| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.765233G>A | CA407963626 | SLC52A3 | c.542C>T (p.Pro181Leu) n.593C>T | |
| 20 | g.765233G>C | CA407963625 | SLC52A3 | c.542C>G (p.Pro181Arg) n.593C>G | |
| 20 | g.765233G>T | CA407963624 | SLC52A3 | c.542C>A (p.Pro181His) n.593C>A | ClinVar gnomAD v4 |
| 20 | g.765234G>A | CA407963627 | SLC52A3 | c.541C>T (p.Pro181Ser) n.592C>T | |
| 20 | g.765234G>C | CA407963628 | SLC52A3 | c.541C>G (p.Pro181Ala) n.592C>G | |
| 20 | g.765234G>T | CA407963629 | SLC52A3 | c.541C>A (p.Pro181Thr) n.592C>A | |
| 20 | g.765235T>A | CA509542611 | SLC52A3 | c.540A>T (p.Val180=) n.591A>T | |
| 20 | g.765235T>C | CA509542610 | SLC52A3 | c.540A>G (p.Val180=) n.591A>G | |
| 20 | g.765235T>G | CA509542609 | SLC52A3 | c.540A>C (p.Val180=) n.591A>C | |
| 20 | g.765236A>C | CA407963630 | SLC52A3 | c.539T>G (p.Val180Gly) n.590T>G | |
| 20 | g.765236A>G | CA407963631 | SLC52A3 | c.539T>C (p.Val180Ala) n.590T>C | |
| 20 | g.765236A>T | CA407963632 | SLC52A3 | c.539T>A (p.Val180Glu) n.590T>A | |
| 20 | g.765237C>A | CA407963633 | SLC52A3 | c.538G>T (p.Val180Leu) n.589G>T | |
| 20 | g.765237C>G | CA407963634 | SLC52A3 | c.538G>C (p.Val180Leu) n.589G>C | |
| 20 | g.765237C>T | CA407963635 | SLC52A3 | c.538G>A (p.Val180Ile) n.589G>A | gnomAD v4 |
| 20 | g.765238A>C | CA509542612 | SLC52A3 | c.537T>G (p.Pro179=) n.588T>G | |
| 20 | g.765238A>G | CA509542614 | SLC52A3 | c.537T>C (p.Pro179=) n.588T>C | gnomAD v4 |
| 20 | g.765238A>T | CA509542613 | SLC52A3 | c.537T>A (p.Pro179=) n.588T>A | |
| 20 | g.765239G>A | CA407963636 | SLC52A3 | c.536C>T (p.Pro179Leu) n.587C>T | |
| 20 | g.765239G>C | CA407963637 | SLC52A3 | c.536C>G (p.Pro179Arg) n.587C>G | |
| 20 | g.765239G>T | CA407963638 | SLC52A3 | c.536C>A (p.Pro179His) n.587C>A | |
| 20 | g.765240G>A | CA407963641 | SLC52A3 | c.535C>T (p.Pro179Ser) n.586C>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.765240G>C | CA407963640 | SLC52A3 | c.535C>G (p.Pro179Ala) n.586C>G | |
| 20 | g.765240G= | CA2345350056 | SLC52A3 | c.535C= (p.Pro179=) n.586C= | |
| 20 | g.765240G>T | CA407963639 | SLC52A3 | c.535C>A (p.Pro179Thr) n.586C>A | |
| 20 | g.765241G>A | CA509542615 | SLC52A3 | c.534C>T (p.Ser178=) n.585C>T | |
| 20 | g.765241G>C | CA407963642 | SLC52A3 | c.534C>G (p.Ser178Arg) n.585C>G | |
| 20 | g.765241G>T | CA407963643 | SLC52A3 | c.534C>A (p.Ser178Arg) n.585C>A | |
| 20 | g.765242C>A | CA407963644 | SLC52A3 | c.533G>T (p.Ser178Ile) n.584G>T | |
| 20 | g.765242C= | CA2345350057 | SLC52A3 | c.533G= (p.Ser178=) n.584G= | |
| 20 | g.765242C>G | CA407963645 | SLC52A3 | c.533G>C (p.Ser178Thr) n.584G>C | |
| 20 | g.765242C>T | CA407963646 | SLC52A3 | c.533G>A (p.Ser178Asn) n.584G>A | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.765243T>A | CA407963647 | SLC52A3 | c.532A>T (p.Ser178Cys) n.583A>T | |
| 20 | g.765243T>C | CA407963648 | SLC52A3 | c.532A>G (p.Ser178Gly) n.583A>G | |
| 20 | g.765243T>G | CA407963649 | SLC52A3 | c.532A>C (p.Ser178Arg) n.583A>C | |
| 20 | g.765244T>A | CA509542616 | SLC52A3 | c.531A>T (p.Pro177=) n.582A>T | |
| 20 | g.765244T>C | CA509542617 | SLC52A3 | c.531A>G (p.Pro177=) n.582A>G | |
| 20 | g.765244T>G | CA509542618 | SLC52A3 | c.531A>C (p.Pro177=) n.582A>C | |
| 20 | g.765245G>A | CA407963650 | SLC52A3 | c.530C>T (p.Pro177Leu) n.581C>T | gnomAD v4 |
| 20 | g.765245G>C | CA407963651 | SLC52A3 | c.530C>G (p.Pro177Arg) n.581C>G | gnomAD v4 |
| 20 | g.765245G>T | CA407963652 | SLC52A3 | c.530C>A (p.Pro177Gln) n.581C>A | |
| 20 | g.765246G>A | CA407963653 | SLC52A3 | c.529C>T (p.Pro177Ser) n.580C>T | |
| 20 | g.765246G>C | CA407963654 | SLC52A3 | c.529C>G (p.Pro177Ala) n.580C>G | |
| 20 | g.765246G= | CA2345350058 | SLC52A3 | c.529C= (p.Pro177=) n.580C= | |
| 20 | g.765246G>T | CA407963655 | SLC52A3 | c.529C>A (p.Pro177Thr) n.580C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765247T>A | CA509542619 | SLC52A3 | c.528A>T (p.Val176=) n.579A>T | |
| 20 | g.765247T>C | CA509542620 | SLC52A3 | c.528A>G (p.Val176=) n.579A>G | |
| 20 | g.765247T>G | CA509542621 | SLC52A3 | c.528A>C (p.Val176=) n.579A>C | |
| 20 | g.765248A>C | CA407963658 | SLC52A3 | c.527T>G (p.Val176Gly) n.578T>G | |
| 20 | g.765248A>G | CA407963657 | SLC52A3 | c.527T>C (p.Val176Ala) n.578T>C | |
| 20 | g.765248A>T | CA407963656 | SLC52A3 | c.527T>A (p.Val176Glu) n.578T>A | |
| 20 | g.765249C>A | CA407963659 | SLC52A3 | c.526G>T (p.Val176Leu) n.577G>T | |
| 20 | g.765249C= | CA2345350059 | SLC52A3 | c.526G= (p.Val176=) n.577G= | |
| 20 | g.765249C>G | CA407963660 | SLC52A3 | c.526G>C (p.Val176Leu) n.577G>C | dbSNP gnomAD v2 |
| 20 | g.765249C>T | CA9724757 | SLC52A3 | c.526G>A (p.Val176Ile) n.577G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765249_765257del | CA2651547880 | SLC52A3 | c.518_526del (p.Ser173_Val176delinsLeu) n.569_577del | gnomAD v4 |
| 20 | g.765250G>A | CA9724758 | SLC52A3 | c.525C>T (p.Ser175=) n.576C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765250G>C | CA407963661 | SLC52A3 | c.525C>G (p.Ser175Arg) n.576C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.765250G= | CA2345350060 | SLC52A3 | c.525C= (p.Ser175=) n.576C= | |
| 20 | g.765250G>T | CA9724759 | SLC52A3 | c.525C>A (p.Ser175Arg) n.576C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765251C>A | CA407963662 | SLC52A3 | c.524G>T (p.Ser175Ile) n.575G>T | |
| 20 | g.765251C>G | CA407963663 | SLC52A3 | c.524G>C (p.Ser175Thr) n.575G>C | |
| 20 | g.765251C>T | CA407963664 | SLC52A3 | c.524G>A (p.Ser175Asn) n.575G>A | |
| 20 | g.765252T>A | CA407963665 | SLC52A3 | c.523A>T (p.Ser175Cys) n.574A>T | |
| 20 | g.765252T>C | CA407963666 | SLC52A3 | c.523A>G (p.Ser175Gly) n.574A>G | gnomAD v4 |
| 20 | g.765252T>G | CA407963667 | SLC52A3 | c.523A>C (p.Ser175Arg) n.574A>C | |
| 20 | g.765253G>A | CA509542625 | SLC52A3 | c.522C>T (p.Asp174=) n.573C>T | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.765253G>C | CA407963668 | SLC52A3 | c.522C>G (p.Asp174Glu) n.573C>G | |
| 20 | g.765253G>T | CA407963669 | SLC52A3 | c.522C>A (p.Asp174Glu) n.573C>A | |
| 20 | g.765254T>A | CA407963671 | SLC52A3 | c.521A>T (p.Asp174Val) n.572A>T | |
| 20 | g.765254T>C | CA9724760 | SLC52A3 | c.521A>G (p.Asp174Gly) n.572A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765254T>G | CA407963670 | SLC52A3 | c.521A>C (p.Asp174Ala) n.572A>C | |
| 20 | g.765254T= | CA2345350061 | SLC52A3 | c.521A= (p.Asp174=) n.572A= | |
| 20 | g.765255C>A | CA407963672 | SLC52A3 | c.520G>T (p.Asp174Tyr) n.571G>T | |
| 20 | g.765255C>G | CA407963673 | SLC52A3 | c.520G>C (p.Asp174His) n.571G>C | gnomAD v4 |
| 20 | g.765255C>T | CA407963674 | SLC52A3 | c.520G>A (p.Asp174Asn) n.571G>A | |
| 20 | g.765256T>A | CA509542630 | SLC52A3 | c.519A>T (p.Ser173=) n.570A>T | |
| 20 | g.765256T>C | CA509542631 | SLC52A3 | c.519A>G (p.Ser173=) n.570A>G | |
| 20 | g.765256T>G | CA509542632 | SLC52A3 | c.519A>C (p.Ser173=) n.570A>C | |
| 20 | g.765257_765259del | CA2651547881 | SLC52A3 | c.517_519del (p.Ser173del) n.568_570del | gnomAD v4 |
| 20 | g.765257G>A | CA407963675 | SLC52A3 | c.518C>T (p.Ser173Leu) n.569C>T | |
| 20 | g.765257G>C | CA407963676 | SLC52A3 | c.518C>G (p.Ser173Ter) n.569C>G | |
| 20 | g.765257G>T | CA407963677 | SLC52A3 | c.518C>A (p.Ser173Ter) n.569C>A | |
| 20 | g.765258A= | CA2345350062 | SLC52A3 | c.517T= (p.Ser173=) n.568T= | |
| 20 | g.765258A>C | CA407963678 | SLC52A3 | c.517T>G (p.Ser173Ala) n.568T>G | |
| 20 | g.765258A>G | CA9724761 | SLC52A3 | c.517T>C (p.Ser173Pro) n.568T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 20 | g.765258A>T | CA407963679 | SLC52A3 | c.517T>A (p.Ser173Thr) n.568T>A | |
| 20 | g.765259T>A | CA509542633 | SLC52A3 | c.516A>T (p.Ile172=) n.567A>T | |
| 20 | g.765259T>C | CA9724762 | SLC52A3 | c.516A>G (p.Ile172Met) n.567A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765259T>G | CA509542634 | SLC52A3 | c.516A>C (p.Ile172=) n.567A>C | |
| 20 | g.765259T= | CA2345350063 | SLC52A3 | c.516A= (p.Ile172=) n.567A= | |
| 20 | g.765259_765263del | CA2651547882 | SLC52A3 | c.512_516del (p.Glu171ValfsTer14) n.563_567del | gnomAD v4 |
| 20 | g.765260A= | CA2345350064 | SLC52A3 | c.515T= (p.Ile172=) n.566T= | |
| 20 | g.765260A>C | CA407963680 | SLC52A3 | c.515T>G (p.Ile172Arg) n.566T>G | |
| 20 | g.765260A>G | CA9724763 | SLC52A3 | c.515T>C (p.Ile172Thr) n.566T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.765260A>T | CA407963681 | SLC52A3 | c.515T>A (p.Ile172Lys) n.566T>A | |
| 20 | g.765261T>A | CA407963683 | SLC52A3 | c.514A>T (p.Ile172Leu) n.565A>T | |
| 20 | g.765261T>C | CA9724764 | SLC52A3 | c.514A>G (p.Ile172Val) n.565A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765261T>G | CA407963682 | SLC52A3 | c.514A>C (p.Ile172Leu) n.565A>C | dbSNP gnomAD v4 |
| 20 | g.765261T= | CA2345350065 | SLC52A3 | c.514A= (p.Ile172=) n.565A= | |
| 20 | g.765262C>A | CA407963684 | SLC52A3 | c.513G>T (p.Glu171Asp) n.564G>T | |
| 20 | g.765262C= | CA2345350066 | SLC52A3 | c.513G= (p.Glu171=) n.564G= | |
| 20 | g.765262C>G | CA407963685 | SLC52A3 | c.513G>C (p.Glu171Asp) n.564G>C | |
| 20 | g.765262C>T | CA310678907 | SLC52A3 | c.513G>A (p.Glu171=) n.564G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765263T>A | CA407963686 | SLC52A3 | c.512A>T (p.Glu171Val) n.563A>T | |
| 20 | g.765263T>C | CA407963687 | SLC52A3 | c.512A>G (p.Glu171Gly) n.563A>G | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.765263T>G | CA407963688 | SLC52A3 | c.512A>C (p.Glu171Ala) n.563A>C | |
| 20 | g.765263T= | CA2345350067 | SLC52A3 | c.512A= (p.Glu171=) n.563A= | |
| 20 | g.765264C>A | CA407963689 | SLC52A3 | c.511G>T (p.Glu171Ter) n.562G>T | |
| 20 | g.765264C= | CA2345350068 | SLC52A3 | c.511G= (p.Glu171=) n.562G= | |
| 20 | g.765264C>G | CA407963690 | SLC52A3 | c.511G>C (p.Glu171Gln) n.562G>C | |
| 20 | g.765264C>T | CA310678915 | SLC52A3 | c.511G>A (p.Glu171Lys) n.562G>A | dbSNP |
| 20 | g.765265A= | CA2345350069 | SLC52A3 | c.510T= (p.Thr170=) n.561T= | |
| 20 | g.765265A>C | CA509542639 | SLC52A3 | c.510T>G (p.Thr170=) n.561T>G | |
| 20 | g.765265A>G | CA9724765 | SLC52A3 | c.510T>C (p.Thr170=) n.561T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765265A>T | CA509542640 | SLC52A3 | c.510T>A (p.Thr170=) n.561T>A | |
| 20 | g.765266G>A | CA407963691 | SLC52A3 | c.509C>T (p.Thr170Ile) n.560C>T | |
| 20 | g.765266G>C | CA407963692 | SLC52A3 | c.509C>G (p.Thr170Ser) n.560C>G | gnomAD v4 |
| 20 | g.765266G>T | CA407963693 | SLC52A3 | c.509C>A (p.Thr170Asn) n.560C>A | |
| 20 | g.765267T>A | CA407963695 | SLC52A3 | c.508A>T (p.Thr170Ser) n.559A>T | |
| 20 | g.765267T>C | CA9724766 | SLC52A3 | c.508A>G (p.Thr170Ala) n.559A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.765267T>G | CA407963694 | SLC52A3 | c.508A>C (p.Thr170Pro) n.559A>C | |
| 20 | g.765267T= | CA2345350070 | SLC52A3 | c.508A= (p.Thr170=) n.559A= | |
| 20 | g.765268G>A | CA310678928 | SLC52A3 | c.507C>T (p.Val169=) n.558C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765268G>C | CA509542641 | SLC52A3 | c.507C>G (p.Val169=) n.558C>G | gnomAD v4 |
| 20 | g.765268G= | CA2345350071 | SLC52A3 | c.507C= (p.Val169=) n.558C= | |
| 20 | g.765268G>T | CA509542642 | SLC52A3 | c.507C>A (p.Val169=) n.558C>A | |
| 20 | g.765269A>C | CA407963696 | SLC52A3 | c.506T>G (p.Val169Gly) n.557T>G | |
| 20 | g.765269A>G | CA407963697 | SLC52A3 | c.506T>C (p.Val169Ala) n.557T>C | |
| 20 | g.765269A>T | CA407963698 | SLC52A3 | c.506T>A (p.Val169Asp) n.557T>A | |
| 20 | g.765270C>A | CA407963699 | SLC52A3 | c.505G>T (p.Val169Phe) n.556G>T | |
| 20 | g.765270C= | CA2345350072 | SLC52A3 | c.505G= (p.Val169=) n.556G= | |
| 20 | g.765270C>G | CA407963700 | SLC52A3 | c.505G>C (p.Val169Leu) n.556G>C | |
| 20 | g.765270C>T | CA407963701 | SLC52A3 | c.505G>A (p.Val169Ile) n.556G>A | dbSNP gnomAD v4 |
| 20 | g.765271A>C | CA407963703 | SLC52A3 | c.504T>G (p.Asn168Lys) n.555T>G | |
| 20 | g.765271A>G | CA509542643 | SLC52A3 | c.504T>C (p.Asn168=) n.555T>C | gnomAD v4 |
| 20 | g.765271A>T | CA407963702 | SLC52A3 | c.504T>A (p.Asn168Lys) n.555T>A | |
| 20 | g.765272T>A | CA407963704 | SLC52A3 | c.503A>T (p.Asn168Ile) n.554A>T | |
| 20 | g.765272T>C | CA9724767 | SLC52A3 | c.503A>G (p.Asn168Ser) n.554A>G | ClinVar dbSNP ExAC gnomAD v4 |
| 20 | g.765272T>G | CA407963705 | SLC52A3 | c.503A>C (p.Asn168Thr) n.554A>C | gnomAD v4 |
| 20 | g.765272T= | CA2345350073 | SLC52A3 | c.503A= (p.Asn168=) n.554A= | |
| 20 | g.765273T>A | CA407963706 | SLC52A3 | c.502A>T (p.Asn168Tyr) n.553A>T | |
| 20 | g.765273T>C | CA407963707 | SLC52A3 | c.502A>G (p.Asn168Asp) n.553A>G | |
| 20 | g.765273T>G | CA407963708 | SLC52A3 | c.502A>C (p.Asn168His) n.553A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.765273T= | CA2345350074 | SLC52A3 | c.502A= (p.Asn168=) n.553A= | |
| 20 | g.765274G>A | CA509542645 | SLC52A3 | c.501C>T (p.Val167=) n.552C>T | |
| 20 | g.765274G>C | CA509542646 | SLC52A3 | c.501C>G (p.Val167=) n.552C>G | |
| 20 | g.765274G>T | CA509542644 | SLC52A3 | c.501C>A (p.Val167=) n.552C>A | |
| 20 | g.765275A>C | CA407963709 | SLC52A3 | c.500T>G (p.Val167Gly) n.551T>G | |
| 20 | g.765275A>G | CA407963711 | SLC52A3 | c.500T>C (p.Val167Ala) n.551T>C | |
| 20 | g.765275A>T | CA407963710 | SLC52A3 | c.500T>A (p.Val167Asp) n.551T>A | |
| 20 | g.765276C>A | CA407963712 | SLC52A3 | c.499G>T (p.Val167Phe) n.550G>T | |
| 20 | g.765276C= | CA2345350075 | SLC52A3 | c.499G= (p.Val167=) n.550G= | |
| 20 | g.765276C>G | CA407963713 | SLC52A3 | c.499G>C (p.Val167Leu) n.550G>C | |
| 20 | g.765276C>T | CA9724768 | SLC52A3 | c.499G>A (p.Val167Ile) n.550G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765277G>A | CA310678976 | SLC52A3 | c.498C>T (p.Cys166=) n.549C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765277G>C | CA407963714 | SLC52A3 | c.498C>G (p.Cys166Trp) n.549C>G | |
| 20 | g.765277G= | CA2345350076 | SLC52A3 | c.498C= (p.Cys166=) n.549C= | |
| 20 | g.765277G>T | CA407963715 | SLC52A3 | c.498C>A (p.Cys166Ter) n.549C>A | |
| 20 | g.765278C>A | CA407963716 | SLC52A3 | c.497G>T (p.Cys166Phe) n.548G>T | |
| 20 | g.765278C>G | CA407963717 | SLC52A3 | c.497G>C (p.Cys166Ser) n.548G>C | |
| 20 | g.765278C>T | CA407963718 | SLC52A3 | c.497G>A (p.Cys166Tyr) n.548G>A | gnomAD v4 |
| 20 | g.765279A= | CA2345350077 | SLC52A3 | c.496T= (p.Cys166=) n.547T= | |
| 20 | g.765279A>C | CA407963719 | SLC52A3 | c.496T>G (p.Cys166Gly) n.547T>G | |
| 20 | g.765279A>G | CA9724769 | SLC52A3 | c.496T>C (p.Cys166Arg) n.547T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.765279A>T | CA407963720 | SLC52A3 | c.496T>A (p.Cys166Ser) n.547T>A | |
| 20 | g.765280G>A | CA509542651 | SLC52A3 | c.495C>T (p.Thr165=) n.546C>T | |
| 20 | g.765280G>C | CA509542653 | SLC52A3 | c.495C>G (p.Thr165=) n.546C>G | |
| 20 | g.765280G>T | CA509542652 | SLC52A3 | c.495C>A (p.Thr165=) n.546C>A | |
| 20 | g.765281G>A | CA407963723 | SLC52A3 | c.494C>T (p.Thr165Ile) n.545C>T | |
| 20 | g.765281G>C | CA407963721 | SLC52A3 | c.494C>G (p.Thr165Ser) n.545C>G | |
| 20 | g.765281G= | CA2345350078 | SLC52A3 | c.494C= (p.Thr165=) n.545C= | |
| 20 | g.765281G>T | CA407963722 | SLC52A3 | c.494C>A (p.Thr165Asn) n.545C>A | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.765282T>A | CA407963724 | SLC52A3 | c.493A>T (p.Thr165Ser) n.544A>T | |
| 20 | g.765282T>C | CA407963725 | SLC52A3 | c.493A>G (p.Thr165Ala) n.544A>G | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.765282T>G | CA407963726 | SLC52A3 | c.493A>C (p.Thr165Pro) n.544A>C | |
| 20 | g.765282T= | CA2345350079 | SLC52A3 | c.493A= (p.Thr165=) n.544A= | |
| 20 | g.765283A>C | CA509542657 | SLC52A3 | c.492T>G (p.Thr164=) n.543T>G | |
| 20 | g.765283A>G | CA509542658 | SLC52A3 | c.492T>C (p.Thr164=) n.543T>C | gnomAD v4 |
| 20 | g.765283A>T | CA509542659 | SLC52A3 | c.492T>A (p.Thr164=) n.543T>A | |
| 20 | g.765284G>A | CA407963727 | SLC52A3 | c.491C>T (p.Thr164Ile) n.542C>T | |
| 20 | g.765284G>C | CA407963728 | SLC52A3 | c.491C>G (p.Thr164Ser) n.542C>G | |
| 20 | g.765284G>T | CA407963729 | SLC52A3 | c.491C>A (p.Thr164Asn) n.542C>A | ClinVar dbSNP |
| 20 | g.765285T>A | CA407963730 | SLC52A3 | c.490A>T (p.Thr164Ser) n.541A>T | |
| 20 | g.765285T>C | CA407963731 | SLC52A3 | c.490A>G (p.Thr164Ala) n.541A>G | |
| 20 | g.765285T>G | CA407963732 | SLC52A3 | c.490A>C (p.Thr164Pro) n.541A>C | |
| 20 | g.765286G>A | CA509542661 | SLC52A3 | c.489C>T (p.Leu163=) n.540C>T | |
| 20 | g.765286G>C | CA509542662 | SLC52A3 | c.489C>G (p.Leu163=) n.540C>G | |
| 20 | g.765286G>T | CA509542663 | SLC52A3 | c.489C>A (p.Leu163=) n.540C>A | |
| 20 | g.765287A>C | CA407963733 | SLC52A3 | c.488T>G (p.Leu163Arg) n.539T>G | |
| 20 | g.765287A>G | CA407963734 | SLC52A3 | c.488T>C (p.Leu163Pro) n.539T>C | gnomAD v4 |
| 20 | g.765287A>T | CA407963735 | SLC52A3 | c.488T>A (p.Leu163His) n.539T>A | |
| 20 | g.765288G>A | CA407963738 | SLC52A3 | c.487C>T (p.Leu163Phe) n.538C>T | |
| 20 | g.765288G>C | CA407963737 | SLC52A3 | c.487C>G (p.Leu163Val) n.538C>G | |
| 20 | g.765288G>T | CA407963736 | SLC52A3 | c.487C>A (p.Leu163Ile) n.538C>A | |
| 20 | g.765289A= | CA2345350080 | SLC52A3 | c.486T= (p.Gly162=) n.537T= | |
| 20 | g.765289A>C | CA509542665 | SLC52A3 | c.486T>G (p.Gly162=) n.537T>G | |
| 20 | g.765289A>G | CA509542666 | SLC52A3 | c.486T>C (p.Gly162=) n.537T>C | dbSNP gnomAD v4 |
| 20 | g.765289A>T | CA509542667 | SLC52A3 | c.486T>A (p.Gly162=) n.537T>A | |
| 20 | g.765290C>A | CA407963739 | SLC52A3 | c.485G>T (p.Gly162Val) n.536G>T | ClinVar dbSNP |
| 20 | g.765290C= | CA2345350081 | SLC52A3 | c.485G= (p.Gly162=) n.536G= | |
| 20 | g.765290C>G | CA407963740 | SLC52A3 | c.485G>C (p.Gly162Ala) n.536G>C | |
| 20 | g.765290C>T | CA407963741 | SLC52A3 | c.485G>A (p.Gly162Asp) n.536G>A | gnomAD v4 |
| 20 | g.765291C>A | CA407963742 | SLC52A3 | c.484G>T (p.Gly162Cys) n.535G>T | COSMIC |
| 20 | g.765291C= | CA2345350082 | SLC52A3 | c.484G= (p.Gly162=) n.535G= | |
| 20 | g.765291C>G | CA407963743 | SLC52A3 | c.484G>C (p.Gly162Arg) n.535G>C | |
| 20 | g.765291C>T | CA310678985 | SLC52A3 | c.484G>A (p.Gly162Ser) n.535G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765291_765294dup | CA634326094 | SLC52A3 | c.481_484dup (p.Gly162ValfsTer11) n.532_535dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.765292G>A | CA9724770 | SLC52A3 | c.483C>T (p.Ser161=) n.534C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765292G>C | CA509542670 | SLC52A3 | c.483C>G (p.Ser161=) n.534C>G | dbSNP gnomAD v4 |
| 20 | g.765292G= | CA2345350083 | SLC52A3 | c.483C= (p.Ser161=) n.534C= | |
| 20 | g.765292G>T | CA509542671 | SLC52A3 | c.483C>A (p.Ser161=) n.534C>A | |
| 20 | g.765293G>A | CA407963744 | SLC52A3 | c.482C>T (p.Ser161Phe) n.533C>T | |
| 20 | g.765293G>C | CA407963745 | SLC52A3 | c.482C>G (p.Ser161Cys) n.533C>G | gnomAD v4 |
| 20 | g.765293G>T | CA407963746 | SLC52A3 | c.482C>A (p.Ser161Tyr) n.533C>A | |
| 20 | g.765294A>C | CA407963747 | SLC52A3 | c.481T>G (p.Ser161Ala) n.532T>G | |
| 20 | g.765294A>G | CA407963748 | SLC52A3 | c.481T>C (p.Ser161Pro) n.532T>C | |
| 20 | g.765294A>T | CA407963749 | SLC52A3 | c.481T>A (p.Ser161Thr) n.532T>A | |
| 20 | g.765295G>A | CA509542673 | SLC52A3 | c.480C>T (p.Gly160=) n.531C>T | |
| 20 | g.765295G>C | CA509542675 | SLC52A3 | c.480C>G (p.Gly160=) n.531C>G | |
| 20 | g.765295G>T | CA509542674 | SLC52A3 | c.480C>A (p.Gly160=) n.531C>A | |
| 20 | g.765296C>A | CA407963751 | SLC52A3 | c.479G>T (p.Gly160Val) n.530G>T | |
| 20 | g.765296C>G | CA407963752 | SLC52A3 | c.479G>C (p.Gly160Ala) n.530G>C | |
| 20 | g.765296C>T | CA407963750 | SLC52A3 | c.479G>A (p.Gly160Asp) n.530G>A | |
| 20 | g.765297C>A | CA407963753 | SLC52A3 | c.478G>T (p.Gly160Cys) n.529G>T | COSMIC COSMIC |
| 20 | g.765297C= | CA2345350084 | SLC52A3 | c.478G= (p.Gly160=) n.529G= | |
| 20 | g.765297C>G | CA407963754 | SLC52A3 | c.478G>C (p.Gly160Arg) n.529G>C | |
| 20 | g.765297C>T | CA9724771 | SLC52A3 | c.478G>A (p.Gly160Ser) n.529G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765298C>A | CA407963755 | SLC52A3 | c.477G>T (p.Gln159His) n.528G>T | |
| 20 | g.765298C>G | CA407963756 | SLC52A3 | c.477G>C (p.Gln159His) n.528G>C | |
| 20 | g.765298C>T | CA509542679 | SLC52A3 | c.477G>A (p.Gln159=) n.528G>A | |
| 20 | g.765299T>A | CA407963757 | SLC52A3 | c.476A>T (p.Gln159Leu) n.527A>T | |
| 20 | g.765299T>C | CA407963758 | SLC52A3 | c.476A>G (p.Gln159Arg) n.527A>G | |
| 20 | g.765299T>G | CA407963759 | SLC52A3 | c.476A>C (p.Gln159Pro) n.527A>C | |
| 20 | g.765300G>A | CA407963760 | SLC52A3 | c.475C>T (p.Gln159Ter) n.526C>T | |
| 20 | g.765300G>C | CA407963761 | SLC52A3 | c.475C>G (p.Gln159Glu) n.526C>G | |
| 20 | g.765300G>T | CA407963762 | SLC52A3 | c.475C>A (p.Gln159Lys) n.526C>A | |
| 20 | g.765301G>A | CA9724772 | SLC52A3 | c.474C>T (p.Ala158=) n.525C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765301G>C | CA509542683 | SLC52A3 | c.474C>G (p.Ala158=) n.525C>G | |
| 20 | g.765301G= | CA2345350085 | SLC52A3 | c.474C= (p.Ala158=) n.525C= | |
| 20 | g.765301G>T | CA509542684 | SLC52A3 | c.474C>A (p.Ala158=) n.525C>A | |
| 20 | g.765302G>A | CA407963763 | SLC52A3 | c.473C>T (p.Ala158Val) n.524C>T | |
| 20 | g.765302G>C | CA407963764 | SLC52A3 | c.473C>G (p.Ala158Gly) n.524C>G | |
| 20 | g.765302G>T | CA407963765 | SLC52A3 | c.473C>A (p.Ala158Asp) n.524C>A | |
| 20 | g.765303C>A | CA407963768 | SLC52A3 | c.472G>T (p.Ala158Ser) n.523G>T | |
| 20 | g.765303C>G | CA407963767 | SLC52A3 | c.472G>C (p.Ala158Pro) n.523G>C | |
| 20 | g.765303C>T | CA407963766 | SLC52A3 | c.472G>A (p.Ala158Thr) n.523G>A | gnomAD v4 |
| 20 | g.765304A= | CA2345350086 | SLC52A3 | c.471T= (p.Leu157=) n.522T= | |
| 20 | g.765304A>C | CA509542687 | SLC52A3 | c.471T>G (p.Leu157=) n.522T>G | |
| 20 | g.765304A>G | CA509542688 | SLC52A3 | c.471T>C (p.Leu157=) n.522T>C | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.765304A>T | CA509542689 | SLC52A3 | c.471T>A (p.Leu157=) n.522T>A | |
| 20 | g.765305A>C | CA407963769 | SLC52A3 | c.470T>G (p.Leu157Arg) n.521T>G | |
| 20 | g.765305A>G | CA407963770 | SLC52A3 | c.470T>C (p.Leu157Pro) n.521T>C | |
| 20 | g.765305A>T | CA407963771 | SLC52A3 | c.470T>A (p.Leu157His) n.521T>A | |
| 20 | g.765306G>A | CA407963772 | SLC52A3 | c.469C>T (p.Leu157Phe) n.520C>T | gnomAD v4 |
| 20 | g.765306G>C | CA407963773 | SLC52A3 | c.469C>G (p.Leu157Val) n.520C>G | |
| 20 | g.765306G>T | CA407963774 | SLC52A3 | c.469C>A (p.Leu157Ile) n.520C>A | |
| 20 | g.765307A= | CA2345350087 | SLC52A3 | c.468T= (p.Ala156=) n.519T= | |
| 20 | g.765307A>C | CA509542695 | SLC52A3 | c.468T>G (p.Ala156=) n.519T>G | |
| 20 | g.765307A>G | CA509542693 | SLC52A3 | c.468T>C (p.Ala156=) n.519T>C | ClinVar dbSNP gnomAD v4 |
| 20 | g.765307A>T | CA509542694 | SLC52A3 | c.468T>A (p.Ala156=) n.519T>A | gnomAD v4 |
| 20 | g.765308G>A | CA407963775 | SLC52A3 | c.467C>T (p.Ala156Val) n.518C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 20 | g.765308G>C | CA407963776 | SLC52A3 | c.467C>G (p.Ala156Gly) n.518C>G | |
| 20 | g.765308G= | CA2345350088 | SLC52A3 | c.467C= (p.Ala156=) n.518C= | |
| 20 | g.765308G>T | CA407963777 | SLC52A3 | c.467C>A (p.Ala156Asp) n.518C>A | |
| 20 | g.765310_765311insCAAATAGCTGGGATTACAGGTGCATGCC | CA634326095 | SLC52A3 | c.467_468insATGCACCTGTAATCCCAGCTATTTGGGC (p.Leu157CysfsTer24) n.518_519insATGCACCTGTAATCCCAGCTATTTGGGC | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.765309C>A | CA407963778 | SLC52A3 | c.466G>T (p.Ala156Ser) n.517G>T | |
| 20 | g.765309C>G | CA407963779 | SLC52A3 | c.466G>C (p.Ala156Pro) n.517G>C | |
| 20 | g.765309C>T | CA407963780 | SLC52A3 | c.466G>A (p.Ala156Thr) n.517G>A | |
| 20 | g.765310dup | CA2651547883 | SLC52A3 | c.466dup (p.Ala156GlyfsTer16) n.517dup | gnomAD v4 |
| 20 | g.765310C>A | CA509542699 | SLC52A3 | c.465G>T (p.Val155=) n.516G>T | |
| 20 | g.765310C>G | CA509542700 | SLC52A3 | c.465G>C (p.Val155=) n.516G>C | |
| 20 | g.765310C>T | CA509542701 | SLC52A3 | c.465G>A (p.Val155=) n.516G>A | |
| 20 | g.765311A>C | CA407963782 | SLC52A3 | c.464T>G (p.Val155Gly) n.515T>G | |
| 20 | g.765311A>G | CA407963783 | SLC52A3 | c.464T>C (p.Val155Ala) n.515T>C | |
| 20 | g.765311A>T | CA407963781 | SLC52A3 | c.464T>A (p.Val155Glu) n.515T>A | |
| 20 | g.765311_765312insAATAGCTGGGATTACAGGTGCATG | CA2651547884 | SLC52A3 | c.463_464insCATGCACCTGTAATCCCAGCTATT (p.Val155delinsAlaCysThrCysAsnProSerTyrLeu) n.514_515insCATGCACCTGTAATCCCAGCTATT | gnomAD v4 |
| 20 | g.765312C>A | CA407963784 | SLC52A3 | c.463G>T (p.Val155Leu) n.514G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.765312C= | CA2345350089 | SLC52A3 | c.463G= (p.Val155=) n.514G= | |
| 20 | g.765312C>G | CA407963785 | SLC52A3 | c.463G>C (p.Val155Leu) n.514G>C | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.765312C>T | CA407963786 | SLC52A3 | c.463G>A (p.Val155Met) n.514G>A | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.765313C>A | CA509542703 | SLC52A3 | c.462G>T (p.Leu154=) n.513G>T | |
| 20 | g.765313C>G | CA509542704 | SLC52A3 | c.462G>C (p.Leu154=) n.513G>C | |
| 20 | g.765313C>T | CA509542705 | SLC52A3 | c.462G>A (p.Leu154=) n.513G>A | |
| 20 | g.765314A>C | CA407963787 | SLC52A3 | c.461T>G (p.Leu154Arg) n.512T>G | |
| 20 | g.765314A>G | CA407963788 | SLC52A3 | c.461T>C (p.Leu154Pro) n.512T>C | |
| 20 | g.765314A>T | CA407963789 | SLC52A3 | c.461T>A (p.Leu154Gln) n.512T>A | |
| 20 | g.765314_765337delinsAGGGCGGGCAAGAGGCCGCTGAGT | CA2345350090 | SLC52A3 | c.438_461delinsACTCAGCGGCCTCTTGCCCGCCCT (p.Gly146=) n.489_512delinsACTCAGCGGCCTCTTGCCCGCCCT | |
| 20 | g.765315G>A | CA509542708 | SLC52A3 | c.460C>T (p.Leu154=) n.511C>T | dbSNP |
| 20 | g.765315G>C | CA407963790 | SLC52A3 | c.460C>G (p.Leu154Val) n.511C>G | |
| 20 | g.765315G= | CA2345350091 | SLC52A3 | c.460C= (p.Leu154=) n.511C= | |
| 20 | g.765315G>T | CA407963791 | SLC52A3 | c.460C>A (p.Leu154Met) n.511C>A | |
| 20 | g.765315_765337del | CA9724773 | SLC52A3 | c.438_460del (p.Leu147GlyfsTer17) n.489_511del | dbSNP ExAC |
| 20 | g.765316G>A | CA509542710 | SLC52A3 | c.459C>T (p.Ala153=) n.510C>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.765316G>C | CA509542711 | SLC52A3 | c.459C>G (p.Ala153=) n.510C>G | |
| 20 | g.765316G= | CA2345350092 | SLC52A3 | c.459C= (p.Ala153=) n.510C= | |
| 20 | g.765316G>T | CA9724774 | SLC52A3 | c.459C>A (p.Ala153=) n.510C>A | dbSNP ExAC gnomAD v4 |
| 20 | g.765317G>A | CA407963792 | SLC52A3 | c.458C>T (p.Ala153Val) n.509C>T | |
| 20 | g.765317G>C | CA407963793 | SLC52A3 | c.458C>G (p.Ala153Gly) n.509C>G | gnomAD v4 |
| 20 | g.765317G>T | CA407963794 | SLC52A3 | c.458C>A (p.Ala153Asp) n.509C>A | |
| 20 | g.765318C>A | CA9724775 | SLC52A3 | c.457G>T (p.Ala153Ser) n.508G>T | dbSNP ExAC gnomAD v4 |
| 20 | g.765318C= | CA2345350093 | SLC52A3 | c.457G= (p.Ala153=) n.508G= | |
| 20 | g.765318C>G | CA407963796 | SLC52A3 | c.457G>C (p.Ala153Pro) n.508G>C | |
| 20 | g.765318C>T | CA407963795 | SLC52A3 | c.457G>A (p.Ala153Thr) n.508G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765319G>A | CA9724776 | SLC52A3 | c.456C>T (p.Pro152=) n.507C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765319G>C | CA509542717 | SLC52A3 | c.456C>G (p.Pro152=) n.507C>G | |
| 20 | g.765319G= | CA2345350094 | SLC52A3 | c.456C= (p.Pro152=) n.507C= | |
| 20 | g.765319G>T | CA509542718 | SLC52A3 | c.456C>A (p.Pro152=) n.507C>A | dbSNP |
| 20 | g.765320G>A | CA407963797 | SLC52A3 | c.455C>T (p.Pro152Leu) n.506C>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.765320G>C | CA407963798 | SLC52A3 | c.455C>G (p.Pro152Arg) n.506C>G | |
| 20 | g.765320G= | CA2345350095 | SLC52A3 | c.455C= (p.Pro152=) n.506C= | |
| 20 | g.765320G>T | CA407963799 | SLC52A3 | c.455C>A (p.Pro152His) n.506C>A | |
| 20 | g.765321G>A | CA407963800 | SLC52A3 | c.454C>T (p.Pro152Ser) n.505C>T | |
| 20 | g.765321G>C | CA407963801 | SLC52A3 | c.454C>G (p.Pro152Ala) n.505C>G | |
| 20 | g.765321G>T | CA407963802 | SLC52A3 | c.454C>A (p.Pro152Thr) n.505C>A | |
| 20 | g.765322C>A | CA407963803 | SLC52A3 | c.453G>T (p.Leu151Phe) n.504G>T | |
| 20 | g.765322C>G | CA407963804 | SLC52A3 | c.453G>C (p.Leu151Phe) n.504G>C | |
| 20 | g.765322C>T | CA509542722 | SLC52A3 | c.453G>A (p.Leu151=) n.504G>A | |
| 20 | g.765323A>C | CA407963805 | SLC52A3 | c.452T>G (p.Leu151Trp) n.503T>G | |
| 20 | g.765323A>G | CA407963806 | SLC52A3 | c.452T>C (p.Leu151Ser) n.503T>C | |
| 20 | g.765323A>T | CA407963807 | SLC52A3 | c.452T>A (p.Leu151Ter) n.503T>A | |
| 20 | g.765324A>C | CA407963808 | SLC52A3 | c.451T>G (p.Leu151Val) n.502T>G | |
| 20 | g.765324A>G | CA509542724 | SLC52A3 | c.451T>C (p.Leu151=) n.502T>C | gnomAD v4 |
| 20 | g.765324A>T | CA407963809 | SLC52A3 | c.451T>A (p.Leu151Met) n.502T>A | |
| 20 | g.765325G>A | CA509542725 | SLC52A3 | c.450C>T (p.Leu150=) n.501C>T | dbSNP gnomAD v4 |
| 20 | g.765325G>C | CA509542726 | SLC52A3 | c.450C>G (p.Leu150=) n.501C>G | gnomAD v4 |
| 20 | g.765325G= | CA2345350096 | SLC52A3 | c.450C= (p.Leu150=) n.501C= | |
| 20 | g.765325G>T | CA509542727 | SLC52A3 | c.450C>A (p.Leu150=) n.501C>A | |
| 20 | g.765326A>C | CA407963810 | SLC52A3 | c.449T>G (p.Leu150Arg) n.500T>G | |
| 20 | g.765326A>G | CA407963811 | SLC52A3 | c.449T>C (p.Leu150Pro) n.500T>C | |
| 20 | g.765326A>T | CA407963812 | SLC52A3 | c.449T>A (p.Leu150His) n.500T>A | |
| 20 | g.765327G>A | CA9724777 | SLC52A3 | c.448C>T (p.Leu150Phe) n.499C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765327G>C | CA407963813 | SLC52A3 | c.448C>G (p.Leu150Val) n.499C>G | |
| 20 | g.765327G= | CA2345350097 | SLC52A3 | c.448C= (p.Leu150=) n.499C= | |
| 20 | g.765327G>T | CA407963814 | SLC52A3 | c.448C>A (p.Leu150Ile) n.499C>A | |
| 20 | g.765328G>A | CA509542730 | SLC52A3 | c.447C>T (p.Gly149=) n.498C>T | gnomAD v4 |
| 20 | g.765328G>C | CA509542732 | SLC52A3 | c.447C>G (p.Gly149=) n.498C>G | |
| 20 | g.765328G= | CA2345350098 | SLC52A3 | c.447C= (p.Gly149=) n.498C= | |
| 20 | g.765328G>T | CA9724778 | SLC52A3 | c.447C>A (p.Gly149=) n.498C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.765329C>A | CA9724779 | SLC52A3 | c.446G>T (p.Gly149Val) n.497G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765329C= | CA2345350099 | SLC52A3 | c.446G= (p.Gly149=) n.497G= | |
| 20 | g.765329C>G | CA407963815 | SLC52A3 | c.446G>C (p.Gly149Ala) n.497G>C | |
| 20 | g.765329C>T | CA407963816 | SLC52A3 | c.446G>A (p.Gly149Asp) n.497G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.765330C>A | CA407963817 | SLC52A3 | c.445G>T (p.Gly149Cys) n.496G>T | |
| 20 | g.765330C= | CA2345350100 | SLC52A3 | c.445G= (p.Gly149=) n.496G= | |
| 20 | g.765330C>G | CA407963818 | SLC52A3 | c.445G>C (p.Gly149Arg) n.496G>C | |
| 20 | g.765330C>T | CA407963819 | SLC52A3 | c.445G>A (p.Gly149Ser) n.496G>A | ClinVar dbSNP |
| 20 | g.765331G>A | CA9724780 | SLC52A3 | c.444C>T (p.Ser148=) n.495C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765331G>C | CA407963821 | SLC52A3 | c.444C>G (p.Ser148Arg) n.495C>G | |
| 20 | g.765331G= | CA2345350101 | SLC52A3 | c.444C= (p.Ser148=) n.495C= | |
| 20 | g.765331G>T | CA407963820 | SLC52A3 | c.444C>A (p.Ser148Arg) n.495C>A | |
| 20 | g.765332C>A | CA407963822 | SLC52A3 | c.443G>T (p.Ser148Ile) n.494G>T | |
| 20 | g.765332C= | CA2345350102 | SLC52A3 | c.443G= (p.Ser148=) n.494G= | |
| 20 | g.765332C>G | CA407963823 | SLC52A3 | c.443G>C (p.Ser148Thr) n.494G>C | |
| 20 | g.765332C>T | CA407963824 | SLC52A3 | c.443G>A (p.Ser148Asn) n.494G>A | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.765333T>A | CA407963825 | SLC52A3 | c.442A>T (p.Ser148Cys) n.493A>T | |
| 20 | g.765333T>C | CA407963826 | SLC52A3 | c.442A>G (p.Ser148Gly) n.493A>G | |
| 20 | g.765333T>G | CA407963827 | SLC52A3 | c.442A>C (p.Ser148Arg) n.493A>C |