c.866T > C | Missense | p.Leu289Pro | [24] |
c.870delG | Deletion | p.Arg219Aspfs*10 | [14] |
c.874delC | Deletion | p.Gln292Argfs*9 | [30] |
c.874C > T | Missense | p.Gln292* | [19] |
c.875A > C | Missense | p.Gln292Pro | [26] |
c.881T > G | Missense | p.Leu294Arg | [45] |
c.905T > G | Missense | p.Leu302Arg | [26] |
c.913T > C | Missense | p.Ser305Pro | [48] |
c.913delT | Deletion | p.Ser305Profs*49 | [59] |
c.914C > T | Missense | p.Ser305Phe | [17] |
c.916G > C | Missense | p.Ala306Pro | [31] |
c.917C > A | Missense | p.Ala306Glu | [30] |
c.921_927dupATGCGGC | Duplication | p.Leu310Metfs*84 | [47] |
c.924C > A | Missense | p.Cys308* | [38] |
c.925G > T | Missense | p.Gly309Cys | [25] |
c.925G > A | Missense | p.Gly309Ser | [39] |
c.936C > G | Missense | p.His312Gln | [60] |
c.940C > T | Missense | p.His314Tyr | [31] |
c.941_951del11 | Deletion | p.His314Leufs*74 | [30] |
c.950T > C | Missense | p.Ile317Thr | [14] |
c.956G > A | Missense | p.Gly319Asp | [25] |
c.961C > T | Missense | p.Gln321* | [39] |
c.969dupA | Duplication | p.Pro324Thrfs*68 | [43] |
c.972delA | Deletion | p.Ala325Profs*29 | [31] |
c.976A > G | Missense | p.Ile326Val | [59] |
c.982C > T | Missense | p.His328Tyr | [17] |
c.983A > C | Missense | p.His328Pro | [27] |
c.985C > T | Missense | p.Arg329Cys | [14] |
c.986G > A | Missense | p.Arg329His | [23] |
c.988G > T | Missense | p.Asp330Tyr | [35] |
c.988G > C | Missense | p.Asp330His | [30] |
c.988G > A | Missense | p.Asp330Asn | [39] |
C.991_1044del54bp | Missense | p.Phe331_Asp348del54bp | [30] |
c.992T > C | Missense | p.Phe331Ser | [24] |
c.994_995insGACTTA | Insertion | p.Phe331_Lys332insArgLeu | [14] |
c.997A > G | Missense | p.Ser333Gly | [26] |
c.998G > T | Missense | p.Ser333Ile | [38] |
c.998G > A | Missense | p.Ser333Asn | [14] |
c.1000delC | Deletion | p.Arg334Alafs*20 | [54] |
c.1000_1005delCGCAATinsG | Delins | p.Arg334Glyfs*56 | [31] |
c.1003A > C | Missense | p.Asn335His | [45] |
c.1010dupT | Duplication | p.Val338Glyfs*54 | [14] |
c.1010T > C | Missense | p.Leu337Pro | [31] |