| Mutation ID |
28 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000324559 |
| Start |
22250250:22250251(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.898dupA |
| AA Mutation |
p.Ile300AsnfsTer36(p.I300Nfs*36) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
29 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000324559 |
| Start |
22236268:22236269(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.754_755insATTTCTTTCAA |
| AA Mutation |
p.Leu252HisfsTer42(p.L252Hfs*42) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ANO5
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000324559 |
| Start |
22279545:22279545(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2522A>G |
| AA Mutation |
p.His841Arg(p.H841R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324559 |
| Start |
22272879:22272879(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2125G>A |
| AA Mutation |
p.Ala709Thr(p.A709T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324559 |
| Start |
22227342:22227342(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.404C>G |
| AA Mutation |
p.Ala135Gly(p.A135G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324559 |
| Start |
22259704:22259704(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1593C>A |
| AA Mutation |
p.Phe531Leu(p.F531L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324559 |
| Start |
22270400:22270400(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1987A>C |
| AA Mutation |
p.Ser663Arg(p.S663R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000324559 |
| Start |
22221132:22221132(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.216C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000324559 |
| Start |
22255400:22255400(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs566415362
|
| CDS Mutation |
c.1210C>T |
| AA Mutation |
p.Arg404Ter(p.R404*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|