| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361847 |
| Start |
102232590:102232590(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.811G>A |
| AA Mutation |
p.Asp271Asn(p.D271N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361847 |
| Start |
102283554:102283554(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.46T>A |
| AA Mutation |
p.Ser16Thr(p.S16T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361847 |
| Start |
102229323:102229323(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1226G>A |
| AA Mutation |
p.Arg409His(p.R409H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |