| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000513761 |
| Start |
169689202:169689203(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.578_579insTTGGA |
| AA Mutation |
p.Trp193CysfsTer6(p.W193Cfs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
19 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000513761 |
| Start |
169636050:169636058(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.122_130delCTGAAGATG |
| AA Mutation |
p.Ser41_Asp44delinsTyr(p.S41_D44delinsY) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CLCN3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000513761 |
| Start |
169707021:169707021(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763040164
|
| CDS Mutation |
c.1904G>A |
| AA Mutation |
p.Arg635Gln(p.R635Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000513761 |
| Start |
169707056:169707056(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1939G>T |
| AA Mutation |
p.Glu647Ter(p.E647*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000513761 |
| Start |
169713101:169713102(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2173_2177dupGGTAT |
| AA Mutation |
p.Ile726MetfsTer26(p.I726Mfs*26) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|