| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000328299 |
| Start |
76412204:76412205(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs759271356
|
| CDS Mutation |
c.416dupA |
| AA Mutation |
p.Asn139LysfsTer3(p.N139Kfs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000328299 |
| Start |
76412418:76412418(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.623+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ST6GALNAC3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000328299 |
| Start |
76412171:76412171(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746896290
|
| CDS Mutation |
c.377G>A |
| AA Mutation |
p.Arg126Gln(p.R126Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000328299 |
| Start |
76412191:76412191(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369940675
|
| CDS Mutation |
c.397G>A |
| AA Mutation |
p.Val133Ile(p.V133I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000328299 |
| Start |
76313948:76313948(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.162C>G |
| AA Mutation |
p.Tyr54Ter(p.Y54*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|