| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000456315 |
| Start |
68482198:68482198(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1610A>T |
| AA Mutation |
p.Asn537Ile(p.N537I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000456315 |
| Start |
68489548:68489549(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.374dupA |
| AA Mutation |
p.Asn125LysfsTer10(p.N125Kfs*10) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000456315 |
| Start |
68482743:68482744(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs768423262
|
| CDS Mutation |
c.1064dupA |
| AA Mutation |
p.Asn355LysfsTer9(p.N355Kfs*9) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |