| ID |
1 |
| Mutation Consequence |
missense_variant;NMD_transcript_variant |
| Transcription ID |
ENST00000415374 |
| Start |
55640635:55640635(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2140C>A |
| AA Mutation |
p.Gln714Lys(p.Q714K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant;NMD_transcript_variant |
| Transcription ID |
ENST00000415374 |
| Start |
55644683:55644683(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1860T>A |
| AA Mutation |
p.Phe620Leu(p.F620L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant;NMD_transcript_variant |
| Transcription ID |
ENST00000415374 |
| Start |
55647367:55647367(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766817661
|
| CDS Mutation |
c.1582C>T |
| AA Mutation |
p.Arg528Cys(p.R528C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |