| Mutation ID |
42 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000338354 |
| Start |
122625932:122625932(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5249-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
43 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000338354 |
| Start |
122579645:122579646(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.747_748insAAGAAT |
| AA Mutation |
p.Val249_Leu250insLysAsn(p.V249_L250insKN) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DMBT1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338354 |
| Start |
122621356:122621356(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5197G>A |
| AA Mutation |
p.Glu1733Lys(p.E1733K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338354 |
| Start |
122643169:122643169(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373485754
|
| CDS Mutation |
c.7013G>A |
| AA Mutation |
p.Arg2338His(p.R2338H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338354 |
| Start |
122631167:122631167(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5845A>G |
| AA Mutation |
p.Thr1949Ala(p.T1949A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338354 |
| Start |
122643168:122643168(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7012C>T |
| AA Mutation |
p.Arg2338Cys(p.R2338C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000338354 |
| Start |
122643341:122643341(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7185C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000338354 |
| Start |
122625287:122625287(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5232A>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000338354 |
| Start |
122630399:122630399(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5547A>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000338354 |
| Start |
122576514:122576514(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.399C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000338354 |
| Start |
122643282:122643282(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.7126C>T |
| AA Mutation |
p.Arg2376Ter(p.R2376*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000338354 |
| Start |
122636022:122636022(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6193G>T |
| AA Mutation |
p.Glu2065Ter(p.E2065*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000338354 |
| Start |
122620252:122620252(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs745586991
|
| CDS Mutation |
c.4859-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|