| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316851 |
| Start |
113231727:113231727(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1172G>C |
| AA Mutation |
p.Gly391Ala(p.G391A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000316851 |
| Start |
113233156:113233156(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1532C>A |
| AA Mutation |
p.Ser511Tyr(p.S511Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000316851 |
| Start |
113233150:113233150(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1530delC |
| AA Mutation |
p.Ser511LeufsTer66(p.S511Lfs*66) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |