| ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000377199 |
| Start |
28907238:28907238(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.944C>T |
| AA Mutation |
p.Ser315Leu(p.S315L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377199 |
| Start |
28909029:28909029(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.830T>G |
| AA Mutation |
p.Ile277Ser(p.I277S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377199 |
| Start |
28921926:28921926(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149594206
|
| CDS Mutation |
c.482G>A |
| AA Mutation |
p.Arg161Gln(p.R161Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |