Variant Class,HGVS variant  name (cDNA),Protein
Truncating,c.412 C>T,p.R138X
Truncating,c.1875 C>G,p.Y625X
Truncating,c.2054delAG,p.Q685fs
Truncating,c.2938 del5,p.L980fs
Truncating,c.3852delGAAA,p.E1284fs
Missense,c.113 A>G,p.N38S
Missense,c.250 C>G,p.L84V
Missense,c.260 G>A,p.R87H
Missense,c.280 A>C,p.I94L
Missense,c.379 G>A,p.V127I
Missense,c.511 G>T,c.A171S
Missense,c.572 C>T,p.T191I
Missense,c.597 A>C,p.Q199H
Missense,c.671 G>A,p.R224H
Missense,c.715 G>C,p.E239Q
Missense,c.785 T>G,p.L262H
Missense,c.943 G>T,p.V315L
Missense,c.980 G>A,p.R327H
Missense,c.1094 G>A,p.R365Q
Missense,c.1277 A>G,p.Q426R
Missense,c.1336 A>G,p.K446E
Missense,c.1456 C>T,p.R486C
Missense,c.1670 C>G,p.S557C
Missense,c.1911 T>A,p.D637E
Missense,c.2047 G>A,p.V683I
Missense,c.2173 C>T,p.R725W
Missense,c.2283 A>G,p.I761M
Missense,c.2288 G>A,p.R763H
Missense,c.2397 G>C,p.Q799H
Missense,c.2525 T>C,p.V842A
Missense,c.2750 C>T,p.T917I
Missense,c.2837 A>T,p.D946V
Missense,c.3239 G>A,p.G1080D
Missense,c.3260 A>G,p.H1087R
Missense,c.3278 G>A,p.R1093Q
Missense,c.3311 A>G,p.Y1104C
Missense,c.3496 C>T,p.R1166W
Missense,c.3790 C>T,p.L1264F
Missense,c.3836 G>A,p.R1279H
Missense,c.3902 A>G,p.K1301R
Silent,c.24 C>T,p.S8S
Silent,c.129 G>A,p.T43T
Silent,c.741 A>G,p.E247E
Silent,c.921 A>G,p.L307L
Silent,c.1713 C>T,p.P571P
Silent,c.1878 A>G,p.E626E
Silent,c.2025 C>T,p.D675D
Silent,c.2091 C>T,p.V697V
Silent,c.2163 A>G,p.K721K
Silent,c.2841 T>C,p.I947I
Silent,c.2910 C>T,p.D970D
Silent,c.3153 G>A,p.L1051L
Silent,c.3363 G>T,p.L1121L
Silent,c.3546 T>C,p.Y1182Y
Silent,c.3879 C>T,p.I1293I
Intronic,c.552-1 G>A,NA
Intronic,c.756+5 C>T,NA
Intronic,c.756+6 delT,NA
Intronic,c.757-12 C>A,NA
Intronic,c.885+5 G>A,NA
Intronic,c.1246-10 A>G,NA
Intronic,c.1635+22 C>G,NA
Intronic,c.1794-59 A>C ,NA
Intronic,c.3036+5 G>A,NA
Intronic,c.3036+37 T>C,NA
Intronic,c.3037-3 T>C,NA
Intronic,c.3165-8 T>G,NA
Intronic,c.3165-4 A>T,NA
Intronic,c.3475-12delTTC,NA