Primary Site >> Liver Cancer
Gene >> ABCB5
| ID | 1 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000404938 |
| Start | 20632076:20632076(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.277A>G |
| AA Mutation | p.Thr93Ala(p.T93A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 2 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000404938 |
| Start | 20651486:20651486(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1399G>T |
| AA Mutation | p.Val467Phe(p.V467F) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 3 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000404938 |
| Start | 20643525:20643525(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.571A>G |
| AA Mutation | p.Thr191Ala(p.T191A) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 4 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000404938 |
| Start | 20643478:20643478(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs753883618 |
| CDS Mutation | c.524G>C |
| AA Mutation | p.Ser175Thr(p.S175T) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 5 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000404938 |
| Start | 20739120:20739120(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.3005G>T |
| AA Mutation | p.Ser1002Ile(p.S1002I) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 6 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000404938 |
| Start | 20658573:20658573(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1604T>G |
| AA Mutation | p.Ile535Ser(p.I535S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 7 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000404938 |
| Start | 20658525:20658525(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1556G>T |
| AA Mutation | p.Gly519Val(p.G519V) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 8 |
| Mutation Consequence | missense_variant;splice_region_variant |
| Transcription ID | ENST00000404938 |
| Start | 20723218:20723218(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.2624A>T |
| AA Mutation | p.Lys875Met(p.K875M) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 9 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000404938 |
| Start | 20658513:20658513(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1544A>G |
| AA Mutation | p.Asn515Ser(p.N515S) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 10 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000404938 |
| Start | 20650065:20650065(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | novel |
| CDS Mutation | c.1250T>A |
| AA Mutation | p.Val417Asp(p.V417D) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 11 |
| Mutation Consequence | missense_variant |
| Transcription ID | ENST00000404938 |
| Start | 20646023:20646023(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.866T>A |
| AA Mutation | p.Val289Glu(p.V289E) |
| Mutation Classification | Missense_Mutation |
| Feature Type | Transcript |
| ID | 12 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000404938 |
| Start | 20651485:20651485(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.1398G>T |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 13 |
| Mutation Consequence | synonymous_variant |
| Transcription ID | ENST00000404938 |
| Start | 20645860:20645860(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | null |
| CDS Mutation | c.783C>A |
| Mutation Classification | Silent |
| Feature Type | Transcript |
| ID | 14 |
| Mutation Consequence | splice_donor_variant |
| Transcription ID | ENST00000404938 |
| Start | 20698551:20698551(version: GRCh38) |
| Mutation Type | SNP |
| dbSNP_RS | rs756265243 |
| CDS Mutation | c.2154+1G>A |
| Mutation Classification | Splice_Site |
| Feature Type | Transcript |