| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317151 |
| Start |
219632973:219632973(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1241G>A |
| AA Mutation |
p.Arg414Lys(p.R414K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317151 |
| Start |
219639487:219639487(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3029T>G |
| AA Mutation |
p.Ile1010Ser(p.I1010S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000317151 |
| Start |
219632060:219632061(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.909dupC |
| AA Mutation |
p.Ile304HisfsTer17(p.I304Hfs*17) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |