Mutation | exon | reference |
---|---|---|
c.156T→G; p.C52W | 4 | [15] |
c.176A→C; p.D59A | 4 | [11] |
c.230G→A; p.C77Y | 4 | [16] |
c.278_289del/insCCGGCTCCT; p.V93_G97del/insAASC | 4 | [12] |
c.307G→T; p.G103C | 4 | [10] |
c.334T→C; p.C112R | 4 | [11] |
c.376T→C; p.C126R | 4 | [16] |
c.383A→G; p.N128S | 4 | [16] |
c.403T→A; p.C135S | 4 | [15] |
c.443G→A; p.C148Y | 4 | [10] |
c.444T→G; p.C148W | 4 | [14] |
c.449G→C; p.C150S | 4 | [14] |
c.509G→A; p.C170Y | 4 | [11] |
c.529_555del; p.H177_R185del | 4 | [10] |
c.553C→G; p.R185G | 4 | [18] |
c.553C→A; p.R185S | 4 | [11] |
c.563_661del; p.E188_L221del | 4 | [11] |
c.584G→T; p.C195F | 4 | [15] |
c.605G→C; p.W202S | 4 | [15] |
c.610C→G; p.R204G | 4 | [11] |
c.649T→C; p.C217R | 4 | [10] |
c.649T→G; p.C217G | 4 | [11] |
c.665G→C; p.R222P | 4 | [11] |
c.668G→A; p.C223Y | 4 | [17] |
c.674C→T; p.T225M | 4 | [11] |
c.674C→A; p.T225K | 4 | [12] |
c.707C→T; p.P236L | 4 | [15] |
c.744C→G; p.C248W | 4 | [12] |
c.764G→A; p.C255Y | 4 | [16] |
c.844T→C; p.C282R | 4 | [11] |
c.898T→G; p.C300G | 5 | [16] |
c.920A→C; p.K307T | 5 | present report |
c.943T→C; p.C315R | 5 | [14] |
c.950G→A; p.C317Y | 5 | [14] |