c.3845dupT
p.Ala1283GlyFs*21
g.51937534dup
rs1957043255
exon18
P-domain
Frameshift
n.a
n.a
Pathogenic
c.3843dupT
p.Val1282Cysfs*22
g.51937536dup
n.a
exon18
P-domain
Frameshift
n.a
n.a
Pathogenic
c.3842G>A
p.Gly1281Asp
g.51937537C>T
rs755202606
exon18
P-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.3841G>T
p.Gly1281Cys
g.51937538C>A
rs1957043636
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3839T>G
p.Met1280Arg
g.51937540A>C
n.a
exon18
P-domain
Missense
Damaging (0.000)
Benign (0.084)
Likely pathogenic
c.3839_3840insTAC
p.Met1280delinsIT
g.51937539_51937540insGTA
n.a
exon18
P-domain
Inframe insertion/deletion
n.a
n.a
Likely pathogenic
c.3836A>G
p.Asp1279Gly
g.51937543T>C
rs778914828
exon18
P-domain
Missense
Damaging (0.008)
Probably damaging (0.999)
Likely pathogenic
c.3836dupA
p.Asp1279Glufs*25
g.51937543dup
n.a
exon18
P-domain
Frameshift
n.a
n.a
Pathogenic
c.3835G>T
p.Asp1279Tyr
g.51937544C>A
n.a
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3833C>G
p.Ala1278Gly
g.51937546G>C
rs1375884723
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3833C>T
p.Ala1278Val
g.51937546G>A
rs1375884723
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3832G>A
p.Ala1278Thr
g.51937547C>T
n.a
exon18
P-domain
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.3831_3835delinsC
p.Gln1277Hisfs*52
g.51937544_51937548delinsG
n.a
exon18
P-domain
Frameshift
n.a
n.a
Pathogenic
c.3829C>T
p.Gln1277*
g.51937550G>A
n.a
exon18
P-domain
Nonsense
n.a
n.a
Pathogenic
c.3824T>C
p.Leu1275Ser
g.51937555A>G
rs1957044307
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3821C>T
p.Ala1274Val
g.51937558G>A
rs1555283882
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3820G>A
p.Ala1274Thr
g.51937559C>T
n.a
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3818C>A
p.Pro1273Gln
g.51937561G>T
rs758355520
exon18
P-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.3818C>T
p.Pro1273Leu
g.51937561G>A
rs758355520
exon18
P-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Pathogenic
c.3817C>T
p.Pro1273Ser
g.51937562G>A
rs1250943420
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3815C>G
p.Ser1272Cys
g.51937564G>C
rs1957045038
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3815C>T
p.Ser1272Tyr
g.51937564G>A
rs1957045038
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3813C>A
p.Asp1271Glu
g.51937566G>T
n.a
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3812A>C
p.Asp1271Ala
g.51937567T>G
rs1957045165
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
L2004138265 (Embase)
c.3811G>A
p.Asp1271Asn
g.51937568C>T
n.a
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3809A>C
p.Asn1270Thr
g.51937570T>G
rs121907990
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3809A>G
p.Asn1270Ser
g.51937570T>C
rs121907990
exon18
P-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Pathogenic
c.3809A>T
p.Asn1270Ile
g.51937570T>A
rs121907990
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3808A>G
p.Asn1270Asp
g.51937571T>C
rs916557902
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3802G>A
p.Gly1268Arg
g.51937577C>T
rs1314712150
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3800A>C
p.Asp1267Ala
g.51937579T>G
rs1555283916
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3800A>G
p.Asp1267Gly
g.51937579T>C
rs1555283916
exon18
P-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.3800A>T
p.Asp1267Val
g.51937579T>A
rs1555283916
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3799delG
p.Asp1267Metfs*63
g.51937580del
n.a
exon18
P-domain
Frameshift
n.a
n.a
Pathogenic
L2007097869 (Embase)
c.3799G>A
p.Asp1267Asn
g.51937580C>T
n.a
exon18
P-domain
Missense
Damaging (0.000)
Probably damaging (0.997)
Likely pathogenic
c.3798G>T
p.Gly1266Gly
g.51937581C>A
rs1048771325
exon18
P-domain
Silent
n.a
n.a
Likely benign
c.3797G>A
p.Gly1266Glu
g.51937582C>T
rs1566444586
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3797G>T
p.Gly1266Val
g.51937582C>A
rs1566444586
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3796G>A
p.Gly1266Arg
g.51937583C>T
rs121907992
exon18
P-domain
Missense
/
Probably damaging (1.000)
Pathogenic
c.3796G>C
p.Gly1266Arg
g.51937583C>G
rs121907992
exon18
P-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Pathogenic
c.3796G>T
p.Gly1266Trp
g.51937583C>A
rs121907992
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3796_3797delinsAA
p.Gly1266Lys
g.51937582_51937583delinsTT
n.a
exon18
P-domain
Missense
/
Probably damaging (0.998)
Likely pathogenic
c.3794_3797dupTGGG
p.Asp1267Glyfs*6
g.51937582_51937585dup
n.a
exon18
P-domain
Frameshift
n.a
n.a
Pathogenic
c.3794_3803del
p.Val1265Glyfs*62
g.51937576_51937585del
n.a
exon18
P-domain
Frameshift
n.a
n.a
Pathogenic
c.3793G>A
p.Val1265Met
g.51937586C>T
rs1957046996
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3793G>T
p.Val1265Leu
g.51937586C>A
rs1957046996
exon18
P-domain
Missense
/
Probably damaging (0.999)
Likely pathogenic
c.3791T>C
p.Met1264Thr
g.51937588A>G
n.a
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3787delG
p.Ala1263Profs*67
g.51937592del
rs758147392
exon18
P-domain
Frameshift
n.a
n.a
Pathogenic
c.3784G>T
p.Val1262Phe
g.51937595C>A
rs769484789
exon18
P-domain
Missense
/
Probably damaging (1.000)
Pathogenic
c.3776G>A
p.Gly1259Glu
g.51937603C>T
rs1248574088
exon18
P-domain
Missense
/
Probably damaging (0.992)
Likely pathogenic
