CleftGeneDB-Search

Gene: PLOD3

Basic information

Tag	Content
Uniprot ID	O60568; B2R6W6; Q540C3;
Entrez ID	8985
Genbank protein ID	AAC34808.1; AAD45831.1; AAH11674.1; BAG35613.1; AAO61775.1; AAF63701.1; EAW50205.1; AAC39753.1;
Genbank nucleotide ID	NM_001084.4
Ensembl protein ID	ENSP00000223127
Ensembl nucleotide ID	ENSG00000106397
Gene name	Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3
Gene symbol	PLOD3
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Multifunctional enzyme that catalyzes a series of essential post-translational modifications on Lys residues in procollagen (PubMed:11956192, PubMed:12475640, PubMed:18298658, PubMed:30089812, PubMed:18834968). Plays a redundant role in catalyzing the formation of hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens (PubMed:9582318, PubMed:9724729, PubMed:11956192, PubMed:12475640, PubMed:18298658, PubMed:30089812, PubMed:18834968). Plays a redundant role in catalyzing the transfer of galactose onto hydroxylysine groups, giving rise to galactosyl 5-hydroxylysine (PubMed:12475640, PubMed:18298658, PubMed:30089812, PubMed:18834968). Has an essential role by catalyzing the subsequent transfer of glucose moieties, giving rise to 1,2-glucosylgalactosyl-5-hydroxylysine residues (PubMed:10934207, PubMed:11896059, PubMed:11956192, PubMed:12475640, PubMed:18298658, PubMed:30089812, PubMed:18834968). Catalyzes hydroxylation and glycosylation of Lys residues in the MBL1 collagen-like domain, giving rise to hydroxylysine and 1,2-glucosylgalactosyl-5-hydroxylysine residues (PubMed:25419660). Essential for normal biosynthesis and secretion of type IV collagens (PubMed:18834968) (Probable). Essential for normal formation of basement membranes (By similarity).
Sequence	MTSSGPGPRF LLLLPLLLPP AASASDRPRG RDPVNPEKLL VITVATAETE GYLRFLRSAE 60 FFNYTVRTLG LGEEWRGGDV ARTVGGGQKV RWLKKEMEKY ADREDMIIMF VDSYDVILAG 120 SPTELLKKFV QSGSRLLFSA ESFCWPEWGL AEQYPEVGTG KRFLNSGGFI GFATTIHQIV 180 RQWKYKDDDD DQLFYTRLYL DPGLREKLSL NLDHKSRIFQ NLNGALDEVV LKFDRNRVRI 240 RNVAYDTLPI VVHGNGPTKL QLNYLGNYVP NGWTPEGGCG FCNQDRRTLP GGQPPPRVFL 300 AVFVEQPTPF LPRFLQRLLL LDYPPDRVTL FLHNNEVFHE PHIADSWPQL QDHFSAVKLV 360 GPEEALSPGE ARDMAMDLCR QDPECEFYFS LDADAVLTNL QTLRILIEEN RKVIAPMLSR 420 HGKLWSNFWG ALSPDEYYAR SEDYVELVQR KRVGVWNVPY ISQAYVIRGD TLRMELPQRD 480 VFSGSDTDPD MAFCKSFRDK GIFLHLSNQH EFGRLLATSR YDTEHLHPDL WQIFDNPVDW 540 KEQYIHENYS RALEGEGIVE QPCPDVYWFP LLSEQMCDEL VAEMEHYGQW SGGRHEDSRL 600 AGGYENVPTV DIHMKQVGYE DQWLQLLRTY VGPMTESLFP GYHTKARAVM NFVVRYRPDE 660 QPSLRPHHDS STFTLNVALN HKGLDYEGGG CRFLRYDCVI SSPRKGWALL HPGRLTHYHE 720 GLPTTWGTRY IMVSFVDP 738

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
6FXK
6FXM
6FXR
6FXT
6FXX
6FXY
6FXK
6FXM
6FXR
6FXT

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	PLOD3	514996	F1MET0		Bos taurus	Prediction	More>>
1:1 ortholog	PLOD3	479730	E2RTL4		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	PLOD3	100861039	A0A452EQP3		Capra hircus	Prediction	More>>
1:1 ortholog	PLOD3	8985	O60568		Homo sapiens	Prediction	More>>
1:1 ortholog	Plod3	26433	Q9R0E1	CPO	Mus musculus	Publication	More>>
1:1 ortholog	PLOD3		I3LA84		Sus scrofa	Prediction	More>>
1:1 ortholog	Plod3	288583	Q5U367		Rattus norvegicus	Prediction	More>>
1:1 ortholog	plod3	556077	A3KNH4		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs368815896	p.Ser3Phe	missense variant	-	NC_000007.14:g.101217267G>A	TOPMed,gnomAD
rs1245919321	p.Ser4Leu	missense variant	-	NC_000007.14:g.101217264G>A	gnomAD
rs760800644	p.Gly5Arg	missense variant	-	NC_000007.14:g.101217262C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro6Thr	missense variant	-	NC_000007.14:g.101217259G>T	NCI-TCGA
NCI-TCGA novel	p.Pro6Ser	missense variant	-	NC_000007.14:g.101217259G>A	NCI-TCGA
rs753195591	p.Pro8Ser	missense variant	-	NC_000007.14:g.101217253G>A	ExAC,TOPMed,gnomAD
rs753195591	p.Pro8Thr	missense variant	-	NC_000007.14:g.101217253G>T	ExAC,TOPMed,gnomAD
rs1372942703	p.Pro8Leu	missense variant	-	NC_000007.14:g.101217252G>A	TOPMed,gnomAD
rs1298527212	p.Arg9Trp	missense variant	-	NC_000007.14:g.101217250G>A	gnomAD
rs768013978	p.Leu13Arg	missense variant	-	NC_000007.14:g.101217237A>C	ExAC,gnomAD
rs1037202147	p.Leu18Val	missense variant	-	NC_000007.14:g.101217223G>C	TOPMed,gnomAD
rs1386485093	p.Pro19Ser	missense variant	-	NC_000007.14:g.101217220G>A	gnomAD
rs1465079933	p.Pro20Arg	missense variant	-	NC_000007.14:g.101217216G>C	TOPMed,gnomAD
rs1418148379	p.Ala21Val	missense variant	-	NC_000007.14:g.101217213G>A	gnomAD
rs1250850558	p.Ala24Gly	missense variant	-	NC_000007.14:g.101217204G>C	gnomAD
rs1404808452	p.Ser25Cys	missense variant	-	NC_000007.14:g.101217201G>C	TOPMed
rs941515853	p.Asp26Asn	missense variant	-	NC_000007.14:g.101217199C>T	TOPMed,gnomAD
rs941515853	p.Asp26His	missense variant	-	NC_000007.14:g.101217199C>G	TOPMed,gnomAD
rs1222313540	p.Arg29Trp	missense variant	-	NC_000007.14:g.101217190G>A	TOPMed,gnomAD
rs1490660838	p.Arg29Gln	missense variant	-	NC_000007.14:g.101217189C>T	gnomAD
rs1044576633	p.Gly30Cys	missense variant	-	NC_000007.14:g.101217187C>A	TOPMed
rs1044576633	p.Gly30Arg	missense variant	-	NC_000007.14:g.101217187C>G	TOPMed
rs1237057180	p.Val34Gly	missense variant	-	NC_000007.14:g.101217174A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Glu37Asp	missense variant	-	NC_000007.14:g.101216785C>A	NCI-TCGA
COSM1137590	p.Leu40Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.101216778G>T	NCI-TCGA Cosmic
rs754076193	p.Val41Met	missense variant	-	NC_000007.14:g.101216775C>T	ExAC,gnomAD
rs754076193	p.Val41Leu	missense variant	-	NC_000007.14:g.101216775C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala45Thr	missense variant	-	NC_000007.14:g.101216763C>T	NCI-TCGA
NCI-TCGA novel	p.Ala47Thr	missense variant	-	NC_000007.14:g.101216757C>T	NCI-TCGA
rs767958979	p.Ala47Gly	missense variant	-	NC_000007.14:g.101216756G>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu48Ter	stop gained	-	NC_000007.14:g.101216754C>A	NCI-TCGA
rs752058315	p.Glu50Lys	missense variant	-	NC_000007.14:g.101216748C>T	ExAC
NCI-TCGA novel	p.Glu50Ter	stop gained	-	NC_000007.14:g.101216748C>A	NCI-TCGA
rs766757369	p.Leu53Gln	missense variant	-	NC_000007.14:g.101216738A>T	ExAC
rs763295820	p.Arg57Ser	missense variant	-	NC_000007.14:g.101216727G>T	ExAC,TOPMed,gnomAD
rs763295820	p.Arg57Cys	missense variant	-	NC_000007.14:g.101216727G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser58Phe	missense variant	-	NC_000007.14:g.101216723G>A	NCI-TCGA
rs776359603	p.Ala59Val	missense variant	-	NC_000007.14:g.101216720G>A	ExAC,gnomAD
NCI-TCGA novel	p.Phe61Leu	missense variant	-	NC_000007.14:g.101216713G>T	NCI-TCGA
rs963282673	p.Phe62Leu	missense variant	-	NC_000007.14:g.101216710G>C	TOPMed,gnomAD
rs145886391	p.Asn63Lys	missense variant	-	NC_000007.14:g.101216707G>C	ESP,ExAC,TOPMed
rs1249409241	p.Asn63Ser	missense variant	-	NC_000007.14:g.101216708T>C	gnomAD
rs775172245	p.Tyr64Cys	missense variant	-	NC_000007.14:g.101216705T>C	ExAC,gnomAD
rs866669362	p.Arg67Leu	missense variant	-	NC_000007.14:g.101216696C>A	gnomAD
rs771521329	p.Arg67Trp	missense variant	-	NC_000007.14:g.101216697G>A	ExAC,gnomAD
rs866669362	p.Arg67Gln	missense variant	-	NC_000007.14:g.101216696C>T	gnomAD
rs765674167	p.Thr68Ile	missense variant	-	NC_000007.14:g.101216545G>A	ExAC,TOPMed,gnomAD
rs1407199898	p.Leu69Val	missense variant	-	NC_000007.14:g.101216543G>C	gnomAD
rs757754232	p.Gly70Ser	missense variant	-	NC_000007.14:g.101216540C>T	ExAC,gnomAD
rs1158167906	p.Gly70Asp	missense variant	-	NC_000007.14:g.101216539C>T	gnomAD
rs1490987058	p.Gly72Ter	stop gained	-	NC_000007.14:g.101216534C>A	gnomAD
rs1181575540	p.Glu74Gly	missense variant	-	NC_000007.14:g.101216527T>C	TOPMed
rs767079214	p.Trp75Ter	stop gained	-	NC_000007.14:g.101216524C>T	ExAC,TOPMed,gnomAD
rs1269567750	p.Trp75Ter	stop gained	-	NC_000007.14:g.101216523C>T	gnomAD
rs759025279	p.Arg76Gln	missense variant	-	NC_000007.14:g.101216521C>T	ExAC,gnomAD
rs1224664350	p.Arg76Ter	stop gained	-	NC_000007.14:g.101216522G>A	gnomAD
rs773754058	p.Gly77Val	missense variant	-	NC_000007.14:g.101216518C>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly77Arg	missense variant	-	NC_000007.14:g.101216519C>T	NCI-TCGA
rs769577145	p.Arg82Gln	missense variant	-	NC_000007.14:g.101216503C>T	ExAC,TOPMed,gnomAD
rs773194811	p.Arg82Ter	stop gained	-	NC_000007.14:g.101216504G>A	ExAC,TOPMed,gnomAD
rs769577145	p.Arg82Pro	missense variant	-	NC_000007.14:g.101216503C>G	ExAC,TOPMed,gnomAD
rs1284429544	p.Thr83Ala	missense variant	-	NC_000007.14:g.101216501T>C	TOPMed,gnomAD
rs1317735798	p.Gly86Arg	missense variant	-	NC_000007.14:g.101216492C>T	gnomAD
rs776857231	p.Gly86Ala	missense variant	-	NC_000007.14:g.101216491C>G	ExAC,TOPMed,gnomAD
rs776857231	p.Gly86Val	missense variant	-	NC_000007.14:g.101216491C>A	ExAC,TOPMed,gnomAD
rs368176524	p.Gly87Glu	missense variant	-	NC_000007.14:g.101216488C>T	ESP,ExAC,TOPMed,gnomAD
rs747072926	p.Lys89Asn	missense variant	-	NC_000007.14:g.101216481C>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys89Asn	missense variant	-	NC_000007.14:g.101216481C>A	NCI-TCGA
rs1474394000	p.Val90Ala	missense variant	-	NC_000007.14:g.101216479A>G	gnomAD
rs1192783718	p.Val90Ile	missense variant	-	NC_000007.14:g.101216480C>T	gnomAD
rs527996901	p.Arg91Gln	missense variant	-	NC_000007.14:g.101216476C>T	1000Genomes,TOPMed,gnomAD
rs1465954083	p.Trp92Gly	missense variant	-	NC_000007.14:g.101216474A>C	gnomAD
NCI-TCGA novel	p.Trp92Arg	missense variant	-	NC_000007.14:g.101216474A>T	NCI-TCGA
NCI-TCGA novel	p.Trp92Leu	missense variant	-	NC_000007.14:g.101216473C>A	NCI-TCGA
rs902279206	p.Met97Val	missense variant	-	NC_000007.14:g.101216459T>C	TOPMed
NCI-TCGA novel	p.Glu98Gly	missense variant	-	NC_000007.14:g.101216455T>C	NCI-TCGA
rs746362805	p.Lys99Asn	missense variant	-	NC_000007.14:g.101216451T>G	ExAC,TOPMed,gnomAD
rs375209437	p.Tyr100His	missense variant	-	NC_000007.14:g.101216450A>G	ESP,ExAC,TOPMed,gnomAD
rs757627466	p.Tyr100Ser	missense variant	-	NC_000007.14:g.101216449T>G	ExAC,gnomAD
rs375209437	p.Tyr100Asn	missense variant	-	NC_000007.14:g.101216450A>T	ESP,ExAC,TOPMed,gnomAD
rs780846219	p.Ala101Thr	missense variant	-	NC_000007.14:g.101216447C>T	ExAC,gnomAD
rs751261465	p.Asp102Val	missense variant	-	NC_000007.14:g.101216443T>A	ExAC
NCI-TCGA novel	p.Asp102Asn	missense variant	-	NC_000007.14:g.101216444C>T	NCI-TCGA
rs765849561	p.Arg103Gly	missense variant	-	NC_000007.14:g.101216441G>C	ExAC,gnomAD
rs147622037	p.Arg103Gln	missense variant	-	NC_000007.14:g.101216440C>T	ESP,ExAC,TOPMed,gnomAD
rs765849561	p.Arg103Trp	missense variant	-	NC_000007.14:g.101216441G>A	ExAC,gnomAD
rs147622037	p.Arg103Pro	missense variant	-	NC_000007.14:g.101216440C>G	ESP,ExAC,TOPMed,gnomAD
rs750298633	p.Asp105Asn	missense variant	-	NC_000007.14:g.101216435C>T	ExAC,TOPMed,gnomAD
rs750298633	p.Asp105Tyr	missense variant	-	NC_000007.14:g.101216435C>A	ExAC,TOPMed,gnomAD
rs1178037378	p.Met106Val	missense variant	-	NC_000007.14:g.101216432T>C	gnomAD
rs1054158782	p.Met106Thr	missense variant	-	NC_000007.14:g.101216431A>G	TOPMed,gnomAD
rs560729276	p.Met109Ile	missense variant	-	NC_000007.14:g.101216421C>T	1000Genomes,ExAC,gnomAD
rs1195189939	p.Phe110Ser	missense variant	-	NC_000007.14:g.101216419A>G	TOPMed
rs551969292	p.Phe110Leu	missense variant	-	NC_000007.14:g.101216418A>C	1000Genomes,ExAC,gnomAD
rs200949505	p.Asp112Gly	missense variant	-	NC_000007.14:g.101216413T>C	ExAC,TOPMed,gnomAD
rs1182525049	p.Ser113Asn	missense variant	-	NC_000007.14:g.101216410C>T	gnomAD
rs765121226	p.Tyr114Asp	missense variant	-	NC_000007.14:g.101216325A>C	ExAC,gnomAD
rs1232670004	p.Tyr114Cys	missense variant	-	NC_000007.14:g.101216324T>C	gnomAD
rs753862679	p.Asp115Asn	missense variant	-	NC_000007.14:g.101216322C>T	ExAC,gnomAD
rs760584710	p.Asp115Glu	missense variant	-	NC_000007.14:g.101216320G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp115His	missense variant	-	NC_000007.14:g.101216322C>G	NCI-TCGA
rs145634314	p.Val116Met	missense variant	-	NC_000007.14:g.101216319C>T	ESP,ExAC,gnomAD
rs1322535361	p.Leu118Gln	missense variant	-	NC_000007.14:g.101216312A>T	gnomAD
NCI-TCGA novel	p.Ala119Val	missense variant	-	NC_000007.14:g.101216309G>A	NCI-TCGA
rs1372255624	p.Gly120Asp	missense variant	-	NC_000007.14:g.101216306C>T	TOPMed,gnomAD
rs759638439	p.Gly120Ser	missense variant	-	NC_000007.14:g.101216307C>T	ExAC,gnomAD
rs1031861555	p.Ser121Asn	missense variant	-	NC_000007.14:g.101216303C>T	TOPMed,gnomAD
COSM5450311	p.Ser121Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.101216303C>A	NCI-TCGA Cosmic
rs774600059	p.Pro122Ala	missense variant	-	NC_000007.14:g.101216301G>C	ExAC,gnomAD
rs771170655	p.Thr123Ala	missense variant	-	NC_000007.14:g.101216298T>C	ExAC,gnomAD
rs1301955371	p.Lys127Asn	missense variant	-	NC_000007.14:g.101216284C>A	gnomAD
COSM269909	p.Lys127Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.101216286T>G	NCI-TCGA Cosmic
rs773824188	p.Phe129Leu	missense variant	-	NC_000007.14:g.101216278G>C	ExAC,TOPMed,gnomAD
rs1351137791	p.Gln131His	missense variant	-	NC_000007.14:g.101216272C>A	TOPMed,gnomAD
rs769989629	p.Ser132Ile	missense variant	-	NC_000007.14:g.101216270C>A	ExAC,gnomAD
rs769989629	p.Ser132Asn	missense variant	-	NC_000007.14:g.101216270C>T	ExAC,gnomAD
rs984162837	p.Gly133Ala	missense variant	-	NC_000007.14:g.101216267C>G	TOPMed
rs1305502313	p.Gly133Ser	missense variant	-	NC_000007.14:g.101216268C>T	TOPMed
rs1418162919	p.Ser134Asn	missense variant	-	NC_000007.14:g.101216264C>T	TOPMed,gnomAD
rs1407701219	p.Ser134Arg	missense variant	-	NC_000007.14:g.101216263G>T	gnomAD
rs1407701219	p.Ser134Arg	missense variant	-	NC_000007.14:g.101216263G>C	gnomAD
rs199668947	p.Arg135Cys	missense variant	-	NC_000007.14:g.101216262G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs779637767	p.Arg135His	missense variant	-	NC_000007.14:g.101216261C>T	ExAC,TOPMed,gnomAD
rs779637767	p.Arg135Leu	missense variant	-	NC_000007.14:g.101216261C>A	ExAC,TOPMed,gnomAD
rs745560764	p.Ser139Pro	missense variant	-	NC_000007.14:g.101216250A>G	ExAC,gnomAD
rs1267310898	p.Ala140Thr	missense variant	-	NC_000007.14:g.101216247C>T	gnomAD
rs1213833423	p.Glu141Lys	missense variant	-	NC_000007.14:g.101216244C>T	gnomAD
NCI-TCGA novel	p.Glu141Asp	missense variant	-	NC_000007.14:g.101216242C>G	NCI-TCGA
rs778372657	p.Ser142Gly	missense variant	-	NC_000007.14:g.101216241T>C	ExAC,TOPMed,gnomAD
rs999046329	p.Trp145Leu	missense variant	-	NC_000007.14:g.101216231C>A	TOPMed
NCI-TCGA novel	p.Glu147Lys	missense variant	-	NC_000007.14:g.101216226C>T	NCI-TCGA
rs756850977	p.Trp148Arg	missense variant	-	NC_000007.14:g.101216223A>G	ExAC,gnomAD
rs753715522	p.Trp148Leu	missense variant	-	NC_000007.14:g.101216222C>A	ExAC,TOPMed,gnomAD
rs753715522	p.Trp148Ter	stop gained	-	NC_000007.14:g.101216222C>T	ExAC,TOPMed,gnomAD
rs753715522	p.Trp148Ser	missense variant	-	NC_000007.14:g.101216222C>G	ExAC,TOPMed,gnomAD
rs35627324	p.Ala151Val	missense variant	-	NC_000007.14:g.101216213G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs767805406	p.Glu152Gly	missense variant	-	NC_000007.14:g.101216210T>C	ExAC,gnomAD
rs759796861	p.Gln153Glu	missense variant	-	NC_000007.14:g.101216208G>C	ExAC,gnomAD
rs1363526540	p.Tyr154Asp	missense variant	-	NC_000007.14:g.101216205A>C	TOPMed
rs1345462159	p.Pro155Leu	missense variant	-	NC_000007.14:g.101216201G>A	gnomAD
NCI-TCGA novel	p.Glu156Asp	missense variant	-	NC_000007.14:g.101216197C>A	NCI-TCGA
rs766353700	p.Gly158Arg	missense variant	-	NC_000007.14:g.101216193C>G	ExAC,gnomAD
rs1364306776	p.Gly158Asp	missense variant	-	NC_000007.14:g.101216192C>T	TOPMed
rs763102265	p.Thr159Met	missense variant	-	NC_000007.14:g.101216189G>A	ExAC,TOPMed,gnomAD
rs1434266298	p.Gly160Glu	missense variant	-	NC_000007.14:g.101216186C>T	gnomAD
rs1373431686	p.Gly160Arg	missense variant	-	NC_000007.14:g.101216187C>T	TOPMed
rs1304438447	p.Lys161Arg	missense variant	-	NC_000007.14:g.101216183T>C	TOPMed
rs776951292	p.Arg162Pro	missense variant	-	NC_000007.14:g.101216180C>G	ExAC,TOPMed,gnomAD
rs748424624	p.Arg162Cys	missense variant	-	NC_000007.14:g.101216181G>A	ExAC,gnomAD
rs776951292	p.Arg162His	missense variant	-	NC_000007.14:g.101216180C>T	ExAC,TOPMed,gnomAD
rs769058923	p.Asn165His	missense variant	-	NC_000007.14:g.101216172T>G	ExAC,gnomAD
rs372150950	p.Asn165Ser	missense variant	-	NC_000007.14:g.101216171T>C	ESP,ExAC,TOPMed,gnomAD
rs778605539	p.Ser166Ala	missense variant	-	NC_000007.14:g.101216169A>C	ExAC,gnomAD
rs748706446	p.Gly168Val	missense variant	-	NC_000007.14:g.101216020C>A	ExAC,gnomAD
rs769232014	p.Ile170Leu	missense variant	-	NC_000007.14:g.101216015T>G	ExAC,TOPMed,gnomAD
rs769232014	p.Ile170Val	missense variant	-	NC_000007.14:g.101216015T>C	ExAC,TOPMed,gnomAD
rs373970754	p.Gly171Ser	missense variant	-	NC_000007.14:g.101216012C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly171Cys	missense variant	-	NC_000007.14:g.101216012C>A	NCI-TCGA
rs1429677452	p.Ala173Thr	missense variant	-	NC_000007.14:g.101216006C>T	gnomAD
rs1429677452	p.Ala173Ser	missense variant	-	NC_000007.14:g.101216006C>A	gnomAD
rs754765786	p.Thr174Ala	missense variant	-	NC_000007.14:g.101216003T>C	ExAC,TOPMed,gnomAD
rs201989842	p.Thr175Ile	missense variant	-	NC_000007.14:g.101215999G>A	1000Genomes,ExAC,gnomAD
rs201989842	p.Thr175Ser	missense variant	-	NC_000007.14:g.101215999G>C	1000Genomes,ExAC,gnomAD
rs1170637756	p.Thr175Ala	missense variant	-	NC_000007.14:g.101216000T>C	gnomAD
rs1384901818	p.Ile176Thr	missense variant	-	NC_000007.14:g.101215996A>G	gnomAD
rs1261527835	p.His177Leu	missense variant	-	NC_000007.14:g.101215993T>A	TOPMed
rs34646598	p.Ile179Val	missense variant	-	NC_000007.14:g.101215988T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1483376556	p.Val180Ala	missense variant	-	NC_000007.14:g.101215984A>G	gnomAD
rs765347029	p.Val180Met	missense variant	-	NC_000007.14:g.101215985C>T	ExAC,gnomAD
NCI-TCGA novel	p.Val180Leu	missense variant	-	NC_000007.14:g.101215985C>A	NCI-TCGA
rs761949569	p.Arg181Cys	missense variant	-	NC_000007.14:g.101215982G>A	ExAC,TOPMed,gnomAD
rs764596991	p.Arg181Pro	missense variant	-	NC_000007.14:g.101215981C>G	ExAC,TOPMed,gnomAD
rs764596991	p.Arg181His	missense variant	-	NC_000007.14:g.101215981C>T	ExAC,TOPMed,gnomAD
rs760977710	p.Gln182His	missense variant	-	NC_000007.14:g.101215977C>G	ExAC,gnomAD
rs775954530	p.Trp183Arg	missense variant	-	NC_000007.14:g.101215976A>G	ExAC,gnomAD
COSM3876653	p.Trp183Ter	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.101215974C>T	NCI-TCGA Cosmic
rs1342566048	p.Tyr185His	missense variant	-	NC_000007.14:g.101215970A>G	gnomAD
rs929219335	p.Asp187Gly	missense variant	-	NC_000007.14:g.101215963T>C	TOPMed,gnomAD
rs368287580	p.Asp190Asn	missense variant	-	NC_000007.14:g.101215955C>T	ESP,ExAC,TOPMed,gnomAD
rs35159414	p.Asp190Glu	missense variant	-	NC_000007.14:g.101215953G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143734860	p.Asp191His	missense variant	-	NC_000007.14:g.101215952C>G	ESP,ExAC,TOPMed,gnomAD
rs143734860	p.Asp191Asn	missense variant	-	NC_000007.14:g.101215952C>T	ESP,ExAC,TOPMed,gnomAD
rs768748003	p.Arg197Gly	missense variant	-	NC_000007.14:g.101215934G>C	ExAC,gnomAD
rs768748003	p.Arg197Trp	missense variant	-	NC_000007.14:g.101215934G>A	ExAC,gnomAD
rs746963202	p.Arg197Gln	missense variant	-	NC_000007.14:g.101215933C>T	ExAC,TOPMed,gnomAD
rs779880576	p.Leu198Pro	missense variant	-	NC_000007.14:g.101215930A>G	ExAC,gnomAD
rs1001154230	p.Leu198Phe	missense variant	-	NC_000007.14:g.101215931G>A	TOPMed
rs1045047857	p.Asp201Asn	missense variant	-	NC_000007.14:g.101215922C>T	TOPMed,gnomAD
rs1045047857	p.Asp201Tyr	missense variant	-	NC_000007.14:g.101215922C>A	TOPMed,gnomAD
rs758186099	p.Asp201Glu	missense variant	-	NC_000007.14:g.101215920G>T	ExAC,TOPMed,gnomAD
rs1253948854	p.Pro202Ala	missense variant	-	NC_000007.14:g.101215919G>C	gnomAD
NCI-TCGA novel	p.Pro202Ser	missense variant	-	NC_000007.14:g.101215919G>A	NCI-TCGA
rs750653985	p.Gly203Ala	missense variant	-	NC_000007.14:g.101215915C>G	ExAC,gnomAD
rs779010610	p.Arg205Thr	missense variant	-	NC_000007.14:g.101215909C>G	ExAC,TOPMed,gnomAD
rs915727650	p.Arg205Gly	missense variant	-	NC_000007.14:g.101215910T>C	TOPMed
rs776488125	p.Lys207Ter	stop gained	-	NC_000007.14:g.101215149T>A	ExAC,TOPMed,gnomAD
rs1208519410	p.Lys207Thr	missense variant	-	NC_000007.14:g.101215148T>G	gnomAD
rs373370438	p.Leu208Val	missense variant	-	NC_000007.14:g.101215146G>C	ESP,ExAC,TOPMed,gnomAD
rs370244221	p.Leu208Arg	missense variant	-	NC_000007.14:g.101215145A>C	ESP,ExAC,TOPMed,gnomAD
rs1346461830	p.Ser209Ile	missense variant	-	NC_000007.14:g.101215142C>A	TOPMed
rs140075236	p.His214Leu	missense variant	-	NC_000007.14:g.101215127T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200249528	p.Arg217Gln	missense variant	-	NC_000007.14:g.101215118C>T	gnomAD
rs745633525	p.Arg217Trp	missense variant	-	NC_000007.14:g.101215119G>A	ExAC,TOPMed,gnomAD
rs778033206	p.Asn223Lys	missense variant	-	NC_000007.14:g.101215099G>C	ExAC,gnomAD
rs121434414	p.Asn223Ser	missense variant	-	NC_000007.14:g.101215100T>C	ExAC,TOPMed,gnomAD
rs121434414	p.Asn223Ser	missense variant	Lysyl hydroxylase 3 deficiency (LH3 deficiency)	NC_000007.14:g.101215100T>C	UniProt,dbSNP
VAR_054913	p.Asn223Ser	missense variant	Lysyl hydroxylase 3 deficiency (LH3 deficiency)	NC_000007.14:g.101215100T>C	UniProt
RCV000007022	p.Asn223Ser	missense variant	Bone fragility with contractures, arterial rupture, and deafness	NC_000007.14:g.101215100T>C	ClinVar
rs770760479	p.Asn223His	missense variant	-	NC_000007.14:g.101215101T>G	ExAC,TOPMed,gnomAD
rs377578690	p.Gly224Arg	missense variant	-	NC_000007.14:g.101215098C>G	ESP,ExAC,TOPMed,gnomAD
rs1190952337	p.Gly224Glu	missense variant	-	NC_000007.14:g.101215097C>T	TOPMed
NCI-TCGA novel	p.Ala225Thr	missense variant	-	NC_000007.14:g.101215095C>T	NCI-TCGA
rs1450914625	p.Leu226Ser	missense variant	-	NC_000007.14:g.101215091A>G	gnomAD
rs751428470	p.Asp234Ala	missense variant	-	NC_000007.14:g.101213183T>G	ExAC,gnomAD
rs751428470	p.Asp234Val	missense variant	-	NC_000007.14:g.101213183T>A	ExAC,gnomAD
rs751428470	p.Asp234Gly	missense variant	-	NC_000007.14:g.101213183T>C	ExAC,gnomAD
rs766314490	p.Asp234Glu	missense variant	-	NC_000007.14:g.101213182A>T	ExAC,TOPMed,gnomAD
rs146134980	p.Arg235Trp	missense variant	-	NC_000007.14:g.101213181G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370032502	p.Arg235Gln	missense variant	-	NC_000007.14:g.101213180C>T	ESP,ExAC,TOPMed,gnomAD
rs769682899	p.Asn236Lys	missense variant	-	NC_000007.14:g.101213176G>C	ExAC,gnomAD
rs761931995	p.Arg237Cys	missense variant	-	NC_000007.14:g.101213175G>A	ExAC,TOPMed,gnomAD
rs548652350	p.Arg237His	missense variant	-	NC_000007.14:g.101213174C>T	ExAC,TOPMed,gnomAD
rs768551448	p.Val238Leu	missense variant	-	NC_000007.14:g.101213172C>A	ExAC,TOPMed,gnomAD
rs780659488	p.Arg239His	missense variant	-	NC_000007.14:g.101213168C>T	ExAC,gnomAD
rs747100283	p.Arg239Cys	missense variant	-	NC_000007.14:g.101213169G>A	ExAC,gnomAD
rs772738908	p.Ile240Asn	missense variant	-	NC_000007.14:g.101213165A>T	ExAC,gnomAD
rs141948483	p.Arg241Gln	missense variant	-	NC_000007.14:g.101213162C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757697926	p.Arg241Trp	missense variant	-	NC_000007.14:g.101213163G>A	ExAC,TOPMed,gnomAD
rs375154042	p.Asn242Thr	missense variant	-	NC_000007.14:g.101213159T>G	ESP
rs529683884	p.Val243Met	missense variant	-	NC_000007.14:g.101213157C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs766261555	p.Asp246Asn	missense variant	-	NC_000007.14:g.101213148C>T	ExAC,gnomAD
rs144851657	p.Thr247Met	missense variant	-	NC_000007.14:g.101213144G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144851657	p.Thr247Arg	missense variant	-	NC_000007.14:g.101213144G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1488918915	p.Thr247Ser	missense variant	-	NC_000007.14:g.101213145T>A	gnomAD
rs138687024	p.Ile250Thr	missense variant	-	NC_000007.14:g.101213135A>G	ESP,ExAC,TOPMed,gnomAD
rs149421464	p.Ile250Val	missense variant	-	NC_000007.14:g.101213136T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1299951287	p.Val252Ile	missense variant	-	NC_000007.14:g.101213130C>T	gnomAD
rs1279584601	p.His253Asp	missense variant	-	NC_000007.14:g.101213127G>C	TOPMed
rs764399995	p.Gly256Ser	missense variant	-	NC_000007.14:g.101213118C>T	ExAC,TOPMed,gnomAD
COSM484526	p.Gly256Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.101213117C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro257His	missense variant	-	NC_000007.14:g.101213114G>T	NCI-TCGA
COSM3631364	p.Pro257Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.101213114G>A	NCI-TCGA Cosmic
COSM3631365	p.Pro257Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.101213115G>A	NCI-TCGA Cosmic
rs775683536	p.Thr258Ile	missense variant	-	NC_000007.14:g.101213111G>A	ExAC,TOPMed,gnomAD
COSM6107831	p.Gln261His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.101212938C>A	NCI-TCGA Cosmic
rs778679655	p.Leu262Val	missense variant	-	NC_000007.14:g.101212937G>C	ExAC,gnomAD
rs1397115128	p.Asn263Tyr	missense variant	-	NC_000007.14:g.101212934T>A	gnomAD
rs201390485	p.Asn263Ser	missense variant	-	NC_000007.14:g.101212933T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1354567434	p.Tyr264Ser	missense variant	-	NC_000007.14:g.101212930T>G	TOPMed
NCI-TCGA novel	p.Tyr264Cys	missense variant	-	NC_000007.14:g.101212930T>C	NCI-TCGA
rs1429131620	p.Gly266Glu	missense variant	-	NC_000007.14:g.101212924C>T	gnomAD
rs1306237288	p.Gly266Arg	missense variant	-	NC_000007.14:g.101212925C>T	TOPMed,gnomAD
rs753770645	p.Asn267Lys	missense variant	-	NC_000007.14:g.101212920G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn267Asp	missense variant	-	NC_000007.14:g.101212922T>C	NCI-TCGA
rs377320080	p.Val269Ile	missense variant	-	NC_000007.14:g.101212916C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000761553	p.Pro270Leu	missense variant	Bone fragility with contractures, arterial rupture, and deafness	NC_000007.14:g.101212912G>A	ClinVar
rs535949022	p.Asn271Ser	missense variant	-	NC_000007.14:g.101212909T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1350200360	p.Asn271His	missense variant	-	NC_000007.14:g.101212910T>G	TOPMed
rs1346911680	p.Gly272Ser	missense variant	-	NC_000007.14:g.101212907C>T	gnomAD
rs767861354	p.Trp273Ter	stop gained	-	NC_000007.14:g.101212903C>T	ExAC,gnomAD
rs759484253	p.Trp273Ter	stop gained	-	NC_000007.14:g.101212902C>T	ExAC
rs1188048097	p.Trp273Gly	missense variant	-	NC_000007.14:g.101212904A>C	gnomAD
rs751691127	p.Pro275Leu	missense variant	-	NC_000007.14:g.101212897G>A	ExAC,gnomAD
rs751691127	p.Pro275His	missense variant	-	NC_000007.14:g.101212897G>T	ExAC,gnomAD
rs766407240	p.Glu276Gln	missense variant	-	NC_000007.14:g.101212895C>G	ExAC,gnomAD
rs773777464	p.Gly278Arg	missense variant	-	NC_000007.14:g.101212889C>G	ExAC,gnomAD
rs1257153873	p.Cys279Tyr	missense variant	-	NC_000007.14:g.101212885C>T	TOPMed
COSM1488081	p.Gly280Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.101212882C>G	NCI-TCGA Cosmic
rs762179134	p.Asn283Ser	missense variant	-	NC_000007.14:g.101212873T>C	ExAC,TOPMed,gnomAD
rs770077760	p.Asn283Asp	missense variant	-	NC_000007.14:g.101212874T>C	ExAC,TOPMed,gnomAD
rs775078833	p.Gln284Glu	missense variant	-	NC_000007.14:g.101212871G>C	ExAC,TOPMed,gnomAD
rs771747385	p.Gln284Arg	missense variant	-	NC_000007.14:g.101212870T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln284His	missense variant	-	NC_000007.14:g.101212869C>A	NCI-TCGA
rs1395136416	p.Asp285Asn	missense variant	-	NC_000007.14:g.101212868C>T	TOPMed
rs1134907	p.Arg286Trp	missense variant	-	NC_000007.14:g.101212865G>A	ExAC,TOPMed,gnomAD
rs145743073	p.Arg286Gln	missense variant	-	NC_000007.14:g.101212864C>T	ESP,ExAC,TOPMed,gnomAD
rs1351167439	p.Arg287Lys	missense variant	-	NC_000007.14:g.101212861C>T	gnomAD
rs770403119	p.Thr288Ile	missense variant	-	NC_000007.14:g.101212858G>A	ExAC,TOPMed,gnomAD
rs1385274325	p.Leu289Val	missense variant	-	NC_000007.14:g.101212856G>C	gnomAD
rs1299124702	p.Pro290Ser	missense variant	-	NC_000007.14:g.101212853G>A	gnomAD
rs749241534	p.Pro290Leu	missense variant	-	NC_000007.14:g.101212852G>A	ExAC,gnomAD
rs200279103	p.Gly291Glu	missense variant	-	NC_000007.14:g.101212849C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200279103	p.Gly291Val	missense variant	-	NC_000007.14:g.101212849C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200279103	p.Gly291Ala	missense variant	-	NC_000007.14:g.101212849C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs755911884	p.Gly291Arg	missense variant	-	NC_000007.14:g.101212850C>T	ExAC,gnomAD
rs751775730	p.Gly292Val	missense variant	-	NC_000007.14:g.101212846C>A	ExAC,TOPMed,gnomAD
rs1158264387	p.Gly292Arg	missense variant	-	NC_000007.14:g.101212847C>T	gnomAD
rs751775730	p.Gly292Glu	missense variant	-	NC_000007.14:g.101212846C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln293GlyPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.101212844_101212845insCC	NCI-TCGA
rs746342377	p.Gln293AlaPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.101212844_101212845insC	NCI-TCGA,NCI-TCGA Cosmic
COSM3083053	p.Gln293SerPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000007.14:g.101212845C>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro295Leu	missense variant	-	NC_000007.14:g.101212651G>A	NCI-TCGA
rs143577626	p.Pro296Arg	missense variant	-	NC_000007.14:g.101212648G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143577626	p.Pro296Leu	missense variant	-	NC_000007.14:g.101212648G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143577626	p.Pro296His	missense variant	-	NC_000007.14:g.101212648G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro296Thr	missense variant	-	NC_000007.14:g.101212649G>T	NCI-TCGA
RCV000478234	p.Pro296His	missense variant	-	NC_000007.14:g.101212648G>T	ClinVar
RCV000659081	p.Pro296Arg	missense variant	-	NC_000007.14:g.101212648G>C	ClinVar
rs138002558	p.Arg297Gln	missense variant	-	NC_000007.14:g.101212645C>T	1000Genomes,ESP,TOPMed
rs776439156	p.Arg297Trp	missense variant	-	NC_000007.14:g.101212646G>A	ExAC,TOPMed,gnomAD
rs776439156	p.Arg297Gly	missense variant	-	NC_000007.14:g.101212646G>C	ExAC,TOPMed,gnomAD
rs780620804	p.Arg297GlyPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.101212646G>-	NCI-TCGA,NCI-TCGA Cosmic
rs770446713	p.Arg297ProPheSerTerUnkUnk	frameshift	-	NC_000007.14:g.101212645_101212646insG	NCI-TCGA,NCI-TCGA Cosmic
rs750879311	p.Val298Gly	missense variant	-	NC_000007.14:g.101212642A>C	ExAC,gnomAD
rs1442422055	p.Ala301Val	missense variant	-	NC_000007.14:g.101212633G>A	gnomAD
rs181326069	p.Val302Leu	missense variant	-	NC_000007.14:g.101212631C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs181326069	p.Val302Met	missense variant	-	NC_000007.14:g.101212631C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs920764958	p.Phe303Ile	missense variant	-	NC_000007.14:g.101212628A>T	TOPMed
rs746140976	p.Phe303Leu	missense variant	-	NC_000007.14:g.101212626A>T	ExAC,gnomAD
rs1302476779	p.Val304Ala	missense variant	-	NC_000007.14:g.101212624A>G	TOPMed,gnomAD
rs1274144828	p.Gln306Pro	missense variant	-	NC_000007.14:g.101212618T>G	gnomAD
rs778953333	p.Gln306His	missense variant	-	NC_000007.14:g.101212617C>G	ExAC,gnomAD
rs1363743323	p.Pro307Leu	missense variant	-	NC_000007.14:g.101212615G>A	gnomAD
rs757397555	p.Thr308Ala	missense variant	-	NC_000007.14:g.101212613T>C	ExAC,gnomAD
rs377166799	p.Pro309Leu	missense variant	-	NC_000007.14:g.101212609G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro309Ser	missense variant	-	NC_000007.14:g.101212610G>A	NCI-TCGA
rs764519054	p.Pro309Ala	missense variant	-	NC_000007.14:g.101212610G>C	ExAC
rs1168769480	p.Pro312Thr	missense variant	-	NC_000007.14:g.101212601G>T	gnomAD
rs140299455	p.Arg313Cys	missense variant	-	NC_000007.14:g.101212598G>A	ESP,ExAC,TOPMed,gnomAD
rs764834505	p.Arg313His	missense variant	-	NC_000007.14:g.101212597C>T	ExAC,TOPMed,gnomAD
rs1463452672	p.Gln316Ter	stop gained	-	NC_000007.14:g.101212589G>A	TOPMed
rs373230090	p.Arg317Gln	missense variant	-	NC_000007.14:g.101212585C>T	ESP,ExAC,TOPMed,gnomAD
rs1258773963	p.Arg317Trp	missense variant	-	NC_000007.14:g.101212586G>A	gnomAD
rs1482077436	p.Leu320Phe	missense variant	-	NC_000007.14:g.101212577G>A	TOPMed,gnomAD
rs143194730	p.Leu321Met	missense variant	-	NC_000007.14:g.101212574G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775128872	p.Tyr323Cys	missense variant	-	NC_000007.14:g.101212567T>C	ExAC,gnomAD
rs1309526677	p.Pro324Leu	missense variant	-	NC_000007.14:g.101212564G>A	gnomAD
rs1309526677	p.Pro324His	missense variant	-	NC_000007.14:g.101212564G>T	gnomAD
rs1287440412	p.Pro325Ser	missense variant	-	NC_000007.14:g.101212562G>A	gnomAD
rs771915167	p.Pro325Arg	missense variant	-	NC_000007.14:g.101212561G>C	ExAC,gnomAD
rs1287440412	p.Pro325Ala	missense variant	-	NC_000007.14:g.101212562G>C	gnomAD
rs369736445	p.Asp326Asn	missense variant	-	NC_000007.14:g.101212559C>T	1000Genomes,ESP,TOPMed,gnomAD
rs749345313	p.Arg327Lys	missense variant	-	NC_000007.14:g.101212555C>T	ExAC
rs770938015	p.Arg327Gly	missense variant	-	NC_000007.14:g.101212556T>C	ExAC,TOPMed,gnomAD
rs770938015	p.Arg327Trp	missense variant	-	NC_000007.14:g.101212556T>A	ExAC,TOPMed,gnomAD
rs146795873	p.Val328Leu	missense variant	-	NC_000007.14:g.101212553C>G	ESP,ExAC,TOPMed,gnomAD
rs756547572	p.Thr329Ile	missense variant	-	NC_000007.14:g.101212549G>A	ExAC,gnomAD
rs143574903	p.Leu330Phe	missense variant	-	NC_000007.14:g.101212547G>A	ESP,ExAC,TOPMed,gnomAD
rs143574903	p.Leu330Val	missense variant	-	NC_000007.14:g.101212547G>C	ESP,ExAC,TOPMed,gnomAD
rs1546841	p.Phe331Leu	missense variant	-	NC_000007.14:g.101212542G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755459809	p.Phe331Ser	missense variant	-	NC_000007.14:g.101212543A>G	ExAC,TOPMed,gnomAD
rs761366791	p.His333Asp	missense variant	-	NC_000007.14:g.101212538G>C	ExAC,gnomAD
rs1175496342	p.Val337Phe	missense variant	-	NC_000007.14:g.101212371C>A	TOPMed,gnomAD
rs1175496342	p.Val337Leu	missense variant	-	NC_000007.14:g.101212371C>G	TOPMed,gnomAD
rs763073092	p.Glu340Gln	missense variant	-	NC_000007.14:g.101212362C>G	ExAC,TOPMed,gnomAD
rs773548323	p.Glu340Ala	missense variant	-	NC_000007.14:g.101212361T>G	ExAC,gnomAD
rs773548323	p.Glu340Gly	missense variant	-	NC_000007.14:g.101212361T>C	ExAC,gnomAD
rs1367626435	p.Pro341Arg	missense variant	-	NC_000007.14:g.101212358G>C	gnomAD
rs1164013477	p.His342Tyr	missense variant	-	NC_000007.14:g.101212356G>A	gnomAD
rs1318508025	p.Ile343Val	missense variant	-	NC_000007.14:g.101212353T>C	TOPMed
rs145247929	p.Ala344Thr	missense variant	-	NC_000007.14:g.101212350C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145247929	p.Ala344Pro	missense variant	-	NC_000007.14:g.101212350C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1482274825	p.Asp345Ala	missense variant	-	NC_000007.14:g.101212346T>G	gnomAD
rs777240572	p.Ser346Thr	missense variant	-	NC_000007.14:g.101212344A>T	ExAC,gnomAD
rs150001477	p.Ser346Phe	missense variant	-	NC_000007.14:g.101212343G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150001477	p.Ser346Cys	missense variant	-	NC_000007.14:g.101212343G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780555355	p.Pro348Leu	missense variant	-	NC_000007.14:g.101212337G>A	ExAC,TOPMed,gnomAD
rs1349459565	p.Pro348Ala	missense variant	-	NC_000007.14:g.101212338G>C	gnomAD
rs780555355	p.Pro348Arg	missense variant	-	NC_000007.14:g.101212337G>C	ExAC,TOPMed,gnomAD
rs777497883	p.Gln349Ter	stop gained	-	NC_000007.14:g.101212335G>A	ExAC,gnomAD
rs1296825015	p.Leu350Phe	missense variant	-	NC_000007.14:g.101212332G>A	gnomAD
rs755527280	p.Gln351Arg	missense variant	-	NC_000007.14:g.101212328T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp352Tyr	missense variant	-	NC_000007.14:g.101212326C>A	NCI-TCGA
rs980369351	p.Asp352Asn	missense variant	-	NC_000007.14:g.101212326C>T	TOPMed,gnomAD
rs1429416587	p.Lys358Asn	missense variant	-	NC_000007.14:g.101212306C>A	gnomAD
rs767050732	p.Lys358Glu	missense variant	-	NC_000007.14:g.101212308T>C	ExAC,gnomAD
rs183884043	p.Val360Leu	missense variant	-	NC_000007.14:g.101212302C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs183884043	p.Val360Met	missense variant	-	NC_000007.14:g.101212302C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly361Val	missense variant	-	NC_000007.14:g.101212298C>A	NCI-TCGA
rs201666755	p.Pro362Leu	missense variant	-	NC_000007.14:g.101212295G>A	ESP,ExAC,TOPMed,gnomAD
rs372042667	p.Glu363Asp	missense variant	-	NC_000007.14:g.101212291C>A	ESP,ExAC,TOPMed,gnomAD
rs150873622	p.Ala365Thr	missense variant	-	NC_000007.14:g.101212287C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1252225138	p.Leu366Pro	missense variant	-	NC_000007.14:g.101212283A>G	gnomAD
rs747517564	p.Pro368Ser	missense variant	-	NC_000007.14:g.101212278G>A	ExAC,gnomAD
rs772269466	p.Glu370Lys	missense variant	-	NC_000007.14:g.101212272C>T	ExAC,TOPMed,gnomAD
rs746263060	p.Ala371Val	missense variant	-	NC_000007.14:g.101212268G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp373Tyr	missense variant	-	NC_000007.14:g.101212263C>A	NCI-TCGA
rs747843071	p.Met374Val	missense variant	-	NC_000007.14:g.101212260T>C	ExAC,gnomAD
rs1008989119	p.Met374Thr	missense variant	-	NC_000007.14:g.101212259A>G	TOPMed
rs1300144646	p.Met374Ile	missense variant	-	NC_000007.14:g.101212258C>T	TOPMed,gnomAD
rs747843071	p.Met374Leu	missense variant	-	NC_000007.14:g.101212260T>G	ExAC,gnomAD
rs376124107	p.Ala375Asp	missense variant	-	NC_000007.14:g.101212256G>T	ESP,ExAC,gnomAD
rs376124107	p.Ala375Val	missense variant	-	NC_000007.14:g.101212256G>A	ESP,ExAC,gnomAD
rs751428849	p.Met376Thr	missense variant	-	NC_000007.14:g.101212253A>G	ExAC,gnomAD
rs1231291965	p.Met376Ile	missense variant	-	NC_000007.14:g.101211950C>T	gnomAD
rs754058543	p.Asp377Asn	missense variant	-	NC_000007.14:g.101211949C>T	ExAC,TOPMed,gnomAD
rs769885658	p.Asp377Glu	missense variant	-	NC_000007.14:g.101211947G>T	TOPMed,gnomAD
rs764437988	p.Cys379Ser	missense variant	-	NC_000007.14:g.101211942C>G	ExAC,TOPMed,gnomAD
rs760793807	p.Arg380Gln	missense variant	-	NC_000007.14:g.101211939C>T	ExAC,TOPMed,gnomAD
rs1362778232	p.Arg380Trp	missense variant	-	NC_000007.14:g.101211940G>A	gnomAD
rs1401277634	p.Gln381Ter	stop gained	-	NC_000007.14:g.101211937G>A	TOPMed,gnomAD
rs1161160350	p.Gln381Arg	missense variant	-	NC_000007.14:g.101211936T>C	TOPMed
rs41281013	p.Asp382His	missense variant	-	NC_000007.14:g.101211934C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000508323	p.Asp382His	missense variant	-	NC_000007.14:g.101211934C>G	ClinVar
rs760071769	p.Glu384Lys	missense variant	-	NC_000007.14:g.101211928C>T	ExAC,gnomAD
rs141016387	p.Glu386Lys	missense variant	-	NC_000007.14:g.101211922C>T	ESP,ExAC
rs763320315	p.Phe387Cys	missense variant	-	NC_000007.14:g.101211918A>C	ExAC,gnomAD
rs1195395005	p.Tyr388Asp	missense variant	-	NC_000007.14:g.101211916A>C	gnomAD
NCI-TCGA novel	p.Ser390Ile	missense variant	-	NC_000007.14:g.101211909C>A	NCI-TCGA
rs1448120768	p.Leu391Pro	missense variant	-	NC_000007.14:g.101211906A>G	TOPMed,gnomAD
rs372590450	p.Ala393Ser	missense variant	-	NC_000007.14:g.101211901C>A	ESP,ExAC,TOPMed,gnomAD
rs372590450	p.Ala393Pro	missense variant	-	NC_000007.14:g.101211901C>G	ESP,ExAC,TOPMed,gnomAD
rs1340362825	p.Ala393Gly	missense variant	-	NC_000007.14:g.101211900G>C	gnomAD
rs372590450	p.Ala393Thr	missense variant	-	NC_000007.14:g.101211901C>T	ESP,ExAC,TOPMed,gnomAD
rs771549876	p.Asp394Asn	missense variant	-	NC_000007.14:g.101211898C>T	ExAC,gnomAD
rs969774203	p.Ala395Thr	missense variant	-	NC_000007.14:g.101211895C>T	gnomAD
rs778731070	p.Val396Ile	missense variant	-	NC_000007.14:g.101211892C>T	ExAC,gnomAD
rs757073563	p.Thr398Asn	missense variant	-	NC_000007.14:g.101211885G>T	ExAC,gnomAD
rs749129317	p.Asn399Asp	missense variant	-	NC_000007.14:g.101211883T>C	ExAC,gnomAD
rs777747589	p.Asn399Ile	missense variant	-	NC_000007.14:g.101211882T>A	ExAC,TOPMed,gnomAD
rs777747589	p.Asn399Ser	missense variant	-	NC_000007.14:g.101211882T>C	ExAC,TOPMed,gnomAD
rs1231134106	p.Leu400Gln	missense variant	-	NC_000007.14:g.101211879A>T	gnomAD
rs1417773286	p.Thr402Ile	missense variant	-	NC_000007.14:g.101211873G>A	gnomAD
rs1167745425	p.Leu403Met	missense variant	-	NC_000007.14:g.101211871G>T	TOPMed,gnomAD
rs137857342	p.Arg404His	missense variant	-	NC_000007.14:g.101211867C>T	ESP,ExAC,TOPMed,gnomAD
rs143428253	p.Arg404Cys	missense variant	-	NC_000007.14:g.101211868G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg404Leu	missense variant	-	NC_000007.14:g.101211867C>A	NCI-TCGA
NCI-TCGA novel	p.Arg404Ser	missense variant	-	NC_000007.14:g.101211868G>T	NCI-TCGA
NCI-TCGA novel	p.Ile405Val	missense variant	-	NC_000007.14:g.101211865T>C	NCI-TCGA
rs1485354450	p.Leu406Phe	missense variant	-	NC_000007.14:g.101211862G>A	gnomAD
rs1258391591	p.Leu406His	missense variant	-	NC_000007.14:g.101211861A>T	TOPMed,gnomAD
rs766893581	p.Ile407Thr	missense variant	-	NC_000007.14:g.101211858A>G	ExAC,TOPMed,gnomAD
rs750765078	p.Arg411Gly	missense variant	-	NC_000007.14:g.101211847T>C	gnomAD
rs921756908	p.Lys412Asn	missense variant	-	NC_000007.14:g.101211713C>G	TOPMed
rs749230902	p.Lys412Arg	missense variant	-	NC_000007.14:g.101211714T>C	ExAC,gnomAD
rs1402547463	p.Val413Met	missense variant	-	NC_000007.14:g.101211712C>T	gnomAD
rs144508814	p.Ala415Ser	missense variant	-	NC_000007.14:g.101211706C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781436353	p.Ala415Asp	missense variant	-	NC_000007.14:g.101211705G>T	ExAC,gnomAD
rs144508814	p.Ala415Thr	missense variant	-	NC_000007.14:g.101211706C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1184706399	p.Pro416Leu	missense variant	-	NC_000007.14:g.101211702G>A	gnomAD
rs1341074530	p.Met417Val	missense variant	-	NC_000007.14:g.101211700T>C	TOPMed
rs747314273	p.Ser419Pro	missense variant	-	NC_000007.14:g.101211694A>G	ExAC,gnomAD
rs780103868	p.Ser419Phe	missense variant	-	NC_000007.14:g.101211693G>A	ExAC,gnomAD
rs367797717	p.Arg420Cys	missense variant	-	NC_000007.14:g.101211691G>A	ESP,ExAC,TOPMed,gnomAD
rs750873977	p.Arg420His	missense variant	-	NC_000007.14:g.101211690C>T	ExAC,gnomAD
rs1349033886	p.His421Tyr	missense variant	-	NC_000007.14:g.101211688G>A	gnomAD
rs779421418	p.His421Arg	missense variant	-	NC_000007.14:g.101211687T>C	ExAC,TOPMed,gnomAD
rs754125482	p.Gly422Val	missense variant	-	NC_000007.14:g.101211684C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly422Cys	missense variant	-	NC_000007.14:g.101211685C>A	NCI-TCGA
rs1361810564	p.Gly422Ser	missense variant	-	NC_000007.14:g.101211685C>T	TOPMed,gnomAD
rs759093145	p.Trp425Arg	missense variant	-	NC_000007.14:g.101211676A>G	ExAC,gnomAD
rs751321650	p.Asn427Ser	missense variant	-	NC_000007.14:g.101211669T>C	ExAC,gnomAD
rs1186812422	p.Phe428Leu	missense variant	-	NC_000007.14:g.101211665G>C	TOPMed
NCI-TCGA novel	p.Trp429Cys	missense variant	-	NC_000007.14:g.101211662C>A	NCI-TCGA
rs1435642015	p.Trp429Ter	stop gained	-	NC_000007.14:g.101211663C>T	gnomAD
rs1396630720	p.Gly430Ser	missense variant	-	NC_000007.14:g.101211661C>T	gnomAD
rs765917145	p.Gly430Asp	missense variant	-	NC_000007.14:g.101211660C>T	ExAC,gnomAD
rs765917145	p.Gly430Val	missense variant	-	NC_000007.14:g.101211660C>A	ExAC,gnomAD
rs149262948	p.Ala431Asp	missense variant	-	NC_000007.14:g.101211657G>T	ESP,TOPMed,gnomAD
rs529293492	p.Ala431Ser	missense variant	-	NC_000007.14:g.101211658C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs529293492	p.Ala431Thr	missense variant	-	NC_000007.14:g.101211658C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs149262948	p.Ala431Val	missense variant	-	NC_000007.14:g.101211657G>A	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Leu432Ter	frameshift	-	NC_000007.14:g.101211655G>-	NCI-TCGA
rs761849842	p.Ser433Ile	missense variant	-	NC_000007.14:g.101211651C>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro434Leu	missense variant	-	NC_000007.14:g.101211648G>A	NCI-TCGA
rs192851267	p.Asp435Asn	missense variant	-	NC_000007.14:g.101211646C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1044539662	p.Asp435Ala	missense variant	-	NC_000007.14:g.101211645T>G	TOPMed,gnomAD
rs371224746	p.Asp435Glu	missense variant	-	NC_000007.14:g.101211644A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780270243	p.Glu436Gly	missense variant	-	NC_000007.14:g.101211642T>C	ExAC,gnomAD
rs1296844399	p.Tyr437Cys	missense variant	-	NC_000007.14:g.101211639T>C	gnomAD
rs138610113	p.Ala439Pro	missense variant	-	NC_000007.14:g.101211634C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138610113	p.Ala439Thr	missense variant	-	NC_000007.14:g.101211634C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1312397134	p.Ala439Val	missense variant	-	NC_000007.14:g.101211633G>A	gnomAD
rs757687149	p.Arg440Cys	missense variant	-	NC_000007.14:g.101211631G>A	ExAC,TOPMed,gnomAD
rs368088563	p.Arg440His	missense variant	-	NC_000007.14:g.101211630C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368088563	p.Arg440Pro	missense variant	-	NC_000007.14:g.101211630C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs935807855	p.Glu442Asp	missense variant	-	NC_000007.14:g.101211623C>A	TOPMed,gnomAD
rs543048444	p.Glu442Lys	missense variant	-	NC_000007.14:g.101211625C>T	TOPMed
rs1206697382	p.Glu442Val	missense variant	-	NC_000007.14:g.101211624T>A	TOPMed
rs1468924143	p.Asp443Asn	missense variant	-	NC_000007.14:g.101211622C>T	TOPMed
rs923589148	p.Val445Met	missense variant	-	NC_000007.14:g.101211616C>T	TOPMed,gnomAD
rs1416493577	p.Val448Ala	missense variant	-	NC_000007.14:g.101211606A>G	gnomAD
rs766150931	p.Arg450Trp	missense variant	-	NC_000007.14:g.101211601G>A	ExAC,TOPMed,gnomAD
rs373909940	p.Arg450Gln	missense variant	-	NC_000007.14:g.101211600C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749921338	p.Arg452Gly	missense variant	-	NC_000007.14:g.101211595G>C	ExAC,TOPMed,gnomAD
rs370762684	p.Arg452Gln	missense variant	-	NC_000007.14:g.101211594C>T	ESP,ExAC,TOPMed,gnomAD
rs749921338	p.Arg452Ter	stop gained	-	NC_000007.14:g.101211595G>A	ExAC,TOPMed,gnomAD
rs370762684	p.Arg452Pro	missense variant	-	NC_000007.14:g.101211594C>G	ESP,ExAC,TOPMed,gnomAD
RCV000757676	p.Arg452Gln	missense variant	-	NC_000007.14:g.101211594C>T	ClinVar
VAR_082150	p.Arg452_Pro738del	inframe_deletion	Lysyl hydroxylase 3 deficiency (LH3 deficiency) [MIM:612394]	-	UniProt
COSM3876649	p.Val455Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.101210669C>T	NCI-TCGA Cosmic
rs763646130	p.Trp456Cys	missense variant	-	NC_000007.14:g.101210664C>A	ExAC,TOPMed,gnomAD
rs1303928482	p.Pro459Leu	missense variant	-	NC_000007.14:g.101210656G>A	gnomAD
rs756035426	p.Tyr460Ter	stop gained	-	NC_000007.14:g.101210652G>C	ExAC,TOPMed,gnomAD
rs150135216	p.Ala464Thr	missense variant	-	NC_000007.14:g.101210642C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201711445	p.Tyr465Phe	missense variant	-	NC_000007.14:g.101210638T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201711445	p.Tyr465Cys	missense variant	-	NC_000007.14:g.101210638T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs763124181	p.Arg468Gln	missense variant	-	NC_000007.14:g.101210629C>T	ExAC,gnomAD
rs75592752	p.Arg468Gly	missense variant	-	NC_000007.14:g.101210630G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000757674	p.Arg468Gly	missense variant	-	NC_000007.14:g.101210630G>C	ClinVar
rs75592752	p.Arg468Trp	missense variant	-	NC_000007.14:g.101210630G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1171354354	p.Asp470Glu	missense variant	-	NC_000007.14:g.101210622A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Asp470Asn	missense variant	-	NC_000007.14:g.101210624C>T	NCI-TCGA
rs1394829775	p.Leu472Pro	missense variant	-	NC_000007.14:g.101210617A>G	gnomAD
rs762343753	p.Arg473Gln	missense variant	-	NC_000007.14:g.101210614C>T	ExAC,TOPMed,gnomAD
rs770056635	p.Arg473Trp	missense variant	-	NC_000007.14:g.101210615G>A	ExAC,TOPMed,gnomAD
rs1026852275	p.Met474Leu	missense variant	-	NC_000007.14:g.101210612T>A	TOPMed,gnomAD
rs1026852275	p.Met474Val	missense variant	-	NC_000007.14:g.101210612T>C	TOPMed,gnomAD
rs757612083	p.Glu475Gly	missense variant	-	NC_000007.14:g.101210608T>C	ExAC,TOPMed,gnomAD
rs757612083	p.Glu475Ala	missense variant	-	NC_000007.14:g.101210608T>G	ExAC,TOPMed,gnomAD
rs747434475	p.Gln478Arg	missense variant	-	NC_000007.14:g.101210599T>C	ExAC,gnomAD
rs769095247	p.Gln478Ter	stop gained	-	NC_000007.14:g.101210600G>A	ExAC,gnomAD
rs769095247	p.Gln478Glu	missense variant	-	NC_000007.14:g.101210600G>C	ExAC,gnomAD
rs1026679538	p.Val481Met	missense variant	-	NC_000007.14:g.101210591C>T	TOPMed
rs993367504	p.Phe482Val	missense variant	-	NC_000007.14:g.101210588A>C	TOPMed
rs376119433	p.Ser483Pro	missense variant	-	NC_000007.14:g.101210585A>G	ESP,ExAC,TOPMed,gnomAD
rs376119433	p.Ser483Ala	missense variant	-	NC_000007.14:g.101210585A>C	ESP,ExAC,TOPMed,gnomAD
rs143759215	p.Ser483Leu	missense variant	-	NC_000007.14:g.101210584G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1297467796	p.Gly484Val	missense variant	-	NC_000007.14:g.101210581C>A	TOPMed
rs1230154740	p.Asp486Gly	missense variant	-	NC_000007.14:g.101210575T>C	TOPMed
rs752570077	p.Thr487Ile	missense variant	-	NC_000007.14:g.101210572G>A	ExAC
rs145508748	p.Pro489Leu	missense variant	-	NC_000007.14:g.101210566G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000757677	p.Pro489Leu	missense variant	-	NC_000007.14:g.101210566G>A	ClinVar
NCI-TCGA novel	p.Asp490His	missense variant	-	NC_000007.14:g.101210564C>G	NCI-TCGA
rs1310590625	p.Met491Val	missense variant	-	NC_000007.14:g.101210561T>C	TOPMed,gnomAD
rs369969073	p.Ala492Val	missense variant	-	NC_000007.14:g.101210557G>A	ESP,ExAC,TOPMed,gnomAD
rs191441470	p.Cys494Arg	missense variant	-	NC_000007.14:g.101210552A>G	1000Genomes,ExAC,gnomAD
rs777238858	p.Arg498Gln	missense variant	-	NC_000007.14:g.101210539C>T	ExAC,gnomAD
rs762008131	p.Arg498Ter	stop gained	-	NC_000007.14:g.101210540G>A	ExAC,TOPMed,gnomAD
rs1054482083	p.Asp499Asn	missense variant	-	NC_000007.14:g.101210537C>T	TOPMed
rs769256913	p.Asp499Gly	missense variant	-	NC_000007.14:g.101210536T>C	ExAC,gnomAD
rs1054482083	p.Asp499His	missense variant	-	NC_000007.14:g.101210537C>G	TOPMed
rs1318174260	p.Lys500Asn	missense variant	-	NC_000007.14:g.101210532C>G	gnomAD
rs1167148560	p.Leu506Val	missense variant	-	NC_000007.14:g.101210429G>C	TOPMed
rs747845058	p.Gln509Arg	missense variant	-	NC_000007.14:g.101210419T>C	ExAC,TOPMed,gnomAD
rs35929039	p.His510Tyr	missense variant	-	NC_000007.14:g.101210417G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000507284	p.His510Tyr	missense variant	-	NC_000007.14:g.101210417G>A	ClinVar
rs202167843	p.Arg514Gln	missense variant	-	NC_000007.14:g.101210404C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg514Gly	missense variant	-	NC_000007.14:g.101210405G>C	NCI-TCGA
rs746896780	p.Arg514Trp	missense variant	-	NC_000007.14:g.101210405G>A	ExAC,TOPMed,gnomAD
rs758172509	p.Leu515Phe	missense variant	-	NC_000007.14:g.101210402G>A	ExAC,gnomAD
rs745629617	p.Ala517Val	missense variant	-	NC_000007.14:g.101210395G>A	ExAC,gnomAD
rs142888598	p.Thr518Asn	missense variant	-	NC_000007.14:g.101210392G>T	ESP
rs1159485050	p.Ser519Cys	missense variant	-	NC_000007.14:g.101210389G>C	gnomAD
rs757537488	p.Arg520Thr	missense variant	-	NC_000007.14:g.101210386C>G	ExAC,TOPMed,gnomAD
COSM1673409	p.Arg520Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.101210386C>A	NCI-TCGA Cosmic
rs754177160	p.Tyr521Cys	missense variant	-	NC_000007.14:g.101210383T>C	ExAC,TOPMed,gnomAD
rs756157359	p.Asp522Asn	missense variant	-	NC_000007.14:g.101210381C>T	ExAC,TOPMed,gnomAD
rs202176617	p.Thr523Met	missense variant	-	NC_000007.14:g.101210377G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1208860656	p.Pro528Ala	missense variant	-	NC_000007.14:g.101210363G>C	TOPMed
rs766789252	p.Asp529Asn	missense variant	-	NC_000007.14:g.101210360C>T	ExAC,gnomAD
rs766789252	p.Asp529Tyr	missense variant	-	NC_000007.14:g.101210360C>A	ExAC,gnomAD
rs761452213	p.Trp531Arg	missense variant	-	NC_000007.14:g.101210354A>G	ExAC,gnomAD
rs768164152	p.Phe534Leu	missense variant	-	NC_000007.14:g.101210343G>C	ExAC,TOPMed,gnomAD
rs1000275756	p.Asp535Asn	missense variant	-	NC_000007.14:g.101210342C>T	TOPMed
rs1247072000	p.Asn536Ser	missense variant	-	NC_000007.14:g.101210338T>C	TOPMed
rs746531692	p.Pro537Ser	missense variant	-	NC_000007.14:g.101210336G>A	ExAC,gnomAD
rs1295837681	p.Pro537His	missense variant	-	NC_000007.14:g.101210335G>T	gnomAD
rs779997156	p.Val538Ile	missense variant	-	NC_000007.14:g.101210333C>T	TOPMed
rs1296288542	p.Gln543Glu	missense variant	-	NC_000007.14:g.101210149G>C	gnomAD
rs986773012	p.Ile545Met	missense variant	-	NC_000007.14:g.101210141G>C	TOPMed,gnomAD
rs1400897440	p.His546Tyr	missense variant	-	NC_000007.14:g.101210140G>A	gnomAD
rs1400897440	p.His546Asn	missense variant	-	NC_000007.14:g.101210140G>T	gnomAD
RCV000513344	p.His546Asn	missense variant	-	NC_000007.14:g.101210140G>T	ClinVar
rs557730054	p.Glu547Gln	missense variant	-	NC_000007.14:g.101210137C>G	ExAC,TOPMed,gnomAD
rs557730054	p.Glu547Lys	missense variant	-	NC_000007.14:g.101210137C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu547Val	missense variant	-	NC_000007.14:g.101210136T>A	NCI-TCGA
rs767074045	p.Arg551Pro	missense variant	-	NC_000007.14:g.101210124C>G	ExAC,TOPMed,gnomAD
rs767074045	p.Arg551Gln	missense variant	-	NC_000007.14:g.101210124C>T	ExAC,TOPMed,gnomAD
rs144815295	p.Arg551Trp	missense variant	-	NC_000007.14:g.101210125G>A	ESP,ExAC,TOPMed,gnomAD
rs1030637039	p.Ala552Val	missense variant	-	NC_000007.14:g.101210121G>A	TOPMed,gnomAD
rs1201136098	p.Glu554Asp	missense variant	-	NC_000007.14:g.101210114T>G	gnomAD
rs1259200689	p.Glu554Val	missense variant	-	NC_000007.14:g.101210115T>A	gnomAD
rs1332762837	p.Glu556Lys	missense variant	-	NC_000007.14:g.101210110C>T	gnomAD
rs759134661	p.Gly557Arg	missense variant	-	NC_000007.14:g.101210107C>T	ExAC,TOPMed,gnomAD
rs774395330	p.Ile558Val	missense variant	-	NC_000007.14:g.101210104T>C	ExAC,TOPMed,gnomAD
rs746812876	p.Val559Met	missense variant	-	NC_000007.14:g.101210101C>T	ExAC,TOPMed,gnomAD
RCV000762471	p.Val559Met	missense variant	-	NC_000007.14:g.101210101C>T	ClinVar
rs140879834	p.Glu560Gln	missense variant	-	NC_000007.14:g.101210098C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769699387	p.Glu560Gly	missense variant	-	NC_000007.14:g.101210097T>C	ExAC,TOPMed,gnomAD
RCV000762470	p.Glu560Gln	missense variant	-	NC_000007.14:g.101210098C>G	ClinVar
rs942963557	p.Gln561Pro	missense variant	-	NC_000007.14:g.101210094T>G	TOPMed
rs369002471	p.Pro562Ser	missense variant	-	NC_000007.14:g.101208957G>A	ESP,ExAC,gnomAD
rs779493601	p.Cys563Phe	missense variant	-	NC_000007.14:g.101208953C>A	ExAC,gnomAD
rs757518820	p.Pro564Ser	missense variant	-	NC_000007.14:g.101208951G>A	ExAC,TOPMed,gnomAD
rs749637576	p.Pro564Leu	missense variant	-	NC_000007.14:g.101208950G>A	ExAC,TOPMed,gnomAD
rs754667665	p.Asp565Asn	missense variant	-	NC_000007.14:g.101208948C>T	ExAC,gnomAD
rs765922998	p.Val566Met	missense variant	-	NC_000007.14:g.101208945C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val566Gly	missense variant	-	NC_000007.14:g.101208944A>C	NCI-TCGA
rs1402021091	p.Phe569Leu	missense variant	-	NC_000007.14:g.101208934G>T	gnomAD
rs372579198	p.Glu574Asp	missense variant	-	NC_000007.14:g.101208919T>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu574Ter	stop gained	-	NC_000007.14:g.101208921C>A	NCI-TCGA
rs1196239419	p.Met576Ile	missense variant	-	NC_000007.14:g.101208913C>A	TOPMed
rs1479316619	p.Met576Thr	missense variant	-	NC_000007.14:g.101208914A>G	gnomAD
NCI-TCGA novel	p.Ala582Ser	missense variant	-	NC_000007.14:g.101208897C>A	NCI-TCGA
COSM743515	p.Glu583Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000007.14:g.101208894C>G	NCI-TCGA Cosmic
rs1261978561	p.Met584Ile	missense variant	-	NC_000007.14:g.101208889C>T	TOPMed,gnomAD
rs1192988536	p.Met584Thr	missense variant	-	NC_000007.14:g.101208890A>G	gnomAD
NCI-TCGA novel	p.His586Leu	missense variant	-	NC_000007.14:g.101208884T>A	NCI-TCGA
rs147326916	p.His586Asp	missense variant	-	NC_000007.14:g.101208885G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1441627968	p.Gly588Ser	missense variant	-	NC_000007.14:g.101208879C>T	TOPMed,gnomAD
rs1279114162	p.Gln589Arg	missense variant	-	NC_000007.14:g.101208875T>C	gnomAD
rs761705323	p.Trp590Ter	stop gained	-	NC_000007.14:g.101208871C>T	ExAC,gnomAD
rs1202087178	p.Trp590Arg	missense variant	-	NC_000007.14:g.101208873A>G	gnomAD
rs531449765	p.Gly593Arg	missense variant	-	NC_000007.14:g.101208864C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs760819096	p.Gly593Asp	missense variant	-	NC_000007.14:g.101208863C>T	ExAC,TOPMed,gnomAD
rs531449765	p.Gly593Ser	missense variant	-	NC_000007.14:g.101208864C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs760819096	p.Gly593Val	missense variant	-	NC_000007.14:g.101208863C>A	ExAC,TOPMed,gnomAD
rs745986631	p.Arg594Leu	missense variant	-	NC_000007.14:g.101208860C>A	ExAC,TOPMed,gnomAD
rs369393050	p.Arg594Trp	missense variant	-	NC_000007.14:g.101208861G>A	ESP,ExAC,TOPMed,gnomAD
rs745986631	p.Arg594Gln	missense variant	-	NC_000007.14:g.101208860C>T	ExAC,TOPMed,gnomAD
rs774330683	p.His595Tyr	missense variant	-	NC_000007.14:g.101208858G>A	ExAC,gnomAD
rs200275391	p.Arg599Trp	missense variant	-	NC_000007.14:g.101207718T>A	1000Genomes
rs139049819	p.Arg599Ser	missense variant	-	NC_000007.14:g.101207716C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1351922678	p.Gly602Val	missense variant	-	NC_000007.14:g.101207708C>A	gnomAD
rs1241357246	p.Glu605Lys	missense variant	-	NC_000007.14:g.101207700C>T	gnomAD
rs756081191	p.Asn606Lys	missense variant	-	NC_000007.14:g.101207695A>C	ExAC,TOPMed,gnomAD
rs756081191	p.Asn606Lys	missense variant	-	NC_000007.14:g.101207695A>T	ExAC,TOPMed,gnomAD
rs367756400	p.Val610Met	missense variant	-	NC_000007.14:g.101207685C>T	ESP,ExAC,TOPMed,gnomAD
rs767277255	p.Ile612Phe	missense variant	-	NC_000007.14:g.101207679T>A	ExAC,gnomAD
rs1325772829	p.Met614Val	missense variant	-	NC_000007.14:g.101207673T>C	gnomAD
NCI-TCGA novel	p.Lys615Asn	missense variant	-	NC_000007.14:g.101207668C>A	NCI-TCGA
rs1418147986	p.Val617Leu	missense variant	-	NC_000007.14:g.101207664C>A	gnomAD
NCI-TCGA novel	p.Gly618Trp	missense variant	-	NC_000007.14:g.101207661C>A	NCI-TCGA
rs201613747	p.Glu620Lys	missense variant	-	NC_000007.14:g.101207655C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs770394017	p.Gln622Arg	missense variant	-	NC_000007.14:g.101207648T>C	ExAC,gnomAD
rs762468045	p.Gln622His	missense variant	-	NC_000007.14:g.101207647C>G	ExAC,gnomAD
rs773815193	p.Gln622Ter	stop gained	-	NC_000007.14:g.101207649G>A	ExAC,gnomAD
rs1213976958	p.Trp623Ter	stop gained	-	NC_000007.14:g.101207644C>T	gnomAD
rs777049170	p.Gln625Arg	missense variant	-	NC_000007.14:g.101207639T>C	ExAC,TOPMed,gnomAD
rs148219926	p.Arg628Gln	missense variant	-	NC_000007.14:g.101207630C>T	ESP,ExAC,TOPMed,gnomAD
rs1034818885	p.Arg628Trp	missense variant	-	NC_000007.14:g.101207631G>A	TOPMed,gnomAD
rs74498833	p.Thr629Met	missense variant	-	NC_000007.14:g.101207627G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748105435	p.Tyr630Ter	stop gained	-	NC_000007.14:g.101207623A>C	ExAC,TOPMed,gnomAD
rs748761204	p.Tyr630His	missense variant	-	NC_000007.14:g.101207625A>G	ExAC,gnomAD
rs756035407	p.Tyr630Phe	missense variant	-	NC_000007.14:g.101207624T>A	ExAC,TOPMed,gnomAD
rs756035407	p.Tyr630Ser	missense variant	-	NC_000007.14:g.101207624T>G	ExAC,TOPMed,gnomAD
rs756035407	p.Tyr630Cys	missense variant	-	NC_000007.14:g.101207624T>C	ExAC,TOPMed,gnomAD
RCV000490386	p.Tyr630Ter	nonsense	Bone fragility with contractures, arterial rupture, and deafness	NC_000007.14:g.101207623A>C	ClinVar
rs780976934	p.Gly632Ser	missense variant	-	NC_000007.14:g.101207619C>T	ExAC,gnomAD
rs531587667	p.Met634Val	missense variant	-	NC_000007.14:g.101207613T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs202064184	p.Thr635Ile	missense variant	-	NC_000007.14:g.101207609G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200112480	p.Glu636Lys	missense variant	-	NC_000007.14:g.101207607C>T	ExAC,TOPMed,gnomAD
rs755547790	p.Ser637Thr	missense variant	-	NC_000007.14:g.101207603C>G	ExAC,TOPMed,gnomAD
rs755547790	p.Ser637Ile	missense variant	-	NC_000007.14:g.101207603C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser637Gly	missense variant	-	NC_000007.14:g.101207604T>C	NCI-TCGA
NCI-TCGA novel	p.Leu638Met	missense variant	-	NC_000007.14:g.101207601G>T	NCI-TCGA
rs764469361	p.Pro640Ala	missense variant	-	NC_000007.14:g.101207595G>C	ExAC,gnomAD
rs764469361	p.Pro640Ser	missense variant	-	NC_000007.14:g.101207595G>A	ExAC,gnomAD
rs775960819	p.Gly641Ser	missense variant	-	NC_000007.14:g.101207592C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr644Ile	missense variant	-	NC_000007.14:g.101207582G>A	NCI-TCGA
rs368456141	p.Ala646Val	missense variant	-	NC_000007.14:g.101206903G>A	ESP,ExAC,gnomAD
rs1197561363	p.Ala646Thr	missense variant	-	NC_000007.14:g.101206904C>T	gnomAD
rs368456141	p.Ala646Gly	missense variant	-	NC_000007.14:g.101206903G>C	ESP,ExAC,gnomAD
rs376302927	p.Arg647Gln	missense variant	-	NC_000007.14:g.101206900C>T	ESP,ExAC,TOPMed,gnomAD
rs376302927	p.Arg647Leu	missense variant	-	NC_000007.14:g.101206900C>A	ESP,ExAC,TOPMed,gnomAD
RCV000762469	p.Arg647Trp	missense variant	-	NC_000007.14:g.101206901G>A	ClinVar
rs772004501	p.Arg647Trp	missense variant	-	NC_000007.14:g.101206901G>A	ExAC,TOPMed,gnomAD
rs779308242	p.Ala648Val	missense variant	-	NC_000007.14:g.101206897G>A	ExAC,TOPMed,gnomAD
rs886597664	p.Val649Leu	missense variant	-	NC_000007.14:g.101206895C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Asn651Lys	missense variant	-	NC_000007.14:g.101206887G>C	NCI-TCGA
rs753836252	p.Val654Phe	missense variant	-	NC_000007.14:g.101206880C>A	ExAC,gnomAD
NCI-TCGA novel	p.Val654Ala	missense variant	-	NC_000007.14:g.101206879A>G	NCI-TCGA
rs756572111	p.Arg655His	missense variant	-	NC_000007.14:g.101206876C>T	ExAC,TOPMed,gnomAD
rs777964746	p.Arg655Cys	missense variant	-	NC_000007.14:g.101206877G>A	ExAC,TOPMed,gnomAD
rs145574810	p.Tyr656His	missense variant	-	NC_000007.14:g.101206874A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr656Phe	missense variant	-	NC_000007.14:g.101206873T>A	NCI-TCGA
rs747745259	p.Arg657Gly	missense variant	-	NC_000007.14:g.101206871G>C	ExAC,TOPMed,gnomAD
rs750040825	p.Arg657Gln	missense variant	-	NC_000007.14:g.101206870C>T	ExAC,TOPMed,gnomAD
rs750040825	p.Arg657Leu	missense variant	-	NC_000007.14:g.101206870C>A	ExAC,TOPMed,gnomAD
rs747745259	p.Arg657Trp	missense variant	-	NC_000007.14:g.101206871G>A	ExAC,TOPMed,gnomAD
rs750040825	p.Arg657Pro	missense variant	-	NC_000007.14:g.101206870C>G	ExAC,TOPMed,gnomAD
rs761576023	p.Glu660Gln	missense variant	-	NC_000007.14:g.101206862C>G	ExAC,TOPMed,gnomAD
rs761576023	p.Glu660Lys	missense variant	-	NC_000007.14:g.101206862C>T	ExAC,TOPMed,gnomAD
rs367776170	p.Gln661Glu	missense variant	-	NC_000007.14:g.101206859G>C	ESP,ExAC,TOPMed,gnomAD
rs1185112432	p.Gln661Pro	missense variant	-	NC_000007.14:g.101206858T>G	TOPMed
rs1462115147	p.Pro662Ser	missense variant	-	NC_000007.14:g.101206856G>A	TOPMed
rs138165832	p.Pro662Leu	missense variant	-	NC_000007.14:g.101206855G>A	ESP,ExAC,TOPMed,gnomAD
rs138165832	p.Pro662Gln	missense variant	-	NC_000007.14:g.101206855G>T	ESP,ExAC,TOPMed,gnomAD
rs1281185643	p.Ser663Phe	missense variant	-	NC_000007.14:g.101206852G>A	gnomAD
rs771951643	p.Arg665Trp	missense variant	-	NC_000007.14:g.101206847G>A	ExAC,TOPMed,gnomAD
rs745623784	p.Arg665Gln	missense variant	-	NC_000007.14:g.101206846C>T	ExAC,gnomAD
RCV000487905	p.Arg665Trp	missense variant	-	NC_000007.14:g.101206847G>A	ClinVar
rs1337909973	p.His667Tyr	missense variant	-	NC_000007.14:g.101206841G>A	gnomAD
rs370276858	p.His668Tyr	missense variant	-	NC_000007.14:g.101206838G>A	ESP,TOPMed
rs374560741	p.His668Gln	missense variant	-	NC_000007.14:g.101206836G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370276858	p.His668Asp	missense variant	-	NC_000007.14:g.101206838G>C	ESP,TOPMed
rs771042939	p.Asp669Asn	missense variant	-	NC_000007.14:g.101206835C>T	ExAC,TOPMed,gnomAD
rs771042939	p.Asp669His	missense variant	-	NC_000007.14:g.101206835C>G	ExAC,TOPMed,gnomAD
rs749588151	p.Thr672Ser	missense variant	-	NC_000007.14:g.101206825G>C	ExAC,gnomAD
rs749588151	p.Thr672Ile	missense variant	-	NC_000007.14:g.101206825G>A	ExAC,gnomAD
rs1201360012	p.Leu675Phe	missense variant	-	NC_000007.14:g.101206817G>A	TOPMed
rs777650701	p.Asn676Tyr	missense variant	-	NC_000007.14:g.101206814T>A	ExAC,gnomAD
rs111900768	p.Asn676Lys	missense variant	-	NC_000007.14:g.101206812G>T	ESP,ExAC,TOPMed,gnomAD
rs753158711	p.Val677Ile	missense variant	-	NC_000007.14:g.101206811C>T	ExAC,TOPMed,gnomAD
rs781689698	p.Ala678Val	missense variant	-	NC_000007.14:g.101206807G>A	ExAC,gnomAD
rs773286578	p.Asn680Ser	missense variant	-	NC_000007.14:g.101206801T>C	ExAC,TOPMed,gnomAD
rs773286578	p.Asn680Ile	missense variant	-	NC_000007.14:g.101206801T>A	ExAC,TOPMed,gnomAD
rs751899386	p.His681Pro	missense variant	-	NC_000007.14:g.101206798T>G	ExAC,gnomAD
rs766827103	p.Lys682Arg	missense variant	-	NC_000007.14:g.101206795T>C	ExAC,gnomAD
rs761368327	p.Gly683Val	missense variant	-	NC_000007.14:g.101206792C>A	ExAC,TOPMed,gnomAD
rs1291518785	p.Gly683Ser	missense variant	-	NC_000007.14:g.101206793C>T	gnomAD
rs1019713896	p.Asp685Gly	missense variant	-	NC_000007.14:g.101206786T>C	gnomAD
rs1223440172	p.Tyr686His	missense variant	-	NC_000007.14:g.101206784A>G	TOPMed,gnomAD
rs1277145873	p.Tyr686Cys	missense variant	-	NC_000007.14:g.101206783T>C	gnomAD
rs769982823	p.Gly689Ala	missense variant	-	NC_000007.14:g.101206432C>G	ExAC
RCV000007023	p.Cys691Ter	frameshift	Bone fragility with contractures, arterial rupture, and deafness	NC_000007.14:g.101206427del	ClinVar
rs371621231	p.Arg692His	missense variant	-	NC_000007.14:g.101206423C>T	ESP,ExAC,TOPMed,gnomAD
rs776689472	p.Arg692Cys	missense variant	-	NC_000007.14:g.101206424G>A	ExAC,TOPMed,gnomAD
rs780640063	p.Arg695His	missense variant	-	NC_000007.14:g.101206414C>T	ExAC,TOPMed,gnomAD
rs747423129	p.Arg695Cys	missense variant	-	NC_000007.14:g.101206415G>A	ExAC,TOPMed,gnomAD
rs140519195	p.Tyr696Ter	stop gained	-	NC_000007.14:g.101206410G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs528770480	p.Asp697Gly	missense variant	-	NC_000007.14:g.101206408T>C	1000Genomes
rs199647243	p.Asp697Asn	missense variant	-	NC_000007.14:g.101206409C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1490393008	p.Asp697Glu	missense variant	-	NC_000007.14:g.101206407G>C	gnomAD
rs563693250	p.Ser702Tyr	missense variant	-	NC_000007.14:g.101206393G>T	1000Genomes
rs779199558	p.Pro703Leu	missense variant	-	NC_000007.14:g.101206390G>A	ExAC,TOPMed,gnomAD
rs988564631	p.Arg704Trp	missense variant	-	NC_000007.14:g.101206388T>A	gnomAD
rs376945666	p.Gly706Val	missense variant	-	NC_000007.14:g.101206381C>A	ESP
rs1224893368	p.Trp707Ter	stop gained	-	NC_000007.14:g.101206378C>T	gnomAD
rs752400866	p.Ala708Glu	missense variant	-	NC_000007.14:g.101206375G>T	ExAC,TOPMed,gnomAD
rs752400866	p.Ala708Val	missense variant	-	NC_000007.14:g.101206375G>A	ExAC,TOPMed,gnomAD
rs754561361	p.His711Tyr	missense variant	-	NC_000007.14:g.101206367G>A	ExAC,gnomAD
rs1305209886	p.His711Gln	missense variant	-	NC_000007.14:g.101206365G>T	gnomAD
rs376339415	p.Gly713Ser	missense variant	-	NC_000007.14:g.101206361C>T	ESP,ExAC,TOPMed,gnomAD
RCV000659080	p.Gly713Ser	missense variant	-	NC_000007.14:g.101206361C>T	ClinVar
rs777291237	p.Arg714Leu	missense variant	-	NC_000007.14:g.101206357C>A	ExAC,TOPMed,gnomAD
rs373117657	p.Arg714Cys	missense variant	-	NC_000007.14:g.101206358G>A	ESP,TOPMed,gnomAD
rs777291237	p.Arg714His	missense variant	-	NC_000007.14:g.101206357C>T	ExAC,TOPMed,gnomAD
rs1422982940	p.Leu715Phe	missense variant	-	NC_000007.14:g.101206355G>A	gnomAD
rs1428292888	p.Thr716Ile	missense variant	-	NC_000007.14:g.101206351G>A	TOPMed
NCI-TCGA novel	p.Thr716Asn	missense variant	-	NC_000007.14:g.101206351G>T	NCI-TCGA
rs765084518	p.His717Arg	missense variant	-	NC_000007.14:g.101206348T>C	ExAC,gnomAD
rs768681053	p.Glu720Lys	missense variant	-	NC_000007.14:g.101206340C>T	ExAC,gnomAD
rs768681053	p.Glu720Gln	missense variant	-	NC_000007.14:g.101206340C>G	ExAC,gnomAD
rs760776072	p.Gly721Glu	missense variant	-	NC_000007.14:g.101206336C>T	ExAC,gnomAD
rs775480770	p.Thr724Ala	missense variant	-	NC_000007.14:g.101206328T>C	ExAC,gnomAD
rs375797901	p.Thr724Met	missense variant	-	NC_000007.14:g.101206327G>A	ESP,ExAC,TOPMed,gnomAD
RCV000506767	p.Thr724Met	missense variant	-	NC_000007.14:g.101206327G>A	ClinVar
rs779351171	p.Thr725Ala	missense variant	-	NC_000007.14:g.101206325T>C	ExAC,TOPMed
rs916041374	p.Gly727Ser	missense variant	-	NC_000007.14:g.101206319C>T	TOPMed,gnomAD
rs1406525759	p.Thr728Ile	missense variant	-	NC_000007.14:g.101206315G>A	gnomAD
NCI-TCGA novel	p.Thr728Lys	missense variant	-	NC_000007.14:g.101206315G>T	NCI-TCGA
rs1361548571	p.Arg729His	missense variant	-	NC_000007.14:g.101206312C>T	gnomAD
rs771432327	p.Arg729Cys	missense variant	-	NC_000007.14:g.101206313G>A	ExAC,TOPMed,gnomAD
rs747756291	p.Ile731Val	missense variant	-	NC_000007.14:g.101206307T>C	ExAC,gnomAD
rs1432678087	p.Ser734Thr	missense variant	-	NC_000007.14:g.101206298A>T	gnomAD
rs1357311807	p.Ser734Phe	missense variant	-	NC_000007.14:g.101206297G>A	TOPMed,gnomAD
RCV000757675	p.Ser734Thr	missense variant	-	NC_000007.14:g.101206298A>T	ClinVar
rs781025282	p.Phe735Leu	missense variant	-	NC_000007.14:g.101206295A>G	ExAC,gnomAD
rs534871539	p.Asp737Asn	missense variant	-	NC_000007.14:g.101206289C>T	1000Genomes,ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0006287	Bronchopulmonary Dysplasia	disease	BEFREE
C0007766	Intracranial Aneurysm	disease	HPO
C0009081	Congenital clubfoot	disease	HPO
C0011053	Deafness	phenotype	HPO
C0011981	Diaphragmatic Eventration	disease	HPO
C0013720	Ehlers-Danlos Syndrome	disease	GENOMICS_ENGLAND
C0015934	Fetal Growth Retardation	phenotype	HPO
C0016663	Pathological fracture	phenotype	HPO
C0018772	Hearing Loss, Partial	phenotype	HPO
C0020676	Hypothyroidism	disease	RGD
C0021296	Infant, Small for Gestational Age	phenotype	HPO
C0027092	Myopia	disease	HPO
C0029453	Osteopenia	disease	HPO
C0037932	Curvature of spine	phenotype	HPO
C0079298	Epidermolysis Bullosa Simplex	disease	BEFREE
C0086543	Cataract	disease	HPO
C0152018	Esophageal carcinoma	disease	GWASDB
C0155760	Rupture of artery	phenotype	HPO
C0162872	Aortic Aneurysm, Thoracic	disease	GENOMICS_ENGLAND
C0239234	Low set ears	phenotype	HPO
C0268524	gamma-Glutamyltransferase deficiency	disease	BEFREE
C0277959	Coarse hair	phenotype	HPO
C0339789	Congenital deafness	disease	HPO
C0409338	Flexion contracture - elbow	phenotype	HPO
C0423798	Increased tendency to bruise	phenotype	HPO
C0426414	Small nose	phenotype	HPO
C0431483	Simple ear	phenotype	HPO
C0557874	Global developmental delay	disease	HPO
C0700208	Acquired scoliosis	phenotype	HPO
C0747078	Generalized osteopenia	disease	HPO
C0751003	Brain Aneurysm	disease	HPO
C0857379	Abnormality of the pinna	phenotype	HPO
C0917996	Cerebral Aneurysm	disease	HPO
C1290398	Cerebral arterial aneurysm	disease	HPO
C1384666	hearing impairment	phenotype	HPO
C1386048	Intrauterine retardation	phenotype	HPO
C1510497	Lens Opacities	phenotype	HPO
C1833142	contracture of elbow	phenotype	HPO
C1834405	Nail dysplasia	disease	HPO
C1839254	Hypoplasia of the capital femoral epiphysis	phenotype	HPO
C1840077	Anteverted nostril	phenotype	HPO
C1844704	Platyspondyly	phenotype	HPO
C1853241	Flat face	phenotype	HPO
C1854114	Short nose	phenotype	HPO
C1854718	J-shaped sella turcica	phenotype	HPO
C1857483	Decreased palmar creases	phenotype	HPO
C1858085	Malar flattening	phenotype	HPO
C1859778	Postnatal growth retardation	phenotype	HPO
C1864715	Thenar muscle atrophy	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C1865014	Long philtrum	phenotype	HPO
C1865244	Shallow orbits	phenotype	HPO
C1866195	Downturned corners of mouth	phenotype	HPO
C2676285	Bone Fragility with Contractures, Arterial Rupture, and Deafness	disease	CLINVAR;CTD_human;ORPHANET;UNIPROT
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C4020875	Mental and motor retardation	phenotype	HPO
C4072834	Rough hair texture	phenotype	HPO
C4072841	J-shaped hypophysial fossa	phenotype	HPO
C4072842	Omega shaped hypophysial fossa	phenotype	HPO
C4280651	Hypotrophic malar bone	phenotype	HPO
C4476540	Dilatation of the cerebral artery	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005506	iron ion binding	IEA
GO:0005515	protein binding	IPI
GO:0008475	procollagen-lysine 5-dioxygenase activity	IMP
GO:0008475	procollagen-lysine 5-dioxygenase activity	IBA
GO:0008475	procollagen-lysine 5-dioxygenase activity	IDA
GO:0031418	L-ascorbic acid binding	IEA
GO:0033823	procollagen glucosyltransferase activity	IMP
GO:0033823	procollagen glucosyltransferase activity	IBA
GO:0050211	procollagen galactosyltransferase activity	IMP
GO:0050211	procollagen galactosyltransferase activity	TAS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001701	in utero embryonic development	IEA
GO:0001886	endothelial cell morphogenesis	IEA
GO:0006493	protein O-linked glycosylation	IMP
GO:0008104	protein localization	IEA
GO:0017185	peptidyl-lysine hydroxylation	IMP
GO:0017185	peptidyl-lysine hydroxylation	IBA
GO:0017185	peptidyl-lysine hydroxylation	IDA
GO:0021915	neural tube development	IEA
GO:0030199	collagen fibril organization	IEA
GO:0032870	cellular response to hormone stimulus	IEA
GO:0032963	collagen metabolic process	IEA
GO:0042311	vasodilation	IEA
GO:0046947	hydroxylysine biosynthetic process	IEA
GO:0048730	epidermis morphogenesis	IEA
GO:0055114	oxidation-reduction process	IEA
GO:0060425	lung morphogenesis	IEA
GO:0070831	basement membrane assembly	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005615	extracellular space	ISS
GO:0005783	endoplasmic reticulum	IDA
GO:0005783	endoplasmic reticulum	IBA
GO:0005783	endoplasmic reticulum	TAS
GO:0005788	endoplasmic reticulum lumen	IEA
GO:0005789	endoplasmic reticulum membrane	TAS
GO:0005791	rough endoplasmic reticulum	IEA
GO:0005794	Golgi apparatus	IDA
GO:0005802	trans-Golgi network	IEA
GO:0062023	collagen-containing extracellular matrix	IEA
GO:0070062	extracellular exosome	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1474244	Extracellular matrix organization	TAS
R-HSA-1474290	Collagen formation	TAS
R-HSA-1650814	Collagen biosynthesis and modifying enzymes	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C025205	1,10-phenanthroline	1,10-phenanthroline results in increased expression of PLOD3 mRNA	19502547
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of PLOD3 mRNA	19114083
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of PLOD3 mRNA	21346803
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of PLOD3 mRNA	18648102
D000082	Acetaminophen	Acetaminophen results in decreased expression of PLOD3 mRNA	21420995
D000082	Acetaminophen	PLOD3 gene polymorphism affects the susceptibility to Acetaminophen	26104854
D000082	Acetaminophen	Acetaminophen affects the expression of PLOD3 mRNA	17562736
D000082	Acetaminophen	[Clofibrate co-treated with Acetaminophen] affects the expression of PLOD3 mRNA	17585979
D000082	Acetaminophen	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of PLOD3 mRNA]	17585979
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of PLOD3 mRNA	16483693
D001151	Arsenic	Arsenic affects the methylation of PLOD3 gene	25304211
C547126	AZM551248	AZM551248 results in increased expression of PLOD3 mRNA	22323515
D001564	Benzo(a)pyrene	Benzo(a)pyrene promotes the reaction [AHR protein binds to PLOD3 promoter]	19654925
C072553	benzyloxycarbonylleucyl-leucyl-leucine aldehyde	benzyloxycarbonylleucyl-leucyl-leucine aldehyde results in decreased expression of PLOD3 protein	21692457
C006780	bisphenol A	bisphenol A affects the expression of PLOD3 mRNA	21786754
C006780	bisphenol A	bisphenol A affects the expression of PLOD3 mRNA	30903817
C006780	bisphenol A	bisphenol A results in decreased methylation of PLOD3 promoter	27312807
C006780	bisphenol A	bisphenol A results in decreased expression of PLOD3 mRNA	30816183
C006780	bisphenol A	bisphenol A results in increased expression of PLOD3 mRNA	25181051
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of PLOD3 mRNA	26472689
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of PLOD3 mRNA	21297351
D007631	Chlordecone	Chlordecone results in decreased expression of PLOD3 mRNA	29458080
D002726	Chlorogenic Acid	Chlorogenic Acid results in increased expression of PLOD3 mRNA	20706672
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PLOD3 gene	20938992
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency] results in increased expression of PLOD3 mRNA	22915297
D002794	Choline	Quercetin inhibits the reaction [[Methionine deficiency co-treated with Choline deficiency] results in increased expression of PLOD3 mRNA]	22915297
D002990	Clobetasol	Clobetasol results in increased expression of PLOD3 mRNA	27462272
D002994	Clofibrate	[Clofibrate co-treated with Acetaminophen] affects the expression of PLOD3 mRNA	17585979
D002994	Clofibrate	Clofibrate results in decreased expression of PLOD3 mRNA	17585979
D002994	Clofibrate	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of PLOD3 mRNA]	17585979
D060729	Coal Ash	Coal Ash results in increased expression of PLOD3 mRNA	19000753
D003471	Cuprizone	Cuprizone results in increased expression of PLOD3 mRNA	26577399
D003520	Cyclophosphamide	[Doxorubicin co-treated with Cyclophosphamide] affects the expression of PLOD3 mRNA	16322899
D016572	Cyclosporine	Cyclosporine results in decreased methylation of PLOD3 promoter	27989131
D016572	Cyclosporine	Cyclosporine results in increased expression of PLOD3 mRNA	20106945; 25562108;
C000944	dicrotophos	dicrotophos results in increased expression of PLOD3 mRNA	28302478
D004041	Dietary Fats	Dietary Fats results in decreased expression of PLOD3 mRNA	18042831
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of PLOD3 protein	31163220
D004052	Diethylnitrosamine	[Piperonyl Butoxide co-treated with Diethylnitrosamine] affects the methylation of PLOD3 gene	23968726
D004229	Dithiothreitol	Dithiothreitol results in increased expression of PLOD3 protein	21692457
D004317	Doxorubicin	[Doxorubicin co-treated with Cyclophosphamide] affects the expression of PLOD3 mRNA	16322899
D004317	Doxorubicin	Doxorubicin results in decreased expression of PLOD3 mRNA	29803840
C045651	epigallocatechin gallate	epigallocatechin gallate results in increased expression of PLOD3 mRNA	20706672
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in increased expression of PLOD3 mRNA	22079256
D000431	Ethanol	Ethanol results in increased expression of PLOD3 mRNA	29361514
D000431	Ethanol	Ethanol affects the expression of PLOD3 mRNA	30319688
D000431	Ethanol	Ethanol results in increased expression of PLOD3 mRNA	30319688
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PLOD3 mRNA	17942748
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of PLOD3 mRNA	23129252
C052034	fenoxycarb	fenoxycarb results in increased expression of PLOD3 mRNA	24038158
D017313	Fenretinide	Fenretinide results in decreased expression of PLOD3 mRNA	28973697
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PLOD3 gene	20938992
D019833	Genistein	Genistein results in increased expression of PLOD3 mRNA	29458080
D019833	Genistein	Genistein results in increased expression of PLOD3 mRNA	20706672
D005947	Glucose	[INS protein co-treated with Glucose] results in increased expression of PLOD3 mRNA	22634610
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of PLOD3 mRNA	23086925
D007608	Kainic Acid	Kainic Acid results in decreased expression of PLOD3 mRNA	17997037
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PLOD3 gene	20938992
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency] results in increased expression of PLOD3 mRNA	22915297
D008715	Methionine	Quercetin inhibits the reaction [[Methionine deficiency co-treated with Choline deficiency] results in increased expression of PLOD3 mRNA]	22915297
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of PLOD3 mRNA	23103053
D008767	Methylmercury Compounds	Methylmercury Compounds results in decreased expression of PLOD3 mRNA	27544571
D008825	Miconazole	Miconazole results in increased expression of PLOD3 mRNA	27462272
C517284	monomethyl phthalate	monomethyl phthalate affects the expression of PLOD3 mRNA	26924002
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of PLOD3 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of PLOD3 mRNA	25554681
D009538	Nicotine	Nicotine results in decreased expression of PLOD3 mRNA	17997037
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of PLOD3 mRNA	20188158
C485800	osajin	osajin results in increased expression of PLOD3 mRNA	20706672
D000073878	Palm Oil	Palm Oil results in decreased expression of PLOD3 mRNA	18042831
D010578	Petroleum	Petroleum affects the expression of PLOD3 mRNA	25208076
D010882	Piperonyl Butoxide	[Piperonyl Butoxide co-treated with Diethylnitrosamine] affects the methylation of PLOD3 gene	23968726
C474837	pomiferin	pomiferin results in increased expression of PLOD3 mRNA	20706672
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in increased expression of PLOD3 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in increased expression of PLOD3 mRNA	22079256
D011429	Propolis	Propolis results in increased expression of PLOD3 mRNA	20706672
C006068	propylparaben	propylparaben results in decreased expression of PLOD3 mRNA	29458080
C033607	puerarin	puerarin results in increased expression of PLOD3 mRNA	20706672
D011794	Quercetin	Quercetin inhibits the reaction [[Methionine deficiency co-treated with Choline deficiency] results in increased expression of PLOD3 mRNA]	22915297
D000077185	Resveratrol	Resveratrol results in increased expression of PLOD3 mRNA	20706672
C529148	rosavin	rosavin results in increased expression of PLOD3 mRNA	20706672
D019821	Simvastatin	Simvastatin results in decreased expression of PLOD3 mRNA	16414398
D012999	Soman	Soman results in increased expression of PLOD3 mRNA	19281266
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PLOD3 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PLOD3 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to PLOD3 promoter]	19654925
D019284	Thapsigargin	Thapsigargin results in decreased expression of PLOD3 protein	21692457
D013893	Thiram	Thiram results in decreased expression of PLOD3 mRNA	20530235
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of PLOD3 protein	30291989
C012589	trichostatin A	trichostatin A results in increased expression of PLOD3 mRNA	24935251
D014635	Valproic Acid	Valproic Acid results in increased methylation of PLOD3 gene	29154799
D014874	Water Pollutants, Chemical	Water Pollutants, Chemical affects the expression of PLOD3 mRNA	25208076

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0223	Dioxygenase
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0256	Endoplasmic reticulum
KW-0325	Glycoprotein
KW-0328	Glycosyltransferase
KW-0408	Iron
KW-0464	Manganese
KW-0472	Membrane
KW-0479	Metal-binding
KW-0511	Multifunctional enzyme
KW-0560	Oxidoreductase
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0964	Secreted
KW-0732	Signal
KW-0808	Transferase
KW-0847	Vitamin C

Interpro

InterPro ID	InterPro Term
IPR029044	Nucleotide-diphossugar_trans
IPR005123	Oxoglu/Fe-dep_dioxygenase
IPR006620	Pro_4_hyd_alph
IPR001006	Procol_lys_dOase

PROSITE

PROSITE ID	PROSITE Term
PS51471	FE2OG_OXY
PS01325	LYS_HYDROXYLASE

Pfam

Pfam ID	Pfam Term
PF03171	2OG-FeII_Oxy

Gene: PLOD3

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction