| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274364 |
| Start |
76695541:76695541(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4081G>C |
| AA Mutation |
p.Glu1361Gln(p.E1361Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274364 |
| Start |
76597450:76597450(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.919G>T |
| AA Mutation |
p.Val307Leu(p.V307L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000274364 |
| Start |
76592923:76592923(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.905A>G |
| AA Mutation |
p.Asn302Ser(p.N302S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |