c.2497dupG
p.Val833Glyfs*21
g.51950350dup
n.a
exon10
A-domain
Frameshift
n.a
n.a
Pathogenic
c.2495A>G
p.Lys832Arg
g.51950352T>C
rs1061472
exon10
A-domain
Missense
/
Benign(0.329)
Benign
c.2494A>C
p.Lys832Gln
g.51950353T>G
n.a
exon10
A-domain
Missense
/
/
Uncertain significance
c.2489T>C
p.Ile830Thr
g.51950358A>G
rs1593697228
exon10
A-domain
Missense
/
Possibly damaging(0.675)
Likely pathogenic
c.2485G>C
p.Asp829His
g.51950362C>G
rs181388674
exon10
A-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2484C>T
p.Gly828Gly
g.51950363G>A
rs570594838
exon10
A-domain
Silent
n.a
n.a
Likely benign
c.2480G>A
p.Arg827Gln
g.51950367C>T
rs368589213
exon10
A-domain
Missense
/
Probably damaging (0.987)
Likely pathogenic
c.2480G>C
p.Arg827Pro
g.51950367C>G
rs368589213
exon10
A-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2480G>T
p.Arg827Leu
g.51950367C>A
rs368589213
exon10
A-domain
Missense
/
Probably damaging (0.997)
Likely pathogenic
c.2479C>T
p.Arg827Trp
g.51950368G>A
rs539585071
exon10
A-domain
Missense
/
Possibly damaging(0.939)
Likely pathogenic
c.2478G>A
p.Gln826Gln
g.51950369C>T
n.a
exon10
A-domain
Silent
n.a
n.a
Likely benign
c.2473G>T
p.Val825Leu
g.51950374C>A
rs1320688188
exon10
A-domain
Missense
/
Possibly damaging(0.678)
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.2464dupA
p.Met822Asnfs*32
g.51950383dup
n.a
exon10
A-domain
Frameshift
n.a
n.a
Pathogenic
c.2463dupC
p.Met822Hisfs*32
g.51950384dup
n.a
exon10
A-domain
Frameshift
n.a
n.a
Pathogenic
c.2463delC
p.Met822Trpfs*51
g.51950384del
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.2450delA
p.Glu817Glyfs*56
g.51950397del
n.a
exon10
A-domain
Frameshift
n.a
n.a
Pathogenic
c.2448G>T
p.Arg816Ser
g.51950399C>A
rs1957924589
exon10
A-domain
Missense
/
Benign(0.005)
Uncertain significance
c.2448-25G>A
n.a
g.51950424C>T
rs9526811
intron9
/
/
n.a
n.a
Benign
c.2448-25G>T
n.a
g.51950424C>A
rs9526811
intron9
/
/
n.a
n.a
Likely Benign
c.2448-5T>G
n.a
g.51950404A>C
n.a
intron9
A-domain
Splicing
n.a
n.a
Uncertain significance
c.2448-2A>G
n.a
g.51950401T>C
n.a
intron9
A-domain
Splicing
n.a
n.a
Pathogenic
c.2448-1G>A
n.a
g.51950400C>T
n.a
intron9
A-domain
Splicing
n.a
n.a
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.2447+1G>T
n.a
g.51957515C>A
rs1958431105
intron9
A-domain
Splicing
n.a
n.a
Pathogenic
c.2447+2T>A
n.a
g.51957514A>T
rs1555290800
intron9
A-domain
Splicing
n.a
n.a
Pathogenic
c.2447+5G>A
n.a
g.51957511C>T
rs1369012080
intron9
A-domain
Splicing
n.a
n.a
Pathogenic
c.2447+5G>T
n.a
g.51957511C>A
rs1369012080
intron9
A-domain
Splicing
n.a
n.a
Likely pathogenic
c.2438T>G
p.Leu813*
g.51957525A>C
n.a
exon9
TM4/A-domain
Nonsense
n.a
n.a
Pathogenic
c.2438_2440delinsAT
p.Leu813Tyrfs*60
g.51957523_51957525del
rs1555290810
exon9
TM4/A-domain
Frameshift
n.a
n.a
Pathogenic
c.2435delA
p.Asn812fs*2
g.51957528del
n.a
exon9
TM4/A-domain
Frameshift
n.a
n.a
Pathogenic
c.2428G>T
p.Glu810*
g.51957535C>A
rs770020484
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.2420C>T
p.Thr807Ile
g.51957543G>A
rs1958433682
exon9
TM4/A-domain
Missense
/
Probably damaging (0.996)
Likely 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.2407G>A
p.Ala803Thr
g.51957556C>T
rs1409618843
exon9
TM4/A-domain
Missense
/
Probably damaging (1.000)
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.2391_2393delTCT
p.Leu798del
g.51957570_51957572del
rs772383075
exon9
TM4/A-domain
Inframe deletion
n.a
n.a
Likely pathogenic
c.2390C>T
p.Ser797Phe
g.51957573G>A
rs1555290883
exon9
TM4/A-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2384T>C
p.Leu795Pro
g.51957579A>G
n.a
exon9
TM4/A-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2384T>G
p.Leu795Arg
g.51957579A>C
n.a
exon9
TM4/A-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2383C>G
p.Leu795Val
g.51957580G>C
rs751710854
exon9
TM4/A-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
L2004138265 (Embase)
c.2383C>T
p.Leu795Phe
g.51957580G>A
rs751710854
exon9
TM4/A-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.2379T>C/A/G
p.Ala793Ala
g.51957584A>G/T/C
rs1343245429
exon9
TM4/A-domain
Silent
n.a
n.a
Likely benign
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.2366C>G
p.Ser789*
g.51957597G>C
rs1593722956
exon9
TM4/A-domain
Nonsense
n.a
n.a
Pathogenic
c.2364delC
p.Ser789Glnfs*18
g.51957599del
n.a
exon9
TM4/A-domain
Frameshift
n.a
n.a
Pathogenic
c.2363C>T
p.Thr788Ile
g.51957600G>A
rs541408630
exon9
TM4/A-domain
Missense
/
Probably damaging (0.966)
Pathogenic
