| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000328221 |
| Start |
314932:314932(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.197G>A |
| AA Mutation |
p.Arg66Lys(p.R66K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000328221 |
| Start |
314946:314946(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.211G>A |
| AA Mutation |
p.Asp71Asn(p.D71N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000328221 |
| Start |
314210:314210(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.45delC |
| AA Mutation |
p.Ser16AlafsTer9(p.S16Afs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |