c.2591T>G
p.Val864Gly
g.51950146A>C
rs1555288669
exon11
A-domain
Missense
/
Probably damaging (0.998)
Likely pathogenic
c.2590G>A
p.Val864Ile
g.51950147C>T
n.a
exon11
A-domain
Missense
/
Probably damaging (0.999)
Likely pathogenic
c.2590_2593dupTCA
p.Thr865Serfs*3
g.51950144_51950147dup
n.a
exon11
A-domain
Frameshift
n.a
n.a
Pathogenic
c.2587C>T
p.Pro863Ser
g.51950150G>A
n.a
exon11
A-domain
Missense
/
Probably damaging (0.998)
Likely pathogenic
c.2583C>T
p.Ala861Ala
g.51950154G>A
rs565717791
exon11
A-domain
Silent
n.a
n.a
Likely benign
c.2583delC
p.Met862Cysfs*11
g.51950154del
n.a
exon11
A-domain
Frameshift
n.a
n.a
Pathogenic
c.2582_2583insG
p.Met862Hisfs*5
g.51950154_51950155insC
n.a
exon11
A-domain
Frameshift
n.a
n.a
Pathogenic
c.2581G>A
p.Ala861Thr
g.51950156C>T
n.a
exon11
A-domain
Missense
/
Possibly damaging (0.635)
Likely pathogenic
c.2580A>G
p.Glu860Glu
g.51950157T>C
rs1957906090
exon11
A-domain
Silent
n.a
n.a
Likely benign
c.2579A>G
p.Glu860Gly
g.51950158T>C
n.a
exon11
A-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2577A>T
p.Gly859Gly
g.51950160T>A
n.a
exon11
A-domain
Silent
n.a
n.a
Likely benign
c.2576G>A
p.Gly859Glu
g.51950161C>T
rs1957906357
exon11
A-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2576-30A>G
n.a
g.51950191T>C
rs2281814
intron10
/
n.a
n.a
n.a
Uncertain significance
c.2576-25A>G
n.a
g.51950186T>C
rs9526811
intron10
/
n.a
n.a
n.a
Uncertain significance
c.2576-6G>A
n.a
g.51950167C>T
rs755819821
intron10
A-domain
n.a
n.a
n.a
Uncertain significance
c.2576-12_2576-5delinsAGGTGTCATGTC
n.a
g.51950166_51950173delinsGACATGACACCT
n.a
intron10
A-domain
/
n.a
n.a
Uncertain significance
c.2575+1G>C
n.a
g.51950271C>G
rs766149114
intron10
A-domain
Splicing
n.a
n.a
Likely pathogenic
c.2575+2T>A
n.a
g.51950270A>T
rs1593696714
intron10
A-domain
Splicing
n.a
n.a
Pathogenic
c.2575+2T>C
n.a
g.51950270A>G
rs1593696714
intron10
A-domain
Splicing
n.a
n.a
Pathogenic
c.2572A>G
p.Thr858Ala
g.51950275T>C
n.a
exon10
A-domain
Missense
/
Possibly damaging (0.933)
Likely pathogenic
c.2570T>C
p.Ile857Thr
g.51950277A>G
rs1057520235
exon10
A-domain
Missense
/
Probably damaging (0.996)
Likely pathogenic
c.2570_2572del
p.Ile857del
g.51950275_51950277del
n.a
exon10
A-domain
In-frame deletion
n.a
n.a
Likely pathogenic
c.2567T>G
p.Leu856Arg
g.51950280A>C
rs1310198925
exon10
A-domain
Missense
/
Probably damaging (0.996)
Likely pathogenic
c.2564C>A
p.Ser855Tyr
g.51950283G>T
rs764783012
exon10
A-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2564C>T
p.Ser855Phe
g.51950283G>A
rs764783012
exon10
A-domain
Missense
/
Probably damaging (0.990)
Likely pathogenic
c.2561A>G
p.Glu854Gly
g.51950286T>C
rs1403129366
exon10
A-domain
Missense
/
Probably damaging (0.992)
Likely pathogenic
c.2561A>T
p.Glu854Val
g.51950286T>A
rs1403129366
exon10
A-domain
Missense
Damaging (0.000)
Probably damaging (0.992)
Likely pathogenic
c.2558A>G
p.Asp853Gly
g.51950289T>C
rs752634617
exon10
A-domain
Missense
/
Possibly damaging(0.529)
Likely pathogenic
c.2549C>T
p.Thr850Ile
g.51950298G>A
rs777629392
exon10
A-domain
Missense
Damaging (0.001)
Benign (0.037)
Likely pathogenic
c.2539G>A
p.Glu847Lys
g.51950308C>T
rs1957917294
exon10
A-domain
Missense
Tolerated (0.053)
Probably damaging (0.995)
Likely pathogenic
c.2537T>C
p.Leu846Pro
g.51950310A>G
n.a
exon10
A-domain
Missense
/
/
Pathogenic
c.2534T>C
p.Val845Ala
g.51950313A>G
n.a
exon10
A-domain
Missense
Damaging (0.000)
Probably damaging (0.999)
Likely pathogenic
c.2532delA
p.Val845Serfs*28
g.51950315del
rs755709270
exon10
A-domain
Frameshift
n.a
n.a
Pathogenic
c.2530A>T
p.Lys844*
g.51950317T>A
rs780292767
exon10
A-domain
Nonsense
n.a
n.a
Pathogenic
c.2527G>A
p.Gly843Arg
g.51950320C>T
rs1452859057
exon10
A-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2525A>G
p.Asp842Gly
g.51950322T>C
n.a
exon10
A-domain
Missense
/
Probably damaging (0.999)
Likely pathogenic
c.2525A>T
p.Asp842Val
g.51950322T>A
n.a
exon10
A-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2524G>A
p.Asp842Asn
g.51950323C>T
n.a
exon10
A-domain
Silent
n.a
n.a
Likely benign
c.2524G>T
p.Asp842Tyr
g.51950323C>A
n.a
exon10
A-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.2522T>G
p.Val841Gly
g.51950325A>C
n.a
exon10
A-domain
Missense
/
Probably damaging (0.998)
Likely pathogenic
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.2512A>G
p.Lys838Glu
g.51950335T>C
rs748113748
exon10
A-domain
Missense
/
Probably damaging (0.992)
Likely 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.2507G>A
p.Gly836Glu
g.51950340C>T
rs773809011
exon10
A-domain
Missense
/
Probably damaging (1.000)
Likely 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.2501T>A
p.Val834Asp
g.51950346A>T
n.a
exon10
A-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
L2004138265 (Embase)
