| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000595793 |
| Start |
51056757:51056757(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.664delC |
| AA Mutation |
p.Leu222TrpfsTer52(p.L222Wfs*52) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000595793 |
| Start |
51056719:51056719(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.702G>A |
| AA Mutation |
p.Trp234Ter(p.W234*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000595793 |
| Start |
51056700:51056701(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.720dupG |
| AA Mutation |
p.Gln241AlafsTer3(p.Q241Afs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |