| Mutation ID |
19 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000234701 |
| Start |
86473465:86473465(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200279591
|
| CDS Mutation |
c.211C>T |
| AA Mutation |
p.Arg71Ter(p.R71*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
20 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000234701 |
| Start |
86473481:86473482(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.227_228insCTTGTTATT |
| AA Mutation |
p.Asn76_Val77insLeuLeuPhe(p.N76_V77insLLF) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CLCA1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000234701 |
| Start |
86494383:86494383(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1877T>G |
| AA Mutation |
p.Val626Gly(p.V626G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000234701 |
| Start |
86498596:86498596(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2138G>A |
| AA Mutation |
p.Arg713Lys(p.R713K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000234701 |
| Start |
86498730:86498730(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs570108676
|
| CDS Mutation |
c.2272G>A |
| AA Mutation |
p.Asp758Asn(p.D758N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000234701 |
| Start |
86494297:86494297(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1791G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000234701 |
| Start |
86473524:86473524(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.270C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|