c.525 + 1delG | Deletion | p.? | [19] |
c.525 + 3A > G | Splice Site | p.? | [17] |
c.525 + 3A > T | Splice Site | p.? | [50] |
c.526-7C > G | Splice Site | p.? | [37] |
c.526-3C > G | Splice Site | p.? | [30] |
c.526-1G > A | Missense | p.? | [14] |
c.526G > T | Missense | p.Asp176Tyr | [37] |
c.526delG | Deletion | p.Asp176Thrfs*82 | [19] |
c.536A > C | Missense | p.Asp179Ala | [51] |
c.540_541insA | Insertion | p.Asp181Argfs*44 | [29] |
c.563delC | Deletion | p.Ser188* | [19] |
c.567delG | Deletion | p.Leu190Serfs*68 | [47] |
c.573delC | Deletion | p.Phe192Serfs*66 | [26] |
c.590C > T | Missense | p.Thr197Ile | [24] |
c.593T > A | Missense | p.Val198Glu | [52] |
c.598C > G | Missense | p.Arg200Gly | [43] |
c.601C > T | Missense | p.Gln201* | [45] |
c.601C > A | Missense | p.Gln201Lys | [30] |
c.602A > G | Missense | p.Gln201Arg | [53] |
c.602A > C | Missense | p.Gln201Pro | [19] |
c.611T > G | Missense | p.Leu204Trp | [19] |
c.614T > G | Missense | p.Val205Gly | [43] |
c.617A > G | Missense | p.Glu206Gly | [20] |
c.617_625delAGTGTGTGG | Deletion | p.Glu206_Val208del | [54] |
c.620delG | Deletion | p.Cys207Leufs*51 | [14] |
c.623_624dupTG | Duplication | p.Gly209Trpfs*50 | [39] |
c.626-9_629del13 | Deletion | p.? | [37] |
c.626-5_634del14 | Deletion | p.? | [39] |
c.626-3C > G | Splice Site | p.? | [55] |
c.632G > A | Missense | p.Gly211Asp | [51] |
c.639T > G | Missense | p.Tyr213* | [14] |
c.641delG | Deletion | p.Gly214Alafs*44 | [45] |
c.643G > A | Missense | p.Glu215Lys | [31] |
c.647T > G | Missense | p.Val216Gly | [19] |
c.649T > G | Missense | p.Trp217Gly | [45] |
c.650G > A | Missense | p.Trp217* | [20] |
c.651G > A | Missense | p.Trp217* | [24] |
c.653_654delGGinsCC | Delins | p.Arg218Pro | [52] |
c.656G > A | Missense | p.Gly219Asp | [24] |
c.661T > G | Missense | p.Trp221Gly | [14] |
c.662G > A | Missense | p.Trp221* | [19] |
c.663G > A | Missense | p.Trp221* | [47] |
c.664_668delCACGG | Deletion | p.His222* | [31] |