Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.132313609T>C | CA3403432 | MIR3936HG,SLC22A4 | c.498-5T>C (n.498-5T>C) n.302-5T>C n.825-1356A>G c.-31-5T>C (n.-31-5T>C) c.394-5T>C (n.394-5T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132313609T= | CA1583118297 | MIR3936HG,SLC22A4 | c.498-5T= (n.498-5T=) n.302-5T= n.825-1356A= c.-31-5T= (n.-31-5T=) c.394-5T= (n.394-5T=) | |
5 | g.132313611T>C | CA3403433 | MIR3936HG,SLC22A4 | c.498-3T>C (n.498-3T>C) n.302-3T>C n.825-1358A>G c.-31-3T>C (n.-31-3T>C) c.394-3T>C (n.394-3T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132313611T= | CA1583118299 | MIR3936HG,SLC22A4 | c.498-3T= (n.498-3T=) n.302-3T= n.825-1358A= c.-31-3T= (n.-31-3T=) c.394-3T= (n.394-3T=) | |
5 | g.132313612A>C | CA360803800 | MIR3936HG,SLC22A4 | c.498-2A>C (n.498-2A>C) n.302-2A>C n.825-1359T>G c.-31-2A>C (n.-31-2A>C) c.394-2A>C (n.394-2A>C) | |
5 | g.132313612A>G | CA360803801 | MIR3936HG,SLC22A4 | c.498-2A>G (n.498-2A>G) n.302-2A>G n.825-1359T>C c.-31-2A>G (n.-31-2A>G) c.394-2A>G (n.394-2A>G) | |
5 | g.132313612A>T | CA360803802 | MIR3936HG,SLC22A4 | c.498-2A>T (n.498-2A>T) n.302-2A>T n.825-1359T>A c.-31-2A>T (n.-31-2A>T) c.394-2A>T (n.394-2A>T) | |
5 | g.132313612_132313613delinsAG | CA1583118304 | MIR3936HG,SLC22A4 | c.498-2_498-1delinsAG (n.498-2_498-1delinsAG) n.302-2_302-1delinsAG n.825-1360_825-1359delinsCT c.-31-2_-31-1delinsAG (n.-31-2_-31-1delinsAG) c.394-2_394-1delinsAG (n.394-2_394-1delinsAG) | |
5 | g.132313613G>A | CA360803804 | MIR3936HG,SLC22A4 | c.498-1G>A (n.498-1G>A) n.302-1G>A n.825-1360C>T c.-31-1G>A (n.-31-1G>A) c.394-1G>A (n.394-1G>A) | gnomAD v4 |
5 | g.132313613G>C | CA360803803 | MIR3936HG,SLC22A4 | c.498-1G>C (n.498-1G>C) n.302-1G>C n.825-1360C>G c.-31-1G>C (n.-31-1G>C) c.394-1G>C (n.394-1G>C) | |
5 | g.132313613G= | CA1583118308 | MIR3936HG,SLC22A4 | c.498-1G= (n.498-1G=) n.302-1G= n.825-1360C= c.-31-1G= (n.-31-1G=) c.394-1G= (n.394-1G=) | |
5 | g.132313613G>T | CA127189352 | MIR3936HG,SLC22A4 | c.498-1G>T (n.498-1G>T) n.302-1G>T n.825-1360C>A c.-31-1G>T (n.-31-1G>T) c.394-1G>T (n.394-1G>T) | dbSNP |
5 | g.132313614del | CA1583118307 | MIR3936HG,SLC22A4 | c.498del n.302del n.825-1360del c.-31del c.394del | dbSNP |
5 | g.132313614G>A | CA446328362 | MIR3936HG,SLC22A4 | c.498G>A (p.Arg166=) n.302G>A n.825-1361C>T c.-31G>A (n.-31G>A) c.394G>A (p.Val132Ile) | |
5 | g.132313614G>C | CA360803805 | MIR3936HG,SLC22A4 | c.498G>C (p.Arg166Ser) n.302G>C n.825-1361C>G c.-31G>C (n.-31G>C) c.394G>C (p.Val132Leu) | |
5 | g.132313614G>T | CA360803806 | MIR3936HG,SLC22A4 | c.498G>T (p.Arg166Ser) n.302G>T n.825-1361C>A c.-31G>T (n.-31G>T) c.394G>T (p.Val132Phe) | |
5 | g.132313615T>A | CA360803807 | MIR3936HG,SLC22A4 | c.499T>A (p.Phe167Ile) n.303T>A n.825-1362A>T c.-30T>A (n.-30T>A) c.395T>A (p.Val132Asp) | |
5 | g.132313615T>C | CA360803808 | MIR3936HG,SLC22A4 | c.499T>C (p.Phe167Leu) n.303T>C n.825-1362A>G c.-30T>C (n.-30T>C) c.395T>C (p.Val132Ala) | |
5 | g.132313615T>G | CA360803809 | MIR3936HG,SLC22A4 | c.499T>G (p.Phe167Val) n.303T>G n.825-1362A>C c.-30T>G (n.-30T>G) c.395T>G (p.Val132Gly) | |
5 | g.132313616T>A | CA360803810 | MIR3936HG,SLC22A4 | c.500T>A (p.Phe167Tyr) n.304T>A n.825-1363A>T c.-29T>A (n.-29T>A) c.396T>A (p.Val132=) | |
5 | g.132313616T>C | CA360803811 | MIR3936HG,SLC22A4 | c.500T>C (p.Phe167Ser) n.304T>C n.825-1363A>G c.-29T>C (n.-29T>C) c.396T>C (p.Val132=) | |
5 | g.132313616T>G | CA360803812 | MIR3936HG,SLC22A4 | c.500T>G (p.Phe167Cys) n.304T>G n.825-1363A>C c.-29T>G (n.-29T>G) c.396T>G (p.Val132=) | |
5 | g.132313617T>A | CA360803813 | MIR3936HG,SLC22A4 | c.501T>A (p.Phe167Leu) n.305T>A n.825-1364A>T c.-28T>A (n.-28T>A) c.397T>A (p.Trp133Arg) | |
5 | g.132313617T>C | CA446328370 | MIR3936HG,SLC22A4 | c.501T>C (p.Phe167=) n.305T>C n.825-1364A>G c.-28T>C (n.-28T>C) c.397T>C (p.Trp133Arg) | gnomAD v4 |
5 | g.132313617T>G | CA360803814 | MIR3936HG,SLC22A4 | c.501T>G (p.Phe167Leu) n.305T>G n.825-1364A>C c.-28T>G (n.-28T>G) c.397T>G (p.Trp133Gly) | |
5 | g.132313618G>A | CA360803815 | MIR3936HG,SLC22A4 | c.502G>A (p.Gly168Ser) n.306G>A n.825-1365C>T c.-27G>A (n.-27G>A) c.398G>A (p.Trp133Ter) | |
5 | g.132313618G>C | CA360803816 | MIR3936HG,SLC22A4 | c.502G>C (p.Gly168Arg) n.306G>C n.825-1365C>G c.-27G>C (n.-27G>C) c.398G>C (p.Trp133Ser) | |
5 | g.132313618G>T | CA360803817 | MIR3936HG,SLC22A4 | c.502G>T (p.Gly168Cys) n.306G>T n.825-1365C>A c.-27G>T (n.-27G>T) c.398G>T (p.Trp133Leu) | gnomAD v4 |
5 | g.132313619G>A | CA360803820 | MIR3936HG,SLC22A4 | c.503G>A (p.Gly168Asp) n.307G>A n.825-1366C>T c.-26G>A (n.-26G>A) c.399G>A (p.Trp133Ter) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.132313619G>C | CA360803818 | MIR3936HG,SLC22A4 | c.503G>C (p.Gly168Ala) n.307G>C n.825-1366C>G c.-26G>C (n.-26G>C) c.399G>C (p.Trp133Cys) | |
5 | g.132313619G= | CA1583118312 | MIR3936HG,SLC22A4 | c.503G= (p.Gly168=) n.307G= n.825-1366C= c.-26G= (n.-26G=) c.399G= (p.Trp133=) | |
5 | g.132313619G>T | CA360803819 | MIR3936HG,SLC22A4 | c.503G>T (p.Gly168Val) n.307G>T n.825-1366C>A c.-26G>T (n.-26G>T) c.399G>T (p.Trp133Cys) | |
5 | g.132313620C>A | CA446328378 | MIR3936HG,SLC22A4 | c.504C>A (p.Gly168=) n.308C>A n.825-1367G>T c.-25C>A (n.-25C>A) c.400C>A (p.Gln134Lys) | COSMIC |
5 | g.132313620C>G | CA446328381 | MIR3936HG,SLC22A4 | c.504C>G (p.Gly168=) n.308C>G n.825-1367G>C c.-25C>G (n.-25C>G) c.400C>G (p.Gln134Glu) | |
5 | g.132313620C>T | CA446328383 | MIR3936HG,SLC22A4 | c.504C>T (p.Gly168=) n.308C>T n.825-1367G>A c.-25C>T (n.-25C>T) c.400C>T (p.Gln134Ter) | |
5 | g.132313621A= | CA1583118315 | MIR3936HG,SLC22A4 | c.505A= (p.Arg169=) n.309A= n.825-1368T= c.-24A= (n.-24A=) c.401A= (p.Gln134=) | |
5 | g.132313621A>C | CA446328385 | MIR3936HG,SLC22A4 | c.505A>C (p.Arg169=) n.309A>C n.825-1368T>G c.-24A>C (n.-24A>C) c.401A>C (p.Gln134Pro) | dbSNP |
5 | g.132313621A>G | CA127189360 | MIR3936HG,SLC22A4 | c.505A>G (p.Arg169Gly) n.309A>G n.825-1368T>C c.-24A>G (n.-24A>G) c.401A>G (p.Gln134Arg) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.132313621A>T | CA360803821 | MIR3936HG,SLC22A4 | c.505A>T (p.Arg169Trp) n.309A>T n.825-1368T>A c.-24A>T (n.-24A>T) c.401A>T (p.Gln134Leu) | |
5 | g.132313622G>A | CA360803822 | MIR3936HG,SLC22A4 | c.506G>A (p.Arg169Lys) n.310G>A n.825-1369C>T c.-23G>A (n.-23G>A) c.402G>A (p.Gln134=) | |
5 | g.132313622G>C | CA360803823 | MIR3936HG,SLC22A4 | c.506G>C (p.Arg169Thr) n.310G>C n.825-1369C>G c.-23G>C (n.-23G>C) c.402G>C (p.Gln134His) | |
5 | g.132313622G>T | CA360803824 | MIR3936HG,SLC22A4 | c.506G>T (p.Arg169Met) n.310G>T n.825-1369C>A c.-23G>T (n.-23G>T) c.402G>T (p.Gln134His) | |
5 | g.132313623G>A | CA446328396 | MIR3936HG,SLC22A4 | c.507G>A (p.Arg169=) n.311G>A n.825-1370C>T c.-22G>A (n.-22G>A) c.403G>A (p.Glu135Lys) | COSMIC |
5 | g.132313623G>C | CA360803825 | MIR3936HG,SLC22A4 | c.507G>C (p.Arg169Ser) n.311G>C n.825-1370C>G c.-22G>C (n.-22G>C) c.403G>C (p.Glu135Gln) | |
5 | g.132313623G>T | CA360803826 | MIR3936HG,SLC22A4 | c.507G>T (p.Arg169Ser) n.311G>T n.825-1370C>A c.-22G>T (n.-22G>T) c.403G>T (p.Glu135Ter) | |
5 | g.132313624A>C | CA360803827 | MIR3936HG,SLC22A4 | c.508A>C (p.Lys170Gln) n.312A>C n.825-1371T>G c.-21A>C (n.-21A>C) c.404A>C (p.Glu135Ala) | |
5 | g.132313624A>G | CA360803828 | MIR3936HG,SLC22A4 | c.508A>G (p.Lys170Glu) n.312A>G n.825-1371T>C c.-21A>G (n.-21A>G) c.404A>G (p.Glu135Gly) | gnomAD v4 |
5 | g.132313624A>T | CA360803829 | MIR3936HG,SLC22A4 | c.508A>T (p.Lys170Ter) n.312A>T n.825-1371T>A c.-21A>T (n.-21A>T) c.404A>T (p.Glu135Val) | |
5 | g.132313625A>C | CA360803830 | MIR3936HG,SLC22A4 | c.509A>C (p.Lys170Thr) n.313A>C n.825-1372T>G c.-20A>C (n.-20A>C) c.405A>C (p.Glu135Asp) | |
5 | g.132313625A>G | CA360803831 | MIR3936HG,SLC22A4 | c.509A>G (p.Lys170Arg) n.313A>G n.825-1372T>C c.-20A>G (n.-20A>G) c.405A>G (p.Glu135=) | |
5 | g.132313625A>T | CA360803832 | MIR3936HG,SLC22A4 | c.509A>T (p.Lys170Met) n.313A>T n.825-1372T>A c.-20A>T (n.-20A>T) c.405A>T (p.Glu135Asp) | |
5 | g.132313626G>A | CA446328406 | MIR3936HG,SLC22A4 | c.510G>A (p.Lys170=) n.314G>A n.825-1373C>T c.-19G>A (n.-19G>A) c.406G>A (p.Glu136Lys) | |
5 | g.132313626G>C | CA360803834 | MIR3936HG,SLC22A4 | c.510G>C (p.Lys170Asn) n.314G>C n.825-1373C>G c.-19G>C (n.-19G>C) c.406G>C (p.Glu136Gln) | |
5 | g.132313626G>T | CA360803833 | MIR3936HG,SLC22A4 | c.510G>T (p.Lys170Asn) n.314G>T n.825-1373C>A c.-19G>T (n.-19G>T) c.406G>T (p.Glu136Ter) | |
5 | g.132313627A>C | CA360803835 | MIR3936HG,SLC22A4 | c.511A>C (p.Asn171His) n.315A>C n.825-1374T>G c.-18A>C (n.-18A>C) c.407A>C (p.Glu136Ala) | |
5 | g.132313627A>G | CA360803837 | MIR3936HG,SLC22A4 | c.511A>G (p.Asn171Asp) n.315A>G n.825-1374T>C c.-18A>G (n.-18A>G) c.407A>G (p.Glu136Gly) | |
5 | g.132313627A>T | CA360803836 | MIR3936HG,SLC22A4 | c.511A>T (p.Asn171Tyr) n.315A>T n.825-1374T>A c.-18A>T (n.-18A>T) c.407A>T (p.Glu136Val) | |
5 | g.132313628A>C | CA360803838 | MIR3936HG,SLC22A4 | c.512A>C (p.Asn171Thr) n.316A>C n.825-1375T>G c.-17A>C (n.-17A>C) c.408A>C (p.Glu136Asp) | |
5 | g.132313628A>G | CA360803839 | MIR3936HG,SLC22A4 | c.512A>G (p.Asn171Ser) n.316A>G n.825-1375T>C c.-17A>G (n.-17A>G) c.408A>G (p.Glu136=) | |
5 | g.132313628A>T | CA360803840 | MIR3936HG,SLC22A4 | c.512A>T (p.Asn171Ile) n.316A>T n.825-1375T>A c.-17A>T (n.-17A>T) c.408A>T (p.Glu136Asp) | |
5 | g.132313629C>A | CA360803841 | MIR3936HG,SLC22A4 | c.513C>A (p.Asn171Lys) n.317C>A n.825-1376G>T c.-16C>A (n.-16C>A) c.409C>A (p.Arg137Ser) | |
5 | g.132313629C= | CA1583118319 | MIR3936HG,SLC22A4 | c.513C= (p.Asn171=) n.317C= n.825-1376G= c.-16C= (n.-16C=) c.409C= (p.Arg137=) | |
5 | g.132313629C>G | CA360803842 | MIR3936HG,SLC22A4 | c.513C>G (p.Asn171Lys) n.317C>G n.825-1376G>C c.-16C>G (n.-16C>G) c.409C>G (p.Arg137Gly) | |
5 | g.132313629C>T | CA3403434 | MIR3936HG,SLC22A4 | c.513C>T (p.Asn171=) n.317C>T n.825-1376G>A c.-16C>T (n.-16C>T) c.409C>T (p.Arg137Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.132313630G>A | CA3403435 | MIR3936HG,SLC22A4 | c.514G>A (p.Val172Ile) n.318G>A n.825-1377C>T c.-15G>A (n.-15G>A) c.410G>A (p.Arg137His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132313630G>C | CA3403436 | MIR3936HG,SLC22A4 | c.514G>C (p.Val172Leu) n.318G>C n.825-1377C>G c.-15G>C (n.-15G>C) c.410G>C (p.Arg137Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.132313630G= | CA1583118322 | MIR3936HG,SLC22A4 | c.514G= (p.Val172=) n.318G= n.825-1377C= c.-15G= (n.-15G=) c.410G= (p.Arg137=) | |
5 | g.132313630G>T | CA360803843 | MIR3936HG,SLC22A4 | c.514G>T (p.Val172Phe) n.318G>T n.825-1377C>A c.-15G>T (n.-15G>T) c.410G>T (p.Arg137Leu) | |
5 | g.132313630_132313631insC | CA562762139 | MIR3936HG,SLC22A4 | c.514_515insC (p.Val172AlafsTer?) n.318_319insC n.825-1378_825-1377insG c.-15_-14insC (n.-15_-14insC) c.410_411insC (p.Ser138PhefsTer?) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.132313631T>A | CA360803844 | MIR3936HG,SLC22A4 | c.515T>A (p.Val172Asp) n.319T>A n.825-1378A>T c.-14T>A (n.-14T>A) c.411T>A (p.Arg137=) | |
5 | g.132313631T>C | CA360803845 | MIR3936HG,SLC22A4 | c.515T>C (p.Val172Ala) n.319T>C n.825-1378A>G c.-14T>C (n.-14T>C) c.411T>C (p.Arg137=) | |
5 | g.132313631T>G | CA360803846 | MIR3936HG,SLC22A4 | c.515T>G (p.Val172Gly) n.319T>G n.825-1378A>C c.-14T>G (n.-14T>G) c.411T>G (p.Arg137=) | |
5 | g.132313632T>A | CA446328445 | MIR3936HG,SLC22A4 | c.516T>A (p.Val172=) n.320T>A n.825-1379A>T c.-13T>A (n.-13T>A) c.412T>A (p.Ser138Thr) | |
5 | g.132313632T>C | CA446328450 | MIR3936HG,SLC22A4 | c.516T>C (p.Val172=) n.320T>C n.825-1379A>G c.-13T>C (n.-13T>C) c.412T>C (p.Ser138Pro) | gnomAD v3 gnomAD v4 |
5 | g.132313632T>G | CA446328447 | MIR3936HG,SLC22A4 | c.516T>G (p.Val172=) n.320T>G n.825-1379A>C c.-13T>G (n.-13T>G) c.412T>G (p.Ser138Ala) | |
5 | g.132313633C>A | CA360803847 | MIR3936HG,SLC22A4 | c.517C>A (p.Leu173Ile) n.321C>A n.825-1380G>T c.-12C>A (n.-12C>A) c.413C>A (p.Ser138Tyr) | |
5 | g.132313633C>G | CA360803848 | MIR3936HG,SLC22A4 | c.517C>G (p.Leu173Val) n.321C>G n.825-1380G>C c.-12C>G (n.-12C>G) c.413C>G (p.Ser138Cys) | gnomAD v4 |
5 | g.132313633C>T | CA360803849 | MIR3936HG,SLC22A4 | c.517C>T (p.Leu173Phe) n.321C>T n.825-1380G>A c.-12C>T (n.-12C>T) c.413C>T (p.Ser138Phe) | gnomAD v4 |
5 | g.132313634T>A | CA360803850 | MIR3936HG,SLC22A4 | c.518T>A (p.Leu173His) n.322T>A n.825-1381A>T c.-11T>A (n.-11T>A) c.414T>A (p.Ser138=) | |
5 | g.132313634T>C | CA360803852 | MIR3936HG,SLC22A4 | c.518T>C (p.Leu173Pro) n.322T>C n.825-1381A>G c.-11T>C (n.-11T>C) c.414T>C (p.Ser138=) | |
5 | g.132313634T>G | CA360803851 | MIR3936HG,SLC22A4 | c.518T>G (p.Leu173Arg) n.322T>G n.825-1381A>C c.-11T>G (n.-11T>G) c.414T>G (p.Ser138=) | |
5 | g.132313635C>A | CA446328456 | MIR3936HG,SLC22A4 | c.519C>A (p.Leu173=) n.323C>A n.825-1382G>T c.-10C>A (n.-10C>A) c.415C>A (p.Leu139Ile) | |
5 | g.132313635C= | CA1583118328 | MIR3936HG,SLC22A4 | c.519C= (p.Leu173=) n.323C= n.825-1382G= c.-10C= (n.-10C=) c.415C= (p.Leu139=) | |
5 | g.132313635C>G | CA446328457 | MIR3936HG,SLC22A4 | c.519C>G (p.Leu173=) n.323C>G n.825-1382G>C c.-10C>G (n.-10C>G) c.415C>G (p.Leu139Val) | dbSNP |
5 | g.132313635C>T | CA446328458 | MIR3936HG,SLC22A4 | c.519C>T (p.Leu173=) n.323C>T n.825-1382G>A c.-10C>T (n.-10C>T) c.415C>T (p.Leu139Phe) | dbSNP |
5 | g.132313636T>A | CA360803853 | MIR3936HG,SLC22A4 | c.520T>A (p.Phe174Ile) n.324T>A n.825-1383A>T c.-9T>A (n.-9T>A) c.416T>A (p.Leu139His) | |
5 | g.132313636T>C | CA360803854 | MIR3936HG,SLC22A4 | c.520T>C (p.Phe174Leu) n.324T>C n.825-1383A>G c.-9T>C (n.-9T>C) c.416T>C (p.Leu139Pro) | gnomAD v4 |
5 | g.132313636T>G | CA360803855 | MIR3936HG,SLC22A4 | c.520T>G (p.Phe174Val) n.324T>G n.825-1383A>C c.-9T>G (n.-9T>G) c.416T>G (p.Leu139Arg) | |
5 | g.132313637T>A | CA360803856 | MIR3936HG,SLC22A4 | c.521T>A (p.Phe174Tyr) n.325T>A n.825-1384A>T c.-8T>A (n.-8T>A) c.417T>A (p.Leu139=) | |
5 | g.132313637T>C | CA360803857 | MIR3936HG,SLC22A4 | c.521T>C (p.Phe174Ser) n.325T>C n.825-1384A>G c.-8T>C (n.-8T>C) c.417T>C (p.Leu139=) | |
5 | g.132313637T>G | CA360803858 | MIR3936HG,SLC22A4 | c.521T>G (p.Phe174Cys) n.325T>G n.825-1384A>C c.-8T>G (n.-8T>G) c.417T>G (p.Leu139=) | |
5 | g.132313638C>A | CA360803859 | MIR3936HG,SLC22A4 | c.522C>A (p.Phe174Leu) n.326C>A n.825-1385G>T c.-7C>A (n.-7C>A) c.418C>A (p.Arg140Ser) | |
5 | g.132313638C= | CA1583118336 | MIR3936HG,SLC22A4 | c.522C= (p.Phe174=) n.326C= n.825-1385G= c.-7C= (n.-7C=) c.418C= (p.Arg140=) | |
5 | g.132313638C>G | CA3403438 | MIR3936HG,SLC22A4 | c.522C>G (p.Phe174Leu) n.326C>G n.825-1385G>C c.-7C>G (n.-7C>G) c.418C>G (p.Arg140Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132313638C>T | CA3403437 | MIR3936HG,SLC22A4 | c.522C>T (p.Phe174=) n.326C>T n.825-1385G>A c.-7C>T (n.-7C>T) c.418C>T (p.Arg140Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132313639G>A | CA3403439 | MIR3936HG,SLC22A4 | c.523G>A (p.Ala175Thr) n.327G>A n.825-1386C>T c.-6G>A (n.-6G>A) c.419G>A (p.Arg140His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132313639G>C | CA360803860 | MIR3936HG,SLC22A4 | c.523G>C (p.Ala175Pro) n.327G>C n.825-1386C>G c.-6G>C (n.-6G>C) c.419G>C (p.Arg140Pro) | gnomAD v4 |
5 | g.132313639G= | CA1583118341 | MIR3936HG,SLC22A4 | c.523G= (p.Ala175=) n.327G= n.825-1386C= c.-6G= (n.-6G=) c.419G= (p.Arg140=) | |
5 | g.132313639G>T | CA360803861 | MIR3936HG,SLC22A4 | c.523G>T (p.Ala175Ser) n.327G>T n.825-1386C>A c.-6G>T (n.-6G>T) c.419G>T (p.Arg140Leu) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.132313640C>A | CA360803864 | MIR3936HG,SLC22A4 | c.524C>A (p.Ala175Glu) n.328C>A n.825-1387G>T c.-5C>A (n.-5C>A) c.420C>A (p.Arg140=) | |
5 | g.132313640C>G | CA360803862 | MIR3936HG,SLC22A4 | c.524C>G (p.Ala175Gly) n.328C>G n.825-1387G>C c.-5C>G (n.-5C>G) c.420C>G (p.Arg140=) | |
5 | g.132313640C>T | CA360803863 | MIR3936HG,SLC22A4 | c.524C>T (p.Ala175Val) n.328C>T n.825-1387G>A c.-5C>T (n.-5C>T) c.420C>T (p.Arg140=) | |
5 | g.132313641A>C | CA446328495 | MIR3936HG,SLC22A4 | c.525A>C (p.Ala175=) n.329A>C n.825-1388T>G c.-4A>C (n.-4A>C) c.421A>C (p.Asn141His) | |
5 | g.132313641A>G | CA446328496 | MIR3936HG,SLC22A4 | c.525A>G (p.Ala175=) n.329A>G n.825-1388T>C c.-4A>G (n.-4A>G) c.421A>G (p.Asn141Asp) | |
5 | g.132313641A>T | CA446328497 | MIR3936HG,SLC22A4 | c.525A>T (p.Ala175=) n.329A>T n.825-1388T>A c.-4A>T (n.-4A>T) c.421A>T (p.Asn141Tyr) | |
5 | g.132313642A>C | CA360803865 | MIR3936HG,SLC22A4 | c.526A>C (p.Thr176Pro) n.330A>C n.825-1389T>G c.-3A>C (n.-3A>C) c.422A>C (p.Asn141Thr) | |
5 | g.132313642A>G | CA360803866 | MIR3936HG,SLC22A4 | c.526A>G (p.Thr176Ala) n.330A>G n.825-1389T>C c.-3A>G (n.-3A>G) c.422A>G (p.Asn141Ser) | |
5 | g.132313642A>T | CA360803867 | MIR3936HG,SLC22A4 | c.526A>T (p.Thr176Ser) n.330A>T n.825-1389T>A c.-3A>T (n.-3A>T) c.422A>T (p.Asn141Ile) | |
5 | g.132313643C>A | CA360803868 | MIR3936HG,SLC22A4 | c.527C>A (p.Thr176Asn) n.331C>A n.825-1390G>T c.-2C>A (n.-2C>A) c.423C>A (p.Asn141Lys) | |
5 | g.132313643C>G | CA360803869 | MIR3936HG,SLC22A4 | c.527C>G (p.Thr176Ser) n.331C>G n.825-1390G>C c.-2C>G (n.-2C>G) c.423C>G (p.Asn141Lys) | |
5 | g.132313643C>T | CA360803870 | MIR3936HG,SLC22A4 | c.527C>T (p.Thr176Ile) n.331C>T n.825-1390G>A c.-2C>T (n.-2C>T) c.423C>T (p.Asn141=) | gnomAD v4 |
5 | g.132313644C>A | CA446328506 | MIR3936HG,SLC22A4 | c.528C>A (p.Thr176=) n.332C>A n.825-1391G>T c.-1C>A (n.-1C>A) c.424C>A (p.His142Asn) | |
5 | g.132313644C= | CA1583118343 | MIR3936HG,SLC22A4 | c.528C= (p.Thr176=) n.332C= n.825-1391G= c.-1C= (n.-1C=) c.424C= (p.His142=) | |
5 | g.132313644C>G | CA446328504 | MIR3936HG,SLC22A4 | c.528C>G (p.Thr176=) n.332C>G n.825-1391G>C c.-1C>G (n.-1C>G) c.424C>G (p.His142Asp) | |
5 | g.132313644C>T | CA446328505 | MIR3936HG,SLC22A4 | c.528C>T (p.Thr176=) n.332C>T n.825-1391G>A c.-1C>T (n.-1C>T) c.424C>T (p.His142Tyr) | dbSNP |
5 | g.132313645A= | CA1583118346 | MIR3936HG,SLC22A4 | c.529A= (p.Met177=) n.333A= n.825-1392T= c.1A= (p.Met1=) c.425A= (p.His142=) | |
5 | g.132313645A>C | CA360803871 | MIR3936HG,SLC22A4 | c.529A>C (p.Met177Leu) n.333A>C n.825-1392T>G c.1A>C (p.Met1Leu) c.425A>C (p.His142Pro) | |
5 | g.132313645A>G | CA360803872 | MIR3936HG,SLC22A4 | c.529A>G (p.Met177Val) n.333A>G n.825-1392T>C c.1A>G (p.Met1Val) c.425A>G (p.His142Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132313645A>T | CA360803873 | MIR3936HG,SLC22A4 | c.529A>T (p.Met177Leu) n.333A>T n.825-1392T>A c.1A>T (p.Met1Leu) c.425A>T (p.His142Leu) | dbSNP |
5 | g.132313646T>A | CA360803874 | MIR3936HG,SLC22A4 | c.530T>A (p.Met177Lys) n.334T>A n.825-1393A>T c.2T>A (p.Met1Lys) c.426T>A (p.His142Gln) | |
5 | g.132313646T>C | CA360803875 | MIR3936HG,SLC22A4 | c.530T>C (p.Met177Thr) n.334T>C n.825-1393A>G c.2T>C (p.Met1Thr) c.426T>C (p.His142=) | |
5 | g.132313646T>G | CA360803876 | MIR3936HG,SLC22A4 | c.530T>G (p.Met177Arg) n.334T>G n.825-1393A>C c.2T>G (p.Met1Arg) c.426T>G (p.His142Gln) | |
5 | g.132313647G>A | CA360803879 | MIR3936HG,SLC22A4 | c.531G>A (p.Met177Ile) n.335G>A n.825-1394C>T c.3G>A (p.Met1Ile) c.427G>A (p.Gly143Ser) | |
5 | g.132313647G>C | CA360803878 | MIR3936HG,SLC22A4 | c.531G>C (p.Met177Ile) n.335G>C n.825-1394C>G c.3G>C (p.Met1Ile) c.427G>C (p.Gly143Arg) | |
5 | g.132313647G>T | CA360803877 | MIR3936HG,SLC22A4 | c.531G>T (p.Met177Ile) n.335G>T n.825-1394C>A c.3G>T (p.Met1Ile) c.427G>T (p.Gly143Cys) | |
5 | g.132313648G>A | CA360803880 | MIR3936HG,SLC22A4 | c.532G>A (p.Ala178Thr) n.336G>A n.825-1395C>T c.4G>A (p.Ala2Thr) c.428G>A (p.Gly143Asp) | gnomAD v4 |
5 | g.132313648G>C | CA360803881 | MIR3936HG,SLC22A4 | c.532G>C (p.Ala178Pro) n.336G>C n.825-1395C>G c.4G>C (p.Ala2Pro) c.428G>C (p.Gly143Ala) | |
5 | g.132313648G>T | CA360803882 | MIR3936HG,SLC22A4 | c.532G>T (p.Ala178Ser) n.336G>T n.825-1395C>A c.4G>T (p.Ala2Ser) c.428G>T (p.Gly143Val) | |
5 | g.132313649C>A | CA360803883 | MIR3936HG,SLC22A4 | c.533C>A (p.Ala178Asp) n.337C>A n.825-1396G>T c.5C>A (p.Ala2Asp) c.429C>A (p.Gly143=) | |
5 | g.132313649C>G | CA360803884 | MIR3936HG,SLC22A4 | c.533C>G (p.Ala178Gly) n.337C>G n.825-1396G>C c.5C>G (p.Ala2Gly) c.429C>G (p.Gly143=) | |
5 | g.132313649C>T | CA360803885 | MIR3936HG,SLC22A4 | c.533C>T (p.Ala178Val) n.337C>T n.825-1396G>A c.5C>T (p.Ala2Val) c.429C>T (p.Gly143=) | |
5 | g.132313650T>A | CA446328518 | MIR3936HG,SLC22A4 | c.534T>A (p.Ala178=) n.338T>A n.825-1397A>T c.6T>A (p.Ala2=) c.430T>A (p.Cys144Ser) | |
5 | g.132313650T>C | CA3403440 | MIR3936HG,SLC22A4 | c.534T>C (p.Ala178=) n.338T>C n.825-1397A>G c.6T>C (p.Ala2=) c.430T>C (p.Cys144Arg) | dbSNP ExAC gnomAD v2 |
5 | g.132313650T>G | CA446328521 | MIR3936HG,SLC22A4 | c.534T>G (p.Ala178=) n.338T>G n.825-1397A>C c.6T>G (p.Ala2=) c.430T>G (p.Cys144Gly) | gnomAD v4 |
5 | g.132313650T= | CA1583118352 | MIR3936HG,SLC22A4 | c.534T= (p.Ala178=) n.338T= n.825-1397A= c.6T= (p.Ala2=) c.430T= (p.Cys144=) | |
5 | g.132313651G>A | CA3403441 | MIR3936HG,SLC22A4 | c.535G>A (p.Val179Ile) n.339G>A n.825-1398C>T c.7G>A (p.Val3Ile) c.431G>A (p.Cys144Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132313651G>C | CA360803886 | MIR3936HG,SLC22A4 | c.535G>C (p.Val179Leu) n.339G>C n.825-1398C>G c.7G>C (p.Val3Leu) c.431G>C (p.Cys144Ser) | |
5 | g.132313651G= | CA1583118356 | MIR3936HG,SLC22A4 | c.535G= (p.Val179=) n.339G= n.825-1398C= c.7G= (p.Val3=) c.431G= (p.Cys144=) | |
5 | g.132313651G>T | CA360803887 | MIR3936HG,SLC22A4 | c.535G>T (p.Val179Leu) n.339G>T n.825-1398C>A c.7G>T (p.Val3Leu) c.431G>T (p.Cys144Phe) | gnomAD v4 |
5 | g.132313652T>A | CA360803888 | MIR3936HG,SLC22A4 | c.536T>A (p.Val179Glu) n.340T>A n.825-1399A>T c.8T>A (p.Val3Glu) c.432T>A (p.Cys144Ter) | |
5 | g.132313652T>C | CA360803889 | MIR3936HG,SLC22A4 | c.536T>C (p.Val179Ala) n.340T>C n.825-1399A>G c.8T>C (p.Val3Ala) c.432T>C (p.Cys144=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.132313652T>G | CA360803890 | MIR3936HG,SLC22A4 | c.536T>G (p.Val179Gly) n.340T>G n.825-1399A>C c.8T>G (p.Val3Gly) c.432T>G (p.Cys144Trp) | |
5 | g.132313652T= | CA1583118360 | MIR3936HG,SLC22A4 | c.536T= (p.Val179=) n.340T= n.825-1399A= c.8T= (p.Val3=) c.432T= (p.Cys144=) | |
5 | g.132313653A= | CA1583118362 | MIR3936HG,SLC22A4 | c.537A= (p.Val179=) n.341A= n.825-1400T= c.9A= (p.Val3=) c.433A= (p.Thr145=) | |
5 | g.132313653A>C | CA446328538 | MIR3936HG,SLC22A4 | c.537A>C (p.Val179=) n.341A>C n.825-1400T>G c.9A>C (p.Val3=) c.433A>C (p.Thr145Pro) | |
5 | g.132313653A>G | CA446328540 | MIR3936HG,SLC22A4 | c.537A>G (p.Val179=) n.341A>G n.825-1400T>C c.9A>G (p.Val3=) c.433A>G (p.Thr145Ala) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.132313653A>T | CA446328542 | MIR3936HG,SLC22A4 | c.537A>T (p.Val179=) n.341A>T n.825-1400T>A c.9A>T (p.Val3=) c.433A>T (p.Thr145Ser) | |
5 | g.132313654C>A | CA360803892 | MIR3936HG,SLC22A4 | c.538C>A (p.Gln180Lys) n.342C>A n.825-1401G>T c.10C>A (p.Gln4Lys) c.434C>A (p.Thr145Lys) | |
5 | g.132313654C>G | CA360803893 | MIR3936HG,SLC22A4 | c.538C>G (p.Gln180Glu) n.342C>G n.825-1401G>C c.10C>G (p.Gln4Glu) c.434C>G (p.Thr145Arg) | |
5 | g.132313654C>T | CA360803891 | MIR3936HG,SLC22A4 | c.538C>T (p.Gln180Ter) n.342C>T n.825-1401G>A c.10C>T (p.Gln4Ter) c.434C>T (p.Thr145Ile) | |
5 | g.132313655A>C | CA360803894 | MIR3936HG,SLC22A4 | c.539A>C (p.Gln180Pro) n.343A>C n.825-1402T>G c.11A>C (p.Gln4Pro) c.435A>C (p.Thr145=) | |
5 | g.132313655A>G | CA360803896 | MIR3936HG,SLC22A4 | c.539A>G (p.Gln180Arg) n.343A>G n.825-1402T>C c.11A>G (p.Gln4Arg) c.435A>G (p.Thr145=) | |
5 | g.132313655A>T | CA360803895 | MIR3936HG,SLC22A4 | c.539A>T (p.Gln180Leu) n.343A>T n.825-1402T>A c.11A>T (p.Gln4Leu) c.435A>T (p.Thr145=) | |
5 | g.132313656G>A | CA446328552 | MIR3936HG,SLC22A4 | c.540G>A (p.Gln180=) n.344G>A n.825-1403C>T c.12G>A (p.Gln4=) c.436G>A (p.Asp146Asn) | gnomAD v4 |
5 | g.132313656G>C | CA127189415 | MIR3936HG,SLC22A4 | c.540G>C (p.Gln180His) n.344G>C n.825-1403C>G c.12G>C (p.Gln4His) c.436G>C (p.Asp146His) | dbSNP |
5 | g.132313656G= | CA1583118368 | MIR3936HG,SLC22A4 | c.540G= (p.Gln180=) n.344G= n.825-1403C= c.12G= (p.Gln4=) c.436G= (p.Asp146=) | |
5 | g.132313656G>T | CA360803897 | MIR3936HG,SLC22A4 | c.540G>T (p.Gln180His) n.344G>T n.825-1403C>A c.12G>T (p.Gln4His) c.436G>T (p.Asp146Tyr) | |
5 | g.132313657A>C | CA360803898 | MIR3936HG,SLC22A4 | c.541A>C (p.Thr181Pro) n.345A>C n.825-1404T>G c.13A>C (p.Thr5Pro) c.437A>C (p.Asp146Ala) | |
5 | g.132313657A>G | CA360803899 | MIR3936HG,SLC22A4 | c.541A>G (p.Thr181Ala) n.345A>G n.825-1404T>C c.13A>G (p.Thr5Ala) c.437A>G (p.Asp146Gly) | |
5 | g.132313657A>T | CA360803900 | MIR3936HG,SLC22A4 | c.541A>T (p.Thr181Ser) n.345A>T n.825-1404T>A c.13A>T (p.Thr5Ser) c.437A>T (p.Asp146Val) | gnomAD v4 |
5 | g.132313658C>A | CA360803901 | MIR3936HG,SLC22A4 | c.542C>A (p.Thr181Asn) n.346C>A n.825-1405G>T c.14C>A (p.Thr5Asn) c.438C>A (p.Asp146Glu) | |
5 | g.132313658C>G | CA360803902 | MIR3936HG,SLC22A4 | c.542C>G (p.Thr181Ser) n.346C>G n.825-1405G>C c.14C>G (p.Thr5Ser) c.438C>G (p.Asp146Glu) | |
5 | g.132313658C>T | CA360803903 | MIR3936HG,SLC22A4 | c.542C>T (p.Thr181Ile) n.346C>T n.825-1405G>A c.14C>T (p.Thr5Ile) c.438C>T (p.Asp146=) | |
5 | g.132313659T>A | CA446328570 | MIR3936HG,SLC22A4 | c.543T>A (p.Thr181=) n.347T>A n.825-1406A>T c.15T>A (p.Thr5=) c.439T>A (p.Trp147Arg) | |
5 | g.132313659T>C | CA446328573 | MIR3936HG,SLC22A4 | c.543T>C (p.Thr181=) n.347T>C n.825-1406A>G c.15T>C (p.Thr5=) c.439T>C (p.Trp147Arg) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.132313659T>G | CA446328575 | MIR3936HG,SLC22A4 | c.543T>G (p.Thr181=) n.347T>G n.825-1406A>C c.15T>G (p.Thr5=) c.439T>G (p.Trp147Gly) | |
5 | g.132313660G>A | CA360803904 | MIR3936HG,SLC22A4 | c.544G>A (p.Gly182Ser) n.348G>A n.825-1407C>T c.16G>A (p.Gly6Ser) c.440G>A (p.Trp147Ter) | |
5 | g.132313660G>C | CA360803905 | MIR3936HG,SLC22A4 | c.544G>C (p.Gly182Arg) n.348G>C n.825-1407C>G c.16G>C (p.Gly6Arg) c.440G>C (p.Trp147Ser) | |
5 | g.132313660G>T | CA360803906 | MIR3936HG,SLC22A4 | c.544G>T (p.Gly182Cys) n.348G>T n.825-1407C>A c.16G>T (p.Gly6Cys) c.440G>T (p.Trp147Leu) | |
5 | g.132313661G>A | CA3403442 | MIR3936HG,SLC22A4 | c.545G>A (p.Gly182Asp) n.349G>A n.825-1408C>T c.17G>A (p.Gly6Asp) c.441G>A (p.Trp147Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132313661G>C | CA360803908 | MIR3936HG,SLC22A4 | c.545G>C (p.Gly182Ala) n.349G>C n.825-1408C>G c.17G>C (p.Gly6Ala) c.441G>C (p.Trp147Cys) | |
5 | g.132313661G= | CA1583118375 | MIR3936HG,SLC22A4 | c.545G= (p.Gly182=) n.349G= n.825-1408C= c.17G= (p.Gly6=) c.441G= (p.Trp147=) | |
5 | g.132313661G>T | CA360803907 | MIR3936HG,SLC22A4 | c.545G>T (p.Gly182Val) n.349G>T n.825-1408C>A c.17G>T (p.Gly6Val) c.441G>T (p.Trp147Cys) | |
5 | g.132313662C>A | CA446328590 | MIR3936HG,SLC22A4 | c.546C>A (p.Gly182=) n.350C>A n.825-1409G>T c.18C>A (p.Gly6=) c.442C>A (p.Leu148Ile) | |
5 | g.132313662C>G | CA446328592 | MIR3936HG,SLC22A4 | c.546C>G (p.Gly182=) n.350C>G n.825-1409G>C c.18C>G (p.Gly6=) c.442C>G (p.Leu148Val) | |
5 | g.132313662C>T | CA446328594 | MIR3936HG,SLC22A4 | c.546C>T (p.Gly182=) n.350C>T n.825-1409G>A c.18C>T (p.Gly6=) c.442C>T (p.Leu148Phe) | |
5 | g.132313663T>A | CA360803909 | MIR3936HG,SLC22A4 | c.547T>A (p.Phe183Ile) n.351T>A n.825-1410A>T c.19T>A (p.Phe7Ile) c.443T>A (p.Leu148His) | |
5 | g.132313663T>C | CA360803910 | MIR3936HG,SLC22A4 | c.547T>C (p.Phe183Leu) n.351T>C n.825-1410A>G c.19T>C (p.Phe7Leu) c.443T>C (p.Leu148Pro) | |
5 | g.132313663T>G | CA360803911 | MIR3936HG,SLC22A4 | c.547T>G (p.Phe183Val) n.351T>G n.825-1410A>C c.19T>G (p.Phe7Val) c.443T>G (p.Leu148Arg) | |
5 | g.132313664T>A | CA360803912 | MIR3936HG,SLC22A4 | c.548T>A (p.Phe183Tyr) n.352T>A n.825-1411A>T c.20T>A (p.Phe7Tyr) c.444T>A (p.Leu148=) | |
5 | g.132313664T>C | CA360803913 | MIR3936HG,SLC22A4 | c.548T>C (p.Phe183Ser) n.352T>C n.825-1411A>G c.20T>C (p.Phe7Ser) c.444T>C (p.Leu148=) | |
5 | g.132313664T>G | CA360803914 | MIR3936HG,SLC22A4 | c.548T>G (p.Phe183Cys) n.352T>G n.825-1411A>C c.20T>G (p.Phe7Cys) c.444T>G (p.Leu148=) | |
5 | g.132313665C>A | CA360803915 | MIR3936HG,SLC22A4 | c.549C>A (p.Phe183Leu) n.353C>A n.825-1412G>T c.21C>A (p.Phe7Leu) c.445C>A (p.Gln149Lys) | |
5 | g.132313665C= | CA1583118378 | MIR3936HG,SLC22A4 | c.549C= (p.Phe183=) n.353C= n.825-1412G= c.21C= (p.Phe7=) c.445C= (p.Gln149=) | |
5 | g.132313665C>G | CA360803916 | MIR3936HG,SLC22A4 | c.549C>G (p.Phe183Leu) n.353C>G n.825-1412G>C c.21C>G (p.Phe7Leu) c.445C>G (p.Gln149Glu) | |
5 | g.132313665C>T | CA446328606 | MIR3936HG,SLC22A4 | c.549C>T (p.Phe183=) n.353C>T n.825-1412G>A c.21C>T (p.Phe7=) c.445C>T (p.Gln149Ter) | dbSNP gnomAD v2 |
5 | g.132313666A>C | CA360803917 | MIR3936HG,SLC22A4 | c.550A>C (p.Ser184Arg) n.354A>C n.825-1413T>G c.22A>C (p.Ser8Arg) c.446A>C (p.Gln149Pro) | |
5 | g.132313666A>G | CA360803918 | MIR3936HG,SLC22A4 | c.550A>G (p.Ser184Gly) n.354A>G n.825-1413T>C c.22A>G (p.Ser8Gly) c.446A>G (p.Gln149Arg) | gnomAD v4 |
5 | g.132313666A>T | CA360803919 | MIR3936HG,SLC22A4 | c.550A>T (p.Ser184Cys) n.354A>T n.825-1413T>A c.22A>T (p.Ser8Cys) c.446A>T (p.Gln149Leu) | gnomAD v4 |
5 | g.132313667G>A | CA360803922 | MIR3936HG,SLC22A4 | c.551G>A (p.Ser184Asn) n.355G>A n.825-1414C>T c.23G>A (p.Ser8Asn) c.447G>A (p.Gln149=) | |
5 | g.132313667G>C | CA360803921 | MIR3936HG,SLC22A4 | c.551G>C (p.Ser184Thr) n.355G>C n.825-1414C>G c.23G>C (p.Ser8Thr) c.447G>C (p.Gln149His) | |
5 | g.132313667G>T | CA360803920 | MIR3936HG,SLC22A4 | c.551G>T (p.Ser184Ile) n.355G>T n.825-1414C>A c.23G>T (p.Ser8Ile) c.447G>T (p.Gln149His) | |
5 | g.132313668C>A | CA360803923 | MIR3936HG,SLC22A4 | c.552C>A (p.Ser184Arg) n.356C>A n.825-1415G>T c.24C>A (p.Ser8Arg) c.448C>A (p.Leu150Ile) | |
5 | g.132313668C>G | CA360803924 | MIR3936HG,SLC22A4 | c.552C>G (p.Ser184Arg) n.356C>G n.825-1415G>C c.24C>G (p.Ser8Arg) c.448C>G (p.Leu150Val) | |
5 | g.132313668C>T | CA446328614 | MIR3936HG,SLC22A4 | c.552C>T (p.Ser184=) n.356C>T n.825-1415G>A c.24C>T (p.Ser8=) c.448C>T (p.Leu150Phe) | |
5 | g.132313669T>A | CA360803925 | MIR3936HG,SLC22A4 | c.553T>A (p.Phe185Ile) n.357T>A n.825-1416A>T c.25T>A (p.Phe9Ile) c.449T>A (p.Leu150His) | |
5 | g.132313669T>C | CA360803926 | MIR3936HG,SLC22A4 | c.553T>C (p.Phe185Leu) n.357T>C n.825-1416A>G c.25T>C (p.Phe9Leu) c.449T>C (p.Leu150Pro) | |
5 | g.132313669T>G | CA360803927 | MIR3936HG,SLC22A4 | c.553T>G (p.Phe185Val) n.357T>G n.825-1416A>C c.25T>G (p.Phe9Val) c.449T>G (p.Leu150Arg) | |
5 | g.132313670T>A | CA360803928 | MIR3936HG,SLC22A4 | c.554T>A (p.Phe185Tyr) n.358T>A n.825-1417A>T c.26T>A (p.Phe9Tyr) c.450T>A (p.Leu150=) | |
5 | g.132313670T>C | CA360803929 | MIR3936HG,SLC22A4 | c.554T>C (p.Phe185Ser) n.358T>C n.825-1417A>G c.26T>C (p.Phe9Ser) c.450T>C (p.Leu150=) | |
5 | g.132313670T>G | CA360803930 | MIR3936HG,SLC22A4 | c.554T>G (p.Phe185Cys) n.358T>G n.825-1417A>C c.26T>G (p.Phe9Cys) c.450T>G (p.Leu150=) | |
5 | g.132313671C>A | CA360803931 | MIR3936HG,SLC22A4 | c.555C>A (p.Phe185Leu) n.359C>A n.825-1418G>T c.27C>A (p.Phe9Leu) c.451C>A (p.Pro151Thr) | |
5 | g.132313671C= | CA1583118380 | MIR3936HG,SLC22A4 | c.555C= (p.Phe185=) n.359C= n.825-1418G= c.27C= (p.Phe9=) c.451C= (p.Pro151=) | |
5 | g.132313671C>G | CA360803932 | MIR3936HG,SLC22A4 | c.555C>G (p.Phe185Leu) n.359C>G n.825-1418G>C c.27C>G (p.Phe9Leu) c.451C>G (p.Pro151Ala) | |
5 | g.132313671C>T | CA127189432 | MIR3936HG,SLC22A4 | c.555C>T (p.Phe185=) n.359C>T n.825-1418G>A c.27C>T (p.Phe9=) c.451C>T (p.Pro151Ser) | dbSNP |
5 | g.132313672C>A | CA360803933 | MIR3936HG,SLC22A4 | c.556C>A (p.Leu186Met) n.360C>A n.825-1419G>T c.28C>A (p.Leu10Met) c.452C>A (p.Pro151His) | |
5 | g.132313672C>G | CA360803934 | MIR3936HG,SLC22A4 | c.556C>G (p.Leu186Val) n.360C>G n.825-1419G>C c.28C>G (p.Leu10Val) c.452C>G (p.Pro151Arg) | |
5 | g.132313672C>T | CA446328629 | MIR3936HG,SLC22A4 | c.556C>T (p.Leu186=) n.360C>T n.825-1419G>A c.28C>T (p.Leu10=) c.452C>T (p.Pro151Leu) | |
5 | g.132313673T>A | CA360803937 | MIR3936HG,SLC22A4 | c.557T>A (p.Leu186Gln) n.361T>A n.825-1420A>T c.29T>A (p.Leu10Gln) c.453T>A (p.Pro151=) | |
5 | g.132313673T>C | CA360803935 | MIR3936HG,SLC22A4 | c.557T>C (p.Leu186Pro) n.361T>C n.825-1420A>G c.29T>C (p.Leu10Pro) c.453T>C (p.Pro151=) | |
5 | g.132313673T>G | CA360803936 | MIR3936HG,SLC22A4 | c.557T>G (p.Leu186Arg) n.361T>G n.825-1420A>C c.29T>G (p.Leu10Arg) c.453T>G (p.Pro151=) | |
5 | g.132313674G>A | CA446328636 | MIR3936HG,SLC22A4 | c.558G>A (p.Leu186=) n.362G>A n.825-1421C>T c.30G>A (p.Leu10=) c.454G>A (p.Ala152Thr) | |
5 | g.132313674G>C | CA446328637 | MIR3936HG,SLC22A4 | c.558G>C (p.Leu186=) n.362G>C n.825-1421C>G c.30G>C (p.Leu10=) c.454G>C (p.Ala152Pro) | ClinVar dbSNP gnomAD v4 |
5 | g.132313674G= | CA1583118383 | MIR3936HG,SLC22A4 | c.558G= (p.Leu186=) n.362G= n.825-1421C= c.30G= (p.Leu10=) c.454G= (p.Ala152=) | |
5 | g.132313674G>T | CA446328638 | MIR3936HG,SLC22A4 | c.558G>T (p.Leu186=) n.362G>T n.825-1421C>A c.30G>T (p.Leu10=) c.454G>T (p.Ala152Ser) | COSMIC |
5 | g.132313675C>A | CA360803938 | MIR3936HG,SLC22A4 | c.559C>A (p.Gln187Lys) n.363C>A n.825-1422G>T c.31C>A (p.Gln11Lys) c.455C>A (p.Ala152Glu) | |
5 | g.132313675C>G | CA360803939 | MIR3936HG,SLC22A4 | c.559C>G (p.Gln187Glu) n.363C>G n.825-1422G>C c.31C>G (p.Gln11Glu) c.455C>G (p.Ala152Gly) | |
5 | g.132313675C>T | CA360803940 | MIR3936HG,SLC22A4 | c.559C>T (p.Gln187Ter) n.363C>T n.825-1422G>A c.31C>T (p.Gln11Ter) c.455C>T (p.Ala152Val) | |
5 | g.132313676A>C | CA360803941 | MIR3936HG,SLC22A4 | c.560A>C (p.Gln187Pro) n.364A>C n.825-1423T>G c.32A>C (p.Gln11Pro) c.456A>C (p.Ala152=) | |
5 | g.132313676A>G | CA360803942 | MIR3936HG,SLC22A4 | c.560A>G (p.Gln187Arg) n.364A>G n.825-1423T>C c.32A>G (p.Gln11Arg) c.456A>G (p.Ala152=) | |
5 | g.132313676A>T | CA360803943 | MIR3936HG,SLC22A4 | c.560A>T (p.Gln187Leu) n.364A>T n.825-1423T>A c.32A>T (p.Gln11Leu) c.456A>T (p.Ala152=) | |
5 | g.132313677G>A | CA446328647 | MIR3936HG,SLC22A4 | c.561G>A (p.Gln187=) n.365G>A n.825-1424C>T c.33G>A (p.Gln11=) c.457G>A (p.Asp153Asn) | |
5 | g.132313677G>C | CA360803944 | MIR3936HG,SLC22A4 | c.561G>C (p.Gln187His) n.365G>C n.825-1424C>G c.33G>C (p.Gln11His) c.457G>C (p.Asp153His) | |
5 | g.132313677G= | CA1583118386 | MIR3936HG,SLC22A4 | c.561G= (p.Gln187=) n.365G= n.825-1424C= c.33G= (p.Gln11=) c.457G= (p.Asp153=) | |
5 | g.132313677G>T | CA360803945 | MIR3936HG,SLC22A4 | c.561G>T (p.Gln187His) n.365G>T n.825-1424C>A c.33G>T (p.Gln11His) c.457G>T (p.Asp153Tyr) | dbSNP |
5 | g.132313678A>C | CA360803946 | MIR3936HG,SLC22A4 | c.562A>C (p.Ile188Leu) n.366A>C n.825-1425T>G c.34A>C (p.Ile12Leu) c.458A>C (p.Asp153Ala) | |
5 | g.132313678A>G | CA360803947 | MIR3936HG,SLC22A4 | c.562A>G (p.Ile188Val) n.366A>G n.825-1425T>C c.34A>G (p.Ile12Val) c.458A>G (p.Asp153Gly) | |
5 | g.132313678A>T | CA360803948 | MIR3936HG,SLC22A4 | c.562A>T (p.Ile188Phe) n.366A>T n.825-1425T>A c.34A>T (p.Ile12Phe) c.458A>T (p.Asp153Val) | |
5 | g.132313679T>A | CA360803951 | MIR3936HG,SLC22A4 | c.563T>A (p.Ile188Asn) n.367T>A n.825-1426A>T c.35T>A (p.Ile12Asn) c.459T>A (p.Asp153Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132313679T>C | CA360803950 | MIR3936HG,SLC22A4 | c.563T>C (p.Ile188Thr) n.367T>C n.825-1426A>G c.35T>C (p.Ile12Thr) c.459T>C (p.Asp153=) | |
5 | g.132313679T>G | CA360803949 | MIR3936HG,SLC22A4 | c.563T>G (p.Ile188Ser) n.367T>G n.825-1426A>C c.35T>G (p.Ile12Ser) c.459T>G (p.Asp153Glu) | |
5 | g.132313679T= | CA1583118388 | MIR3936HG,SLC22A4 | c.563T= (p.Ile188=) n.367T= n.825-1426A= c.35T= (p.Ile12=) c.459T= (p.Asp153=) | |
5 | g.132313680T>A | CA446328655 | MIR3936HG,SLC22A4 | c.564T>A (p.Ile188=) n.368T>A n.825-1427A>T c.36T>A (p.Ile12=) c.460T>A (p.Phe154Ile) | |
5 | g.132313680T>C | CA446328656 | MIR3936HG,SLC22A4 | c.564T>C (p.Ile188=) n.368T>C n.825-1427A>G c.36T>C (p.Ile12=) c.460T>C (p.Phe154Leu) | |
5 | g.132313680T>G | CA360803952 | MIR3936HG,SLC22A4 | c.564T>G (p.Ile188Met) n.368T>G n.825-1427A>C c.36T>G (p.Ile12Met) c.460T>G (p.Phe154Val) | |
5 | g.132313681T>A | CA360803954 | MIR3936HG,SLC22A4 | c.565T>A (p.Phe189Ile) n.369T>A n.825-1428A>T c.37T>A (p.Phe13Ile) c.461T>A (p.Phe154Tyr) | |
5 | g.132313681T>C | CA3403443 | MIR3936HG,SLC22A4 | c.565T>C (p.Phe189Leu) n.369T>C n.825-1428A>G c.37T>C (p.Phe13Leu) c.461T>C (p.Phe154Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.132313681T>G | CA360803953 | MIR3936HG,SLC22A4 | c.565T>G (p.Phe189Val) n.369T>G n.825-1428A>C c.37T>G (p.Phe13Val) c.461T>G (p.Phe154Cys) | |
5 | g.132313681T= | CA1583118391 | MIR3936HG,SLC22A4 | c.565T= (p.Phe189=) n.369T= n.825-1428A= c.37T= (p.Phe13=) c.461T= (p.Phe154=) | |
5 | g.132313682T>A | CA360803955 | MIR3936HG,SLC22A4 | c.566T>A (p.Phe189Tyr) n.370T>A n.825-1429A>T c.38T>A (p.Phe13Tyr) c.462T>A (p.Phe154Leu) | |
5 | g.132313682T>C | CA360803956 | MIR3936HG,SLC22A4 | c.566T>C (p.Phe189Ser) n.370T>C n.825-1429A>G c.38T>C (p.Phe13Ser) c.462T>C (p.Phe154=) | dbSNP |
5 | g.132313682T>G | CA360803957 | MIR3936HG,SLC22A4 | c.566T>G (p.Phe189Cys) n.370T>G n.825-1429A>C c.38T>G (p.Phe13Cys) c.462T>G (p.Phe154Leu) | |
5 | g.132313682T= | CA1583118393 | MIR3936HG,SLC22A4 | c.566T= (p.Phe189=) n.370T= n.825-1429A= c.38T= (p.Phe13=) c.462T= (p.Phe154=) | |
5 | g.132313683C>A | CA360803959 | MIR3936HG,SLC22A4 | c.567C>A (p.Phe189Leu) n.371C>A n.825-1430G>T c.39C>A (p.Phe13Leu) c.463C>A (p.Leu155Ile) | |
5 | g.132313683C= | CA1583118397 | MIR3936HG,SLC22A4 | c.567C= (p.Phe189=) n.371C= n.825-1430G= c.39C= (p.Phe13=) c.463C= (p.Leu155=) | |
5 | g.132313683C>G | CA360803958 | MIR3936HG,SLC22A4 | c.567C>G (p.Phe189Leu) n.371C>G n.825-1430G>C c.39C>G (p.Phe13Leu) c.463C>G (p.Leu155Val) | |
5 | g.132313683C>T | CA3403444 | MIR3936HG,SLC22A4 | c.567C>T (p.Phe189=) n.371C>T n.825-1430G>A c.39C>T (p.Phe13=) c.463C>T (p.Leu155Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.132313684T>A | CA360803960 | MIR3936HG,SLC22A4 | c.568T>A (p.Ser190Thr) n.372T>A n.825-1431A>T c.40T>A (p.Ser14Thr) c.464T>A (p.Leu155His) | |
5 | g.132313684T>C | CA360803961 | MIR3936HG,SLC22A4 | c.568T>C (p.Ser190Pro) n.372T>C n.825-1431A>G c.40T>C (p.Ser14Pro) c.464T>C (p.Leu155Pro) | |
5 | g.132313684T>G | CA360803962 | MIR3936HG,SLC22A4 | c.568T>G (p.Ser190Ala) n.372T>G n.825-1431A>C c.40T>G (p.Ser14Ala) c.464T>G (p.Leu155Arg) | |
5 | g.132313685C>A | CA360803963 | MIR3936HG,SLC22A4 | c.569C>A (p.Ser190Tyr) n.373C>A n.825-1432G>T c.41C>A (p.Ser14Tyr) c.465C>A (p.Leu155=) | |
5 | g.132313685C= | CA1583118402 | MIR3936HG,SLC22A4 | c.569C= (p.Ser190=) n.373C= n.825-1432G= c.41C= (p.Ser14=) c.465C= (p.Leu155=) | |
5 | g.132313685C>G | CA3403445 | MIR3936HG,SLC22A4 | c.569C>G (p.Ser190Cys) n.373C>G n.825-1432G>C c.41C>G (p.Ser14Cys) c.465C>G (p.Leu155=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.132313685C>T | CA360803964 | MIR3936HG,SLC22A4 | c.569C>T (p.Ser190Phe) n.373C>T n.825-1432G>A c.41C>T (p.Ser14Phe) c.465C>T (p.Leu155=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.132313686C>A | CA446328676 | MIR3936HG,SLC22A4 | c.570C>A (p.Ser190=) n.374C>A n.825-1433G>T c.42C>A (p.Ser14=) c.466C>A (p.His156Asn) | |
5 | g.132313686C>G | CA446328677 | MIR3936HG,SLC22A4 | c.570C>G (p.Ser190=) n.374C>G n.825-1433G>C c.42C>G (p.Ser14=) c.466C>G (p.His156Asp) | |
5 | g.132313686C>T | CA446328674 | MIR3936HG,SLC22A4 | c.570C>T (p.Ser190=) n.374C>T n.825-1433G>A c.42C>T (p.Ser14=) c.466C>T (p.His156Tyr) | |
5 | g.132313687A>C | CA360803967 | MIR3936HG,SLC22A4 | c.571A>C (p.Ile191Leu) n.375A>C n.825-1434T>G c.43A>C (p.Ile15Leu) c.467A>C (p.His156Pro) | |
5 | g.132313687A>G | CA360803965 | MIR3936HG,SLC22A4 | c.571A>G (p.Ile191Val) n.375A>G n.825-1434T>C c.43A>G (p.Ile15Val) c.467A>G (p.His156Arg) | |
5 | g.132313687A>T | CA360803966 | MIR3936HG,SLC22A4 | c.571A>T (p.Ile191Phe) n.375A>T n.825-1434T>A c.43A>T (p.Ile15Phe) c.467A>T (p.His156Leu) | |
5 | g.132313688T>A | CA360803968 | MIR3936HG,SLC22A4 | c.572T>A (p.Ile191Asn) n.376T>A n.825-1435A>T c.44T>A (p.Ile15Asn) c.468T>A (p.His156Gln) | dbSNP |
5 | g.132313688T>C | CA360803969 | MIR3936HG,SLC22A4 | c.572T>C (p.Ile191Thr) n.376T>C n.825-1435A>G c.44T>C (p.Ile15Thr) c.468T>C (p.His156=) | dbSNP |
5 | g.132313688T>G | CA360803970 | MIR3936HG,SLC22A4 | c.572T>G (p.Ile191Ser) n.376T>G n.825-1435A>C c.44T>G (p.Ile15Ser) c.468T>G (p.His156Gln) | |
5 | g.132313688T= | CA1583118407 | MIR3936HG,SLC22A4 | c.572T= (p.Ile191=) n.376T= n.825-1435A= c.44T= (p.Ile15=) c.468T= (p.His156=) | |
5 | g.132313689C>A | CA446328678 | MIR3936HG,SLC22A4 | c.573C>A (p.Ile191=) n.377C>A n.825-1436G>T c.45C>A (p.Ile15=) c.469C>A (p.Gln157Lys) | |
5 | g.132313689C= | CA1583118413 | MIR3936HG,SLC22A4 | c.573C= (p.Ile191=) n.377C= n.825-1436G= c.45C= (p.Ile15=) c.469C= (p.Gln157=) | |
5 | g.132313689C>G | CA360803971 | MIR3936HG,SLC22A4 | c.573C>G (p.Ile191Met) n.377C>G n.825-1436G>C c.45C>G (p.Ile15Met) c.469C>G (p.Gln157Glu) | |
5 | g.132313689C>T | CA3403446 | MIR3936HG,SLC22A4 | c.573C>T (p.Ile191=) n.377C>T n.825-1436G>A c.45C>T (p.Ile15=) c.469C>T (p.Gln157Ter) | dbSNP ExAC gnomAD v2 |
5 | g.132313690A>C | CA360803972 | MIR3936HG,SLC22A4 | c.574A>C (p.Ser192Arg) n.378A>C n.825-1437T>G c.46A>C (p.Ser16Arg) c.470A>C (p.Gln157Pro) | |
5 | g.132313690A>G | CA360803973 | MIR3936HG,SLC22A4 | c.574A>G (p.Ser192Gly) n.378A>G n.825-1437T>C c.46A>G (p.Ser16Gly) c.470A>G (p.Gln157Arg) | gnomAD v4 |
5 | g.132313690A>T | CA360803974 | MIR3936HG,SLC22A4 | c.574A>T (p.Ser192Cys) n.378A>T n.825-1437T>A c.46A>T (p.Ser16Cys) c.470A>T (p.Gln157Leu) | |
5 | g.132313691G>A | CA360803975 | MIR3936HG,SLC22A4 | c.575G>A (p.Ser192Asn) n.379G>A n.825-1438C>T c.47G>A (p.Ser16Asn) c.471G>A (p.Gln157=) | |
5 | g.132313691G>C | CA360803976 | MIR3936HG,SLC22A4 | c.575G>C (p.Ser192Thr) n.379G>C n.825-1438C>G c.47G>C (p.Ser16Thr) c.471G>C (p.Gln157His) | |
5 | g.132313691G= | CA1583118416 | MIR3936HG,SLC22A4 | c.575G= (p.Ser192=) n.379G= n.825-1438C= c.47G= (p.Ser16=) c.471G= (p.Gln157=) | |
5 | g.132313691G>T | CA360803977 | MIR3936HG,SLC22A4 | c.575G>T (p.Ser192Ile) n.379G>T n.825-1438C>A c.47G>T (p.Ser16Ile) c.471G>T (p.Gln157His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132313692C>A | CA360803978 | MIR3936HG,SLC22A4 | c.576C>A (p.Ser192Arg) n.380C>A n.825-1439G>T c.48C>A (p.Ser16Arg) c.472C>A (p.Leu158Met) | |
5 | g.132313692C= | CA1583118419 | MIR3936HG,SLC22A4 | c.576C= (p.Ser192=) n.380C= n.825-1439G= c.48C= (p.Ser16=) c.472C= (p.Leu158=) | |
5 | g.132313692C>G | CA360803979 | MIR3936HG,SLC22A4 | c.576C>G (p.Ser192Arg) n.380C>G n.825-1439G>C c.48C>G (p.Ser16Arg) c.472C>G (p.Leu158Val) | |
5 | g.132313692C>T | CA446328685 | MIR3936HG,SLC22A4 | c.576C>T (p.Ser192=) n.380C>T n.825-1439G>A c.48C>T (p.Ser16=) c.472C>T (p.Leu158=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132313693T>A | CA360803980 | MIR3936HG,SLC22A4 | c.577T>A (p.Trp193Arg) n.381T>A n.825-1440A>T c.49T>A (p.Trp17Arg) c.473T>A (p.Leu158Gln) | |
5 | g.132313693T>C | CA360803982 | MIR3936HG,SLC22A4 | c.577T>C (p.Trp193Arg) n.381T>C n.825-1440A>G c.49T>C (p.Trp17Arg) c.473T>C (p.Leu158Pro) | |
5 | g.132313693T>G | CA360803981 | MIR3936HG,SLC22A4 | c.577T>G (p.Trp193Gly) n.381T>G n.825-1440A>C c.49T>G (p.Trp17Gly) c.473T>G (p.Leu158Arg) | |
5 | g.132313694G>A | CA360803983 | MIR3936HG,SLC22A4 | c.578G>A (p.Trp193Ter) n.382G>A n.825-1441C>T c.50G>A (p.Trp17Ter) c.474G>A (p.Leu158=) | gnomAD v4 |
5 | g.132313694G>C | CA360803984 | MIR3936HG,SLC22A4 | c.578G>C (p.Trp193Ser) n.382G>C n.825-1441C>G c.50G>C (p.Trp17Ser) c.474G>C (p.Leu158=) | |
5 | g.132313694G>T | CA360803985 | MIR3936HG,SLC22A4 | c.578G>T (p.Trp193Leu) n.382G>T n.825-1441C>A c.50G>T (p.Trp17Leu) c.474G>T (p.Leu158=) | |
5 | g.132313695G>A | CA360803986 | MIR3936HG,SLC22A4 | c.579G>A (p.Trp193Ter) n.383G>A n.825-1442C>T c.51G>A (p.Trp17Ter) c.475G>A (p.Gly159Arg) | |
5 | g.132313695G>C | CA360803987 | MIR3936HG,SLC22A4 | c.579G>C (p.Trp193Cys) n.383G>C n.825-1442C>G c.51G>C (p.Trp17Cys) c.475G>C (p.Gly159Arg) | |
5 | g.132313695G>T | CA360803988 | MIR3936HG,SLC22A4 | c.579G>T (p.Trp193Cys) n.383G>T n.825-1442C>A c.51G>T (p.Trp17Cys) c.475G>T (p.Gly159Ter) | |
5 | g.132313696G>A | CA360803989 | MIR3936HG,SLC22A4 | c.580G>A (p.Glu194Lys) n.384G>A n.825-1443C>T c.52G>A (p.Glu18Lys) c.476G>A (p.Gly159Glu) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.132313696G>C | CA360803990 | MIR3936HG,SLC22A4 | c.580G>C (p.Glu194Gln) n.384G>C n.825-1443C>G c.52G>C (p.Glu18Gln) c.476G>C (p.Gly159Ala) | |
5 | g.132313696G= | CA1583118421 | MIR3936HG,SLC22A4 | c.580G= (p.Glu194=) n.384G= n.825-1443C= c.52G= (p.Glu18=) c.476G= (p.Gly159=) | |
5 | g.132313696G>T | CA360803991 | MIR3936HG,SLC22A4 | c.580G>T (p.Glu194Ter) n.384G>T n.825-1443C>A c.52G>T (p.Glu18Ter) c.476G>T (p.Gly159Val) | |
5 | g.132313697A>C | CA360803992 | MIR3936HG,SLC22A4 | c.581A>C (p.Glu194Ala) n.385A>C n.825-1444T>G c.53A>C (p.Glu18Ala) c.477A>C (p.Gly159=) | |
5 | g.132313697A>G | CA360803993 | MIR3936HG,SLC22A4 | c.581A>G (p.Glu194Gly) n.385A>G n.825-1444T>C c.53A>G (p.Glu18Gly) c.477A>G (p.Gly159=) | |
5 | g.132313697A>T | CA360803994 | MIR3936HG,SLC22A4 | c.581A>T (p.Glu194Val) n.385A>T n.825-1444T>A c.53A>T (p.Glu18Val) c.477A>T (p.Gly159=) | |
5 | g.132313698G>A | CA446328699 | MIR3936HG,SLC22A4 | c.582G>A (p.Glu194=) n.386G>A n.825-1445C>T c.54G>A (p.Glu18=) c.478G>A (p.Asp160Asn) | |
5 | g.132313698G>C | CA360803996 | MIR3936HG,SLC22A4 | c.582G>C (p.Glu194Asp) n.386G>C n.825-1445C>G c.54G>C (p.Glu18Asp) c.478G>C (p.Asp160His) | |
5 | g.132313698G>T | CA360803995 | MIR3936HG,SLC22A4 | c.582G>T (p.Glu194Asp) n.386G>T n.825-1445C>A c.54G>T (p.Glu18Asp) c.478G>T (p.Asp160Tyr) | |
5 | g.132313699A>C | CA360803997 | MIR3936HG,SLC22A4 | c.583A>C (p.Met195Leu) n.387A>C n.825-1446T>G c.55A>C (p.Met19Leu) c.479A>C (p.Asp160Ala) | |
5 | g.132313699A>G | CA360803998 | MIR3936HG,SLC22A4 | c.583A>G (p.Met195Val) n.387A>G n.825-1446T>C c.55A>G (p.Met19Val) c.479A>G (p.Asp160Gly) | |
5 | g.132313699A>T | CA360803999 | MIR3936HG,SLC22A4 | c.583A>T (p.Met195Leu) n.387A>T n.825-1446T>A c.55A>T (p.Met19Leu) c.479A>T (p.Asp160Val) | |
5 | g.132313700T>A | CA360804000 | MIR3936HG,SLC22A4 | c.584T>A (p.Met195Lys) n.388T>A n.825-1447A>T c.56T>A (p.Met19Lys) c.480T>A (p.Asp160Glu) | |
5 | g.132313700T>C | CA3403447 | MIR3936HG,SLC22A4 | c.584T>C (p.Met195Thr) n.388T>C n.825-1447A>G c.56T>C (p.Met19Thr) c.480T>C (p.Asp160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132313700T>G | CA360804001 | MIR3936HG,SLC22A4 | c.584T>G (p.Met195Arg) n.388T>G n.825-1447A>C c.56T>G (p.Met19Arg) c.480T>G (p.Asp160Glu) | |
5 | g.132313700T= | CA1583118423 | MIR3936HG,SLC22A4 | c.584T= (p.Met195=) n.388T= n.825-1447A= c.56T= (p.Met19=) c.480T= (p.Asp160=) | |
5 | g.132313701G>A | CA360804002 | MIR3936HG,SLC22A4 | c.585G>A (p.Met195Ile) n.389G>A n.825-1448C>T c.57G>A (p.Met19Ile) c.481G>A (p.Val161Ile) | gnomAD v4 |
5 | g.132313701G>C | CA360804003 | MIR3936HG,SLC22A4 | c.585G>C (p.Met195Ile) n.389G>C n.825-1448C>G c.57G>C (p.Met19Ile) c.481G>C (p.Val161Leu) | |
5 | g.132313701G>T | CA360804004 | MIR3936HG,SLC22A4 | c.585G>T (p.Met195Ile) n.389G>T n.825-1448C>A c.57G>T (p.Met19Ile) c.481G>T (p.Val161Phe) | |
5 | g.132313702T>A | CA360804005 | MIR3936HG,SLC22A4 | c.586T>A (p.Phe196Ile) n.390T>A n.825-1449A>T c.58T>A (p.Phe20Ile) c.482T>A (p.Val161Asp) | |
5 | g.132313702T>C | CA360804006 | MIR3936HG,SLC22A4 | c.586T>C (p.Phe196Leu) n.390T>C n.825-1449A>G c.58T>C (p.Phe20Leu) c.482T>C (p.Val161Ala) | |
5 | g.132313702T>G | CA360804007 | MIR3936HG,SLC22A4 | c.586T>G (p.Phe196Val) n.390T>G n.825-1449A>C c.58T>G (p.Phe20Val) c.482T>G (p.Val161Gly) | dbSNP gnomAD v4 |
5 | g.132313702T= | CA1583118425 | MIR3936HG,SLC22A4 | c.586T= (p.Phe196=) n.390T= n.825-1449A= c.58T= (p.Phe20=) c.482T= (p.Val161=) | |
5 | g.132313703T>A | CA360804010 | MIR3936HG,SLC22A4 | c.587T>A (p.Phe196Tyr) n.391T>A n.825-1450A>T c.59T>A (p.Phe20Tyr) c.483T>A (p.Val161=) | |
5 | g.132313703T>C | CA360804009 | MIR3936HG,SLC22A4 | c.587T>C (p.Phe196Ser) n.391T>C n.825-1450A>G c.59T>C (p.Phe20Ser) c.483T>C (p.Val161=) | |
5 | g.132313703T>G | CA360804008 | MIR3936HG,SLC22A4 | c.587T>G (p.Phe196Cys) n.391T>G n.825-1450A>C c.59T>G (p.Phe20Cys) c.483T>G (p.Val161=) | |
5 | g.132313704C>A | CA360804011 | MIR3936HG,SLC22A4 | c.588C>A (p.Phe196Leu) n.392C>A n.825-1451G>T c.60C>A (p.Phe20Leu) c.484C>A (p.His162Asn) | |
5 | g.132313704C>G | CA360804012 | MIR3936HG,SLC22A4 | c.588C>G (p.Phe196Leu) n.392C>G n.825-1451G>C c.60C>G (p.Phe20Leu) c.484C>G (p.His162Asp) | |
5 | g.132313704C>T | CA446328718 | MIR3936HG,SLC22A4 | c.588C>T (p.Phe196=) n.392C>T n.825-1451G>A c.60C>T (p.Phe20=) c.484C>T (p.His162Tyr) | |
5 | g.132313705A>C | CA360804013 | MIR3936HG,SLC22A4 | c.589A>C (p.Thr197Pro) n.393A>C n.825-1452T>G c.61A>C (p.Thr21Pro) c.485A>C (p.His162Pro) | |
5 | g.132313705A>G | CA360804014 | MIR3936HG,SLC22A4 | c.589A>G (p.Thr197Ala) n.393A>G n.825-1452T>C c.61A>G (p.Thr21Ala) c.485A>G (p.His162Arg) | gnomAD v4 |
5 | g.132313705A>T | CA360804015 | MIR3936HG,SLC22A4 | c.589A>T (p.Thr197Ser) n.393A>T n.825-1452T>A c.61A>T (p.Thr21Ser) c.485A>T (p.His162Leu) | |
5 | g.132313706C>A | CA360804016 | MIR3936HG,SLC22A4 | c.590C>A (p.Thr197Asn) n.394C>A n.825-1453G>T c.62C>A (p.Thr21Asn) c.486C>A (p.His162Gln) | |
5 | g.132313706C= | CA1583118428 | MIR3936HG,SLC22A4 | c.590C= (p.Thr197=) n.394C= n.825-1453G= c.62C= (p.Thr21=) c.486C= (p.His162=) | |
5 | g.132313706C>G | CA360804017 | MIR3936HG,SLC22A4 | c.590C>G (p.Thr197Ser) n.394C>G n.825-1453G>C c.62C>G (p.Thr21Ser) c.486C>G (p.His162Gln) | |
5 | g.132313706C>T | CA360804018 | MIR3936HG,SLC22A4 | c.590C>T (p.Thr197Ile) n.394C>T n.825-1453G>A c.62C>T (p.Thr21Ile) c.486C>T (p.His162=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.132313707T>A | CA3403448 | MIR3936HG,SLC22A4 | c.591T>A (p.Thr197=) n.395T>A n.825-1454A>T c.63T>A (p.Thr21=) c.487T>A (p.Cys163Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.132313707T>C | CA446328728 | MIR3936HG,SLC22A4 | c.591T>C (p.Thr197=) n.395T>C n.825-1454A>G c.63T>C (p.Thr21=) c.487T>C (p.Cys163Arg) | |
5 | g.132313707T>G | CA446328726 | MIR3936HG,SLC22A4 | c.591T>G (p.Thr197=) n.395T>G n.825-1454A>C c.63T>G (p.Thr21=) c.487T>G (p.Cys163Gly) | |
5 | g.132313707T= | CA1583118432 | MIR3936HG,SLC22A4 | c.591T= (p.Thr197=) n.395T= n.825-1454A= c.63T= (p.Thr21=) c.487T= (p.Cys163=) | |
5 | g.132313710_132313711del | CA2675191083 | MIR3936HG,SLC22A4 | c.594_595del (p.Leu199IlefsTer?) n.398_399del n.825-1455_825-1454del c.66_67del (p.Leu23IlefsTer?) c.490_491del (p.Val164TyrfsTer15) | gnomAD v4 |
5 | g.132313708G>A | CA360804019 | MIR3936HG,SLC22A4 | c.592G>A (p.Val198Met) n.396G>A n.825-1455C>T c.64G>A (p.Val22Met) c.488G>A (p.Cys163Tyr) | |
5 | g.132313708G>C | CA360804020 | MIR3936HG,SLC22A4 | c.592G>C (p.Val198Leu) n.396G>C n.825-1455C>G c.64G>C (p.Val22Leu) c.488G>C (p.Cys163Ser) | |
5 | g.132313708G>T | CA360804021 | MIR3936HG,SLC22A4 | c.592G>T (p.Val198Leu) n.396G>T n.825-1455C>A c.64G>T (p.Val22Leu) c.488G>T (p.Cys163Phe) |