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(SPINK1) |

For citations click on nucleotide change |

Last modified: | JAN/01/2018 |

5 prime | c.-28211_*2066del |
1 | Pathogenic | ||

5 prime | c.-15969_*7702del |
3 | Pathogenic | ||

5 prime | c.-14374A>G |
common variant | common variant | Benign | |

5 prime | c.-6136AAAG[44] |
0 | 2 (2 hm) | Likely benign | |

5 prime | c.-5444C>T |
0 | 2 | Uncertain | |

5 prime | c.-4754AC[20] |
0 | 2 | Likely benign | |

5 prime | c.-4754AC[19] |
0 | 2 | Likely benign | |

5 prime | c.-4568G>A |
0 | 2 | Uncertain | |

5 prime | c.-4141G>T |
181 (40 hm) | 17 | Likely pathogenic, linked with p.N34S pathogenic haplotype | |

5 prime | c.-3980A>C |
common variant | common variant | Benign | |

5 prime | c.-2471A>G |
0 | 2 | Uncertain | |

5 prime | c.-2153A>G |
0 | 2 | Uncertain | |

5 prime | c.-2090A>G |
0 | 2 | Uncertain | |

5 prime | c.-807C>T |
common variant | common variant | Benign | |

5 prime | c.-320_c.55+961del |
3 | Pathogenic | ||

5 prime | c.-253T>C |
common variant | common variant | Likely benign | |

5 prime | c.-246A>G |
1 | Uncertain | ||

5 prime | c.-215G>T |
3 | Benign | ||

5 prime | c.-215G>A |
48 (11 hm) | 4 | Benign, linked with pathogenic variant c.194+2T>C | |

5 prime | c.-170G>A |
1 | Benign | ||

5 prime | c.-164G>C |
5 | 14 | Benign | |

5 prime | c.-147A>G |
8 | 1 | Pathogenic | |

5 prime | c.-142T>C |
5 | Pathogenic | ||

5 prime | c.-108G>T |
1 | Pathogenic | ||

5 prime | c.-81C>T |
1 | Uncertain | ||

5 prime | c.-53C>T |
3 | 1 | Likely pathogenic | |

5 prime | c.-52G>T |
1 | Pathogenic | ||

5 prime | c.-41G>A |
10 | 3 | Uncertain | |

5 prime | c.-22C>T |
1 | 4 | Likely benign | |

5 prime | c.-14G>A |
1 | Benign | ||

5 prime | c.-7T>G |
5 | 8 | Benign | |

5 prime | c.-2C>A |
1 | Uncertain | ||

exon 1 | c.2T>G |
p.M1R | 1 | Pathogenic | |

exon 1 | c.2T>C |
p.M1T | 3 | 2 | Pathogenic |

exon 1 | c.14G>A |
p.G5D | 1 | Uncertain | |

exon 1 | c.26T>G |
p.L9R | 1 | Uncertain | |

exon 1 | c.27delC |
p.S10VfsX5 | 14 | 11 | Pathogenic |

exon 1 | c.29G>A |
p.S10N | 1 | Benign | |

exon 1 | c.36G>C |
p.L12F | 23 | 35 | Benign |

exon 1 | c.41T>C |
p.L14P | 2 | Pathogenic | |

exon 1 | c.41T>G |
p.L14R | 5 | 1 | Pathogenic |

exon 1 | c.53C>T |
p.S18F | 1 | Uncertain | |

intron 1 | c.55+1G>A |
1 | Pathogenic | ||

intron 1 | c.56-619T>C |
1 | Benign | ||

intron 1 | c.56-151T>C |
1 | Benign | ||

intron 1 | c.56-62T>C |
1 | Benign | ||

intron 1 | c.56-37T>C |
181 (30 hm) | 19 | Benign, linked with p.N34S pathogenic haplotype | |

exon 2 | c.75C>T |
p.S25= | 1 | 3 | Likely benign |

intron 2 | c.87+1G>A |
1 | Pathogenic | ||

intron 2 | c.87+26T>C |
1 | Benign | ||

intron 2 | c.87+268A>G |
18 (6 hm) | 2 | Benign, linked with p.N34S pathogenic haplotype | |

intron 2 | c.87+363A>G |
1 | Benign | ||

intron 2 | c.87+703delA |
0 | 2 | Likely benign | |

intron 2 | c.87+705G>T |
2 | Benign | ||

intron 2 | c.88-559C>T |
2 | Benign | ||

intron 2 | c.88-352A>G |
common variant | common variant | Benign | |

intron 2 | c.88-23A>T |
4 | 8 | Benign | |

exon 3 | c.93_101del |
p.K31_Y33del | 1 | Likely pathogenic | |

exon 3 | c.98_99insA |
p.Y33X | 1 | Pathogenic | |

exon 3 | c.101A>G |
p.N34S | 1888 (237 hm) | 400 (9 hm) | Likely benign, linked with p.N34S pathogenic haplotype |

exon 3 | c.110A>G |
p.N37S | 3 | Benign | |

exon 3 | c.123G>C |
p.K41N | 1 | 1 | Pathogenic |

exon 3 | c.126A>G |
p.I42M | 1 | Uncertain | |

exon 3 | c.133C>T |
p.P45S | 2 | Uncertain | |

exon 3 | c.137T>A |
p.V46D | 1 | Uncertain | |

exon 3 | c.143G>A |
p.G48E | 1 | 1 | Pathogenic |

exon 3 | c.150T>G |
p.D50E | 1 | Pathogenic | |

exon 3 | c.160T>C |
p.Y54H | 2 | Pathogenic | |

exon 3 | c.163C>T |
p.P55S | 50 (1 hm) | 57 (1 hm) | Benign |

exon 3 | c.174C>T |
p.C58= | 3 | Uncertain | |

exon 3 | c.177delG |
p.V60YfsX35 | 1 | Pathogenic | |

exon 3 | c.190A>G |
p.N64D | 2 | Pathogenic | |

exon 3 | c.193C>T |
p.R65W | 1 | Uncertain | |

exon 3 | c.194G>A |
p.R65Q | 6 (1 hm) | 2 | Pathogenic |

intron 3 | c.194+1G>A |
1 | Pathogenic | ||

intron 3 | c.194+2T>C |
324 (32 hm) | 13 | Pathogenic | |

intron 3 | c.194+13T>G |
1 | Benign | ||

intron 3 | c.194+90A>T |
8 | Benign | ||

intron 3 | c.194+125C>A |
1 | Uncertain | ||

intron 3 | c.194+184T>A |
19 | Benign | ||

intron 3 | c.194+1159C>G |
2 | 2 | Benign | |

intron 3 | c.194+1504A>G |
1 | Benign | ||

intron 3 | c.195-1645G>C |
common variant | common variant | Benign | |

intron 3 | c.195-1570C>A |
common variant | common variant | Benign | |

intron 3 | c.195-1538C>T |
1 | Benign | ||

intron 3 | c.195-1414A>T |
0 | 2 (2 hm) | Uncertain | |

intron 3 | c.195-1399G>A |
1 | Benign | ||

intron 3 | c.195-714delA |
0 | 2 | Likely benign | |

intron 3 | c.195-606G>A |
18 (6 hm) | 2 | Benign, linked with p.N34S pathogenic haplotype | |

intron 3 | c.195-478T>G |
common variant | common variant | Benign | |

intron 3 | c.195-414C>T |
1 | Benign | ||

intron 3 | c.195-323C>T |
common variant | common variant | Benign | |

intron 3 | c.195-73_72delCT |
1 | Benign | ||

intron 3 | c.195-66_-65insTTTT |
105 (14 hm) | 8 | Benign, linked with p.N34S pathogenic haplotype | |

exon 4 | c.198A>C |
p.K66N | 2 | Pathogenic | |

exon 4 | c.199C>T |
p.R67C | 4 | 2 | Pathogenic |

exon 4 | c.200G>A |
p.R67H | 15 | 1 | Pathogenic |

exon 4 | c.203A>G |
p.Q68R | 1 | Protective | |

exon 4 | c.206C>T |
p.T69I | 1 | Pathogenic | |

exon 4 | c.231G>A |
p.G77= | 1 | Uncertain | |

exon 4 | c.236G>T |
p.C79F | 1 | Pathogenic | |

3 prime | c.*14_c.*15ins359 |
1 | Pathogenic | ||

3 prime | c.*32C>T |
117 | 120 | Benign | |

3 prime | c.*34C>T |
4 | 2 | Unknown | |

3 prime | c.*131G>A |
2 | Unknown | ||

3 prime | c.*318A>T |
3 (1 hm) | 2 (2 hm) | Uncertain | |

3 prime | c.*407C>G |
common variant | common variant | Benign | |

3 prime | c.*1191C>T |
0 | 2 (2 hm) | Uncertain | |

3 prime | c.*5424G>A |
common variant | common variant | Benign |