| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251810 |
| Start |
102224081:102224081(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.515C>T |
| AA Mutation |
p.Ala172Val(p.A172V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000251810 |
| Start |
102218892:102218892(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs515726194
|
| CDS Mutation |
c.606T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RRM2B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251810 |
| Start |
102225012:102225012(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs515726186
|
| CDS Mutation |
c.328C>T |
| AA Mutation |
p.Arg110Cys(p.R110C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000251810 |
| Start |
102232246:102232246(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.107delG |
| AA Mutation |
p.Arg36LysfsTer58(p.R36Kfs*58) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000251810 |
| Start |
102208210:102208210(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs121918310
|
| CDS Mutation |
c.979C>T |
| AA Mutation |
p.Arg327Ter(p.R327*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|