Transcript | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|
ENST00000261349.4 | c.1679delinsC | p.Lys560Thr | missense_variant | 8/23 | - |
ENST00000298566.2 | c.*25-22143delinsG | - | intron_variant,NMD_transcript_variant | - | 5/6 |
ENST00000538239.1 | c.1273delinsC | p.Lys425Thr | missense_variant,NMD_transcript_variant | 7/24 | - |
ENST00000543091.1 | c.1679delinsC | p.Lys560Thr | missense_variant | 8/23 | - |
NM_002336.3 | c.1679delinsC | p.Lys560Thr | missense_variant | 8/23 | - |