| Mutation ID |
17 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000262013 |
| Start |
51001734:51001734(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1588C>T |
| AA Mutation |
p.Arg530Ter(p.R530*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262013 |
| Start |
51005237:51005238(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1450dupA |
| AA Mutation |
p.Arg484LysfsTer7(p.R484Kfs*7) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SPAG9
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262013 |
| Start |
50970719:50970719(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778025223
|
| CDS Mutation |
c.3838G>A |
| AA Mutation |
p.Asp1280Asn(p.D1280N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262013 |
| Start |
50982628:50982628(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747068943
|
| CDS Mutation |
c.3133C>T |
| AA Mutation |
p.Arg1045Trp(p.R1045W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262013 |
| Start |
50993853:50993853(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2309T>G |
| AA Mutation |
p.Val770Gly(p.V770G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262013 |
| Start |
51005259:51005259(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772023935
|
| CDS Mutation |
c.1429C>T |
| AA Mutation |
p.Arg477Trp(p.R477W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262013 |
| Start |
51014303:51014303(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1142C>T |
| AA Mutation |
p.Ser381Phe(p.S381F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262013 |
| Start |
50989736:50989736(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2754C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000262013 |
| Start |
51001734:51001734(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1588C>T |
| AA Mutation |
p.Arg530Ter(p.R530*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|