-	NC_000020.11:g.46049653C>G	TOPMed,gnomAD
rs1475779092	p.Asp706Val	missense variant	-	NC_000020.11:g.46049657A>T	gnomAD
NCI-TCGA novel	p.Asp706Asn	missense variant	-	NC_000020.11:g.46049656G>A	NCI-TCGA
rs1175869873	p.Val710Met	missense variant	-	NC_000020.11:g.46049668G>A	TOPMed,gnomAD
RCV000543346	p.Val710Leu	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46049668G>T	ClinVar
rs1175869873	p.Val710Leu	missense variant	-	NC_000020.11:g.46049668G>T	TOPMed,gnomAD
rs1427307420	p.His711Tyr	missense variant	-	NC_000020.11:g.46049671C>T	gnomAD
rs756834398	p.Pro712Ser	missense variant	-	NC_000020.11:g.46049674C>T	ExAC,gnomAD
rs745527673	p.Leu715Ile	missense variant	-	NC_000020.11:g.46049683C>A	ExAC,gnomAD
rs745527673	p.Leu715Phe	missense variant	-	NC_000020.11:g.46049683C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu717Pro	missense variant	-	NC_000020.11:g.46049690T>C	NCI-TCGA
NCI-TCGA novel	p.Gln720Arg	missense variant	-	NC_000020.11:g.46049699A>G	NCI-TCGA
rs1325111537	p.Leu721Met	missense variant	-	NC_000020.11:g.46049701C>A	gnomAD
rs1350367958	p.Gly724Glu	missense variant	-	NC_000020.11:g.46049711G>A	gnomAD
rs192513365	p.Gly724Arg	missense variant	-	NC_000020.11:g.46049710G>A	1000Genomes
rs1555866427	p.Lys725Arg	missense variant	-	NC_000020.11:g.46049714A>G	-
RCV000658914	p.Lys725Arg	missense variant	-	NC_000020.11:g.46049714A>G	ClinVar
rs867133542	p.Gly726Ser	missense variant	-	NC_000020.11:g.46049716G>A	-
rs1199339536	p.Val730Met	missense variant	-	NC_000020.11:g.46049728G>A	gnomAD
rs1481472580	p.Leu734Phe	missense variant	-	NC_000020.11:g.46049740C>T	gnomAD
COSM443928	p.Glu735Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46049744A>T	NCI-TCGA Cosmic
rs1363482191	p.Gly736Asp	missense variant	-	NC_000020.11:g.46049747G>A	gnomAD
rs890647462	p.Phe738Leu	missense variant	-	NC_000020.11:g.46049752T>C	TOPMed
COSM3547186	p.Glu740Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46049758G>A	NCI-TCGA Cosmic
COSM3547187	p.His742Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46049764C>T	NCI-TCGA Cosmic
rs1385406670	p.Pro743Leu	missense variant	-	NC_000020.11:g.46049768C>T	TOPMed,gnomAD
rs1301239632	p.Ala745Val	missense variant	-	NC_000020.11:g.46049774C>T	gnomAD
RCV000702491	p.Ala745Val	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46049774C>T	ClinVar
NCI-TCGA novel	p.Gln746Ter	stop gained	-	NC_000020.11:g.46049776C>T	NCI-TCGA
rs532191036	p.Arg747Trp	missense variant	-	NC_000020.11:g.46049779C>T	ExAC,TOPMed,gnomAD
rs763907201	p.Arg747Gln	missense variant	-	NC_000020.11:g.46049780G>A	ExAC,TOPMed,gnomAD
rs1333678805	p.Glu749Gly	missense variant	-	NC_000020.11:g.46049786A>G	gnomAD
rs1240764984	p.Glu750Lys	missense variant	-	NC_000020.11:g.46049788G>A	TOPMed,gnomAD
rs1344762308	p.Glu750Ala	missense variant	-	NC_000020.11:g.46049789A>C	TOPMed
rs1479711008	p.Ile752Val	missense variant	-	NC_000020.11:g.46051678A>G	TOPMed,gnomAD
rs374372733	p.Arg754His	missense variant	-	NC_000020.11:g.46051685G>A	ESP,TOPMed,gnomAD
rs1197752454	p.Arg754Cys	missense variant	-	NC_000020.11:g.46051684C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Glu759Asp	missense variant	-	NC_000020.11:g.46051701G>T	NCI-TCGA
rs774596447	p.Lys760Arg	missense variant	-	NC_000020.11:g.46051703A>G	ExAC,TOPMed,gnomAD
rs760385352	p.Val761Met	missense variant	-	NC_000020.11:g.46051705G>A	ExAC,gnomAD
rs202232858	p.Gly763Cys	missense variant	-	NC_000020.11:g.46051711G>T	1000Genomes
rs768554953	p.Ile769Asn	missense variant	-	NC_000020.11:g.46051730T>A	ExAC,gnomAD
COSM1483691	p.Ser771Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46051736C>T	NCI-TCGA Cosmic
rs1463117299	p.Leu773Ser	missense variant	-	NC_000020.11:g.46051742T>C	gnomAD
rs1370797692	p.Leu773Met	missense variant	-	NC_000020.11:g.46051741T>A	gnomAD
rs377709894	p.Arg774His	missense variant	-	NC_000020.11:g.46051745G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776365184	p.Arg774Cys	missense variant	-	NC_000020.11:g.46051744C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg774Leu	missense variant	-	NC_000020.11:g.46051745G>T	NCI-TCGA
NCI-TCGA novel	p.Gly776Asp	missense variant	-	NC_000020.11:g.46051751G>A	NCI-TCGA
rs551572064	p.Val777Met	missense variant	-	NC_000020.11:g.46051753G>A	1000Genomes,ExAC,gnomAD
rs1396257443	p.Ser778Thr	missense variant	-	NC_000020.11:g.46051756T>A	TOPMed
rs1295554853	p.Gly785Val	missense variant	-	NC_000020.11:g.46051778G>T	gnomAD
rs1229791643	p.Gly787Arg	missense variant	-	NC_000020.11:g.46051783G>A	gnomAD
rs753106879	p.Leu789Met	missense variant	-	NC_000020.11:g.46051789C>A	ExAC,TOPMed,gnomAD
COSM1412143	p.Leu789CysPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.46051783G>-	NCI-TCGA Cosmic
rs995997850	p.Gln790Arg	missense variant	-	NC_000020.11:g.46051793A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Gln790His	missense variant	-	NC_000020.11:g.46051794G>C	NCI-TCGA
NCI-TCGA novel	p.Asn792Ile	missense variant	-	NC_000020.11:g.46051799A>T	NCI-TCGA
rs756640421	p.Thr793Ala	missense variant	-	NC_000020.11:g.46051801A>G	ExAC,gnomAD
COSM1483692	p.Thr793Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46051802C>G	NCI-TCGA Cosmic
rs749336515	p.Arg800His	missense variant	-	NC_000020.11:g.46051823G>A	ExAC,TOPMed,gnomAD
rs542397610	p.Arg800Cys	missense variant	-	NC_000020.11:g.46051822C>T	ExAC,gnomAD
RCV000546989	p.Arg800His	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46051823G>A	ClinVar
rs757395459	p.Arg803Cys	missense variant	-	NC_000020.11:g.46051831C>T	ExAC,TOPMed,gnomAD
rs779096129	p.Arg803His	missense variant	-	NC_000020.11:g.46051832G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln804His	inframe deletion	-	NC_000020.11:g.46051835_46051843AGAAGGAAG>-	NCI-TCGA
rs1225311916	p.Arg812Lys	missense variant	-	NC_000020.11:g.46051859G>A	gnomAD
NCI-TCGA novel	p.Asn813Thr	missense variant	-	NC_000020.11:g.46051862A>C	NCI-TCGA
rs776507788	p.Phe814Leu	missense variant	-	NC_000020.11:g.46051864T>C	ExAC,TOPMed,gnomAD
rs769820337	p.Ile815Asn	missense variant	-	NC_000020.11:g.46051868T>A	ExAC,TOPMed,gnomAD
rs769820337	p.Ile815Thr	missense variant	-	NC_000020.11:g.46051868T>C	ExAC,TOPMed,gnomAD
rs747941938	p.Ile815Leu	missense variant	-	NC_000020.11:g.46051867A>C	ExAC,TOPMed,gnomAD
rs1365579102	p.Arg819Gln	missense variant	-	NC_000020.11:g.46052966G>A	gnomAD
rs773936706	p.Arg819Trp	missense variant	-	NC_000020.11:g.46052965C>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr822Ala	missense variant	-	NC_000020.11:g.46052974A>G	NCI-TCGA
rs1555867242	p.Gly824Asp	missense variant	-	NC_000020.11:g.46052981G>A	-
RCV000652723	p.Gly824Asp	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46052981G>A	ClinVar
rs1304975707	p.Leu826Phe	missense variant	-	NC_000020.11:g.46052988A>C	gnomAD
rs1350546948	p.Ala827Ser	missense variant	-	NC_000020.11:g.46052989G>T	gnomAD
rs1349602272	p.Ala827Val	missense variant	-	NC_000020.11:g.46052990C>T	gnomAD
rs1356162210	p.Leu829Met	missense variant	-	NC_000020.11:g.46052995C>A	TOPMed
rs1375212005	p.Thr831Ile	missense variant	-	NC_000020.11:g.46053002C>T	gnomAD
NCI-TCGA novel	p.Lys832Asn	missense variant	-	NC_000020.11:g.46053006G>T	NCI-TCGA
rs540937956	p.Asn833Lys	missense variant	-	NC_000020.11:g.46053009C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs761015354	p.Asn833Asp	missense variant	-	NC_000020.11:g.46053007A>G	ExAC,gnomAD
rs201152687	p.Val834Ile	missense variant	-	NC_000020.11:g.46053010G>A	ESP,ExAC,TOPMed,gnomAD
rs368264831	p.Ser835Ala	missense variant	-	NC_000020.11:g.46053013T>G	ESP,ExAC,TOPMed,gnomAD
rs200191107	p.Met836Ile	missense variant	-	NC_000020.11:g.46053018G>A	ESP,ExAC,TOPMed,gnomAD
rs765710293	p.Met836Thr	missense variant	-	NC_000020.11:g.46053017T>C	ExAC,TOPMed,gnomAD
RCV000652724	p.Met836Ile	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46053018G>A	ClinVar
RCV000764244	p.Met836Ile	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46053018G>A	ClinVar
rs1163758563	p.Asn840Tyr	missense variant	-	NC_000020.11:g.46053028A>T	TOPMed
NCI-TCGA novel	p.Asn840Lys	missense variant	-	NC_000020.11:g.46053030C>A	NCI-TCGA
rs201268862	p.Pro841Thr	missense variant	-	NC_000020.11:g.46053031C>A	ESP,ExAC,TOPMed,gnomAD
RCV000764245	p.Pro841Ala	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46053031C>G	ClinVar
rs201268862	p.Pro841Ala	missense variant	-	NC_000020.11:g.46053031C>G	ESP,ExAC,TOPMed,gnomAD
RCV000551189	p.Pro841Ala	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46053031C>G	ClinVar
rs142474258	p.Glu842Val	missense variant	-	NC_000020.11:g.46053035A>T	ESP
rs751841577	p.Glu842Lys	missense variant	-	NC_000020.11:g.46053034G>A	ExAC,TOPMed,gnomAD
COSM3841168	p.Glu842Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46053034G>C	NCI-TCGA Cosmic
rs1179723675	p.Arg843His	missense variant	-	NC_000020.11:g.46053038G>A	TOPMed,gnomAD
rs755903894	p.Arg843Gly	missense variant	-	NC_000020.11:g.46053037C>G	ExAC,gnomAD
rs755903894	p.Arg843Cys	missense variant	-	NC_000020.11:g.46053037C>T	ExAC,gnomAD
rs1385024131	p.Phe844Cys	missense variant	-	NC_000020.11:g.46053041T>G	gnomAD
rs1443254780	p.Glu846Lys	missense variant	-	NC_000020.11:g.46053046G>A	gnomAD
VAR_036557	p.Gly847Asp	Missense	-	-	UniProt
rs777745429	p.Ser848Asn	missense variant	-	NC_000020.11:g.46053053G>A	ExAC,TOPMed,gnomAD
rs749191975	p.Ile849Val	missense variant	-	NC_000020.11:g.46053055A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp850Asn	missense variant	-	NC_000020.11:g.46053058G>A	NCI-TCGA
rs745380226	p.Val851Ile	missense variant	-	NC_000020.11:g.46053061G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp857Asn	missense variant	-	NC_000020.11:g.46053079G>A	NCI-TCGA
rs1251560492	p.Met860Ile	missense variant	-	NC_000020.11:g.46053090G>A	gnomAD
rs1284761457	p.Leu861Val	missense variant	-	NC_000020.11:g.46053091C>G	gnomAD
rs776957511	p.Met862Val	missense variant	-	NC_000020.11:g.46053094A>G	ExAC,gnomAD
rs750945346	p.Arg869Gln	missense variant	-	NC_000020.11:g.46053116G>A	ExAC,gnomAD
rs1190180234	p.His870Gln	missense variant	-	NC_000020.11:g.46053120C>A	gnomAD
NCI-TCGA novel	p.His871Gln	missense variant	-	NC_000020.11:g.46053123C>G	NCI-TCGA
NCI-TCGA novel	p.His871Arg	missense variant	-	NC_000020.11:g.46053122A>G	NCI-TCGA
RCV000784929	p.Lys872Glu	missense variant	Epilepsy, idiopathic generalized, susceptibility to, 14 (EIG14)	NC_000020.11:g.46053124A>G	ClinVar
rs1280953289	p.Trp874Ter	stop gained	-	NC_000020.11:g.46053582G>A	gnomAD
rs1332402437	p.Arg875Trp	missense variant	-	NC_000020.11:g.46053584C>T	TOPMed,gnomAD
rs757020460	p.Arg875Gln	missense variant	-	NC_000020.11:g.46053585G>A	ExAC,gnomAD
rs1275771310	p.Cys877Ser	missense variant	-	NC_000020.11:g.46053591G>C	gnomAD
NCI-TCGA novel	p.Met879Lys	missense variant	-	NC_000020.11:g.46053597T>A	NCI-TCGA
NCI-TCGA novel	p.Met879Ile	missense variant	-	NC_000020.11:g.46053598G>A	NCI-TCGA
rs764947617	p.Arg880Cys	missense variant	-	NC_000020.11:g.46053599C>T	ExAC,gnomAD
RCV000761579	p.Arg880Leu	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46053600G>T	ClinVar
rs750336750	p.Arg880His	missense variant	-	NC_000020.11:g.46053600G>A	ExAC,TOPMed,gnomAD
rs1288834040	p.Met887Thr	missense variant	-	NC_000020.11:g.46053621T>C	TOPMed,gnomAD
rs1288834040	p.Met887Arg	missense variant	-	NC_000020.11:g.46053621T>G	TOPMed,gnomAD
COSM1412145	p.Met887Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46053622G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp888Asn	missense variant	-	NC_000020.11:g.46053623G>A	NCI-TCGA
rs1354258077	p.Asp889Asn	missense variant	-	NC_000020.11:g.46053626G>A	TOPMed
rs758245188	p.Asn890Asp	missense variant	-	NC_000020.11:g.46053629A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser891Ile	missense variant	-	NC_000020.11:g.46053633G>T	NCI-TCGA
NCI-TCGA novel	p.Gln893Lys	missense variant	-	NC_000020.11:g.46053638C>A	NCI-TCGA
rs1397645902	p.Met894Leu	missense variant	-	NC_000020.11:g.46053641A>T	TOPMed
NCI-TCGA novel	p.Lys896Asn	missense variant	-	NC_000020.11:g.46053649G>T	NCI-TCGA
rs1359639444	p.Asp897Val	missense variant	-	NC_000020.11:g.46053651A>T	TOPMed
rs888977797	p.Asp897His	missense variant	-	NC_000020.11:g.46053650G>C	gnomAD
rs1288017411	p.Leu898Val	missense variant	-	NC_000020.11:g.46053653C>G	TOPMed
COSM3799599	p.Leu902Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46053665C>G	NCI-TCGA Cosmic
rs1270290272	p.Tyr903Cys	missense variant	-	NC_000020.11:g.46053669A>G	TOPMed,gnomAD
rs1161641127	p.Arg906Cys	missense variant	-	NC_000020.11:g.46053677C>T	TOPMed
NCI-TCGA novel	p.Arg906His	missense variant	-	NC_000020.11:g.46053678G>A	NCI-TCGA
rs754540247	p.Ile907Leu	missense variant	-	NC_000020.11:g.46053680A>C	ExAC,TOPMed,gnomAD
rs754540247	p.Ile907Val	missense variant	-	NC_000020.11:g.46053680A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala909Val	missense variant	-	NC_000020.11:g.46053687C>T	NCI-TCGA
COSM1027418	p.Glu910Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46053691G>T	NCI-TCGA Cosmic
rs565709821	p.Glu912Lys	missense variant	-	NC_000020.11:g.46053695G>A	1000Genomes,ExAC,gnomAD
rs770152314	p.Glu912Val	missense variant	-	NC_000020.11:g.46053696A>T	ExAC,gnomAD
NCI-TCGA novel	p.Val913Glu	missense variant	-	NC_000020.11:g.46053699T>A	NCI-TCGA
rs1300668156	p.Val914Glu	missense variant	-	NC_000020.11:g.46053702T>A	gnomAD
rs773469879	p.Met916Leu	missense variant	-	NC_000020.11:g.46053707A>T	ExAC,gnomAD
rs200461513	p.Met916Thr	missense variant	-	NC_000020.11:g.46053708T>C	ExAC,TOPMed,gnomAD
rs1200788623	p.His917Tyr	missense variant	-	NC_000020.11:g.46054916C>T	TOPMed,gnomAD
NCI-TCGA novel	p.His917Arg	missense variant	-	NC_000020.11:g.46054917A>G	NCI-TCGA
rs755702599	p.Glu918Lys	missense variant	-	NC_000020.11:g.46054919G>A	ExAC,gnomAD
COSM6093493	p.Ser919Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46054923G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp920Asn	missense variant	-	NC_000020.11:g.46054925G>A	NCI-TCGA
rs1181643809	p.Ser922Leu	missense variant	-	NC_000020.11:g.46054932C>T	gnomAD
NCI-TCGA novel	p.Thr925Asn	missense variant	-	NC_000020.11:g.46054941C>A	NCI-TCGA
NCI-TCGA novel	p.Thr925Ile	missense variant	-	NC_000020.11:g.46054941C>T	NCI-TCGA
rs1368465015	p.Tyr926His	missense variant	-	NC_000020.11:g.46054943T>C	TOPMed
rs774769322	p.Thr929Met	missense variant	-	NC_000020.11:g.46054953C>T	ExAC,gnomAD
rs775456354	p.Val931Met	missense variant	-	NC_000020.11:g.46054958G>A	ExAC,gnomAD
NCI-TCGA novel	p.Met932Ile	missense variant	-	NC_000020.11:g.46054963G>A	NCI-TCGA
rs760847273	p.Glu933Gly	missense variant	-	NC_000020.11:g.46054965A>G	ExAC,gnomAD
rs1194110733	p.Arg935Cys	missense variant	-	NC_000020.11:g.46054970C>T	gnomAD
rs764216462	p.Arg935His	missense variant	-	NC_000020.11:g.46054971G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg935Leu	missense variant	-	NC_000020.11:g.46054971G>T	NCI-TCGA
rs536513910	p.Ser936Phe	missense variant	-	NC_000020.11:g.46054974C>T	gnomAD
NCI-TCGA novel	p.Lys940ArgPheSerTerUnk	frameshift	-	NC_000020.11:g.46054984_46054987CAAA>-	NCI-TCGA
NCI-TCGA novel	p.Gln941His	missense variant	-	NC_000020.11:g.46054990G>C	NCI-TCGA
rs776969305	p.Met942Val	missense variant	-	NC_000020.11:g.46054991A>G	ExAC,gnomAD
rs370818838	p.Arg949Trp	missense variant	-	NC_000020.11:g.46055012C>T	ESP,ExAC,TOPMed,gnomAD
rs766162823	p.Arg949Leu	missense variant	-	NC_000020.11:g.46055013G>T	ExAC,TOPMed,gnomAD
rs766162823	p.Arg949Gln	missense variant	-	NC_000020.11:g.46055013G>A	ExAC,TOPMed,gnomAD
rs751455156	p.Arg951Trp	missense variant	-	NC_000020.11:g.46055018C>T	ExAC,gnomAD
rs759488728	p.Arg951Gln	missense variant	-	NC_000020.11:g.46055019G>A	ExAC,TOPMed
NCI-TCGA novel	p.Arg951Gly	missense variant	-	NC_000020.11:g.46055018C>G	NCI-TCGA
NCI-TCGA novel	p.Gln954His	missense variant	-	NC_000020.11:g.46056155G>C	NCI-TCGA
rs759368216	p.Thr957Ile	missense variant	-	NC_000020.11:g.46056163C>T	ExAC,gnomAD
COSM478228	p.Asp958Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46056166A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu959Ala	missense variant	-	NC_000020.11:g.46056169A>C	NCI-TCGA
rs752739286	p.Arg961Gln	missense variant	-	NC_000020.11:g.46056175G>A	ExAC,gnomAD
COSM1307469	p.Arg961Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46056174C>G	NCI-TCGA Cosmic
rs760046175	p.Arg965Gln	missense variant	-	NC_000020.11:g.46056187G>A	ExAC,TOPMed,gnomAD
rs760046175	p.Arg965Pro	missense variant	-	NC_000020.11:g.46056187G>C	ExAC,TOPMed,gnomAD
rs1267557723	p.Arg965Trp	missense variant	-	NC_000020.11:g.46056186C>T	gnomAD
rs753504476	p.Lys967Thr	missense variant	-	NC_000020.11:g.46056193A>C	ExAC,gnomAD
rs1434156491	p.Lys967Asn	missense variant	-	NC_000020.11:g.46056194G>T	gnomAD
rs199934904	p.Ala970Gly	missense variant	-	NC_000020.11:g.46056202C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000514358	p.Ala970Gly	missense variant	-	NC_000020.11:g.46056202C>G	ClinVar
RCV000698700	p.Ala970Gly	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46056202C>G	ClinVar
COSM6093491	p.Ala970Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46056202C>T	NCI-TCGA Cosmic
rs750810382	p.Asn971Ile	missense variant	-	NC_000020.11:g.46056205A>T	ExAC,gnomAD
COSM3547190	p.Asn971Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46056205A>G	NCI-TCGA Cosmic
rs758888959	p.Thr972Met	missense variant	-	NC_000020.11:g.46056208C>T	ExAC,TOPMed,gnomAD
rs1254654686	p.Arg973Trp	missense variant	-	NC_000020.11:g.46056210C>T	TOPMed,gnomAD
rs780363610	p.Arg973Gln	missense variant	-	NC_000020.11:g.46056211G>A	ExAC,TOPMed,gnomAD
rs747552467	p.Arg975Ser	missense variant	-	NC_000020.11:g.46056216C>A	ExAC,TOPMed,gnomAD
rs142740233	p.Arg975His	missense variant	Epilepsy, idiopathic generalized 14 (EIG14)	NC_000020.11:g.46056217G>A	UniProt,dbSNP
VAR_075081	p.Arg975His	missense variant	Epilepsy, idiopathic generalized 14 (EIG14)	NC_000020.11:g.46056217G>A	UniProt
rs142740233	p.Arg975His	missense variant	-	NC_000020.11:g.46056217G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142740233	p.Arg975Leu	missense variant	-	NC_000020.11:g.46056217G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs747552467	p.Arg975Cys	missense variant	-	NC_000020.11:g.46056216C>T	ExAC,TOPMed,gnomAD
RCV000549689	p.Arg975His	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46056217G>A	ClinVar
rs754601939	p.Asn977Lys	missense variant	-	NC_000020.11:g.46056224C>A	TOPMed,gnomAD
rs781354583	p.Asn977Asp	missense variant	-	NC_000020.11:g.46056222A>G	ExAC,TOPMed,gnomAD
rs748274754	p.Val978Ile	missense variant	-	NC_000020.11:g.46056225G>A	ExAC,TOPMed,gnomAD
COSM1483693	p.Glu980Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46056231G>A	NCI-TCGA Cosmic
rs1319450206	p.Glu981Lys	missense variant	-	NC_000020.11:g.46056234G>A	gnomAD
rs1223270370	p.Glu981Asp	missense variant	-	NC_000020.11:g.46056236G>C	gnomAD
rs759314815	p.Thr982Met	missense variant	-	NC_000020.11:g.46056238C>T	ExAC,TOPMed,gnomAD
rs775224780	p.Ala983Gly	missense variant	-	NC_000020.11:g.46056241C>G	ExAC,gnomAD
COSM3911480	p.Ala983Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46056240G>A	NCI-TCGA Cosmic
rs763466359	p.Gly984Ser	missense variant	-	NC_000020.11:g.46056243G>A	ExAC,gnomAD
rs1284519025	p.Asp985Gly	missense variant	-	NC_000020.11:g.46056247A>G	TOPMed
rs1407241957	p.Ser986Gly	missense variant	-	NC_000020.11:g.46056249A>G	TOPMed
rs1159811344	p.Glu987Lys	missense variant	-	NC_000020.11:g.46056252G>A	gnomAD
rs776262547	p.Glu988Lys	missense variant	-	NC_000020.11:g.46056255G>A	ExAC,TOPMed,gnomAD
rs776262547	p.Glu988Gln	missense variant	-	NC_000020.11:g.46056255G>C	ExAC,TOPMed,gnomAD
rs761451070	p.Lys989Asn	missense variant	-	NC_000020.11:g.46056260G>C	ExAC,gnomAD
rs144258216	p.Glu991Lys	missense variant	-	NC_000020.11:g.46056264G>A	ESP,ExAC,gnomAD
rs750111103	p.Glu992Val	missense variant	-	NC_000020.11:g.46056268A>T	ExAC,gnomAD
rs750111103	p.Glu992Gly	missense variant	-	NC_000020.11:g.46056268A>G	ExAC,gnomAD
COSM724391	p.Val994Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46056366T>A	NCI-TCGA Cosmic
rs778476586	p.His998Gln	missense variant	-	NC_000020.11:g.46056379C>A	ExAC,TOPMed,gnomAD
rs765995687	p.Asp999His	missense variant	-	NC_000020.11:g.46056380G>C	ExAC,gnomAD
rs765995687	p.Asp999Asn	missense variant	-	NC_000020.11:g.46056380G>A	ExAC,gnomAD
rs1284233610	p.Gln1000Pro	missense variant	-	NC_000020.11:g.46056384A>C	gnomAD
rs1216388861	p.Ser1001Asn	missense variant	-	NC_000020.11:g.46056387G>A	gnomAD
RCV000688334	p.Ser1001Asn	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46056387G>A	ClinVar
rs751920054	p.Ala1002Thr	missense variant	-	NC_000020.11:g.46056389G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro1003His	missense variant	-	NC_000020.11:g.46056393C>A	NCI-TCGA
rs1320444927	p.Ser1007Asn	missense variant	-	NC_000020.11:g.46056405G>A	gnomAD
rs755363281	p.Pro1010Leu	missense variant	-	NC_000020.11:g.46056414C>T	ExAC,TOPMed,gnomAD
rs1212881804	p.Gly1013Glu	missense variant	-	NC_000020.11:g.46056423G>A	TOPMed,gnomAD
rs949397002	p.Glu1015Gly	missense variant	-	NC_000020.11:g.46056429A>G	TOPMed
rs1455183939	p.Glu1015Lys	missense variant	-	NC_000020.11:g.46056428G>A	TOPMed
NCI-TCGA novel	p.Pro1016Thr	missense variant	-	NC_000020.11:g.46056431C>A	NCI-TCGA
rs1046428000	p.Glu1017Gln	missense variant	-	NC_000020.11:g.46056434G>C	TOPMed
rs376925159	p.Gly1018Ala	missense variant	-	NC_000020.11:g.46056438G>C	ESP,ExAC,TOPMed,gnomAD
rs1477557927	p.Gly1018Trp	missense variant	-	NC_000020.11:g.46056437G>T	gnomAD
rs756121150	p.Glu1019Lys	missense variant	-	NC_000020.11:g.46056440G>A	ExAC,gnomAD
COSM1412147	p.Glu1019LysPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.46056436G>-	NCI-TCGA Cosmic
rs749370059	p.Glu1021Gln	missense variant	-	NC_000020.11:g.46056446G>C	ExAC,TOPMed,gnomAD
rs749370059	p.Glu1021Lys	missense variant	-	NC_000020.11:g.46056446G>A	ExAC,TOPMed,gnomAD
rs1366449247	p.Thr1022Arg	missense variant	-	NC_000020.11:g.46056450C>G	TOPMed
rs749426883	p.Pro1024Leu	missense variant	-	NC_000020.11:g.46056456C>T	ExAC,TOPMed,gnomAD
COSM1027420	p.Glu1025Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46056460G>T	NCI-TCGA Cosmic
rs1243967726	p.Lys1026Met	missense variant	-	NC_000020.11:g.46056462A>T	TOPMed
NCI-TCGA novel	p.Lys1026Asn	missense variant	-	NC_000020.11:g.46056463G>T	NCI-TCGA
rs1359319227	p.His1028Arg	missense variant	-	NC_000020.11:g.46056468A>G	gnomAD
rs776641614	p.Asp1034Asn	missense variant	-	NC_000020.11:g.46056485G>A	ExAC,TOPMed,gnomAD
rs1340688751	p.Ser1036Leu	missense variant	-	NC_000020.11:g.46056492C>T	gnomAD
rs1274575759	p.Val1037Ala	missense variant	-	NC_000020.11:g.46056495T>C	gnomAD
rs769375633	p.Ala1038Glu	missense variant	-	NC_000020.11:g.46056498C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala1038Thr	missense variant	-	NC_000020.11:g.46056497G>A	NCI-TCGA
rs1487995250	p.Asn1041Asp	missense variant	-	NC_000020.11:g.46056506A>G	gnomAD
COSM1027421	p.Gly1043Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46056513G>A	NCI-TCGA Cosmic
rs1206199358	p.Pro1044Leu	missense variant	-	NC_000020.11:g.46056516C>T	TOPMed
rs1008003126	p.Ser1045Asn	missense variant	-	NC_000020.11:g.46056519G>A	TOPMed
rs773934299	p.Ser1045Arg	missense variant	-	NC_000020.11:g.46056520T>A	ExAC,gnomAD
rs770611943	p.Ser1045Arg	missense variant	-	NC_000020.11:g.46056518A>C	ExAC,gnomAD
rs146580614	p.Pro1046Ala	missense variant	-	NC_000020.11:g.46056521C>G	ESP,ExAC,TOPMed,gnomAD
rs753162897	p.Val1047Ile	missense variant	-	NC_000020.11:g.46056524G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser1048Phe	missense variant	-	NC_000020.11:g.46056528C>T	NCI-TCGA
rs367960887	p.Gly1051Val	missense variant	-	NC_000020.11:g.46056537G>T	ESP,ExAC,TOPMed,gnomAD
rs367960887	p.Gly1051Asp	missense variant	-	NC_000020.11:g.46056537G>A	ESP,ExAC,TOPMed,gnomAD
rs372554606	p.Lys1053Glu	missense variant	-	NC_000020.11:g.46056542A>G	ESP,ExAC,gnomAD
rs1432267961	p.Lys1053Met	missense variant	-	NC_000020.11:g.46056543A>T	TOPMed
rs779136827	p.Phe1055Ser	missense variant	-	NC_000020.11:g.46056549T>C	ExAC,gnomAD
rs1385851381	p.Phe1055Leu	missense variant	-	NC_000020.11:g.46056550C>A	gnomAD
rs1321217422	p.Phe1056Leu	missense variant	-	NC_000020.11:g.46056551T>C	gnomAD
rs750612388	p.Ser1057Ile	missense variant	-	NC_000020.11:g.46056555G>T	ExAC,TOPMed,gnomAD
rs750612388	p.Ser1057Asn	missense variant	-	NC_000020.11:g.46056555G>A	ExAC,TOPMed,gnomAD
rs375422132	p.Met1058Ile	missense variant	-	NC_000020.11:g.46056559G>A	ESP,ExAC,gnomAD
rs1304640833	p.Pro1060Leu	missense variant	-	NC_000020.11:g.46056564C>T	gnomAD
COSM3693696	p.Glu1063Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46056906G>T	NCI-TCGA Cosmic
rs529949253	p.Gln1067Arg	missense variant	-	NC_000020.11:g.46057175A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs529949253	p.Gln1067Leu	missense variant	-	NC_000020.11:g.46057175A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs745381525	p.Ser1068Ala	missense variant	-	NC_000020.11:g.46057177T>G	ExAC,gnomAD
rs1295980278	p.Asn1069Asp	missense variant	-	NC_000020.11:g.46057180A>G	gnomAD
rs369042030	p.Arg1071Trp	missense variant	-	NC_000020.11:g.46057186C>T	ESP,TOPMed,gnomAD
rs1291356001	p.Arg1071Gln	missense variant	-	NC_000020.11:g.46057187G>A	TOPMed
rs548424453	p.Arg1072Cys	missense variant	Epilepsy, idiopathic generalized 14 (EIG14)	NC_000020.11:g.46057189C>T	UniProt,dbSNP
VAR_075083	p.Arg1072Cys	missense variant	Epilepsy, idiopathic generalized 14 (EIG14)	NC_000020.11:g.46057189C>T	UniProt
rs548424453	p.Arg1072Cys	missense variant	-	NC_000020.11:g.46057189C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs548424453	p.Arg1072Ser	missense variant	-	NC_000020.11:g.46057189C>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000202620	p.Arg1072Cys	missense variant	Epilepsy, idiopathic generalized, susceptibility to, 14 (EIG14)	NC_000020.11:g.46057189C>T	ClinVar
NCI-TCGA novel	p.Met1073Lys	missense variant	-	NC_000020.11:g.46057193T>A	NCI-TCGA
NCI-TCGA novel	p.Met1073Ile	missense variant	-	NC_000020.11:g.46057194G>A	NCI-TCGA
NCI-TCGA novel	p.Thr1075Met	missense variant	-	NC_000020.11:g.46057199C>T	NCI-TCGA
rs1489037061	p.Arg1078Gln	missense variant	-	NC_000020.11:g.46057208G>A	gnomAD
rs1420624470	p.Val1082Phe	missense variant	-	NC_000020.11:g.46057219G>T	gnomAD
rs770196677	p.Ile1083Val	missense variant	-	NC_000020.11:g.46057222A>G	ExAC,gnomAD
rs770196677	p.Ile1083Leu	missense variant	-	NC_000020.11:g.46057222A>C	ExAC,gnomAD
rs763066735	p.Val1084Leu	missense variant	-	NC_000020.11:g.46057225G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val1084Met	missense variant	-	NC_000020.11:g.46057225G>A	NCI-TCGA
rs1379814505	p.Ser1087Cys	missense variant	-	NC_000020.11:g.46057235C>G	TOPMed,gnomAD
COSM4098970	p.Arg1088Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46057237C>T	NCI-TCGA Cosmic
COSM4098971	p.Ala1090Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46057243G>A	NCI-TCGA Cosmic
rs1402047500	p.Asn1096Ser	missense variant	-	NC_000020.11:g.46057262A>G	gnomAD
COSM1483694	p.Gly1099Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46057270G>A	NCI-TCGA Cosmic
rs757147565	p.Arg1102Cys	missense variant	-	NC_000020.11:g.46057279C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg1102His	missense variant	-	NC_000020.11:g.46057280G>A	NCI-TCGA
COSM6093489	p.Asn1103Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46057284C>A	NCI-TCGA Cosmic
rs376095009	p.Arg1104Leu	missense variant	-	NC_000020.11:g.46057286G>T	ESP,ExAC,gnomAD
rs750376604	p.Asn1105Lys	missense variant	-	NC_000020.11:g.46057290T>A	ExAC,TOPMed,gnomAD
COSM3547193	p.Glu1108Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46057297G>A	NCI-TCGA Cosmic
rs374697509	p.Glu1112Asp	missense variant	-	NC_000020.11:g.46057521G>T	ESP,ExAC,TOPMed,gnomAD
rs766339265	p.Glu1112Gln	missense variant	-	NC_000020.11:g.46057519G>C	ExAC,gnomAD
RCV000585846	p.Glu1115Lys	missense variant	Early infantile epileptic encephalopathy 34 (EIEE34)	NC_000020.11:g.46057528G>A	ClinVar
rs1555868402	p.Glu1115Lys	missense variant	-	NC_000020.11:g.46057528G>A	-
rs1460872544	p.Leu1121Val	missense variant	-	NC_000020.11:g.46057546C>G	TOPMed
COSM4936868	p.Leu1121Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46057547T>G	NCI-TCGA Cosmic
COSM3547194	p.Arg1123Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.46057552C>T	NCI-TCGA Cosmic
rs754574210	p.Val1124Leu	missense variant	-	NC_000020.11:g.46057555G>T	ExAC,gnomAD
NCI-TCGA novel	p.Val1124Gly	missense variant	-	NC_000020.11:g.46057556T>G	NCI-TCGA
rs966217994	p.Arg1128Gly	missense variant	-	NC_000020.11:g.46057567C>G	TOPMed
rs1422241396	p.Gly1131Ser	missense variant	-	NC_000020.11:g.46057576G>A	gnomAD
rs1167419532	p.Gly1131Asp	missense variant	-	NC_000020.11:g.46057577G>A	gnomAD
rs756392554	p.Ile1137Ser	missense variant	-	NC_000020.11:g.46057595T>G	ExAC,gnomAD
rs554444367	p.Ile1137Val	missense variant	-	NC_000020.11:g.46057594A>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Tyr1138AlaPheSerTerUnk	frameshift	-	NC_000020.11:g.46057595_46057596insTG	NCI-TCGA
rs1442868117	p.Ser1139Ala	missense variant	-	NC_000020.11:g.46057600T>G	gnomAD
rs150192950	p.Ser1139Tyr	missense variant	-	NC_000020.11:g.46057601C>A	ESP,ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002736	Amyotrophic Lateral Sclerosis	disease	BEFREE
C0006118	Brain Neoplasms	group	BEFREE
C0006826	Malignant Neoplasms	group	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0007847	Malignant tumor of cervix	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009952	Febrile Convulsions	disease	BEFREE
C0013132	Drooling	phenotype	HPO
C0014544	Epilepsy	disease	BEFREE;CTD_human;MGD
C0014556	Epilepsy, Temporal Lobe	disease	BEFREE;CTD_human
C0014558	Uncinate Epilepsy	disease	CTD_human
C0020072	Hereditary Sensory Autonomic Neuropathy, Type 2	disease	BEFREE
C0020429	Hyperalgesia	phenotype	CTD_human
C0022333	Jacksonian Seizure	disease	CTD_human
C0025362	Mental Retardation	disease	HPO
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027651	Neoplasms	group	BEFREE
C0027796	Neuralgia	phenotype	BEFREE
C0035372	Rett Syndrome	disease	BEFREE
C0036341	Schizophrenia	disease	BEFREE;PSYGENET
C0036572	Seizures	phenotype	BEFREE;CTD_human
C0037036	Sialorrhea	disease	HPO
C0038220	Status Epilepticus	disease	BEFREE;CTD_human;HPO
C0086237	Epilepsy, Cryptogenic	disease	CTD_human
C0149958	Complex partial seizures	disease	CTD_human
C0150055	Chronic pain	phenotype	BEFREE
C0153676	Secondary malignant neoplasm of lung	disease	BEFREE
C0154671	Degenerative brain disorder	group	HPO
C0234132	Pyramidal sign	phenotype	HPO
C0234533	Generalized seizures	disease	CTD_human
C0234535	Seizures, Clonic	disease	CTD_human
C0235946	Cerebral atrophy	disease	HPO
C0236018	Aura	phenotype	CTD_human
C0270820	Gelastic Epilepsy	disease	BEFREE
C0270823	Petit mal status	disease	CTD_human
C0270824	Visual seizure	disease	CTD_human
C0270844	Tonic Seizures	phenotype	CTD_human
C0270846	Epileptic drop attack	disease	CTD_human
C0270850	Idiopathic generalized epilepsy	disease	BEFREE;CTD_human
C0279680	Transitional cell carcinoma of bladder	disease	BEFREE
C0302592	Cervix carcinoma	disease	BEFREE
C0311335	Grand Mal Status Epilepticus	disease	CTD_human
C0342418	Hypothalamic hamartomas	disease	BEFREE
C0393672	Epilepsy, Benign Psychomotor, Childhood	disease	CTD_human
C0393682	Epilepsy, Lateral Temporal	disease	CTD_human
C0393734	Complex Partial Status Epilepticus	disease	CTD_human
C0422850	Seizures, Somatosensory	phenotype	CTD_human
C0422852	Seizures, Auditory	phenotype	CTD_human
C0422853	Olfactory seizure	disease	CTD_human
C0422854	Gustatory seizure	phenotype	CTD_human
C0422855	Vertiginous seizure	disease	CTD_human
C0423903	Low intelligence	phenotype	HPO
C0458247	Allodynia	phenotype	CTD_human
C0494475	Tonic - clonic seizures	disease	CTD_human
C0525045	Mood Disorders	group	BEFREE;PSYGENET
C0543888	Epileptic encephalopathy	disease	BEFREE;GENOMICS_ENGLAND
C0557874	Global developmental delay	disease	HPO
C0560046	Unable to walk	phenotype	HPO
C0563625	Agnosia for Pain	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0751056	Non-epileptic convulsion	phenotype	CTD_human
C0751110	Single Seizure	disease	CTD_human
C0751111	Awakening Epilepsy	disease	CTD_human
C0751123	Atonic Absence Seizures	disease	CTD_human
C0751211	Hyperalgesia, Primary	phenotype	CTD_human
C0751212	Hyperalgesia, Secondary	phenotype	CTD_human
C0751213	Tactile Allodynia	phenotype	CTD_human
C0751214	Hyperalgesia, Thermal	phenotype	CTD_human
C0751494	Convulsive Seizures	phenotype	CTD_human
C0751495	Seizures, Focal	phenotype	BEFREE;CTD_human
C0751496	Seizures, Sensory	phenotype	CTD_human
C0751522	Status Epilepticus, Subclinical	disease	CTD_human
C0751523	Non-Convulsive Status Epilepticus	disease	CTD_human
C0751524	Simple Partial Status Epilepticus	disease	CTD_human
C0877017	Generalized tonic-clonic seizures with focal onset	disease	HPO
C0917816	Mental deficiency	disease	HPO
C1527249	Colorectal Cancer	disease	BEFREE;UNIPROT
C1843367	Poor school performance	phenotype	HPO
C1846620	Hemiclonic seizures	phenotype	HPO
C1847514	Postnatal microcephaly	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C2936719	Mechanical Allodynia	phenotype	CTD_human
C2939420	Metastatic Neoplasm	phenotype	BEFREE
C3495874	Nonepileptic Seizures	disease	CTD_human
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND;HPO
C4020860	Supratentorial atrophy	disease	HPO
C4020875	Mental and motor retardation	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4021758	Delayed CNS myelination	phenotype	HPO
C4048158	Convulsions	phenotype	CTD_human
C4048328	cervical cancer	disease	BEFREE
C4225245	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14	phenotype	CLINVAR;UNIPROT
C4225257	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34	disease	CLINVAR;CTD_human;UNIPROT
C4316903	Absence Seizures	phenotype	CTD_human
C4317109	Epileptic Seizures	disease	CTD_human
C4317123	Myoclonic Seizures	phenotype	CTD_human
C4505436	Generalized Absence Seizures	disease	CTD_human
C4518639	Epilepsy of infancy with migrating focal seizures	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0015108	chloride transmembrane transporter activity	IDA
GO:0015379	potassium:chloride symporter activity	IDA
GO:0015379	potassium:chloride symporter activity	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006811	ion transport	IDA
GO:0006811	ion transport	TAS
GO:0006873	cellular ion homeostasis	IDA
GO:0006884	cell volume homeostasis	IBA
GO:0006971	hypotonic response	IDA
GO:0007268	chemical synaptic transmission	IBA
GO:0007612	learning	IEA
GO:0030644	cellular chloride ion homeostasis	IDA
GO:0035264	multicellular organism growth	IEA
GO:0040040	thermosensory behavior	IEA
GO:0042493	response to drug	IEA
GO:0055064	chloride ion homeostasis	IBA
GO:0055075	potassium ion homeostasis	IBA
GO:0060996	dendritic spine development	IDA
GO:1902476	chloride transmembrane transport	IBA
GO:1990573	potassium ion import across plasma membrane	IBA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005623	cell	IEA
GO:0005886	plasma membrane	TAS
GO:0005887	integral component of plasma membrane	IEA
GO:0016021	integral component of membrane	IDA
GO:0045202	synapse	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-382551	Transport of small molecules	TAS
R-HSA-425393	Transport of inorganic cations/anions and amino acids/oligopeptides	TAS
R-HSA-425407	SLC-mediated transmembrane transport	TAS
R-HSA-426117	Cation-coupled Chloride cotransporters	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in decreased expression of SLC12A5 mRNA	28903501
C029790	2,2',3',4,4',5-hexachlorobiphenyl	2,2',3',4,4',5-hexachlorobiphenyl results in increased expression of SLC12A5 protein	21673325
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of SLC12A5 mRNA	19114083
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of SLC12A5 mRNA	16483693
D000661	Amphetamine	Amphetamine results in decreased expression of SLC12A5 mRNA	30779732
C015001	arsenite	arsenite results in increased methylation of SLC12A5 promoter	23974009
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of SLC12A5 mRNA	26001963
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of SLC12A5 mRNA	19770486
C006780	bisphenol A	bisphenol A promotes the reaction [MECP2 protein binds to SLC12A5 promoter]	23440186
C006780	bisphenol A	bisphenol A results in decreased expression of SLC12A5 mRNA	23440186
C006780	bisphenol A	bisphenol A results in decreased methylation of SLC12A5 promoter	27312807
C006780	bisphenol A	bisphenol A results in increased methylation of SLC12A5 promoter	23440186; 27312807;
C006780	bisphenol A	Decitabine inhibits the reaction [bisphenol A results in decreased expression of SLC12A5 mRNA]	23440186
C006780	bisphenol A	bisphenol A results in decreased expression of SLC12A5 protein	30953440
C006780	bisphenol A	bisphenol A results in decreased expression of SLC12A5 mRNA	23440186; 25181051; 30816183;
C006780	bisphenol A	HDAC1 mutant form inhibits the reaction [bisphenol A results in decreased expression of SLC12A5 mRNA]	23440186
C006780	bisphenol A	HDAC2 mutant form inhibits the reaction [bisphenol A results in decreased expression of SLC12A5 mRNA]	23440186
C006780	bisphenol A	trichostatin A inhibits the reaction [bisphenol A results in decreased expression of SLC12A5 mRNA]	23440186
C096324	botulinum toxin type C	botulinum toxin type C analog inhibits the reaction [Zinc results in increased activity of SLC12A5 protein]	22441041
C018475	butyraldehyde	butyraldehyde results in decreased expression of SLC12A5 mRNA	26079696
D002118	Calcium	Calcium affects the reaction [Zinc results in increased activity of SLC12A5 protein]	22441041
D002712	Chlorides	SLC12A5 protein results in increased export of Chlorides	18094240
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of SLC12A5 gene	20938992
C018021	cobaltous chloride	cobaltous chloride results in increased expression of SLC12A5 mRNA	17553155
D000077209	Decitabine	Decitabine inhibits the reaction [bisphenol A results in decreased expression of SLC12A5 mRNA]	23440186
D000077209	Decitabine	Decitabine results in increased expression of SLC12A5 mRNA	23440186
D003975	Diazepam	SLC12A5 protein results in increased susceptibility to Diazepam	16936706
D004041	Dietary Fats	Dietary Fats results in increased expression of SLC12A5 mRNA	25016146
C059990	((dihydroindenyl)oxy)alkanoic acid	((dihydroindenyl)oxy)alkanoic acid inhibits the reaction [SLC12A5 protein results in increased import of Thallium]	20086212
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of SLC12A5 mRNA	30165855
D000431	Ethanol	Ethanol affects the expression of and affects the splicing of SLC12A5 mRNA	30319688
D000431	Ethanol	Ethanol results in increased expression of SLC12A5 mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of SLC12A5 mRNA	23129252
D005033	Ethylmaleimide	Ethylmaleimide inhibits the reaction [SLC12A5 protein results in increased import of Thallium]	20086212
D005033	Ethylmaleimide	Ethylmaleimide results in increased activity of SLC12A5 protein	20086212
C540355	fenamidone	fenamidone results in decreased expression of SLC12A5 mRNA	27029645
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of SLC12A5 gene	20938992
D005665	Furosemide	Furosemide inhibits the reaction [SLC12A5 protein results in increased import of Thallium]	20086212
D005665	Furosemide	Furosemide results in decreased activity of SLC12A5 protein	18094240
D007854	Lead	Lead affects the expression of SLC12A5 mRNA	28903495
D008694	Methamphetamine	Methamphetamine results in decreased expression of SLC12A5 mRNA	29802913
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of SLC12A5 gene	20938992
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate results in increased expression of SLC12A5 mRNA	31059758
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of SLC12A5 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of SLC12A5 mRNA	25554681
D010862	Pilocarpine	Pilocarpine results in decreased expression of SLC12A5 mRNA	18550034
D010862	Pilocarpine	Pilocarpine results in decreased expression of SLC12A5 protein	18550034
D010862	Pilocarpine	Pilocarpine results in increased degradation of SLC12A5 protein	20600929
D010862	Pilocarpine	Pilocarpine results in increased phosphorylation of and affects the localization of SLC12A5 protein	20600929
D010862	Pilocarpine	Pilocarpine results in decreased expression of SLC12A5 mRNA	19674083
D010862	Pilocarpine	Pilocarpine results in decreased expression of SLC12A5 protein	18094240; 19674083;
D010936	Plant Extracts	Plant Extracts results in decreased expression of SLC12A5 mRNA	23557933
D059808	Polyphenols	Polyphenols results in decreased expression of SLC12A5 mRNA	16293270
D011189	Potassium Chloride	Potassium Chloride results in increased expression of SLC12A5 mRNA	16412482
D011192	Potassium Dichromate	Potassium Dichromate results in decreased expression of SLC12A5 mRNA	23608068
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of SLC12A5 mRNA	24780913
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of SLC12A5 mRNA	25895662
C017947	sodium arsenite	sodium arsenite affects the methylation of SLC12A5 gene	28589171
D019311	Staurosporine	Staurosporine inhibits the reaction [SLC12A5 protein results in increased import of Thallium]	20086212
D019311	Staurosporine	Staurosporine results in increased activity of SLC12A5 protein	20086212
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of SLC12A5 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of SLC12A5 mRNA	19770486; 29673856;
D013750	Tetrachloroethylene	Tetrachloroethylene results in decreased expression of SLC12A5 mRNA	28973375
D013793	Thallium	((dihydroindenyl)oxy)alkanoic acid inhibits the reaction [SLC12A5 protein results in increased import of Thallium]	20086212
D013793	Thallium	Ethylmaleimide inhibits the reaction [SLC12A5 protein results in increased import of Thallium]	20086212
D013793	Thallium	Furosemide inhibits the reaction [SLC12A5 protein results in increased import of Thallium]	20086212
D013793	Thallium	SLC12A5 protein results in increased import of Thallium	20086212
D013793	Thallium	Staurosporine inhibits the reaction [SLC12A5 protein results in increased import of Thallium]	20086212
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of SLC12A5 mRNA	20133372
D014212	Tretinoin	Tretinoin results in decreased expression of SLC12A5 mRNA	24977338
C012589	trichostatin A	trichostatin A inhibits the reaction [bisphenol A results in decreased expression of SLC12A5 mRNA]	23440186
C015559	trimellitic anhydride	trimellitic anhydride results in decreased expression of SLC12A5 mRNA	19042947
D014303	Trinitrotoluene	Trinitrotoluene affects the expression of SLC12A5 mRNA	21346803
D017974	Uranium Compounds	Uranium Compounds results in increased expression of SLC12A5 mRNA	19654044
D014635	Valproic Acid	Valproic Acid results in decreased expression of SLC12A5 mRNA	29427782
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of SLC12A5 gene	25560391
D015032	Zinc	botulinum toxin type C analog inhibits the reaction [Zinc results in increased activity of SLC12A5 protein]	22441041
D015032	Zinc	Calcium affects the reaction [Zinc results in increased activity of SLC12A5 protein]	22441041
D015032	Zinc	Zinc results in increased activity of SLC12A5 protein	22441041
D015032	Zinc	GPR39 gene mutant form inhibits the reaction [Zinc results in increased expression of SLC12A5 protein]	22441041
D015032	Zinc	[Zinc results in increased activity of GPR39 protein] which results in increased expression of and results in increased activity of SLC12A5 protein	22441041
D015032	Zinc	Zinc results in increased expression of SLC12A5 protein	22441041

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0868	Chloride
KW-0225	Disease mutation
KW-0887	Epilepsy
KW-0325	Glycoprotein
KW-0406	Ion transport
KW-0472	Membrane
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0630	Potassium
KW-0633	Potassium transport
KW-1185	Reference proteome
KW-0769	Symport
KW-0812	Transmembrane
KW-1133	Transmembrane helix
KW-0813	Transport

Interpro

InterPro ID	InterPro Term
IPR004841	AA-permease/SLC12A_dom
IPR030358	KCC2
IPR000076	KCL_cotranspt
IPR018491	SLC12_C
IPR004842	SLC12A_fam

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF00324	AA_permease
PF03522	SLC12

Gene: SLC12A5

Basic information

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

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