Row | Variant | VarSeak | MaxEntScan | NNSplice | NetGene2 | ASSP | cryp-skip | GENSCAN | # of tools with pathogenic prediction |
---|---|---|---|---|---|---|---|---|---|
1 | c.84-5G>T | No effect | No effect | No effect | No effect | No effect | No effect | No effect | 0:7 |
2 | c.84-3C>G | AASS score ↓ | AASS score ↓ | AASS loss | AASS loss | AASS loss | AASS loss | AASS loss | 7:7 |
3 | c.84-3C>T | No effect | No effect | No effect | AASS loss | AASS score ↓ | No effect | No effect | 1:7 |
4 | c.163+2T>C | ADSS loss | ADSS loss | ADSS loss | ADSS loss | ADSS loss | ADSS loss | ADSS loss | 7:7 |
5 | c.164-36A>G | No effect | No effect | No effect | No effect | No effect | No effect | No effect | 0:7 |
6 | c.164-1G>C | AASS loss | AASS loss | AASS loss | AASS loss | AASS loss | AASS loss | AASS loss | 7:7 |
7 | c.315-1G>A | AASS loss | AASS loss | AASS loss | AASS loss | AASS loss | AASS loss | AASS loss | 7:7 |
Other variants | |||||||||
8–36 | None of the other variants, including c.83+84A>T, c.84-97_84-96del, c.84-7dup, c.84-7del, c.84-6G>T, c.163+14T>C, c.163+92C>T, c.163+136G>T, c.164-97T>C, c.164-92C>G, c.186+122T>C, c.186+132G>T, c.186+166A>G, c.186+169G>C, c.186+184dup, c.187-81A>G, c.187-52G>A, c.243+11G>A, c.243+94T>A, c.243+97C>T, c.243+119G>A, c.243+136A>G, c.243+154C>T, c.312G>A (p.Val104=), c.314+20G>A, c.315-94C>T, c.318G>A (p.Thr106=), c.405T>C (p.Thr135=), c.420G>T (p.Val140=), had an effect on the splicing process |