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
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.3518A>T
p.Glu1173Val
g.51941119T>C
n.a
exon16
N-domain
Missense
/
/
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.3502G>A
p.Ala1168Thr
g.51941135C>T
rs777879359
exon16
N-domain
Missense
/
/
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
