| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251643 |
| Start |
40863304:40863304(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1135G>A |
| AA Mutation |
p.Asp379Asn(p.D379N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251643 |
| Start |
40866701:40866701(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.486A>T |
| AA Mutation |
p.Glu162Asp(p.E162D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000251643 |
| Start |
40866641:40866642(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.542_545dupCACT |
| AA Mutation |
p.Ile183ThrfsTer3(p.I183Tfs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |