c.3798G>T
p.Gly1266Gly
g.51937581C>A
rs1048771325
exon18
P-domain
Silent
n.a
n.a
Likely benign
c.3797G>A
p.Gly1266Glu
g.51937582C>T
rs1566444586
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3796G>C
p.Gly1266Arg
g.51937583C>G
rs121907992
exon18
P-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Pathogenic
c.3794_3797dup
p.Asp1267Glyfs*6
g.51937582_51937585dup
n.a
exon18
P-domain
Frameshift
n.a
n.a
Pathogenic
c.3793G>T
p.Val1265Leu
g.51937586C>A
rs1957046996
exon18
P-domain
Missense
/
Probably damaging (0.999)
Likely pathogenic
c.3791T>C
p.Met1264Thr
g.51937588A>G
n.a
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3776G>T
p.Gly1259Val
g.51937603C>A
rs1248574088
exon18
P-domain
Missense
/
Probably damaging (0.998)
Likely pathogenic
c.3772_3775dupAAAG
p.Gly1259Glufs*14
g.51937604_51937607dup
n.a
exon18
P-domain
Frameshift
n.a
n.a
Pathogenic
c.3766_3767dup
p.Gln1256Hisfs*75
g.51937612_51937613dup
rs1957048711
exon18
P-domain
Frameshift
n.a
n.a
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.3741C>G
p.His1247Gln
g.51937638G>C
rs767464491
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.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.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.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.3700-3T>G
n.a
g.51937682A>C
n.a
intron17
P-domain
Splicing
n.a
n.a
Uncertain significance
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.3700delG
p.Val1234Leufs*96
g.51937679del
rs1957054299
exon18
P-domain
Frameshift
n.a
n.a
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.3699+2T>C
n.a
g.51939049A>G
rs1322206611
intron17
P-domain
Splicing
n.a
n.a
Pathogenic
c.3689T>C
p.Ile1230Thr
g.51939061A>G
n.a
exon17
P-domain
Missense
/
Probably damaging (0.988)
Pathogenic
c.3686C>G
p.Ala1229Gly
g.51939064G>C
rs1234490439
exon17
P-domain
Missense
Damaging (0.006)
Probably damaging (0.997)
Likely pathogenic
c.3682A>T
p.Arg1228*
g.51939068T>A
n.a
exon17
P-domain
Nonsense
n.a
n.a
Pathogenic
c.3680C>A
p.Ala1227Asp
g.51939070G>T
rs1566451314
exon17
P-domain
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.3679G>C
p.Ala1227Pro
g.51939071C>G
rs1957152812
exon17
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3677C>T
p.Thr1226Ile
g.51939073G>A
n.a
exon17
P-domain
Missense
/
Probably damaging(0.999)
Likely pathogenic
c.3662_3664delGGG
p.Gly1221del
g.51939086_51939088del
rs886042519
exon17
P-domain
Inframe deletion
n.a
n.a
Likely pathogenic
c.3659C>G
p.Thr1220Arg
g.51939091G>C
rs193922107
exon17
P-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.3659C>T
p.Thr1220Met
g.51939091G>A
rs193922107
exon17
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3653T>C
p.Leu1218Pro
g.51939097A>G
n.a
exon17
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3646G>A
p.Val1216Met
g.51939104C>T
rs776280797
exon17
P-domain
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.3630G﹥A
p.Gln1210Gln
g.51939120C>T
n.a
exon17
P-domain
Silent
n.a
n.a
Likely benign
c.3626T>A
p.Leu1209Gln
g.51939124A>T
n.a
exon17
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3605C>A
p.Ala1202Asp
g.51939145G>T
rs778719442
exon17
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3605C>G
p.Ala1202Gly
g.51939145G>C
rs778719442
exon17
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3587A>G
p.Asp1196Gly
g.51939163T>C
n.a
exon17
P-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.3584C>T
p.Ala1195Val
g.51939166G>A
n.a
exon17
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3577G>C
p.Ala1193Pro
g.51939173C>G
rs769531525
exon17
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3563T>G
p.Leu1188Arg
g.51939187A>C
rs1361580175
exon17
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3562C>T
p.Leu1188Phe
g.51939188G>A
rs1432190775
exon17
N-domain
Missense
Damaging (0.002)
Probably damaging (1.000)
Likely pathogenic
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
