c.1010delT | Deletion | p.Leu337Argfs*17 | [25] |
c.1013T > A | Missense | p.Val338Asp | [30] |
c.1022A > T | Missense | p.Asn341Ile | [30] |
c.1023C > G | Missense | p.Asn341Lys | [31] |
c.1027C > T | Missense | p.Gln343* | [14] |
c.1030T > C | Missense | p.Cys344Arg | [61] |
c.1031G > T | Missense | p.Cys344Phe | [31] |
c.1031G > A | Missense | p.Cys344Tyr | [33] |
c.1039G > C | Missense | p.Ala347Pro | [31] |
c.1040C > A | Missense | p.Ala347Asp | [45] |
c.1040_1042delCCG | Deletion | p.Ala347del | [62] |
c.1042delG | Deletion | p.Asp348Thrsf*6 | [39] |
c.1043_1048 + 1dupACCTGGG | Insertion | p.? | [14] |
c.1046T > C | Missense | p.Leu349Pro | [45] |
c.1048G > C | Missense | p.Gly350Arg | [39] |
c.1048G > A | Missense | p.Gly350Ser | [26] |
c.1048 + 1G > C | Missense | p.? | [14] |
c.1048 + 1G > A | Splice Site | p.? | [25] |
c.1048 + 5G > T | Splice Site | p.? | [47] |
c.1048 + 5G > A | Missense | p.? | [14] |
c.1049-4_1049-2delACAinsCC | Delins | p.? | [28] |
c.1054G > C | Missense | p.Ala352Pro | [35] |
c.1055C > A | Missense | p.Ala352Asp | [46] |
c.1061T > A | Missense | p.Met354Lys | [29] |
c.1061_1068delTGCACTCA | Deletion | p.Met354Thrfs*35 | [39] |
c.1062_1080dup19 | Duplication | p.Try361Alafs*37 | [40] |
c.1069C > T | Missense | p.Gln357* | [48] |
c.1073delG | Deletion | p.Gly358Alafs*57 | [39] |
c.1083C > A | Missense | p.Tyr361* | [14] |
c.1102_1105delCCGA | Deletion | p.Pro368Glufs*46 | [14] |
c.1107_1108delAG | Deletion | p.Arg369Serfs*22 | [39] |
c.1111G > A | Missense | p.Gly371Ser | [19] |
c.1112dupG | Duplication | p.Thr372Hisfs*20 | [23] |
c.1115C > T | Missense | p.Thr372Ile | [28] |
c.1118delA | Deletion | p.Lys373Serfs*42 | [19] |
c.1120C > T | Missense | p.Arg374Trp | [38] |
c.1120_1137del18 | Deletion | p.Arg374_Glu379del | [39] |
c.1121G > A | Missense | p.Arg374Gln | [23] |
c.1122_1125dupGTAC | Duplication | p.Met376Valfs*17 | [31] |
c.1123T > C | Missense | p.Tyr375His | [23] |
c.1124A > G | Missense | p.Tyr375Cys | [52] |
c.1126A > G | Missense | p.Met376Val | [31] |
c.1127T > G | Missense | p.Met376Arg | [56] |