| Mutation ID |
16 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000394634 |
| Start |
109746228:109746228(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1423G>T |
| AA Mutation |
p.Glu475Ter(p.E475*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000394634 |
| Start |
109740998:109740999(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1646dupA |
| AA Mutation |
p.Asn549LysfsTer19(p.N549Kfs*19) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CFI
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394634 |
| Start |
109749527:109749527(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773085612
|
| CDS Mutation |
c.1016G>A |
| AA Mutation |
p.Arg339Gln(p.R339Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394634 |
| Start |
109749509:109749509(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746566803
|
| CDS Mutation |
c.1034G>A |
| AA Mutation |
p.Arg345Gln(p.R345Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000394634 |
| Start |
109761548:109761548(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.627C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000394634 |
| Start |
109749570:109749570(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.973C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000394634 |
| Start |
109766771:109766771(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.111delA |
| AA Mutation |
p.Lys37AsnfsTer65(p.K37Nfs*65) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_lost |
| Transcription ID |
ENST00000394634 |
| Start |
109740893:109740893(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1752A>C |
| AA Mutation |
p.Ter584TyrextTer24(p.*584Yext*24) |
| Mutation Classification |
Nonstop_Mutation |
| Feature Type |
Transcript |
|