| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000331035 |
| Start |
1365238:1365238(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs767317700
|
| CDS Mutation |
c.865delC |
| AA Mutation |
p.Gln289SerfsTer21(p.Q289Sfs*21) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000331035 |
| Start |
1378667:1378667(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.883C>T |
| AA Mutation |
p.Gln295Ter(p.Q295*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> IL3RA
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000331035 |
| Start |
1341821:1341821(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201799560
|
| CDS Mutation |
c.56C>T |
| AA Mutation |
p.Thr19Met(p.T19M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000331035 |
| Start |
1345402:1345402(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs189735318
|
| CDS Mutation |
c.151G>A |
| AA Mutation |
p.Glu51Lys(p.E51K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000331035 |
| Start |
1365178:1365178(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200665918
|
| CDS Mutation |
c.800C>T |
| AA Mutation |
p.Thr267Met(p.T267M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000331035 |
| Start |
1381041:1381041(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.999A>C |
| AA Mutation |
p.Arg333Ser(p.R333S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000331035 |
| Start |
1352125:1352125(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.324G>T |
| AA Mutation |
p.Glu108Asp(p.E108D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000331035 |
| Start |
1381040:1381040(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.998G>A |
| AA Mutation |
p.Arg333Lys(p.R333K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|