F7 coagulation factor VII

Canonical transcript: NM_000131

186 unique variant annotations were identified in 265 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
13-113760102-G-A c.-54G>A - 5-UTRSNV 1/9 - 7
13-113760108-C-A c.-48C>A - 5-UTRSNV 1/9 - 6
13-113760126-A-C c.-30A>C - 5-UTRSNV 1/9 - 1
13-113760173-C-A c.18C>A p.Leu6Leu Synonymous 1/9 - 1
13-113760173-C-G c.18C>G p.Leu6Leu Synonymous 1/9 - 1
13-113760173-C-T c.18C>T p.Leu6Leu Synonymous 1/9 - 1
13-113760183-T-A c.28T>A p.Cys10Ser Missense 1/9 - 2
13-113760183-TG-GC c.28_29delinsGC p.Cys10Ala Missense 1/9 - 7
13-113760184-G-C c.29G>C p.Cys10Ser Missense 1/9 - 2
13-113760192-CT-GC c.37_38delinsGC p.Leu13Ala Missense 1/9 - 1
13-113760195-GGG-AGC c.40_42delinsAGC p.Gly14Ser Missense 1/9 - 1
13-113760205-GC-AG c.50_51delinsAG p.Gly17Glu Missense 1/9 - 1
13-113760207-TG-GC c.52_53delinsGC p.Cys18Ala Missense 1/9 - 4
13-113760210-CT-GA c.55_56delinsGA p.Leu19Glu Missense 1/9 - 1
13-113760213-G-A c.58G>A p.Ala20Thr Missense 1/9 - 1
13-113760213-GC-CG c.58_59delinsCG p.Ala20Arg Missense 1/9 - 1
13-113760213-GC-CT c.58_59delinsCT p.Ala20Leu Missense 1/9 - 1
13-113760216-G-A c.61G>A p.Ala21Thr Missense 1/9 - 1
13-113760219-G-T c.64G>T p.Gly22Cys Missense 1/9 - 1
13-113760227-C-T c.64+8C>T - IntronicSNV - 1/8 1
13-113760228-G-A c.64+9G>A - IntronicSNV - 1/8 6
13-113760415-G-A c.64+196G>A - IntronicSNV - 1/8 7
13-113760415-G-C c.64+196G>C - IntronicSNV - 1/8 6
13-113760524-G-A c.64+305G>A - IntronicSNV - 1/8 2
13-113760524-G-T c.64+305G>T - IntronicSNV - 1/8 1
13-113761164-GT-CG c.70_71delinsCG p.Val24Arg Missense 2/9 - 1
13-113761167-G-A c.73G>A p.Ala25Thr Missense 2/9 - 1
13-113761170-AAG-GAC c.76_78delinsGAC p.Lys26Asp Missense 2/9 - 1
13-113761191-CG-TA c.97_98delinsTA p.Arg33* Nonsense 2/9 - 1
13-113761194-G-A c.100G>A p.Asp34Asn Missense 2/9 - 1
13-113761194-G-T c.100G>T p.Asp34Tyr Missense 2/9 - 1
13-113761197-AT-GC c.103_104delinsGC p.Met35Ala Missense 2/9 - 1
13-113761203-TG-GC c.109_110delinsGC p.Trp37Ala Missense 2/9 - 1
13-113761210-C-A c.116C>A p.Pro39Gln Missense 2/9 - 1
13-113761218-C-A c.124C>A p.His42Asn Missense 2/9 - 1
13-113761218-CA-GC c.124_125delinsGC p.His42Ala Missense 2/9 - 13
13-113761218-CA-TG c.124_125inv p.His42Cys Missense 2/9 - 8
13-113761218-C-G c.124C>G p.His42Asp Missense 2/9 - 1
13-113763926-G-T c.131-1078G>T - IntronicSNV - 2/8 7
13-113764610-T-C c.131-394T>C - IntronicSNV - 2/8 3
13-113765012-AC-GA c.139_140delinsGA p.Thr47Asp Missense 3/9 - 17
13-113765024-GC-TT c.151_152delinsTT p.Ala51Phe Missense 3/9 - 1
13-113765027-CA-GC c.154_155delinsGC p.His52Ala Missense 3/9 - 3
13-113765039-CA-GC c.166_167delinsGC p.His56Ala Missense 3/9 - 3
13-113765042-CG-AA c.169_170delinsAA p.Arg57Lys Missense 3/9 - 1
13-113765048-CGG-TGT c.175_177delinsTGT p.Arg59Cys Missense 3/9 - 1
13-113765048-C-T c.175C>T p.Arg59Trp Missense 3/9 - 1
13-113765082-C-G c.209C>G p.Pro70Arg Missense 3/9 - 1
13-113765093-G-A c.220G>A p.Glu74Lys Missense 3/9 - 1
13-113765096-AG-GC c.223_224delinsGC p.Arg75Ala Missense 3/9 - 1
13-113765111-GAG-ATC c.238_240delinsATC p.Glu80Ile Missense 3/9 - 3
13-113765117-TG-GT c.244_245delinsGT p.Cys82Val Missense 3/9 - 1
13-113765118-G-C c.245G>C p.Cys82Ser Missense 3/9 - 3
13-113765133-CC-AG c.260_261delinsAG p.Ala87Glu Missense 3/9 - 1
13-113765135-CGG-AGC c.262_264delinsAGC p.Arg88Ser Missense 3/9 - 1
13-113765138-G-C c.265G>C p.Glu89Gln Missense 3/9 - 1
13-113765156-G-A c.283G>A p.Glu95Lys Missense 3/9 - 1
13-113765156-GA-AG c.283_284delinsAG p.Glu95Arg Missense 3/9 - 1
13-113765158-G-C c.285G>C p.Glu95Asp Missense 3/9 - 1
13-113765158-G-T c.285G>T p.Glu95Asp Missense 3/9 - 1
13-113765165-G-A c.291+1G>A - IntronicSNV - 3/8 1
13-113765166-T-C c.291+2T>C - IntronicSNV - 3/8 1
13-113765235-G-A c.291+71G>A - IntronicSNV - 3/8 1
13-113766010-C-T c.291+846C>T - IntronicSNV - 3/8 1
13-113767394-A-G c.292-672A>G - IntronicSNV - 3/8 1
13-113767394-A-T c.292-672A>T - IntronicSNV - 3/8 1
13-113768078-AT-GC c.304_305delinsGC p.Ile102Ala Missense 4/9 - 1
13-113768166-GA-TG c.322_323delinsTG p.Asp108Cys Missense 5/9 - 1
13-113768172-TGT-GAG c.328_330delinsGAG p.Cys110Glu Missense 5/9 - 1
13-113768179-C-A c.335C>A p.Ser112* Nonsense 5/9 - 1
13-113768179-C-G c.335C>G p.Ser112* Nonsense 5/9 - 1
13-113768211-G-T c.367G>T p.Asp123Tyr Missense 5/9 - 1
13-113768240-C-A c.396C>A p.Cys132* Nonsense 5/9 - 1
13-113768260-G-A c.416G>A p.Arg139Gln Missense 5/9 - 1
13-113768275-G-A c.430+1G>A - IntronicSNV - 5/8 2
13-113769226-A-C c.431-748A>C - IntronicSNV - 5/8 2
13-113769346-G-A c.431-628G>A - IntronicSNV - 5/8 3
13-113769346-G-C c.431-628G>C - IntronicSNV - 5/8 3
13-113769639-T-G c.431-335T>G - IntronicSNV - 5/8 6
13-113769917-G-A c.431-57G>A - IntronicSNV - 5/8 3
13-113769967-T-G c.431-7T>G - IntronicSNV - 5/8 1
13-113769998-T-C c.455T>C p.Val152Ala Missense 6/9 - 1
13-113770004-A-C c.461A>C p.Glu154Ala Missense 6/9 - 1
13-113770015-T-C c.472T>C p.Cys158Arg Missense 6/9 - 1
13-113770022-A-G c.479A>G p.Gln160Arg Missense 6/9 - 2
13-113770052-G-A c.509G>A p.Arg170His Missense 6/9 - 1
13-113770068-C-A c.525C>A p.His175Gln Missense 6/9 - 7
13-113770068-C-T c.525C>T p.His175His Synonymous 6/9 - 7
13-113770072-G-A c.529G>A p.Gly177Arg Missense 6/9 - 1
13-113770072-G-C c.529G>C p.Gly177Arg Missense 6/9 - 1
13-113770192-G-A c.571+78G>A - IntronicSNV - 6/8 1
13-113770688-C-G c.572-392C>G - IntronicSNV - 6/8 1
13-113770876-G-A c.572-204G>A - IntronicSNV - 6/8 20
13-113771090-A-C c.582A>C p.Pro194Pro Synonymous 7/9 - 1
13-113771090-A-G c.582A>G p.Pro194Pro Synonymous 7/9 - 1
13-113771090-A-T c.582A>T p.Pro194Pro Synonymous 7/9 - 1
13-113771118-AGA-CAT c.610_612delinsCAT p.Arg204His Missense 7/9 - 1
13-113771122-A-AA c.614dup p.Asn205Lysfs*76 Frameshift 7/9 - 1
13-113771131-A-G c.623A>G p.Lys208Arg Missense 7/9 - 1
13-113771143-G-A c.635G>A p.Arg212Gln Missense 7/9 - 2
13-113771143-GA-AT c.635_636delinsAT p.Arg212His Missense 7/9 - 1
13-113771149-T-G c.641T>G p.Val214Gly Missense 7/9 - 1
13-113771166-C-T c.658C>T p.Pro220Ser Missense 7/9 - 1
13-113771174-G-A c.666G>A p.Gly222Gly Synonymous 7/9 - 1
13-113771174-G-C c.666G>C p.Gly222Gly Synonymous 7/9 - 1
13-113771174-G-T c.666G>T p.Gly222Gly Synonymous 7/9 - 1
13-113771190-G-T c.681+1G>T - IntronicSNV - 7/8 2
13-113771321-G-T c.681+132G>T - IntronicSNV - 7/8 1
13-113771792-TG-T c.687del p.Leu230Cysfs*3 Frameshift 8/9 - 1
13-113771860-CC-AG c.755_756delinsAG p.Ala252Glu Missense 8/9 - 1
13-113771860-C-G c.755C>G p.Ala252Gly Missense 8/9 - 2
13-113771890-G-A c.785G>A p.Arg262Lys Missense 8/9 - 1
13-113771896-T-G c.791T>G p.Leu264Arg Missense 8/9 - 2
13-113771908-T-G c.803T>G p.Leu268Arg Missense 8/9 - 1
13-113771911-G-A c.805+1G>A - IntronicSNV - 8/8 1
13-113772398-G-A c.806-329G>A - IntronicSNV - 8/8 1
13-113772707-G-A c.806-20G>A - IntronicSNV - 8/8 11
13-113772717-T-C c.806-10T>C - IntronicSNV - 8/8 1
13-113772766-GC-AG c.845_846delinsAG p.Ser282Lys Missense 9/9 - 1
13-113772765-A-C c.844A>C p.Ser282Arg Missense 9/9 - 2
13-113772767-C-A c.846C>A p.Ser282Arg Missense 9/9 - 2
13-113772767-C-G c.846C>G p.Ser282Arg Missense 9/9 - 2
13-113772780-C-T c.859C>T p.Gln287* Nonsense 9/9 - 1
13-113772789-CATC-C c.868_870del p.Ile290del InFrameDeletion 9/9 - 1
13-113772820-A-G c.899A>G p.Asn300Ser Missense 9/9 - 2
13-113772825-G-A c.904G>A p.Asp302Asn Missense 9/9 - 1
13-113772832-C-T c.911C>T p.Ala304Val Missense 9/9 - 1
13-113772841-G-A c.920G>A p.Arg307His Missense 9/9 - 1
13-113772864-A-G c.943A>G p.Thr315Ala Missense 9/9 - 1
13-113772866-CTGAC-C c.945_948del p.Asp316Metfs*49 Frameshift 9/9 - 1
13-113772889-T-G c.968T>G p.Leu323Arg Missense 9/9 - 1
13-113772904-T-A c.983T>A p.Phe328Tyr Missense 9/9 - 1
13-113772904-T-C c.983T>C p.Phe328Ser Missense 9/9 - 2
13-113772909-GA-TC c.988_989inv p.Glu330Ser Missense 9/9 - 1
13-113772928-T-A c.1007T>A p.Val336Glu Missense 9/9 - 1
13-113772930-C-T c.1009C>T p.Arg337Cys Missense 9/9 - 1
13-113772931-G-T c.1010G>T p.Arg337Leu Missense 9/9 - 1
13-113772942-G-C c.1021G>C p.Val341Leu Missense 9/9 - 1
13-113772945-AG-GC c.1024_1025delinsGC p.Ser342Ala Missense 9/9 - 1
13-113772951-T-A c.1030T>A p.Trp344Arg Missense 9/9 - 1
13-113772951-T-C c.1030T>C p.Trp344Arg Missense 9/9 - 1
13-113772982-C-T c.1061C>T p.Ala354Val Missense 9/9 - 3
13-113772990-CT-GC c.1069_1070delinsGC p.Leu357Ala Missense 9/9 - 1
13-113773011-C-T c.1090C>T p.Arg364Trp Missense 9/9 - 1
13-113773012-G-A c.1091G>A p.Arg364Gln Missense 9/9 - 2
13-113773022-C-G c.1101C>G p.Thr367Thr Synonymous 9/9 - 1
13-113773030-G-T c.1109G>T p.Cys370Phe Missense 9/9 - 1
13-113773047-A-T c.1126A>T p.Lys376* Nonsense 9/9 - 5
13-113773060-C-G c.1139C>G p.Ser380Cys Missense 9/9 - 1
13-113773086-T-G c.1165T>G p.Cys389Gly Missense 9/9 - 1
13-113773092-G-A c.1171G>A p.Gly391Ser Missense 9/9 - 1
13-113773113-GAC-ATG c.1192_1194delinsATG p.Asp398Met Missense 9/9 - 1
13-113773120-G-C c.1199G>C p.Cys400Ser Missense 9/9 - 2
13-113773131-AG-GC c.1210_1211delinsGC p.Ser404Ala Missense 9/9 - 1
13-113773131-AGT-TGA c.1210_1212delinsTGA p.Ser404* Nonsense 9/9 - 1
13-113773144-A-G c.1223A>G p.His408Arg Missense 9/9 - 1
13-113773145-T-A c.1224T>A p.His408Gln Missense 9/9 - 1
13-113773145-T-G c.1224T>G p.His408Gln Missense 9/9 - 1
13-113773149-AC-TG c.1228_1229delinsTG p.Thr410Cys Missense 9/9 - 1
13-113773159-G-A c.1238G>A p.Arg413Gln Missense 9/9 - 70
13-113773159-G-C c.1238G>C p.Arg413Pro Missense 9/9 - 66
13-113773159-G-T c.1238G>T p.Arg413Leu Missense 9/9 - 65
13-113773165-CG-AC c.1244_1245delinsAC p.Thr415Asn Missense 9/9 - 1
13-113773172-C-CATGA c.1251_1252insATGA p.Leu418Metfs*109 Frameshift 9/9 - 1
13-113773180-G-T c.1259G>T p.Gly420Val Missense 9/9 - 1
13-113773186-T-C c.1265T>C p.Val422Ala Missense 9/9 - 1
13-113773192-G-A c.1271G>A p.Trp424* Nonsense 9/9 - 4
13-113773193-G-A c.1272G>A p.Trp424* Nonsense 9/9 - 4
13-113773193-G-C c.1272G>C p.Trp424Cys Missense 9/9 - 2
13-113773202-C-G c.1281C>G p.Gly427Gly Synonymous 9/9 - 1
13-113773210-C-T c.1289C>T p.Thr430Ile Missense 9/9 - 1
13-113773229-G-A c.1308G>A p.Val436Val Synonymous 9/9 - 1
13-113773245-C-T c.1324C>T p.Gln442* Nonsense 9/9 - 1
13-113773254-G-A c.1333G>A p.Glu445Lys Missense 9/9 - 2
13-113773299-CT-GC c.1378_1379delinsGC p.Leu460Ala Missense 9/9 - 1
13-113773305-CGA-TGG c.1384_1386delinsTGG p.Arg462Trp Missense 9/9 - 1
13-113773305-CG-GC c.1384_1385delinsGC p.Arg462Ala Missense 9/9 - 1
13-113773305-C-T c.1384C>T p.Arg462* Nonsense 9/9 - 2
13-113773306-G-A c.1385G>A p.Arg462Gln Missense 9/9 - 1
13-113773308-GCC-TAA c.1387_1389delinsTAA p.Ala463* Nonsense 9/9 - 1
13-113773311-CC-TA c.1390_1391delinsTA p.Pro464* Nonsense 9/9 - 1
13-113773312-CC-C c.1391del p.Pro464Hisfs*32 Frameshift 9/9 - 2
13-113773315-TT-AA c.1394_1395inv p.Phe465* Nonsense 9/9 - 1
13-113773478-G-A c.*156G>A - 3-UTRSNV 9/9 - 1
13-113774092-G-A c.*770G>A - 3-UTRSNV 9/9 - 6
13-113774597-A-G c.*1275A>G - 3-UTRSNV 9/9 - 1