c.259C > G | Missense | p.His87Asp | [19] |
c.263A > G | Missense | p.Tyr88Cys | [17] |
c.265T > C | Missense | p.Cys89Arg | [14] |
c.266G > A | Missense | p.Cys89Tyr | [20] |
c.269G > A | Missense | p.Cys90Tyr | [25] |
c.270C > G | Missense | p.Cys90Trp | [43] |
c.270C > A | Missense | p.Cys90* | [44] |
c.283T > C | Missense | p.Cys95Arg | [28] |
c.286A > G | Missense | p.Asn96Asp | [34] |
c.287A > G | Missense | p.Asn96Ser | [45] |
c.289_295delCACAACG | Deletion | p.His97Cysfs*23 | [14] |
c.289_294delCACAAC | Deletion | p.His97_Ans98del | [35] |
c.293A > G | Missense | p.Asn98Ser | [46] |
c.301_307delCTGGTGC | Deletion | p.Leu101Trpfs*19 | [31] |
c.313 + 1G > A | Missense | p.? | [14] |
c.314 − 3C > G | Splice Site | p.? | [46] |
c.319delC | Deletion | p.Gln107Asnfs*15 | [37] |
c.321delA | Deletion | p.Gln107Hisfs*15 | [40] |
c.329C > A | Missense | p.Ser110* | [14] |
c.334C > T | Missense | p.Gln112* | [14] |
c.352C > T | Missense | p.Gln118* | [39] |
c.353_360dupAGCTGGCC | Duplication | p.Leu121Serfs*4 | [47] |
c.374_375dupCC | Duplication | p.Val126Profs*40 | [39] |
c.383C > A | Missense | p.Ala128Asp | [48] |
c.400delG | Deletion | p.Ala134Profs*31 | [34] |
c.406_409delGGTG | Deletion | p.Gly136Serfs*28 | [34] |
c.423G > A | Missense | p.Trp141* | [38] |
c.430C > T | Missense | p.Arg144* | [23] |
c.435dupG | Duplication | p.Arg146Glufs*23 | [24] |
c.435delG | Deletion | p.Arg146Glyfs*19 | [49] |
c.439C > T | Missense | p.Gln147* | [39] |
c.448C > T | Missense | p.Gln150* | [28] |
c.474A > T | Missense | p.Gly158Gly | [24] |
c.475G > T | Missense | p.Glu159* | [38] |
c.476_477delAG | Deletion | p.Glu159Valfs*9 | [20] |
c.480_486dupCAGTCTC | Duplication | p.Ile163Glnfs*8 | [43] |
c.480_481delCA | Deletion | p.Leu162Hisfs*6 | [26] |
c.481A > G | Missense | p.Ser161Gly | [19] |
c.505C > T | Missense | p.Gln169* | [43] |
c.510delC | Deletion | p.Asp171Thrfs*87 | [31] |
c.525_525 + 1delGG | Deletion | p.Asp176Thrfs*82 | [25] |
c.525 + 1G > C | Splice Site | p.? | [43] |
c.525 + 1G > A | Splice Site | p.? | [17] |