| Allele 1 | Allele 2 | Localisation | Genotype group10/subcellular localisation subgroups | ||
---|---|---|---|---|---|---|
Family number | Label cDNA | Label Protein | Label cDNA | Label Protein | ||
1A1 | c.164G>T | p.(Cys55Phe) | c.599A>T | p.(His200Leu) | Exon 2 / Exon 4 | 3 |
1B1 | c.164G>T | p.(Cys55Phe) | c.599A>T | p.(His200Leu) | Exon 2 / Exon 4 | 3 |
2 | c.231G>A | p.(Trp77Ter) | c.2398G>C | p.(Gly800Arg) | Exon 2 / Exon 20 | 2* |
3 | c.283G>C | p.(Ala95Pro) | c.283G>C | p(.Ala95Pro) | Exon 3 / Exon 3 | 2 |
4 | c.283G>C | p.(Ala95Pro) | c.283G>C | p.(Ala95Pro) | Exon 3 / Exon 3 | 2 |
5 | c.304G>A | p.(Asp102Asn) | c.2885G>A | p.(Arg962His) | Exon 3 / Exon 23 | 3 |
6 | c. 338_348dup11 | p.(Ile117ProfsTer44) | c. 338_348dup11 | p.(Ile117ProfsTer44) | Exon 3 / Exon 3 | 1 |
7 | c.383G>A | p.(Trp128Ter) | c.383G>A | p.(Trp128Ter) | Exon 3 / Exon 3 | 1* |
8 | c.418C>T | p.(Arg140Ter) | c.418C>T | p.(Arg140Ter) | Exon 3 / Exon 3 | 1 |
9A2 | c.458G>T | p.(Gly153Val) | c.[1230+5G>A;c.2248C>T] | p.[?; Arg750Trp] | Exon 4 / Intron 9 | 3 |
9B2 | c.458G>T | p.(Gly153Va) l | c.[1230+5G>A; c.2248C>T] 11 | p.[?; Arg750Trp] | Exon 4 / Intron 9 | 3 |
10 | c.590C>G | p.(Pro197Arg) | c.2724G>A | p.(Trp908Ter) | Exon 4 / Exon 22 | 2* |
11 | c.598C>A | p.(His200Asn) | c.1548delT | p.(Leu518TrpfsTer5) | Exon 4 / Exon 13 | 3* |
12 | c.685C>T | p.(Arg229Trp) | c.2439_2444dup6 | p.(His814_Arg815dup) | Exon 5 / Exon 21 | 3* |
13 | c.783C>A | p.(Tyr261Ter) | c.783C>A | p.(Tyr261Ter) | Exon 6 / Exon 6 | 1 |
14 | c.788C>T | p.Pro263Leu | c.2355G>A | p.(Arg757MetfsTer6) | Exon 6 / Exon 19 | 3 |
15 | c.809dupA | p.(Asp270GlufsTer54) | c.2675dupT | p.(Arg893AlafsTer38) | Exon 6 / Exon 22 | 1 |
16 | c.812_813dupTG | p.(Leu272CysfsTer27) | c.812_813dupTG | p.(Leu272CysfsTer27) | Exon 6 / Exon 6 | 1 |
17 | c.909+731del6272 | p.Gly304del245 | c.953C>T | p.Ser318Leu | Intron 6-13 / Exon 7 | 3 |
18 | c.1026+2Â T>G | p.[Val339_Ala341del; p.Val339_Gln342del] | c.1830+1G>C | p.Val549_Glu610del | Intron 7 / Intron 14 | 2 |
19 | c.1047_1048dupCC | p.(His350ProfsTer15) | c.2248C>T | p.Arg750Trp | Exon 8 / Exon 18 | 2 |
20A3 | c.1055Â T>C | p.(Leu352Pro) | c.1055Â T>C | p.(Leu352Pro) | Exon 8 / Exon 8 | 2 |
20B3 | c.1055Â T>C | p.(Leu352Pro) | c.1055Â T>C | p.(Leu352Pro) | Exon 8 / Exon 8 | 2 |
21 | c.1152_1153dupCC | p.(His385ProfsTer93) | c.1831-2A>G | p.His611GlyfsTer3 | Exon 9 / Intron 14 | 1 |
22 | c.1152_1153dupCC | p.(His385ProfsTer93) | c.1152_1153dupCC | p.His385ProfsTer93 | Exon 9 / Exon 9 | 1 |
23 | c.1310-2A>G | p.(?) | c.2248C>T | p.Arg750Trp | Intron 10 / Exon 18 | 2 |
24 | c.1333C>T | p.(His445Tyr) | c.1333C>T | p.(His445Tyr) | Exon 11 / Exon 11 | 2 |
25 | c.1351G>T | p.(Gly451Cys) | c.[1501Â T>A; 2849G>C] 11 | p.([Cys501Ser; Arg950Pro]) | Exon 11 / Exon 12 | 3 |
26A4 | c.1358C>T | p.(Ser453Phe) | c.1358C>T | p.(Ser453Phe) | Exon 11 / Exon 11 | 2 |
26B4 | c.1358C>T | p.(Ser453Phe) | c.1358C>T | p.(Ser453Phe) | Exon 11 / Exon 11 | 2 |
27A5 | c.1370Â T>A | p.(Val457Glu) | c.2248C>T | p.Arg750Trp | Exon 11 / Exon 18 | 3* |
27B5 | c.1370Â T>A | p.(Val457Glu) | c.2248C>T | p.Arg750Trp | Exon 11 / Exon 18 | 3* |
28A6 | c.1383C>A | p.(Tyr461Ter) | c.2402dupG | p.(Ser802GlnfsTer129) | Exon 11 / Exon 20 | 1* |
28B6 | c.1383C>A | p.(Tyr461Ter) | c.2402dupG | p.(Ser802GlnfsTer129) | Exon 11 / Exon 20 | 1* |
29 | c.1388_1389delGC | p.(Arg463ProfsTer53) | c.2426Â T>C | p.Leu809Pro | Exon 11 / Exon 20 | 2* |
30 | c.1527+1G>C | p.(?) | c.1527+1G>C | p.(?) | Intron 12 / Intron 12 | 1* |
31A7 | c.1816delA | p.Thr606ProfsTer18 | c.1830+1G>C | p.Val549_Glu610del | Exon 14 / Intron 14 | 1 |
31B7 | c.1816delA | p.Thr606ProfsTer18 | c.1830+1G>C | p.Val549_Glu610del | Exon 14 / Intron 14 | 1 |
32 | c.1830+1G>A | p.(?) | c.2248C>T | p.Arg750Trp | Intron 14 / Exon 18 | 2 |
33 | c.1830+1G>C | p.Val549_Glu610del | c.1830+1G>C | p.Val549_Glu610del | Intron 14 / Intron 14 | 1 |
34 | c.1830+1G>C | p.Val549_Glu610del | c.2248C>T | p.Arg750Trp | Intron 14 / Exon 18 | 2 |
35 | c.1830+1G>C | p.Val549_Glu610del | c.2426Â T>C | p.Leu809Pro | Intron 14 / Exon 20 | 2 |
36 | c.1830+1G>C | p.Val549_Glu610del | c.2248C>T | p.Arg750Trp | Intron 14 / Exon 18 | 2 |
37A8 | c.1831-2A>G | p.His611GlyfsTer3 | c.1831-2A>G | p.His611GlyfsTer3 | Intron 14 / Intron 14 | 1 |
37B8 | c.1831-2A>G | p.His611GlyfsTer3 | c.1831-2A>G | p.His611GlyfsTer3 | Intron 14 / Intron 14 | 1 |
38 | c.2234C>G | p.(Thr745Arg) | c.2234C>G | p.Thr745Arg | Exon 18 / Exon 18 | 3 |
39A9 | c.2248C>T | p.Arg750Trp | c.2248C>T | p.Arg750Trp | Exon 18 / Exon 18 | 2* |
39B9 | c.2248C>T | p.Arg750Trp | c.2248C>T | p.Arg750Trp | Exon 18 / Exon 18 | 2* |
40 | c.2248C>T | p.Arg750Trp | c.2248C>T | p.Arg750Trp | Exon 18 / Exon 18 | 2* |
41 | c.2248C>T | p.Arg750Trp | c.2248C>T | p.Arg750Trp | Exon 18 / Exon 18 | 2* |
42 | c.2248C>T | p.Arg750Trp | c.2248C>T | p.Arg750Trp | Exon 18 / Exon 18 | 2* |
43 | c.2248C>T | p.Arg750Trp | c.2248C>T | p.Arg750Trp | Exon 18 / Exon 18 | 2* |
44 | c.2248C>T | p.Arg750Trp | c.2299C>T | p.Gln767Ter | Exon 18 / Exon 19 | 2* |
45 | c.2248C>T | p.Arg750Trp | c.2248C>T | p.Arg750Trp | Exon 18 / Exon 18 | 2 |
46 | c.2248C>T | p.Arg750Trp | c.2248C>T | p.Arg750Trp | Exon 18 / Exon 18 | 2* |
47 | c.2248C>T | p.Arg750Trp | c.2426Â T>C | p.Leu809Pro | Exon 18 / Exon 20 | 2* |
48 | c.2248C>T | p.Arg750Trp | c.2248C>T | p.Arg750Trp | Exon 18 / Exon 18 | 2 |
49 | c.2248C>T | p.Arg750Trp | c.2426Â T>C | p.Leu809Pro | Exon 18 / Exon 20 | 2 |
50 | c.2248C>T | p.Arg750Trp | c.2251G>T | p.(Glu751Ter) | Exon 18 / Exon 20 | 2* |
51 | c.2248C>T | p.Arg750Trp | c.2248C>T | p.Arg750Trp | Exon 18 / Exon 18 | 2 |
52 | c.2355G>A | p.Arg757MetfsTer6 | c.2355G>A | p.(Arg757MetfsTer6) | Exon 19 / Exon 19 | 1 |
53 | c.2398G>T | p.(Gly800Trp) | c.2944_2947delCCGT | p.(Pro982ThrfsTer50) | Exon 20 / Exon 24 | 2 |
54 | c.2436+5G>A | p.Glu786_Met812del | c.2887delG | p.(Glu963ArgfsTer70) | Intron 20 / Exon 23 | 1 |
55 | c.2724G>A | p.(Trp908Ter) | c.2724G>A | p.(Trp908Ter) | Exon 22 / Exon 22 | 1 |
56 | c.2920dupA | p.(Thr974AsnfsTer81) | c.2920dupA | p.(Thr974AsnfsTer81) | Exon 23 / Exon 23 | 1* |
57 | c.2921_2922delCA | p.(Thr974ArgfsTer80) | c.2921_2922delCA | p.(Thr974ArgfsTer80) | Exon 23 / Exon 23 | 1 |