The following table provides an overview of currently known point mutations leading to splicing errors.
| Name | Case | Mutation (OldNC) [1] | Mutation (HGVS) [2] | Result | Source |
| JLY | HND | IVS1+1G>A | c.27+1G>A | inclusion of IVS1+1 to 49 in mRNA | (Jinnah et al., 2010; Marcus et al., 1993a) |
| HH | LND | IVS1+1G>A | c.27+1G>A | not reported | new |
| MM, Case 22-18 | HND | IVS1+1G>T | c.27+1G>T | inclusion of IVS1+1 to 49 in mRNA | (Jinnah et al., 2010; Jinnah et al., 2000) |
| LN11B, LR | LND | IVS1+1G>T | c.27+1G>T | inclusion of IVS1+1 to 49 in mRNA | (Jinnah et al., 2000; Jinnah et al., 2006) |
| NS | LND | IVS1+1G>T | c.27+1G>T | inclusion of IVS1+1 To 49 in mRNA | (Yamada et al., 2004) |
| Family 3 | HND | IVS1+5G>A | c.27+5G>A | inclusion of extra sequences in mRNA plus frame shift | (Yamada et al., 2007) |
| LN128, H6214, DC | LND | IVS1+5G>A | c.27+5G>A | splice error | new |
| CS | HRH | IVS1+47C>T | c.27+47C>T | inclusion of extra sequences in mRNA | (Gaigl et al., 2001) |
| NS | LND | IVS1-1G>C | c.28-1G>C | exon 2 excluded | (Yamada et al., 2004) |
| LN5, BN | LND | IVS1-2A>G | c.28-2A>G | exon 2 excluded | (Jinnah et al., 2000) |
| RJK 1760, CB | LND | IVS1-2A>T | c.28-2A>T | exon 2 excluded | (Gibbs et al., 1990) |
| 12/01, Family 28 | LND | IVS2+1G>C | c.134+1G>C | not reported | (Bertelli et al., 2004; de Gemmis et al., 2010) |
| JC | HND | IVS2+1G>A | c.134+1G>A | exon 2 excluded | (Jinnah et al., 2000) |
| TH | LND | IVS2-1G>A | c.135-1G>A | not reported | new |
| LN175 | LND | IVS2-2A>G | c.135-2A>G | exon 3 excluded | new |
| LN35, CO | LND | 209G>T | c.209G>T | exclusion of bases 208-318 | (Jinnah et al., 2000) |
| NS | LND | IVS3+1G>C | c.318+1G>C | exon 3 excluded | (Nguyen et al., 2011) |
| Keio | LND | IVS3+1G>T | c.318+1G>T | exon 3 excluded | (Yamada et al., 1993) |
| LN132, JC | LND | IVS3+1G>T | c.318+1G>T | exon 3 excluded | new |
| NS | LND | IVS3-1G>T | c.319-1G>T | exon 4 excluded | (Yamada et al., 2004) |
| LN66, MD | LND | IVS3-2A>G | c.319-2A>G | exon 4 excluded | (Jinnah et al., 2000) |
| Family 34 | LND | IVS3-2A>G | c.319-2A>G | exon 4 exclusion | (de Gemmis et al., 2010) |
| JR, RR | LND | IVS4+1G>T | c.384+1G>T | exon 4 excluded | (Jinnah et al., 2000) |
| LN204, AJZ | LND | IVS4+1G>T | c.384+1G>T | exon 4 excluded | new |
| LN122, R | LND | IVS4+1G>T | c.384+1G>T | exon 4 excluded | new |
| Case 9, Family 9 | LND | IVS4+1G>A | c.384+1G>A | not reported | (Jinnah et al., 2006) |
| Case 2-2, PB | HND | IVS4-1G>A | c.385-1G>A | not reported | (Jinnah et al., 2010) |
| Family V | LND | IVS4-1G>A | c.385-1G>A | exon 5 excluded | (Jurecka et al., 2008; Popowska et al., 1998) |
| Patient 4 | LND | IVS4-1G>A | c.385-1G>A | exon 5 excluded | (Mak et al., 2000) |
| BP | LND | IVS4-1G>A | c.385-1G>A | exon 5 excluded | new |
| Family 28 | LND | IVS4-2A>C | c.385-2A>C | exon 5 excluded | (O'Neill, 2004) |
| IRdL, Case 13-10 | HND | IVS4-2A>G | c.385-2A>G | exon 5 excluded | (Jinnah et al., 2010; Torres et al., 2010) |
| DB | HND | IVS5+1G>A | c.402+1G>A | aberrant mRNA | (Jinnah et al., 2000) |
| MP | LND | IVS5+1G>A | c.402+1G>A | splice error | new |
| VP | LND | IVS5+5A>G | c.402+5G>A | splice error | new |
| TL | HRH | IVS5+1229A>G | c.402+1229A>G | multiple mRNAs | (Sege-Peterson et al., 1992) |
| Richelieu, LN-M | LND | IVS5-1G>A | c.403-1G>A | exon 6 excluded, 403delG | (Jinnah et al., 2000) |
| NA | LND | IVS5-1G>C | c.403-1G>C | not reported | (Hou, 2006) |
| LN174 | LND | IVS5-1G>C | c.403-1G>C | exon 5 excluded | new |
| NS | LND | IVS5-2A>G | c.403-2A>G | aberrant mRNA | (Yamada et al., 2004) |
| NS | LND | IVS6+1G>A | c.485+1G>A | exon 6 excluded | (Willers et al., 1999) |
| Chermside, RW | LND | IVS6+1G>A | c.485+1G>A | exon 6 excluded | (Gordon et al., 1991) |
| Family 29 | LND | IVS6+1G>A | c.485+1G>A | exon 6 excluded | (de Gemmis et al., 2010) |
| Patient A | LND | IVS6+1G>C | c.485+1G>C | exon 6 excluded | (Mizunuma et al., 2001) |
| Family of 5, Family 30 | LND/HND | IVS6+2T>C | c.485+2T>C | exon 6 excluded | (de Gemmis et al., 2010; Hladnik et al., 2008) |
| 100-00 | HND | IVS6+5G>A | c.485+5G>A | exon 6 excluded | (Corrigan et al., 2011) |
| LN203B, JS; DS | LNV | IVS6+5G>A | c.485+5G>A | exon 6 excluded | new |
| 31-99 | LND | g.36221T>A | c.485+2775T>A | creat functional splice site that combines with a downstream cryptic splice site leading mRNA insertion | (Corrigan et al., 2011) |
| AQ | LND | IVS6-1G>A | c.486-1G>A | splice error | new |
| LN126, BM | LND | IVS6-3C>G | c.486-3C>G | exon 7 excluded | new |
| DL [3] | LND | IVS7+1G>A | c.532+1G>A | exon 7 excluded | (Jinnah et al., 2000) |
| LN158, JCG | LND | IVS7+1G>A | c.532+1G>A | exon 7 excluded | new |
| LN217, TM | LND | IVS7+1G>A | c.532+1G>A | exon 7 excluded | new |
| NS | LND | IVS7+1G>A | c.532+1G>A | exon 7 excluded | (Yamada et al., 2011a; Yamada et al., 2011b) |
| PMK; WBK | LND | IVS7+2G>T | exon 7 excluded | New | |
| NS | HND | IVS7+2T>C | c.532+2T>C | exon 7 excluded, early termination | (Yamada et al., 2004) |
| RJK 1934 | LND | IVS7+5G>A | c.532+5G>A | exon 7 excluded | (Gibbs et al., 1990) |
| LN67, MP | LND | IVS7+5G>A | c.532+5G>A | exon 7 excluded | (Jinnah et al., 2000) |
| LN157, JH, CH | LND | IVS7+5G>A | c.532+5G>A | exon 7 excluded | (Jinnah et al., 2006) |
| NS [4] | LND | IVS7+5G>A | c.532+5G>A | exon 7 excluded | (Kim et al., 2009) |
| LN139B, H8475, H | LND | IVS7+5G>A | c.532+5G>A | exon 7 excluded | new |
| NS | LND | IVS7+5G>T | c.532+5G>T | exon 7 excluded | new |
| NS | LND | IVS7+5G>C | c.532+5G>C | exon 7 excluded | (Willers et al., 1999) |
| 3/00, Family 31 | LND | IVS7-1G>A | c.533-1G>A | exon 8 excluded | (Bertelli et al., 2004; de Gemmis et al., 2010) |
| NS | LND | IVS7-1G>A | c.533-1G>A | exon 8 excluded | (Willers et al., 1999) |
| KD | LND | IVS7-1G>A | c.533-1G>A | splice error | new |
| Sevilla, PP | LND | IVS7-2A>G | c.533-2A>G | exon 8 excluded | (Puig et al., 2001; Torres et al., 2000) |
| Family B | LND | IVS7-9T>A | c.533-9T>A | exon 8 excluded | (Kim et al., 1997) |
| NS | LND | IVS7-9T>A | c.533-9T>A | exon 8 excluded | (Yamada et al., 2004) |
| Patient B | LND | IVS7-9T>G | c.533-9T>G | exon 8 excluded | (Mizunuma et al., 2001) |
| BV | LND | IVS7-13T>G | c.533-13T>G | exon 8 excluded | new |
| NS | LND | 538G>A | c.538G>A | exon 8 excluded (G180D)) | (Yamada et al., 2011a) |
| Case 10, Family 10 | LND | IVS8+1G>A | c.609+1G>A | not reported | (Jinnah et al., 2006) |
| 25-feb | LND | IVS8+1G>A | c.609+1G>A | splice junction | (Corrigan et al., 2011) |
| RJK 888, GM 7092 | LND | IVS8+5G>A | c.609+5G>A | exon 8 excluded | (Gibbs et al., 1990; Gibbs et al., 1989) |
| LN-I, Peru | LND | IVS8+5G>T | c.609+5G>T | exon 8 excluded | (Jinnah et al., 2000) |
| LN29, JR | LND | IVS8+6T>G | c.609+6T>G | exon 8 excluded | (Jinnah et al., 2000) |
| LN172; LN203A (MB;LB) | LND | IVS8+6T>G | c.609+6T>G | exon 8 excluded | new |
| LN33 | LND | IVS8+6T>C | c.609+6T>C | exon 8 excluded | (Jinnah et al., 2000) |
| NS | LND | IVS8+6T>C | c.609+6T>C | exon 8 excluded | (Willers et al., 1999) |
| NS | LND | IVS8-1G>A | c.610-1G>A | 17 bp of exon 9 excluded | (Yamada et al., 2004) |
| 158/01, Family 33 [5] | LND | IVS8-1G>A | c.610-1G>A | not reported | (Bertelli et al., 2004; de Gemmis et al., 2010) |
| LN162, II | LND | IVS8-1G>A | c.610-1G>A | 17 bp of exon 9 excluded | new |
| FG | LND | IVS8-1G>A | c.610-1G>A | splice error | new |
| 17/00, Family 32 | LND | IVS8-1G>C | c.610-1G>C | not reported | (Bertelli et al., 2004; de Gemmis et al., 2010) |
| GD | LND | IVS8-1G>T | c.610-1G>T | splice error | new |
| RJK 906, GM 1899 | LND | IVS8-2A>T | c.610-2A>T | 17 bp of exon 9 excluded | (Gibbs et al., 1990; Gibbs et al., 1989) |
| LN136,KB | LND | IVS8-2A>T | c.610-2A>T | 610-626 bp of exon 9 excluded | new |
| AS | LND | IVS8-2A>G | c.610-2A>G | 17 bp of exon 9 excluded | (Marcus et al., 1993a) |
Notes:
[1] OldNC designates an old nomenclature for mutations. NB: Omitted on small screens and mobile devices to increase readability.
[2] HGVS designates human genome variation society. See website: http://www.hgvs.org.
[3] Previously reported as case 375 (Tarle et al., 1991) with a different result shown in Table 1.
[4] Previous reported as c.532+>A.
[5] Previous reported as IVS9-1G>A (Bertelli et al., 2004) and revised as c.610-1G>A (de Gemmis et al., 2010).