| Mutation ID |
18 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000224949 |
| Start |
3140794:3140794(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2664T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000224949 |
| Start |
3140760:3140760(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767127875
|
| CDS Mutation |
c.2698C>T |
| AA Mutation |
p.Arg900Ter(p.R900*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PITRM1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000224949 |
| Start |
3160307:3160307(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.815C>T |
| AA Mutation |
p.Pro272Leu(p.P272L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000224949 |
| Start |
3147250:3147250(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2236G>A |
| AA Mutation |
p.Val746Met(p.V746M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000224949 |
| Start |
3159911:3159911(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761367964
|
| CDS Mutation |
c.944C>T |
| AA Mutation |
p.Pro315Leu(p.P315L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000224949 |
| Start |
3165429:3165429(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770738350
|
| CDS Mutation |
c.517C>T |
| AA Mutation |
p.Arg173Cys(p.R173C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000224949 |
| Start |
3160317:3160317(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.805G>A |
| AA Mutation |
p.Gly269Ser(p.G269S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000224949 |
| Start |
3165475:3165475(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.471G>C |
| AA Mutation |
p.Gln157His(p.Q157H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000224949 |
| Start |
3159002:3159002(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1048T>C |
| AA Mutation |
p.Ser350Pro(p.S350P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000224949 |
| Start |
3138964:3138964(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373206278
|
| CDS Mutation |
c.2857G>A |
| AA Mutation |
p.Asp953Asn(p.D953N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000224949 |
| Start |
3157511:3157511(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs115840214
|
| CDS Mutation |
c.1271G>A |
| AA Mutation |
p.Arg424Gln(p.R424Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000224949 |
| Start |
3155652:3155652(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1560G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|