| SI.No | Mutation change | Expt Name | PubMed | ||
| 1 | Deletion | Genomic: g.24267_24270delATTG CDS: c.1036_1039delATTG AnimoAcid: p.Glu347fs |
Deletion | Direct sequencing, PCR based assay |
Birrell GW et al., 2005 |
| 2 | Substitutions | Genomic: g.89593G>T CDS: c.5932G>T AnimoAcid: p.Glu1978X |
Substitutions | Direct sequencing, PCR based assay |
Birrell GW et al., 2005 |
| 3 | Deletion | Genomic: g.70552_70557delTTTTAG CDS: c.4682_4687delTTTTAG AnimoAcid: p.Leu1561fs |
Deletion | Direct sequencing, PCR based assay |
Birrell GW et al., 2005 |
| 4 | Deletion | Genomic: g.66889_66890delAT CDS: c.4355_4356delAT AnimoAcid: p.Ile1453fs |
Deletion | Direct sequencing, PCR based assay |
Birrell GW et al., 2005 |
| 5 | Substitutions | Genomic: g.110007C>T CDS: c.7865C>T AnimoAcid: p.Ala2622Val |
Substitutions | Direct sequencing |
Aghamohammadi A et al., 2010 |
| 6 | Deletion | Genomic: g.66146_66198del52 CDS: c.4110_4162del52 AnimoAcid: p.Gly1370fs |
Deletion | Direct sequencing, PCR based assay |
Birrell GW et al., 2005 |
| 7 | Substitutions | Genomic: g.72096G>T CDS: c.4777G>T AnimoAcid: p.Glu1593X |
Substitutions | Direct sequencing, PCR based assay |
Birrell GW et al., 2005 |
| 8 | Substitutions | Genomic: g.12869T>A CDS: c.362T>A AnimoAcid: p.Leu121X |
Substitutions | Direct sequencing, PCR based assay |
Birrell GW et al., 2005 |
| 9 | Deletion-Insertion | Genomic: g.49982_49984delATCinsTGAT CDS: c.3245_3247delATCinsTGAT AnimoAcid: p.His1082fs |
Deletion-Insertion | Direct sequencing |
Stray-Pedersen A et al., 2007 |
| 10 | Substitutions | Genomic: g.103309A>C CDS: c.6890A>C AnimoAcid: p.Gln2297Pro |
Substitutions | Direct sequencing |
Stray-Pedersen A et al., 2007 |
| 11 | Deletion | Genomic: g.66146delG CDS: c.4110delG AnimoAcid: p.Asp1371fs |
Deletion | Direct sequencing |
Stray-Pedersen A et al., 2007 |
| 12 | Deletion | Genomic: g.122925delA CDS: c.8432delA AnimoAcid: p.Lys2811fs |
Deletion | Direct sequencing |
Stray-Pedersen A et al., 2007 |
| 13 | Deletion | Genomic: g.48437delA CDS: c.2939delA AnimoAcid: p.Tyr980fs |
Deletion | Direct sequencing |
Stray-Pedersen A et al., 2007 |
| 14 | Substitutions | Genomic: g.89593G>T CDS: c.5932G>T AnimoAcid: p.Glu1978X |
Substitutions | Direct sequencing |
Stray-Pedersen A et al., 2007 |
| 15 | Substitutions | Genomic: g.103257C>T CDS: c.6838C>T AnimoAcid: p.Gln2280X |
Substitutions | Direct sequencing |
Stray-Pedersen A et al., 2007 |
| 16 | Deletion | Genomic: g.48274delC CDS: c.2880delC AnimoAcid: p.Leu961fs |
Deletion | Direct sequencing |
Stray-Pedersen A et al., 2007 |
| 17 | Substitutions | Genomic: g.98590G>A CDS: c.6572+1G>A AnimoAcid: |
Substitutions | Direct sequencing, PCR based assay |
Birrell GW et al., 2005 |
| 18 | Duplications | Genomic: g.82011dupC CDS: c.5664dupC AnimoAcid: p.Asp1890GlyfsX14 |
Duplications | Direct sequencing, PCR based assay |
Birrell GW et al., 2005 |
| 19 | Deletion | Genomic: g.24268_24271delTTGA CDS: c.1037_1040delTTGA AnimoAcid: p.Ile346fs |
Deletion | PCR based assay, PCR based assay |
Birrell GW et al., 2005 |
| 20 | Deletion | Genomic: g.28197_28198delAG CDS: c.1563_1564delAG AnimoAcid: p.Glu522fs |
Deletion | Direct sequencing, PCR based assay |
Birrell GW et al., 2005 |
| 21 | Substitutions | Genomic: g.106408G>A CDS: c.7307+1G>A AnimoAcid: |
Substitutions | Direct sequencing, PCR based assay |
Birrell GW et al., 2005 |
| 22 | Substitutions | Genomic: g.4975C>T CDS: c.103C>T AnimoAcid: p.Arg35X |
Substitutions | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Gilad S et al., 1996 |
| 23 | Substitutions | Genomic: g.110017T>G CDS: c.7875T>G AnimoAcid: p.Asp2625Glu |
Substitutions | Direct sequencing, PCR based assay, Restriction enzyme analysis |
van Belzen MJ et al., 1998 |
| 24 | Substitutions | Genomic: g.110018G>C CDS: c.7876G>C AnimoAcid: p.Ala2626Pro |
Substitutions | Direct sequencing, PCR based assay, Restriction enzyme analysis |
van Belzen MJ et al., 1998 |
| 25 | Deletion | Genomic: g.142507_142508delAG CDS: c.9001_9002delAG AnimoAcid: p.Ser3001PhefsX5 |
Deletion | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Gilad S et al., 1996 |
| 26 | Duplications | Genomic: g.142347dupA CDS: c.8947dupA AnimoAcid: p.Thr2983AsnfsX5 |
Duplications | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Gilad S et al., 1996 |
| 27 | Substitutions | Genomic: g.120429G>A CDS: c.8307G>A AnimoAcid: p.Trp2769X |
Substitutions | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Gilad S et al., 1996 |
| 28 | Deletion | Genomic: g.120405_120406delTC CDS: c.8283_8284delTC AnimoAcid: p.Gln2762AlafsX5 |
Deletion | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Gilad S et al., 1996 |
| 29 | Substitutions | Genomic: g.112267C>T CDS: c.8140C>T AnimoAcid: p.Gln2714X |
Substitutions | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Gilad S et al., 1996 |
| 30 | Deletion | Genomic: g.110025_110029del CDS: c.7883_7887del AnimoAcid: p.Ile2629SerfsX24 |
Deletion | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Gilad S et al., 1996 |
| 31 | Deletion | Genomic: g.108614_108617delGAGA CDS: c.7517_7520delGAGA AnimoAcid: p.Arg2506ThrfsX2 |
Deletion | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Gilad S et al., 1996 |
| 32 | Deletion | Genomic: g.102479_102483del CDS: c.6573_6577del AnimoAcid: p.Arg2191SerfsX3 |
Deletion | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Gilad S et al., 1996 |
| 33 | Deletion | Genomic: g.89640_89644del CDS: c.5979_5983del AnimoAcid: p.Ser1993ArgfsX22 |
Deletion | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Gilad S et al., 1996 |
| 34 | Duplications | Genomic: g.85103dupA CDS: c.5712dupA AnimoAcid: p.Ser1905IlefsX24 |
Duplications | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Gilad S et al., 1996 |
| 35 | Deletion | Genomic: g.31197delT CDS: c.2113delT AnimoAcid: p.Tyr705ThrfsX29 |
Deletion | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Gilad S et al., 1996 |
| 36 | Deletion | Genomic: g.80022_80028del CDS: c.5320_5326del AnimoAcid: p.Phe1774LysfsX16 |
Deletion | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Gilad S et al., 1996 |
| 37 | Deletion | Genomic: g.34683_34684delCT CDS: c.2284_2285delCT AnimoAcid: p.Leu762ValfsX1 |
Deletion | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Gilad S et al., 1996 |
| 38 | Deletion | Genomic: g.81886_81896del CDS: c.5539_5549del AnimoAcid: p.His1847ThrfsX5 |
Deletion | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Gilad S et al., 1996 |
| 39 | Duplications | Genomic: g.81901dupC CDS: c.5554dupC AnimoAcid: p.Gln1852ProfsX4 |
Duplications | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Gilad S et al., 1996 |
| 40 | Substitutions | Genomic: g.27973C>T CDS: c.1339C>T AnimoAcid: p.Arg447X |
Substitutions | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Gilad S et al., 1996 |
| 41 | Substitutions | Genomic: g.27874C>T CDS: c.1240C>T AnimoAcid: p.Gln414X |
Substitutions | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Gilad S et al., 1996 |
| 42 | Deletion | Genomic: g.22049_22050delGT CDS: c.755_756delGT AnimoAcid: p.Cys252X |
Deletion | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Gilad S et al., 1996 |
| 43 | Deletion | Genomic: g.123071_123073delTCT CDS: c.8578_8580delTCT AnimoAcid: p.Ser2860del |
Deletion | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Gilad S et al., 1996 |
| 44 | Deletion | Genomic: g.109054_109062del CDS: c.7636_7644del AnimoAcid: p.Ser2546_Ile2548del |
Deletion | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Gilad S et al., 1996 |
| 45 | Deletion | Genomic: g.106376_106381del CDS: c.7276_7281del AnimoAcid: p.Leu2426_Leu2427del |
Deletion | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Gilad S et al., 1996 |
| 46 | Substitutions | Genomic: g.130974A>G CDS: c.8711A>G AnimoAcid: p.Glu2904Gly |
Substitutions | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Gilad S et al., 1996 |
| 47 | Substitutions | Genomic: g.4795T>C CDS: c.2T>C AnimoAcid: p.Met1Thr |
Substitutions | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Gilad S et al., 1996 |
| 48 | Deletion | Genomic: g.4819delT CDS: c.26delT AnimoAcid: p.Ile10SerfsX5 |
Deletion | Direct sequencing |
Sandoval N et al., 1999 |
| 49 | Substitutions | Genomic: g.4867T>C CDS: c.72+2T>C AnimoAcid: |
Substitutions | Direct sequencing |
Sandoval N et al., 1999 |
| 50 | Substitutions | Genomic: g.21138C>G CDS: c.513C>G AnimoAcid: p.Tyr171X |
Substitutions | Direct sequencing |
Sandoval N et al., 1999 |
| 51 | Deletion | Genomic: g.22082delT CDS: c.788delT AnimoAcid: p.Tyr264IlefsX11 |
Deletion | Direct sequencing |
Sandoval N et al., 1999 |
| 52 | Deletion | Genomic: g.28195_28196delAG CDS: c.1561_1562delAG AnimoAcid: p.Glu522IlefsX42 |
Deletion | Direct sequencing |
Sandoval N et al., 1999 |
| 53 | Substitutions | Genomic: g.29107T>C CDS: c.1709T>C AnimoAcid: p.Phe570Ser |
Substitutions | Direct sequencing |
Sandoval N et al., 1999 |
| 54 | Substitutions | Genomic: g.34752C>T CDS: c.2353C>T AnimoAcid: p.Arg785Cys |
Substitutions | Direct sequencing |
Sandoval N et al., 1999 |
| 55 | Duplications | Genomic: g.44375dupA CDS: c.2502dupA AnimoAcid: p.Val835SerfsX6 |
Duplications | Direct sequencing |
Sandoval N et al., 1999 |
| 56 | Deletion-Insertion | Genomic: g.44438delGins21 CDS: c.2565delGins21 AnimoAcid: p.Met855IlefsX31 |
Deletion-Insertion | Direct sequencing |
Sandoval N et al., 1999 |
| 57 | Substitutions | Genomic: g.48318A>T CDS: c.2921+3A>T AnimoAcid: |
Substitutions | Direct sequencing |
Sandoval N et al., 1999 |
| 58 | Deletion | Genomic: g.61498delA CDS: c.3849delA AnimoAcid: p.Thr1284GlnfsX8 |
Deletion | Direct sequencing |
Sandoval N et al., 1999 |
| 59 | Deletion | Genomic: g.64826delT CDS: c.4051delT AnimoAcid: p.Leu1351TyrfsX34 |
Deletion | Direct sequencing |
Sandoval N et al., 1999 |
| 60 | Duplications | Genomic: g.66179dupT CDS: c.4143dupT AnimoAcid: p.Pro1382SerfsX5 |
Duplications | Direct sequencing |
Sandoval N et al., 1999 |
| 61 | Deletion | Genomic: g.70500_70503del4 CDS: c.4630_4633del4 AnimoAcid: p.Tyr1544X |
Deletion | Direct sequencing |
Sandoval N et al., 1999 |
| 62 | Substitutions | Genomic: g.72229G>A CDS: c.4909+1G>A AnimoAcid: |
Substitutions | Direct sequencing |
Sandoval N et al., 1999 |
| 63 | Deletion | Genomic: g.78948delC CDS: c.5309delC AnimoAcid: p.Ser1770X |
Deletion | Direct sequencing |
Sandoval N et al., 1999 |
| 64 | Duplications | Genomic: g.80143dupT CDS: c.5441dupT AnimoAcid: p.Leu1814PhefsX8 |
Duplications | Direct sequencing |
Sandoval N et al., 1999 |
| 65 | Deletion | Genomic: g.81893delT CDS: c.5546delT AnimoAcid: p.Leu1850TyrfsX66 |
Deletion | Direct sequencing |
Sandoval N et al., 1999 |
| 66 | Substitutions | Genomic: g.85129T>G CDS: c.5738T>G AnimoAcid: p.Val1913Gly |
Substitutions | Direct sequencing |
Sandoval N et al., 1999 |
| 67 | Deletion | Genomic: g.87442delA CDS: c.5876delA AnimoAcid: p.Ile1960SerfsX29 |
Deletion | Direct sequencing |
Sandoval N et al., 1999 |
| 68 | Substitutions | Genomic: g.89593G>T CDS: c.5932G>T AnimoAcid: p.Glu1978X |
Substitutions | Direct sequencing |
Sandoval N et al., 1999 |
| 69 | Duplications | Genomic: g.89638dupA CDS: c.5977dupA AnimoAcid: p.Ser1993LysfsX1 |
Duplications | Direct sequencing |
Sandoval N et al., 1999 |
| 70 | Substitutions | Genomic: g.93025G>T CDS: c.6040G>T AnimoAcid: p.Glu2014X |
Substitutions | Direct sequencing |
Sandoval N et al., 1999 |
| 71 | Substitutions | Genomic: g.93032A>G CDS: c.6047A>G AnimoAcid: p.Asp2016Gly |
Substitutions | Direct sequencing |
Sandoval N et al., 1999 |
| 72 | Substitutions | Genomic: g.93080G>A CDS: c.6095G>A AnimoAcid: p.Arg2032Lys |
Substitutions | Direct sequencing |
Sandoval N et al., 1999 |
| 73 | Substitutions | Genomic: g.109046A>C CDS: c.7630-2A>C AnimoAcid: |
Substitutions | Direct sequencing |
Sandoval N et al., 1999 |
| 74 | Substitutions | Genomic: g.107483T>G CDS: c.7408T>G AnimoAcid: p.Tyr2470Asp |
Substitutions | Direct sequencing |
Sandoval N et al., 1999 |
| 75 | Substitutions | Genomic: g.107402C>T CDS: c.7327C>T AnimoAcid: p.Arg2443X |
Substitutions | Direct sequencing |
Sandoval N et al., 1999 |
| 76 | Duplications | Genomic: g.103286dupT CDS: c.6867dupT AnimoAcid: p.Glu2290X |
Duplications | Direct sequencing |
Sandoval N et al., 1999 |
| 77 | Substitutions | Genomic: g.102585C>T CDS: c.6679C>T AnimoAcid: p.Arg2227Cys |
Substitutions | Direct sequencing |
Sandoval N et al., 1999 |
| 78 | Substitutions | Genomic: g.94543C>A CDS: c.6200C>A AnimoAcid: p.Ala2067Asp |
Substitutions | Direct sequencing |
Sandoval N et al., 1999 |
| 79 | Deletion | Genomic: g.93171_93175del CDS: c.6096-9_6096-5del AnimoAcid: |
Deletion | Direct sequencing |
Sandoval N et al., 1999 |
| 80 | Deletion | Genomic: g.109086_109089delTTTG CDS: c.7668_7671delTTTG AnimoAcid: p.Phe2558LeufsX4 |
Deletion | Direct sequencing |
Sandoval N et al., 1999 |
| 81 | Deletion | Genomic: g.111111_111113del CDS: c.7984_7986del AnimoAcid: p.Val2662del |
Deletion | Direct sequencing |
Sandoval N et al., 1999 |
| 82 | Deletion | Genomic: g.120507_120516del10 CDS: c.8385_8394del10 AnimoAcid: p.Phe2799LysfsX3 |
Deletion | Direct sequencing |
Sandoval N et al., 1999 |
| 83 | Substitutions | Genomic: g.123039G>C CDS: c.8546G>C AnimoAcid: p.Arg2849Pro |
Substitutions | Direct sequencing |
Sandoval N et al., 1999 |
| 84 | Substitutions | Genomic: g.124462G>C CDS: c.8599G>C AnimoAcid: p.Gly2867Arg |
Substitutions | Direct sequencing |
Sandoval N et al., 1999 |
| 85 | Substitutions | Genomic: g.131979G>T CDS: c.8787-1G>T AnimoAcid: |
Substitutions | Direct sequencing |
Sandoval N et al., 1999 |
| 86 | Substitutions | Genomic: g.131986T>A CDS: c.8793T>A AnimoAcid: p.Cys2931X |
Substitutions | Direct sequencing |
Sandoval N et al., 1999 |
| 87 | Deletion | Genomic: g.132007_132017del11 CDS: c.8814_8824del11 AnimoAcid: p.Met2938IlefsX13 |
Deletion | Direct sequencing |
Sandoval N et al., 1999 |
| 88 | Deletion-Insertion | Genomic: g.130983delCinsTT CDS: c.8720delCinsTT AnimoAcid: p.Pro2907LeufsX2 |
Deletion-Insertion | Direct sequencing |
Sandoval N et al., 1999 |
| 89 | Deletion | Genomic: g.28195_28196delAG CDS: c.1561_1562delAG AnimoAcid: p.Glu522IlefsX42 |
Deletion | Direct sequencing, SSCP |
Wright J et al., 1996 |
| 90 | Deletion | Genomic: g.34650_34668del19 CDS: c.2251_2269del19 AnimoAcid: p.Ser751GlufsX19 |
Deletion | Direct sequencing, SSCP |
Wright J et al., 1996 |
| 91 | Substitutions | Genomic: g.4795T>C CDS: c.2T>C AnimoAcid: p.Met1Thr |
Substitutions | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 92 | Deletion | Genomic: g.5008_5011del CDS: c.136_139del AnimoAcid: p.His46GlnfsX8 |
Deletion | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 93 | Substitutions | Genomic: g.142645C>T CDS: c.9139C>T AnimoAcid: p.Arg3047X |
Substitutions | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 94 | Substitutions | Genomic: g.122973T>G CDS: c.8480T>G AnimoAcid: p.Phe2827Cys |
Substitutions | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 95 | Deletion | Genomic: g.120527delA CDS: c.8405delA AnimoAcid: p.Lys2803ArgfsX2 |
Deletion | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 96 | Deletion | Genomic: g.113068_113069delAA CDS: c.8206_8207delAA AnimoAcid: p.Asn2736TyrfsX9 |
Deletion | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 97 | Substitutions | Genomic: g.112225A>T CDS: c.8098A>T AnimoAcid: p.Lys2700X |
Substitutions | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 98 | Substitutions | Genomic: g.111130A>G CDS: c.8003A>G AnimoAcid: p.Glu2668Gly |
Substitutions | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 99 | Deletion | Genomic: g.109971_109972delGA CDS: c.7829_7830delGA AnimoAcid: p.Arg2610LysfsX1 |
Deletion | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 100 | Substitutions | Genomic: g.109078C>G CDS: c.7660C>G AnimoAcid: p.His2554Asp |
Substitutions | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 101 | Deletion | Genomic: g.109054_109062del CDS: c.7636_7644del AnimoAcid: p.Ser2546_Ile2548del |
Deletion | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 102 | Deletion | Genomic: g.106379_106384del CDS: c.7279_7284del AnimoAcid: p.Leu2427_Arg2428del |
Deletion | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 103 | Substitutions | Genomic: g.106371T>G CDS: c.7271T>G AnimoAcid: p.Val2424Gly |
Substitutions | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 104 | Duplications | Genomic: g.104835dupA CDS: c.6997dupA AnimoAcid: p.Thr2333AsnfsX39 |
Duplications | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 105 | Duplications | Genomic: g.104827dupT CDS: c.6989dupT AnimoAcid: p.Leu2330ThrfsX40 |
Duplications | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 106 | Deletion | Genomic: g.103335_103336delAG CDS: c.6916_6917delAG AnimoAcid: p.Leu2307CysfsX65 |
Deletion | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 107 | Deletion | Genomic: g.97189_97190delAG CDS: c.6414_6415delAG AnimoAcid: p.Glu2139IlefsX5 |
Deletion | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 108 | Deletion | Genomic: g.93041delA CDS: c.6056delA AnimoAcid: p.Tyr2019LeufsX27 |
Deletion | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 109 | Deletion | Genomic: g.87476delA CDS: c.5910delA AnimoAcid: p.Glu1971ArgfsX18 |
Deletion | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 110 | Deletion | Genomic: g.80068delT CDS: c.5366delT AnimoAcid: p.Leu1789ArgfsX3 |
Deletion | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 111 | Substitutions | Genomic: g.78867C>T CDS: c.5228C>T AnimoAcid: p.Thr1743Ile |
Substitutions | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 112 | Substitutions | Genomic: g.76948A>C CDS: c.5071A>C AnimoAcid: p.Ser1691Arg |
Substitutions | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 113 | Deletion | Genomic: g.66922delT CDS: c.4388delT AnimoAcid: p.Phe1463LeufsX9 |
Deletion | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 114 | Deletion | Genomic: g.61505delT CDS: c.3856delT AnimoAcid: p.Cys1286AlafsX6 |
Deletion | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 115 | Deletion | Genomic: g.61451delG CDS: c.3802delG AnimoAcid: p.Val1268X |
Deletion | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 116 | Substitutions | Genomic: g.48500T>A CDS: c.3002T>A AnimoAcid: p.Leu1001Gln |
Substitutions | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 117 | Substitutions | Genomic: g.34701A>G CDS: c.2302A>G AnimoAcid: p.Asn768Asp |
Substitutions | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 118 | Deletion | Genomic: g.34683_34684delCT CDS: c.2284_2285delCT AnimoAcid: p.Leu762ValfsX1 |
Deletion | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 119 | Deletion | Genomic: g.29180delA CDS: c.1782delA AnimoAcid: p.Val595CysfsX18 |
Deletion | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 120 | Deletion | Genomic: g.28195_28196delAG CDS: c.1561_1562delAG AnimoAcid: p.Glu522IlefsX42 |
Deletion | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 121 | Deletion | Genomic: g.27989delC CDS: c.1355delC AnimoAcid: p.Thr452AsnfsX20 |
Deletion | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 122 | Deletion | Genomic: g.27924_27925delTG CDS: c.1290_1291delTG AnimoAcid: p.Cys430X |
Deletion | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 123 | Substitutions | Genomic: g.22169C>T CDS: c.875C>T AnimoAcid: p.Pro292Leu |
Substitutions | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 124 | Deletion | Genomic: g.22116delT CDS: c.822delT AnimoAcid: p.Leu275X |
Deletion | Direct sequencing, Heteroduplex analysis, PCR based assay, Restriction enzyme analysis |
Stankovic T et al., 1998 |
| 125 | Deletion | Genomic: g.110025_110029del CDS: c.7883_7887del AnimoAcid: p.Ile2629SerfsX24 |
Deletion | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Ejima Y et al., 1998 |
| 126 | Deletion | Genomic: g.70519delA CDS: c.4649delA AnimoAcid: p.Lys1550ArgfsX12 |
Deletion | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Ejima Y et al., 1998 |
| 127 | Substitutions | Genomic: g.70648T>A CDS: c.4776+2T>A AnimoAcid: |
Substitutions | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Ejima Y et al., 1998 |
| 128 | Deletion-Insertion | Genomic: g.49982_49984delATCinsTGAT CDS: c.3245_3247delATCinsTGAT AnimoAcid: p.His1082LeufsX13 |
Deletion-Insertion | Denaturing gradient gel electrophoresis, Direct sequencing |
Laake K et al., 1998 |
| 129 | Deletion | Genomic: g.28036_28037delAA CDS: c.1402_1403delAA AnimoAcid: p.Lys468GlufsX18 |
Deletion | Direct sequencing, Restriction enzyme analysis |
Broeks A et al., 1998 |
| 130 | Deletion | Genomic: g.28195_28196delAG CDS: c.1561_1562delAG AnimoAcid: p.Glu522IlefsX42 |
Deletion | Direct sequencing, Restriction enzyme analysis |
Broeks A et al., 1998 |
| 131 | Substitutions | Genomic: g.108639T>G CDS: c.7542T>G AnimoAcid: p.Tyr2514X |
Substitutions | Direct sequencing |
Broeks A et al., 1998 |
| 132 | Substitutions | Genomic: g.108639T>A CDS: c.7542T>A AnimoAcid: p.Tyr2514X |
Substitutions | Direct sequencing |
Broeks A et al., 1998 |
| 133 | Substitutions | Genomic: g.120495C>A CDS: c.8373C>A AnimoAcid: p.Tyr2791X |
Substitutions | Direct sequencing |
Broeks A et al., 1998 |
| 134 | Substitutions | Genomic: g.81862C>T CDS: c.5515C>T AnimoAcid: p.Gln1839X |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Broeks A et al., 1998 |
| 135 | Substitutions | Genomic: g.70567C>G CDS: c.4697C>G AnimoAcid: p.Pro1566Arg |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Broeks A et al., 1998 |
| 136 | Deletion | Genomic: g.22035delT CDS: c.741delT AnimoAcid: p.Arg248GlufsX6 |
Deletion | Direct sequencing, Restriction enzyme analysis |
Broeks A et al., 1998 |
| 137 | Substitutions | Genomic: g.142525G>T CDS: c.9019G>T AnimoAcid: p.Glu3007X |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Broeks A et al., 1998 |
| 138 | Substitutions | Genomic: g.44445T>C CDS: c.2572T>C AnimoAcid: p.Phe858Leu |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Broeks A et al., 1998 |
| 139 | Substitutions | Genomic: g.49898C>G CDS: c.3161C>G AnimoAcid: p.Pro1054Arg |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Broeks A et al., 1998 |
| 140 | Substitutions | Genomic: g.50010G>T CDS: c.3273G>T AnimoAcid: p.Glu1091Asp |
Substitutions | Direct sequencing, Restriction enzyme analysis |
Broeks A et al., 1998 |
| 141 | Deletion | Genomic: g.24255_24258delAAAG CDS: c.1024_1027delAAAG AnimoAcid: p.Glu343IlefsX1 |
Deletion | Direct sequencing, SSCP |
Teraoka SN et al., 1999 |
| 142 | Deletion | Genomic: g.26215_26216delGG CDS: c.1179_1180delGG AnimoAcid: p.Trp393X |
Deletion | Direct sequencing, SSCP |
Teraoka SN et al., 1999 |
| 143 | Deletion | Genomic: g.28197_28198delAG CDS: c.1563_1564delAG AnimoAcid: p.Glu522IlefsX42 |
Deletion | Direct sequencing, SSCP |
Teraoka SN et al., 1999 |
| 144 | Duplications | Genomic: g.44375dupA CDS: c.2502dupA AnimoAcid: p.Val835SerfsX6 |
Duplications | Direct sequencing, SSCP |
Teraoka SN et al., 1999 |
| 145 | Substitutions | Genomic: g.56747C>G CDS: c.3372C>G AnimoAcid: p.Tyr1124X |
Substitutions | Direct sequencing, SSCP |
Teraoka SN et al., 1999 |
| 146 | Deletion | Genomic: g.59927_59928delTT CDS: c.3625_3626delTT AnimoAcid: p.Phe1209TyrfsX18 |
Deletion | Direct sequencing, SSCP |
Teraoka SN et al., 1999 |
| 147 | Substitutions | Genomic: g.59965G>A CDS: c.3663G>A AnimoAcid: p.Trp1221X |
Substitutions | Direct sequencing, SSCP |
Teraoka SN et al., 1999 |
| 148 | Deletion | Genomic: g.61451delG CDS: c.3802delG AnimoAcid: p.Val1268X |
Deletion | Direct sequencing, SSCP |
Teraoka SN et al., 1999 |
| 149 | Duplications | Genomic: g.61543dupT CDS: c.3894dupT AnimoAcid: p.Ala1299CysfsX2 |
Duplications | Direct sequencing, SSCP |
Teraoka SN et al., 1999 |
| 150 | Deletion | Genomic: g.64827delT CDS: c.4052delT AnimoAcid: p.Leu1351TyrfsX34 |
Deletion | Direct sequencing, SSCP |
Teraoka SN et al., 1999 |
| 151 | Deletion | Genomic: g.66907delG CDS: c.4373delG AnimoAcid: p.Gly1458GlufsX14 |
Deletion | Direct sequencing, SSCP |
Teraoka SN et al., 1999 |
| 152 | Deletion | Genomic: g.78929delC CDS: c.5290delC AnimoAcid: p.Leu1764TyrfsX11 |
Deletion | Direct sequencing, SSCP |
Teraoka SN et al., 1999 |
| 153 | Substitutions | Genomic: g.81970C>T CDS: c.5623C>T AnimoAcid: p.Arg1875X |
Substitutions | Direct sequencing, SSCP |
Teraoka SN et al., 1999 |
| 154 | Insertion | Genomic: g.97179_97180insTT CDS: c.6404_6405insTT AnimoAcid: p.Arg2136X |
Insertion | Direct sequencing, SSCP |
Teraoka SN et al., 1999 |
| 155 | Deletion | Genomic: g.109123_109124delGA CDS: c.7705_7706delGA AnimoAcid: p.Asp2569X |
Deletion | Direct sequencing, SSCP |
Teraoka SN et al., 1999 |
| 156 | Duplications | Genomic: g.131032dupT CDS: c.8769dupT AnimoAcid: p.Glu2924X |
Duplications | Direct sequencing, SSCP |
Teraoka SN et al., 1999 |
| 157 | Deletion | Genomic: g.120517_120527del10 CDS: c.8395_8404del10 AnimoAcid: p.Phe2799LysfsX3 |
Deletion | Direct sequencing |
Ehlayel M et al., 2008 |
| 158 | Substitutions | Genomic: g.72094A>C CDS: c.4777-2A>C AnimoAcid: |
Substitutions | Direct sequencing, PCR based assay |
Birrell GW et al., 2005 |
| 159 | Substitutions | Genomic: g.110017T>G CDS: c.7875T>G AnimoAcid: p.Asp2625Glu |
Substitutions | Direct sequencing, PCR based assay |
Dork T et al., 2004 |
| 160 | Substitutions | Genomic: g.13008G>A CDS: c.496+5G>A AnimoAcid: |
Substitutions | Direct sequencing, PCR based assay |
Dork T et al., 2004 |
| 161 | Substitutions | Genomic: g.110018G>C CDS: c.7876G>C AnimoAcid: p.Ala2626Pro |
Substitutions | Direct sequencing, PCR based assay |
Dork T et al., 2004 |
| 162 | Deletion-Insertion | Genomic: g.110017_110018delTGinsGC CDS: c.7875_7876delTGinsGC AnimoAcid: p.Asp2625_Ala2626delinsGluPro |
Deletion-Insertion | Direct sequencing |
Verhagen MM et al., 2009 |
| 163 | Deletion | Genomic: g.24258_24262delGAAAA CDS: c.1027_1031delGAAAA AnimoAcid: p.Glu343PhefsX3 |
Deletion | Direct sequencing |
Verhagen MM et al., 2009 |
| 164 | Deletion | Genomic: g.29058delA CDS: c.1660delA AnimoAcid: p.Thr554ArgfsX2 |
Deletion | Direct sequencing |
Verhagen MM et al., 2009 |
| 165 | Substitutions | Genomic: g.124496T>G CDS: c.8633T>G AnimoAcid: p.Ile2878Arg |
Substitutions | Direct sequencing |
Verhagen MM et al., 2009 |
| 166 | Deletion | Genomic: g.123071_123073delTCT CDS: c.8578_8580delTCT AnimoAcid: p.Ser2860del |
Deletion | Direct sequencing |
Verhagen MM et al., 2009 |
| 167 | Deletion | Genomic: g.28198_2819delGA CDS: c.1564_1565delGA AnimoAcid: p.Glu522LeufsX43 |
Deletion | Direct sequencing |
Verhagen MM et al., 2009 |
| 168 | Substitutions | Genomic: g.49759C>T CDS: c.3136C>T AnimoAcid: p.Leu1046Phe |
Substitutions | Direct sequencing |
Verhagen MM et al., 2009 |
| 169 | Substitutions | Genomic: g.108719T>G CDS: c.7622T>G AnimoAcid: p.Leu2541Arg |
Substitutions | Direct sequencing |
Verhagen MM et al., 2009 |
| 170 | Substitutions | Genomic: g.6497G>A CDS: c.331+5G>A AnimoAcid: |
Substitutions | Direct sequencing |
Verhagen MM et al., 2009 |
| 171 | Substitutions | Genomic: g.48303T>G CDS: c.2909T>G AnimoAcid: p.Leu970Arg |
Substitutions | Direct sequencing |
Verhagen MM et al., 2009 |
| 172 | Duplications | Genomic: g.103327dupA CDS: c.6908dupA AnimoAcid: p.Glu2304GlyfsX69 |
Duplications | Direct sequencing |
Verhagen MM et al., 2009 |
| 173 | Substitutions | Genomic: g.89593G>T CDS: c.5932G>T AnimoAcid: p.Glu1978X |
Substitutions | Direct sequencing |
Verhagen MM et al., 2009 |
| 174 | Substitutions | Genomic: g.112274T>C CDS: c.8147T>C AnimoAcid: p.Val2716Ala |
Substitutions | Direct sequencing |
Verhagen MM et al., 2009 |
| 175 | Deletion | Genomic: g.22011_22014delCCTC CDS: c.717_720delCCTC AnimoAcid: p.Phe239LeufsX15 |
Deletion | Direct sequencing |
Verhagen MM et al., 2009 |
| 176 | Substitutions | Genomic: g.13008G>A CDS: c.496+5G>A AnimoAcid: |
Substitutions | Direct sequencing |
Verhagen MM et al., 2009 |
| 177 | Substitutions | Genomic: g.48419G>A CDS: c.2922-1G>A AnimoAcid: |
Substitutions | Direct sequencing |
Verhagen MM et al., 2009 |
| 178 | Substitutions | Genomic: g.106281C>T CDS: c.7181C>T AnimoAcid: p.Ser2394Leu |
Substitutions | Denaturing HPLC |
Austen B et al., 2008 |
| 179 | Substitutions | Genomic: g.92991G>C CDS: c.6007-1G>C AnimoAcid: |
Substitutions | Denaturing HPLC |
Austen B et al., 2008 |
| 180 | Substitutions | Genomic: g.89593G>T CDS: c.5932G>T AnimoAcid: p.Glu1978X |
Substitutions | Direct sequencing |
Soukupova J et al., 2008 |
| 181 | Substitutions | Genomic: g.77055G>A CDS: c.5177+1G>A AnimoAcid: |
Substitutions | Direct sequencing |
Soukupova J et al., 2008 |
| 182 | Substitutions | Genomic: g.26096T>G CDS: c.1066-6T>G AnimoAcid: |
Substitutions | Direct sequencing |
Soukupova J et al., 2008 |
| 183 | Deletion | Genomic: g.93171_93175delTTCTT CDS: c.6096-9_6096-5delTTCTT AnimoAcid: |
Deletion | Direct sequencing |
Soukupova J et al., 2008 |
| 184 | Deletion | Genomic: g.82000delA CDS: c.5653delA AnimoAcid: p.Thr1885ProfsX32 |
Deletion | Direct sequencing |
Alterman N et al., 2007 |
| 185 | Deletion | Genomic: g.142514_142541del28 CDS: c.9008_9035del28 AnimoAcid: p.Lys3004TyrfsX5 |
Deletion | Dideoxy fingerprinting |
Mancebo E et al., 2007 |
| 186 | Substitutions | Genomic: g.108667G>C CDS: c.7570G>C AnimoAcid: p.Ala2524Pro |
Substitutions | Direct sequencing |
Pylkas K et al., 2007 |
| 187 | Duplications | Genomic: g.103322dupA CDS: c.6903dupA AnimoAcid: p.Glu2304GlyfsX69 |
Duplications | Direct sequencing |
Pylkas K et al., 2007 |
| 188 | Substitutions | Genomic: g.130997A>G CDS: c.8734A>G AnimoAcid: p.Arg2912Gly |
Substitutions | Direct sequencing |
Pylkas K et al., 2007 |
| 189 | Substitutions | Genomic: g.6492A>T CDS: c.331A>T AnimoAcid: p.Arg111X |
Substitutions | Denaturing HPLC, PCR based assay |
Cavalieri S et al., 2006 |
| 190 | Deletion | Genomic: g.22011_22014delCCTC CDS: c.717_720delCCTC AnimoAcid: p.Phe239LeufsX15 |
Deletion | Denaturing HPLC, Direct sequencing |
Cavalieri S et al., 2006 |
| 191 | Deletion | Genomic: g.28158delT CDS: c.1524delT AnimoAcid: p.Gly509GlufsX3 |
Deletion | Denaturing HPLC, Direct sequencing |
Cavalieri S et al., 2006 |
| 192 | Substitutions | Genomic: g.28097G>A CDS: c.1463G>A AnimoAcid: p.Trp488X |
Substitutions | Denaturing HPLC, Direct sequencing |
Cavalieri S et al., 2006 |
| 193 | Substitutions | Genomic: g.30082G>T CDS: c.1898+1G>T AnimoAcid: |
Substitutions | Denaturing HPLC, Direct sequencing, PCR based assay |
Cavalieri S et al., 2006 |
| 194 | Substitutions | Genomic: g.33509G>A CDS: c.2250G>A AnimoAcid: |
Substitutions | Denaturing HPLC, Direct sequencing, PCR based assay |
Cavalieri S et al., 2006 |
| 195 | Substitutions | Genomic: g.36191C>T CDS: c.2413C>T AnimoAcid: p.Arg805X |
Substitutions | Denaturing HPLC, Direct sequencing |
Cavalieri S et al., 2006 |
| 196 | Deletion | Genomic: g.49734delT CDS: c.3111delT AnimoAcid: p.Val1038X |
Deletion | Denaturing HPLC, Direct sequencing |
Cavalieri S et al., 2006 |
| 197 | Duplications | Genomic: g.66878dupA CDS: c.4344dupA AnimoAcid: p.Leu1449IlefsX42 |
Duplications | Denaturing HPLC, Direct sequencing |
Cavalieri S et al., 2006 |
| 198 | Substitutions | Genomic: g.102470G>A CDS: c.6573-9G>A AnimoAcid: |
Substitutions | Denaturing HPLC, Direct sequencing, PCR based assay |
Cavalieri S et al., 2006 |
| 199 | Deletion | Genomic: c.2839-?_4109+?del CDS: AnimoAcid: |
Deletion | Denaturing HPLC, Direct sequencing, PCR based assay |
Cavalieri S et al., 2006 |
| 200 | Deletion | Genomic: g.113126_113130delATAAG CDS: c.8264_8268delATAAG AnimoAcid: p.Gly2718_Lys2756del |
Deletion | Direct sequencing |
Renwick A et al., 2006 |
| 201 | Substitutions | Genomic: g.58337G>A CDS: c.3576G>A AnimoAcid: |
Substitutions | Denaturing HPLC, Direct sequencing, PCR based assay |
Cavalieri S et al., 2006 |
| 202 | Deletion | Genomic: c.4437-?_5177+?del CDS: AnimoAcid: |
Deletion | Denaturing HPLC, Direct sequencing, Restriction enzyme analysis, Southern blotting |
Cavalieri S et al., 2006 |
| 203 | Deletion | Genomic: g.89640_89644delTAAAG CDS: c.5979_5983delTAAAG AnimoAcid: p.Ser1993ArgfsX23 |
Deletion | Denaturing HPLC, Direct sequencing |
Cavalieri S et al., 2006 |
| 204 | Deletion | Genomic: g.108614_108617delGAGA CDS: c.7517_7520delGAGA AnimoAcid: p.Arg2506ThrfsX3 |
Deletion | Denaturing HPLC, Direct sequencing |
Cavalieri S et al., 2006 |
| 205 | Substitutions | Genomic: g.112249G>A CDS: c.8122G>A AnimoAcid: p.Asp2708Asn |
Substitutions | Denaturing HPLC, Direct sequencing |
Cavalieri S et al., 2006 |
| 206 | Substitutions | Genomic: g.142609C>T CDS: c.9103C>T AnimoAcid: p.Leu3035Phe |
Substitutions | Denaturing HPLC, Direct sequencing |
Cavalieri S et al., 2006 |
| 207 | Substitutions | Genomic: g.122966C>T CDS: c.8473C>T AnimoAcid: p.Gln2825X |
Substitutions | Denaturing HPLC, Direct sequencing |
Cavalieri S et al., 2006 |
| 208 | Substitutions | Genomic: g.56724C>T CDS: c.3349C>T AnimoAcid: p.Gln1117X |
Substitutions | Direct sequencing |
Renwick A et al., 2006 |
| 209 | Deletion | Genomic: g.61451delG CDS: c.3802delG AnimoAcid: p.Val1268X |
Deletion | Direct sequencing |
Renwick A et al., 2006 |
| 210 | Deletion | Genomic: g.78929delC CDS: c.5290delC AnimoAcid: p.Leu1764TyrfsX12 |
Deletion | Direct sequencing |
Renwick A et al., 2006 |
| 211 | Substitutions | Genomic: g.106371T>G CDS: c.7271T>G AnimoAcid: p.Val2424Gly |
Substitutions | Direct sequencing |
Renwick A et al., 2006 |
| 212 | Substitutions | Genomic: g.27980G>C CDS: c.1346G>C AnimoAcid: p.Gly449Ala |
Substitutions | Direct sequencing |
Jiang H et al., 2006 |
| 213 | Substitutions | Genomic: g.21235G>T CDS: c.610G>T AnimoAcid: p.Gly204X |
Substitutions | Direct sequencing |
Jiang H et al., 2006 |
| 214 | Substitutions | Genomic: g.102585C>T CDS: c.6679C>T AnimoAcid: p.Arg2227Cys |
Substitutions | Direct sequencing |
Jiang H et al., 2006 |
| 215 | Substitutions | Genomic: g.77055G>A CDS: c.5177+1G>A AnimoAcid: |
Substitutions | Fluorescent sequencing |
Heinrich T et al., 2006 |
| 216 | Substitutions | Genomic: g.69938T>G CDS: c.4587T>G AnimoAcid: p.Tyr1529X |
Substitutions | Fluorescent sequencing |
Heinrich T et al., 2006 |
| 217 | Substitutions | Genomic: g.21163C>T CDS: c.538C>T AnimoAcid: p.Gln180X |
Substitutions | Fluorescent sequencing |
Heinrich T et al., 2006 |
| 218 | Deletion | Genomic: g.109086_109089del4 CDS: c.7668_7671del4 AnimoAcid: p.Phe2558LeufsX5 |
Deletion | Fluorescent sequencing |
Heinrich T et al., 2006 |
| 219 | Substitutions | Genomic: g.6494T>C CDS: c.331+2T>C AnimoAcid: |
Substitutions | Fluorescent sequencing |
Heinrich T et al., 2006 |
| 220 | Deletion | Genomic: g.22084delT CDS: c.790delT AnimoAcid: p.Tyr264IlefsX12 |
Deletion | Fluorescent sequencing |
Heinrich T et al., 2006 |
| 221 | Deletion | Genomic: g.74534_74535delGT CDS: c.4988_4989delGT AnimoAcid: p.Glu1664LysfsX27 |
Deletion | Fluorescent sequencing |
Heinrich T et al., 2006 |
| 222 | Substitutions | Genomic: g.111053A>T CDS: c.7928-2A>T AnimoAcid: |
Substitutions | Fluorescent sequencing |
Heinrich T et al., 2006 |
| 223 | Substitutions | Genomic: g.110007C>T CDS: c.7865C>T AnimoAcid: p.Ala2622Val |
Substitutions | Fluorescent sequencing |
Heinrich T et al., 2006 |
| 224 | Substitutions | Genomic: g.112251T>A CDS: c.8124T>A AnimoAcid: p.Asp2708Glu |
Substitutions | Fluorescent sequencing |
Heinrich T et al., 2006 |
| 225 | Deletion | Genomic: g.22045_22046delGT CDS: c.751_752delGT AnimoAcid: p.Cys252X |
Deletion | Fluorescent sequencing |
Heinrich T et al., 2006 |
| 226 | Substitutions | Genomic: g.89593G>T CDS: c.5932G>T AnimoAcid: p.Glu1978X |
Substitutions | Fluorescent sequencing |
Heinrich T et al., 2006 |
| 227 | Deletion-Insertion | Genomic: g.103329_103330delGAinsTG CDS: c.6910_6911delGAinsTG AnimoAcid: p.Glu2304Trp |
Deletion-Insertion | Fluorescent sequencing |
Heinrich T et al., 2006 |
| 228 | Deletion | Genomic: g.4819delT CDS: c.26delT AnimoAcid: p.Ile10SerfsX6 |
Deletion | Fluorescent sequencing |
Heinrich T et al., 2006 |
| 229 | Substitutions | Genomic: g.103309A>C CDS: c.6890A>C AnimoAcid: p.Gln2297Pro |
Substitutions | Denaturing HPLC, Denaturing gradient gel electrophoresis, Direct sequencing, Heteroduplex analysis |
Stray-Pedersen A et al., 2004 |
| 230 | Deletion-Insertion | Genomic: g.49982_49984delATCinsTGAT CDS: c.3245_3247delATCinsTGAT AnimoAcid: p.His1082LeufsX28 |
Deletion-Insertion | Denaturing HPLC, Denaturing gradient gel electrophoresis, Direct sequencing, Heteroduplex analysis |
Stray-Pedersen A et al., 2004 |
| 231 | Substitutions | Genomic: g.21138C>T CDS: c.513C>T AnimoAcid: p.Glu166GlyfsX4 |
Substitutions | Denaturing HPLC, Fluorescent sequencing, PCR based assay, SSCP |
Babaei M et al., 2005 |
| 232 | Deletion-Insertion | Genomic: g.113063_113074del11ins6 CDS: c.8201_8212del11ins6 AnimoAcid: p.Met2734fs |
Deletion-Insertion | Denaturing HPLC, Fluorescent sequencing, SSCP |
Babaei M et al., 2005 |
| 233 | Substitutions | Genomic: g.124496T>G CDS: c.8633T>G AnimoAcid: p.Ile2878Arg |
Substitutions | Denaturing HPLC, Fluorescent sequencing, SSCP |
Babaei M et al., 2005 |
| 234 | Substitutions | Genomic: g.93032A>G CDS: c.6047A>G AnimoAcid: p.Asp2016Gly |
Substitutions | Denaturing HPLC, Fluorescent sequencing, SSCP |
Babaei M et al., 2005 |
| 235 | Substitutions | Genomic: g.102585C>T CDS: c.6679C>T AnimoAcid: p.Arg2227Cys |
Substitutions | Denaturing HPLC, Fluorescent sequencing, SSCP |
Babaei M et al., 2005 |
| 236 | Deletion | Genomic: g.81678_81982delCTCGC CDS: c.5631_5635delCTCGC AnimoAcid: p.Phe1877LeufsX25 |
Deletion | Denaturing HPLC, Fluorescent sequencing, SSCP |
Babaei M et al., 2005 |
| 237 | Substitutions | Genomic: g.72171C>T CDS: c.4852C>T AnimoAcid: p.Arg1618X |
Substitutions | Denaturing HPLC, Fluorescent sequencing, SSCP |
Babaei M et al., 2005 |
| 238 | Deletion | Genomic: g.49956delA CDS: c.3219delA AnimoAcid: p.Phe1074LeufsX35 |
Deletion | Denaturing HPLC, Fluorescent sequencing, SSCP |
Babaei M et al., 2005 |
| 239 | Insertion | Genomic: g.48318_48319insT CDS: c.2921+3_2921+4insT AnimoAcid: |
Insertion | Denaturing HPLC, Fluorescent sequencing, SSCP |
Babaei M et al., 2005 |
| 240 | Insertion | Genomic: g.81986_81987insA CDS: c.5639_5640insA AnimoAcid: p.Ser1881GlufsX23 |
Insertion | Denaturing HPLC, Fluorescent sequencing, SSCP |
Babaei M et al., 2005 |
| 241 | Insertion | Genomic: g.44376_44377insA CDS: c.2503_2504insA AnimoAcid: p.Val835AspfsX7 |
Insertion | Denaturing HPLC, Fluorescent sequencing, SSCP |
Babaei M et al., 2005 |
| 242 | Substitutions | Genomic: g.36191C>T CDS: c.2413C>T AnimoAcid: p.Arg805X |
Substitutions | Denaturing HPLC, Fluorescent sequencing, SSCP |
Babaei M et al., 2005 |
| 243 | Deletion | Genomic: g.12888delA CDS: c.381delA AnimoAcid: p.Val128X |
Deletion | Denaturing HPLC, Fluorescent sequencing, SSCP |
Babaei M et al., 2005 |
| 244 | Deletion | Genomic: g.122925delA CDS: c.8432delA AnimoAcid: p.Lys2811SerfsX6 |
Deletion | Denaturing HPLC, Denaturing gradient gel electrophoresis, Direct sequencing, Heteroduplex analysis |
Stray-Pedersen A et al., 2004 |
| 245 | Deletion-Insertion | Genomic: g.142378_142381delGAAAinsAT CDS: c.8978_8981delGAAAinsAT AnimoAcid: p.Arg2993HisfsX4 |
Deletion-Insertion | Denaturing HPLC, Denaturing gradient gel electrophoresis, Direct sequencing, Heteroduplex analysis |
Stray-Pedersen A et al., 2004 |
| 246 | Substitutions | Genomic: g.89593G>T CDS: c.5932G>T AnimoAcid: p.Glu1978X |
Substitutions | Denaturing HPLC, Denaturing gradient gel electrophoresis, Direct sequencing, Heteroduplex analysis |
Stray-Pedersen A et al., 2004 |
| 247 | Deletion | Genomic: g.48274delC CDS: c.2880delC AnimoAcid: p.Leu961CysfsX10 |
Deletion | Denaturing HPLC, Denaturing gradient gel electrophoresis, Direct sequencing, Heteroduplex analysis |
Stray-Pedersen A et al., 2004 |
| 248 | Substitutions | Genomic: g.27973C>T CDS: c.1339C>T AnimoAcid: p.Arg447X |
Substitutions | Fluorescent sequencing, Restriction enzyme analysis |
Fares F et al., 2004 |
| 249 | Deletion | Genomic: g.102583_102586delTACG CDS: c.6677_6680delTACG AnimoAcid: p.Leu2226ProfsX8 |
Deletion | Fluorescent sequencing, Restriction enzyme analysis |
Fares F et al., 2004 |
| 250 | Deletion | Genomic: g.102578_102579delGG CDS: c.6672_6673delGG AnimoAcid: p.Met2224IlefsX24 |
Deletion | Fluorescent sequencing, Restriction enzyme analysis |
Fares F et al., 2004 |
| 251 | Deletion | Genomic: g.113126_113130delATAAG CDS: c.8264_8268delATAAG AnimoAcid: p.Gly2718_Lys2756del |
Deletion | Denaturing HPLC, Direct sequencing, SSCP |
Coutinho G et al., 2004 |
| 252 | Substitutions | Genomic: g.61643G>A CDS: c.3993+1G>A AnimoAcid: |
Substitutions | Denaturing HPLC, Direct sequencing, SSCP |
Coutinho G et al., 2004 |
| 253 | Deletion | Genomic: g.28197_28198delAG CDS: c.1563_1564delAG AnimoAcid: p.Glu522IlefsX43 |
Deletion | Denaturing HPLC, Direct sequencing, SSCP |
Coutinho G et al., 2004 |
| 254 | Substitutions | Genomic: g.66234A>T CDS: c.4198A>T AnimoAcid: p.Lys1400X |
Substitutions | Denaturing HPLC, Direct sequencing, SSCP |
Coutinho G et al., 2004 |
| 255 | Substitutions | Genomic: g.130989G>C CDS: c.8726G>C AnimoAcid: p.Arg2909Thr |
Substitutions | Denaturing HPLC, Direct sequencing, SSCP |
Coutinho G et al., 2004 |
| 256 | Deletion | Genomic: g.61451delG CDS: c.3802delG AnimoAcid: p.Val1268X |
Deletion | Denaturing HPLC, Direct sequencing, SSCP |
Coutinho G et al., 2004 |
| 257 | Deletion | Genomic: g.110026_110030delTATAT CDS: c.7884_7888delTATAT AnimoAcid: p.Ile2629SerfsX25 |
Deletion | Denaturing HPLC, Direct sequencing, SSCP |
Coutinho G et al., 2004 |
| 258 | Deletion | Genomic: g.108614_108617delGAGA CDS: c.7517_7520delGAGA AnimoAcid: p.Arg2506_Asn2543del |
Deletion | Denaturing HPLC, Direct sequencing, SSCP |
Coutinho G et al., 2004 |
| 259 | Substitutions | Genomic: g.110055G>A CDS: c.7913G>A AnimoAcid: p.Trp2638X |
Substitutions | Denaturing HPLC, Direct sequencing, SSCP |
Coutinho G et al., 2004 |
| 260 | Substitutions | Genomic: g.109928T>G CDS: c.7789-3T>G AnimoAcid: |
Substitutions | Denaturing HPLC, Direct sequencing, SSCP |
Coutinho G et al., 2004 |
| 261 | Substitutions | Genomic: g.58246T>G CDS: c.3485T>G AnimoAcid: p.Leu1162X |
Substitutions | Denaturing HPLC, Direct sequencing, SSCP |
Coutinho G et al., 2004 |
| 262 | Deletion | Genomic: g.64777_64780delCTTA CDS: c.4002_4005delCTTA AnimoAcid: p.Leu1335SerfsX13 |
Deletion | Denaturing HPLC, Direct sequencing, SSCP |
Coutinho G et al., 2004 |
| 263 | Substitutions | Genomic: g.81991C>T CDS: c.5644C>T AnimoAcid: p.Arg1882X |
Substitutions | Denaturing HPLC, Direct sequencing, SSCP |
Coutinho G et al., 2004 |
| 264 | Deletion | Genomic: g.120517_120526del10 CDS: c.8395_8404del10 AnimoAcid: p.Phe2799LysfsX4 |
Deletion | Denaturing HPLC, Direct sequencing, SSCP |
Coutinho G et al., 2004 |
| 265 | Substitutions | Genomic: g.124483C>T CDS: c.8620C>T AnimoAcid: p.Gln2874X |
Substitutions | Denaturing HPLC, Direct sequencing, SSCP |
Coutinho G et al., 2004 |
| 266 | Substitutions | Genomic: g.66837A>T CDS: c.4303A>T AnimoAcid: p.Lys1435X |
Substitutions | Denaturing HPLC, Direct sequencing, SSCP |
Coutinho G et al., 2004 |
| 267 | Substitutions | Genomic: g.109934C>T CDS: c.7792C>T AnimoAcid: p.Arg2598X |
Substitutions | Denaturing HPLC, Direct sequencing, SSCP |
Coutinho G et al., 2004 |
| 268 | Substitutions | Genomic: g.70602C>T CDS: c.4732C>T AnimoAcid: p.Gln1578X |
Substitutions | Denaturing HPLC, Direct sequencing, SSCP |
Coutinho G et al., 2004 |
| 269 | Substitutions | Genomic: g.28154T>A CDS: c.1520T>A AnimoAcid: p.Leu507X |
Substitutions | Denaturing HPLC, Direct sequencing, SSCP |
Coutinho G et al., 2004 |
| 270 | Substitutions | Genomic: g.27868A>G CDS: c.1236-2A>G AnimoAcid: |
Substitutions | Denaturing HPLC, Direct sequencing, SSCP |
Coutinho G et al., 2004 |
| 271 | Substitutions | Genomic: g.109046A>C CDS: c.7630-2A>C AnimoAcid: |
Substitutions | Denaturing HPLC, Direct sequencing, SSCP |
Coutinho G et al., 2004 |
| 272 | Duplications | Genomic: g.27964_27965dupCC CDS: c.1330_1331dupCC AnimoAcid: p.Gln445ProfsX29 |
Duplications | Denaturing HPLC, Direct sequencing, SSCP |
Coutinho G et al., 2004 |
| 273 | Deletion | Genomic: g.21265delT CDS: c.640delT AnimoAcid: p.Ser214ProfsX16 |
Deletion | Denaturing HPLC, Direct sequencing, SSCP |
Coutinho G et al., 2004 |
| 274 | Duplications | Genomic: g.120494_120509dup CDS: c.8372_8387dup AnimoAcid: p.Phe2796LeufsX5 |
Duplications | Denaturing HPLC, Direct sequencing, SSCP |
Coutinho G et al., 2004 |
| 275 | Deletion | Genomic: g.142514_142541del CDS: c.9008_9035del AnimoAcid: p.Lys3004TyrfsX5 |
Deletion | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Garcia-Perez MA et al., 2001 |
| 276 | Substitutions | Genomic: g.33382A>C CDS: c.2125-2A>C AnimoAcid: p.Cys633X |
Substitutions | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Garcia-Perez MA et al., 2001 |
| 277 | Substitutions | Genomic: g.131050G>A CDS: c.8786+1G>A AnimoAcid: p.Gly2891AspfsX9 |
Substitutions | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Garcia-Perez MA et al., 2001 |
| 278 | Substitutions | Genomic: g.48316G>A CDS: c.2921+1G>A AnimoAcid: p.Tyr947GlnfsX9 |
Substitutions | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Garcia-Perez MA et al., 2001 |
| 279 | Duplications | Genomic: g.33451dupA CDS: c.2192dupA AnimoAcid: p.Tyr731X |
Duplications | Fluorescent sequencing, PCR based assay |
Saviozzi S et al., 2003 |
| 280 | Deletion | Genomic: g.49733delC CDS: c.3110delC AnimoAcid: p.Ser1037LeufsX2 |
Deletion | Fluorescent sequencing, PCR based assay |
Saviozzi S et al., 2003 |
| 281 | Deletion | Genomic: g.106250delA CDS: c.7150delA AnimoAcid: p.Met2384X |
Deletion | Fluorescent sequencing, PCR based assay |
Saviozzi S et al., 2003 |
| 282 | Deletion | Genomic: g.120490delA CDS: c.8368delA AnimoAcid: p.Arg2790AspfsX16 |
Deletion | Fluorescent sequencing, PCR based assay |
Saviozzi S et al., 2003 |
| 283 | Substitutions | Genomic: g.132043G>T CDS: c.8850G>T AnimoAcid: p.Cys2930SerfsX12 |
Substitutions | Fluorescent sequencing, PCR based assay |
Saviozzi S et al., 2003 |
| 284 | Substitutions | Genomic: g.103332C>T CDS: c.6913C>T AnimoAcid: p.Gln2305X |
Substitutions | Fluorescent sequencing, PCR based assay |
Saviozzi S et al., 2003 |
| 285 | Deletion | Genomic: g.12987_12991del5 CDS: c.480_484del AnimoAcid: p.Gln161ThrfsX22 |
Deletion | Direct sequencing, PCR based assay |
Izatt L et al., 1999 |
| 286 | Substitutions | Genomic: g.142645C>T CDS: c.9139C>T AnimoAcid: p.Arg3047X |
Substitutions | Direct sequencing, PCR based assay |
Izatt L et al., 1999 |
| 287 | Deletion | Genomic: g.27989delC CDS: c.1355delC AnimoAcid: p.Thr452AsnfsX21 |
Deletion | Direct sequencing, PCR based assay |
Izatt L et al., 1999 |
| 288 | Substitutions | Genomic: g.66928T>C CDS: c.4394T>C AnimoAcid: p.Leu1465Pro |
Substitutions | Direct sequencing, PCR based assay, Restriction enzyme analysis |
Izatt L et al., 1999 |
| 289 | Deletion | Genomic: g.26194delG CDS: c.1158delG AnimoAcid: p.Lys387ArgfsX3 |
Deletion | Direct sequencing, PCR based assay |
Izatt L et al., 1999 |
| 290 | Substitutions | Genomic: g.49700G>A CDS: c.3078-1G>A AnimoAcid: |
Substitutions | Direct sequencing, PCR based assay |
Izatt L et al., 1999 |
| 291 | Substitutions | Genomic: g.94668T>G CDS: c.6325T>G AnimoAcid: p.Trp2109Gly |
Substitutions | Direct sequencing |
Silvestri G et al., 2010 |
| 292 | Substitutions | Genomic: g.61580C>T CDS: c.3931C>T AnimoAcid: p.Gln1311X |
Substitutions | NA |
Perreault S et al., 2012 |
| 293 | Deletion | Genomic: g.21135_21136delGT CDS: c.510_511delGT AnimoAcid: p.Tyr171LeufsX13 |
Deletion | Capillary sequencing |
Bartsch O et al., 2012 |
| 294 | Deletion | Genomic: g.48370_48438del69 CDS: c.2922-50_2940del69 AnimoAcid: p.Arg981ValfsX11 |
Deletion | Capillary sequencing |
Bartsch O et al., 2012 |
| 295 | Inversions | Genomic: g.(2219042_2219425)_(23000062_23001547)inv (NCBI Build 37.3) CDS: AnimoAcid: |
Inversions | SNP based analysis, FISH |
Bartsch O et al., 2012 |
| 296 | Duplications | Genomic: g.(27778828_27828664)_(31238357_31257696)dup (NCBI Build 37.3) CDS: AnimoAcid: |
Duplications | SNP based analysis |
Bartsch O et al., 2012 |
| 297 | Substitutions | Genomic: g.27950T>C CDS: c.1316T>C AnimoAcid: p.Leu439Pro |
Substitutions | Sanger sequencing, Next-generation sequencing |
Ghosh S et al., 2012 |
| 298 | Substitutions | Genomic: g.111112T>A CDS: c.7985T>A AnimoAcid: p.Val2662Asp |
Substitutions | NA |
Landoure G et al., 2012 |
| 299 | Genomic: g.4975C>T CDS: c.103C>T AnimoAcid: p.Arg35X |
Direct sequencing |
Jeddane L et al., 2013 | ||
| 300 | Deletion | Genomic: g.28036_28037delAA CDS: c.1402_1403delAA AnimoAcid: p.Lys468GlufsX18 |
Deletion | Direct sequencing |
Jeddane L et al., 2013 |
| 301 | Substitutions | Genomic: g.48316G>A CDS: c.2921+1G>A AnimoAcid: p.Tyr947GlnfsX9 |
Substitutions | Direct sequencing |
Jeddane L et al., 2013 |
| 302 | Deletion | Genomic: g.50009_50024del16 CDS: c.3272_3284+3del16 AnimoAcid: p.Glu1091AspfsX14 |
Deletion | Direct sequencing |
Jeddane L et al., 2013 |
| 303 | Substitutions | Genomic: g.81991C>T CDS: c.5644C>T AnimoAcid: p.Arg1882X |
Substitutions | Direct sequencing |
Jeddane L et al., 2013 |
| 304 | Substitutions | Genomic: g.85083C>T CDS: c.5692C>T AnimoAcid: p.Arg1898X |
Substitutions | Direct sequencing |
Jeddane L et al., 2013 |
| 305 | Duplications | Genomic: g.102682_102683dupCT CDS: c.6776_6777dupCT AnimoAcid: p.Ile2260LeufsX51 |
Duplications | Direct sequencing |
Jeddane L et al., 2013 |
| 306 | Substitutions | Genomic: g.103292G>A CDS: c.6873G>A AnimoAcid: p.Trp2291X |
Substitutions | Direct sequencing |
Jeddane L et al., 2013 |
| 307 | Deletion | Genomic: g.110026_110030delTATAT CDS: c.7884_7888delTATAT AnimoAcid: p.Ile2629SerfsX25 |
Deletion | Direct sequencing |
Jeddane L et al., 2013 |
| 308 | Substitutions | Genomic: g.111112T>A CDS: c.7985T>A AnimoAcid: p.Val2662Asp |
Substitutions | Direct sequencing |
Jeddane L et al., 2013 |
| 309 | Deletion-Insertion | Genomic: g.113098_113101delinsTCCCT CDS: c.8236_8239delinsTCCCT AnimoAcid: p.Arg2746SerfsX11 |
Deletion-Insertion | Direct sequencing |
Jeddane L et al., 2013 |
| 310 | Substitutions | Genomic: g.123028G>A CDS: c.8535G>A AnimoAcid: p.Trp2845X |
Substitutions | Direct sequencing |
Jeddane L et al., 2013 |
| 311 | Substitutions | Genomic: g.124446A>C CDS: c.8585-2A>C AnimoAcid: |
Substitutions | Direct sequencing |
Jeddane L et al., 2013 |
| 312 | Substitutions | Genomic: g.124522C>G CDS: c.8659C>G AnimoAcid: p.His2887Asp |
Substitutions | Direct sequencing |
Jeddane L et al., 2013 |
| 313 | Substitutions | Genomic: g.142377C>T CDS: c.8977C>T AnimoAcid: p.Arg2993X |
Substitutions | Direct sequencing |
Jeddane L et al., 2013 |
| 314 | Insertion | Genomic: g.30044insA CDS: c.1861insA AnimoAcid: |
Insertion | PCR based assay, SSCP |
Vorechovsky I et al., 1996 |
| 315 | Deletion-Insertion | Genomic: g.31198_31203delACTCATinsTCATAC CDS: c.2114_2119delACTCATinsTCATAC AnimoAcid: |
Deletion-Insertion | PCR based assay, SSCP |
Vorechovsky I et al., 1996 |
| 316 | Substitutions | Genomic: g.36191C>T CDS: c.2413C>T AnimoAcid: p.Arg805X |
Substitutions | PCR based assay, SSCP |
Vorechovsky I et al., 1996 |
| 317 | Deletion | Genomic: g.60012_60016del5 CDS: c.3710_3714del5 AnimoAcid: p.Leu1238LysfsX6 |
Deletion | PCR based assay, SSCP |
Vorechovsky I et al., 1996 |
| 318 | Insertion | Genomic: g.69869insACTTACTGTAAGGTTTGCCAGACAGCCGT CDS: c.4518insACTTACTGTAAGGTTTGCCAGACAGCCGT AnimoAcid: |
Insertion | PCR based assay, SSCP |
Vorechovsky I et al., 1996 |
| 319 | Substitutions | Genomic: g.72177C>T CDS: c.4858C>T AnimoAcid: p.Gln1620X |
Substitutions | PCR based assay, SSCP |
Vorechovsky I et al., 1996 |
| 320 | Deletion | Genomic: g.108615_108618del4 CDS: c.7518_7521del4 AnimoAcid: p.Asp2507GlufsX2 |
Deletion | PCR based assay, SSCP |
Vorechovsky I et al., 1996 |
| 321 | Substitutions | Genomic: g.142377C>T CDS: c.8977C>T AnimoAcid: p.Arg2993X |
Substitutions | PCR based assay, SSCP |
Vorechovsky I et al., 1996 |
| 322 | Substitutions | Genomic: g.123039G>C CDS: c.8546G>C AnimoAcid: p.Arg2849Pro |
Substitutions | PCR based assay |
Huh HJ et al., 2013 |
| 323 | Deletion | Genomic: g.45560_45572del13 CDS: c.2639-19_2639-7del13 AnimoAcid: p.Gly880_Met946del |
Deletion | PCR based assay |
Huh HJ et al., 2013 |