| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333756 |
| Start |
34356893:34356893(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2801G>A |
| AA Mutation |
p.Gly934Asp(p.G934D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333756 |
| Start |
34356478:34356478(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2386G>A |
| AA Mutation |
p.Ala796Thr(p.A796T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333756 |
| Start |
34355942:34355942(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs540031927
|
| CDS Mutation |
c.1850C>T |
| AA Mutation |
p.Ser617Leu(p.S617L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |