c.667G > C | Missense | p.Gly223Arg | [31] |
c.670G > A | Missense | p.Glu224Lys | [25] |
c.673A > T | Missense | p.Ser225Cys | [16] |
c.673_674delAG | Deletion | p.Ser225Cysfs*11 | [47] |
c.676G > C | Missense | p.Val226Leu | [30] |
c.677T > A | Missense | p.Val226Glu | [45] |
c.682delG | Deletion | p.Val228Serfs*30 | [31] |
c.683T > A | Missense | p.Val228Asp | [19] |
c.686A > T | Missense | p.Lys229Met | [55] |
c.686A > G | Missense | p.Lys229Arg | [31] |
c.696_698delCTC | Deletion | p.Ser233del | [56] |
c.698C > T | Missense | p.Ser233Leu | [37] |
c.698C > A | Missense | p.Ser233* | [57] |
c.704delA | Deletion | p.Asp235Valfs*23 | [31] |
c.709C > T | Missense | p.Gln237* | [25] |
c.716G > A | Missense | p.Trp239* | [46] |
c.743_744delCA | Deletion | p.Thr248Serfs*143 | [29] |
c.760_762delGAC | Deletion | p.Asp254del | [18] |
c.759_761delCGA | Deletion | p.Asp254del | [31] |
c.772 + 3_772 + 4dupAA | Duplication | p.? | [43] |
c.772 + 5G > A | Missense | p.? | [14] |
c.772 + 21T > A | Splice Site | p.? | [25] |
c.773-2A > G | Splice Site | p.? | [31] |
c.773-2A > C | Splice Site | p.? | [19] |
c.778A > C | Missense | p.Ile260Leu | [24] |
c.793A > C | Missense | p.Thr265Pro | [37] |
c.811_823del13bp | Deletion | p.Thr271Serfs*26 | [35] |
c.818T > C | Missense | p.Leu273Pro | [48] |
c.821_824dupGGCT | Duplication | p.Ile276Alafs*117 | [40] |
c.822G > A | Missense | p.Trp274* | [45] |
c.827T > C | Missense | p.Ile276Thr | [48] |
c.835_837dupTAC | Duplication | p.Tyr279dup | [14] |
c.838C > G | Missense | p.His280Asp | [25] |
c.839A > G | Missense | p.His280Arg | [45] |
c.842delA | Deletion | p.Glu281Glyfs*20 | [26] |
c.851C > T | Missense | p.Ser284Phe | [48] |
c.853dupC | Duplication | p.Leu285Profs*107 | [20] |
c.853C > T | Missense | p.Leu285Phe | [31] |
c.854T > C | Missense | p.Leu285Pro | [58] |
c.858C > G | Missense | p.Tyr286* | [25] |
c.858C > A | Missense | p.Tyr286* | [35] |
c.863_909del47 | Deletion | p.Phe288Cysfs*88 | [14] |
c.864dupT | Duplication | p.Leu289Serfs*103 | [38] |