| SI.No | Mutation change | Expt Name | PubMed | ||
| 1 | Deletion | Genomic: g.18965_18966delAG CDS: c.701_702delAG AnimoAcid: p.Ser235PhefsX5 |
Deletion | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 2 | Duplications | Genomic: g.13754dupA CDS: c.443dupA AnimoAcid: p.Asn149LysfsX2 |
Duplications | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 3 | Deletion | Genomic: g.26470delG CDS: c.1414delG AnimoAcid: p.Gly472AlafsX30 |
Deletion | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 4 | Deletion | Genomic: g.26405delC CDS: c.1349delC AnimoAcid: p.Phe451LeufsX51 |
Deletion | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 5 | Insertion | Genomic: g.23886_23887insCCTTTCA CDS: c.923_924insCCTTTCA AnimoAcid: p.Glu309LeufsX41 |
Insertion | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 6 | Insertion | Genomic: g.2147insT CDS: c.121insT AnimoAcid: p.Phe40fs |
Insertion | Direct sequencing, PCR based assay |
Ishibashi F et al., 2000 |
| 7 | Substitutions | Genomic: g.3493G>T CDS: c.161G>T AnimoAcid: p.Arg54Met |
Substitutions | Direct sequencing, PCR based assay |
Ishibashi F et al., 2000 |
| 8 | Substitutions | Genomic: g.3496C>A CDS: c.164C>A AnimoAcid: p.Ala55Asp |
Substitutions | Direct sequencing, PCR based assay |
Ishibashi F et al., 2000 |
| 9 | Substitutions | Genomic: g.3502C>A CDS: c.170C>A AnimoAcid: p.Ala57Glu |
Substitutions | Direct sequencing, PCR based assay |
Ishibashi F et al., 2000 |
| 10 | Substitutions | Genomic: g.11977C>T CDS: c.271C>T AnimoAcid: p.Arg91X |
Substitutions | Direct sequencing, PCR based assay |
Ishibashi F et al., 2000 |
| 11 | Substitutions | Genomic: g.12007C>T CDS: c.301C>T AnimoAcid: p.His101Tyr |
Substitutions | Direct sequencing, PCR based assay |
Ishibashi F et al., 2000 |
| 12 | Substitutions | Genomic: g.13699C>T CDS: c.388C>T AnimoAcid: p.Arg130X |
Substitutions | Direct sequencing, PCR based assay |
Ishibashi F et al., 2000 |
| 13 | Substitutions | Genomic: g.13753C>T CDS: c.442C>T AnimoAcid: p.Gln148X |
Substitutions | Direct sequencing, PCR based assay |
Ishibashi F et al., 2000 |
| 14 | Substitutions | Genomic: g.13780C>T CDS: c.469C>T AnimoAcid: p.Arg157X |
Substitutions | Direct sequencing, PCR based assay |
Ishibashi F et al., 2000 |
| 15 | Deletion | Genomic: g.16057delT CDS: c.606delT AnimoAcid: p.Tyr201fs |
Deletion | Direct sequencing, PCR based assay |
Ishibashi F et al., 2000 |
| 16 | Deletion | Genomic: g.16060delA CDS: c.609delT AnimoAcid: p.Glu203fs |
Deletion | Direct sequencing, PCR based assay |
Ishibashi F et al., 2000 |
| 17 | Substitutions | Genomic: g.16077A>G CDS: c.626A>G AnimoAcid: p.His209Arg |
Substitutions | Direct sequencing, PCR based assay |
Ishibashi F et al., 2000 |
| 18 | Substitutions | Genomic: g.16122C>G CDS: c.671C>G AnimoAcid: p.Ala224Gly |
Substitutions | Direct sequencing, PCR based assay |
Ishibashi F et al., 2000 |
| 19 | Substitutions | Genomic: g.18940C>T CDS: c.676C>T AnimoAcid: p.Arg226X |
Substitutions | Direct sequencing, PCR based assay |
Ishibashi F et al., 2000 |
| 20 | Duplications | Genomic: g.18970_18971dupTT CDS: c.706_707dupTT AnimoAcid: p.Leu236PhefsX7 |
Duplications | Direct sequencing, PCR based assay |
Ishibashi F et al., 2000 |
| 21 | Insertion | Genomic: g.19006insA CDS: c.742insA AnimoAcid: p.Lys247fs |
Insertion | Direct sequencing, PCR based assay |
Ishibashi F et al., 2000 |
| 22 | Deletion | Genomic: g.21305delA CDS: c.870delA AnimoAcid: p.Arg290fs |
Deletion | Direct sequencing, PCR based assay |
Ishibashi F et al., 2000 |
| 23 | Substitutions | Genomic: g.23888G>A CDS: c.925G>A AnimoAcid: p.Glu309Lys |
Substitutions | Direct sequencing, PCR based assay |
Ishibashi F et al., 2000 |
| 24 | Substitutions | Genomic: g.23930C>T CDS: c.967C>T AnimoAcid: p.Gln323X |
Substitutions | Direct sequencing, PCR based assay |
Ishibashi F et al., 2000 |
| 25 | Substitutions | Genomic: g.23975C>T CDS: c.1012C>T AnimoAcid: p.His338Tyr |
Substitutions | Direct sequencing, PCR based assay |
Ishibashi F et al., 2000 |
| 26 | Substitutions | Genomic: g.23979C>A CDS: c.1016C>A AnimoAcid: p.Pro339His |
Substitutions | Direct sequencing, PCR based assay |
Ishibashi F et al., 2000 |
| 27 | Substitutions | Genomic: g.23994C>T CDS: c.1031C>T AnimoAcid: p.Ser344Phe |
Substitutions | Direct sequencing, PCR based assay |
Ishibashi F et al., 2000 |
| 28 | Substitutions | Genomic: g.25004G>A CDS: c.1166G>A AnimoAcid: p.Gly389Glu |
Substitutions | Direct sequencing, PCR based assay |
Ishibashi F et al., 2000 |
| 29 | Deletion | Genomic: g.25018_25020delGCC CDS: c.1180_1182delGCC AnimoAcid: p.Thr393fs |
Deletion | Direct sequencing, PCR based assay |
Ishibashi F et al., 2000 |
| 30 | Insertion | Genomic: g.25018_25019ins15 CDS: c.1180_1181ins15 AnimoAcid: p.Ala394fs |
Insertion | Direct sequencing, PCR based assay |
Ishibashi F et al., 2000 |
| 31 | Substitutions | Genomic: g.25097T>C CDS: c.1259T>C AnimoAcid: p.Leu420Pro |
Substitutions | Direct sequencing |
Ishibashi F et al., 2000 |
| 32 | Substitutions | Genomic: g.25147A>T CDS: c.1309A>T AnimoAcid: p.Lys437X |
Substitutions | Direct sequencing |
Ishibashi F et al., 2000 |
| 33 | Substitutions | Genomic: g.26410G>T CDS: c.1354G>T AnimoAcid: p.Glu452X |
Substitutions | Direct sequencing |
Ishibashi F et al., 2000 |
| 34 | Substitutions | Genomic: g.26452C>T CDS: c.1396C>T AnimoAcid: p.Gln466X |
Substitutions | Direct sequencing |
Ishibashi F et al., 2000 |
| 35 | Substitutions | Genomic: g.26484C>A CDS: c.1428C>A AnimoAcid: p.Tyr476X |
Substitutions | Direct sequencing |
Ishibashi F et al., 2000 |
| 36 | Deletion | Genomic: g.26503_26515del13 CDS: c.1447_1459del13 AnimoAcid: p.Gly482fs |
Deletion | Direct sequencing |
Ishibashi F et al., 2000 |
| 37 | Deletion | Genomic: g.29586delA CDS: c.1497delA AnimoAcid: p.Lys499fs |
Deletion | Direct sequencing |
Ishibashi F et al., 2000 |
| 38 | Deletion | Genomic: g.29610_29615delAAAGA CDS: c.1521_1525delAAAGA AnimoAcid: p.Lys506fs |
Deletion | Direct sequencing |
Ishibashi F et al., 2000 |
| 39 | Insertion | Genomic: g.29610insCATCTGGG CDS: c.1521insCATCTGGG AnimoAcid: p.Lys506fs |
Insertion | Direct sequencing |
Ishibashi F et al., 2000 |
| 40 | Substitutions | Genomic: g.29635T>C CDS: c.1546T>C AnimoAcid: p.Trp516Arg |
Substitutions | Direct sequencing |
Ishibashi F et al., 2000 |
| 41 | Substitutions | Genomic: g.13648G>A CDS: c.338-1G>A AnimoAcid: |
Substitutions | Direct sequencing |
Ishibashi F et al., 2000 |
| 42 | Substitutions | Genomic: g.21238A>G CDS: c.805-2A>G AnimoAcid: |
Substitutions | Direct sequencing |
Ishibashi F et al., 2000 |
| 43 | Deletion | Genomic: g.24001delT CDS: c.1038delT AnimoAcid: p.Glu347ArgfsX39 |
Deletion | Direct sequencing, SSCP |
Pitimana et al.,1998 |
| 44 | Deletion-Insertion | Genomic: g.25151_25152delAGinsT CDS: c.1313_1314delAGinsT AnimoAcid: p.Lys438IlefsX64 |
Deletion-Insertion | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 45 | Duplications | Genomic: g.25072dupG CDS: c.1234dupG AnimoAcid: p.Val413GlyfsX18 |
Duplications | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 46 | Deletion | Genomic: g.16046delA CDS: c.595delA AnimoAcid: p.Arg199GlyfsX15 |
Deletion | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 47 | Insertion | Genomic: g.23979_23980insC CDS: c.1016_1017insC AnimoAcid: p.Phe340fs |
Insertion | Direct sequencing |
Wolach B et al., 2008 |
| 48 | Substitutions | Genomic: g.18940C>T CDS: c.676C>T AnimoAcid: p.Arg226X |
Substitutions | Direct sequencing |
Wolach B et al., 2008 |
| 49 | Deletion-Insertion | Genomic: g.2116_2118delinsGGT CDS: c.90_92delinsGGT AnimoAcid: p.Tyr30X |
Deletion-Insertion | Direct sequencing |
Wolach B et al., 2008 |
| 50 | Deletion | Genomic: g.13699delC CDS: c.388delC AnimoAcid: p.Arg130fs |
Deletion | Direct sequencing |
Wolach B et al., 2008 |
| 51 | Substitutions | Genomic: g.23979C>A CDS: c.1016C>A AnimoAcid: p.Pro339His |
Substitutions | Direct sequencing |
Wolach B et al., 2008 |
| 52 | Substitutions | Genomic: g.24044T>C CDS: c.1081T>C AnimoAcid: p.Trp361Arg |
Substitutions | Direct sequencing |
Wolach B et al., 2008 |
| 53 | Substitutions | Genomic: g.11977C>T CDS: c.271C>T AnimoAcid: p.Arg91X |
Substitutions | Direct sequencing |
Wolach B et al., 2008 |
| 54 | Substitutions | Genomic: g.13699C>T CDS: c.388C>T AnimoAcid: p.Arg130X |
Substitutions | Direct sequencing |
Wolach B et al., 2008 |
| 55 | Deletion | Genomic: g.25109delG CDS: c.1271delG AnimoAcid: p.Trp424CysfsX11 |
Deletion | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 56 | Duplications | Genomic: g.18970_18971dupTT CDS: c.706_707dupTT AnimoAcid: p.Leu236PhefsX7 |
Duplications | Direct sequencing |
Ariga T et al., 1998 |
| 57 | Substitutions | Genomic: g.23994C>T CDS: c.1031C>T AnimoAcid: p.Ser344Phe |
Substitutions | Direct sequencing |
Ariga T et al., 1998 |
| 58 | Substitutions | Genomic: g.3493G>T CDS: c.161G>T AnimoAcid: p.Arg54Met |
Substitutions | Direct sequencing |
Ariga T et al., 1998 |
| 59 | Substitutions | Genomic: g.3490C>A CDS: c.158C>A AnimoAcid: p.Ala55Asp |
Substitutions | Direct sequencing |
Ariga T et al., 1998 |
| 60 | Substitutions | Genomic: g.13648G>A CDS: c.338-1G>A AnimoAcid: |
Substitutions | Direct sequencing |
Ariga T et al., 1998 |
| 61 | Substitutions | Genomic: g.72G>A CDS: c.11G>A AnimoAcid: p.Trp4X |
Substitutions | Direct sequencing |
Kannengiesser C et al., 2008 |
| 62 | Substitutions | Genomic: g.2079G>A CDS: c.53G>A AnimoAcid: p.Trp18X |
Substitutions | Direct sequencing |
Kannengiesser C et al., 2008 |
| 63 | Substitutions | Genomic: g.3496C>A CDS: c.164C>A AnimoAcid: p.Ala55Asp |
Substitutions | Direct sequencing |
Kannengiesser C et al., 2008 |
| 64 | Substitutions | Genomic: g.13699C>T CDS: c.388C>T AnimoAcid: p.Arg130X |
Substitutions | Direct sequencing |
Kannengiesser C et al., 2008 |
| 65 | Substitutions | Genomic: g.13733T>C CDS: c.422T>C AnimoAcid: p.Leu141Pro |
Substitutions | Direct sequencing |
Kannengiesser C et al., 2008 |
| 66 | Substitutions | Genomic: g.13780C>T CDS: c.469C>T AnimoAcid: p.Arg157X |
Substitutions | Direct sequencing |
Kannengiesser C et al., 2008 |
| 67 | Substitutions | Genomic: g.16028T>C CDS: c.577T>C AnimoAcid: p.Ser193Pro |
Substitutions | Direct sequencing |
Kannengiesser C et al., 2008 |
| 68 | Substitutions | Genomic: g.16078T>A CDS: c.627T>A AnimoAcid: p.His209Gln |
Substitutions | Direct sequencing |
Kannengiesser C et al., 2008 |
| 69 | Substitutions | Genomic: g.16116A>G CDS: c.665A>G AnimoAcid: p.His222Arg |
Substitutions | Direct sequencing |
Kannengiesser C et al., 2008 |
| 70 | Substitutions | Genomic: g.18940C>T CDS: c.676C>T AnimoAcid: p.Arg226X |
Substitutions | Direct sequencing |
Kannengiesser C et al., 2008 |
| 71 | Substitutions | Genomic: g.18996T>A CDS: c.732T>A AnimoAcid: p.Cys244X |
Substitutions | Direct sequencing |
Kannengiesser C et al., 2008 |
| 72 | Substitutions | Genomic: g.19000C>T CDS: c.736C>T AnimoAcid: p.Gln246X |
Substitutions | Direct sequencing |
Kannengiesser C et al., 2008 |
| 73 | Substitutions | Genomic: g.21303C>T CDS: c.868C>T AnimoAcid: p.Arg290X |
Substitutions | Direct sequencing |
Kannengiesser C et al., 2008 |
| 74 | Substitutions | Genomic: g.23867A>C CDS: c.904A>C AnimoAcid: p.Thr302Pro |
Substitutions | Direct sequencing |
Kannengiesser C et al., 2008 |
| 75 | Substitutions | Genomic: g.24038G>A CDS: c.1075G>A AnimoAcid: p.Gly359Arg |
Substitutions | Direct sequencing |
Kannengiesser C et al., 2008 |
| 76 | Substitutions | Genomic: g.24046G>A CDS: c.1083G>A AnimoAcid: p.Trp361X |
Substitutions | Direct sequencing |
Kannengiesser C et al., 2008 |
| 77 | Substitutions | Genomic: g.25102C>A CDS: c.1264C>A AnimoAcid: p.Ser422X |
Substitutions | Direct sequencing |
Kannengiesser C et al., 2008 |
| 78 | Substitutions | Genomic: g.26413T>C CDS: c.1357T>C AnimoAcid: p.Trp453Arg |
Substitutions | Direct sequencing |
Kannengiesser C et al., 2008 |
| 79 | Substitutions | Genomic: g.29587G>T CDS: c.1498G>T AnimoAcid: p.Asp500Tyr |
Substitutions | Direct sequencing |
Kannengiesser C et al., 2008 |
| 80 | Substitutions | Genomic: g.29587G>C CDS: c.1498G>C AnimoAcid: p.Asp500His |
Substitutions | Direct sequencing |
Kannengiesser C et al., 2008 |
| 81 | Substitutions | Genomic: g.29589T>G CDS: c.1500T>G AnimoAcid: p.Asp500Glu |
Substitutions | Direct sequencing |
Kannengiesser C et al., 2008 |
| 82 | Substitutions | Genomic: g.29622T>A CDS: c.1533T>A AnimoAcid: p.Tyr511X |
Substitutions | Direct sequencing |
Kannengiesser C et al., 2008 |
| 83 | Substitutions | Genomic: g.29635T>A CDS: c.1546T>A AnimoAcid: p.Trp516Arg |
Substitutions | Direct sequencing |
Kannengiesser C et al., 2008 |
| 84 | Substitutions | Genomic: g.111G>A CDS: c.45+5G>A AnimoAcid: |
Substitutions | Direct sequencing |
Kannengiesser C et al., 2008 |
| 85 | Substitutions | Genomic: g.2061T>G CDS: c.46-11T>G AnimoAcid: |
Substitutions | Direct sequencing |
Kannengiesser C et al., 2008 |
| 86 | Substitutions | Genomic: g.13795G>A CDS: c.483+1G>A AnimoAcid: |
Substitutions | Direct sequencing |
Kannengiesser C et al., 2008 |
| 87 | Duplications | Genomic: g.16079_16082dupCATC CDS: c.628_631dupCATC AnimoAcid: p.Leu211ProfsX15 |
Duplications | Direct sequencing |
Kannengiesser C et al., 2008 |
| 88 | Duplications | Genomic: g.19006dupA CDS: c.742dupA AnimoAcid: p.Ile248AsnfsX35 |
Duplications | Direct sequencing |
Kannengiesser C et al., 2008 |
| 89 | Deletion | Genomic: g.19061delC CDS: c.797delC AnimoAcid: p.Pro266LeufsX3 |
Deletion | Direct sequencing |
Kannengiesser C et al., 2008 |
| 90 | Substitutions | Genomic: g.21333G>T CDS: c.897+1G>T AnimoAcid: |
Substitutions | Direct sequencing |
Kannengiesser C et al., 2008 |
| 91 | Deletion | Genomic: g.24026delA CDS: c.1063delA AnimoAcid: p.Ile355SerfsX30 |
Deletion | Direct sequencing |
Kannengiesser C et al., 2008 |
| 92 | Deletion | Genomic: g.26396delA CDS: c.1340delA AnimoAcid: p.Asp447AlafsX54 |
Deletion | Direct sequencing |
Kannengiesser C et al., 2008 |
| 93 | Deletion | Genomic: g.29598delA CDS: c.1509delA AnimoAcid: p.Gly504AlafsX1 |
Deletion | Direct sequencing |
Kannengiesser C et al., 2008 |
| 94 | Deletion | Genomic: g.29612delA CDS: c.1523delA AnimoAcid: p.Lys508ArgfsX24 |
Deletion | Direct sequencing |
Kannengiesser C et al., 2008 |
| 95 | Duplications | Genomic: g.29668dupC CDS: c.1579dupC AnimoAcid: p.His527ProfsX2 |
Duplications | Direct sequencing |
Kannengiesser C et al., 2008 |
| 96 | Deletion | Genomic: g.30798_30799delGT CDS: c.1610_1611delGT AnimoAcid: p.Cys537TrpfsX2 |
Deletion | Direct sequencing |
Kannengiesser C et al., 2008 |
| 97 | Substitutions | Genomic: g.25060G>C CDS: c.1222G>C AnimoAcid: p.Gly408Arg |
Substitutions | Direct sequencing |
Bakri FG et al., 2009 |
| 98 | Substitutions | Genomic: g.16069G>A CDS: c.618G>A AnimoAcid: p.Trp206X |
Substitutions | Direct sequencing |
Gono T et al., 2008 |
| 99 | Deletion | Genomic: g.19016delG CDS: c.752delG AnimoAcid: p.Gly252GlufsX3 |
Deletion | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 100 | Substitutions | Genomic: g.19070T>A CDS: c.804+2T>A AnimoAcid: p.Arg226fs |
Substitutions | Direct sequencing |
de Boer M et al., 1992 |
| 101 | Substitutions | Genomic: g.13797A>T CDS: c.483+3A>T AnimoAcid: p.Ala113fs |
Substitutions | Direct sequencing |
de Boer M et al., 1992 |
| 102 | Substitutions | Genomic: g.3589G>A CDS: c.252+5G>A AnimoAcid: p.Ser48fs |
Substitutions | Direct sequencing |
de Boer M et al., 1992 |
| 103 | Substitutions | Genomic: g.2071G>A CDS: c.46-1G>A AnimoAcid: p.Leu16fs |
Substitutions | Direct sequencing |
de Boer M et al., 1992 |
| 104 | Substitutions | Genomic: g.25110G>A CDS: c.1272G>A AnimoAcid: p.Trp424X |
Substitutions | Fluorescent sequencing, SSCP |
Teimourian S et al., 2008 |
| 105 | Substitutions | Genomic: g.18940C>T CDS: c.676C>T AnimoAcid: p.Arg226X |
Substitutions | Fluorescent sequencing, SSCP |
Teimourian S et al., 2008 |
| 106 | Deletion | Genomic: g.18967_18968delAG CDS: c.703_704delAG AnimoAcid: p.Ser235fs |
Deletion | Fluorescent sequencing, SSCP |
Teimourian S et al., 2008 |
| 107 | Substitutions | Genomic: g.3549C>T CDS: c.217C>T AnimoAcid: p.Arg73X |
Substitutions | Fluorescent sequencing, SSCP |
Teimourian S et al., 2008 |
| 108 | Substitutions | Genomic: g.21303C>T CDS: c.868C>T AnimoAcid: p.Arg290X |
Substitutions | Fluorescent sequencing, SSCP |
Teimourian S et al., 2008 |
| 109 | Substitutions | Genomic: g.11977C>T CDS: c.271C>T AnimoAcid: p.Arg91X |
Substitutions | Fluorescent sequencing, SSCP |
Teimourian S et al., 2008 |
| 110 | Substitutions | Genomic: g.23974G>A CDS: c.1011G>A AnimoAcid: p.Trp337X |
Substitutions | Fluorescent sequencing, SSCP |
Teimourian S et al., 2008 |
| 111 | Substitutions | Genomic: g.21245G>A CDS: c.810G>A AnimoAcid: p.Trp270X |
Substitutions | Fluorescent sequencing, SSCP |
Teimourian S et al., 2008 |
| 112 | Substitutions | Genomic: g.13699C>T CDS: c.388C>T AnimoAcid: p.Arg130X |
Substitutions | Dideoxy fingerprinting, PCR based assay |
Porter CD et al., 1996 |
| 113 | Substitutions | Genomic: g.21303C>T CDS: c.868C>T AnimoAcid: p.Arg290X |
Substitutions | Dideoxy fingerprinting, PCR based assay |
Porter CD et al., 1996 |
| 114 | Substitutions | Genomic: g.13795G>T CDS: c.483+1G>T AnimoAcid: p.Ala113fs |
Substitutions | Dideoxy fingerprinting, PCR based assay |
Porter CD et al., 1996 |
| 115 | Substitutions | Genomic: g.3584G>A CDS: c.252G>A AnimoAcid: p.Ser48_Ala84del |
Substitutions | Dideoxy fingerprinting, PCR based assay |
Porter CD et al., 1996 |
| 116 | Substitutions | Genomic: g.23985C>A CDS: c.1022C>A AnimoAcid: p.Thr341Lys |
Substitutions | Direct sequencing |
Leusen JH et al., 2000 |
| 117 | Substitutions | Genomic: g.24068T>C CDS: c.1105T>C AnimoAcid: p.Cys369Arg |
Substitutions | Direct sequencing |
Leusen JH et al., 2000 |
| 118 | Substitutions | Genomic: g.25004G>C CDS: c.1166G>C AnimoAcid: p.Gly389Ala |
Substitutions | Direct sequencing |
Bolscher BG et al., 1991 |
| 119 | Substitutions | Genomic: g.25061G>A CDS: c.1223G>A AnimoAcid: p.Gly408Glu |
Substitutions | Direct sequencing |
Leusen JH et al., 2000 |
| 120 | Substitutions | Genomic: g.30890G>A CDS: c.1702G>A AnimoAcid: p.Glu568Lys |
Substitutions | Direct sequencing |
Leusen JH et al., 2000 |
| 121 | Substitutions | Genomic: g.16076C>T CDS: c.625C>T AnimoAcid: p.His209Tyr |
Substitutions | Direct sequencing |
Bolscher BG et al., 1991 |
| 122 | Substitutions | Genomic: g.13780C>T CDS: c.469C>T AnimoAcid: p.Arg157X |
Substitutions | Direct sequencing |
Bolscher BG et al., 1991 |
| 123 | Substitutions | Genomic: g.18995G>C CDS: c.731G>C AnimoAcid: p.Cys244Ser |
Substitutions | Direct sequencing |
Bolscher BG et al., 1991 |
| 124 | Substitutions | Genomic: g.13777G>A CDS: c.466G>A AnimoAcid: p.Ala156Thr |
Substitutions | Direct sequencing |
Bolscher BG et al., 1991 |
| 125 | Substitutions | Genomic: g.12008A>G CDS: c.302A>G AnimoAcid: p.His101Arg |
Substitutions | Direct sequencing |
Bolscher BG et al., 1991 |
| 126 | Deletion | Genomic: g.19020delA CDS: c.756delA AnimoAcid: p.Ile254X |
Deletion | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 127 | Substitutions | Genomic: g.23988T>A CDS: c.1025T>A AnimoAcid: p.Leu342Glu |
Substitutions | Direct sequencing, SSCP |
Hui YF et al., 1996 |
| 128 | Deletion | Genomic: g.16097_16099delTTC CDS: c.646_648delTTC AnimoAcid: p.Phe216del |
Deletion | Direct sequencing, SSCP |
Hui YF et al., 1996 |
| 129 | Substitutions | Genomic: g.16064T>A CDS: c.613T>A AnimoAcid: p.Phe205Ile |
Substitutions | Direct sequencing, SSCP |
Hui YF et al., 1996 |
| 130 | Duplications | Genomic: g.19006dupA CDS: c.742dupA AnimoAcid: p.Ile248fs |
Duplications | Direct sequencing, SSCP |
Hui YF et al., 1996 |
| 131 | Substitutions | Genomic: g.29644G>T CDS: c.1555G>T AnimoAcid: p.Glu519X |
Substitutions | Direct sequencing, SSCP |
Hui YF et al., 1996 |
| 132 | Substitutions | Genomic: g.3584G>A CDS: c.252G>A AnimoAcid: p.Ser48fs |
Substitutions | Direct sequencing, SSCP |
Hui YF et al., 1996 |
| 133 | Substitutions | Genomic: g.2110G>A CDS: c.84G>A AnimoAcid: p.Trp28X |
Substitutions | Direct sequencing, SSCP |
Gerard B et al., 2001 |
| 134 | Substitutions | Genomic: g.3549C>T CDS: c.217C>T AnimoAcid: p.Arg73X |
Substitutions | Direct sequencing, SSCP |
Gerard B et al., 2001 |
| 135 | Substitutions | Genomic: g.13699C>T CDS: c.388C>T AnimoAcid: p.Arg130X |
Substitutions | Direct sequencing, SSCP |
Gerard B et al., 2001 |
| 136 | Substitutions | Genomic: g.18940C>T CDS: c.676C>T AnimoAcid: p.Arg226X |
Substitutions | Direct sequencing, SSCP |
Gerard B et al., 2001 |
| 137 | Substitutions | Genomic: g.18955C>T CDS: c.691C>T AnimoAcid: p.Gln231X |
Substitutions | Direct sequencing, SSCP |
Gerard B et al., 2001 |
| 138 | Substitutions | Genomic: g.21303C>T CDS: c.868C>T AnimoAcid: p.Arg290X |
Substitutions | Direct sequencing, SSCP |
Gerard B et al., 2001 |
| 139 | Substitutions | Genomic: g.26440G>T CDS: c.1384G>T AnimoAcid: p.Glu462X |
Substitutions | Direct sequencing, SSCP |
Gerard B et al., 2001 |
| 140 | Substitutions | Genomic: g.3509C>G CDS: c.177C>G AnimoAcid: p.Cys59Trp |
Substitutions | Direct sequencing, SSCP |
Gerard B et al., 2001 |
| 141 | Substitutions | Genomic: g.23882A>C CDS: c.919A>C AnimoAcid: p.Thr307Pro |
Substitutions | Direct sequencing, SSCP |
Gerard B et al., 2001 |
| 142 | Substitutions | Genomic: g.29603T>G CDS: c.1514T>G AnimoAcid: p.Leu505Arg |
Substitutions | Direct sequencing, SSCP |
Gerard B et al., 2001 |
| 143 | Deletion | Genomic: g.3491_3496delCAGGGC CDS: c.159_164delCAGGGC AnimoAcid: p.Arg54_Ala55del |
Deletion | Direct sequencing, SSCP |
Gerard B et al., 2001 |
| 144 | Insertion | Genomic: g.2118_2119insC CDS: c.92_93insC AnimoAcid: p.Val32GlyfsX3 |
Insertion | Direct sequencing, SSCP |
Gerard B et al., 2001 |
| 145 | Insertion | Genomic: g.11996_11997insAGGAA CDS: c.290_291insAGGAA AnimoAcid: p.Asn97LysfsX33 |
Insertion | Direct sequencing, SSCP |
Gerard B et al., 2001 |
| 146 | Insertion | Genomic: g.23884_23885insGTTTC CDS: c.921_922insGTTTC AnimoAcid: p.Ile308SerfsX6 |
Insertion | Direct sequencing, SSCP |
Gerard B et al., 2001 |
| 147 | Substitutions | Genomic: g.11956A>G CDS: c.253-3A>G AnimoAcid: |
Substitutions | Direct sequencing |
Lewis EM et al., 2008 |
| 148 | Deletion | Genomic: g.23926delG CDS: c.963delG AnimoAcid: p.Gly322AspfsX21 |
Deletion | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 149 | Insertion | Genomic: g.30850_30851insT CDS: c.1662_1663insT AnimoAcid: p.Glu555X |
Insertion | Direct sequencing, SSCP |
Oh HB et al., 2004 |
| 150 | Substitutions | Genomic: g.26370G>T CDS: c.1315-1G>T AnimoAcid: |
Substitutions | Direct sequencing, SSCP |
Oh HB et al., 2004 |
| 151 | Insertion | Genomic: g.88_89insG CDS: c.27_28insG AnimoAcid: p.Leu10fs |
Insertion | Direct sequencing, SSCP |
Oh HB et al., 2004 |
| 152 | Deletion | Genomic: g.23878delC CDS: c.915delC AnimoAcid: p.Phe305fs |
Deletion | Direct sequencing, SSCP |
Oh HB et al., 2004 |
| 153 | Substitutions | Genomic: g.13733T>C CDS: c.422T>C AnimoAcid: p.Leu141Pro |
Substitutions | Direct sequencing, SSCP |
Oh HB et al., 2004 |
| 154 | Substitutions | Genomic: g.21302G>A CDS: c.867G>A AnimoAcid: p.Trp289X |
Substitutions | Direct sequencing |
Anderson-Cohen M et al., 2003 |
| 155 | Insertion | Genomic: g.19006_19007insA CDS: c.742_743insA AnimoAcid: p.Ile248fs |
Insertion | Direct sequencing |
Hauck F et al., 2008 |
| 156 | Substitutions | Genomic: g.23870C>A CDS: c.907C>A AnimoAcid: p.His303Asn |
Substitutions | Direct sequencing, PCR based assay, SSCP |
Stasia MJ et al., 2002 |
| 157 | Substitutions | Genomic: g.23874C>G CDS: c.911C>G AnimoAcid: p.Pro304Arg |
Substitutions | Direct sequencing, PCR based assay, SSCP |
Stasia MJ et al., 2002 |
| 158 | Substitutions | Genomic: g.16130G>C CDS: c.674+5G>C AnimoAcid: |
Substitutions | Direct sequencing |
Barese CN et al., 2005 |
| 159 | Substitutions | Genomic: g.2147T>G CDS: c.121T>G AnimoAcid: p.Tyr41Asp |
Substitutions | Fluorescent sequencing, PCR based assay |
Jirapongsananuruk O et al., 2002 |
| 160 | Substitutions | Genomic: g.30797T>C CDS: c.1609T>C AnimoAcid: p.Cys537Arg |
Substitutions | Fluorescent sequencing, PCR based assay |
Jirapongsananuruk O et al., 2002 |
| 161 | Substitutions | Genomic: g.2079G>A CDS: c.53G>A AnimoAcid: p.Trp18X |
Substitutions | Direct sequencing |
Stasia MJ et al., 2005 |
| 162 | Substitutions | Genomic: g.13686G>A CDS: c.375G>A AnimoAcid: p.Trp125X |
Substitutions | Direct sequencing |
Stasia MJ et al., 2005 |
| 163 | Substitutions | Genomic: g.13780C>T CDS: c.469C>T AnimoAcid: p.Arg157X |
Substitutions | Direct sequencing |
Stasia MJ et al., 2005 |
| 164 | Substitutions | Genomic: g.23921G>T CDS: c.958G>T AnimoAcid: p.Glu320X |
Substitutions | Direct sequencing |
Stasia MJ et al., 2005 |
| 165 | Substitutions | Genomic: g.29637G>A CDS: c.1548G>A AnimoAcid: p.Trp516X |
Substitutions | Direct sequencing |
Stasia MJ et al., 2005 |
| 166 | Deletion | Genomic: g.23956delG CDS: c.993delG AnimoAcid: p.Val332CysfsX11 |
Deletion | Direct sequencing |
Stasia MJ et al., 2005 |
| 167 | Substitutions | Genomic: g.29603T>G CDS: c.1514T>G AnimoAcid: p.Leu505Arg |
Substitutions | Direct sequencing |
Stasia MJ et al., 2005 |
| 168 | Substitutions | Genomic: g.2147T>G CDS: c.121T>G AnimoAcid: p.Tyr41Asp |
Substitutions | Direct sequencing |
Jirapongsananuruk O et al., 2003 |
| 169 | Substitutions | Genomic: g.30797T>C CDS: c.1609T>C AnimoAcid: p.Cys537Arg |
Substitutions | Direct sequencing |
Jirapongsananuruk O et al., 2003 |
| 170 | Deletion | Genomic: g.13750_13751delAG CDS: c.439_440delAG AnimoAcid: p.Arg147AlafsX3 |
Deletion | Direct sequencing, SSCP |
von Goessel H et al., 2006 |
| 171 | Deletion | Genomic: g.19052delC CDS: c.788delC AnimoAcid: p.Ala263ValfsX6 |
Deletion | Direct sequencing, SSCP |
von Goessel H et al., 2006 |
| 172 | Deletion | Genomic: g.23942delC CDS: c.979delC AnimoAcid: p.Val327SerfsX16 |
Deletion | Direct sequencing, SSCP |
von Goessel H et al., 2006 |
| 173 | Substitutions | Genomic: g.3524C>A CDS: c.192C>A AnimoAcid: p.Cys64X |
Substitutions | Direct sequencing, SSCP |
von Goessel H et al., 2006 |
| 174 | Substitutions | Genomic: g.12024G>A CDS: c.318G>A AnimoAcid: p.Trp106X |
Substitutions | Direct sequencing, SSCP |
von Goessel H et al., 2006 |
| 175 | Substitutions | Genomic: g.13699C>T CDS: c.388C>T AnimoAcid: p.Arg130X |
Substitutions | Direct sequencing, SSCP |
von Goessel H et al., 2006 |
| 176 | Substitutions | Genomic: g.18940C>T CDS: c.676C>T AnimoAcid: p.Arg226X |
Substitutions | Direct sequencing, SSCP |
von Goessel H et al., 2006 |
| 177 | Substitutions | Genomic: g.26382C>G CDS: c.1326C>G AnimoAcid: p.Tyr442X |
Substitutions | Direct sequencing, SSCP |
von Goessel H et al., 2006 |
| 178 | Substitutions | Genomic: g.23882A>C CDS: c.919A>C AnimoAcid: p.Thr307Pro |
Substitutions | Direct sequencing, SSCP |
von Goessel H et al., 2006 |
| 179 | Substitutions | Genomic: g.23990A>C CDS: c.1027A>C AnimoAcid: p.Thr343Pro |
Substitutions | Direct sequencing, SSCP |
von Goessel H et al., 2006 |
| 180 | Substitutions | Genomic: g.107G>A CDS: c.45+1G>A AnimoAcid: |
Substitutions | Direct sequencing, SSCP |
von Goessel H et al., 2006 |
| 181 | Substitutions | Genomic: g.2071G>T CDS: c.46-1G>T AnimoAcid: |
Substitutions | Direct sequencing, SSCP |
von Goessel H et al., 2006 |
| 182 | Substitutions | Genomic: g.3589G>A CDS: c.252+5G>A AnimoAcid: |
Substitutions | Direct sequencing, SSCP |
von Goessel H et al., 2006 |
| 183 | Substitutions | Genomic: g.12044G>C CDS: c.337+1G>C AnimoAcid: |
Substitutions | Direct sequencing, SSCP |
von Goessel H et al., 2006 |
| 184 | Substitutions | Genomic: g.21238A>G CDS: c.805-2A>G AnimoAcid: |
Substitutions | Direct sequencing |
Ariga T et al., 1998 |
| 185 | Duplications | Genomic: g.3527dupG CDS: c.195dupG AnimoAcid: p.Leu66AlafsX37 |
Duplications | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 186 | Deletion | Genomic: g.23906_23908delAAG CDS: c.943_945delAAG AnimoAcid: p.Lys315del |
Deletion | Direct sequencing, PCR based assay |
Bu-Ghanim HN et al., 1995 |
| 187 | Substitutions | Genomic: g.18995G>A CDS: c.731G>A AnimoAcid: p.Cys244Tyr |
Substitutions | Direct sequencing, PCR based assay |
Bu-Ghanim HN et al., 1995 |
| 188 | Duplications | Genomic: g.23979dupC CDS: c.1016dupC AnimoAcid: p.Thr341TyrfsX7 |
Duplications | Direct sequencing |
Wolach B et al., 2005 |
| 189 | Substitutions | Genomic: g.13699C>T CDS: c.388C>T AnimoAcid: p.Arg130X |
Substitutions | Direct sequencing |
Chollet-Martin S et al., 2007 |
| 190 | Insertion | Genomic: g.16083_16084insCATC CDS: c.632_633insCATC AnimoAcid: p.Phe212IlefsX15 |
Insertion | Direct sequencing |
Chollet-Martin S et al., 2007 |
| 191 | Substitutions | Genomic: g.3494G>C CDS: c.162G>C AnimoAcid: p.Arg54Ser |
Substitutions | Direct sequencing |
Cross AR et al., 1995 |
| 192 | Substitutions | Genomic: g.11977C>T CDS: c.271C>T AnimoAcid: p.Arg91X |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Vilaiphan P et al., 2007 |
| 193 | Substitutions | Genomic: g.13767T>A CDS: c.456T>A AnimoAcid: p.Tyr152X |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Vilaiphan P et al., 2007 |
| 194 | Deletion | Genomic: g.26511delG CDS: c.1455delG AnimoAcid: p.Glu485AspfsX17 |
Deletion | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 195 | Substitutions | Genomic: g.30825T>C CDS: c.1637T>C AnimoAcid: p.Leu546Pro |
Substitutions | Direct sequencing |
Roesler J et al., 1999 |
| 196 | Substitutions | Genomic: g.16029C>T CDS: c.578C>T AnimoAcid: p.Ser193Phe |
Substitutions | Direct sequencing |
Roesler J et al., 1999 |
| 197 | Substitutions | Genomic: g.23975C>T CDS: c.1012C>T AnimoAcid: p.His338Tyr |
Substitutions | Direct sequencing |
Roesler J et al., 1999 |
| 198 | Substitutions | Genomic: g.23975C>T CDS: c.1012C>T AnimoAcid: p.His338Tyr |
Substitutions | Direct sequencing |
Yoshida LS et al., 1998 |
| 199 | Substitutions | Genomic: g.23979C>A CDS: c.1016C>A AnimoAcid: p.Pro339His |
Substitutions | Direct sequencing |
Roesler J et al., 1999 |
| 200 | Substitutions | Genomic: g.16116A>G CDS: c.665A>G AnimoAcid: p.His222Arg |
Substitutions | Direct sequencing |
Roesler J et al., 1999 |
| 201 | Substitutions | Genomic: g.13799G>A CDS: c.483+5G>A AnimoAcid: |
Substitutions | Direct sequencing |
Roesler J et al., 1999 |
| 202 | Substitutions | Genomic: g.24979T>G CDS: c.1152-11T>G AnimoAcid: |
Substitutions | Direct sequencing |
Roesler J et al., 1999 |
| 203 | Substitutions | Genomic: g.107G>C CDS: c.45+1G>C AnimoAcid: |
Substitutions | Direct sequencing |
Roesler J et al., 1999 |
| 204 | Substitutions | Genomic: g.2172G>A CDS: c.141+5G>A AnimoAcid: |
Substitutions | Direct sequencing |
Roesler J et al., 1999 |
| 205 | Substitutions | Genomic: g.29635T>C CDS: c.1546T>C AnimoAcid: p.Trp516Arg |
Substitutions | Direct sequencing |
Kaneda M et al., 1999 |
| 206 | Deletion | Genomic: g.26371delA CDS: c.1315delA AnimoAcid: p.Ile439Serfs |
Deletion | Direct sequencing |
Dusi S et al., 1998 |
| 207 | Substitutions | Genomic: g.15986G>A CDS: c.535G>A AnimoAcid: p.Gly179Arg |
Substitutions | Direct sequencing |
Dusi S et al., 1998 |
| 208 | Deletion | Genomic: g.101delG CDS: c.40delG AnimoAcid: p.Val14SerfsX8 |
Deletion | Direct sequencing |
Dusi S et al., 1998 |
| 209 | Substitutions | Genomic: g.29637G>A CDS: c.1548G>A AnimoAcid: p.Trp516X |
Substitutions | Direct sequencing |
Dusi S et al., 1998 |
| 210 | Deletion | Genomic: g.21240_21332del CDS: c.805_897del AnimoAcid: p.Thr269_Lys299del |
Deletion | Direct sequencing |
Dusi S et al., 1998 |
| 211 | Deletion | Genomic: g.21377_23919del CDS: c.892_906del AnimoAcid: p.Thr298_Thr302del |
Deletion | Direct sequencing |
Dusi S et al., 1998 |
| 212 | Substitutions | Genomic: g.23888G>A CDS: c.925G>A AnimoAcid: p.Glu309Lys |
Substitutions | Direct sequencing |
Kaneda M et al., 1999 |
| 213 | Substitutions | Genomic: g.25097T>C CDS: c.1259T>C AnimoAcid: p.Leu420Pro |
Substitutions | Direct sequencing |
Kaneda M et al., 1999 |
| 214 | Substitutions | Genomic: g.12007C>T CDS: c.301C>T AnimoAcid: p.His101Tyr |
Substitutions | Direct sequencing |
Kaneda M et al., 1999 |
| 215 | Substitutions | Genomic: g.12007C>T CDS: c.301C>T AnimoAcid: p.His101Tyr |
Substitutions | Dideoxy fingerprinting |
Tsuda M et al., 1998 |
| 216 | Deletion | Genomic: g.18980_18984delATAAT CDS: c.716_720delATAAT AnimoAcid: p.Ile241SerfsX3 |
Deletion | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 217 | Substitutions | Genomic: g.2084G>C CDS: c.58G>C AnimoAcid: p.Gly20Arg |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 218 | Substitutions | Genomic: g.3494G>C CDS: c.162G>C AnimoAcid: p.Arg54Ser |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 219 | Substitutions | Genomic: g.3507T>C CDS: c.175T>C AnimoAcid: p.Cys59Arg |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 220 | Substitutions | Genomic: g.13667A>G CDS: c.356A>G AnimoAcid: p.His119Arg |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 221 | Substitutions | Genomic: g.13777G>A CDS: c.466G>A AnimoAcid: p.Ala156Thr |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 222 | Substitutions | Genomic: g.16078T>A CDS: c.627T>A AnimoAcid: p.His209Gln |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 223 | Substitutions | Genomic: g.16115C>A CDS: c.664C>A AnimoAcid: p.His222Asn |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 224 | Substitutions | Genomic: g.16115C>T CDS: c.664C>T AnimoAcid: p.His222Tyr |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 225 | Substitutions | Genomic: g.16116A>G CDS: c.665A>G AnimoAcid: p.His222Arg |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 226 | Deletion-Insertion | Genomic: g.16118_16119delinsTT CDS: c.667_668delinsTT AnimoAcid: p.Gly223Leu |
Deletion-Insertion | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 227 | Substitutions | Genomic: g.18994T>C CDS: c.730T>C AnimoAcid: p.Cys244Arg |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 228 | Substitutions | Genomic: g.23888G>A CDS: c.925G>A AnimoAcid: p.Glu309Lys |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 229 | Substitutions | Genomic: g.23928G>A CDS: c.965G>A AnimoAcid: p.Gly322Glu |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 230 | Substitutions | Genomic: g.23936A>T CDS: c.973A>T AnimoAcid: p.Ile325Phe |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 231 | Substitutions | Genomic: g.23960T>C CDS: c.997T>C AnimoAcid: p.Ser333Pro |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 232 | Substitutions | Genomic: g.23979C>A CDS: c.1016C>A AnimoAcid: p.Pro339His |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 233 | Substitutions | Genomic: g.24030G>C CDS: c.1067G>C AnimoAcid: p.Arg356Pro |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 234 | Substitutions | Genomic: g.25052T>G CDS: c.1214T>G AnimoAcid: p.Met405Arg |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 235 | Substitutions | Genomic: g.25060G>A CDS: c.1222G>A AnimoAcid: p.Gly408Arg |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 236 | Substitutions | Genomic: g.25061G>A CDS: c.1223G>A AnimoAcid: p.Gly408Glu |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 237 | Substitutions | Genomic: g.25082C>A CDS: c.1244C>A AnimoAcid: p.Pro415His |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 238 | Substitutions | Genomic: g.25082C>T CDS: c.1244C>T AnimoAcid: p.Pro415Leu |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 239 | Substitutions | Genomic: g.25102T>C CDS: c.1264T>C AnimoAcid: p.Ser422Pro |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 240 | Substitutions | Genomic: g.26413T>C CDS: c.1357T>C AnimoAcid: p.Trp453Arg |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 241 | Substitutions | Genomic: g.29637G>T CDS: c.1548G>T AnimoAcid: p.Trp516Cys |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 242 | Substitutions | Genomic: g.30789T>A CDS: c.1601T>A AnimoAcid: p.Val534Asp |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 243 | Substitutions | Genomic: g.30797T>C CDS: c.1609T>C AnimoAcid: p.Cys537Arg |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 244 | Substitutions | Genomic: g.3549C>T CDS: c.217C>T AnimoAcid: p.Arg73X |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 245 | Substitutions | Genomic: g.73G>A CDS: c.12G>A AnimoAcid: p.Trp4X |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 246 | Substitutions | Genomic: g.11977C>T CDS: c.271C>T AnimoAcid: p.Arg91X |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 247 | Substitutions | Genomic: g.13699C>T CDS: c.388C>T AnimoAcid: p.Arg130X |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 248 | Substitutions | Genomic: g.13767T>A CDS: c.456T>A AnimoAcid: p.Tyr152X |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 249 | Substitutions | Genomic: g.13780C>T CDS: c.469C>T AnimoAcid: p.Arg157X |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 250 | Substitutions | Genomic: g.16006C>A CDS: c.555C>A AnimoAcid: p.Cys185X |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 251 | Substitutions | Genomic: g.18940C>T CDS: c.676C>T AnimoAcid: p.Arg226X |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 252 | Substitutions | Genomic: g.19000C>T CDS: c.736C>T AnimoAcid: p.Gln246X |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 253 | Substitutions | Genomic: g.21250G>A CDS: c.815G>A AnimoAcid: p.Trp272X |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 254 | Substitutions | Genomic: g.21303C>T CDS: c.868C>T AnimoAcid: p.Arg290X |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 255 | Substitutions | Genomic: g.23969G>T CDS: c.1006G>T AnimoAcid: p.Glu336X |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 256 | Substitutions | Genomic: g.24102G>A CDS: c.1139G>A AnimoAcid: p.Trp380X |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 257 | Substitutions | Genomic: g.26376C>A CDS: c.1320C>A AnimoAcid: p.Tyr440X |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 258 | Substitutions | Genomic: g.26385G>A CDS: c.1329G>A AnimoAcid: p.Trp443X |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 259 | Substitutions | Genomic: g.26414G>A CDS: c.1358G>A AnimoAcid: p.Trp453X |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 260 | Substitutions | Genomic: g.29608C>T CDS: c.1519C>T AnimoAcid: p.Gln507X |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 261 | Deletion | Genomic: g.16094_16096delTTC CDS: c.643_645delTTC AnimoAcid: p.Phe215del |
Deletion | Dideoxy fingerprinting |
Jendrossek V et al., 1997 |
| 262 | Substitutions | Genomic: g.18940C>T CDS: c.676C>T AnimoAcid: p.Arg226X |
Substitutions | NA |
van Montfrans JM et al., 2009 |
| 263 | Substitutions | Genomic: g.29588A>G CDS: c.1499A>G AnimoAcid: p.Asp500Gly |
Substitutions | Direct sequencing |
Leusen JH et al., 1994 |
| 264 | Duplications | Genomic: g.3490dupC CDS: c.158dupC AnimoAcid: p.Arg54GlnfsX102 |
Duplications | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 265 | Deletion-Insertion | Genomic: g.29621_29627delATGGACGinsTTCA CDS: c.1532_1538delATGGACGinsTTCA AnimoAcid: p.Tyr511_Arg513delinsPheGln |
Deletion-Insertion | Direct sequencing |
Jirapongsananuruk O et al., 2007 |
| 266 | Substitutions | Genomic: g.2071G>C CDS: c.46-1G>C AnimoAcid: p.Leu16_Gly47del |
Substitutions | Direct sequencing |
Lee PP et al., 2008 |
| 267 | Substitutions | Genomic: g.11958G>A CDS: c.253-1G>A AnimoAcid: p.Arg89SerfsX13 |
Substitutions | Direct sequencing |
Lee PP et al., 2008 |
| 268 | Substitutions | Genomic: g.16028T>C CDS: c.577T>C AnimoAcid: p.Ser193Pro |
Substitutions | Direct sequencing |
Lee PP et al., 2008 |
| 269 | Deletion | Genomic: g.18977delT CDS: c.713delT AnimoAcid: p.Val238GlyfsX4 |
Deletion | Direct sequencing |
Lee PP et al., 2008 |
| 270 | Substitutions | Genomic: g.23898T>A CDS: c.935T>A AnimoAcid: p.Met312Lys |
Substitutions | Direct sequencing |
Lee PP et al., 2008 |
| 271 | Deletion | Genomic: g.26383delT CDS: c.1327delT AnimoAcid: p.Trp443fs |
Deletion | Direct sequencing |
Lee PP et al., 2008 |
| 272 | Substitutions | Genomic: g.26493C>A CDS: c.1437C>A AnimoAcid: p.Tyr479X |
Substitutions | Direct sequencing |
Lee PP et al., 2008 |
| 273 | Substitutions | Genomic: g.29587G>C CDS: c.1498G>C AnimoAcid: p.Asp500His |
Substitutions | Direct sequencing |
Lee PP et al., 2008 |
| 274 | Substitutions | Genomic: g.3584G>A CDS: c.252G>A AnimoAcid: p.Ser48_Ala84del |
Substitutions | Direct sequencing |
Lee PP et al., 2008 |
| 275 | Deletion | Genomic: g.16097_16099delTTC CDS: c.646_648delTTC AnimoAcid: p.Phe216del |
Deletion | Direct sequencing |
Lee PP et al., 2008 |
| 276 | Substitutions | Genomic: g.16064T>A CDS: c.613T>A AnimoAcid: p.Phe205Ile |
Substitutions | Direct sequencing |
Lee PP et al., 2008 |
| 277 | Insertion | Genomic: g.19006_19007insA CDS: c.742_743insA AnimoAcid: p.Ile248AsnfsX36 |
Insertion | Direct sequencing |
Lee PP et al., 2008 |
| 278 | Substitutions | Genomic: g.21303C>T CDS: c.868C>T AnimoAcid: p.Arg290X |
Substitutions | Direct sequencing |
Lee PP et al., 2008 |
| 279 | Substitutions | Genomic: g.23988T>A CDS: c.1025T>A AnimoAcid: p.Leu342Gln |
Substitutions | Direct sequencing |
Lee PP et al., 2008 |
| 280 | Substitutions | Genomic: g.29644G>T CDS: c.1555G>T AnimoAcid: p.Glu519X |
Substitutions | Direct sequencing |
Lee PP et al., 2008 |
| 281 | Substitutions | Genomic: g.13749C>T CDS: c.438C>T AnimoAcid: p.Arg147X |
Substitutions | Dideoxy fingerprinting |
Ariga T et al., 1994 |
| 282 | Substitutions | Genomic: g.23978C>A CDS: c.1015C>A AnimoAcid: p.Pro339His |
Substitutions | Direct sequencing |
Ariga T et al., 1994 |
| 283 | Substitutions | Genomic: g.26484C>A CDS: c.1428C>A AnimoAcid: p.Tyr476X |
Substitutions | Direct sequencing |
Ariga T et al., 1994 |
| 284 | Deletion | Genomic: g.12001delA CDS: c.295delA AnimoAcid: p.Thr99ProfsX9 |
Deletion | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 285 | Deletion | Genomic: g.13665delA CDS: c.354delA AnimoAcid: p.His119IlefsX9 |
Deletion | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 286 | Deletion-Insertion | Genomic: g.13753_13754delCAinsT CDS: c.442_443delCAinsT AnimoAcid: p.Gln148X |
Deletion-Insertion | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 287 | Substitutions | Genomic: g.23948T>C CDS: c.985T>C AnimoAcid: p.Cys329Arg |
Substitutions | Direct sequencing, SSCP |
Barese C et al., 2004 |
| 288 | Substitutions | Genomic: g.21303C>T CDS: c.868C>T AnimoAcid: p.Arg290X |
Substitutions | Direct sequencing, SSCP |
Barese C et al., 2004 |
| 289 | Substitutions | Genomic: g.16130G>C CDS: c.674+5G>C AnimoAcid: |
Substitutions | Direct sequencing, SSCP |
Barese C et al., 2004 |
| 290 | Substitutions | Genomic: g.3585G>A CDS: c.252+1G>A AnimoAcid: |
Substitutions | Direct sequencing, SSCP |
Barese C et al., 2004 |
| 291 | Substitutions | Genomic: g.3473G>C CDS: c.142-1G>C AnimoAcid: |
Substitutions | Direct sequencing, SSCP |
Barese C et al., 2004 |
| 292 | Substitutions | Genomic: g.13795G>A CDS: c.483+1G>A AnimoAcid: |
Substitutions | Direct sequencing, SSCP |
Barese C et al., 2004 |
| 293 | Substitutions | Genomic: g.2168G>A CDS: c.141+1G>A AnimoAcid: |
Substitutions | Direct sequencing, SSCP |
Barese C et al., 2004 |
| 294 | Deletion | Genomic: g.19019_19020delGA CDS: c.755_756delGA AnimoAcid: p.Gly252GlufsX31 |
Deletion | Direct sequencing, SSCP |
Barese C et al., 2004 |
| 295 | Substitutions | Genomic: g.16125A>T CDS: c.674A>T AnimoAcid: p.Glu225Val |
Substitutions | Direct sequencing, SSCP |
Barese C et al., 2004 |
| 296 | Substitutions | Genomic: g.3502C>A CDS: c.170C>A AnimoAcid: p.Ala57Glu |
Substitutions | Dideoxy fingerprinting |
Ariga T et al., 1993 |
| 297 | Duplications | Genomic: g.26512dupT CDS: c.1456dupT AnimoAcid: p.Ser486PhefsX11 |
Duplications | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 298 | Deletion | Genomic: g.29552delC CDS: c.1463delC AnimoAcid: p.Asn489IlefsX14 |
Deletion | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 299 | Deletion | Genomic: g.29616_29617delTT CDS: c.1527_1528delTT AnimoAcid: p.Leu510ValfsX8 |
Deletion | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 300 | Substitutions | Genomic: g.112T>C CDS: c.45+6T>C AnimoAcid: |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 301 | Substitutions | Genomic: g.3472A>G CDS: c.142-2A>G AnimoAcid: |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 302 | Substitutions | Genomic: g.2168G>T CDS: c.141+1G>T AnimoAcid: |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 303 | Substitutions | Genomic: g.2168G>A CDS: c.141+1G>A AnimoAcid: |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 304 | Substitutions | Genomic: g.11951A>G CDS: c.253-8A>G AnimoAcid: |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 305 | Substitutions | Genomic: g.3589G>C CDS: c.252+2G>C AnimoAcid: |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 306 | Substitutions | Genomic: g.13796T>C CDS: c.483+2T>C AnimoAcid: |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 307 | Substitutions | Genomic: g.13795G>T CDS: c.483+1G>T AnimoAcid: |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 308 | Substitutions | Genomic: g.13799G>A CDS: c.483+5G>A AnimoAcid: |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 309 | Deletion | Genomic: g.16128_16131delGAGT CDS: c.674+3_674+6delGAGT AnimoAcid: |
Deletion | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 310 | Substitutions | Genomic: g.16131T>A CDS: c.674+6T>A AnimoAcid: |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 311 | Substitutions | Genomic: g.21239G>A CDS: c.805-1G>A AnimoAcid: |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 312 | Substitutions | Genomic: g.26370G>C CDS: c.1315-1G>C AnimoAcid: |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 313 | Substitutions | Genomic: g.25153G>A CDS: c.1314+1G>A AnimoAcid: |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 314 | Deletion | Genomic: g.23906_23908delAAG CDS: c.943_945delAAG AnimoAcid: p.Lys315del |
Deletion | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 315 | Deletion | Genomic: g.24113_24116del CDS: c.1150_1151+2del AnimoAcid: |
Deletion | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 316 | Deletion | Genomic: g.13793_13798del CDS: c.482_483+4del AnimoAcid: |
Deletion | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 317 | Deletion | Genomic: g.30776_30898del CDS: c.1588_1710del AnimoAcid: p.Thr530_Phe570del |
Deletion | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 318 | Substitutions | Genomic: g.11947A>G CDS: c.253-8A>G AnimoAcid: |
Substitutions | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 319 | Deletion | Genomic: g.(26371-?)_30901+?del CDS: c.1315-?_1713+?del AnimoAcid: p.Ile439_Phe570del |
Deletion | Direct sequencing, SSCP |
Rae J et al., 1998 |
| 320 | Substitutions | Genomic: g.2109G>A CDS: c.83G>A AnimoAcid: p.Trp28X |
Substitutions | Denaturing HPLC, Direct sequencing |
Di Matteo G et al., 2009 |
| 321 | Substitutions | Genomic: g.2153A>T CDS: c.127A>T AnimoAcid: p.Arg43X |
Substitutions | Denaturing HPLC, Direct sequencing |
Di Matteo G et al., 2009 |
| 322 | Substitutions | Genomic: g.13699C>T CDS: c.388C>T AnimoAcid: p.Arg130X |
Substitutions | Denaturing HPLC, Direct sequencing |
Di Matteo G et al., 2009 |
| 323 | Substitutions | Genomic: g.13780C>T CDS: c.469C>T AnimoAcid: p.Arg157X |
Substitutions | Denaturing HPLC, Direct sequencing |
Di Matteo G et al., 2009 |
| 324 | Substitutions | Genomic: g.18955C>T CDS: c.691C>T AnimoAcid: p.Gln231X |
Substitutions | Denaturing HPLC, Direct sequencing |
Di Matteo G et al., 2009 |
| 325 | Substitutions | Genomic: g.21303G>T CDS: c.868C>T AnimoAcid: p.Arg290X |
Substitutions | Denaturing HPLC, Direct sequencing |
Di Matteo G et al., 2009 |
| 326 | Substitutions | Genomic: g.23969G>T CDS: c.1006G>T AnimoAcid: p.Glu336X |
Substitutions | Denaturing HPLC, Direct sequencing |
Di Matteo G et al., 2009 |
| 327 | Substitutions | Genomic: g.24086G>T CDS: c.1123G>T AnimoAcid: p.Glu375X |
Substitutions | Denaturing HPLC, Direct sequencing |
Di Matteo G et al., 2009 |
| 328 | Substitutions | Genomic: g.62A>G CDS: c.1A>G AnimoAcid: p.Met1Val |
Substitutions | Denaturing HPLC, Direct sequencing |
Di Matteo G et al., 2009 |
| 329 | Substitutions | Genomic: g.2084G>A CDS: c.58G>A AnimoAcid: p.Gly20Arg |
Substitutions | Denaturing HPLC, Direct sequencing |
Di Matteo G et al., 2009 |
| 330 | Substitutions | Genomic: g.23888G>A CDS: c.925G>A AnimoAcid: p.Glu309Lys |
Substitutions | Denaturing HPLC, Direct sequencing |
Di Matteo G et al., 2009 |
| 331 | Substitutions | Genomic: g.24039G>C CDS: c.1076G>C AnimoAcid: p.Gly359Ala |
Substitutions | Denaturing HPLC, Direct sequencing |
Di Matteo G et al., 2009 |
| 332 | Substitutions | Genomic: g.26413T>A CDS: c.1357T>A AnimoAcid: p.Trp453Arg |
Substitutions | Denaturing HPLC, Direct sequencing |
Di Matteo G et al., 2009 |
| 333 | Deletion | Genomic: g.3516delT CDS: c.184delT AnimoAcid: p.Phe62SerfsX5 |
Deletion | Denaturing HPLC, Direct sequencing |
Di Matteo G et al., 2009 |
| 334 | Deletion | Genomic: g.15835_16416del CDS: c.484-100_674+291del AnimoAcid: p.Asn162_Glu225del |
Deletion | Denaturing HPLC, Direct sequencing |
Di Matteo G et al., 2009 |
| 335 | Deletion | Genomic: g.18940+?_19068+?del CDS: c.674+?_804+?del AnimoAcid: p.Arg226_Met268del |
Deletion | Denaturing HPLC, Direct sequencing |
Di Matteo G et al., 2009 |
| 336 | Deletion | Genomic: g.19019delG CDS: c.755delG AnimoAcid: p.Gly252GlufsX3 |
Deletion | Denaturing HPLC, Direct sequencing |
Di Matteo G et al., 2009 |
| 337 | Deletion | Genomic: g.62+?_3584+?del CDS: c.1+?_252+?del AnimoAcid: p.Met1_Ala84del |
Deletion | Denaturing HPLC, Direct sequencing |
Di Matteo G et al., 2009 |
| 338 | Duplications | Genomic: g.103_106dupCATT CDS: c.42_45dupCATT AnimoAcid: p.Leu16HisfsX20 |
Duplications | Denaturing HPLC, Direct sequencing |
Di Matteo G et al., 2009 |
| 339 | Substitutions | Genomic: g.2172G>T CDS: c.141+5G>T AnimoAcid: p.Leu16_Gly47del |
Substitutions | Denaturing HPLC, Direct sequencing, PCR based assay |
Di Matteo G et al., 2009 |
| 340 | Substitutions | Genomic: g.3473G>A CDS: c.142-1G>A AnimoAcid: p.Ser48_Ala84del |
Substitutions | Denaturing HPLC, Direct sequencing, PCR based assay |
Di Matteo G et al., 2009 |
| 341 | Substitutions | Genomic: g.3584G>A CDS: c.252G>A AnimoAcid: p.Ser48_Ala84del |
Substitutions | Denaturing HPLC, Direct sequencing, PCR based assay |
Di Matteo G et al., 2009 |
| 342 | Substitutions | Genomic: g.14772G>T CDS: c.483+978G>T AnimoAcid: |
Substitutions | SSCP |
Noack D et al., 2001 |
| 343 | Insertion | Genomic: g.13794+?_15935-?ins957 CDS: c.483+?_?-484ins957 AnimoAcid: |
Insertion | PCR based assay |
Meischl C et al., 2000 |
| 344 | Substitutions | Genomic: g.17205A>G CDS: c.674+1080A>G AnimoAcid: |
Substitutions | PCR based assay, SSCP |
Noack D et al., 1999 |
| 345 | Substitutions | Genomic: g.17782G>A CDS: c.675-1157G>A AnimoAcid: p.Glu225AspfsX2 |
Substitutions | Fluorescent sequencing, PCR based assay |
Rump A et al., 2006 |
| 346 | Deletion-Insertion | Genomic: g.29610_29614delAAAGAinsCATCTGGG CDS: c.1521_1525delAAAGAinsCATCTGGG AnimoAcid: p.Gln507_Thr509delinsHisIleTrpAla |
Deletion-Insertion | Dideoxy fingerprinting |
Azuma H et al., 1995 |
| 347 | Insertion | Genomic: c.-67_-66insT CDS: AnimoAcid: |
Insertion | Direct sequencing, PCR based assay |
Defendi F et al., 2009 |
| 348 | Insertion | Genomic: g.25092_25093insA CDS: c.1254_1255insA AnimoAcid: p.Ile419AsnfsX12 |
Insertion | SSCP |
Agudelo-Florez P et al., 2006 |
| 349 | Substitutions | Genomic: g.25153G>A CDS: c.1314+1G>A AnimoAcid: |
Substitutions | SSCP |
Agudelo-Florez P et al., 2006 |
| 350 | Substitutions | Genomic: g.3584G>A CDS: c.252G>A AnimoAcid: |
Substitutions | Direct sequencing |
Brunner J et al., 2007 |
| 351 | Substitutions | Genomic: g.18956A>C CDS: c.692A>C AnimoAcid: p.Gln231Pro |
Substitutions | Direct sequencing |
Bustamante J et al., 2011 |
| 352 | Substitutions | Genomic: g.15983A>C CDS: c.532A>C AnimoAcid: p.Thr178Pro |
Substitutions | Direct sequencing |
Bustamante J et al., 2011 |
| 353 | Substitutions | Genomic: g.16129A>G CDS: c.674+4A>G AnimoAcid: |
Substitutions | Direct sequencing |
Perez-Aradas V et al., 2011 |
| 354 | Substitutions | Genomic: c.-67T>C CDS: AnimoAcid: |
Substitutions | Direct sequencing |
Stasia MJ et al., 2003 |
| 355 | Insertion | Genomic: g.67_68insG CDS: c.6_7insG AnimoAcid: p.Asn3GlufsX6 |
Insertion | Direct sequencing |
Vieira AP et al., 2004 |
| 356 | Deletion | Genomic: g.(62-?)_3584+?del CDS: c.(1-?)_252+?del AnimoAcid: |
Deletion | Southern blotting |
Jurkowska M et al., 2004 |
| 357 | Substitutions | Genomic: g.3584G>A CDS: c.252G>A AnimoAcid: p.Ser48_Ala84del |
Substitutions | Direct sequencing |
Jurkowska M et al., 2004 |
| 358 | Substitutions | Genomic: g.29587G>T CDS: c.1498G>T AnimoAcid: p.Asp500Tyr |
Substitutions | Direct sequencing |
Jurkowska M et al., 2004 |
| 359 | Deletion | Genomic: g.29667delA CDS: c.1578delA AnimoAcid: p.Gln526HisfsX7 |
Deletion | Direct sequencing |
Jurkowska M et al., 2004 |
| 360 | Substitutions | Genomic: c.-67T>C CDS: AnimoAcid: |
Substitutions | SSCP |
Newburger PE et al., 1994 |
| 361 | Substitutions | Genomic: c.-69A>C CDS: AnimoAcid: |
Substitutions | SSCP |
Newburger PE et al., 1994 |
| 362 | Substitutions | Genomic: c.-65C>T CDS: AnimoAcid: |
Substitutions | Direct sequencing |
Suzuki S et al., 1998 |
| 363 | Substitutions | Genomic: c.-64C>T CDS: AnimoAcid: |
Substitutions | Direct sequencing |
Suzuki S et al., 1998 |
| 364 | Substitutions | Genomic: g.18964G>T CDS: c.700G>T AnimoAcid: p.Glu234X |
Substitutions | Direct sequencing |
Koker MY et al., 2007 |
| 365 | Substitutions | Genomic: g.19000C>T CDS: c.736C>T AnimoAcid: p.Gln246X |
Substitutions | Direct sequencing |
Koker MY et al., 2007 |
| 366 | Substitutions | Genomic: g.25082C>A CDS: c.1244C>A AnimoAcid: p.Pro415His |
Substitutions | Dideoxy fingerprinting, Northern blotting |
Dinauer MC et al., 1989 |
| 367 | Substitutions | Genomic: g.18940C>T CDS: c.676C>T AnimoAcid: p.Arg226X |
Substitutions | PCR based assay, SSCP |
Newburger PE et al., 1994 |
| 368 | Substitutions | Genomic: g.23870C>T CDS: c.907C>T AnimoAcid: p.His303Tyr |
Substitutions | Direct sequencing |
Isman-Nelkenbaum G et al., 2011 |
| 369 | Deletion-Insertion | Genomic: g.25002_25004delinsATC CDS: c.1164_1166delinsATC AnimoAcid: p.Asp388_Gly389delinsGluSer |
Deletion-Insertion | Direct sequencing |
Naidoo R et al., 2011 |
| 370 | Deletion, Insertion | Genomic: g.25018_25020delins15 CDS: c.1180_1182delins15 AnimoAcid: p.Ala394delinsMetfs |
Deletion, Insertion | PCR based assay |
Ariga T et al., 1995 |
| 371 | Substitutions | Genomic: c.-64C>T CDS: AnimoAcid: |
Substitutions | Direct sequencing |
Weening RS et al., 2000 |
| 372 | Substitutions | Genomic: c.-65C>T CDS: AnimoAcid: |
Substitutions | Direct sequencing |
Weening RS et al., 2000 |
| 373 | Substitutions | Genomic: g.2071G>T CDS: c.46-1G>T AnimoAcid: p.Leu16_Gly47del |
Substitutions | Direct sequencing |
Martel C et al., 2012 |
| 374 | Substitutions | Genomic: g.3475C>G CDS: c.143C>G AnimoAcid: p.Ser48X |
Substitutions | Direct sequencing |
Martel C et al., 2012 |
| 375 | Substitutions | Genomic: g.2168G>A CDS: c.141+1G>A AnimoAcid: p.Leu16_Gly47del |
Substitutions | Direct sequencing |
Martel C et al., 2012 |
| 376 | Substitutions | Genomic: g.13780C>T CDS: c.469C>T AnimoAcid: p.Arg157X |
Substitutions | Direct sequencing |
Martel C et al., 2012 |
| 377 | Substitutions | Genomic: g.15944G>T CDS: c.493G>T AnimoAcid: p.Gly165X |
Substitutions | Direct sequencing |
Martel C et al., 2012 |
| 378 | Substitutions | Genomic: g.16076C>G CDS: c.625C>G AnimoAcid: p.His209Asp |
Substitutions | Direct sequencing |
Martel C et al., 2012 |
| 379 | Substitutions | Genomic: g.29597C>T CDS: c.1508C>T AnimoAcid: p.Thr503Ile |
Substitutions | Direct sequencing |
Martel C et al., 2012 |
| 380 | Substitutions | Genomic: g.16076C>T CDS: c.625C>T AnimoAcid: p.His209Tyr |
Substitutions | Direct sequencing |
Martel C et al., 2012 |
| 381 | Deletion | Genomic: g.16129delAGTG CDS: c.674+4_674+7delAGTG AnimoAcid: p.Asn162_Glu225del |
Deletion | Direct sequencing |
Martel C et al., 2012 |
| 382 | Substitutions | Genomic: g.18955C>T CDS: c.691C>T AnimoAcid: p.Gln231X |
Substitutions | Direct sequencing |
Martel C et al., 2012 |
| 383 | Substitutions | Genomic: g.19016G>A CDS: c.752G>A AnimoAcid: p.Trp251X |
Substitutions | Direct sequencing |
Martel C et al., 2012 |
| 384 | Substitutions | Genomic: g.21333G>A CDS: c.897+1G>A AnimoAcid: p.Thr269_Lys299del |
Substitutions | Direct sequencing |
Martel C et al., 2012 |
| 385 | Deletion-Insertion | Genomic: g.23987_23989delCTGinsT CDS: c.1024_1026delCTGinsT AnimoAcid: p.Leu342TyrfsX5 |
Deletion-Insertion | Direct sequencing |
Martel C et al., 2012 |
| 386 | Substitutions | Genomic: g.24039G>C CDS: c.1076G>C AnimoAcid: p.Gly359Ala |
Substitutions | Direct sequencing |
Martel C et al., 2012 |
| 387 | Substitutions | Genomic: g.25060G>A CDS: c.1222G>A AnimoAcid: p.Gly408Arg |
Substitutions | Direct sequencing |
Martel C et al., 2012 |
| 388 | Substitutions | Genomic: g.25082C>T CDS: c.1244C>T AnimoAcid: p.Pro415Leu |
Substitutions | Direct sequencing |
Martel C et al., 2012 |
| 389 | Insertion | Genomic: g.26429insT CDS: c.1373insT AnimoAcid: p.Gln459AlafsX27 |
Insertion | Direct sequencing |
Martel C et al., 2012 |
| 390 | Substitutions | Genomic: g.26518G>A CDS: c.1461+1G>A AnimoAcid: p.Ile439_Gln487del |
Substitutions | Direct sequencing |
Martel C et al., 2012 |
| 391 | Deletion | Genomic: g.(?_1)_(19068_?)del CDS: c.(?_-61)_(804_?)del AnimoAcid: |
Deletion | PCR based assay, Southern blotting |
Faizunnessa NN et al., 1997 |
| 392 | Deletion | Genomic: g.(?_1)_(33445_?)del CDS: c.(?_-61)_(*2544_?)del AnimoAcid: |
Deletion | Southern blotting |
de Saint-Basile G et al., 1988 |
| 393 | Substitutions | Genomic: g.16130G>A CDS: c.674+5G>A AnimoAcid: |
Substitutions | Direct sequencing |
Ahlin A et al., 1995 |
| 394 | Substitutions | Genomic: g.11977C>T CDS: c.271C>T AnimoAcid: p.Arg91X |
Substitutions | Direct sequencing |
Ahlin A et al., 1995 |
| 395 | Substitutions | Genomic: g.24068T>G CDS: c.1105T>G AnimoAcid: p.Cys369Gly |
Substitutions | Direct sequencing |
Ahlin A et al., 1995 |
| 396 | Substitutions | Genomic: g.13780C>T CDS: c.469C>T AnimoAcid: p.Arg157X |
Substitutions | Direct sequencing |
Ahlin A et al., 1995 |
| 397 | Deletion | Genomic: g.(?_1)_(33445_?)del CDS: c.(?_-61)_(*2544_?)del AnimoAcid: |
Deletion | Direct sequencing |
Ahlin A et al., 1995 |
| 398 | Duplications | Genomic: g.18915_18954dup40 CDS: c.675-24_690dup40 AnimoAcid: p.Gln231SerfsX23 |
Duplications | Direct sequencing |
Rabbani H et al., 1993 |