| Mutation ID |
19 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000252826 |
| Start |
49181419:49181420(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1222_1231dupATTGCCCAGA |
| AA Mutation |
p.Ser411AsnfsTer5(p.S411Nfs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000252826 |
| Start |
49172008:49172008(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1051-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> TRPM4
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252826 |
| Start |
49181441:49181441(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1243C>T |
| AA Mutation |
p.Arg415Trp(p.R415W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252826 |
| Start |
49168676:49168676(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755300832
|
| CDS Mutation |
c.736G>A |
| AA Mutation |
p.Glu246Lys(p.E246K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000252826 |
| Start |
49200640:49200640(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2808C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000252826 |
| Start |
49168290:49168290(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.479delC |
| AA Mutation |
p.Thr160ArgfsTer118(p.T160Rfs*118) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|