| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264735 |
| Start |
193263047:193263047(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.532G>A |
| AA Mutation |
p.Asp178Asn(p.D178N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264735 |
| Start |
193270644:193270644(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.761C>A |
| AA Mutation |
p.Ala254Asp(p.A254D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264735 |
| Start |
193263100:193263100(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.590delC |
| AA Mutation |
p.Pro197LeufsTer8(p.P197Lfs*8) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |