| Mutation ID |
28 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000379416 |
| Start |
31365528:31365528(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748879270
|
| CDS Mutation |
c.2473C>T |
| AA Mutation |
p.Arg825Ter(p.R825*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
29 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000379416 |
| Start |
31383107:31383108(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.931dupA |
| AA Mutation |
p.Thr311AsnfsTer8(p.T311Nfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> XDH
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379416 |
| Start |
31397673:31397673(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.490G>A |
| AA Mutation |
p.Ala164Thr(p.A164T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379416 |
| Start |
31386524:31386524(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs745346331
|
| CDS Mutation |
c.683G>A |
| AA Mutation |
p.Arg228Gln(p.R228Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000379416 |
| Start |
31368646:31368646(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1995G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|