| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269571 |
| Start |
39723357:39723357(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1985T>A |
| AA Mutation |
p.Leu662Gln(p.L662Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269571 |
| Start |
39709326:39709326(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.448A>G |
| AA Mutation |
p.Lys150Glu(p.K150E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000269571 |
| Start |
39724735:39724736(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2320_2322dupATG |
| AA Mutation |
p.Met774dup(p.M774dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |