| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000220507 |
| Start |
40873392:40873392(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.377T>G |
| AA Mutation |
p.Leu126Arg(p.L126R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000220507 |
| Start |
40873326:40873326(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.443G>T |
| AA Mutation |
p.Arg148Met(p.R148M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000220507 |
| Start |
40873500:40873500(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.269A>G |
| AA Mutation |
p.Glu90Gly(p.E90G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |