| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000433529 |
| Start |
70227759:70227759(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.374C>T |
| AA Mutation |
p.Ala125Val(p.A125V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000433529 |
| Start |
70216936:70216936(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.533G>A |
| AA Mutation |
p.Arg178Lys(p.R178K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000433529 |
| Start |
70227734:70227734(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.398+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |