c.3551T>C
p.Ile1184Thr
g.51941086A>G
rs755817220
exon16
N-domain
Missense
Damaging (0.001)
Probably damaging (0.999)
Likely pathogenic
c.3550dupA
p.Ile1184fs*1
g.51941087dup
n.a
exon16
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3548C>G
p.Ala1183Gly
g.51941089G>C
rs587783315
exon16
N-domain
Missense
/
Probably damaging (0.997)
Likely pathogenic
c.3547G>A
p.Ala1183Thr
g.51941090C>T
n.a
exon16
N-domain
Missense
/
Possibly damaging(0.924)
Likely pathogenic
c.3547_3548delGC
p.Ala1183Tyrfs*2
g.51941089_51941090del
rs765139243
exon16
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3546G>A
p.Val1182Val
g.51941091C>T
n.a
exon16
N-domain
Silent
n.a
n.a
Likely benign
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.3538delA
p.Ile1180Serfs*12
g.51941099del
n.a
exon16
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3532A>C
p.Thr1178Pro
g.51941105T>G
rs1387431334
exon16
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.3527G>A
p.Gly1176Glu
g.51941110C>T
rs1318758433
exon16
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3526G>A
p.Gly1176Arg
g.51941111C>T
rs137853279
exon16
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3518A>G
p.Glu1173Gly
g.51941119T>C
n.a
exon16
N-domain
Missense
/
Possibly damaging(0.867)
Likely pathogenic
c.3517G>A
p.Glu1173Lys
g.51941120C>T
rs756029120
exon16
N-domain
Missense
Damaging (0.002)
Probably damaging (0.994)
Likely pathogenic
c.3506T>C
p.Met1169Thr
g.51941131A>G
rs1555285311
exon16
N-domain
Missense
/
Probably damaging (0.999)
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.3502G>T
p.Ala1168Ser
g.51941135C>A
rs777879359
exon16
N-domain
Missense
/
Possibly damaging(0.759)
Likely pathogenic
c.3498T>C
p.Ser1166Ser
g.51941139A>G
rs587783314
exon16
N-domain
Silent
n.a
n.a
Likely benign
c.3490G>A
p.Asp1164Asn
g.51941147C>T
rs867107727
exon16
N-domain
Missense
/
Possibly damaging(0.624)
Likely pathogenic
c.3476T>G
p.Leu1159*
g.51941161A>C
n.a
exon16
N-domain
Nonsense
n.a
n.a
Pathogenic
c.3473G>T
p.Gly1158Val
g.51941164C>A
rs770428835
exon16
N-domain
Missense
/
Probably damaging (0.999)
Likely pathogenic
c.3472_3482del
p.Gly1158Phe*2
g.51941155_51941165del
rs1566461818
exon16
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3467G>A
p.Arg1156His
g.51941170C>T
rs773917820
exon16
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3461T>C
p.Leu1154Pro
g.51941176A>G
n.a
exon16
N-domain
Missense
/
Possibly damaging(0.949)
Likely pathogenic
L365167883 (Embase)
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>A
p.Trp1153*
g.51941178C>T
rs1330620114
exon16
N-domain
Nonsense
n.a
n.a
Pathogenic
L2004138265 (Embase)
c.3459G>T
p.Trp1153Cys
g.51941178C>A
rs1330620114
exon16
N-domain
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
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
