Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
1-55523127-G-C | c.1120G>C | p.Asp374His | Missense | 7/12 | - | 13 |
1-55523128-A-G | c.1121A>G | p.Asp374Gly | Missense | 7/12 | - | 1 |
1-55523130-TG-GC | c.1123_1124delinsGC | p.Cys375Ala | Missense | 7/12 | - | 1 |
1-55523133-AG-GC | c.1126_1127delinsGC | p.Ser376Ala | Missense | 7/12 | - | 1 |
1-55523127-G-A | c.1120G>A | p.Asp374Asn | Missense | 7/12 | - | 3 |
1-55523127-G-T | c.1120G>T | p.Asp374Tyr | Missense | 7/12 | - | 171 |
1-55523133-A-G | c.1126A>G | p.Ser376Gly | Missense | 7/12 | - | 1 |
1-55523128-A-C | c.1121A>C | p.Asp374Ala | Missense | 7/12 | - | 3 |
1-55523136-A-G | c.1129A>G | p.Thr377Ala | Missense | 7/12 | - | 1 |