| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000241453 |
| Start |
28028199:28028199(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2032C>A |
| AA Mutation |
p.Leu678Met(p.L678M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000241453 |
| Start |
28035498:28035498(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1594C>T |
| AA Mutation |
p.Pro532Ser(p.P532S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000241453 |
| Start |
28048396:28048396(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747273765
|
| CDS Mutation |
c.1084G>A |
| AA Mutation |
p.Asp362Asn(p.D362N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |