UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.1212254_1212267del | CA2673071876 | SLC6A19 | c.482-49_482-36del (n.482-49_482-36del) c.390-49_390-36del (n.390-49_390-36del) | gnomAD v4 |
| 5 | g.1212264del | CA2578258814 | SLC6A19 | c.482-39del (n.482-39del) c.390-39del (n.390-39del) | gnomAD v4 |
| 5 | g.1212261G>A | CA2673071880 | SLC6A19 | c.482-42G>A (n.482-42G>A) c.390-42G>A (n.390-42G>A) | gnomAD v4 |
| 5 | g.1212261G>C | CA2673071881 | SLC6A19 | c.482-42G>C (n.482-42G>C) c.390-42G>C (n.390-42G>C) | gnomAD v4 |
| 5 | g.1212261G>T | CA2673071882 | SLC6A19 | c.482-42G>T (n.482-42G>T) c.390-42G>T (n.390-42G>T) | gnomAD v4 |
| 5 | g.1212262G>A | CA112940504 | SLC6A19 | c.482-41G>A (n.482-41G>A) c.390-41G>A (n.390-41G>A) | dbSNP gnomAD v4 |
| 5 | g.1212262G= | CA1522518626 | SLC6A19 | c.482-41G= (n.482-41G=) c.390-41G= (n.390-41G=) | |
| 5 | g.1212263G>A | CA1072491107 | SLC6A19 | c.482-40G>A (n.482-40G>A) c.390-40G>A (n.390-40G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1212263G= | CA1522518629 | SLC6A19 | c.482-40G= (n.482-40G=) c.390-40G= (n.390-40G=) | |
| 5 | g.1212263G>T | CA2673071883 | SLC6A19 | c.482-40G>T (n.482-40G>T) c.390-40G>T (n.390-40G>T) | gnomAD v4 |
| 5 | g.1212264G>A | CA3182730 | SLC6A19 | c.482-39G>A (n.482-39G>A) c.390-39G>A (n.390-39G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1212264G>C | CA2673071884 | SLC6A19 | c.482-39G>C (n.482-39G>C) c.390-39G>C (n.390-39G>C) | gnomAD v4 |
| 5 | g.1212264G= | CA1522518630 | SLC6A19 | c.482-39G= (n.482-39G=) c.390-39G= (n.390-39G=) | |
| 5 | g.1212264G>T | CA2673071885 | SLC6A19 | c.482-39G>T (n.482-39G>T) c.390-39G>T (n.390-39G>T) | gnomAD v4 |
| 5 | g.1212268dup | CA2765038593 | SLC6A19 | c.482-35dup (n.482-35dup) c.390-35dup (n.390-35dup) | |
| 5 | g.1212267C= | CA1522518633 | SLC6A19 | c.482-36C= (n.482-36C=) c.390-36C= (n.390-36C=) | |
| 5 | g.1212267C>T | CA1522518634 | SLC6A19 | c.482-36C>T (n.482-36C>T) c.390-36C>T (n.390-36C>T) | dbSNP |
| 5 | g.1212268C>A | CA3182731 | SLC6A19 | c.482-35C>A (n.482-35C>A) c.390-35C>A (n.390-35C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1212268C= | CA1522518636 | SLC6A19 | c.482-35C= (n.482-35C=) c.390-35C= (n.390-35C=) | |
| 5 | g.1212268C>G | CA2578258816 | SLC6A19 | c.482-35C>G (n.482-35C>G) c.390-35C>G (n.390-35C>G) | gnomAD v4 |
| 5 | g.1212268C>T | CA557556450 | SLC6A19 | c.482-35C>T (n.482-35C>T) c.390-35C>T (n.390-35C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1212268_1212271delinsCGTA | CA1522518638 | SLC6A19 | c.482-35_482-32delinsCGTA (n.482-35_482-32delinsCGTA) c.390-35_390-32delinsCGTA (n.390-35_390-32delinsCGTA) | |
| 5 | g.1212269G>A | CA3182732 | SLC6A19 | c.482-34G>A (n.482-34G>A) c.390-34G>A (n.390-34G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1212269G>C | CA802929601 | SLC6A19 | c.482-34G>C (n.482-34G>C) c.390-34G>C (n.390-34G>C) | dbSNP gnomAD v4 |
| 5 | g.1212269G= | CA1522518643 | SLC6A19 | c.482-34G= (n.482-34G=) c.390-34G= (n.390-34G=) | |
| 5 | g.1212269G>T | CA1522518642 | SLC6A19 | c.482-34G>T (n.482-34G>T) c.390-34G>T (n.390-34G>T) | dbSNP gnomAD v4 |
| 5 | g.1212269_1212271del | CA802929603 | SLC6A19 | c.482-34_482-32del (n.482-34_482-32del) c.390-34_390-32del (n.390-34_390-32del) | dbSNP |
| 5 | g.1212271A= | CA1522518647 | SLC6A19 | c.482-32A= (n.482-32A=) c.390-32A= (n.390-32A=) | |
| 5 | g.1212271A>G | CA3182733 | SLC6A19 | c.482-32A>G (n.482-32A>G) c.390-32A>G (n.390-32A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1212272C= | CA1522518649 | SLC6A19 | c.482-31C= (n.482-31C=) c.390-31C= (n.390-31C=) | |
| 5 | g.1212272C>G | CA2673071886 | SLC6A19 | c.482-31C>G (n.482-31C>G) c.390-31C>G (n.390-31C>G) | gnomAD v4 |
| 5 | g.1212272C>T | CA3182734 | SLC6A19 | c.482-31C>T (n.482-31C>T) c.390-31C>T (n.390-31C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1212273C= | CA1522518651 | SLC6A19 | c.482-30C= (n.482-30C=) c.390-30C= (n.390-30C=) | |
| 5 | g.1212273C>T | CA3182735 | SLC6A19 | c.482-30C>T (n.482-30C>T) c.390-30C>T (n.390-30C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1212274C>G | CA2673071887 | SLC6A19 | c.482-29C>G (n.482-29C>G) c.390-29C>G (n.390-29C>G) | gnomAD v4 |
| 5 | g.1212274C>T | CA2673071888 | SLC6A19 | c.482-29C>T (n.482-29C>T) c.390-29C>T (n.390-29C>T) | gnomAD v4 |
| 5 | g.1212275T>C | CA557556457 | SLC6A19 | c.482-28T>C (n.482-28T>C) c.390-28T>C (n.390-28T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1212275T>G | CA2578258817 | SLC6A19 | c.482-28T>G (n.482-28T>G) c.390-28T>G (n.390-28T>G) | gnomAD v4 |
| 5 | g.1212275T= | CA1522518653 | SLC6A19 | c.482-28T= (n.482-28T=) c.390-28T= (n.390-28T=) | |
| 5 | g.1212276G>A | CA2673071889 | SLC6A19 | c.482-27G>A (n.482-27G>A) c.390-27G>A (n.390-27G>A) | gnomAD v4 |
| 5 | g.1212276G= | CA1522518656 | SLC6A19 | c.482-27G= (n.482-27G=) c.390-27G= (n.390-27G=) | |
| 5 | g.1212277dup | CA1522518657 | SLC6A19 | c.482-26dup (n.482-26dup) c.390-26dup (n.390-26dup) | dbSNP |
| 5 | g.1212278G>A | CA3182736 | SLC6A19 | c.482-25G>A (n.482-25G>A) c.390-25G>A (n.390-25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1212278G= | CA1522518659 | SLC6A19 | c.482-25G= (n.482-25G=) c.390-25G= (n.390-25G=) | |
| 5 | g.1212279G>A | CA3182737 | SLC6A19 | c.482-24G>A (n.482-24G>A) c.390-24G>A (n.390-24G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1212279G= | CA1522518662 | SLC6A19 | c.482-24G= (n.482-24G=) c.390-24G= (n.390-24G=) | |
| 5 | g.1212280T>C | CA1522518666 | SLC6A19 | c.482-23T>C (n.482-23T>C) c.390-23T>C (n.390-23T>C) | dbSNP |
| 5 | g.1212280T= | CA1522518665 | SLC6A19 | c.482-23T= (n.482-23T=) c.390-23T= (n.390-23T=) | |
| 5 | g.1212281G>A | CA2590900069 | SLC6A19 | c.482-22G>A (n.482-22G>A) c.390-22G>A (n.390-22G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1212281G= | CA1522518667 | SLC6A19 | c.482-22G= (n.482-22G=) c.390-22G= (n.390-22G=) | |
| 5 | g.1212282T>C | CA1072491128 | SLC6A19 | c.482-21T>C (n.482-21T>C) c.390-21T>C (n.390-21T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1212282T= | CA1522518669 | SLC6A19 | c.482-21T= (n.482-21T=) c.390-21T= (n.390-21T=) | |
| 5 | g.1212284_1212289dup | CA557556463 | SLC6A19 | c.482-19_482-14dup (n.482-19_482-14dup) c.390-19_390-14dup (n.390-19_390-14dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1212283G>T | CA2673071890 | SLC6A19 | c.482-20G>T (n.482-20G>T) c.390-20G>T (n.390-20G>T) | gnomAD v4 |
| 5 | g.1212287A= | CA1522518672 | SLC6A19 | c.482-16A= (n.482-16A=) c.390-16A= (n.390-16A=) | |
| 5 | g.1212287A>C | CA1522518671 | SLC6A19 | c.482-16A>C (n.482-16A>C) c.390-16A>C (n.390-16A>C) | ClinVar dbSNP |
| 5 | g.1212288T>C | CA112940518 | SLC6A19 | c.482-15T>C (n.482-15T>C) c.390-15T>C (n.390-15T>C) | dbSNP gnomAD v4 |
| 5 | g.1212288T= | CA1522518675 | SLC6A19 | c.482-15T= (n.482-15T=) c.390-15T= (n.390-15T=) | |
| 5 | g.1212289G>A | CA557556465 | SLC6A19 | c.482-14G>A (n.482-14G>A) c.390-14G>A (n.390-14G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1212289G= | CA1522518678 | SLC6A19 | c.482-14G= (n.482-14G=) c.390-14G= (n.390-14G=) | |
| 5 | g.1212289G>T | CA649597514 | SLC6A19 | c.482-14G>T (n.482-14G>T) c.390-14G>T (n.390-14G>T) | gnomAD v4 COSMIC |
| 5 | g.1212290G>T | CA649597516 | SLC6A19 | c.482-13G>T (n.482-13G>T) c.390-13G>T (n.390-13G>T) | COSMIC |
| 5 | g.1212290_1212291delinsGC | CA1522518680 | SLC6A19 | c.482-13_482-12delinsGC (n.482-13_482-12delinsGC) c.390-13_390-12delinsGC (n.390-13_390-12delinsGC) | |
| 5 | g.1212291C>A | CA557556466 | SLC6A19 | c.482-12C>A (n.482-12C>A) c.390-12C>A (n.390-12C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1212291C= | CA1522518684 | SLC6A19 | c.482-12C= (n.482-12C=) c.390-12C= (n.390-12C=) | |
| 5 | g.1212291C>T | CA3182738 | SLC6A19 | c.482-12C>T (n.482-12C>T) c.390-12C>T (n.390-12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1212293del | CA1522518683 | SLC6A19 | c.482-10del (n.482-10del) c.390-10del (n.390-10del) | dbSNP |
| 5 | g.1212292C= | CA1522518687 | SLC6A19 | c.482-11C= (n.482-11C=) c.390-11C= (n.390-11C=) | |
| 5 | g.1212292C>T | CA2578258818 | SLC6A19 | c.482-11C>T (n.482-11C>T) c.390-11C>T (n.390-11C>T) | |
| 5 | g.1212296_1212297dup | CA557556468 | SLC6A19 | c.482-7_482-6dup (n.482-7_482-6dup) c.390-7_390-6dup (n.390-7_390-6dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1212296T>C | CA2578258819 | SLC6A19 | c.482-7T>C (n.482-7T>C) c.390-7T>C (n.390-7T>C) | |
| 5 | g.1212297C= | CA1522518690 | SLC6A19 | c.482-6C= (n.482-6C=) c.390-6C= (n.390-6C=) | |
| 5 | g.1212297C>G | CA2578258820 | SLC6A19 | c.482-6C>G (n.482-6C>G) c.390-6C>G (n.390-6C>G) | |
| 5 | g.1212297C>T | CA557556470 | SLC6A19 | c.482-6C>T (n.482-6C>T) c.390-6C>T (n.390-6C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.1212298C>A | CA3182739 | SLC6A19 | c.482-5C>A (n.482-5C>A) c.390-5C>A (n.390-5C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1212298C= | CA1522518695 | SLC6A19 | c.482-5C= (n.482-5C=) c.390-5C= (n.390-5C=) | |
| 5 | g.1212299C= | CA1522518698 | SLC6A19 | c.482-4C= (n.482-4C=) c.390-4C= (n.390-4C=) | |
| 5 | g.1212299C>G | CA2578258821 | SLC6A19 | c.482-4C>G (n.482-4C>G) c.390-4C>G (n.390-4C>G) | |
| 5 | g.1212299C>T | CA557556475 | SLC6A19 | c.482-4C>T (n.482-4C>T) c.390-4C>T (n.390-4C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1212301A= | CA1522518704 | SLC6A19 | c.482-2A= (n.482-2A=) c.390-2A= (n.390-2A=) | |
| 5 | g.1212301A>C | CA3182740 | SLC6A19 | c.482-2A>C (n.482-2A>C) c.390-2A>C (n.390-2A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1212301A>G | CA359065871 | SLC6A19 | c.482-2A>G (n.482-2A>G) c.390-2A>G (n.390-2A>G) | |
| 5 | g.1212301A>T | CA359065872 | SLC6A19 | c.482-2A>T (n.482-2A>T) c.390-2A>T (n.390-2A>T) | |
| 5 | g.1212302G>A | CA3182741 | SLC6A19 | c.482-1G>A (n.482-1G>A) c.390-1G>A (n.390-1G>A) | dbSNP ExAC |
| 5 | g.1212302G>C | CA359065873 | SLC6A19 | c.482-1G>C (n.482-1G>C) c.390-1G>C (n.390-1G>C) | |
| 5 | g.1212302G= | CA1522518707 | SLC6A19 | c.482-1G= (n.482-1G=) c.390-1G= (n.390-1G=) | |
| 5 | g.1212302G>T | CA359065874 | SLC6A19 | c.482-1G>T (n.482-1G>T) c.390-1G>T (n.390-1G>T) | |
| 5 | g.1212303G>A | CA359065875 | SLC6A19 | c.482G>A (p.Gly161Glu) c.390G>A (p.Arg130=) | |
| 5 | g.1212303G>C | CA359065876 | SLC6A19 | c.482G>C (p.Gly161Ala) c.390G>C (p.Arg130Ser) | dbSNP gnomAD v4 |
| 5 | g.1212303G= | CA1522518713 | SLC6A19 | c.482G= (p.Gly161=) c.390G= (p.Arg130=) | |
| 5 | g.1212303G>T | CA3182742 | SLC6A19 | c.482G>T (p.Gly161Val) c.390G>T (p.Arg130Ser) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.1212304G>A | CA443018541 | SLC6A19 | c.483G>A (p.Gly161=) c.391G>A (p.Val131Ile) | dbSNP |
| 5 | g.1212304G>C | CA443018540 | SLC6A19 | c.483G>C (p.Gly161=) c.391G>C (p.Val131Leu) | |
| 5 | g.1212304G= | CA1522518715 | SLC6A19 | c.483G= (p.Gly161=) c.391G= (p.Val131=) | |
| 5 | g.1212304G>T | CA443018538 | SLC6A19 | c.483G>T (p.Gly161=) c.391G>T (p.Val131Leu) | gnomAD v4 |
| 5 | g.1212305T>A | CA359065879 | SLC6A19 | c.484T>A (p.Tyr162Asn) c.392T>A (p.Val131Glu) | |
| 5 | g.1212305T>C | CA359065877 | SLC6A19 | c.484T>C (p.Tyr162His) c.392T>C (p.Val131Ala) | |
| 5 | g.1212305T>G | CA359065878 | SLC6A19 | c.484T>G (p.Tyr162Asp) c.392T>G (p.Val131Gly) | |
| 5 | g.1212306A>C | CA359065880 | SLC6A19 | c.485A>C (p.Tyr162Ser) c.393A>C (p.Val131=) | |
| 5 | g.1212306A>G | CA359065881 | SLC6A19 | c.485A>G (p.Tyr162Cys) c.393A>G (p.Val131=) | COSMIC |
| 5 | g.1212306A>T | CA359065882 | SLC6A19 | c.485A>T (p.Tyr162Phe) c.393A>T (p.Val131=) | |
| 5 | g.1212307T>A | CA359065883 | SLC6A19 | c.486T>A (p.Tyr162Ter) c.394T>A (p.Cys132Ser) | |
| 5 | g.1212307T>C | CA443018548 | SLC6A19 | c.486T>C (p.Tyr162=) c.394T>C (p.Cys132Arg) | gnomAD v4 |
| 5 | g.1212307T>G | CA359065884 | SLC6A19 | c.486T>G (p.Tyr162Ter) c.394T>G (p.Cys132Gly) | |
| 5 | g.1212308G>A | CA359065885 | SLC6A19 | c.487G>A (p.Val163Met) c.395G>A (p.Cys132Tyr) | |
| 5 | g.1212308G>C | CA359065886 | SLC6A19 | c.487G>C (p.Val163Leu) c.395G>C (p.Cys132Ser) | |
| 5 | g.1212308G>T | CA359065887 | SLC6A19 | c.487G>T (p.Val163Leu) c.395G>T (p.Cys132Phe) | |
| 5 | g.1212309T>A | CA359065888 | SLC6A19 | c.488T>A (p.Val163Glu) c.396T>A (p.Cys132Ter) | gnomAD v4 |
| 5 | g.1212309T>C | CA359065889 | SLC6A19 | c.488T>C (p.Val163Ala) c.396T>C (p.Cys132=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1212309T>G | CA359065890 | SLC6A19 | c.488T>G (p.Val163Gly) c.396T>G (p.Cys132Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1212309T= | CA1522518720 | SLC6A19 | c.488T= (p.Val163=) c.396T= (p.Cys132=) | |
| 5 | g.1212310G>A | CA443018551 | SLC6A19 | c.489G>A (p.Val163=) c.397G>A (p.Gly133Arg) | gnomAD v4 |
| 5 | g.1212310G>C | CA443018553 | SLC6A19 | c.489G>C (p.Val163=) c.397G>C (p.Gly133Arg) | |
| 5 | g.1212310G>T | CA443018554 | SLC6A19 | c.489G>T (p.Val163=) c.397G>T (p.Gly133Ter) | |
| 5 | g.1212311G>A | CA359065893 | SLC6A19 | c.490G>A (p.Asp164Asn) c.398G>A (p.Gly133Glu) | |
| 5 | g.1212311G>C | CA359065892 | SLC6A19 | c.490G>C (p.Asp164His) c.398G>C (p.Gly133Ala) | |
| 5 | g.1212311G>T | CA359065891 | SLC6A19 | c.490G>T (p.Asp164Tyr) c.398G>T (p.Gly133Val) | |
| 5 | g.1212312A>C | CA359065894 | SLC6A19 | c.491A>C (p.Asp164Ala) c.399A>C (p.Gly133=) | |
| 5 | g.1212312A>G | CA359065895 | SLC6A19 | c.491A>G (p.Asp164Gly) c.399A>G (p.Gly133=) | |
| 5 | g.1212312A>T | CA359065896 | SLC6A19 | c.491A>T (p.Asp164Val) c.399A>T (p.Gly133=) | |
| 5 | g.1212313C>A | CA359065897 | SLC6A19 | c.492C>A (p.Asp164Glu) c.400C>A (p.Arg134=) | |
| 5 | g.1212313C= | CA1522518725 | SLC6A19 | c.492C= (p.Asp164=) c.400C= (p.Arg134=) | |
| 5 | g.1212313C>G | CA359065898 | SLC6A19 | c.492C>G (p.Asp164Glu) c.400C>G (p.Arg134Gly) | gnomAD v4 |
| 5 | g.1212313C>T | CA3182743 | SLC6A19 | c.492C>T (p.Asp164=) c.400C>T (p.Arg134Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.1212314G>A | CA3182744 | SLC6A19 | c.493G>A (p.Glu165Lys) c.401G>A (p.Arg134Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1212314G>C | CA359065900 | SLC6A19 | c.493G>C (p.Glu165Gln) c.401G>C (p.Arg134Pro) | |
| 5 | g.1212314G= | CA1522518729 | SLC6A19 | c.493G= (p.Glu165=) c.401G= (p.Arg134=) | |
| 5 | g.1212314G>T | CA359065901 | SLC6A19 | c.493G>T (p.Glu165Ter) c.401G>T (p.Arg134Leu) | |
| 5 | g.1212315A= | CA1522518732 | SLC6A19 | c.494A= (p.Glu165=) c.402A= (p.Arg134=) | |
| 5 | g.1212315A>C | CA359065902 | SLC6A19 | c.494A>C (p.Glu165Ala) c.402A>C (p.Arg134=) | |
| 5 | g.1212315A>G | CA359065903 | SLC6A19 | c.494A>G (p.Glu165Gly) c.402A>G (p.Arg134=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1212315A>T | CA359065904 | SLC6A19 | c.494A>T (p.Glu165Val) c.402A>T (p.Arg134=) | |
| 5 | g.1212316G>A | CA443018568 | SLC6A19 | c.495G>A (p.Glu165=) c.403G>A (p.Val135Met) | |
| 5 | g.1212316G>C | CA3182745 | SLC6A19 | c.495G>C (p.Glu165Asp) c.403G>C (p.Val135Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1212316G= | CA1522518735 | SLC6A19 | c.495G= (p.Glu165=) c.403G= (p.Val135=) | |
| 5 | g.1212316G>T | CA359065905 | SLC6A19 | c.495G>T (p.Glu165Asp) c.403G>T (p.Val135Leu) | COSMIC |
| 5 | g.1212317T>A | CA359065907 | SLC6A19 | c.496T>A (p.Cys166Ser) c.404T>A (p.Val135Glu) | |
| 5 | g.1212317T>C | CA359065908 | SLC6A19 | c.496T>C (p.Cys166Arg) c.404T>C (p.Val135Ala) | dbSNP gnomAD v4 |
| 5 | g.1212317T>G | CA359065906 | SLC6A19 | c.496T>G (p.Cys166Gly) c.404T>G (p.Val135Gly) | |
| 5 | g.1212317T= | CA1522518741 | SLC6A19 | c.496T= (p.Cys166=) c.404T= (p.Val135=) | |
| 5 | g.1212318G>A | CA359065909 | SLC6A19 | c.497G>A (p.Cys166Tyr) c.405G>A (p.Val135=) | |
| 5 | g.1212318G>C | CA359065910 | SLC6A19 | c.497G>C (p.Cys166Ser) c.405G>C (p.Val135=) | |
| 5 | g.1212318G>T | CA359065911 | SLC6A19 | c.497G>T (p.Cys166Phe) c.405G>T (p.Val135=) | |
| 5 | g.1212319C>A | CA359065912 | SLC6A19 | c.498C>A (p.Cys166Ter) c.406C>A (p.Arg136Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1212319C= | CA1522518744 | SLC6A19 | c.498C= (p.Cys166=) c.406C= (p.Arg136=) | |
| 5 | g.1212319C>G | CA359065913 | SLC6A19 | c.498C>G (p.Cys166Trp) c.406C>G (p.Arg136Gly) | |
| 5 | g.1212319C>T | CA3182746 | SLC6A19 | c.498C>T (p.Cys166=) c.406C>T (p.Arg136Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1212320G>A | CA3182747 | SLC6A19 | c.499G>A (p.Ala167Thr) c.407G>A (p.Arg136His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1212320G>C | CA359065914 | SLC6A19 | c.499G>C (p.Ala167Pro) c.407G>C (p.Arg136Pro) | |
| 5 | g.1212320G= | CA1522518750 | SLC6A19 | c.499G= (p.Ala167=) c.407G= (p.Arg136=) | |
| 5 | g.1212320G>T | CA359065915 | SLC6A19 | c.499G>T (p.Ala167Ser) c.407G>T (p.Arg136Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1212321C>A | CA359065916 | SLC6A19 | c.500C>A (p.Ala167Asp) c.408C>A (p.Arg136=) | |
| 5 | g.1212321C= | CA1522518754 | SLC6A19 | c.500C= (p.Ala167=) c.408C= (p.Arg136=) | |
| 5 | g.1212321C>G | CA359065917 | SLC6A19 | c.500C>G (p.Ala167Gly) c.408C>G (p.Arg136=) | |
| 5 | g.1212321C>T | CA359065918 | SLC6A19 | c.500C>T (p.Ala167Val) c.408C>T (p.Arg136=) | dbSNP |
| 5 | g.1212322C>A | CA443018575 | SLC6A19 | c.501C>A (p.Ala167=) c.409C>A (p.Gln137Lys) | gnomAD v4 |
| 5 | g.1212322C>G | CA443018577 | SLC6A19 | c.501C>G (p.Ala167=) c.409C>G (p.Gln137Glu) | |
| 5 | g.1212322C>T | CA443018576 | SLC6A19 | c.501C>T (p.Ala167=) c.409C>T (p.Gln137Ter) | gnomAD v4 |
| 5 | g.1212323A= | CA1522518760 | SLC6A19 | c.502A= (p.Arg168=) c.410A= (p.Gln137=) | |
| 5 | g.1212323A>C | CA443018578 | SLC6A19 | c.502A>C (p.Arg168=) c.410A>C (p.Gln137Pro) | |
| 5 | g.1212323A>G | CA3182748 | SLC6A19 | c.502A>G (p.Arg168Gly) c.410A>G (p.Gln137Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1212323A>T | CA359065919 | SLC6A19 | c.502A>T (p.Arg168Trp) c.410A>T (p.Gln137Leu) | COSMIC |
| 5 | g.1212324G>A | CA3182749 | SLC6A19 | c.503G>A (p.Arg168Lys) c.411G>A (p.Gln137=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1212324G>C | CA359065921 | SLC6A19 | c.503G>C (p.Arg168Thr) c.411G>C (p.Gln137His) | |
| 5 | g.1212324G= | CA1522518764 | SLC6A19 | c.503G= (p.Arg168=) c.411G= (p.Gln137=) | |
| 5 | g.1212324G>T | CA359065920 | SLC6A19 | c.503G>T (p.Arg168Met) c.411G>T (p.Gln137His) | |
| 5 | g.1212325G>A | CA443018582 | SLC6A19 | c.504G>A (p.Arg168=) c.412G>A (p.Glu138Lys) | |
| 5 | g.1212325G>C | CA359065922 | SLC6A19 | c.504G>C (p.Arg168Ser) c.412G>C (p.Glu138Gln) | |
| 5 | g.1212325G>T | CA359065923 | SLC6A19 | c.504G>T (p.Arg168Ser) c.412G>T (p.Glu138Ter) | |
| 5 | g.1212326A>C | CA359065924 | SLC6A19 | c.505A>C (p.Ser169Arg) c.413A>C (p.Glu138Ala) | |
| 5 | g.1212326A>G | CA359065926 | SLC6A19 | c.505A>G (p.Ser169Gly) c.413A>G (p.Glu138Gly) | |
| 5 | g.1212326A>T | CA359065928 | SLC6A19 | c.505A>T (p.Ser169Cys) c.413A>T (p.Glu138Val) | |
| 5 | g.1212327G>A | CA359065930 | SLC6A19 | c.506G>A (p.Ser169Asn) c.414G>A (p.Glu138=) | |
| 5 | g.1212327G>C | CA359065932 | SLC6A19 | c.506G>C (p.Ser169Thr) c.414G>C (p.Glu138Asp) | |
| 5 | g.1212327G= | CA1522518768 | SLC6A19 | c.506G= (p.Ser169=) c.414G= (p.Glu138=) | |
| 5 | g.1212327G>T | CA3182750 | SLC6A19 | c.506G>T (p.Ser169Ile) c.414G>T (p.Glu138Asp) | dbSNP ExAC gnomAD v2 |
| 5 | g.1212328C>A | CA359065935 | SLC6A19 | c.507C>A (p.Ser169Arg) c.415C>A (p.Leu139Ile) | |
| 5 | g.1212328C>G | CA359065936 | SLC6A19 | c.507C>G (p.Ser169Arg) c.415C>G (p.Leu139Val) | COSMIC |
| 5 | g.1212328C>T | CA443018588 | SLC6A19 | c.507C>T (p.Ser169=) c.415C>T (p.Leu139Phe) | |
| 5 | g.1212329T>A | CA359065953 | SLC6A19 | c.508T>A (p.Ser170Thr) c.416T>A (p.Leu139His) | |
| 5 | g.1212329T>C | CA359065948 | SLC6A19 | c.508T>C (p.Ser170Pro) c.416T>C (p.Leu139Pro) | |
| 5 | g.1212329T>G | CA359065946 | SLC6A19 | c.508T>G (p.Ser170Ala) c.416T>G (p.Leu139Arg) | |
| 5 | g.1212330C>A | CA359065956 | SLC6A19 | c.509C>A (p.Ser170Tyr) c.417C>A (p.Leu139=) | |
| 5 | g.1212330C= | CA1522518770 | SLC6A19 | c.509C= (p.Ser170=) c.417C= (p.Leu139=) | |
| 5 | g.1212330C>G | CA359065960 | SLC6A19 | c.509C>G (p.Ser170Cys) c.417C>G (p.Leu139=) | |
| 5 | g.1212330C>T | CA3182751 | SLC6A19 | c.509C>T (p.Ser170Phe) c.417C>T (p.Leu139=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1212331C>A | CA443018592 | SLC6A19 | c.510C>A (p.Ser170=) c.418C>A (p.Pro140Thr) | |
| 5 | g.1212331C>G | CA443018593 | SLC6A19 | c.510C>G (p.Ser170=) c.418C>G (p.Pro140Ala) | |
| 5 | g.1212331C>T | CA443018594 | SLC6A19 | c.510C>T (p.Ser170=) c.418C>T (p.Pro140Ser) | |
| 5 | g.1212332C>A | CA359065967 | SLC6A19 | c.511C>A (p.Pro171Thr) c.419C>A (p.Pro140His) | |
| 5 | g.1212332C= | CA1522518774 | SLC6A19 | c.511C= (p.Pro171=) c.419C= (p.Pro140=) | |
| 5 | g.1212332C>G | CA359065969 | SLC6A19 | c.511C>G (p.Pro171Ala) c.419C>G (p.Pro140Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.1212332C>T | CA359065972 | SLC6A19 | c.511C>T (p.Pro171Ser) c.419C>T (p.Pro140Leu) | |
| 5 | g.1212333C>A | CA359065982 | SLC6A19 | c.512C>A (p.Pro171His) c.420C>A (p.Pro140=) | |
| 5 | g.1212333C>G | CA359065981 | SLC6A19 | c.512C>G (p.Pro171Arg) c.420C>G (p.Pro140=) | |
| 5 | g.1212333C>T | CA359065974 | SLC6A19 | c.512C>T (p.Pro171Leu) c.420C>T (p.Pro140=) | |
| 5 | g.1212334T>A | CA443018600 | SLC6A19 | c.513T>A (p.Pro171=) c.421T>A (p.Cys141Ser) | |
| 5 | g.1212334T>C | CA443018602 | SLC6A19 | c.513T>C (p.Pro171=) c.421T>C (p.Cys141Arg) | |
| 5 | g.1212334T>G | CA443018601 | SLC6A19 | c.513T>G (p.Pro171=) c.421T>G (p.Cys141Gly) | |
| 5 | g.1212338_1212339insCTATGTGG | CA2673071891 | SLC6A19 | c.517_518insCTATGTGG (p.Asp173AlafsTer?) c.425_426insCTATGTGG (p.Leu143TyrfsTer?) | gnomAD v4 |
| 5 | g.1212335G>A | CA359065984 | SLC6A19 | c.514G>A (p.Val172Met) c.422G>A (p.Cys141Tyr) | |
| 5 | g.1212335G>C | CA359065986 | SLC6A19 | c.514G>C (p.Val172Leu) c.422G>C (p.Cys141Ser) | |
| 5 | g.1212335G>T | CA359065988 | SLC6A19 | c.514G>T (p.Val172Leu) c.422G>T (p.Cys141Phe) | |
| 5 | g.1212336T>A | CA359065993 | SLC6A19 | c.515T>A (p.Val172Glu) c.423T>A (p.Cys141Ter) | |
| 5 | g.1212336T>C | CA359065996 | SLC6A19 | c.515T>C (p.Val172Ala) c.423T>C (p.Cys141=) | gnomAD v4 |
| 5 | g.1212336T>G | CA359065999 | SLC6A19 | c.515T>G (p.Val172Gly) c.423T>G (p.Cys141Trp) | |
| 5 | g.1212337G>A | CA443018672 | SLC6A19 | c.516G>A (p.Val172=) c.424G>A (p.Gly142Arg) | |
| 5 | g.1212337G>C | CA443018673 | SLC6A19 | c.516G>C (p.Val172=) c.424G>C (p.Gly142Arg) | gnomAD v4 |
| 5 | g.1212337G>T | CA443018674 | SLC6A19 | c.516G>T (p.Val172=) c.424G>T (p.Gly142Ter) | COSMIC |
| 5 | g.1212338G>A | CA115307 | SLC6A19 | c.517G>A (p.Asp173Asn) c.425G>A (p.Gly142Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1212338G>C | CA359066002 | SLC6A19 | c.517G>C (p.Asp173His) c.425G>C (p.Gly142Ala) | |
| 5 | g.1212338G= | CA1522518779 | SLC6A19 | c.517G= (p.Asp173=) c.425G= (p.Gly142=) | |
| 5 | g.1212338G>T | CA359066005 | SLC6A19 | c.517G>T (p.Asp173Tyr) c.425G>T (p.Gly142Val) | gnomAD v4 |
| 5 | g.1212339A>C | CA359066010 | SLC6A19 | c.518A>C (p.Asp173Ala) c.426A>C (p.Gly142=) | |
| 5 | g.1212339A>G | CA359066012 | SLC6A19 | c.518A>G (p.Asp173Gly) c.426A>G (p.Gly142=) | |
| 5 | g.1212339A>T | CA359066016 | SLC6A19 | c.518A>T (p.Asp173Val) c.426A>T (p.Gly142=) | |
| 5 | g.1212340C>A | CA359066018 | SLC6A19 | c.519C>A (p.Asp173Glu) c.427C>A (p.Leu143Ile) | gnomAD v4 |
| 5 | g.1212340C= | CA1522518785 | SLC6A19 | c.519C= (p.Asp173=) c.427C= (p.Leu143=) | |
| 5 | g.1212340C>G | CA359066020 | SLC6A19 | c.519C>G (p.Asp173Glu) c.427C>G (p.Leu143Val) | |
| 5 | g.1212340C>T | CA443018675 | SLC6A19 | c.519C>T (p.Asp173=) c.427C>T (p.Leu143=) | dbSNP gnomAD v4 |
| 5 | g.1212341T>A | CA359066024 | SLC6A19 | c.520T>A (p.Tyr174Asn) c.428T>A (p.Leu143Gln) | |
| 5 | g.1212341T>C | CA359066026 | SLC6A19 | c.520T>C (p.Tyr174His) c.428T>C (p.Leu143Pro) | |
| 5 | g.1212341T>G | CA359066029 | SLC6A19 | c.520T>G (p.Tyr174Asp) c.428T>G (p.Leu143Arg) | |
| 5 | g.1212342A= | CA1522518786 | SLC6A19 | c.521A= (p.Tyr174=) c.429A= (p.Leu143=) | |
| 5 | g.1212342A>C | CA359066033 | SLC6A19 | c.521A>C (p.Tyr174Ser) c.429A>C (p.Leu143=) | |
| 5 | g.1212342A>G | CA112940543 | SLC6A19 | c.521A>G (p.Tyr174Cys) c.429A>G (p.Leu143=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.1212342A>T | CA359066039 | SLC6A19 | c.521A>T (p.Tyr174Phe) c.429A>T (p.Leu143=) | |
| 5 | g.1212343C>A | CA359066041 | SLC6A19 | c.522C>A (p.Tyr174Ter) c.430C>A (p.Leu144Ile) | |
| 5 | g.1212343C>G | CA359066044 | SLC6A19 | c.522C>G (p.Tyr174Ter) c.430C>G (p.Leu144Val) | |
| 5 | g.1212343C>T | CA443018678 | SLC6A19 | c.522C>T (p.Tyr174=) c.430C>T (p.Leu144Phe) | |
| 5 | g.1212344T>A | CA359066049 | SLC6A19 | c.523T>A (p.Phe175Ile) c.431T>A (p.Leu144His) | |
| 5 | g.1212344T>C | CA359066055 | SLC6A19 | c.523T>C (p.Phe175Leu) c.431T>C (p.Leu144Pro) | gnomAD v4 |
| 5 | g.1212344T>G | CA359066052 | SLC6A19 | c.523T>G (p.Phe175Val) c.431T>G (p.Leu144Arg) | COSMIC |
| 5 | g.1212345T>A | CA359066058 | SLC6A19 | c.524T>A (p.Phe175Tyr) c.432T>A (p.Leu144=) | |
| 5 | g.1212345T>C | CA359066061 | SLC6A19 | c.524T>C (p.Phe175Ser) c.432T>C (p.Leu144=) | |
| 5 | g.1212345T>G | CA359066064 | SLC6A19 | c.524T>G (p.Phe175Cys) c.432T>G (p.Leu144=) | |
| 5 | g.1212346C>A | CA359066067 | SLC6A19 | c.525C>A (p.Phe175Leu) c.433C>A (p.Leu145Met) | |
| 5 | g.1212346C= | CA1522518787 | SLC6A19 | c.525C= (p.Phe175=) c.433C= (p.Leu145=) | |
| 5 | g.1212346C>G | CA359066071 | SLC6A19 | c.525C>G (p.Phe175Leu) c.433C>G (p.Leu145Val) | gnomAD v4 |
| 5 | g.1212346C>T | CA112940547 | SLC6A19 | c.525C>T (p.Phe175=) c.433C>T (p.Leu145=) | dbSNP |
| 5 | g.1212347T>A | CA359066081 | SLC6A19 | c.526T>A (p.Trp176Arg) c.434T>A (p.Leu145Gln) | |
| 5 | g.1212347T>C | CA359066079 | SLC6A19 | c.526T>C (p.Trp176Arg) c.434T>C (p.Leu145Pro) | |
| 5 | g.1212347T>G | CA359066075 | SLC6A19 | c.526T>G (p.Trp176Gly) c.434T>G (p.Leu145Arg) | |
| 5 | g.1212348G>A | CA359066083 | SLC6A19 | c.527G>A (p.Trp176Ter) c.435G>A (p.Leu145=) | |
| 5 | g.1212348G>C | CA359066085 | SLC6A19 | c.527G>C (p.Trp176Ser) c.435G>C (p.Leu145=) | |
| 5 | g.1212348G>T | CA359066087 | SLC6A19 | c.527G>T (p.Trp176Leu) c.435G>T (p.Leu145=) | |
| 5 | g.1212349G>A | CA3182752 | SLC6A19 | c.528G>A (p.Trp176Ter) c.436G>A (p.Val146Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.1212349G>C | CA359066092 | SLC6A19 | c.528G>C (p.Trp176Cys) c.436G>C (p.Val146Leu) | |
| 5 | g.1212349G= | CA1522518790 | SLC6A19 | c.528G= (p.Trp176=) c.436G= (p.Val146=) | |
| 5 | g.1212349G>T | CA359066095 | SLC6A19 | c.528G>T (p.Trp176Cys) c.436G>T (p.Val146Leu) | |
| 5 | g.1212350T>A | CA359066099 | SLC6A19 | c.529T>A (p.Tyr177Asn) c.437T>A (p.Val146Glu) | |
| 5 | g.1212350T>C | CA359066104 | SLC6A19 | c.529T>C (p.Tyr177His) c.437T>C (p.Val146Ala) | dbSNP |
| 5 | g.1212350T>G | CA359066101 | SLC6A19 | c.529T>G (p.Tyr177Asp) c.437T>G (p.Val146Gly) | |
| 5 | g.1212350T= | CA1522518793 | SLC6A19 | c.529T= (p.Tyr177=) c.437T= (p.Val146=) | |
| 5 | g.1212351A= | CA1522518795 | SLC6A19 | c.530A= (p.Tyr177=) c.438A= (p.Val146=) | |
| 5 | g.1212351A>C | CA359066108 | SLC6A19 | c.530A>C (p.Tyr177Ser) c.438A>C (p.Val146=) | |
| 5 | g.1212351A>G | CA359066111 | SLC6A19 | c.530A>G (p.Tyr177Cys) c.438A>G (p.Val146=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1212351A>T | CA359066116 | SLC6A19 | c.530A>T (p.Tyr177Phe) c.438A>T (p.Val146=) | |
| 5 | g.1212352C>A | CA112940575 | SLC6A19 | c.531C>A (p.Tyr177Ter) c.439C>A (p.Pro147Thr) | dbSNP |
| 5 | g.1212352C= | CA1522518799 | SLC6A19 | c.531C= (p.Tyr177=) c.439C= (p.Pro147=) | |
| 5 | g.1212352C>G | CA359066122 | SLC6A19 | c.531C>G (p.Tyr177Ter) c.439C>G (p.Pro147Ala) | |
| 5 | g.1212352C>T | CA443018685 | SLC6A19 | c.531C>T (p.Tyr177=) c.439C>T (p.Pro147Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1212353C>A | CA443018688 | SLC6A19 | c.532C>A (p.Arg178=) c.440C>A (p.Pro147Gln) | |
| 5 | g.1212353C= | CA1522518804 | SLC6A19 | c.532C= (p.Arg178=) c.440C= (p.Pro147=) | |
| 5 | g.1212353C>G | CA359066126 | SLC6A19 | c.532C>G (p.Arg178Gly) c.440C>G (p.Pro147Arg) | dbSNP |
| 5 | g.1212353C>T | CA3182753 | SLC6A19 | c.532C>T (p.Arg178Ter) c.440C>T (p.Pro147Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1212354G>A | CA3182754 | SLC6A19 | c.533G>A (p.Arg178Gln) c.441G>A (p.Pro147=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1212354G>C | CA359066134 | SLC6A19 | c.533G>C (p.Arg178Pro) c.441G>C (p.Pro147=) | |
| 5 | g.1212354G= | CA1522518811 | SLC6A19 | c.533G= (p.Arg178=) c.441G= (p.Pro147=) | |
| 5 | g.1212354G>T | CA359066138 | SLC6A19 | c.533G>T (p.Arg178Leu) c.441G>T (p.Pro147=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1212355A>C | CA443018690 | SLC6A19 | c.534A>C (p.Arg178=) c.442A>C (p.Arg148=) | |
| 5 | g.1212355A>G | CA443018691 | SLC6A19 | c.534A>G (p.Arg178=) c.442A>G (p.Arg148Gly) | |
| 5 | g.1212355A>T | CA443018692 | SLC6A19 | c.534A>T (p.Arg178=) c.442A>T (p.Arg148Ter) | |
| 5 | g.1212356G>A | CA359066145 | SLC6A19 | c.535G>A (p.Glu179Lys) c.443G>A (p.Arg148Lys) | |
| 5 | g.1212356G>C | CA3182755 | SLC6A19 | c.535G>C (p.Glu179Gln) c.443G>C (p.Arg148Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1212356G= | CA1522518816 | SLC6A19 | c.535G= (p.Glu179=) c.443G= (p.Arg148=) | |
| 5 | g.1212356G>T | CA359066141 | SLC6A19 | c.535G>T (p.Glu179Ter) c.443G>T (p.Arg148Ile) | |
| 5 | g.1212357A>C | CA359066149 | SLC6A19 | c.536A>C (p.Glu179Ala) c.444A>C (p.Arg148Ser) | |
| 5 | g.1212357A>G | CA359066155 | SLC6A19 | c.536A>G (p.Glu179Gly) c.444A>G (p.Arg148=) | |
| 5 | g.1212357A>T | CA359066152 | SLC6A19 | c.536A>T (p.Glu179Val) c.444A>T (p.Arg148Ser) | gnomAD v4 |
| 5 | g.1212358G>A | CA112940577 | SLC6A19 | c.537G>A (p.Glu179=) c.445G>A (p.Asp149Asn) | dbSNP |
| 5 | g.1212358G>C | CA359066156 | SLC6A19 | c.537G>C (p.Glu179Asp) c.445G>C (p.Asp149His) | |
| 5 | g.1212358G= | CA1522518821 | SLC6A19 | c.537G= (p.Glu179=) c.445G= (p.Asp149=) | |
| 5 | g.1212358G>T | CA359066161 | SLC6A19 | c.537G>T (p.Glu179Asp) c.445G>T (p.Asp149Tyr) | |
| 5 | g.1212359A= | CA1522518823 | SLC6A19 | c.538A= (p.Thr180=) c.446A= (p.Asp149=) | |
| 5 | g.1212359A>C | CA359066165 | SLC6A19 | c.538A>C (p.Thr180Pro) c.446A>C (p.Asp149Ala) | dbSNP |
| 5 | g.1212359A>G | CA359066168 | SLC6A19 | c.538A>G (p.Thr180Ala) c.446A>G (p.Asp149Gly) | |
| 5 | g.1212359A>T | CA3182756 | SLC6A19 | c.538A>T (p.Thr180Ser) c.446A>T (p.Asp149Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.1212360C>A | CA359066172 | SLC6A19 | c.539C>A (p.Thr180Lys) c.447C>A (p.Asp149Glu) | gnomAD v4 |
| 5 | g.1212360C= | CA1522518826 | SLC6A19 | c.539C= (p.Thr180=) c.447C= (p.Asp149=) | |
| 5 | g.1212360C>G | CA359066177 | SLC6A19 | c.539C>G (p.Thr180Arg) c.447C>G (p.Asp149Glu) | |
| 5 | g.1212360C>T | CA3182757 | SLC6A19 | c.539C>T (p.Thr180Met) c.447C>T (p.Asp149=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1212361G>A | CA3182758 | SLC6A19 | c.540G>A (p.Thr180=) c.448G>A (p.Ala150Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.1212361G>C | CA443018698 | SLC6A19 | c.540G>C (p.Thr180=) c.448G>C (p.Ala150Pro) | |
| 5 | g.1212361G= | CA1522518832 | SLC6A19 | c.540G= (p.Thr180=) c.448G= (p.Ala150=) | |
| 5 | g.1212361G>T | CA443018700 | SLC6A19 | c.540G>T (p.Thr180=) c.448G>T (p.Ala150Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |