| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000361354 |
| Start |
182953311:182953312(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2173_2174insAATACTCT |
| AA Mutation |
p.Met725LysfsTer19(p.M725Kfs*19) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000361354 |
| Start |
182956530:182956532(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2083_2085delATG |
| AA Mutation |
p.Met695del(p.M695del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NCKAP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361354 |
| Start |
183023910:183023910(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.115G>A |
| AA Mutation |
p.Gly39Arg(p.G39R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361354 |
| Start |
183002193:183002193(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.446G>A |
| AA Mutation |
p.Arg149Gln(p.R149Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361354 |
| Start |
183002246:183002246(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.393G>T |
| AA Mutation |
p.Lys131Asn(p.K131N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000361354 |
| Start |
183001992:183001992(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749683028
|
| CDS Mutation |
c.564T>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000361354 |
| Start |
182962209:182962209(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1831C>T |
| AA Mutation |
p.Arg611Ter(p.R611*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|