| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380450 |
| Start |
7631927:7631927(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.764G>C |
| AA Mutation |
p.Gly255Ala(p.G255A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380450 |
| Start |
7631297:7631297(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757387252
|
| CDS Mutation |
c.491G>A |
| AA Mutation |
p.Arg164His(p.R164H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380450 |
| Start |
7630250:7630250(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.78G>T |
| AA Mutation |
p.Gln26His(p.Q26H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |