| Mutation ID |
31 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000271751 |
| Start |
210684018:210684018(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2233C>T |
| AA Mutation |
p.Arg745Ter(p.R745*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
32 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000271751 |
| Start |
210684084:210684084(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777413393
|
| CDS Mutation |
c.2167C>T |
| AA Mutation |
p.Arg723Ter(p.R723*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KCNH1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000271751 |
| Start |
210684083:210684083(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370853872
|
| CDS Mutation |
c.2168G>A |
| AA Mutation |
p.Arg723Gln(p.R723Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000271751 |
| Start |
210775484:210775484(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1976C>A |
| AA Mutation |
p.Ala659Asp(p.A659D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000271751 |
| Start |
210683615:210683615(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2636C>T |
| AA Mutation |
p.Ser879Leu(p.S879L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000271751 |
| Start |
210804133:210804133(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1496C>T |
| AA Mutation |
p.Thr499Met(p.T499M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000271751 |
| Start |
210683544:210683544(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2707C>T |
| AA Mutation |
p.Arg903Trp(p.R903W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000271751 |
| Start |
211107327:211107327(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.130T>C |
| AA Mutation |
p.Tyr44His(p.Y44H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000271751 |
| Start |
210683827:210683827(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2424G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000271751 |
| Start |
210683512:210683512(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776900309
|
| CDS Mutation |
c.2739G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000271751 |
| Start |
210683863:210683863(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138875472
|
| CDS Mutation |
c.2388G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000271751 |
| Start |
210684018:210684018(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2233C>T |
| AA Mutation |
p.Arg745Ter(p.R745*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000271751 |
| Start |
210919985:210919985(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1117G>T |
| AA Mutation |
p.Glu373Ter(p.E373*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|