| Mutation ID |
24 |
| Mutation Consequence |
stop_gained;inframe_insertion |
| Transcription ID |
ENST00000355305 |
| Start |
172033181:172033182(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.765_766insTAAGAA |
| AA Mutation |
p.Glu255_Arg256insTer(p.E255_R256ins*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
25 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000355305 |
| Start |
172032415:172032416(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.603_604insTCCTTC |
| AA Mutation |
p.Ile201_Gly202insSerPhe(p.I201_G202insSF) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DNM3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355305 |
| Start |
171987687:171987687(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.267G>T |
| AA Mutation |
p.Lys89Asn(p.K89N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355305 |
| Start |
172042106:172042106(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1090C>T |
| AA Mutation |
p.Arg364Cys(p.R364C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355305 |
| Start |
172048647:172048647(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760422946
|
| CDS Mutation |
c.1232C>T |
| AA Mutation |
p.Ala411Val(p.A411V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355305 |
| Start |
172253618:172253618(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1735C>T |
| AA Mutation |
p.Arg579Trp(p.R579W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355305 |
| Start |
172308786:172308786(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1858G>A |
| AA Mutation |
p.Asp620Asn(p.D620N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355305 |
| Start |
172044410:172044410(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1154G>T |
| AA Mutation |
p.Arg385Leu(p.R385L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355305 |
| Start |
172048722:172048722(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1307T>C |
| AA Mutation |
p.Ile436Thr(p.I436T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355305 |
| Start |
172081888:172081888(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1479C>A |
| AA Mutation |
p.Phe493Leu(p.F493L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000355305 |
| Start |
172068836:172068836(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1353A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|