UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.160136611_160136613dup | CA571906061 | SLC22A1 | c.1022_1024dup (p.Pro341_Arg342insPro) c.*495_*497dup (n.*495_*497dup) c.446_448dup (p.Pro149_Arg150insPro) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.160136611C>A | CA366327624 | SLC22A1 | c.1022C>A (p.Pro341Gln) c.*495C>A (n.*495C>A) c.446C>A (p.Pro149Gln) | gnomAD v4 |
| 6 | g.160136611C= | CA1676922151 | SLC22A1 | c.1022C= (p.Pro341=) c.*495C= (n.*495C=) c.446C= (p.Pro149=) | |
| 6 | g.160136611C>G | CA4083927 | SLC22A1 | c.1022C>G (p.Pro341Arg) c.*495C>G (n.*495C>G) c.446C>G (p.Pro149Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.160136611C>T | CA4083926 | SLC22A1 | c.1022C>T (p.Pro341Leu) c.*495C>T (n.*495C>T) c.446C>T (p.Pro149Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.160136612G>A | CA4083928 | SLC22A1 | c.1023G>A (p.Pro341=) c.*496G>A (n.*496G>A) c.447G>A (p.Pro149=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.160136612G>C | CA453048203 | SLC22A1 | c.1023G>C (p.Pro341=) c.*496G>C (n.*496G>C) c.447G>C (p.Pro149=) | |
| 6 | g.160136612G= | CA1676922152 | SLC22A1 | c.1023G= (p.Pro341=) c.*496G= (n.*496G=) c.447G= (p.Pro149=) | |
| 6 | g.160136612G>T | CA453048204 | SLC22A1 | c.1023G>T (p.Pro341=) c.*496G>T (n.*496G>T) c.447G>T (p.Pro149=) | |
| 6 | g.160136613C>A | CA366327627 | SLC22A1 | c.1024C>A (p.Arg342Ser) c.*497C>A (n.*497C>A) c.448C>A (p.Arg150Ser) | |
| 6 | g.160136613C= | CA1676922153 | SLC22A1 | c.1024C= (p.Arg342=) c.*497C= (n.*497C=) c.448C= (p.Arg150=) | |
| 6 | g.160136613C>G | CA366327629 | SLC22A1 | c.1024C>G (p.Arg342Gly) c.*497C>G (n.*497C>G) c.448C>G (p.Arg150Gly) | |
| 6 | g.160136613C>T | CA4083929 | SLC22A1 | c.1024C>T (p.Arg342Cys) c.*497C>T (n.*497C>T) c.448C>T (p.Arg150Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.160136614G>A | CA4083930 | SLC22A1 | c.1025G>A (p.Arg342His) c.*498G>A (n.*498G>A) c.449G>A (p.Arg150His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.160136614G>C | CA366327633 | SLC22A1 | c.1025G>C (p.Arg342Pro) c.*498G>C (n.*498G>C) c.449G>C (p.Arg150Pro) | gnomAD v4 |
| 6 | g.160136614G= | CA1676922154 | SLC22A1 | c.1025G= (p.Arg342=) c.*498G= (n.*498G=) c.449G= (p.Arg150=) | |
| 6 | g.160136614G>T | CA366327635 | SLC22A1 | c.1025G>T (p.Arg342Leu) c.*498G>T (n.*498G>T) c.449G>T (p.Arg150Leu) | COSMIC |
| 6 | g.160136614_160136635delinsGCCTGAGGAAGCGCACCTTCAT | CA1676922155 | SLC22A1 | c.1025_1046delinsGCCTGAGGAAGCGCACCTTCAT (p.Arg342=) c.*498_*519delinsGCCTGAGGAAGCGCACCTTCAT (n.*498_*519delinsGCCTGAGGAAGCGCACCTTCAT) c.449_470delinsGCCTGAGGAAGCGCACCTTCAT (p.Arg150=) | |
| 6 | g.160136615C>A | CA453048208 | SLC22A1 | c.1026C>A (p.Arg342=) c.*499C>A (n.*499C>A) c.450C>A (p.Arg150=) | |
| 6 | g.160136615C>G | CA453048209 | SLC22A1 | c.1026C>G (p.Arg342=) c.*499C>G (n.*499C>G) c.450C>G (p.Arg150=) | |
| 6 | g.160136615C>T | CA453048210 | SLC22A1 | c.1026C>T (p.Arg342=) c.*499C>T (n.*499C>T) c.450C>T (p.Arg150=) | |
| 6 | g.160136620_160136640del | CA4083931 | SLC22A1 | c.1031_1051del (p.Arg344_Leu350del) c.*504_*524del (n.*504_*524del) c.455_475del (p.Arg152_Leu158del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.160136616C>A | CA366327638 | SLC22A1 | c.1027C>A (p.Leu343Met) c.*500C>A (n.*500C>A) c.451C>A (p.Leu151Met) | |
| 6 | g.160136616C>G | CA366327640 | SLC22A1 | c.1027C>G (p.Leu343Val) c.*500C>G (n.*500C>G) c.451C>G (p.Leu151Val) | |
| 6 | g.160136616C>T | CA453048211 | SLC22A1 | c.1027C>T (p.Leu343=) c.*500C>T (n.*500C>T) c.451C>T (p.Leu151=) | |
| 6 | g.160136617T>A | CA366327642 | SLC22A1 | c.1028T>A (p.Leu343Gln) c.*501T>A (n.*501T>A) c.452T>A (p.Leu151Gln) | |
| 6 | g.160136617T>C | CA366327644 | SLC22A1 | c.1028T>C (p.Leu343Pro) c.*501T>C (n.*501T>C) c.452T>C (p.Leu151Pro) | gnomAD v4 |
| 6 | g.160136617T>G | CA366327646 | SLC22A1 | c.1028T>G (p.Leu343Arg) c.*501T>G (n.*501T>G) c.452T>G (p.Leu151Arg) | |
| 6 | g.160136618G>A | CA453048215 | SLC22A1 | c.1029G>A (p.Leu343=) c.*502G>A (n.*502G>A) c.453G>A (p.Leu151=) | |
| 6 | g.160136618G>C | CA453048216 | SLC22A1 | c.1029G>C (p.Leu343=) c.*502G>C (n.*502G>C) c.453G>C (p.Leu151=) | |
| 6 | g.160136618G>T | CA453048217 | SLC22A1 | c.1029G>T (p.Leu343=) c.*502G>T (n.*502G>T) c.453G>T (p.Leu151=) | |
| 6 | g.160136619A>C | CA453048219 | SLC22A1 | c.1030A>C (p.Arg344=) c.*503A>C (n.*503A>C) c.454A>C (p.Arg152=) | |
| 6 | g.160136619A>G | CA366327648 | SLC22A1 | c.1030A>G (p.Arg344Gly) c.*503A>G (n.*503A>G) c.454A>G (p.Arg152Gly) | |
| 6 | g.160136619A>T | CA366327650 | SLC22A1 | c.1030A>T (p.Arg344Trp) c.*503A>T (n.*503A>T) c.454A>T (p.Arg152Trp) | |
| 6 | g.160136620G>A | CA366327651 | SLC22A1 | c.1031G>A (p.Arg344Lys) c.*504G>A (n.*504G>A) c.455G>A (p.Arg152Lys) | |
| 6 | g.160136620G>C | CA366327653 | SLC22A1 | c.1031G>C (p.Arg344Thr) c.*504G>C (n.*504G>C) c.455G>C (p.Arg152Thr) | |
| 6 | g.160136620G>T | CA366327655 | SLC22A1 | c.1031G>T (p.Arg344Met) c.*504G>T (n.*504G>T) c.455G>T (p.Arg152Met) | |
| 6 | g.160136621G>A | CA453048220 | SLC22A1 | c.1032G>A (p.Arg344=) c.*505G>A (n.*505G>A) c.456G>A (p.Arg152=) | |
| 6 | g.160136621G>C | CA366327657 | SLC22A1 | c.1032G>C (p.Arg344Ser) c.*505G>C (n.*505G>C) c.456G>C (p.Arg152Ser) | |
| 6 | g.160136621G= | CA1676922156 | SLC22A1 | c.1032G= (p.Arg344=) c.*505G= (n.*505G=) c.456G= (p.Arg152=) | |
| 6 | g.160136621G>T | CA366327659 | SLC22A1 | c.1032G>T (p.Arg344Ser) c.*505G>T (n.*505G>T) c.456G>T (p.Arg152Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.160136622A>C | CA366327664 | SLC22A1 | c.1033A>C (p.Lys345Gln) c.*506A>C (n.*506A>C) c.457A>C (p.Lys153Gln) | |
| 6 | g.160136622A>G | CA366327662 | SLC22A1 | c.1033A>G (p.Lys345Glu) c.*506A>G (n.*506A>G) c.457A>G (p.Lys153Glu) | |
| 6 | g.160136622A>T | CA366327661 | SLC22A1 | c.1033A>T (p.Lys345Ter) c.*506A>T (n.*506A>T) c.457A>T (p.Lys153Ter) | |
| 6 | g.160136623A>C | CA366327667 | SLC22A1 | c.1034A>C (p.Lys345Thr) c.*507A>C (n.*507A>C) c.458A>C (p.Lys153Thr) | |
| 6 | g.160136623A>G | CA366327668 | SLC22A1 | c.1034A>G (p.Lys345Arg) c.*507A>G (n.*507A>G) c.458A>G (p.Lys153Arg) | |
| 6 | g.160136623A>T | CA366327670 | SLC22A1 | c.1034A>T (p.Lys345Met) c.*507A>T (n.*507A>T) c.458A>T (p.Lys153Met) | |
| 6 | g.160136624G>A | CA453048224 | SLC22A1 | c.1035G>A (p.Lys345=) c.*508G>A (n.*508G>A) c.459G>A (p.Lys153=) | |
| 6 | g.160136624G>C | CA366327672 | SLC22A1 | c.1035G>C (p.Lys345Asn) c.*508G>C (n.*508G>C) c.459G>C (p.Lys153Asn) | |
| 6 | g.160136624G= | CA1676922157 | SLC22A1 | c.1035G= (p.Lys345=) c.*508G= (n.*508G=) c.459G= (p.Lys153=) |