| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000394688 |
| Start |
50323650:50323671(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1359_1380delAGATTATCCGTATGTCATGGCA |
| AA Mutation |
p.Asp454IlefsTer7(p.D454Ifs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000394688 |
| Start |
50320362:50320362(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1642G>T |
| AA Mutation |
p.Glu548Ter(p.E548*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000394688 |
| Start |
50323642:50323642(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1388T>A |
| AA Mutation |
p.Leu463Ter(p.L463*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000394688 |
| Start |
50323665:50323665(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1365T>G |
| AA Mutation |
p.Tyr455Ter(p.Y455*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000394688 |
| Start |
50354824:50354825(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.356dupA |
| AA Mutation |
p.Pro120AlafsTer43(p.P120Afs*43) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000394688 |
| Start |
50333698:50333698(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.888-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |