CleftGeneDB-Search

Gene: KIFBP

Basic information

Tag	Content
Uniprot ID	A0A1B0GUA3
Entrez ID
Genbank protein ID
Genbank nucleotide ID
Ensembl protein ID	ENSP00000490026
Ensembl nucleotide ID	ENSG00000198954
Gene name	KIF-binding protein
Gene symbol	KIFBP
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description
Sequence	MANVPWAEVC EKFQAALALS RVELHKNPEK EPYKSKYSAR ALLEEVKALL GPAPEDEDER 60 PEAEDGPGAG DHALGLPAEV VEPEGPVAQR AVRLAVIEFH LGVNHIDTEE LSAGEEHLVK 120 CLRLLRRYRL SHDCISLCIQ AQRQGFTMLP RPQVIRLRWP PKVLGLQNNL GILWSEREEI 180 ETAQAYLESS EALYNQYMKE VGSPPLDPTE RFLPEEEKLT EQERSKRFEK VYTHNLYYLA 240 QVYQHLEMFE KAAHYCHSTL KRQLEHNAYH PIEWAINAAT LSQFYINKLC FMEARHCLSA 300 ANVIFGQTGK ISATEDTPEA EGEVPELYHQ RKGEIARCWI KYCLTLMQNA QLSMQDNIGE 360 LDLDKQSELR ALRKKELDEE ESIRKKAVQF GTGELCDAIS AVEEKVSYLR PLDFEEAREL 420 FLLGQHYVFE AKEFFQIDGY VTDHIEVVQD HSALFKVLAF FETDMERRCK MHKRRIAMLE 480 PLTVDLNPQY YLLVNRQIQF EIAHAYYDMM DLKVAIADRL RDPDSHIVKK INNLNKSALK 540 YYQLFLDSLR DPNKVFPEHI GEDVLRPAML AKFRVARLYG KIITADPKKE LENLATSLEH 600 YKFIVDYCEK HPEAAQEIEV ELELSKEMVS LLPTKMERFR TKMALT 646

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	Species	Evidence	Details
1:1 ortholog	KIFBP	527433	Q3SYS9		Bos taurus	Prediction	More>>
1:1 ortholog	KIFBP	479232	E2QTI7		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	KIFBP		A0A452DK96		Capra hircus	Prediction	More>>
1:1 ortholog	KIFBP	100063227	F7D3N0		Equus caballus	Prediction	More>>
1:1 ortholog	KIFBP		A0A1B0GUA3		Homo sapiens	Prediction	More>>
1:1 ortholog	Kifbp	72320	Q6ZPU9	CPO	Mus musculus	Publication	More>>
1:1 ortholog	KIFBP		H2R3T2		Pan troglodytes	Prediction	More>>
1:1 ortholog	KIFBP	100151916	F1SUG6		Sus scrofa	Prediction	More>>
1:1 ortholog	Kif1bp	606294	G3V614		Rattus norvegicus	Prediction	More>>
1:1 ortholog	kifbp	100002194	B8A5I1		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs756816553	p.Pro5Gln	missense variant	-	NC_000010.11:g.68988846C>A	ExAC,gnomAD
rs756816553	p.Pro5Leu	missense variant	-	NC_000010.11:g.68988846C>T	ExAC,gnomAD
rs1358858905	p.Trp6Gly	missense variant	-	NC_000010.11:g.68988848T>G	TOPMed,gnomAD
rs545527324	p.Trp6Ter	stop gained	-	NC_000010.11:g.68988850G>A	TOPMed
rs1265597786	p.Glu8Ala	missense variant	-	NC_000010.11:g.68988855A>C	gnomAD
rs553587755	p.Cys10Phe	missense variant	-	NC_000010.11:g.68988861G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs747405986	p.Phe13Leu	missense variant	-	NC_000010.11:g.68988871C>G	ExAC,gnomAD
rs777015827	p.Ala15Gly	missense variant	-	NC_000010.11:g.68988876C>G	ExAC,TOPMed,gnomAD
rs777015827	p.Ala15Val	missense variant	-	NC_000010.11:g.68988876C>T	ExAC,TOPMed,gnomAD
rs1481458834	p.Ala16Val	missense variant	-	NC_000010.11:g.68988879C>T	TOPMed
rs1181708378	p.Ala18Ser	missense variant	-	NC_000010.11:g.68988884G>T	TOPMed
rs770113692	p.Ser20Pro	missense variant	-	NC_000010.11:g.68988890T>C	ExAC,gnomAD
rs1471707597	p.Arg21Trp	missense variant	-	NC_000010.11:g.68988893C>T	TOPMed
rs1429970950	p.Arg21Pro	missense variant	-	NC_000010.11:g.68988894G>C	gnomAD
rs148768851	p.Glu23Gly	missense variant	-	NC_000010.11:g.68988900A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775247494	p.His25Pro	missense variant	-	NC_000010.11:g.68988906A>C	ExAC,TOPMed,gnomAD
rs775247494	p.His25Arg	missense variant	-	NC_000010.11:g.68988906A>G	ExAC,TOPMed,gnomAD
rs1324154278	p.Tyr33His	missense variant	-	NC_000010.11:g.68988929T>C	gnomAD
rs763921922	p.Lys36Thr	missense variant	-	NC_000010.11:g.68988939A>C	ExAC,gnomAD
rs372223602	p.Ala39Gly	missense variant	-	NC_000010.11:g.68988948C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1285747347	p.Ala39Thr	missense variant	-	NC_000010.11:g.68988947G>A	gnomAD
rs372223602	p.Ala39Val	missense variant	-	NC_000010.11:g.68988948C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749960762	p.Arg40Trp	missense variant	-	NC_000010.11:g.68988950C>T	ExAC,gnomAD
rs757781374	p.Ala41Pro	missense variant	-	NC_000010.11:g.68988953G>C	ExAC,TOPMed,gnomAD
rs1283885170	p.Leu43Val	missense variant	-	NC_000010.11:g.68988959C>G	gnomAD
rs1226222903	p.Ala48Gly	missense variant	-	NC_000010.11:g.68988975C>G	TOPMed
rs747425094	p.Ala48Pro	missense variant	-	NC_000010.11:g.68988974G>C	ExAC
rs897870475	p.Leu50Arg	missense variant	-	NC_000010.11:g.68988981T>G	TOPMed
rs1041795333	p.Gly51Arg	missense variant	-	NC_000010.11:g.68988983G>C	TOPMed
rs1041795333	p.Gly51Ser	missense variant	-	NC_000010.11:g.68988983G>A	TOPMed
rs755489046	p.Pro52Leu	missense variant	-	NC_000010.11:g.68988987C>T	ExAC,TOPMed,gnomAD
rs1480034789	p.Pro52Ser	missense variant	-	NC_000010.11:g.68988986C>T	gnomAD
rs1406956910	p.Pro54Thr	missense variant	-	NC_000010.11:g.68988992C>A	TOPMed
rs1426169338	p.Asp56Asn	missense variant	-	NC_000010.11:g.68988998G>A	gnomAD
rs770201721	p.Glu57Lys	missense variant	-	NC_000010.11:g.68989001G>A	ExAC,gnomAD
rs773512678	p.Glu59Lys	missense variant	-	NC_000010.11:g.68989007G>A	ExAC,TOPMed,gnomAD
rs749414163	p.Arg60Trp	missense variant	-	NC_000010.11:g.68989010C>T	ExAC,gnomAD
rs371300766	p.Pro61Arg	missense variant	-	NC_000010.11:g.68989014C>G	ExAC,TOPMed,gnomAD
rs774462618	p.Ala63Gly	missense variant	-	NC_000010.11:g.68989020C>G	ExAC,gnomAD
rs774462618	p.Ala63Val	missense variant	-	NC_000010.11:g.68989020C>T	ExAC,gnomAD
rs935579771	p.Glu64Lys	missense variant	-	NC_000010.11:g.68989022G>A	TOPMed
rs2255607	p.Gly66Ser	missense variant	-	NC_000010.11:g.68989028G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2255607	p.Gly66Cys	missense variant	-	NC_000010.11:g.68989028G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2255607	p.Gly66Arg	missense variant	-	NC_000010.11:g.68989028G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs764872990	p.Pro67Thr	missense variant	-	NC_000010.11:g.68989031C>A	ExAC,TOPMed,gnomAD
rs750004526	p.Pro67Gln	missense variant	-	NC_000010.11:g.68989032C>A	ExAC,TOPMed,gnomAD
rs201068859	p.Gly68Arg	missense variant	-	NC_000010.11:g.68989034G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs201068859	p.Gly68Cys	missense variant	-	NC_000010.11:g.68989034G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1206217818	p.Gly68Asp	missense variant	-	NC_000010.11:g.68989035G>A	TOPMed
rs201068859	p.Gly68Ser	missense variant	-	NC_000010.11:g.68989034G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1490219246	p.Ala69Val	missense variant	-	NC_000010.11:g.68989038C>T	gnomAD
rs1292526099	p.Ala69Thr	missense variant	-	NC_000010.11:g.68989037G>A	gnomAD
rs1393955776	p.Gly70Asp	missense variant	-	NC_000010.11:g.68989041G>A	gnomAD
rs1252658012	p.Asp71Gly	missense variant	-	NC_000010.11:g.68989044A>G	gnomAD
rs755612919	p.Pro77Leu	missense variant	-	NC_000010.11:g.68989062C>T	ExAC,TOPMed,gnomAD
rs1180741256	p.Pro77Ser	missense variant	-	NC_000010.11:g.68989061C>T	gnomAD
rs755612919	p.Pro77Arg	missense variant	-	NC_000010.11:g.68989062C>G	ExAC,TOPMed,gnomAD
rs755612919	p.Pro77Gln	missense variant	-	NC_000010.11:g.68989062C>A	ExAC,TOPMed,gnomAD
rs1163865456	p.Ala78Thr	missense variant	-	NC_000010.11:g.68989064G>A	gnomAD
rs1247242658	p.Glu79Lys	missense variant	-	NC_000010.11:g.68989067G>A	gnomAD
rs192748736	p.Glu84Asp	missense variant	-	NC_000010.11:g.68989084G>T	1000Genomes
rs121434515	p.Glu84Lys	missense variant	-	NC_000010.11:g.68989082G>A	gnomAD
rs121434515	p.Glu84Ter	stop gained	-	NC_000010.11:g.68989082G>T	gnomAD
rs778077029	p.Gly85Arg	missense variant	-	NC_000010.11:g.68989085G>A	ExAC,gnomAD
rs778077029	p.Gly85Trp	missense variant	-	NC_000010.11:g.68989085G>T	ExAC,gnomAD
rs749517204	p.Pro86Ser	missense variant	-	NC_000010.11:g.68989088C>T	ExAC,gnomAD
rs1328531861	p.Val87Phe	missense variant	-	NC_000010.11:g.68989091G>T	gnomAD
rs1014883362	p.Ala88Thr	missense variant	-	NC_000010.11:g.68989094G>A	TOPMed
rs1387463152	p.Gln89Lys	missense variant	-	NC_000010.11:g.68989097C>A	TOPMed
rs1334373963	p.Gln89Arg	missense variant	-	NC_000010.11:g.68989098A>G	gnomAD
rs121434514	p.Arg90Ter	stop gained	-	NC_000010.11:g.68989100C>T	-
rs992870301	p.Arg90Gln	missense variant	-	NC_000010.11:g.68989101G>A	TOPMed,gnomAD
rs1316056840	p.Leu94Val	missense variant	-	NC_000010.11:g.68989112C>G	TOPMed,gnomAD
rs1358806567	p.Ile97Val	missense variant	-	NC_000010.11:g.68989121A>G	gnomAD
rs1383187078	p.Glu98Lys	missense variant	-	NC_000010.11:g.68989124G>A	TOPMed
rs774361181	p.Phe99Val	missense variant	-	NC_000010.11:g.68989127T>G	ExAC,gnomAD
rs1339934594	p.Leu101Phe	missense variant	-	NC_000010.11:g.68989133C>T	gnomAD
rs1219404864	p.His105Arg	missense variant	-	NC_000010.11:g.68989146A>G	TOPMed,gnomAD
rs912912274	p.Ile106Thr	missense variant	-	NC_000010.11:g.68989149T>C	TOPMed,gnomAD
rs745948039	p.Asp107Tyr	missense variant	-	NC_000010.11:g.68989151G>T	ExAC,gnomAD
rs745948039	p.Asp107Asn	missense variant	-	NC_000010.11:g.68989151G>A	ExAC,gnomAD
rs768592975	p.Thr108Ala	missense variant	-	NC_000010.11:g.68989154A>G	ExAC,TOPMed,gnomAD
rs761628784	p.Glu109Asp	missense variant	-	NC_000010.11:g.68989159G>C	ExAC,gnomAD
rs1462900645	p.Leu111Arg	missense variant	-	NC_000010.11:g.68989164T>G	gnomAD
rs1167874163	p.Ser112Leu	missense variant	-	NC_000010.11:g.68989167C>T	gnomAD
rs1262056242	p.Gly114Arg	missense variant	-	NC_000010.11:g.68989172G>A	TOPMed
rs769531440	p.Glu116Gly	missense variant	-	NC_000010.11:g.68989179A>G	ExAC,gnomAD
rs773038576	p.His117Pro	missense variant	-	NC_000010.11:g.68989182A>C	ExAC,gnomAD
rs773038576	p.His117Arg	missense variant	-	NC_000010.11:g.68989182A>G	ExAC,gnomAD
rs1030239043	p.His117Gln	missense variant	-	NC_000010.11:g.68989183C>A	gnomAD
rs1337631572	p.His117Tyr	missense variant	-	NC_000010.11:g.68989181C>T	gnomAD
rs1394527585	p.Lys120Asn	missense variant	-	NC_000010.11:g.68989192A>C	gnomAD
rs372695759	p.Arg123Trp	missense variant	-	NC_000010.11:g.68989199C>T	ESP,ExAC,TOPMed,gnomAD
rs986393623	p.Leu124Arg	missense variant	-	NC_000010.11:g.68989203T>G	TOPMed
rs1308188448	p.Arg126Leu	missense variant	-	NC_000010.11:g.68989209G>T	TOPMed,gnomAD
rs759061022	p.Arg127Lys	missense variant	-	NC_000010.11:g.68989212G>A	ExAC,gnomAD
rs751092379	p.Arg127Gly	missense variant	-	NC_000010.11:g.68989211A>G	ExAC,TOPMed,gnomAD
rs768145533	p.Tyr128Cys	missense variant	-	NC_000010.11:g.68989215A>G	ExAC,TOPMed,gnomAD
rs1459656007	p.Arg129Leu	missense variant	-	NC_000010.11:g.68989218G>T	gnomAD
rs753204138	p.Arg129Gly	missense variant	-	NC_000010.11:g.68989217C>G	ExAC,gnomAD
rs540172119	p.His132Gln	missense variant	-	NC_000010.11:g.68989228C>G	1000Genomes,ExAC,gnomAD
rs200399485	p.Cys134Gly	missense variant	-	NC_000010.11:g.68989232T>G	1000Genomes
rs143950359	p.Ile135Met	missense variant	-	NC_000010.11:g.68989237C>G	ESP,ExAC,TOPMed,gnomAD
rs1159688038	p.Ile135Ser	missense variant	-	NC_000010.11:g.68989236T>G	gnomAD
rs757478269	p.Ile135Val	missense variant	-	NC_000010.11:g.68989235A>G	ExAC
rs772098884	p.Ser136Thr	missense variant	-	NC_000010.11:g.68989238T>A	ExAC,gnomAD
rs1476325494	p.Leu137Val	missense variant	-	NC_000010.11:g.68989241C>G	TOPMed
rs1050330380	p.Ile139Asn	missense variant	-	NC_000010.11:g.68989248T>A	TOPMed,gnomAD
rs1050330380	p.Ile139Thr	missense variant	-	NC_000010.11:g.68989248T>C	TOPMed,gnomAD
rs781131113	p.Ile139Val	missense variant	-	NC_000010.11:g.68989247A>G	ExAC,gnomAD
rs529028747	p.Gln140Arg	missense variant	-	NC_000010.11:g.68989251A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs865809614	p.Ala141Gly	missense variant	-	NC_000010.11:g.68989254C>G	gnomAD
rs865809614	p.Ala141Val	missense variant	-	NC_000010.11:g.68989254C>T	gnomAD
rs1290898365	p.Gln142Arg	missense variant	-	NC_000010.11:g.68989257A>G	gnomAD
rs928882849	p.Arg143Ser	missense variant	-	NC_000010.11:g.68995206G>T	TOPMed,gnomAD
rs1164577339	p.Met148Val	missense variant	-	NC_000010.11:g.68995219A>G	gnomAD
rs1029182558	p.Pro150Ser	missense variant	-	NC_000010.11:g.68995225C>T	TOPMed
rs955112124	p.Arg151Ser	missense variant	-	NC_000010.11:g.68995230G>C	TOPMed,gnomAD
rs532927372	p.Ile155Leu	missense variant	-	NC_000010.11:g.68995240A>C	1000Genomes,TOPMed,gnomAD
rs532927372	p.Ile155Phe	missense variant	-	NC_000010.11:g.68995240A>T	1000Genomes,TOPMed,gnomAD
rs1040024296	p.Arg156His	missense variant	-	NC_000010.11:g.68995244G>A	TOPMed,gnomAD
rs540045403	p.Leu157Val	missense variant	-	NC_000010.11:g.68995246C>G	1000Genomes,TOPMed
rs939730860	p.Arg158His	missense variant	-	NC_000010.11:g.68995250G>A	TOPMed
rs1210027419	p.Lys162Glu	missense variant	-	NC_000010.11:g.68995261A>G	TOPMed
rs972371969	p.Gly165Glu	missense variant	-	NC_000010.11:g.68995271G>A	TOPMed
rs769682005	p.Asn168Asp	missense variant	-	NC_000010.11:g.69000424A>G	ExAC,TOPMed,gnomAD
rs749043896	p.Glu179Asp	missense variant	-	NC_000010.11:g.69000459A>C	ExAC,gnomAD
rs770722517	p.Ile180Leu	missense variant	-	NC_000010.11:g.69000460A>C	ExAC,gnomAD
rs770722517	p.Ile180Val	missense variant	-	NC_000010.11:g.69000460A>G	ExAC,gnomAD
rs1387131459	p.Ala185Thr	missense variant	-	NC_000010.11:g.69000475G>A	gnomAD
rs774262677	p.Glu188Gln	missense variant	-	NC_000010.11:g.69000484G>C	ExAC,gnomAD
rs1302467817	p.Ser190Ter	stop gained	-	NC_000010.11:g.69000491C>A	gnomAD
rs1347981384	p.Ala192Val	missense variant	-	NC_000010.11:g.69000497C>T	gnomAD
rs1044770486	p.Gln196His	missense variant	-	NC_000010.11:g.69000510G>T	TOPMed
rs200596309	p.Met198Leu	missense variant	-	NC_000010.11:g.69000514A>T	TOPMed
rs200596309	p.Met198Val	missense variant	-	NC_000010.11:g.69000514A>G	TOPMed
rs62625033	p.Met198Thr	missense variant	-	NC_000010.11:g.69000515T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1257801340	p.Lys199Glu	missense variant	-	NC_000010.11:g.69000517A>G	TOPMed,gnomAD
rs144317643	p.Glu200Asp	missense variant	-	NC_000010.11:g.69000522G>C	ESP,ExAC,TOPMed,gnomAD
rs757109189	p.Val201Phe	missense variant	-	NC_000010.11:g.69005046G>T	ExAC,gnomAD
rs1047715298	p.Leu206Phe	missense variant	-	NC_000010.11:g.69005061C>T	TOPMed,gnomAD
rs112642097	p.Thr209Pro	missense variant	-	NC_000010.11:g.69005070A>C	1000Genomes,ESP,TOPMed,gnomAD
rs112642097	p.Thr209Ala	missense variant	-	NC_000010.11:g.69005070A>G	1000Genomes,ESP,TOPMed,gnomAD
rs139483880	p.Arg211His	missense variant	-	NC_000010.11:g.69005077G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200098813	p.Arg211Cys	missense variant	-	NC_000010.11:g.69005076C>T	1000Genomes,ExAC,gnomAD
rs1197071935	p.Phe212Cys	missense variant	-	NC_000010.11:g.69005080T>G	gnomAD
rs771863463	p.Leu213Ile	missense variant	-	NC_000010.11:g.69005082C>A	ExAC,gnomAD
rs1464792155	p.Glu215Ala	missense variant	-	NC_000010.11:g.69005089A>C	gnomAD
rs926983945	p.Glu217Gly	missense variant	-	NC_000010.11:g.69005095A>G	TOPMed
rs377072770	p.Thr220Ser	missense variant	-	NC_000010.11:g.69005104C>G	ESP,ExAC,TOPMed,gnomAD
rs768162436	p.Glu221Lys	missense variant	-	NC_000010.11:g.69005106G>A	ExAC,gnomAD
rs1157358651	p.Arg224Ile	missense variant	-	NC_000010.11:g.69005116G>T	TOPMed
rs730882150	p.Ser225Ter	stop gained	-	NC_000010.11:g.69005119C>A	ExAC,TOPMed,gnomAD
rs746722910	p.Val231Ile	missense variant	-	NC_000010.11:g.69005742G>A	ExAC,TOPMed,gnomAD
rs746722910	p.Val231Phe	missense variant	-	NC_000010.11:g.69005742G>T	ExAC,TOPMed,gnomAD
rs1346531121	p.Tyr232Cys	missense variant	-	NC_000010.11:g.69005746A>G	gnomAD
rs1383529353	p.Tyr237His	missense variant	-	NC_000010.11:g.69005760T>C	TOPMed
rs1224561733	p.Tyr238Asp	missense variant	-	NC_000010.11:g.69005763T>G	gnomAD
rs768162943	p.Ala240Val	missense variant	-	NC_000010.11:g.69005770C>T	ExAC,gnomAD
rs1297155405	p.Gln241Ter	stop gained	-	NC_000010.11:g.69005772C>T	TOPMed
rs935472274	p.Gln241Pro	missense variant	-	NC_000010.11:g.69005773A>C	TOPMed
rs1487370056	p.Tyr243Asp	missense variant	-	NC_000010.11:g.69005778T>G	gnomAD
rs370670715	p.Gln244Arg	missense variant	-	NC_000010.11:g.69005782A>G	ESP,ExAC,TOPMed,gnomAD
rs1289198105	p.Leu246Pro	missense variant	-	NC_000010.11:g.69005788T>C	TOPMed
rs747600573	p.Glu247Lys	missense variant	-	NC_000010.11:g.69005790G>A	ExAC,TOPMed,gnomAD
rs368916440	p.Met248Ile	missense variant	-	NC_000010.11:g.69005795G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781257334	p.Ala252Thr	missense variant	-	NC_000010.11:g.69005805G>A	ExAC,TOPMed,gnomAD
rs1388953594	p.Ala253Thr	missense variant	-	NC_000010.11:g.69005808G>A	TOPMed
rs1365348518	p.Ala253Val	missense variant	-	NC_000010.11:g.69005809C>T	gnomAD
rs191873145	p.Tyr255His	missense variant	-	NC_000010.11:g.69005814T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1377923102	p.Cys256Ser	missense variant	-	NC_000010.11:g.69005817T>A	gnomAD
rs759865249	p.Ser258Gly	missense variant	-	NC_000010.11:g.69005823A>G	ExAC
rs760604068	p.Arg262His	missense variant	-	NC_000010.11:g.69005836G>A	ExAC,TOPMed,gnomAD
rs752833136	p.Arg262Cys	missense variant	-	NC_000010.11:g.69005835C>T	ExAC,TOPMed,gnomAD
rs760604068	p.Arg262Leu	missense variant	-	NC_000010.11:g.69005836G>T	ExAC,TOPMed,gnomAD
rs997199629	p.Gln263His	missense variant	-	NC_000010.11:g.69005840G>C	TOPMed
rs547582634	p.Glu265Gln	missense variant	-	NC_000010.11:g.69005844G>C	ExAC,TOPMed,gnomAD
rs547582634	p.Glu265Lys	missense variant	-	NC_000010.11:g.69005844G>A	ExAC,TOPMed,gnomAD
rs141052402	p.Ala268Gly	missense variant	-	NC_000010.11:g.69005854C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1016134527	p.Tyr269Asp	missense variant	-	NC_000010.11:g.69005856T>G	TOPMed
rs140826893	p.His270Tyr	missense variant	-	NC_000010.11:g.69005859C>T	ESP,ExAC,TOPMed,gnomAD
rs1248349112	p.Ile272Met	missense variant	-	NC_000010.11:g.69005867A>G	gnomAD
rs1296096605	p.Glu273Lys	missense variant	-	NC_000010.11:g.69005868G>A	TOPMed
rs1355494591	p.Ile276Val	missense variant	-	NC_000010.11:g.69005877A>G	gnomAD
rs780651935	p.Asn277Ser	missense variant	-	NC_000010.11:g.69005881A>G	ExAC,gnomAD
rs1252367280	p.Ala279Val	missense variant	-	NC_000010.11:g.69005887C>T	gnomAD
rs1177613996	p.Leu281Ser	missense variant	-	NC_000010.11:g.69005893T>C	gnomAD
rs747701445	p.Ser282Ala	missense variant	-	NC_000010.11:g.69005895T>G	ExAC,gnomAD
rs1386003298	p.Gln283Ter	stop gained	-	NC_000010.11:g.69005898C>T	TOPMed
rs572485003	p.Tyr285His	missense variant	-	NC_000010.11:g.69005904T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs572485003	p.Tyr285Asn	missense variant	-	NC_000010.11:g.69005904T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs749110699	p.Ile286Val	missense variant	-	NC_000010.11:g.69005907A>G	ExAC,TOPMed,gnomAD
rs1162016885	p.Lys288Arg	missense variant	-	NC_000010.11:g.69005914A>G	gnomAD
rs766214681	p.Leu289Gln	missense variant	-	NC_000010.11:g.69008842T>A	ExAC,TOPMed,gnomAD
rs149706162	p.Cys290Tyr	missense variant	-	NC_000010.11:g.69008845G>A	ESP,ExAC,TOPMed,gnomAD
rs374135003	p.Met292Val	missense variant	-	NC_000010.11:g.69008850A>G	ESP,ExAC
rs1465710834	p.Met292Ile	missense variant	-	NC_000010.11:g.69008852G>A	TOPMed
rs1364436073	p.Ala294Gly	missense variant	-	NC_000010.11:g.69008857C>G	gnomAD
rs752246398	p.Ala294Thr	missense variant	-	NC_000010.11:g.69008856G>A	ExAC,gnomAD
rs752246398	p.Ala294Ser	missense variant	-	NC_000010.11:g.69008856G>T	ExAC,gnomAD
rs755744684	p.His296Tyr	missense variant	-	NC_000010.11:g.69008862C>T	ExAC,gnomAD
rs755744684	p.His296Asn	missense variant	-	NC_000010.11:g.69008862C>A	ExAC,gnomAD
rs1376167494	p.Ile311Val	missense variant	-	NC_000010.11:g.69008907A>G	TOPMed
rs779217930	p.Ala313Val	missense variant	-	NC_000010.11:g.69008914C>T	ExAC,gnomAD
rs1261835762	p.Thr314Ala	missense variant	-	NC_000010.11:g.69008916A>G	gnomAD
rs201438642	p.Thr317Pro	missense variant	-	NC_000010.11:g.69008925A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs201438642	p.Thr317Ala	missense variant	-	NC_000010.11:g.69008925A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1213874017	p.Gly322Arg	missense variant	-	NC_000010.11:g.69010914G>A	gnomAD
rs1261742653	p.Val324Ala	missense variant	-	NC_000010.11:g.69010921T>C	gnomAD
rs941844673	p.Pro325Ser	missense variant	-	NC_000010.11:g.69010923C>T	TOPMed,gnomAD
rs149809657	p.Glu326Lys	missense variant	-	NC_000010.11:g.69010926G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1431618931	p.Leu327Pro	missense variant	-	NC_000010.11:g.69010930T>C	gnomAD
rs918976095	p.Gln330His	missense variant	-	NC_000010.11:g.69010940A>C	gnomAD
rs753347618	p.Lys332Arg	missense variant	-	NC_000010.11:g.69010945A>G	ExAC,gnomAD
rs76319365	p.Glu334Lys	missense variant	-	NC_000010.11:g.69010950G>A	-
rs756713727	p.Ile335Thr	missense variant	-	NC_000010.11:g.69010954T>C	ExAC,gnomAD
rs779495747	p.Ala336Thr	missense variant	-	NC_000010.11:g.69010956G>A	ExAC,gnomAD
rs1180857940	p.Trp339Arg	missense variant	-	NC_000010.11:g.69010965T>C	gnomAD
rs1437122309	p.Trp339Cys	missense variant	-	NC_000010.11:g.69010967G>C	gnomAD
rs1413526451	p.Trp339Ter	stop gained	-	NC_000010.11:g.69010966G>A	TOPMed,gnomAD
rs1413526451	p.Trp339Ser	missense variant	-	NC_000010.11:g.69010966G>C	TOPMed,gnomAD
rs746409140	p.Leu344Ser	missense variant	-	NC_000010.11:g.69010981T>C	ExAC,gnomAD
rs978909163	p.Thr345Pro	missense variant	-	NC_000010.11:g.69010983A>C	TOPMed
rs200525249	p.Leu346Val	missense variant	-	NC_000010.11:g.69010986C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs199510149	p.Leu346Pro	missense variant	-	NC_000010.11:g.69010987T>C	1000Genomes
rs1352329978	p.Met347Ile	missense variant	-	NC_000010.11:g.69010991G>A	gnomAD
rs141279010	p.Met347Thr	missense variant	-	NC_000010.11:g.69010990T>C	ESP,ExAC,TOPMed,gnomAD
rs769013695	p.Ala350Thr	missense variant	-	NC_000010.11:g.69010998G>A	ExAC,TOPMed,gnomAD
rs1293340864	p.Gln351Ter	stop gained	-	NC_000010.11:g.69011001C>T	gnomAD
rs1293340864	p.Gln351Glu	missense variant	-	NC_000010.11:g.69011001C>G	gnomAD
rs749327406	p.Asp356Asn	missense variant	-	NC_000010.11:g.69015541G>A	ExAC,TOPMed,gnomAD
rs771905210	p.Asn357Ser	missense variant	-	NC_000010.11:g.69015545A>G	ExAC,gnomAD
rs374306964	p.Asn357Lys	missense variant	-	NC_000010.11:g.69015546C>A	ESP,gnomAD
rs1181204651	p.Ile358Val	missense variant	-	NC_000010.11:g.69015547A>G	gnomAD
rs1411453116	p.Ile358Lys	missense variant	-	NC_000010.11:g.69015548T>A	gnomAD
rs113952834	p.Gly359Glu	missense variant	-	NC_000010.11:g.69015551G>A	gnomAD
rs1430252870	p.Gly359Arg	missense variant	-	NC_000010.11:g.69015550G>A	gnomAD
rs113952834	p.Gly359Ala	missense variant	-	NC_000010.11:g.69015551G>C	gnomAD
rs775363378	p.Leu361Arg	missense variant	-	NC_000010.11:g.69015557T>G	ExAC,gnomAD
rs760482247	p.Asp362His	missense variant	-	NC_000010.11:g.69015559G>C	ExAC,TOPMed,gnomAD
rs760482247	p.Asp362Asn	missense variant	-	NC_000010.11:g.69015559G>A	ExAC,TOPMed,gnomAD
rs916055618	p.Asp364Asn	missense variant	-	NC_000010.11:g.69015565G>A	gnomAD
rs1288749960	p.Ser367Pro	missense variant	-	NC_000010.11:g.69015574T>C	TOPMed
rs1446733493	p.Ser367Tyr	missense variant	-	NC_000010.11:g.69015575C>A	gnomAD
rs776378534	p.Leu369Phe	missense variant	-	NC_000010.11:g.69015580C>T	ExAC,gnomAD
rs761439410	p.Arg370Lys	missense variant	-	NC_000010.11:g.69015584G>A	ExAC,gnomAD
rs764929585	p.Lys374Glu	missense variant	-	NC_000010.11:g.69015595A>G	ExAC,gnomAD
rs762458711	p.Lys375Thr	missense variant	-	NC_000010.11:g.69015599A>C	ExAC,gnomAD
rs1362774155	p.Glu379Lys	missense variant	-	NC_000010.11:g.69015610G>A	TOPMed
rs994920889	p.Glu381Gly	missense variant	-	NC_000010.11:g.69015617A>G	TOPMed
rs138090713	p.Glu381Lys	missense variant	-	NC_000010.11:g.69015616G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs755522222	p.Arg384Trp	missense variant	-	NC_000010.11:g.69015625C>T	ExAC,TOPMed,gnomAD
rs371267544	p.Arg384Gln	missense variant	-	NC_000010.11:g.69015626G>A	ESP,ExAC,TOPMed,gnomAD
rs756300309	p.Lys385Gln	missense variant	-	NC_000010.11:g.69015628A>C	ExAC,TOPMed,gnomAD
rs756300309	p.Lys385Glu	missense variant	-	NC_000010.11:g.69015628A>G	ExAC,TOPMed,gnomAD
rs138802223	p.Gln389His	missense variant	-	NC_000010.11:g.69015642G>C	ESP,ExAC,TOPMed,gnomAD
rs374297499	p.Phe390Ile	missense variant	-	NC_000010.11:g.69015643T>A	ESP,ExAC,TOPMed,gnomAD
rs1245098587	p.Gly391Glu	missense variant	-	NC_000010.11:g.69015647G>A	TOPMed
rs1346485433	p.Gly391Arg	missense variant	-	NC_000010.11:g.69015646G>A	TOPMed,gnomAD
rs1333565207	p.Gly393Asp	missense variant	-	NC_000010.11:g.69015653G>A	gnomAD
rs200669180	p.Gly393Ser	missense variant	-	NC_000010.11:g.69015652G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1342924055	p.Glu394Lys	missense variant	-	NC_000010.11:g.69015655G>A	TOPMed
rs200179572	p.Cys396Ser	missense variant	-	NC_000010.11:g.69015662G>C	1000Genomes
rs770724316	p.Ala398Thr	missense variant	-	NC_000010.11:g.69015667G>A	ExAC,TOPMed,gnomAD
rs761611047	p.Ile399Val	missense variant	-	NC_000010.11:g.69015670A>G	ExAC,gnomAD
rs1276557114	p.Ile399Met	missense variant	-	NC_000010.11:g.69015672C>G	gnomAD
rs776459431	p.Ala401Ser	missense variant	-	NC_000010.11:g.69015676G>T	ExAC,gnomAD
rs776459431	p.Ala401Thr	missense variant	-	NC_000010.11:g.69015676G>A	ExAC,gnomAD
rs960846058	p.Val402Ile	missense variant	-	NC_000010.11:g.69015679G>A	TOPMed
rs1217236521	p.Glu404Gly	missense variant	-	NC_000010.11:g.69015686A>G	TOPMed,gnomAD
rs1487268466	p.Val406Ala	missense variant	-	NC_000010.11:g.69015692T>C	gnomAD
rs886044247	p.Val406Met	missense variant	-	NC_000010.11:g.69015691G>A	gnomAD
rs371981506	p.Leu409Phe	missense variant	-	NC_000010.11:g.69015702G>C	ESP,TOPMed
rs762394220	p.Asp413Glu	missense variant	-	NC_000010.11:g.69015714T>A	ExAC,TOPMed
rs1247087961	p.Arg418Lys	missense variant	-	NC_000010.11:g.69015728G>A	gnomAD
rs766038589	p.Glu419Ter	stop gained	-	NC_000010.11:g.69015730G>T	ExAC,gnomAD
rs760190886	p.Leu422Phe	missense variant	-	NC_000010.11:g.69015741A>T	ExAC
rs753004563	p.Gly424Cys	missense variant	-	NC_000010.11:g.69015745G>T	ExAC,gnomAD
rs756457508	p.Tyr427Cys	missense variant	-	NC_000010.11:g.69015755A>G	ExAC,TOPMed,gnomAD
rs754137248	p.Lys432Asn	missense variant	-	NC_000010.11:g.69015771A>C	ExAC,gnomAD
rs1332083800	p.Phe435Leu	missense variant	-	NC_000010.11:g.69015778T>C	TOPMed,gnomAD
rs779030658	p.Gln436Ter	stop gained	-	NC_000010.11:g.69015781C>T	ExAC,gnomAD
rs745934722	p.Ile437Val	missense variant	-	NC_000010.11:g.69015784A>G	ExAC,gnomAD
rs1379196173	p.Ile437Thr	missense variant	-	NC_000010.11:g.69015785T>C	TOPMed,gnomAD
rs1269240713	p.Asp438Tyr	missense variant	-	NC_000010.11:g.69015787G>T	TOPMed
rs754921517	p.Gly439Arg	missense variant	-	NC_000010.11:g.69015790G>C	ExAC,TOPMed,gnomAD
rs1338360350	p.Gly439Ala	missense variant	-	NC_000010.11:g.69015791G>C	TOPMed
rs1031934038	p.Tyr440Cys	missense variant	-	NC_000010.11:g.69015794A>G	-
rs1285409321	p.Val441Ile	missense variant	-	NC_000010.11:g.69015796G>A	gnomAD
rs1351350616	p.His444Tyr	missense variant	-	NC_000010.11:g.69015805C>T	gnomAD
rs377298939	p.Ile445Thr	missense variant	-	NC_000010.11:g.69015809T>C	ESP,ExAC,TOPMed,gnomAD
rs1450869089	p.Val448Ile	missense variant	-	NC_000010.11:g.69015817G>A	TOPMed,gnomAD
rs769584821	p.Gln449Glu	missense variant	-	NC_000010.11:g.69015820C>G	ExAC,gnomAD
rs769584821	p.Gln449Ter	stop gained	-	NC_000010.11:g.69015820C>T	ExAC,gnomAD
rs772862957	p.Asp450Gly	missense variant	-	NC_000010.11:g.69015824A>G	ExAC,gnomAD
rs370902866	p.Ser452Gly	missense variant	-	NC_000010.11:g.69015829A>G	ESP,ExAC,TOPMed,gnomAD
rs770706536	p.Ala453Ser	missense variant	-	NC_000010.11:g.69015832G>T	ExAC,TOPMed,gnomAD
rs774066072	p.Val457Leu	missense variant	-	NC_000010.11:g.69015844G>T	ExAC,gnomAD
rs373810468	p.Leu458Val	missense variant	-	NC_000010.11:g.69015847C>G	ESP,ExAC,TOPMed,gnomAD
rs373810468	p.Leu458Phe	missense variant	-	NC_000010.11:g.69015847C>T	ESP,ExAC,TOPMed,gnomAD
rs1391894394	p.Phe460Val	missense variant	-	NC_000010.11:g.69015853T>G	gnomAD
rs932630326	p.Phe461Leu	missense variant	-	NC_000010.11:g.69015856T>C	TOPMed
rs1402651253	p.Met465Val	missense variant	-	NC_000010.11:g.69015868A>G	gnomAD
rs764557349	p.Arg467Thr	missense variant	-	NC_000010.11:g.69015875G>C	ExAC,TOPMed,gnomAD
rs377744293	p.Arg468Gln	missense variant	-	NC_000010.11:g.69015878G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757532870	p.Arg468Trp	missense variant	-	NC_000010.11:g.69015877C>T	ExAC,TOPMed,gnomAD
rs201404470	p.Arg474Pro	missense variant	-	NC_000010.11:g.69015896G>C	1000Genomes,ExAC,gnomAD
rs750506715	p.Arg474Cys	missense variant	-	NC_000010.11:g.69015895C>T	ExAC,TOPMed,gnomAD
rs201404470	p.Arg474His	missense variant	-	NC_000010.11:g.69015896G>A	1000Genomes,ExAC,gnomAD
rs748167932	p.Ala477Val	missense variant	-	NC_000010.11:g.69015905C>T	ExAC,gnomAD
rs1457900956	p.Thr483Ser	missense variant	-	NC_000010.11:g.69015923C>G	gnomAD
rs777693937	p.Val484Ile	missense variant	-	NC_000010.11:g.69015925G>A	ExAC,gnomAD
rs1235802814	p.Val484Ala	missense variant	-	NC_000010.11:g.69015926T>C	gnomAD
rs749084385	p.Leu486Pro	missense variant	-	NC_000010.11:g.69015932T>C	ExAC,gnomAD
rs774102690	p.Tyr490Asp	missense variant	-	NC_000010.11:g.69015943T>G	ExAC,gnomAD
rs1402950491	p.Leu492Pro	missense variant	-	NC_000010.11:g.69015950T>C	gnomAD
rs761310113	p.Asn495Ser	missense variant	-	NC_000010.11:g.69015959A>G	ExAC,gnomAD
rs1397928504	p.Ile498Met	missense variant	-	NC_000010.11:g.69015969C>G	gnomAD
rs1334941703	p.Gln499Lys	missense variant	-	NC_000010.11:g.69015970C>A	gnomAD
rs764494346	p.His504Asp	missense variant	-	NC_000010.11:g.69015985C>G	ExAC,gnomAD
rs375318030	p.Asp508Glu	missense variant	-	NC_000010.11:g.69015999T>A	ESP,ExAC,TOPMed,gnomAD
rs762099157	p.Met509Ile	missense variant	-	NC_000010.11:g.69016002G>A	ExAC,gnomAD
rs1219083406	p.Asp511Gly	missense variant	-	NC_000010.11:g.69016007A>G	TOPMed
rs1217616883	p.Val514Phe	missense variant	-	NC_000010.11:g.69016015G>T	gnomAD
rs933931987	p.Val514Ala	missense variant	-	NC_000010.11:g.69016016T>C	TOPMed
rs147288545	p.Ala515Thr	missense variant	-	NC_000010.11:g.69016018G>A	ESP,ExAC,TOPMed,gnomAD
rs766522607	p.Ala517Val	missense variant	-	NC_000010.11:g.69016025C>T	ExAC,gnomAD
rs946518833	p.Arg519Ser	missense variant	-	NC_000010.11:g.69016032G>T	TOPMed,gnomAD
rs139261765	p.Leu520Arg	missense variant	-	NC_000010.11:g.69016034T>G	ESP,ExAC,TOPMed,gnomAD
rs756138362	p.His526Arg	missense variant	-	NC_000010.11:g.69016052A>G	ExAC,TOPMed,gnomAD
rs756138362	p.His526Pro	missense variant	-	NC_000010.11:g.69016052A>C	ExAC,TOPMed,gnomAD
rs1426204282	p.His526Tyr	missense variant	-	NC_000010.11:g.69016051C>T	gnomAD
rs1371483818	p.Ile527Met	missense variant	-	NC_000010.11:g.69016056T>G	gnomAD
rs753695346	p.Val528Leu	missense variant	-	NC_000010.11:g.69016057G>T	ExAC,gnomAD
rs1412898890	p.Asn532Ser	missense variant	-	NC_000010.11:g.69016070A>G	TOPMed
rs1404262531	p.Asn533Lys	missense variant	-	NC_000010.11:g.69016074T>A	TOPMed
rs1401634537	p.Ser537Pro	missense variant	-	NC_000010.11:g.69016084T>C	gnomAD
rs757081898	p.Ser537Ter	stop gained	-	NC_000010.11:g.69016085C>G	ExAC,gnomAD
rs1300021171	p.Ala538Ser	missense variant	-	NC_000010.11:g.69016087G>T	TOPMed,gnomAD
rs1300021171	p.Ala538Thr	missense variant	-	NC_000010.11:g.69016087G>A	TOPMed,gnomAD
rs541494160	p.Leu549Arg	missense variant	-	NC_000010.11:g.69016121T>G	1000Genomes,ExAC,gnomAD
rs1233563985	p.Asp551Tyr	missense variant	-	NC_000010.11:g.69016126G>T	TOPMed,gnomAD
rs779684131	p.Asn553Asp	missense variant	-	NC_000010.11:g.69016132A>G	ExAC,TOPMed,gnomAD
rs779684131	p.Asn553His	missense variant	-	NC_000010.11:g.69016132A>C	ExAC,TOPMed,gnomAD
rs746439491	p.Val555Leu	missense variant	-	NC_000010.11:g.69016138G>C	ExAC,gnomAD
rs769220890	p.Phe556Leu	missense variant	-	NC_000010.11:g.69016141T>C	ExAC,gnomAD
rs1241920948	p.Pro557Leu	missense variant	-	NC_000010.11:g.69016145C>T	TOPMed
rs777074091	p.Glu558Lys	missense variant	-	NC_000010.11:g.69016147G>A	ExAC,gnomAD
rs762195530	p.His559Pro	missense variant	-	NC_000010.11:g.69016151A>C	ExAC
rs773542445	p.Ile560Val	missense variant	-	NC_000010.11:g.69016153A>G	ExAC,gnomAD
rs561448573	p.Val564Ile	missense variant	-	NC_000010.11:g.69016165G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs368405054	p.Arg566His	missense variant	-	NC_000010.11:g.69016172G>A	ESP,ExAC,TOPMed,gnomAD
rs374074903	p.Arg566Cys	missense variant	-	NC_000010.11:g.69016171C>T	ESP,ExAC,TOPMed,gnomAD
rs753869868	p.Ala568Thr	missense variant	-	NC_000010.11:g.69016177G>A	ExAC,gnomAD
rs1419050253	p.Phe573Leu	missense variant	-	NC_000010.11:g.69016192T>C	gnomAD
rs1419050253	p.Phe573Val	missense variant	-	NC_000010.11:g.69016192T>G	gnomAD
rs906050638	p.Arg574Ter	stop gained	-	NC_000010.11:g.69016195C>T	-
rs1307543514	p.Val575Ile	missense variant	-	NC_000010.11:g.69016198G>A	TOPMed
rs368655395	p.Arg577His	missense variant	-	NC_000010.11:g.69016205G>A	ESP,ExAC,TOPMed,gnomAD
rs147387308	p.Arg577Ser	missense variant	-	NC_000010.11:g.69016204C>A	ESP,ExAC,gnomAD
rs368655395	p.Arg577Leu	missense variant	-	NC_000010.11:g.69016205G>T	ESP,ExAC,TOPMed,gnomAD
rs147387308	p.Arg577Cys	missense variant	-	NC_000010.11:g.69016204C>T	ESP,ExAC,gnomAD
rs1300238727	p.Gly580Asp	missense variant	-	NC_000010.11:g.69016214G>A	gnomAD
rs768011424	p.Ile583Val	missense variant	-	NC_000010.11:g.69016222A>G	ExAC,gnomAD
rs372342802	p.Pro587Leu	missense variant	-	NC_000010.11:g.69016235C>T	ESP,ExAC,TOPMed,gnomAD
rs1355001362	p.Lys589Gln	missense variant	-	NC_000010.11:g.69016240A>C	TOPMed,gnomAD
rs770269897	p.Leu598Trp	missense variant	-	NC_000010.11:g.69016268T>G	ExAC,TOPMed,gnomAD
rs1160246349	p.Glu599Gln	missense variant	-	NC_000010.11:g.69016270G>C	TOPMed
rs773630664	p.Lys602Arg	missense variant	-	NC_000010.11:g.69016280A>G	ExAC,gnomAD
rs972791290	p.Phe603Cys	missense variant	-	NC_000010.11:g.69016283T>G	TOPMed
rs954046550	p.Val605Ile	missense variant	-	NC_000010.11:g.69016288G>A	TOPMed
rs1179791643	p.Cys608Tyr	missense variant	-	NC_000010.11:g.69016298G>A	TOPMed
rs1180539772	p.Lys610Asn	missense variant	-	NC_000010.11:g.69016305G>C	TOPMed,gnomAD
rs1351395042	p.Ala615Val	missense variant	-	NC_000010.11:g.69016319C>T	gnomAD
rs374731910	p.Ala615Thr	missense variant	-	NC_000010.11:g.69016318G>A	ESP,ExAC,TOPMed,gnomAD
rs1458281300	p.Gln616Arg	missense variant	-	NC_000010.11:g.69016322A>G	gnomAD
rs201007879	p.Ile618Val	missense variant	-	NC_000010.11:g.69016327A>G	1000Genomes,TOPMed
rs1391756244	p.Glu619Gln	missense variant	-	NC_000010.11:g.69016330G>C	gnomAD
rs775700337	p.Lys626Glu	missense variant	-	NC_000010.11:g.69016351A>G	ExAC,gnomAD
rs761910393	p.Ser630Asn	missense variant	-	NC_000010.11:g.69016364G>A	ExAC,gnomAD
rs1222693850	p.Pro633Leu	missense variant	-	NC_000010.11:g.69016373C>T	gnomAD
rs1354919783	p.Thr634Ala	missense variant	-	NC_000010.11:g.69016375A>G	TOPMed
rs552921995	p.Lys635Asn	missense variant	-	NC_000010.11:g.69016380A>C	1000Genomes
rs1272965370	p.Glu637Val	missense variant	-	NC_000010.11:g.69016385A>T	TOPMed,gnomAD
rs758079903	p.Met643Thr	missense variant	-	NC_000010.11:g.69016403T>C	ExAC,gnomAD
rs985410422	p.Leu645Arg	missense variant	-	NC_000010.11:g.69016409T>G	TOPMed
rs766086695	p.Thr646Ser	missense variant	-	NC_000010.11:g.69016411A>T	ExAC,gnomAD

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-1267	Proteomics identification
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR022083	KBP
IPR011990	TPR-like_helical_dom_sf

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF12309	KBP_C