c.1127T > A | Missense | p.Met376Lys | [40] |
c.1127T > C | Missense | p.Met376Thr | [27] |
c.1129G > A | Missense | p.Ala377Thr | [27] |
c.1132C > T | Missense | p.Pro378Ser | [45] |
c.1133C > A | Missense | p.Pro378His | [48] |
c.1135G > A | Missense | p.Glu379Lys | [31] |
c.1139T > G | Missense | p.Val380Gly | [39] |
c.1142T > C | Missense | p.Leu381Pro | [60] |
c.1144G > C | Missense | p.Asp382His | [19] |
c.1153_1157dupATCCG | Duplication | p.Thr387Serfs*30 | [45] |
c.1157G > A | Missense | p.Arg386His | [48] |
c.1171G > T | Missense | p.Glu391* | [23] |
c.1187C > A | Missense | p.Thr396Asn | [19] |
c.1189G > A | Missense | p.Asp397Asn | [39] |
c.1190A > G | Missense | p.Asp397Gly | [21] |
c.1193T > A | Missense | p.Ile398Asn | [8] |
c.1195T > C | Missense | p.Trp399Arg | [52] |
c.1195T > G | Missense | p.Trp399Gly | [14] |
c.1196G > C | Missense | p.Trp399Ser | [51] |
c.1199C > A | Missense | p.Ala400Asp | [35] |
c.1204G > A | Missense | p.Gly402Ser | [31] |
c.1205G > A | Missense | p.Gly402Asp | [47] |
c.1208T > C | Missense | p.Leu403Pro | [37] |
c.1214T > A | Missense | p.Leu405Gln | [14] |
c.1215delG | Deletion | p.Trp406Glyfs*9 | [19] |
c.1218G > C | Missense | p.Trp406Cys | [39] |
c.1219G > A | Missense | p.Glu407Lys | [14] |
c.1220A > G | Missense | p.Glu407Gly | [17] |
c.1221G > T | Missense | p.Glu407Asp | [33] |
c.1231C > T | Missense | p.Arg411Trp | [18] |
c.1232G > C | Missense | p.Arg411Pro | [31] |
c.1232G > A | Missense | p.Arg411Gln | [56] |
c.1246G > A | Splice Site | p.Gly416Ser | [37] |
c.1246 + 1G > A | Splice Site | p.? | [24] |
c.1249A > T | Missense | p.Ile417Phe | [19] |
c.1261T > G | Missense | p.Tyr421Asp | [47] |
c.1269delA | Deletion | p.Phe425Serfs*14 | [29] |
c.1270C > A | Missense | p.Pro424Thr | [38] |
c.1270C > T | Missense | p.Pro424Ser | [48] |
c.1271C > G | Missense | p.Pro424Arg | [45] |
c.1271C > T | Missense | p.Pro424Leu | [39] |
c.1273T > C | Missense | p.Phe425Leu | [14] |
c.1273T > G | Missense | p.Phe425Val | [41] |
c.1274_1276delTCT | Deletion | p.Phe425del | [41] |
c.1275C > G | Missense | p.Phe425Leu | [31] |
c.1277A > G | Missense | p.Tyr426Cys | [24] |
c.1280A > T | Missense | p.Asp427Val | [28] |
c.1297C > T | Missense | p.Pro433Ser | [39] |