|
Family 1
|
1
|
<1%
|
Severe
|
c.90-91insA; p.12(31)LfsX11
|
Insertion
|
Exon 1
|
A1
|
No
|
Novel
|
|
Family 2
|
1
|
5%
|
Moderate
|
c.1615 G>C; p.G520(539)R
|
Missense
|
Exon 11
|
A2
|
No
|
Novel
|
|
Family 3
|
1
|
2.5%
|
Moderate
|
ag/GGC>ac/GGC
|
Splicing
|
Intron14
|
B
|
No
|
Reported
|
|
Family 4
|
1
|
<1%
|
Severe
|
Exons1-13del
|
Large deletion
|
Exons 1-13
|
A1-A2
|
Yes
|
Novel
|
|
Family 5
|
1
|
<1%
|
Severe
|
c.592 T>C; p.C179(198)R
|
Missense
|
Exon 4
|
A1
|
No
|
Novel
|
|
Family 6
|
2
|
<1%
|
Severe
|
c.4844ins264pb
|
Large insertion
|
Exon 14
|
A1
|
No
|
Novel
|
|
Family 7
|
1
|
12.5%
|
Moderate
|
c.2236-2237insT; p.727(746)SfsX7
|
Insertion
|
Exon 14
|
B
|
No
|
Novel
|
|
Family 11
|
2
|
<1%
|
Severe
|
c.3637-3638insA; p.1191(1210)IfsX29
|
Insertion
|
Exon 14
|
B
|
No
|
Reported
|
|
Family 13
|
1
|
<1%
|
Severe
|
c.4379-4380insA; p.1441(1460)KfsX2
|
Insertion
|
Exon 14
|
B
|
No
|
Reported
|
|
Family 14
|
1
|
<1%
|
Severe
|
c.6873-6876delTC; p.2272(2291)TfsX
|
Deletion
|
Exon 25
|
C2
|
No
|
Reported
|
|
Family 15
|
1
|
<1%
|
Severe
|
c.3637-3638delA; p.1191(1210)IfsX5
|
Deletion
|
Exon 14
|
B
|
No
|
Reported
|
|
Family 16
|
1
|
<1%
|
Severe
|
c.5071-5075delATGAA; p.1671-3(1690–3)fsX
|
Deletion
|
Exon 14
|
B
|
No
|
Reported
|
|
Family 17
|
2
|
<1%
|
Severe
|
c.77 T>C; p.L7(26)P
|
Missense
|
Exon 1
|
A1
|
No
|
Reported
|
|
Family 18
|
1
|
4.4%
|
Moderate
|
c.1492 G>A; p.G479(498)R
|
Missense
|
Exon 10
|
A2
|
No
|
Reported
|
|
Family 19
|
1
|
6.5%
|
Mild
|
c.1696 C>T; p.L547(566)F
|
Missense
|
Exon 11
|
A2
|
No
|
Reported
|
|
Family 20
|
1
|
1.6%
|
Moderate
|
c.3870-3871insA; p.1271(1290)KfsX29
|
Insertion
|
Exon 14
|
B
|
No
|
Reported
|
|
Family 21
|
3
|
12-20%
|
Mild
|
c.2167 G>A; p. A704(723)T
|
Missense
|
Exon 14
|
B
|
No
|
Reported
|
|
Family 22
|
1
|
<1%
|
Severe
|
c.2409 T>C; p.N784(803)N
|
Missense
|
Exon 14
|
B
|
No
|
Novel
|
