c.2539G>A
p.Glu847Lys
g.51950308C>T
rs1957917294
exon10
A-domain
Missense
Tolerated (0.053)
Probably damaging (0.995)
Likely pathogenic
c.2525A>G
p.Asp842Gly
g.51950322T>C
n.a
exon10
A-domain
Missense
/
Probably damaging (0.999)
Likely pathogenic
c.2524G>A
p.Asp842Asn
g.51950323C>T
n.a
exon10
A-domain
Silent
n.a
n.a
Likely benign
c.2519C>T
p.Pro840Leu
g.51950328G>A
rs768671894
exon10
A-domain
Missense
/
Probably damaging (1.000)
Pathogenic
c.2513A>C
p.Lys838Thr
g.51950334T>G
rs774488683
exon10
A-domain
Missense
Damaging (0.001)
Probably damaging (0.913)
Likely pathogenic
c.2513delA
p.Lys838Serfs*35
g.51950334del
rs777362050
exon10
A-domain
Frameshift
n.a
n.a
Pathogenic
c.2510delG
p.Gly837Glufs*36
g.51950337del
n.a
exon10
A-domain
Frameshift
n.a
n.a
Pathogenic
c.2509G>T
p.Gly837*
g.51950338C>A
rs183519418
exon10
A-domain
Nonsense
n.a
n.a
Pathogenic
c.2506G>A
p.Gly836Arg
g.51950341C>T
n.a
exon10
A-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2502C>G
p.Val834Val
g.51950345G>C
rs188903683
exon10
A-domain
Silent
n.a
n.a
Likely benign
c.2495A>G
p.Lys832Arg
g.51950352T>C
rs1061472
exon10
A-domain
Missense
/
Benign(0.329)
Benign
c.2480G>A
p.Arg827Gln
g.51950367C>T
rs368589213
exon10
A-domain
Missense
/
Probably damaging (0.987)
Likely pathogenic
c.2471T>G
p.Leu824Arg
g.51950376A>C
n.a
exon10
A-domain
Missense
Damaging (0.000)
Probably damaging (0.993)
Likely pathogenic
c.2464dup
p.Met822Asnfs*32
g.51950383dup
n.a
exon10
A-domain
Frameshift
n.a
n.a
Pathogenic
c.2455C>T
p.Gln819*
g.51950392G>A
rs1160902246
exon10
A-domain
Nonsense
n.a
n.a
Pathogenic
c.2448-25G>A
n.a
g.51950424C>T
rs9526811
intron9
/
/
n.a
n.a
Benign
c.2448-5T>G
n.a
g.51950404A>C
n.a
intron9
A-domain
Splicing
n.a
n.a
Uncertain significance
c.2447+5G>T
n.a
g.51957511C>A
rs1369012080
intron9
A-domain
Splicing
n.a
n.a
Likely pathogenic
c.2447+1612_2730+31delinsATGGAAGGGAGG
Intron 9_intron 11 del/ins
g.51949976_51955904delinsCCTCCCTTCCAT
n.a
exon10_11
A-domain/TM5
Large fragment deletion
n.a
n.a
Pathogenic
c.2438T>G
p.Leu813*
g.51957525A>C
n.a
exon9
TM4/A-domain
Nonsense
n.a
n.a
Pathogenic
c.2424_2425insA
p.Gly809Argfs*2
g.51957538_51957539insT
n.a
exon9
TM4/A-domain
Frameshift
n.a
n.a
Pathogenic
c.2419A>C
p.Thr807Pro
g.51957544T>G
n.a
exon9
TM4/A-domain
Missense
Damaging (0.005)
Probably damaging (0.996)
Likely pathogenic
c.2395C>G
p.Gln799Glu
g.51957568G>C
rs78253195
exon9
TM4/A-domain
Missense
Damaging (0.003)
Probably damaging (1.000)
Likely pathogenic
c.2390C>T
p.Ser797Phe
g.51957573G>A
rs1555290883
exon9
TM4/A-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2383C>T
p.Leu795Phe
g.51957580G>A
rs751710854
exon9
TM4/A-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.2375delT
p.Leu792Argfs*15
g.51957588del
n.a
exon9
TM4/A-domain
Frameshift
n.a
n.a
Pathogenic
c.2375T>C
p.Leu792Pro
g.51957588A>G
rs1593722897
exon9
TM4/A-domain
Missense
Damaging (0.000)
Probably damaging (0.997)
Likely pathogenic
c.2356-2A>G
n.a
g.51957609T>C
n.a
intron8
TM4/A-domain
Splicing
n.a
n.a
Pathogenic
c.2356-1G>C
n.a
g.51957608C>G
rs1555290925
intron8
TM4/A-domain
Splicing
n.a
n.a
Pathogenic
c.2355+26A>G
n.a
g.51958285T>C
rs191148639
intron8
/
/
n.a
n.a
Uncertain significance
c.2355+27G>A
n.a
g.51958284C>T
rs182526085
intron8
/
/
n.a
n.a
Uncertain significance
c.2341G>A
p.Glu781Lys
g.51958325C>T
rs1225673619
exon8
TM4
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2337G>A
p.Trp779*
g.51958329C>T
rs137853282
exon8
TM4
Nonsense
n.a
n.a
Pathogenic
c.2336G>A
p.Trp779*
g.51958330C>T
rs137853283
exon8
TM4
Nonsense
n.a
n.a
Pathogenic
c.2333G>A
p.Arg778Gln
g.51958333C>T
rs28942074
exon8
TM4
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.2333G>T
p.Arg778Leu
g.51958333C>A
rs28942074
exon8
TM4
Missense
Damaging (0.000)
Probably damaging (1.000)
Pathogenic
c.2332C>G
p.Arg778Gly
g.51958334G>C
rs137853284
exon8
TM4
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2332C>T
p.Arg778Trp
g.51958334G>A
rs137853284
exon8
TM4
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.2328G>A
p.Leu776Leu
g.51958338C>T
rs756580388
exon8
TM4
Silent
n.a
n.a
Likely benign
c.2327T>C
p.Leu776Pro
g.51958339A>G
n.a
exon8
TM4
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.2320_2321insTTGCCCAGGGCA
p.Leu776Glnfs*695
g.51958345_51958346insTGCCCTGGGCAA
n.a
exon8
TM4
Frameshift
n.a
n.a
Pathogenic
c.2310C>G
p.Leu770Leu
g.51958356G>C
rs398123136
exon8
TM4
Silent
n.a
n.a
Likely benign
c.2308C>T
p.Leu770Phe
g.51958358G>A
n.a
exon8
TM4
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.2308_2316dup
p.770_772dup
g.51958349_51958350insCACAAAGAG
n.a
exon8
TM4
Inframe insertion
n.a
n.a
Likely pathogenic
c.2306T>C
p.Met769Thr
g.51958360A>G
rs772595172
exon8
TM4
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2305A>G
p.Met769Val
g.51958361T>C
rs193922103
exon8
TM4
Missense
Damaging (0.000)
Probably damaging (1.000)
Pathogenic
c.2304dupC
p.Met769Hisfs*26
g.51958362dup
rs137853287
exon8
TM4
Frameshift
n.a
n.a
Pathogenic
c.2304delC
p.Met769Cysfs*38
g.51958362del
rs137853287
exon8
TM4
Frameshift
n.a
n.a
Pathogenic
c.2297C>T
p.Thr766Met
g.51958369G>A
rs121907997
exon8
TM4
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.2294A>G
p.Asp765Gly
g.51958372T>C
rs1555291147
exon8
TM4
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
