| Mutation ID |
25 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000295736 |
| Start |
27395116:27395116(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2677-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
26 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000295736 |
| Start |
27431485:27431487(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.934_936delTCT |
| AA Mutation |
p.Ser313del(p.S313del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SLC4A7
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295736 |
| Start |
27411741:27411741(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1640G>T |
| AA Mutation |
p.Arg547Ile(p.R547I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295736 |
| Start |
27418598:27418598(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1520G>T |
| AA Mutation |
p.Arg507Ile(p.R507I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295736 |
| Start |
27398338:27398338(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs142923476
|
| CDS Mutation |
c.2416C>T |
| AA Mutation |
p.Arg806Cys(p.R806C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295736 |
| Start |
27403331:27403331(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2102C>A |
| AA Mutation |
p.Ser701Tyr(p.S701Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295736 |
| Start |
27431326:27431326(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1095G>T |
| AA Mutation |
p.Lys365Asn(p.K365N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000295736 |
| Start |
27456655:27456655(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.29T>G |
| AA Mutation |
p.Leu10Ter(p.L10*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|