| ID |
4 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000312053 |
| Start |
6928147:6928147(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2225G>A |
| AA Mutation |
p.Cys742Tyr(p.C742Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312053 |
| Start |
6924840:6924840(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1954T>C |
| AA Mutation |
p.Phe652Leu(p.F652L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312053 |
| Start |
6896536:6896536(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.233G>A |
| AA Mutation |
p.Cys78Tyr(p.C78Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |