c.4103T>C
p.Leu1368Pro
g.51935614A>G
rs749171049
exon20
TM8
Missense
/
Probably damaging(1.000)
Likely pathogenic
c.4101_4102insAGTC
p.Leu1368Serfs*11
g.51935615_51935616insGACT
n.a
exon20
TM8
Frameshift
n.a
n.a
Pathogenic
c.4097_4098delTG
p.Val1366Glyfs*11
g.51935619_51935620del
n.a
exon20
TM8
Frameshift
n.a
n.a
Pathogenic
c.4094_4097delCTGT
p.Ser1365Trpfs*27
g.51935620_51935623del
rs1566434279
exon20
TM8
Frameshift
n.a
n.a
Pathogenic
c.4093dupT
p.Ser1365Phefs*13
g.51935624dup
n.a
exon20
TM8
Frameshift
n.a
n.a
Pathogenic
c.4092_4093delGT
p.Ser1365Cysfs*12
g.51935624_51935625del
rs771603301
exon20
TM8
Frameshift
n.a
n.a
Pathogenic
c.4088C>T
p.Ser1363Phe
g.51935629G>A
rs776848753
exon20
TM8
Missense
/
Probably damaging(1.000)
Likely pathogenic
c.4087T>G
p.Ser1363Ala
g.51935630A>C
rs1213972073
exon20
TM8
Missense
/
Probably damaging(1.000)
Likely pathogenic
c.4085_4086delCC
p.Ser1362Phefs*15
g.51935631_51935632del
n.a
exon20
TM8
Frameshift
n.a
n.a
Pathogenic
c.4084T>G
p.Ser1362Ala
g.51935633A>C
n.a
exon20
TM8
Missense
/
Probably damaging(1.000)
Likely pathogenic
c.4077G>C
p.Met1359Ile
g.51935640C>G
rs759551693
exon20
TM8
Missense
/
Probably damaging(1.000)
Likely pathogenic
c.4076T>C
p.Met1359Thr
g.51935641A>G
n.a
exon20
TM8
Missense
/
Probably damaging(1.000)
Likely pathogenic
c.4075A>G
p.Met1359Val
g.51935642T>C
rs1956914257
exon20
TM8
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
L359769031 (Embase)
c.4072G>A
p.Ala1358Thr
g.51935645C>T
rs1269584083
exon20
TM8
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.4072G>T
p.Ala1358Ser
g.51935645C>A
rs1269584083
exon20
TM8
Missense
/
Probably damaging(1.000)
Likely pathogenic
c.4070C>T
p.Ala1357Val
g.51935647G>A
rs769949264
exon20
TM8
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.4069dupG
p.Ala1357Glyfs*21
g.51935648dup
n.a
exon20
TM8
Frameshift
n.a
n.a
Pathogenic
c.4069G>A
p.Ala1357Thr
g.51935648C>T
rs776172431
exon20
TM8
Missense
Damaging (0.004)
Probably damaging (1.000)
Likely pathogenic
c.4068_4069insG
p.Ala1357Glyfs*21
g.51935019_51935020insG
rs749472361
Exon 20
A-domain/TM5
Inframe deletion
Damaging (0.001)
Probably damaging (1.000)
Likely Pathogenic
L365167883 (Embase)
c.4064G>A
p.Gly1355Asp
g.51935653C>T
rs1305262063
exon20
TM8
Missense
/
Probably damaging (1.000)
Pathogenic
c.4063G>A
p.Gly1355Ser
g.51935654C>T
rs1555282751
exon20
TM8
Missense
Tolerated (0.100)
Probably damaging (1.000)
Likely pathogenic
c.4063G>T
p.Gly1355Cys
g.51935654C>A
rs1555282751
exon20
TM8
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.4059G>A
p.Trp1353*
g.51935658C>T
n.a
exon20
TM8
Nonsense
n.a
n.a
Pathogenic
c.4058G>A
p.Trp1353*
g.51935659C>T
rs193922110
exon20
TM8
Nonsense
n.a
n.a
Pathogenic
c.4058G>C
p.Trp1353Ser
g.51935659C>G
rs193922110
exon20
TM8
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.4057T>C
p.Trp1353Arg
g.51935660A>G
rs1160679283
exon20
TM8
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.4055C>G
p.Pro1352Arg
g.51935662G>C
rs113468879
exon20
TM8
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.4054C>T
p.Pro1352Ser
g.51935663G>A
rs1388795855
exon20
TM8
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.4052_4070dup
p.Met1359Leufs*25
g.51935647_51935665dup
n.a
exon20
TM8
Frameshift
n.a
n.a
Pathogenic
c.4051C>T
p.Gln1351*
g.51935666G>A
rs786204578
exon20
TM8
Nonsense
n.a
n.a
Pathogenic
c.4049T>C
p.Leu1350Pro
g.51935668A>G
rs764603742
exon20
TM8
Missense
/
Probably damaging (1.000)
Likely pathogenic
L2015092230 (Embase)
c.4044_4054delinsGGATGGGCCCATCT
p.1348_1352delinsMDGPIS
g.51935663_51935673delinsAGATGGGCCCATCC
n.a
exon20
TM8
Inframe deletion/insertion
n.a
n.a
Likely pathogenic
c.4043T>A
p.Ile1348Asn
g.51935674A>T
n.a
exon20
TM7/TM8
Missense
/
Possibly damaging(0.897)
Pathogenic
c.4039G>A
p.Gly1347Ser
g.51935678C>T
rs587783318
exon20
TM7/TM8
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.4027_4029dupTTC
p.Phe1343dup
g.51935688_51935690dup
n.a
exon20
TM7/TM8
Inframe insertion
n.a
n.a
Likely pathogenic
c.4022G>A
p.Gly1341Asp
g.51935695C>T
rs779494870
exon20
TM7/TM8
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.4022G>T
p.Gly1341Val
g.51935695C>A
rs779494870
exon20
TM7/TM8
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.4022_4023delinsAA/AG
p.Gly1341Glu
g.51935694_51935695delinsTT/CT
n.a
exon20
TM7/TM8
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.4022-?_4398+?del
Exon 20_exon 21del
/
n.a
exon20_21
/
Large fragment deletion
n.a
n.a
Pathogenic
c.4022-2A>G
n.a
g.51935697T>C
rs1555282816
intron19
TM7/TM8
Splicing
n.a
n.a
Pathogenic
c.4022-1G>C
n.a
g.51935696C>G
n.a
intron19
TM7/TM8
Splicing
n.a
n.a
Pathogenic
c.4021G>A
p.Gly1341Ser
g.51937276C>T
rs587783317
exon19
TM7/TM8
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.4021G>C
p.Gly1341Arg
g.51937276C>G
rs587783317
exon19
TM7/TM8
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.4021+87_4125-2del
Intron 19_intron 20 del
g.51935031_51937189del
n.a
exon20
TM8
Large fragment deletion
n.a
n.a
Pathogenic
c.4021+1G>T
n.a
g.51937275C>A
n.a
intron19
TM7/TM8
Splicing
n.a
n.a
Pathogenic
c.4021+3A>G
n.a
g.51937273T>C
rs565970531
intron19
TM7/TM8
Splicing
n.a
n.a
Uncertain significance
c.4021+21G>C
n.a
g.51937255C>G
n.a
intron19
/
/
n.a
n.a
Likely benign
c.4021+50G>C
n.a
g.51937226C>G
rs9535795
intron19
/
/
n.a
n.a
Benign
c.4016C>T
p.Ala1339Val
g.51937281G>A
n.a
exon19
TM7
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.4015G>C
p.Ala1339Pro
g.51937282C>G
n.a
exon19
TM7
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
