ENST00000302118.5 |
c.658G>A |
p.Ala220Thr |
missense_variant,splice_region_variant |
5/12 |
- |
ENST00000452118.2 |
c.*302G>A |
- |
splice_region_variant,3_prime_UTR_variant |
6/6 |
- |
ENST00000490692.1 |
n.1479G>A |
- |
splice_region_variant,non_coding_transcript_exon_variant |
2/8 |
- |
ENST00000543384.1 |
c.58G>A |
p.Ala20Thr |
missense_variant,splice_region_variant |
3/10 |
- |
NM_174936.4 |
c.658G>A |
p.Ala220Thr |
missense_variant,splice_region_variant |
5/12 |
- |
NR_110451.1 |
n.317G>A |
- |
splice_region_variant,non_coding_transcript_exon_variant |
3/10 |
- |