Table 1.
OMIM and Accession numbers
| Homo Sapiens | ||||||
|---|---|---|---|---|---|---|
| Gene | OMIM# | Genomic RefSeq | NM_# | v.* |
Entrez Gene ID |
UniProt ID |
| DMD | 300377 | NC_000023 | 004006 | .2 | 1756 | P11532 |
| CAV3 | 601253 | NG_008797 | 033337 | .1 | 859 | P56539 |
| CAPN3 | 114240 | NG_008660 | 000070 | .2 | 825 | P20807 |
| TRIM32 | 602290 | NG_011619 | 012210 | .3 | 22954 | Q13049 |
| FKRP | 606596 | NG_008898 | 024301 | .4 | 79147 | Q9H9S5 |
| LMNA | 150330 | NG_008692 | 170707 | .2 | 4000 | P02545 |
| SGCA | 600119 | NG_008889 | 000023 | .2 | 6442 | Q16586 |
| SGCB | 600900 | NG_008891 | 000232 | .4 | 6443 | Q16585 |
| SGCG | 608896 | NG_008758 | 000231 | .2 | 6445 | Q13326 |
| SGCD | 601411 | NG_008693 | 000337 | .5 | 6444 | Q92629 |
OMIM = Online Mendelian Inheritance in Man, NM_# are the RefSeq numbers for the most common muscle isoform mRNA.* version is the latest NM_# version at time of publication and also the version used for CDS nucleotide numbering in Table 7 HGVS variation nomenclature