| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216420 |
| Start |
54538163:54538163(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.779C>G |
| AA Mutation |
p.Ser260Cys(p.S260C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000216420 |
| Start |
54509970:54509970(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.11T>C |
| AA Mutation |
p.Val4Ala(p.V4A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000216420 |
| Start |
54538115:54538115(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.731C>A |
| AA Mutation |
p.Ser244Ter(p.S244*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |