| Mutation ID |
44 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000397491 |
| Start |
394848:394849(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3022_3023insTGTCATTTACT |
| AA Mutation |
p.Glu1008ValfsTer9(p.E1008Vfs*9) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
45 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000397491 |
| Start |
398225:398225(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3047-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CHL1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397491 |
| Start |
390760:390760(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370425791
|
| CDS Mutation |
c.2482G>A |
| AA Mutation |
p.Val828Ile(p.V828I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397491 |
| Start |
394803:394803(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2977T>G |
| AA Mutation |
p.Leu993Val(p.L993V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397491 |
| Start |
341926:341926(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754718767
|
| CDS Mutation |
c.523G>A |
| AA Mutation |
p.Glu175Lys(p.E175K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397491 |
| Start |
344607:344607(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.698G>T |
| AA Mutation |
p.Arg233Ile(p.R233I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397491 |
| Start |
383868:383868(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2181A>C |
| AA Mutation |
p.Glu727Asp(p.E727D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397491 |
| Start |
405510:405510(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3426G>T |
| AA Mutation |
p.Lys1142Asn(p.K1142N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397491 |
| Start |
361702:361702(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1262T>C |
| AA Mutation |
p.Val421Ala(p.V421A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000397491 |
| Start |
405623:405623(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3539C>A |
| AA Mutation |
p.Ser1180Ter(p.S1180*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000397491 |
| Start |
328339:328339(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.370G>T |
| AA Mutation |
p.Glu124Ter(p.E124*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|