| Mutation ID |
20 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000205557 |
| Start |
16178875:16178875(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2338delC |
| AA Mutation |
p.Leu780TrpfsTer31(p.L780Wfs*31) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
21 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000205557 |
| Start |
16163009:16163009(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs72653744
|
| CDS Mutation |
c.3490C>T |
| AA Mutation |
p.Arg1164Ter(p.R1164*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ABCC6
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000205557 |
| Start |
16169726:16169726(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768619900
|
| CDS Mutation |
c.2915C>T |
| AA Mutation |
p.Ala972Val(p.A972V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000205557 |
| Start |
16154973:16154973(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs63751086
|
| CDS Mutation |
c.3941G>A |
| AA Mutation |
p.Arg1314Gln(p.R1314Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000205557 |
| Start |
16208831:16208831(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.691C>G |
| AA Mutation |
p.Leu231Val(p.L231V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000205557 |
| Start |
16182913:16182913(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1961C>A |
| AA Mutation |
p.Pro654His(p.P654H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000205557 |
| Start |
16154958:16154958(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3956C>T |
| AA Mutation |
p.Ala1319Val(p.A1319V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000205557 |
| Start |
16198109:16198109(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1250T>C |
| AA Mutation |
p.Val417Ala(p.V417A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000205557 |
| Start |
16212239:16212239(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.608G>T |
| AA Mutation |
p.Cys203Phe(p.C203F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|