| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000381199 |
| Start |
56923924:56923925(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1042_1043insTAATGAAAAAGTTGAATTTTTAAAAAAGATATAACCATCACC |
| AA Mutation |
p.His347_Pro348insLeuMetLysLysLeuAsnPheTerLysArgTyrAsnHisHis(p.H347_P348insLMKKLNF*KRYNHH) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000381199 |
| Start |
56923914:56923914(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1052+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000381199 |
| Start |
56923929:56923934(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1033_1038delAACCAT |
| AA Mutation |
p.Asn345_His346del(p.N345_H346del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MIER3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381199 |
| Start |
56933363:56933363(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.631G>A |
| AA Mutation |
p.Asp211Asn(p.D211N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381199 |
| Start |
56933387:56933387(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs750710029
|
| CDS Mutation |
c.607G>A |
| AA Mutation |
p.Glu203Lys(p.E203K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000381199 |
| Start |
56937583:56937583(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.431T>C |
| AA Mutation |
p.Leu144Ser(p.L144S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|