| Mutation | Disease | position in MYL2_genomic.fas | UCSC hg17 position | exon/intron |
|---|---|---|---|---|
| Ala13Thr | HCM | 1521 | 109819684 | 2 |
| Phe18Leu | HCM | 1536 | 109819669 | 2 |
| Glu22Lys | HCM | 1548 | 109819657 | 2 |
| Asn47Lys | HCM | 4938 | 109816267 | 3 |
| Arg58Gln | HCM | 6394 | 109814811 | 4 |
| Pro95Ala | HCM | 7365 | 109813840 | 5 |
| Lys104Glu | HCM | 7392 | 109813813 | 5 |
| IVS5-2A>G | HCM | 7535 | 109813670 | 5 |
| IVS6-1G>C | HCM | 9505 | 109811700 | 6 |
| Asp166Val | HCM | 9600 | 109811605 | 7 |
Last modified: April 24, 2006