Transcript | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|
ENST00000252444.5 | c.1273_1274delinsTG | p.Cys425Leu | missense_variant | 7/18 | - |
ENST00000455727.2 | c.515_516delinsTG | p.Cys172Leu | missense_variant | 5/16 | - |
ENST00000535915.1 | c.896_897delinsTG | p.Cys299Leu | missense_variant | 6/17 | - |
ENST00000545707.1 | c.638_639delinsTG | p.Cys213Leu | missense_variant | 6/16 | - |
ENST00000557933.1 | c.1019_1020delinsTG | p.Cys340Leu | missense_variant | 7/18 | - |
ENST00000558013.1 | c.1019_1020delinsTG | p.Cys340Leu | missense_variant | 7/18 | - |
ENST00000558518.1 | c.1019_1020delinsTG | p.Cys340Leu | missense_variant | 7/18 | - |
ENST00000560173.1 | n.18_19delinsTG | - | non_coding_transcript_exon_variant | 1/3 | - |
ENST00000560467.1 | c.541-784_541-783delinsTG | - | intron_variant | - | 3/5 |
NM_000527.5 | c.1019_1020delinsTG | p.Cys340Leu | missense_variant | 7/18 | - |
NM_001195798.2 | c.1019_1020delinsTG | p.Cys340Leu | missense_variant | 7/18 | - |
NM_001195799.2 | c.896_897delinsTG | p.Cys299Leu | missense_variant | 6/17 | - |
NM_001195800.2 | c.515_516delinsTG | p.Cys172Leu | missense_variant | 5/16 | - |
NM_001195803.2 | c.638_639delinsTG | p.Cys213Leu | missense_variant | 6/16 | - |