| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396478 |
| Start |
45741233:45741233(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.392A>C |
| AA Mutation |
p.Lys131Thr(p.K131T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000396478 |
| Start |
45741172:45741172(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766332431
|
| CDS Mutation |
c.453C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> IPP
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396478 |
| Start |
45741071:45741071(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.554A>T |
| AA Mutation |
p.Lys185Ile(p.K185I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396478 |
| Start |
45714459:45714459(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1317T>G |
| AA Mutation |
p.Ile439Met(p.I439M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396478 |
| Start |
45727681:45727681(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763899567
|
| CDS Mutation |
c.998G>A |
| AA Mutation |
p.Arg333Gln(p.R333Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396478 |
| Start |
45740994:45740994(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.631G>T |
| AA Mutation |
p.Asp211Tyr(p.D211Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396478 |
| Start |
45746171:45746171(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.241C>A |
| AA Mutation |
p.Leu81Ile(p.L81I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396478 |
| Start |
45714418:45714418(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771998580
|
| CDS Mutation |
c.1358G>A |
| AA Mutation |
p.Arg453His(p.R453H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000396478 |
| Start |
45740946:45740946(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.679C>T |
| AA Mutation |
p.Arg227Ter(p.R227*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|