| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.1232276A>C | CA359054828 | SLC6A18 | c.218A>C (p.His73Pro) n.287A>C | |
| 5 | g.1232276A>G | CA359054830 | SLC6A18 | c.218A>G (p.His73Arg) n.287A>G | |
| 5 | g.1232276A>T | CA359054829 | SLC6A18 | c.218A>T (p.His73Leu) n.287A>T | |
| 5 | g.1232277C>A | CA359054831 | SLC6A18 | c.219C>A (p.His73Gln) n.288C>A | |
| 5 | g.1232277C= | CA1522548047 | SLC6A18 | c.219C= (p.His73=) n.288C= | |
| 5 | g.1232277C>G | CA359054832 | SLC6A18 | c.219C>G (p.His73Gln) n.288C>G | gnomAD v4 |
| 5 | g.1232277C>T | CA3183452 | SLC6A18 | c.219C>T (p.His73=) n.288C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232278G>A | CA3183453 | SLC6A18 | c.220G>A (p.Val74Ile) n.289G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232278G>C | CA359054833 | SLC6A18 | c.220G>C (p.Val74Leu) n.289G>C | |
| 5 | g.1232278G= | CA1522548049 | SLC6A18 | c.220G= (p.Val74=) n.289G= | |
| 5 | g.1232278G>T | CA359054834 | SLC6A18 | c.220G>T (p.Val74Phe) n.289G>T | |
| 5 | g.1232279T>A | CA359054835 | SLC6A18 | c.221T>A (p.Val74Asp) n.290T>A | |
| 5 | g.1232279T>C | CA359054836 | SLC6A18 | c.221T>C (p.Val74Ala) n.290T>C | |
| 5 | g.1232279T>G | CA359054837 | SLC6A18 | c.221T>G (p.Val74Gly) n.290T>G | |
| 5 | g.1232280C>A | CA443007711 | SLC6A18 | c.222C>A (p.Val74=) n.291C>A | |
| 5 | g.1232280C= | CA1522548050 | SLC6A18 | c.222C= (p.Val74=) n.291C= | |
| 5 | g.1232280C>G | CA443007713 | SLC6A18 | c.222C>G (p.Val74=) n.291C>G | |
| 5 | g.1232280C>T | CA3183454 | SLC6A18 | c.222C>T (p.Val74=) n.291C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.1232281G>A | CA3183455 | SLC6A18 | c.223G>A (p.Glu75Lys) n.292G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.1232281G>C | CA359054838 | SLC6A18 | c.223G>C (p.Glu75Gln) n.292G>C | |
| 5 | g.1232281G= | CA1522548051 | SLC6A18 | c.223G= (p.Glu75=) n.292G= | |
| 5 | g.1232281G>T | CA359054839 | SLC6A18 | c.223G>T (p.Glu75Ter) n.292G>T | |
| 5 | g.1232282A= | CA1522548053 | SLC6A18 | c.224A= (p.Glu75=) n.293A= | |
| 5 | g.1232282A>C | CA359054841 | SLC6A18 | c.224A>C (p.Glu75Ala) n.293A>C | |
| 5 | g.1232282A>G | CA3183456 | SLC6A18 | c.224A>G (p.Glu75Gly) n.293A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1232282A>T | CA359054840 | SLC6A18 | c.224A>T (p.Glu75Val) n.293A>T | |
| 5 | g.1232283G>A | CA443007730 | SLC6A18 | c.225G>A (p.Glu75=) n.294G>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1232283G>C | CA359054842 | SLC6A18 | c.225G>C (p.Glu75Asp) n.294G>C | |
| 5 | g.1232283G= | CA1522548055 | SLC6A18 | c.225G= (p.Glu75=) n.294G= | |
| 5 | g.1232283G>T | CA359054843 | SLC6A18 | c.225G>T (p.Glu75Asp) n.294G>T | |
| 5 | g.1232284C>A | CA359054844 | SLC6A18 | c.226C>A (p.Leu76Ile) n.295C>A | gnomAD v4 |
| 5 | g.1232284C= | CA1522548057 | SLC6A18 | c.226C= (p.Leu76=) n.295C= | |
| 5 | g.1232284C>G | CA359054845 | SLC6A18 | c.226C>G (p.Leu76Val) n.295C>G | |
| 5 | g.1232284C>T | CA359054846 | SLC6A18 | c.226C>T (p.Leu76Phe) n.295C>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1232285T>A | CA359054847 | SLC6A18 | c.227T>A (p.Leu76His) n.296T>A | |
| 5 | g.1232285T>C | CA359054848 | SLC6A18 | c.227T>C (p.Leu76Pro) n.296T>C | |
| 5 | g.1232285T>G | CA359054849 | SLC6A18 | c.227T>G (p.Leu76Arg) n.296T>G | |
| 5 | g.1232286C>A | CA443007743 | SLC6A18 | c.228C>A (p.Leu76=) n.297C>A | gnomAD v4 |
| 5 | g.1232286C= | CA1522548058 | SLC6A18 | c.228C= (p.Leu76=) n.297C= | |
| 5 | g.1232286C>G | CA443007745 | SLC6A18 | c.228C>G (p.Leu76=) n.297C>G | |
| 5 | g.1232286C>T | CA443007747 | SLC6A18 | c.228C>T (p.Leu76=) n.297C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.1232287G>A | CA112895165 | SLC6A18 | c.229G>A (p.Ala77Thr) n.298G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232287G>C | CA359054850 | SLC6A18 | c.229G>C (p.Ala77Pro) n.298G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232287G= | CA1522548060 | SLC6A18 | c.229G= (p.Ala77=) n.298G= | |
| 5 | g.1232287G>T | CA359054851 | SLC6A18 | c.229G>T (p.Ala77Ser) n.298G>T | dbSNP |
| 5 | g.1232288C>A | CA359054853 | SLC6A18 | c.230C>A (p.Ala77Asp) n.299C>A | |
| 5 | g.1232288C>G | CA359054854 | SLC6A18 | c.230C>G (p.Ala77Gly) n.299C>G | |
| 5 | g.1232288C>T | CA359054852 | SLC6A18 | c.230C>T (p.Ala77Val) n.299C>T | |
| 5 | g.1232289C>A | CA443007756 | SLC6A18 | c.231C>A (p.Ala77=) n.300C>A | gnomAD v4 |
| 5 | g.1232289C>G | CA443007757 | SLC6A18 | c.231C>G (p.Ala77=) n.300C>G | |
| 5 | g.1232289C>T | CA443007760 | SLC6A18 | c.231C>T (p.Ala77=) n.300C>T | gnomAD v4 |
| 5 | g.1232290A= | CA1522548062 | SLC6A18 | c.232A= (p.Ile78=) n.301A= | |
| 5 | g.1232290A>C | CA359054855 | SLC6A18 | c.232A>C (p.Ile78Leu) n.301A>C | |
| 5 | g.1232290A>G | CA3183457 | SLC6A18 | c.232A>G (p.Ile78Val) n.301A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1232290A>T | CA359054856 | SLC6A18 | c.232A>T (p.Ile78Phe) n.301A>T | |
| 5 | g.1232291T>A | CA359054857 | SLC6A18 | c.233T>A (p.Ile78Asn) n.302T>A | |
| 5 | g.1232291T>C | CA359054858 | SLC6A18 | c.233T>C (p.Ile78Thr) n.302T>C | |
| 5 | g.1232291T>G | CA112895166 | SLC6A18 | c.233T>G (p.Ile78Ser) n.302T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232291T= | CA1522548063 | SLC6A18 | c.233T= (p.Ile78=) n.302T= | |
| 5 | g.1232292C>A | CA443007776 | SLC6A18 | c.234C>A (p.Ile78=) n.303C>A | |
| 5 | g.1232292C= | CA1522548064 | SLC6A18 | c.234C= (p.Ile78=) n.303C= | |
| 5 | g.1232292C>G | CA359054859 | SLC6A18 | c.234C>G (p.Ile78Met) n.303C>G | gnomAD v4 |
| 5 | g.1232292C>T | CA3183458 | SLC6A18 | c.234C>T (p.Ile78=) n.303C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232296_1232302del | CA2571778011 | SLC6A18 | c.238_244del (p.Gln80CysfsTer19) n.307_313del | |
| 5 | g.1232293G>A | CA3183459 | SLC6A18 | c.235G>A (p.Gly79Ser) n.304G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232293G>C | CA359054860 | SLC6A18 | c.235G>C (p.Gly79Arg) n.304G>C | |
| 5 | g.1232293G= | CA1522548066 | SLC6A18 | c.235G= (p.Gly79=) n.304G= | |
| 5 | g.1232293G>T | CA359054861 | SLC6A18 | c.235G>T (p.Gly79Cys) n.304G>T | |
| 5 | g.1232294G>A | CA359054863 | SLC6A18 | c.236G>A (p.Gly79Asp) n.305G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1232294G>C | CA359054864 | SLC6A18 | c.236G>C (p.Gly79Ala) n.305G>C | |
| 5 | g.1232294G= | CA1522548068 | SLC6A18 | c.236G= (p.Gly79=) n.305G= | |
| 5 | g.1232294G>T | CA359054862 | SLC6A18 | c.236G>T (p.Gly79Val) n.305G>T | |
| 5 | g.1232295C>A | CA443007790 | SLC6A18 | c.237C>A (p.Gly79=) n.306C>A | |
| 5 | g.1232295C>G | CA443007791 | SLC6A18 | c.237C>G (p.Gly79=) n.306C>G | |
| 5 | g.1232295C>T | CA443007793 | SLC6A18 | c.237C>T (p.Gly79=) n.306C>T | |
| 5 | g.1232296C>A | CA359054865 | SLC6A18 | c.238C>A (p.Gln80Lys) n.307C>A | COSMIC |
| 5 | g.1232296C>G | CA359054866 | SLC6A18 | c.238C>G (p.Gln80Glu) n.307C>G | |
| 5 | g.1232296C>T | CA359054867 | SLC6A18 | c.238C>T (p.Gln80Ter) n.307C>T | gnomAD v4 |
| 5 | g.1232297A>C | CA359054868 | SLC6A18 | c.239A>C (p.Gln80Pro) n.308A>C | |
| 5 | g.1232297A>G | CA359054869 | SLC6A18 | c.239A>G (p.Gln80Arg) n.308A>G | |
| 5 | g.1232297A>T | CA359054870 | SLC6A18 | c.239A>T (p.Gln80Leu) n.308A>T | |
| 5 | g.1232298G>A | CA443007805 | SLC6A18 | c.240G>A (p.Gln80=) n.309G>A | |
| 5 | g.1232298G>C | CA359054871 | SLC6A18 | c.240G>C (p.Gln80His) n.309G>C | |
| 5 | g.1232298G>T | CA359054872 | SLC6A18 | c.240G>T (p.Gln80His) n.309G>T | |
| 5 | g.1232298_1232329delinsGCGGCTGCGGAAGGGCAGCGTCGGCGTGTGGA | CA1522548070 | SLC6A18 | c.240_271delinsGCGGCTGCGGAAGGGCAGCGTCGGCGTGTGGA (p.Gln80=) n.309_340delinsGCGGCTGCGGAAGGGCAGCGTCGGCGTGTGGA | |
| 5 | g.1232299C>A | CA443007810 | SLC6A18 | c.241C>A (p.Arg81=) n.310C>A | |
| 5 | g.1232299C= | CA1522548071 | SLC6A18 | c.241C= (p.Arg81=) n.310C= | |
| 5 | g.1232299C>G | CA359054873 | SLC6A18 | c.241C>G (p.Arg81Gly) n.310C>G | |
| 5 | g.1232299C>T | CA3183461 | SLC6A18 | c.241C>T (p.Arg81Trp) n.310C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.1232303_1232333del | CA3183460 | SLC6A18 | c.245_275del (p.Leu82ProfsTer9) n.314_344del | dbSNP ExAC gnomAD v2 |
| 5 | g.1232300G>A | CA3183462 | SLC6A18 | c.242G>A (p.Arg81Gln) n.311G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232300G>C | CA359054874 | SLC6A18 | c.242G>C (p.Arg81Pro) n.311G>C | |
| 5 | g.1232300G= | CA1522548073 | SLC6A18 | c.242G= (p.Arg81=) n.311G= | |
| 5 | g.1232300G>T | CA359054875 | SLC6A18 | c.242G>T (p.Arg81Leu) n.311G>T | COSMIC |
| 5 | g.1232301G>A | CA443007820 | SLC6A18 | c.243G>A (p.Arg81=) n.312G>A | gnomAD v4 |
| 5 | g.1232301G>C | CA443007822 | SLC6A18 | c.243G>C (p.Arg81=) n.312G>C | |
| 5 | g.1232301G>T | CA443007825 | SLC6A18 | c.243G>T (p.Arg81=) n.312G>T | |
| 5 | g.1232302C>A | CA359054877 | SLC6A18 | c.244C>A (p.Leu82Met) n.313C>A | |
| 5 | g.1232302C= | CA1522548075 | SLC6A18 | c.244C= (p.Leu82=) n.313C= | |
| 5 | g.1232302C>G | CA359054876 | SLC6A18 | c.244C>G (p.Leu82Val) n.313C>G | |
| 5 | g.1232302C>T | CA443007829 | SLC6A18 | c.244C>T (p.Leu82=) n.313C>T | dbSNP gnomAD v4 |
| 5 | g.1232303T>A | CA359054878 | SLC6A18 | c.245T>A (p.Leu82Gln) n.314T>A | |
| 5 | g.1232303T>C | CA359054880 | SLC6A18 | c.245T>C (p.Leu82Pro) n.314T>C | |
| 5 | g.1232303T>G | CA359054879 | SLC6A18 | c.245T>G (p.Leu82Arg) n.314T>G | |
| 5 | g.1232304G>A | CA443008375 | SLC6A18 | c.246G>A (p.Leu82=) n.315G>A | |
| 5 | g.1232304G>C | CA443008364 | SLC6A18 | c.246G>C (p.Leu82=) n.315G>C | |
| 5 | g.1232304G>T | CA443008367 | SLC6A18 | c.246G>T (p.Leu82=) n.315G>T | |
| 5 | g.1232305C>A | CA443008379 | SLC6A18 | c.247C>A (p.Arg83=) n.316C>A | gnomAD v4 |
| 5 | g.1232305C= | CA1522548077 | SLC6A18 | c.247C= (p.Arg83=) n.316C= | |
| 5 | g.1232305C>G | CA359054883 | SLC6A18 | c.247C>G (p.Arg83Gly) n.316C>G | |
| 5 | g.1232305C>T | CA3183463 | SLC6A18 | c.247C>T (p.Arg83Trp) n.316C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.1232306G>A | CA3183464 | SLC6A18 | c.248G>A (p.Arg83Gln) n.317G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.1232306G>C | CA359054884 | SLC6A18 | c.248G>C (p.Arg83Pro) n.317G>C | |
| 5 | g.1232306G= | CA1522548079 | SLC6A18 | c.248G= (p.Arg83=) n.317G= | |
| 5 | g.1232306G>T | CA359054885 | SLC6A18 | c.248G>T (p.Arg83Leu) n.317G>T | gnomAD v4 |
| 5 | g.1232307G>A | CA3183465 | SLC6A18 | c.249G>A (p.Arg83=) n.318G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1232307G>C | CA443008398 | SLC6A18 | c.249G>C (p.Arg83=) n.318G>C | |
| 5 | g.1232307G= | CA1522548080 | SLC6A18 | c.249G= (p.Arg83=) n.318G= | |
| 5 | g.1232307G>T | CA443008401 | SLC6A18 | c.249G>T (p.Arg83=) n.318G>T | |
| 5 | g.1232308A>C | CA359054888 | SLC6A18 | c.250A>C (p.Lys84Gln) n.319A>C | |
| 5 | g.1232308A>G | CA359054886 | SLC6A18 | c.250A>G (p.Lys84Glu) n.319A>G | gnomAD v4 |
| 5 | g.1232308A>T | CA359054887 | SLC6A18 | c.250A>T (p.Lys84Ter) n.319A>T | |
| 5 | g.1232309A= | CA1522548082 | SLC6A18 | c.251A= (p.Lys84=) n.320A= | |
| 5 | g.1232309A>C | CA359054889 | SLC6A18 | c.251A>C (p.Lys84Thr) n.320A>C | |
| 5 | g.1232309A>G | CA359054890 | SLC6A18 | c.251A>G (p.Lys84Arg) n.320A>G | |
| 5 | g.1232309A>T | CA3183466 | SLC6A18 | c.251A>T (p.Lys84Met) n.320A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232310G>A | CA443008410 | SLC6A18 | c.252G>A (p.Lys84=) n.321G>A | dbSNP gnomAD v4 |
| 5 | g.1232310G>C | CA359054891 | SLC6A18 | c.252G>C (p.Lys84Asn) n.321G>C | |
| 5 | g.1232310G= | CA1522548084 | SLC6A18 | c.252G= (p.Lys84=) n.321G= | |
| 5 | g.1232310G>T | CA359054892 | SLC6A18 | c.252G>T (p.Lys84Asn) n.321G>T | |
| 5 | g.1232311G>A | CA359054895 | SLC6A18 | c.253G>A (p.Gly85Ser) n.322G>A | gnomAD v4 |
| 5 | g.1232311G>C | CA359054893 | SLC6A18 | c.253G>C (p.Gly85Arg) n.322G>C | |
| 5 | g.1232311G= | CA1522548085 | SLC6A18 | c.253G= (p.Gly85=) n.322G= | |
| 5 | g.1232311G>T | CA359054894 | SLC6A18 | c.253G>T (p.Gly85Cys) n.322G>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1232312G>A | CA359054896 | SLC6A18 | c.254G>A (p.Gly85Asp) n.323G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1232312G>C | CA359054897 | SLC6A18 | c.254G>C (p.Gly85Ala) n.323G>C | |
| 5 | g.1232312G= | CA1522548087 | SLC6A18 | c.254G= (p.Gly85=) n.323G= | |
| 5 | g.1232312G>T | CA359054898 | SLC6A18 | c.254G>T (p.Gly85Val) n.323G>T | |
| 5 | g.1232313C>A | CA443008423 | SLC6A18 | c.255C>A (p.Gly85=) n.324C>A | |
| 5 | g.1232313C>G | CA443008424 | SLC6A18 | c.255C>G (p.Gly85=) n.324C>G | |
| 5 | g.1232313C>T | CA443008426 | SLC6A18 | c.255C>T (p.Gly85=) n.324C>T | gnomAD v4 |
| 5 | g.1232314A>C | CA359054899 | SLC6A18 | c.256A>C (p.Ser86Arg) n.325A>C | |
| 5 | g.1232314A>G | CA359054900 | SLC6A18 | c.256A>G (p.Ser86Gly) n.325A>G | |
| 5 | g.1232314A>T | CA359054901 | SLC6A18 | c.256A>T (p.Ser86Cys) n.325A>T | |
| 5 | g.1232315G>A | CA359054902 | SLC6A18 | c.257G>A (p.Ser86Asn) n.326G>A | |
| 5 | g.1232315G>C | CA359054903 | SLC6A18 | c.257G>C (p.Ser86Thr) n.326G>C | |
| 5 | g.1232315G>T | CA359054904 | SLC6A18 | c.257G>T (p.Ser86Ile) n.326G>T | |
| 5 | g.1232316C>A | CA359054905 | SLC6A18 | c.258C>A (p.Ser86Arg) n.327C>A | |
| 5 | g.1232316C= | CA1522548088 | SLC6A18 | c.258C= (p.Ser86=) n.327C= | |
| 5 | g.1232316C>G | CA359054906 | SLC6A18 | c.258C>G (p.Ser86Arg) n.327C>G | |
| 5 | g.1232316C>T | CA3183467 | SLC6A18 | c.258C>T (p.Ser86=) n.327C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232317G>A | CA3183468 | SLC6A18 | c.259G>A (p.Val87Ile) n.328G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232317G>C | CA359054908 | SLC6A18 | c.259G>C (p.Val87Leu) n.328G>C | |
| 5 | g.1232317G= | CA1522548089 | SLC6A18 | c.259G= (p.Val87=) n.328G= | |
| 5 | g.1232317G>T | CA359054907 | SLC6A18 | c.259G>T (p.Val87Phe) n.328G>T | gnomAD v4 |
| 5 | g.1232318T>A | CA359054909 | SLC6A18 | c.260T>A (p.Val87Asp) n.329T>A | |
| 5 | g.1232318T>C | CA359054910 | SLC6A18 | c.260T>C (p.Val87Ala) n.329T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232318T>G | CA359054911 | SLC6A18 | c.260T>G (p.Val87Gly) n.329T>G | |
| 5 | g.1232318T= | CA1522548090 | SLC6A18 | c.260T= (p.Val87=) n.329T= | |
| 5 | g.1232319C>A | CA443008472 | SLC6A18 | c.261C>A (p.Val87=) n.330C>A | |
| 5 | g.1232319C= | CA1522548091 | SLC6A18 | c.261C= (p.Val87=) n.330C= | |
| 5 | g.1232319C>G | CA443008475 | SLC6A18 | c.261C>G (p.Val87=) n.330C>G | |
| 5 | g.1232319C>T | CA3183469 | SLC6A18 | c.261C>T (p.Val87=) n.330C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232320G>A | CA112895257 | SLC6A18 | c.262G>A (p.Gly88Ser) n.331G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232320G>C | CA359054912 | SLC6A18 | c.262G>C (p.Gly88Arg) n.331G>C | |
| 5 | g.1232320G= | CA1522548093 | SLC6A18 | c.262G= (p.Gly88=) n.331G= | |
| 5 | g.1232320G>T | CA359054913 | SLC6A18 | c.262G>T (p.Gly88Cys) n.331G>T | |
| 5 | g.1232321G>A | CA359054914 | SLC6A18 | c.263G>A (p.Gly88Asp) n.332G>A | |
| 5 | g.1232321G>C | CA359054915 | SLC6A18 | c.263G>C (p.Gly88Ala) n.332G>C | |
| 5 | g.1232321G>T | CA359054916 | SLC6A18 | c.263G>T (p.Gly88Val) n.332G>T | |
| 5 | g.1232322C>A | CA443008489 | SLC6A18 | c.264C>A (p.Gly88=) n.333C>A | |
| 5 | g.1232322C= | CA1522548095 | SLC6A18 | c.264C= (p.Gly88=) n.333C= | |
| 5 | g.1232322C>G | CA443008492 | SLC6A18 | c.264C>G (p.Gly88=) n.333C>G | |
| 5 | g.1232322C>T | CA3183470 | SLC6A18 | c.264C>T (p.Gly88=) n.333C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232323G>A | CA3183471 | SLC6A18 | c.265G>A (p.Val89Met) n.334G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.1232323G>C | CA3183472 | SLC6A18 | c.265G>C (p.Val89Leu) n.334G>C | dbSNP ExAC gnomAD v4 |
| 5 | g.1232323G= | CA1522548098 | SLC6A18 | c.265G= (p.Val89=) n.334G= | |
| 5 | g.1232323G>T | CA359054917 | SLC6A18 | c.265G>T (p.Val89Leu) n.334G>T | dbSNP COSMIC |
| 5 | g.1232324T>A | CA359054918 | SLC6A18 | c.266T>A (p.Val89Glu) n.335T>A | |
| 5 | g.1232324T>C | CA359054919 | SLC6A18 | c.266T>C (p.Val89Ala) n.335T>C | |
| 5 | g.1232324T>G | CA359054920 | SLC6A18 | c.266T>G (p.Val89Gly) n.335T>G | |
| 5 | g.1232325G>A | CA443008507 | SLC6A18 | c.267G>A (p.Val89=) n.336G>A | |
| 5 | g.1232325G>C | CA443008509 | SLC6A18 | c.267G>C (p.Val89=) n.336G>C | |
| 5 | g.1232325G>T | CA443008512 | SLC6A18 | c.267G>T (p.Val89=) n.336G>T | |
| 5 | g.1232326T>A | CA359054921 | SLC6A18 | c.268T>A (p.Trp90Arg) n.337T>A | |
| 5 | g.1232326T>C | CA359054922 | SLC6A18 | c.268T>C (p.Trp90Arg) n.337T>C | |
| 5 | g.1232326T>G | CA359054923 | SLC6A18 | c.268T>G (p.Trp90Gly) n.337T>G | |
| 5 | g.1232327G>A | CA3183473 | SLC6A18 | c.269G>A (p.Trp90Ter) n.338G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232327G>C | CA359054924 | SLC6A18 | c.269G>C (p.Trp90Ser) n.338G>C | |
| 5 | g.1232327G= | CA1522548099 | SLC6A18 | c.269G= (p.Trp90=) n.338G= | |
| 5 | g.1232327G>T | CA359054925 | SLC6A18 | c.269G>T (p.Trp90Leu) n.338G>T | |
| 5 | g.1232328G>A | CA3183474 | SLC6A18 | c.270G>A (p.Trp90Ter) n.339G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232328G>C | CA359054926 | SLC6A18 | c.270G>C (p.Trp90Cys) n.339G>C | gnomAD v4 |
| 5 | g.1232328G= | CA1522548102 | SLC6A18 | c.270G= (p.Trp90=) n.339G= | |
| 5 | g.1232328G>T | CA359054927 | SLC6A18 | c.270G>T (p.Trp90Cys) n.339G>T | |
| 5 | g.1232329A>C | CA359054930 | SLC6A18 | c.271A>C (p.Thr91Pro) n.340A>C | |
| 5 | g.1232329A>G | CA359054929 | SLC6A18 | c.271A>G (p.Thr91Ala) n.340A>G | |
| 5 | g.1232329A>T | CA359054928 | SLC6A18 | c.271A>T (p.Thr91Ser) n.340A>T | ClinVar |
| 5 | g.1232330C>A | CA359054931 | SLC6A18 | c.272C>A (p.Thr91Lys) n.341C>A | |
| 5 | g.1232330C= | CA1522548104 | SLC6A18 | c.272C= (p.Thr91=) n.341C= | |
| 5 | g.1232330C>G | CA359054932 | SLC6A18 | c.272C>G (p.Thr91Arg) n.341C>G | |
| 5 | g.1232330C>T | CA3183475 | SLC6A18 | c.272C>T (p.Thr91Met) n.341C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.1232331G>A | CA3183476 | SLC6A18 | c.273G>A (p.Thr91=) n.342G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232331G>C | CA112895297 | SLC6A18 | c.273G>C (p.Thr91=) n.342G>C | dbSNP |
| 5 | g.1232331G= | CA1522548107 | SLC6A18 | c.273G= (p.Thr91=) n.342G= | |
| 5 | g.1232331G>T | CA443008543 | SLC6A18 | c.273G>T (p.Thr91=) n.342G>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1232332G>A | CA359054933 | SLC6A18 | c.274G>A (p.Ala92Thr) n.343G>A | gnomAD v4 |
| 5 | g.1232332G>C | CA359054934 | SLC6A18 | c.274G>C (p.Ala92Pro) n.343G>C | |
| 5 | g.1232332G>T | CA359054935 | SLC6A18 | c.274G>T (p.Ala92Ser) n.343G>T | |
| 5 | g.1232333C>A | CA359054936 | SLC6A18 | c.275C>A (p.Ala92Asp) n.344C>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1232333C= | CA1522548109 | SLC6A18 | c.275C= (p.Ala92=) n.344C= | |
| 5 | g.1232333C>G | CA359054937 | SLC6A18 | c.275C>G (p.Ala92Gly) n.344C>G | |
| 5 | g.1232333C>T | CA359054938 | SLC6A18 | c.275C>T (p.Ala92Val) n.344C>T | gnomAD v4 |
| 5 | g.1232334C>A | CA443008567 | SLC6A18 | c.276C>A (p.Ala92=) n.345C>A | |
| 5 | g.1232334C= | CA1522548111 | SLC6A18 | c.276C= (p.Ala92=) n.345C= | |
| 5 | g.1232334C>G | CA443008566 | SLC6A18 | c.276C>G (p.Ala92=) n.345C>G | |
| 5 | g.1232334C>T | CA3183477 | SLC6A18 | c.276C>T (p.Ala92=) n.345C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1232335A= | CA1522548113 | SLC6A18 | c.277A= (p.Ile93=) n.346A= | |
| 5 | g.1232335A>C | CA359054939 | SLC6A18 | c.277A>C (p.Ile93Leu) n.346A>C | |
| 5 | g.1232335A>G | CA359054940 | SLC6A18 | c.277A>G (p.Ile93Val) n.346A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1232335A>T | CA359054941 | SLC6A18 | c.277A>T (p.Ile93Phe) n.346A>T | gnomAD v4 |
| 5 | g.1232336T>A | CA359054944 | SLC6A18 | c.278T>A (p.Ile93Asn) n.347T>A | |
| 5 | g.1232336T>C | CA359054942 | SLC6A18 | c.278T>C (p.Ile93Thr) n.347T>C | |
| 5 | g.1232336T>G | CA359054943 | SLC6A18 | c.278T>G (p.Ile93Ser) n.347T>G | |
| 5 | g.1232337C>A | CA443008579 | SLC6A18 | c.279C>A (p.Ile93=) n.348C>A | |
| 5 | g.1232337C>G | CA359054945 | SLC6A18 | c.279C>G (p.Ile93Met) n.348C>G | |
| 5 | g.1232337C>T | CA443008582 | SLC6A18 | c.279C>T (p.Ile93=) n.348C>T | gnomAD v4 |
| 5 | g.1232338T>A | CA359054946 | SLC6A18 | c.280T>A (p.Ser94Thr) n.349T>A | |
| 5 | g.1232338T>C | CA359054947 | SLC6A18 | c.280T>C (p.Ser94Pro) n.349T>C | |
| 5 | g.1232338T>G | CA359054948 | SLC6A18 | c.280T>G (p.Ser94Ala) n.349T>G | |
| 5 | g.1232339C>A | CA359054949 | SLC6A18 | c.281C>A (p.Ser94Tyr) n.350C>A | |
| 5 | g.1232339C= | CA1522548115 | SLC6A18 | c.281C= (p.Ser94=) n.350C= | |
| 5 | g.1232339C>G | CA359054950 | SLC6A18 | c.281C>G (p.Ser94Cys) n.350C>G | |
| 5 | g.1232339C>T | CA359054951 | SLC6A18 | c.281C>T (p.Ser94Phe) n.350C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.1232342del | CA2673074963 | SLC6A18 | c.284del (p.Pro95ArgfsTer6) n.353del | gnomAD v4 |
| 5 | g.1232340C>A | CA443008603 | SLC6A18 | c.282C>A (p.Ser94=) n.351C>A | |
| 5 | g.1232340C= | CA1522548118 | SLC6A18 | c.282C= (p.Ser94=) n.351C= | |
| 5 | g.1232340C>G | CA443008606 | SLC6A18 | c.282C>G (p.Ser94=) n.351C>G | |
| 5 | g.1232340C>T | CA3183478 | SLC6A18 | c.282C>T (p.Ser94=) n.351C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232341C>A | CA359054952 | SLC6A18 | c.283C>A (p.Pro95Thr) n.352C>A | |
| 5 | g.1232341C= | CA1522548122 | SLC6A18 | c.283C= (p.Pro95=) n.352C= | |
| 5 | g.1232341C>G | CA3183479 | SLC6A18 | c.283C>G (p.Pro95Ala) n.352C>G | dbSNP ExAC gnomAD v4 |
| 5 | g.1232341C>T | CA359054953 | SLC6A18 | c.283C>T (p.Pro95Ser) n.352C>T | |
| 5 | g.1232342C>A | CA359054954 | SLC6A18 | c.284C>A (p.Pro95Gln) n.353C>A | |
| 5 | g.1232342C= | CA1522548126 | SLC6A18 | c.284C= (p.Pro95=) n.353C= | |
| 5 | g.1232342C>G | CA3183481 | SLC6A18 | c.284C>G (p.Pro95Arg) n.353C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232342C>T | CA3183480 | SLC6A18 | c.284C>T (p.Pro95Leu) n.353C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232343G>A | CA3183482 | SLC6A18 | c.285G>A (p.Pro95=) n.354G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232343G>C | CA443008632 | SLC6A18 | c.285G>C (p.Pro95=) n.354G>C | |
| 5 | g.1232343G= | CA1522548129 | SLC6A18 | c.285G= (p.Pro95=) n.354G= | |
| 5 | g.1232343G>T | CA3183483 | SLC6A18 | c.285G>T (p.Pro95=) n.354G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232344T>A | CA359054955 | SLC6A18 | c.286T>A (p.Tyr96Asn) n.355T>A | |
| 5 | g.1232344T>C | CA359054956 | SLC6A18 | c.286T>C (p.Tyr96His) n.355T>C | |
| 5 | g.1232344T>G | CA359054957 | SLC6A18 | c.286T>G (p.Tyr96Asp) n.355T>G | |
| 5 | g.1232345A= | CA1522548136 | SLC6A18 | c.287A= (p.Tyr96=) n.356A= | |
| 5 | g.1232345A>C | CA359054960 | SLC6A18 | c.287A>C (p.Tyr96Ser) n.356A>C | |
| 5 | g.1232345A>G | CA359054959 | SLC6A18 | c.287A>G (p.Tyr96Cys) n.356A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232345A>T | CA359054958 | SLC6A18 | c.287A>T (p.Tyr96Phe) n.356A>T | |
| 5 | g.1232345_1232346delinsAC | CA1522548134 | SLC6A18 | c.287_288delinsAC (p.Tyr96=) n.356_357delinsAC | |
| 5 | g.1232346C>A | CA359054961 | SLC6A18 | c.288C>A (p.Tyr96Ter) n.357C>A | |
| 5 | g.1232346C>G | CA359054962 | SLC6A18 | c.288C>G (p.Tyr96Ter) n.357C>G | |
| 5 | g.1232346C>T | CA443008659 | SLC6A18 | c.288C>T (p.Tyr96=) n.357C>T | gnomAD v4 |
| 5 | g.1232347del | CA3183484 | SLC6A18 | c.289del (p.Leu97SerfsTer4) n.358del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1232347C>A | CA359054963 | SLC6A18 | c.289C>A (p.Leu97Ile) n.358C>A | |
| 5 | g.1232347C= | CA1522548142 | SLC6A18 | c.289C= (p.Leu97=) n.358C= | |
| 5 | g.1232347C>G | CA359054964 | SLC6A18 | c.289C>G (p.Leu97Val) n.358C>G | |
| 5 | g.1232347C>T | CA112895401 | SLC6A18 | c.289C>T (p.Leu97Phe) n.358C>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1232348del | CA2673074994 | SLC6A18 | c.290del (p.Leu97ProfsTer4) n.359del | gnomAD v4 |
| 5 | g.1232348T>A | CA359054965 | SLC6A18 | c.290T>A (p.Leu97His) n.359T>A | |
| 5 | g.1232348T>C | CA359054967 | SLC6A18 | c.290T>C (p.Leu97Pro) n.359T>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1232348T>G | CA359054966 | SLC6A18 | c.290T>G (p.Leu97Arg) n.359T>G | |
| 5 | g.1232348T= | CA1522548146 | SLC6A18 | c.290T= (p.Leu97=) n.359T= | |
| 5 | g.1232349del | CA2673075000 | SLC6A18 | c.291del (p.Ser98ValfsTer3) n.360del | gnomAD v4 |
| 5 | g.1232349C>A | CA443008678 | SLC6A18 | c.291C>A (p.Leu97=) n.360C>A | gnomAD v4 |
| 5 | g.1232349C= | CA1522548148 | SLC6A18 | c.291C= (p.Leu97=) n.360C= | |
| 5 | g.1232349C>G | CA3183485 | SLC6A18 | c.291C>G (p.Leu97=) n.360C>G | dbSNP ExAC gnomAD v2 |
| 5 | g.1232349C>T | CA443008682 | SLC6A18 | c.291C>T (p.Leu97=) n.360C>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1232350A>C | CA359054968 | SLC6A18 | c.292A>C (p.Ser98Arg) n.361A>C | |
| 5 | g.1232350A>G | CA359054969 | SLC6A18 | c.292A>G (p.Ser98Gly) n.361A>G | |
| 5 | g.1232350A>T | CA359054970 | SLC6A18 | c.292A>T (p.Ser98Cys) n.361A>T | |
| 5 | g.1232351G>A | CA3183486 | SLC6A18 | c.293G>A (p.Ser98Asn) n.362G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1232351G>C | CA359054971 | SLC6A18 | c.293G>C (p.Ser98Thr) n.362G>C | |
| 5 | g.1232351G= | CA1522548150 | SLC6A18 | c.293G= (p.Ser98=) n.362G= | |
| 5 | g.1232351G>T | CA359054972 | SLC6A18 | c.293G>T (p.Ser98Ile) n.362G>T | |
| 5 | g.1232352T>A | CA359054973 | SLC6A18 | c.294T>A (p.Ser98Arg) n.363T>A | |
| 5 | g.1232352T>C | CA443008704 | SLC6A18 | c.294T>C (p.Ser98=) n.363T>C | gnomAD v4 |
| 5 | g.1232352T>G | CA359054974 | SLC6A18 | c.294T>G (p.Ser98Arg) n.363T>G | |
| 5 | g.1232353G>A | CA3183487 | SLC6A18 | c.295G>A (p.Gly99Arg) n.364G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232353G>C | CA359054975 | SLC6A18 | c.295G>C (p.Gly99Arg) n.364G>C | |
| 5 | g.1232353G= | CA1522548153 | SLC6A18 | c.295G= (p.Gly99=) n.364G= | |
| 5 | g.1232353G>T | CA359054976 | SLC6A18 | c.295G>T (p.Gly99Ter) n.364G>T | |
| 5 | g.1232354G>A | CA3183489 | SLC6A18 | c.296G>A (p.Gly99Glu) n.365G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1232354G>C | CA359054977 | SLC6A18 | c.296G>C (p.Gly99Ala) n.365G>C | |
| 5 | g.1232354G= | CA1522548156 | SLC6A18 | c.296G= (p.Gly99=) n.365G= | |
| 5 | g.1232354G>T | CA3183488 | SLC6A18 | c.296G>T (p.Gly99Val) n.365G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1232355A= | CA1522548159 | SLC6A18 | c.297A= (p.Gly99=) n.366A= | |
| 5 | g.1232355A>C | CA443008723 | SLC6A18 | c.297A>C (p.Gly99=) n.366A>C | |
| 5 | g.1232355A>G | CA443008727 | SLC6A18 | c.297A>G (p.Gly99=) n.366A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1232355A>T | CA443008730 | SLC6A18 | c.297A>T (p.Gly99=) n.366A>T | |
| 5 | g.1232356G>A | CA3183490 | SLC6A18 | c.298G>A (p.Val100Ile) n.367G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1232356G>C | CA359054979 | SLC6A18 | c.298G>C (p.Val100Leu) n.367G>C | |
| 5 | g.1232356G= | CA1522548162 | SLC6A18 | c.298G= (p.Val100=) n.367G= | |
| 5 | g.1232356G>T | CA359054978 | SLC6A18 | c.298G>T (p.Val100Leu) n.367G>T | gnomAD v4 |
| 5 | g.1232357T>A | CA359054980 | SLC6A18 | c.299T>A (p.Val100Glu) n.368T>A | |
| 5 | g.1232357T>C | CA3183491 | SLC6A18 | c.299T>C (p.Val100Ala) n.368T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232357T>G | CA359054981 | SLC6A18 | c.299T>G (p.Val100Gly) n.368T>G | gnomAD v3 gnomAD v4 |
| 5 | g.1232357T= | CA1522548164 | SLC6A18 | c.299T= (p.Val100=) n.368T= | |
| 5 | g.1232358A= | CA1522548167 | SLC6A18 | c.300A= (p.Val100=) n.369A= | |
| 5 | g.1232358A>C | CA443008749 | SLC6A18 | c.300A>C (p.Val100=) n.369A>C | |
| 5 | g.1232358A>G | CA443008752 | SLC6A18 | c.300A>G (p.Val100=) n.369A>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1232358A>T | CA443008756 | SLC6A18 | c.300A>T (p.Val100=) n.369A>T | gnomAD v4 |
| 5 | g.1232359G>A | CA359054982 | SLC6A18 | c.301G>A (p.Gly101Arg) n.370G>A | gnomAD v4 |
| 5 | g.1232359G>C | CA359054983 | SLC6A18 | c.301G>C (p.Gly101Arg) n.370G>C | dbSNP |
| 5 | g.1232359G= | CA1522548170 | SLC6A18 | c.301G= (p.Gly101=) n.370G= | |
| 5 | g.1232359G>T | CA3183492 | SLC6A18 | c.301G>T (p.Gly101Trp) n.370G>T | dbSNP ExAC gnomAD v4 |
| 5 | g.1232360G>A | CA359054984 | SLC6A18 | c.301+1G>A (n.301+1G>A) n.370+1G>A | dbSNP gnomAD v2 |
| 5 | g.1232360G>C | CA359054986 | SLC6A18 | c.301+1G>C (n.301+1G>C) n.370+1G>C | |
| 5 | g.1232360G= | CA1522548174 | SLC6A18 | c.301+1G= (n.301+1G=) n.370+1G= | |
| 5 | g.1232360G>T | CA359054985 | SLC6A18 | c.301+1G>T (n.301+1G>T) n.370+1G>T | |
| 5 | g.1232360_1232361delinsGT | CA1522548175 | SLC6A18 | c.301+1_301+2delinsGT (n.301+1_301+2delinsGT) n.370+1_370+2delinsGT | |
| 5 | g.1232361del | CA803102772 | SLC6A18 | c.301+2del (n.301+2del) n.370+2del | dbSNP gnomAD v4 |
| 5 | g.1232361T>A | CA359054987 | SLC6A18 | c.301+2T>A (n.301+2T>A) n.370+2T>A | |
| 5 | g.1232361T>C | CA3183493 | SLC6A18 | c.301+2T>C (n.301+2T>C) n.370+2T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1232361T>G | CA359054988 | SLC6A18 | c.301+2T>G (n.301+2T>G) n.370+2T>G | dbSNP |
| 5 | g.1232361T= | CA1522548180 | SLC6A18 | c.301+2T= (n.301+2T=) n.370+2T= | |
| 5 | g.1232362A= | CA1522548183 | SLC6A18 | c.301+3A= (n.301+3A=) n.370+3A= | |
| 5 | g.1232362A>G | CA645540769 | SLC6A18 | c.301+3A>G (n.301+3A>G) n.370+3A>G | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.1232363G>A | CA2673075062 | SLC6A18 | c.301+4G>A (n.301+4G>A) n.370+4G>A | gnomAD v4 |
| 5 | g.1232364G>A | CA3183494 | SLC6A18 | c.301+5G>A (n.301+5G>A) n.370+5G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232364G= | CA1522548185 | SLC6A18 | c.301+5G= (n.301+5G=) n.370+5G= | |
| 5 | g.1232364G>T | CA2673075064 | SLC6A18 | c.301+5G>T (n.301+5G>T) n.370+5G>T | gnomAD v4 |
| 5 | g.1232366C= | CA1522548187 | SLC6A18 | c.301+7C= (n.301+7C=) n.370+7C= | |
| 5 | g.1232366C>G | CA3183495 | SLC6A18 | c.301+7C>G (n.301+7C>G) n.370+7C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1232367A>C | CA2673075066 | SLC6A18 | c.301+8A>C (n.301+8A>C) n.370+8A>C | gnomAD v4 |
| 5 | g.1232369C>A | CA2673075068 | SLC6A18 | c.301+10C>A (n.301+10C>A) n.370+10C>A | gnomAD v4 |
| 5 | g.1232369C= | CA1522548190 | SLC6A18 | c.301+10C= (n.301+10C=) n.370+10C= | |
| 5 | g.1232369C>T | CA3183496 | SLC6A18 | c.301+10C>T (n.301+10C>T) n.370+10C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232370G>A | CA3183497 | SLC6A18 | c.301+11G>A (n.301+11G>A) n.370+11G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232370G= | CA1522548192 | SLC6A18 | c.301+11G= (n.301+11G=) n.370+11G= | |
| 5 | g.1232370G>T | CA2673075072 | SLC6A18 | c.301+11G>T (n.301+11G>T) n.370+11G>T | gnomAD v4 |
| 5 | g.1232372C>A | CA2673075076 | SLC6A18 | c.301+13C>A (n.301+13C>A) n.370+13C>A | gnomAD v4 |
| 5 | g.1232372C= | CA1522548196 | SLC6A18 | c.301+13C= (n.301+13C=) n.370+13C= | |
| 5 | g.1232372C>G | CA3183498 | SLC6A18 | c.301+13C>G (n.301+13C>G) n.370+13C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1232372C>T | CA557555548 | SLC6A18 | c.301+13C>T (n.301+13C>T) n.370+13C>T | dbSNP gnomAD v2 |
| 5 | g.1232373C>A | CA2673075079 | SLC6A18 | c.301+14C>A (n.301+14C>A) n.370+14C>A | gnomAD v4 |
| 5 | g.1232373C= | CA1522548200 | SLC6A18 | c.301+14C= (n.301+14C=) n.370+14C= | |
| 5 | g.1232373C>G | CA557555549 | SLC6A18 | c.301+14C>G (n.301+14C>G) n.370+14C>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1232374T>C | CA2673075086 | SLC6A18 | c.301+15T>C (n.301+15T>C) n.370+15T>C | gnomAD v4 |
| 5 | g.1232375C>A | CA2673075088 | SLC6A18 | c.301+16C>A (n.301+16C>A) n.370+16C>A | gnomAD v4 |
| 5 | g.1232376G>A | CA557555551 | SLC6A18 | c.301+17G>A (n.301+17G>A) n.370+17G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1232376G>C | CA3183499 | SLC6A18 | c.301+17G>C (n.301+17G>C) n.370+17G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1232376G= | CA1522548203 | SLC6A18 | c.301+17G= (n.301+17G=) n.370+17G= | |
| 5 | g.1232376G>T | CA3183500 | SLC6A18 | c.301+17G>T (n.301+17G>T) n.370+17G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |