| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.45772520G>A | CA2351531 | SLC6A20 | c.678C>T (p.Tyr226=) c.583-1062C>T (n.583-1062C>T) c.537C>T (p.Tyr179=) c.381C>T (p.Tyr127=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45772520G>C | CA352453867 | SLC6A20 | c.678C>G (p.Tyr226Ter) c.583-1062C>G (n.583-1062C>G) c.537C>G (p.Tyr179Ter) c.381C>G (p.Tyr127Ter) | |
| 3 | g.45772520G= | CA1361819842 | SLC6A20 | c.678C= (p.Tyr226=) c.583-1062C= (n.583-1062C=) c.537C= (p.Tyr179=) c.381C= (p.Tyr127=) | |
| 3 | g.45772520G>T | CA352453870 | SLC6A20 | c.678C>A (p.Tyr226Ter) c.583-1062C>A (n.583-1062C>A) c.537C>A (p.Tyr179Ter) c.381C>A (p.Tyr127Ter) | |
| 3 | g.45772521T>A | CA352453874 | SLC6A20 | c.677A>T (p.Tyr226Phe) c.583-1063A>T (n.583-1063A>T) c.536A>T (p.Tyr179Phe) c.380A>T (p.Tyr127Phe) | |
| 3 | g.45772521T>C | CA2351532 | SLC6A20 | c.677A>G (p.Tyr226Cys) c.583-1063A>G (n.583-1063A>G) c.536A>G (p.Tyr179Cys) c.380A>G (p.Tyr127Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.45772521T>G | CA352453871 | SLC6A20 | c.677A>C (p.Tyr226Ser) c.583-1063A>C (n.583-1063A>C) c.536A>C (p.Tyr179Ser) c.380A>C (p.Tyr127Ser) | |
| 3 | g.45772521T= | CA1361819845 | SLC6A20 | c.677A= (p.Tyr226=) c.583-1063A= (n.583-1063A=) c.536A= (p.Tyr179=) c.380A= (p.Tyr127=) | |
| 3 | g.45772522A= | CA1361819847 | SLC6A20 | c.676T= (p.Tyr226=) c.583-1064T= (n.583-1064T=) c.535T= (p.Tyr179=) c.379T= (p.Tyr127=) | |
| 3 | g.45772522A>C | CA352453879 | SLC6A20 | c.676T>G (p.Tyr226Asp) c.583-1064T>G (n.583-1064T>G) c.535T>G (p.Tyr179Asp) c.379T>G (p.Tyr127Asp) | gnomAD v4 |
| 3 | g.45772522A>G | CA352453880 | SLC6A20 | c.676T>C (p.Tyr226His) c.583-1064T>C (n.583-1064T>C) c.535T>C (p.Tyr179His) c.379T>C (p.Tyr127His) | dbSNP |
| 3 | g.45772522A>T | CA352453881 | SLC6A20 | c.676T>A (p.Tyr226Asn) c.583-1064T>A (n.583-1064T>A) c.535T>A (p.Tyr179Asn) c.379T>A (p.Tyr127Asn) | |
| 3 | g.45772523C>A | CA352453882 | SLC6A20 | c.675G>T (p.Met225Ile) c.583-1065G>T (n.583-1065G>T) c.534G>T (p.Met178Ile) c.378G>T (p.Met126Ile) | |
| 3 | g.45772523C>G | CA352453883 | SLC6A20 | c.675G>C (p.Met225Ile) c.583-1065G>C (n.583-1065G>C) c.534G>C (p.Met178Ile) c.378G>C (p.Met126Ile) | |
| 3 | g.45772523C>T | CA352453884 | SLC6A20 | c.675G>A (p.Met225Ile) c.583-1065G>A (n.583-1065G>A) c.534G>A (p.Met178Ile) c.378G>A (p.Met126Ile) | gnomAD v4 |
| 3 | g.45772524A= | CA1361819849 | SLC6A20 | c.674T= (p.Met225=) c.583-1066T= (n.583-1066T=) c.533T= (p.Met178=) c.377T= (p.Met126=) | |
| 3 | g.45772524A>C | CA352453888 | SLC6A20 | c.674T>G (p.Met225Arg) c.583-1066T>G (n.583-1066T>G) c.533T>G (p.Met178Arg) c.377T>G (p.Met126Arg) | gnomAD v4 |
| 3 | g.45772524A>G | CA352453898 | SLC6A20 | c.674T>C (p.Met225Thr) c.583-1066T>C (n.583-1066T>C) c.533T>C (p.Met178Thr) c.377T>C (p.Met126Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45772524A>T | CA352453902 | SLC6A20 | c.674T>A (p.Met225Lys) c.583-1066T>A (n.583-1066T>A) c.533T>A (p.Met178Lys) c.377T>A (p.Met126Lys) | dbSNP gnomAD v4 |
| 3 | g.45772524_45772525del | CA2577572495 | SLC6A20 | c.673_674del (p.Met225ValfsTer?) c.583-1067_583-1066del (n.583-1067_583-1066del) c.532_533del (p.Met178ValfsTer?) c.376_377del (p.Met126ValfsTer?) | |
| 3 | g.45772525T>A | CA352453908 | SLC6A20 | c.673A>T (p.Met225Leu) c.583-1067A>T (n.583-1067A>T) c.532A>T (p.Met178Leu) c.376A>T (p.Met126Leu) | |
| 3 | g.45772525T>C | CA352453910 | SLC6A20 | c.673A>G (p.Met225Val) c.583-1067A>G (n.583-1067A>G) c.532A>G (p.Met178Val) c.376A>G (p.Met126Val) | |
| 3 | g.45772525T>G | CA352453911 | SLC6A20 | c.673A>C (p.Met225Leu) c.583-1067A>C (n.583-1067A>C) c.532A>C (p.Met178Leu) c.376A>C (p.Met126Leu) | |
| 3 | g.45772526G>A | CA433447626 | SLC6A20 | c.672C>T (p.Leu224=) c.583-1068C>T (n.583-1068C>T) c.531C>T (p.Leu177=) c.375C>T (p.Leu125=) | gnomAD v4 |
| 3 | g.45772526G>C | CA433447627 | SLC6A20 | c.672C>G (p.Leu224=) c.583-1068C>G (n.583-1068C>G) c.531C>G (p.Leu177=) c.375C>G (p.Leu125=) | |
| 3 | g.45772526G>T | CA433447628 | SLC6A20 | c.672C>A (p.Leu224=) c.583-1068C>A (n.583-1068C>A) c.531C>A (p.Leu177=) c.375C>A (p.Leu125=) | |
| 3 | g.45772527A>C | CA352453914 | SLC6A20 | c.671T>G (p.Leu224Arg) c.583-1069T>G (n.583-1069T>G) c.530T>G (p.Leu177Arg) c.374T>G (p.Leu125Arg) | |
| 3 | g.45772527A>G | CA352453918 | SLC6A20 | c.671T>C (p.Leu224Pro) c.583-1069T>C (n.583-1069T>C) c.530T>C (p.Leu177Pro) c.374T>C (p.Leu125Pro) | |
| 3 | g.45772527A>T | CA352453916 | SLC6A20 | c.671T>A (p.Leu224His) c.583-1069T>A (n.583-1069T>A) c.530T>A (p.Leu177His) c.374T>A (p.Leu125His) | |
| 3 | g.45772528G>A | CA352453925 | SLC6A20 | c.670C>T (p.Leu224Phe) c.583-1070C>T (n.583-1070C>T) c.529C>T (p.Leu177Phe) c.373C>T (p.Leu125Phe) | COSMIC |
| 3 | g.45772528G>C | CA352453934 | SLC6A20 | c.670C>G (p.Leu224Val) c.583-1070C>G (n.583-1070C>G) c.529C>G (p.Leu177Val) c.373C>G (p.Leu125Val) | |
| 3 | g.45772528G>T | CA352453927 | SLC6A20 | c.670C>A (p.Leu224Ile) c.583-1070C>A (n.583-1070C>A) c.529C>A (p.Leu177Ile) c.373C>A (p.Leu125Ile) | |
| 3 | g.45772529G>A | CA433447629 | SLC6A20 | c.669C>T (p.Gly223=) c.583-1071C>T (n.583-1071C>T) c.528C>T (p.Gly176=) c.372C>T (p.Gly124=) | gnomAD v4 |
| 3 | g.45772529G>C | CA433447630 | SLC6A20 | c.669C>G (p.Gly223=) c.583-1071C>G (n.583-1071C>G) c.528C>G (p.Gly176=) c.372C>G (p.Gly124=) | |
| 3 | g.45772529G= | CA1361819851 | SLC6A20 | c.669C= (p.Gly223=) c.583-1071C= (n.583-1071C=) c.528C= (p.Gly176=) c.372C= (p.Gly124=) | |
| 3 | g.45772529G>T | CA2351533 | SLC6A20 | c.669C>A (p.Gly223=) c.583-1071C>A (n.583-1071C>A) c.528C>A (p.Gly176=) c.372C>A (p.Gly124=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.45772530C>A | CA352453941 | SLC6A20 | c.668G>T (p.Gly223Val) c.583-1072G>T (n.583-1072G>T) c.527G>T (p.Gly176Val) c.371G>T (p.Gly124Val) | |
| 3 | g.45772530C>G | CA352453937 | SLC6A20 | c.668G>C (p.Gly223Ala) c.583-1072G>C (n.583-1072G>C) c.527G>C (p.Gly176Ala) c.371G>C (p.Gly124Ala) | gnomAD v4 |
| 3 | g.45772530C>T | CA352453938 | SLC6A20 | c.668G>A (p.Gly223Asp) c.583-1072G>A (n.583-1072G>A) c.527G>A (p.Gly176Asp) c.371G>A (p.Gly124Asp) | |
| 3 | g.45772531C>A | CA352453944 | SLC6A20 | c.667G>T (p.Gly223Cys) c.583-1073G>T (n.583-1073G>T) c.526G>T (p.Gly176Cys) c.370G>T (p.Gly124Cys) | |
| 3 | g.45772531C>G | CA352453945 | SLC6A20 | c.667G>C (p.Gly223Arg) c.583-1073G>C (n.583-1073G>C) c.526G>C (p.Gly176Arg) c.370G>C (p.Gly124Arg) | |
| 3 | g.45772531C>T | CA352453948 | SLC6A20 | c.667G>A (p.Gly223Ser) c.583-1073G>A (n.583-1073G>A) c.526G>A (p.Gly176Ser) c.370G>A (p.Gly124Ser) | |
| 3 | g.45772532A= | CA1361819854 | SLC6A20 | c.666T= (p.Asn222=) c.583-1074T= (n.583-1074T=) c.525T= (p.Asn175=) c.369T= (p.Asn123=) | |
| 3 | g.45772532A>C | CA352453951 | SLC6A20 | c.666T>G (p.Asn222Lys) c.583-1074T>G (n.583-1074T>G) c.525T>G (p.Asn175Lys) c.369T>G (p.Asn123Lys) | |
| 3 | g.45772532A>G | CA2351535 | SLC6A20 | c.666T>C (p.Asn222=) c.583-1074T>C (n.583-1074T>C) c.525T>C (p.Asn175=) c.369T>C (p.Asn123=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45772532A>T | CA2351534 | SLC6A20 | c.666T>A (p.Asn222Lys) c.583-1074T>A (n.583-1074T>A) c.525T>A (p.Asn175Lys) c.369T>A (p.Asn123Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45772533T>A | CA352453956 | SLC6A20 | c.665A>T (p.Asn222Ile) c.583-1075A>T (n.583-1075A>T) c.524A>T (p.Asn175Ile) c.368A>T (p.Asn123Ile) | |
| 3 | g.45772533T>C | CA352453960 | SLC6A20 | c.665A>G (p.Asn222Ser) c.583-1075A>G (n.583-1075A>G) c.524A>G (p.Asn175Ser) c.368A>G (p.Asn123Ser) | |
| 3 | g.45772533T>G | CA352453963 | SLC6A20 | c.665A>C (p.Asn222Thr) c.583-1075A>C (n.583-1075A>C) c.524A>C (p.Asn175Thr) c.368A>C (p.Asn123Thr) | |
| 3 | g.45772534T>A | CA352453977 | SLC6A20 | c.664A>T (p.Asn222Tyr) c.583-1076A>T (n.583-1076A>T) c.523A>T (p.Asn175Tyr) c.367A>T (p.Asn123Tyr) | |
| 3 | g.45772534T>C | CA352453975 | SLC6A20 | c.664A>G (p.Asn222Asp) c.583-1076A>G (n.583-1076A>G) c.523A>G (p.Asn175Asp) c.367A>G (p.Asn123Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.45772534T>G | CA352453973 | SLC6A20 | c.664A>C (p.Asn222His) c.583-1076A>C (n.583-1076A>C) c.523A>C (p.Asn175His) c.367A>C (p.Asn123His) | |
| 3 | g.45772534T= | CA1361819857 | SLC6A20 | c.664A= (p.Asn222=) c.583-1076A= (n.583-1076A=) c.523A= (p.Asn175=) c.367A= (p.Asn123=) | |
| 3 | g.45772535G>A | CA433447631 | SLC6A20 | c.663C>T (p.Thr221=) c.583-1077C>T (n.583-1077C>T) c.522C>T (p.Thr174=) c.366C>T (p.Thr122=) | dbSNP gnomAD v4 |
| 3 | g.45772535G>C | CA433447633 | SLC6A20 | c.663C>G (p.Thr221=) c.583-1077C>G (n.583-1077C>G) c.522C>G (p.Thr174=) c.366C>G (p.Thr122=) | |
| 3 | g.45772535G= | CA1361819858 | SLC6A20 | c.663C= (p.Thr221=) c.583-1077C= (n.583-1077C=) c.522C= (p.Thr174=) c.366C= (p.Thr122=) | |
| 3 | g.45772535G>T | CA433447632 | SLC6A20 | c.663C>A (p.Thr221=) c.583-1077C>A (n.583-1077C>A) c.522C>A (p.Thr174=) c.366C>A (p.Thr122=) | |
| 3 | g.45772536G>A | CA352453980 | SLC6A20 | c.662C>T (p.Thr221Ile) c.583-1078C>T (n.583-1078C>T) c.521C>T (p.Thr174Ile) c.365C>T (p.Thr122Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.45772536G>C | CA352453981 | SLC6A20 | c.662C>G (p.Thr221Ser) c.583-1078C>G (n.583-1078C>G) c.521C>G (p.Thr174Ser) c.365C>G (p.Thr122Ser) | |
| 3 | g.45772536G= | CA1361819860 | SLC6A20 | c.662C= (p.Thr221=) c.583-1078C= (n.583-1078C=) c.521C= (p.Thr174=) c.365C= (p.Thr122=) | |
| 3 | g.45772536G>T | CA352453982 | SLC6A20 | c.662C>A (p.Thr221Asn) c.583-1078C>A (n.583-1078C>A) c.521C>A (p.Thr174Asn) c.365C>A (p.Thr122Asn) | |
| 3 | g.45772537T>A | CA352453983 | SLC6A20 | c.661A>T (p.Thr221Ser) c.583-1079A>T (n.583-1079A>T) c.520A>T (p.Thr174Ser) c.364A>T (p.Thr122Ser) | gnomAD v4 |
| 3 | g.45772537T>C | CA352453985 | SLC6A20 | c.661A>G (p.Thr221Ala) c.583-1079A>G (n.583-1079A>G) c.520A>G (p.Thr174Ala) c.364A>G (p.Thr122Ala) | COSMIC |
| 3 | g.45772537T>G | CA352453986 | SLC6A20 | c.661A>C (p.Thr221Pro) c.583-1079A>C (n.583-1079A>C) c.520A>C (p.Thr174Pro) c.364A>C (p.Thr122Pro) | |
| 3 | g.45772537T= | CA1361819862 | SLC6A20 | c.661A= (p.Thr221=) c.583-1079A= (n.583-1079A=) c.520A= (p.Thr174=) c.364A= (p.Thr122=) | |
| 3 | g.45772538G>A | CA433447634 | SLC6A20 | c.660C>T (p.Ala220=) c.583-1080C>T (n.583-1080C>T) c.519C>T (p.Ala173=) c.363C>T (p.Ala121=) | |
| 3 | g.45772538G>C | CA433447635 | SLC6A20 | c.660C>G (p.Ala220=) c.583-1080C>G (n.583-1080C>G) c.519C>G (p.Ala173=) c.363C>G (p.Ala121=) | |
| 3 | g.45772538G>T | CA433447636 | SLC6A20 | c.660C>A (p.Ala220=) c.583-1080C>A (n.583-1080C>A) c.519C>A (p.Ala173=) c.363C>A (p.Ala121=) | |
| 3 | g.45772538_45772540dup | CA907471163 | SLC6A20 | c.658_660dup (p.Ala220_Thr221insAla) c.583-1082_583-1080dup (n.583-1082_583-1080dup) c.517_519dup (p.Ala173_Thr174insAla) c.361_363dup (p.Ala121_Thr122insAla) | dbSNP gnomAD v4 |
| 3 | g.45772539G>A | CA10618623 | SLC6A20 | c.659C>T (p.Ala220Val) c.583-1081C>T (n.583-1081C>T) c.518C>T (p.Ala173Val) c.362C>T (p.Ala121Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.45772539G>C | CA352453988 | SLC6A20 | c.659C>G (p.Ala220Gly) c.583-1081C>G (n.583-1081C>G) c.518C>G (p.Ala173Gly) c.362C>G (p.Ala121Gly) | |
| 3 | g.45772539G= | CA1361819865 | SLC6A20 | c.659C= (p.Ala220=) c.583-1081C= (n.583-1081C=) c.518C= (p.Ala173=) c.362C= (p.Ala121=) | |
| 3 | g.45772539G>T | CA352453994 | SLC6A20 | c.659C>A (p.Ala220Asp) c.583-1081C>A (n.583-1081C>A) c.518C>A (p.Ala173Asp) c.362C>A (p.Ala121Asp) | gnomAD v4 |
| 3 | g.45772540C>A | CA352453995 | SLC6A20 | c.658G>T (p.Ala220Ser) c.583-1082G>T (n.583-1082G>T) c.517G>T (p.Ala173Ser) c.361G>T (p.Ala121Ser) | |
| 3 | g.45772540C= | CA1361819868 | SLC6A20 | c.658G= (p.Ala220=) c.583-1082G= (n.583-1082G=) c.517G= (p.Ala173=) c.361G= (p.Ala121=) | |
| 3 | g.45772540C>G | CA352453997 | SLC6A20 | c.658G>C (p.Ala220Pro) c.583-1082G>C (n.583-1082G>C) c.517G>C (p.Ala173Pro) c.361G>C (p.Ala121Pro) | |
| 3 | g.45772540C>T | CA352453999 | SLC6A20 | c.658G>A (p.Ala220Thr) c.583-1082G>A (n.583-1082G>A) c.517G>A (p.Ala173Thr) c.361G>A (p.Ala121Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.45772541T>A | CA433447637 | SLC6A20 | c.657A>T (p.Gly219=) c.583-1083A>T (n.583-1083A>T) c.516A>T (p.Gly172=) c.360A>T (p.Gly120=) | |
| 3 | g.45772541T>C | CA433447638 | SLC6A20 | c.657A>G (p.Gly219=) c.583-1083A>G (n.583-1083A>G) c.516A>G (p.Gly172=) c.360A>G (p.Gly120=) | gnomAD v4 |
| 3 | g.45772541T>G | CA433447639 | SLC6A20 | c.657A>C (p.Gly219=) c.583-1083A>C (n.583-1083A>C) c.516A>C (p.Gly172=) c.360A>C (p.Gly120=) | |
| 3 | g.45772542C>A | CA352454004 | SLC6A20 | c.656G>T (p.Gly219Val) c.583-1084G>T (n.583-1084G>T) c.515G>T (p.Gly172Val) c.359G>T (p.Gly120Val) | |
| 3 | g.45772542C>G | CA352454002 | SLC6A20 | c.656G>C (p.Gly219Ala) c.583-1084G>C (n.583-1084G>C) c.515G>C (p.Gly172Ala) c.359G>C (p.Gly120Ala) | |
| 3 | g.45772542C>T | CA352454001 | SLC6A20 | c.656G>A (p.Gly219Glu) c.583-1084G>A (n.583-1084G>A) c.515G>A (p.Gly172Glu) c.359G>A (p.Gly120Glu) | |
| 3 | g.45772543C>A | CA352454006 | SLC6A20 | c.655G>T (p.Gly219Ter) c.583-1085G>T (n.583-1085G>T) c.514G>T (p.Gly172Ter) c.358G>T (p.Gly120Ter) | |
| 3 | g.45772543C= | CA1361819870 | SLC6A20 | c.655G= (p.Gly219=) c.583-1085G= (n.583-1085G=) c.514G= (p.Gly172=) c.358G= (p.Gly120=) | |
| 3 | g.45772543C>G | CA352454008 | SLC6A20 | c.655G>C (p.Gly219Arg) c.583-1085G>C (n.583-1085G>C) c.514G>C (p.Gly172Arg) c.358G>C (p.Gly120Arg) | |
| 3 | g.45772543C>T | CA2351536 | SLC6A20 | c.655G>A (p.Gly219Arg) c.583-1085G>A (n.583-1085G>A) c.514G>A (p.Gly172Arg) c.358G>A (p.Gly120Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.45772544G>A | CA2351537 | SLC6A20 | c.654C>T (p.His218=) c.583-1086C>T (n.583-1086C>T) c.513C>T (p.His171=) c.357C>T (p.His119=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45772544G>C | CA352454011 | SLC6A20 | c.654C>G (p.His218Gln) c.583-1086C>G (n.583-1086C>G) c.513C>G (p.His171Gln) c.357C>G (p.His119Gln) | |
| 3 | g.45772544G= | CA1361819873 | SLC6A20 | c.654C= (p.His218=) c.583-1086C= (n.583-1086C=) c.513C= (p.His171=) c.357C= (p.His119=) | |
| 3 | g.45772544G>T | CA352454013 | SLC6A20 | c.654C>A (p.His218Gln) c.583-1086C>A (n.583-1086C>A) c.513C>A (p.His171Gln) c.357C>A (p.His119Gln) | |
| 3 | g.45772545T>A | CA352454017 | SLC6A20 | c.653A>T (p.His218Leu) c.583-1087A>T (n.583-1087A>T) c.512A>T (p.His171Leu) c.356A>T (p.His119Leu) | |
| 3 | g.45772545T>C | CA2351538 | SLC6A20 | c.653A>G (p.His218Arg) c.583-1087A>G (n.583-1087A>G) c.512A>G (p.His171Arg) c.356A>G (p.His119Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.45772545T>G | CA352454019 | SLC6A20 | c.653A>C (p.His218Pro) c.583-1087A>C (n.583-1087A>C) c.512A>C (p.His171Pro) c.356A>C (p.His119Pro) | |
| 3 | g.45772545T= | CA1361819875 | SLC6A20 | c.653A= (p.His218=) c.583-1087A= (n.583-1087A=) c.512A= (p.His171=) c.356A= (p.His119=) | |
| 3 | g.45772546G>A | CA352454022 | SLC6A20 | c.652C>T (p.His218Tyr) c.583-1088C>T (n.583-1088C>T) c.511C>T (p.His171Tyr) c.355C>T (p.His119Tyr) | gnomAD v4 |
| 3 | g.45772546G>C | CA352454026 | SLC6A20 | c.652C>G (p.His218Asp) c.583-1088C>G (n.583-1088C>G) c.511C>G (p.His171Asp) c.355C>G (p.His119Asp) | |
| 3 | g.45772546G>T | CA352454028 | SLC6A20 | c.652C>A (p.His218Asn) c.583-1088C>A (n.583-1088C>A) c.511C>A (p.His171Asn) c.355C>A (p.His119Asn) | |
| 3 | g.45772547del | CA2665411758 | SLC6A20 | c.652del (p.His218ThrfsTer26) c.652del (p.His218ThrfsTer15) c.583-1088del (n.583-1088del) c.511del (p.His171ThrfsTer15) c.355del (p.His119ThrfsTer15) | gnomAD v4 |
| 3 | g.45772547G>A | CA433447640 | SLC6A20 | c.651C>T (p.Leu217=) c.583-1089C>T (n.583-1089C>T) c.510C>T (p.Leu170=) c.354C>T (p.Leu118=) | |
| 3 | g.45772547G>C | CA433447641 | SLC6A20 | c.651C>G (p.Leu217=) c.583-1089C>G (n.583-1089C>G) c.510C>G (p.Leu170=) c.354C>G (p.Leu118=) | gnomAD v4 |
| 3 | g.45772547G>T | CA433447642 | SLC6A20 | c.651C>A (p.Leu217=) c.583-1089C>A (n.583-1089C>A) c.510C>A (p.Leu170=) c.354C>A (p.Leu118=) | |
| 3 | g.45772548A>C | CA352454042 | SLC6A20 | c.650T>G (p.Leu217Arg) c.583-1090T>G (n.583-1090T>G) c.509T>G (p.Leu170Arg) c.353T>G (p.Leu118Arg) | |
| 3 | g.45772548A>G | CA352454039 | SLC6A20 | c.650T>C (p.Leu217Pro) c.583-1090T>C (n.583-1090T>C) c.509T>C (p.Leu170Pro) c.353T>C (p.Leu118Pro) | |
| 3 | g.45772548A>T | CA352454041 | SLC6A20 | c.650T>A (p.Leu217His) c.583-1090T>A (n.583-1090T>A) c.509T>A (p.Leu170His) c.353T>A (p.Leu118His) | |
| 3 | g.45772549G>A | CA352454045 | SLC6A20 | c.649C>T (p.Leu217Phe) c.583-1091C>T (n.583-1091C>T) c.508C>T (p.Leu170Phe) c.352C>T (p.Leu118Phe) | gnomAD v4 |
| 3 | g.45772549G>C | CA352454047 | SLC6A20 | c.649C>G (p.Leu217Val) c.583-1091C>G (n.583-1091C>G) c.508C>G (p.Leu170Val) c.352C>G (p.Leu118Val) | |
| 3 | g.45772549G>T | CA352454048 | SLC6A20 | c.649C>A (p.Leu217Ile) c.583-1091C>A (n.583-1091C>A) c.508C>A (p.Leu170Ile) c.352C>A (p.Leu118Ile) | |
| 3 | g.45772550C>A | CA433447643 | SLC6A20 | c.648G>T (p.Thr216=) c.583-1092G>T (n.583-1092G>T) c.507G>T (p.Thr169=) c.351G>T (p.Thr117=) | |
| 3 | g.45772550C= | CA1361819877 | SLC6A20 | c.648G= (p.Thr216=) c.583-1092G= (n.583-1092G=) c.507G= (p.Thr169=) c.351G= (p.Thr117=) | |
| 3 | g.45772550C>G | CA433447644 | SLC6A20 | c.648G>C (p.Thr216=) c.583-1092G>C (n.583-1092G>C) c.507G>C (p.Thr169=) c.351G>C (p.Thr117=) | |
| 3 | g.45772550C>T | CA2351539 | SLC6A20 | c.648G>A (p.Thr216=) c.583-1092G>A (n.583-1092G>A) c.507G>A (p.Thr169=) c.351G>A (p.Thr117=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45772551G>A | CA2351540 | SLC6A20 | c.647C>T (p.Thr216Met) c.583-1093C>T (n.583-1093C>T) c.506C>T (p.Thr169Met) c.350C>T (p.Thr117Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.45772551G>C | CA2351541 | SLC6A20 | c.647C>G (p.Thr216Arg) c.583-1093C>G (n.583-1093C>G) c.506C>G (p.Thr169Arg) c.350C>G (p.Thr117Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45772551G= | CA1361819880 | SLC6A20 | c.647C= (p.Thr216=) c.583-1093C= (n.583-1093C=) c.506C= (p.Thr169=) c.350C= (p.Thr117=) | |
| 3 | g.45772551G>T | CA73646529 | SLC6A20 | c.647C>A (p.Thr216Lys) c.583-1093C>A (n.583-1093C>A) c.506C>A (p.Thr169Lys) c.350C>A (p.Thr117Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.45772552T>A | CA352454059 | SLC6A20 | c.646A>T (p.Thr216Ser) c.583-1094A>T (n.583-1094A>T) c.505A>T (p.Thr169Ser) c.349A>T (p.Thr117Ser) | |
| 3 | g.45772552T>C | CA352454061 | SLC6A20 | c.646A>G (p.Thr216Ala) c.583-1094A>G (n.583-1094A>G) c.505A>G (p.Thr169Ala) c.349A>G (p.Thr117Ala) | |
| 3 | g.45772552T>G | CA352454062 | SLC6A20 | c.646A>C (p.Thr216Pro) c.583-1094A>C (n.583-1094A>C) c.505A>C (p.Thr169Pro) c.349A>C (p.Thr117Pro) | |
| 3 | g.45772553G>A | CA2351542 | SLC6A20 | c.645C>T (p.Leu215=) c.583-1095C>T (n.583-1095C>T) c.504C>T (p.Leu168=) c.348C>T (p.Leu116=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.45772553G>C | CA433447645 | SLC6A20 | c.645C>G (p.Leu215=) c.583-1095C>G (n.583-1095C>G) c.504C>G (p.Leu168=) c.348C>G (p.Leu116=) | |
| 3 | g.45772553G= | CA1361819883 | SLC6A20 | c.645C= (p.Leu215=) c.583-1095C= (n.583-1095C=) c.504C= (p.Leu168=) c.348C= (p.Leu116=) | |
| 3 | g.45772553G>T | CA433447646 | SLC6A20 | c.645C>A (p.Leu215=) c.583-1095C>A (n.583-1095C>A) c.504C>A (p.Leu168=) c.348C>A (p.Leu116=) | |
| 3 | g.45772554A>C | CA352454069 | SLC6A20 | c.644T>G (p.Leu215Arg) c.583-1096T>G (n.583-1096T>G) c.503T>G (p.Leu168Arg) c.347T>G (p.Leu116Arg) | |
| 3 | g.45772554A>G | CA352454067 | SLC6A20 | c.644T>C (p.Leu215Pro) c.583-1096T>C (n.583-1096T>C) c.503T>C (p.Leu168Pro) c.347T>C (p.Leu116Pro) | |
| 3 | g.45772554A>T | CA352454066 | SLC6A20 | c.644T>A (p.Leu215His) c.583-1096T>A (n.583-1096T>A) c.503T>A (p.Leu168His) c.347T>A (p.Leu116His) | |
| 3 | g.45772555G>A | CA352454072 | SLC6A20 | c.643C>T (p.Leu215Phe) c.583-1097C>T (n.583-1097C>T) c.502C>T (p.Leu168Phe) c.346C>T (p.Leu116Phe) | COSMIC |
| 3 | g.45772555G>C | CA352454075 | SLC6A20 | c.643C>G (p.Leu215Val) c.583-1097C>G (n.583-1097C>G) c.502C>G (p.Leu168Val) c.346C>G (p.Leu116Val) | gnomAD v4 |
| 3 | g.45772555G>T | CA352454074 | SLC6A20 | c.643C>A (p.Leu215Ile) c.583-1097C>A (n.583-1097C>A) c.502C>A (p.Leu168Ile) c.346C>A (p.Leu116Ile) | gnomAD v4 |
| 3 | g.45772556G>A | CA433447647 | SLC6A20 | c.642C>T (p.Gly214=) c.583-1098C>T (n.583-1098C>T) c.501C>T (p.Gly167=) c.345C>T (p.Gly115=) | gnomAD v4 COSMIC |
| 3 | g.45772556G>C | CA433447648 | SLC6A20 | c.642C>G (p.Gly214=) c.583-1098C>G (n.583-1098C>G) c.501C>G (p.Gly167=) c.345C>G (p.Gly115=) | |
| 3 | g.45772556G= | CA1361819884 | SLC6A20 | c.642C= (p.Gly214=) c.583-1098C= (n.583-1098C=) c.501C= (p.Gly167=) c.345C= (p.Gly115=) | |
| 3 | g.45772556G>T | CA433447649 | SLC6A20 | c.642C>A (p.Gly214=) c.583-1098C>A (n.583-1098C>A) c.501C>A (p.Gly167=) c.345C>A (p.Gly115=) | dbSNP gnomAD v4 |
| 3 | g.45772557C>A | CA2351544 | SLC6A20 | c.641G>T (p.Gly214Val) c.583-1099G>T (n.583-1099G>T) c.500G>T (p.Gly167Val) c.344G>T (p.Gly115Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.45772557C= | CA1361819886 | SLC6A20 | c.641G= (p.Gly214=) c.583-1099G= (n.583-1099G=) c.500G= (p.Gly167=) c.344G= (p.Gly115=) | |
| 3 | g.45772557C>G | CA352454078 | SLC6A20 | c.641G>C (p.Gly214Ala) c.583-1099G>C (n.583-1099G>C) c.500G>C (p.Gly167Ala) c.344G>C (p.Gly115Ala) | COSMIC |
| 3 | g.45772557C>T | CA352454081 | SLC6A20 | c.641G>A (p.Gly214Asp) c.583-1099G>A (n.583-1099G>A) c.500G>A (p.Gly167Asp) c.344G>A (p.Gly115Asp) | dbSNP gnomAD v4 |
| 3 | g.45772560dup | CA2351543 | SLC6A20 | c.641dup (p.Leu215ProfsTer?) c.583-1099dup (n.583-1099dup) c.500dup (p.Leu168ProfsTer?) c.344dup (p.Leu116ProfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.45772558C>A | CA352454085 | SLC6A20 | c.640G>T (p.Gly214Cys) c.583-1100G>T (n.583-1100G>T) c.499G>T (p.Gly167Cys) c.343G>T (p.Gly115Cys) | |
| 3 | g.45772558C>G | CA352454087 | SLC6A20 | c.640G>C (p.Gly214Arg) c.583-1100G>C (n.583-1100G>C) c.499G>C (p.Gly167Arg) c.343G>C (p.Gly115Arg) | gnomAD v4 |
| 3 | g.45772558C>T | CA352454088 | SLC6A20 | c.640G>A (p.Gly214Ser) c.583-1100G>A (n.583-1100G>A) c.499G>A (p.Gly167Ser) c.343G>A (p.Gly115Ser) | |
| 3 | g.45772559C>A | CA352454090 | SLC6A20 | c.639G>T (p.Arg213Ser) c.583-1101G>T (n.583-1101G>T) c.498G>T (p.Arg166Ser) c.342G>T (p.Arg114Ser) | |
| 3 | g.45772559C>G | CA352454091 | SLC6A20 | c.639G>C (p.Arg213Ser) c.583-1101G>C (n.583-1101G>C) c.498G>C (p.Arg166Ser) c.342G>C (p.Arg114Ser) | |
| 3 | g.45772559C>T | CA433447650 | SLC6A20 | c.639G>A (p.Arg213=) c.583-1101G>A (n.583-1101G>A) c.498G>A (p.Arg166=) c.342G>A (p.Arg114=) | |
| 3 | g.45772560C>A | CA352454094 | SLC6A20 | c.638G>T (p.Arg213Met) c.583-1102G>T (n.583-1102G>T) c.497G>T (p.Arg166Met) c.341G>T (p.Arg114Met) | |
| 3 | g.45772560C= | CA1361819888 | SLC6A20 | c.638G= (p.Arg213=) c.583-1102G= (n.583-1102G=) c.497G= (p.Arg166=) c.341G= (p.Arg114=) | |
| 3 | g.45772560C>G | CA352454097 | SLC6A20 | c.638G>C (p.Arg213Thr) c.583-1102G>C (n.583-1102G>C) c.497G>C (p.Arg166Thr) c.341G>C (p.Arg114Thr) | |
| 3 | g.45772560C>T | CA2351546 | SLC6A20 | c.638G>A (p.Arg213Lys) c.583-1102G>A (n.583-1102G>A) c.497G>A (p.Arg166Lys) c.341G>A (p.Arg114Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45772560_45772561delinsCT | CA1361819890 | SLC6A20 | c.637_638delinsAG (p.Arg213=) c.583-1103_583-1102delinsAG (n.583-1103_583-1102delinsAG) c.496_497delinsAG (p.Arg166=) c.340_341delinsAG (p.Arg114=) | |
| 3 | g.45772560_45772563delinsCTGA | CA1361819891 | SLC6A20 | c.635_638delinsTCAG (p.Ile212=) c.583-1105_583-1102delinsTCAG (n.583-1105_583-1102delinsTCAG) c.494_497delinsTCAG (p.Ile165=) c.338_341delinsTCAG (p.Ile113=) | |
| 3 | g.45772561del | CA2351545 | SLC6A20 | c.637del (p.Arg213GlyfsTer?) c.637del (p.Arg213GlyfsTer20) c.583-1103del (n.583-1103del) c.496del (p.Arg166GlyfsTer20) c.340del (p.Arg114GlyfsTer20) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45772561T>A | CA352454102 | SLC6A20 | c.637A>T (p.Arg213Trp) c.583-1103A>T (n.583-1103A>T) c.496A>T (p.Arg166Trp) c.340A>T (p.Arg114Trp) | |
| 3 | g.45772561T>C | CA352454100 | SLC6A20 | c.637A>G (p.Arg213Gly) c.583-1103A>G (n.583-1103A>G) c.496A>G (p.Arg166Gly) c.340A>G (p.Arg114Gly) | |
| 3 | g.45772561T>G | CA433447651 | SLC6A20 | c.637A>C (p.Arg213=) c.583-1103A>C (n.583-1103A>C) c.496A>C (p.Arg166=) c.340A>C (p.Arg114=) | |
| 3 | g.45772564_45772566del | CA1361819893 | SLC6A20 | c.635_637del (p.Ile212del) c.583-1105_583-1103del (n.583-1105_583-1103del) c.494_496del (p.Ile165del) c.338_340del (p.Ile113del) | dbSNP |
| 3 | g.45772562G>A | CA433447652 | SLC6A20 | c.636C>T (p.Ile212=) c.583-1104C>T (n.583-1104C>T) c.495C>T (p.Ile165=) c.339C>T (p.Ile113=) | dbSNP |
| 3 | g.45772562G>C | CA352454105 | SLC6A20 | c.636C>G (p.Ile212Met) c.583-1104C>G (n.583-1104C>G) c.495C>G (p.Ile165Met) c.339C>G (p.Ile113Met) | |
| 3 | g.45772562G>T | CA433447653 | SLC6A20 | c.636C>A (p.Ile212=) c.583-1104C>A (n.583-1104C>A) c.495C>A (p.Ile165=) c.339C>A (p.Ile113=) | |
| 3 | g.45772562_45772579del | CA2702786229 | SLC6A20 | c.619_636del (p.Leu207_Ile212del) c.583-1121_583-1104del (n.583-1121_583-1104del) c.478_495del (p.Leu160_Ile165del) c.322_339del (p.Leu108_Ile113del) | dbSNP |
| 3 | g.45772563A>C | CA352454108 | SLC6A20 | c.635T>G (p.Ile212Ser) c.583-1105T>G (n.583-1105T>G) c.494T>G (p.Ile165Ser) c.338T>G (p.Ile113Ser) | |
| 3 | g.45772563A>G | CA352454109 | SLC6A20 | c.635T>C (p.Ile212Thr) c.583-1105T>C (n.583-1105T>C) c.494T>C (p.Ile165Thr) c.338T>C (p.Ile113Thr) | |
| 3 | g.45772563A>T | CA352454111 | SLC6A20 | c.635T>A (p.Ile212Asn) c.583-1105T>A (n.583-1105T>A) c.494T>A (p.Ile165Asn) c.338T>A (p.Ile113Asn) | |
| 3 | g.45772564T>A | CA352454113 | SLC6A20 | c.634A>T (p.Ile212Phe) c.583-1106A>T (n.583-1106A>T) c.493A>T (p.Ile165Phe) c.337A>T (p.Ile113Phe) | |
| 3 | g.45772564T>C | CA352454115 | SLC6A20 | c.634A>G (p.Ile212Val) c.583-1106A>G (n.583-1106A>G) c.493A>G (p.Ile165Val) c.337A>G (p.Ile113Val) | |
| 3 | g.45772564T>G | CA352454116 | SLC6A20 | c.634A>C (p.Ile212Leu) c.583-1106A>C (n.583-1106A>C) c.493A>C (p.Ile165Leu) c.337A>C (p.Ile113Leu) | |
| 3 | g.45772565G>A | CA433447654 | SLC6A20 | c.633C>T (p.Leu211=) c.583-1107C>T (n.583-1107C>T) c.492C>T (p.Leu164=) c.336C>T (p.Leu112=) | |
| 3 | g.45772565G>C | CA433447655 | SLC6A20 | c.633C>G (p.Leu211=) c.583-1107C>G (n.583-1107C>G) c.492C>G (p.Leu164=) c.336C>G (p.Leu112=) | |
| 3 | g.45772565G>T | CA433447656 | SLC6A20 | c.633C>A (p.Leu211=) c.583-1107C>A (n.583-1107C>A) c.492C>A (p.Leu164=) c.336C>A (p.Leu112=) | |
| 3 | g.45772566A>C | CA352454117 | SLC6A20 | c.632T>G (p.Leu211Arg) c.583-1108T>G (n.583-1108T>G) c.491T>G (p.Leu164Arg) c.335T>G (p.Leu112Arg) | |
| 3 | g.45772566A>G | CA352454118 | SLC6A20 | c.632T>C (p.Leu211Pro) c.583-1108T>C (n.583-1108T>C) c.491T>C (p.Leu164Pro) c.335T>C (p.Leu112Pro) | |
| 3 | g.45772566A>T | CA352454119 | SLC6A20 | c.632T>A (p.Leu211His) c.583-1108T>A (n.583-1108T>A) c.491T>A (p.Leu164His) c.335T>A (p.Leu112His) | |
| 3 | g.45772567G>A | CA352454127 | SLC6A20 | c.631C>T (p.Leu211Phe) c.583-1109C>T (n.583-1109C>T) c.490C>T (p.Leu164Phe) c.334C>T (p.Leu112Phe) | gnomAD v4 COSMIC |
| 3 | g.45772567G>C | CA352454125 | SLC6A20 | c.631C>G (p.Leu211Val) c.583-1109C>G (n.583-1109C>G) c.490C>G (p.Leu164Val) c.334C>G (p.Leu112Val) | |
| 3 | g.45772567G>T | CA352454122 | SLC6A20 | c.631C>A (p.Leu211Ile) c.583-1109C>A (n.583-1109C>A) c.490C>A (p.Leu164Ile) c.334C>A (p.Leu112Ile) | |
| 3 | g.45772568G>A | CA433447657 | SLC6A20 | c.630C>T (p.Tyr210=) c.583-1110C>T (n.583-1110C>T) c.489C>T (p.Tyr163=) c.333C>T (p.Tyr111=) | |
| 3 | g.45772568G>C | CA352454130 | SLC6A20 | c.630C>G (p.Tyr210Ter) c.583-1110C>G (n.583-1110C>G) c.489C>G (p.Tyr163Ter) c.333C>G (p.Tyr111Ter) | |
| 3 | g.45772568G>T | CA352454133 | SLC6A20 | c.630C>A (p.Tyr210Ter) c.583-1110C>A (n.583-1110C>A) c.489C>A (p.Tyr163Ter) c.333C>A (p.Tyr111Ter) | |
| 3 | g.45772569T>A | CA352454135 | SLC6A20 | c.629A>T (p.Tyr210Phe) c.583-1111A>T (n.583-1111A>T) c.488A>T (p.Tyr163Phe) c.332A>T (p.Tyr111Phe) | |
| 3 | g.45772569T>C | CA352454138 | SLC6A20 | c.629A>G (p.Tyr210Cys) c.583-1111A>G (n.583-1111A>G) c.488A>G (p.Tyr163Cys) c.332A>G (p.Tyr111Cys) | |
| 3 | g.45772569T>G | CA352454140 | SLC6A20 | c.629A>C (p.Tyr210Ser) c.583-1111A>C (n.583-1111A>C) c.488A>C (p.Tyr163Ser) c.332A>C (p.Tyr111Ser) | |
| 3 | g.45772570A>C | CA352454142 | SLC6A20 | c.628T>G (p.Tyr210Asp) c.583-1112T>G (n.583-1112T>G) c.487T>G (p.Tyr163Asp) c.331T>G (p.Tyr111Asp) | |
| 3 | g.45772570A>G | CA352454144 | SLC6A20 | c.628T>C (p.Tyr210His) c.583-1112T>C (n.583-1112T>C) c.487T>C (p.Tyr163His) c.331T>C (p.Tyr111His) | |
| 3 | g.45772570A>T | CA352454147 | SLC6A20 | c.628T>A (p.Tyr210Asn) c.583-1112T>A (n.583-1112T>A) c.487T>A (p.Tyr163Asn) c.331T>A (p.Tyr111Asn) | |
| 3 | g.45772571G>A | CA433447658 | SLC6A20 | c.627C>T (p.Ile209=) c.583-1113C>T (n.583-1113C>T) c.486C>T (p.Ile162=) c.330C>T (p.Ile110=) | |
| 3 | g.45772571G>C | CA352454150 | SLC6A20 | c.627C>G (p.Ile209Met) c.583-1113C>G (n.583-1113C>G) c.486C>G (p.Ile162Met) c.330C>G (p.Ile110Met) | |
| 3 | g.45772571G>T | CA433447659 | SLC6A20 | c.627C>A (p.Ile209=) c.583-1113C>A (n.583-1113C>A) c.486C>A (p.Ile162=) c.330C>A (p.Ile110=) | |
| 3 | g.45772576_45772578del | CA2665411759 | SLC6A20 | c.625_627del (p.Ile209del) c.583-1115_583-1113del (n.583-1115_583-1113del) c.484_486del (p.Ile162del) c.328_330del (p.Ile110del) | gnomAD v4 |
| 3 | g.45772572A= | CA1361819895 | SLC6A20 | c.626T= (p.Ile209=) c.583-1114T= (n.583-1114T=) c.485T= (p.Ile162=) c.329T= (p.Ile110=) | |
| 3 | g.45772572A>C | CA352454153 | SLC6A20 | c.626T>G (p.Ile209Ser) c.583-1114T>G (n.583-1114T>G) c.485T>G (p.Ile162Ser) c.329T>G (p.Ile110Ser) | |
| 3 | g.45772572A>G | CA73646546 | SLC6A20 | c.626T>C (p.Ile209Thr) c.583-1114T>C (n.583-1114T>C) c.485T>C (p.Ile162Thr) c.329T>C (p.Ile110Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45772572A>T | CA352454158 | SLC6A20 | c.626T>A (p.Ile209Asn) c.583-1114T>A (n.583-1114T>A) c.485T>A (p.Ile162Asn) c.329T>A (p.Ile110Asn) | |
| 3 | g.45772573T>A | CA2351547 | SLC6A20 | c.625A>T (p.Ile209Phe) c.583-1115A>T (n.583-1115A>T) c.484A>T (p.Ile162Phe) c.328A>T (p.Ile110Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.45772573T>C | CA2351548 | SLC6A20 | c.625A>G (p.Ile209Val) c.583-1115A>G (n.583-1115A>G) c.484A>G (p.Ile162Val) c.328A>G (p.Ile110Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45772573T>G | CA352454160 | SLC6A20 | c.625A>C (p.Ile209Leu) c.583-1115A>C (n.583-1115A>C) c.484A>C (p.Ile162Leu) c.328A>C (p.Ile110Leu) | |
| 3 | g.45772573T= | CA1361819897 | SLC6A20 | c.625A= (p.Ile209=) c.583-1115A= (n.583-1115A=) c.484A= (p.Ile162=) c.328A= (p.Ile110=) | |
| 3 | g.45772574G>A | CA433447662 | SLC6A20 | c.624C>T (p.Ile208=) c.583-1116C>T (n.583-1116C>T) c.483C>T (p.Ile161=) c.327C>T (p.Ile109=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45772574G>C | CA2351549 | SLC6A20 | c.624C>G (p.Ile208Met) c.583-1116C>G (n.583-1116C>G) c.483C>G (p.Ile161Met) c.327C>G (p.Ile109Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.45772574G= | CA1361819900 | SLC6A20 | c.624C= (p.Ile208=) c.583-1116C= (n.583-1116C=) c.483C= (p.Ile161=) c.327C= (p.Ile109=) | |
| 3 | g.45772574G>T | CA433447663 | SLC6A20 | c.624C>A (p.Ile208=) c.583-1116C>A (n.583-1116C>A) c.483C>A (p.Ile161=) c.327C>A (p.Ile109=) | |
| 3 | g.45772575A>C | CA352454165 | SLC6A20 | c.623T>G (p.Ile208Ser) c.583-1117T>G (n.583-1117T>G) c.482T>G (p.Ile161Ser) c.326T>G (p.Ile109Ser) | |
| 3 | g.45772575A>G | CA352454168 | SLC6A20 | c.623T>C (p.Ile208Thr) c.583-1117T>C (n.583-1117T>C) c.482T>C (p.Ile161Thr) c.326T>C (p.Ile109Thr) | gnomAD v4 |
| 3 | g.45772575A>T | CA352454171 | SLC6A20 | c.623T>A (p.Ile208Asn) c.583-1117T>A (n.583-1117T>A) c.482T>A (p.Ile161Asn) c.326T>A (p.Ile109Asn) | |
| 3 | g.45772576T>A | CA352454173 | SLC6A20 | c.622A>T (p.Ile208Phe) c.583-1118A>T (n.583-1118A>T) c.481A>T (p.Ile161Phe) c.325A>T (p.Ile109Phe) | |
| 3 | g.45772576T>C | CA352454174 | SLC6A20 | c.622A>G (p.Ile208Val) c.583-1118A>G (n.583-1118A>G) c.481A>G (p.Ile161Val) c.325A>G (p.Ile109Val) | gnomAD v4 |
| 3 | g.45772576T>G | CA352454176 | SLC6A20 | c.622A>C (p.Ile208Leu) c.583-1118A>C (n.583-1118A>C) c.481A>C (p.Ile161Leu) c.325A>C (p.Ile109Leu) | |
| 3 | g.45772577G>A | CA433447664 | SLC6A20 | c.621C>T (p.Leu207=) c.583-1119C>T (n.583-1119C>T) c.480C>T (p.Leu160=) c.324C>T (p.Leu108=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.45772577G>C | CA433447665 | SLC6A20 | c.621C>G (p.Leu207=) c.583-1119C>G (n.583-1119C>G) c.480C>G (p.Leu160=) c.324C>G (p.Leu108=) | |
| 3 | g.45772577G= | CA1361819903 | SLC6A20 | c.621C= (p.Leu207=) c.583-1119C= (n.583-1119C=) c.480C= (p.Leu160=) c.324C= (p.Leu108=) | |
| 3 | g.45772577G>T | CA433447666 | SLC6A20 | c.621C>A (p.Leu207=) c.583-1119C>A (n.583-1119C>A) c.480C>A (p.Leu160=) c.324C>A (p.Leu108=) | |
| 3 | g.45772578A>C | CA352454179 | SLC6A20 | c.620T>G (p.Leu207Arg) c.583-1120T>G (n.583-1120T>G) c.479T>G (p.Leu160Arg) c.323T>G (p.Leu108Arg) | |
| 3 | g.45772578A>G | CA352454182 | SLC6A20 | c.620T>C (p.Leu207Pro) c.583-1120T>C (n.583-1120T>C) c.479T>C (p.Leu160Pro) c.323T>C (p.Leu108Pro) | gnomAD v4 |
| 3 | g.45772578A>T | CA352454183 | SLC6A20 | c.620T>A (p.Leu207His) c.583-1120T>A (n.583-1120T>A) c.479T>A (p.Leu160His) c.323T>A (p.Leu108His) | |
| 3 | g.45772579G>A | CA2351550 | SLC6A20 | c.619C>T (p.Leu207Phe) c.583-1121C>T (n.583-1121C>T) c.478C>T (p.Leu160Phe) c.322C>T (p.Leu108Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45772579G>C | CA352454186 | SLC6A20 | c.619C>G (p.Leu207Val) c.583-1121C>G (n.583-1121C>G) c.478C>G (p.Leu160Val) c.322C>G (p.Leu108Val) | |
| 3 | g.45772579G= | CA1361819905 | SLC6A20 | c.619C= (p.Leu207=) c.583-1121C= (n.583-1121C=) c.478C= (p.Leu160=) c.322C= (p.Leu108=) | |
| 3 | g.45772579G>T | CA352454190 | SLC6A20 | c.619C>A (p.Leu207Ile) c.583-1121C>A (n.583-1121C>A) c.478C>A (p.Leu160Ile) c.322C>A (p.Leu108Ile) | |
| 3 | g.45772580C>A | CA433447667 | SLC6A20 | c.618G>T (p.Val206=) c.583-1122G>T (n.583-1122G>T) c.477G>T (p.Val159=) c.321G>T (p.Val107=) | |
| 3 | g.45772580C>G | CA433447668 | SLC6A20 | c.618G>C (p.Val206=) c.583-1122G>C (n.583-1122G>C) c.477G>C (p.Val159=) c.321G>C (p.Val107=) | |
| 3 | g.45772580C>T | CA433447669 | SLC6A20 | c.618G>A (p.Val206=) c.583-1122G>A (n.583-1122G>A) c.477G>A (p.Val159=) c.321G>A (p.Val107=) | |
| 3 | g.45772581A>C | CA352454195 | SLC6A20 | c.617T>G (p.Val206Gly) c.583-1123T>G (n.583-1123T>G) c.476T>G (p.Val159Gly) c.320T>G (p.Val107Gly) | |
| 3 | g.45772581A>G | CA352454197 | SLC6A20 | c.617T>C (p.Val206Ala) c.583-1123T>C (n.583-1123T>C) c.476T>C (p.Val159Ala) c.320T>C (p.Val107Ala) | |
| 3 | g.45772581A>T | CA352454193 | SLC6A20 | c.617T>A (p.Val206Glu) c.583-1123T>A (n.583-1123T>A) c.476T>A (p.Val159Glu) c.320T>A (p.Val107Glu) | |
| 3 | g.45772582C>A | CA2351552 | SLC6A20 | c.616G>T (p.Val206Leu) c.583-1124G>T (n.583-1124G>T) c.475G>T (p.Val159Leu) c.319G>T (p.Val107Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45772582C= | CA1361819908 | SLC6A20 | c.616G= (p.Val206=) c.583-1124G= (n.583-1124G=) c.475G= (p.Val159=) c.319G= (p.Val107=) | |
| 3 | g.45772582C>G | CA352454200 | SLC6A20 | c.616G>C (p.Val206Leu) c.583-1124G>C (n.583-1124G>C) c.475G>C (p.Val159Leu) c.319G>C (p.Val107Leu) | |
| 3 | g.45772582C>T | CA2351551 | SLC6A20 | c.616G>A (p.Val206Met) c.583-1124G>A (n.583-1124G>A) c.475G>A (p.Val159Met) c.319G>A (p.Val107Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45772583G>A | CA2351553 | SLC6A20 | c.615C>T (p.Cys205=) c.583-1125C>T (n.583-1125C>T) c.474C>T (p.Cys158=) c.318C>T (p.Cys106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.45772583G>C | CA352454210 | SLC6A20 | c.615C>G (p.Cys205Trp) c.583-1125C>G (n.583-1125C>G) c.474C>G (p.Cys158Trp) c.318C>G (p.Cys106Trp) | |
| 3 | g.45772583G= | CA1361819912 | SLC6A20 | c.615C= (p.Cys205=) c.583-1125C= (n.583-1125C=) c.474C= (p.Cys158=) c.318C= (p.Cys106=) | |
| 3 | g.45772583G>T | CA352454211 | SLC6A20 | c.615C>A (p.Cys205Ter) c.583-1125C>A (n.583-1125C>A) c.474C>A (p.Cys158Ter) c.318C>A (p.Cys106Ter) | |
| 3 | g.45772584C>A | CA352454212 | SLC6A20 | c.614G>T (p.Cys205Phe) c.583-1126G>T (n.583-1126G>T) c.473G>T (p.Cys158Phe) c.317G>T (p.Cys106Phe) | |
| 3 | g.45772584C= | CA1361819915 | SLC6A20 | c.614G= (p.Cys205=) c.583-1126G= (n.583-1126G=) c.473G= (p.Cys158=) c.317G= (p.Cys106=) | |
| 3 | g.45772584C>G | CA73646597 | SLC6A20 | c.614G>C (p.Cys205Ser) c.583-1126G>C (n.583-1126G>C) c.473G>C (p.Cys158Ser) c.317G>C (p.Cys106Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45772584C>T | CA352454214 | SLC6A20 | c.614G>A (p.Cys205Tyr) c.583-1126G>A (n.583-1126G>A) c.473G>A (p.Cys158Tyr) c.317G>A (p.Cys106Tyr) | |
| 3 | g.45772585A= | CA1361819917 | SLC6A20 | c.613T= (p.Cys205=) c.583-1127T= (n.583-1127T=) c.472T= (p.Cys158=) c.316T= (p.Cys106=) | |
| 3 | g.45772585A>C | CA352454226 | SLC6A20 | c.613T>G (p.Cys205Gly) c.583-1127T>G (n.583-1127T>G) c.472T>G (p.Cys158Gly) c.316T>G (p.Cys106Gly) | dbSNP |
| 3 | g.45772585A>G | CA352454217 | SLC6A20 | c.613T>C (p.Cys205Arg) c.583-1127T>C (n.583-1127T>C) c.472T>C (p.Cys158Arg) c.316T>C (p.Cys106Arg) | dbSNP |
| 3 | g.45772585A>T | CA352454219 | SLC6A20 | c.613T>A (p.Cys205Ser) c.583-1127T>A (n.583-1127T>A) c.472T>A (p.Cys158Ser) c.316T>A (p.Cys106Ser) | |
| 3 | g.45772586A>C | CA352454229 | SLC6A20 | c.612T>G (p.Tyr204Ter) c.583-1128T>G (n.583-1128T>G) c.471T>G (p.Tyr157Ter) c.315T>G (p.Tyr105Ter) | |
| 3 | g.45772586A>G | CA433447670 | SLC6A20 | c.612T>C (p.Tyr204=) c.583-1128T>C (n.583-1128T>C) c.471T>C (p.Tyr157=) c.315T>C (p.Tyr105=) | gnomAD v4 |
| 3 | g.45772586A>T | CA352454234 | SLC6A20 | c.612T>A (p.Tyr204Ter) c.583-1128T>A (n.583-1128T>A) c.471T>A (p.Tyr157Ter) c.315T>A (p.Tyr105Ter) | |
| 3 | g.45772587T>A | CA352454236 | SLC6A20 | c.611A>T (p.Tyr204Phe) c.583-1129A>T (n.583-1129A>T) c.470A>T (p.Tyr157Phe) c.314A>T (p.Tyr105Phe) | |
| 3 | g.45772587T>C | CA352454237 | SLC6A20 | c.611A>G (p.Tyr204Cys) c.583-1129A>G (n.583-1129A>G) c.470A>G (p.Tyr157Cys) c.314A>G (p.Tyr105Cys) | |
| 3 | g.45772587T>G | CA352454238 | SLC6A20 | c.611A>C (p.Tyr204Ser) c.583-1129A>C (n.583-1129A>C) c.470A>C (p.Tyr157Ser) c.314A>C (p.Tyr105Ser) | |
| 3 | g.45772588A= | CA1361819918 | SLC6A20 | c.610T= (p.Tyr204=) c.583-1130T= (n.583-1130T=) c.469T= (p.Tyr157=) c.313T= (p.Tyr105=) | |
| 3 | g.45772588A>C | CA352454241 | SLC6A20 | c.610T>G (p.Tyr204Asp) c.583-1130T>G (n.583-1130T>G) c.469T>G (p.Tyr157Asp) c.313T>G (p.Tyr105Asp) | gnomAD v4 |
| 3 | g.45772588A>G | CA352454239 | SLC6A20 | c.610T>C (p.Tyr204His) c.583-1130T>C (n.583-1130T>C) c.469T>C (p.Tyr157His) c.313T>C (p.Tyr105His) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.45772588A>T | CA352454240 | SLC6A20 | c.610T>A (p.Tyr204Asn) c.583-1130T>A (n.583-1130T>A) c.469T>A (p.Tyr157Asn) c.313T>A (p.Tyr105Asn) | COSMIC |
| 3 | g.45772589G>A | CA433447671 | SLC6A20 | c.609C>T (p.Pro203=) c.583-1131C>T (n.583-1131C>T) c.468C>T (p.Pro156=) c.312C>T (p.Pro104=) | |
| 3 | g.45772589G>C | CA2351554 | SLC6A20 | c.609C>G (p.Pro203=) c.583-1131C>G (n.583-1131C>G) c.468C>G (p.Pro156=) c.312C>G (p.Pro104=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.45772589G= | CA1361819921 | SLC6A20 | c.609C= (p.Pro203=) c.583-1131C= (n.583-1131C=) c.468C= (p.Pro156=) c.312C= (p.Pro104=) | |
| 3 | g.45772589G>T | CA433447672 | SLC6A20 | c.609C>A (p.Pro203=) c.583-1131C>A (n.583-1131C>A) c.468C>A (p.Pro156=) c.312C>A (p.Pro104=) | |
| 3 | g.45772590G>A | CA352454244 | SLC6A20 | c.608C>T (p.Pro203Leu) c.583-1132C>T (n.583-1132C>T) c.467C>T (p.Pro156Leu) c.311C>T (p.Pro104Leu) | gnomAD v4 |
| 3 | g.45772590G>C | CA352454245 | SLC6A20 | c.608C>G (p.Pro203Arg) c.583-1132C>G (n.583-1132C>G) c.467C>G (p.Pro156Arg) c.311C>G (p.Pro104Arg) | |
| 3 | g.45772590G>T | CA352454248 | SLC6A20 | c.608C>A (p.Pro203His) c.583-1132C>A (n.583-1132C>A) c.467C>A (p.Pro156His) c.311C>A (p.Pro104His) | |
| 3 | g.45772591G>A | CA2351555 | SLC6A20 | c.607C>T (p.Pro203Ser) c.583-1133C>T (n.583-1133C>T) c.466C>T (p.Pro156Ser) c.310C>T (p.Pro104Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.45772591G>C | CA352454254 | SLC6A20 | c.607C>G (p.Pro203Ala) c.583-1133C>G (n.583-1133C>G) c.466C>G (p.Pro156Ala) c.310C>G (p.Pro104Ala) | |
| 3 | g.45772591G= | CA1361819924 | SLC6A20 | c.607C= (p.Pro203=) c.583-1133C= (n.583-1133C=) c.466C= (p.Pro156=) c.310C= (p.Pro104=) | |
| 3 | g.45772591G>T | CA352454256 | SLC6A20 | c.607C>A (p.Pro203Thr) c.583-1133C>A (n.583-1133C>A) c.466C>A (p.Pro156Thr) c.310C>A (p.Pro104Thr) | |
| 3 | g.45772592C>A | CA433447674 | SLC6A20 | c.606G>T (p.Leu202=) c.583-1134G>T (n.583-1134G>T) c.465G>T (p.Leu155=) c.309G>T (p.Leu103=) | |
| 3 | g.45772592C>G | CA433447675 | SLC6A20 | c.606G>C (p.Leu202=) c.583-1134G>C (n.583-1134G>C) c.465G>C (p.Leu155=) c.309G>C (p.Leu103=) | |
| 3 | g.45772592C>T | CA433447673 | SLC6A20 | c.606G>A (p.Leu202=) c.583-1134G>A (n.583-1134G>A) c.465G>A (p.Leu155=) c.309G>A (p.Leu103=) | dbSNP |
| 3 | g.45772593A>C | CA352454257 | SLC6A20 | c.605T>G (p.Leu202Arg) c.583-1135T>G (n.583-1135T>G) c.464T>G (p.Leu155Arg) c.308T>G (p.Leu103Arg) | |
| 3 | g.45772593A>G | CA352454258 | SLC6A20 | c.605T>C (p.Leu202Pro) c.583-1135T>C (n.583-1135T>C) c.464T>C (p.Leu155Pro) c.308T>C (p.Leu103Pro) | |
| 3 | g.45772593A>T | CA352454259 | SLC6A20 | c.605T>A (p.Leu202Gln) c.583-1135T>A (n.583-1135T>A) c.464T>A (p.Leu155Gln) c.308T>A (p.Leu103Gln) | |
| 3 | g.45772594G>A | CA433447676 | SLC6A20 | c.604C>T (p.Leu202=) c.583-1136C>T (n.583-1136C>T) c.463C>T (p.Leu155=) c.307C>T (p.Leu103=) | gnomAD v4 |
| 3 | g.45772594G>C | CA352454260 | SLC6A20 | c.604C>G (p.Leu202Val) c.583-1136C>G (n.583-1136C>G) c.463C>G (p.Leu155Val) c.307C>G (p.Leu103Val) | |
| 3 | g.45772594G>T | CA352454261 | SLC6A20 | c.604C>A (p.Leu202Met) c.583-1136C>A (n.583-1136C>A) c.463C>A (p.Leu155Met) c.307C>A (p.Leu103Met) | |
| 3 | g.45772595T>A | CA433447679 | SLC6A20 | c.603A>T (p.Ser201=) c.583-1137A>T (n.583-1137A>T) c.462A>T (p.Ser154=) c.306A>T (p.Ser102=) | |
| 3 | g.45772595T>C | CA433447678 | SLC6A20 | c.603A>G (p.Ser201=) c.583-1137A>G (n.583-1137A>G) c.462A>G (p.Ser154=) c.306A>G (p.Ser102=) | |
| 3 | g.45772595T>G | CA433447677 | SLC6A20 | c.603A>C (p.Ser201=) c.583-1137A>C (n.583-1137A>C) c.462A>C (p.Ser154=) c.306A>C (p.Ser102=) | |
| 3 | g.45772596G>A | CA352454262 | SLC6A20 | c.602C>T (p.Ser201Leu) c.583-1138C>T (n.583-1138C>T) c.461C>T (p.Ser154Leu) c.305C>T (p.Ser102Leu) | |
| 3 | g.45772596G>C | CA352454266 | SLC6A20 | c.602C>G (p.Ser201Ter) c.583-1138C>G (n.583-1138C>G) c.461C>G (p.Ser154Ter) c.305C>G (p.Ser102Ter) | |
| 3 | g.45772596G>T | CA352454265 | SLC6A20 | c.602C>A (p.Ser201Ter) c.583-1138C>A (n.583-1138C>A) c.461C>A (p.Ser154Ter) c.305C>A (p.Ser102Ter) | |
| 3 | g.45772597A= | CA1361819926 | SLC6A20 | c.601T= (p.Ser201=) c.583-1139T= (n.583-1139T=) c.460T= (p.Ser154=) c.304T= (p.Ser102=) | |
| 3 | g.45772597A>C | CA352454269 | SLC6A20 | c.601T>G (p.Ser201Ala) c.583-1139T>G (n.583-1139T>G) c.460T>G (p.Ser154Ala) c.304T>G (p.Ser102Ala) | |
| 3 | g.45772597A>G | CA73646605 | SLC6A20 | c.601T>C (p.Ser201Pro) c.583-1139T>C (n.583-1139T>C) c.460T>C (p.Ser154Pro) c.304T>C (p.Ser102Pro) | dbSNP |
| 3 | g.45772597A>T | CA352454271 | SLC6A20 | c.601T>A (p.Ser201Thr) c.583-1139T>A (n.583-1139T>A) c.460T>A (p.Ser154Thr) c.304T>A (p.Ser102Thr) | |
| 3 | g.45772598C>A | CA433447680 | SLC6A20 | c.600G>T (p.Ala200=) c.583-1140G>T (n.583-1140G>T) c.459G>T (p.Ala153=) c.303G>T (p.Ala101=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.45772598C= | CA1361819929 | SLC6A20 | c.600G= (p.Ala200=) c.583-1140G= (n.583-1140G=) c.459G= (p.Ala153=) c.303G= (p.Ala101=) | |
| 3 | g.45772598C>G | CA433447681 | SLC6A20 | c.600G>C (p.Ala200=) c.583-1140G>C (n.583-1140G>C) c.459G>C (p.Ala153=) c.303G>C (p.Ala101=) | |
| 3 | g.45772598C>T | CA2351556 | SLC6A20 | c.600G>A (p.Ala200=) c.583-1140G>A (n.583-1140G>A) c.459G>A (p.Ala153=) c.303G>A (p.Ala101=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.45772599G>A | CA2351557 | SLC6A20 | c.599C>T (p.Ala200Val) c.583-1141C>T (n.583-1141C>T) c.458C>T (p.Ala153Val) c.302C>T (p.Ala101Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45772599G>C | CA352454272 | SLC6A20 | c.599C>G (p.Ala200Gly) c.583-1141C>G (n.583-1141C>G) c.458C>G (p.Ala153Gly) c.302C>G (p.Ala101Gly) | |
| 3 | g.45772599G= | CA1361819931 | SLC6A20 | c.599C= (p.Ala200=) c.583-1141C= (n.583-1141C=) c.458C= (p.Ala153=) c.302C= (p.Ala101=) | |
| 3 | g.45772599G>T | CA352454273 | SLC6A20 | c.599C>A (p.Ala200Glu) c.583-1141C>A (n.583-1141C>A) c.458C>A (p.Ala153Glu) c.302C>A (p.Ala101Glu) | dbSNP gnomAD v4 |
| 3 | g.45772600C>A | CA352454274 | SLC6A20 | c.598G>T (p.Ala200Ser) c.583-1142G>T (n.583-1142G>T) c.457G>T (p.Ala153Ser) c.301G>T (p.Ala101Ser) | |
| 3 | g.45772600C= | CA1361819934 | SLC6A20 | c.598G= (p.Ala200=) c.583-1142G= (n.583-1142G=) c.457G= (p.Ala153=) c.301G= (p.Ala101=) | |
| 3 | g.45772600C>G | CA352454275 | SLC6A20 | c.598G>C (p.Ala200Pro) c.583-1142G>C (n.583-1142G>C) c.457G>C (p.Ala153Pro) c.301G>C (p.Ala101Pro) | gnomAD v4 |
| 3 | g.45772600C>T | CA2351558 | SLC6A20 | c.598G>A (p.Ala200Thr) c.583-1142G>A (n.583-1142G>A) c.457G>A (p.Ala153Thr) c.301G>A (p.Ala101Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.45772601C>A | CA2351559 | SLC6A20 | c.597G>T (p.Thr199=) c.583-1143G>T (n.583-1143G>T) c.456G>T (p.Thr152=) c.300G>T (p.Thr100=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.45772601C= | CA1361819936 | SLC6A20 | c.597G= (p.Thr199=) c.583-1143G= (n.583-1143G=) c.456G= (p.Thr152=) c.300G= (p.Thr100=) | |
| 3 | g.45772601C>G | CA433447682 | SLC6A20 | c.597G>C (p.Thr199=) c.583-1143G>C (n.583-1143G>C) c.456G>C (p.Thr152=) c.300G>C (p.Thr100=) | |
| 3 | g.45772601C>T | CA73646620 | SLC6A20 | c.597G>A (p.Thr199=) c.583-1143G>A (n.583-1143G>A) c.456G>A (p.Thr152=) c.300G>A (p.Thr100=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45772602G>A | CA117101 | SLC6A20 | c.596C>T (p.Thr199Met) c.583-1144C>T (n.583-1144C>T) c.455C>T (p.Thr152Met) c.299C>T (p.Thr100Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45772602G>C | CA352454282 | SLC6A20 | c.596C>G (p.Thr199Arg) c.583-1144C>G (n.583-1144C>G) c.455C>G (p.Thr152Arg) c.299C>G (p.Thr100Arg) | |
| 3 | g.45772602G= | CA1361819939 | SLC6A20 | c.596C= (p.Thr199=) c.583-1144C= (n.583-1144C=) c.455C= (p.Thr152=) c.299C= (p.Thr100=) | |
| 3 | g.45772602G>T | CA352454285 | SLC6A20 | c.596C>A (p.Thr199Lys) c.583-1144C>A (n.583-1144C>A) c.455C>A (p.Thr152Lys) c.299C>A (p.Thr100Lys) | |
| 3 | g.45772603T>A | CA352454295 | SLC6A20 | c.595A>T (p.Thr199Ser) c.583-1145A>T (n.583-1145A>T) c.454A>T (p.Thr152Ser) c.298A>T (p.Thr100Ser) | |
| 3 | g.45772603T>C | CA352454296 | SLC6A20 | c.595A>G (p.Thr199Ala) c.583-1145A>G (n.583-1145A>G) c.454A>G (p.Thr152Ala) c.298A>G (p.Thr100Ala) | |
| 3 | g.45772603T>G | CA352454299 | SLC6A20 | c.595A>C (p.Thr199Pro) c.583-1145A>C (n.583-1145A>C) c.454A>C (p.Thr152Pro) c.298A>C (p.Thr100Pro) | |
| 3 | g.45772604G>A | CA2351560 | SLC6A20 | c.594C>T (p.Phe198=) c.583-1146C>T (n.583-1146C>T) c.453C>T (p.Phe151=) c.297C>T (p.Phe99=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45772604G>C | CA352454303 | SLC6A20 | c.594C>G (p.Phe198Leu) c.583-1146C>G (n.583-1146C>G) c.453C>G (p.Phe151Leu) c.297C>G (p.Phe99Leu) | |
| 3 | g.45772604G= | CA1361819948 | SLC6A20 | c.594C= (p.Phe198=) c.583-1146C= (n.583-1146C=) c.453C= (p.Phe151=) c.297C= (p.Phe99=) | |
| 3 | g.45772604G>T | CA352454310 | SLC6A20 | c.594C>A (p.Phe198Leu) c.583-1146C>A (n.583-1146C>A) c.453C>A (p.Phe151Leu) c.297C>A (p.Phe99Leu) | |
| 3 | g.45772605A>C | CA352454311 | SLC6A20 | c.593T>G (p.Phe198Cys) c.583-1147T>G (n.583-1147T>G) c.452T>G (p.Phe151Cys) c.296T>G (p.Phe99Cys) | |
| 3 | g.45772605A>G | CA352454315 | SLC6A20 | c.593T>C (p.Phe198Ser) c.583-1147T>C (n.583-1147T>C) c.452T>C (p.Phe151Ser) c.296T>C (p.Phe99Ser) | |
| 3 | g.45772605A>T | CA352454318 | SLC6A20 | c.593T>A (p.Phe198Tyr) c.583-1147T>A (n.583-1147T>A) c.452T>A (p.Phe151Tyr) c.296T>A (p.Phe99Tyr) | |
| 3 | g.45772606A>C | CA352454319 | SLC6A20 | c.592T>G (p.Phe198Val) c.583-1148T>G (n.583-1148T>G) c.451T>G (p.Phe151Val) c.295T>G (p.Phe99Val) | |
| 3 | g.45772606A>G | CA352454320 | SLC6A20 | c.592T>C (p.Phe198Leu) c.583-1148T>C (n.583-1148T>C) c.451T>C (p.Phe151Leu) c.295T>C (p.Phe99Leu) | gnomAD v4 |
| 3 | g.45772606A>T | CA352454321 | SLC6A20 | c.592T>A (p.Phe198Ile) c.583-1148T>A (n.583-1148T>A) c.451T>A (p.Phe151Ile) c.295T>A (p.Phe99Ile) | |
| 3 | g.45772607A>C | CA352454323 | SLC6A20 | c.591T>G (p.Tyr197Ter) c.583-1149T>G (n.583-1149T>G) c.450T>G (p.Tyr150Ter) c.294T>G (p.Tyr98Ter) | |
| 3 | g.45772607A>G | CA433447683 | SLC6A20 | c.591T>C (p.Tyr197=) c.583-1149T>C (n.583-1149T>C) c.450T>C (p.Tyr150=) c.294T>C (p.Tyr98=) | |
| 3 | g.45772607A>T | CA352454322 | SLC6A20 | c.591T>A (p.Tyr197Ter) c.583-1149T>A (n.583-1149T>A) c.450T>A (p.Tyr150Ter) c.294T>A (p.Tyr98Ter) | |
| 3 | g.45772608T>A | CA352454324 | SLC6A20 | c.590A>T (p.Tyr197Phe) c.583-1150A>T (n.583-1150A>T) c.449A>T (p.Tyr150Phe) c.293A>T (p.Tyr98Phe) | |
| 3 | g.45772608T>C | CA352454328 | SLC6A20 | c.590A>G (p.Tyr197Cys) c.583-1150A>G (n.583-1150A>G) c.449A>G (p.Tyr150Cys) c.293A>G (p.Tyr98Cys) | |
| 3 | g.45772608T>G | CA352454326 | SLC6A20 | c.590A>C (p.Tyr197Ser) c.583-1150A>C (n.583-1150A>C) c.449A>C (p.Tyr150Ser) c.293A>C (p.Tyr98Ser) | |
| 3 | g.45772609A>C | CA352454329 | SLC6A20 | c.589T>G (p.Tyr197Asp) c.583-1151T>G (n.583-1151T>G) c.448T>G (p.Tyr150Asp) c.292T>G (p.Tyr98Asp) | |
| 3 | g.45772609A>G | CA352454330 | SLC6A20 | c.589T>C (p.Tyr197His) c.583-1151T>C (n.583-1151T>C) c.448T>C (p.Tyr150His) c.292T>C (p.Tyr98His) | |
| 3 | g.45772609A>T | CA352454333 | SLC6A20 | c.589T>A (p.Tyr197Asn) c.583-1151T>A (n.583-1151T>A) c.448T>A (p.Tyr150Asn) c.292T>A (p.Tyr98Asn) | |
| 3 | g.45772609dup | CA2665411760 | SLC6A20 | c.589dup (p.Tyr197LeufsTer?) c.583-1151dup (n.583-1151dup) c.448dup (p.Tyr150LeufsTer?) c.292dup (p.Tyr98LeufsTer?) | gnomAD v4 |
| 3 | g.45772610C>A | CA433447684 | SLC6A20 | c.588G>T (p.Val196=) c.583-1152G>T (n.583-1152G>T) c.447G>T (p.Val149=) c.291G>T (p.Val97=) | |
| 3 | g.45772610C= | CA1361819953 | SLC6A20 | c.588G= (p.Val196=) c.583-1152G= (n.583-1152G=) c.447G= (p.Val149=) c.291G= (p.Val97=) | |
| 3 | g.45772610C>G | CA2351561 | SLC6A20 | c.588G>C (p.Val196=) c.583-1152G>C (n.583-1152G>C) c.447G>C (p.Val149=) c.291G>C (p.Val97=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.45772610C>T | CA433447685 | SLC6A20 | c.588G>A (p.Val196=) c.583-1152G>A (n.583-1152G>A) c.447G>A (p.Val149=) c.291G>A (p.Val97=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.45772611A= | CA1361819956 | SLC6A20 | c.587T= (p.Val196=) c.583-1153T= (n.583-1153T=) c.446T= (p.Val149=) c.290T= (p.Val97=) | |
| 3 | g.45772611A>C | CA73646640 | SLC6A20 | c.587T>G (p.Val196Gly) c.583-1153T>G (n.583-1153T>G) c.446T>G (p.Val149Gly) c.290T>G (p.Val97Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.45772611A>G | CA352454337 | SLC6A20 | c.587T>C (p.Val196Ala) c.583-1153T>C (n.583-1153T>C) c.446T>C (p.Val149Ala) c.290T>C (p.Val97Ala) | |
| 3 | g.45772611A>T | CA352454339 | SLC6A20 | c.587T>A (p.Val196Glu) c.583-1153T>A (n.583-1153T>A) c.446T>A (p.Val149Glu) c.290T>A (p.Val97Glu) | dbSNP |
| 3 | g.45772612C>A | CA352454340 | SLC6A20 | c.586G>T (p.Val196Leu) c.583-1154G>T (n.583-1154G>T) c.445G>T (p.Val149Leu) c.289G>T (p.Val97Leu) | |
| 3 | g.45772612C>G | CA352454345 | SLC6A20 | c.586G>C (p.Val196Leu) c.583-1154G>C (n.583-1154G>C) c.445G>C (p.Val149Leu) c.289G>C (p.Val97Leu) | |
| 3 | g.45772612C>T | CA352454343 | SLC6A20 | c.586G>A (p.Val196Met) c.583-1154G>A (n.583-1154G>A) c.445G>A (p.Val149Met) c.289G>A (p.Val97Met) | |
| 3 | g.45772613C>A | CA433447686 | SLC6A20 | c.585G>T (p.Val195=) c.583-1155G>T (n.583-1155G>T) c.444G>T (p.Val148=) c.288G>T (p.Val96=) | |
| 3 | g.45772613C= | CA1361819959 | SLC6A20 | c.585G= (p.Val195=) c.583-1155G= (n.583-1155G=) c.444G= (p.Val148=) c.288G= (p.Val96=) | |
| 3 | g.45772613C>G | CA433447687 | SLC6A20 | c.585G>C (p.Val195=) c.583-1155G>C (n.583-1155G>C) c.444G>C (p.Val148=) c.288G>C (p.Val96=) | |
| 3 | g.45772613C>T | CA2351562 | SLC6A20 | c.585G>A (p.Val195=) c.583-1155G>A (n.583-1155G>A) c.444G>A (p.Val148=) c.288G>A (p.Val96=) | dbSNP ExAC gnomAD v2 |
| 3 | g.45772614A= | CA1361819964 | SLC6A20 | c.584T= (p.Val195=) c.583-1156T= (n.583-1156T=) c.443T= (p.Val148=) c.287T= (p.Val96=) | |
| 3 | g.45772614A>C | CA352454352 | SLC6A20 | c.584T>G (p.Val195Gly) c.583-1156T>G (n.583-1156T>G) c.443T>G (p.Val148Gly) c.287T>G (p.Val96Gly) | gnomAD v4 |
| 3 | g.45772614A>G | CA352454354 | SLC6A20 | c.584T>C (p.Val195Ala) c.583-1156T>C (n.583-1156T>C) c.443T>C (p.Val148Ala) c.287T>C (p.Val96Ala) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.45772614A>T | CA352454355 | SLC6A20 | c.584T>A (p.Val195Glu) c.583-1156T>A (n.583-1156T>A) c.443T>A (p.Val148Glu) c.287T>A (p.Val96Glu) | |
| 3 | g.45772615C>A | CA352454358 | SLC6A20 | c.583G>T (p.Val195Leu) c.583-1157G>T (n.583-1157G>T) c.442G>T (p.Val148Leu) c.286G>T (p.Val96Leu) | |
| 3 | g.45772615C>G | CA352454365 | SLC6A20 | c.583G>C (p.Val195Leu) c.583-1157G>C (n.583-1157G>C) c.442G>C (p.Val148Leu) c.286G>C (p.Val96Leu) | |
| 3 | g.45772615C>T | CA352454361 | SLC6A20 | c.583G>A (p.Val195Met) c.583-1157G>A (n.583-1157G>A) c.442G>A (p.Val148Met) c.286G>A (p.Val96Met) | |
| 3 | g.45772616C>A | CA2351563 | SLC6A20 | c.583-1G>T (n.583-1G>T) c.583-1158G>T (n.583-1158G>T) c.442-1G>T (n.442-1G>T) c.286-1G>T (n.286-1G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.45772616C= | CA1361819967 | SLC6A20 | c.583-1G= (n.583-1G=) c.583-1158G= (n.583-1158G=) c.442-1G= (n.442-1G=) c.286-1G= (n.286-1G=) | |
| 3 | g.45772616C>G | CA352454368 | SLC6A20 | c.583-1G>C (n.583-1G>C) c.583-1158G>C (n.583-1158G>C) c.442-1G>C (n.442-1G>C) c.286-1G>C (n.286-1G>C) | |
| 3 | g.45772616C>T | CA352454370 | SLC6A20 | c.583-1G>A (n.583-1G>A) c.583-1158G>A (n.583-1158G>A) c.442-1G>A (n.442-1G>A) c.286-1G>A (n.286-1G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.45772617T>A | CA352454372 | SLC6A20 | c.583-2A>T (n.583-2A>T) c.583-1159A>T (n.583-1159A>T) c.442-2A>T (n.442-2A>T) c.286-2A>T (n.286-2A>T) | |
| 3 | g.45772617T>C | CA352454375 | SLC6A20 | c.583-2A>G (n.583-2A>G) c.583-1159A>G (n.583-1159A>G) c.442-2A>G (n.442-2A>G) c.286-2A>G (n.286-2A>G) | |
| 3 | g.45772617T>G | CA352454376 | SLC6A20 | c.583-2A>C (n.583-2A>C) c.583-1159A>C (n.583-1159A>C) c.442-2A>C (n.442-2A>C) c.286-2A>C (n.286-2A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.45772617T= | CA1361819971 | SLC6A20 | c.583-2A= (n.583-2A=) c.583-1159A= (n.583-1159A=) c.442-2A= (n.442-2A=) c.286-2A= (n.286-2A=) | |
| 3 | g.45772618G>A | CA2665411761 | SLC6A20 | c.583-3C>T (n.583-3C>T) c.583-1160C>T (n.583-1160C>T) c.442-3C>T (n.442-3C>T) c.286-3C>T (n.286-3C>T) | gnomAD v4 |
| 3 | g.45772618G>C | CA2351564 | SLC6A20 | c.583-3C>G (n.583-3C>G) c.583-1160C>G (n.583-1160C>G) c.442-3C>G (n.442-3C>G) c.286-3C>G (n.286-3C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.45772618G= | CA1361819974 | SLC6A20 | c.583-3C= (n.583-3C=) c.583-1160C= (n.583-1160C=) c.442-3C= (n.442-3C=) c.286-3C= (n.286-3C=) | |
| 3 | g.45772618G>T | CA2351565 | SLC6A20 | c.583-3C>A (n.583-3C>A) c.583-1160C>A (n.583-1160C>A) c.442-3C>A (n.442-3C>A) c.286-3C>A (n.286-3C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.45772619C>A | CA542708592 | SLC6A20 | c.583-4G>T (n.583-4G>T) c.583-1161G>T (n.583-1161G>T) c.442-4G>T (n.442-4G>T) c.286-4G>T (n.286-4G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.45772619C= | CA1361819980 | SLC6A20 | c.583-4G= (n.583-4G=) c.583-1161G= (n.583-1161G=) c.442-4G= (n.442-4G=) c.286-4G= (n.286-4G=) | |
| 3 | g.45772619C>T | CA2351566 | SLC6A20 | c.583-4G>A (n.583-4G>A) c.583-1161G>A (n.583-1161G>A) c.442-4G>A (n.442-4G>A) c.286-4G>A (n.286-4G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.45772620G>A | CA2351567 | SLC6A20 | c.583-5C>T (n.583-5C>T) c.583-1162C>T (n.583-1162C>T) c.442-5C>T (n.442-5C>T) c.286-5C>T (n.286-5C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.45772620G= | CA1361819986 | SLC6A20 | c.583-5C= (n.583-5C=) c.583-1162C= (n.583-1162C=) c.442-5C= (n.442-5C=) c.286-5C= (n.286-5C=) |