| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000371998 |
| Start |
47633529:47633530(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.858dupA |
| AA Mutation |
p.Ser287IlefsTer8(p.S287Ifs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000371998 |
| Start |
47651070:47651071(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs761922431
|
| CDS Mutation |
c.3759_3761dupGCA |
| AA Mutation |
p.Gln1276dup(p.Q1276dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NCOA3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371998 |
| Start |
47639056:47639056(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs371932445
|
| CDS Mutation |
c.2561G>A |
| AA Mutation |
p.Arg854Gln(p.R854Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371998 |
| Start |
47635946:47635946(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1560C>A |
| AA Mutation |
p.Ser520Arg(p.S520R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371998 |
| Start |
47624048:47624048(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.221A>C |
| AA Mutation |
p.Glu74Ala(p.E74A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371998 |
| Start |
47627137:47627137(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.493G>T |
| AA Mutation |
p.Asp165Tyr(p.D165Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371998 |
| Start |
47627653:47627653(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.625G>A |
| AA Mutation |
p.Glu209Lys(p.E209K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371998 |
| Start |
47633529:47633529(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.857G>A |
| AA Mutation |
p.Arg286Lys(p.R286K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371998 |
| Start |
47652542:47652542(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4083A>C |
| AA Mutation |
p.Glu1361Asp(p.E1361D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000371998 |
| Start |
47649095:47649095(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3637C>T |
| AA Mutation |
p.Gln1213Ter(p.Q1213*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000371998 |
| Start |
47627969:47627969(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.769G>T |
| AA Mutation |
p.Glu257Ter(p.E257*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000371998 |
| Start |
47647190:47647190(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3370G>T |
| AA Mutation |
p.Gly1124Ter(p.G1124*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|