CleftGeneDB-Search

Gene: SERPINA6

Basic information

Tag	Content
Uniprot ID	P08185; A8K456; Q7Z2Q9;
Entrez ID	866
Genbank protein ID	EAW81568.1; AAH56259.1; AAB59523.1; AAH58021.1; BAF83510.1;
Genbank nucleotide ID	NM_001756.3
Ensembl protein ID	ENSP00000342850; ENSP00000484501;
Ensembl nucleotide ID	ENSG00000277405; ENSG00000170099;
Gene name	Corticosteroid-binding globulin
Gene symbol	SERPINA6
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	22072571
Functional description	Major transport protein for glucocorticoids and progestins in the blood of almost all vertebrate species.
Sequence	MPLLLYTCLL WLPTSGLWTV QAMDPNAAYV NMSNHHRGLA SANVDFAFSL YKHLVALSPK 60 KNIFISPVSI SMALAMLSLG TCGHTRAQLL QGLGFNLTER SETEIHQGFQ HLHQLFAKSD 120 TSLEMTMGNA LFLDGSLELL ESFSADIKHY YESEVLAMNF QDWATASRQI NSYVKNKTQG 180 KIVDLFSGLD SPAILVLVNY IFFKGTWTQP FDLASTREEN FYVDETTVVK VPMMLQSSTI 240 SYLHDSELPC QLVQMNYVGN GTVFFILPDK GKMNTVIAAL SRDTINRWSA GLTSSQVDLY 300 IPKVTISGVY DLGDVLEEMG IADLFTNQAN FSRITQDAQL KSSKVVHKAV LQLNEEGVDT 360 AGSTGVTLNL TSKPIILRFN QPFIIMIFDH FTWSSLFLAR VMNPV 405

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
2VDX
2VDY
4BB2
4C41
4C49
2VDX
4BB2
4C41

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	SERPINA6	513746	E1BF81	Bos taurus	Prediction	More>>
1:1 ortholog	SERPINA11	490838	F1PHS2	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	SERPINA6	102171661	A0A452FGE5	Capra hircus	Prediction	More>>
1:1 ortholog	SERPINA6	866	P08185	Homo sapiens	Publication	More>>
1:1 ortholog	Serpina6	12401	Q06770	Mus musculus	Prediction	More>>
1:1 ortholog	SERPINA6	453131	H2Q8V1	Pan troglodytes	Prediction	More>>
1:1 ortholog	Serpina6	299270	P31211	Rattus norvegicus	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
SERPINA6	rs11627651	PCR-RFLP	22072571
SERPINA6	rs2228541	PCR-RFLP	22072571
SERPINA6	rs2281519	PCR-RFLP	22072571

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
NCI-TCGA novel	p.Met1Unk	frameshift	-	NC_000014.9:g.94314647_94314648insAAGTC	NCI-TCGA
rs763107074	p.Pro2Gln	missense variant	-	NC_000014.9:g.94314644G>T	ExAC,TOPMed,gnomAD
COSM4392570	p.Leu3Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94314642G>A	NCI-TCGA Cosmic
COSM1587696	p.Leu5Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94314636G>T	NCI-TCGA Cosmic
rs752853327	p.Leu5Pro	missense variant	-	NC_000014.9:g.94314635A>G	ExAC
rs1330298936	p.Thr7Pro	missense variant	-	NC_000014.9:g.94314630T>G	gnomAD
rs1287480013	p.Thr7Ile	missense variant	-	NC_000014.9:g.94314629G>A	TOPMed
rs139544351	p.Cys8Phe	missense variant	-	NC_000014.9:g.94314626C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150568135	p.Leu9Phe	missense variant	-	NC_000014.9:g.94314624G>A	ESP,TOPMed,gnomAD
rs150568135	p.Leu9Ile	missense variant	-	NC_000014.9:g.94314624G>T	ESP,TOPMed,gnomAD
rs777245398	p.Trp11Ter	stop gained	-	NC_000014.9:g.94314617C>T	ExAC,gnomAD
rs771517988	p.Trp11Ter	stop gained	-	NC_000014.9:g.94314616C>T	ExAC,gnomAD
rs1237575015	p.Pro13Leu	missense variant	-	NC_000014.9:g.94314611G>A	gnomAD
rs772782016	p.Pro13Ser	missense variant	-	NC_000014.9:g.94314612G>A	ExAC,gnomAD
rs142631353	p.Thr14Ile	missense variant	-	NC_000014.9:g.94314608G>A	ESP,ExAC,TOPMed,gnomAD
rs142631353	p.Thr14Ser	missense variant	-	NC_000014.9:g.94314608G>C	ESP,ExAC,TOPMed,gnomAD
rs768544398	p.Ser15Arg	missense variant	-	NC_000014.9:g.94314604G>T	ExAC,TOPMed,gnomAD
rs747876567	p.Ser15Gly	missense variant	-	NC_000014.9:g.94314606T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly16Asp	missense variant	-	NC_000014.9:g.94314602C>T	NCI-TCGA
rs748984466	p.Gly16Ser	missense variant	-	NC_000014.9:g.94314603C>T	ExAC,TOPMed,gnomAD
rs748984466	p.Gly16Cys	missense variant	-	NC_000014.9:g.94314603C>A	ExAC,TOPMed,gnomAD
rs998572459	p.Leu17His	missense variant	-	NC_000014.9:g.94314599A>T	TOPMed
NCI-TCGA novel	p.Trp18Ter	stop gained	-	NC_000014.9:g.94314595C>T	NCI-TCGA
rs1288807821	p.Trp18Arg	missense variant	-	NC_000014.9:g.94314597A>G	gnomAD
COSM4902411	p.Thr19Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94314593G>T	NCI-TCGA Cosmic
rs139446936	p.Val20Ile	missense variant	-	NC_000014.9:g.94314591C>T	ESP,ExAC,TOPMed,gnomAD
rs371119681	p.Gln21Ter	stop gained	-	NC_000014.9:g.94314588G>A	ESP,ExAC,TOPMed,gnomAD
rs1300550199	p.Met23Thr	missense variant	-	NC_000014.9:g.94314581A>G	TOPMed
rs146176684	p.Pro25Ser	missense variant	-	NC_000014.9:g.94314576G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753007057	p.Ala27Thr	missense variant	-	NC_000014.9:g.94314570C>T	ExAC,TOPMed,gnomAD
rs1385354738	p.Ala28Val	missense variant	-	NC_000014.9:g.94314566G>A	gnomAD
rs1299969579	p.Tyr29Asn	missense variant	-	NC_000014.9:g.94314564A>T	gnomAD
rs1301766188	p.Tyr29Ter	stop gained	-	NC_000014.9:g.94314562A>T	TOPMed
COSM4400185	p.Met32Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94314553C>T	NCI-TCGA Cosmic
rs755394835	p.Met32Leu	missense variant	-	NC_000014.9:g.94314555T>G	ExAC,TOPMed,gnomAD
rs776422169	p.Ser33Ile	missense variant	-	NC_000014.9:g.94314551C>A	TOPMed
rs1379599510	p.Asn34Lys	missense variant	-	NC_000014.9:g.94314547G>C	TOPMed,gnomAD
rs148218218	p.His36Pro	missense variant	-	NC_000014.9:g.94314542T>G	ESP,ExAC,TOPMed,gnomAD
rs143058829	p.His36Gln	missense variant	-	NC_000014.9:g.94314541G>T	ESP,ExAC,TOPMed,gnomAD
rs148218218	p.His36Arg	missense variant	-	NC_000014.9:g.94314542T>C	ESP,ExAC,TOPMed,gnomAD
rs201703843	p.Arg37Trp	missense variant	-	NC_000014.9:g.94314540G>A	1000Genomes,TOPMed
rs199612438	p.Arg37Gln	missense variant	-	NC_000014.9:g.94314539C>T	ExAC,TOPMed,gnomAD
rs761204701	p.Gly38Val	missense variant	-	NC_000014.9:g.94314536C>A	ExAC,TOPMed
rs767174033	p.Gly38Cys	missense variant	-	NC_000014.9:g.94314537C>A	ExAC,TOPMed,gnomAD
rs767174033	p.Gly38Ser	missense variant	-	NC_000014.9:g.94314537C>T	ExAC,TOPMed,gnomAD
rs768150666	p.Leu39Val	missense variant	-	NC_000014.9:g.94314534G>C	ExAC,gnomAD
rs1432227317	p.Ser41Ala	missense variant	-	NC_000014.9:g.94314528A>C	TOPMed
rs1488280921	p.Ala42Val	missense variant	-	NC_000014.9:g.94314524G>A	gnomAD
rs1293105465	p.Asn43Asp	missense variant	-	NC_000014.9:g.94314522T>C	gnomAD
rs749109208	p.Asn43Lys	missense variant	-	NC_000014.9:g.94314520G>T	ExAC,gnomAD
rs537835110	p.Val44Ala	missense variant	-	NC_000014.9:g.94314518A>G	NCI-TCGA
rs750000108	p.Val44Ile	missense variant	-	NC_000014.9:g.94314519C>T	ExAC,TOPMed,gnomAD
rs537835110	p.Val44Ala	missense variant	-	NC_000014.9:g.94314518A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp45Gly	missense variant	-	NC_000014.9:g.94314515T>C	NCI-TCGA
NCI-TCGA novel	p.Asp45Val	missense variant	-	NC_000014.9:g.94314515T>A	NCI-TCGA
rs1429771898	p.Ala47Val	missense variant	-	NC_000014.9:g.94314509G>A	TOPMed
rs1279922831	p.Tyr51Cys	missense variant	-	NC_000014.9:g.94314497T>C	gnomAD
rs1397908293	p.His53Pro	missense variant	-	NC_000014.9:g.94314491T>G	gnomAD
rs1359866404	p.Val55Glu	missense variant	-	NC_000014.9:g.94314485A>T	TOPMed,gnomAD
rs1484736032	p.Ala56Asp	missense variant	-	NC_000014.9:g.94314482G>T	TOPMed,gnomAD
rs758525045	p.Ser58Cys	missense variant	-	NC_000014.9:g.94314477T>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro59His	missense variant	-	NC_000014.9:g.94314473G>T	NCI-TCGA
NCI-TCGA novel	p.Pro59Ser	missense variant	-	NC_000014.9:g.94314474G>A	NCI-TCGA
NCI-TCGA novel	p.Pro59Leu	missense variant	-	NC_000014.9:g.94314473G>A	NCI-TCGA
rs748129916	p.Lys61Asn	missense variant	-	NC_000014.9:g.94314466C>A	ExAC,gnomAD
rs1192007952	p.Asn62Ser	missense variant	-	NC_000014.9:g.94314464T>C	gnomAD
rs1257561313	p.Phe64Cys	missense variant	-	NC_000014.9:g.94314458A>C	gnomAD
rs1203867726	p.Ile65Phe	missense variant	-	NC_000014.9:g.94314456T>A	TOPMed,gnomAD
rs1203867726	p.Ile65Val	missense variant	-	NC_000014.9:g.94314456T>C	TOPMed,gnomAD
rs1477689690	p.Ser66Ala	missense variant	-	NC_000014.9:g.94314453A>C	gnomAD
rs1003009602	p.Pro67Leu	missense variant	-	NC_000014.9:g.94314449G>A	TOPMed,gnomAD
rs922608302	p.Val68Met	missense variant	-	NC_000014.9:g.94314447C>T	TOPMed
rs370353870	p.Ile70Asn	missense variant	-	NC_000014.9:g.94314440A>T	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Met72Ile	missense variant	-	NC_000014.9:g.94314433C>T	NCI-TCGA
rs1452840521	p.Met72Val	missense variant	-	NC_000014.9:g.94314435T>C	gnomAD
rs199720892	p.Met72Thr	missense variant	-	NC_000014.9:g.94314434A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs146744332	p.Ala73Val	missense variant	-	NC_000014.9:g.94314431G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys82Ter	stop gained	-	NC_000014.9:g.94314403A>T	NCI-TCGA
rs751015476	p.Thr85Ile	missense variant	-	NC_000014.9:g.94314395G>A	ExAC,gnomAD
rs199541890	p.Arg86Gln	missense variant	-	NC_000014.9:g.94314392C>T	ESP,ExAC,TOPMed,gnomAD
rs199699199	p.Arg86Trp	missense variant	-	NC_000014.9:g.94314393G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199699199	p.Arg86Trp	missense variant	-	NC_000014.9:g.94314393G>A	NCI-TCGA,NCI-TCGA Cosmic
rs199541890	p.Arg86Leu	missense variant	-	NC_000014.9:g.94314392C>A	ESP,ExAC,TOPMed,gnomAD
COSM6076467	p.Ala87Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94314389G>T	NCI-TCGA Cosmic
rs1402795109	p.Ala87Thr	missense variant	-	NC_000014.9:g.94314390C>T	TOPMed,gnomAD
rs775123612	p.Leu90Phe	missense variant	-	NC_000014.9:g.94314381G>A	ExAC,TOPMed,gnomAD
rs775123612	p.Leu90Ile	missense variant	-	NC_000014.9:g.94314381G>T	ExAC,TOPMed,gnomAD
rs775123612	p.Leu90Ile	missense variant	-	NC_000014.9:g.94314381G>T	NCI-TCGA,NCI-TCGA Cosmic
rs1433974024	p.Gly92Ser	missense variant	-	NC_000014.9:g.94314375C>T	TOPMed
COSM3886603	p.Gly94Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94314369C>T	NCI-TCGA Cosmic
rs1246633584	p.Leu97Ile	missense variant	-	NC_000014.9:g.94314360G>T	gnomAD
rs922069031	p.Arg100Lys	missense variant	-	NC_000014.9:g.94314350C>T	TOPMed
rs922069031	p.Arg100Thr	missense variant	-	NC_000014.9:g.94314350C>G	TOPMed
rs1196320141	p.Glu102Asp	missense variant	-	NC_000014.9:g.94314343C>G	gnomAD
rs776573032	p.Glu102Lys	missense variant	-	NC_000014.9:g.94314345C>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr103Ile	missense variant	-	NC_000014.9:g.94314341G>A	NCI-TCGA
rs770736077	p.Thr103Ser	missense variant	-	NC_000014.9:g.94314341G>C	ExAC,gnomAD
rs1278995218	p.Glu104Asp	missense variant	-	NC_000014.9:g.94314337C>A	gnomAD
NCI-TCGA novel	p.His106Tyr	missense variant	-	NC_000014.9:g.94314333G>A	NCI-TCGA
rs1220722003	p.His106Arg	missense variant	-	NC_000014.9:g.94314332T>C	gnomAD
rs1219781994	p.Gln107His	missense variant	-	NC_000014.9:g.94314328C>G	TOPMed
rs1012631736	p.Gln107Ter	stop gained	-	NC_000014.9:g.94314330G>A	TOPMed
rs1274161889	p.Gly108Val	missense variant	-	NC_000014.9:g.94314326C>A	gnomAD
NCI-TCGA novel	p.Gly108Ser	missense variant	-	NC_000014.9:g.94314327C>T	NCI-TCGA
rs748264131	p.Phe109Leu	missense variant	-	NC_000014.9:g.94314324A>G	ExAC,gnomAD
rs778802358	p.Gln110Ter	stop gained	-	NC_000014.9:g.94314321G>A	ExAC,TOPMed,gnomAD
rs187253929	p.His111Tyr	missense variant	-	NC_000014.9:g.94314318G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs776044619	p.His111Gln	missense variant	-	NC_000014.9:g.94314316G>T	ExAC,TOPMed,gnomAD
rs1245822115	p.Leu112Gln	missense variant	-	NC_000014.9:g.94314314A>T	TOPMed
NCI-TCGA novel	p.His113Tyr	missense variant	-	NC_000014.9:g.94314312G>A	NCI-TCGA
rs1426697130	p.His113Arg	missense variant	-	NC_000014.9:g.94314311T>C	gnomAD
COSM257987	p.Gln114His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94314307T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln114Leu	missense variant	-	NC_000014.9:g.94314308T>A	NCI-TCGA
rs113418909	p.Leu115His	missense variant	-	NC_000014.9:g.94314305A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000479165	p.Leu115His	missense variant	-	NC_000014.9:g.94314305A>T	ClinVar
rs113418909	p.Leu115His	missense variant	Corticosteroid-binding globulin deficiency (CBG deficiency)	NC_000014.9:g.94314305A>T	UniProt,dbSNP
VAR_007111	p.Leu115His	missense variant	Corticosteroid-binding globulin deficiency (CBG deficiency)	NC_000014.9:g.94314305A>T	UniProt
rs756569160	p.Leu115Ile	missense variant	-	NC_000014.9:g.94314306G>T	ExAC,TOPMed,gnomAD
rs1460592467	p.Phe116Leu	missense variant	-	NC_000014.9:g.94314301A>C	gnomAD
rs1160993967	p.Lys118Arg	missense variant	-	NC_000014.9:g.94314296T>C	TOPMed
rs377478491	p.Asp120His	missense variant	-	NC_000014.9:g.94314291C>G	ESP,ExAC
rs1159602844	p.Thr121Ser	missense variant	-	NC_000014.9:g.94314287G>C	TOPMed,gnomAD
rs202107375	p.Glu124Gly	missense variant	-	NC_000014.9:g.94314278T>C	ExAC,TOPMed,gnomAD
rs762497186	p.Met127Thr	missense variant	-	NC_000014.9:g.94314269A>G	ExAC,gnomAD
rs752400429	p.Met127Ile	missense variant	-	NC_000014.9:g.94314268C>A	ExAC,TOPMed,gnomAD
rs763581643	p.Met127Val	missense variant	-	NC_000014.9:g.94314270T>C	ExAC,gnomAD
rs1212019872	p.Gly128Val	missense variant	-	NC_000014.9:g.94314266C>A	gnomAD
rs764824086	p.Ala130Val	missense variant	-	NC_000014.9:g.94314260G>A	ExAC,gnomAD
rs1310172418	p.Ala130Thr	missense variant	-	NC_000014.9:g.94314261C>T	TOPMed,gnomAD
COSM4405754	p.Leu133Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94314252G>A	NCI-TCGA Cosmic
COSM4414446	p.Asp134Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94314247A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp134Gly	missense variant	-	NC_000014.9:g.94314248T>C	NCI-TCGA
rs576835982	p.Ser136Arg	missense variant	-	NC_000014.9:g.94314241G>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu138Lys	missense variant	-	NC_000014.9:g.94314237C>T	NCI-TCGA
rs760589588	p.Leu139Phe	missense variant	-	NC_000014.9:g.94314232C>A	ExAC,TOPMed,gnomAD
rs773169450	p.Glu141Lys	missense variant	-	NC_000014.9:g.94314228C>T	ExAC,TOPMed,gnomAD
rs773169450	p.Glu141Ter	stop gained	-	NC_000014.9:g.94314228C>A	ExAC,TOPMed,gnomAD
rs768665551	p.Ser142Leu	missense variant	-	NC_000014.9:g.94314224G>A	ExAC,gnomAD
rs749331141	p.Ala145Gly	missense variant	-	NC_000014.9:g.94314215G>C	ExAC,gnomAD
COSM1651277	p.Ile147Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94314209A>T	NCI-TCGA Cosmic
rs1421995088	p.Ile147Val	missense variant	-	NC_000014.9:g.94314210T>C	gnomAD
rs1156373008	p.Lys148Asn	missense variant	-	NC_000014.9:g.94314205C>A	TOPMed,gnomAD
rs760917391	p.Tyr151Cys	missense variant	-	NC_000014.9:g.94314197T>C	TOPMed,gnomAD
rs1183201844	p.Glu152Lys	missense variant	-	NC_000014.9:g.94314195C>T	gnomAD
rs141500229	p.Ser153Leu	missense variant	-	NC_000014.9:g.94314191G>A	ESP,ExAC,TOPMed,gnomAD
rs374185317	p.Ser153Thr	missense variant	-	NC_000014.9:g.94314192A>T	ESP,ExAC,TOPMed,gnomAD
rs1453918017	p.Val155Asp	missense variant	-	NC_000014.9:g.94314185A>T	TOPMed,gnomAD
rs1453918017	p.Val155Ala	missense variant	-	NC_000014.9:g.94314185A>G	TOPMed,gnomAD
rs1489270021	p.Val155Ile	missense variant	-	NC_000014.9:g.94314186C>T	gnomAD
rs757873099	p.Asn159Ser	missense variant	-	NC_000014.9:g.94314173T>C	ExAC,TOPMed,gnomAD
rs752163522	p.Gln161Ter	stop gained	-	NC_000014.9:g.94314168G>A	ExAC,gnomAD
rs376846419	p.Trp163Arg	missense variant	-	NC_000014.9:g.94314162A>G	NCI-TCGA,NCI-TCGA Cosmic
rs376846419	p.Trp163Arg	missense variant	-	NC_000014.9:g.94314162A>G	ESP
rs561845008	p.Trp163Ter	stop gained	-	NC_000014.9:g.94314161C>T	ExAC,gnomAD
rs759133022	p.Trp163Ter	stop gained	-	NC_000014.9:g.94314160C>T	ExAC,gnomAD
rs561845008	p.Trp163Ser	missense variant	-	NC_000014.9:g.94314161C>G	ExAC,gnomAD
COSM6141344	p.Ala164Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94314159C>A	NCI-TCGA Cosmic
rs766126799	p.Ser167Asn	missense variant	-	NC_000014.9:g.94314149C>T	ExAC,gnomAD
rs1359225041	p.Arg168Ter	stop gained	-	NC_000014.9:g.94314147T>A	gnomAD
rs760494725	p.Gln169His	missense variant	-	NC_000014.9:g.94314142C>G	ExAC,gnomAD
rs773046265	p.Ile170Phe	missense variant	-	NC_000014.9:g.94314141T>A	ExAC,gnomAD
rs1052759090	p.Asn171Lys	missense variant	-	NC_000014.9:g.94314136G>T	gnomAD
rs777877328	p.Tyr173Asn	missense variant	-	NC_000014.9:g.94314132A>T	ExAC
rs775649161	p.Lys175Asn	missense variant	-	NC_000014.9:g.94314124C>G	ExAC,gnomAD
rs1382498213	p.Gln179Glu	missense variant	-	NC_000014.9:g.94314114G>C	TOPMed,gnomAD
rs769978145	p.Gly180Glu	missense variant	-	NC_000014.9:g.94314110C>T	ExAC,TOPMed,gnomAD
rs1215754630	p.Lys181Glu	missense variant	-	NC_000014.9:g.94314108T>C	gnomAD
rs746155857	p.Ile182Thr	missense variant	-	NC_000014.9:g.94314104A>G	ExAC,TOPMed,gnomAD
rs182173676	p.Asp184Asn	missense variant	-	NC_000014.9:g.94314099C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs182173676	p.Asp184Tyr	missense variant	-	NC_000014.9:g.94314099C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1321415815	p.Asp190His	missense variant	-	NC_000014.9:g.94314081C>G	gnomAD
rs1220896385	p.Ser191Asn	missense variant	-	NC_000014.9:g.94314077C>T	TOPMed,gnomAD
rs1220896385	p.Ser191Thr	missense variant	-	NC_000014.9:g.94314077C>G	TOPMed,gnomAD
rs747354796	p.Pro192Gln	missense variant	-	NC_000014.9:g.94314074G>T	ExAC,gnomAD
rs1338852515	p.Pro192Ser	missense variant	-	NC_000014.9:g.94314075G>A	gnomAD
NCI-TCGA novel	p.Ala193Val	missense variant	-	NC_000014.9:g.94314071G>A	NCI-TCGA
rs747671539	p.Val196Ile	missense variant	-	NC_000014.9:g.94314063C>T	NCI-TCGA,NCI-TCGA Cosmic
rs747671539	p.Val196Ile	missense variant	-	NC_000014.9:g.94314063C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val198Ile	missense variant	-	NC_000014.9:g.94314057C>T	NCI-TCGA
rs754482221	p.Tyr200Cys	missense variant	-	NC_000014.9:g.94314050T>C	ExAC,TOPMed,gnomAD
rs367840035	p.Ile201Val	missense variant	-	NC_000014.9:g.94314048T>C	ESP,gnomAD
rs766006279	p.Phe203Leu	missense variant	-	NC_000014.9:g.94314042A>G	ExAC
COSM3499299	p.Gly205Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94314036C>T	NCI-TCGA Cosmic
rs750663821	p.Thr206Lys	missense variant	-	NC_000014.9:g.94310003G>T	ExAC,TOPMed,gnomAD
rs1037407899	p.Trp207Arg	missense variant	-	NC_000014.9:g.94310001A>G	TOPMed
rs1265997694	p.Trp207Cys	missense variant	-	NC_000014.9:g.94309999C>A	TOPMed,gnomAD
rs1192077233	p.Thr208Ile	missense variant	-	NC_000014.9:g.94309997G>A	gnomAD
rs142314764	p.Gln209Glu	missense variant	-	NC_000014.9:g.94309995G>C	ESP,ExAC,TOPMed,gnomAD
rs148747799	p.Gln209Pro	missense variant	-	NC_000014.9:g.94309994T>G	ESP,TOPMed,gnomAD
rs762168966	p.Pro210Arg	missense variant	-	NC_000014.9:g.94309991G>C	ExAC,TOPMed,gnomAD
rs1283017247	p.Pro210Ser	missense variant	-	NC_000014.9:g.94309992G>A	gnomAD
rs774641088	p.Leu213Arg	missense variant	-	NC_000014.9:g.94309982A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu213Met	missense variant	-	NC_000014.9:g.94309983G>T	NCI-TCGA
rs144992509	p.Arg217Thr	missense variant	-	NC_000014.9:g.94309970C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu218Ter	stop gained	-	NC_000014.9:g.94309968C>A	NCI-TCGA
rs775826357	p.Glu219Gly	missense variant	-	NC_000014.9:g.94309964T>C	ExAC,gnomAD
rs1354259172	p.Asn220Asp	missense variant	-	NC_000014.9:g.94309962T>C	TOPMed
rs769392840	p.Asn220Ile	missense variant	-	NC_000014.9:g.94309961T>A	ExAC,gnomAD
COSM6141346	p.Phe221Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94309959A>T	NCI-TCGA Cosmic
rs745324496	p.Val223Ala	missense variant	-	NC_000014.9:g.94309952A>G	ExAC,TOPMed,gnomAD
rs781027025	p.Asp224Asn	stop gained	-	NC_000014.9:g.94309950C>T	NCI-TCGA,NCI-TCGA Cosmic
rs781027025	p.Asp224Asn	missense variant	-	NC_000014.9:g.94309950C>T	ExAC
NCI-TCGA novel	p.Glu225Ter	stop gained	-	NC_000014.9:g.94309947C>A	NCI-TCGA
rs370762935	p.Glu225Lys	missense variant	-	NC_000014.9:g.94309947C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1388905843	p.Val228Gly	missense variant	-	NC_000014.9:g.94309937A>C	gnomAD
rs1313723185	p.Lys230Arg	missense variant	-	NC_000014.9:g.94309931T>C	TOPMed
rs1164415645	p.Val231Met	missense variant	-	NC_000014.9:g.94309929C>T	gnomAD
rs746818305	p.Pro232Ser	missense variant	-	NC_000014.9:g.94309926G>A	ExAC,TOPMed,gnomAD
rs1426136858	p.Pro232His	missense variant	-	NC_000014.9:g.94309925G>T	gnomAD
rs777769941	p.Met233Val	missense variant	-	NC_000014.9:g.94309923T>C	ExAC,gnomAD
rs758124674	p.Met233Thr	missense variant	-	NC_000014.9:g.94309922A>G	ExAC,gnomAD
rs758124674	p.Met233Arg	missense variant	-	NC_000014.9:g.94309922A>C	ExAC,gnomAD
rs752721162	p.Met233Ile	missense variant	-	NC_000014.9:g.94309921C>T	ExAC
NCI-TCGA novel	p.Met234Thr	missense variant	-	NC_000014.9:g.94309919A>G	NCI-TCGA
rs1482984628	p.Met234Ile	missense variant	-	NC_000014.9:g.94309918C>G	TOPMed
rs756246894	p.Ser237Trp	missense variant	-	NC_000014.9:g.94309910G>C	ExAC,TOPMed,gnomAD
rs756246894	p.Ser237Leu	missense variant	-	NC_000014.9:g.94309910G>A	ExAC,TOPMed,gnomAD
rs767739597	p.Ser238Asn	missense variant	-	NC_000014.9:g.94309907C>T	ExAC,TOPMed,gnomAD
rs764555427	p.Thr239Ser	missense variant	-	NC_000014.9:g.94309904G>C	ExAC,TOPMed,gnomAD
rs757533020	p.Thr239Ala	missense variant	-	NC_000014.9:g.94309905T>C	ExAC,TOPMed,gnomAD
rs764555427	p.Thr239Ile	missense variant	-	NC_000014.9:g.94309904G>A	ExAC,TOPMed,gnomAD
rs763202082	p.Ser241Asn	missense variant	-	NC_000014.9:g.94309898C>T	ExAC,gnomAD
rs1212582054	p.Ser241Gly	missense variant	-	NC_000014.9:g.94309899T>C	TOPMed,gnomAD
rs776085185	p.Leu243Phe	missense variant	-	NC_000014.9:g.94309893G>A	ExAC,gnomAD
rs1368821406	p.Leu243Pro	missense variant	-	NC_000014.9:g.94309892A>G	gnomAD
rs1325477013	p.His244Arg	missense variant	-	NC_000014.9:g.94309889T>C	gnomAD
rs765624279	p.Asp245Glu	missense variant	-	NC_000014.9:g.94309885G>C	ExAC,TOPMed,gnomAD
rs2228541	p.Ser246Thr	missense variant	-	NC_000014.9:g.94309884A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2228541	p.Ser246Ala	missense variant	-	NC_000014.9:g.94309884A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2228541	p.Ser246Ala	missense variant	-	NC_000014.9:g.94309884A>C	UniProt,dbSNP
VAR_024350	p.Ser246Ala	missense variant	-	NC_000014.9:g.94309884A>C	UniProt
rs1329784214	p.Ser246Leu	missense variant	-	NC_000014.9:g.94309883G>A	TOPMed,gnomAD
rs1035749123	p.Glu247Gly	missense variant	-	NC_000014.9:g.94309880T>C	TOPMed,gnomAD
rs751337215	p.del247TerValSerGluTrpMetGlyGluTerValAsnGlyGluTer	stop gained	-	NC_000014.9:g.94309881_94309882insTCATTCTCCATTCACTCACTCACCCATCCATTCACTCACTCA	ExAC
rs746726203	p.Pro249Thr	missense variant	-	NC_000014.9:g.94309875G>T	ExAC,gnomAD
rs1392659979	p.Cys250Gly	missense variant	-	NC_000014.9:g.94309872A>C	TOPMed,gnomAD
rs1192452192	p.Leu252Met	missense variant	-	NC_000014.9:g.94309866G>T	gnomAD
rs1192452192	p.Leu252Val	missense variant	-	NC_000014.9:g.94309866G>C	gnomAD
NCI-TCGA novel	p.Met255Ile	missense variant	-	NC_000014.9:g.94309855C>A	NCI-TCGA
rs751154079	p.Tyr257Cys	missense variant	-	NC_000014.9:g.94309850T>C	ExAC,gnomAD
rs1002170347	p.Tyr257His	missense variant	-	NC_000014.9:g.94309851A>G	TOPMed
rs778913169	p.Val258Met	missense variant	-	NC_000014.9:g.94309848C>T	ExAC,TOPMed,gnomAD
rs778913169	p.Val258Leu	missense variant	-	NC_000014.9:g.94309848C>G	ExAC,TOPMed,gnomAD
rs754814260	p.Gly259Val	missense variant	-	NC_000014.9:g.94309844C>A	ExAC,gnomAD
rs1458251726	p.Gly259Ser	missense variant	-	NC_000014.9:g.94309845C>T	TOPMed
rs749209941	p.Asn260Lys	missense variant	-	NC_000014.9:g.94309840A>C	ExAC,gnomAD
rs1345831949	p.Val263Ile	missense variant	-	NC_000014.9:g.94309833C>T	TOPMed,gnomAD
rs781312328	p.Ile266Thr	missense variant	-	NC_000014.9:g.94309823A>G	ExAC,TOPMed,gnomAD
rs781312328	p.Ile266Asn	missense variant	-	NC_000014.9:g.94309823A>T	ExAC,TOPMed,gnomAD
rs201880274	p.Pro268Leu	missense variant	-	NC_000014.9:g.94309817G>A	ExAC,TOPMed,gnomAD
rs201880274	p.Pro268Gln	missense variant	-	NC_000014.9:g.94309817G>T	ExAC,TOPMed,gnomAD
rs1401005982	p.Asp269Asn	missense variant	-	NC_000014.9:g.94309815C>T	TOPMed,gnomAD
rs758825244	p.Asp269Gly	missense variant	-	NC_000014.9:g.94309814T>C	ExAC,gnomAD
rs1023481849	p.Lys270Glu	missense variant	-	NC_000014.9:g.94309812T>C	TOPMed
rs752941156	p.Lys272Asn	missense variant	-	NC_000014.9:g.94309804C>A	ExAC,TOPMed,gnomAD
rs1085307658	p.Met273Ile	missense variant	-	NC_000014.9:g.94309801C>T	gnomAD
RCV000489584	p.Met273Ile	missense variant	-	NC_000014.9:g.94309801C>T	ClinVar
COSM6076469	p.Val276Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94309794C>A	NCI-TCGA Cosmic
rs1436945752	p.Val276Ile	missense variant	-	NC_000014.9:g.94309794C>T	TOPMed
rs540894794	p.Ile277Thr	missense variant	-	NC_000014.9:g.94309790A>G	1000Genomes,TOPMed,gnomAD
rs201288144	p.Ile277Phe	missense variant	-	NC_000014.9:g.94309791T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs374119759	p.Ala278Thr	missense variant	-	NC_000014.9:g.94309788C>T	ESP,TOPMed,gnomAD
rs374119759	p.Ala278Pro	missense variant	-	NC_000014.9:g.94309788C>G	ESP,TOPMed,gnomAD
rs267604111	p.Arg282Gln	missense variant	-	NC_000014.9:g.94309775C>T	ExAC,TOPMed,gnomAD
rs267604111	p.Arg282Leu	missense variant	-	NC_000014.9:g.94309775C>A	ExAC,TOPMed,gnomAD
rs1052595763	p.Arg282Trp	missense variant	-	NC_000014.9:g.94309776G>A	TOPMed,gnomAD
rs201033879	p.Asp283Glu	missense variant	-	NC_000014.9:g.94309771G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp283AlaPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.94309772_94309773insATGCTGGTTGGCATTTTCTGACCCTTCTG	NCI-TCGA
rs772942603	p.Asp283His	missense variant	-	NC_000014.9:g.94309773C>G	ExAC,TOPMed,gnomAD
rs772942603	p.Asp283Asn	missense variant	-	NC_000014.9:g.94309773C>T	ExAC,TOPMed,gnomAD
rs747987928	p.Thr284Met	missense variant	-	NC_000014.9:g.94309769G>A	ExAC,TOPMed,gnomAD
rs768493502	p.Arg287Ser	missense variant	-	NC_000014.9:g.94309759C>A	ExAC,gnomAD
rs1355901960	p.Trp288Ter	stop gained	-	NC_000014.9:g.94309756C>T	TOPMed,gnomAD
rs202078426	p.Ala290Thr	missense variant	-	NC_000014.9:g.94309752C>T	ExAC,TOPMed,gnomAD
rs747049636	p.Gly291Ser	missense variant	-	NC_000014.9:g.94309749C>T	ExAC,gnomAD
rs1405943011	p.Ser294Gly	missense variant	-	NC_000014.9:g.94309740T>C	TOPMed
NCI-TCGA novel	p.Ser295Arg	missense variant	-	NC_000014.9:g.94306218G>C	NCI-TCGA
rs1488818353	p.Val297Ala	missense variant	-	NC_000014.9:g.94306213A>G	gnomAD
rs1211981205	p.Asp298Val	missense variant	-	NC_000014.9:g.94306210T>A	gnomAD
rs751466880	p.Leu299Val	missense variant	-	NC_000014.9:g.94306208G>C	gnomAD
rs780718516	p.Tyr300His	missense variant	-	NC_000014.9:g.94306205A>G	ExAC,gnomAD
rs374191911	p.Ile301Val	missense variant	-	NC_000014.9:g.94306202T>C	ESP,ExAC,TOPMed,gnomAD
rs374191911	p.Ile301Phe	missense variant	-	NC_000014.9:g.94306202T>A	ESP,ExAC,TOPMed,gnomAD
rs546678080	p.Pro302Arg	missense variant	-	NC_000014.9:g.94306198G>C	1000Genomes,ExAC,gnomAD
rs1295435697	p.Lys303Thr	missense variant	-	NC_000014.9:g.94306195T>G	gnomAD
rs1295435697	p.Lys303Arg	missense variant	-	NC_000014.9:g.94306195T>C	gnomAD
rs1264863443	p.Val304Phe	missense variant	-	NC_000014.9:g.94306193C>A	TOPMed
NCI-TCGA novel	p.Thr305Ala	missense variant	-	NC_000014.9:g.94306190T>C	NCI-TCGA
rs958767649	p.Ile306Met	missense variant	-	NC_000014.9:g.94306185G>C	gnomAD
rs751190381	p.Ser307Phe	missense variant	-	NC_000014.9:g.94306183G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly308Val	missense variant	-	NC_000014.9:g.94306180C>A	NCI-TCGA
rs1393277177	p.Asp311Asn	missense variant	-	NC_000014.9:g.94306172C>T	gnomAD
rs925933723	p.Asp311Glu	missense variant	-	NC_000014.9:g.94306170G>T	TOPMed,gnomAD
rs769567090	p.Gly313Arg	missense variant	-	NC_000014.9:g.94306166C>T	ExAC,TOPMed,gnomAD
COSM3499291	p.Gly313Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94306165C>T	NCI-TCGA Cosmic
COSM3499289	p.Asp314Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94306163C>T	NCI-TCGA Cosmic
COSM4919028	p.Asp314Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94306163C>A	NCI-TCGA Cosmic
rs1472278644	p.Asp314Val	missense variant	-	NC_000014.9:g.94306162T>A	TOPMed
rs759461752	p.Val315Leu	missense variant	-	NC_000014.9:g.94306160C>G	ExAC,gnomAD
rs1379812047	p.Glu318Gln	missense variant	-	NC_000014.9:g.94306151C>G	TOPMed
rs772097363	p.Met319Ile	missense variant	-	NC_000014.9:g.94306146C>T	ExAC,TOPMed,gnomAD
rs904139690	p.Ile321Val	missense variant	-	NC_000014.9:g.94306142T>C	TOPMed,gnomAD
rs779312270	p.Ala322Ser	missense variant	-	NC_000014.9:g.94306139C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala322Thr	missense variant	-	NC_000014.9:g.94306139C>T	NCI-TCGA
rs749505279	p.Asp323Gly	missense variant	-	NC_000014.9:g.94306135T>C	ExAC,gnomAD
rs200758120	p.Asp323Tyr	missense variant	-	NC_000014.9:g.94306136C>A	ESP,ExAC,TOPMed,gnomAD
rs1476045999	p.Leu324Phe	missense variant	-	NC_000014.9:g.94306131C>A	gnomAD
NCI-TCGA novel	p.Thr326Asn	missense variant	-	NC_000014.9:g.94306126G>T	NCI-TCGA
rs780628728	p.Gln328Arg	missense variant	-	NC_000014.9:g.94306120T>C	ExAC,gnomAD
rs1305083030	p.Ala329Glu	missense variant	-	NC_000014.9:g.94306117G>T	TOPMed,gnomAD
rs1305083030	p.Ala329Val	missense variant	-	NC_000014.9:g.94306117G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Asn330His	missense variant	-	NC_000014.9:g.94306115T>G	NCI-TCGA
rs756512109	p.Asn330Ser	missense variant	-	NC_000014.9:g.94306114T>C	ExAC,TOPMed,gnomAD
rs746411110	p.Phe331Leu	missense variant	-	NC_000014.9:g.94306110G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser332Ala	missense variant	-	NC_000014.9:g.94306109A>C	NCI-TCGA
rs751013186	p.Arg333His	missense variant	-	NC_000014.9:g.94306105C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg333GlnPheSerTerUnk	stop gained	-	NC_000014.9:g.94306105_94306106insCAATTAGACATTTACCACTTTTCCT	NCI-TCGA
rs200104515	p.Arg333Cys	missense variant	-	NC_000014.9:g.94306106G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs751013186	p.Arg333Pro	missense variant	-	NC_000014.9:g.94306105C>G	ExAC,TOPMed,gnomAD
rs200104515	p.Arg333Gly	missense variant	-	NC_000014.9:g.94306106G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs763752224	p.Ile334Val	missense variant	-	NC_000014.9:g.94306103T>C	ExAC,gnomAD
COSM1371783	p.Thr335Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94306100T>C	NCI-TCGA Cosmic
rs1207589710	p.Thr335Ser	missense variant	-	NC_000014.9:g.94306099G>C	TOPMed
NCI-TCGA novel	p.Gln336Lys	missense variant	-	NC_000014.9:g.94306097G>T	NCI-TCGA
COSM6076471	p.Asp337His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94306094C>G	NCI-TCGA Cosmic
rs752343239	p.Asp337Gly	missense variant	-	NC_000014.9:g.94306093T>C	ExAC,TOPMed,gnomAD
rs752343239	p.Asp337Val	missense variant	-	NC_000014.9:g.94306093T>A	ExAC,TOPMed,gnomAD
rs776459446	p.Ala338Asp	missense variant	-	NC_000014.9:g.94306090G>T	ExAC,gnomAD
rs759356978	p.Ala338Thr	missense variant	-	NC_000014.9:g.94306091C>T	ExAC,gnomAD
COSM4862203	p.Ser342Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.94306078G>T	NCI-TCGA Cosmic
rs1184169975	p.Ser343Ter	stop gained	-	NC_000014.9:g.94306075G>T	gnomAD
rs761805650	p.Ser343Pro	missense variant	-	NC_000014.9:g.94306076A>G	ExAC,gnomAD
rs537163230	p.Val346Ala	missense variant	-	NC_000014.9:g.94304599A>G	1000Genomes,ExAC,gnomAD
COSM1707812	p.His347Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94304597G>A	NCI-TCGA Cosmic
rs747555371	p.His347Arg	missense variant	-	NC_000014.9:g.94304596T>C	ExAC,gnomAD
rs868454727	p.Lys348Glu	missense variant	-	NC_000014.9:g.94304594T>C	TOPMed
rs1355733476	p.Lys348Thr	missense variant	-	NC_000014.9:g.94304593T>G	gnomAD
rs1336593427	p.Ala349Asp	missense variant	-	NC_000014.9:g.94304590G>T	gnomAD
rs1291381602	p.Val350Leu	missense variant	-	NC_000014.9:g.94304588C>A	gnomAD
rs771596388	p.Leu353Phe	missense variant	-	NC_000014.9:g.94304579G>A	ExAC,gnomAD
rs747620607	p.Asn354His	missense variant	-	NC_000014.9:g.94304576T>G	ExAC,gnomAD
rs147297630	p.Asn354Ser	missense variant	-	NC_000014.9:g.94304575T>C	ESP,ExAC,TOPMed,gnomAD
rs539282396	p.Glu355Lys	missense variant	-	NC_000014.9:g.94304573C>T	1000Genomes
rs758178505	p.Glu356Ala	missense variant	-	NC_000014.9:g.94304569T>G	ExAC,TOPMed,gnomAD
COSM3499287	p.Gly357Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94304566C>T	NCI-TCGA Cosmic
rs571811461	p.Gly357Cys	missense variant	-	NC_000014.9:g.94304567C>A	1000Genomes
rs1167266764	p.Val358Met	missense variant	-	NC_000014.9:g.94304564C>T	gnomAD
rs779935948	p.Asp359Asn	missense variant	-	NC_000014.9:g.94304561C>T	ExAC
rs138483168	p.Thr360Ala	missense variant	-	NC_000014.9:g.94304558T>C	ESP,ExAC,TOPMed,gnomAD
rs138483168	p.Thr360Pro	missense variant	-	NC_000014.9:g.94304558T>G	ESP,ExAC,TOPMed,gnomAD
rs767521744	p.Ala361Ser	missense variant	-	NC_000014.9:g.94304555C>A	ExAC,TOPMed,gnomAD
rs747939841	p.Thr364Ile	missense variant	-	NC_000014.9:g.94304545G>A	gnomAD
rs747939841	p.Thr364Asn	missense variant	-	NC_000014.9:g.94304545G>T	gnomAD
rs538661274	p.Gly365Ala	missense variant	-	NC_000014.9:g.94304542C>G	gnomAD
rs1003696988	p.Val366Leu	missense variant	-	NC_000014.9:g.94304540C>G	TOPMed,gnomAD
rs1003696988	p.Val366Phe	missense variant	-	NC_000014.9:g.94304540C>A	TOPMed,gnomAD
rs763129780	p.Thr367Asn	missense variant	-	NC_000014.9:g.94304536G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu368Ter	frameshift	-	NC_000014.9:g.94304534G>-	NCI-TCGA
rs1271110992	p.Asn369Ile	missense variant	-	NC_000014.9:g.94304530T>A	gnomAD
rs201893200	p.Thr371Met	missense variant	-	NC_000014.9:g.94304524G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs765216098	p.Thr371Ala	missense variant	-	NC_000014.9:g.94304525T>C	ExAC,TOPMed,gnomAD
rs201893200	p.Thr371Lys	missense variant	-	NC_000014.9:g.94304524G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs771376602	p.Lys373Thr	missense variant	-	NC_000014.9:g.94304518T>G	ExAC,gnomAD
rs528742561	p.Lys373Asn	missense variant	-	NC_000014.9:g.94304517C>A	1000Genomes,ExAC,gnomAD
rs1325858103	p.Lys373Glu	missense variant	-	NC_000014.9:g.94304519T>C	TOPMed,gnomAD
rs772504845	p.Pro374Arg	missense variant	-	NC_000014.9:g.94304515G>C	ExAC,TOPMed,gnomAD
rs772504845	p.Pro374Leu	missense variant	-	NC_000014.9:g.94304515G>A	ExAC,TOPMed,gnomAD
rs1392545062	p.Pro374Ala	missense variant	-	NC_000014.9:g.94304516G>C	gnomAD
rs772504845	p.Pro374His	missense variant	-	NC_000014.9:g.94304515G>T	ExAC,TOPMed,gnomAD
rs1252111743	p.Ile376Leu	missense variant	-	NC_000014.9:g.94304510T>G	TOPMed
rs149012523	p.Arg378His	missense variant	-	NC_000014.9:g.94304503C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1166623585	p.Arg378Ser	missense variant	-	NC_000014.9:g.94304504G>T	gnomAD
rs1166623585	p.Arg378Cys	missense variant	-	NC_000014.9:g.94304504G>A	gnomAD
rs749014347	p.Phe379Cys	missense variant	-	NC_000014.9:g.94304500A>C	ExAC,gnomAD
rs1193709022	p.Phe379Leu	missense variant	-	NC_000014.9:g.94304499G>C	gnomAD
rs779518994	p.Asn380His	missense variant	-	NC_000014.9:g.94304498T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln381Lys	missense variant	-	NC_000014.9:g.94304495G>T	NCI-TCGA
rs756004082	p.Pro382Thr	missense variant	-	NC_000014.9:g.94304492G>T	ExAC,gnomAD
rs1410538357	p.Pro382Leu	missense variant	-	NC_000014.9:g.94304491G>A	TOPMed
rs781290846	p.Ile385Val	missense variant	-	NC_000014.9:g.94304483T>C	ExAC,gnomAD
rs757320230	p.Met386Val	missense variant	-	NC_000014.9:g.94304480T>C	ExAC
rs954879793	p.Met386Ile	missense variant	-	NC_000014.9:g.94304478C>A	TOPMed
rs1353331345	p.Met386Thr	missense variant	-	NC_000014.9:g.94304479A>G	TOPMed
RCV000018496	p.Asp389Asn	missense variant	Corticosteroid-binding globulin deficiency	NC_000014.9:g.94304471C>T	ClinVar
rs28929488	p.Asp389Asn	missense variant	Corticosteroid-binding globulin deficiency (CBG deficiency)	NC_000014.9:g.94304471C>T	UniProt,dbSNP
VAR_016223	p.Asp389Asn	missense variant	Corticosteroid-binding globulin deficiency (CBG deficiency)	NC_000014.9:g.94304471C>T	UniProt
rs28929488	p.Asp389Asn	missense variant	-	NC_000014.9:g.94304471C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe391SerPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.94304466G>-	NCI-TCGA
rs765400237	p.Thr392Asn	missense variant	-	NC_000014.9:g.94304461G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr392Ile	missense variant	-	NC_000014.9:g.94304461G>A	NCI-TCGA
rs1362215393	p.Trp393Arg	missense variant	-	NC_000014.9:g.94304459A>G	TOPMed
rs759512800	p.Ser394Asn	missense variant	-	NC_000014.9:g.94304455C>T	ExAC,TOPMed,gnomAD
rs1270243704	p.Ser394Arg	missense variant	-	NC_000014.9:g.94304454G>T	TOPMed
rs1323470584	p.Leu396Pro	missense variant	-	NC_000014.9:g.94304449A>G	TOPMed
COSM1371777	p.Phe397Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.94304445G>C	NCI-TCGA Cosmic
rs754112917	p.Leu398Arg	missense variant	-	NC_000014.9:g.94304443A>C	ExAC,gnomAD
rs766474893	p.Ala399Val	missense variant	-	NC_000014.9:g.94304440G>A	ExAC,TOPMed,gnomAD
rs766474893	p.Ala399Glu	missense variant	-	NC_000014.9:g.94304440G>T	ExAC,TOPMed,gnomAD
rs1022163339	p.Ala399Pro	missense variant	-	NC_000014.9:g.94304441C>G	TOPMed,gnomAD
rs1022163339	p.Ala399Thr	missense variant	-	NC_000014.9:g.94304441C>T	TOPMed,gnomAD
rs1356585349	p.Arg400Lys	missense variant	-	NC_000014.9:g.94304437C>T	TOPMed,gnomAD
rs772415332	p.Val401Ala	missense variant	-	NC_000014.9:g.94304434A>G	ExAC,TOPMed,gnomAD
rs773510193	p.Val401Phe	missense variant	-	NC_000014.9:g.94304435C>A	ExAC,TOPMed,gnomAD
rs762344771	p.Pro404Leu	missense variant	-	NC_000014.9:g.94304425G>A	ExAC,TOPMed,gnomAD
rs762344771	p.Pro404Gln	missense variant	-	NC_000014.9:g.94304425G>T	ExAC,TOPMed,gnomAD
rs774695483	p.Val405Met	missense variant	-	NC_000014.9:g.94304423C>T	ExAC,gnomAD
rs1314151166	p.ValTer405ValUnk	stop lost	-	NC_000014.9:g.94304422_94304423del	gnomAD
COSM1477871	p.Ter406GluGluUnkThrTerUnkUnk	stop lost	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.94304420A>C	NCI-TCGA Cosmic
rs765267898	p.Ter406LeuUnk	stop lost	-	NC_000014.9:g.94304420dup	ExAC,TOPMed,gnomAD
rs763107074	p.Pro2Gln	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314644G>T	ExAC,TOPMed,gnomAD
rs752853327	p.Leu5Pro	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314635A>G	ExAC
rs1287480013	p.Thr7Ile	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314629G>A	TOPMed
rs1330298936	p.Thr7Pro	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314630T>G	gnomAD
rs139544351	p.Cys8Phe	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314626C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150568135	p.Leu9Phe	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314624G>A	ESP,TOPMed,gnomAD
rs150568135	p.Leu9Ile	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314624G>T	ESP,TOPMed,gnomAD
rs771517988	p.Trp11Ter	stop gained	-	CHR_HSCHR14_7_CTG1:g.94314616C>T	ExAC,gnomAD
rs777245398	p.Trp11Ter	stop gained	-	CHR_HSCHR14_7_CTG1:g.94314617C>T	ExAC,gnomAD
rs1237575015	p.Pro13Leu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314611G>A	gnomAD
rs772782016	p.Pro13Ser	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314612G>A	ExAC,gnomAD
rs142631353	p.Thr14Ile	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314608G>A	ESP,ExAC,TOPMed,gnomAD
rs142631353	p.Thr14Ser	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314608G>C	ESP,ExAC,TOPMed,gnomAD
rs747876567	p.Ser15Gly	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314606T>C	ExAC,TOPMed,gnomAD
rs768544398	p.Ser15Arg	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314604G>T	ExAC,TOPMed,gnomAD
rs748984466	p.Gly16Ser	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314603C>T	ExAC,TOPMed,gnomAD
rs748984466	p.Gly16Cys	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314603C>A	ExAC,TOPMed,gnomAD
rs998572459	p.Leu17His	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314599A>T	TOPMed
rs1288807821	p.Trp18Arg	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314597A>G	gnomAD
rs139446936	p.Val20Ile	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314591C>T	ESP,ExAC,TOPMed,gnomAD
rs371119681	p.Gln21Ter	stop gained	-	CHR_HSCHR14_7_CTG1:g.94314588G>A	ESP,ExAC,TOPMed,gnomAD
rs1300550199	p.Met23Thr	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314581A>G	TOPMed
rs146176684	p.Pro25Ser	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314576G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753007057	p.Ala27Thr	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314570C>T	ExAC,TOPMed,gnomAD
rs1385354738	p.Ala28Val	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314566G>A	gnomAD
rs1301766188	p.Tyr29Ter	stop gained	-	CHR_HSCHR14_7_CTG1:g.94314562A>T	TOPMed
rs1299969579	p.Tyr29Asn	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314564A>T	gnomAD
rs755394835	p.Met32Leu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314555T>G	ExAC,TOPMed,gnomAD
rs776422169	p.Ser33Ile	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314551C>A	TOPMed
rs1379599510	p.Asn34Lys	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314547G>C	TOPMed,gnomAD
rs148218218	p.His36Pro	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314542T>G	ESP,ExAC,TOPMed,gnomAD
rs148218218	p.His36Arg	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314542T>C	ESP,ExAC,TOPMed,gnomAD
rs143058829	p.His36Gln	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314541G>T	ESP,ExAC,TOPMed,gnomAD
rs201703843	p.Arg37Trp	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314540G>A	1000Genomes,TOPMed
rs199612438	p.Arg37Gln	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314539C>T	ExAC,TOPMed,gnomAD
rs767174033	p.Gly38Cys	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314537C>A	ExAC,TOPMed,gnomAD
rs767174033	p.Gly38Ser	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314537C>T	ExAC,TOPMed,gnomAD
rs761204701	p.Gly38Val	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314536C>A	ExAC,TOPMed
rs768150666	p.Leu39Val	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314534G>C	ExAC,gnomAD
rs1432227317	p.Ser41Ala	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314528A>C	TOPMed
rs1488280921	p.Ala42Val	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314524G>A	gnomAD
rs749109208	p.Asn43Lys	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314520G>T	ExAC,gnomAD
rs1293105465	p.Asn43Asp	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314522T>C	gnomAD
rs750000108	p.Val44Ile	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314519C>T	ExAC,TOPMed,gnomAD
rs537835110	p.Val44Ala	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314518A>G	ExAC,TOPMed,gnomAD
rs1429771898	p.Ala47Val	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314509G>A	TOPMed
rs1279922831	p.Tyr51Cys	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314497T>C	gnomAD
rs1397908293	p.His53Pro	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314491T>G	gnomAD
rs1359866404	p.Val55Glu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314485A>T	TOPMed,gnomAD
rs1484736032	p.Ala56Asp	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314482G>T	TOPMed,gnomAD
rs758525045	p.Ser58Cys	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314477T>A	ExAC,gnomAD
rs748129916	p.Lys61Asn	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314466C>A	ExAC,gnomAD
rs1192007952	p.Asn62Ser	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314464T>C	gnomAD
rs1257561313	p.Phe64Cys	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314458A>C	gnomAD
rs1203867726	p.Ile65Val	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314456T>C	TOPMed,gnomAD
rs1203867726	p.Ile65Phe	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314456T>A	TOPMed,gnomAD
rs1477689690	p.Ser66Ala	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314453A>C	gnomAD
rs1003009602	p.Pro67Leu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314449G>A	TOPMed,gnomAD
rs922608302	p.Val68Met	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314447C>T	TOPMed
rs370353870	p.Ile70Asn	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314440A>T	ESP,TOPMed,gnomAD
rs199720892	p.Met72Thr	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314434A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1452840521	p.Met72Val	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314435T>C	gnomAD
rs146744332	p.Ala73Val	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314431G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs751015476	p.Thr85Ile	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314395G>A	ExAC,gnomAD
rs199541890	p.Arg86Leu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314392C>A	ESP,ExAC,TOPMed,gnomAD
rs199541890	p.Arg86Gln	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314392C>T	ESP,ExAC,TOPMed,gnomAD
rs199699199	p.Arg86Trp	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314393G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1402795109	p.Ala87Thr	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314390C>T	TOPMed,gnomAD
rs775123612	p.Leu90Phe	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314381G>A	ExAC,TOPMed,gnomAD
rs775123612	p.Leu90Ile	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314381G>T	ExAC,TOPMed,gnomAD
rs1433974024	p.Gly92Ser	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314375C>T	TOPMed
rs1246633584	p.Leu97Ile	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314360G>T	gnomAD
rs922069031	p.Arg100Lys	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314350C>T	TOPMed
rs922069031	p.Arg100Thr	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314350C>G	TOPMed
rs1196320141	p.Glu102Asp	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314343C>G	gnomAD
rs776573032	p.Glu102Lys	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314345C>T	ExAC,gnomAD
rs770736077	p.Thr103Ser	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314341G>C	ExAC,gnomAD
rs1278995218	p.Glu104Asp	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314337C>A	gnomAD
rs1220722003	p.His106Arg	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314332T>C	gnomAD
rs1012631736	p.Gln107Ter	stop gained	-	CHR_HSCHR14_7_CTG1:g.94314330G>A	TOPMed
rs1219781994	p.Gln107His	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314328C>G	TOPMed
rs1274161889	p.Gly108Val	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314326C>A	gnomAD
rs748264131	p.Phe109Leu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314324A>G	ExAC,gnomAD
rs778802358	p.Gln110Ter	stop gained	-	CHR_HSCHR14_7_CTG1:g.94314321G>A	ExAC,TOPMed,gnomAD
rs776044619	p.His111Gln	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314316G>T	ExAC,TOPMed,gnomAD
rs187253929	p.His111Tyr	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314318G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1245822115	p.Leu112Gln	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314314A>T	TOPMed
rs1426697130	p.His113Arg	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314311T>C	gnomAD
rs756569160	p.Leu115Ile	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314306G>T	ExAC,TOPMed,gnomAD
rs113418909	p.Leu115His	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314305A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1460592467	p.Phe116Leu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314301A>C	gnomAD
rs1160993967	p.Lys118Arg	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314296T>C	TOPMed
rs377478491	p.Asp120His	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314291C>G	ESP,ExAC
rs1159602844	p.Thr121Ser	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314287G>C	TOPMed,gnomAD
rs202107375	p.Glu124Gly	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314278T>C	ExAC,TOPMed,gnomAD
rs763581643	p.Met127Val	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314270T>C	ExAC,gnomAD
rs752400429	p.Met127Ile	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314268C>A	ExAC,TOPMed,gnomAD
rs762497186	p.Met127Thr	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314269A>G	ExAC,gnomAD
rs1212019872	p.Gly128Val	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314266C>A	gnomAD
rs1310172418	p.Ala130Thr	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314261C>T	TOPMed,gnomAD
rs764824086	p.Ala130Val	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314260G>A	ExAC,gnomAD
rs576835982	p.Ser136Arg	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314241G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs760589588	p.Leu139Phe	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314232C>A	ExAC,TOPMed,gnomAD
rs773169450	p.Glu141Lys	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314228C>T	ExAC,TOPMed,gnomAD
rs773169450	p.Glu141Ter	stop gained	-	CHR_HSCHR14_7_CTG1:g.94314228C>A	ExAC,TOPMed,gnomAD
rs768665551	p.Ser142Leu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314224G>A	ExAC,gnomAD
rs749331141	p.Ala145Gly	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314215G>C	ExAC,gnomAD
rs1421995088	p.Ile147Val	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314210T>C	gnomAD
rs1156373008	p.Lys148Asn	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314205C>A	TOPMed,gnomAD
rs760917391	p.Tyr151Cys	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314197T>C	TOPMed,gnomAD
rs1183201844	p.Glu152Lys	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314195C>T	gnomAD
rs374185317	p.Ser153Thr	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314192A>T	ESP,ExAC,TOPMed,gnomAD
rs141500229	p.Ser153Leu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314191G>A	ESP,ExAC,TOPMed,gnomAD
rs1453918017	p.Val155Asp	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314185A>T	TOPMed,gnomAD
rs1489270021	p.Val155Ile	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314186C>T	gnomAD
rs1453918017	p.Val155Ala	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314185A>G	TOPMed,gnomAD
rs757873099	p.Asn159Ser	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314173T>C	ExAC,TOPMed,gnomAD
rs752163522	p.Gln161Ter	stop gained	-	CHR_HSCHR14_7_CTG1:g.94314168G>A	ExAC,gnomAD
rs561845008	p.Trp163Ser	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314161C>G	ExAC,gnomAD
rs561845008	p.Trp163Ter	stop gained	-	CHR_HSCHR14_7_CTG1:g.94314161C>T	ExAC,gnomAD
rs759133022	p.Trp163Ter	stop gained	-	CHR_HSCHR14_7_CTG1:g.94314160C>T	ExAC,gnomAD
rs376846419	p.Trp163Arg	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314162A>G	ESP
rs766126799	p.Ser167Asn	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314149C>T	ExAC,gnomAD
rs1359225041	p.Arg168Ter	stop gained	-	CHR_HSCHR14_7_CTG1:g.94314147T>A	gnomAD
rs760494725	p.Gln169His	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314142C>G	ExAC,gnomAD
rs773046265	p.Ile170Phe	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314141T>A	ExAC,gnomAD
rs1052759090	p.Asn171Lys	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314136G>T	gnomAD
rs777877328	p.Tyr173Asn	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314132A>T	ExAC
rs775649161	p.Lys175Asn	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314124C>G	ExAC,gnomAD
rs1382498213	p.Gln179Glu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314114G>C	TOPMed,gnomAD
rs769978145	p.Gly180Glu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314110C>T	ExAC,TOPMed,gnomAD
rs1215754630	p.Lys181Glu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314108T>C	gnomAD
rs746155857	p.Ile182Thr	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314104A>G	ExAC,TOPMed,gnomAD
rs182173676	p.Asp184Asn	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314099C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs182173676	p.Asp184Tyr	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314099C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1321415815	p.Asp190His	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314081C>G	gnomAD
rs1220896385	p.Ser191Thr	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314077C>G	TOPMed,gnomAD
rs1220896385	p.Ser191Asn	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314077C>T	TOPMed,gnomAD
rs1338852515	p.Pro192Ser	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314075G>A	gnomAD
rs747354796	p.Pro192Gln	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314074G>T	ExAC,gnomAD
rs747671539	p.Val196Ile	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314063C>T	ExAC,TOPMed,gnomAD
rs754482221	p.Tyr200Cys	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314050T>C	ExAC,TOPMed,gnomAD
rs367840035	p.Ile201Val	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314048T>C	ESP,gnomAD
rs766006279	p.Phe203Leu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94314042A>G	ExAC
rs750663821	p.Thr206Lys	missense variant	-	CHR_HSCHR14_7_CTG1:g.94310003G>T	ExAC,TOPMed,gnomAD
rs1265997694	p.Trp207Cys	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309999C>A	TOPMed,gnomAD
rs1037407899	p.Trp207Arg	missense variant	-	CHR_HSCHR14_7_CTG1:g.94310001A>G	TOPMed
rs1192077233	p.Thr208Ile	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309997G>A	gnomAD
rs148747799	p.Gln209Pro	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309994T>G	ESP,TOPMed,gnomAD
rs142314764	p.Gln209Glu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309995G>C	ESP,ExAC,TOPMed,gnomAD
rs1283017247	p.Pro210Ser	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309992G>A	gnomAD
rs762168966	p.Pro210Arg	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309991G>C	ExAC,TOPMed,gnomAD
rs774641088	p.Leu213Arg	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309982A>C	ExAC,TOPMed,gnomAD
rs144992509	p.Arg217Thr	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309970C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775826357	p.Glu219Gly	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309964T>C	ExAC,gnomAD
rs1354259172	p.Asn220Asp	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309962T>C	TOPMed
rs769392840	p.Asn220Ile	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309961T>A	ExAC,gnomAD
rs745324496	p.Val223Ala	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309952A>G	ExAC,TOPMed,gnomAD
rs781027025	p.Asp224Asn	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309950C>T	ExAC
rs370762935	p.Glu225Lys	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309947C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1388905843	p.Val228Gly	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309937A>C	gnomAD
rs1313723185	p.Lys230Arg	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309931T>C	TOPMed
rs1164415645	p.Val231Met	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309929C>T	gnomAD
rs1426136858	p.Pro232His	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309925G>T	gnomAD
rs746818305	p.Pro232Ser	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309926G>A	ExAC,TOPMed,gnomAD
rs752721162	p.Met233Ile	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309921C>T	ExAC
rs758124674	p.Met233Thr	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309922A>G	ExAC,gnomAD
rs777769941	p.Met233Val	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309923T>C	ExAC,gnomAD
rs758124674	p.Met233Arg	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309922A>C	ExAC,gnomAD
rs1482984628	p.Met234Ile	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309918C>G	TOPMed
rs756246894	p.Ser237Trp	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309910G>C	ExAC,TOPMed,gnomAD
rs756246894	p.Ser237Leu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309910G>A	ExAC,TOPMed,gnomAD
rs767739597	p.Ser238Asn	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309907C>T	ExAC,TOPMed,gnomAD
rs757533020	p.Thr239Ala	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309905T>C	ExAC,TOPMed,gnomAD
rs764555427	p.Thr239Ile	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309904G>A	ExAC,TOPMed,gnomAD
rs764555427	p.Thr239Ser	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309904G>C	ExAC,TOPMed,gnomAD
rs763202082	p.Ser241Asn	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309898C>T	ExAC,gnomAD
rs1212582054	p.Ser241Gly	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309899T>C	TOPMed,gnomAD
rs1368821406	p.Leu243Pro	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309892A>G	gnomAD
rs776085185	p.Leu243Phe	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309893G>A	ExAC,gnomAD
rs1325477013	p.His244Arg	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309889T>C	gnomAD
rs765624279	p.Asp245Glu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309885G>C	ExAC,TOPMed,gnomAD
rs2228541	p.Ser246Ala	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309884A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1329784214	p.Ser246Leu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309883G>A	TOPMed,gnomAD
rs2228541	p.Ser246Thr	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309884A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1035749123	p.Glu247Gly	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309880T>C	TOPMed,gnomAD
rs751337215	p.del247TerValSerGluTrpMetGlyGluTerValAsnGlyGluTer	stop gained	-	CHR_HSCHR14_7_CTG1:g.94309881_94309882insTCATTCTCCATTCACTCACTCACCCATCCATTCACTCACTCA	ExAC
rs746726203	p.Pro249Thr	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309875G>T	ExAC,gnomAD
rs1392659979	p.Cys250Gly	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309872A>C	TOPMed,gnomAD
rs1192452192	p.Leu252Val	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309866G>C	gnomAD
rs1192452192	p.Leu252Met	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309866G>T	gnomAD
rs751154079	p.Tyr257Cys	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309850T>C	ExAC,gnomAD
rs1002170347	p.Tyr257His	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309851A>G	TOPMed
rs778913169	p.Val258Met	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309848C>T	ExAC,TOPMed,gnomAD
rs778913169	p.Val258Leu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309848C>G	ExAC,TOPMed,gnomAD
rs754814260	p.Gly259Val	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309844C>A	ExAC,gnomAD
rs1458251726	p.Gly259Ser	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309845C>T	TOPMed
rs749209941	p.Asn260Lys	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309840A>C	ExAC,gnomAD
rs1345831949	p.Val263Ile	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309833C>T	TOPMed,gnomAD
rs781312328	p.Ile266Asn	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309823A>T	ExAC,TOPMed,gnomAD
rs781312328	p.Ile266Thr	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309823A>G	ExAC,TOPMed,gnomAD
rs201880274	p.Pro268Gln	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309817G>T	ExAC,TOPMed,gnomAD
rs201880274	p.Pro268Leu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309817G>A	ExAC,TOPMed,gnomAD
rs758825244	p.Asp269Gly	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309814T>C	ExAC,gnomAD
rs1401005982	p.Asp269Asn	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309815C>T	TOPMed,gnomAD
rs1023481849	p.Lys270Glu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309812T>C	TOPMed
rs752941156	p.Lys272Asn	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309804C>A	ExAC,TOPMed,gnomAD
rs1085307658	p.Met273Ile	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309801C>T	gnomAD
rs1436945752	p.Val276Ile	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309794C>T	TOPMed
rs201288144	p.Ile277Phe	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309791T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs540894794	p.Ile277Thr	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309790A>G	1000Genomes,TOPMed,gnomAD
rs374119759	p.Ala278Thr	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309788C>T	ESP,TOPMed,gnomAD
rs374119759	p.Ala278Pro	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309788C>G	ESP,TOPMed,gnomAD
rs1052595763	p.Arg282Trp	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309776G>A	TOPMed,gnomAD
rs267604111	p.Arg282Leu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309775C>A	ExAC,TOPMed,gnomAD
rs267604111	p.Arg282Gln	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309775C>T	ExAC,TOPMed,gnomAD
rs772942603	p.Asp283His	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309773C>G	ExAC,TOPMed,gnomAD
rs772942603	p.Asp283Asn	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309773C>T	ExAC,TOPMed,gnomAD
rs201033879	p.Asp283Glu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309771G>C	ExAC,TOPMed,gnomAD
rs747987928	p.Thr284Met	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309769G>A	ExAC,TOPMed,gnomAD
rs768493502	p.Arg287Ser	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309759C>A	ExAC,gnomAD
rs1355901960	p.Trp288Ter	stop gained	-	CHR_HSCHR14_7_CTG1:g.94309756C>T	TOPMed,gnomAD
rs202078426	p.Ala290Thr	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309752C>T	ExAC,TOPMed,gnomAD
rs747049636	p.Gly291Ser	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309749C>T	ExAC,gnomAD
rs1405943011	p.Ser294Gly	missense variant	-	CHR_HSCHR14_7_CTG1:g.94309740T>C	TOPMed
rs1488818353	p.Val297Ala	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306213A>G	gnomAD
rs1211981205	p.Asp298Val	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306210T>A	gnomAD
rs751466880	p.Leu299Val	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306208G>C	gnomAD
rs780718516	p.Tyr300His	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306205A>G	ExAC,gnomAD
rs374191911	p.Ile301Phe	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306202T>A	ESP,ExAC,TOPMed,gnomAD
rs374191911	p.Ile301Val	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306202T>C	ESP,ExAC,TOPMed,gnomAD
rs546678080	p.Pro302Arg	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306198G>C	1000Genomes,ExAC,gnomAD
rs1295435697	p.Lys303Arg	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306195T>C	gnomAD
rs1295435697	p.Lys303Thr	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306195T>G	gnomAD
rs1264863443	p.Val304Phe	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306193C>A	TOPMed
rs958767649	p.Ile306Met	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306185G>C	gnomAD
rs751190381	p.Ser307Phe	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306183G>A	ExAC,gnomAD
rs1393277177	p.Asp311Asn	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306172C>T	gnomAD
rs925933723	p.Asp311Glu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306170G>T	TOPMed,gnomAD
rs769567090	p.Gly313Arg	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306166C>T	ExAC,TOPMed,gnomAD
rs1472278644	p.Asp314Val	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306162T>A	TOPMed
rs759461752	p.Val315Leu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306160C>G	ExAC,gnomAD
rs1379812047	p.Glu318Gln	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306151C>G	TOPMed
rs772097363	p.Met319Ile	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306146C>T	ExAC,TOPMed,gnomAD
rs904139690	p.Ile321Val	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306142T>C	TOPMed,gnomAD
rs779312270	p.Ala322Ser	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306139C>A	ExAC,gnomAD
rs200758120	p.Asp323Tyr	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306136C>A	ESP,ExAC,TOPMed,gnomAD
rs749505279	p.Asp323Gly	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306135T>C	ExAC,gnomAD
rs1476045999	p.Leu324Phe	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306131C>A	gnomAD
rs780628728	p.Gln328Arg	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306120T>C	ExAC,gnomAD
rs1305083030	p.Ala329Val	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306117G>A	TOPMed,gnomAD
rs1305083030	p.Ala329Glu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306117G>T	TOPMed,gnomAD
rs756512109	p.Asn330Ser	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306114T>C	ExAC,TOPMed,gnomAD
rs746411110	p.Phe331Leu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306110G>C	ExAC,TOPMed,gnomAD
rs200104515	p.Arg333Gly	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306106G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs751013186	p.Arg333His	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306105C>T	ExAC,TOPMed,gnomAD
rs200104515	p.Arg333Cys	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306106G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs751013186	p.Arg333Pro	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306105C>G	ExAC,TOPMed,gnomAD
rs763752224	p.Ile334Val	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306103T>C	ExAC,gnomAD
rs1207589710	p.Thr335Ser	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306099G>C	TOPMed
rs752343239	p.Asp337Val	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306093T>A	ExAC,TOPMed,gnomAD
rs752343239	p.Asp337Gly	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306093T>C	ExAC,TOPMed,gnomAD
rs776459446	p.Ala338Asp	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306090G>T	ExAC,gnomAD
rs759356978	p.Ala338Thr	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306091C>T	ExAC,gnomAD
rs761805650	p.Ser343Pro	missense variant	-	CHR_HSCHR14_7_CTG1:g.94306076A>G	ExAC,gnomAD
rs1184169975	p.Ser343Ter	stop gained	-	CHR_HSCHR14_7_CTG1:g.94306075G>T	gnomAD
rs537163230	p.Val346Ala	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304599A>G	1000Genomes,ExAC,gnomAD
rs747555371	p.His347Arg	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304596T>C	ExAC,gnomAD
rs1355733476	p.Lys348Thr	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304593T>G	gnomAD
rs868454727	p.Lys348Glu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304594T>C	TOPMed
rs1336593427	p.Ala349Asp	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304590G>T	gnomAD
rs1291381602	p.Val350Leu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304588C>A	gnomAD
rs771596388	p.Leu353Phe	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304579G>A	ExAC,gnomAD
rs147297630	p.Asn354Ser	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304575T>C	ESP,ExAC,TOPMed,gnomAD
rs747620607	p.Asn354His	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304576T>G	ExAC,gnomAD
rs539282396	p.Glu355Lys	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304573C>T	1000Genomes
rs758178505	p.Glu356Ala	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304569T>G	ExAC,TOPMed,gnomAD
rs571811461	p.Gly357Cys	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304567C>A	1000Genomes
rs1167266764	p.Val358Met	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304564C>T	gnomAD
rs779935948	p.Asp359Asn	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304561C>T	ExAC
rs138483168	p.Thr360Pro	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304558T>G	ESP,ExAC,TOPMed,gnomAD
rs138483168	p.Thr360Ala	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304558T>C	ESP,ExAC,TOPMed,gnomAD
rs767521744	p.Ala361Ser	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304555C>A	ExAC,TOPMed,gnomAD
rs747939841	p.Thr364Asn	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304545G>T	gnomAD
rs747939841	p.Thr364Ile	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304545G>A	gnomAD
rs538661274	p.Gly365Ala	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304542C>G	gnomAD
rs1003696988	p.Val366Phe	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304540C>A	TOPMed,gnomAD
rs1003696988	p.Val366Leu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304540C>G	TOPMed,gnomAD
rs763129780	p.Thr367Asn	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304536G>T	ExAC,TOPMed,gnomAD
rs1271110992	p.Asn369Ile	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304530T>A	gnomAD
rs201893200	p.Thr371Met	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304524G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201893200	p.Thr371Lys	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304524G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs765216098	p.Thr371Ala	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304525T>C	ExAC,TOPMed,gnomAD
rs771376602	p.Lys373Thr	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304518T>G	ExAC,gnomAD
rs1325858103	p.Lys373Glu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304519T>C	TOPMed,gnomAD
rs528742561	p.Lys373Asn	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304517C>A	1000Genomes,ExAC,gnomAD
rs772504845	p.Pro374His	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304515G>T	ExAC,TOPMed,gnomAD
rs1392545062	p.Pro374Ala	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304516G>C	gnomAD
rs772504845	p.Pro374Leu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304515G>A	ExAC,TOPMed,gnomAD
rs772504845	p.Pro374Arg	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304515G>C	ExAC,TOPMed,gnomAD
rs1252111743	p.Ile376Leu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304510T>G	TOPMed
rs1166623585	p.Arg378Ser	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304504G>T	gnomAD
rs1166623585	p.Arg378Cys	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304504G>A	gnomAD
rs149012523	p.Arg378His	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304503C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749014347	p.Phe379Cys	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304500A>C	ExAC,gnomAD
rs1193709022	p.Phe379Leu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304499G>C	gnomAD
rs779518994	p.Asn380His	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304498T>G	ExAC,TOPMed,gnomAD
rs1410538357	p.Pro382Leu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304491G>A	TOPMed
rs756004082	p.Pro382Thr	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304492G>T	ExAC,gnomAD
rs781290846	p.Ile385Val	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304483T>C	ExAC,gnomAD
rs954879793	p.Met386Ile	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304478C>A	TOPMed
rs757320230	p.Met386Val	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304480T>C	ExAC
rs1353331345	p.Met386Thr	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304479A>G	TOPMed
rs28929488	p.Asp389Asn	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304471C>T	ESP,ExAC,TOPMed,gnomAD
rs765400237	p.Thr392Asn	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304461G>T	ExAC,TOPMed,gnomAD
rs1362215393	p.Trp393Arg	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304459A>G	TOPMed
rs759512800	p.Ser394Asn	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304455C>T	ExAC,TOPMed,gnomAD
rs1270243704	p.Ser394Arg	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304454G>T	TOPMed
rs1323470584	p.Leu396Pro	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304449A>G	TOPMed
rs754112917	p.Leu398Arg	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304443A>C	ExAC,gnomAD
rs766474893	p.Ala399Val	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304440G>A	ExAC,TOPMed,gnomAD
rs1022163339	p.Ala399Thr	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304441C>T	TOPMed,gnomAD
rs1022163339	p.Ala399Pro	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304441C>G	TOPMed,gnomAD
rs766474893	p.Ala399Glu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304440G>T	ExAC,TOPMed,gnomAD
rs1356585349	p.Arg400Lys	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304437C>T	TOPMed,gnomAD
rs772415332	p.Val401Ala	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304434A>G	ExAC,TOPMed,gnomAD
rs773510193	p.Val401Phe	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304435C>A	ExAC,TOPMed,gnomAD
rs762344771	p.Pro404Leu	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304425G>A	ExAC,TOPMed,gnomAD
rs762344771	p.Pro404Gln	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304425G>T	ExAC,TOPMed,gnomAD
rs1314151166	p.ValTer405ValUnk	stop lost	-	CHR_HSCHR14_7_CTG1:g.94304422_94304423del	gnomAD
rs774695483	p.Val405Met	missense variant	-	CHR_HSCHR14_7_CTG1:g.94304423C>T	ExAC,gnomAD
rs765267898	p.Ter406LeuUnk	stop lost	-	CHR_HSCHR14_7_CTG1:g.94304420dup	ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002793	Anaplasia	disease	BEFREE
C0011570	Mental Depression	disease	PSYGENET
C0011581	Depressive disorder	disease	PSYGENET
C0015672	Fatigue	phenotype	BEFREE;LHGDN
C0015674	Chronic Fatigue Syndrome	disease	BEFREE;LHGDN
C0015695	Fatty Liver	disease	CTD_human
C0018939	Hematological Disease	group	BEFREE
C0019193	Hepatitis, Toxic	disease	CTD_human
C0020459	Hyperinsulinism	disease	BEFREE
C0020538	Hypertensive disease	group	BEFREE;HPO
C0020550	Hyperthyroidism	disease	BEFREE
C0020649	Hypotension	phenotype	HPO
C0023418	leukemia	disease	BEFREE
C0023448	Lymphoid leukemia	disease	BEFREE
C0023890	Liver Cirrhosis	disease	CTD_human
C0023893	Liver Cirrhosis, Experimental	disease	CTD_human
C0023903	Liver neoplasms	group	BEFREE
C0024305	Lymphoma, Non-Hodgkin	disease	BEFREE
C0028754	Obesity	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0030193	Pain	phenotype	BEFREE
C0150055	Chronic pain	phenotype	BEFREE
C0154207	Other specified disorders of adrenal gland	disease	MGD
C0206624	Hepatoblastoma	disease	BEFREE
C0239946	Fibrosis, Liver	disease	CTD_human
C0242979	Muscle Fatigue	phenotype	HPO
C0271738	Hypocortisolism secondary to another disorder	disease	BEFREE
C0271749	Abnormality of cortisol-binding globulin	disease	MGD
C0342388	Adrenocorticotropic hormone (ACTH) deficiency (disorder)	disease	BEFREE
C0476089	Endometrial Carcinoma	disease	BEFREE
C0497247	Increase in blood pressure	phenotype	HPO
C0524620	Metabolic Syndrome X	disease	BEFREE
C0860207	Drug-Induced Liver Disease	disease	CTD_human
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1262760	Hepatitis, Drug-Induced	disease	CTD_human
C1852529	Corticosteroid-Binding Globulin Deficiency	disease	BEFREE;CLINVAR;CTD_human;MGD;ORPHANET;UNIPROT
C1969107	Corticosteroid-Binding Globulin, Elevated	disease	MGD;UNIPROT
C2239176	Liver carcinoma	disease	BEFREE
C2711227	Steatohepatitis	disease	CTD_human
C3178789	Widespread Chronic Pain	disease	BEFREE
C3495801	Granulomatosis with polyangiitis	disease	BEFREE
C3658290	Drug-Induced Acute Liver Injury	disease	CTD_human
C3714534	dowling-degos disease	disease	BEFREE
C4021768	Abnormality of metabolism/homeostasis	group	HPO
C4025573	Increased muscle fatiguability	phenotype	HPO
C4050407	Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis	disease	BEFREE
C4277682	Chemical and Drug Induced Liver Injury	disease	CTD_human
C4279912	Chemically-Induced Liver Toxicity	disease	CTD_human

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004867	serine-type endopeptidase inhibitor activity	IBA
GO:0005496	steroid binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0008211	glucocorticoid metabolic process	IEA
GO:0010951	negative regulation of endopeptidase activity	IBA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005615	extracellular space	HDA
GO:0005615	extracellular space	IBA
GO:0070062	extracellular exosome	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-194002	Glucocorticoid biosynthesis	TAS
R-HSA-196071	Metabolism of steroid hormones	TAS
R-HSA-556833	Metabolism of lipids	TAS
R-HSA-8957322	Metabolism of steroids	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C049325	1,2-dithiol-3-thione	1,2-dithiol-3-thione results in decreased expression of SERPINA6 mRNA	19162173
C031763	1,3-butadiene	1,3-butadiene results in decreased expression of SERPINA6 mRNA	29038090
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in increased expression of SERPINA6 mRNA	22698814; 27413110; 28903501;
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of SERPINA6 mRNA	28628672
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in decreased expression of SERPINA6 mRNA	25380136; 30723492;
C014211	2,3,7,8-tetrachlorodibenzofuran	2,3,7,8-tetrachlorodibenzofuran affects the expression of SERPINA6 mRNA	20702594
C063002	2,3-dimethoxy-1,4-naphthoquinone	2,3-dimethoxy-1,4-naphthoquinone results in decreased expression of SERPINA6 mRNA	17547211
C104564	2-(4-acetoxyphenyl)-2-chloro-N-methylethylamine	SERPINA6 protein binds to and results in increased stability of 2-(4-acetoxyphenyl)-2-chloro-N-methylethylamine	9037251
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of SERPINA6 mRNA	21346803
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of SERPINA6 mRNA	21346803
C035208	2-amino-4,6-dinitrotoluene	2-amino-4,6-dinitrotoluene affects the expression of SERPINA6 mRNA	21346803
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in decreased expression of SERPINA6 mRNA	25380136
C035207	4-amino-2,6-dinitrotoluene	4-amino-2,6-dinitrotoluene affects the expression of SERPINA6 mRNA	21346803
C029370	4-toluidine	4-toluidine results in decreased expression of SERPINA6 mRNA	27638505
D000082	Acetaminophen	Acetaminophen results in decreased expression of SERPINA6 mRNA	11793227; 29067470;
D000082	Acetaminophen	Acetaminophen affects the expression of SERPINA6 mRNA	17562736
D000082	Acetaminophen	Acetaminophen results in decreased expression of SERPINA6 mRNA	11264010; 29246445;
D000082	Acetaminophen	[Clofibrate co-treated with Acetaminophen] affects the expression of SERPINA6 mRNA	17585979
D000082	Acetaminophen	PANX1 gene mutant form inhibits the reaction [Acetaminophen results in decreased expression of SERPINA6 mRNA]	29246445
D000082	Acetaminophen	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of SERPINA6 mRNA]	17585979
D000082	Acetaminophen	Acetaminophen results in decreased expression of SERPINA6 mRNA	17202762
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of SERPINA6 protein	20106945
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of SERPINA6 mRNA	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of SERPINA6 gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of SERPINA6 mRNA	21641981; 22100608;
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of SERPINA6 mRNA	19770486
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of SERPINA6 mRNA	23630614
D000393	Air Pollutants	Air Pollutants analog results in decreased expression of SERPINA6 mRNA	21757418
D000077237	Arsenic Trioxide	Arsenic Trioxide results in increased expression of SERPINA6 mRNA	20458559
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of SERPINA6 mRNA	20106945; 26238291;
C006780	bisphenol A	bisphenol A affects the expression of SERPINA6 mRNA	30903817
C006780	bisphenol A	bisphenol A results in increased expression of SERPINA6 mRNA	30245210
C006780	bisphenol A	bisphenol A results in decreased expression of SERPINA6 mRNA	25181051
C000611646	bisphenol F	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of SERPINA6 mRNA	28628672
D002065	Buspirone	Buspirone results in decreased expression of SERPINA6 mRNA	24136188
D002104	Cadmium	Cadmium results in decreased expression of SERPINA6 mRNA	17547211
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of SERPINA6 mRNA	17547211
D002110	Caffeine	Caffeine results in decreased expression of SERPINA6 mRNA	11793227
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of SERPINA6 mRNA	27339419
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of SERPINA6 mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of SERPINA6 mRNA]	31150632
D002994	Clofibrate	[Clofibrate co-treated with Acetaminophen] affects the expression of SERPINA6 mRNA	17585979
D002994	Clofibrate	Clofibrate results in decreased expression of SERPINA6 mRNA	17585979
D002994	Clofibrate	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of SERPINA6 mRNA]	17585979
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of SERPINA6 mRNA	24386269
D003078	Colchicine	Colchicine results in decreased transport of SERPINA6 protein	16700006
D003300	Copper	SERPINA6 protein binds to Copper	23896426
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of SERPINA6 mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in decreased expression of SERPINA6 mRNA	20106945; 21632981; 25562108; 27989131;
C093628	cyproconazole	cyproconazole results in increased expression of SERPINA6 mRNA	22334560
D003907	Dexamethasone	[Dexamethasone binds to and results in increased activity of NR3C1 protein] which binds to SERPINA6 promoter	22932886
D003907	Dexamethasone	[Dexamethasone binds to and results in increased activity of NR3C1 protein] which results in decreased expression of SERPINA6 mRNA	22932886
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of SERPINA6 mRNA	28628672
D003907	Dexamethasone	Dexamethasone results in increased expression of SERPINA6 mRNA	10509797
D003633	Dichlorodiphenyl Dichloroethylene	Dichlorodiphenyl Dichloroethylene results in increased expression of SERPINA6 mRNA	29554563
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with Thioacetamide] results in decreased expression of SERPINA6 mRNA	28943392
C015835	dimethyl-4-toluidine	dimethyl-4-toluidine results in decreased expression of SERPINA6 mRNA	27638505
D004128	Dimethylnitrosamine	Dimethylnitrosamine results in decreased expression of SERPINA6 mRNA	17547211
C035144	drospirenone	[Ethinyl Estradiol co-treated with drospirenone] results in increased expression of SERPINA6 protein	11245553
C109476	epoxiconazole	epoxiconazole results in increased expression of SERPINA6 mRNA	22334560
D004958	Estradiol	ESR1 protein promotes the reaction [Estradiol results in increased expression of SERPINA6 protein]	16551731
D004958	Estradiol	Estradiol results in increased expression of SERPINA6 protein	16551731
D000431	Ethanol	Ethanol results in increased expression of SERPINA6 mRNA	19167417
D004997	Ethinyl Estradiol	[Ethinyl Estradiol co-treated with drospirenone] results in increased expression of SERPINA6 protein	11245553
D004997	Ethinyl Estradiol	[Ethinyl Estradiol co-treated with norgestimate] results in increased expression of SERPINA6 protein	16982228
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of SERPINA6 mRNA	17942748
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in decreased expression of SERPINA6 mRNA	17942748
C024565	ethylene dichloride	ethylene dichloride results in decreased expression of SERPINA6 mRNA	28189721
D005485	Flutamide	Flutamide results in decreased expression of SERPINA6 mRNA	24136188
D005485	Flutamide	Flutamide results in increased expression of SERPINA6 mRNA	24793618
C056933	fumonisin B1	fumonisin B1 results in decreased expression of SERPINA6 mRNA	16221962
D005897	Glafenine	Glafenine results in decreased expression of SERPINA6 mRNA	24136188
D005938	Glucocorticoids	SERPINA6 protein results in increased transport of Glucocorticoids	22932886
C508665	gold (III) porphyrin 1a	gold (III) porphyrin 1a results in decreased expression of SERPINA6 mRNA	16206274
C412815	GW 4064	GW 4064 results in decreased expression of SERPINA6 mRNA	26655953
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of SERPINA6 mRNA	28628672
C410337	K 7174	K 7174 results in decreased expression of SERPINA6 mRNA	24086573
D000077339	Leflunomide	Leflunomide results in decreased expression of SERPINA6 mRNA	24136188
D008701	Methapyrilene	Methapyrilene results in increased expression of SERPINA6 mRNA	30467583
D008939	Mitotane	ESR1 protein promotes the reaction [Mitotane results in increased expression of SERPINA6 protein]	16551731
D008939	Mitotane	Mitotane results in increased expression of SERPINA6 protein	16551731
C583365	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide results in increased expression of SERPINA6 mRNA	29244179
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of SERPINA6 mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of SERPINA6 mRNA	25620056
C051752	nefazodone	nefazodone results in decreased expression of SERPINA6 mRNA	24136188
D009532	Nickel	SERPINA6 protein binds to Nickel	23896426
C012655	nimesulide	nimesulide results in decreased expression of SERPINA6 mRNA	24136188
C017576	norgestimate	[Ethinyl Estradiol co-treated with norgestimate] results in increased expression of SERPINA6 protein	16982228
C108709	oleoyl-estrone	oleoyl-estrone results in decreased expression of SERPINA6 mRNA	9719451
C511292	Ortho Evra	Ortho Evra results in increased expression of SERPINA6 protein	16982228
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in decreased expression of SERPINA6 mRNA	19162173
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in increased expression of SERPINA6 protein	29721586
C023036	perfluorooctanoic acid	SERPINA6 protein inhibits the reaction [perfluorooctanoic acid results in decreased expression of CYP11A1 protein]	29721586
C023036	perfluorooctanoic acid	SERPINA6 protein inhibits the reaction [perfluorooctanoic acid results in decreased expression of CYP17A1 protein]	29721586
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in increased expression of SERPINA6 mRNA	28511854
C027579	periodate-oxidized adenosine	periodate-oxidized adenosine affects the expression of SERPINA6 mRNA	17097637
D010634	Phenobarbital	Phenobarbital affects the expression of SERPINA6 mRNA	23091169
C006253	pirinixic acid	pirinixic acid results in decreased expression of SERPINA6 mRNA	16221962; 20059764;
C006253	pirinixic acid	PPARA protein promotes the reaction [pirinixic acid results in decreased expression of SERPINA6 mRNA]	20059764
D010936	Plant Extracts	Plant Extracts results in decreased expression of SERPINA6 mRNA	23557933
D011192	Potassium Dichromate	Potassium Dichromate affects the expression of SERPINA6 mRNA	23608068
D011285	Pregnenolone Carbonitrile	Pregnenolone Carbonitrile results in increased expression of SERPINA6 mRNA	27413110
D011374	Progesterone	SERPINA6 protein results in increased transport of Progesterone	22932886
C045950	propiconazole	propiconazole results in increased expression of SERPINA6 mRNA	21278054; 22334560;
D011794	Quercetin	Quercetin results in decreased expression of SERPINA6 mRNA	21632981
D000077185	Resveratrol	[Resveratrol co-treated with Streptozocin] results in decreased expression of SERPINA6 mRNA	25905778
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of SERPINA6 mRNA]	31150632
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of SERPINA6 mRNA	25895662
D012834	Silver	Silver results in increased expression of SERPINA6 mRNA	27131904
C017947	sodium arsenite	sodium arsenite results in decreased expression of SERPINA6 mRNA	29301061
C017947	sodium arsenite	sodium arsenite results in increased expression of SERPINA6 mRNA	17350061
D013311	Streptozocin	[Resveratrol co-treated with Streptozocin] results in decreased expression of SERPINA6 mRNA	25905778
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of SERPINA6 mRNA	20702594; 28922406;
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin binds to AHR protein] which results in increased expression of SERPINA6 mRNA	16214954
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in decreased expression of SERPINA6 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of SERPINA6 mRNA	18796159; 19770486;
D013853	Thioacetamide	Thioacetamide results in decreased expression of SERPINA6 mRNA	11793227
D013853	Thioacetamide	[Diethylnitrosamine co-treated with Thioacetamide] results in decreased expression of SERPINA6 mRNA	28943392
D014284	Triiodothyronine	Triiodothyronine results in increased expression of SERPINA6 mRNA	29357290
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of SERPINA6 mRNA	26179874
D014635	Valproic Acid	Valproic Acid affects the expression of SERPINA6 mRNA	17292431; 17963808;
D014640	Vancomycin	Vancomycin results in increased expression of SERPINA6 mRNA	18930951
D015032	Zinc	SERPINA6 protein binds to Zinc	23896426

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0903	Direct protein sequencing
KW-0225	Disease mutation
KW-0325	Glycoprotein
KW-0446	Lipid-binding
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0964	Secreted
KW-0732	Signal
KW-0754	Steroid-binding
KW-0813	Transport

Interpro

InterPro ID	InterPro Term
IPR023795	Serpin_CS
IPR023796	Serpin_dom
IPR000215	Serpin_fam
IPR036186	Serpin_sf
IPR042178	Serpin_sf_1
IPR042185	Serpin_sf_2

PROSITE

PROSITE ID	PROSITE Term
PS00284	SERPIN

Pfam

Pfam ID	Pfam Term
PF00079	Serpin

Gene: SERPINA6

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

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