| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000247153 |
| Start |
47626904:47626904(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.809C>G |
| AA Mutation |
p.Pro270Arg(p.P270R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000247153 |
| Start |
47624295:47624295(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1390C>A |
| AA Mutation |
p.Pro464Thr(p.P464T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000247153 |
| Start |
47626493:47626493(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.967delG |
| AA Mutation |
p.Glu323SerfsTer10(p.E323Sfs*10) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |