CleftGeneDB-Search

Gene: ZEB2

Basic information

Tag	Content
Uniprot ID	A0A1B0GV02
Entrez ID
Genbank protein ID
Genbank nucleotide ID
Ensembl protein ID	ENSP00000490317
Ensembl nucleotide ID	ENSG00000169554
Gene name	Zinc finger E-box-binding homeobox 2
Gene symbol	ZEB2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description
Sequence	MKQPIMADGP RCKRRKQANP RRKNVVNYDN VVDTGSETDE EDKLHIAEDD GIANPLDQET 60 SPASVPNHES SPHVSQALLP REEEEDEIRE GGVEHPWHNN EILQASVDGP EEMKEDYDTM 120 GPEATIQTAI NNGTVKNANC TSDFEEYFAK RKLEERDGHA VSIEEYLQRS DTAIIYPEAP 180 EELSRLGTPE ANGQEENDLP PGTPDAFAQL LTCPYCDRGY KRLTSLKEHI KYRHEKNEEN 240 FSCPLCSYTF AYRTQLERHM VTHKPGTDQH QMLTQGAGNR KFKCTECGKA FKYKHHLKEH 300 LRIHSDSSLG RQLQLLSNQG NVTVILIIIL GEKPYECPNC KKRFSHSGSY SSHISSKKCI 360 GLISVNGRMR NNIKTGSSPN SVSSSPTNSA ITQLRNKLEN GKPLSMSEQT GLLKIKTEPL 420 DFNDYKVLMA THGFSGTSPF MNGGLGATSP LGVHPSAQSP MQHLGVGMEA PLLGFPTMNS 480 NLSEVQKVLQ IVDNTVSRQK MDCKAEEISK LKGYHMKDPC SQPEEQGVTS PNIPPVGLPV 540 VSHNGATKSI IDYTLEKVNE AKACLQSLTT DSRRQISNIK KEKLRTLIDL VTDDKMIENH 600 NISTPFSCQF CKESFPGPIP LHQHERYLCK MNEEIKAVLQ PHENIVPNKA GVFVDNKALL 660 LSSVLSEKGM TSPINPYKDH MSVLKAYYAM NMEPNSDELL KISIAVGLPQ EFVKEWFEQR 720 KVYQYSNSRS PSLERSSKPL APNSNPPTKD SLLPRSPVKP MDSITSPSIA ELHNSVTNCD 780 PPLRLTKPSH FTNIKPVEKL DHSRSNTPSP LNLSSTSSKN SHSSSYTPNS FSSEELQAEP 840 LDLSLPKQMK EPKSIIATKN KTKASSISLD HNSVSSSSEN SDEPLNLTFI KKEFSNSNNL 900 DNKSTNPVFS MNPFSAKPLY TALPPQSAFP PATFMPPVQT SIPGLRPYPG LDQMSFLPHM 960 AYTYPTGAAT FADMQQRRKY QRKQGFQGEL LDGAQDYMSG LDDMTDSDSC LSRKKIKKTE 1020 SGMYACDLCD KTFQKSSSLL RHKYEHTGKR PHQCQICKKA FKHKHHLIEH SRLHSGEKPY 1080 QCDKCGKRFS HSGSYSQHMN HRYSYCKREA EEREAAEREA REKGHLEPTE LLMNRAYLQS 1140 ITPQGYSDSE ERESMPRDGE SEKEHEKEGE DGYGKLGRQD GDEEFEEEEE ESENKSMDTD 1200 PETIRDEEET GDHSMDDSSE DGKMETKSDH EEDNMEDGM 1239

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	ZEB2	102190273	A0A452FGS1			Capra hircus	Prediction	More>>
1:1 ortholog	ZEB2		A0A1B0GV02			Homo sapiens	Prediction	More>>
1:1 ortholog	Zeb2	24136	Q9R0G7	CPO	E14.5	Mus musculus	Publication	More>>
1:1 ortholog	ZEB2	459644	H2QIS9			Pan troglodytes	Prediction	More>>
1:1 ortholog			A0A4X1TCF8			Sus scrofa	Prediction	More>>
1:1 ortholog	Zeb2	311071	E9PTC3			Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs771810629	p.Lys2Asn	missense variant	-	NC_000002.12:g.144517345C>G	ExAC,TOPMed,gnomAD
rs1462176732	p.Lys2Arg	missense variant	-	NC_000002.12:g.144517346T>C	gnomAD
rs149882004	p.Gln3His	missense variant	-	NC_000002.12:g.144517342C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs577362409	p.Pro4Arg	missense variant	-	NC_000002.12:g.144517340G>C	1000Genomes,ExAC,gnomAD
rs146394306	p.Pro4Ala	missense variant	-	NC_000002.12:g.144517341G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs577362409	p.Pro4Leu	missense variant	-	NC_000002.12:g.144517340G>A	1000Genomes,ExAC,gnomAD
rs919196855	p.Ala7Thr	missense variant	-	NC_000002.12:g.144517332C>T	gnomAD
rs755026044	p.Ala7Glu	missense variant	-	NC_000002.12:g.144517331G>T	ExAC,gnomAD
rs1242134764	p.Gly9Asp	missense variant	-	NC_000002.12:g.144517325C>T	TOPMed
rs1383459443	p.Pro10Arg	missense variant	-	NC_000002.12:g.144517322G>C	gnomAD
rs1451219938	p.Pro10Ser	missense variant	-	NC_000002.12:g.144517323G>A	gnomAD
rs1476193985	p.Arg11Pro	missense variant	-	NC_000002.12:g.144517319C>G	TOPMed
rs1380456738	p.Arg11Trp	missense variant	-	NC_000002.12:g.144517320G>A	gnomAD
rs780729047	p.Cys12Tyr	missense variant	-	NC_000002.12:g.144517316C>T	ExAC,gnomAD
rs759024037	p.Arg15His	missense variant	-	NC_000002.12:g.144517307C>T	ExAC,gnomAD
rs201380888	p.Gln17Lys	missense variant	-	NC_000002.12:g.144517302G>T	1000Genomes,ExAC,gnomAD
rs1191751481	p.Ala18Thr	missense variant	-	NC_000002.12:g.144517299C>T	gnomAD
rs1446907846	p.Ala18Val	missense variant	-	NC_000002.12:g.144517298G>A	gnomAD
rs1446907846	p.Ala18Asp	missense variant	-	NC_000002.12:g.144517298G>T	gnomAD
rs967864705	p.Asn19Tyr	missense variant	-	NC_000002.12:g.144517296T>A	TOPMed,gnomAD
rs730881206	p.Pro20Leu	missense variant	-	NC_000002.12:g.144517292G>A	-
rs761120290	p.Tyr28Cys	missense variant	-	NC_000002.12:g.144430017T>C	ExAC,gnomAD
rs1057522155	p.Asn30Ser	missense variant	-	NC_000002.12:g.144430011T>C	-
rs1317216507	p.Val31Ile	missense variant	-	NC_000002.12:g.144430009C>T	gnomAD
rs1460150528	p.Asp33Asn	missense variant	-	NC_000002.12:g.144430003C>T	TOPMed
rs1356439083	p.Thr34Ile	missense variant	-	NC_000002.12:g.144429999G>A	gnomAD
rs1174052187	p.Gly35Ser	missense variant	-	NC_000002.12:g.144429997C>T	gnomAD
rs775762996	p.Glu41Lys	missense variant	-	NC_000002.12:g.144429979C>T	ExAC,gnomAD
rs771719994	p.Lys43Arg	missense variant	-	NC_000002.12:g.144429972T>C	ExAC,gnomAD
rs1162356365	p.His45Arg	missense variant	-	NC_000002.12:g.144429966T>C	TOPMed
rs730881184	p.Ala47Ser	missense variant	-	NC_000002.12:g.144429961C>A	ExAC,TOPMed,gnomAD
rs1457433258	p.Ala47Val	missense variant	-	NC_000002.12:g.144429960G>A	TOPMed
rs773988822	p.Asp49Gly	missense variant	-	NC_000002.12:g.144429954T>C	ExAC,gnomAD
rs749173524	p.Gly51Ser	missense variant	-	NC_000002.12:g.144429949C>T	ExAC,gnomAD
rs1429970357	p.Gly51Val	missense variant	-	NC_000002.12:g.144429948C>A	TOPMed
rs730881185	p.Ala53Asp	missense variant	-	NC_000002.12:g.144429942G>T	-
rs1280380229	p.Asn54Ser	missense variant	-	NC_000002.12:g.144429939T>C	gnomAD
rs1236446530	p.Pro55Leu	missense variant	-	NC_000002.12:g.144429936G>A	gnomAD
rs61750440	p.Leu56Arg	missense variant	-	NC_000002.12:g.144429933A>C	ExAC,TOPMed,gnomAD
rs61750440	p.Leu56Pro	missense variant	-	NC_000002.12:g.144429933A>G	ExAC,TOPMed,gnomAD
rs1357146280	p.Asp57His	missense variant	-	NC_000002.12:g.144429931C>G	TOPMed
rs1306045887	p.Asp57Glu	missense variant	-	NC_000002.12:g.144429929G>T	gnomAD
rs1375255877	p.Gln58His	missense variant	-	NC_000002.12:g.144429926C>G	TOPMed,gnomAD
rs747953453	p.Gln58Arg	missense variant	-	NC_000002.12:g.144429927T>C	ExAC,gnomAD
rs780890592	p.Thr60Met	missense variant	-	NC_000002.12:g.144429921G>A	ExAC,TOPMed,gnomAD
rs778895785	p.Ser61Thr	missense variant	-	NC_000002.12:g.144429918C>G	ExAC,gnomAD
rs535673534	p.Ser61Cys	missense variant	-	NC_000002.12:g.144429919T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1418417685	p.Pro62Leu	missense variant	-	NC_000002.12:g.144429915G>A	gnomAD
rs1282295762	p.Pro66Ala	missense variant	-	NC_000002.12:g.144429904G>C	TOPMed
rs1183158315	p.Glu69Lys	missense variant	-	NC_000002.12:g.144429895C>T	gnomAD
rs754290456	p.Pro72Arg	missense variant	-	NC_000002.12:g.144429885G>C	ExAC
rs767169568	p.Val74Met	missense variant	-	NC_000002.12:g.144429880C>T	ExAC,gnomAD
rs1212334195	p.Gln76Arg	missense variant	-	NC_000002.12:g.144429873T>C	gnomAD
rs1351431658	p.Gln76His	missense variant	-	NC_000002.12:g.144429872T>A	gnomAD
rs1260145954	p.Leu79Ser	missense variant	-	NC_000002.12:g.144429864A>G	gnomAD
rs1239666726	p.Pro80Leu	missense variant	-	NC_000002.12:g.144429861G>A	gnomAD
rs950680235	p.Glu82Asp	missense variant	-	NC_000002.12:g.144429854C>A	TOPMed
rs1318555924	p.Glu83Lys	missense variant	-	NC_000002.12:g.144429853C>T	gnomAD
rs774153758	p.Glu84Ala	missense variant	-	NC_000002.12:g.144429849T>G	ExAC,gnomAD
rs770528613	p.Asp86Gly	missense variant	-	NC_000002.12:g.144429843T>C	ExAC,gnomAD
rs727504228	p.Glu94Ter	stop gained	-	NC_000002.12:g.144429820C>A	-
rs762576009	p.His95Pro	missense variant	-	NC_000002.12:g.144429816T>G	ExAC,gnomAD
rs772898330	p.His95Gln	missense variant	-	NC_000002.12:g.144429815G>T	ExAC,gnomAD
rs1455780012	p.Trp97Cys	missense variant	-	NC_000002.12:g.144429809C>A	gnomAD
rs147603619	p.Asn99Lys	missense variant	-	NC_000002.12:g.144429803G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs150665982	p.Asn99Asp	missense variant	-	NC_000002.12:g.144429805T>C	ESP,ExAC,TOPMed,gnomAD
rs201109457	p.Ile102Phe	missense variant	-	NC_000002.12:g.144429796T>A	ExAC,TOPMed,gnomAD
rs779126949	p.Leu103Gln	missense variant	-	NC_000002.12:g.144429792A>T	ExAC,gnomAD
rs753880265	p.Gln104Lys	missense variant	-	NC_000002.12:g.144429790G>T	ExAC,gnomAD
rs730881207	p.Ala105Val	missense variant	-	NC_000002.12:g.144429786G>A	ExAC,TOPMed,gnomAD
rs730881207	p.Ala105Asp	missense variant	-	NC_000002.12:g.144429786G>T	ExAC,TOPMed,gnomAD
rs730881207	p.Ala105Gly	missense variant	-	NC_000002.12:g.144429786G>C	ExAC,TOPMed,gnomAD
rs1422801950	p.Ser106Pro	missense variant	-	NC_000002.12:g.144429784A>G	gnomAD
rs1217004857	p.Val107Ile	missense variant	-	NC_000002.12:g.144429781C>T	gnomAD
rs1217004857	p.Val107Leu	missense variant	-	NC_000002.12:g.144429781C>A	gnomAD
rs900139874	p.Pro110Ser	missense variant	-	NC_000002.12:g.144429772G>A	TOPMed,gnomAD
rs546106891	p.Glu111Lys	missense variant	-	NC_000002.12:g.144429769C>T	gnomAD
rs1235712414	p.Glu112Ala	missense variant	-	NC_000002.12:g.144424864T>G	gnomAD
rs758065125	p.Met113Thr	missense variant	-	NC_000002.12:g.144424861A>G	ExAC,TOPMed,gnomAD
rs758065125	p.Met113Lys	missense variant	-	NC_000002.12:g.144424861A>T	ExAC,TOPMed,gnomAD
rs750047584	p.Glu115Lys	missense variant	-	NC_000002.12:g.144424856C>T	ExAC,gnomAD
rs764762586	p.Glu115Asp	missense variant	-	NC_000002.12:g.144424854T>G	ExAC,TOPMed,gnomAD
rs761249729	p.Tyr117Cys	missense variant	-	NC_000002.12:g.144424849T>C	ExAC,TOPMed
rs1057522108	p.Tyr117His	missense variant	-	NC_000002.12:g.144424850A>G	-
rs967238222	p.Met120Val	missense variant	-	NC_000002.12:g.144424841T>C	gnomAD
rs1462605720	p.Ala124Val	missense variant	-	NC_000002.12:g.144424828G>A	TOPMed
rs727504227	p.Thr125Met	missense variant	-	NC_000002.12:g.144424825G>A	ExAC,TOPMed,gnomAD
rs1172423244	p.Ile126Thr	missense variant	-	NC_000002.12:g.144424822A>G	gnomAD
rs1440144232	p.Thr128Ile	missense variant	-	NC_000002.12:g.144424816G>A	TOPMed
rs730881187	p.Ala129Thr	missense variant	-	NC_000002.12:g.144424814C>T	ExAC,TOPMed,gnomAD
rs749450311	p.Ala129Val	missense variant	-	NC_000002.12:g.144424813G>A	ExAC,gnomAD
rs773339468	p.Ile130Thr	missense variant	-	NC_000002.12:g.144424810A>G	ExAC,gnomAD
rs1057520175	p.Ile130Val	missense variant	-	NC_000002.12:g.144424811T>C	gnomAD
rs369622877	p.Asn132Ser	missense variant	-	NC_000002.12:g.144424804T>C	ESP,ExAC,TOPMed,gnomAD
rs747578586	p.Thr134Ile	missense variant	-	NC_000002.12:g.144424798G>A	ExAC,gnomAD
rs755817856	p.Lys136Asn	missense variant	-	NC_000002.12:g.144405020C>G	ExAC,gnomAD
rs1370082779	p.Asn137Ser	missense variant	-	NC_000002.12:g.144405018T>C	gnomAD
rs1239830907	p.Thr141Pro	missense variant	-	NC_000002.12:g.144405007T>G	TOPMed
rs780748597	p.Asp143Asn	missense variant	-	NC_000002.12:g.144405001C>T	ExAC,TOPMed,gnomAD
rs754857619	p.Asp143Glu	missense variant	-	NC_000002.12:g.144404999A>C	ExAC,gnomAD
rs1057518371	p.Phe144Ile	missense variant	-	NC_000002.12:g.144404998A>T	gnomAD
rs751531131	p.Phe144Cys	missense variant	-	NC_000002.12:g.144404997A>C	ExAC,TOPMed,gnomAD
rs1372526467	p.Glu146Lys	missense variant	-	NC_000002.12:g.144404992C>T	gnomAD
rs1434660770	p.Phe148Leu	missense variant	-	NC_000002.12:g.144404984A>C	TOPMed,gnomAD
rs758233583	p.Arg151Ser	missense variant	-	NC_000002.12:g.144404975T>G	ExAC,gnomAD
rs1459619968	p.Leu153Pro	missense variant	-	NC_000002.12:g.144404970A>G	TOPMed
rs1389589538	p.Glu155Asp	missense variant	-	NC_000002.12:g.144404963T>A	TOPMed
rs1250217464	p.Arg156His	missense variant	-	NC_000002.12:g.144404961C>T	TOPMed,gnomAD
rs147021269	p.Arg156Cys	missense variant	-	NC_000002.12:g.144404962G>A	ESP,ExAC,TOPMed,gnomAD
rs761041545	p.Asp157Gly	missense variant	-	NC_000002.12:g.144404958T>C	ExAC,gnomAD
rs1232329175	p.Gly158Arg	missense variant	-	NC_000002.12:g.144404956C>G	gnomAD
rs730881188	p.His159Gln	missense variant	-	NC_000002.12:g.144404951A>C	-
rs1449478104	p.Ala160Pro	missense variant	-	NC_000002.12:g.144404950C>G	TOPMed
rs767646648	p.Val161Ile	missense variant	-	NC_000002.12:g.144404947C>T	ExAC,TOPMed,gnomAD
rs767646648	p.Val161Phe	missense variant	-	NC_000002.12:g.144404947C>A	ExAC,TOPMed,gnomAD
rs1346514691	p.Ser162Arg	missense variant	-	NC_000002.12:g.144404942G>T	gnomAD
rs771155056	p.Glu164Lys	missense variant	-	NC_000002.12:g.144404938C>T	ExAC,TOPMed,gnomAD
rs771155056	p.Glu164Gln	missense variant	-	NC_000002.12:g.144404938C>G	ExAC,TOPMed,gnomAD
rs749634655	p.Glu165Asp	missense variant	-	NC_000002.12:g.144404933C>A	ExAC,gnomAD
rs1305979829	p.Glu165Gly	missense variant	-	NC_000002.12:g.144404934T>C	gnomAD
rs1314954470	p.Glu165Lys	missense variant	-	NC_000002.12:g.144404935C>T	gnomAD
rs529828321	p.Tyr166Cys	missense variant	-	NC_000002.12:g.144404931T>C	1000Genomes,ExAC,gnomAD
rs769433211	p.Arg169Cys	missense variant	-	NC_000002.12:g.144404923G>A	ExAC,TOPMed,gnomAD
rs1414304969	p.Arg169Leu	missense variant	-	NC_000002.12:g.144404922C>A	gnomAD
rs1414304969	p.Arg169His	missense variant	-	NC_000002.12:g.144404922C>T	gnomAD
rs747857030	p.Ser170Gly	missense variant	-	NC_000002.12:g.144404920T>C	ExAC,gnomAD
rs780624319	p.Thr172Pro	missense variant	-	NC_000002.12:g.144404914T>G	ExAC,gnomAD
rs140810090	p.Ile174Val	missense variant	-	NC_000002.12:g.144404908T>C	ESP,ExAC,TOPMed,gnomAD
rs1413805307	p.Glu182Ala	missense variant	-	NC_000002.12:g.144404883T>G	gnomAD
rs752377563	p.Arg185His	missense variant	-	NC_000002.12:g.144404874C>T	ExAC,TOPMed,gnomAD
rs752377563	p.Arg185Leu	missense variant	-	NC_000002.12:g.144404874C>A	ExAC,TOPMed,gnomAD
rs755598619	p.Arg185Cys	missense variant	-	NC_000002.12:g.144404875G>A	TOPMed
rs1474117234	p.Leu186Arg	missense variant	-	NC_000002.12:g.144404871A>C	TOPMed
rs780017365	p.Thr188Met	missense variant	-	NC_000002.12:g.144404865G>A	ExAC,gnomAD
rs779549076	p.Asn192Ser	missense variant	-	NC_000002.12:g.144404853T>C	ExAC,TOPMed,gnomAD
rs1470769626	p.Gly193Glu	missense variant	-	NC_000002.12:g.144404850C>T	TOPMed,gnomAD
rs1232863066	p.Gln194Arg	missense variant	-	NC_000002.12:g.144404847T>C	gnomAD
rs982632371	p.Asn197Ser	missense variant	-	NC_000002.12:g.144404838T>C	TOPMed
rs1460080950	p.Thr203Asn	missense variant	-	NC_000002.12:g.144404115G>T	gnomAD
rs1181070035	p.Pro204Ala	missense variant	-	NC_000002.12:g.144404113G>C	gnomAD
rs1437854221	p.Asp205Tyr	missense variant	-	NC_000002.12:g.144404110C>A	gnomAD
rs527679524	p.Gln209Lys	missense variant	-	NC_000002.12:g.144404098G>T	1000Genomes,ExAC,gnomAD
rs1044810482	p.Gln209His	missense variant	-	NC_000002.12:g.144404096T>A	gnomAD
rs755199698	p.Asp217Asn	missense variant	-	NC_000002.12:g.144404074C>T	ExAC,gnomAD
rs755199698	p.Asp217Tyr	missense variant	-	NC_000002.12:g.144404074C>A	ExAC,gnomAD
rs111724246	p.Tyr220Ter	stop gained	-	NC_000002.12:g.144404063G>C	-
rs1231144040	p.Arg222His	missense variant	-	NC_000002.12:g.144404058C>T	TOPMed
rs730881189	p.Arg222Cys	missense variant	-	NC_000002.12:g.144404059G>A	gnomAD
rs1275393702	p.Thr224Ser	missense variant	-	NC_000002.12:g.144404053T>A	TOPMed,gnomAD
rs797046122	p.Ser225Ter	stop gained	-	NC_000002.12:g.144404049G>T	-
rs1224929555	p.Tyr232Cys	missense variant	-	NC_000002.12:g.144404028T>C	TOPMed
rs1303138587	p.Arg233Cys	missense variant	-	NC_000002.12:g.144404026G>A	gnomAD
rs763393578	p.His234Leu	missense variant	-	NC_000002.12:g.144404022T>A	ExAC,gnomAD
rs969978390	p.Glu235Gly	missense variant	-	NC_000002.12:g.144404019T>C	TOPMed
rs1553962069	p.Glu235Lys	missense variant	-	NC_000002.12:g.144404020C>T	-
rs1389277455	p.Ser242Pro	missense variant	-	NC_000002.12:g.144403999A>G	gnomAD
rs1484531426	p.Ser242Phe	missense variant	-	NC_000002.12:g.144403998G>A	TOPMed
rs730881190	p.Pro244Ser	missense variant	-	NC_000002.12:g.144403993G>A	-
rs762142093	p.Cys246Arg	missense variant	-	NC_000002.12:g.144403987A>G	ExAC,gnomAD
rs1478261250	p.Ser247Thr	missense variant	-	NC_000002.12:g.144403983C>G	gnomAD
rs1172921748	p.Ser247Gly	missense variant	-	NC_000002.12:g.144403984T>C	gnomAD
rs1248212141	p.Thr249Met	missense variant	-	NC_000002.12:g.144403977G>A	gnomAD
rs1437414345	p.Ala251Thr	missense variant	-	NC_000002.12:g.144403972C>T	gnomAD
rs760301787	p.Arg253Cys	missense variant	-	NC_000002.12:g.144403966G>A	ExAC,gnomAD
rs745758509	p.Leu256Pro	missense variant	-	NC_000002.12:g.144403956A>G	ExAC,gnomAD
rs730881173	p.Arg258Gln	missense variant	-	NC_000002.12:g.144403950C>T	ExAC,gnomAD
rs398124284	p.Gln269Ter	stop gained	-	NC_000002.12:g.144403918G>A	-
rs1316130059	p.Met272Thr	missense variant	-	NC_000002.12:g.144401300A>G	gnomAD
rs1443908916	p.Thr274Ile	missense variant	-	NC_000002.12:g.144401294G>A	TOPMed
rs587784570	p.Gln275Glu	missense variant	-	NC_000002.12:g.144401292G>C	ExAC,gnomAD
rs587784570	p.Gln275Ter	stop gained	-	NC_000002.12:g.144401292G>A	ExAC,gnomAD
rs369668612	p.Ala277Thr	missense variant	-	NC_000002.12:g.144401286C>T	ESP,ExAC,TOPMed,gnomAD
rs1417261806	p.Asn279Ser	missense variant	-	NC_000002.12:g.144401279T>C	gnomAD
rs773002262	p.Arg280Cys	missense variant	-	NC_000002.12:g.144401277G>A	ExAC
rs1182449763	p.Lys281Arg	missense variant	-	NC_000002.12:g.144401273T>C	gnomAD
rs1240923843	p.Lys283Asn	missense variant	-	NC_000002.12:g.144401266T>A	gnomAD
rs1064793305	p.Lys289Glu	missense variant	-	NC_000002.12:g.144401250T>C	-
rs1210235575	p.Lys289Arg	missense variant	-	NC_000002.12:g.144401249T>C	gnomAD
rs1288535133	p.His295Pro	missense variant	-	NC_000002.12:g.144401231T>G	gnomAD
rs587784571	p.Arg302Ter	stop gained	-	NC_000002.12:g.144401211G>A	-
rs730881174	p.Arg302Gln	missense variant	-	NC_000002.12:g.144401210C>T	-
rs1250305529	p.Leu316Ter	stop gained	-	NC_000002.12:g.144400315A>C	gnomAD
rs767249756	p.Ser317Pro	missense variant	-	NC_000002.12:g.144400313A>G	ExAC
rs1192071199	p.Gln319Arg	missense variant	-	NC_000002.12:g.144400306T>C	gnomAD
rs377681618	p.Asn321Asp	missense variant	-	NC_000002.12:g.144400301T>C	ESP,ExAC,TOPMed,gnomAD
rs773988813	p.Asn321Ser	missense variant	-	NC_000002.12:g.144400300T>C	ExAC,gnomAD
rs374112817	p.Val322Ile	missense variant	-	NC_000002.12:g.144400298C>T	ESP,ExAC,TOPMed,gnomAD
rs374112817	p.Val322Leu	missense variant	-	NC_000002.12:g.144400298C>A	ESP,ExAC,TOPMed,gnomAD
rs370754895	p.Thr323Met	missense variant	-	NC_000002.12:g.144400294G>A	ESP,ExAC,TOPMed,gnomAD
rs370754895	p.Thr323Lys	missense variant	-	NC_000002.12:g.144400294G>T	ESP,ExAC,TOPMed,gnomAD
rs35213774	p.Val324Ala	missense variant	-	NC_000002.12:g.144400291A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776475211	p.Ile325Leu	missense variant	-	NC_000002.12:g.144400289T>G	ExAC,gnomAD
rs1366614318	p.Leu326Phe	missense variant	-	NC_000002.12:g.144400284T>G	gnomAD
rs1294381202	p.Ile329Val	missense variant	-	NC_000002.12:g.144400277T>C	gnomAD
rs772266839	p.Leu330Ser	missense variant	-	NC_000002.12:g.144400273A>G	ExAC,gnomAD
rs1085307638	p.Pro334Ser	missense variant	-	NC_000002.12:g.144400262G>A	-
rs6711223	p.Tyr335Ter	stop gained	-	NC_000002.12:g.144400257G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757310278	p.Cys337Tyr	missense variant	-	NC_000002.12:g.144400252C>T	ExAC,gnomAD
rs730881191	p.His346Pro	missense variant	-	NC_000002.12:g.144400225T>G	-
rs756686919	p.Ser352Leu	missense variant	-	NC_000002.12:g.144400207G>A	ExAC,gnomAD
rs756686919	p.Ser352Ter	stop gained	-	NC_000002.12:g.144400207G>T	ExAC,gnomAD
rs756686919	p.Ser352Trp	missense variant	-	NC_000002.12:g.144400207G>C	ExAC,gnomAD
rs1553961777	p.Lys358Ter	stop gained	-	NC_000002.12:g.144400190T>A	-
rs1483088063	p.Ile360Thr	missense variant	-	NC_000002.12:g.144400183A>G	gnomAD
rs751262430	p.Ile363Phe	missense variant	-	NC_000002.12:g.144400175T>A	ExAC,gnomAD
rs765873248	p.Asn366Ser	missense variant	-	NC_000002.12:g.144400165T>C	ExAC,gnomAD
rs1221169240	p.Gly367Cys	missense variant	-	NC_000002.12:g.144400163C>A	gnomAD
rs786204815	p.Arg368Ter	stop gained	-	NC_000002.12:g.144400160G>A	-
rs746958005	p.Arg368Gln	missense variant	-	NC_000002.12:g.144400159C>T	gnomAD
rs138012464	p.Arg370Lys	missense variant	-	NC_000002.12:g.144400153C>T	ESP,ExAC,TOPMed,gnomAD
rs1307639926	p.Ile373Thr	missense variant	-	NC_000002.12:g.144400144A>G	gnomAD
rs730881175	p.Thr375Ala	missense variant	-	NC_000002.12:g.144400139T>C	-
rs975397942	p.Thr375Met	missense variant	-	NC_000002.12:g.144400138G>A	TOPMed,gnomAD
rs1465933533	p.Ser378Tyr	missense variant	-	NC_000002.12:g.144400129G>T	TOPMed,gnomAD
rs761866469	p.Val382Leu	missense variant	-	NC_000002.12:g.144400118C>G	ExAC
rs1357640279	p.Thr387Ser	missense variant	-	NC_000002.12:g.144400102G>C	TOPMed
rs1417694978	p.Ile391Val	missense variant	-	NC_000002.12:g.144400091T>C	gnomAD
rs1180969206	p.Thr392Asn	missense variant	-	NC_000002.12:g.144400087G>T	TOPMed,gnomAD
rs886041338	p.Gln393Ter	stop gained	-	NC_000002.12:g.144400085G>A	-
rs797046117	p.Leu394Ter	stop gained	-	NC_000002.12:g.144400081A>T	-
rs1290033369	p.Asn396Ile	missense variant	-	NC_000002.12:g.144400075T>A	TOPMed
rs1489720797	p.Lys402Thr	missense variant	-	NC_000002.12:g.144400057T>G	TOPMed
rs371346988	p.Leu404Arg	missense variant	-	NC_000002.12:g.144400051A>C	ESP,ExAC,TOPMed,gnomAD
rs1253287862	p.Met406Val	missense variant	-	NC_000002.12:g.144400046T>C	gnomAD
rs1208678748	p.Thr410Arg	missense variant	-	NC_000002.12:g.144400033G>C	gnomAD
rs1553961748	p.Leu413Phe	missense variant	-	NC_000002.12:g.144400025G>A	-
rs774574101	p.Lys414Gln	missense variant	-	NC_000002.12:g.144400022T>G	ExAC,TOPMed,gnomAD
rs786204805	p.LysThrGluPro416MetThrTerAsnTerUnk	stop gained	-	NC_000002.12:g.144400005_144400015delinsCATTAATTTTAAGTCA	-
rs1212043477	p.Pro419Arg	missense variant	-	NC_000002.12:g.144400006G>C	gnomAD
rs1288005424	p.Leu420Val	missense variant	-	NC_000002.12:g.144400004G>C	gnomAD
rs1190356101	p.Val427Ile	missense variant	-	NC_000002.12:g.144399983C>T	TOPMed
rs754087167	p.Met429Lys	missense variant	-	NC_000002.12:g.144399976A>T	ExAC,gnomAD
rs754087167	p.Met429Thr	missense variant	-	NC_000002.12:g.144399976A>G	ExAC,gnomAD
rs749293331	p.Thr431Ile	missense variant	-	NC_000002.12:g.144399970G>A	ExAC,TOPMed,gnomAD
rs749293331	p.Thr431Lys	missense variant	-	NC_000002.12:g.144399970G>T	ExAC,TOPMed,gnomAD
rs866945160	p.Gly433Glu	missense variant	-	NC_000002.12:g.144399964C>T	gnomAD
rs770190727	p.Gly433Arg	missense variant	-	NC_000002.12:g.144399965C>T	ExAC,gnomAD
rs866945160	p.Gly433Val	missense variant	-	NC_000002.12:g.144399964C>A	gnomAD
rs748682355	p.Phe434Val	missense variant	-	NC_000002.12:g.144399962A>C	ExAC,gnomAD
rs781638086	p.Ser435Asn	missense variant	-	NC_000002.12:g.144399958C>T	ExAC,gnomAD
rs1360446759	p.Pro439Leu	missense variant	-	NC_000002.12:g.144399946G>A	gnomAD
rs755425183	p.Pro439Ser	missense variant	-	NC_000002.12:g.144399947G>A	ExAC,TOPMed,gnomAD
rs755425183	p.Pro439Thr	missense variant	-	NC_000002.12:g.144399947G>T	ExAC,TOPMed,gnomAD
rs142954549	p.Met441Thr	missense variant	-	NC_000002.12:g.144399940A>G	ESP,ExAC,gnomAD
rs141793065	p.Ala447Thr	missense variant	-	NC_000002.12:g.144399923C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749885926	p.Pro450Ser	missense variant	-	NC_000002.12:g.144399914G>A	ExAC,gnomAD
rs201881288	p.Leu451Ile	missense variant	-	NC_000002.12:g.144399911A>T	ESP,ExAC,TOPMed,gnomAD
rs786204807	p.Leu451Ter	stop gained	-	NC_000002.12:g.144399910A>C	-
rs1407094496	p.Gly452Arg	missense variant	-	NC_000002.12:g.144399908C>T	gnomAD
rs1553961730	p.Gly452Val	missense variant	-	NC_000002.12:g.144399907C>A	-
rs730881192	p.Val453Ala	missense variant	-	NC_000002.12:g.144399904A>G	-
rs761671566	p.Val453Ile	missense variant	-	NC_000002.12:g.144399905C>T	ExAC,gnomAD
rs1387279088	p.Pro455Arg	missense variant	-	NC_000002.12:g.144399898G>C	TOPMed
rs753804606	p.Pro455Ser	missense variant	-	NC_000002.12:g.144399899G>A	ExAC,gnomAD
rs1267201464	p.Ser456Thr	missense variant	-	NC_000002.12:g.144399896A>T	gnomAD
rs775773250	p.Ala457Ser	missense variant	-	NC_000002.12:g.144399893C>A	gnomAD
rs775773250	p.Ala457Thr	missense variant	-	NC_000002.12:g.144399893C>T	gnomAD
rs1209628271	p.Gln458Arg	missense variant	-	NC_000002.12:g.144399889T>C	gnomAD
rs1331400530	p.Gln458His	missense variant	-	NC_000002.12:g.144399888C>G	gnomAD
rs1317705599	p.Met461Ile	missense variant	-	NC_000002.12:g.144399879C>T	TOPMed
rs145812868	p.Met461Val	missense variant	-	NC_000002.12:g.144399881T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs760437173	p.Gln462Lys	missense variant	-	NC_000002.12:g.144399878G>T	ExAC,gnomAD
rs1060503991	p.Leu464Val	missense variant	-	NC_000002.12:g.144399872A>C	TOPMed
rs775301918	p.Val466Gly	missense variant	-	NC_000002.12:g.144399865A>C	ExAC,TOPMed,gnomAD
rs1341111083	p.Val466Ile	missense variant	-	NC_000002.12:g.144399866C>T	gnomAD
rs763297068	p.Met468Val	missense variant	-	NC_000002.12:g.144399860T>C	ExAC,gnomAD
rs1359110374	p.Ala470Thr	missense variant	-	NC_000002.12:g.144399854C>T	TOPMed
rs1435380197	p.Pro471Ser	missense variant	-	NC_000002.12:g.144399851G>A	gnomAD
rs1390459414	p.Leu473Phe	missense variant	-	NC_000002.12:g.144399845G>A	gnomAD
rs781770369	p.Thr477Ala	missense variant	-	NC_000002.12:g.144399833T>C	ExAC,TOPMed,gnomAD
rs919014269	p.Met478Arg	missense variant	-	NC_000002.12:g.144399829A>C	TOPMed
rs1447536167	p.Asn481Ser	missense variant	-	NC_000002.12:g.144399820T>C	gnomAD
rs747347956	p.Val485Leu	missense variant	-	NC_000002.12:g.144399809C>A	ExAC,gnomAD
rs398124274	p.Gln486Ter	stop gained	-	NC_000002.12:g.144399806G>A	-
rs780523431	p.Lys487Asn	missense variant	-	NC_000002.12:g.144399801C>G	ExAC,TOPMed,gnomAD
rs780523431	p.Lys487Asn	missense variant	-	NC_000002.12:g.144399801C>A	ExAC,TOPMed,gnomAD
rs1265589762	p.Val492Ala	missense variant	-	NC_000002.12:g.144399787A>G	gnomAD
rs1443743088	p.Asp493Glu	missense variant	-	NC_000002.12:g.144399783G>T	TOPMed
rs1267261033	p.Val496Ala	missense variant	-	NC_000002.12:g.144399775A>G	gnomAD
rs1451887201	p.Ser497Cys	missense variant	-	NC_000002.12:g.144399772G>C	TOPMed
rs1158068939	p.Arg498Lys	missense variant	-	NC_000002.12:g.144399769C>T	TOPMed
rs1017075985	p.Lys500Arg	missense variant	-	NC_000002.12:g.144399763T>C	TOPMed
rs1342002735	p.Met501Thr	missense variant	-	NC_000002.12:g.144399760A>G	gnomAD
rs778246270	p.Met501Leu	missense variant	-	NC_000002.12:g.144399761T>G	ExAC,gnomAD
rs756778602	p.Cys503Trp	missense variant	-	NC_000002.12:g.144399753G>C	ExAC,gnomAD
rs143854197	p.Ala505Pro	missense variant	-	NC_000002.12:g.144399749C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143854197	p.Ala505Ser	missense variant	-	NC_000002.12:g.144399749C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs13017697	p.Ala505Asp	missense variant	-	NC_000002.12:g.144399748G>T	TOPMed
rs13017697	p.Ala505Val	missense variant	-	NC_000002.12:g.144399748G>A	TOPMed
rs763985342	p.Glu506Gly	missense variant	-	NC_000002.12:g.144399745T>C	ExAC,gnomAD
rs886043609	p.Glu507Asp	missense variant	-	NC_000002.12:g.144399741T>G	-
rs886041698	p.Ser509Ter	stop gained	-	NC_000002.12:g.144399736G>T	-
rs1382650872	p.Leu511Ser	missense variant	-	NC_000002.12:g.144399730A>G	TOPMed
rs752424029	p.Lys512Thr	missense variant	-	NC_000002.12:g.144399727T>G	ExAC,gnomAD
rs1392383826	p.Gly513Ser	missense variant	-	NC_000002.12:g.144399725C>T	TOPMed
rs1553961705	p.Tyr514Ter	stop gained	-	NC_000002.12:g.144399720A>T	-
rs1294703110	p.Met516Leu	missense variant	-	NC_000002.12:g.144399716T>A	TOPMed,gnomAD
rs144952836	p.Pro519Ser	missense variant	-	NC_000002.12:g.144399707G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1266955179	p.Pro519Arg	missense variant	-	NC_000002.12:g.144399706G>C	TOPMed
rs200378546	p.Gln522His	missense variant	-	NC_000002.12:g.144399696T>G	1000Genomes,ExAC,gnomAD
rs1553961702	p.Gln522Ter	stop gained	-	NC_000002.12:g.144399698G>A	-
rs776893119	p.Pro523Ser	missense variant	-	NC_000002.12:g.144399695G>A	ExAC,gnomAD
rs769283637	p.Glu524Lys	missense variant	-	NC_000002.12:g.144399692C>T	ExAC,gnomAD
rs1203180157	p.Val528Phe	missense variant	-	NC_000002.12:g.144399680C>A	TOPMed,gnomAD
rs1203180157	p.Val528Ile	missense variant	-	NC_000002.12:g.144399680C>T	TOPMed,gnomAD
rs747529847	p.Thr529Ala	missense variant	-	NC_000002.12:g.144399677T>C	ExAC,gnomAD
rs1460802107	p.Ile533Asn	missense variant	-	NC_000002.12:g.144399664A>T	TOPMed
rs1051563603	p.Pro534Arg	missense variant	-	NC_000002.12:g.144399661G>C	TOPMed,gnomAD
rs1051563603	p.Pro534Leu	missense variant	-	NC_000002.12:g.144399661G>A	TOPMed,gnomAD
rs141781307	p.Gly537Ser	missense variant	-	NC_000002.12:g.144399653C>T	ESP,ExAC,gnomAD
rs141781307	p.Gly537Cys	missense variant	-	NC_000002.12:g.144399653C>A	ESP,ExAC,gnomAD
rs1302932819	p.Pro539Leu	missense variant	-	NC_000002.12:g.144399646G>A	gnomAD
rs1181298165	p.Pro539Thr	missense variant	-	NC_000002.12:g.144399647G>T	TOPMed
rs777325391	p.Val541Leu	missense variant	-	NC_000002.12:g.144399641C>G	ExAC,gnomAD
rs755990409	p.His543Arg	missense variant	-	NC_000002.12:g.144399634T>C	ExAC,TOPMed,gnomAD
rs1399803326	p.Gly545Asp	missense variant	-	NC_000002.12:g.144399628C>T	TOPMed,gnomAD
rs1399803326	p.Gly545Val	missense variant	-	NC_000002.12:g.144399628C>A	TOPMed,gnomAD
rs730881193	p.Thr547Ser	missense variant	-	NC_000002.12:g.144399622G>C	gnomAD
rs767181131	p.Asn559Ile	missense variant	-	NC_000002.12:g.144399586T>A	ExAC,TOPMed,gnomAD
rs767181131	p.Asn559Ser	missense variant	-	NC_000002.12:g.144399586T>C	ExAC,TOPMed,gnomAD
rs1439256167	p.Ala563Val	missense variant	-	NC_000002.12:g.144399574G>A	gnomAD
rs1345718927	p.Cys564Tyr	missense variant	-	NC_000002.12:g.144399571C>T	TOPMed
rs1472332600	p.Asp571Val	missense variant	-	NC_000002.12:g.144399550T>A	gnomAD
rs754823896	p.Asp571Asn	missense variant	-	NC_000002.12:g.144399551C>T	ExAC,gnomAD
rs137852980	p.Arg574Ter	stop gained	-	NC_000002.12:g.144399542T>A	gnomAD
rs1441120961	p.Ser577Asn	missense variant	-	NC_000002.12:g.144399532C>T	TOPMed,gnomAD
rs765528219	p.Ile579Val	missense variant	-	NC_000002.12:g.144399527T>C	ExAC,gnomAD
rs776792424	p.Lys583Arg	missense variant	-	NC_000002.12:g.144399514T>C	ExAC,TOPMed,gnomAD
rs370504406	p.Arg585His	missense variant	-	NC_000002.12:g.144399508C>T	ESP,ExAC,TOPMed,gnomAD
rs730881194	p.Arg585Cys	missense variant	-	NC_000002.12:g.144399509G>A	ExAC,TOPMed,gnomAD
rs730881195	p.Thr586Ala	missense variant	-	NC_000002.12:g.144399506T>C	ExAC,gnomAD
rs746211840	p.Asp589Asn	missense variant	-	NC_000002.12:g.144399497C>T	ExAC,TOPMed,gnomAD
rs1333425873	p.Leu590Phe	missense variant	-	NC_000002.12:g.144399492C>A	gnomAD
rs1204140022	p.Thr592Ile	missense variant	-	NC_000002.12:g.144399487G>A	TOPMed
rs1269927865	p.Asp594Gly	missense variant	-	NC_000002.12:g.144399481T>C	TOPMed
rs770555715	p.Ile597Val	missense variant	-	NC_000002.12:g.144399473T>C	ExAC,gnomAD
rs1410662103	p.Asn599Lys	missense variant	-	NC_000002.12:g.144399465G>T	TOPMed,gnomAD
rs1197446334	p.His600Arg	missense variant	-	NC_000002.12:g.144399463T>C	TOPMed
rs748955225	p.Asn601Ser	missense variant	-	NC_000002.12:g.144399460T>C	ExAC,TOPMed,gnomAD
rs140593583	p.Thr604Ala	missense variant	-	NC_000002.12:g.144399452T>C	ESP,ExAC,TOPMed,gnomAD
rs786204808	p.Cys608Ter	stop gained	-	NC_000002.12:g.144399438G>T	-
rs1471841333	p.Lys612Glu	missense variant	-	NC_000002.12:g.144399428T>C	gnomAD
rs755652778	p.Glu613Gly	missense variant	-	NC_000002.12:g.144399424T>C	ExAC,gnomAD
rs1188832847	p.Arg626Pro	missense variant	-	NC_000002.12:g.144399385C>G	gnomAD
rs1553961660	p.Tyr627Ter	stop gained	-	NC_000002.12:g.144399381G>C	-
rs1461836285	p.Met631Leu	missense variant	-	NC_000002.12:g.144399371T>A	TOPMed
rs781171719	p.Glu633Lys	missense variant	-	NC_000002.12:g.144399365C>T	ExAC,gnomAD
rs1553961655	p.Glu634Ter	stop gained	-	NC_000002.12:g.144399362C>A	-
rs1206446041	p.Ala637Val	missense variant	-	NC_000002.12:g.144399352G>A	gnomAD
rs757485792	p.Gln640His	missense variant	-	NC_000002.12:g.144399342C>A	ExAC,gnomAD
rs1448603705	p.His642Arg	missense variant	-	NC_000002.12:g.144399337T>C	TOPMed,gnomAD
rs374705196	p.Ile645Thr	missense variant	-	NC_000002.12:g.144399328A>G	ESP,TOPMed
rs760782001	p.Ile645Val	missense variant	-	NC_000002.12:g.144399329T>C	ExAC,gnomAD
rs1192746481	p.Asn648Ser	missense variant	-	NC_000002.12:g.144399319T>C	gnomAD
rs1487453001	p.Asn648Lys	missense variant	-	NC_000002.12:g.144399318G>T	TOPMed,gnomAD
rs794727923	p.Gly651Glu	missense variant	-	NC_000002.12:g.144399310C>T	gnomAD
rs727504224	p.Gly651Arg	missense variant	-	NC_000002.12:g.144399311C>T	ExAC,TOPMed,gnomAD
rs727504224	p.Gly651Ter	stop gained	-	NC_000002.12:g.144399311C>A	ExAC,TOPMed,gnomAD
rs730881176	p.Val652Asp	missense variant	-	NC_000002.12:g.144399307A>T	gnomAD
rs730881176	p.Val652Gly	missense variant	-	NC_000002.12:g.144399307A>C	gnomAD
rs760017521	p.Phe653Ser	missense variant	-	NC_000002.12:g.144399304A>G	ExAC,gnomAD
rs1413108582	p.Val654Phe	missense variant	-	NC_000002.12:g.144399302C>A	gnomAD
rs1413108582	p.Val654Leu	missense variant	-	NC_000002.12:g.144399302C>G	gnomAD
rs771291597	p.Asn656Ser	missense variant	-	NC_000002.12:g.144399295T>C	ExAC,gnomAD
rs772874556	p.Leu659Pro	missense variant	-	NC_000002.12:g.144399286A>G	ExAC
rs1486214432	p.Leu660Arg	missense variant	-	NC_000002.12:g.144399283A>C	TOPMed
rs769385296	p.Leu661Phe	missense variant	-	NC_000002.12:g.144399279C>A	ExAC,gnomAD
rs1248303369	p.Ser662Pro	missense variant	-	NC_000002.12:g.144399278A>G	gnomAD
rs780637261	p.Val664Ala	missense variant	-	NC_000002.12:g.144399271A>G	ExAC,gnomAD
rs747667101	p.Val664Leu	missense variant	-	NC_000002.12:g.144399272C>A	ExAC,TOPMed,gnomAD
rs747667101	p.Val664Leu	missense variant	-	NC_000002.12:g.144399272C>G	ExAC,TOPMed,gnomAD
rs1217656752	p.Ser666Pro	missense variant	-	NC_000002.12:g.144399266A>G	TOPMed,gnomAD
rs370315351	p.Lys668Arg	missense variant	-	NC_000002.12:g.144399259T>C	ESP,ExAC,TOPMed,gnomAD
rs746922285	p.Met670Val	missense variant	-	NC_000002.12:g.144399254T>C	ExAC,gnomAD
rs730881177	p.Ile674Leu	missense variant	-	NC_000002.12:g.144399242T>G	-
rs1057520817	p.Asn675Thr	missense variant	-	NC_000002.12:g.144399238T>G	-
rs1295293400	p.Tyr677His	missense variant	-	NC_000002.12:g.144399233A>G	gnomAD
rs1387402564	p.Lys678Arg	missense variant	-	NC_000002.12:g.144399229T>C	TOPMed
rs1302375228	p.Lys678Glu	missense variant	-	NC_000002.12:g.144399230T>C	gnomAD
rs750288966	p.Asp679Glu	missense variant	-	NC_000002.12:g.144399225G>T	ExAC,gnomAD
rs1290881093	p.His680Gln	missense variant	-	NC_000002.12:g.144399222G>C	gnomAD
rs1426184201	p.Met681Val	missense variant	-	NC_000002.12:g.144399221T>C	TOPMed
rs778110458	p.Met681Thr	missense variant	-	NC_000002.12:g.144399220A>G	ExAC,gnomAD
rs1349377681	p.Val683Ala	missense variant	-	NC_000002.12:g.144399214A>G	gnomAD
rs1426614055	p.Ala686Gly	missense variant	-	NC_000002.12:g.144399205G>C	gnomAD
rs1388932284	p.Met690Val	missense variant	-	NC_000002.12:g.144399194T>C	gnomAD
rs772848092	p.Met692Val	missense variant	-	NC_000002.12:g.144399188T>C	ExAC,gnomAD
rs772848092	p.Met692Leu	missense variant	-	NC_000002.12:g.144399188T>A	ExAC,gnomAD
rs767506087	p.Glu693Asp	missense variant	-	NC_000002.12:g.144399183C>A	ExAC,TOPMed,gnomAD
rs1030170615	p.Asp697Asn	missense variant	-	NC_000002.12:g.144399173C>T	TOPMed,gnomAD
rs1274843979	p.Leu700Pro	missense variant	-	NC_000002.12:g.144399163A>G	gnomAD
rs1290102590	p.Ile704Asn	missense variant	-	NC_000002.12:g.144399151A>T	TOPMed
rs1553961598	p.AlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProAsn705AlaValGlyLeuProGlnGluPheValLysGluTrpPheGluGlnArgLysValTyrGlnTyrSerAsnSerArgSerProSerLeuGluArgSerSerLysProLeuAlaProSerCysGlyProSerSerGlyIleCysGluGlyMetValTerThrThrLysSerLeuProValLeuLysPheGlnValProIleProGlyLysLysLeuGlnAlaValSerSerGlnUnk	stop gained	-	NC_000002.12:g.144399035_144399149dup	-
rs769486815	p.Val706Met	missense variant	-	NC_000002.12:g.144399146C>T	ExAC,gnomAD
rs1217706786	p.Trp716Cys	missense variant	-	NC_000002.12:g.144399114C>A	gnomAD
rs1553961610	p.Trp716Ter	stop gained	-	NC_000002.12:g.144399115C>T	-
rs137852981	p.Arg720Ter	stop gained	-	NC_000002.12:g.144399104G>A	-
rs147693839	p.Arg720Gln	missense variant	-	NC_000002.12:g.144399103C>T	ESP,ExAC,TOPMed,gnomAD
rs780113721	p.Tyr723Cys	missense variant	-	NC_000002.12:g.144399094T>C	ExAC,gnomAD
rs1057518156	p.Tyr725Ter	stop gained	-	NC_000002.12:g.144399087G>C	-
rs1430909297	p.Ser726Thr	missense variant	-	NC_000002.12:g.144399086A>T	gnomAD
rs1361274533	p.Ser730Ala	missense variant	-	NC_000002.12:g.144399074A>C	TOPMed
rs1244099058	p.Ser732Thr	missense variant	-	NC_000002.12:g.144399068A>T	TOPMed
rs1174325176	p.Ser732Phe	missense variant	-	NC_000002.12:g.144399067G>A	gnomAD
rs1432950265	p.Ser737Pro	missense variant	-	NC_000002.12:g.144399053A>G	gnomAD
rs112581563	p.Pro739Leu	missense variant	-	NC_000002.12:g.144399046G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1240429329	p.Pro746Leu	missense variant	-	NC_000002.12:g.144399025G>A	TOPMed
rs1464848342	p.Lys749Glu	missense variant	-	NC_000002.12:g.144399017T>C	TOPMed
rs1248940289	p.Asp750Gly	missense variant	-	NC_000002.12:g.144399013T>C	gnomAD
rs1181377412	p.Pro754Leu	missense variant	-	NC_000002.12:g.144399001G>A	gnomAD
rs144154908	p.Pro760Ser	missense variant	-	NC_000002.12:g.144398984G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1060500654	p.ProMet760ProVal	missense variant	-	NC_000002.12:g.144398981_144398982delinsCG	-
rs748324511	p.Pro760Arg	missense variant	-	NC_000002.12:g.144398983G>C	ExAC,gnomAD
rs139191491	p.Met761Val	missense variant	-	NC_000002.12:g.144398981T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1348740028	p.Ser763Pro	missense variant	-	NC_000002.12:g.144398975A>G	gnomAD
rs1287731625	p.Ser763Phe	missense variant	-	NC_000002.12:g.144398974G>A	gnomAD
rs730881178	p.Ile764Val	missense variant	-	NC_000002.12:g.144398972T>C	ExAC,TOPMed,gnomAD
rs766844554	p.Thr765Ile	missense variant	-	NC_000002.12:g.144398968G>A	ExAC,gnomAD
rs1176753378	p.Ile769Thr	missense variant	-	NC_000002.12:g.144398956A>G	gnomAD
rs112005830	p.Ile769Val	missense variant	-	NC_000002.12:g.144398957T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1160664411	p.Leu772Phe	missense variant	-	NC_000002.12:g.144398948G>A	TOPMed
rs730881196	p.Ser775Gly	missense variant	-	NC_000002.12:g.144398939T>C	ExAC,TOPMed,gnomAD
rs143438888	p.Thr777Met	missense variant	-	NC_000002.12:g.144398932G>A	ESP,ExAC,TOPMed,gnomAD
rs143438888	p.Thr777Arg	missense variant	-	NC_000002.12:g.144398932G>C	ESP,ExAC,TOPMed,gnomAD
rs1482818663	p.Asn778Asp	missense variant	-	NC_000002.12:g.144398930T>C	gnomAD
rs745811811	p.Cys779Phe	missense variant	-	NC_000002.12:g.144398926C>A	ExAC,gnomAD
rs774127506	p.Asp780Val	missense variant	-	NC_000002.12:g.144398923T>A	ExAC,TOPMed
rs1197498677	p.Pro782Arg	missense variant	-	NC_000002.12:g.144398917G>C	TOPMed,gnomAD
rs1327269796	p.Leu783Pro	missense variant	-	NC_000002.12:g.144398914A>G	gnomAD
rs748354087	p.Arg784Gly	missense variant	-	NC_000002.12:g.144398912T>C	ExAC,TOPMed,gnomAD
rs867243713	p.Thr786Ser	missense variant	-	NC_000002.12:g.144398906T>A	-
rs1311266667	p.Pro788Leu	missense variant	-	NC_000002.12:g.144398899G>A	gnomAD
rs1395904812	p.His790Tyr	missense variant	-	NC_000002.12:g.144398894G>A	TOPMed,gnomAD
rs1395904812	p.His790Asn	missense variant	-	NC_000002.12:g.144398894G>T	TOPMed,gnomAD
rs755233964	p.Thr792Ile	missense variant	-	NC_000002.12:g.144398887G>A	ExAC,TOPMed,gnomAD
rs1380361690	p.Thr792Ala	missense variant	-	NC_000002.12:g.144398888T>C	gnomAD
rs1433336470	p.Asn793Ser	missense variant	-	NC_000002.12:g.144398884T>C	gnomAD
rs1157918568	p.Pro796Ser	missense variant	-	NC_000002.12:g.144398876G>A	gnomAD
rs780169349	p.Val797Ala	missense variant	-	NC_000002.12:g.144398872A>G	ExAC,gnomAD
rs1553961558	p.Asp801Gly	missense variant	-	NC_000002.12:g.144398860T>C	-
rs758848641	p.Asp801Glu	missense variant	-	NC_000002.12:g.144398859G>C	ExAC,gnomAD
rs587784564	p.His802Tyr	missense variant	-	NC_000002.12:g.144398858G>A	gnomAD
rs587784564	p.His802Asn	missense variant	-	NC_000002.12:g.144398858G>T	gnomAD
rs1162632837	p.Arg804Lys	missense variant	-	NC_000002.12:g.144398851C>T	gnomAD
rs750936389	p.Asn806Ser	missense variant	-	NC_000002.12:g.144398845T>C	ExAC,TOPMed,gnomAD
rs730881197	p.Ser814Pro	missense variant	-	NC_000002.12:g.144398822A>G	ExAC,TOPMed,gnomAD
rs763645204	p.Ser815Thr	missense variant	-	NC_000002.12:g.144398819A>T	ExAC,gnomAD
rs760462459	p.Thr816Ile	missense variant	-	NC_000002.12:g.144398815G>A	ExAC,gnomAD
rs759505392	p.Asn820Lys	missense variant	-	NC_000002.12:g.144398802G>C	ExAC,TOPMed,gnomAD
rs201227541	p.His822Arg	missense variant	-	NC_000002.12:g.144398797T>C	ExAC,TOPMed,gnomAD
rs770951243	p.Phe831Leu	missense variant	-	NC_000002.12:g.144398769G>T	ExAC,TOPMed,gnomAD
rs749005116	p.Glu834Val	missense variant	-	NC_000002.12:g.144398761T>A	ExAC,TOPMed,gnomAD
rs773130605	p.Glu835Asp	missense variant	-	NC_000002.12:g.144398757C>A	ExAC,gnomAD
rs768856831	p.Gln837His	missense variant	-	NC_000002.12:g.144398751C>A	ExAC,gnomAD
rs1553961536	p.Met849Thr	missense variant	-	NC_000002.12:g.144398716A>G	-
rs1165356349	p.Met849Val	missense variant	-	NC_000002.12:g.144398717T>C	gnomAD
rs1446211072	p.Glu851Asp	missense variant	-	NC_000002.12:g.144398709T>A	gnomAD
rs780045123	p.Pro852Ser	missense variant	-	NC_000002.12:g.144398708G>A	ExAC,TOPMed,gnomAD
rs730881198	p.Ser854Asn	missense variant	-	NC_000002.12:g.144398701C>T	-
rs1389263951	p.Ile855Val	missense variant	-	NC_000002.12:g.144398699T>C	gnomAD
rs746006843	p.Ile856Thr	missense variant	-	NC_000002.12:g.144398695A>G	ExAC,gnomAD
rs730881179	p.Ala857Asp	missense variant	-	NC_000002.12:g.144398692G>T	-
rs1490526407	p.Thr858Ala	missense variant	-	NC_000002.12:g.144398690T>C	gnomAD
rs779252689	p.Thr862Ile	missense variant	-	NC_000002.12:g.144398677G>A	ExAC,TOPMed,gnomAD
rs1350075073	p.Ala864Thr	missense variant	-	NC_000002.12:g.144398672C>T	TOPMed
rs757845450	p.Ala864Gly	missense variant	-	NC_000002.12:g.144398671G>C	ExAC,gnomAD
rs1341937761	p.Ser865Asn	missense variant	-	NC_000002.12:g.144398668C>T	TOPMed,gnomAD
rs1341937761	p.Ser865Thr	missense variant	-	NC_000002.12:g.144398668C>G	TOPMed,gnomAD
rs778296261	p.Ser868Ile	missense variant	-	NC_000002.12:g.144398659C>A	ExAC,gnomAD
rs941735597	p.Leu869Phe	missense variant	-	NC_000002.12:g.144398655T>G	TOPMed
rs755758539	p.Asp870Tyr	missense variant	-	NC_000002.12:g.144398654C>A	ExAC,gnomAD
rs557767273	p.His871Gln	missense variant	-	NC_000002.12:g.144398649A>T	1000Genomes,ExAC,gnomAD
rs1298733880	p.Asn872Ser	missense variant	-	NC_000002.12:g.144398647T>C	gnomAD
rs759097498	p.Asn872Lys	missense variant	-	NC_000002.12:g.144398646G>T	ExAC,TOPMed,gnomAD
rs751120645	p.Ser875Pro	missense variant	-	NC_000002.12:g.144398639A>G	ExAC,gnomAD
rs529220318	p.Ser875Phe	missense variant	-	NC_000002.12:g.144398638G>A	1000Genomes,ExAC,gnomAD
rs529220318	p.Ser875Tyr	missense variant	-	NC_000002.12:g.144398638G>T	1000Genomes,ExAC,gnomAD
rs137852982	p.Ser877Ter	stop gained	-	NC_000002.12:g.144398632G>C	-
rs904620951	p.Asn880Lys	missense variant	-	NC_000002.12:g.144398622G>C	TOPMed,gnomAD
rs1463332216	p.Asp882Glu	missense variant	-	NC_000002.12:g.144398616A>C	gnomAD
rs921397888	p.Glu893Lys	missense variant	-	NC_000002.12:g.144398585C>T	TOPMed,gnomAD
rs1553961516	p.Ser895Ter	stop gained	-	NC_000002.12:g.144398578G>T	-
rs760849906	p.Asn896Lys	missense variant	-	NC_000002.12:g.144398574A>C	ExAC,TOPMed,gnomAD
rs1482981133	p.Ser897Leu	missense variant	-	NC_000002.12:g.144398572G>A	TOPMed,gnomAD
rs775663946	p.Asn898Lys	missense variant	-	NC_000002.12:g.144398568A>T	ExAC,gnomAD
rs745927130	p.Asn899Lys	missense variant	-	NC_000002.12:g.144398565A>T	ExAC,TOPMed,gnomAD
rs772317889	p.Asn899Tyr	missense variant	-	NC_000002.12:g.144398567T>A	ExAC,gnomAD
rs1477010525	p.Asn899Thr	missense variant	-	NC_000002.12:g.144398566T>G	TOPMed
rs730881199	p.Leu900Arg	missense variant	-	NC_000002.12:g.144398563A>C	-
rs779103467	p.Asp901Gly	missense variant	-	NC_000002.12:g.144398560T>C	ExAC,gnomAD
rs1345627884	p.Asn902Lys	missense variant	-	NC_000002.12:g.144398556G>C	TOPMed,gnomAD
rs771283992	p.Ser904Ile	missense variant	-	NC_000002.12:g.144398551C>A	ExAC,gnomAD
rs794727922	p.Asn906His	missense variant	-	NC_000002.12:g.144398546T>G	-
rs550047043	p.Val908Met	missense variant	-	NC_000002.12:g.144398540C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs550047043	p.Val908Leu	missense variant	-	NC_000002.12:g.144398540C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1392973782	p.Phe909Leu	missense variant	-	NC_000002.12:g.144398535G>C	gnomAD
rs756567435	p.Ser910Arg	missense variant	-	NC_000002.12:g.144398532G>C	ExAC,gnomAD
rs1057147593	p.Ala916Val	missense variant	-	NC_000002.12:g.144398515G>A	TOPMed,gnomAD
rs1470387877	p.Pro918His	missense variant	-	NC_000002.12:g.144398509G>T	gnomAD
rs1470387877	p.Pro918Leu	missense variant	-	NC_000002.12:g.144398509G>A	gnomAD
rs794727924	p.Gln926Ter	stop gained	-	NC_000002.12:g.144398486G>A	gnomAD
rs794727924	p.Gln926Glu	missense variant	-	NC_000002.12:g.144398486G>C	gnomAD
rs730881200	p.Ala928Thr	missense variant	-	NC_000002.12:g.144398480C>T	TOPMed,gnomAD
rs730881200	p.Ala928Ser	missense variant	-	NC_000002.12:g.144398480C>A	TOPMed,gnomAD
rs1032383716	p.Ala928Val	missense variant	-	NC_000002.12:g.144398479G>A	TOPMed
rs1255855620	p.Pro930Leu	missense variant	-	NC_000002.12:g.144398473G>A	TOPMed,gnomAD
rs751024252	p.Pro930Ser	missense variant	-	NC_000002.12:g.144398474G>A	ExAC,TOPMed,gnomAD
rs751024252	p.Pro930Ala	missense variant	-	NC_000002.12:g.144398474G>C	ExAC,TOPMed,gnomAD
rs375527889	p.Pro931Ser	missense variant	-	NC_000002.12:g.144398471G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1323891287	p.Ala932Thr	missense variant	-	NC_000002.12:g.144398468C>T	gnomAD
rs762734976	p.Met935Val	missense variant	-	NC_000002.12:g.144398459T>C	ExAC,gnomAD
rs730881201	p.Met935Thr	missense variant	-	NC_000002.12:g.144398458A>G	-
rs1226087957	p.Pro936Thr	missense variant	-	NC_000002.12:g.144398456G>T	gnomAD
rs1038288183	p.Gln939Ter	stop gained	-	NC_000002.12:g.144398447G>A	-
rs1057520707	p.Ser941Gly	missense variant	-	NC_000002.12:g.144398441T>C	TOPMed
rs545434577	p.Ser941Thr	missense variant	-	NC_000002.12:g.144398440C>G	1000Genomes,ExAC,gnomAD
rs1444247282	p.Ile942Asn	missense variant	-	NC_000002.12:g.144398437A>T	TOPMed,gnomAD
rs1444247282	p.Ile942Thr	missense variant	-	NC_000002.12:g.144398437A>G	TOPMed,gnomAD
rs587784566	p.Arg946Ter	stop gained	-	NC_000002.12:g.144398426G>A	-
rs147716561	p.Arg946Gln	missense variant	-	NC_000002.12:g.144398425C>T	ESP,ExAC,TOPMed,gnomAD
rs776473212	p.Pro947Ser	missense variant	-	NC_000002.12:g.144398423G>A	ExAC,TOPMed,gnomAD
rs1166486779	p.Pro949Thr	missense variant	-	NC_000002.12:g.144398417G>T	TOPMed
rs1408659659	p.Gly950Glu	missense variant	-	NC_000002.12:g.144398413C>T	gnomAD
rs774228448	p.Met954Val	missense variant	-	NC_000002.12:g.144398402T>C	ExAC,gnomAD
rs1165663655	p.Pro958Ser	missense variant	-	NC_000002.12:g.144398390G>A	TOPMed
rs201902790	p.Met960Thr	missense variant	-	NC_000002.12:g.144398383A>G	ESP,ExAC,TOPMed,gnomAD
rs1036306924	p.Ala961Gly	missense variant	-	NC_000002.12:g.144398380G>C	TOPMed
rs1184670118	p.Thr963Ala	missense variant	-	NC_000002.12:g.144398375T>C	gnomAD
rs1206387289	p.Gly967Arg	missense variant	-	NC_000002.12:g.144398363C>T	gnomAD
rs1328776628	p.Phe971Ser	missense variant	-	NC_000002.12:g.144398350A>G	TOPMed
rs1433450694	p.Ala972Pro	missense variant	-	NC_000002.12:g.144398348C>G	TOPMed
rs1297343922	p.Met974Val	missense variant	-	NC_000002.12:g.144398342T>C	TOPMed
rs151256895	p.Arg977Thr	missense variant	-	NC_000002.12:g.144398332C>G	ESP,ExAC,TOPMed,gnomAD
rs1354236085	p.Arg982Trp	missense variant	-	NC_000002.12:g.144398318G>A	gnomAD
rs371509136	p.Arg982Gln	missense variant	-	NC_000002.12:g.144398317C>T	ESP,ExAC,TOPMed,gnomAD
rs1384697118	p.Gly985Arg	missense variant	-	NC_000002.12:g.144398309C>T	TOPMed,gnomAD
rs797046120	p.Leu990Ter	stop gained	-	NC_000002.12:g.144396585A>T	-
rs763325552	p.Leu991Ile	missense variant	-	NC_000002.12:g.144396583G>T	ExAC,TOPMed,gnomAD
rs763325552	p.Leu991Phe	missense variant	-	NC_000002.12:g.144396583G>A	ExAC,TOPMed,gnomAD
rs1323171469	p.Ala994Thr	missense variant	-	NC_000002.12:g.144396574C>T	gnomAD
rs1057518185	p.Gln995Ter	stop gained	-	NC_000002.12:g.144396571G>A	-
rs1263988535	p.Asp996Glu	missense variant	-	NC_000002.12:g.144396566G>T	gnomAD
rs773369288	p.Tyr997His	missense variant	-	NC_000002.12:g.144396565A>G	ExAC,gnomAD
rs142280503	p.Met998Thr	missense variant	-	NC_000002.12:g.144396561A>G	ESP,ExAC
rs1388428277	p.Leu1001Gln	missense variant	-	NC_000002.12:g.144396552A>T	TOPMed
rs863224942	p.Asp1003Tyr	missense variant	-	NC_000002.12:g.144396547C>A	-
rs777220598	p.Met1004Val	missense variant	-	NC_000002.12:g.144396544T>C	ExAC,TOPMed,gnomAD
rs1370024483	p.Ser1007Pro	missense variant	-	NC_000002.12:g.144396535A>G	TOPMed
rs143474223	p.Ser1009Phe	missense variant	-	NC_000002.12:g.144396528G>A	ESP,ExAC,gnomAD
rs771693391	p.Arg1013Cys	missense variant	-	NC_000002.12:g.144396517G>A	ExAC
rs776367143	p.Arg1013His	missense variant	-	NC_000002.12:g.144396516C>T	TOPMed
rs745521735	p.Lys1014Arg	missense variant	-	NC_000002.12:g.144396513T>C	ExAC,gnomAD
rs200287036	p.Lys1018Arg	missense variant	-	NC_000002.12:g.144396501T>C	1000Genomes
rs1266095472	p.Thr1019Ile	missense variant	-	NC_000002.12:g.144396498G>A	TOPMed
rs905118258	p.Glu1020Lys	missense variant	-	NC_000002.12:g.144396496C>T	-
rs553833674	p.Met1023Thr	missense variant	-	NC_000002.12:g.144396486A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1553961332	p.Phe1033Cys	missense variant	-	NC_000002.12:g.144396456A>C	-
rs1297451721	p.Leu1039Val	missense variant	-	NC_000002.12:g.144396439G>C	gnomAD
rs886041989	p.Arg1041Ter	stop gained	-	NC_000002.12:g.144396433G>A	-
rs903815010	p.Gln1055Lys	missense variant	-	NC_000002.12:g.144390008G>T	TOPMed
rs1553960793	p.Lys1062Ter	stop gained	-	NC_000002.12:g.144389987T>A	-
rs1553960788	p.His1065Tyr	missense variant	-	NC_000002.12:g.144389978G>A	-
rs730881202	p.Glu1069Lys	missense variant	-	NC_000002.12:g.144389966C>T	-
rs397515449	p.His1070Arg	missense variant	-	NC_000002.12:g.144389962T>C	-
rs797046121	p.Ser1071Ter	stop gained	-	NC_000002.12:g.144389959G>T	-
rs587784567	p.Arg1072Ser	missense variant	-	NC_000002.12:g.144389955C>G	-
rs1114167349	p.His1074Pro	missense variant	-	NC_000002.12:g.144389950T>G	-
rs1226638635	p.Ser1075Leu	missense variant	-	NC_000002.12:g.144389947G>A	gnomAD
rs1135402759	p.Tyr1080Cys	missense variant	-	NC_000002.12:g.144389932T>C	-
rs1135401790	p.Cys1082Tyr	missense variant	-	NC_000002.12:g.144389926C>T	-
rs753893234	p.Gly1086Ser	missense variant	-	NC_000002.12:g.144389915C>T	ExAC,gnomAD
rs1301244969	p.Arg1088Cys	missense variant	-	NC_000002.12:g.144389909G>A	gnomAD
rs1423851170	p.Ser1092Ter	stop gained	-	NC_000002.12:g.144389896G>T	gnomAD
rs1553960778	p.Ser1094Ter	stop gained	-	NC_000002.12:g.144389890G>T	-
rs397515448	p.Ser1096Pro	missense variant	-	NC_000002.12:g.144389885A>G	-
rs886044396	p.Cys1106Ser	missense variant	-	NC_000002.12:g.144389855A>T	-
rs1553960775	p.Glu1114Asp	missense variant	-	NC_000002.12:g.144389829T>G	-
rs1410904027	p.Glu1117Asp	missense variant	-	NC_000002.12:g.144389820C>G	TOPMed
rs730881203	p.Arg1118Gly	missense variant	-	NC_000002.12:g.144389819G>C	-
rs762526905	p.Arg1121Leu	missense variant	-	NC_000002.12:g.144389809C>A	ExAC,gnomAD
rs762526905	p.Arg1121His	missense variant	-	NC_000002.12:g.144389809C>T	ExAC,gnomAD
rs918037210	p.Gly1124Arg	missense variant	-	NC_000002.12:g.144389801C>G	TOPMed,gnomAD
rs1395508810	p.Leu1126Val	missense variant	-	NC_000002.12:g.144389795A>C	TOPMed
rs1299113124	p.Glu1127Gly	missense variant	-	NC_000002.12:g.144389791T>C	TOPMed,gnomAD
rs1553960767	p.Glu1127Lys	missense variant	-	NC_000002.12:g.144389792C>T	-
rs1385679012	p.Pro1128Arg	missense variant	-	NC_000002.12:g.144389788G>C	gnomAD
rs1338018838	p.Pro1128Thr	missense variant	-	NC_000002.12:g.144389789G>T	TOPMed
rs769219699	p.Glu1130Lys	missense variant	-	NC_000002.12:g.144389783C>T	ExAC,gnomAD
rs748072014	p.Leu1131Val	missense variant	-	NC_000002.12:g.144389780G>C	ExAC,gnomAD
rs1288140327	p.Asn1134Lys	missense variant	-	NC_000002.12:g.144389769G>T	TOPMed
rs1346483037	p.Arg1135Gln	missense variant	-	NC_000002.12:g.144389767C>T	TOPMed
rs730881204	p.Leu1138Met	missense variant	-	NC_000002.12:g.144389759A>T	ExAC,gnomAD
rs768758098	p.Gln1139Glu	missense variant	-	NC_000002.12:g.144389756G>C	ExAC,gnomAD
rs1463669256	p.Ser1140Thr	missense variant	-	NC_000002.12:g.144389752C>G	gnomAD
rs780004720	p.Pro1143His	missense variant	-	NC_000002.12:g.144389743G>T	ExAC,gnomAD
rs137852983	p.Gln1144Arg	missense variant	-	NC_000002.12:g.144389740T>C	-
rs1332911302	p.Gln1144His	missense variant	-	NC_000002.12:g.144389739C>G	gnomAD
rs757485878	p.Tyr1146Asn	missense variant	-	NC_000002.12:g.144389735A>T	ExAC,gnomAD
rs1437643472	p.Met1155Ile	missense variant	-	NC_000002.12:g.144389706C>T	gnomAD
rs1251604500	p.Asp1158Tyr	missense variant	-	NC_000002.12:g.144389699C>A	gnomAD
rs1060500655	p.Ser1161Arg	missense variant	-	NC_000002.12:g.144389688G>C	TOPMed,gnomAD
rs730881205	p.Glu1162Lys	missense variant	-	NC_000002.12:g.144389687C>T	-
rs1222412726	p.Glu1166Asp	missense variant	-	NC_000002.12:g.144389673C>G	TOPMed,gnomAD
rs1276566236	p.Glu1168Gly	missense variant	-	NC_000002.12:g.144389668T>C	gnomAD
rs1236714413	p.Gly1169Val	missense variant	-	NC_000002.12:g.144389665C>A	gnomAD
rs755538065	p.Gly1172Val	missense variant	-	NC_000002.12:g.144389656C>A	ExAC,gnomAD
rs751864471	p.Tyr1173His	missense variant	-	NC_000002.12:g.144389654A>G	ExAC,gnomAD
rs762628069	p.Gly1174Arg	missense variant	-	NC_000002.12:g.144389651C>T	ExAC,gnomAD
rs772764893	p.Leu1176Met	missense variant	-	NC_000002.12:g.144389645G>T	ExAC,TOPMed,gnomAD
rs1553960747	p.Leu1176Pro	missense variant	-	NC_000002.12:g.144389644A>G	-
rs764991725	p.Gly1177Asp	missense variant	-	NC_000002.12:g.144389641C>T	ExAC,gnomAD
rs1480636573	p.Gly1177Arg	missense variant	-	NC_000002.12:g.144389642C>G	TOPMed
rs761202423	p.Asp1180Tyr	missense variant	-	NC_000002.12:g.144389633C>A	ExAC,gnomAD
rs761202423	p.Asp1180Asn	missense variant	-	NC_000002.12:g.144389633C>T	ExAC,gnomAD
rs776351453	p.Gly1181Cys	missense variant	-	NC_000002.12:g.144389630C>A	ExAC,gnomAD
rs1280059432	p.Phe1185Leu	missense variant	-	NC_000002.12:g.144389616G>T	TOPMed,gnomAD
rs1202586650	p.Phe1185Val	missense variant	-	NC_000002.12:g.144389618A>C	gnomAD
rs1280059432	p.Phe1185Leu	missense variant	-	NC_000002.12:g.144389616G>C	TOPMed,gnomAD
rs1461383220	p.Phe1185Tyr	missense variant	-	NC_000002.12:g.144389617A>T	gnomAD
rs371268185	p.Glu1188Lys	missense variant	-	NC_000002.12:g.144389609C>T	ESP,ExAC
rs1349953899	p.Ser1196Thr	missense variant	-	NC_000002.12:g.144389584C>G	TOPMed,gnomAD
rs1349953899	p.Ser1196Asn	missense variant	-	NC_000002.12:g.144389584C>T	TOPMed,gnomAD
rs951998011	p.Pro1201Ser	missense variant	-	NC_000002.12:g.144389570G>A	TOPMed,gnomAD
rs568337755	p.Pro1201His	missense variant	-	NC_000002.12:g.144389569G>T	1000Genomes,ExAC,gnomAD
rs1238900874	p.Ile1204Thr	missense variant	-	NC_000002.12:g.144389560A>G	TOPMed,gnomAD
rs1360979536	p.Ile1204Val	missense variant	-	NC_000002.12:g.144389561T>C	gnomAD
rs756424812	p.Arg1205Gly	missense variant	-	NC_000002.12:g.144389558G>C	ExAC,TOPMed,gnomAD
rs748213160	p.Gly1211Val	missense variant	-	NC_000002.12:g.144389539C>A	ExAC,gnomAD
rs730881181	p.His1213Arg	missense variant	-	NC_000002.12:g.144389533T>C	-
rs1456601363	p.Ser1214Phe	missense variant	-	NC_000002.12:g.144389530G>A	TOPMed,gnomAD
rs781264255	p.Met1215Thr	missense variant	-	NC_000002.12:g.144389527A>G	ExAC,gnomAD
rs752093966	p.Asp1217Gly	missense variant	-	NC_000002.12:g.144389521T>C	ExAC,TOPMed,gnomAD
rs752093966	p.Asp1217Ala	missense variant	-	NC_000002.12:g.144389521T>G	ExAC,TOPMed,gnomAD
rs766682838	p.Ser1219Leu	missense variant	-	NC_000002.12:g.144389515G>A	ExAC,gnomAD
rs1257742591	p.Met1224Leu	missense variant	-	NC_000002.12:g.144389501T>A	gnomAD
rs1273805127	p.Glu1225Gly	missense variant	-	NC_000002.12:g.144389497T>C	TOPMed
rs758670673	p.Ser1228Leu	missense variant	-	NC_000002.12:g.144389488G>A	ExAC,gnomAD
rs1357018488	p.Asp1229Glu	missense variant	-	NC_000002.12:g.144389484G>T	gnomAD
rs750844030	p.Asp1229Asn	missense variant	-	NC_000002.12:g.144389486C>T	ExAC,TOPMed,gnomAD
rs1224398411	p.His1230Arg	missense variant	-	NC_000002.12:g.144389482T>C	TOPMed
rs1200753552	p.Glu1232Gly	missense variant	-	NC_000002.12:g.144389476T>C	gnomAD
rs1266457259	p.Asn1234Asp	missense variant	-	NC_000002.12:g.144389471T>C	TOPMed
rs1290683549	p.Asn1234Ser	missense variant	-	NC_000002.12:g.144389470T>C	gnomAD
rs761537097	p.Met1235Val	missense variant	-	NC_000002.12:g.144389468T>C	ExAC,gnomAD
rs1194095971	p.Met1235Thr	missense variant	-	NC_000002.12:g.144389467A>G	TOPMed
rs753328374	p.Asp1237Gly	missense variant	-	NC_000002.12:g.144389461T>C	ExAC,TOPMed,gnomAD
rs1474465995	p.Gly1238Ser	missense variant	-	NC_000002.12:g.144389459C>T	TOPMed
rs199951665	p.Met1239Val	missense variant	-	NC_000002.12:g.144389456T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1327048436	p.Met1239Thr	missense variant	-	NC_000002.12:g.144389455A>G	gnomAD
rs986922039	p.Ter1240Gln	stop lost	-	NC_000002.12:g.144389453A>G	TOPMed

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence

GO:Biological Process

GO ID	GO Term	Evidence

GO:Cellular Component

GO ID	GO Term	Evidence

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0479	Metal-binding
KW-1267	Proteomics identification
KW-1185	Reference proteome
KW-0862	Zinc
KW-0863	Zinc-finger

Interpro

InterPro ID	InterPro Term
IPR008598	Di19_Zn_binding_dom
IPR009057	Homeobox-like_sf
IPR001356	Homeobox_dom
IPR036236	Znf_C2H2_sf
IPR013087	Znf_C2H2_type

PROSITE

PROSITE ID	PROSITE Term
PS00028	ZINC_FINGER_C2H2_1
PS50157	ZINC_FINGER_C2H2_2

Pfam

Pfam ID	Pfam Term
PF00096	zf-C2H2
PF05605	zf-Di19

Gene: ZEB2

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction