| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000285238 |
| Start |
50659362:50659362(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.800C>A |
| AA Mutation |
p.Thr267Lys(p.T267K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000285238 |
| Start |
50669407:50669407(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2120A>G |
| AA Mutation |
p.Glu707Gly(p.E707G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000285238 |
| Start |
50667883:50667884(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1666_1671dupTACGTG |
| AA Mutation |
p.Tyr556_Val557dup(p.Y556_V557dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |