| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358196 |
| Start |
170818661:170818661(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.70C>A |
| AA Mutation |
p.Leu24Met(p.L24M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358196 |
| Start |
170845556:170845556(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.802T>C |
| AA Mutation |
p.Phe268Leu(p.F268L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000358196 |
| Start |
170829540:170829540(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.211C>T |
| AA Mutation |
p.Gln71Ter(p.Q71*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |