| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000309739 |
| Start |
48865736:48865736(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.32T>C |
| AA Mutation |
p.Val11Ala(p.V11A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000309739 |
| Start |
48864794:48864795(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.196_197delTG |
| AA Mutation |
p.Trp66GlyfsTer10(p.W66Gfs*10) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000309739 |
| Start |
48865745:48865746(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.22dupC |
| AA Mutation |
p.Gln8ProfsTer8(p.Q8Pfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |