| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000349847 |
| Start |
77597578:77597578(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.786A>C |
| AA Mutation |
p.Lys262Asn(p.K262N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000349847 |
| Start |
77572142:77572142(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.498G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000349847 |
| Start |
77617858:77617858(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1567C>T |
| AA Mutation |
p.Gln523Ter(p.Q523*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |