Novel/ reported | No | Exon | Nucleotide alterationa | Protein alteration | Allele frequency | ACMG/AMP grading | HGMD/Clinvar accession | Population frequency (GnomAD, v2.1.1) | |
---|---|---|---|---|---|---|---|---|---|
Classification | Evidence code | ||||||||
Novel | 1 | Exon 1 | c.2T>A | p.M1K | 1/44 | P | PVS1, PM2, PP1, PP3, PP4 | N/A | N/A |
2 | Exon 1 | c.43G>T | p.G15* | 1/44 | P | PVS1, PM2, PP1, PP3, PP4 | N/A | N/A | |
3 | Exon 2 | c.130_131delinsTATT | p.C44Yfs*3 | 1/44 | P | PVS1, PM2, PP1, PP3, PP4 | N/A | N/A | |
4 | Exon 5 | c.305delA | p.H102Lfs*2 | 2/44 | P | PVS1, PM2, PP1, PP3, PP4 | N/A | N/A | |
5 | Exon 5 | c.331_332delTG | p.V112Wfs*7 | 1/44 | P | PVS1, PM2, PP1, PP3, PP4 | N/A | N/A | |
6 | Exon 7 | c.524G>A | p.G175D | 1/44 | LP | PM2, PM5, PP1, PP3, PP4 | N/A | N/A | |
7 | Exon 9 | c.683G>T | p.G228V | 1/44 | LP | PM2, PM5, PP1, PP3, PP4 | N/A | N/A | |
8 | Exon 9–22 | exon 9–22 del | N/A | 1/44 | LP | PVS1, PM2, PP1, PP4 | N/A | N/A | |
9 | Exon 10 | c.734C>G | p.S245* | 2/44 | LP | PVS1, PM2, PP1, PP3, PP4 | N/A | N/A | |
10 | Exon 10 | c.803G>T | p.R268L | 1/44 | LP | PM2, PM5, PP1, PP3, PP4 | N/A | N/A | |
11 | Exon 11 | c.869G>A | p.C290Y | 1/44 | LP | PM2, PM5, PP1, PP3, PP4 | N/A | N/A | |
12 | Exon 11 | c.872C>T | p.S291L | 1/44 | LP | PM2, PM5, PP1, PP3, PP4 | N/A | N/A | |
13 | Exon 12 | c.917dupT | p.L308Ffs*35 | 1/44 | P | PVS1, PM2, PP1, PP3, PP4 | N/A | N/A | |
14 | Exon 13 | c.1066G>C | p.V356L | 1/44 | LP | PM2, PM3, PP1, PP3, PP4 | N/A | N/A | |
15 | Exon 13 | c.1074_1076delTCC | p.359del | 1/44 | LP | PM2, PM4, PP1, PP3, PP4 | N/A | N/A | |
16 | Exon 15 | c.1328_1329insT | p.Y444Lfs*3 | 1/44 | P | PVS1, PM2, PP1, PP3, PP4 | N/A | N/A | |
17 | Exon 22 | c.1919delC | p.R641Dfs*6 | 1/44 | P | PVS1, PM2, PP1, PP3, PP4 | N/A | N/A | |
18 | Exon 23 | c.2077A>T | p.M693L | 1/44 | LP | PM2, PM3, PP1, PP3, PP4 | N/A | N/A | |
19 | Exon 24 | c.2162_2163insAAGG | p.D722Rfs*12 | 1/44 | P | PVS1, PM2, PP1, PP3, PP4 | N/A | N/A | |
Reported | 20 | Intron 1 | c.105+1G>A | splicing | 1/44 | N/A | N/A | VCV000218251 | N/A |
21 | Exon 3 | c.229C>T | p.R77W | 4/44 | N/A | N/A | CM991015 | 0.00001997 | |
22 | Exon 3 | c.229_230insGGGTGAGTAG | p.I79Sfs*5 | 1/44 | N/A | N/A | CM991015 | N/A | |
23 | Intron 3 | c.231+1G>T | splicing | 1/44 | N/A | N/A | CS066305 | 0.00001419 | |
24 | Exon 4 | c.245G>A | p.C82Y | 2/44 | N/A | N/A | CM1510638 | N/A | |
25 | Exon 12 | c.936dupT | p.R313Sfs*30 | 1/44 | N/A | N/A | CM991019 | N/A | |
26 | Exon 12 | c.937C>T | p.R313* | 6/44 | N/A | N/A | VCV00038870 | 0.00003538 | |
27 | Exon 13 | c.1079T>G | p.V360G | 1/44 | N/A | N/A | CM087558 | N/A | |
28 | Exon 15 | c.1288C>T | p.R430* | 2/44 | N/A | N/A | CM139564 | 0.000007102 | |
29 | Exon 15–16 | Del | N/A | 1/44 | N/A | N/A | CG091566 | N/A | |
30 | Exon 22 | c.2002G>A | p.G668R | 6/44 | N/A | N/A | CM991025 | 0.00001193 |