c.3271T>C
p.Cys1091Arg
g.51942527A>G
n.a
exon15
N-domain
Missense
/
Probably damaging (0.979)
Likely pathogenic
c.3265G>A
p.Gly1089Arg
g.51942533C>T
rs1468895797
exon15
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3263T>C
p.Leu1088Ser
g.51942535A>G
rs753250853
exon15
N-domain
Missense
Tolerated (0.071)
Probably damaging (1.000)
Likely pathogenic
c.3247C>T
p.Leu1083Phe
g.51942551G>A
rs1286080173
exon15
N-domain
Missense
/
Probably damaging (1.000)
Pathogenic
c.3244-34A>G
n.a
g.51942588T>C
n.a
intron14
/
/
n.a
n.a
Uncertain significance
c.3244-2A>C
n.a
g.51942556T>G
rs786204584
intron14
N-domain
Splicing
n.a
n.a
Pathogenic
c.3244-2A>G
n.a
g.51942556T>C
rs786204584
intron14
N-domain
Splicing
n.a
n.a
Pathogenic
c.3243G>A
p.Glu1081Glu
g.51944109C>T
rs768229037
exon14
N-domain
Silent/Splicing
n.a
n.a
Pathogenic
c.3243+5G>A
n.a
g.51944104C>T
rs373193482
intron14
N-domain
Splicing
n.a
n.a
Uncertain significance
c.3243+38A>G
n.a
g.51944071T>C
rs17076116
intron14
/
/
n.a
n.a
Uncertain significance
c.3236G>A
p.Cys1079Tyr
g.51944116C>T
rs1064797072
exon14
N-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.3236G>T
p.Cys1079Phe
g.51944116C>A
rs1064797072
exon14
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3229_3236dup
p.Cys1079*
g.51944116_51944123dup
n.a
exon14
N-domain
Frameshift
n.a
n.a
Pathogenic
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.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.3200G>A
p.Ser1067Asn
g.51944152C>T
rs2085422358
exon14
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3188C>T
p.Ala1063Val
g.51944164G>A
rs587783309
exon14
N-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3182G>A
p.Gly1061Glu
g.51944170C>T
rs764131178
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.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.3140A>T
p.Asp1047Val
g.51944212T>A
rs1395504465
exon14
N-domain
Missense
Damaging (0.019)
Probably damaging (0.992)
Likely 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
c.3104G>T
p.Gly1035Val
g.51944248C>A
rs753594031
exon14
N-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.3098C>T
p.Thr1033Ile
g.51944254G>A
n.a
exon14
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3095T>C
p.Ile1032Thr
g.51944257A>G
n.a
exon14
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3089G>A
p.Gly1030Asp
g.51944263C>T
n.a
exon14
P-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
c.3089G>T
p.Gly1030Val
g.51944263C>A
n.a
exon14
P-domain
Missense
/
Probably damaging (1.000)
Likely pathogenic
c.3087dupT
p.Gly1030Trpfs*39
g.51944265dup
n.a
exon14
P-domain
Frameshift
n.a
n.a
Pathogenic
c.3087delT
p.Gly1030Alafs*91
g.51944265del
n.a
exon14
P-domain
Frameshift
n.a
n.a
Pathogenic
c.3085A>G
p.Thr1029Ala
g.51944267T>C
n.a
exon14
P-domain
Missense
/
Probably damaging (1.000)
Pathogenic
c.3083A>G
p.Lys1028Arg
g.51944269T>C
rs1268840062
exon14
P-domain
Missense
/
Probably damaging (0.993)
Likely pathogenic
c.3079G>C
p.Asp1027His
g.51944273C>G
rs1593672840
exon14
P-domain
Missense
Damaging (0.001)
Probably damaging (1.000)
Likely pathogenic
c.3074T>G
p.Met1025Arg
g.51944278A>C
rs1555286633
exon14
P-domain
Missense
/
Possibly damaging(0.536)
Likely pathogenic
c.3071_3072del
p.Val1024Aspfs*3
g.51944280_51944281del
rs1957519682
exon14
P-domain
Frameshift
n.a
n.a
Pathogenic
c.3061-3C>A
n.a
g.51944294G>T
n.a
intron13
P-domain
Splicing
n.a
n.a
Likely pathogenic
c.3060+5G>T
n.a
g.51946279C>A
rs1353373400
intron13
P-domain
Splicing
n.a
n.a
Likely pathogenic
c.3056A>C
p.His1019Pro
g.51946288T>G
n.a
exon13
P-domain
Missense
Damaging (0.002)
Probably damaging (1.000)
Likely pathogenic
c.3056A>T
p.His1019Leu
g.51946288T>A
n.a
exon13
P-domain
Missense
Damaging (0.002)
Probably damaging (0.999)
Likely pathogenic
c.3053C>T
p.Ala1018Val
g.51946291G>A
rs371840514
exon13
TM6/P-domain
Missense
Damaging (0.060)
Probably damaging (0.999)
Likely pathogenic
c.3052G>A
p.Ala1018Thr
g.51946292C>T
n.a
exon13
TM6/P-domain
Missense
Damaging (0.031)
Probably damaging (0.998)
Likely pathogenic
c.3045G>A
p.Leu1015Leu
g.51946299C>T
rs1801248
exon13
TM6/P-domain
Silent
n.a
n.a
Benign
c.3044T>C
p.Leu1015Pro
g.51946300A>G
rs1334355798
exon13
TM6/P-domain
Missense
Damaging (0.000)
Probably damaging (1.000)
Likely pathogenic
