Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.765198T>C | CA2815008445 | SLC52A3 | c.567+10A>G (n.567+10A>G) n.618+10A>G | |
20 | g.765199G= | CA2345350036 | SLC52A3 | c.567+9C= (n.567+9C=) n.618+9C= | |
20 | g.765199G>T | CA634326121 | SLC52A3 | c.567+9C>A (n.567+9C>A) n.618+9C>A | dbSNP gnomAD v2 gnomAD v4 |
20 | g.765202G>A | CA634326122 | SLC52A3 | c.567+6C>T (n.567+6C>T) n.618+6C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.765202G= | CA2345350037 | SLC52A3 | c.567+6C= (n.567+6C=) n.618+6C= | |
20 | g.765203G>A | CA9724749 | SLC52A3 | c.567+5C>T (n.567+5C>T) n.618+5C>T | dbSNP ExAC gnomAD v2 |
20 | g.765203G>C | CA9724750 | SLC52A3 | c.567+5C>G (n.567+5C>G) n.618+5C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.765203G= | CA2345350038 | SLC52A3 | c.567+5C= (n.567+5C=) n.618+5C= | |
20 | g.765203G>T | CA2815008448 | SLC52A3 | c.567+5C>A (n.567+5C>A) n.618+5C>A | |
20 | g.765206del | CA2651547879 | SLC52A3 | c.567+2del (n.567+2del) n.618+2del | gnomAD v4 |
20 | g.765206A= | CA2345350039 | SLC52A3 | c.567+2T= (n.567+2T=) n.618+2T= | |
20 | g.765206A>C | CA407963569 | SLC52A3 | c.567+2T>G (n.567+2T>G) n.618+2T>G | |
20 | g.765206A>G | CA407963570 | SLC52A3 | c.567+2T>C (n.567+2T>C) n.618+2T>C | dbSNP gnomAD v2 gnomAD v4 |
20 | g.765206A>T | CA407963571 | SLC52A3 | c.567+2T>A (n.567+2T>A) n.618+2T>A | |
20 | g.765207C>A | CA407963574 | SLC52A3 | c.567+1G>T (n.567+1G>T) n.618+1G>T | |
20 | g.765207C>G | CA407963573 | SLC52A3 | c.567+1G>C (n.567+1G>C) n.618+1G>C | |
20 | g.765207C>T | CA407963572 | SLC52A3 | c.567+1G>A (n.567+1G>A) n.618+1G>A | |
20 | g.765208C>A | CA407963575 | SLC52A3 | c.567G>T (p.Gln189His) n.618G>T | |
20 | g.765208C>G | CA407963576 | SLC52A3 | c.567G>C (p.Gln189His) n.618G>C | |
20 | g.765208C>T | CA509542028 | SLC52A3 | c.567G>A (p.Gln189=) n.618G>A | gnomAD v4 COSMIC COSMIC |
20 | g.765209T>A | CA407963577 | SLC52A3 | c.566A>T (p.Gln189Leu) n.617A>T | COSMIC COSMIC |
20 | g.765209T>C | CA407963578 | SLC52A3 | c.566A>G (p.Gln189Arg) n.617A>G | |
20 | g.765209T>G | CA407963579 | SLC52A3 | c.566A>C (p.Gln189Pro) n.617A>C | |
20 | g.765210G>A | CA407963580 | SLC52A3 | c.565C>T (p.Gln189Ter) n.616C>T | gnomAD v4 |
20 | g.765210G>C | CA407963581 | SLC52A3 | c.565C>G (p.Gln189Glu) n.616C>G | |
20 | g.765210G>T | CA407963582 | SLC52A3 | c.565C>A (p.Gln189Lys) n.616C>A | |
20 | g.765211T>A | CA509542035 | SLC52A3 | c.564A>T (p.Ala188=) n.615A>T | |
20 | g.765211T>C | CA509542036 | SLC52A3 | c.564A>G (p.Ala188=) n.615A>G | |
20 | g.765211T>G | CA9724751 | SLC52A3 | c.564A>C (p.Ala188=) n.615A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.765211T= | CA2345350040 | SLC52A3 | c.564A= (p.Ala188=) n.615A= | |
20 | g.765212G>A | CA407963583 | SLC52A3 | c.563C>T (p.Ala188Val) n.614C>T | dbSNP gnomAD v2 gnomAD v4 |
20 | g.765212G>C | CA407963584 | SLC52A3 | c.563C>G (p.Ala188Gly) n.614C>G | |
20 | g.765212G= | CA2345350041 | SLC52A3 | c.563C= (p.Ala188=) n.614C= | |
20 | g.765212G>T | CA407963585 | SLC52A3 | c.563C>A (p.Ala188Glu) n.614C>A | |
20 | g.765213C>A | CA9724752 | SLC52A3 | c.562G>T (p.Ala188Ser) n.613G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.765213C= | CA2345350042 | SLC52A3 | c.562G= (p.Ala188=) n.613G= | |
20 | g.765213C>G | CA407963586 | SLC52A3 | c.562G>C (p.Ala188Pro) n.613G>C | |
20 | g.765213C>T | CA9724753 | SLC52A3 | c.562G>A (p.Ala188Thr) n.613G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.765214G>A | CA9724754 | SLC52A3 | c.561C>T (p.Ile187=) n.612C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.765214G>C | CA407963587 | SLC52A3 | c.561C>G (p.Ile187Met) n.612C>G | |
20 | g.765214G= | CA2345350043 | SLC52A3 | c.561C= (p.Ile187=) n.612C= | |
20 | g.765214G>T | CA509542043 | SLC52A3 | c.561C>A (p.Ile187=) n.612C>A | |
20 | g.765215A>C | CA407963588 | SLC52A3 | c.560T>G (p.Ile187Ser) n.611T>G | |
20 | g.765215A>G | CA407963589 | SLC52A3 | c.560T>C (p.Ile187Thr) n.611T>C | |
20 | g.765215A>T | CA407963590 | SLC52A3 | c.560T>A (p.Ile187Asn) n.611T>A | gnomAD v4 |
20 | g.765216T>A | CA407963591 | SLC52A3 | c.559A>T (p.Ile187Phe) n.610A>T | |
20 | g.765216T>C | CA310678806 | SLC52A3 | c.559A>G (p.Ile187Val) n.610A>G | dbSNP gnomAD v3 gnomAD v4 |
20 | g.765216T>G | CA407963592 | SLC52A3 | c.559A>C (p.Ile187Leu) n.610A>C | |
20 | g.765216T= | CA2345350044 | SLC52A3 | c.559A= (p.Ile187=) n.610A= | |
20 | g.765217G>A | CA509542584 | SLC52A3 | c.558C>T (p.Asp186=) n.609C>T | ClinVar dbSNP gnomAD v4 |
20 | g.765217G>C | CA407963594 | SLC52A3 | c.558C>G (p.Asp186Glu) n.609C>G | |
20 | g.765217G= | CA2345350045 | SLC52A3 | c.558C= (p.Asp186=) n.609C= | |
20 | g.765217G>T | CA407963593 | SLC52A3 | c.558C>A (p.Asp186Glu) n.609C>A | gnomAD v4 |
20 | g.765218T>A | CA407963595 | SLC52A3 | c.557A>T (p.Asp186Val) n.608A>T | |
20 | g.765218T>C | CA407963596 | SLC52A3 | c.557A>G (p.Asp186Gly) n.608A>G | gnomAD v4 |
20 | g.765218T>G | CA407963597 | SLC52A3 | c.557A>C (p.Asp186Ala) n.608A>C | |
20 | g.765219C>A | CA407963598 | SLC52A3 | c.556G>T (p.Asp186Tyr) n.607G>T | |
20 | g.765219C>G | CA407963599 | SLC52A3 | c.556G>C (p.Asp186His) n.607G>C | gnomAD v4 |
20 | g.765219C>T | CA407963600 | SLC52A3 | c.556G>A (p.Asp186Asn) n.607G>A | |
20 | g.765220A= | CA2345350046 | SLC52A3 | c.555T= (p.Thr185=) n.606T= | |
20 | g.765220A>C | CA509542589 | SLC52A3 | c.555T>G (p.Thr185=) n.606T>G | dbSNP gnomAD v4 |
20 | g.765220A>G | CA509542593 | SLC52A3 | c.555T>C (p.Thr185=) n.606T>C | |
20 | g.765220A>T | CA509542594 | SLC52A3 | c.555T>A (p.Thr185=) n.606T>A | |
20 | g.765221G>A | CA407963601 | SLC52A3 | c.554C>T (p.Thr185Ile) n.605C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.765221G>C | CA407963603 | SLC52A3 | c.554C>G (p.Thr185Ser) n.605C>G | gnomAD v4 |
20 | g.765221G= | CA2345350047 | SLC52A3 | c.554C= (p.Thr185=) n.605C= | |
20 | g.765221G>T | CA407963602 | SLC52A3 | c.554C>A (p.Thr185Asn) n.605C>A | ClinVar dbSNP |
20 | g.765222T>A | CA407963604 | SLC52A3 | c.553A>T (p.Thr185Ser) n.604A>T | |
20 | g.765222T>C | CA407963605 | SLC52A3 | c.553A>G (p.Thr185Ala) n.604A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.765222T>G | CA407963606 | SLC52A3 | c.553A>C (p.Thr185Pro) n.604A>C | dbSNP |
20 | g.765222T= | CA2345350048 | SLC52A3 | c.553A= (p.Thr185=) n.604A= | |
20 | g.765223C>A | CA407963607 | SLC52A3 | c.552G>T (p.Glu184Asp) n.603G>T | gnomAD v4 |
20 | g.765223C>G | CA407963608 | SLC52A3 | c.552G>C (p.Glu184Asp) n.603G>C | |
20 | g.765223C>T | CA509542597 | SLC52A3 | c.552G>A (p.Glu184=) n.603G>A | gnomAD v4 |
20 | g.765224T>A | CA407963609 | SLC52A3 | c.551A>T (p.Glu184Val) n.602A>T | |
20 | g.765224T>C | CA310678811 | SLC52A3 | c.551A>G (p.Glu184Gly) n.602A>G | dbSNP |
20 | g.765224T>G | CA407963610 | SLC52A3 | c.551A>C (p.Glu184Ala) n.602A>C | |
20 | g.765224T= | CA2345350049 | SLC52A3 | c.551A= (p.Glu184=) n.602A= | |
20 | g.765225C>A | CA310678815 | SLC52A3 | c.550G>T (p.Glu184Ter) n.601G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.765225C= | CA2345350050 | SLC52A3 | c.550G= (p.Glu184=) n.601G= | |
20 | g.765225C>G | CA407963611 | SLC52A3 | c.550G>C (p.Glu184Gln) n.601G>C | |
20 | g.765225C>T | CA407963612 | SLC52A3 | c.550G>A (p.Glu184Lys) n.601G>A | |
20 | g.765226C>A | CA407963613 | SLC52A3 | c.549G>T (p.Arg183Ser) n.600G>T | |
20 | g.765226C= | CA2345350051 | SLC52A3 | c.549G= (p.Arg183=) n.600G= | |
20 | g.765226C>G | CA407963614 | SLC52A3 | c.549G>C (p.Arg183Ser) n.600G>C | |
20 | g.765226C>T | CA509542601 | SLC52A3 | c.549G>A (p.Arg183=) n.600G>A | dbSNP |
20 | g.765227C>A | CA407963615 | SLC52A3 | c.548G>T (p.Arg183Met) n.599G>T | |
20 | g.765227C= | CA2345350052 | SLC52A3 | c.548G= (p.Arg183=) n.599G= | |
20 | g.765227C>G | CA407963616 | SLC52A3 | c.548G>C (p.Arg183Thr) n.599G>C | |
20 | g.765227C>T | CA310678826 | SLC52A3 | c.548G>A (p.Arg183Lys) n.599G>A | dbSNP gnomAD v2 gnomAD v4 |
20 | g.765228T>A | CA407963617 | SLC52A3 | c.547A>T (p.Arg183Trp) n.598A>T | |
20 | g.765228T>C | CA407963618 | SLC52A3 | c.547A>G (p.Arg183Gly) n.598A>G | |
20 | g.765228T>G | CA509542602 | SLC52A3 | c.547A>C (p.Arg183=) n.598A>C | |
20 | g.765229C>A | CA509542605 | SLC52A3 | c.546G>T (p.Thr182=) n.597G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.765229C= | CA2345350053 | SLC52A3 | c.546G= (p.Thr182=) n.597G= | |
20 | g.765229C>G | CA509542606 | SLC52A3 | c.546G>C (p.Thr182=) n.597G>C | |
20 | g.765229C>T | CA9724755 | SLC52A3 | c.546G>A (p.Thr182=) n.597G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
20 | g.765230G>A | CA9724756 | SLC52A3 | c.545C>T (p.Thr182Met) n.596C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.765230G>C | CA407963619 | SLC52A3 | c.545C>G (p.Thr182Arg) n.596C>G | |
20 | g.765230G= | CA2345350054 | SLC52A3 | c.545C= (p.Thr182=) n.596C= | |
20 | g.765230G>T | CA407963620 | SLC52A3 | c.545C>A (p.Thr182Lys) n.596C>A | gnomAD v4 |
20 | g.765231T>A | CA407963621 | SLC52A3 | c.544A>T (p.Thr182Ser) n.595A>T | |
20 | g.765231T>C | CA407963622 | SLC52A3 | c.544A>G (p.Thr182Ala) n.595A>G | gnomAD v4 |
20 | g.765231T>G | CA407963623 | SLC52A3 | c.544A>C (p.Thr182Pro) n.595A>C | |
20 | g.765232G>A | CA509542608 | SLC52A3 | c.543C>T (p.Pro181=) n.594C>T | |
20 | g.765232G>C | CA310678854 | SLC52A3 | c.543C>G (p.Pro181=) n.594C>G | dbSNP gnomAD v4 |
20 | g.765232G= | CA2345350055 | SLC52A3 | c.543C= (p.Pro181=) n.594C= | |
20 | g.765232G>T | CA509542607 | SLC52A3 | c.543C>A (p.Pro181=) n.594C>A | |
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 |