| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000411696 |
| Start |
218638578:218638578(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774221961
|
| CDS Mutation |
c.4825C>T |
| AA Mutation |
p.Arg1609Cys(p.R1609C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000411696 |
| Start |
218642048:218642048(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4468G>A |
| AA Mutation |
p.Ala1490Thr(p.A1490T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000411696 |
| Start |
218649106:218649106(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.802C>A |
| AA Mutation |
p.Leu268Ile(p.L268I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |