| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372232 |
| Start |
108137945:108137945(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768783011
|
| CDS Mutation |
c.689G>A |
| AA Mutation |
p.Arg230His(p.R230H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372232 |
| Start |
108153688:108153688(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1173A>C |
| AA Mutation |
p.Glu391Asp(p.E391D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372232 |
| Start |
108131305:108131305(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.239G>A |
| AA Mutation |
p.Arg80His(p.R80H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |