| Mutation ID |
16 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000520113 |
| Start |
114686864:114686864(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.361C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000520113 |
| Start |
114677933:114677933(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1300G>T |
| AA Mutation |
p.Glu434Ter(p.E434*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> AMPD1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000520113 |
| Start |
114675598:114675598(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1710G>T |
| AA Mutation |
p.Lys570Asn(p.K570N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000520113 |
| Start |
114675985:114675985(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1506G>T |
| AA Mutation |
p.Lys502Asn(p.K502N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000520113 |
| Start |
114673683:114673683(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374697989
|
| CDS Mutation |
c.2140G>A |
| AA Mutation |
p.Glu714Lys(p.E714K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000520113 |
| Start |
114684322:114684322(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369963978
|
| CDS Mutation |
c.523C>T |
| AA Mutation |
p.Arg175Trp(p.R175W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000520113 |
| Start |
114680439:114680439(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149424604
|
| CDS Mutation |
c.686G>A |
| AA Mutation |
p.Arg229Gln(p.R229Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000520113 |
| Start |
114688724:114688724(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369335745
|
| CDS Mutation |
c.151C>T |
| AA Mutation |
p.Arg51Cys(p.R51C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000520113 |
| Start |
114686780:114686792(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.433_445delGTGCCTGATTTTC |
| AA Mutation |
p.Val145ArgfsTer60(p.V145Rfs*60) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000520113 |
| Start |
114673978:114673979(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2003dupT |
| AA Mutation |
p.Leu668PhefsTer16(p.L668Ffs*16) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|