CleftGeneDB-Search

Gene: PRSS1

Basic information

Tag	Content
Uniprot ID	P07477; A1A509; A6NJ71; B2R5I5; Q5NV57; Q7M4N3; Q7M4N4; Q92955; Q9HAN4; Q9HAN5; Q9HAN6; Q9HAN7;
Entrez ID	5644
Genbank protein ID	EAL23773.1; AAA61231.1; AAG30943.1; AAG30948.1; AAI28227.1; AAC50728.1; AAG30947.1; AAC80207.1; EAW51925.1; AAG30949.1; BAG35132.1;
Genbank nucleotide ID	NM_002769.4
Ensembl protein ID	ENSP00000308720; ENSP00000479217;
Ensembl nucleotide ID	ENSG00000204983; ENSG00000274247;
Gene name	Trypsin-1
Gene symbol	PRSS1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	26449438
Functional description	Has activity against the synthetic substrates Boc-Phe-Ser-Arg-Mec, Boc-Leu-Thr-Arg-Mec, Boc-Gln-Ala-Arg-Mec and Boc-Val-Pro-Arg-Mec. The single-chain form is more active than the two-chain form against all of these substrates.
Sequence	MNPLLILTFV AAALAAPFDD DDKIVGGYNC EENSVPYQVS LNSGYHFCGG SLINEQWVVS 60 AGHCYKSRIQ VRLGEHNIEV LEGNEQFINA AKIIRHPQYD RKTLNNDIML IKLSSRAVIN 120 ARVSTISLPT APPATGTKCL ISGWGNTASS GADYPDELQC LDAPVLSQAK CEASYPGKIT 180 SNMFCVGFLE GGKDSCQGDS GGPVVCNGQL QGVVSWGDGC AQKNKPGVYT KVYNYVKWIK 240 NTIAANS 247

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
1FXY
1TRN
2RA3
4WWY
4WXV
1FXY
1TRN

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
PRSS1	c.542C>T; p.S181N	WES and Sanger sequencing	26449438

