c.3337C>A
p.Leu1113Met
g.51942461G>T
n.a
exon15
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3332G>A
p.Gly1111Asp
g.51942466C>T
rs182659444
exon15
N-domain
Missense
/
Benign(0.003)
Uncertain significance
c.3332G>C
p.Gly1111Ala
g.51942466C>G
rs182659444
exon15
N-domain
Missense
/
Benign(0.001)
Uncertain significance
c.3326T>C
p.Val1109Ala
g.51942472A>G
n.a
exon15
N-domain
Missense
Damaging (0.045)
Probably damaging (0.978)
Likely pathogenic
c.3325G>A
p.Val1109Met
g.51942473C>T
rs759109027
exon15
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3318C>T
p.Val1106Val
g.51942480G>A
n.a
exon15
N-domain
Silent
n.a
n.a
Likely benign
c.3317T>A
p.Val1106Asp
g.51942481A>T
rs775541743
exon15
N-domain
Missense
/
Probably damaging (1.000)
Pathogenic
c.3316G>A
p.Val1106Ile
g.51942482C>T
rs541208827
exon15
N-domain
Missense
Tolerated (0.156)
Probably damaging (0.998)
Likely pathogenic
c.3316G>C
p.Val1106Leu
g.51942482C>G
rs541208827
exon15
N-domain
Missense
/
Probably damaging (0.999)
Likely pathogenic
c.3311G>A
p.Cys1104Tyr
g.51942487C>T
rs764041557
exon15
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3311G>T
p.Cys1104Phe
g.51942487C>A
rs764041557
exon15
N-domain
Missense
/
Probably damaging (1.000)
Pathogenic
c.3310T>A
p.Cys1104Ser
g.51942488A>T
n.a
exon15
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3310T>C
p.Cys1104Arg
g.51942488A>G
n.a
exon15
N-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.3309delG
p.Cys1104Alafs*17
g.51942489del
n.a
exon15
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3309G>A
p.Gly1103Gly
g.51942489C>T
n.a
exon15
N-domain
Silent
n.a
n.a
Likely benign
c.3305T>C
p.Ile1102Thr
g.51942493A>G
rs560952220
exon15
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3301G>A
p.Gly1101Arg
g.51942497C>T
rs786204483
exon15
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3296G>A
p.Gly1099Asp
g.51942502C>T
n.a
exon15
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3295G>A
p.Gly1099Ser
g.51942503C>T
rs761632029
exon15
N-domain
Missense
/
Probably damaging (0.994)
Likely pathogenic
c.3293C>A
p.Pro1098Gln
g.51942505G>T
n.a
exon15
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3293C>G
p.Pro1098Arg
g.51942505G>C
n.a
exon15
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3291G>A/C/T
p.Val1097Val
g.51942507C>T/G/A
rs766632973
exon15
N-domain
Silent
n.a
n.a
Likely benign
c.3287C>A
p.Ala1096Glu
g.51942511G>T
n.a
exon15
N-domain
Missense
Damaging (0.003)
Probably damaging (0.998)
Likely pathogenic
c.3285G>A
p.Gln1095Gln
g.51942513C>T
n.a
exon15
N-domain
Silent
n.a
n.a
Likely benign
c.3284A>C
p.Gln1095Pro
g.51942514T>G
rs1555285891
exon15
N-domain
Missense
/
Probably damaging (0.999)
Likely pathogenic
c.3282C>G
p.Phe1094Leu
g.51942516G>C
rs1957397703
exon15
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3275C>T
p.Thr1092Met
g.51942523G>A
rs368545738
exon15
N-domain
Missense
/
Benign(0.257)
Likely pathogenic
c.3274A>C
p.Thr1092Pro
g.51942524T>G
n.a
exon15
N-domain
Missense
Damaging (0.041)
Possibly damaging (0.860)
Likely pathogenic
c.3272G>A
p.Cys1091Tyr
g.51942526C>T
rs778825095
exon15
N-domain
Missense
/
Probably damaging (0.999)
Likely Pathogenic
c.3271T>C
p.Cys1091Arg
g.51942527A>G
n.a
exon15
N-domain
Missense
/
Probably damaging (0.979)
Likely pathogenic
c.3266G>A
p.Gly1089Glu
g.51942532C>T
rs1555285911
exon15
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3266G>T
p.Gly1089Val
g.51942532C>A
rs1555285911
exon15
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3265G>A
p.Gly1089Arg
g.51942533C>T
rs1468895797
exon15
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3263T>A
p.Leu1088*
g.51942535A>T
rs753250853
exon15
N-domain
Nonsense
n.a
n.a
Pathogenic
c.3263T>C
p.Leu1088Ser
g.51942535A>G
rs753250853
exon15
N-domain
Missense
Tolerated (0.071)
Probably damaging (1.000)
Likely pathogenic
c.3259delA
p.Thr1087Profs*34
g.51942539del
n.a
exon15
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3256G>A
p.Glu1086Lys
g.51942542C>T
n.a
exon15
N-domain
Missense
/
/
Uncertain significance
c.3254dupC
p.Glu1086Argfs*32
g.51942544dup
n.a
exon15
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3247C>T
p.Leu1083Phe
g.51942551G>A
rs1286080173
exon15
N-domain
Missense
/
Probably damaging (1.000)
Pathogenic
c.3244G>T
p.Glu1082*
g.51942554C>A
n.a
exon15
N-domain
Nonsense
n.a
n.a
Pathogenic
c.3244-5C>T
n.a
g.51942559G>A
rs747387270
intron14
N-domain
Splicing
n.a
n.a
Uncertain significance
c.3244-2A>G
n.a
g.51942556T>C
rs786204584
intron14
N-domain
Splicing
n.a
n.a
Pathogenic
c.3244-1G>A
n.a
g.51942555C>T
n.a
intron14
N-domain
Splicing
n.a
n.a
Pathogenic
c.3244-34A>G
n.a
g.51942588T>C
n.a
intron14
N-domain
Splicing
n.a
n.a
Uncertain significance
c.3243G>A
p.Glu1081Glu
g.51944109C>T
rs768229037
exon14
N-domain
Silent/Splicing
n.a
n.a
Pathogenic
c.3243+5G>A
n.a
g.51944104C>T
rs373193482
intron14
N-domain
Splicing
n.a
n.a
Uncertain significance
c.3243+38A>G
n.a
g.51944071T>C
rs17076116
intron14
/
/
n.a
n.a
Uncertain significance
c.3237T>C
p.Cys1079Cys
g.51944115A>G
rs1957506216
exon14
N-domain
Silent
n.a
n.a
Likely benign
c.3236G>A
p.Cys1079Tyr
g.51944116C>T
rs1064797072
exon14
N-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.3236G>T
p.Cys1079Phe
g.51944116C>A
rs1064797072
exon14
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
