c.-1039443_*350078del
5'UTR_3'UTR del
g.51584678_53050780del
n.a
exon1_21
/
Large fragment deletion
n.a
n.a
Pathogenic
c.4333G>C
p.Ala1445Pro
g.51934821C>G
n.a
exon21
after TM8
Missense
/
Benign (0.081)
Likely pathogenic
c.4272T>G
p.Tyr1424*
g.51934882A>C
rs780613139
exon21
after TM8
Nonsense
n.a
n.a
Pathogenic
c.4251A>G
p.Thr1417Thr
g.51934903T>C
rs546721020
exon21
after TM8
Silent
n.a
n.a
Likely benign
c.4194C>T
p.Ser1398Ser
g.51934960G>A
n.a
exon21
after TM8
Silent
n.a
n.a
Likely benign
c.4183dup
p.Leu1395Profs*14
g.51934971dup
n.a
exon21
after TM8
Frameshift
n.a
n.a
Pathogenic
c.4176dup
p.Lys1393Glufs*16
g.51934978dup
n.a
exon21
after TM8
Frameshift
n.a
n.a
Pathogenic
c.4175T>A
p.Met1392Lys
g.51934979A>T
rs199821965
exon21
after TM8
Missense
/
Benign (0.001)
Likely pathogenic
c.4162delG
p.Ala1388Argfs*5
g.51934992del
n.a
exon21
after TM8
Frameshift
n.a
n.a
Pathogenic
c.4153dupG
p.Glu1385Glyfs*24
g.51935001dup
n.a
exon21
after TM8
Frameshift
n.a
n.a
Pathogenic
c.4144G>T
p.Glu1382*
g.51935010C>A
n.a
exon21
after TM8
Nonsense
n.a
n.a
Pathogenic
c.4138G>C
p.Asp1380His
g.51935016C>G
rs768984875
exon21
after TM8
Missense
Damaging (0.028)
Possibly damaging (0.724)
Likely pathogenic
c.4128T>G
p.Tyr1376*
g.51935026A>C
n.a
exon21
TM8
Nonsense
n.a
n.a
Pathogenic
c.4125-1G>C
n.a
g.51935030C>G
rs1293549383
intron20
TM8
Splicing
n.a
n.a
Pathogenic
c.4125-1G>T
n.a
g.51935030C>A
rs1293549383
intron20
TM8
Splicing
n.a
n.a
Pathogenic
c.4124+2T>G
n.a.
g.51935591A>C
n.a
intron20
TM8
Splicing
n.a
n.a
Pathogenic
c.4124+4A>G
n.a.
g.51935589T>C
n.a
intron20
TM8
Splicing
n.a
n.a
Uncertain significance
c.4124+5G>A
n.a
g.51935588C>T
rs1321980462
intron20
TM8
Splicing
n.a
n.a
Likely pathogenic
c.4120A>T
p.Lys1374*
g.51935597T>A
n.a
exon20
TM8
Nonsense
n.a
n.a
Pathogenic
c.4117C>T
p.Leu1373Phe
g.51935600G>A
rs1268766352
exon20
TM8
Missense
/
Probably damaging(1.000)
Likely pathogenic
c.4114C>T
p.Gln1372*
g.51935603G>A
rs755584106
exon20
TM8
Nonsense
n.a
n.a
Pathogenic
c.4112T>C
p.Leu1371Pro
g.51935605A>G
rs1444841250
exon20
TM8
Missense
Damaging (0.011)
Probably damaging (1.000)
Likely pathogenic
c.4109C>T
p.Ser1370Phe
g.51935608G>A
n.a
exon20
TM8
Missense
Damaging (0.013)
Probably damaging (1.000)
Likely pathogenic
c.4094_4097delCTGT
p.Ser1365Trpfs*27
g.51935620_51935623del
rs1566434279
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.4075A>G
p.Met1359Val
g.51935642T>C
rs1956914257
exon20
TM8
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.4072G>A
p.Ala1358Thr
g.51935645C>T
rs1269584083
exon20
TM8
Missense
Damaging (0.001)
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.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.4059G>A
p.Trp1353*
g.51935658C>T
n.a
exon20
TM8
Nonsense
n.a
n.a
Pathogenic
c.4057T>C
p.Trp1353Arg
g.51935660A>G
rs1160679283
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.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.4021+50G>C
n.a
g.51937226C>G
rs9535795
intron19
/
/
n.a
n.a
Benign
c.4014T>A
p.Ile1338Ile
g.51937283A>T
rs762097856
exon19
TM7
Silent/Splicing
n.a
n.a
Likely pathogenic
c.4009C>G
p.Pro1337Ala
g.51937288G>C
n.a
exon19
TM7
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.4006delA
p.Ile1336Tyrfs*57
g.51937291del
rs1555283564
exon19
TM7
Frameshift
n.a
n.a
Pathogenic
c.4005delG
p.Ile1336Tyrfs*57
g.51937292del
n.a
exon19
TM7
Frameshift
n.a
n.a
Pathogenic
c.4005_4006insTTATAATGGGTTGCG
p.1335_1336insL*WVA
g.51937291_51937292insCGCAACCCATTATAA
n.a
exon19
TM7
Inframe insertion
n.a
n.a
Pathogenic
c.4003G>C
p.Gly1335Arg
g.51937294C>G
n.a
exon19
TM7
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.4001T>A
p.Val1334Asp
g.51937296A>T
n.a
exon19
TM7
Missense
/
Probably damaging(0.987)
Likely pathogenic
c.3999G>T
p.Leu1333Leu
g.51937298C>A
rs186435141
exon19
TM7
Silent
n.a
n.a
Likely benign
c.3993T>G
p.Tyr1331*
g.51937304A>C
n.a
exon19
TM7
Nonsense
n.a
n.a
Pathogenic
c.3983C>T
p.Ala1328Val
g.51937314G>A
rs1593644515
exon19
TM7
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.3982G>A
p.Ala1328Thr
g.51937315C>T
rs1333619338
exon19
TM7
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.3980T>C
p.Leu1327Pro
g.51937317A>G
n.a
exon19
TM7
Missense
/
Probably damaging(0.997)
Likely pathogenic
c.3973C>T
p.Leu1325Leu
g.51937324G>A
rs182060222
exon19
TM7
Silent
n.a
n.a
Likely benign
