| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366955 |
| Start |
214645132:214645132(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5562G>T |
| AA Mutation |
p.Gln1854His(p.Q1854H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366955 |
| Start |
214646283:214646283(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6713G>A |
| AA Mutation |
p.Ser2238Asn(p.S2238N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000366955 |
| Start |
214642107:214642107(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3769G>T |
| AA Mutation |
p.Glu1257Ter(p.E1257*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |