| Mutation ID |
15 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000274008 |
| Start |
123028279:123028279(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763737752
|
| CDS Mutation |
c.1963C>T |
| AA Mutation |
p.Arg655Ter(p.R655*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000274008 |
| Start |
122979257:122979258(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1746dupA |
| AA Mutation |
p.Gln583ThrfsTer3(p.Q583Tfs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SPATA5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274008 |
| Start |
123057250:123057250(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2175C>A |
| AA Mutation |
p.Phe725Leu(p.F725L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000274008 |
| Start |
122927705:122927705(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.235A>C |
| AA Mutation |
p.Asn79His(p.N79H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000274008 |
| Start |
122947386:122947386(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1612C>T |
| AA Mutation |
p.Arg538Ter(p.R538*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|