c.3971A>G
p.Asn1324Ser
g.51937326T>C
rs760285767
exon19
TM7
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.3965G>C
p.Arg1322Pro
g.51937332C>G
rs753330854
exon19
TM7
Missense
/
Probably damaging(0.996)
Likely pathogenic
c.3960G>C
p.Arg1320Ser
g.51937337C>G
rs778732681
exon19
TM7
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.3956G>A
p.Arg1319Gln
g.51937341C>T
rs529307157
exon19
TM7
Missense
/
Possibly damaging(0.494)
Likely pathogenic
c.3955C>T
p.Arg1319*
g.51937342G>A
rs193922109
exon19
TM7
Nonsense
n.a
n.a
Pathogenic
c.3941C>G
p.Ser1314Cys
g.51937356G>C
rs1957030159
exon19
TM7
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.3932T>A
p.Ile1311Asn
g.51937365A>T
n.a
exon19
TM7
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.3921del
p.Val1308Trpfs*22
g.51937375del
n.a
exon19
TM7
Frameshift
n.a
n.a
Pathogenic
c.3917A>T
p.Asp1306Val
g.51937380T>A
n.a
exon19
TM7
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.3914T>C
p.Leu1305Pro
g.51937383A>G
rs377144951
exon19
TM7
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.3910T>A
p.Leu1304Met
g.51937387A>T
n.a
exon19
P-domain/TM7
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3904-3C>G
n.a
g.51937396G>C
n.a
intron18
P-domain
Splicing
n.a
n.a
Uncertain significance
c.3903+1G>T
n.a
g.51937475C>A
n.a
intron18
P-domain
Splicing
n.a
n.a
Pathogenic
c.3903+2T>G
n.a
g.51937474A>C
n.a
intron18
P-domain
Splicing
n.a
n.a
Pathogenic
c.3903+5G>A
n.a
g.51937471C>T
rs1248072291
intron18
P-domain
Splicing
n.a
n.a
Uncertain significance
c.3903+6C>T
n.a
g.51937470G>A
rs2282057
intron18
P-domain
/
n.a
n.a
Benign
c.3901dupA
p.Arg1301Lysfs*3
g.51937478dup
n.a
exon18
P-domain
Frameshift
n.a
n.a
Pathogenic
c.3896T>G
p.Leu1299Arg
g.51937483A>C
n.a
exon18
P-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.3892_3894del
p.Val1298del
g.51937485_51937487del
n.a
exon18
P-domain
Inframe deletion
n.a
n.a
Likely pathogenic
c.3891C>T
p.Val1297Val
g.51937488G>A
rs114771537
exon18
P-domain
Silent
n.a
n.a
Likely benign
c.3889G>A
p.Val1297Ile
g.51937490C>T
rs148399850
exon18
P-domain
Missense
/
Possibly damaging(0.871)
Uncertain significance
c.3884C>T
p.Ala1295Val
g.51937495G>A
rs1340942427
exon18
P-domain
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.3883_3892delinsCA
p.Ala1295Hisfs*6
g.51937487_51937496delinsTG
n.a
exon18
P-domain
Frameshift
n.a
n.a
Pathogenic
c.3877G>A
p.Glu1293Lys
g.51937502C>T
rs776300396
exon18
P-domain
Missense
Damaging (0.001)
Probably damaging (0.999)
Likely pathogenic
c.3871G>A
p.Ala1291Thr
g.51937508C>T
n.a
exon18
P-domain
Missense
Damaging (0.008)
Probably damaging (0.995)
Likely pathogenic
c.3870delG
p.Ala1291Profs*39
g.51937509del
n.a
exon18
P-domain
Frameshift
n.a
n.a
Pathogenic
c.3861C>G
p.Gly1287Gly
g.51937518G>C
n.a
exon18
P-domain
Silent
n.a
n.a
Likely benign
c.3860G>A
p.Gly1287Asp
g.51937519C>T
n.a
exon18
P-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.3859G>A
p.Gly1287Ser
g.51937520C>T
rs762866453
exon18
P-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.3859G>T
p.Gly1287Cys
g.51937520C>A
rs762866453
exon18
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3857C>T
p.Thr1286Ile
g.51937522G>A
rs751483318
exon18
P-domain
Missense
/
Probably damaging(0.997)
Likely pathogenic
c.3854G>A
p.Gly1285Asp
g.51937525C>T
n.a
exon18
P-domain
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.3851T>A
p.Ile1284Asn
g.51937528A>T
n.a
exon18
P-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.3851_3876del
p.Ile1284Argfs*11
g.51937503_51937528del
n.a
exon18
P-domain
Frameshift
n.a
n.a
Pathogenic
c.3848C>T
p.Ala1283Val
g.51937531G>A
n.a
exon18
P-domain
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely 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.3836A>G
p.Asp1279Gly
g.51937543T>C
rs778914828
exon18
P-domain
Missense
Damaging (0.008)
Probably damaging (0.999)
Likely pathogenic
c.3835G>T
p.Asp1279Tyr
g.51937544C>A
n.a
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.3824T>C
p.Leu1275Ser
g.51937555A>G
rs1957044307
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.3809A>G
p.Asn1270Ser
g.51937570T>C
rs121907990
exon18
P-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Pathogenic
c.3802G>A
p.Gly1268Arg
g.51937577C>T
rs1314712150
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.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
