| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000205557 |
| Start |
16154929:16154929(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3985C>G |
| AA Mutation |
p.Pro1329Ala(p.P1329A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000205557 |
| Start |
16157749:16157749(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771770753
|
| CDS Mutation |
c.3796G>A |
| AA Mutation |
p.Glu1266Lys(p.E1266K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000205557 |
| Start |
16190210:16190211(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1587_1588dupCC |
| AA Mutation |
p.Leu530ProfsTer34(p.L530Pfs*34) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |