c.3235T>G
p.Cys1079Gly
g.51944117A>C
rs1376645882
exon14
N-domain
Missense
/
Probably damaging (0.999)
Likely pathogenic
c.3234C>G
p.Tyr1078*
g.51944118C>G
n.a
exon14
N-domain
Nonsense
n.a
n.a
Pathogenic
c.3233A>G
p.Tyr1078Cys
g.51944119T>C
n.a
exon14
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3231A>G
p.Lys1077Lys
g.51944121T>C
n.a
exon14
N-domain
Silent
n.a
n.a
Likely benign
c.3229A>G
p.Lys1077Glu
g.51944123T>C
n.a
exon14
N-domain
Missense
/
Probably damaging (0.992)
Likely pathogenic
c.3229_3236dup
p.Cys1079*
g.51944116_51944123dup
n.a
exon14
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3227C>T
p.Thr1076Ile
g.51944125G>A
n.a
exon14
N-domain
Missense
/
Probably damaging (0.999)
Likely pathogenic
c.3222_3243+21del43
Exon 14_intron 14 del
g.51944088_51944130del
n.a
/
N-domain
Large fragment deletion
n.a
n.a
Pathogenic
L2004138265 (Embase)
c.3221C>T
p.Ala1074Val
g.51944131G>A
rs1206016866
exon14
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3220G>A
p.Ala1074Thr
g.51944132C>T
rs1196142320
exon14
N-domain
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.3215G>T
p.Gly1072Val
g.51944137C>A
rs1397311718
exon14
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3212T>C
p.Leu1071Ser
g.51944140A>G
n.a
exon14
N-domain
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.3212T>G
p.Leu1071Trp
g.51944140A>C
n.a
exon14
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3211T>G
p.Leu1071Val
g.51944141A>C
rs748003525
exon14
N-domain
Missense
/
Probably damaging (0.999)
Likely pathogenic
L635175523 (Embase)
c.3210C>T
p.Pro1070Pro
g.51944142G>A
rs587783310
exon14
N-domain
Silent
n.a
n.a
Likely benign
c.3209C>G
p.Pro1070Arg
g.51944143G>C
rs1173623580
exon14
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3207C>A
p.His1069Gln
g.51944145G>T
rs76151636
exon14
N-domain
Missense
/
Probably damaging (1.000)
Pathogenic
c.3207C>T
p.His1069Tyr
g.51944145G>A
rs76151636
exon14
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3205C>A
p.His1069Asn
g.51944147G>T
rs1001437239
exon14
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3205C>T
p.His1069Tyr
g.51944147G>A
rs1001437239
exon14
N-domain
Missense
/
Probably damaging (1.000)
Pathogenic
c.3203A>G
p.Glu1068Gly
g.51944149T>C
rs1555286478
exon14
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3201T>G
p.Ser1067Arg
g.51944151A>C
n.a
exon14
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3200G>A
p.Ser1067Asn
g.51944152C>T
rs2085422358
exon14
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3199A>G
p.Ser1067Gly
g.51944153T>C
n.a
exon14
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3193G>C
p.Ala1065Pro
g.51944159C>G
n.a
exon14
N-domain
Missense
/
Probably damaging (0.998)
Likely pathogenic
c.3191A>C
p.Glu1064Ala
g.51944161T>G
rs374094065
exon14
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3190G>A
p.Glu1064Lys
g.51944162C>T
rs376910645
exon14
N-domain
Missense
/
Probably damaging (1.000)
Pathogenic
c.3188C>T
p.Ala1063Val
g.51944164G>A
rs587783309
exon14
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3188C>G
p.Ala1063Gly
g.51944164G>C
rs587783309
exon14
N-domain
Missense
/
/
Likely pathogenic
c.3182G>A
p.Gly1061Glu
g.51944170C>T
rs764131178
exon14
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3182_3183delinsAT/AC
p.Gly1061Asp
g.51944169_51944170delinsTA/TG
n.a
exon14
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3181G>C
p.Gly1061Arg
g.51944171C>G
rs1349853812
exon14
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3181G>T
p.Gly1061Trp
g.51944171C>A
rs1349853812
exon14
N-domain
Missense
Damaging (0.006)
Probably damaging (0.978)
Likely pathogenic
c.3173C>A
p.Ala1058Asp
g.51944179G>T
n.a
exon14
N-domain
Missense
Damaging (0.002)
Probably damaging (1.000)
Likely pathogenic
c.3170T>C
p.Leu1057Pro
g.51944182A>G
rs373601229
exon14
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3168delT
p.Leu1057Trpfs∗64
g.51944184del
n.a
exon14
N-domain
Frameshift
n.a
n.a
Pathogenic
L71497209 (Embase)
c.3160A>C
p.Arg1054Arg
g.51944192T>G
rs377586515
exon14
N-domain
Silent
n.a
n.a
Likely benign
c.3157dupC
p.Leu1053Profs*16
g.51944195dup
rs1555286522
exon14
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3155C>T
p.Pro1052Leu
g.51944197G>A
rs778543794
exon14
N-domain
Missense
Damaging (0.022)
Probably damaging (0.963)
Pathogenic
c.3151C>T
p.Leu1051Leu
g.51944201G>A
rs534622837
exon14
N-domain
Silent
n.a
n.a
Likely benign
c.3147delC
p.Thr1050Hisfs*71
g.51944205del
rs762031690
exon14
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3140A>G
p.Asp1047Gly
g.51944212T>C
rs1395504465
exon14
N-domain
Missense
/
Possibly damaging (0.949)
Likely pathogenic
c.3140A>T
p.Asp1047Val
g.51944212T>A
rs1395504465
exon14
N-domain
Missense
Damaging (0.019)
Probably damaging (0.992)
Likely pathogenic
c.3140delA
p.Asp1047Valfs*74
g.51944212del
n.a
exon14
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3140_3141insA/G
p.Asp1047Glufs*22
g.51944211_51944212insT/C
rs1957514480
exon14
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3134_3556+689del
Exon 14_intron 16 del
g.51940392_51944218del
n.a
/
N-domain
Large fragment deletion
n.a
n.a
Pathogenic
c.3128T>C
p.Leu1043Pro
g.51944224A>G
rs1412025509
exon14
N-domain
Missense
/
Probably damaging (0.999)
Likely pathogenic
c.3124delG
p.Val1042Cysfs*79
g.51944228del
n.a
exon14
N-domain
Frameshift
n.a
n.a
Pathogenic
c.3122G>C
p.Arg1041Pro
g.51944230C>G
n.a
exon14
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3121C>T
p.Arg1041Trp
g.51944231G>A
rs746485916
exon14
N-domain
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
