| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000220244 |
| Start |
80909134:80909134(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200436734
|
| CDS Mutation |
c.1625C>T |
| AA Mutation |
p.Thr542Met(p.T542M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394685 |
| Start |
80948899:80948899(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4061C>A |
| AA Mutation |
p.Pro1354His(p.P1354H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000220244 |
| Start |
80879739:80879739(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368282778
|
| CDS Mutation |
c.265G>A |
| AA Mutation |
p.Asp89Asn(p.D89N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |