c.3664G>A
p.Asp1222Asn
g.51939086C>T
n.a
exon17
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3664G>T
p.Asp1222Tyr
g.51939086C>A
n.a
exon17
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3663_3664delGG
p.Gly1221Glyfs*35
g.51939086_51939087del
n.a
exon17
P-domain
Frameshift
n.a
n.a
Pathogenic
L2004138265 (Embase)
c.3662G>A
p.Gly1221Glu
g.51939088C>T
rs1486594906
exon17
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3662G>T
p.Gly1221Val
g.51939088C>A
rs1486594906
exon17
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
L619675390 (Embase)
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.3655A>T
p.Ile1219Phe
g.51939095T>A
n.a
exon17
P-domain
Missense
/
Probably damaging(0.996)
Likely pathogenic
c.3653T>C
p.Leu1218Pro
g.51939097A>G
n.a
exon17
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3649_3654delGTTCTG
p.1217_1218delVL
g.51939096_51939101del
rs781266802
exon17
P-domain
Inframe deletion
n.a
n.a
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.3645C>T
p.Asp1215Asp
g.51939105G>A
rs763228636
exon17
P-domain
Silent
n.a
n.a
Likely benign
c.3644A>G
p.Asp1215Gly
g.51939106T>C
rs1555284575
exon17
P-domain
Missense
/
Probably damaging(0.994)
Likely pathogenic
c.3643G>T
p.Asp1215Tyr
g.51939107C>A
n.a
exon17
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3638G>A
p.Gly1213Asp
g.51939112C>T
rs1555284582
exon17
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3638G>T
p.Gly1213Val
g.51939112C>A
rs1555284582
exon17
P-domain
Missense
/
Probably damaging (1.000)
Pathogenic
c.3630G>A
p.Gln1210Gln
g.51939120C>T
n.a
exon17
P-domain
Silent
n.a
n.a
Likely benign
c.3627_3630delGCAG
p.Gln1210Alafs*8
g.51939120_51939123del
n.a
exon17
P-domain
Frameshift
n.a
n.a
Pathogenic
c.3627_3632delGCAGAG
p.1210_1211delQS
g.51939118_51939123del
n.a
exon17
P-domain
Inframe deletion
n.a
n.a
Likely pathogenic
c.3620A>G
p.His1207Arg
g.51939130T>C
rs7334118
exon17
P-domain
Missense
/
Benign(0.044)
Benign
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.3601G>A
p.Glu1201Lys
g.51939149G>T
n.a
exon17
P-domain
Missense
/
Probably damaging(0.993)
Likely pathogenic
c.3599A>C
p.Gln1200Pro
g.51939151T>G
rs747764483
exon17
P-domain
Missense
/
Benign(0.000)
Likely pathogenic
L30234991 (Embase)
c.3598C>T
p.Gln1200*
g.51939152G>A
rs786204658
exon17
P-domain
Nonsense
n.a
n.a
Likely Pathogenic
c.3588dupC
p.Ala1197Argfs*62
g.51939162dup
rs1957160342
exon17
P-domain
Frameshift
n.a
n.a
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.3577delG
p.Ala1193Glnfs*26
g.51939173del
n.a
exon17
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3577G>C
p.Ala1193Pro
g.51939173C>G
rs769531525
exon17
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3575T>A
p.Ile1192Asn
g.51939175A>T
n.a
exon17
N-domain
Missense
/
Probably damaging (0.967)
Likely pathogenic
c.3569G>A
p.Gly1190Glu
g.51939181C>T
rs767681386
exon17
N-domain
Missense
/
Probably damaging (0.986)
Likely pathogenic
c.3567delT
p.Cys1189Trpfs*3
g.51939183del
n.a
exon17
N-domain
Frameshift
n.a
n.a
Pathogenic
L619675390 (Embase)
c.3567_3568delGT
p.Cys1189Trpfs*69
g.51939182_51939183del
n.a
exon17
N-domain
Frameshift
n.a
n.a
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.3557G>A
p.Gly1186Asp
g.51939193C>T
rs766800003
exon17
N-domain
Missense
/
Benign(0.307)
Likely pathogenic
c.3557-141C>T
n.a
g.51939334G>A
rs1957176440
intron16
/
/
n.a
n.a
Benign
c.3557-6C>T
n.a
g.51939199G>A
rs140708492
intron16
N-domain
Splicing
n.a
n.a
Uncertain significance
c.3557-2A>G
n.a
g.51939195T>C
rs1593652717
intron16
N-domain
Splicing
n.a
n.a
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.3556G>T
p.Gly1186Cys
g.51941081C>A
rs786204547
exon16
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3556+281_4001del
Intron 16_exon 19 del
g.51937296_51940800del
n.a
exon16_19
TM7
Large fragment deletion
n.a
n.a
Pathogenic
c.3556+1G>A
n.a
g.51941080C>T
rs184388696
intron16
N-domain
Splicing
n.a
n.a
Pathogenic
c.3556+1G>T
n.a
g.51941080C>A
rs184388696
intron16
N-domain
Splicing
n.a
n.a
Pathogenic
c.3556+2T>C
n.a
g.51941079A>G
n.a
intron16
N-domain
Splicing
n.a
n.a
Pathogenic
c.3553G>A
p.Asp1185Asn
g.51941084C>T
n.a
exon16
N-domain
Missense
/
Probably damaging (0.995)
Likely pathogenic
c.3552dupT
p.Asp1185*
g.51941085dup
rs748924063
exon16
N-domain
Frameshift
n.a
n.a
Pathogenic