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs762980620	p.Asn2His	missense variant	-	NC_000007.14:g.142749488A>C	ExAC,gnomAD
rs140591237	p.Asn2Lys	missense variant	-	NC_000007.14:g.142749490T>G	ESP,ExAC,TOPMed,gnomAD
rs140591237	p.Asn2Lys	missense variant	-	NC_000007.14:g.142749490T>A	ESP,ExAC,TOPMed,gnomAD
rs1168615709	p.Asn2Ser	missense variant	-	NC_000007.14:g.142749489A>G	TOPMed,gnomAD
rs374597855	p.Pro3Leu	missense variant	-	NC_000007.14:g.142749492C>T	ExAC,gnomAD
COSM3634882	p.Pro3Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142749491C>T	NCI-TCGA Cosmic
rs767036052	p.Leu4Pro	missense variant	-	NC_000007.14:g.142749495T>C	ExAC,gnomAD
COSM745259	p.Leu4Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142749494C>T	NCI-TCGA Cosmic
rs755628827	p.Leu5Pro	missense variant	-	NC_000007.14:g.142749498T>C	ExAC,TOPMed,gnomAD
rs201027769	p.Thr8Ile	missense variant	-	NC_000007.14:g.142749507C>T	TOPMed,gnomAD
rs749856663	p.Thr8Ala	missense variant	-	NC_000007.14:g.142749506A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr8Ser	missense variant	-	NC_000007.14:g.142749506A>T	NCI-TCGA
NCI-TCGA novel	p.Thr8LeuPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.142749506_142749507AC>-	NCI-TCGA
rs201027769	p.Thr8Asn	missense variant	-	NC_000007.14:g.142749507C>A	TOPMed,gnomAD
rs1309860298	p.Phe9Ser	missense variant	-	NC_000007.14:g.142749510T>C	gnomAD
rs755460834	p.Val10Ala	missense variant	-	NC_000007.14:g.142749513T>C	ExAC,gnomAD
rs1159821029	p.Val10Met	missense variant	-	NC_000007.14:g.142749512G>A	TOPMed
rs1276830284	p.Ala11Thr	missense variant	-	NC_000007.14:g.142749515G>A	TOPMed,gnomAD
rs748442280	p.Ala11Glu	missense variant	-	NC_000007.14:g.142749516C>A	ExAC,TOPMed,gnomAD
rs748442280	p.Ala11Gly	missense variant	-	NC_000007.14:g.142749516C>G	ExAC,TOPMed,gnomAD
RCV000633998	p.Ala11Thr	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142749515G>A	ClinVar
rs772363999	p.Ala12Gly	missense variant	-	NC_000007.14:g.142749519C>G	ExAC,TOPMed,gnomAD
rs772363999	p.Ala12Val	missense variant	-	NC_000007.14:g.142749519C>T	ExAC,TOPMed,gnomAD
rs773357729	p.Ala13Val	missense variant	-	NC_000007.14:g.142749522C>T	ExAC,gnomAD
rs747228052	p.Leu14Phe	missense variant	-	NC_000007.14:g.142749524C>T	ExAC,TOPMed,gnomAD
rs747228052	p.Leu14Val	missense variant	-	NC_000007.14:g.142749524C>G	ExAC,TOPMed,gnomAD
RCV000633994	p.Leu14Phe	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142749524C>T	ClinVar
rs200665515	p.Ala15Gly	missense variant	-	NC_000007.14:g.142750558C>G	ExAC,TOPMed,gnomAD
rs749319393	p.Ala15Ser	missense variant	-	NC_000007.14:g.142750557G>T	ExAC,gnomAD
rs749319393	p.Ala15Thr	missense variant	-	NC_000007.14:g.142750557G>A	ExAC,gnomAD
rs202003805	p.Ala16Val	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750561C>T	UniProt,dbSNP
VAR_011693	p.Ala16Val	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750561C>T	UniProt
RCV000626826	p.Ala16Val	missense variant	-	NC_000007.14:g.142750561C>T	ClinVar
rs202003805	p.Ala16Val	missense variant	-	NC_000007.14:g.142750561C>T	ExAC,TOPMed,gnomAD
rs770782578	p.Pro17Ser	missense variant	-	NC_000007.14:g.142750563C>T	ExAC,TOPMed,gnomAD
rs770782578	p.Pro17Ala	missense variant	-	NC_000007.14:g.142750563C>G	ExAC,TOPMed,gnomAD
rs776401461	p.Pro17Leu	missense variant	-	NC_000007.14:g.142750564C>T	ExAC,TOPMed,gnomAD
rs776401461	p.Pro17His	missense variant	-	NC_000007.14:g.142750564C>A	ExAC,TOPMed,gnomAD
rs776401461	p.Pro17Arg	missense variant	-	NC_000007.14:g.142750564C>G	ExAC,TOPMed,gnomAD
rs1186519176	p.Phe18Ser	missense variant	-	NC_000007.14:g.142750567T>C	TOPMed,gnomAD
rs769369961	p.Asp19Gly	missense variant	-	NC_000007.14:g.142750570A>G	ExAC,gnomAD
rs1290235881	p.Asp19Glu	missense variant	-	NC_000007.14:g.142750571T>A	TOPMed
COSM3735772	p.Asp19Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142750569G>A	NCI-TCGA Cosmic
rs774895653	p.Asp20Asn	missense variant	-	NC_000007.14:g.142750572G>A	ExAC,gnomAD
rs1222840668	p.Asp21Tyr	missense variant	-	NC_000007.14:g.142750575G>T	TOPMed,gnomAD
rs1222840668	p.Asp21Asn	missense variant	-	NC_000007.14:g.142750575G>A	TOPMed,gnomAD
rs397507442	p.Asp22Gly	missense variant	-	NC_000007.14:g.142750579A>G	-
RCV000031922	p.Asp22Gly	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750579A>G	ClinVar
rs111033567	p.Lys23Arg	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750582A>G	UniProt,dbSNP
VAR_011653	p.Lys23Arg	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750582A>G	UniProt
rs111033567	p.Lys23Arg	missense variant	-	NC_000007.14:g.142750582A>G	-
rs1290077635	p.Lys23Ter	stop gained	-	NC_000007.14:g.142750581A>T	TOPMed,gnomAD
RCV000012653	p.Lys23Arg	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750582A>G	ClinVar
rs774960689	p.Ile24Val	missense variant	-	NC_000007.14:g.142750584A>G	ExAC,TOPMed,gnomAD
rs774960689	p.Ile24Leu	missense variant	-	NC_000007.14:g.142750584A>C	ExAC,TOPMed,gnomAD
rs768051473	p.Val25Ile	missense variant	-	NC_000007.14:g.142750587G>A	ExAC,TOPMed,gnomAD
rs564368252	p.Val25Ala	missense variant	-	NC_000007.14:g.142750588T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs768051473	p.Val25Leu	missense variant	-	NC_000007.14:g.142750587G>C	ExAC,TOPMed,gnomAD
RCV000529818	p.Val25Ile	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750587G>A	ClinVar
rs753883523	p.Gly26Glu	missense variant	-	NC_000007.14:g.142750591G>A	ExAC,gnomAD
rs766579839	p.Gly26Arg	missense variant	-	NC_000007.14:g.142750590G>C	ExAC,TOPMed,gnomAD
COSM4926355	p.Gly26Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142750590G>A	NCI-TCGA Cosmic
rs772505940	p.Tyr28Ter	stop gained	-	NC_000007.14:g.142750597dup	ExAC
rs1405433158	p.Tyr28His	missense variant	-	NC_000007.14:g.142750596T>C	TOPMed
NCI-TCGA novel	p.Tyr28Cys	missense variant	-	NC_000007.14:g.142750597A>G	NCI-TCGA
rs111033566	p.Asn29Ile	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750600A>T	UniProt,dbSNP
VAR_006720	p.Asn29Ile	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750600A>T	UniProt
rs111033566	p.Asn29Ile	missense variant	-	NC_000007.14:g.142750600A>T	ExAC,TOPMed,gnomAD
rs747010881	p.Asn29Lys	missense variant	-	NC_000007.14:g.142750601C>G	ExAC,TOPMed,gnomAD
RCV000506924	p.Asn29Ile	missense variant	-	NC_000007.14:g.142750600A>T	ClinVar
RCV000031923	p.Asn29Thr	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750600A>C	ClinVar
RCV000763166	p.Asn29Ile	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750600A>T	ClinVar
rs111033566	p.Asn29Thr	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750600A>C	UniProt,dbSNP
VAR_012712	p.Asn29Thr	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750600A>C	UniProt
rs111033566	p.Asn29Thr	missense variant	-	NC_000007.14:g.142750600A>C	ExAC,TOPMed,gnomAD
RCV000012652	p.Asn29Ile	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750600A>T	ClinVar
rs1432168030	p.Cys30Ser	missense variant	-	NC_000007.14:g.142750602T>A	gnomAD
rs780969708	p.Cys30Trp	missense variant	-	NC_000007.14:g.142750604T>G	ExAC
COSM6108803	p.Cys30Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142750603G>A	NCI-TCGA Cosmic
rs1253944625	p.Glu32Asp	missense variant	-	NC_000007.14:g.142750610G>C	TOPMed
rs1449124096	p.Glu32Gly	missense variant	-	NC_000007.14:g.142750609A>G	gnomAD
rs1350428784	p.Glu32Lys	missense variant	-	NC_000007.14:g.142750608G>A	gnomAD
NCI-TCGA novel	p.Ser34Phe	missense variant	-	NC_000007.14:g.142750615C>T	NCI-TCGA
rs1286351441	p.Val35Leu	missense variant	-	NC_000007.14:g.142750617G>C	gnomAD
rs1286351441	p.Val35Ile	missense variant	-	NC_000007.14:g.142750617G>A	gnomAD
rs769459903	p.Pro36Arg	missense variant	-	NC_000007.14:g.142750621C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro36Leu	missense variant	-	NC_000007.14:g.142750621C>T	NCI-TCGA
RCV000526911	p.Pro36Arg	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750621C>G	ClinVar
RCV000764693	p.Pro36Arg	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750621C>G	ClinVar
COSM599514	p.Tyr37Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142750624A>G	NCI-TCGA Cosmic
rs775259109	p.Gln38Lys	missense variant	-	NC_000007.14:g.142750626C>A	ExAC,gnomAD
rs775259109	p.Gln38Glu	missense variant	-	NC_000007.14:g.142750626C>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln38Ter	stop gained	-	NC_000007.14:g.142750626C>T	NCI-TCGA
rs397507439	p.Val39Ala	missense variant	-	NC_000007.14:g.142750630T>C	-
RCV000031918	p.Val39Ala	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750630T>C	ClinVar
rs768277012	p.Ser40Phe	missense variant	-	NC_000007.14:g.142750633C>T	ExAC,TOPMed,gnomAD
rs768277012	p.Ser40Tyr	missense variant	-	NC_000007.14:g.142750633C>A	ExAC,TOPMed,gnomAD
rs768277012	p.Ser40Cys	missense variant	-	NC_000007.14:g.142750633C>G	ExAC,TOPMed,gnomAD
rs1207195050	p.Asn42His	missense variant	-	NC_000007.14:g.142750638A>C	gnomAD
rs1223231582	p.Asn42Ser	missense variant	-	NC_000007.14:g.142750639A>G	TOPMed
rs1437198196	p.Ser43Phe	missense variant	-	NC_000007.14:g.142750642C>T	gnomAD
rs773739445	p.Gly44Ala	missense variant	-	NC_000007.14:g.142750645G>C	ExAC,TOPMed,gnomAD
rs773739445	p.Gly44Asp	missense variant	-	NC_000007.14:g.142750645G>A	ExAC,TOPMed,gnomAD
rs772636606	p.Gly44Ser	missense variant	-	NC_000007.14:g.142750644G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly44Cys	missense variant	-	NC_000007.14:g.142750644G>T	NCI-TCGA
rs1331796325	p.Tyr45Ser	missense variant	-	NC_000007.14:g.142750648A>C	TOPMed
COSM6108802	p.His46Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142750651A>T	NCI-TCGA Cosmic
rs138464021	p.Gly49Asp	missense variant	-	NC_000007.14:g.142750660G>A	ExAC,TOPMed,gnomAD
rs138464021	p.Gly49Val	missense variant	-	NC_000007.14:g.142750660G>T	ExAC,TOPMed,gnomAD
RCV000455215	p.Gly49Val	missense variant	-	NC_000007.14:g.142750660G>T	ClinVar
rs1166804108	p.Gly50Asp	missense variant	-	NC_000007.14:g.142750663G>A	gnomAD
rs1368323821	p.Gly50Ser	missense variant	-	NC_000007.14:g.142750662G>A	TOPMed
rs1415566919	p.Ser51Tyr	missense variant	-	NC_000007.14:g.142750666C>A	gnomAD
rs757218067	p.Leu52Val	missense variant	-	NC_000007.14:g.142750668C>G	ExAC,TOPMed,gnomAD
rs757218067	p.Leu52Phe	missense variant	-	NC_000007.14:g.142750668C>T	ExAC,TOPMed,gnomAD
rs149246646	p.Ile53Asn	missense variant	-	NC_000007.14:g.142750672T>A	ExAC,TOPMed,gnomAD
RCV000012656	p.Asn54Ser	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142750675A>G	ClinVar
NCI-TCGA novel	p.Asn54Lys	missense variant	-	NC_000007.14:g.142750676C>A	NCI-TCGA
rs148440491	p.Asn54Lys	missense variant	-	NC_000007.14:g.142750676C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs144422014	p.Asn54Ser	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750675A>G	UniProt,dbSNP
VAR_037908	p.Asn54Ser	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142750675A>G	UniProt
rs144422014	p.Asn54Ser	missense variant	-	NC_000007.14:g.142750675A>G	ExAC,TOPMed,gnomAD
rs1365488828	p.Glu55Gln	missense variant	-	NC_000007.14:g.142750677G>C	TOPMed,gnomAD
COSM3634892	p.Glu55Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142750677G>A	NCI-TCGA Cosmic
rs147366981	p.Gln56Ter	stop gained	-	NC_000007.14:g.142750680C>T	ExAC,TOPMed,gnomAD
rs147366981	p.Gln56Lys	missense variant	-	NC_000007.14:g.142750680C>A	ExAC,TOPMed,gnomAD
rs1338095991	p.Gln56Arg	missense variant	-	NC_000007.14:g.142750681A>G	gnomAD
rs1338646513	p.Trp57Cys	missense variant	-	NC_000007.14:g.142750685G>T	gnomAD
rs778570468	p.Trp57Gly	missense variant	-	NC_000007.14:g.142750683T>G	ExAC,gnomAD
rs1219784204	p.Val58Met	missense variant	-	NC_000007.14:g.142750686G>A	gnomAD
rs1192452565	p.Val58Gly	missense variant	-	NC_000007.14:g.142750687T>G	TOPMed
rs1280472573	p.Val59Ile	missense variant	-	NC_000007.14:g.142750689G>A	gnomAD
COSM3735311	p.Ser60Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142750693C>T	NCI-TCGA Cosmic
rs370761165	p.Ala61Glu	missense variant	-	NC_000007.14:g.142750696C>A	ESP,ExAC,gnomAD
rs149455681	p.Gly62Ala	missense variant	-	NC_000007.14:g.142750699G>C	ExAC,TOPMed,gnomAD
rs776806418	p.His63Arg	missense variant	-	NC_000007.14:g.142750702A>G	ExAC,gnomAD
rs1224714031	p.Tyr65His	missense variant	-	NC_000007.14:g.142750707T>C	gnomAD
rs759809930	p.Lys66Ter	stop gained	-	NC_000007.14:g.142750710A>T	ExAC,TOPMed,gnomAD
rs765342413	p.Ser67Tyr	missense variant	-	NC_000007.14:g.142750714C>A	ExAC,TOPMed,gnomAD
rs765342413	p.Ser67Phe	missense variant	-	NC_000007.14:g.142750714C>T	ExAC,TOPMed,gnomAD
rs145867820	p.Arg68Cys	missense variant	-	NC_000007.14:g.142751775C>T	ExAC,TOPMed,gnomAD
rs757111793	p.Arg68His	missense variant	-	NC_000007.14:g.142751776G>A	ExAC,TOPMed,gnomAD
rs757111793	p.Arg68Leu	missense variant	-	NC_000007.14:g.142751776G>T	ExAC,TOPMed,gnomAD
rs1431688642	p.Ile69Met	missense variant	-	NC_000007.14:g.142751780C>G	TOPMed
rs1237210606	p.Ile69Asn	missense variant	-	NC_000007.14:g.142751779T>A	gnomAD
RCV000539474	p.Ile69Met	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751780C>G	ClinVar
NCI-TCGA novel	p.Gln70Leu	missense variant	-	NC_000007.14:g.142751782A>T	NCI-TCGA
rs745551657	p.Val71Met	missense variant	-	NC_000007.14:g.142751784G>A	ExAC,gnomAD
rs769266571	p.Arg72Thr	missense variant	-	NC_000007.14:g.142751788G>C	ExAC,TOPMed,gnomAD
rs1248279792	p.Leu73Met	missense variant	-	NC_000007.14:g.142751790C>A	TOPMed,gnomAD
rs1248279792	p.Leu73Val	missense variant	-	NC_000007.14:g.142751790C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Leu73Gln	missense variant	-	NC_000007.14:g.142751791T>A	NCI-TCGA
rs1166447807	p.Gly74Ter	stop gained	-	NC_000007.14:g.142751793G>T	gnomAD
COSM3634894	p.Gly74Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142751794G>A	NCI-TCGA Cosmic
rs779649447	p.Glu75Lys	missense variant	-	NC_000007.14:g.142751796G>A	ExAC,gnomAD
rs1254878660	p.His76Gln	missense variant	-	NC_000007.14:g.142751801C>A	TOPMed
rs1468857521	p.His76Pro	missense variant	-	NC_000007.14:g.142751800A>C	TOPMed
rs768255958	p.Ile78Val	missense variant	-	NC_000007.14:g.142751805A>G	ExAC,gnomAD
rs1179289939	p.Glu79Gly	missense variant	-	NC_000007.14:g.142751809A>G	TOPMed,gnomAD
rs111033564	p.Glu79Lys	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751808G>A	UniProt,dbSNP
VAR_037909	p.Glu79Lys	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751808G>A	UniProt
rs111033564	p.Glu79Lys	missense variant	-	NC_000007.14:g.142751808G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1448759	p.Glu79Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142751810A>C	NCI-TCGA Cosmic
RCV000757691	p.Glu79Lys	missense variant	-	NC_000007.14:g.142751808G>A	ClinVar
RCV000012655	p.Glu79Lys	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751808G>A	ClinVar
rs372411481	p.Gly83Trp	missense variant	-	NC_000007.14:g.142751820G>T	ESP,ExAC,TOPMed,gnomAD
rs372411481	p.Gly83Arg	missense variant	-	NC_000007.14:g.142751820G>A	ESP,ExAC,TOPMed,gnomAD
rs372411481	p.Gly83Arg	missense variant	-	NC_000007.14:g.142751820G>C	ESP,ExAC,TOPMed,gnomAD
COSM3634898	p.Gly83Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142751821G>A	NCI-TCGA Cosmic
rs1385704003	p.Asn84Ile	missense variant	-	NC_000007.14:g.142751824A>T	TOPMed
rs759654213	p.Glu85Lys	missense variant	-	NC_000007.14:g.142751826G>A	ExAC,gnomAD
rs759654213	p.Glu85Ter	stop gained	-	NC_000007.14:g.142751826G>T	ExAC,gnomAD
COSM745258	p.Glu85Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142751826G>C	NCI-TCGA Cosmic
rs146398318	p.Gln86Ter	stop gained	-	NC_000007.14:g.142751829C>T	ESP,ExAC,TOPMed,gnomAD
rs757132372	p.Phe87Ile	missense variant	-	NC_000007.14:g.142751832T>A	ExAC,gnomAD
rs767354237	p.Phe87Leu	missense variant	-	NC_000007.14:g.142751834C>A	ExAC,gnomAD
RCV000528244	p.Phe87Leu	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751834C>A	ClinVar
rs1298928593	p.Ile88Phe	missense variant	-	NC_000007.14:g.142751835A>T	gnomAD
rs1383806868	p.Ile88Asn	missense variant	-	NC_000007.14:g.142751836T>A	TOPMed,gnomAD
rs199836666	p.Ile88Met	missense variant	-	NC_000007.14:g.142751837C>G	ExAC,TOPMed
rs755816580	p.Asn89His	missense variant	-	NC_000007.14:g.142751838A>C	ExAC,TOPMed,gnomAD
rs755816580	p.Asn89Asp	missense variant	-	NC_000007.14:g.142751838A>G	ExAC,TOPMed,gnomAD
rs755816580	p.Asn89Tyr	missense variant	-	NC_000007.14:g.142751838A>T	ExAC,TOPMed,gnomAD
rs1446407497	p.Asn89Ile	missense variant	-	NC_000007.14:g.142751839A>T	TOPMed
rs779618969	p.Asn89Lys	missense variant	-	NC_000007.14:g.142751840T>A	ExAC,gnomAD
rs984312649	p.Ala90Val	missense variant	-	NC_000007.14:g.142751842C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ala90Thr	missense variant	-	NC_000007.14:g.142751841G>A	NCI-TCGA
rs748678217	p.Ala91Val	missense variant	-	NC_000007.14:g.142751845C>T	ExAC,gnomAD
rs778549864	p.Ala91Thr	missense variant	-	NC_000007.14:g.142751844G>A	ExAC,gnomAD
rs908729974	p.Lys92Asn	missense variant	-	NC_000007.14:g.142751849G>C	TOPMed,gnomAD
rs1484477439	p.Ile93Phe	missense variant	-	NC_000007.14:g.142751850A>T	TOPMed
rs1461511291	p.Ile94Thr	missense variant	-	NC_000007.14:g.142751854T>C	gnomAD
rs545007137	p.Ile94Met	missense variant	-	NC_000007.14:g.142751855C>G	1000Genomes,ExAC,gnomAD
rs201775810	p.Arg95Gly	missense variant	-	NC_000007.14:g.142751856C>G	ExAC,TOPMed,gnomAD
rs375820192	p.Arg95His	missense variant	-	NC_000007.14:g.142751857G>A	ESP,ExAC,TOPMed,gnomAD
rs375820192	p.Arg95Pro	missense variant	-	NC_000007.14:g.142751857G>C	ESP,ExAC,TOPMed,gnomAD
rs201775810	p.Arg95Cys	missense variant	-	NC_000007.14:g.142751856C>T	ExAC,TOPMed,gnomAD
rs1209409723	p.His96Gln	missense variant	-	NC_000007.14:g.142751861C>A	TOPMed,gnomAD
rs1268805560	p.His96Tyr	missense variant	-	NC_000007.14:g.142751859C>T	TOPMed
rs765315575	p.Pro97His	missense variant	-	NC_000007.14:g.142751863C>A	ExAC,TOPMed,gnomAD
rs765315575	p.Pro97Leu	missense variant	-	NC_000007.14:g.142751863C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro97Arg	missense variant	-	NC_000007.14:g.142751863C>G	NCI-TCGA
rs1297813457	p.Pro97Ser	missense variant	-	NC_000007.14:g.142751862C>T	TOPMed
RCV000707326	p.Gln98LysTyrAsnSerArg	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751865_142751878delinsAAATACAACAGCCG	ClinVar
rs750348889	p.Gln98Lys	missense variant	-	NC_000007.14:g.142751865C>A	ExAC,TOPMed,gnomAD
rs1407084355	p.Gln98Arg	missense variant	-	NC_000007.14:g.142751866A>G	gnomAD
RCV000703574	p.Gln98His	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751867A>T	ClinVar
rs373659879	p.Tyr99Ter	stop gained	-	NC_000007.14:g.142751870C>G	ExAC,TOPMed,gnomAD
rs1454816504	p.Tyr99Cys	missense variant	-	NC_000007.14:g.142751869A>G	gnomAD
rs199507985	p.Asp100Asn	missense variant	-	NC_000007.14:g.142751871G>A	ExAC,TOPMed,gnomAD
rs754618801	p.Lys102Glu	missense variant	-	NC_000007.14:g.142751877A>G	ExAC,TOPMed,gnomAD
rs778568523	p.Lys102Met	missense variant	-	NC_000007.14:g.142751878A>T	ExAC,TOPMed,gnomAD
rs1373631104	p.Lys102Asn	missense variant	-	NC_000007.14:g.142751879G>T	TOPMed
rs754618801	p.Lys102Ter	stop gained	-	NC_000007.14:g.142751877A>T	ExAC,TOPMed,gnomAD
rs778568523	p.Lys102Arg	missense variant	-	NC_000007.14:g.142751878A>G	ExAC,TOPMed,gnomAD
rs1195251647	p.Thr103Ile	missense variant	-	NC_000007.14:g.142751881C>T	TOPMed
rs1554499091	p.Leu104Pro	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751884T>C	UniProt,dbSNP
VAR_011654	p.Leu104Pro	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751884T>C	UniProt
rs1554499091	p.Leu104Pro	missense variant	-	NC_000007.14:g.142751884T>C	-
RCV000507513	p.Leu104Pro	missense variant	-	NC_000007.14:g.142751884T>C	ClinVar
rs200254850	p.Asn105Asp	missense variant	-	NC_000007.14:g.142751886A>G	ExAC,gnomAD
rs1264201914	p.Asn105Lys	missense variant	-	NC_000007.14:g.142751888C>A	gnomAD
rs1323769980	p.Asp107Tyr	missense variant	-	NC_000007.14:g.142751892G>T	gnomAD
rs758965932	p.Asp107Gly	missense variant	-	NC_000007.14:g.142751893A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp107Asn	missense variant	-	NC_000007.14:g.142751892G>A	NCI-TCGA
NCI-TCGA novel	p.Ile108Thr	missense variant	-	NC_000007.14:g.142751896T>C	NCI-TCGA
rs201165989	p.Met109Leu	missense variant	-	NC_000007.14:g.142751898A>C	ExAC,gnomAD
rs1482612529	p.Met109Thr	missense variant	-	NC_000007.14:g.142751899T>C	gnomAD
NCI-TCGA novel	p.Ile111Val	missense variant	-	NC_000007.14:g.142751904A>G	NCI-TCGA
rs1426710453	p.Leu113His	missense variant	-	NC_000007.14:g.142751911T>A	TOPMed,gnomAD
rs606231344	p.Ser115Thr	missense variant	-	NC_000007.14:g.142751916T>A	ExAC,TOPMed,gnomAD
RCV000149410	p.Ser115Thr	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751916T>A	ClinVar
NCI-TCGA novel	p.Ser115Ter	stop gained	-	NC_000007.14:g.142751917C>G	NCI-TCGA
rs387906698	p.Arg116Cys	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751919C>T	UniProt,dbSNP
VAR_011655	p.Arg116Cys	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751919C>T	UniProt
rs387906698	p.Arg116Cys	missense variant	-	NC_000007.14:g.142751919C>T	ExAC,TOPMed,gnomAD
rs199769221	p.Arg116Leu	missense variant	-	NC_000007.14:g.142751920G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs387906698	p.Arg116Ser	missense variant	-	NC_000007.14:g.142751919C>A	ExAC,TOPMed,gnomAD
rs199769221	p.Arg116His	missense variant	-	NC_000007.14:g.142751920G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000022814	p.Arg116Cys	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751919C>T	ClinVar
rs199769221	p.Arg116Pro	missense variant	-	NC_000007.14:g.142751920G>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000149411	p.Arg116Pro	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751920G>C	ClinVar
rs1454337017	p.Ala117Ser	missense variant	-	NC_000007.14:g.142751922G>T	gnomAD
NCI-TCGA novel	p.Ala117Thr	missense variant	-	NC_000007.14:g.142751922G>A	NCI-TCGA
rs753618826	p.Val118Gly	missense variant	-	NC_000007.14:g.142751926T>G	ExAC,TOPMed,gnomAD
rs766098231	p.Val118Ile	missense variant	-	NC_000007.14:g.142751925G>A	ExAC,gnomAD
rs753618826	p.Val118Glu	missense variant	-	NC_000007.14:g.142751926T>A	ExAC,TOPMed,gnomAD
rs606231348	p.Asn120Lys	missense variant	-	NC_000007.14:g.142751933C>A	ExAC,TOPMed,gnomAD
RCV000012660	p.Ala121Thr	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751934G>A	ClinVar
rs199422123	p.Ala121Thr	missense variant	-	NC_000007.14:g.142751934G>A	ExAC,TOPMed,gnomAD
rs199422123	p.Ala121Ser	missense variant	-	NC_000007.14:g.142751934G>T	ExAC,TOPMed,gnomAD
rs111033568	p.Arg122Gly	missense variant	-	NC_000007.14:g.142751937C>G	ESP,ExAC,TOPMed,gnomAD
rs111033568	p.Arg122Cys	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751937C>T	UniProt,dbSNP
VAR_012713	p.Arg122Cys	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751937C>T	UniProt
rs267606982	p.Arg122His	missense variant	-	NC_000007.14:g.142751938_142751939delinsAT	-
rs267606982	p.Arg122His	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751938_142751939delinsAT	UniProt,dbSNP
VAR_006721	p.Arg122His	missense variant	Pancreatitis, hereditary (PCTT)	NC_000007.14:g.142751938_142751939delinsAT	UniProt
RCV000012651	p.Arg122His	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751938G>A	ClinVar
rs111033565	p.Arg122His	missense variant	-	NC_000007.14:g.142751938G>A	ExAC,gnomAD
rs111033568	p.Arg122Cys	missense variant	-	NC_000007.14:g.142751937C>T	ESP,ExAC,TOPMed,gnomAD
RCV000487005	p.Arg122His	missense variant	-	NC_000007.14:g.142751938G>A	ClinVar
RCV000012657	p.Arg122His	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751938_142751939delinsAT	ClinVar
RCV000012658	p.Arg122Cys	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751937C>T	ClinVar
RCV000508091	p.Arg122Cys	missense variant	-	NC_000007.14:g.142751937C>T	ClinVar
RCV000508377	p.Arg122Gly	missense variant	-	NC_000007.14:g.142751937C>G	ClinVar
rs144403091	p.Val123Leu	missense variant	-	NC_000007.14:g.142751940G>T	ESP,ExAC,TOPMed,gnomAD
rs144403091	p.Val123Met	missense variant	-	NC_000007.14:g.142751940G>A	ESP,ExAC,TOPMed,gnomAD
RCV000458624	p.Val123Met	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751940G>A	ClinVar
rs1484849588	p.Ser124Phe	missense variant	-	NC_000007.14:g.142751944C>T	gnomAD
COSM6108799	p.Ser124Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142751943T>A	NCI-TCGA Cosmic
rs200976326	p.Thr125Ala	missense variant	-	NC_000007.14:g.142751946A>G	ExAC,gnomAD
COSM1448760	p.Ser127Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142751953C>A	NCI-TCGA Cosmic
rs749518244	p.Leu128Gln	missense variant	-	NC_000007.14:g.142751956T>A	ExAC,gnomAD
rs749518244	p.Leu128Pro	missense variant	-	NC_000007.14:g.142751956T>C	ExAC,gnomAD
rs768673799	p.Pro129His	missense variant	-	NC_000007.14:g.142751959C>A	ExAC
rs11553845	p.Thr130Pro	missense variant	-	NC_000007.14:g.142751961A>C	ExAC,gnomAD
rs193922655	p.Thr130Ile	missense variant	-	NC_000007.14:g.142751962C>T	-
rs11553845	p.Thr130Ala	missense variant	-	NC_000007.14:g.142751961A>G	ExAC,gnomAD
RCV000030383	p.Thr130Ile	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751962C>T	ClinVar
rs141011596	p.Ala131Thr	missense variant	-	NC_000007.14:g.142751964G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141011596	p.Ala131Ser	missense variant	-	NC_000007.14:g.142751964G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141011596	p.Ala131Pro	missense variant	-	NC_000007.14:g.142751964G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759452330	p.Pro132His	missense variant	-	NC_000007.14:g.142751968C>A	ExAC,gnomAD
rs1453661121	p.Pro132Thr	missense variant	-	NC_000007.14:g.142751967C>A	gnomAD
rs193922656	p.Pro133Arg	missense variant	-	NC_000007.14:g.142751971C>G	-
COSM3634902	p.Pro133Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142751970C>T	NCI-TCGA Cosmic
RCV000030384	p.Pro133Arg	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751971C>G	ClinVar
rs752456117	p.Ala134Thr	missense variant	-	NC_000007.14:g.142751973G>A	ExAC,TOPMed,gnomAD
rs199637670	p.Thr135Ala	missense variant	-	NC_000007.14:g.142751976A>G	ExAC,TOPMed,gnomAD
rs1224059005	p.Thr135Asn	missense variant	-	NC_000007.14:g.142751977C>A	TOPMed,gnomAD
rs117497341	p.Thr137Arg	missense variant	-	NC_000007.14:g.142751983C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs117497341	p.Thr137Met	missense variant	-	NC_000007.14:g.142751983C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000757693	p.Thr137Met	missense variant	-	NC_000007.14:g.142751983C>T	ClinVar
rs749482440	p.Lys138Asn	missense variant	-	NC_000007.14:g.142751987G>C	ExAC,TOPMed,gnomAD
rs11553849	p.Lys138Glu	missense variant	-	NC_000007.14:g.142751985A>G	ExAC,TOPMed,gnomAD
rs768853338	p.Cys139Ser	missense variant	-	NC_000007.14:g.142751989G>C	ExAC,gnomAD
rs141847266	p.Cys139Ter	stop gained	-	NC_000007.14:g.142751990C>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000031919	p.Cys139Ser	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142751988T>A	ClinVar
RCV000757692	p.Cys139Phe	missense variant	-	NC_000007.14:g.142751989G>T	ClinVar
rs397507440	p.Cys139Ser	missense variant	-	NC_000007.14:g.142751988T>A	-
VAR_011656	p.Cys139Phe	Missense	Pancreatitis, hereditary (PCTT) [MIM:167800]	-	UniProt
NCI-TCGA novel	p.Leu140ProPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.142751989_142751990insC	NCI-TCGA
rs748208676	p.Ile141Asn	missense variant	-	NC_000007.14:g.142751995T>A	ExAC,TOPMed,gnomAD
rs748208676	p.Ile141Thr	missense variant	-	NC_000007.14:g.142751995T>C	ExAC,TOPMed,gnomAD
rs772256079	p.Ile141Met	missense variant	-	NC_000007.14:g.142751996C>G	ExAC,gnomAD
rs1164996242	p.Ser142Pro	missense variant	-	NC_000007.14:g.142751997T>C	TOPMed
NCI-TCGA novel	p.Ser142Tyr	missense variant	-	NC_000007.14:g.142751998C>A	NCI-TCGA
NCI-TCGA novel	p.Gly143Ser	missense variant	-	NC_000007.14:g.142752000G>A	NCI-TCGA
rs1164331073	p.Trp144Cys	missense variant	-	NC_000007.14:g.142752005G>T	gnomAD
rs1221038304	p.Gly145Arg	missense variant	-	NC_000007.14:g.142752006G>C	gnomAD
NCI-TCGA novel	p.Asn146Lys	missense variant	-	NC_000007.14:g.142752011C>A	NCI-TCGA
COSM3634904	p.Asn146Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142752009A>T	NCI-TCGA Cosmic
rs769724683	p.Thr147Asn	missense variant	-	NC_000007.14:g.142752013C>A	ExAC,gnomAD
rs762545562	p.Ala148Val	missense variant	-	NC_000007.14:g.142752016C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala148Thr	missense variant	-	NC_000007.14:g.142752015G>A	NCI-TCGA
rs775290386	p.Ala148Pro	missense variant	-	NC_000007.14:g.142752015G>C	ExAC,TOPMed,gnomAD
COSM1568578	p.Ala148Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142752015G>T	NCI-TCGA Cosmic
rs762545562	p.Ala148Gly	missense variant	-	NC_000007.14:g.142752016C>G	ExAC,TOPMed,gnomAD
rs372698855	p.Ser149Arg	missense variant	-	NC_000007.14:g.142752020C>A	ESP,ExAC,TOPMed,gnomAD
rs1209417221	p.Ser149Asn	missense variant	-	NC_000007.14:g.142752019G>A	TOPMed,gnomAD
rs1483916222	p.Gly151Arg	missense variant	-	NC_000007.14:g.142752024G>C	gnomAD
rs766731858	p.Ala152Thr	missense variant	-	NC_000007.14:g.142752027G>A	ExAC,TOPMed,gnomAD
rs770315312	p.Ala152Gly	missense variant	-	NC_000007.14:g.142752431C>G	ExAC,TOPMed,gnomAD
rs770315312	p.Ala152Asp	missense variant	-	NC_000007.14:g.142752431C>A	ExAC,TOPMed,gnomAD
rs753073310	p.Asp153Gly	missense variant	-	NC_000007.14:g.142752434A>G	ExAC,gnomAD
rs1321694161	p.Asp153Glu	missense variant	-	NC_000007.14:g.142752435C>A	gnomAD
rs61735002	p.Asp153His	missense variant	-	NC_000007.14:g.142752433G>C	ESP,ExAC,TOPMed,gnomAD
rs61735002	p.Asp153Asn	missense variant	-	NC_000007.14:g.142752433G>A	ESP,ExAC,TOPMed,gnomAD
rs1199917100	p.Tyr154His	missense variant	-	NC_000007.14:g.142752436T>C	gnomAD
rs1333246826	p.Pro155Arg	missense variant	-	NC_000007.14:g.142752440C>G	TOPMed
rs1355136604	p.Pro155Thr	missense variant	-	NC_000007.14:g.142752439C>A	TOPMed
rs146076691	p.Asp156Glu	missense variant	-	NC_000007.14:g.142752444C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000545622	p.Glu157Lys	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142752445G>A	ClinVar
rs200890507	p.Glu157Lys	missense variant	-	NC_000007.14:g.142752445G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200890507	p.Glu157Gln	missense variant	-	NC_000007.14:g.142752445G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs754802107	p.Gln159Ter	stop gained	-	NC_000007.14:g.142752451C>T	ExAC,TOPMed,gnomAD
COSM6176357	p.Gln159His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142752453G>T	NCI-TCGA Cosmic
rs1172272446	p.Cys160Gly	missense variant	-	NC_000007.14:g.142752454T>G	TOPMed
rs778796800	p.Cys160Phe	missense variant	-	NC_000007.14:g.142752455G>T	ExAC,TOPMed,gnomAD
rs778796800	p.Cys160Tyr	missense variant	-	NC_000007.14:g.142752455G>A	ExAC,TOPMed,gnomAD
rs1172272446	p.Cys160Arg	missense variant	-	NC_000007.14:g.142752454T>C	TOPMed
rs777441424	p.Leu161Pro	missense variant	-	NC_000007.14:g.142752458T>C	ExAC,gnomAD
rs777441424	p.Leu161Arg	missense variant	-	NC_000007.14:g.142752458T>G	ExAC,gnomAD
rs1444451561	p.Leu161Met	missense variant	-	NC_000007.14:g.142752457C>A	TOPMed
rs1171452978	p.Asp162His	missense variant	-	NC_000007.14:g.142752460G>C	gnomAD
rs1248894315	p.Asp162Val	missense variant	-	NC_000007.14:g.142752461A>T	TOPMed
rs557691366	p.Ala163Thr	missense variant	-	NC_000007.14:g.142752463G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs760120835	p.Pro164Thr	missense variant	-	NC_000007.14:g.142752466C>A	ExAC,gnomAD
rs760120835	p.Pro164Ser	missense variant	-	NC_000007.14:g.142752466C>T	ExAC,gnomAD
rs202228418	p.Val165Ala	missense variant	-	NC_000007.14:g.142752470T>C	1000Genomes,ExAC,gnomAD
rs776120935	p.Leu166Pro	missense variant	-	NC_000007.14:g.142752473T>C	ExAC,gnomAD
rs1232891794	p.Ser167Ile	missense variant	-	NC_000007.14:g.142752476G>T	TOPMed,gnomAD
rs763453065	p.Ser167Arg	missense variant	-	NC_000007.14:g.142752477C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser167Asn	missense variant	-	NC_000007.14:g.142752476G>A	NCI-TCGA
rs1232891794	p.Ser167Thr	missense variant	-	NC_000007.14:g.142752476G>C	TOPMed,gnomAD
rs1222150378	p.Gln168Arg	missense variant	-	NC_000007.14:g.142752479A>G	gnomAD
rs575283731	p.Gln168Lys	missense variant	-	NC_000007.14:g.142752478C>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln168ArgPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.142752477C>-	NCI-TCGA
rs1367226833	p.Gln168His	missense variant	-	NC_000007.14:g.142752480G>C	gnomAD
rs1285885738	p.Ala169Thr	missense variant	-	NC_000007.14:g.142752481G>A	gnomAD
rs751892043	p.Ala169Asp	missense variant	-	NC_000007.14:g.142752482C>A	ExAC,TOPMed,gnomAD
rs767634678	p.Lys170Met	missense variant	-	NC_000007.14:g.142752485A>T	ExAC,gnomAD
rs750427023	p.Lys170Asn	missense variant	-	NC_000007.14:g.142752486G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys170Asn	missense variant	-	NC_000007.14:g.142752486G>T	NCI-TCGA
rs201550522	p.Lys170Glu	missense variant	-	NC_000007.14:g.142752484A>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000611439	p.Lys170Glu	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142752484A>G	ClinVar
rs752598739	p.Cys171Ter	stop gained	-	NC_000007.14:g.142752489T>A	ExAC,gnomAD
rs200973660	p.Cys171Tyr	missense variant	-	NC_000007.14:g.142752488G>A	ExAC,gnomAD
rs200973660	p.Cys171Ser	missense variant	-	NC_000007.14:g.142752488G>C	ExAC,gnomAD
rs758254763	p.Glu172Gln	missense variant	-	NC_000007.14:g.142752490G>C	ExAC,TOPMed,gnomAD
rs758254763	p.Glu172Lys	missense variant	-	NC_000007.14:g.142752490G>A	ExAC,TOPMed,gnomAD
rs777531305	p.Ala173Asp	missense variant	-	NC_000007.14:g.142752494C>A	ExAC,TOPMed,gnomAD
rs777531305	p.Ala173Gly	missense variant	-	NC_000007.14:g.142752494C>G	ExAC,TOPMed,gnomAD
rs1459352387	p.Ala173Ser	missense variant	-	NC_000007.14:g.142752493G>T	TOPMed
rs1473604680	p.Ser174Pro	missense variant	-	NC_000007.14:g.142752496T>C	TOPMed
rs746669985	p.Ser174Phe	missense variant	-	NC_000007.14:g.142752497C>T	ExAC,gnomAD
rs756821075	p.Tyr175Asn	missense variant	-	NC_000007.14:g.142752499T>A	ExAC,TOPMed,gnomAD
rs756821075	p.Tyr175His	missense variant	-	NC_000007.14:g.142752499T>C	ExAC,TOPMed,gnomAD
rs1468060476	p.Gly177Glu	missense variant	-	NC_000007.14:g.142752506G>A	TOPMed
rs1468060476	p.Gly177Val	missense variant	-	NC_000007.14:g.142752506G>T	TOPMed
rs1468060476	p.Gly177Ala	missense variant	-	NC_000007.14:g.142752506G>C	TOPMed
rs1240508430	p.Gly177Arg	missense variant	-	NC_000007.14:g.142752505G>A	TOPMed
rs1240508430	p.Gly177Ter	stop gained	-	NC_000007.14:g.142752505G>T	TOPMed
rs267601347	p.Lys178Asn	missense variant	-	NC_000007.14:g.142752510G>T	ExAC,TOPMed,gnomAD
rs1239083612	p.Lys178Arg	missense variant	-	NC_000007.14:g.142752509A>G	TOPMed
rs1386024325	p.Ile179Val	missense variant	-	NC_000007.14:g.142752511A>G	TOPMed,gnomAD
rs1386024325	p.Ile179Leu	missense variant	-	NC_000007.14:g.142752511A>C	TOPMed,gnomAD
rs745420768	p.Thr180Ile	missense variant	-	NC_000007.14:g.142752515C>T	ExAC,gnomAD
rs201719096	p.Ser181Asn	missense variant	-	NC_000007.14:g.142752518G>A	ExAC,TOPMed,gnomAD
rs376907511	p.Ser181Gly	missense variant	-	NC_000007.14:g.142752517A>G	ESP,ExAC,gnomAD
RCV000601108	p.Ser181Asn	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142752518G>A	ClinVar
rs769160661	p.Asn182Asp	missense variant	-	NC_000007.14:g.142752520A>G	ExAC,gnomAD
rs1348773645	p.Asn182Lys	missense variant	-	NC_000007.14:g.142752522C>G	TOPMed
rs200070487	p.Met183Val	missense variant	-	NC_000007.14:g.142752523A>G	ExAC,gnomAD
rs762123204	p.Met183Thr	missense variant	-	NC_000007.14:g.142752524T>C	ExAC,TOPMed,gnomAD
rs762123204	p.Met183Lys	missense variant	-	NC_000007.14:g.142752524T>A	ExAC,TOPMed,gnomAD
rs1382404555	p.Phe184Val	missense variant	-	NC_000007.14:g.142752526T>G	TOPMed
rs1382404555	p.Phe184Leu	missense variant	-	NC_000007.14:g.142752526T>C	TOPMed
NCI-TCGA novel	p.Phe184Leu	missense variant	-	NC_000007.14:g.142752528C>A	NCI-TCGA
NCI-TCGA novel	p.Cys185Ser	missense variant	-	NC_000007.14:g.142752530G>C	NCI-TCGA
rs1157690064	p.Val186Met	missense variant	-	NC_000007.14:g.142752532G>A	TOPMed
rs1250731677	p.Phe188Leu	missense variant	-	NC_000007.14:g.142752540C>G	gnomAD
rs1192281478	p.Phe188Tyr	missense variant	-	NC_000007.14:g.142752539T>A	TOPMed
rs1439241122	p.Leu189Phe	missense variant	-	NC_000007.14:g.142752541C>T	gnomAD
rs1478010608	p.Leu189Pro	missense variant	-	NC_000007.14:g.142752542T>C	TOPMed
NCI-TCGA novel	p.Leu189Ile	missense variant	-	NC_000007.14:g.142752541C>A	NCI-TCGA
rs752688735	p.Gly191Arg	missense variant	-	NC_000007.14:g.142752547G>A	ExAC,gnomAD
rs1185286983	p.Gly192Ser	missense variant	-	NC_000007.14:g.142752550G>A	gnomAD
rs1366653442	p.Lys193Glu	missense variant	-	NC_000007.14:g.142752553A>G	gnomAD
NCI-TCGA novel	p.Lys193Asn	missense variant	-	NC_000007.14:g.142752555G>T	NCI-TCGA
COSM6108795	p.Lys193Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142752554A>T	NCI-TCGA Cosmic
rs1217657614	p.Asp194Val	missense variant	-	NC_000007.14:g.142752557A>T	TOPMed
rs763907908	p.Cys196Gly	missense variant	-	NC_000007.14:g.142752562T>G	ExAC,gnomAD
rs757054367	p.Gln197Ter	stop gained	-	NC_000007.14:g.142752565C>T	ExAC,TOPMed,gnomAD
RCV000780651	p.Gln197Ter	nonsense	-	NC_000007.14:g.142752565C>T	ClinVar
NCI-TCGA novel	p.Gly198Ser	missense variant	-	NC_000007.14:g.142752868G>A	NCI-TCGA
rs1201496061	p.Gly198Asp	missense variant	-	NC_000007.14:g.142752869G>A	TOPMed
rs1412477456	p.Gly201Arg	missense variant	-	NC_000007.14:g.142752877G>C	TOPMed,gnomAD
rs1288010897	p.Gly201Val	missense variant	-	NC_000007.14:g.142752878G>T	TOPMed,gnomAD
rs199531292	p.Gly202Ala	missense variant	-	NC_000007.14:g.142752881G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1289842951	p.Pro203His	missense variant	-	NC_000007.14:g.142752884C>A	gnomAD
rs758874255	p.Val204Ala	missense variant	-	NC_000007.14:g.142752887T>C	ExAC,TOPMed,gnomAD
RCV000705874	p.Val204Met	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142752886G>A	ClinVar
rs778021503	p.Val205Ile	missense variant	-	NC_000007.14:g.142752889G>A	ExAC,gnomAD
rs747422004	p.Val205Asp	missense variant	-	NC_000007.14:g.142752890T>A	ExAC
rs150930992	p.Cys206Phe	missense variant	-	NC_000007.14:g.142752893G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs781457756	p.Cys206Ser	missense variant	-	NC_000007.14:g.142752892T>A	ExAC,gnomAD
rs150930992	p.Cys206Ser	missense variant	-	NC_000007.14:g.142752893G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs146995038	p.Asn207Lys	missense variant	-	NC_000007.14:g.142752897T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs189270875	p.Gly208Ala	missense variant	-	NC_000007.14:g.142752899G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1282721655	p.Gly208Arg	missense variant	-	NC_000007.14:g.142752898G>A	gnomAD
COSM1086583	p.Gly208Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142752899G>T	NCI-TCGA Cosmic
RCV000472464	p.Gly208Ala	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142752899G>C	ClinVar
rs140793689	p.Gln209Ter	stop gained	-	NC_000007.14:g.142752901C>T	ExAC,TOPMed,gnomAD
rs140793689	p.Gln209Glu	missense variant	-	NC_000007.14:g.142752901C>G	ExAC,TOPMed,gnomAD
rs576596527	p.Gln209Arg	missense variant	-	NC_000007.14:g.142752902A>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Leu210Ile	missense variant	-	NC_000007.14:g.142752904C>A	NCI-TCGA
COSM3634910	p.Gly212Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142752910G>A	NCI-TCGA Cosmic
COSM1699475	p.Gly212Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142752911G>A	NCI-TCGA Cosmic
rs200902389	p.Val213Ile	missense variant	-	NC_000007.14:g.142752913G>A	ExAC,TOPMed,gnomAD
RCV000239335	p.Val213Ile	missense variant	-	NC_000007.14:g.142752913G>A	ClinVar
rs1366495669	p.Ser215Pro	missense variant	-	NC_000007.14:g.142752919T>C	gnomAD
NCI-TCGA novel	p.Ser215Ala	missense variant	-	NC_000007.14:g.142752919T>G	NCI-TCGA
COSM3634911	p.Ser215Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142752920C>T	NCI-TCGA Cosmic
rs1310865247	p.Gly217Ser	missense variant	-	NC_000007.14:g.142752925G>A	TOPMed,gnomAD
rs1554499629	p.GlyAsp217GlyTyr	missense variant	-	NC_000007.14:g.142752927_142752928delinsCT	-
rs199878511	p.Asp218Val	missense variant	-	NC_000007.14:g.142752929A>T	ExAC,TOPMed,gnomAD
RCV000462723	p.Asp218Val	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142752929A>T	ClinVar
rs574391339	p.Asp218Tyr	missense variant	-	NC_000007.14:g.142752928G>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000592280	p.Asp218Tyr	missense variant	-	NC_000007.14:g.142752927_142752928delinsCT	ClinVar
rs574391339	p.Asp218Asn	missense variant	-	NC_000007.14:g.142752928G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000819321	p.Asp218Tyr	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142752927_142752928delinsCT	ClinVar
rs1481112469	p.Cys220Trp	missense variant	-	NC_000007.14:g.142752936T>G	gnomAD
rs757674146	p.Cys220Tyr	missense variant	-	NC_000007.14:g.142752935G>A	ExAC,gnomAD
rs1439609895	p.Lys223Asn	missense variant	-	NC_000007.14:g.142752945G>C	TOPMed,gnomAD
rs1184689147	p.Asn224Lys	missense variant	-	NC_000007.14:g.142752948C>G	TOPMed,gnomAD
rs1355998219	p.Asn224Ser	missense variant	-	NC_000007.14:g.142752947A>G	TOPMed
rs1184689147	p.Asn224Lys	missense variant	-	NC_000007.14:g.142752948C>A	TOPMed,gnomAD
rs541223359	p.Lys225Arg	missense variant	-	NC_000007.14:g.142752950A>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000594431	p.Lys225Arg	missense variant	-	NC_000007.14:g.142752950A>G	ClinVar
NCI-TCGA novel	p.Lys225Glu	missense variant	-	NC_000007.14:g.142752949A>G	NCI-TCGA
rs375871958	p.Lys225Asn	missense variant	-	NC_000007.14:g.142752951G>T	ESP,ExAC,gnomAD
RCV000814171	p.Lys225Arg	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142752950A>G	ClinVar
rs1164573795	p.Pro226Ser	missense variant	-	NC_000007.14:g.142752952C>T	gnomAD
COSM5042587	p.Pro226Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.142752953C>T	NCI-TCGA Cosmic
rs1309672836	p.Tyr229His	missense variant	-	NC_000007.14:g.142752961T>C	gnomAD
rs768590288	p.Thr230Ser	missense variant	-	NC_000007.14:g.142752964A>T	ExAC,gnomAD
rs1445405636	p.Val232Ile	missense variant	-	NC_000007.14:g.142752970G>A	TOPMed,gnomAD
rs1445405636	p.Val232Leu	missense variant	-	NC_000007.14:g.142752970G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Val232Gly	missense variant	-	NC_000007.14:g.142752971T>G	NCI-TCGA
rs1445405636	p.Val232Phe	missense variant	-	NC_000007.14:g.142752970G>T	TOPMed,gnomAD
rs773353079	p.Asn234Lys	missense variant	-	NC_000007.14:g.142752978C>A	ExAC,gnomAD
rs138362833	p.Lys237Asn	missense variant	-	NC_000007.14:g.142752987A>C	ExAC,gnomAD
rs150083974	p.Lys237Glu	missense variant	-	NC_000007.14:g.142752985A>G	ExAC,gnomAD
rs1200820723	p.Trp238Ter	stop gained	-	NC_000007.14:g.142752989G>A	gnomAD
NCI-TCGA novel	p.Lys240Asn	missense variant	-	NC_000007.14:g.142752996G>T	NCI-TCGA
rs141554682	p.Asn241Tyr	missense variant	-	NC_000007.14:g.142752997A>T	ExAC,gnomAD
rs141554682	p.Asn241Asp	missense variant	-	NC_000007.14:g.142752997A>G	ExAC,gnomAD
rs1554499664	p.Ile243Thr	missense variant	-	NC_000007.14:g.142753004T>C	-
rs1204423444	p.Ile243Val	missense variant	-	NC_000007.14:g.142753003A>G	gnomAD
RCV000633999	p.Ile243Thr	missense variant	Hereditary pancreatitis (PCTT)	NC_000007.14:g.142753004T>C	ClinVar
rs762589386	p.Ala244Pro	missense variant	-	NC_000007.14:g.142753006G>C	ExAC,gnomAD
rs763496896	p.Ala244Val	missense variant	-	NC_000007.14:g.142753007C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala245Val	missense variant	-	NC_000007.14:g.142753010C>T	NCI-TCGA
NCI-TCGA novel	p.Asn246Asp	missense variant	-	NC_000007.14:g.142753012A>G	NCI-TCGA
rs757690615	p.Ser247Gly	missense variant	-	NC_000007.14:g.142753015A>G	ExAC,gnomAD
rs1479014593	p.Ser247Ile	missense variant	-	NC_000007.14:g.142753016G>T	gnomAD
rs1168615709	p.Asn2Ser	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790206A>G	TOPMed,gnomAD
rs762980620	p.Asn2His	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790205A>C	ExAC,gnomAD
rs140591237	p.Asn2Lys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790207T>G	ESP,ExAC,TOPMed,gnomAD
rs140591237	p.Asn2Lys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790207T>A	ESP,ExAC,TOPMed,gnomAD
rs374597855	p.Pro3Leu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790209C>T	ExAC,gnomAD
rs767036052	p.Leu4Pro	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790212T>C	ExAC,gnomAD
rs755628827	p.Leu5Pro	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790215T>C	ExAC,TOPMed,gnomAD
rs201027769	p.Thr8Ile	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790224C>T	TOPMed,gnomAD
rs749856663	p.Thr8Ala	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790223A>G	ExAC,TOPMed,gnomAD
rs201027769	p.Thr8Asn	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790224C>A	TOPMed,gnomAD
rs1309860298	p.Phe9Ser	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790227T>C	gnomAD
rs1159821029	p.Val10Met	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790229G>A	TOPMed
rs755460834	p.Val10Ala	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790230T>C	ExAC,gnomAD
rs748442280	p.Ala11Gly	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790233C>G	ExAC,TOPMed,gnomAD
rs1276830284	p.Ala11Thr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790232G>A	TOPMed,gnomAD
rs748442280	p.Ala11Glu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790233C>A	ExAC,TOPMed,gnomAD
rs772363999	p.Ala12Val	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790236C>T	ExAC,TOPMed,gnomAD
rs772363999	p.Ala12Gly	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790236C>G	ExAC,TOPMed,gnomAD
rs773357729	p.Ala13Val	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790239C>T	ExAC,gnomAD
rs747228052	p.Leu14Phe	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790241C>T	ExAC,TOPMed,gnomAD
rs747228052	p.Leu14Val	missense variant	-	CHR_HSCHR7_2_CTG6:g.142790241C>G	ExAC,TOPMed,gnomAD
rs200665515	p.Ala15Gly	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791275C>G	ExAC,TOPMed,gnomAD
rs749319393	p.Ala15Ser	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791274G>T	ExAC,gnomAD
rs749319393	p.Ala15Thr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791274G>A	ExAC,gnomAD
rs202003805	p.Ala16Val	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791278C>T	ExAC,TOPMed,gnomAD
rs770782578	p.Pro17Ala	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791280C>G	ExAC,TOPMed,gnomAD
rs770782578	p.Pro17Ser	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791280C>T	ExAC,TOPMed,gnomAD
rs776401461	p.Pro17Arg	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791281C>G	ExAC,TOPMed,gnomAD
rs776401461	p.Pro17Leu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791281C>T	ExAC,TOPMed,gnomAD
rs776401461	p.Pro17His	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791281C>A	ExAC,TOPMed,gnomAD
rs1186519176	p.Phe18Ser	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791284T>C	TOPMed,gnomAD
rs769369961	p.Asp19Gly	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791287A>G	ExAC,gnomAD
rs1290235881	p.Asp19Glu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791288T>A	TOPMed
rs774895653	p.Asp20Asn	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791289G>A	ExAC,gnomAD
rs1222840668	p.Asp21Tyr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791292G>T	TOPMed,gnomAD
rs1222840668	p.Asp21Asn	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791292G>A	TOPMed,gnomAD
rs1290077635	p.Lys23Ter	stop gained	-	CHR_HSCHR7_2_CTG6:g.142791298A>T	TOPMed,gnomAD
rs774960689	p.Ile24Val	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791301A>G	ExAC,TOPMed,gnomAD
rs774960689	p.Ile24Leu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791301A>C	ExAC,TOPMed,gnomAD
rs768051473	p.Val25Ile	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791304G>A	ExAC,TOPMed,gnomAD
rs768051473	p.Val25Leu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791304G>C	ExAC,TOPMed,gnomAD
rs564368252	p.Val25Ala	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791305T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs753883523	p.Gly26Glu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791308G>A	ExAC,gnomAD
rs766579839	p.Gly26Arg	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791307G>C	ExAC,TOPMed,gnomAD
rs1405433158	p.Tyr28His	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791313T>C	TOPMed
rs772505940	p.Tyr28Ter	stop gained	-	CHR_HSCHR7_2_CTG6:g.142791314dup	ExAC
rs747010881	p.Asn29Lys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791318C>G	ExAC,TOPMed,gnomAD
rs111033566	p.Asn29Thr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791317A>C	ExAC,TOPMed,gnomAD
rs111033566	p.Asn29Ile	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791317A>T	ExAC,TOPMed,gnomAD
rs780969708	p.Cys30Trp	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791321T>G	ExAC
rs1432168030	p.Cys30Ser	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791319T>A	gnomAD
rs1449124096	p.Glu32Gly	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791326A>G	gnomAD
rs1253944625	p.Glu32Asp	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791327G>C	TOPMed
rs1350428784	p.Glu32Lys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791325G>A	gnomAD
rs1286351441	p.Val35Leu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791334G>C	gnomAD
rs1286351441	p.Val35Ile	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791334G>A	gnomAD
rs769459903	p.Pro36Arg	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791338C>G	ExAC,TOPMed,gnomAD
rs775259109	p.Gln38Lys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791343C>A	ExAC,gnomAD
rs775259109	p.Gln38Glu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791343C>G	ExAC,gnomAD
rs768277012	p.Ser40Cys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791350C>G	ExAC,TOPMed,gnomAD
rs768277012	p.Ser40Tyr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791350C>A	ExAC,TOPMed,gnomAD
rs768277012	p.Ser40Phe	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791350C>T	ExAC,TOPMed,gnomAD
rs1207195050	p.Asn42His	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791355A>C	gnomAD
rs1223231582	p.Asn42Ser	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791356A>G	TOPMed
rs1437198196	p.Ser43Phe	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791359C>T	gnomAD
rs773739445	p.Gly44Asp	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791362G>A	ExAC,TOPMed,gnomAD
rs772636606	p.Gly44Ser	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791361G>A	ExAC,gnomAD
rs773739445	p.Gly44Ala	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791362G>C	ExAC,TOPMed,gnomAD
rs1331796325	p.Tyr45Ser	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791365A>C	TOPMed
rs138464021	p.Gly49Asp	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791377G>A	ExAC,TOPMed,gnomAD
rs138464021	p.Gly49Val	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791377G>T	ExAC,TOPMed,gnomAD
rs1368323821	p.Gly50Ser	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791379G>A	TOPMed
rs1166804108	p.Gly50Asp	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791380G>A	gnomAD
rs1415566919	p.Ser51Tyr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791383C>A	gnomAD
rs757218067	p.Leu52Phe	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791385C>T	ExAC,TOPMed,gnomAD
rs757218067	p.Leu52Val	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791385C>G	ExAC,TOPMed,gnomAD
rs149246646	p.Ile53Asn	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791389T>A	ExAC,TOPMed,gnomAD
rs144422014	p.Asn54Ser	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791392A>G	ExAC,TOPMed,gnomAD
rs148440491	p.Asn54Lys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791393C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1365488828	p.Glu55Gln	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791394G>C	TOPMed,gnomAD
rs1338095991	p.Gln56Arg	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791398A>G	gnomAD
rs147366981	p.Gln56Ter	stop gained	-	CHR_HSCHR7_2_CTG6:g.142791397C>T	ExAC,TOPMed,gnomAD
rs147366981	p.Gln56Lys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791397C>A	ExAC,TOPMed,gnomAD
rs778570468	p.Trp57Gly	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791400T>G	ExAC,gnomAD
rs1338646513	p.Trp57Cys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791402G>T	gnomAD
rs1219784204	p.Val58Met	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791403G>A	gnomAD
rs1192452565	p.Val58Gly	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791404T>G	TOPMed
rs1280472573	p.Val59Ile	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791406G>A	gnomAD
rs370761165	p.Ala61Glu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791413C>A	ESP,ExAC,gnomAD
rs149455681	p.Gly62Ala	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791416G>C	ExAC,TOPMed,gnomAD
rs776806418	p.His63Arg	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791419A>G	ExAC,gnomAD
rs1224714031	p.Tyr65His	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791424T>C	gnomAD
rs759809930	p.Lys66Ter	stop gained	-	CHR_HSCHR7_2_CTG6:g.142791427A>T	ExAC,TOPMed,gnomAD
rs765342413	p.Ser67Tyr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791431C>A	ExAC,TOPMed,gnomAD
rs765342413	p.Ser67Phe	missense variant	-	CHR_HSCHR7_2_CTG6:g.142791431C>T	ExAC,TOPMed,gnomAD
rs757111793	p.Arg68His	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792493G>A	ExAC,TOPMed,gnomAD
rs145867820	p.Arg68Cys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792492C>T	ExAC,TOPMed,gnomAD
rs757111793	p.Arg68Leu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792493G>T	ExAC,TOPMed,gnomAD
rs1431688642	p.Ile69Met	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792497C>G	TOPMed
rs1237210606	p.Ile69Asn	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792496T>A	gnomAD
rs745551657	p.Val71Met	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792501G>A	ExAC,gnomAD
rs769266571	p.Arg72Thr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792505G>C	ExAC,TOPMed,gnomAD
rs1248279792	p.Leu73Val	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792507C>G	TOPMed,gnomAD
rs1248279792	p.Leu73Met	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792507C>A	TOPMed,gnomAD
rs1166447807	p.Gly74Ter	stop gained	-	CHR_HSCHR7_2_CTG6:g.142792510G>T	gnomAD
rs779649447	p.Glu75Lys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792513G>A	ExAC,gnomAD
rs1468857521	p.His76Pro	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792517A>C	TOPMed
rs1254878660	p.His76Gln	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792518C>A	TOPMed
rs768255958	p.Ile78Val	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792522A>G	ExAC,gnomAD
rs111033564	p.Glu79Lys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792525G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1179289939	p.Glu79Gly	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792526A>G	TOPMed,gnomAD
rs372411481	p.Gly83Arg	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792537G>A	ESP,ExAC,TOPMed,gnomAD
rs372411481	p.Gly83Arg	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792537G>C	ESP,ExAC,TOPMed,gnomAD
rs372411481	p.Gly83Trp	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792537G>T	ESP,ExAC,TOPMed,gnomAD
rs1385704003	p.Asn84Ile	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792541A>T	TOPMed
rs759654213	p.Glu85Ter	stop gained	-	CHR_HSCHR7_2_CTG6:g.142792543G>T	ExAC,gnomAD
rs759654213	p.Glu85Lys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792543G>A	ExAC,gnomAD
rs146398318	p.Gln86Ter	stop gained	-	CHR_HSCHR7_2_CTG6:g.142792546C>T	ESP,ExAC,TOPMed,gnomAD
rs767354237	p.Phe87Leu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792551C>A	ExAC,gnomAD
rs757132372	p.Phe87Ile	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792549T>A	ExAC,gnomAD
rs1298928593	p.Ile88Phe	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792552A>T	gnomAD
rs1383806868	p.Ile88Asn	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792553T>A	TOPMed,gnomAD
rs199836666	p.Ile88Met	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792554C>G	ExAC,TOPMed
rs755816580	p.Asn89His	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792555A>C	ExAC,TOPMed,gnomAD
rs755816580	p.Asn89Tyr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792555A>T	ExAC,TOPMed,gnomAD
rs779618969	p.Asn89Lys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792557T>A	ExAC,gnomAD
rs1446407497	p.Asn89Ile	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792556A>T	TOPMed
rs755816580	p.Asn89Asp	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792555A>G	ExAC,TOPMed,gnomAD
rs984312649	p.Ala90Val	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792559C>T	TOPMed,gnomAD
rs748678217	p.Ala91Val	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792562C>T	ExAC,gnomAD
rs778549864	p.Ala91Thr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792561G>A	ExAC,gnomAD
rs908729974	p.Lys92Asn	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792566G>C	TOPMed,gnomAD
rs1484477439	p.Ile93Phe	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792567A>T	TOPMed
rs545007137	p.Ile94Met	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792572C>G	1000Genomes,ExAC,gnomAD
rs1461511291	p.Ile94Thr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792571T>C	gnomAD
rs375820192	p.Arg95His	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792574G>A	ESP,ExAC,TOPMed,gnomAD
rs375820192	p.Arg95Pro	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792574G>C	ESP,ExAC,TOPMed,gnomAD
rs201775810	p.Arg95Cys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792573C>T	ExAC,TOPMed,gnomAD
rs201775810	p.Arg95Gly	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792573C>G	ExAC,TOPMed,gnomAD
rs1209409723	p.His96Gln	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792578C>A	TOPMed,gnomAD
rs1268805560	p.His96Tyr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792576C>T	TOPMed
rs765315575	p.Pro97His	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792580C>A	ExAC,TOPMed,gnomAD
rs765315575	p.Pro97Leu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792580C>T	ExAC,TOPMed,gnomAD
rs1297813457	p.Pro97Ser	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792579C>T	TOPMed
rs1407084355	p.Gln98Arg	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792583A>G	gnomAD
rs750348889	p.Gln98Lys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792582C>A	ExAC,TOPMed,gnomAD
rs1454816504	p.Tyr99Cys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792586A>G	gnomAD
rs373659879	p.Tyr99Ter	stop gained	-	CHR_HSCHR7_2_CTG6:g.142792587C>G	ExAC,TOPMed,gnomAD
rs199507985	p.Asp100Asn	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792588G>A	ExAC,TOPMed,gnomAD
rs754618801	p.Lys102Glu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792594A>G	ExAC,TOPMed,gnomAD
rs778568523	p.Lys102Met	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792595A>T	ExAC,TOPMed,gnomAD
rs754618801	p.Lys102Ter	stop gained	-	CHR_HSCHR7_2_CTG6:g.142792594A>T	ExAC,TOPMed,gnomAD
rs1373631104	p.Lys102Asn	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792596G>T	TOPMed
rs778568523	p.Lys102Arg	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792595A>G	ExAC,TOPMed,gnomAD
rs1195251647	p.Thr103Ile	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792598C>T	TOPMed
rs200254850	p.Asn105Asp	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792603A>G	ExAC,gnomAD
rs1264201914	p.Asn105Lys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792605C>A	gnomAD
rs758965932	p.Asp107Gly	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792610A>G	ExAC,gnomAD
rs1323769980	p.Asp107Tyr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792609G>T	gnomAD
rs201165989	p.Met109Leu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792615A>C	ExAC,gnomAD
rs1482612529	p.Met109Thr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792616T>C	gnomAD
rs1426710453	p.Leu113His	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792628T>A	TOPMed,gnomAD
rs606231344	p.Ser115Thr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792633T>A	ExAC,TOPMed,gnomAD
rs199769221	p.Arg116Pro	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792637G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs199769221	p.Arg116His	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792637G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs387906698	p.Arg116Cys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792636C>T	ExAC,TOPMed,gnomAD
rs387906698	p.Arg116Ser	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792636C>A	ExAC,TOPMed,gnomAD
rs199769221	p.Arg116Leu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792637G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1454337017	p.Ala117Ser	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792639G>T	gnomAD
rs766098231	p.Val118Ile	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792642G>A	ExAC,gnomAD
rs753618826	p.Val118Gly	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792643T>G	ExAC,TOPMed,gnomAD
rs753618826	p.Val118Glu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792643T>A	ExAC,TOPMed,gnomAD
rs606231348	p.Asn120Lys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792650C>A	ExAC,TOPMed,gnomAD
rs199422123	p.Ala121Thr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792651G>A	ExAC,TOPMed,gnomAD
rs199422123	p.Ala121Ser	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792651G>T	ExAC,TOPMed,gnomAD
rs111033568	p.Arg122Cys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792654C>T	ESP,ExAC,TOPMed,gnomAD
rs111033568	p.Arg122Gly	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792654C>G	ESP,ExAC,TOPMed,gnomAD
rs111033565	p.Arg122His	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792655G>A	ExAC,gnomAD
rs144403091	p.Val123Met	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792657G>A	ESP,ExAC,TOPMed,gnomAD
rs144403091	p.Val123Leu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792657G>T	ESP,ExAC,TOPMed,gnomAD
rs1484849588	p.Ser124Phe	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792661C>T	gnomAD
rs200976326	p.Thr125Ala	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792663A>G	ExAC,gnomAD
rs749518244	p.Leu128Pro	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792673T>C	ExAC,gnomAD
rs749518244	p.Leu128Gln	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792673T>A	ExAC,gnomAD
rs768673799	p.Pro129His	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792676C>A	ExAC
rs11553845	p.Thr130Ala	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792678A>G	ExAC,gnomAD
rs11553845	p.Thr130Pro	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792678A>C	ExAC,gnomAD
rs141011596	p.Ala131Thr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792681G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141011596	p.Ala131Ser	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792681G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141011596	p.Ala131Pro	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792681G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1453661121	p.Pro132Thr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792684C>A	gnomAD
rs759452330	p.Pro132His	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792685C>A	ExAC,gnomAD
rs752456117	p.Ala134Thr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792690G>A	ExAC,TOPMed,gnomAD
rs1224059005	p.Thr135Asn	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792694C>A	TOPMed,gnomAD
rs199637670	p.Thr135Ala	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792693A>G	ExAC,TOPMed,gnomAD
rs117497341	p.Thr137Met	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792700C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs117497341	p.Thr137Arg	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792700C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749482440	p.Lys138Asn	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792704G>C	ExAC,TOPMed,gnomAD
rs11553849	p.Lys138Glu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792702A>G	ExAC,TOPMed,gnomAD
rs768853338	p.Cys139Ser	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792706G>C	ExAC,gnomAD
rs141847266	p.Cys139Ter	stop gained	-	CHR_HSCHR7_2_CTG6:g.142792707C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs772256079	p.Ile141Met	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792713C>G	ExAC,gnomAD
rs748208676	p.Ile141Asn	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792712T>A	ExAC,TOPMed,gnomAD
rs748208676	p.Ile141Thr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792712T>C	ExAC,TOPMed,gnomAD
rs1164996242	p.Ser142Pro	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792714T>C	TOPMed
rs1164331073	p.Trp144Cys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792722G>T	gnomAD
rs1221038304	p.Gly145Arg	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792723G>C	gnomAD
rs769724683	p.Thr147Asn	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792730C>A	ExAC,gnomAD
rs775290386	p.Ala148Pro	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792732G>C	ExAC,TOPMed,gnomAD
rs762545562	p.Ala148Val	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792733C>T	ExAC,TOPMed,gnomAD
rs762545562	p.Ala148Gly	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792733C>G	ExAC,TOPMed,gnomAD
rs1209417221	p.Ser149Asn	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792736G>A	TOPMed,gnomAD
rs372698855	p.Ser149Arg	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792737C>A	ESP,ExAC,TOPMed,gnomAD
rs1483916222	p.Gly151Arg	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792741G>C	gnomAD
rs770315312	p.Ala152Asp	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793148C>A	ExAC,TOPMed,gnomAD
rs766731858	p.Ala152Thr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142792744G>A	ExAC,TOPMed,gnomAD
rs770315312	p.Ala152Gly	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793148C>G	ExAC,TOPMed,gnomAD
rs61735002	p.Asp153Asn	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793150G>A	ESP,ExAC,TOPMed,gnomAD
rs1321694161	p.Asp153Glu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793152C>A	gnomAD
rs753073310	p.Asp153Gly	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793151A>G	ExAC,gnomAD
rs61735002	p.Asp153His	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793150G>C	ESP,ExAC,TOPMed,gnomAD
rs1199917100	p.Tyr154His	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793153T>C	gnomAD
rs1355136604	p.Pro155Thr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793156C>A	TOPMed
rs1333246826	p.Pro155Arg	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793157C>G	TOPMed
rs146076691	p.Asp156Glu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793161C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200890507	p.Glu157Gln	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793162G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs200890507	p.Glu157Lys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793162G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs754802107	p.Gln159Ter	stop gained	-	CHR_HSCHR7_2_CTG6:g.142793168C>T	ExAC,TOPMed,gnomAD
rs778796800	p.Cys160Tyr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793172G>A	ExAC,TOPMed,gnomAD
rs778796800	p.Cys160Phe	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793172G>T	ExAC,TOPMed,gnomAD
rs1172272446	p.Cys160Arg	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793171T>C	TOPMed
rs1172272446	p.Cys160Gly	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793171T>G	TOPMed
rs777441424	p.Leu161Pro	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793175T>C	ExAC,gnomAD
rs1444451561	p.Leu161Met	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793174C>A	TOPMed
rs777441424	p.Leu161Arg	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793175T>G	ExAC,gnomAD
rs1171452978	p.Asp162His	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793177G>C	gnomAD
rs1248894315	p.Asp162Val	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793178A>T	TOPMed
rs557691366	p.Ala163Thr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793180G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs760120835	p.Pro164Ser	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793183C>T	ExAC,gnomAD
rs760120835	p.Pro164Thr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793183C>A	ExAC,gnomAD
rs202228418	p.Val165Ala	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793187T>C	1000Genomes,ExAC,gnomAD
rs776120935	p.Leu166Pro	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793190T>C	ExAC,gnomAD
rs1232891794	p.Ser167Thr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793193G>C	TOPMed,gnomAD
rs1232891794	p.Ser167Ile	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793193G>T	TOPMed,gnomAD
rs763453065	p.Ser167Arg	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793194C>G	ExAC,gnomAD
rs575283731	p.Gln168Lys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793195C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1222150378	p.Gln168Arg	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793196A>G	gnomAD
rs1367226833	p.Gln168His	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793197G>C	gnomAD
rs1285885738	p.Ala169Thr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793198G>A	gnomAD
rs751892043	p.Ala169Asp	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793199C>A	ExAC,TOPMed,gnomAD
rs750427023	p.Lys170Asn	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793203G>C	ExAC,TOPMed,gnomAD
rs201550522	p.Lys170Glu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793201A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs767634678	p.Lys170Met	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793202A>T	ExAC,gnomAD
rs200973660	p.Cys171Ser	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793205G>C	ExAC,gnomAD
rs200973660	p.Cys171Tyr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793205G>A	ExAC,gnomAD
rs752598739	p.Cys171Ter	stop gained	-	CHR_HSCHR7_2_CTG6:g.142793206T>A	ExAC,gnomAD
rs758254763	p.Glu172Gln	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793207G>C	ExAC,TOPMed,gnomAD
rs758254763	p.Glu172Lys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793207G>A	ExAC,TOPMed,gnomAD
rs1459352387	p.Ala173Ser	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793210G>T	TOPMed
rs777531305	p.Ala173Asp	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793211C>A	ExAC,TOPMed,gnomAD
rs777531305	p.Ala173Gly	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793211C>G	ExAC,TOPMed,gnomAD
rs1473604680	p.Ser174Pro	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793213T>C	TOPMed
rs746669985	p.Ser174Phe	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793214C>T	ExAC,gnomAD
rs756821075	p.Tyr175His	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793216T>C	ExAC,TOPMed,gnomAD
rs756821075	p.Tyr175Asn	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793216T>A	ExAC,TOPMed,gnomAD
rs1468060476	p.Gly177Val	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793223G>T	TOPMed
rs1240508430	p.Gly177Ter	stop gained	-	CHR_HSCHR7_2_CTG6:g.142793222G>T	TOPMed
rs1468060476	p.Gly177Ala	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793223G>C	TOPMed
rs1240508430	p.Gly177Arg	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793222G>A	TOPMed
rs1468060476	p.Gly177Glu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793223G>A	TOPMed
rs267601347	p.Lys178Asn	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793227G>T	ExAC,TOPMed,gnomAD
rs1239083612	p.Lys178Arg	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793226A>G	TOPMed
rs1386024325	p.Ile179Leu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793228A>C	TOPMed,gnomAD
rs1386024325	p.Ile179Val	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793228A>G	TOPMed,gnomAD
rs745420768	p.Thr180Ile	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793232C>T	ExAC,gnomAD
rs201719096	p.Ser181Asn	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793235G>A	ExAC,TOPMed,gnomAD
rs376907511	p.Ser181Gly	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793234A>G	ESP,ExAC,gnomAD
rs1348773645	p.Asn182Lys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793239C>G	TOPMed
rs769160661	p.Asn182Asp	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793237A>G	ExAC,gnomAD
rs762123204	p.Met183Lys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793241T>A	ExAC,TOPMed,gnomAD
rs762123204	p.Met183Thr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793241T>C	ExAC,TOPMed,gnomAD
rs200070487	p.Met183Val	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793240A>G	ExAC,gnomAD
rs1382404555	p.Phe184Val	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793243T>G	TOPMed
rs1382404555	p.Phe184Leu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793243T>C	TOPMed
rs1157690064	p.Val186Met	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793249G>A	TOPMed
rs1250731677	p.Phe188Leu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793257C>G	gnomAD
rs1192281478	p.Phe188Tyr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793256T>A	TOPMed
rs1439241122	p.Leu189Phe	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793258C>T	gnomAD
rs1478010608	p.Leu189Pro	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793259T>C	TOPMed
rs752688735	p.Gly191Arg	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793264G>A	ExAC,gnomAD
rs1185286983	p.Gly192Ser	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793267G>A	gnomAD
rs1366653442	p.Lys193Glu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793270A>G	gnomAD
rs1217657614	p.Asp194Val	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793274A>T	TOPMed
rs763907908	p.Cys196Gly	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793279T>G	ExAC,gnomAD
rs757054367	p.Gln197Ter	stop gained	-	CHR_HSCHR7_2_CTG6:g.142793282C>T	ExAC,TOPMed,gnomAD
rs1201496061	p.Gly198Asp	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793586G>A	TOPMed
rs1412477456	p.Gly201Arg	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793594G>C	TOPMed,gnomAD
rs1288010897	p.Gly201Val	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793595G>T	TOPMed,gnomAD
rs199531292	p.Gly202Ala	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793598G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1289842951	p.Pro203His	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793601C>A	gnomAD
rs758874255	p.Val204Ala	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793604T>C	ExAC,TOPMed,gnomAD
rs778021503	p.Val205Ile	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793606G>A	ExAC,gnomAD
rs747422004	p.Val205Asp	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793607T>A	ExAC
rs150930992	p.Cys206Phe	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793610G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs150930992	p.Cys206Ser	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793610G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs781457756	p.Cys206Ser	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793609T>A	ExAC,gnomAD
rs146995038	p.Asn207Lys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793614T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs189270875	p.Gly208Ala	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793616G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1282721655	p.Gly208Arg	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793615G>A	gnomAD
rs576596527	p.Gln209Arg	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793619A>G	1000Genomes,ExAC,gnomAD
rs140793689	p.Gln209Glu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793618C>G	ExAC,TOPMed,gnomAD
rs140793689	p.Gln209Ter	stop gained	-	CHR_HSCHR7_2_CTG6:g.142793618C>T	ExAC,TOPMed,gnomAD
rs200902389	p.Val213Ile	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793630G>A	ExAC,TOPMed,gnomAD
rs1366495669	p.Ser215Pro	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793636T>C	gnomAD
rs1310865247	p.Gly217Ser	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793642G>A	TOPMed,gnomAD
rs574391339	p.Asp218Asn	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793645G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs199878511	p.Asp218Val	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793646A>T	ExAC,TOPMed,gnomAD
rs574391339	p.Asp218Tyr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793645G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs757674146	p.Cys220Tyr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793652G>A	ExAC,gnomAD
rs1481112469	p.Cys220Trp	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793653T>G	gnomAD
rs1439609895	p.Lys223Asn	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793662G>C	TOPMed,gnomAD
rs1184689147	p.Asn224Lys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793665C>A	TOPMed,gnomAD
rs1355998219	p.Asn224Ser	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793664A>G	TOPMed
rs1184689147	p.Asn224Lys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793665C>G	TOPMed,gnomAD
rs375871958	p.Lys225Asn	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793668G>T	ESP,ExAC,gnomAD
rs541223359	p.Lys225Arg	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793667A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1164573795	p.Pro226Ser	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793669C>T	gnomAD
rs1309672836	p.Tyr229His	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793678T>C	gnomAD
rs768590288	p.Thr230Ser	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793681A>T	ExAC,gnomAD
rs1445405636	p.Val232Ile	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793687G>A	TOPMed,gnomAD
rs1445405636	p.Val232Leu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793687G>C	TOPMed,gnomAD
rs1445405636	p.Val232Phe	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793687G>T	TOPMed,gnomAD
rs773353079	p.Asn234Lys	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793695C>A	ExAC,gnomAD
rs150083974	p.Lys237Glu	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793702A>G	ExAC,gnomAD
rs138362833	p.Lys237Asn	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793704A>C	ExAC,gnomAD
rs1200820723	p.Trp238Ter	stop gained	-	CHR_HSCHR7_2_CTG6:g.142793706G>A	gnomAD
rs141554682	p.Asn241Tyr	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793714A>T	ExAC,gnomAD
rs141554682	p.Asn241Asp	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793714A>G	ExAC,gnomAD
rs1204423444	p.Ile243Val	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793720A>G	gnomAD
rs762589386	p.Ala244Pro	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793723G>C	ExAC,gnomAD
rs763496896	p.Ala244Val	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793724C>T	ExAC,TOPMed,gnomAD
rs757690615	p.Ser247Gly	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793732A>G	ExAC,gnomAD
rs1479014593	p.Ser247Ile	missense variant	-	CHR_HSCHR7_2_CTG6:g.142793733G>T	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000737	Abdominal Pain	phenotype	BEFREE;HPO
C0001339	Acute pancreatitis	disease	BEFREE
C0004565	Melanoma, B16	disease	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0009375	Colonic Neoplasms	group	BEFREE
C0010674	Cystic Fibrosis	disease	BEFREE;RGD
C0011849	Diabetes Mellitus	group	BEFREE;HPO
C0011854	Diabetes Mellitus, Insulin-Dependent	disease	BEFREE;RGD
C0011881	Diabetic Nephropathy	disease	LHGDN
C0015967	Fever	phenotype	HPO
C0019196	Hepatitis C	disease	BEFREE
C0020557	Hypertriglyceridemia	phenotype	BEFREE
C0020639	Hypoproteinemia	disease	HPO
C0021670	insulinoma	disease	BEFREE
C0023518	Leukocytosis	disease	HPO
C0025202	melanoma	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0030293	Pancreatic Insufficiency	disease	HPO
C0030297	Pancreatic Neoplasm	disease	LHGDN
C0030299	Pancreatic Pseudocyst	disease	HPO
C0030305	Pancreatitis	disease	BEFREE;CTD_human;HPO;LHGDN;RGD
C0032227	Pleural effusion disorder	group	HPO
C0032580	Adenomatous Polyposis Coli	disease	BEFREE
C0033578	Prostatic Neoplasms	group	LHGDN
C0036651	Senile lentigo	disease	BEFREE
C0038238	Steatorrhea	phenotype	HPO
C0042900	Vitiligo	disease	BEFREE
C0149521	Pancreatitis, Chronic	disease	BEFREE;CTD_human;HPO;LHGDN
C0162309	Adrenoleukodystrophy	disease	BEFREE
C0162565	Acute intermittent porphyria	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0206180	Ki-1+ Anaplastic Large Cell Lymphoma	disease	BEFREE
C0231246	Failure to gain weight	phenotype	HPO
C0232487	Abdominal discomfort	phenotype	HPO
C0235974	Pancreatic carcinoma	disease	BEFREE
C0238339	Hereditary pancreatitis	disease	BEFREE;CLINVAR;CTD_human;ORPHANET;UNIPROT
C0266270	Pancreas divisum	disease	BEFREE
C0267937	Acute recurrent pancreatitis	disease	BEFREE
C0267963	Exocrine pancreatic insufficiency	disease	HPO
C0268417	Pancreatic trypsinogen deficiency	disease	CTD_human
C0281361	Adenocarcinoma of pancreas	disease	BEFREE
C0341471	Idiopathic chronic pancreatitis	disease	BEFREE
C0345905	Intrahepatic Cholangiocarcinoma	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0376670	Pancreatitis, Alcoholic	disease	BEFREE;GWASCAT
C0456103	Sepsis of the newborn	disease	BEFREE
C0496836	Malignant tumor of eye	disease	BEFREE
C0522070	Pancreatic symptom	phenotype	BEFREE
C0677776	Hereditary Breast and Ovarian Cancer Syndrome	disease	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0687713	Gastrointestinal pain	phenotype	HPO
C0699790	Colon Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0742906	Elevated C-reactive protein	phenotype	HPO
C0747198	pancreatitis idiopathic	disease	BEFREE
C1279945	Acute interstitial pneumonia	disease	BEFREE
C1335302	Pancreatic Ductal Adenocarcinoma	disease	BEFREE
C1527249	Colorectal Cancer	disease	UNIPROT
C1832108	PANCREATITIS, CHRONIC, PROTECTION AGAINST	phenotype	UNIPROT
C1842402	TROPICAL CALCIFIC PANCREATITIS	disease	BEFREE
C1842406	Pancreatic calcification	phenotype	HPO
C1847835	VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	disease	BEFREE
C1868653	Pancreatitis, Calcific	disease	UNIPROT
C1868682	Paroxysmal kinesigenic choreoathetosis	disease	BEFREE
C1969419	PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO	phenotype	UNIPROT
C2315100	Pediatric failure to thrive	disease	HPO
C2609129	Autoimmune pancreatitis	disease	BEFREE
C3665339	Bacterial sepsis of newborn	disease	BEFREE
C4022922	Abnormal enzyme/coenzyme activity	phenotype	HPO
C4023452	Elevated C-reactive protein level	phenotype	HPO
C4025731	Abnormal thrombosis	phenotype	HPO
C4080064	Autosomal Dominant Hereditary Pancreatitis	disease	BEFREE;CTD_human
C4531021	Undergrowth	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004252	serine-type endopeptidase activity	IBA
GO:0004252	serine-type endopeptidase activity	TAS
GO:0046872	metal ion binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006508	proteolysis	IBA
GO:0007586	digestion	IEA
GO:0009235	cobalamin metabolic process	TAS
GO:0022617	extracellular matrix disassembly	TAS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	NAS
GO:0005576	extracellular region	TAS
GO:0005615	extracellular space	IBA
GO:0062023	collagen-containing extracellular matrix	HDA
GO:0072562	blood microparticle	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-1474228	Degradation of the extracellular matrix	TAS
R-HSA-1474244	Extracellular matrix organization	TAS
R-HSA-1592389	Activation of Matrix Metalloproteinases	TAS
R-HSA-196741	Cobalamin (Cbl, vitamin B12) transport and metabolism	TAS
R-HSA-196849	Metabolism of water-soluble vitamins and cofactors	TAS
R-HSA-196854	Metabolism of vitamins and cofactors	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C006718	1,12-benzoperylene	1,12-benzoperylene results in increased expression of PRSS1 mRNA	26377693
C518710	1-3-methylbutyryl-N4-6-aminohexanoyl-piperazine	1-3-methylbutyryl-N4-6-aminohexanoyl-piperazine inhibits the reaction [PRSS1 protein results in increased activity of MPO protein]	30853428
C518710	1-3-methylbutyryl-N4-6-aminohexanoyl-piperazine	1-3-methylbutyryl-N4-6-aminohexanoyl-piperazine inhibits the reaction [PRSS1 protein results in increased expression of IL17A protein]	30853428
C518710	1-3-methylbutyryl-N4-6-aminohexanoyl-piperazine	1-3-methylbutyryl-N4-6-aminohexanoyl-piperazine inhibits the reaction [PRSS1 protein results in increased expression of IL17RA protein]	30853428
D020001	1-Butanol	1-Butanol affects the folding of and affects the activity of PRSS1 protein	25906839
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[2,4,5,2',4',5'-hexachlorobiphenyl co-treated with Diethylnitrosamine] results in increased expression of PRSS1 protein	23457121
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of PRSS1 gene	27153756
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of PRSS1 mRNA	16483693
D000077237	Arsenic Trioxide	Arsenic Trioxide results in increased expression of PRSS1 mRNA	15761015
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of PRSS1 mRNA	26001963
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PRSS1 mRNA	23178640
C006780	bisphenol A	bisphenol A results in decreased expression of PRSS1 mRNA	29458080
C006780	bisphenol A	bisphenol A results in decreased expression of PRSS1 mRNA	26364221
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of PRSS1 mRNA	23178640
D003300	Copper	Copper results in increased activity of PRSS1 protein	24052363
D003300	Copper	Copper deficiency results in increased expression of PRSS1 mRNA	26033743
C029892	cupric chloride	cupric chloride results in decreased expression of PRSS1 mRNA	19174923
D004041	Dietary Fats	Dietary Fats results in decreased expression of PRSS1 mRNA	25016146
D019422	Dietary Sucrose	Dietary Sucrose results in increased expression of PRSS1 mRNA	26033743
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of PRSS1 mRNA	28412506
D004052	Diethylnitrosamine	Diethylnitrosamine results in decreased expression of PRSS1 mRNA	21527772
D004052	Diethylnitrosamine	[2,4,5,2',4',5'-hexachlorobiphenyl co-treated with Diethylnitrosamine] results in increased expression of PRSS1 protein	23457121
C015835	dimethyl-4-toluidine	dimethyl-4-toluidine results in increased expression of PRSS1 mRNA	27638505
D004785	Environmental Pollutants	Environmental Pollutants results in decreased expression of PRSS1 mRNA	25187966
C012154	epofenonane	epofenonane results in increased expression of PRSS1 mRNA	24038158
D000431	Ethanol	Ethanol results in decreased expression of PRSS1 mRNA	29361514
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of PRSS1 mRNA	23129252
C052034	fenoxycarb	fenoxycarb results in increased expression of PRSS1 mRNA	24038158
D019833	Genistein	Genistein results in decreased expression of PRSS1 mRNA	23019147
D008767	Methylmercury Compounds	Methylmercury Compounds results in decreased expression of PRSS1 mRNA	27544571
D008777	Methyltestosterone	Methyltestosterone results in decreased expression of PRSS1 mRNA	29458080
C406082	monomethylarsonous acid	monomethylarsonous acid results in increased expression of PRSS1 protein	24625837
C523799	MRK 003	PRSS1 results in decreased susceptibility to MRK 003	19903844
D009538	Nicotine	Nicotine results in decreased expression of PRSS1 mRNA	16949557
C029341	oxophenylarsine	oxophenylarsine inhibits the reaction [PRSS1 protein results in decreased phosphorylation of and results in increased activity of SRC protein]	11035913
D010416	Pentachlorophenol	Pentachlorophenol results in decreased expression of PRSS1 mRNA	29458080
D010416	Pentachlorophenol	Pentachlorophenol results in decreased expression of PRSS1 mRNA	23178640
C539348	perfluorobutanesulfonic acid	perfluorobutanesulfonic acid results in increased expression of PRSS1 mRNA	30239974
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of PRSS1 protein	23718831
C006068	propylparaben	propylparaben results in decreased expression of PRSS1 mRNA	29458080
D012110	Reserpine	Reserpine results in decreased expression of PRSS1 protein	8625754
D012110	Reserpine	Reserpine results in increased expression of PRSS1 protein	8625754
C459379	SCH 351591	SCH 351591 results in increased expression of PRSS1 mRNA	20585143
D012906	Smoke	Smoke promotes the reaction [SCT protein results in increased secretion of PRSS1 protein]	6156949
C009277	sodium arsenate	sodium arsenate results in decreased expression of PRSS1 mRNA	23922661
C017947	sodium arsenite	sodium arsenite results in decreased expression of PRSS1 mRNA	29301061
C016104	sodium bichromate	sodium bichromate results in decreased expression of PRSS1 mRNA	22561333
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of PRSS1 mRNA	15703262
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of PRSS1 protein	30291989
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of PRSS1 protein	27319396
D014212	Tretinoin	Tretinoin affects the expression of PRSS1 mRNA	18230668
D014241	Trichloroethylene	PRSS1 affects the susceptibility to Trichloroethylene	23994554
D014302	Trinitrobenzenesulfonic Acid	Trinitrobenzenesulfonic Acid results in increased expression of PRSS1 mRNA	17982090
D014874	Water Pollutants, Chemical	Water Pollutants, Chemical results in decreased expression of PRSS1 mRNA	22326570
D015032	Zinc	Zinc results in increased activity of PRSS1 protein	17093223
D015034	Zinc Oxide	Zinc Oxide results in increased activity of PRSS1 protein	17093223

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0106	Calcium
KW-0222	Digestion
KW-0903	Direct protein sequencing
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0378	Hydrolase
KW-0479	Metal-binding
KW-0621	Polymorphism
KW-0645	Protease
KW-1185	Reference proteome
KW-0964	Secreted
KW-0720	Serine protease
KW-0732	Signal
KW-0765	Sulfation
KW-0865	Zymogen

Interpro

InterPro ID	InterPro Term
IPR009003	Peptidase_S1_PA
IPR001314	Peptidase_S1A
IPR001254	Trypsin_dom
IPR018114	TRYPSIN_HIS
IPR033116	TRYPSIN_SER

PROSITE

PROSITE ID	PROSITE Term
PS50240	TRYPSIN_DOM
PS00134	TRYPSIN_HIS
PS00135	TRYPSIN_SER

Pfam

Pfam ID	Pfam Term
PF00089	Trypsin

Gene: PRSS1

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

There is no orthologous record for this gene !

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