| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265361 |
| Start |
80744949:80744949(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2201C>T |
| AA Mutation |
p.Ala734Val(p.A734V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000265361 |
| Start |
80748924:80748924(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs557931063
|
| CDS Mutation |
c.1816C>T |
| AA Mutation |
p.Gln606Ter(p.Q606*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000265361 |
| Start |
80828583:80828583(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.264+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |