| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000360905 |
| Start |
1236848:1236849(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2431_2432insATGTA |
| AA Mutation |
p.Leu811TyrfsTer3(p.L811Yfs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000360905 |
| Start |
1289851:1289851(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2620-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ERC1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360905 |
| Start |
1027971:1027971(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.68G>T |
| AA Mutation |
p.Arg23Met(p.R23M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360905 |
| Start |
1083320:1083320(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199966368
|
| CDS Mutation |
c.826C>T |
| AA Mutation |
p.Arg276Trp(p.R276W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360905 |
| Start |
1083514:1083514(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1020G>T |
| AA Mutation |
p.Glu340Asp(p.E340D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360905 |
| Start |
1290002:1290002(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2770C>A |
| AA Mutation |
p.Leu924Met(p.L924M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360905 |
| Start |
1083348:1083348(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.854G>A |
| AA Mutation |
p.Arg285Gln(p.R285Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000360905 |
| Start |
1028393:1028393(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.490G>T |
| AA Mutation |
p.Glu164Ter(p.E164*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|