| Mutation ID |
32 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000609686 |
| Start |
13615529:13615530(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1463_1464insCTTATATTTAGAAGAAG |
| AA Mutation |
p.Lys488AsnfsTer16(p.K488Nfs*16) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
33 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000609686 |
| Start |
13569829:13569829(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2359+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GRIN2B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000609686 |
| Start |
13567108:13567108(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2515G>A |
| AA Mutation |
p.Glu839Lys(p.E839K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000609686 |
| Start |
13865872:13865872(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.337G>A |
| AA Mutation |
p.Asp113Asn(p.D113N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000609686 |
| Start |
13564426:13564426(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2812C>T |
| AA Mutation |
p.Arg938Cys(p.R938C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000609686 |
| Start |
13562794:13562794(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4444T>A |
| AA Mutation |
p.Ser1482Thr(p.S1482T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000609686 |
| Start |
13866073:13866073(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs370809599
|
| CDS Mutation |
c.136G>A |
| AA Mutation |
p.Asp46Asn(p.D46N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000609686 |
| Start |
13563666:13563666(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3572G>A |
| AA Mutation |
p.Ser1191Asn(p.S1191N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|