| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349533 |
| Start |
65636849:65636849(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs538482870
|
| CDS Mutation |
c.3332C>T |
| AA Mutation |
p.Thr1111Met(p.T1111M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349533 |
| Start |
65616219:65616219(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2207G>T |
| AA Mutation |
p.Ser736Ile(p.S736I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349533 |
| Start |
65636813:65636813(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3296G>A |
| AA Mutation |
p.Arg1099Lys(p.R1099K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |