c.3458G>A
p.Trp1153*
g.51941179C>T
rs1290927406
exon16
N-domain
Nonsense
n.a
n.a
Pathogenic
c.3457T>C
p.Trp1153Arg
g.51941180A>G
n.a
exon16
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3452G>A
p.Arg1151His
g.51941185C>T
rs377297166
exon16
N-domain
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.3451C>G
p.Arg1151Gly
g.51941186G>C
rs755554442
exon16
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3451C>T
p.Arg1151Cys
g.51941186G>A
rs755554442
exon16
N-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Pathogenic
c.3450C>A
p.Asn1150Lys
g.51941187G>T
n.a
exon16
N-domain
Missense
Damaging (0.001)
Probably damaging (0.999)
Likely pathogenic
c.3449A>T
p.Asn1150Ile
g.51941188T>A
rs1478510427
exon16
N-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.3449delA
p.Asn1150Thrfs*5
g.51941188del
rs1555285380
exon16
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3446G>A
p.Gly1149Glu
g.51941191C>T
rs1566462533
exon16
N-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.3446G>C
p.Gly1149Ala
g.51941191C>G
rs1566462533
exon16
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3445G>A
p.Gly1149Arg
g.51941192C>T
rs1957309469
exon16
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3444T>A
p.Ile1148Ile
g.51941193A>T
n.a
exon16
N-domain
Silent
n.a
n.a
Likely benign
c.3443T>A
p.Ile1148Asn
g.51941194A>T
rs60431989
exon16
N-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.3443T>C
p.Ile1148Thr
g.51941194A>G
rs60431989
exon16
N-domain
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.3437_3438delTG
p.Val1146Alafs*6
g.51941199_51941200del
rs1957309883
exon16
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3436G>A
p.Val1146Met
g.51941201C>T
rs1213481140
exon16
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3428C>A
p.Thr1143Asn
g.51941209G>T
rs587783313
exon16
N-domain
Missense
/
Benign(0.082)
Likely pathogenic
c.3426G>C
p.Gln1142His
g.51941211C>G
rs778749563
exon16
N-domain
Missense
/
Benign(0.009)
Uncertain significance
c.3424C>T
p.Gln1142*
g.51941213G>A
rs747255077
exon16
N-domain
Nonsense
n.a
n.a
Pathogenic
c.3424dupC
p.Gln1142Profs*11
g.51941213dup
rs867501285
exon16
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3419delT
p.Val1140Alafs*8
g.51941218del
n.a
exon16
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3419T>C
p.Val1140Ala
g.51941218A>G
rs1801249
exon16
N-domain
Missense
/
Benign(0.000)
Benign
c.3413-27G>C
n.a
g.51941251C>G
rs1484643107
intron15
/
/
n.a
n.a
Likely benign
c.3413-4A>T
n.a
g.51941228T>A
n.a
intron15
N-domain
Splicing
n.a
n.a
Uncertain significance
c.3412+1G>A
n.a
g.51942385C>T
rs1957388064
intron15
N-domain
Splicing
n.a
n.a
Pathogenic
c.3412+13T>A
n.a
g.51942373A>T
n.a
intron15
/
/
n.a
n.a
Uncertain significance
c.3412+18C>G
n.a
g.51942368G>C
rs769198765
intron15
/
/
n.a
n.a
Uncertain significance
L619160339 (Embase)
c.3406G>A
p.Glu1136Lys
g.51942392C>T
n.a
exon15
N-domain
Missense
/
Benign(0.000)
Uncertain significance
c.3404delC
p.Ala1135Glufs*13
g.51942394del
n.a
exon15
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3403G>A
p.Ala1135Thr
g.51942395C>T
rs187200982
exon15
N-domain
Missense
/
Benign(0.000)
Uncertain significance
L72310432 (Embase)
c.3402C>T
p.Pro1134Pro
g.51942396G>A
rs145887771
exon15
N-domain
Silent
n.a
n.a
Likely benign
L365167883 (Embase)
c.3402delC
p.Ala1135Glnfs*13
g.51942396del
rs137853281
exon15
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3399T>C
p.Leu1133Leu
g.51942399A>G
rs587783312
exon15
N-domain
Silent
n.a
n.a
Likely benign
c.3389C>T
p.Ala1130Val
g.51942409G>A
n.a
exon15
N-domain
Missense
/
Benign(0.000)
Likely pathogenic
c.3384delT
p.Asn1128Lysfs*20
g.51942414del
n.a
exon15
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3381G>A
p.Leu1127Leu
g.51942417C>T
rs587783311
exon15
N-domain
Silent
n.a
n.a
Likely benign
c.3377_3378delAC
p.His1126Profs*3
g.51942420_51942421del
n.a
exon15
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3376C>T
p.His1126Tyr
g.51942422G>A
rs373698024
exon15
N-domain
Missense
/
Benign(0.336)
Uncertain significance
L617366014 (Embase)
c.3376delC
p.His1126Thrfs*2
g.51942422del
n.a
exon15
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3373_3377delinsTCT
p.His1126Profs*3
g.51942421_51942425del
n.a
exon15
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3368C>T
p.Pro1123Leu
g.51942430G>A
rs146623472
exon15
N-domain
Missense
/
Benign(0.002)
Uncertain significance
c.3368delC
p.Pro1123Argfs*5
g.51942430del
n.a
exon15
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3366A>G
p.Ala1122Ala
g.51942432T>C
rs59120265
exon15
N-domain
Silent
n.a
n.a
Benign
c.3365_3366ins11
p.Ala1122fs
g.51942432_51942433ins11
n.a
exon15
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3359T>A
p.Leu1120*
g.51942439A>T
n.a
exon15
N-domain
Nonsense
n.a
n.a
Pathogenic
c.3353delG
p.Arg1118Profs*10
g.51942445del
n.a
exon15
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3353G>A
p.Arg1118His
g.51942445C>T
rs202233544
exon15
N-domain
Missense
/
Benign(0.001)
Uncertain significance
c.3350_3353delAGCG
p.Glu1117Alafs*3
g.51942445_51942448del
rs1555285830
exon15
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3348dupT
p.Glu1117*
g.51942450dup
n.a
exon15
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3348_3351delTGAG
p.Glu1117Alafs*3
g.51942447_51942450del
n.a
exon15
N-domain
Frameshift
n.a
n.a
Pathogenic
