| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000319217 |
| Start |
13109011:13109011(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5991A>T |
| AA Mutation |
p.Leu1997Phe(p.L1997F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000319217 |
| Start |
13133828:13133828(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4460C>T |
| AA Mutation |
p.Pro1487Leu(p.P1487L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000319217 |
| Start |
13126734:13126734(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776038550
|
| CDS Mutation |
c.4503T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |