| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000302475 |
| Start |
113085231:113085231(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765539734
|
| CDS Mutation |
c.908G>A |
| AA Mutation |
p.Arg303His(p.R303H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000302475 |
| Start |
113053774:113053774(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1829G>A |
| AA Mutation |
p.Arg610Lys(p.R610K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000302475 |
| Start |
113053746:113053747(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1856dupT |
| AA Mutation |
p.Met619IlefsTer47(p.M619Ifs*47) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |