c.4014T>A
p.Ile1338Ile
g.51937283A>T
rs762097856
exon19
TM7
Silent/Splicing
n.a
n.a
Likely pathogenic
c.4009C>G
p.Pro1337Ala
g.51937288G>C
n.a
exon19
TM7
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.4007T>C
p.Ile1336Thr
g.51937290A>G
rs1957026103
exon19
TM7
Missense
/
Probably damaging(0.998)
Likely pathogenic
c.4006A>G
p.Ile1336Val
g.51937291T>C
n.a
exon19
TM7
Missense
/
Possibly damaging(0.709)
Likely pathogenic
c.4006delA
p.Ile1336Tyrfs*57
g.51937291del
rs1555283564
exon19
TM7
Frameshift
n.a
n.a
Pathogenic
c.4005dupG
p.Ile1336Aspfs*42
g.51937292dup
n.a
exon19
TM7
Frameshift
n.a
n.a
Pathogenic
c.4005delG
p.Ile1336Tyrfs*57
g.51937292del
n.a
exon19
TM7
Frameshift
n.a
n.a
Pathogenic
c.4005_4006insTTATAATGGGTTGCG
p.1335_1336insL*WVA
g.51937291_51937292insCGCAACCCATTATAA
n.a
exon19
TM7
Inframe insertion
n.a
n.a
Pathogenic
c.4004G>A
p.Gly1335Glu
g.51937293C>T
rs1957026370
exon19
TM7
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.4003G>C
p.Gly1335Arg
g.51937294C>G
n.a
exon19
TM7
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.4001T>A
p.Val1334Asp
g.51937296A>T
n.a
exon19
TM7
Missense
/
Probably damaging(0.987)
Likely pathogenic
c.3999G>T
p.Leu1333Leu
g.51937298C>A
rs186435141
exon19
TM7
Silent
n.a
n.a
Likely benign
c.3998T>C
p.Leu1333Pro
g.51937299A>G
n.a
exon19
TM7
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3996C>A
p.Asn1332Lys
g.51937301G>T
n.a
exon19
TM7
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3994A>G
p.Asn1332Asp
g.51937303T>C
n.a
exon19
TM7
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3993T>G
p.Tyr1331*
g.51937304A>C
n.a
exon19
TM7
Nonsense
n.a
n.a
Pathogenic
c.3992A>C
p.Tyr1331Ser
g.51937305T>G
rs1131691741
exon19
TM7
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3992A>G
p.Tyr1331Cys
g.51937305T>C
rs1131691741
exon19
TM7
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3986T>C
p.Leu1329Pro
g.51937311A>G
n.a
exon19
TM7
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3985C>T
p.Leu1329Leu
g.51937312G>A
n.a
exon19
TM7
Silent
n.a
n.a
Likely benign
c.3983C>T
p.Ala1328Val
g.51937314G>A
rs1593644515
exon19
TM7
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.3982G>A
p.Ala1328Thr
g.51937315C>T
rs1333619338
exon19
TM7
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.3980T>C
p.Leu1327Pro
g.51937317A>G
n.a
exon19
TM7
Missense
/
Probably damaging(0.997)
Likely pathogenic
c.3979C>G
p.Leu1327Val
g.51937318G>C
n.a
exon19
TM7
Missense
/
Possibly damaging(0.948)
Likely pathogenic
c.3973C>T
p.Leu1325Leu
g.51937324G>A
rs182060222
exon19
TM7
Silent
n.a
n.a
Likely benign
c.3973dupC
p.Leu1325Profs*8
g.51937324dup
n.a
exon19
TM7
Frameshift
n.a
n.a
Pathogenic
c.3973delC
p.Leu1325Trpfs*3
g.51937324del
n.a
exon19
TM7
Frameshift
n.a
n.a
Pathogenic
L2004138265 (Embase)
c.3971A>C
p.Asn1324Thr
g.51937326T>G
rs760285767
exon19
TM7
Missense
/
Probably damaging (1.000)
Likely pathogenic
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.3962T>A
p.Ile1321Lys
g.51937335A>T
n.a
exon19
TM7
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3960G>C
p.Arg1320Ser
g.51937337C>G
rs778732681
exon19
TM7
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.3959G>C
p.Arg1320Thr
g.51937338C>G
rs548512104
exon19
TM7
Missense
/
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.3948delG
p.Thr1317Leufs*13
g.51937349del
rs1057516228
exon19
TM7
Frameshift
n.a
n.a
Pathogenic
c.3942_3943delCA
p.Lys1315Glufs*17
g.51937354_51937355del
rs1057516227
exon19
TM7
Frameshift
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.3938T>C
p.Leu1313Pro
g.51937359A>G
n.a
exon19
TM7
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3937C>G
p.Leu1313Val
g.51937360G>C
n.a
exon19
TM7
Missense
/
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.3932T>C
p.Ile1311Thr
g.51937365A>G
n.a
exon19
TM7
Missense
/
Probably damaging (0.999)
Likely pathogenic
c.3928A>C
p.Ser1310Arg
g.51937369T>G
rs1210164486
exon19
TM7
Missense
/
Probably damaging(0.971)
Likely pathogenic
c.3926C>T
p.Ala1309Val
g.51937371G>A
n.a
exon19
TM7
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3925G>C
p.Ala1309Pro
g.51937372C>G
n.a
exon19
TM7
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3922delG
p.Val1308Trpfs*22
g.51937375del
n.a
exon19
TM7
Frameshift
n.a
n.a
Pathogenic
c.3920T>A
p.Val1307Glu
g.51937377A>T
n.a
exon19
TM7
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.3917A>T
p.Asp1306Val
g.51937380T>A
n.a
exon19
TM7
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.3916G>T
p.Asp1306Tyr
g.51937381C>A
rs1189562367
exon19
TM7
Missense
/
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
