| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374519 |
| Start |
70258990:70258990(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.635C>T |
| AA Mutation |
p.Pro212Leu(p.P212L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374519 |
| Start |
70259182:70259182(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.443G>A |
| AA Mutation |
p.Arg148His(p.R148H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000374519 |
| Start |
70258878:70258878(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.747G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |