Polymorphism summary
| Gene exon/intron . | Position, bp . | Nucleotide change . | Amino acid change . |
|---|---|---|---|
| DIS3 (KIAA1008)NM_014953 | |||
| Exon 5 | c.794G>A | G to A | S265N |
| Intron 5 | IVS + 81T>C | T to C | Noncoding |
| Exon 6 | c.977C>G | C to G | T326R |
| Exon 14 | c.1743A>G | A to G | T581T |
| Intron 16 | IVS16 + 106C > T | C to T | Noncoding |
| Chr13_441 | |||
| Intron 2 | IVS2−18T>C | T to C | Noncoding |
| Exon 3 | c.198G>T | G to T | T66T |
| FLJ22624NM_024808 | |||
| Exon 1 | c.115C>T | C to T | Noncoding |
| Intron 3 | IVS3−69G>A | G to A | Noncoding |
| Intron 3 | IVS3−31A>G | A to G | Noncoding |
| Exon 12 | c.4G>A | G to A | Noncoding |
| KLF5NM_001730 | |||
| Intron 1 | IVS1 + 168C>A | C to A | Noncoding |
| Intron 2 | IVS2 + 56_ + 57dupGT | Duplication GT | Noncoding |
| Intron 2 | IVS2 + 56_ + 57dupGTGT | Duplication GTGT | Noncoding |
| Loc387934 XM_370729 | |||
| Alt Exon 1 | c.294G>A | G to A | A98A |
| Exon 1 | c.438A>G | A to G | A146A |
| Loc440145 XM_495961 | |||
| Exon 3 | c.300A>T | A to T | S100S |
| Loc400145 XM_375031 | |||
| Exon 1 | c.85T>C | T to C | Noncoding |
| Exon 2 | c.156C>T | C to T | H52H |
| Exon 2 | c.245G>A | G to A | R82H |
| Exon 2 | c.403G>A | G to A | G135S |
| DACHINM_080759 | |||
| Exon 1 | c.374C>T | C to T | Noncoding |
| Exon 1 | c.369T>C | T to C | Noncoding |
| Exon 1 | c.308C>T | C to T | Noncoding |
| Exon 1 | c.304C>T | C to T | Noncoding |
| Exon 1 | c.299C>T | C to T | Noncoding |
| Exon 1 | c.298C>A | C to A | Noncoding |
| Exon 1 | c.298C>T | C to T | Noncoding |
| Exon 1 | c.298delC | Deletion C | Noncoding |
| Exon 1 | c.118C>T | C to T | Noncoding |
| Exon 1 | c.293C>T | C to T | Noncoding |
| Exon 1 | c.292C>T | C to T | Noncoding |
| Exon 1 | c.270_−305del36 | Deletion 36 | Noncoding |
| Exon 1 | c.201_−309del109 | Deletion 109 | Noncoding |
| Exon 1 | c.190_−309del120 | Deletion 120 | Noncoding |
| Exon 1 | c242_243dupCGGCGG | Duplication CGGCGG | G81_S82insGG |
| Intron 4 | IVS4 + 14insT | Insertion T | Noncoding |
| TBC1D4NM_014832 | |||
| Exon 1 | c.84C>G | C to G | P28R |
| Exon 1 | c.302C>T | C to T | A101V |
| Exon 1 | c.350T>C | T to C | F117S |
| Exon 1 | c.363C>T | C to T | H121H |
| Intron 1 | IVSI + 8G>A | G to A | Noncoding |
| Intron 1 | IVSI + 18del61 | Deletion 61 | Noncoding |
| Intron 1 | IVSI + 84A>G | A to G | Noncoding |
| Exon 2 | c.606C>T | C to T | F202F |
| Alt intron 1 | Alt IVS1 + 75insG | Ins G | Noncoding |
| Alt intron 4 | Alt IVS4−92T>C | T to C | Noncoding |
| Alt intron 4 | Alt IVS4−107A>G | A to G | Noncoding |
| Exon 7 | c.1611T>G | T to G | S537S |
| Intron 7 | IVS7 + 10insT | Insertion T | Noncoding |
| Intron 9 | IVS9 + 139C>A | C to A | Noncoding |
| Intron 10 | IVS10−59T>G | T to G | Noncoding |
| Intron 13 | IVS13−3C>T | C to T | Noncoding |
| Exon 14 | c.2455A>G | A to G | 1819V |
| Intron 14 | IVS14−60C>T | C to T | Noncoding |
| Intron 15 | IVS15 + 63_ + 64delTT | Deletion TT | Noncoding |
| Exon 16 | c.2904C>T | C to T | L968L |
| Exon 19 | c.3443C>T | C to T | T1148M |
| Exon 20 | c.3620A>G | A to G | N1207S |
| Exon 20 | c.3628C>G | C to G | L1210V |
| Intron 20 | IVS20−19dupT | Duplication T | Noncoding |
| Exon 21 | c.3827C>T | C to T | A1276V |
| Exon 21 | c.980G>A | G to A | Noncoding |
| Exon 21 | c.1599T>C | T to C | Noncoding |
| PIBF1(C13orf24)NM_006346 | |||
| Intron 3 | IVS3 + 19A>T | A to T | Noncoding |
| Intron 3 | IVS3 + 78T>G | T to G | Noncoding |
| Exon 4 | c.499A>G | A to G | 1167V |
| Intron 4 | IVS4 + 61T>C | T to C | Noncoding |
| Intron 8 | IVS8 + 23C>T | C to T | Noncoding |
| Intron 10 | IVS10-68_−71delGTAA | Deletion GTAA | Noncoding |
| Intron 12 | IVS11 + 41delT | Deletion T | Noncoding |
| Exon 15 | c.1888A>G | A to G | 1628V |
| KLF12NM_007249 | |||
| Exon 1 | c.127_−128delTG | Deletion TG | Noncoding |
| Intron 2 | IVS2−3T>C | T to C | Noncoding |
| Exon 4 | c.272C>T | C to T | T91M |
| Exon 6 | c.840C>A | C to A | G280G |
| Loc387937 XM_373569 | |||
| Exon 4 | c.141C>T | C to T | Noncoding |
| Loc400144 XM_378421 | |||
| Exon 1 | c.260C>T | C to T | Noncoding |
| Exon 2 | c.412A>G | A to G | Noncoding |
| Exon 2 | c.535A>G | A to G | Noncoding |
| Exon 2 | c.597A>T | A to T | Noncoding |
| Exon 2 | c.868(TG) 14-20 | TG dinucleotide repeat 14-20 | Noncoding |
| Exon 2 | c.1712A>G | A to G | Noncoding |
| Exon 2 | c.2097C>T | C to T | Noncoding |
| Exon 2 | c.2442T>G | T to G | Noncoding |
| Gene exon/intron . | Position, bp . | Nucleotide change . | Amino acid change . |
|---|---|---|---|
| DIS3 (KIAA1008)NM_014953 | |||
| Exon 5 | c.794G>A | G to A | S265N |
| Intron 5 | IVS + 81T>C | T to C | Noncoding |
| Exon 6 | c.977C>G | C to G | T326R |
| Exon 14 | c.1743A>G | A to G | T581T |
| Intron 16 | IVS16 + 106C > T | C to T | Noncoding |
| Chr13_441 | |||
| Intron 2 | IVS2−18T>C | T to C | Noncoding |
| Exon 3 | c.198G>T | G to T | T66T |
| FLJ22624NM_024808 | |||
| Exon 1 | c.115C>T | C to T | Noncoding |
| Intron 3 | IVS3−69G>A | G to A | Noncoding |
| Intron 3 | IVS3−31A>G | A to G | Noncoding |
| Exon 12 | c.4G>A | G to A | Noncoding |
| KLF5NM_001730 | |||
| Intron 1 | IVS1 + 168C>A | C to A | Noncoding |
| Intron 2 | IVS2 + 56_ + 57dupGT | Duplication GT | Noncoding |
| Intron 2 | IVS2 + 56_ + 57dupGTGT | Duplication GTGT | Noncoding |
| Loc387934 XM_370729 | |||
| Alt Exon 1 | c.294G>A | G to A | A98A |
| Exon 1 | c.438A>G | A to G | A146A |
| Loc440145 XM_495961 | |||
| Exon 3 | c.300A>T | A to T | S100S |
| Loc400145 XM_375031 | |||
| Exon 1 | c.85T>C | T to C | Noncoding |
| Exon 2 | c.156C>T | C to T | H52H |
| Exon 2 | c.245G>A | G to A | R82H |
| Exon 2 | c.403G>A | G to A | G135S |
| DACHINM_080759 | |||
| Exon 1 | c.374C>T | C to T | Noncoding |
| Exon 1 | c.369T>C | T to C | Noncoding |
| Exon 1 | c.308C>T | C to T | Noncoding |
| Exon 1 | c.304C>T | C to T | Noncoding |
| Exon 1 | c.299C>T | C to T | Noncoding |
| Exon 1 | c.298C>A | C to A | Noncoding |
| Exon 1 | c.298C>T | C to T | Noncoding |
| Exon 1 | c.298delC | Deletion C | Noncoding |
| Exon 1 | c.118C>T | C to T | Noncoding |
| Exon 1 | c.293C>T | C to T | Noncoding |
| Exon 1 | c.292C>T | C to T | Noncoding |
| Exon 1 | c.270_−305del36 | Deletion 36 | Noncoding |
| Exon 1 | c.201_−309del109 | Deletion 109 | Noncoding |
| Exon 1 | c.190_−309del120 | Deletion 120 | Noncoding |
| Exon 1 | c242_243dupCGGCGG | Duplication CGGCGG | G81_S82insGG |
| Intron 4 | IVS4 + 14insT | Insertion T | Noncoding |
| TBC1D4NM_014832 | |||
| Exon 1 | c.84C>G | C to G | P28R |
| Exon 1 | c.302C>T | C to T | A101V |
| Exon 1 | c.350T>C | T to C | F117S |
| Exon 1 | c.363C>T | C to T | H121H |
| Intron 1 | IVSI + 8G>A | G to A | Noncoding |
| Intron 1 | IVSI + 18del61 | Deletion 61 | Noncoding |
| Intron 1 | IVSI + 84A>G | A to G | Noncoding |
| Exon 2 | c.606C>T | C to T | F202F |
| Alt intron 1 | Alt IVS1 + 75insG | Ins G | Noncoding |
| Alt intron 4 | Alt IVS4−92T>C | T to C | Noncoding |
| Alt intron 4 | Alt IVS4−107A>G | A to G | Noncoding |
| Exon 7 | c.1611T>G | T to G | S537S |
| Intron 7 | IVS7 + 10insT | Insertion T | Noncoding |
| Intron 9 | IVS9 + 139C>A | C to A | Noncoding |
| Intron 10 | IVS10−59T>G | T to G | Noncoding |
| Intron 13 | IVS13−3C>T | C to T | Noncoding |
| Exon 14 | c.2455A>G | A to G | 1819V |
| Intron 14 | IVS14−60C>T | C to T | Noncoding |
| Intron 15 | IVS15 + 63_ + 64delTT | Deletion TT | Noncoding |
| Exon 16 | c.2904C>T | C to T | L968L |
| Exon 19 | c.3443C>T | C to T | T1148M |
| Exon 20 | c.3620A>G | A to G | N1207S |
| Exon 20 | c.3628C>G | C to G | L1210V |
| Intron 20 | IVS20−19dupT | Duplication T | Noncoding |
| Exon 21 | c.3827C>T | C to T | A1276V |
| Exon 21 | c.980G>A | G to A | Noncoding |
| Exon 21 | c.1599T>C | T to C | Noncoding |
| PIBF1(C13orf24)NM_006346 | |||
| Intron 3 | IVS3 + 19A>T | A to T | Noncoding |
| Intron 3 | IVS3 + 78T>G | T to G | Noncoding |
| Exon 4 | c.499A>G | A to G | 1167V |
| Intron 4 | IVS4 + 61T>C | T to C | Noncoding |
| Intron 8 | IVS8 + 23C>T | C to T | Noncoding |
| Intron 10 | IVS10-68_−71delGTAA | Deletion GTAA | Noncoding |
| Intron 12 | IVS11 + 41delT | Deletion T | Noncoding |
| Exon 15 | c.1888A>G | A to G | 1628V |
| KLF12NM_007249 | |||
| Exon 1 | c.127_−128delTG | Deletion TG | Noncoding |
| Intron 2 | IVS2−3T>C | T to C | Noncoding |
| Exon 4 | c.272C>T | C to T | T91M |
| Exon 6 | c.840C>A | C to A | G280G |
| Loc387937 XM_373569 | |||
| Exon 4 | c.141C>T | C to T | Noncoding |
| Loc400144 XM_378421 | |||
| Exon 1 | c.260C>T | C to T | Noncoding |
| Exon 2 | c.412A>G | A to G | Noncoding |
| Exon 2 | c.535A>G | A to G | Noncoding |
| Exon 2 | c.597A>T | A to T | Noncoding |
| Exon 2 | c.868(TG) 14-20 | TG dinucleotide repeat 14-20 | Noncoding |
| Exon 2 | c.1712A>G | A to G | Noncoding |
| Exon 2 | c.2097C>T | C to T | Noncoding |
| Exon 2 | c.2442T>G | T to G | Noncoding |