| Mutation ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000237612 |
| Start |
88092243:88092243(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1959delA |
| AA Mutation |
p.Lys653AsnfsTer11(p.K653Nfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000237612 |
| Start |
88094636:88094637(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1760dupT |
| AA Mutation |
p.Leu587PhefsTer18(p.L587Ffs*18) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ABCG2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000237612 |
| Start |
88131134:88131134(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753759474
|
| CDS Mutation |
c.458C>T |
| AA Mutation |
p.Thr153Met(p.T153M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000237612 |
| Start |
88097573:88097573(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1527G>T |
| AA Mutation |
p.Met509Ile(p.M509I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000237612 |
| Start |
88101241:88101241(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1356G>T |
| AA Mutation |
p.Lys452Asn(p.K452N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000237612 |
| Start |
88132576:88132576(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200415908
|
| CDS Mutation |
c.263C>T |
| AA Mutation |
p.Ser88Leu(p.S88L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000237612 |
| Start |
88114966:88114966(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.934G>T |
| AA Mutation |
p.Asp312Tyr(p.D312Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000237612 |
| Start |
88139802:88139802(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780975480
|
| CDS Mutation |
c.194C>T |
| AA Mutation |
p.Ser65Leu(p.S65L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000237612 |
| Start |
88118244:88118244(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs140207606
|
| CDS Mutation |
c.706C>T |
| AA Mutation |
p.Arg236Ter(p.R236*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000237612 |
| Start |
88121756:88121756(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.568G>T |
| AA Mutation |
p.Glu190Ter(p.E190*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|