| ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000301244 |
| Start |
38290280:38290280(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs781030322
|
| CDS Mutation |
c.553C>T |
| AA Mutation |
p.Arg185Cys(p.R185C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301244 |
| Start |
38289173:38289173(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749590138
|
| CDS Mutation |
c.373G>A |
| AA Mutation |
p.Asp125Asn(p.D125N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301244 |
| Start |
38291920:38291920(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs576047179
|
| CDS Mutation |
c.673C>T |
| AA Mutation |
p.Arg225Trp(p.R225W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |