c.-1039443_*350078del
5'UTR_3'UTR del
g.51584678_53050780del
n.a
exon1_21
/
Large fragment deletion
n.a
n.a
Pathogenic
c.4396T>C
p.*1466Argext*1
g.51934758A>G
rs1956854198
exon21
after TM8
Extension
n.a
n.a
Likely pathogenic
c.4378G>T
p.Asp1460Tyr
g.51934776G>T
n.a
exon21
after TM8
Missense
/
Probably damaging(0.999)
Likely pathogenic
c.4374_4375delCA
p.Arg1459Glyfs*2
g.51934779_51934780del
n.a
exon21
after TM8
Frameshift
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.4314A>G
p.Pro1438Pro
g.51934840T>C
rs939136907
exon21
after TM8
Silent
n.a
n.a
Likely benign
c.4311G>A
p.Lys1437Lys
g.51934843C>T
rs73202048
exon21
after TM8
Silent
n.a
n.a
Benign
c.4310dupA
p.Pro1438Alafs*11
g.51934844dup
n.a
exon21
after TM8
Frameshift
n.a
n.a
Pathogenic
c.4301C>T
p.Thr1434Met
g.51934853G>A
rs60986317
exon21
after TM8
Missense
/
Possibly damaging (0.888)
Likely pathogenic
c.4295C>T
p.Ser1432Phe
g.51934859G>A
rs375692175
exon21
after TM8
Missense
/
Probably damaging(0.999)
Likely pathogenic
c.4277G>T
p.Ser1426Ile
g.51934877C>A
rs549611809
exon21
after TM8
Missense
/
Probably damaging(1.000)
Likely pathogenic
c.4272T>G
p.Tyr1424*
g.51934882A>C
rs780613139
exon21
after TM8
Nonsense
n.a
n.a
Pathogenic
c.4268G>A
p.Ser1423Asn
g.51934886C>T
rs755388647
exon21
after TM8
Missense
/
Probably damaging(0.997)
Pathogenic
c.4251A>G
p.Thr1417Thr
g.51934903T>C
rs546721020
exon21
after TM8
Silent
n.a
n.a
Likely benign
c.4245_4246dupGG
p.Ala1386Glyfs*6
g.51934908_51934909dup
n.a
exon21
after TM8
Frameshift
n.a
n.a
Pathogenic
L2004138265 (Embase)
c.4230G>A
p.Trp1410*
g.51934924C>T
n.a
exon21
after TM8
Nonsense
n.a
n.a
Pathogenic
c.4221T>A
p.Asp1407Glu
g.51934933A>T
rs587783320
exon21
after TM8
Missense
/
Possibly damaging(0.533)
Likely benign
c.4213G>A
p.Gly1405Ser
g.51934941C>T
rs189601972
exon21
after TM8
Missense
/
Probably damaging(1.000)
Likely pathogenic
c.4196A>G
p.Gln1399Arg
g.51934958T>C
n.a
exon21
after TM8
Missense
/
Possibly damaging(0.945)
Likely pathogenic
c.4195delC
p.Gln1399Argfs*6
g.51934959del
rs886041336
exon21
after TM8
Frameshift
n.a
n.a
Pathogenic
c.4194C>T
p.Ser1398Ser
g.51934960G>A
n.a
exon21
after TM8
Silent
n.a
n.a
Likely benign
c.4187C>T
p.Thr1396Met
g.51934967G>A
rs528603867
exon21
after TM8
Missense
/
Probably damaging(0.991)
Likely pathogenic
c.4183dupC
p.Leu1395Profs*14
g.51934971dup
n.a
exon21
after TM8
Frameshift
n.a
n.a
Pathogenic
c.4176dupG
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.4135C>T
p.Pro1379Ser
g.51935019G>A
rs181250704
exon21
after TM8
Missense
/
Probably damaging(0.999)
Likely pathogenic
c.4128T>G
p.Tyr1376*
g.51935026A>C
n.a
exon21
TM8
Nonsense
n.a
n.a
Pathogenic
c.4125-2A>G
n.a
g.51935031T>C
rs1555282347
intron20
TM8
Splicing
n.a
n.a
Pathogenic
c.4125-1G>A
n.a
g.51935030C>T
rs1293549383
intron20
TM8
Splicing
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.4124G>C
p.Cys1375Ser
g.51935593C>G
rs1365425480
exon20
TM8
Missense
/
Possibly damaging(0.570)
Likely 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.4124+6T>C
n.a
g.51935587A>G
n.a
intron20
TM8
Splicing
n.a
n.a
Uncertain significance
c.4120A>T
p.Lys1374*
g.51935597T>A
n.a
exon20
TM8
Nonsense
n.a
n.a
Pathogenic
c.4118T>C
p.Leu1373Pro
g.51935599A>G
rs780811477
exon20
TM8
Missense
/
Probably damaging(1.000)
Likely pathogenic
c.4118T>G
p.Leu1373Arg
g.51935599A>C
rs780811477
exon20
TM8
Missense
/
Probably damaging(1.000)
Likely pathogenic
c.4117C>T
p.Leu1373Phe
g.51935600G>A
rs1268766352
exon20
TM8
Missense
/
Probably damaging(1.000)
Likely pathogenic
c.4116G>A
p.Gln1372Gln
g.51935601C>T
rs745363573
exon20
TM8
Silent
n.a
n.a
Likely benign
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.4110C>T
p.Ser1370Ser
g.51935607G>A
rs779979628
exon20
TM8
Silent
n.a
n.a
Likely benign
c.4109C>T
p.Ser1370Phe
g.51935608G>A
n.a
exon20
TM8
Missense
Damaging (0.013)
Probably damaging (1.000)
Likely pathogenic
c.4106C>T
p.Ser1369Leu
g.51935611G>A
rs1555282678
exon20
TM8
Missense
/
Probably damaging(1.000)
Likely pathogenic
