Number of affected patients
cDNA change (NM_000062.2)
Predicted effect on protein
ENST00000278407.8
Exon
Variant type
PolyPhen2°
1 c.5C>T p.Ala2Val rs185342631 2 Missense 0.987
2 с.51+3A>G CS053487 2 Splicing
3 c.249delT p.Asp84Metfs*64 3 Frameshift
1 с.289C>Т р.Gln97S* CM128686 3 Nonsense
1 c.301C>T p.Gln101* 3 Nonsense
1 c. 387_388delCT p. Leu129Leufs131*2 3 Frameshift
1 с.520_524del ATCGC p.Ile174Glnfs254*81 3 Frameshift
7 с.550+2T>C rs112666115 3 Splicing
2 c.551-2A>C rs113574262 4 Splicing
2 c.551-1G>A 4 Splicing
6 c.551-1G>C 4 Splicing
3 del exon 4 4 Large del
2 c.744_745delCA p.Arg249Serfs*7 5 Frameshift
2 c.890-2A>G D0077: g.9903 A→G 6 Splicing
1 c.1001A>C p.His334Pro 6 Missense 0.969
1 c.1037A>C p.Gln346Pro 7 Missense 0.996
4 с.1058T>C p.Leu353Pro 7 Missense 1
2 c.1106delA p.Asp369Alafs*28 CD033556 7 Frameshift
1 с. 1202T>C p.Ile401Thr 7 Missense 0.949
5 с.1293delA p.Glu432Argfs*18 8 Frameshift
7 с.1396C>Ta p.Arg466Cys rs28940870 8 Missense 0.921
3 c.1397G>Aa p.Arg466His rs121907948 8 Missense 0.66
5 с.1478G>A p.Gly493Glu CM022845 8 Missense 1
1 c.1493C>T p.Pro498Leu 8 Missense 1