Location |
Type of mutation |
Nucleotide change |
Amino acid change |
Reference |
Note |
Exon 2 |
frameshift |
c.254_255delGA |
p.R85Tfs*4 |
|
|
Exon 2 |
frameshift |
c.272delG |
p.G91Vfs*26 |
|
|
Exon 2 |
frameshift |
c.279delC |
p.Y93* |
|
|
Exon 2 |
frameshift |
c.290dupA |
p.Asn97Lysfs*43 |
Fam cancer 11, 565-570. |
|
Exon 2 |
frameshift |
c.290delA |
p.N97Tfs*20 |
|
|
Exon 2 |
missense |
c.328G>C |
p.G110R |
|
|
Exon 2 |
frameshift |
c.335delT |
p.F112Sfs*5 |
|
|
Exon 2 |
nonsense |
c.386G>A |
p.W129* |
Hum Genet 122, 459-466. |
|
Exon 2 |
nonsense |
c.387G>A |
p.W129* |
Am J Med Genet A 121A, 65-68. |
|
Exon 3 |
nonsense |
c.403C>T, p.R135X |
p.R135* |
|
2 Patients in one family |
Exon 3 |
nonsense |
c.415G>T |
p.E139* |
|
|
Exon 3 |
frameshift |
c.459delT |
p.F153Lfs*6 |
|
|
Exon 3 |
nonsense |
c.478C>T |
p.Q160* |
|
|
Exon 3 |
frameshift |
c.479_482delAGAC |
p.Q160Pfs*10 |
|
|
Exon 3 |
frameshift |
c.513dupC |
p.T172Hfs*80 |
|
|
Exon 3 |
nonsense |
c.550C>T |
p.Q184* |
|
|
Exon 3 |
splicing |
c.584G>A |
|
Acta Derm Venereol 92, 619-620. J Hum Genet 52, 891-897. Hum Mol Genet
14, 3379-3388. |
|
Exon 3 |
frameshif |
c.684_685insG |
p.I229Dfs*23 |
|
|
Intron 4 |
splicing |
c.654+3A>G |
|
|
|
Exon 5 |
frameshif |
c.684_685insG |
p.I229Dfs*23 |
|
|
Exon 5 |
frameshift |
c.714_715delGG |
p.A239Efs*12 |
|
2 Patients in one family |
Intron 5 |
splicing |
c.747-2A>G |
|
|
|
Exon 6 |
frameshift |
c.749delG |
p.G250Vfs*19 |
|
|
Exon 6 |
frameshif |
c.898delG |
p.A300Pfs*24 |
|
|
Exon 6 |
frameshift |
c.915delC |
p.A306Pfs18* |
Jpn J Cancer Res 90, 1351-1357. Hum Mutat 21, 451-452. |
5 Patients in 2 families |
Exon 6 |
splicing |
c.945+5G>T |
|
Hum Mutat 21, 451-452.Hum Mol Genet 14, 3379-3388. |
|
Exon 7 |
frameshift |
c.964_967delGTTT |
p.V322* |
|
|
Exon 7 |
nonsense |
c.989T>A |
p.L330* |
|
|
Intron 7 |
splicing |
c.1067+1G>C |
|
|
|
Exon 8 |
nonsense |
c.1093C>T |
p.Q365* |
|
|
Exon 8 |
nonsense |
c.1111C>T |
p.Q371* |
Hum. Genome Var. 6:16 |
|
Exon 9 |
frameshift |
c.1221delT |
p.H408Ifs*24 |
|
|
Exon 9 |
frameshift |
c.1223_1226dupATCA |
p.V411Efs*27 |
|
2 Patients in one family |
Exon 9 |
frameshift |
c.1261_1262insT |
p.S421Ffs*16 |
J Hum Genet 52, 891-897. Hum Mutat 21, 451-452. |
|
Exon 9 |
frameshift |
c.1341dupA |
p.L448Tfs*49 |
|
|
Exon 9 |
missense |
c.1346T>G |
p.M449R |
|
|
Intron 9 |
splicing |
c.1348-9T>A |
|
|
|
Exon 10 |
frameshift |
c.1364dupT |
p.T456Nfs*41 |
|
|
Exon 10 |
frameshift |
c.1416_1419dupTGGC |
p.V474Wfs*24 |
Pediatr Neurol 37, 363-365. |
|
Exon 10 |
frameshift |
c.1472delT |
p.I491Tfs*71 |
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 110, e41-46. |
|
Exon 11 |
missense |
c.1526G>A |
p.G509D |
Hum Mutat 21, 451-452. Hum Mol Genet 14, 3379-3388. |
|
Exon 11 |
in-frame |
c.1540_1542delGAT |
p.D514del |
|
|
Exon 12 |
frameshift |
c.1642delG |
p.V548Wfs*17 |
|
|
Exon 12 |
missense |
c.1665T>A |
p.N555K |
|
|
Intron 12 |
splicing |
c.1729-1G>C |
|
|
2 Patients in one family |
Exon 13 |
frameshift |
c.1787dupT |
p.S597Qfs*30 |
|
|
Exon 13 |
nonsense |
c.1804C>T |
p.R602* |
|
3 Patients in one family |
Intron 13 |
splicing |
c.1847+1G>A |
|
|
|
Exon 14 |
frameshift |
c.2011delC |
p.H671Tfs*31 |
Jpn J Cancer Res 90, 1351-1357. Hum Mutat 21, 451-452. |
|
Exon 14 |
frameshift |
c.2197_2198delTC |
p.S733Ifs*4 |
|
3 Patients in 2 families |
Exon 14 |
nonsense |
c.2198C>A |
p.S733* |
|
|
Intron 14 |
splicing |
c.2250+2T>A |
|
|
|
Exon 15 |
nonsense |
c.2308C>T |
p.R770* |
|
3 Patients in 2 families |
Exon 15 |
nonsense |
c.2446C>T |
p.Q816* |
|
|
Exon 15 |
frameshift |
c.2477delT |
p.F826Sfs*4 |
|
2 Patients in one family |
Exon 15 |
frameshift |
c.2497delA |
p.M833Cfs*70 |
|
|
Exon 15 |
frameshift |
c.2544delC |
p.F848Lfs*55 |
|
|
Exon 15 |
frameshift |
c.2549dupA |
p.D850Efs*11 |
Neurol Clin Neurosci 1. 88-89 |
|
Exon 16 |
frameshift |
c.2572_2579delinsTTCC |
p.A858Ffs*44 |
|
|
Exon 16 |
frameshift |
c.2613delC |
p.N871Kfs*32 |
|
|
Exon 16 |
frameshift |
c.2668delA |
p.T890Pfs*13 |
|
2 Patients in one family |
Exon 16 |
missense |
c.2692G>A |
p.D898N |
|
|
Exon 17 |
frameshift |
c.2724_2725insT |
p.D909* |
|
|
Exon 18 |
frameshift |
c.3077delA |
p.H1026Pfs*23 |
|
|
Exon 18 |
frameshift |
c.3130_3131dupGC |
p.V1045Lfs*5 |
|
2 Patients in one family |
Intron 18 |
splicing |
c.3168+5G>C |
c.R995_V1057del |
|
2 Patients in one family |
Exon 19 |
frameshift |
c.3203_3204insT |
p.G1069Rfs*105 |
|
|
Exon 19 |
frameshift |
c.3209_3217delTGATGGGCCinsA |
p.M1070Nfs*72 |
|
|
Exon 19 |
frameshift |
c.3218_3240del23 |
p.L1073Rfs*64 |
|
|
Exon 19 |
in-frame |
c.3243_3245dupGCC |
p.P1082dup |
|
|
Exon 19 |
frameshift |
c.3246delC |
p.V1083Wfs*4 |
|
|
Exon 19 |
missense |
c.3257T>G |
p.L1086R |
|
|
Exon 20 |
frameshift |
c.3325_3328dupGGCG |
p.D1110Gfs*45 |
|
|
Exon 20 |
frameshift |
c.3364_3365delAT |
p.M1122Vfs*31 |
|
|
Exon 20 |
missense |
c.3394T>C |
p.S1132P |
|
|
Intron 20 |
splicing |
c.3449+1G>A |
|
|
|
Exon 21 |
frameshift |
c.3484delC |
p.L1162Sfs*29 |
|
3 Patients in one family |
Exon 21 |
frameshift |
c.3527_3528delCT |
p.S1176Ffs*7 |
|
|
Exon 1-23 |
Large deletion |
g.90617332_101647101del11029770insGACAGAA |
|
Clin Genet 79, 196-198. Hum Genet 122, 459-466. |
|
Exon 1-23 |
Large deletion |
g.94898311_100101915del5203605 |
|
Clin Genet 79, 196-198. Hum Genet 122, 459-466. |
|
Exon 1-23 |
Large deletion |
g.95880121_98238462del2358342 |
|
Clin Genet 79, 196-198. |
|
Exon 1-23 |
Large deletion |
g.96766985_97885391del1118407 |
|
Clin Genet 79, 196-198. |
2 Patients in one family |
Exon 1-23 |
Large deletion |
g.96521545_97592233del1070689 |
|
|
|
Exon 1-23 |
Large deletion |
g.97017231_97914172del896942 |
|
|
2 Patients in one family |
Exon 1-23 |
Large deletion |
g.97187146_97350058del162913 |
|
Clin Genet 79, 196-198. Hum Genet 122, 459-466. |
2 Patients in one family |
Exon 1-23 |
Large deletion |
g.95946863_99986314del4039452 |
|
|
2 Patients in one family |
Exon 11-17 |
Large duplication |
g97260914_97279684dup18771 |
|
Am J Med Genet A 158A, 1724-1728. |
|
Exon4 |
nonsense |
c.550C>T (SUFU) |
p.Q184* (SUFU) |
Fam Cancer 11, 565-570, Hum Genet 122, 459-466. |
|
Exon 9 |
frameshift |
c.1172-1173delCT(PTCH2) |
p.S391*(PTCH2) |
Fam Cancer 12, 611-614, |
|