c.1298C > G | Missense | p.Pro433Arg | [24] |
c.1299delC | Deletion | p.Ser434Alafs*5 | [23] |
c.1302_1303delCTinsA | Delins | p.Ser434Argfs*5 | [37] |
c.1309delG | Deletion | p.Asp437Thrfs*2 | [19] |
c.1310A > G | Missense | p.Asp437Gly | [19] |
c.1313T > C | Missense | p.Met438Thr | [39] |
c.1313T > G | Missense | p.Met438Arg | [19] |
c.1315A > T | Missense | p.Lys439* | [14] |
c.1318_1320delAAG | Deletion | p.Lys440del | [24] |
c.1321G > A | Missense | p.Val441Met | [48] |
c.1324_1326delGTG | Deletion | p.Val442del | [19] |
c.1324G > A | Missense | p.Val442Met | [53] |
c.1325T > C | Missense | p.Val442Ala | [57] |
c.1331_1332dupTG | Duplication | p.Asp445Trpfs*21 | [14] |
c.1336C > T | Missense | p.Gln446* | [19] |
c.1345C > A | Missense | p.Pro449Thr | [47] |
c.1345C > T | Missense | p.Pro449Ser | [45] |
c.1346C > T | Missense | p.Pro449Leu | [29] |
c.1347dupC | Duplication | p.Thr450Hisfs*4 | [14] |
c.1354_1355delCC | Deletion | p.Pro452* | [14] |
c.1355C > T | Missense | p.Pro452Leu | [48] |
c.1377 + 1G > A | Splice Site | p.? | [41] |
c.1378-2A > G | Splice Site | p.? | [29] |
c.1378-1G > T | Splice Site | p.? | [47] |
c.1385C > G | Missense | p.Ser462* | [63] |
c.1388delG | Deletion | p.Gly463Alafs*2 | [53] |
c.1390delC | Deletion | p.Leu464* | [64] |
c.1396C > T | Missense | p.Gln466* | [19] |
c.1408G > T | Missense | p.Glu470* | [39] |
c.1413C > A | Missense | p.Cys471* | [24] |
c.1428dupC | Duplication | p.Ser477Leufs*17 | [31] |
c.1433C > A | Missense | p.Ala478Asp | [58] |
c.1435C > T | Missense | p.Arg479* | [63] |
c.1436G > A | Missense | p.Arg479Gln | [61] |
c.1436G > C | Missense | p.Arg479Pro | [45] |
c.1436G > T | Missense | p.Arg479Leu | [31] |
c.1438C > T | Missense | p.Leu480Phe | [20] |
c.1450C > G | Missense | p.Arg484Gly | [65] |
c.1450C > T | Missense | p.Arg484Trp | [18] |
c.1450delCinsTG | Delins | p.Arg484Trpfs*10 | [63] |
c.1451G > A | Missense | p.Arg484Gln | [20] |
c.1451G > T | Missense | p.Arg484Leu | [57] |
c.1460A > C | Missense | p.Lys487Thr | [51] |
c.1468C > T | Missense | p.Gln490* | [18] |
c.1475T > A | Missense | p.Ile492Asn | [8] |