| Mutation ID |
48 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000243326 |
| Start |
151422985:151422986(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.734dupA |
| AA Mutation |
p.Asn245LysfsTer2(p.N245Kfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
49 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000243326 |
| Start |
151463835:151463836(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4322dupA |
| AA Mutation |
p.Glu1442GlyfsTer4(p.E1442Gfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> RIF1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000243326 |
| Start |
151435527:151435527(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756092280
|
| CDS Mutation |
c.1142C>T |
| AA Mutation |
p.Ser381Leu(p.S381L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000243326 |
| Start |
151468003:151468003(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6604C>T |
| AA Mutation |
p.Arg2202Cys(p.R2202C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000243326 |
| Start |
151457924:151457924(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2816T>A |
| AA Mutation |
p.Phe939Tyr(p.F939Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000243326 |
| Start |
151466115:151466115(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.6595A>C |
| AA Mutation |
p.Asn2199His(p.N2199H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000243326 |
| Start |
151464810:151464810(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5290A>G |
| AA Mutation |
p.Lys1764Glu(p.K1764E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000243326 |
| Start |
151464961:151464961(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5441C>T |
| AA Mutation |
p.Ser1814Phe(p.S1814F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000243326 |
| Start |
151463626:151463626(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4106A>C |
| AA Mutation |
p.Glu1369Ala(p.E1369A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000243326 |
| Start |
151422954:151422954(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.698T>C |
| AA Mutation |
p.Leu233Ser(p.L233S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000243326 |
| Start |
151436861:151436861(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1230C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000243326 |
| Start |
151463090:151463090(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3570T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000243326 |
| Start |
151451695:151451695(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2334C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000243326 |
| Start |
151463325:151463325(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3805G>T |
| AA Mutation |
p.Glu1269Ter(p.E1269*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000243326 |
| Start |
151411309:151411309(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.154A>T |
| AA Mutation |
p.Lys52Ter(p.K52*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|