| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303577 |
| Start |
70088042:70088042(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.299T>A |
| AA Mutation |
p.Leu100Gln(p.L100Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303577 |
| Start |
70088781:70088781(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1038G>T |
| AA Mutation |
p.Arg346Ser(p.R346S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000303577 |
| Start |
70088491:70088491(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs548418658
|
| CDS Mutation |
c.748A>G |
| AA Mutation |
p.Met250Val(p.M250V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |