| Mutation ID |
38 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000366542 |
| Start |
243164419:243164420(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3540_3541insTGAA |
| AA Mutation |
p.Ala1181Ter(p.A1181*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
39 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000366542 |
| Start |
243191450:243191451(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.675_676insCAATG |
| AA Mutation |
p.Ala226GlnfsTer31(p.A226Qfs*31) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CEP170
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366542 |
| Start |
243165621:243165621(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770527711
|
| CDS Mutation |
c.2339C>G |
| AA Mutation |
p.Thr780Ser(p.T780S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366542 |
| Start |
243200596:243200596(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.418G>T |
| AA Mutation |
p.Asp140Tyr(p.D140Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366542 |
| Start |
243199072:243199072(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.619G>C |
| AA Mutation |
p.Ala207Pro(p.A207P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366542 |
| Start |
243164757:243164757(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3203T>C |
| AA Mutation |
p.Leu1068Pro(p.L1068P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366542 |
| Start |
243165472:243165472(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2488T>A |
| AA Mutation |
p.Ser830Thr(p.S830T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366542 |
| Start |
243165719:243165719(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2241A>T |
| AA Mutation |
p.Lys747Asn(p.K747N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366542 |
| Start |
243165805:243165805(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2155C>A |
| AA Mutation |
p.Leu719Ile(p.L719I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366542 |
| Start |
243191428:243191428(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.698C>A |
| AA Mutation |
p.Pro233His(p.P233H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366542 |
| Start |
243221809:243221809(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.110G>A |
| AA Mutation |
p.Arg37His(p.R37H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000366542 |
| Start |
243186061:243186061(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1284G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000366542 |
| Start |
243225258:243225258(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.23delT |
| AA Mutation |
p.Leu8TrpfsTer2(p.L8Wfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000366542 |
| Start |
243200629:243200629(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.385G>T |
| AA Mutation |
p.Glu129Ter(p.E129*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|