| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000376285 |
| Start |
100273198:100273198(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs752570929
|
| CDS Mutation |
c.923delT |
| AA Mutation |
p.Leu308TrpfsTer14(p.L308Wfs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000376285 |
| Start |
100257660:100257661(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.703_704insTATGAAC |
| AA Mutation |
p.Asp235ValfsTer2(p.D235Vfs*2) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PCCA
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376285 |
| Start |
100368542:100368542(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1714G>A |
| AA Mutation |
p.Val572Ile(p.V572I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376285 |
| Start |
100257646:100257646(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747943045
|
| CDS Mutation |
c.689G>A |
| AA Mutation |
p.Arg230His(p.R230H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000376285 |
| Start |
100309906:100309906(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761678220
|
| CDS Mutation |
c.1427G>A |
| AA Mutation |
p.Arg476Gln(p.R476Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376285 |
| Start |
100527695:100527695(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2061T>G |
| AA Mutation |
p.Ile687Met(p.I687M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376285 |
| Start |
100425685:100425685(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201702922
|
| CDS Mutation |
c.1799C>T |
| AA Mutation |
p.Ser600Leu(p.S600L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000376285 |
| Start |
100157323:100157323(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.451G>T |
| AA Mutation |
p.Glu151Ter(p.E151*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|