| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375708 |
| Start |
91723937:91723937(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2557C>A |
| AA Mutation |
p.Pro853Thr(p.P853T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375708 |
| Start |
91737419:91737419(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.594G>A |
| AA Mutation |
p.Met198Ile(p.M198I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000375708 |
| Start |
91726744:91726744(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1184-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |