| ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000317402 |
| Start |
17781559:17781559(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2347A>G |
| AA Mutation |
p.Met783Val(p.M783V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000317402 |
| Start |
17771251:17771251(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.771delA |
| AA Mutation |
p.Lys257AsnfsTer56(p.K257Nfs*56) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000317402 |
| Start |
17773291:17773293(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1065_1067delGTT |
| AA Mutation |
p.Leu355del(p.L355del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |