| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000553106 |
| Start |
102851715:102851715(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs62642910
|
| CDS Mutation |
c.884C>G |
| AA Mutation |
p.Ser295Ter(p.S295*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000553106 |
| Start |
102894879:102894880(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.207_208insCTTTCTTCTTA |
| AA Mutation |
p.Ser70LeufsTer7(p.S70Lfs*7) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PAH
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000553106 |
| Start |
102839210:102839210(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1324G>A |
| AA Mutation |
p.Gly442Arg(p.G442R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000553106 |
| Start |
102877514:102877514(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.389G>A |
| AA Mutation |
p.Arg130Lys(p.R130K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000553106 |
| Start |
102866621:102866621(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs547566250
|
| CDS Mutation |
c.484G>T |
| AA Mutation |
p.Ala162Ser(p.A162S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000553106 |
| Start |
102839200:102839200(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1334G>T |
| AA Mutation |
p.Cys445Phe(p.C445F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000553106 |
| Start |
102855264:102855264(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.578C>A |
| AA Mutation |
p.Thr193Asn(p.T193N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000553106 |
| Start |
102894887:102894887(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.200C>G |
| AA Mutation |
p.Ser67Cys(p.S67C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000553106 |
| Start |
102843696:102843696(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1149G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|