c.3557-2A>G
n.a
g.51939195T>C
rs1593652717
intron16
N-domain
Splicing
n.a
n.a
Pathogenic
c.3557G>T
p.G1186Val
g.51939193C>A
rs766800003
exon17
N-domain
Missense
/
Probably damaging (0.998)
Likely pathogenic
c.3556G>A
p.Gly1186Ser
g.51941081C>T
rs786204547
exon16
N-domain
Missense
Damaging (0.045)
Probably damaging (0.999)
Pathogenic
c.3556G>C
p.Gly1186Arg
g.51941081C>G
rs786204547
exon16
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3556+1G>A
n.a
g.51941080C>T
rs184388696
intron16
N-domain
Splicing
n.a
n.a
Pathogenic
c.3551T>C
p.Ile1184Thr
g.51941086A>G
rs755817220
exon16
N-domain
Missense
Damaging (0.001)
Probably damaging (0.999)
Likely pathogenic
c.3542T>A
p.Leu1181Gln
g.51941095A>T
n.a
exon16
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3542T>C
p.Leu1181Pro
g.51941095A>G
n.a
exon16
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3532A>C
p.Thr1178Pro
g.51941105T>G
rs1387431334
/
N-domain
Missense
/
Possibly damaging(0.940)
Likely pathogenic
c.3532A>G
p.Thr1178Ala
g.51941105T>C
rs1387431334
exon16
N-domain
Missense
Damaging (0.003)
Probably damaging (0.997)
Likely pathogenic
c.3532_3535delACAG
p.Thr1178Profs*13
g.51941102_51941105del
n.a
exon16
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3517G>A
p.Glu1173Lys
g.51941120C>T
rs756029120
exon16
N-domain
Missense
Damaging (0.002)
Probably damaging (0.994)
Likely pathogenic
c.3505A>G
p.Met1169Val
g.51941132T>C
rs749085322
exon16
N-domain
Missense
Damaging (0.002)
Probably damaging (0.965)
Pathogenic
c.3502G>C
p.Ala1168Pro
g.51941135C>G
rs777879359
exon16
N-domain
Missense
/
Probably damaging (0.996)
Likely pathogenic
c.3498C>T
p.Ser1166Ser
g.51941139A>G
rs587783314
exon16
N-domain
Silent
n.a
n.a
Likely benign
c.3467G>A
p.Arg1156His
g.51941170C>T
rs773917820
exon16
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3461T>G
p.Leu1154Arg
g.51941176A>C
n.a
exon16
N-domain
Missense
Damaging (0.000)
Probably damaging (0.987)
Likely pathogenic
c.3460C>T
p.Leu1154Leu
g.51941177G>A
rs1400689299
exon16
N-domain
Silent
n.a
n.a
Likely benign
c.3459G>T
p.Trp1153Cys
g.51941178C>A
rs1330620114
exon16
N-domain
Missense
Damaging (0.001)
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.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.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.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.3406G>A
p.Glu1136Lys
g.51942392C>T
n.a
exon15
N-domain
Missense
/
Benign(0.000)
Uncertain significance
c.3384del
p.Asn1128Lysfs*20
g.51942414del
n.a
exon15
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3377_3378delAC
p.His1126Profs*3
g.51942420_51942421del
n.a
exon15
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3376delC
p.His1126Thrfs*2
g.51942422del
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.3368del
p.Pro1123Argfs*5
g.51942430del
n.a
exon15
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3353delG
p.Arg1118Profs*10
g.51942445del
n.a
exon15
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3348dup
p.Glu1117*
g.51942450dup
n.a
exon15
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3326T>C
p.Val1109Ala
g.51942472A>G
n.a
exon15
N-domain
Missense
Damaging (0.045)
Probably damaging (0.978)
Likely pathogenic
c.3318C>T
p.Val1106Val
g.51942480G>A
n.a
exon15
N-domain
Silent
n.a
n.a
Likely benign
c.3316G>A
p.Val1106Ile
g.51942482C>T
rs541208827
exon15
N-domain
Missense
Tolerated (0.156)
Probably damaging (0.998)
Likely pathogenic
c.3311G>A
p.Cys1104Tyr
g.51942487C>T
rs764041557
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
