c.3776G>T
p.Gly1259Val
g.51937603C>A
rs1248574088
exon18
P-domain
Missense
/
Probably damaging (0.998)
Likely pathogenic
c.3772A>T
p.Lys1258*
g.51937607T>A
rs1566444909
exon18
P-domain
Nonsense
n.a
n.a
Pathogenic
c.3772_3775dupAAAG
p.Gly1259Glufs*14
g.51937604_51937607dup
n.a
exon18
P-domain
Frameshift
n.a
n.a
Pathogenic
c.3770_3771insG
p.Asn1257Lysfs*2
g.51937608_51937609insC
n.a
exon18
P-domain
Frameshift
n.a
n.a
Pathogenic
c.3767A>G
p.Gln1256Arg
g.51937612T>C
rs1555283946
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3766_3767dupCA
p.Gln1256Hisfs*75
g.51937612_51937613dup
rs1957048711
exon18
P-domain
Frameshift
n.a
n.a
Pathogenic
c.3763C>A
p.Leu1255Ile
g.51937616G>T
rs1177144141
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3763C>T
p.Leu1255Phe
g.51937616G>A
rs1177144141
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3762G>C
p.Glu1254Asp
g.51937617C>G
n.a
exon18
P-domain
Missense
/
Probably damaging (0.975)
Likely pathogenic
c.3760G>C
p.Glu1254Gln
g.51937619C>G
rs867177979
exon18
P-domain
Missense
/
Benign(0.391)
Likely pathogenic
c.3744G>C
p.Lys1248Asn
g.51937635C>G
n.a
exon18
P-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.3742A>C
p.Lys1248Gln
g.51937637T>G
n.a
exon18
P-domain
Missense
/
Probably damaging (0.999)
Likely pathogenic
c.3742A>G
p.Lys1248Glu
g.51937637T>C
n.a
exon18
P-domain
Missense
/
/
Likely pathogenic
c.3741C>G
p.His1247Gln
g.51937638G>C
rs767464491
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3741_3742dupCA
p.Lys1248Thrfs*83
g.51937637_51937638dup
rs1462451206
exon18
P-domain
Frameshift
n.a
n.a
Pathogenic
c.3734C>T
p.Pro1245Leu
g.51937645G>A
n.a
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3733C>A
p.Pro1245Thr
g.51937646G>T
rs587783316
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3733C>G
p.Pro1245Ala
g.51937646G>C
rs587783316
exon18
P-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.3733C>T
p.Pro1245Ser
g.51937646G>A
rs587783316
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3731delT
p.Leu1244Argfs*86
g.51937648del
n.a
exon18
P-domain
Frameshift
n.a
n.a
Pathogenic
c.3729G>C
p.Val1243Val
g.51937650C>G
rs1472791310
exon18
P-domain
Silent
n.a
n.a
Likely benign
c.3727G>C
p.Val1243Leu
g.51937652C>G
rs1277243795
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3724G>A
p.Glu1242Lys
g.51937655C>T
n.a
exon18
P-domain
Missense
Damaging (0.002)
Probably damaging (0.999)
Likely pathogenic
c.3723A>C
p.Ala1241Ala
g.51937656T>G
rs1343476063
exon18
P-domain
Silent
n.a
n.a
Likely benign
c.3722C>T
p.Ala1241Val
g.51937657G>A
rs1555283994
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3716T>G
p.Val1239Gly
g.51937663A>C
rs374628199
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3715G>T
p.Val1239Phe
g.51937664C>A
rs185912036
exon18
P-domain
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.3713_3714delAA
p. Lys1238Serfs*20
g.51937665_51937666del
rs1957053203
exon18
P-domain
Frameshift
n.a
n.a
Pathogenic
c.3712A>G
p.Lys1238Glu
g.51937667T>C
n.a
exon18
P-domain
Missense
/
Probably damaging(0.967)
Likely pathogenic
c.3708C>T
p.Ile1236Ile
g.51937671G>A
rs1191860285
exon18
P-domain
Silent
n.a
n.a
Likely benign
c.3707T>C
p.Ile1236Thr
g.51937672A>G
n.a
exon18
P-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.3704G>A
p.Gly1235Asp
g.51937675C>T
rs1957053765
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3703G>C
p.Gly1235Arg
g.51937676C>G
n.a
exon18
P-domain
Missense
/
/
Uncertain significance
c.3700delG
p.Val1234Leufs*96
g.51937679del
rs1957054299
exon18
P-domain
Frameshift
n.a
n.a
Pathogenic
c.3700G>T
p.Val1234Phe
g.51937679C>A
rs193922108
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3700-592_*409del
Exon18_3'UTR del
g.51934347_51938271del
n.a
exon18_21
/
Large fragment deletion
n.a
n.a
Pathogenic
c.3700-96A>G
n.a
g.51937775T>C
n.a
intron17
/
/
n.a
n.a
Uncertain significance
c.3700-21A>C
n.a
g.51937700T>G
rs561166926
intron17
/
/
n.a
n.a
Uncertain significance
c.3700-3T>G
n.a
g.51937682A>C
n.a
intron17
P-domain
Splicing
n.a
n.a
Uncertain significance
c.3700-2A>G
n.a
g.51937681T>C
n.a
intron17
P-domain
Splicing
n.a
n.a
Pathogenic
c.3700-2A>T
n.a
g.51937681T>A
n.a
intron17
P-domain
Splicing
n.a
n.a
Pathogenic
c.3700-1G>A
n.a
g.51937680C>T
rs1555284021
intron17
P-domain
Splicing
n.a
n.a
Pathogenic
c.3700-1G>C
n.a
g.51937680C>G
rs1555284021
intron17
P-domain
Splicing
n.a
n.a
Pathogenic
L71497209 (Embase)
c.3699G>A
p.Gln1233Gln
g.51939051C>T
n.a
exon17
P-domain
Silent/Splicing
n.a
n.a
Likely pathogenic
c.3699+1G>C
n.a
g.51939050C>G
n.a
intron17
P-domain
Splicing
n.a
n.a
Pathogenic
c.3699+2T>C
n.a
g.51939049A>G
rs1322206611
intron17
P-domain
Splicing
n.a
n.a
Pathogenic
c.3699+27T>C
n.a
g.51939024A>G
rs143213823
intron17
/
/
n.a
n.a
Uncertain significance
c.3698A>C
p.Gln1233Pro
g.51939052T>G
rs1309287089
exon17
P-domain
Missense
/
Probably damaging (0.999)
Likely pathogenic
c.3694A>C
p.Thr1232Pro
g.51939056T>G
rs568009639
exon17
P-domain
Missense
/
Possibly damaging(0.933)
Likely pathogenic
c.3692C>T
p.Ala1231Val
g.51939058G>A
rs1287521874
exon17
P-domain
Missense
/
/
Uncertain significance
