| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372692 |
| Start |
128692976:128692976(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.526G>A |
| AA Mutation |
p.Gly176Arg(p.G176R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372692 |
| Start |
128693654:128693654(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs142648600
|
| CDS Mutation |
c.548C>T |
| AA Mutation |
p.Ser183Leu(p.S183L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372692 |
| Start |
128692700:128692700(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.352C>T |
| AA Mutation |
p.His118Tyr(p.H118Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |