CleftGeneDB-Search

Gene: F13A1

Basic information

Tag	Content
Uniprot ID	P00488; Q59HA7; Q8N6X2; Q96P24; Q9BX29;
Entrez ID	2162
Genbank protein ID	AAA52489.1; AAL12161.1; BAD92089.1; AAA52488.1; AAH27963.1; AAA52415.1;
Genbank nucleotide ID	NM_000129.3
Ensembl protein ID	ENSP00000264870
Ensembl nucleotide ID	ENSG00000124491
Gene name	Coagulation factor XIII A chain
Gene symbol	F13A1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CPO,CL/P
Developmental stage
Data sources	Manually collected
Reference	2888553
Functional description	Factor XIII is activated by thrombin and calcium ion to a transglutaminase that catalyzes the formation of gamma-glutamyl-epsilon-lysine cross-links between fibrin chains, thus stabilizing the fibrin clot. Also cross-link alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin.
Sequence	MSETSRTAFG GRRAVPPNNS NAAEDDLPTV ELQGVVPRGV NLQEFLNVTS VHLFKERWDT 60 NKVDHHTDKY ENNKLIVRRG QSFYVQIDFS RPYDPRRDLF RVEYVIGRYP QENKGTYIPV 120 PIVSELQSGK WGAKIVMRED RSVRLSIQSS PKCIVGKFRM YVAVWTPYGV LRTSRNPETD 180 TYILFNPWCE DDAVYLDNEK EREEYVLNDI GVIFYGEVND IKTRSWSYGQ FEDGILDTCL 240 YVMDRAQMDL SGRGNPIKVS RVGSAMVNAK DDEGVLVGSW DNIYAYGVPP SAWTGSVDIL 300 LEYRSSENPV RYGQCWVFAG VFNTFLRCLG IPARIVTNYF SAHDNDANLQ MDIFLEEDGN 360 VNSKLTKDSV WNYHCWNEAW MTRPDLPVGF GGWQAVDSTP QENSDGMYRC GPASVQAIKH 420 GHVCFQFDAP FVFAEVNSDL IYITAKKDGT HVVENVDATH IGKLIVTKQI GGDGMMDITD 480 TYKFQEGQEE ERLALETALM YGAKKPLNTE GVMKSRSNVD MDFEVENAVL GKDFKLSITF 540 RNNSHNRYTI TAYLSANITF YTGVPKAEFK KETFDVTLEP LSFKKEAVLI QAGEYMGQLL 600 EQASLHFFVT ARINETRDVL AKQKSTVLTI PEIIIKVRGT QVVGSDMTVT VQFTNPLKET 660 LRNVWVHLDG PGVTRPMKKM FREIRPNSTV QWEEVCRPWV SGHRKLIASM SSDSLRHVYG 720 ELDVQIQRRP SM 732

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
1EVU
1EX0
1F13
1FIE
1GGT
1GGU
1GGY
1QRK
4KTY
5MHL
5MHM
5MHN
5MHO
1EVU
1EX0
1FIE
1GGU
1GGY
4KTY

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	F13A1		F1PKX3		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	F13A1	102169238	A0A452FF40		Capra hircus	Prediction	More>>
1:1 ortholog	F13A1	2162	P00488	CPO,CL/P	Homo sapiens	Publication	More>>
1:1 ortholog	F13a1	74145	Q8BH61		Mus musculus	Prediction	More>>
1:1 ortholog	F13A1	462413	H2QS92		Pan troglodytes	Prediction	More>>
1:1 ortholog	F13A1	100153504	K7GQL2		Sus scrofa	Prediction	More>>
1:1 ortholog	F13a1	60327	G3V811		Rattus norvegicus	Prediction	More>>
1:1 ortholog	f13a1b		F1R1R7		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs557825091	p.Ser2Pro	missense variant	-	NC_000006.12:g.6318661A>G	1000Genomes,ExAC,gnomAD
rs557825091	p.Ser2Ala	missense variant	-	NC_000006.12:g.6318661A>C	1000Genomes,ExAC,gnomAD
rs757892043	p.Ser2Leu	missense variant	-	NC_000006.12:g.6318660G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg6Met	missense variant	-	NC_000006.12:g.6318648C>A	NCI-TCGA
COSM1080910	p.Arg6Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6318648C>T	NCI-TCGA Cosmic
rs749947217	p.Thr7Ile	missense variant	-	NC_000006.12:g.6318645G>A	NCI-TCGA,NCI-TCGA Cosmic
rs749947217	p.Thr7Ile	missense variant	-	NC_000006.12:g.6318645G>A	ExAC,TOPMed,gnomAD
rs931241469	p.Ala8Val	missense variant	-	NC_000006.12:g.6318642G>A	TOPMed
rs138865075	p.Ala8Thr	missense variant	-	NC_000006.12:g.6318643C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138865075	p.Ala8Thr	missense variant	-	NC_000006.12:g.6318643C>T	NCI-TCGA
rs919588838	p.Phe9Ser	missense variant	-	NC_000006.12:g.6318639A>G	TOPMed,gnomAD
COSM6107263	p.Gly10Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6318636C>T	NCI-TCGA Cosmic
rs1460578991	p.Gly11Asp	missense variant	-	NC_000006.12:g.6318633C>T	TOPMed
rs763927187	p.Arg12Gly	missense variant	-	NC_000006.12:g.6318631T>C	ExAC,TOPMed,gnomAD
rs760607637	p.Ala14Val	missense variant	-	NC_000006.12:g.6318624G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala14Thr	missense variant	-	NC_000006.12:g.6318625C>T	NCI-TCGA
rs367893759	p.Val15Ile	missense variant	-	NC_000006.12:g.6318622C>T	ESP,ExAC,gnomAD
rs367893759	p.Val15Phe	missense variant	-	NC_000006.12:g.6318622C>A	ESP,ExAC,gnomAD
COSM3629151	p.Pro16Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6318619G>A	NCI-TCGA Cosmic
rs1423535868	p.Asn18Ser	missense variant	-	NC_000006.12:g.6318612T>C	TOPMed,gnomAD
rs774246884	p.Ser20Cys	missense variant	-	NC_000006.12:g.6318606G>C	ExAC,TOPMed,gnomAD
rs763103004	p.Ala23Val	missense variant	-	NC_000006.12:g.6318597G>A	ExAC,TOPMed,gnomAD
rs763103004	p.Ala23Val	missense variant	-	NC_000006.12:g.6318597G>A	NCI-TCGA,NCI-TCGA Cosmic
rs763103004	p.Ala23Glu	missense variant	-	NC_000006.12:g.6318597G>T	ExAC,TOPMed,gnomAD
rs1359737567	p.Asp25Gly	missense variant	-	NC_000006.12:g.6318591T>C	TOPMed
COSM5760258	p.Asp26Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6318588T>C	NCI-TCGA Cosmic
rs781705895	p.Leu27Pro	missense variant	-	NC_000006.12:g.6318585A>G	ExAC,TOPMed,gnomAD
rs1290002388	p.Pro28Leu	missense variant	-	NC_000006.12:g.6318582G>A	TOPMed
rs1290002388	p.Pro28Leu	missense variant	-	NC_000006.12:g.6318582G>A	NCI-TCGA
rs1447842650	p.Val30Met	missense variant	-	NC_000006.12:g.6318577C>T	gnomAD
COSM743379	p.Glu31Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.6318574C>A	NCI-TCGA Cosmic
rs1407961299	p.Leu32Phe	missense variant	-	NC_000006.12:g.6318571G>A	TOPMed,gnomAD
rs747587256	p.Gln33Lys	missense variant	-	NC_000006.12:g.6318568G>T	ExAC,gnomAD
rs1426746412	p.Gln33His	missense variant	-	NC_000006.12:g.6318566C>G	TOPMed
rs778222128	p.Gly34Val	missense variant	-	NC_000006.12:g.6318564C>A	ExAC,TOPMed
rs5985	p.Val35Met	missense variant	-	NC_000006.12:g.6318562C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs5985	p.Val35Leu	missense variant	-	NC_000006.12:g.6318562C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs540456397	p.Val35Ala	missense variant	-	NC_000006.12:g.6318561A>G	1000Genomes,ExAC,gnomAD
rs752589234	p.Val36Gly	missense variant	-	NC_000006.12:g.6318558A>C	ExAC
rs1457742972	p.Pro37Ser	missense variant	-	NC_000006.12:g.6318556G>A	gnomAD
rs1328344901	p.Arg38Trp	missense variant	-	NC_000006.12:g.6318553G>A	TOPMed,gnomAD
rs759324596	p.Arg38Gln	missense variant	-	NC_000006.12:g.6318552C>T	ExAC,TOPMed,gnomAD
rs1471936838	p.Gly39Ser	missense variant	-	NC_000006.12:g.6318550C>T	gnomAD
rs3024472	p.Val40Ile	missense variant	-	NC_000006.12:g.6318547C>T	ESP,ExAC,TOPMed,gnomAD
rs770047613	p.Asn41Ser	missense variant	-	NC_000006.12:g.6318543T>C	ExAC,gnomAD
rs1265557322	p.Leu42Met	missense variant	-	NC_000006.12:g.6318541G>T	TOPMed,gnomAD
rs762041584	p.Leu42Pro	missense variant	-	NC_000006.12:g.6318540A>G	ExAC,gnomAD
rs776816717	p.Gln43Ter	stop gained	-	NC_000006.12:g.6318538G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln43His	missense variant	-	NC_000006.12:g.6318536T>G	NCI-TCGA
rs148065753	p.Glu44Asp	missense variant	-	NC_000006.12:g.6305538C>G	ESP,ExAC,TOPMed,gnomAD
rs148065753	p.Glu44Asp	missense variant	-	NC_000006.12:g.6305538C>A	ESP,ExAC,TOPMed,gnomAD
rs1388475195	p.Glu44Gly	missense variant	-	NC_000006.12:g.6305539T>C	gnomAD
rs1172080141	p.Phe45Leu	missense variant	-	NC_000006.12:g.6305537A>G	gnomAD
NCI-TCGA novel	p.Leu46Ile	missense variant	-	NC_000006.12:g.6305534G>T	NCI-TCGA
rs780962981	p.Asn47His	missense variant	-	NC_000006.12:g.6305531T>G	ExAC,gnomAD
rs780962981	p.Asn47Tyr	missense variant	-	NC_000006.12:g.6305531T>A	ExAC,gnomAD
rs754697772	p.Val48Ile	missense variant	-	NC_000006.12:g.6305528C>T	ExAC,TOPMed,gnomAD
rs143616920	p.Thr49Met	missense variant	-	NC_000006.12:g.6305524G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1377346666	p.Ser50Asn	missense variant	-	NC_000006.12:g.6305521C>T	TOPMed
rs750361933	p.Val51Ile	missense variant	-	NC_000006.12:g.6305519C>T	ExAC,TOPMed,gnomAD
rs138690353	p.Phe54Ile	missense variant	-	NC_000006.12:g.6305510A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138690353	p.Phe54Leu	missense variant	-	NC_000006.12:g.6305510A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1219765079	p.Arg57Lys	missense variant	-	NC_000006.12:g.6305500C>T	TOPMed
rs754004931	p.Trp58Arg	missense variant	-	NC_000006.12:g.6305498A>T	ExAC,gnomAD
COSM6174792	p.Trp58Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6305497C>A	NCI-TCGA Cosmic
rs914446893	p.Asp59Asn	missense variant	-	NC_000006.12:g.6305495C>T	TOPMed,gnomAD
rs121913067	p.Asn61Lys	missense variant	-	NC_000006.12:g.6305487G>T	-
COSM743380	p.Lys62Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6305484C>A	NCI-TCGA Cosmic
rs764420101	p.Val63Ala	missense variant	-	NC_000006.12:g.6305482A>G	ExAC,gnomAD
COSM743382	p.Val63Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6305483C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp64Asn	missense variant	-	NC_000006.12:g.6305480C>T	NCI-TCGA
COSM6107265	p.Thr67Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6305470G>T	NCI-TCGA Cosmic
COSM3160109	p.Asp68Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6305468C>T	NCI-TCGA Cosmic
rs267601095	p.Glu71Lys	missense variant	-	NC_000006.12:g.6305459C>T	-
rs1285216737	p.Asn72Lys	missense variant	-	NC_000006.12:g.6305454G>T	gnomAD
rs1244093247	p.Leu75Arg	missense variant	-	NC_000006.12:g.6305446A>C	gnomAD
rs1200131413	p.Leu75Val	missense variant	-	NC_000006.12:g.6305447G>C	TOPMed
rs775876960	p.Ile76Thr	missense variant	-	NC_000006.12:g.6305443A>G	ExAC,TOPMed,gnomAD
rs768024997	p.Arg78His	missense variant	-	NC_000006.12:g.6305437C>T	ExAC,TOPMed,gnomAD
rs760818476	p.Arg78Cys	missense variant	-	NC_000006.12:g.6305438G>A	TOPMed,gnomAD
COSM6107266	p.Arg78Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6305437C>A	NCI-TCGA Cosmic
rs267601094	p.Arg79Lys	missense variant	-	NC_000006.12:g.6305434C>T	-
rs1166766083	p.Gly80Arg	missense variant	-	NC_000006.12:g.6305432C>T	gnomAD
NCI-TCGA novel	p.Phe83Leu	missense variant	-	NC_000006.12:g.6305421G>T	NCI-TCGA
rs1414788255	p.Val85Gly	missense variant	-	NC_000006.12:g.6305416A>C	gnomAD
rs1183395316	p.Gln86Glu	missense variant	-	NC_000006.12:g.6305414G>C	gnomAD
NCI-TCGA novel	p.Gln86His	missense variant	-	NC_000006.12:g.6305412C>G	NCI-TCGA
rs956116816	p.Ser90Gly	missense variant	-	NC_000006.12:g.6305402T>C	TOPMed,gnomAD
rs775055566	p.Arg91Cys	missense variant	-	NC_000006.12:g.6305399G>A	ExAC,TOPMed,gnomAD
rs769424362	p.Arg91His	missense variant	-	NC_000006.12:g.6305398C>T	ExAC,TOPMed,gnomAD
rs1203791516	p.Asp94Tyr	missense variant	-	NC_000006.12:g.6305390C>A	TOPMed,gnomAD
rs768303192	p.Asp94Glu	missense variant	-	NC_000006.12:g.6305388G>T	ExAC,TOPMed,gnomAD
rs746668502	p.Pro95Leu	missense variant	-	NC_000006.12:g.6305386G>A	ExAC,gnomAD
rs1399897211	p.Asp98Tyr	missense variant	-	NC_000006.12:g.6305378C>A	TOPMed
COSM3629146	p.Leu99Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6305375G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr104His	missense variant	-	NC_000006.12:g.6305360A>G	NCI-TCGA
NCI-TCGA novel	p.Tyr104Ter	stop gained	-	NC_000006.12:g.6305358G>T	NCI-TCGA
rs1326555460	p.Val105Ala	missense variant	-	NC_000006.12:g.6305356A>G	TOPMed
rs868565007	p.Val105Ile	missense variant	-	NC_000006.12:g.6305357C>T	gnomAD
rs1306326542	p.Ile106Thr	missense variant	-	NC_000006.12:g.6305353A>G	gnomAD
rs751922706	p.Arg108Cys	missense variant	-	NC_000006.12:g.6266807G>A	ExAC,TOPMed,gnomAD
rs145761347	p.Arg108Leu	missense variant	-	NC_000006.12:g.6266806C>A	ESP,ExAC,TOPMed,gnomAD
rs145761347	p.Arg108His	missense variant	-	NC_000006.12:g.6266806C>T	ESP,ExAC,TOPMed,gnomAD
rs1173364213	p.Pro110Thr	missense variant	-	NC_000006.12:g.6266801G>T	gnomAD
rs750903866	p.Asn113Lys	missense variant	-	NC_000006.12:g.6266790G>C	ExAC,gnomAD
rs1472604597	p.Lys114Arg	missense variant	-	NC_000006.12:g.6266788T>C	TOPMed
rs1447248884	p.Gly115Glu	missense variant	-	NC_000006.12:g.6266785C>T	gnomAD
rs763649812	p.Gly115Arg	missense variant	-	NC_000006.12:g.6266786C>T	ExAC,gnomAD
rs771763854	p.Thr116Ile	missense variant	-	NC_000006.12:g.6266782G>A	ExAC,TOPMed,gnomAD
rs771763854	p.Thr116Asn	missense variant	-	NC_000006.12:g.6266782G>T	ExAC,TOPMed,gnomAD
rs759210544	p.Ile118Thr	missense variant	-	NC_000006.12:g.6266776A>G	ExAC,gnomAD
rs774094090	p.Val120Met	missense variant	-	NC_000006.12:g.6266771C>T	ExAC,gnomAD
rs1185244838	p.Val120Ala	missense variant	-	NC_000006.12:g.6266770A>G	gnomAD
rs774094090	p.Val120Leu	missense variant	-	NC_000006.12:g.6266771C>G	ExAC,gnomAD
rs142064728	p.Ile122Val	missense variant	-	NC_000006.12:g.6266765T>C	ESP,ExAC,gnomAD
rs777638115	p.Ile122Thr	missense variant	-	NC_000006.12:g.6266764A>G	ExAC,gnomAD
rs147577601	p.Glu125Asp	missense variant	-	NC_000006.12:g.6266754C>G	ESP,ExAC,gnomAD
rs748285860	p.Leu126Phe	missense variant	-	NC_000006.12:g.6266751T>G	ExAC,gnomAD
rs1050673198	p.Gln127Arg	missense variant	-	NC_000006.12:g.6266749T>C	gnomAD
rs150249786	p.Gln127Ter	stop gained	-	NC_000006.12:g.6266750G>A	ESP,ExAC
rs755208423	p.Gly129Arg	missense variant	-	NC_000006.12:g.6266744C>T	ExAC,TOPMed,gnomAD
rs1300973507	p.Gly129Ala	missense variant	-	NC_000006.12:g.6266743C>G	gnomAD
COSM6174797	p.Gly129Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.6266744C>A	NCI-TCGA Cosmic
rs1320974899	p.Lys130Thr	missense variant	-	NC_000006.12:g.6266740T>G	TOPMed
rs780404652	p.Lys130Asn	missense variant	-	NC_000006.12:g.6266739C>A	ExAC,gnomAD
NCI-TCGA novel	p.Trp131Ter	stop gained	-	NC_000006.12:g.6266736C>T	NCI-TCGA
rs932213198	p.Trp131Ter	stop gained	-	NC_000006.12:g.6266737C>T	TOPMed,gnomAD
rs932213198	p.Trp131Ser	missense variant	-	NC_000006.12:g.6266737C>G	TOPMed,gnomAD
rs1236867771	p.Ala133Val	missense variant	-	NC_000006.12:g.6266731G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala133ProPheSerTerUnk	frameshift	-	NC_000006.12:g.6266732C>-	NCI-TCGA
rs141030077	p.Ala133Ser	missense variant	-	NC_000006.12:g.6266732C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1243622825	p.Ile135Val	missense variant	-	NC_000006.12:g.6266726T>C	TOPMed
rs1282004652	p.Val136Phe	missense variant	-	NC_000006.12:g.6266723C>A	TOPMed
rs202087752	p.Arg138Lys	missense variant	-	NC_000006.12:g.6266716C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs202087752	p.Arg138Ile	missense variant	-	NC_000006.12:g.6266716C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs202087752	p.Arg138Thr	missense variant	-	NC_000006.12:g.6266716C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1424720526	p.Arg138Gly	missense variant	-	NC_000006.12:g.6266717T>C	gnomAD
rs1439029722	p.Glu139Gln	missense variant	-	NC_000006.12:g.6266714C>G	gnomAD
rs1485613814	p.Asp140Gly	missense variant	-	NC_000006.12:g.6266710T>C	gnomAD
NCI-TCGA novel	p.Arg141Met	missense variant	-	NC_000006.12:g.6266707C>A	NCI-TCGA
rs767046666	p.Arg144Trp	missense variant	-	NC_000006.12:g.6266699G>A	ExAC,TOPMed,gnomAD
rs142954620	p.Arg144Gln	missense variant	-	NC_000006.12:g.6266698C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser146Pro	missense variant	-	NC_000006.12:g.6266693A>G	NCI-TCGA
COSM3160076	p.Ser150Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6266680G>A	NCI-TCGA Cosmic
rs762694348	p.Cys153Ser	missense variant	-	NC_000006.12:g.6266672A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys153Ser	missense variant	-	NC_000006.12:g.6266671C>G	NCI-TCGA
rs542893144	p.Ile154Thr	missense variant	-	NC_000006.12:g.6266668A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1470617346	p.Gly156Arg	missense variant	-	NC_000006.12:g.6266663C>T	TOPMed
NCI-TCGA novel	p.Lys157GluPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.6266660_6266661insC	NCI-TCGA
rs748126574	p.Lys157Arg	missense variant	-	NC_000006.12:g.6266659T>C	ExAC,TOPMed,gnomAD
rs747218826	p.Arg159Leu	missense variant	-	NC_000006.12:g.6266653C>A	ExAC,TOPMed,gnomAD
rs776782223	p.Arg159Cys	missense variant	-	NC_000006.12:g.6266654G>A	ExAC,TOPMed,gnomAD
rs747218826	p.Arg159His	missense variant	-	NC_000006.12:g.6266653C>T	ExAC,TOPMed,gnomAD
rs1369592641	p.Met160Thr	missense variant	-	NC_000006.12:g.6266650A>G	TOPMed,gnomAD
COSM743384	p.Tyr161Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6266648A>T	NCI-TCGA Cosmic
rs758761831	p.Val164Leu	missense variant	-	NC_000006.12:g.6266639C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val164Ile	missense variant	-	NC_000006.12:g.6266639C>T	NCI-TCGA
rs1331616917	p.Trp165Arg	missense variant	-	NC_000006.12:g.6266636A>G	TOPMed
rs746272012	p.Pro167Leu	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6266629G>A	UniProt,dbSNP
VAR_074280	p.Pro167Leu	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6266629G>A	UniProt
rs746272012	p.Pro167Leu	missense variant	-	NC_000006.12:g.6266629G>A	ExAC,gnomAD
rs779361778	p.Tyr168Cys	missense variant	-	NC_000006.12:g.6266626T>C	ExAC,TOPMed,gnomAD
rs779361778	p.Tyr168Ser	missense variant	-	NC_000006.12:g.6266626T>G	ExAC,TOPMed,gnomAD
rs779361778	p.Tyr168Phe	missense variant	-	NC_000006.12:g.6266626T>A	ExAC,TOPMed,gnomAD
rs1482093853	p.Gly169Ser	missense variant	-	NC_000006.12:g.6266624C>T	TOPMed,gnomAD
COSM3160072	p.Gly169Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6266623C>T	NCI-TCGA Cosmic
rs140712764	p.Val170Ile	missense variant	-	NC_000006.12:g.6266621C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376147795	p.Arg172Gln	missense variant	-	NC_000006.12:g.6266614C>T	ESP,ExAC,TOPMed,gnomAD
rs121913065	p.Arg172Ter	stop gained	-	NC_000006.12:g.6266615G>A	ExAC,gnomAD
rs142994919	p.Thr173Ala	missense variant	-	NC_000006.12:g.6266612T>C	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Thr173Asn	missense variant	-	NC_000006.12:g.6266611G>T	NCI-TCGA
NCI-TCGA novel	p.Thr173AsnPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.6266613_6266614insC	NCI-TCGA
rs1306300718	p.Thr173Ile	missense variant	-	NC_000006.12:g.6266611G>A	TOPMed,gnomAD
rs1290093487	p.Ser174Ile	missense variant	-	NC_000006.12:g.6266608C>A	gnomAD
rs765995544	p.Arg175Ter	stop gained	-	NC_000006.12:g.6266606G>A	ExAC,TOPMed,gnomAD
rs538605561	p.Arg175Gln	missense variant	-	NC_000006.12:g.6266605C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs772842511	p.Asn176Ser	missense variant	-	NC_000006.12:g.6266602T>C	ExAC,gnomAD
rs139753440	p.Pro177Gln	missense variant	-	NC_000006.12:g.6266599G>T	ESP,ExAC,TOPMed,gnomAD
rs139753440	p.Pro177Leu	missense variant	-	NC_000006.12:g.6266599G>A	ESP,ExAC,TOPMed,gnomAD
rs765124973	p.Pro177Ser	missense variant	-	NC_000006.12:g.6266600G>A	ExAC,gnomAD
rs768849968	p.Thr181Met	missense variant	-	NC_000006.12:g.6266587G>A	ExAC,TOPMed,gnomAD
rs1465452934	p.Ile183Val	missense variant	-	NC_000006.12:g.6266582T>C	TOPMed
rs1170344639	p.Ile183Met	missense variant	-	NC_000006.12:g.6266580A>C	TOPMed
COSM3629131	p.Leu184Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6266579G>A	NCI-TCGA Cosmic
rs1397950225	p.Asn186Lys	missense variant	-	NC_000006.12:g.6266571A>T	TOPMed
COSM3629130	p.Pro187Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6266570G>A	NCI-TCGA Cosmic
COSM6174800	p.Trp188Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6266565C>A	NCI-TCGA Cosmic
rs772140446	p.Glu190Lys	missense variant	-	NC_000006.12:g.6266561C>T	ExAC,TOPMed,gnomAD
rs746136297	p.Glu190Asp	missense variant	-	NC_000006.12:g.6266559T>A	ExAC,gnomAD
rs1157045865	p.Ala193Thr	missense variant	-	NC_000006.12:g.6250924C>T	TOPMed
rs779369218	p.Val194Met	missense variant	-	NC_000006.12:g.6250921C>T	ExAC,gnomAD
rs750037139	p.Tyr195Cys	missense variant	-	NC_000006.12:g.6250917T>C	ExAC,TOPMed,gnomAD
rs750037139	p.Tyr195Phe	missense variant	-	NC_000006.12:g.6250917T>A	ExAC,TOPMed,gnomAD
rs757980183	p.Tyr195His	missense variant	-	NC_000006.12:g.6250918A>G	ExAC,gnomAD
rs778745917	p.Leu196Met	missense variant	-	NC_000006.12:g.6250915G>T	ExAC,gnomAD
COSM1080885	p.Asp197Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6250912C>T	NCI-TCGA Cosmic
rs983461176	p.Asn198Asp	missense variant	-	NC_000006.12:g.6250909T>C	TOPMed,gnomAD
rs983461176	p.Asn198His	missense variant	-	NC_000006.12:g.6250909T>G	TOPMed,gnomAD
rs541763681	p.Glu201Asp	missense variant	-	NC_000006.12:g.6250898T>A	1000Genomes,ExAC
rs146801542	p.Arg202Lys	missense variant	-	NC_000006.12:g.6250896C>T	ESP,ExAC,TOPMed,gnomAD
rs764016912	p.Glu204Lys	missense variant	-	NC_000006.12:g.6250891C>T	ExAC,TOPMed,gnomAD
rs1392183948	p.Glu204Asp	missense variant	-	NC_000006.12:g.6250889C>G	TOPMed,gnomAD
rs760467093	p.Glu204Gly	missense variant	-	NC_000006.12:g.6250890T>C	ExAC,gnomAD
rs3024477	p.Tyr205Phe	missense variant	-	NC_000006.12:g.6250887T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767481854	p.Val206Ile	missense variant	-	NC_000006.12:g.6250885C>T	ExAC,gnomAD
rs759730315	p.Val206Ala	missense variant	-	NC_000006.12:g.6250884A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly211Trp	missense variant	-	NC_000006.12:g.6250870C>A	NCI-TCGA
rs1205172031	p.Gly211Arg	missense variant	-	NC_000006.12:g.6250870C>T	TOPMed,gnomAD
rs771091417	p.Ile213Phe	missense variant	-	NC_000006.12:g.6250864T>A	ExAC,TOPMed,gnomAD
rs771091417	p.Ile213Val	missense variant	-	NC_000006.12:g.6250864T>C	ExAC,TOPMed,gnomAD
rs373039706	p.Tyr215Phe	missense variant	-	NC_000006.12:g.6250857T>A	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Gly216Val	missense variant	-	NC_000006.12:g.6250854C>A	NCI-TCGA
NCI-TCGA novel	p.Glu217Ter	stop gained	-	NC_000006.12:g.6250852C>A	NCI-TCGA
rs773499545	p.Glu217Gln	missense variant	-	NC_000006.12:g.6250852C>G	ExAC,gnomAD
rs1179323389	p.Asn219Ser	missense variant	-	NC_000006.12:g.6250845T>C	TOPMed
rs1339185125	p.Asp220Tyr	missense variant	-	NC_000006.12:g.6250843C>A	gnomAD
rs1472561924	p.Ile221Asn	missense variant	-	NC_000006.12:g.6250839A>T	TOPMed
rs1180596453	p.Arg224Gly	missense variant	-	NC_000006.12:g.6250831T>C	TOPMed
rs1354109618	p.Tyr228Cys	missense variant	-	NC_000006.12:g.6250818T>C	gnomAD
rs1312356326	p.Gln230Ter	stop gained	-	NC_000006.12:g.6250813G>A	gnomAD
NCI-TCGA novel	p.Glu232Lys	missense variant	-	NC_000006.12:g.6248416C>T	NCI-TCGA
rs770582130	p.Ile235Asn	missense variant	-	NC_000006.12:g.6248406A>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu236Pro	missense variant	-	NC_000006.12:g.6248403A>G	NCI-TCGA
rs1295891442	p.Asp237Gly	missense variant	-	NC_000006.12:g.6248400T>C	TOPMed
COSM4942983	p.Cys239Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.6248393G>T	NCI-TCGA Cosmic
rs1176119481	p.Tyr241Ter	stop gained	-	NC_000006.12:g.6248387A>C	TOPMed,gnomAD
rs952779640	p.Met243Ile	missense variant	-	NC_000006.12:g.6248381C>T	TOPMed
rs267606788	p.Met243Thr	missense variant	-	NC_000006.12:g.6248382A>G	-
rs777549119	p.Arg245Gly	missense variant	-	NC_000006.12:g.6248377T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala246Val	missense variant	-	NC_000006.12:g.6248373G>A	NCI-TCGA
rs146083032	p.Gln247His	missense variant	-	NC_000006.12:g.6248369T>A	ESP,ExAC,TOPMed,gnomAD
rs577966272	p.Met248Thr	missense variant	-	NC_000006.12:g.6248367A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs754876753	p.Asp249Val	missense variant	-	NC_000006.12:g.6248364T>A	ExAC,gnomAD
rs751510437	p.Ser251Tyr	missense variant	-	NC_000006.12:g.6248358G>T	ExAC,gnomAD
rs1276792457	p.Gly254Arg	missense variant	-	NC_000006.12:g.6248350C>T	gnomAD
rs142092590	p.Lys258Arg	missense variant	-	NC_000006.12:g.6248337T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761960891	p.Val259Leu	missense variant	-	NC_000006.12:g.6248335C>G	ExAC
rs1458820365	p.Arg261Cys	missense variant	-	NC_000006.12:g.6248329G>A	gnomAD
rs121913071	p.Arg261His	missense variant	-	NC_000006.12:g.6248328C>T	ExAC,TOPMed,gnomAD
rs121913071	p.Arg261Leu	missense variant	-	NC_000006.12:g.6248328C>A	ExAC,TOPMed,gnomAD
rs121913071	p.Arg261Pro	missense variant	-	NC_000006.12:g.6248328C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly263Glu	missense variant	-	NC_000006.12:g.6248322C>T	NCI-TCGA
rs1414492888	p.Gly263Arg	missense variant	-	NC_000006.12:g.6248323C>T	gnomAD
rs1452419015	p.Gly263Val	missense variant	-	NC_000006.12:g.6248322C>A	TOPMed
rs1191402172	p.Ser264Phe	missense variant	-	NC_000006.12:g.6248319G>A	gnomAD
rs537101736	p.Val267Met	missense variant	-	NC_000006.12:g.6224860C>T	1000Genomes,ExAC,gnomAD
rs1186497580	p.Asn268Lys	missense variant	-	NC_000006.12:g.6224855A>T	gnomAD
NCI-TCGA novel	p.Ala269Asp	missense variant	-	NC_000006.12:g.6224853G>T	NCI-TCGA
COSM272653	p.Ala269Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6224853G>A	NCI-TCGA Cosmic
rs1259783245	p.Asp271Gly	missense variant	-	NC_000006.12:g.6224847T>C	gnomAD
NCI-TCGA novel	p.Asp272Gly	missense variant	-	NC_000006.12:g.6224844T>C	NCI-TCGA
rs761188694	p.Glu273Lys	missense variant	-	NC_000006.12:g.6224842C>T	ExAC,TOPMed,gnomAD
rs1303550782	p.Gly274Asp	missense variant	-	NC_000006.12:g.6224838C>T	gnomAD
VAR_074282	p.Gly274Val	Missense	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]	-	UniProt
rs764249755	p.Val277Leu	missense variant	-	NC_000006.12:g.6224830C>G	TOPMed,gnomAD
rs1305588852	p.Val277Ala	missense variant	-	NC_000006.12:g.6224829A>G	gnomAD
rs764249755	p.Val277Ile	missense variant	-	NC_000006.12:g.6224830C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gly278Glu	missense variant	-	NC_000006.12:g.6224826C>T	NCI-TCGA
NCI-TCGA novel	p.Trp280Leu	missense variant	-	NC_000006.12:g.6224820C>A	NCI-TCGA
COSM3629119	p.Trp280Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.6224819C>T	NCI-TCGA Cosmic
rs760143900	p.Asn282Asp	missense variant	-	NC_000006.12:g.6224815T>C	ExAC,gnomAD
rs121913074	p.Tyr284Cys	missense variant	-	NC_000006.12:g.6224808T>C	-
rs1310541583	p.Ala285Val	missense variant	-	NC_000006.12:g.6224805G>A	TOPMed,gnomAD
rs769199269	p.Tyr286Cys	missense variant	-	NC_000006.12:g.6224802T>C	ExAC,gnomAD
COSM3875054	p.Tyr286His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6224803A>G	NCI-TCGA Cosmic
rs370205818	p.Val288Ile	missense variant	-	NC_000006.12:g.6224797C>T	ESP,ExAC,TOPMed,gnomAD
COSM4393293	p.Val288Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6224796A>T	NCI-TCGA Cosmic
rs201752338	p.Pro289Thr	missense variant	-	NC_000006.12:g.6224794G>T	1000Genomes,ExAC,gnomAD
rs779843015	p.Pro289Arg	missense variant	-	NC_000006.12:g.6224793G>C	ExAC,TOPMed,gnomAD
rs745800442	p.Pro290Gln	missense variant	-	NC_000006.12:g.6224790G>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro290Thr	missense variant	-	NC_000006.12:g.6224791G>T	NCI-TCGA
rs771954184	p.Pro290Ala	missense variant	-	NC_000006.12:g.6224791G>C	ExAC,gnomAD
COSM3629118	p.Pro290Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6224790G>A	NCI-TCGA Cosmic
COSM1445524	p.Pro290HisPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.6224790G>-	NCI-TCGA Cosmic
VAR_077621	p.Pro290Arg	Missense	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]	-	UniProt
NCI-TCGA novel	p.Ser291IlePheSerTerUnk	frameshift	-	NC_000006.12:g.6224789_6224790insG	NCI-TCGA
rs1252588034	p.Ser291Leu	missense variant	-	NC_000006.12:g.6224787G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala292Asp	missense variant	-	NC_000006.12:g.6224784G>T	NCI-TCGA
rs535694758	p.Ser296Asn	missense variant	-	NC_000006.12:g.6224772C>T	1000Genomes,ExAC,gnomAD
rs199564311	p.Val297Ile	missense variant	-	NC_000006.12:g.6224770C>T	NCI-TCGA,NCI-TCGA Cosmic
rs199564311	p.Val297Ile	missense variant	-	NC_000006.12:g.6224770C>T	1000Genomes,ExAC,TOPMed
rs753065093	p.Asp298Asn	missense variant	-	NC_000006.12:g.6224767C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp298Glu	missense variant	-	NC_000006.12:g.6224765G>T	NCI-TCGA
rs201512428	p.Tyr303His	missense variant	-	NC_000006.12:g.6224752A>G	gnomAD
rs760061730	p.Arg304Trp	missense variant	-	NC_000006.12:g.6224749G>A	ExAC,TOPMed,gnomAD
rs139164988	p.Arg304Gln	missense variant	-	NC_000006.12:g.6224748C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139164988	p.Arg304Gln	missense variant	-	NC_000006.12:g.6224748C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1297979227	p.Ser305Asn	missense variant	-	NC_000006.12:g.6224745C>T	gnomAD
rs906062128	p.Glu307Asp	missense variant	-	NC_000006.12:g.6224738C>A	TOPMed
rs764798947	p.Asn308Ser	missense variant	-	NC_000006.12:g.6224736T>C	ExAC,gnomAD
rs796662757	p.Arg311Trp	missense variant	-	NC_000006.12:g.6224728G>A	TOPMed,gnomAD
rs376482294	p.Arg311Gln	missense variant	-	NC_000006.12:g.6224727C>T	ESP,gnomAD
rs796662757	p.Arg311Trp	missense variant	-	NC_000006.12:g.6224728G>A	NCI-TCGA
NCI-TCGA novel	p.Trp316Leu	missense variant	-	NC_000006.12:g.6224712C>A	NCI-TCGA
rs121913073	p.Val317Phe	missense variant	-	NC_000006.12:g.6224710C>A	gnomAD
NCI-TCGA novel	p.Ala319LeuPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.6224704C>-	NCI-TCGA
COSM6107274	p.Ala319Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6224704C>A	NCI-TCGA Cosmic
COSM6107275	p.Gly320Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6224700C>A	NCI-TCGA Cosmic
rs1417559148	p.Phe325Leu	missense variant	-	NC_000006.12:g.6224686A>G	gnomAD
rs121913072	p.Arg327Gln	missense variant	-	NC_000006.12:g.6222165C>T	ExAC,TOPMed,gnomAD
rs1224733517	p.Arg327Ter	stop gained	-	NC_000006.12:g.6222166G>A	TOPMed
rs997633697	p.Cys328Ser	missense variant	-	NC_000006.12:g.6222163A>T	TOPMed
NCI-TCGA novel	p.Cys328Phe	missense variant	-	NC_000006.12:g.6222162C>A	NCI-TCGA
rs202247810	p.Cys328Ter	stop gained	-	NC_000006.12:g.6222161G>T	gnomAD
NCI-TCGA novel	p.Gly330Glu	missense variant	-	NC_000006.12:g.6222156C>T	NCI-TCGA
NCI-TCGA novel	p.Gly330Arg	missense variant	-	NC_000006.12:g.6222157C>T	NCI-TCGA
rs1281588775	p.Pro332Ser	missense variant	-	NC_000006.12:g.6222151G>A	TOPMed
rs775184900	p.Ala333Thr	missense variant	-	NC_000006.12:g.6222148C>T	ExAC,gnomAD
rs759294043	p.Ala333Gly	missense variant	-	NC_000006.12:g.6222147G>C	ExAC,gnomAD
rs759294043	p.Ala333Val	missense variant	-	NC_000006.12:g.6222147G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala333Glu	missense variant	-	NC_000006.12:g.6222147G>T	NCI-TCGA
COSM292860	p.Arg334Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6222144C>A	NCI-TCGA Cosmic
COSM275033	p.Phe340Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6222125G>T	NCI-TCGA Cosmic
VAR_074283	p.His343Tyr	Missense	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]	-	UniProt
rs1234864708	p.Asp346Tyr	missense variant	-	NC_000006.12:g.6222109C>A	TOPMed
rs770726002	p.Ala347Thr	missense variant	-	NC_000006.12:g.6222106C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala347Val	missense variant	-	NC_000006.12:g.6222105G>A	NCI-TCGA
VAR_074284	p.Ala347Asp	Missense	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]	-	UniProt
NCI-TCGA novel	p.Met351Leu	missense variant	-	NC_000006.12:g.6222094T>A	NCI-TCGA
rs893167528	p.Asp352Asn	missense variant	-	NC_000006.12:g.6222091C>T	TOPMed
COSM6174803	p.Asp352Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6222089G>T	NCI-TCGA Cosmic
rs749280498	p.Ile353Asn	missense variant	-	NC_000006.12:g.6222087A>T	ExAC,gnomAD
rs770054782	p.Phe354Leu	missense variant	-	NC_000006.12:g.6222083G>T	ExAC,gnomAD
NCI-TCGA novel	p.Phe354SerPheSerTerUnk	frameshift	-	NC_000006.12:g.6222086G>-	NCI-TCGA
rs369083276	p.Phe354Tyr	missense variant	-	NC_000006.12:g.6222084A>T	ESP,ExAC,TOPMed,gnomAD
rs748375844	p.Leu355Val	missense variant	-	NC_000006.12:g.6222082G>C	ExAC,TOPMed,gnomAD
rs755343764	p.Glu356Gln	missense variant	-	NC_000006.12:g.6222079C>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu357Lys	missense variant	-	NC_000006.12:g.6222076C>T	NCI-TCGA
COSM1080879	p.Asp358Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6222073C>A	NCI-TCGA Cosmic
COSM1621852	p.Gly359Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6222070C>T	NCI-TCGA Cosmic
rs1053107480	p.Val361Met	missense variant	-	NC_000006.12:g.6222064C>T	TOPMed,gnomAD
rs1053107480	p.Val361Leu	missense variant	-	NC_000006.12:g.6222064C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Trp371CysPheSerTerUnk	frameshift	-	NC_000006.12:g.6222032_6222033insCACA	NCI-TCGA
COSM3629116	p.Trp371Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6222034A>C	NCI-TCGA Cosmic
rs1282213947	p.Tyr373His	missense variant	-	NC_000006.12:g.6197322A>G	gnomAD
rs1194623661	p.His374Tyr	missense variant	-	NC_000006.12:g.6197319G>A	TOPMed
COSM3875052	p.Cys375Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6197316A>G	NCI-TCGA Cosmic
VAR_074285	p.Trp376Arg	Missense	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]	-	UniProt
rs779801062	p.Trp380Arg	missense variant	-	NC_000006.12:g.6197301A>T	ExAC,gnomAD
NCI-TCGA novel	p.Met381Val	missense variant	-	NC_000006.12:g.6197298T>C	NCI-TCGA
COSM451703	p.Met381Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6197298T>A	NCI-TCGA Cosmic
rs750203146	p.Arg383Ser	missense variant	-	NC_000006.12:g.6197290C>A	ExAC,TOPMed,gnomAD
rs750203146	p.Arg383Ser	missense variant	-	NC_000006.12:g.6197290C>G	ExAC,TOPMed,gnomAD
rs1438384454	p.Asp385His	missense variant	-	NC_000006.12:g.6197286C>G	gnomAD
COSM1445522	p.Leu386Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6197283G>T	NCI-TCGA Cosmic
rs888232570	p.Pro387Leu	missense variant	-	NC_000006.12:g.6197279G>A	TOPMed
rs888232570	p.Pro387His	missense variant	-	NC_000006.12:g.6197279G>T	TOPMed
rs761783482	p.Gly389Glu	missense variant	-	NC_000006.12:g.6197273C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly389Arg	missense variant	-	NC_000006.12:g.6197274C>T	NCI-TCGA
rs76451285	p.Ala395Val	missense variant	-	NC_000006.12:g.6197255G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1461384823	p.Asp397His	missense variant	-	NC_000006.12:g.6197250C>G	TOPMed
rs1310503871	p.Ser398Asn	missense variant	-	NC_000006.12:g.6197246C>T	gnomAD
NCI-TCGA novel	p.Pro400Leu	missense variant	-	NC_000006.12:g.6197240G>A	NCI-TCGA
NCI-TCGA novel	p.Gln401ArgPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.6197238G>-	NCI-TCGA
rs1157725177	p.Gln401Ter	stop gained	-	NC_000006.12:g.6197238G>A	gnomAD
rs537966361	p.Ser404Arg	missense variant	-	NC_000006.12:g.6197227G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs775554234	p.Asp405Asn	missense variant	-	NC_000006.12:g.6197226C>T	ExAC,gnomAD
rs138036988	p.Gly406Ala	missense variant	-	NC_000006.12:g.6195885C>G	ESP,ExAC,gnomAD
rs1466465543	p.Met407Leu	missense variant	-	NC_000006.12:g.6195883T>A	TOPMed
rs752786253	p.Arg409Trp	missense variant	-	NC_000006.12:g.6195877G>A	ExAC,TOPMed,gnomAD
rs532879106	p.Arg409Gln	missense variant	-	NC_000006.12:g.6195876C>T	1000Genomes,ExAC,gnomAD
rs532879106	p.Arg409Gln	missense variant	-	NC_000006.12:g.6195876C>T	NCI-TCGA,NCI-TCGA Cosmic
rs532879106	p.Arg409Pro	missense variant	-	NC_000006.12:g.6195876C>G	1000Genomes,ExAC,gnomAD
rs1277440557	p.Cys410Tyr	missense variant	-	NC_000006.12:g.6195873C>T	NCI-TCGA Cosmic
rs1277440557	p.Cys410Tyr	missense variant	-	NC_000006.12:g.6195873C>T	gnomAD
rs1233787620	p.Gly411Ala	missense variant	-	NC_000006.12:g.6195870C>G	gnomAD
rs139636536	p.Ala413Thr	missense variant	-	NC_000006.12:g.6195865C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1396702202	p.Ser414Leu	missense variant	-	NC_000006.12:g.6195861G>A	TOPMed,gnomAD
rs1396702202	p.Ser414Leu	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6195861G>A	UniProt,dbSNP
VAR_074286	p.Ser414Leu	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6195861G>A	UniProt
rs1396702202	p.Ser414Leu	missense variant	-	NC_000006.12:g.6195861G>A	NCI-TCGA Cosmic
rs121913070	p.Val415Phe	missense variant	-	NC_000006.12:g.6195859C>A	gnomAD
VAR_074287	p.Gln416Arg	Missense	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]	-	UniProt
rs1164034636	p.Ile418Thr	missense variant	-	NC_000006.12:g.6195849A>G	TOPMed
rs931153830	p.Lys419Arg	missense variant	-	NC_000006.12:g.6195846T>C	TOPMed,gnomAD
rs770291227	p.Gly421Ser	missense variant	-	NC_000006.12:g.6195841C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly421Asp	missense variant	-	NC_000006.12:g.6195840C>T	NCI-TCGA
rs770291227	p.Gly421Arg	missense variant	-	NC_000006.12:g.6195841C>G	ExAC,gnomAD
COSM3411232	p.Val423Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6195835C>T	NCI-TCGA Cosmic
rs371619552	p.Cys424Tyr	missense variant	-	NC_000006.12:g.6195831C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe425Leu	missense variant	-	NC_000006.12:g.6195829A>G	NCI-TCGA
rs1263527621	p.Phe427Leu	missense variant	-	NC_000006.12:g.6195823A>G	gnomAD
rs1185815070	p.Asp428Asn	missense variant	-	NC_000006.12:g.6195820C>T	gnomAD
rs1380077657	p.Asp428Glu	missense variant	-	NC_000006.12:g.6195818A>C	TOPMed
rs143513902	p.Ala429Val	missense variant	-	NC_000006.12:g.6195816G>A	ESP,ExAC,TOPMed,gnomAD
rs547712318	p.Ala429Ser	missense variant	-	NC_000006.12:g.6195817C>A	gnomAD
rs547712318	p.Ala429Thr	missense variant	-	NC_000006.12:g.6195817C>T	gnomAD
rs143513902	p.Ala429Val	missense variant	-	NC_000006.12:g.6195816G>A	NCI-TCGA
COSM280915	p.Phe433Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6195804A>G	NCI-TCGA Cosmic
rs1386683277	p.Asn437Lys	missense variant	-	NC_000006.12:g.6182136G>C	gnomAD
rs145376560	p.Asp439Asn	missense variant	-	NC_000006.12:g.6182132C>T	ESP,ExAC,TOPMed,gnomAD
rs145376560	p.Asp439Asn	missense variant	-	NC_000006.12:g.6182132C>T	NCI-TCGA
rs1451897876	p.Leu440Phe	missense variant	-	NC_000006.12:g.6182129G>A	gnomAD
COSM1487872	p.Leu440His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6182128A>T	NCI-TCGA Cosmic
rs121913066	p.Tyr442Ter	stop gained	-	NC_000006.12:g.6182121G>T	ExAC,TOPMed,gnomAD
rs998838483	p.Ala445Val	missense variant	-	NC_000006.12:g.6182113G>A	TOPMed
NCI-TCGA novel	p.Ala445Ser	missense variant	-	NC_000006.12:g.6182114C>A	NCI-TCGA
rs754929237	p.Lys446Glu	missense variant	-	NC_000006.12:g.6182111T>C	ExAC
NCI-TCGA novel	p.Asp448Glu	missense variant	-	NC_000006.12:g.6182103A>T	NCI-TCGA
rs1458190494	p.Gly449Asp	missense variant	-	NC_000006.12:g.6182101C>T	TOPMed
rs1174065844	p.Gly449Ser	missense variant	-	NC_000006.12:g.6182102C>T	gnomAD
rs751594692	p.Thr450Ile	missense variant	-	NC_000006.12:g.6182098G>A	ExAC,TOPMed,gnomAD
rs1393018398	p.His451Gln	missense variant	-	NC_000006.12:g.6182094A>C	TOPMed,gnomAD
rs758588092	p.Val452Glu	missense variant	-	NC_000006.12:g.6182092A>T	ExAC,gnomAD
rs373405542	p.Val452Met	missense variant	-	NC_000006.12:g.6182093C>T	ESP,ExAC,gnomAD
rs750668827	p.Val453Gly	missense variant	-	NC_000006.12:g.6182089A>C	ExAC,gnomAD
rs573785951	p.Glu454Lys	missense variant	-	NC_000006.12:g.6182087C>T	ExAC,gnomAD
rs1280546712	p.Asp457Asn	missense variant	-	NC_000006.12:g.6182078C>T	gnomAD
rs754375644	p.Ala458Thr	missense variant	-	NC_000006.12:g.6182075C>T	ExAC,gnomAD
rs1350563778	p.Ala458Val	missense variant	-	NC_000006.12:g.6182074G>A	TOPMed,gnomAD
COSM370901	p.His460Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6182069G>T	NCI-TCGA Cosmic
rs764648743	p.Ile461Thr	missense variant	-	NC_000006.12:g.6182065A>G	ExAC,TOPMed,gnomAD
rs764648743	p.Ile461Ser	missense variant	-	NC_000006.12:g.6182065A>C	ExAC,TOPMed,gnomAD
COSM3629114	p.Gly462Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6182062C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys463Asn	missense variant	-	NC_000006.12:g.6182058T>G	NCI-TCGA
COSM6174804	p.Lys463Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.6182060T>A	NCI-TCGA Cosmic
rs761295168	p.Leu464Val	missense variant	-	NC_000006.12:g.6182057A>C	ExAC,TOPMed,gnomAD
rs1013009273	p.Lys468Arg	missense variant	-	NC_000006.12:g.6182044T>C	TOPMed,gnomAD
rs150455213	p.Gln469Lys	missense variant	-	NC_000006.12:g.6182042G>T	ESP,ExAC,TOPMed,gnomAD
rs150455213	p.Gln469Ter	stop gained	-	NC_000006.12:g.6182042G>A	ESP,ExAC,TOPMed,gnomAD
rs150455213	p.Gln469Glu	missense variant	-	NC_000006.12:g.6182042G>C	ESP,ExAC,TOPMed,gnomAD
rs150455213	p.Gln469Ter	stop gained	-	NC_000006.12:g.6182042G>A	NCI-TCGA
rs1329930380	p.Gly474Ser	missense variant	-	NC_000006.12:g.6182027C>T	TOPMed
rs1399884896	p.Met476Ile	missense variant	-	NC_000006.12:g.6182019C>T	gnomAD
rs1399884896	p.Met476Ile	missense variant	-	NC_000006.12:g.6182019C>G	gnomAD
rs375123237	p.Met476Arg	missense variant	-	NC_000006.12:g.6182020A>C	ESP,ExAC,gnomAD
rs1171712858	p.Ile478Thr	missense variant	-	NC_000006.12:g.6182014A>G	gnomAD
rs1333125114	p.Asp480Asn	missense variant	-	NC_000006.12:g.6182009C>T	TOPMed
NCI-TCGA novel	p.Asp480Val	missense variant	-	NC_000006.12:g.6182008T>A	NCI-TCGA
rs772809768	p.Asp480Glu	missense variant	-	NC_000006.12:g.6182007A>C	ExAC,gnomAD
rs764753561	p.Gln488Glu	missense variant	-	NC_000006.12:g.6174865G>C	ExAC,gnomAD
rs146866566	p.Glu489Gly	missense variant	-	NC_000006.12:g.6174861T>C	ESP,ExAC,gnomAD
rs768496684	p.Arg492Ser	missense variant	-	NC_000006.12:g.6174851T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg492AspPheSerTerUnk	frameshift	-	NC_000006.12:g.6174853T>-	NCI-TCGA
NCI-TCGA novel	p.Arg492Lys	missense variant	-	NC_000006.12:g.6174852C>T	NCI-TCGA
rs775327691	p.Ala494Val	missense variant	-	NC_000006.12:g.6174846G>A	ExAC,gnomAD
NCI-TCGA novel	p.Thr497AspPheSerTerUnk	frameshift	-	NC_000006.12:g.6174838_6174839insC	NCI-TCGA
rs772167756	p.Thr497Ile	missense variant	-	NC_000006.12:g.6174837G>A	NCI-TCGA
rs772167756	p.Thr497Ile	missense variant	-	NC_000006.12:g.6174837G>A	ExAC,gnomAD
rs941140530	p.Ala498Val	missense variant	-	NC_000006.12:g.6174834G>A	-
rs941140530	p.Ala498Val	missense variant	-	NC_000006.12:g.6174834G>A	NCI-TCGA
rs745888361	p.Ala498Ser	missense variant	-	NC_000006.12:g.6174835C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu499Met	missense variant	-	NC_000006.12:g.6174832G>T	NCI-TCGA
rs757488075	p.Met500Ile	missense variant	-	NC_000006.12:g.6174827C>T	ExAC,TOPMed,gnomAD
rs121913068	p.Gly502Arg	missense variant	-	NC_000006.12:g.6174823C>T	ExAC,TOPMed,gnomAD
rs568468779	p.Ala503Thr	missense variant	-	NC_000006.12:g.6174820C>T	1000Genomes,ExAC,gnomAD
COSM3922049	p.Ala503Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6174819G>A	NCI-TCGA Cosmic
rs753219637	p.Lys505Met	missense variant	-	NC_000006.12:g.6174813T>A	ExAC,gnomAD
NCI-TCGA novel	p.Lys505Glu	missense variant	-	NC_000006.12:g.6174814T>C	NCI-TCGA
NCI-TCGA novel	p.Lys505SerPheSerTerUnk	frameshift	-	NC_000006.12:g.6174813T>-	NCI-TCGA
NCI-TCGA novel	p.Pro506Thr	missense variant	-	NC_000006.12:g.6174811G>T	NCI-TCGA
NCI-TCGA novel	p.Leu507Ile	missense variant	-	NC_000006.12:g.6174808G>T	NCI-TCGA
rs755537153	p.Asn508Lys	missense variant	-	NC_000006.12:g.6174803G>T	ExAC,TOPMed,gnomAD
rs1001752945	p.Asn508Asp	missense variant	-	NC_000006.12:g.6174805T>C	TOPMed
rs1178415419	p.Gly511Ser	missense variant	-	NC_000006.12:g.6174796C>T	TOPMed
NCI-TCGA novel	p.Val512Ala	missense variant	-	NC_000006.12:g.6174792A>G	NCI-TCGA
rs1380447934	p.Met513Lys	missense variant	-	NC_000006.12:g.6174789A>T	TOPMed
rs749832625	p.Met513Leu	missense variant	-	NC_000006.12:g.6174790T>G	ExAC,gnomAD
rs764813277	p.Ser515Pro	missense variant	-	NC_000006.12:g.6174784A>G	ExAC,gnomAD
rs760510692	p.Arg516Ser	missense variant	-	NC_000006.12:g.6174779C>A	ExAC,gnomAD
rs763844189	p.Arg516Lys	missense variant	-	NC_000006.12:g.6174780C>T	ExAC,gnomAD
rs776332995	p.Arg516Gly	missense variant	-	NC_000006.12:g.6174781T>C	ExAC,gnomAD
rs369134587	p.Asn518Ser	missense variant	-	NC_000006.12:g.6174774T>C	ESP,ExAC,TOPMed,gnomAD
rs771866520	p.Asn518His	missense variant	-	NC_000006.12:g.6174775T>G	ExAC,TOPMed,gnomAD
rs771196991	p.Val519Ile	missense variant	-	NC_000006.12:g.6174772C>T	ExAC,TOPMed,gnomAD
rs1224605741	p.Val519Ala	missense variant	-	NC_000006.12:g.6174771A>G	gnomAD
rs1224605741	p.Val519Gly	missense variant	-	NC_000006.12:g.6174771A>C	gnomAD
rs1224605741	p.Val519Ala	missense variant	-	NC_000006.12:g.6174771A>G	NCI-TCGA
rs140037971	p.Asp520Asn	missense variant	-	NC_000006.12:g.6174769C>T	ESP,TOPMed,gnomAD
rs547064561	p.Met521Leu	missense variant	-	NC_000006.12:g.6174766T>G	1000Genomes,ExAC,gnomAD
rs1239097473	p.Met521Thr	missense variant	-	NC_000006.12:g.6174765A>G	gnomAD
rs1264941291	p.Glu524Lys	missense variant	-	NC_000006.12:g.6174757C>T	TOPMed,gnomAD
rs770263296	p.Val525Ala	missense variant	-	NC_000006.12:g.6174753A>G	ExAC,gnomAD
VAR_074288	p.Leu530Pro	Missense	Factor XIII subunit A deficiency (FA13AD) [MIM:613225]	-	UniProt
NCI-TCGA novel	p.Asp533Gly	missense variant	-	NC_000006.12:g.6174729T>C	NCI-TCGA
rs1376318084	p.Asp533Tyr	missense variant	-	NC_000006.12:g.6174730C>A	NCI-TCGA Cosmic
rs1376318084	p.Asp533Tyr	missense variant	-	NC_000006.12:g.6174730C>A	TOPMed
rs755377836	p.Phe534Ile	missense variant	-	NC_000006.12:g.6174727A>T	ExAC,gnomAD
NCI-TCGA novel	p.Phe534Ser	missense variant	-	NC_000006.12:g.6174726A>G	NCI-TCGA
rs778389185	p.Lys535Asn	missense variant	-	NC_000006.12:g.6174722C>A	ExAC,TOPMed,gnomAD
rs151032137	p.Lys535Arg	missense variant	-	NC_000006.12:g.6174723T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys535Met	missense variant	-	NC_000006.12:g.6174723T>A	NCI-TCGA
rs1347040527	p.Ile538Val	missense variant	-	NC_000006.12:g.6174715T>C	TOPMed
NCI-TCGA novel	p.Phe540Leu	missense variant	-	NC_000006.12:g.6174709A>G	NCI-TCGA
rs1396045292	p.Arg541Trp	missense variant	-	NC_000006.12:g.6174706G>A	TOPMed,gnomAD
rs367679357	p.Arg541Leu	missense variant	-	NC_000006.12:g.6174705C>A	ESP,ExAC,TOPMed,gnomAD
rs1396045292	p.Arg541Trp	missense variant	-	NC_000006.12:g.6174706G>A	NCI-TCGA Cosmic
rs367679357	p.Arg541Gln	missense variant	-	NC_000006.12:g.6174705C>T	ESP,ExAC,TOPMed,gnomAD
rs367679357	p.Arg541Gln	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6174705C>T	UniProt,dbSNP
VAR_077622	p.Arg541Gln	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6174705C>T	UniProt
NCI-TCGA novel	p.Asn542Lys	missense variant	-	NC_000006.12:g.6174701G>T	NCI-TCGA
rs760408760	p.Asn542Ser	missense variant	-	NC_000006.12:g.6174702T>C	ExAC,gnomAD
rs752370685	p.Asn543Thr	missense variant	-	NC_000006.12:g.6174699T>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser544Arg	missense variant	-	NC_000006.12:g.6174697T>G	NCI-TCGA
rs374508373	p.Arg547His	missense variant	-	NC_000006.12:g.6174687C>T	ESP,ExAC,TOPMed,gnomAD
rs767358574	p.Arg547Cys	missense variant	-	NC_000006.12:g.6174688G>A	ExAC,TOPMed,gnomAD
rs374508373	p.Arg547Leu	missense variant	-	NC_000006.12:g.6174687C>A	ESP,ExAC,TOPMed,gnomAD
rs374508373	p.Arg547His	missense variant	-	NC_000006.12:g.6174687C>T	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg547ValPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.6174688G>-	NCI-TCGA
rs767358574	p.Arg547Ser	missense variant	-	NC_000006.12:g.6174688G>T	ExAC,TOPMed,gnomAD
rs767358574	p.Arg547Ser	missense variant	-	NC_000006.12:g.6174688G>T	NCI-TCGA
rs5984	p.Thr551Ile	missense variant	-	NC_000006.12:g.6174675G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771107452	p.Ala552Thr	missense variant	-	NC_000006.12:g.6174673C>T	ExAC,gnomAD
rs201203914	p.Ser555Leu	missense variant	-	NC_000006.12:g.6174663G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ala556Thr	missense variant	-	NC_000006.12:g.6174661C>T	NCI-TCGA
rs773451190	p.Ala556Gly	missense variant	-	NC_000006.12:g.6174660G>C	ExAC,gnomAD
rs748413307	p.Thr559Asn	missense variant	-	NC_000006.12:g.6174651G>T	ExAC,gnomAD
COSM1080875	p.Thr562Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6174642G>T	NCI-TCGA Cosmic
rs121913069	p.Gly563Arg	missense variant	-	NC_000006.12:g.6174640C>T	ExAC,TOPMed,gnomAD
rs747441200	p.Gly563Glu	missense variant	-	NC_000006.12:g.6174639C>T	ExAC,gnomAD
rs121913069	p.Gly563Trp	missense variant	-	NC_000006.12:g.6174640C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val564SerPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.6174637C>-	NCI-TCGA
rs5982	p.Pro565Leu	missense variant	-	NC_000006.12:g.6174633G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766867184	p.Pro565Ser	missense variant	-	NC_000006.12:g.6174634G>A	ExAC,gnomAD
rs766867184	p.Pro565Ala	missense variant	-	NC_000006.12:g.6174634G>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys566Asn	missense variant	-	NC_000006.12:g.6174629C>A	NCI-TCGA
rs113599940	p.Thr573Met	missense variant	-	NC_000006.12:g.6174609G>A	NCI-TCGA,NCI-TCGA Cosmic
rs113599940	p.Thr573Met	missense variant	-	NC_000006.12:g.6174609G>A	ExAC,TOPMed,gnomAD
rs1216251359	p.Phe574Leu	missense variant	-	NC_000006.12:g.6174607A>G	gnomAD
rs201444282	p.Asp575His	missense variant	-	NC_000006.12:g.6174604C>G	ExAC,gnomAD
rs201444282	p.Asp575Asn	missense variant	-	NC_000006.12:g.6174604C>T	NCI-TCGA,NCI-TCGA Cosmic
rs201444282	p.Asp575Asn	missense variant	-	NC_000006.12:g.6174604C>T	ExAC,gnomAD
rs61734486	p.Val576Met	missense variant	-	NC_000006.12:g.6174601C>T	ESP,ExAC,TOPMed,gnomAD
rs61734486	p.Val576Leu	missense variant	-	NC_000006.12:g.6174601C>A	ESP,ExAC,TOPMed,gnomAD
rs143711562	p.Thr577Met	missense variant	-	NC_000006.12:g.6174597G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1376133031	p.Leu581Val	missense variant	-	NC_000006.12:g.6174586A>C	gnomAD
rs775862233	p.Ser582Phe	missense variant	-	NC_000006.12:g.6174582G>A	ExAC,gnomAD
rs774882469	p.Phe583Cys	missense variant	-	NC_000006.12:g.6167618A>C	ExAC
rs1000746313	p.Ala587Val	missense variant	-	NC_000006.12:g.6167606G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala587Glu	missense variant	-	NC_000006.12:g.6167606G>T	NCI-TCGA
rs1456401225	p.Ala587Thr	missense variant	-	NC_000006.12:g.6167607C>T	gnomAD
rs5983	p.Leu589Gln	missense variant	-	NC_000006.12:g.6167600A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile590Met	missense variant	-	NC_000006.12:g.6167596G>C	NCI-TCGA
rs138754417	p.Gly593Ser	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6167589C>T	UniProt,dbSNP
VAR_077623	p.Gly593Ser	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6167589C>T	UniProt
rs138754417	p.Gly593Ser	missense variant	-	NC_000006.12:g.6167589C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs529985469	p.Glu594Lys	missense variant	-	NC_000006.12:g.6167586C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1277387741	p.Glu594Asp	missense variant	-	NC_000006.12:g.6167584C>G	TOPMed,gnomAD
rs1331319994	p.Met596Ile	missense variant	-	NC_000006.12:g.6167578C>T	TOPMed,gnomAD
rs1331319994	p.Met596Ile	missense variant	-	NC_000006.12:g.6167578C>A	TOPMed,gnomAD
rs1195989968	p.Met596Leu	missense variant	-	NC_000006.12:g.6167580T>A	TOPMed,gnomAD
rs201173378	p.Gly597Val	missense variant	-	NC_000006.12:g.6167576C>A	ExAC,TOPMed,gnomAD
rs1387850086	p.Gly597Cys	missense variant	-	NC_000006.12:g.6167577C>A	TOPMed,gnomAD
rs201173378	p.Gly597Asp	missense variant	-	NC_000006.12:g.6167576C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu601Lys	missense variant	-	NC_000006.12:g.6167565C>T	NCI-TCGA
rs757172838	p.Gln602Lys	missense variant	-	NC_000006.12:g.6167562G>T	ExAC
rs757172838	p.Gln602Lys	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6167562G>T	UniProt,dbSNP
VAR_074289	p.Gln602Lys	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6167562G>T	UniProt
rs376690763	p.Ala603Thr	missense variant	-	NC_000006.12:g.6167559C>T	ESP,TOPMed
rs148207995	p.Ala603Val	missense variant	-	NC_000006.12:g.6167558G>A	ESP,ExAC,TOPMed,gnomAD
COSM743394	p.Ala603Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6167558G>C	NCI-TCGA Cosmic
rs373723380	p.His606Asn	missense variant	-	NC_000006.12:g.6167550G>T	ESP,ExAC,gnomAD
rs775757965	p.His606Pro	missense variant	-	NC_000006.12:g.6167549T>G	ExAC,gnomAD
rs1355689812	p.Val609Ile	missense variant	-	NC_000006.12:g.6167541C>T	TOPMed
rs777280256	p.Ala611Gly	missense variant	-	NC_000006.12:g.6167534G>C	ExAC,TOPMed,gnomAD
rs369187276	p.Arg612Pro	missense variant	-	NC_000006.12:g.6167531C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369187276	p.Arg612His	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6167531C>T	UniProt,dbSNP
VAR_077624	p.Arg612His	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6167531C>T	UniProt
rs369187276	p.Arg612His	missense variant	-	NC_000006.12:g.6167531C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771433623	p.Arg612Cys	missense variant	-	NC_000006.12:g.6167532G>A	ExAC,TOPMed,gnomAD
rs140646752	p.Ile613Leu	missense variant	-	NC_000006.12:g.6167529T>G	ESP,gnomAD
rs768343908	p.Ile613Met	missense variant	-	NC_000006.12:g.6167527G>C	ExAC,gnomAD
rs140646752	p.Ile613Val	missense variant	-	NC_000006.12:g.6167529T>C	ESP,gnomAD
rs1213983804	p.Asn614Ser	missense variant	-	NC_000006.12:g.6167525T>C	gnomAD
rs1216470597	p.Arg617Ser	missense variant	-	NC_000006.12:g.6167515C>A	TOPMed
rs746626360	p.Arg617Met	missense variant	-	NC_000006.12:g.6167516C>A	ExAC,TOPMed,gnomAD
COSM6107278	p.Asp618Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6167513T>C	NCI-TCGA Cosmic
rs779898586	p.Leu620Met	missense variant	-	NC_000006.12:g.6167508G>T	ExAC,gnomAD
rs1299305128	p.Ala621Val	missense variant	-	NC_000006.12:g.6167504G>A	gnomAD
rs145180358	p.Ala621Ser	missense variant	-	NC_000006.12:g.6167505C>A	ExAC,TOPMed,gnomAD
COSM3875046	p.Ala621Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6167504G>T	NCI-TCGA Cosmic
rs141416839	p.Lys622Glu	missense variant	-	NC_000006.12:g.6167502T>C	ESP,ExAC,TOPMed,gnomAD
COSM1251652	p.Lys624Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6167495T>G	NCI-TCGA Cosmic
rs1333644897	p.Ser625Cys	missense variant	-	NC_000006.12:g.6167492G>C	gnomAD
rs145219717	p.Ser625Ala	missense variant	-	NC_000006.12:g.6167493A>C	ESP
rs200830173	p.Val627Met	missense variant	-	NC_000006.12:g.6167487C>T	1000Genomes,ExAC,gnomAD
rs756227463	p.Thr629Pro	missense variant	-	NC_000006.12:g.6167481T>G	ExAC
rs1478982047	p.Pro631Ser	missense variant	-	NC_000006.12:g.6167475G>A	TOPMed,gnomAD
rs1478982047	p.Pro631Thr	missense variant	-	NC_000006.12:g.6167475G>T	TOPMed,gnomAD
rs752897176	p.Glu632Gln	missense variant	-	NC_000006.12:g.6167472C>G	ExAC,gnomAD
rs1428649047	p.Glu632Asp	missense variant	-	NC_000006.12:g.6167470C>A	gnomAD
NCI-TCGA novel	p.Glu632Lys	missense variant	-	NC_000006.12:g.6167472C>T	NCI-TCGA
rs372738301	p.Ile635Thr	missense variant	-	NC_000006.12:g.6167462A>G	ESP,ExAC,gnomAD
COSM6107279	p.Ile635Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6167462A>T	NCI-TCGA Cosmic
rs1447436602	p.Val637Asp	missense variant	-	NC_000006.12:g.6151948A>T	gnomAD
rs1483793682	p.Val637Ile	missense variant	-	NC_000006.12:g.6151949C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Val637SerTerVal	stop gained	-	NC_000006.12:g.6151946_6151947insGACCTAAGA	NCI-TCGA
rs767194567	p.Arg638His	missense variant	-	NC_000006.12:g.6151945C>T	ExAC,TOPMed,gnomAD
rs200803360	p.Arg638Cys	missense variant	-	NC_000006.12:g.6151946G>A	1000Genomes,ExAC,gnomAD
rs1464682298	p.Gly639Asp	missense variant	-	NC_000006.12:g.6151942C>T	gnomAD
rs1413856832	p.Thr640Ala	missense variant	-	NC_000006.12:g.6151940T>C	gnomAD
rs759223840	p.Gln641Arg	missense variant	-	NC_000006.12:g.6151936T>C	ExAC,TOPMed,gnomAD
COSM3777795	p.Gln641Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.6151937G>A	NCI-TCGA Cosmic
rs1367091013	p.Val642Ile	missense variant	-	NC_000006.12:g.6151934C>T	gnomAD
rs1187223613	p.Val643Phe	missense variant	-	NC_000006.12:g.6151931C>A	gnomAD
rs773917573	p.Asp646Tyr	missense variant	-	NC_000006.12:g.6151922C>A	ExAC,gnomAD
rs17852475	p.Thr650Ile	missense variant	-	NC_000006.12:g.6151909G>A	-
rs17852475	p.Thr650Ile	missense variant	-	NC_000006.12:g.6151909G>A	UniProt,dbSNP
VAR_060545	p.Thr650Ile	missense variant	-	NC_000006.12:g.6151909G>A	UniProt
rs5987	p.Val651Ile	missense variant	-	NC_000006.12:g.6151907C>T	1000Genomes,ESP,TOPMed,gnomAD
rs1230247715	p.Glu652Val	missense variant	-	NC_000006.12:g.6151903T>A	gnomAD
rs5988	p.Glu652Gln	missense variant	-	NC_000006.12:g.6151904C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu652AspPheSerTerUnk	frameshift	-	NC_000006.12:g.6151902C>-	NCI-TCGA
rs1457923339	p.Asn655Ser	missense variant	-	NC_000006.12:g.6151894T>C	TOPMed
NCI-TCGA novel	p.Asn655Thr	missense variant	-	NC_000006.12:g.6151894T>G	NCI-TCGA
rs1291084317	p.Pro656His	missense variant	-	NC_000006.12:g.6151891G>T	gnomAD
rs773025163	p.Pro656Ser	missense variant	-	NC_000006.12:g.6151892G>A	ExAC,gnomAD
COSM1496361	p.Leu657Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6151887T>G	NCI-TCGA Cosmic
rs1197509877	p.Glu659Asp	missense variant	-	NC_000006.12:g.6151881T>G	TOPMed
COSM1205921	p.Glu659Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000006.12:g.6151883C>A	NCI-TCGA Cosmic
rs1283401736	p.Thr660Asn	missense variant	-	NC_000006.12:g.6151879G>T	gnomAD
rs769656856	p.Leu661Val	missense variant	-	NC_000006.12:g.6151877G>C	ExAC,gnomAD
rs1378792617	p.Leu661Pro	missense variant	-	NC_000006.12:g.6151876A>G	gnomAD
rs267606789	p.Arg662Ter	stop gained	-	NC_000006.12:g.6151874G>A	ExAC,TOPMed,gnomAD
rs781240042	p.Arg662Gln	missense variant	-	NC_000006.12:g.6151873C>T	NCI-TCGA,NCI-TCGA Cosmic
rs267606789	p.Arg662Ter	stop gained	-	NC_000006.12:g.6151874G>A	NCI-TCGA,NCI-TCGA Cosmic
rs781240042	p.Arg662Gln	missense variant	-	NC_000006.12:g.6151873C>T	ExAC,TOPMed,gnomAD
rs1011623843	p.Asn663Asp	missense variant	-	NC_000006.12:g.6151871T>C	TOPMed
rs755050356	p.His667Arg	missense variant	-	NC_000006.12:g.6151858T>C	ExAC,gnomAD
NCI-TCGA novel	p.His667Gln	missense variant	-	NC_000006.12:g.6151857G>T	NCI-TCGA
rs1173258177	p.Leu668Pro	missense variant	-	NC_000006.12:g.6151855A>G	TOPMed
rs570157317	p.Leu668Val	missense variant	-	NC_000006.12:g.6151856G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs375129902	p.Asp669Gly	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6151852T>C	UniProt,dbSNP
VAR_077625	p.Asp669Gly	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6151852T>C	UniProt
rs375129902	p.Asp669Gly	missense variant	-	NC_000006.12:g.6151852T>C	ESP,ExAC,TOPMed,gnomAD
COSM743395	p.Asp669Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6151852T>A	NCI-TCGA Cosmic
rs758286692	p.Gly670Asp	missense variant	-	NC_000006.12:g.6151849C>T	gnomAD
rs1329430042	p.Gly670Ser	missense variant	-	NC_000006.12:g.6151850C>T	TOPMed
rs750685276	p.Val673Ile	missense variant	-	NC_000006.12:g.6151841C>T	ExAC,TOPMed,gnomAD
rs765709112	p.Arg675Lys	missense variant	-	NC_000006.12:g.6151834C>T	ExAC,gnomAD
rs765709112	p.Arg675Ile	missense variant	-	NC_000006.12:g.6151834C>A	ExAC,gnomAD
rs911743789	p.Met677Thr	missense variant	-	NC_000006.12:g.6151828A>G	TOPMed,gnomAD
rs371964182	p.Met677Val	missense variant	-	NC_000006.12:g.6151829T>C	ESP,ExAC,TOPMed,gnomAD
rs551878781	p.Met677Ile	missense variant	-	NC_000006.12:g.6151827C>T	1000Genomes,ExAC,gnomAD
rs201302247	p.Lys679Met	missense variant	-	NC_000006.12:g.6151822T>A	ESP,ExAC,TOPMed,gnomAD
rs1355659348	p.Phe681Cys	missense variant	-	NC_000006.12:g.6151816A>C	gnomAD
rs121913064	p.Arg682His	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6151813C>T	UniProt,dbSNP
VAR_007474	p.Arg682His	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6151813C>T	UniProt
rs121913064	p.Arg682His	missense variant	-	NC_000006.12:g.6151813C>T	ESP,ExAC,TOPMed,gnomAD
rs759017674	p.Arg682Cys	missense variant	-	NC_000006.12:g.6151814G>A	ExAC,TOPMed,gnomAD
rs121913064	p.Arg682Leu	missense variant	-	NC_000006.12:g.6151813C>A	ESP,ExAC,TOPMed,gnomAD
COSM3629112	p.Ile684Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6145768T>A	NCI-TCGA Cosmic
rs764461653	p.Arg685Trp	missense variant	-	NC_000006.12:g.6145765G>A	ExAC,TOPMed,gnomAD
rs184352526	p.Arg685Leu	missense variant	-	NC_000006.12:g.6145764C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs764461653	p.Arg685Trp	missense variant	-	NC_000006.12:g.6145765G>A	NCI-TCGA,NCI-TCGA Cosmic
rs184352526	p.Arg685Gln	missense variant	-	NC_000006.12:g.6145764C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro686His	missense variant	-	NC_000006.12:g.6145761G>T	NCI-TCGA
rs1360084850	p.Pro686Ser	missense variant	-	NC_000006.12:g.6145762G>A	gnomAD
rs1318599717	p.Pro686Leu	missense variant	-	NC_000006.12:g.6145761G>A	TOPMed
NCI-TCGA novel	p.Ser688Phe	missense variant	-	NC_000006.12:g.6145755G>A	NCI-TCGA
rs1428685680	p.Val690Gly	missense variant	-	NC_000006.12:g.6145749A>C	TOPMed,gnomAD
rs762504395	p.Val690Leu	missense variant	-	NC_000006.12:g.6145750C>G	ExAC,TOPMed,gnomAD
rs762504395	p.Val690Met	missense variant	-	NC_000006.12:g.6145750C>T	ExAC,TOPMed,gnomAD
rs1027622102	p.Gln691Arg	missense variant	-	NC_000006.12:g.6145746T>C	TOPMed,gnomAD
rs1171402693	p.Gln691Ter	stop gained	-	NC_000006.12:g.6145747G>A	gnomAD
rs750112667	p.Trp692Arg	missense variant	-	NC_000006.12:g.6145744A>G	ExAC,gnomAD
rs764990686	p.Glu693Gln	missense variant	-	NC_000006.12:g.6145741C>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu693LysPheSerTerUnkUnk	frameshift	-	NC_000006.12:g.6145741C>-	NCI-TCGA
COSM1251653	p.Glu694Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6145736T>G	NCI-TCGA Cosmic
rs761544689	p.Val695Ala	missense variant	-	NC_000006.12:g.6145734A>G	ExAC,gnomAD
rs776438603	p.Arg697Trp	missense variant	-	NC_000006.12:g.6145729G>A	ExAC,TOPMed,gnomAD
rs768408371	p.Arg697Leu	missense variant	-	NC_000006.12:g.6145728C>A	ExAC,gnomAD
rs768408371	p.Arg697Gln	missense variant	-	NC_000006.12:g.6145728C>T	ExAC,gnomAD
rs768408371	p.Arg697Leu	missense variant	-	NC_000006.12:g.6145728C>A	NCI-TCGA Cosmic
rs760672810	p.Pro698Leu	missense variant	-	NC_000006.12:g.6145725G>A	ExAC,TOPMed,gnomAD
rs1315490476	p.Trp699Gly	missense variant	-	NC_000006.12:g.6145723A>C	gnomAD
rs1180962762	p.Ser701Ala	missense variant	-	NC_000006.12:g.6145717A>C	gnomAD
rs1396234969	p.Ser701Cys	missense variant	-	NC_000006.12:g.6145716G>C	gnomAD
NCI-TCGA novel	p.Gly702Trp	missense variant	-	NC_000006.12:g.6145714C>A	NCI-TCGA
COSM3928567	p.Gly702Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6145714C>T	NCI-TCGA Cosmic
rs377484555	p.Arg704Gln	missense variant	-	NC_000006.12:g.6145707C>T	ESP,ExAC,gnomAD
rs267606787	p.Arg704Trp	missense variant	-	NC_000006.12:g.6145708G>A	ExAC,gnomAD
rs267606787	p.Arg704Trp	missense variant	-	NC_000006.12:g.6145708G>A	NCI-TCGA,NCI-TCGA Cosmic
rs377484555	p.Arg704Gln	missense variant	-	NC_000006.12:g.6145707C>T	NCI-TCGA
rs746057077	p.Lys705Asn	missense variant	-	NC_000006.12:g.6145703C>A	ExAC,gnomAD
rs779328579	p.Ile707Thr	missense variant	-	NC_000006.12:g.6145698A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser709Ile	missense variant	-	NC_000006.12:g.6145692C>A	NCI-TCGA
rs1332164056	p.Ser709Arg	missense variant	-	NC_000006.12:g.6145691G>C	TOPMed,gnomAD
rs140537838	p.Met710Ile	missense variant	-	NC_000006.12:g.6145688C>T	ESP,ExAC,TOPMed,gnomAD
COSM3629110	p.Leu715Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000006.12:g.6145674A>G	NCI-TCGA Cosmic
rs753309468	p.Arg716Ser	missense variant	-	NC_000006.12:g.6145670T>A	ExAC,TOPMed,gnomAD
rs778206273	p.Arg716Gly	missense variant	-	NC_000006.12:g.6145672T>C	ExAC,gnomAD
rs778206273	p.Arg716Gly	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6145672T>C	UniProt,dbSNP
VAR_074291	p.Arg716Gly	missense variant	Factor XIII subunit A deficiency (FA13AD)	NC_000006.12:g.6145672T>C	UniProt
rs147189258	p.Arg716Lys	missense variant	-	NC_000006.12:g.6145671C>T	ESP,ExAC,TOPMed,gnomAD
rs757948077	p.Val718Ala	missense variant	-	NC_000006.12:g.6145665A>G	ExAC,gnomAD
rs866727278	p.Gly720Ser	missense variant	-	NC_000006.12:g.6145660C>T	TOPMed,gnomAD
rs533127151	p.Glu721Lys	missense variant	-	NC_000006.12:g.6145657C>T	ExAC,gnomAD
rs764006374	p.Val724Ala	missense variant	-	NC_000006.12:g.6145647A>G	ExAC,gnomAD
rs753570651	p.Val724Leu	missense variant	-	NC_000006.12:g.6145648C>G	ExAC,TOPMed,gnomAD
rs753570651	p.Val724Met	missense variant	-	NC_000006.12:g.6145648C>T	ExAC,TOPMed,gnomAD
rs760524511	p.Gln725Lys	missense variant	-	NC_000006.12:g.6145645G>T	ExAC
rs1417549782	p.Gln725Arg	missense variant	-	NC_000006.12:g.6145644T>C	TOPMed
NCI-TCGA novel	p.Gln727Ter	stop gained	-	NC_000006.12:g.6145639G>A	NCI-TCGA
rs759640593	p.Arg729Gln	missense variant	-	NC_000006.12:g.6145632C>T	ExAC,TOPMed,gnomAD
rs772023860	p.Arg729Ter	stop gained	-	NC_000006.12:g.6145633G>A	ExAC,gnomAD
rs759640593	p.Arg729Gln	missense variant	-	NC_000006.12:g.6145632C>T	NCI-TCGA,NCI-TCGA Cosmic
rs774606062	p.Pro730Ser	missense variant	-	NC_000006.12:g.6145630G>A	ExAC,TOPMed,gnomAD
rs774606062	p.Pro730Ala	missense variant	-	NC_000006.12:g.6145630G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser731Phe	missense variant	-	NC_000006.12:g.6145626G>A	NCI-TCGA
rs1458628143	p.Met732Ile	missense variant	-	NC_000006.12:g.6145622C>T	gnomAD
rs771213534	p.Met732Lys	missense variant	-	NC_000006.12:g.6145623A>T	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002395	Alzheimer's Disease	disease	BEFREE
C0002893	Refractory anemias	disease	BEFREE
C0003850	Arteriosclerosis	disease	BEFREE
C0003873	Rheumatoid Arthritis	disease	BEFREE
C0004096	Asthma	disease	BEFREE
C0004153	Atherosclerosis	disease	BEFREE
C0005779	Blood Coagulation Disorders	group	BEFREE
C0007820	Cerebrovascular Disorders	group	BEFREE
C0008924	Cleft upper lip	disease	BEFREE
C0008925	Cleft Palate	disease	BEFREE
C0010054	Coronary Arteriosclerosis	disease	BEFREE
C0010068	Coronary heart disease	disease	BEFREE
C0010346	Crohn Disease	disease	LHGDN
C0012739	Disseminated Intravascular Coagulation	disease	LHGDN
C0014591	Epistaxis	phenotype	HPO
C0015530	Hereditary Factor XIII Deficiency	disease	BEFREE;CTD_human;LHGDN;MGD;ORPHANET
C0018924	Hemarthrosis	phenotype	HPO
C0019693	HIV Infections	group	BEFREE
C0020179	Huntington Disease	disease	BEFREE
C0020445	Hypercholesterolemia, Familial	disease	GENOMICS_ENGLAND
C0020757	Ichthyoses	disease	BEFREE
C0020758	Congenital ichthyosis	disease	BEFREE
C0023223	Leg Ulcer	disease	LHGDN
C0023487	Acute Promyelocytic Leukemia	disease	BEFREE
C0025286	Meningioma	disease	BEFREE
C0027051	Myocardial Infarction	disease	BEFREE;CTD_human;LHGDN
C0033860	Psoriasis	disease	BEFREE
C0034065	Pulmonary Embolism	disease	BEFREE;LHGDN
C0036220	Kaposi Sarcoma	disease	BEFREE
C0038358	Gastric ulcer	disease	RGD
C0038454	Cerebrovascular accident	group	LHGDN
C0040053	Thrombosis	phenotype	LHGDN
C0042344	Varicose Ulcer	disease	LHGDN
C0042485	Venous Insufficiency	disease	LHGDN
C0042487	Venous Thrombosis	phenotype	CTD_human;LHGDN
C0087012	Ataxia, Spinocerebellar	disease	BEFREE
C0149871	Deep Vein Thrombosis	disease	CTD_human
C0151699	Intracranial Hemorrhages	group	HPO
C0153690	Secondary malignant neoplasm of bone	disease	BEFREE
C0162820	Dermatitis, Allergic Contact	disease	CTD_human
C0238339	Hereditary pancreatitis	disease	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0270850	Idiopathic generalized epilepsy	disease	BEFREE
C0272350	Dysfibrinogenemia, Congenital	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE;GWASDB
C0398623	Thrombophilia	disease	CTD_human
C0423798	Increased tendency to bruise	phenotype	HPO
C0600139	Prostate carcinoma	disease	BEFREE;GWASDB
C0684249	Carcinoma of lung	disease	BEFREE
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0948008	Ischemic stroke	disease	BEFREE
C1167912	Coagulation factor measurement	group	GWASCAT;GWASDB
C1285162	Degenerative disorder	group	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1697453	Spontaneous hematomas	disease	HPO
C1837218	Cleft palate, isolated	disease	BEFREE
C1861172	Venous Thromboembolism	phenotype	LHGDN
C1956346	Coronary Artery Disease	disease	BEFREE;LHGDN
C1961102	Precursor Cell Lymphoblastic Leukemia Lymphoma	disease	LHGDN
C2750514	Factor Xiii, A Subunit, Deficiency Of	phenotype	CLINVAR;CTD_human;UNIPROT
C2981150	Uranostaphyloschisis	disease	BEFREE
C4024692	Reduced factor XIII activity	phenotype	HPO
C4531300	Frequent nosebleeds	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	IBA
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	IDA
GO:0046872	metal ion binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0002576	platelet degranulation	TAS
GO:0007596	blood coagulation	TAS
GO:0018149	peptide cross-linking	IBA
GO:0018149	peptide cross-linking	IDA
GO:0019221	cytokine-mediated signaling pathway	TAS
GO:0072378	blood coagulation, fibrin clot formation	IBA
GO:0072378	blood coagulation, fibrin clot formation	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	TAS
GO:0031093	platelet alpha granule lumen	TAS
GO:0062023	collagen-containing extracellular matrix	HDA
GO:0072562	blood microparticle	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-109582	Hemostasis	TAS
R-HSA-114608	Platelet degranulation	TAS
R-HSA-1280215	Cytokine Signaling in Immune system	TAS
R-HSA-140875	Common Pathway of Fibrin Clot Formation	TAS
R-HSA-140877	Formation of Fibrin Clot (Clotting Cascade)	TAS
R-HSA-168256	Immune System	TAS
R-HSA-449147	Signaling by Interleukins	TAS
R-HSA-6785807	Interleukin-4 and Interleukin-13 signaling	TAS
R-HSA-76002	Platelet activation, signaling and aggregation	TAS
R-HSA-76005	Response to elevated platelet cytosolic Ca2+	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015058	1-Naphthylisothiocyanate	F13A1 protein affects the susceptibility to 1-Naphthylisothiocyanate	26921287
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in increased expression of F13A1 mRNA	27291303
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of F13A1 mRNA	27188386
C496492	abrine	abrine results in decreased expression of F13A1 mRNA	31054353
D000082	Acetaminophen	Acetaminophen affects the expression of F13A1 mRNA	17562736
D000111	Acetylcysteine	[indole-3-carbinol co-treated with Diethylnitrosamine co-treated with Acetylcysteine] results in decreased expression of F13A1 mRNA	22129741
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of F13A1 intron	30157460
D000535	Aluminum	[APP protein modified form binds to Aluminum] which results in increased expression of F13A1 mRNA	21298039
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of F13A1 mRNA	16483693
D000661	Amphetamine	Amphetamine results in increased expression of F13A1 mRNA	30779732
D018501	Antirheumatic Agents	Antirheumatic Agents results in decreased expression of F13A1 mRNA	24449571
D000077237	Arsenic Trioxide	Arsenic Trioxide results in increased expression of F13A1 mRNA	20458559
D001397	Azoxymethane	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of F13A1 mRNA	29950665
C487081	belinostat	belinostat results in increased expression of F13A1 mRNA	27188386
D001554	Benzene	Benzene results in decreased expression of F13A1 mRNA	19162166
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in increased expression of F13A1 mRNA	26377693
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of F13A1 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of F13A1 mRNA	25181051; 30816183;
C006780	bisphenol A	bisphenol A results in increased methylation of F13A1 gene	28505145
C000611646	bisphenol F	bisphenol F results in increased expression of F13A1 mRNA	30951980
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of F13A1 mRNA	17582521
D002117	Calcitriol	Calcitriol results in decreased expression of F13A1 mRNA	26485663
D002251	Carbon Tetrachloride	[Carbon Tetrachloride co-treated with Ethanol] results in increased expression of F13A1 mRNA	30517762
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of F13A1 mRNA	27339419
C017114	carfentanil	carfentanil results in increased expression of F13A1 protein	30321427
D002737	Chloroprene	Chloroprene results in increased expression of F13A1 mRNA	23125180
C031180	chrysene	chrysene results in increased expression of F13A1 mRNA	26377693
D003033	Coal Tar	Coal Tar results in increased expression of F13A1 mRNA	27858113
D003300	Copper	Copper results in decreased expression of F13A1 mRNA	30556269
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in increased expression of F13A1 mRNA	23640034
D016264	Dextran Sulfate	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of F13A1 mRNA	29950665
D004008	Diclofenac	Diclofenac results in increased expression of F13A1 mRNA	26934552
D004041	Dietary Fats	Dietary Fats results in decreased expression of F13A1 mRNA	18042831
D004052	Diethylnitrosamine	[indole-3-carbinol co-treated with Diethylnitrosamine co-treated with Acetylcysteine] results in decreased expression of F13A1 mRNA	22129741
D004137	Dinitrochlorobenzene	Dinitrochlorobenzene results in decreased expression of F13A1 mRNA	17374397
D004237	Diuron	Diuron results in decreased expression of F13A1 mRNA	25152437
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of F13A1 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of F13A1 mRNA	29803840
D004726	Endosulfan	Endosulfan results in decreased expression of F13A1 mRNA	29391264
D004958	Estradiol	Estradiol affects the expression of F13A1 mRNA	14699072
D004958	Estradiol	[Estradiol co-treated with Progesterone] results in decreased expression of F13A1 mRNA	20660070
D004958	Estradiol	[Progesterone co-treated with Estradiol] results in decreased expression of F13A1 mRNA	17404688
D004958	Estradiol	Estradiol results in increased expression of F13A1 mRNA	19484750
D000431	Ethanol	[Carbon Tetrachloride co-treated with Ethanol] results in increased expression of F13A1 mRNA	30517762
D005054	Eugenol	Eugenol results in decreased expression of F13A1 mRNA	17374397
D017313	Fenretinide	Fenretinide results in decreased expression of F13A1 mRNA	28973697
D005620	Freund's Adjuvant	Freund's Adjuvant results in decreased expression of F13A1 mRNA	20846436
D006108	Graphite	Graphite affects the expression of F13A1 mRNA	29933104
C545476	incobotulinumtoxinA	incobotulinumtoxinA results in decreased expression of F13A1 mRNA	29522793
C016517	indole-3-carbinol	[indole-3-carbinol co-treated with Diethylnitrosamine co-treated with Acetylcysteine] results in decreased expression of F13A1 mRNA	22129741
D007460	Iodoacetamide	Iodoacetamide results in decreased activity of F13A1 protein	15618543
D007501	Iron	Iron deficiency results in decreased expression of F13A1 mRNA	20368581
D007545	Isoproterenol	Isoproterenol results in increased expression of F13A1 mRNA	20003209
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of F13A1 mRNA	26752646
C008261	lead acetate	lead acetate results in increased expression of F13A1 mRNA	27562236
C018091	maduramicin	maduramicin results in decreased expression of F13A1 mRNA	29128925
D058185	Magnetite Nanoparticles	[Succimer co-treated with Magnetite Nanoparticles] results in decreased expression of F13A1 mRNA	26378955
D017258	Medroxyprogesterone Acetate	Medroxyprogesterone Acetate results in increased expression of F13A1 mRNA	20843944
D015122	Mercaptopurine	Mercaptopurine results in increased expression of F13A1 mRNA	23358152
D008727	Methotrexate	Methotrexate results in decreased expression of F13A1 mRNA	24449571
D015735	Mifepristone	Mifepristone results in increased expression of F13A1 mRNA	17584828
C523799	MRK 003	F13A1 results in increased susceptibility to MRK 003	19903844
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of F13A1 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of F13A1 mRNA	25554681; 25620056;
C029938	nickel sulfate	nickel sulfate results in decreased expression of F13A1 mRNA	16780908; 17374397;
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in decreased methylation of F13A1 promoter	26251327
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of F13A1 mRNA	26251327
D010081	Oxazolone	Oxazolone results in decreased expression of F13A1 mRNA	17374397
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of F13A1 mRNA	30529165
D017239	Paclitaxel	Paclitaxel results in increased expression of F13A1 mRNA	18754875
D000073878	Palm Oil	Palm Oil results in decreased expression of F13A1 mRNA	18042831
C086401	pentabromodiphenyl ether	pentabromodiphenyl ether results in increased expression of F13A1 mRNA	26705709
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of F13A1 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of F13A1 mRNA	26272509
D017035	Pravastatin	Pravastatin results in decreased expression of F13A1 mRNA	27225895
D011374	Progesterone	Progesterone results in decreased expression of F13A1 mRNA	23012394
D011374	Progesterone	[Estradiol co-treated with Progesterone] results in decreased expression of F13A1 mRNA	20660070
D011374	Progesterone	[Progesterone co-treated with Estradiol] results in decreased expression of F13A1 mRNA	17404688
D011374	Progesterone	Progesterone results in decreased expression of F13A1 mRNA	19690047
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride affects the expression of F13A1 mRNA	14699072
D000077185	Resveratrol	Resveratrol results in increased expression of F13A1 mRNA	25280562
D012822	Silicon Dioxide	Silicon Dioxide results in increased expression of F13A1 mRNA	23221170
D053260	Soot	Soot results in decreased expression of F13A1 mRNA	26551751
C075117	squalestatin 1	squalestatin 1 affects the expression of F13A1 mRNA	27225895
D004113	Succimer	[Succimer co-treated with Magnetite Nanoparticles] results in decreased expression of F13A1 mRNA	26378955
C016766	sulforafan	sulforafan results in decreased expression of F13A1 mRNA	26833863
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of F13A1 mRNA	31299295
D013629	Tamoxifen	ESR2 protein affects the reaction [Tamoxifen results in decreased expression of F13A1 mRNA]	14699072
D013629	Tamoxifen	Tamoxifen affects the expression of F13A1 mRNA	14699072
C087114	tebuconazole	tebuconazole results in decreased expression of F13A1 mRNA	30458266
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of F13A1 mRNA	16443690; 17884332; 18495758;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of F13A1 mRNA	17884332
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of F13A1 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of F13A1 mRNA	26232522
C009495	titanium dioxide	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of F13A1 mRNA	29950665
C009495	titanium dioxide	titanium dioxide results in increased expression of F13A1 mRNA	23557971
D014028	Tobacco Smoke Pollution	[APOE gene mutant form affects the susceptibility to Tobacco Smoke Pollution] which results in increased expression of F13A1 mRNA	24096154
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of F13A1 mRNA	20133372
D014212	Tretinoin	Tretinoin results in decreased expression of F13A1 mRNA	23724009
C011559	tributyltin	tributyltin results in increased expression of F13A1 mRNA	21683754
C012589	trichostatin A	trichostatin A results in decreased expression of F13A1 mRNA	15901671
D000077288	Troglitazone	Troglitazone results in increased expression of F13A1 mRNA	28973697
D014414	Tungsten	Tungsten results in decreased expression of F13A1 mRNA	30912803
D014635	Valproic Acid	Valproic Acid results in decreased expression of F13A1 mRNA	15901671
D014635	Valproic Acid	Valproic Acid affects the expression of F13A1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of F13A1 protein	12859294
D014635	Valproic Acid	Valproic Acid results in increased expression of F13A1 mRNA	23179753
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of F13A1 gene	25560391
D014807	Vitamin D	Vitamin D affects the expression of F13A1 mRNA	20368581
D000077337	Vorinostat	Vorinostat results in increased expression of F13A1 mRNA	27188386

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0007	Acetylation
KW-0012	Acyltransferase
KW-0094	Blood coagulation
KW-0106	Calcium
KW-0963	Cytoplasm
KW-0903	Direct protein sequencing
KW-0225	Disease mutation
KW-0325	Glycoprotein
KW-0356	Hemostasis
KW-0479	Metal-binding
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0964	Secreted
KW-0808	Transferase
KW-0865	Zymogen

Interpro

InterPro ID	InterPro Term
IPR034810	Factor_XIII_A
IPR013783	Ig-like_fold
IPR014756	Ig_E-set
IPR038765	Papain-like_cys_pep_sf
IPR002931	Transglutaminase-like
IPR036985	Transglutaminase-like_sf
IPR023608	Transglutaminase_animal
IPR013808	Transglutaminase_AS
IPR008958	Transglutaminase_C
IPR036238	Transglutaminase_C_sf
IPR001102	Transglutaminase_N

PROSITE

PROSITE ID	PROSITE Term
PS00547	TRANSGLUTAMINASES

Pfam

Pfam ID	Pfam Term
PF00927	Transglut_C
PF01841	Transglut_core
PF00868	Transglut_N

Gene: F13A1

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