Transcript | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|
ENST00000275493.2 | c.2573T>G | p.Leu858Arg | missense_variant | 21/28 | - |
ENST00000442591.1 | c.*28+18894T>G | - | intron_variant | - | 17/17 |
ENST00000454757.2 | c.2414T>G | p.Leu805Arg | missense_variant | 21/28 | - |
ENST00000455089.1 | c.2438T>G | p.Leu813Arg | missense_variant | 20/26 | - |
NM_001346897.2 | c.2438T>G | p.Leu813Arg | missense_variant | 20/26 | - |
NM_001346898.2 | c.2573T>G | p.Leu858Arg | missense_variant | 21/27 | - |
NM_001346899.1 | c.2438T>G | p.Leu813Arg | missense_variant | 20/27 | - |
NM_001346900.2 | c.2414T>G | p.Leu805Arg | missense_variant | 21/28 | - |
NM_001346941.2 | c.1772T>G | p.Leu591Arg | missense_variant | 15/22 | - |
NM_005228.5 | c.2573T>G | p.Leu858Arg | missense_variant | 21/28 | - |