| Mutation ID |
28 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000359933 |
| Start |
96311209:96311210(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4068_4069insTGACTGTC |
| AA Mutation |
p.Met1357Ter(p.M1357*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
29 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000359933 |
| Start |
96309536:96309537(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4219_4220insTTATT |
| AA Mutation |
p.Gln1407LeufsTer8(p.Q1407Lfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ATG2B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359933 |
| Start |
96295534:96295534(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5166C>A |
| AA Mutation |
p.Phe1722Leu(p.F1722L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359933 |
| Start |
96317761:96317761(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2974A>C |
| AA Mutation |
p.Ser992Arg(p.S992R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359933 |
| Start |
96303210:96303210(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4888G>A |
| AA Mutation |
p.Asp1630Asn(p.D1630N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359933 |
| Start |
96317201:96317201(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3154C>A |
| AA Mutation |
p.Leu1052Ile(p.L1052I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359933 |
| Start |
96295095:96295095(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5291T>G |
| AA Mutation |
p.Leu1764Arg(p.L1764R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359933 |
| Start |
96329624:96329624(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1741A>G |
| AA Mutation |
p.Thr581Ala(p.T581A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359933 |
| Start |
96332508:96332508(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1355C>T |
| AA Mutation |
p.Ala452Val(p.A452V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000359933 |
| Start |
96332556:96332556(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1307C>A |
| AA Mutation |
p.Ser436Ter(p.S436*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|