| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369780 |
| Start |
103585184:103585184(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1298T>A |
| AA Mutation |
p.Leu433His(p.L433H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000369780 |
| Start |
103494423:103494423(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.36C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000369780 |
| Start |
103590327:103590327(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1680C>A |
| AA Mutation |
p.Cys560Ter(p.C560*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |