Japan Thrombosis and Haemostasis Research Consortium : J-THReC (血栓止血研究コンソーシアム)

SERPINC1
PROC
PROS

JTMD

SERPINC1

Misssence/Nonsense

Location	Description at cDNA level	Description at protein level	Reference
Exon 1	c.2T>C	p.Met1Thr	Nagaizumi (2003) Int J Hematol 78, 79
Exon 2	c.127A>T	p.Lys43*	Kinoshita (2005) Clin Biochem 38, 908
	c.143C>A	p.Pro48His	Kurihara (2005) Thromb Res 115, 351
	c.165C>G	p.Tyr55*	小出 (1999) 日本血栓止血学会誌 10(5), 23
	c.166G>T	p.Arg56Cys	Maruyama(2013)Thromb Res 132e118
	c.208C>T	p.Gln70*	池尻(2015)血栓止血学会学術集会P-004
	c.235C>T	p.Arg79Cys	Koide (1984) Proc Natl Acad Sci USA 81, 289
	c.256G>A	p.Ala86Thr	中町 (2006) 臨床血液 47(9), PS-3-71
	c.259A>G	p.Asn87Asp	Kamijima (2017) Int J Hematol, 2017
	c.269T>G	p.Phe90Cys	Tamura (2019) Thromb Res 178,159
	c.272C>T	p.Ala91Val	Kyotani (2007) Am J Hematol 82(2), 702
	c.335C>G	p.Pro112Arg	Maruyama (2013) Thromb Res 132, e118
	c.362T>A	p.Met121Lys	Nagaizumi (2003) Int J Hematol 78, 79
	c.374G>A	p.Gly125Asp	奥村（2006）臨床血液 47(9), PS-3-70
	c.377C>T	p.Ala126Val	Ozawa (1998) Semin Thromb Hemost 24, 233
	c.379T>C	p.Cys127Arg	Ozawa (1997) Thromb Haemost 77, 403
	c.394C>T	p.Gln132*	Nakahara (1999) Blood Coagul Fibrinolysis 10, 229
Exon 3	c.409G>T	p.Val137Leu	今井 (2021) 日本血栓止血学会誌31(2) O-054
	c.433G>T	p.Glu145*	Yamada (2000) Am J Med Genet 91, 348
	c.438A>T	p.Lys146Asn	Yamada (2000) Am J Med Genet 91, 348
	c.442T>C	p.Ser148Pro	Okajima (1993) Blood 81, 1300
	c.480C>G	p.Cys160Trp	Miyata (2009) Thromb Res 214, 14
	c.481C>T	p.Arg161*	Ozawa (1998) Semin Thromb Hemost 24, 233
	c.490C>T	p.Arg164*	Nagaizumi (2003) Int J Hematol 78, 79
	c.515T>A	p.Leu172*	Tomonari (1992) Thromb Haemost 68, 455
	c.533T>A	p.Leu178His	Nagaizumi (2003) Int J Hematol 78, 79
	c.571C>T	p.Gln191*	Nagaizumi (2003) Int J Hematol 78, 79
Exon 4	c.652A>T	p.Ile218Phe	Tamura (2019) Thromb Res 178,159
	c.663G>A	p.Trp221*	Tamura (2019) Thromb Res 178,159
	c.677C>T	p.Thr226Ile	樋口 (2000) 臨床血液 41(10), 489
	c.685C>T	p.Arg229*	Tomonari (1992) Thromb Haemost 68, 455
	c.701T>C	p.Ile234Thr	根木 (2019) 日本血栓止血学会学術集会 P-039
	c.721G>T	p.Val241Leu	村上 (2018) 日本検査血液学会雑誌 P-6
	c.728C>T	p.The243Ile	奥村（2006）臨床血液 47(9), PS-3-70
	c.737T>A	p.Val246Glu	Miyata (2009) Thromb Res 124, 14
	c.762G>C	p.Lys254Asn	Miyata (2009) Thromb Res 124, 14
Exon 5	c.769T>C	p.Trp257Arg	Lane (1997) Thromb Haemost 77, 197
	c.813C>G	p.Phe271Leu	Miyata (2009) Thromb Res 124, 14
	c.842C>A	p.Ala281Glu	中町 (2006) 臨床血液 47(9), PS-3-71
	c.875A>G	p.Tyr292Cys	Ikeda (2019) Blood Coagul Fibrinolysis 30(1), 47
	c.876T>A	p.Tyr292*	Nakahara (1997) Thromb Haemost 77, 616
	c.880C>T	p.Arg294Cys	Miyata (2009) Thromb Res 214, 14
	c.905T>C	p.Leu302Pro	Sekiya (2017) Int J Hematol 105(3), 287
	c.1012G>T	p.Glu338*	Niiya (2001) Int J Hematol 74, 469
	c.1043G>A	p.Arg348Gln	村上 (2018) 日本検査血液学会雑誌 P-6
	c.1055T>G	p.Met352Arg	Miura (2004) Pediatr Nephrol 19, 1294
Exon 6	c.1171C>T	p.Arg391*	Nagaizumi (2003) Int J Hematol 78, 79
	c.1190C>G	p.Ser397*	Takenaga (2001) Thromb Haemost 85, 570
	c.1199T>C	p.Phe400Ser	Miyata (2009) Thromb Res 124, 14
Exon 7	c.1240G>C	p.Ala416Pro	奥村（2006）臨床血液 47(9), PS-3-70
	c.1273C>T	p.Arg425Cys	Okajima (1995) Am J Hematol 48, 12
	c.1274G>A	p.Arg425His	Nagaizumi (2003) Int J Hematol 78, 79
	c.1286C>T	p.Pro429Leu	Ikejiri (2012) Int J Hematol 95, 257
	c.1277C>T	p.Ser426Leu	Miyata (2009) Thromb Res 124, 14
	c.1313G>T	p.Arg438Met	Tsuji (1991) Thromb Res 65, 913A
	c.1315C>A	p.Pro439Thr	Fujimori (2008) Intern Med 47, 925
	c.1319C>T	p.Phe440Ser	Ichiyama(2016)Pediatric Res 79, 81
	c.1322T>C	p.Leu441Pro	Nagaizumi (2003) Int J Hematol 78, 79
	c.1370G>C	p.Arg457Thr	原田 unpublished
	c.1376C>A	p.Ala459Asp	Maruyama(2013)Thromb Res 132e118
	c.1382C>T	p.Pro461Leu	Shindo(2014)Int J Hematol 99,437
	c.1384T>C	p.Cys462Arg	浦田 (2001) 日本血栓止血学会誌 12(5), 86

Splicing

Location	Description at cDNA level	Description at protein level	Reference
Intron 1	c.41+1G>A	-	Sekiya (2017) Int J Hematol 105(3), 287
Intron 2	c.409-1G>A	-	Sekiya (2017) Int J Hematol 105(3), 287
Intron 3	c.624+1dupG	p.Glu209Glyfs17*	Tamura (2019) Thromb Res 178,159
Intron 5	c.1154-14G>A	p.Pro384_Gly385insValPheLeuPro	Sekiya (2017) Int J Hematol 105(3), 287
Intron 5	c.1154-1G>C	-	Miyata (2009) Thromb Res 124, 14

Regulatory

Location	Description at cDNA level	Description at protein level	Reference
promoter	c.-4G>A	-	Katayama (2005) Thromb Res 116, 215

Small Deletions

Location	Description at cDNA level	Description at protein level	Reference
Exon 1	c.21-22delAA	p.Gly6Glyfs*57	Sekiya A (2011) Int J Hematol 10,1007
Exon 2	c.49delT	p.Tyr17Ilefs*14	Kyotani (2007) Am J Hematol 82(2), 702
	c.112delG	p.Asp38Thrfs*12	Sekiya (2017) Int J Hematol 105(3), 287
	c.125delC	p.Lys43Serfs*7	今井 (2020) 日本検査血液学会誌 O2-26-1
	c.181_183delGAA	p.Lys61del	Neki(2014)Thromb Res 133, 914
	c.208_212delGAGAA	p.Gln70Aspfs*33	根木(2017)日本血栓止血学会学術集会P−024
	c.280_283delTTCT	p.Phe94Ilefs*19	Ozawa (1997) Thromb Res 85, 515
	c.403_405delATG	p.Met135del	Katayama (2005) Thromb Res 116, 215
Exon 3	c.454_462delCACTTCTTC	p.His152_Phe154del	Niiya (2001) Int J Hematol 74 469
	c.462_464delCTT	p.Phe154del	Ozawa (1998) Semin Thromb Hemost 24, 233
	c.569delA	p.Tyr190Serfs*94	Mori (2017) Blood Coagul Fibrinolysis 28(2), 189
	c.613delC	p.Leu205Trpfs*79	今井 (2019) 日本血栓止血学会学術集会 O-033
Exon 4	c.682delC	p.Leu205Trpfs*56	Sekiya (2017) Int J Hematol 105(3), 287
Exon 5	c.823delG	p.Asp275Metfs*9	Ikejiri (2017) Int J Hematol 105, 272
	c.1026delA	p.Glu342Aspfs*5	Nakahara (1997) Thromb haemost 77, 616
	c.1069delA	p.Ile357Leufs*7	Sekiya (2017) Int J Hematol 105(3), 287
Exon 6	c.1184_1185delAT	p.Tyr395Cysfs*7	Nakahara (1997) Thromb haemost 77, 616
Exon 7	c.1237_1239delGAA	p.Glu413del	Tsuda (1999) Ann Clin Biochem 36, 423
Exon 7	c.1331_1337delTAAGAGA	p.Ile444Lysfs*4	Sekiya (2017) Int J Hematol 105(3), 287

Small Insertions

Location	Description at cDNA level	Description at protein level	Reference
Exon 2	c.56_59dupCTTT	p.Leu19Serfs*47	Tsukahara (2002) Rinsho Shinkeigaku 42, 207
Exon 2	c.116dupA	p.Ile39Asnfs*26	Nakahara (1999) Blood Coagul Fibrinolysis 10, 229
Intron 3	c.624+1dupG	p.Glu209Glyfs*17	Tamura (2019) Thromb Res 178,159
Exon 3	c.607_608insG	p.Gln203Argfs*50	今井(2021) 日本血栓止血学会学術集会 O-007
Exon 5	c.767dupT	p.Leu256Leufs*9	Muta (2005) Eur J Haematol 75, 167
Exon 5	c.907dupG	p.Glu303Glyfs*7	Tamura (2019) Thromb Res 178,159

Gross Deletion

Location	Description at cDNA level	Description at protein level	Reference
Exon 1	Exon 1 del (MLPA)		Ikejiri (2017) Int J Hematol 105, 272
Exon 3-5	c.408+(523_534)_1153+(437_448)del		Tamura (2019) Thromb Res 178,159
Exon 5	c.881+(409_436)_1273-(741-714)del	p.Gly225Valfs*23	Tamura (2019) Thromb Res 178,159
Exon 6-7	-		山之内 (2016) 血栓止血学会誌 27(2), O-073
Exon 7	NT_004487.20: g.30685920_30721022delinsTGGAGTA		Tamura (2019) Thromb Res 178,159
entire gene	NT_004487.19: g.25326758_25437835delinsCGGATGG		Kato (2014) Int J Hematol 100(2), 200-5
entire gene	-	-	Sekiya A (2011) Int J Hematol 10, 1007

PROC

Misssence/Nonsense

Location	Description at cDNA level	Description at protein level	Reference
Exon 2	c.2T>C	p.Met1Thr	Zheng (1994) Blood Coagul Fibrinolysis 5, 687
Exon 3	c.20T>G	p.Leu7Arg	大森 (2020) 日本検査血液学会誌 O2-26-2
	c.76G>A	p,Val26Met	Miyata (1998) Thromb Res 92, 181
	c.102C>A	p.His34Glu	Miyata (1998) Thromb Res 92, 181
	c.124C>T	p.Arg42Cys	Kinoshita (2005) Clin Biochem 381, 908
	c.124C>A	p.Arg42Ser	Miyata (1995) Thromb Haemost 74, 1003
	c.142G>A	p.Glu48Lys	Inoue (2017) Pediatr Blood Cancer 64, e26404
	c.169C>G	p.Arg57Gly	Mimuro (1993) Int J Hematol 57, 9
	c.181G>C	p.Glu61Gln	Yamanouchi (2013) Thromb Res 131, 466
	c.199G>A	p.Glu67Lys	水上 (2003) 日本血栓止血学会誌 14(5), O-37
	c.202G>A	p.Glu68Lys	Ido (1993) Thromb Haemost 70, 636
Exon 4	c.262G>T	p.Asp88Tyr	Ishimura (2009) Eur J Pediatr 168, 673
Exon 5	c.373G>C	p.Gly125Arg	Miyata (1996) Thromb Haemost 76, 302
Exon 5	c.400G>T	p.Glu134*	Miyata (1996) Thromb Haemost 76, 302
Exon 6	c.436G>A	p.Gly146Ser	池尻(2015)血栓止血学会学術集会P-004
	c.440G>A	p.Cys147Tyr	Neki (2011) Int J Hematol 94, 150
	c.446A>C	p.His149Pro	Miyata (1998) Thromb Res 92, 181
	c.472C>T	p.Arg158Trp	Grandrille (1995) Blood 86, 2598
	c.509A>G	p.Asp170Gly	Ichiyama(2016)Pediatric Res 79, 81
	c.518T>C	p.Leu173Pro	大森 (2020) 日本検査血液学会誌 O2-26-2
Exon 7	c.541T>G	p.Phe181Val	Miyata (1996) Thromb Haemost 76, 302
	c.554G>T	p.Arg185Met	長谷部 unpublished
	c.555G>T	p.Arg185Ser	Miyata (1998) Thromb Res 92, 181
	c.565C>T	p.Arg189Trp	Kinoshita (2005) Clin Biochem 381, 908
	c.581G>A	p.Arg194His	Miyata (2009) Thromb Res 124, 14
	c.595C>T	p.Arg199*	Nakagawa (1994) Int J Hematol 60, 273
	c.631C>T	p.Arg211Trp	Matsuda (1988) N Engl J Med 319, 1265
Exon 8	c.658C>T	p.Arg220Trp	田中 unpublished
	c.659G>A	p.Arg220Gln	Sugahara (1994) Thromb Haemost 72, 814
	c.691G>A	p.Asp231Asn	槇山 unpublished
	c.721G>T	p.Val241Leu	大森 (2020) 日本検査血液学会誌 O2-26-2
	c.730C>T	p.His244Tyr	Miyata (1998) Thromb Res 92, 181
	c.757A>C	p.His253Asn	Ikejiri (2017) Int J Hematol 105, 272
	c.793C>T	p.Leu265Phe	Roitsma (1991) Blood 78, 890
Exon 9	c.811C>T	p.Arg271Trp	Miyata (2009) Thromb Res 124, 14
	c.875G>A	p.Ser292Asn	飯島(2013) 日本検査血液学会誌 14(2), 229
	c.895G>A	p.Asp299Asn	Souri(2015)日本血栓止血学会誌26(2) O-006, P-005
	c.926C>T	p.Ala309Val	Inoue (2017) Pediatr Blood Cancer 64, e26404
	c.935C>G	p.Ser312Leu	Ikejiri (2017) Int J Hematol 105, 272
	c.970G>A	p.Gly324Ser	Miyata (1996) Thromb Haemost 76, 302
	c.983G>A	p.Arg328His	Miyata (1996) Thromb Haemost 76, 302
	c.988C>A	p.Leu330Ile	山中 (2005) 日本血栓止血学会誌 16(5), P-01
	c.1000G>A	p.Gly334Ser	Yamamoto (1992) J Lab Clin Med 119, 682
	c.1003C>T	p.Gln335*	Inoue (2017) Pediatr Blood Cancer 64, e26404
	c.1015G>A	p.Val339Met	Miyata (1996) Thromb Haemost 76, 302
	c.1019C>T	p.Thr340Met	Miyata (1998) Thromb Res 92, 181
	c.1042C>T	p.Arg348*	Ichiyama(2016)Brain&Dev 38, 253
	c.1043G>A	p.Arg348Gln/td>	石川 (2006) 日本血栓止血学会誌 17(5), P-17
	c.1075G>A	p.Val359Ile	豊島 unpublished
	c.1066C>T	p.Arg356Cys	Neki(2014)Thromb Res 133, 914
	c.1106C>T	p.Pro369Leu	Zheng (1994) Blood Coagul Fibrinolysis 5, 687
	c.1117T>C	p,Cys373Arg	Sugahara (1994) Thromb Haemost 72, 814
	c.1123G>A	p.Glu375Lys	Yamanouchi (2013) Thromb Res 131, 466
	c.1141G>A	p.Val381Met	Inoue (2017) Pediatr Blood Cancer 64, e26404
	c.1148A>G	p.Glu383Gly	Miyata (1998) Thromb Res 92, 181
	c.1163C>T	p.Ala388Val	Ikejiri (2017) Int J Hematol 105, 272
	c.1174G>A	p.Gly392Arg	Zheng (1994) Blood Coagul Fibrinolysis 5, 687
	c.1180C>T	p.Arg394Trp	森下 (2002) 日本血栓止血学会誌 13(5), 117
	c.1201G>A	p.Asp401Asn	Zheng (1994) Blood Coagul Fibrinolysis 5, 687
	c.1203G>A	p.Asp401Asn	Inoue (2017) Pediatr Blood Cancer 64, e26404
	c.1218G>A	p.Met406Ile	Miyata (1994) Thromb Haemost 71, 32
	c.1213C>T	p.Pro405Ser	槇山 unpublished
	c.1220T>C	p.Val407Ala	Yamanouchi (2013) Thromb Res 131, 466
	c.1229T>C	p.Phe410Ser	Miyata (1996) Thromb Haemost 76, 302
	c.1235G>A	p.Arg412His	Ichiyama(2016)Brain&Dev 38, 253
	c.1253G>A	p,Gly418Asp	Sugahara (1992) Blood 80, 126
	c.1266G>C	p.Trp422Cys	Miyata (1996) Thromb Haemost 76, 302
	c.1279G>C	p,Gly427Arg	Miyata (1994) Thromb Haemost 71, 32
	c.1285C>T	p.Leu429Phe	Miyata (1996) Thromb Haemost 76, 302
	c.1297G>A	p.Gly433Ser	Kinoshita (2005) Clin Biochem 381, 908
	c.1309A>G	p.Lys437Glu	村上 (2018) 日本検査血液学会雑誌 P-6
	c.1321T>C	p.Tyr441His	Zheng (1994) Blood Coagul Fibrinolysis 5, 687

Splicing

Location	Description at cDNA level	Description at protein level	References
Intron 2	c.71-4C>T	-	Hayashida (2003) Intern Med 42, 268
Intron 4	c.263-1G>A	-	Miyata (1996) Thromb Haemost 76, 302
Intron 5	c.400+1G>C	-	Miyata (1998) Thromb Res 92, 181

Regulatory

Location	Description at cDNA level	Description at protein level	Reference
Exon 1	c.-43A>C	-	Miyata (1996) Thromb Haemost 76, 302
Exon 1	c.-32G>A	-	Miyata (1996) Thromb Haemost 76, 302

Small Deletions

Location	Description at cDNA level	Description at protein level	Reference
Exon 3	c.164delT	p.Leu55Argfs*6	Ichiyama(2016)Pediatric Res 79, 81
Exon 3	c.164delT	p.Leu55Argfs*6	Ichiyama(2016)Pediatric Res 79, 81
Intron 5	c.400+38_400+61del	p.(Glu134Glyfs*54)	槇山 unpublished
Exon 6	c.458_460delAGG	p.Glu153del	Takahashi (1999) Am J Hematol 62, 260
Exon 6	c.529_533delCCCGC	p.Pro177Serfs*36	Sugahara (1992) Blood 80, 126
Exon 7	c.557_559delAAG	p.Lys193del	Inoue(2017) Pediatr Blood Cancer, 64: e26404
Exon 7	c.577_579delAAG	p.Lys193del	Miyata (1998) Thromb Res 92, 181
Exon 8	c.688_689delCTG	p.Leu230del	Inoue (2017) Pediatr Blood Cancer 64, e26404
Exon 9	c.889_891delGAC	p.Asp297del	Miyata (1996) Thromb Haemost 76, 302
Exon 9	c.1268delG	p.Gly423Valfs*82	Yamamoto (1991) Thromb Haemost 65 646A

Small Insertions

Location	Description at cDNA level	Description at protein level	Reference
Exon 8	c.787dupG	p.Val263Glyfs*7	Miyata (1998) Thromb Res 92, 181

Gross Deletion

Location	Description at cDNA level	Description at protein level	Reference
Exon 7-8	NG_163231.1:g.10332_14357del		池尻 (2019) 日本血栓止血学会学術集会 P-035
entire gene	c.(?_-73)_(*296_?)del	-	Matsuda (1988) N Engl J Med 319, 1265

PROS

Misssence/Nonsense

Location	Description at cDNA level	Description at protein level	References
Exon	c.50T>C	p.Leu17Pro	Ichiyama (2016) Pediatric Res 79, 81
Exon 2	c.148A>G	p.Lys50Glu	Fujimura (1998) Thromb Res 89, 151
	c.200A>C	p.Glu67Ala	山中 (2004) 日本血栓止血学会誌 15(5), P-08
	c.233C>T	p.Thr78Met	井上 (2002) 日本血栓止血学会誌 13(5), 91
Exon 3	c.235G>T	p.Asp79Tyr	Neki (2011) Int J Hematol 94, 150
	c.246T>G	p.Try82*	森下 (2021) 日本血栓止血学会誌31(2) O-008
	c.259G>C	p.Val87Leu	Yamazaki(1997) Thromb Haemost 77, 14
Exon 4	c.268C>T	p.Arg90Cys	一木 (2016) 血栓止血学会誌 27(2), P-018
	c.283G>A	p.Gly95Arg	Tsuda (2002) Thromb Res 105, 233
	c.301C>T	p.Arg101Cys	Miyata (2009) Thromb Res 124, 14
	c.308C>G	p.Ser103*	Okamoto (1996) Thromb Haemost 75, 877
Exon 5	c.362G>A	p.Cys121Tyr	Okada(2004) Br J Haematol 126, 219
Exon 5	c.416C>T	p.Ala139Val	Miyata (2009) Thromb Res 124, 14
Exon 6	c.478G>T	p.Glu160*	Kinoshita (2005) Clin Biochem 38, 908
	c.566G>C	p.Gly189Ala	Ikejiri (2012) Int J Hematol 95, 257
	c.586A>T	p.Lys196*	服部(2017)日本血液学会学術集会 P-PS2-34-4
	c.586A>G	p.Lys196Glu	Yamazaki (1993) Thromb Res 70(5), 395
Exon 7	c.684C>G	p.Cys228Trp	服部(2017)日本血液学会学術集会 P-PS2-34-4
	c.724G>C	p.Glu242Gln	Kinoshita (2005) Clin Biochem 38, 908
	c.727G>A	p.Asp243Asn	Iwaki (2001) Semin Thromb Hemost 27, 155
Exon 8	c.740G>T	p.Cys247Phe	井上 (2002) 日本血栓止血学会誌 13(5), 91
	c.745G>T	p.Glu249*	Okada(2004) Br J Haematol 126, 219
	c.756T>G	p.Cys252Trp	Miyata (2009) Thromb Res 124, 14
	c.767G>T	p.Cys256Phe	池尻(2015)血栓止血学会学術集会P-004
	c.835C>T	p.Gln279*	Iwaki (2001) Semin Thromb Hemost 27, 155
	c.846T>G	p.Cys282Trp	Kinoshita (2005) Clin Biochem 38, 908
Exon 9	c.935A>G	p.Tyr312Cys	村上 (2018) 日本検査血液学会雑誌 P-6
Exon 9	c.946C>T	p.Arg316Cys	Okada (2006) J Thromb Haemost 4, 2003
Exon 10	c.974C>A	p.Arla325Glu	服部(2017)日本血液学会学術集会 P-PS2-34-4
	c.1006G>A	p.Gly336Ser	Fujimura (1998) Thromb Res 89, 151
	c.1016T>C	p.Leu339Pro	Iwaki (2001) Semin Thromb Hemost 27, 155
	c.1024G>T	p.Glu342*	Hayashida (2003) Intern Med 42, 268
	c.1064G>A	p.Arg355His	Okada(2004) Br J Haematol 126, 219
	c.1070G>T	p.Gly357Val	Miyata (2009) Thromb Res 124, 14
	c.1076T>A	p.Ile359Asn	下川 (2010) 日本検査血液学会雑誌 11,S71
	c.1147T>C	p.Trp383Arg	Mizukami (2006) Am J Hematol 81, 787
Exon 11	c.1238T>G	p.Leu413Arg	服部(2017)日本血液学会学術集会 P-PS2-34-4
	c.1247C>A	p.Pro416Gln	Okada (2006) J Thromb Haemost 4, 2003
	c.1297A>T	p.Lys433*	Iwaki (2001) Semin Thromb Hemost 27, 155
Exon 12	c.1334G>A	p.Arg445His	Neki(2014)Thromb Res 133, 914
	c.1337C>T	p.Leu446Pro	Taniguchi (2017) Thromb Res 151, 8
	c.1346G>A	p.Cys449Tyr	池尻(2015)血栓止血学会学術集会P-004
	c.1351C>T	p.Arg451*	Kinoshita (2005) Clin Biochem 38, 908
	c.1352G>A	p.Arg451Gln	Taniguchi (2017) Thromb Res 151, 8
	c.1424G>T	p.Cys475Phe	Taniguchi (2017) Thromb Res 151, 8
	c.1472C>A	p.Ala491Asp	Kinoshita (2005) Clin Biochem 38, 908
	c.1486G>T	p.Asp496Tyr	Okada (2006) J Thromb Haemost 4, 2003
Exon 13	c.1543C>T	p.Arg515Cys	Yamazaki (1996) Blood 87, 4643
Exon 13	c.1574C>T	p.Ala525Val	牧田 (2020) 日本検査血液学会誌 O2-26-4
Exon 14	c.1680T>A	p.Tyr560*	Sanda (2007) ISTH P-T-074
	c.1681C>T	p.Arg561Trp	Kinoshita (2005) Clin Biochem 38, 908
	c.1687C>T	p.Gln563*	Yamazaki (1995) Thromb Haemost 74, 590
	c.1849A>G	p.Thr617Ala	Yamanouchi (2009) Int J Hematol 90, 537
	c.1858G>A	p.Gly620Ser	Kinoshita (2005) Clin Biochem 38, 908
Exon 15	c.1889C>T	p.Thr630Ile	Tsuda (2002) Thromb Res 105, 233
	c.1907A>G	p.Tyr636Cys	Tsuda (2002) Thromb Res 105, 233
	c.2000C>T	p.Pro667Leu	Ikejiri (2017) Int J Hematol 105, 272

Splicing

Location	Description at cDNA level	Description at protein level	References
Intron 1	c.76+2_3delTG	p.(Phe26*)	服部(2017)日本血液学会学術集会 P-PS2-34-4
Intron 1	c.77-1G>C	-	Tatewaki (1999) Thromb Haemost 82, 65
Intron 3	c.259+1G>C	-	Yamazaki (1997) Thromb Haemost 77, 14
Intron 3	c.260-1G>A	-	岡田 (2006) 日本血栓止血学会誌 17(5), P-16
Intron 4	c.347+1G>C	-	Formstone (1995) Blood 86, 2632
Intron 7	c.728-2A>T	-	Mizukami(2006) Am J Hematol 81, 787
Intron 7	c.1155+1G>T	-	槇山 unpublished
Intron 10	c.1155+5G>A	-	服部(2017)日本血液学会学術集会 P-PS2-34-4
Intron 10	c.1492+2T>A	-	Iida (2001) Thromb Res 102, 187
Intron 13	c.1645-2A>G	-	Nakahara (2001) Thromb Res 101, 387
Intron 14	c.1870+1G>A	-	Miyata (2009) Thromb Res 124, 14
	c.1871-1G>A	-	服部(2017)日本血液学会学術集会 P-PS2-34-4
	c.1871-1G>T	-	Yamazaki (1997) Thromb Haemost 77, 14

Regulatory

Location	Description at cDNA level	Description at protein level	Reference
promoter	c.-168C>T	-	Sanda (2007) Br J Haematol 138, 663

Small Deletions

Location	Description at cDNA level	Description at protein level	Reference
Exon 2	c.152_153delAG	p.Gln51Argfs*2	三田 (2006) 日本血栓止血学会誌 17(5), O-46
Exon 8	c.741_745delCTCTG	p.Cys247*	Okada (2004) Br J Haematol 126, 219
Exon 12	c.1346delG	p.Cys449Leufs*7	牧田 (2020) 日本検査血液学会誌 O2-26-4
Exon 14	c.1794delA	p.Asp599Thrfs*13	Taniguchi (2015) Thromb Res 135, 1221
Exon 15	c.2020_2021delAA	p.Lys674Glufs*24	Ichiyama(2016)Pediatric Res 79, 81

Small Insertions

Location	Description at cDNA level	Description at protein level	Reference
Exon 10	c.1101dupT	p.Thr368Tyrfs*9	Miyata (2009) ThrombRes 124, 14
Exon 10	c.1148_1149dupGG	p.Asn384Glyfs*9	Miyata (2009) ThrombRes 124, 14
Exon 12	c.1355dupG	p.Ser452Argfs*22	三田 (2006) 日本血栓止血学会誌 17(5), O-46

Small Delins

Location	Description at cDNA level	Description at protein level	Reference
Exon 2	c.111delinsGG	p.Arg38Glufs*10	服部(2017)日本血液学会学術集会 P-PS2-34-4

Gross Deletion

Location	Description at cDNA level	Description at protein level	Reference
Entire gene	-	-	Yin (2007) Thromb Haemost 98, 783