c.140G > C | Missense | p.Arg47Pro | [27] |
c.142G > A | Missense | p.Gly48Arg | [31] |
c.143G > A | Missense | p.Gly48Glu | [32] |
c.143_147delGGGCCinsAGCCT | Delins | p.Gly48_Ala49delinsGluPro | [33] |
c.145dupG | Duplication | p.Ala49Glyfs*120 | [34] |
c.145delG | Deletion | p.Ala49Profs*5 | [35] |
c.147delC | Deletion | p.Trp50Glyfs*4 | [36] |
c.148T > G | Missense | p.Trp50Gly | [37] |
c.149G > A | Missense | p.Trp50* | [29] |
c.150G > T | Missense | p.Trp50Cys | [38] |
c.150G > A | Missense | p.Trp50* | [39] |
c.152G > A | Missense | p.Cys51Tyr | [34] |
c.154A > G | Missense | p.Thr52Ala | [24] |
c.155delC | Deletion | p.Thr52Lysfs*2 | [30] |
c.164_169delTGGTGC | Deletion | p.Leu55_Val56del | [40] |
c.172G > T | Missense | p.Glu58* | [35] |
c.183delG | Deletion | p.Arg61Serfs*61 | [19] |
c.190delC | Deletion | p.Gln64Argfs*58 | [39] |
c.191delA | Deletion | p.Gln64Argfs*58 | [24] |
c.193G > T | Missense | p.Glu65* | [14] |
c.197A > C | Missense | p.His66Pro | [37] |
c.199C > T | Missense | p.Arg67Trp | [35] |
c.200G > A | Missense | p.Arg67Gln | [38] |
c.202G > T | Missense | p.Gly68Cys | [27] |
c.203dupG | Duplication | p.Cys69Leufs*100 | [40] |
c.203delG | Deletion | p.Gly68Alafs*54 | [39] |
c.205_209dupTGCGG | Duplication | p.Asn71Alafs*53 | [20] |
c.205T > C | Missense | p.Cys69Arg | [37] |
c.206G > T | Missense | p.Cys69Phe | [19] |
c.206G > A | Missense | p.Cys69Tyr | [25] |
c.208G > A | Missense | p.Gly70Arg | [19] |
c.214_219delTTGCAC | Deletion | p.Leu72_His73del | [19] |
c.215delT | Deletion | p.Leu72Cysfs*50 | [29] |
c.218_219insAA | Insertion | p.His73Glnfs*50 | [28] |
c.229_240del12 | Deletion | p.Cys77_Arg80del | [29] |
c.230G > A | Missense | p.Cys77Tyr | [20] |
c.231C > G | Missense | p.Cys77Trp | [34] |
c.235G > A | Missense | p.Gly79Arg | [40] |
c.237dupG | Duplication | p.Arg80Alafs*89 | [23] |
c.243dupC | Duplication | p.Thr82Hisfs*87 | [21] |
c.244_246delACC | Deletion | p.Thr82del | [27] |
c.246delC | Deletion | p.Glu83Serfs*39 | [41] |
c.252dupC | Duplication | p.Val85Argfs*84 | [42] |