| Mutation ID |
24 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000369162 |
| Start |
100540321:100540322(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5616_5617insTAGGTATTAG |
| AA Mutation |
p.Lys1873Ter(p.K1873*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
25 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000369162 |
| Start |
100606949:100606949(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4923+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ASCC3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369162 |
| Start |
100679730:100679730(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2174G>A |
| AA Mutation |
p.Arg725Gln(p.R725Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369162 |
| Start |
100848408:100848408(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752951712
|
| CDS Mutation |
c.541G>A |
| AA Mutation |
p.Glu181Lys(p.E181K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369162 |
| Start |
100864158:100864158(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.147G>T |
| AA Mutation |
p.Lys49Asn(p.K49N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369162 |
| Start |
100766572:100766572(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1730G>A |
| AA Mutation |
p.Arg577Gln(p.R577Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369162 |
| Start |
100767314:100767314(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1427G>T |
| AA Mutation |
p.Arg476Ile(p.R476I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369162 |
| Start |
100800489:100800489(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.938T>A |
| AA Mutation |
p.Ile313Asn(p.I313N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369162 |
| Start |
100848616:100848616(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.333A>C |
| AA Mutation |
p.Glu111Asp(p.E111D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369162 |
| Start |
100848542:100848542(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.407G>A |
| AA Mutation |
p.Arg136Gln(p.R136Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000369162 |
| Start |
100662468:100662468(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2355A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|