| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359479 |
| Start |
155842538:155842538(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.857T>C |
| AA Mutation |
p.Val286Ala(p.V286A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000359479 |
| Start |
155842607:155842607(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.788delT |
| AA Mutation |
p.Phe263SerfsTer7(p.F263Sfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000359479 |
| Start |
155853689:155853690(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.308dupA |
| AA Mutation |
p.Asn103LysfsTer3(p.N103Kfs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |