Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.12649957T>A | CA505770889 | MAN2B1 | c.2223A>T (p.Gly741=) c.2220A>T (p.Gly740=) n.2813A>T c.2226A>T (p.Gly742=) c.1122A>T (p.Gly374=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12649957T>C | CA505770885 | MAN2B1 | c.2223A>G (p.Gly741=) c.2220A>G (p.Gly740=) n.2813A>G c.2226A>G (p.Gly742=) c.1122A>G (p.Gly374=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12649957T>G | CA505770887 | MAN2B1 | c.2223A>C (p.Gly741=) c.2220A>C (p.Gly740=) n.2813A>C c.2226A>C (p.Gly742=) c.1122A>C (p.Gly374=) | |
19 | g.12649957T= | CA2323500016 | MAN2B1 | c.2223A= (p.Gly741=) c.2220A= (p.Gly740=) n.2813A= c.2226A= (p.Gly742=) c.1122A= (p.Gly374=) | |
19 | g.12649958C>A | CA404242724 | MAN2B1 | c.2222G>T (p.Gly741Val) c.2219G>T (p.Gly740Val) n.2812G>T c.2225G>T (p.Gly742Val) c.1121G>T (p.Gly374Val) | |
19 | g.12649958C= | CA2323500017 | MAN2B1 | c.2222G= (p.Gly741=) c.2219G= (p.Gly740=) n.2812G= c.2225G= (p.Gly742=) c.1121G= (p.Gly374=) | |
19 | g.12649958C>G | CA404242726 | MAN2B1 | c.2222G>C (p.Gly741Ala) c.2219G>C (p.Gly740Ala) n.2812G>C c.2225G>C (p.Gly742Ala) c.1121G>C (p.Gly374Ala) | |
19 | g.12649958C>T | CA404242728 | MAN2B1 | c.2222G>A (p.Gly741Glu) c.2219G>A (p.Gly740Glu) n.2812G>A c.2225G>A (p.Gly742Glu) c.1121G>A (p.Gly374Glu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12649960del | CA2695198133 | MAN2B1 | c.2222del (p.Gly741AspfsTer25) c.2219del (p.Gly740AspfsTer25) n.2812del c.2225del (p.Gly742AspfsTer25) c.1121del (p.Gly374AspfsTer25) | ClinVar |
19 | g.12649959C>A | CA404242735 | MAN2B1 | c.2221G>T (p.Gly741Ter) c.2218G>T (p.Gly740Ter) n.2811G>T c.2224G>T (p.Gly742Ter) c.1120G>T (p.Gly374Ter) | |
19 | g.12649959C= | CA2323500018 | MAN2B1 | c.2221G= (p.Gly741=) c.2218G= (p.Gly740=) n.2811G= c.2224G= (p.Gly742=) c.1120G= (p.Gly374=) | |
19 | g.12649959C>G | CA404242732 | MAN2B1 | c.2221G>C (p.Gly741Arg) c.2218G>C (p.Gly740Arg) n.2811G>C c.2224G>C (p.Gly742Arg) c.1120G>C (p.Gly374Arg) | |
19 | g.12649959C>T | CA9226157 | MAN2B1 | c.2221G>A (p.Gly741Arg) c.2218G>A (p.Gly740Arg) n.2811G>A c.2224G>A (p.Gly742Arg) c.1120G>A (p.Gly374Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649960C>A | CA404242737 | MAN2B1 | c.2220G>T (p.Lys740Asn) c.2217G>T (p.Lys739Asn) n.2810G>T c.2223G>T (p.Lys741Asn) c.1119G>T (p.Lys373Asn) | |
19 | g.12649960C= | CA2323500019 | MAN2B1 | c.2220G= (p.Lys740=) c.2217G= (p.Lys739=) n.2810G= c.2223G= (p.Lys741=) c.1119G= (p.Lys373=) | |
19 | g.12649960C>G | CA404242738 | MAN2B1 | c.2220G>C (p.Lys740Asn) c.2217G>C (p.Lys739Asn) n.2810G>C c.2223G>C (p.Lys741Asn) c.1119G>C (p.Lys373Asn) | gnomAD v4 |
19 | g.12649960C>T | CA505770894 | MAN2B1 | c.2220G>A (p.Lys740=) c.2217G>A (p.Lys739=) n.2810G>A c.2223G>A (p.Lys741=) c.1119G>A (p.Lys373=) | ClinVar dbSNP gnomAD v4 |
19 | g.12649961T>A | CA404242742 | MAN2B1 | c.2219A>T (p.Lys740Met) c.2216A>T (p.Lys739Met) n.2809A>T c.2222A>T (p.Lys741Met) c.1118A>T (p.Lys373Met) | |
19 | g.12649961T>C | CA404242745 | MAN2B1 | c.2219A>G (p.Lys740Arg) c.2216A>G (p.Lys739Arg) n.2809A>G c.2222A>G (p.Lys741Arg) c.1118A>G (p.Lys373Arg) | |
19 | g.12649961T>G | CA404242747 | MAN2B1 | c.2219A>C (p.Lys740Thr) c.2216A>C (p.Lys739Thr) n.2809A>C c.2222A>C (p.Lys741Thr) c.1118A>C (p.Lys373Thr) | |
19 | g.12649963del | CA2695228313 | MAN2B1 | c.2219del (p.Lys740ArgfsTer26) c.2216del (p.Lys739ArgfsTer26) n.2809del c.2222del (p.Lys741ArgfsTer26) c.1118del (p.Lys373ArgfsTer26) | |
19 | g.12649962T>A | CA404242748 | MAN2B1 | c.2218A>T (p.Lys740Ter) c.2215A>T (p.Lys739Ter) n.2808A>T c.2221A>T (p.Lys741Ter) c.1117A>T (p.Lys373Ter) | |
19 | g.12649962T>C | CA404242752 | MAN2B1 | c.2218A>G (p.Lys740Glu) c.2215A>G (p.Lys739Glu) n.2808A>G c.2221A>G (p.Lys741Glu) c.1117A>G (p.Lys373Glu) | |
19 | g.12649962T>G | CA404242754 | MAN2B1 | c.2218A>C (p.Lys740Gln) c.2215A>C (p.Lys739Gln) n.2808A>C c.2221A>C (p.Lys741Gln) c.1117A>C (p.Lys373Gln) | |
19 | g.12649963T>A | CA505770899 | MAN2B1 | c.2217A>T (p.Thr739=) c.2214A>T (p.Thr738=) n.2807A>T c.2220A>T (p.Thr740=) c.1116A>T (p.Thr372=) | |
19 | g.12649963T>C | CA505770901 | MAN2B1 | c.2217A>G (p.Thr739=) c.2214A>G (p.Thr738=) n.2807A>G c.2220A>G (p.Thr740=) c.1116A>G (p.Thr372=) | gnomAD v4 |
19 | g.12649963T>G | CA505770903 | MAN2B1 | c.2217A>C (p.Thr739=) c.2214A>C (p.Thr738=) n.2807A>C c.2220A>C (p.Thr740=) c.1116A>C (p.Thr372=) | |
19 | g.12649964G>A | CA404242756 | MAN2B1 | c.2216C>T (p.Thr739Ile) c.2213C>T (p.Thr738Ile) n.2806C>T c.2219C>T (p.Thr740Ile) c.1115C>T (p.Thr372Ile) | |
19 | g.12649964G>C | CA404242757 | MAN2B1 | c.2216C>G (p.Thr739Arg) c.2213C>G (p.Thr738Arg) n.2806C>G c.2219C>G (p.Thr740Arg) c.1115C>G (p.Thr372Arg) | |
19 | g.12649964G>T | CA404242759 | MAN2B1 | c.2216C>A (p.Thr739Lys) c.2213C>A (p.Thr738Lys) n.2806C>A c.2219C>A (p.Thr740Lys) c.1115C>A (p.Thr372Lys) | gnomAD v4 |
19 | g.12649965T>A | CA404242761 | MAN2B1 | c.2215A>T (p.Thr739Ser) c.2212A>T (p.Thr738Ser) n.2805A>T c.2218A>T (p.Thr740Ser) c.1114A>T (p.Thr372Ser) | |
19 | g.12649965T>C | CA404242762 | MAN2B1 | c.2215A>G (p.Thr739Ala) c.2212A>G (p.Thr738Ala) n.2805A>G c.2218A>G (p.Thr740Ala) c.1114A>G (p.Thr372Ala) | |
19 | g.12649965T>G | CA404242764 | MAN2B1 | c.2215A>C (p.Thr739Pro) c.2212A>C (p.Thr738Pro) n.2805A>C c.2218A>C (p.Thr740Pro) c.1114A>C (p.Thr372Pro) | |
19 | g.12649966C>A | CA404242765 | MAN2B1 | c.2214G>T (p.Glu738Asp) c.2211G>T (p.Glu737Asp) n.2804G>T c.2217G>T (p.Glu739Asp) c.1113G>T (p.Glu371Asp) | COSMIC |
19 | g.12649966C= | CA2323500020 | MAN2B1 | c.2214G= (p.Glu738=) c.2211G= (p.Glu737=) n.2804G= c.2217G= (p.Glu739=) c.1113G= (p.Glu371=) | |
19 | g.12649966C>G | CA404242766 | MAN2B1 | c.2214G>C (p.Glu738Asp) c.2211G>C (p.Glu737Asp) n.2804G>C c.2217G>C (p.Glu739Asp) c.1113G>C (p.Glu371Asp) | |
19 | g.12649966C>T | CA9226158 | MAN2B1 | c.2214G>A (p.Glu738=) c.2211G>A (p.Glu737=) n.2804G>A c.2217G>A (p.Glu739=) c.1113G>A (p.Glu371=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12649967T>A | CA404242767 | MAN2B1 | c.2213A>T (p.Glu738Val) c.2210A>T (p.Glu737Val) n.2803A>T c.2216A>T (p.Glu739Val) c.1112A>T (p.Glu371Val) | |
19 | g.12649967T>C | CA404242769 | MAN2B1 | c.2213A>G (p.Glu738Gly) c.2210A>G (p.Glu737Gly) n.2803A>G c.2216A>G (p.Glu739Gly) c.1112A>G (p.Glu371Gly) | |
19 | g.12649967T>G | CA404242772 | MAN2B1 | c.2213A>C (p.Glu738Ala) c.2210A>C (p.Glu737Ala) n.2803A>C c.2216A>C (p.Glu739Ala) c.1112A>C (p.Glu371Ala) | |
19 | g.12649967_12649968delinsTC | CA2323500021 | MAN2B1 | c.2212_2213delinsGA (p.Glu738=) c.2209_2210delinsGA (p.Glu737=) n.2802_2803delinsGA c.2215_2216delinsGA (p.Glu739=) c.1111_1112delinsGA (p.Glu371=) | |
19 | g.12649968C>A | CA404242774 | MAN2B1 | c.2212G>T (p.Glu738Ter) c.2209G>T (p.Glu737Ter) n.2802G>T c.2215G>T (p.Glu739Ter) c.1111G>T (p.Glu371Ter) | |
19 | g.12649968C>G | CA404242775 | MAN2B1 | c.2212G>C (p.Glu738Gln) c.2209G>C (p.Glu737Gln) n.2802G>C c.2215G>C (p.Glu739Gln) c.1111G>C (p.Glu371Gln) | gnomAD v4 |
19 | g.12649968C>T | CA404242777 | MAN2B1 | c.2212G>A (p.Glu738Lys) c.2209G>A (p.Glu737Lys) n.2802G>A c.2215G>A (p.Glu739Lys) c.1111G>A (p.Glu371Lys) | |
19 | g.12649969del | CA658799153 | MAN2B1 | c.2212del (p.Glu738ArgfsTer28) c.2209del (p.Glu737ArgfsTer28) n.2802del c.2215del (p.Glu739ArgfsTer28) c.1111del (p.Glu371ArgfsTer28) | ClinVar dbSNP |
19 | g.12649969C>A | CA505770912 | MAN2B1 | c.2211G>T (p.Leu737=) c.2208G>T (p.Leu736=) n.2801G>T c.2214G>T (p.Leu738=) c.1110G>T (p.Leu370=) | |
19 | g.12649969C>G | CA505770914 | MAN2B1 | c.2211G>C (p.Leu737=) c.2208G>C (p.Leu736=) n.2801G>C c.2214G>C (p.Leu738=) c.1110G>C (p.Leu370=) | |
19 | g.12649969C>T | CA505770915 | MAN2B1 | c.2211G>A (p.Leu737=) c.2208G>A (p.Leu736=) n.2801G>A c.2214G>A (p.Leu738=) c.1110G>A (p.Leu370=) | |
19 | g.12649970A>C | CA404242778 | MAN2B1 | c.2210T>G (p.Leu737Arg) c.2207T>G (p.Leu736Arg) n.2800T>G c.2213T>G (p.Leu738Arg) c.1109T>G (p.Leu370Arg) | |
19 | g.12649970A>G | CA404242779 | MAN2B1 | c.2210T>C (p.Leu737Pro) c.2207T>C (p.Leu736Pro) n.2800T>C c.2213T>C (p.Leu738Pro) c.1109T>C (p.Leu370Pro) | |
19 | g.12649970A>T | CA404242781 | MAN2B1 | c.2210T>A (p.Leu737Gln) c.2207T>A (p.Leu736Gln) n.2800T>A c.2213T>A (p.Leu738Gln) c.1109T>A (p.Leu370Gln) | gnomAD v4 |
19 | g.12649971G>A | CA505770918 | MAN2B1 | c.2209C>T (p.Leu737=) c.2206C>T (p.Leu736=) n.2799C>T c.2212C>T (p.Leu738=) c.1108C>T (p.Leu370=) | ClinVar |
19 | g.12649971G>C | CA404242783 | MAN2B1 | c.2209C>G (p.Leu737Val) c.2206C>G (p.Leu736Val) n.2799C>G c.2212C>G (p.Leu738Val) c.1108C>G (p.Leu370Val) | |
19 | g.12649971G>T | CA404242785 | MAN2B1 | c.2209C>A (p.Leu737Met) c.2206C>A (p.Leu736Met) n.2799C>A c.2212C>A (p.Leu738Met) c.1108C>A (p.Leu370Met) | |
19 | g.12649972C>A | CA505770922 | MAN2B1 | c.2208G>T (p.Pro736=) c.2205G>T (p.Pro735=) n.2798G>T c.2211G>T (p.Pro737=) c.1107G>T (p.Pro369=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.12649972C= | CA2323500022 | MAN2B1 | c.2208G= (p.Pro736=) c.2205G= (p.Pro735=) n.2798G= c.2211G= (p.Pro737=) c.1107G= (p.Pro369=) | |
19 | g.12649972C>G | CA505770923 | MAN2B1 | c.2208G>C (p.Pro736=) c.2205G>C (p.Pro735=) n.2798G>C c.2211G>C (p.Pro737=) c.1107G>C (p.Pro369=) | |
19 | g.12649972C>T | CA9226159 | MAN2B1 | c.2208G>A (p.Pro736=) c.2205G>A (p.Pro735=) n.2798G>A c.2211G>A (p.Pro737=) c.1107G>A (p.Pro369=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649973G>A | CA404242790 | MAN2B1 | c.2207C>T (p.Pro736Leu) c.2204C>T (p.Pro735Leu) n.2797C>T c.2210C>T (p.Pro737Leu) c.1106C>T (p.Pro369Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649973G>C | CA404242786 | MAN2B1 | c.2207C>G (p.Pro736Arg) c.2204C>G (p.Pro735Arg) n.2797C>G c.2210C>G (p.Pro737Arg) c.1106C>G (p.Pro369Arg) | dbSNP gnomAD v4 |
19 | g.12649973G= | CA2323500023 | MAN2B1 | c.2207C= (p.Pro736=) c.2204C= (p.Pro735=) n.2797C= c.2210C= (p.Pro737=) c.1106C= (p.Pro369=) | |
19 | g.12649973G>T | CA404242788 | MAN2B1 | c.2207C>A (p.Pro736Gln) c.2204C>A (p.Pro735Gln) n.2797C>A c.2210C>A (p.Pro737Gln) c.1106C>A (p.Pro369Gln) | |
19 | g.12649974G>A | CA404242792 | MAN2B1 | c.2206C>T (p.Pro736Ser) c.2203C>T (p.Pro735Ser) n.2796C>T c.2209C>T (p.Pro737Ser) c.1105C>T (p.Pro369Ser) | gnomAD v4 |
19 | g.12649974G>C | CA404242793 | MAN2B1 | c.2206C>G (p.Pro736Ala) c.2203C>G (p.Pro735Ala) n.2796C>G c.2209C>G (p.Pro737Ala) c.1105C>G (p.Pro369Ala) | |
19 | g.12649974G>T | CA404242795 | MAN2B1 | c.2206C>A (p.Pro736Thr) c.2203C>A (p.Pro735Thr) n.2796C>A c.2209C>A (p.Pro737Thr) c.1105C>A (p.Pro369Thr) | ClinVar gnomAD v4 |
19 | g.12649975T>A | CA505770929 | MAN2B1 | c.2205A>T (p.Thr735=) c.2202A>T (p.Thr734=) n.2795A>T c.2208A>T (p.Thr736=) c.1104A>T (p.Thr368=) | |
19 | g.12649975T>C | CA505770930 | MAN2B1 | c.2205A>G (p.Thr735=) c.2202A>G (p.Thr734=) n.2795A>G c.2208A>G (p.Thr736=) c.1104A>G (p.Thr368=) | |
19 | g.12649975T>G | CA505770931 | MAN2B1 | c.2205A>C (p.Thr735=) c.2202A>C (p.Thr734=) n.2795A>C c.2208A>C (p.Thr736=) c.1104A>C (p.Thr368=) | |
19 | g.12649976G>A | CA404242797 | MAN2B1 | c.2204C>T (p.Thr735Ile) c.2201C>T (p.Thr734Ile) n.2794C>T c.2207C>T (p.Thr736Ile) c.1103C>T (p.Thr368Ile) | gnomAD v4 |
19 | g.12649976G>C | CA404242799 | MAN2B1 | c.2204C>G (p.Thr735Arg) c.2201C>G (p.Thr734Arg) n.2794C>G c.2207C>G (p.Thr736Arg) c.1103C>G (p.Thr368Arg) | |
19 | g.12649976G>T | CA404242800 | MAN2B1 | c.2204C>A (p.Thr735Lys) c.2201C>A (p.Thr734Lys) n.2794C>A c.2207C>A (p.Thr736Lys) c.1103C>A (p.Thr368Lys) | |
19 | g.12649977T>A | CA404242801 | MAN2B1 | c.2203A>T (p.Thr735Ser) c.2200A>T (p.Thr734Ser) n.2793A>T c.2206A>T (p.Thr736Ser) c.1102A>T (p.Thr368Ser) | |
19 | g.12649977T>C | CA404242803 | MAN2B1 | c.2203A>G (p.Thr735Ala) c.2200A>G (p.Thr734Ala) n.2793A>G c.2206A>G (p.Thr736Ala) c.1102A>G (p.Thr368Ala) | |
19 | g.12649977T>G | CA404242805 | MAN2B1 | c.2203A>C (p.Thr735Pro) c.2200A>C (p.Thr734Pro) n.2793A>C c.2206A>C (p.Thr736Pro) c.1102A>C (p.Thr368Pro) | |
19 | g.12649978G>A | CA505770938 | MAN2B1 | c.2202C>T (p.Asp734=) c.2199C>T (p.Asp733=) n.2792C>T c.2205C>T (p.Asp735=) c.1101C>T (p.Asp367=) | ClinVar |
19 | g.12649978G>C | CA404242807 | MAN2B1 | c.2202C>G (p.Asp734Glu) c.2199C>G (p.Asp733Glu) n.2792C>G c.2205C>G (p.Asp735Glu) c.1101C>G (p.Asp367Glu) | |
19 | g.12649978G>T | CA404242808 | MAN2B1 | c.2202C>A (p.Asp734Glu) c.2199C>A (p.Asp733Glu) n.2792C>A c.2205C>A (p.Asp735Glu) c.1101C>A (p.Asp367Glu) | |
19 | g.12649979T>A | CA404242813 | MAN2B1 | c.2201A>T (p.Asp734Val) c.2198A>T (p.Asp733Val) n.2791A>T c.2204A>T (p.Asp735Val) c.1100A>T (p.Asp367Val) | |
19 | g.12649979T>C | CA404242812 | MAN2B1 | c.2201A>G (p.Asp734Gly) c.2198A>G (p.Asp733Gly) n.2791A>G c.2204A>G (p.Asp735Gly) c.1100A>G (p.Asp367Gly) | |
19 | g.12649979T>G | CA404242810 | MAN2B1 | c.2201A>C (p.Asp734Ala) c.2198A>C (p.Asp733Ala) n.2791A>C c.2204A>C (p.Asp735Ala) c.1100A>C (p.Asp367Ala) | |
19 | g.12649980C>A | CA404242815 | MAN2B1 | c.2200G>T (p.Asp734Tyr) c.2197G>T (p.Asp733Tyr) n.2790G>T c.2203G>T (p.Asp735Tyr) c.1099G>T (p.Asp367Tyr) | |
19 | g.12649980C>G | CA404242816 | MAN2B1 | c.2200G>C (p.Asp734His) c.2197G>C (p.Asp733His) n.2790G>C c.2203G>C (p.Asp735His) c.1099G>C (p.Asp367His) | |
19 | g.12649980C>T | CA404242818 | MAN2B1 | c.2200G>A (p.Asp734Asn) c.2197G>A (p.Asp733Asn) n.2790G>A c.2203G>A (p.Asp735Asn) c.1099G>A (p.Asp367Asn) | |
19 | g.12649981A>C | CA404242824 | MAN2B1 | c.2199T>G (p.Phe733Leu) c.2196T>G (p.Phe732Leu) n.2789T>G c.2202T>G (p.Phe734Leu) c.1098T>G (p.Phe366Leu) | |
19 | g.12649981A>G | CA505770942 | MAN2B1 | c.2199T>C (p.Phe733=) c.2196T>C (p.Phe732=) n.2789T>C c.2202T>C (p.Phe734=) c.1098T>C (p.Phe366=) | |
19 | g.12649981A>T | CA404242825 | MAN2B1 | c.2199T>A (p.Phe733Leu) c.2196T>A (p.Phe732Leu) n.2789T>A c.2202T>A (p.Phe734Leu) c.1098T>A (p.Phe366Leu) | |
19 | g.12649984del | CA2580096687 | MAN2B1 | c.2199del (p.Phe733LeufsTer?) c.2196del (p.Phe732LeufsTer?) n.2789del c.2202del (p.Phe734LeufsTer?) c.1098del (p.Phe366LeufsTer?) | ClinVar |
19 | g.12649982A>C | CA404242830 | MAN2B1 | c.2198T>G (p.Phe733Cys) c.2195T>G (p.Phe732Cys) n.2788T>G c.2201T>G (p.Phe734Cys) c.1097T>G (p.Phe366Cys) | |
19 | g.12649982A>G | CA404242829 | MAN2B1 | c.2198T>C (p.Phe733Ser) c.2195T>C (p.Phe732Ser) n.2788T>C c.2201T>C (p.Phe734Ser) c.1097T>C (p.Phe366Ser) | |
19 | g.12649982A>T | CA404242827 | MAN2B1 | c.2198T>A (p.Phe733Tyr) c.2195T>A (p.Phe732Tyr) n.2788T>A c.2201T>A (p.Phe734Tyr) c.1097T>A (p.Phe366Tyr) | |
19 | g.12649983A>C | CA404242832 | MAN2B1 | c.2197T>G (p.Phe733Val) c.2194T>G (p.Phe732Val) n.2787T>G c.2200T>G (p.Phe734Val) c.1096T>G (p.Phe366Val) | |
19 | g.12649983A>G | CA404242834 | MAN2B1 | c.2197T>C (p.Phe733Leu) c.2194T>C (p.Phe732Leu) n.2787T>C c.2200T>C (p.Phe734Leu) c.1096T>C (p.Phe366Leu) | |
19 | g.12649983A>T | CA404242835 | MAN2B1 | c.2197T>A (p.Phe733Ile) c.2194T>A (p.Phe732Ile) n.2787T>A c.2200T>A (p.Phe734Ile) c.1096T>A (p.Phe366Ile) | |
19 | g.12649984A>C | CA505770945 | MAN2B1 | c.2196T>G (p.Arg732=) c.2193T>G (p.Arg731=) n.2786T>G c.2199T>G (p.Arg733=) c.1095T>G (p.Arg365=) | |
19 | g.12649984A>G | CA505770947 | MAN2B1 | c.2196T>C (p.Arg732=) c.2193T>C (p.Arg731=) n.2786T>C c.2199T>C (p.Arg733=) c.1095T>C (p.Arg365=) | |
19 | g.12649984A>T | CA505770949 | MAN2B1 | c.2196T>A (p.Arg732=) c.2193T>A (p.Arg731=) n.2786T>A c.2199T>A (p.Arg733=) c.1095T>A (p.Arg365=) | |
19 | g.12649985C>A | CA404242837 | MAN2B1 | c.2195G>T (p.Arg732Leu) c.2192G>T (p.Arg731Leu) n.2785G>T c.2198G>T (p.Arg733Leu) c.1094G>T (p.Arg365Leu) | gnomAD v4 COSMIC |
19 | g.12649985C= | CA2323500024 | MAN2B1 | c.2195G= (p.Arg732=) c.2192G= (p.Arg731=) n.2785G= c.2198G= (p.Arg733=) c.1094G= (p.Arg365=) | |
19 | g.12649985C>G | CA404242838 | MAN2B1 | c.2195G>C (p.Arg732Pro) c.2192G>C (p.Arg731Pro) n.2785G>C c.2198G>C (p.Arg733Pro) c.1094G>C (p.Arg365Pro) | |
19 | g.12649985C>T | CA9226160 | MAN2B1 | c.2195G>A (p.Arg732His) c.2192G>A (p.Arg731His) n.2785G>A c.2198G>A (p.Arg733His) c.1094G>A (p.Arg365His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.12649986G>A | CA9226161 | MAN2B1 | c.2194C>T (p.Arg732Cys) c.2191C>T (p.Arg731Cys) n.2784C>T c.2197C>T (p.Arg733Cys) c.1093C>T (p.Arg365Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649986G>C | CA404242841 | MAN2B1 | c.2194C>G (p.Arg732Gly) c.2191C>G (p.Arg731Gly) n.2784C>G c.2197C>G (p.Arg733Gly) c.1093C>G (p.Arg365Gly) | |
19 | g.12649986G= | CA2323500025 | MAN2B1 | c.2194C= (p.Arg732=) c.2191C= (p.Arg731=) n.2784C= c.2197C= (p.Arg733=) c.1093C= (p.Arg365=) | |
19 | g.12649986G>T | CA404242842 | MAN2B1 | c.2194C>A (p.Arg732Ser) c.2191C>A (p.Arg731Ser) n.2784C>A c.2197C>A (p.Arg733Ser) c.1093C>A (p.Arg365Ser) | COSMIC |
19 | g.12649987G>A | CA505770952 | MAN2B1 | c.2193C>T (p.Ser731=) c.2190C>T (p.Ser730=) n.2783C>T c.2196C>T (p.Ser732=) c.1092C>T (p.Ser364=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.12649987G>C | CA404242846 | MAN2B1 | c.2193C>G (p.Ser731Arg) c.2190C>G (p.Ser730Arg) n.2783C>G c.2196C>G (p.Ser732Arg) c.1092C>G (p.Ser364Arg) | |
19 | g.12649987G= | CA2323500026 | MAN2B1 | c.2193C= (p.Ser731=) c.2190C= (p.Ser730=) n.2783C= c.2196C= (p.Ser732=) c.1092C= (p.Ser364=) | |
19 | g.12649987G>T | CA404242852 | MAN2B1 | c.2193C>A (p.Ser731Arg) c.2190C>A (p.Ser730Arg) n.2783C>A c.2196C>A (p.Ser732Arg) c.1092C>A (p.Ser364Arg) | |
19 | g.12649988C>A | CA404242854 | MAN2B1 | c.2192G>T (p.Ser731Ile) c.2189G>T (p.Ser730Ile) n.2782G>T c.2195G>T (p.Ser732Ile) c.1091G>T (p.Ser364Ile) | |
19 | g.12649988C>G | CA404242861 | MAN2B1 | c.2192G>C (p.Ser731Thr) c.2189G>C (p.Ser730Thr) n.2782G>C c.2195G>C (p.Ser732Thr) c.1091G>C (p.Ser364Thr) | |
19 | g.12649988C>T | CA404242862 | MAN2B1 | c.2192G>A (p.Ser731Asn) c.2189G>A (p.Ser730Asn) n.2782G>A c.2195G>A (p.Ser732Asn) c.1091G>A (p.Ser364Asn) | |
19 | g.12649989T>A | CA404242865 | MAN2B1 | c.2191A>T (p.Ser731Cys) c.2188A>T (p.Ser730Cys) n.2781A>T c.2194A>T (p.Ser732Cys) c.1090A>T (p.Ser364Cys) | |
19 | g.12649989T>C | CA404242867 | MAN2B1 | c.2191A>G (p.Ser731Gly) c.2188A>G (p.Ser730Gly) n.2781A>G c.2194A>G (p.Ser732Gly) c.1090A>G (p.Ser364Gly) | |
19 | g.12649989T>G | CA404242868 | MAN2B1 | c.2191A>C (p.Ser731Arg) c.2188A>C (p.Ser730Arg) n.2781A>C c.2194A>C (p.Ser732Arg) c.1090A>C (p.Ser364Arg) | gnomAD v4 |
19 | g.12649990G>A | CA9226162 | MAN2B1 | c.2190C>T (p.Ile730=) c.2187C>T (p.Ile729=) n.2780C>T c.2193C>T (p.Ile731=) c.1089C>T (p.Ile363=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649990G>C | CA404242870 | MAN2B1 | c.2190C>G (p.Ile730Met) c.2187C>G (p.Ile729Met) n.2780C>G c.2193C>G (p.Ile731Met) c.1089C>G (p.Ile363Met) | |
19 | g.12649990G= | CA2323500027 | MAN2B1 | c.2190C= (p.Ile730=) c.2187C= (p.Ile729=) n.2780C= c.2193C= (p.Ile731=) c.1089C= (p.Ile363=) | |
19 | g.12649990G>T | CA505770959 | MAN2B1 | c.2190C>A (p.Ile730=) c.2187C>A (p.Ile729=) n.2780C>A c.2193C>A (p.Ile731=) c.1089C>A (p.Ile363=) | |
19 | g.12649991A>C | CA404242873 | MAN2B1 | c.2189T>G (p.Ile730Ser) c.2186T>G (p.Ile729Ser) n.2779T>G c.2192T>G (p.Ile731Ser) c.1088T>G (p.Ile363Ser) | |
19 | g.12649991A>G | CA404242877 | MAN2B1 | c.2189T>C (p.Ile730Thr) c.2186T>C (p.Ile729Thr) n.2779T>C c.2192T>C (p.Ile731Thr) c.1088T>C (p.Ile363Thr) | |
19 | g.12649991A>T | CA404242878 | MAN2B1 | c.2189T>A (p.Ile730Asn) c.2186T>A (p.Ile729Asn) n.2779T>A c.2192T>A (p.Ile731Asn) c.1088T>A (p.Ile363Asn) | |
19 | g.12649992T>A | CA404242885 | MAN2B1 | c.2188A>T (p.Ile730Phe) c.2185A>T (p.Ile729Phe) n.2778A>T c.2191A>T (p.Ile731Phe) c.1087A>T (p.Ile363Phe) | |
19 | g.12649992T>C | CA404242881 | MAN2B1 | c.2188A>G (p.Ile730Val) c.2185A>G (p.Ile729Val) n.2778A>G c.2191A>G (p.Ile731Val) c.1087A>G (p.Ile363Val) | |
19 | g.12649992T>G | CA404242883 | MAN2B1 | c.2188A>C (p.Ile730Leu) c.2185A>C (p.Ile729Leu) n.2778A>C c.2191A>C (p.Ile731Leu) c.1087A>C (p.Ile363Leu) | gnomAD v4 |
19 | g.12649993G>A | CA505770967 | MAN2B1 | c.2187C>T (p.Val729=) c.2184C>T (p.Val728=) n.2777C>T c.2190C>T (p.Val730=) c.1086C>T (p.Val362=) | |
19 | g.12649993G>C | CA505770963 | MAN2B1 | c.2187C>G (p.Val729=) c.2184C>G (p.Val728=) n.2777C>G c.2190C>G (p.Val730=) c.1086C>G (p.Val362=) | |
19 | g.12649993G>T | CA505770965 | MAN2B1 | c.2187C>A (p.Val729=) c.2184C>A (p.Val728=) n.2777C>A c.2190C>A (p.Val730=) c.1086C>A (p.Val362=) | |
19 | g.12649994A>C | CA404242887 | MAN2B1 | c.2186T>G (p.Val729Gly) c.2183T>G (p.Val728Gly) n.2776T>G c.2189T>G (p.Val730Gly) c.1085T>G (p.Val362Gly) | |
19 | g.12649994A>G | CA404242890 | MAN2B1 | c.2186T>C (p.Val729Ala) c.2183T>C (p.Val728Ala) n.2776T>C c.2189T>C (p.Val730Ala) c.1085T>C (p.Val362Ala) | |
19 | g.12649994A>T | CA404242892 | MAN2B1 | c.2186T>A (p.Val729Asp) c.2183T>A (p.Val728Asp) n.2776T>A c.2189T>A (p.Val730Asp) c.1085T>A (p.Val362Asp) | |
19 | g.12649995C>A | CA404242896 | MAN2B1 | c.2185G>T (p.Val729Phe) c.2182G>T (p.Val728Phe) n.2775G>T c.2188G>T (p.Val730Phe) c.1084G>T (p.Val362Phe) | |
19 | g.12649995C>G | CA404242898 | MAN2B1 | c.2185G>C (p.Val729Leu) c.2182G>C (p.Val728Leu) n.2775G>C c.2188G>C (p.Val730Leu) c.1084G>C (p.Val362Leu) | |
19 | g.12649995C>T | CA404242900 | MAN2B1 | c.2185G>A (p.Val729Ile) c.2182G>A (p.Val728Ile) n.2775G>A c.2188G>A (p.Val730Ile) c.1084G>A (p.Val362Ile) | gnomAD v4 |
19 | g.12649996C>A | CA404242905 | MAN2B1 | c.2184G>T (p.Glu728Asp) c.2181G>T (p.Glu727Asp) n.2774G>T c.2187G>T (p.Glu729Asp) c.1083G>T (p.Glu361Asp) | |
19 | g.12649996C= | CA2323500028 | MAN2B1 | c.2184G= (p.Glu728=) c.2181G= (p.Glu727=) n.2774G= c.2187G= (p.Glu729=) c.1083G= (p.Glu361=) | |
19 | g.12649996C>G | CA404242902 | MAN2B1 | c.2184G>C (p.Glu728Asp) c.2181G>C (p.Glu727Asp) n.2774G>C c.2187G>C (p.Glu729Asp) c.1083G>C (p.Glu361Asp) | gnomAD v4 |
19 | g.12649996C>T | CA505770974 | MAN2B1 | c.2184G>A (p.Glu728=) c.2181G>A (p.Glu727=) n.2774G>A c.2187G>A (p.Glu729=) c.1083G>A (p.Glu361=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12649997T>A | CA404242907 | MAN2B1 | c.2183A>T (p.Glu728Val) c.2180A>T (p.Glu727Val) n.2773A>T c.2186A>T (p.Glu729Val) c.1082A>T (p.Glu361Val) | |
19 | g.12649997T>C | CA404242909 | MAN2B1 | c.2183A>G (p.Glu728Gly) c.2180A>G (p.Glu727Gly) n.2773A>G c.2186A>G (p.Glu729Gly) c.1082A>G (p.Glu361Gly) | |
19 | g.12649997T>G | CA404242910 | MAN2B1 | c.2183A>C (p.Glu728Ala) c.2180A>C (p.Glu727Ala) n.2773A>C c.2186A>C (p.Glu729Ala) c.1082A>C (p.Glu361Ala) | |
19 | g.12649998C>A | CA404242914 | MAN2B1 | c.2182G>T (p.Glu728Ter) c.2179G>T (p.Glu727Ter) n.2772G>T c.2185G>T (p.Glu729Ter) c.1081G>T (p.Glu361Ter) | |
19 | g.12649998C= | CA2323500029 | MAN2B1 | c.2182G= (p.Glu728=) c.2179G= (p.Glu727=) n.2772G= c.2185G= (p.Glu729=) c.1081G= (p.Glu361=) | |
19 | g.12649998C>G | CA404242916 | MAN2B1 | c.2182G>C (p.Glu728Gln) c.2179G>C (p.Glu727Gln) n.2772G>C c.2185G>C (p.Glu729Gln) c.1081G>C (p.Glu361Gln) | |
19 | g.12649998C>T | CA9226163 | MAN2B1 | c.2182G>A (p.Glu728Lys) c.2179G>A (p.Glu727Lys) n.2772G>A c.2185G>A (p.Glu729Lys) c.1081G>A (p.Glu361Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12649999C>A | CA404242925 | MAN2B1 | c.2181G>T (p.Lys727Asn) c.2178G>T (p.Lys726Asn) n.2771G>T c.2184G>T (p.Lys728Asn) c.1080G>T (p.Lys360Asn) | |
19 | g.12649999C= | CA2323500030 | MAN2B1 | c.2181G= (p.Lys727=) c.2178G= (p.Lys726=) n.2771G= c.2184G= (p.Lys728=) c.1080G= (p.Lys360=) | |
19 | g.12649999C>G | CA305462760 | MAN2B1 | c.2181G>C (p.Lys727Asn) c.2178G>C (p.Lys726Asn) n.2771G>C c.2184G>C (p.Lys728Asn) c.1080G>C (p.Lys360Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.12649999C>T | CA9226164 | MAN2B1 | c.2181G>A (p.Lys727=) c.2178G>A (p.Lys726=) n.2771G>A c.2184G>A (p.Lys728=) c.1080G>A (p.Lys360=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12650000T>A | CA404242927 | MAN2B1 | c.2180A>T (p.Lys727Met) c.2177A>T (p.Lys726Met) n.2770A>T c.2183A>T (p.Lys728Met) c.1079A>T (p.Lys360Met) | |
19 | g.12650000T>C | CA9226165 | MAN2B1 | c.2180A>G (p.Lys727Arg) c.2177A>G (p.Lys726Arg) n.2770A>G c.2183A>G (p.Lys728Arg) c.1079A>G (p.Lys360Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12650000T>G | CA404242933 | MAN2B1 | c.2180A>C (p.Lys727Thr) c.2177A>C (p.Lys726Thr) n.2770A>C c.2183A>C (p.Lys728Thr) c.1079A>C (p.Lys360Thr) | |
19 | g.12650000T= | CA2323500031 | MAN2B1 | c.2180A= (p.Lys727=) c.2177A= (p.Lys726=) n.2770A= c.2183A= (p.Lys728=) c.1079A= (p.Lys360=) | |
19 | g.12650001T>A | CA404242935 | MAN2B1 | c.2179A>T (p.Lys727Ter) c.2176A>T (p.Lys726Ter) n.2769A>T c.2182A>T (p.Lys728Ter) c.1078A>T (p.Lys360Ter) | |
19 | g.12650001T>C | CA404242938 | MAN2B1 | c.2179A>G (p.Lys727Glu) c.2176A>G (p.Lys726Glu) n.2769A>G c.2182A>G (p.Lys728Glu) c.1078A>G (p.Lys360Glu) | |
19 | g.12650001T>G | CA404242940 | MAN2B1 | c.2179A>C (p.Lys727Gln) c.2176A>C (p.Lys726Gln) n.2769A>C c.2182A>C (p.Lys728Gln) c.1078A>C (p.Lys360Gln) | |
19 | g.12650002C>A | CA505770985 | MAN2B1 | c.2178G>T (p.Gly726=) c.2175G>T (p.Gly725=) n.2768G>T c.2181G>T (p.Gly727=) c.1077G>T (p.Gly359=) | |
19 | g.12650002C= | CA2323500032 | MAN2B1 | c.2178G= (p.Gly726=) c.2175G= (p.Gly725=) n.2768G= c.2181G= (p.Gly727=) c.1077G= (p.Gly359=) | |
19 | g.12650002C>G | CA505770986 | MAN2B1 | c.2178G>C (p.Gly726=) c.2175G>C (p.Gly725=) n.2768G>C c.2181G>C (p.Gly727=) c.1077G>C (p.Gly359=) | |
19 | g.12650002C>T | CA505770987 | MAN2B1 | c.2178G>A (p.Gly726=) c.2175G>A (p.Gly725=) n.2768G>A c.2181G>A (p.Gly727=) c.1077G>A (p.Gly359=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.12650003C>A | CA404242941 | MAN2B1 | c.2177G>T (p.Gly726Val) c.2174G>T (p.Gly725Val) n.2767G>T c.2180G>T (p.Gly727Val) c.1076G>T (p.Gly359Val) | |
19 | g.12650003C= | CA2323500033 | MAN2B1 | c.2177G= (p.Gly726=) c.2174G= (p.Gly725=) n.2767G= c.2180G= (p.Gly727=) c.1076G= (p.Gly359=) | |
19 | g.12650003C>G | CA404242942 | MAN2B1 | c.2177G>C (p.Gly726Ala) c.2174G>C (p.Gly725Ala) n.2767G>C c.2180G>C (p.Gly727Ala) c.1076G>C (p.Gly359Ala) | |
19 | g.12650003C>T | CA9226166 | MAN2B1 | c.2177G>A (p.Gly726Glu) c.2174G>A (p.Gly725Glu) n.2767G>A c.2180G>A (p.Gly727Glu) c.1076G>A (p.Gly359Glu) | dbSNP ExAC gnomAD v2 |
19 | g.12650004C>A | CA404242944 | MAN2B1 | c.2176G>T (p.Gly726Trp) c.2173G>T (p.Gly725Trp) n.2766G>T c.2179G>T (p.Gly727Trp) c.1075G>T (p.Gly359Trp) | |
19 | g.12650004C>G | CA404242945 | MAN2B1 | c.2176G>C (p.Gly726Arg) c.2173G>C (p.Gly725Arg) n.2766G>C c.2179G>C (p.Gly727Arg) c.1075G>C (p.Gly359Arg) | |
19 | g.12650004C>T | CA404242947 | MAN2B1 | c.2176G>A (p.Gly726Arg) c.2173G>A (p.Gly725Arg) n.2766G>A c.2179G>A (p.Gly727Arg) c.1075G>A (p.Gly359Arg) | ClinVar |
19 | g.12650005C>A | CA404242950 | MAN2B1 | c.2175G>T (p.Trp725Cys) c.2172G>T (p.Trp724Cys) n.2765G>T c.2178G>T (p.Trp726Cys) c.1074G>T (p.Trp358Cys) | |
19 | g.12650005C= | CA2323500034 | MAN2B1 | c.2175G= (p.Trp725=) c.2172G= (p.Trp724=) n.2765G= c.2178G= (p.Trp726=) c.1074G= (p.Trp358=) | |
19 | g.12650005C>G | CA404242955 | MAN2B1 | c.2175G>C (p.Trp725Cys) c.2172G>C (p.Trp724Cys) n.2765G>C c.2178G>C (p.Trp726Cys) c.1074G>C (p.Trp358Cys) | |
19 | g.12650005C>T | CA404242952 | MAN2B1 | c.2175G>A (p.Trp725Ter) c.2172G>A (p.Trp724Ter) n.2765G>A c.2178G>A (p.Trp726Ter) c.1074G>A (p.Trp358Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.12650006C>A | CA404242957 | MAN2B1 | c.2174G>T (p.Trp725Leu) c.2171G>T (p.Trp724Leu) n.2764G>T c.2177G>T (p.Trp726Leu) c.1073G>T (p.Trp358Leu) | |
19 | g.12650006C= | CA2323500035 | MAN2B1 | c.2174G= (p.Trp725=) c.2171G= (p.Trp724=) n.2764G= c.2177G= (p.Trp726=) c.1073G= (p.Trp358=) | |
19 | g.12650006C>G | CA404242963 | MAN2B1 | c.2174G>C (p.Trp725Ser) c.2171G>C (p.Trp724Ser) n.2764G>C c.2177G>C (p.Trp726Ser) c.1073G>C (p.Trp358Ser) | |
19 | g.12650006C>T | CA404242960 | MAN2B1 | c.2174G>A (p.Trp725Ter) c.2171G>A (p.Trp724Ter) n.2764G>A c.2177G>A (p.Trp726Ter) c.1073G>A (p.Trp358Ter) | ClinVar dbSNP |
19 | g.12650007A>C | CA404242966 | MAN2B1 | c.2173T>G (p.Trp725Gly) c.2170T>G (p.Trp724Gly) n.2763T>G c.2176T>G (p.Trp726Gly) c.1072T>G (p.Trp358Gly) | |
19 | g.12650007A>G | CA404242968 | MAN2B1 | c.2173T>C (p.Trp725Arg) c.2170T>C (p.Trp724Arg) n.2763T>C c.2176T>C (p.Trp726Arg) c.1072T>C (p.Trp358Arg) | |
19 | g.12650007A>T | CA404242969 | MAN2B1 | c.2173T>A (p.Trp725Arg) c.2170T>A (p.Trp724Arg) n.2763T>A c.2176T>A (p.Trp726Arg) c.1072T>A (p.Trp358Arg) | |
19 | g.12650008G>A | CA505770994 | MAN2B1 | c.2172C>T (p.Thr724=) c.2169C>T (p.Thr723=) n.2762C>T c.2175C>T (p.Thr725=) c.1071C>T (p.Thr357=) | gnomAD v4 |
19 | g.12650008G>C | CA505770995 | MAN2B1 | c.2172C>G (p.Thr724=) c.2169C>G (p.Thr723=) n.2762C>G c.2175C>G (p.Thr725=) c.1071C>G (p.Thr357=) | gnomAD v4 |
19 | g.12650008G>T | CA505770996 | MAN2B1 | c.2172C>A (p.Thr724=) c.2169C>A (p.Thr723=) n.2762C>A c.2175C>A (p.Thr725=) c.1071C>A (p.Thr357=) | |
19 | g.12650009G>A | CA9226167 | MAN2B1 | c.2171C>T (p.Thr724Ile) c.2168C>T (p.Thr723Ile) n.2761C>T c.2174C>T (p.Thr725Ile) c.1070C>T (p.Thr357Ile) | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.12650009G>C | CA404242974 | MAN2B1 | c.2171C>G (p.Thr724Ser) c.2168C>G (p.Thr723Ser) n.2761C>G c.2174C>G (p.Thr725Ser) c.1070C>G (p.Thr357Ser) | |
19 | g.12650009G= | CA2323500036 | MAN2B1 | c.2171C= (p.Thr724=) c.2168C= (p.Thr723=) n.2761C= c.2174C= (p.Thr725=) c.1070C= (p.Thr357=) | |
19 | g.12650009G>T | CA404242976 | MAN2B1 | c.2171C>A (p.Thr724Asn) c.2168C>A (p.Thr723Asn) n.2761C>A c.2174C>A (p.Thr725Asn) c.1070C>A (p.Thr357Asn) | |
19 | g.12650010T>A | CA404242979 | MAN2B1 | c.2170A>T (p.Thr724Ser) c.2167A>T (p.Thr723Ser) n.2760A>T c.2173A>T (p.Thr725Ser) c.1069A>T (p.Thr357Ser) | |
19 | g.12650010T>C | CA404242981 | MAN2B1 | c.2170A>G (p.Thr724Ala) c.2167A>G (p.Thr723Ala) n.2760A>G c.2173A>G (p.Thr725Ala) c.1069A>G (p.Thr357Ala) | |
19 | g.12650010T>G | CA404242982 | MAN2B1 | c.2170A>C (p.Thr724Pro) c.2167A>C (p.Thr723Pro) n.2760A>C c.2173A>C (p.Thr725Pro) c.1069A>C (p.Thr357Pro) | |
19 | g.12650011G>A | CA505770998 | MAN2B1 | c.2169C>T (p.Asp723=) c.2166C>T (p.Asp722=) n.2759C>T c.2172C>T (p.Asp724=) c.1068C>T (p.Asp356=) | ClinVar dbSNP |
19 | g.12650011G>C | CA404242983 | MAN2B1 | c.2169C>G (p.Asp723Glu) c.2166C>G (p.Asp722Glu) n.2759C>G c.2172C>G (p.Asp724Glu) c.1068C>G (p.Asp356Glu) | |
19 | g.12650011G>T | CA404242984 | MAN2B1 | c.2169C>A (p.Asp723Glu) c.2166C>A (p.Asp722Glu) n.2759C>A c.2172C>A (p.Asp724Glu) c.1068C>A (p.Asp356Glu) | |
19 | g.12650012T>A | CA404242989 | MAN2B1 | c.2168A>T (p.Asp723Val) c.2165A>T (p.Asp722Val) n.2758A>T c.2171A>T (p.Asp724Val) c.1067A>T (p.Asp356Val) | |
19 | g.12650012T>C | CA404242987 | MAN2B1 | c.2168A>G (p.Asp723Gly) c.2165A>G (p.Asp722Gly) n.2758A>G c.2171A>G (p.Asp724Gly) c.1067A>G (p.Asp356Gly) | |
19 | g.12650012T>G | CA404242985 | MAN2B1 | c.2168A>C (p.Asp723Ala) c.2165A>C (p.Asp722Ala) n.2758A>C c.2171A>C (p.Asp724Ala) c.1067A>C (p.Asp356Ala) | |
19 | g.12650013C>A | CA404242991 | MAN2B1 | c.2167G>T (p.Asp723Tyr) c.2164G>T (p.Asp722Tyr) n.2757G>T c.2170G>T (p.Asp724Tyr) c.1066G>T (p.Asp356Tyr) | |
19 | g.12650013C= | CA2323500037 | MAN2B1 | c.2167G= (p.Asp723=) c.2164G= (p.Asp722=) n.2757G= c.2170G= (p.Asp724=) c.1066G= (p.Asp356=) | |
19 | g.12650013C>G | CA404242994 | MAN2B1 | c.2167G>C (p.Asp723His) c.2164G>C (p.Asp722His) n.2757G>C c.2170G>C (p.Asp724His) c.1066G>C (p.Asp356His) | |
19 | g.12650013C>T | CA9226168 | MAN2B1 | c.2167G>A (p.Asp723Asn) c.2164G>A (p.Asp722Asn) n.2757G>A c.2170G>A (p.Asp724Asn) c.1066G>A (p.Asp356Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12650014G>A | CA9226169 | MAN2B1 | c.2166C>T (p.Gly722=) c.2163C>T (p.Gly721=) n.2756C>T c.2169C>T (p.Gly723=) c.1065C>T (p.Gly355=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12650014G>C | CA505771004 | MAN2B1 | c.2166C>G (p.Gly722=) c.2163C>G (p.Gly721=) n.2756C>G c.2169C>G (p.Gly723=) c.1065C>G (p.Gly355=) | |
19 | g.12650014G= | CA2323500038 | MAN2B1 | c.2166C= (p.Gly722=) c.2163C= (p.Gly721=) n.2756C= c.2169C= (p.Gly723=) c.1065C= (p.Gly355=) | |
19 | g.12650014G>T | CA505771003 | MAN2B1 | c.2166C>A (p.Gly722=) c.2163C>A (p.Gly721=) n.2756C>A c.2169C>A (p.Gly723=) c.1065C>A (p.Gly355=) | |
19 | g.12650015C>A | CA404243001 | MAN2B1 | c.2166-1G>T (n.2166-1G>T) c.2163-1G>T (n.2163-1G>T) n.2756-1G>T c.2169-1G>T (n.2169-1G>T) c.1065-1G>T (n.1065-1G>T) | |
19 | g.12650015C>G | CA404243002 | MAN2B1 | c.2166-1G>C (n.2166-1G>C) c.2163-1G>C (n.2163-1G>C) n.2756-1G>C c.2169-1G>C (n.2169-1G>C) c.1065-1G>C (n.1065-1G>C) | |
19 | g.12650015C>T | CA404243005 | MAN2B1 | c.2166-1G>A (n.2166-1G>A) c.2163-1G>A (n.2163-1G>A) n.2756-1G>A c.2169-1G>A (n.2169-1G>A) c.1065-1G>A (n.1065-1G>A) | |
19 | g.12650015_12650024del | CA913015544 | MAN2B1 | c.2166-10_2166-1del (n.2166-10_2166-1del) c.2163-10_2163-1del (n.2163-10_2163-1del) n.2756-10_2756-1del c.2169-10_2169-1del (n.2169-10_2169-1del) c.1065-10_1065-1del (n.1065-10_1065-1del) | |
19 | g.12650015_12650024delinsCTGTACCCAA | CA2323500039 | MAN2B1 | c.2166-10_2166-1delinsTTGGGTACAG (n.2166-10_2166-1delinsTTGGGTACAG) c.2163-10_2163-1delinsTTGGGTACAG (n.2163-10_2163-1delinsTTGGGTACAG) n.2756-10_2756-1delinsTTGGGTACAG c.2169-10_2169-1delinsTTGGGTACAG (n.2169-10_2169-1delinsTTGGGTACAG) c.1065-10_1065-1delinsTTGGGTACAG (n.1065-10_1065-1delinsTTGGGTACAG) | |
19 | g.12650016T>A | CA404243011 | MAN2B1 | c.2166-2A>T (n.2166-2A>T) c.2163-2A>T (n.2163-2A>T) n.2756-2A>T c.2169-2A>T (n.2169-2A>T) c.1065-2A>T (n.1065-2A>T) | |
19 | g.12650016T>C | CA404243012 | MAN2B1 | c.2166-2A>G (n.2166-2A>G) c.2163-2A>G (n.2163-2A>G) n.2756-2A>G c.2169-2A>G (n.2169-2A>G) c.1065-2A>G (n.1065-2A>G) | ClinVar dbSNP |
19 | g.12650016T>G | CA404243013 | MAN2B1 | c.2166-2A>C (n.2166-2A>C) c.2163-2A>C (n.2163-2A>C) n.2756-2A>C c.2169-2A>C (n.2169-2A>C) c.1065-2A>C (n.1065-2A>C) | |
19 | g.12650018_12650026del | CA658824629 | MAN2B1 | c.2166-10_2166-2del (n.2166-10_2166-2del) c.2163-10_2163-2del (n.2163-10_2163-2del) n.2756-10_2756-2del c.2169-10_2169-2del (n.2169-10_2169-2del) c.1065-10_1065-2del (n.1065-10_1065-2del) | ClinVar dbSNP |
19 | g.12650018T>C | CA2323500041 | MAN2B1 | c.2166-4A>G (n.2166-4A>G) c.2163-4A>G (n.2163-4A>G) n.2756-4A>G c.2169-4A>G (n.2169-4A>G) c.1065-4A>G (n.1065-4A>G) | dbSNP |
19 | g.12650018T= | CA2323500040 | MAN2B1 | c.2166-4A= (n.2166-4A=) c.2163-4A= (n.2163-4A=) n.2756-4A= c.2169-4A= (n.2169-4A=) c.1065-4A= (n.1065-4A=) | |
19 | g.12650020C>A | CA645607533 | MAN2B1 | c.2166-6G>T (n.2166-6G>T) c.2163-6G>T (n.2163-6G>T) n.2756-6G>T c.2169-6G>T (n.2169-6G>T) c.1065-6G>T (n.1065-6G>T) | gnomAD v4 COSMIC |
19 | g.12650020C>T | CA2582718670 | MAN2B1 | c.2166-6G>A (n.2166-6G>A) c.2163-6G>A (n.2163-6G>A) n.2756-6G>A c.2169-6G>A (n.2169-6G>A) c.1065-6G>A (n.1065-6G>A) | dbSNP gnomAD v4 |
19 | g.12650022C>A | CA2697556356 | MAN2B1 | c.2166-8G>T (n.2166-8G>T) c.2163-8G>T (n.2163-8G>T) n.2756-8G>T c.2169-8G>T (n.2169-8G>T) c.1065-8G>T (n.1065-8G>T) | ClinVar |
19 | g.12650022C= | CA2323500042 | MAN2B1 | c.2166-8G= (n.2166-8G=) c.2163-8G= (n.2163-8G=) n.2756-8G= c.2169-8G= (n.2169-8G=) c.1065-8G= (n.1065-8G=) | |
19 | g.12650022C>T | CA9226170 | MAN2B1 | c.2166-8G>A (n.2166-8G>A) c.2163-8G>A (n.2163-8G>A) n.2756-8G>A c.2169-8G>A (n.2169-8G>A) c.1065-8G>A (n.1065-8G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12650023A= | CA2323500043 | MAN2B1 | c.2166-9T= (n.2166-9T=) c.2163-9T= (n.2163-9T=) n.2756-9T= c.2169-9T= (n.2169-9T=) c.1065-9T= (n.1065-9T=) | |
19 | g.12650023A>C | CA2582718671 | MAN2B1 | c.2166-9T>G (n.2166-9T>G) c.2163-9T>G (n.2163-9T>G) n.2756-9T>G c.2169-9T>G (n.2169-9T>G) c.1065-9T>G (n.1065-9T>G) | gnomAD v4 |
19 | g.12650023A>T | CA9226171 | MAN2B1 | c.2166-9T>A (n.2166-9T>A) c.2163-9T>A (n.2163-9T>A) n.2756-9T>A c.2169-9T>A (n.2169-9T>A) c.1065-9T>A (n.1065-9T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12650024A>G | CA2573156075 | MAN2B1 | c.2166-10T>C (n.2166-10T>C) c.2163-10T>C (n.2163-10T>C) n.2756-10T>C c.2169-10T>C (n.2169-10T>C) c.1065-10T>C (n.1065-10T>C) | ClinVar dbSNP |
19 | g.12650025T>C | CA632119553 | MAN2B1 | c.2166-11A>G (n.2166-11A>G) c.2163-11A>G (n.2163-11A>G) n.2756-11A>G c.2169-11A>G (n.2169-11A>G) c.1065-11A>G (n.1065-11A>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12650025T= | CA2323500044 | MAN2B1 | c.2166-11A= (n.2166-11A=) c.2163-11A= (n.2163-11A=) n.2756-11A= c.2169-11A= (n.2169-11A=) c.1065-11A= (n.1065-11A=) | |
19 | g.12650026G>C | CA9226172 | MAN2B1 | c.2166-12C>G (n.2166-12C>G) c.2163-12C>G (n.2163-12C>G) n.2756-12C>G c.2169-12C>G (n.2169-12C>G) c.1065-12C>G (n.1065-12C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12650026G= | CA2323500045 | MAN2B1 | c.2166-12C= (n.2166-12C=) c.2163-12C= (n.2163-12C=) n.2756-12C= c.2169-12C= (n.2169-12C=) c.1065-12C= (n.1065-12C=) | |
19 | g.12650028G>A | CA632119554 | MAN2B1 | c.2166-14C>T (n.2166-14C>T) c.2163-14C>T (n.2163-14C>T) n.2756-14C>T c.2169-14C>T (n.2169-14C>T) c.1065-14C>T (n.1065-14C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12650028G>C | CA9226173 | MAN2B1 | c.2166-14C>G (n.2166-14C>G) c.2163-14C>G (n.2163-14C>G) n.2756-14C>G c.2169-14C>G (n.2169-14C>G) c.1065-14C>G (n.1065-14C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12650028G= | CA2323500046 | MAN2B1 | c.2166-14C= (n.2166-14C=) c.2163-14C= (n.2163-14C=) n.2756-14C= c.2169-14C= (n.2169-14C=) c.1065-14C= (n.1065-14C=) | |
19 | g.12650028G>T | CA2323500047 | MAN2B1 | c.2166-14C>A (n.2166-14C>A) c.2163-14C>A (n.2163-14C>A) n.2756-14C>A c.2169-14C>A (n.2169-14C>A) c.1065-14C>A (n.1065-14C>A) | dbSNP |
19 | g.12650031G>A | CA2582718672 | MAN2B1 | c.2166-17C>T (n.2166-17C>T) c.2163-17C>T (n.2163-17C>T) n.2756-17C>T c.2169-17C>T (n.2169-17C>T) c.1065-17C>T (n.1065-17C>T) | gnomAD v4 |
19 | g.12650032G>A | CA9226174 | MAN2B1 | c.2166-18C>T (n.2166-18C>T) c.2163-18C>T (n.2163-18C>T) n.2756-18C>T c.2169-18C>T (n.2169-18C>T) c.1065-18C>T (n.1065-18C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12650032G= | CA2323500048 | MAN2B1 | c.2166-18C= (n.2166-18C=) c.2163-18C= (n.2163-18C=) n.2756-18C= c.2169-18C= (n.2169-18C=) c.1065-18C= (n.1065-18C=) | |
19 | g.12650033C>T | CA2576635004 | MAN2B1 | c.2166-19G>A (n.2166-19G>A) c.2163-19G>A (n.2163-19G>A) n.2756-19G>A c.2169-19G>A (n.2169-19G>A) c.1065-19G>A (n.1065-19G>A) | |
19 | g.12650035_12650036delinsAG | CA2323500049 | MAN2B1 | c.2166-22_2166-21delinsCT (n.2166-22_2166-21delinsCT) c.2163-22_2163-21delinsCT (n.2163-22_2163-21delinsCT) n.2756-22_2756-21delinsCT c.2169-22_2169-21delinsCT (n.2169-22_2169-21delinsCT) c.1065-22_1065-21delinsCT (n.1065-22_1065-21delinsCT) | |
19 | g.12650036G>A | CA2582718673 | MAN2B1 | c.2166-22C>T (n.2166-22C>T) c.2163-22C>T (n.2163-22C>T) n.2756-22C>T c.2169-22C>T (n.2169-22C>T) c.1065-22C>T (n.1065-22C>T) | gnomAD v4 |
19 | g.12650036G>T | CA2582718674 | MAN2B1 | c.2166-22C>A (n.2166-22C>A) c.2163-22C>A (n.2163-22C>A) n.2756-22C>A c.2169-22C>A (n.2169-22C>A) c.1065-22C>A (n.1065-22C>A) | gnomAD v4 |
19 | g.12650037del | CA2323500050 | MAN2B1 | c.2166-22del (n.2166-22del) c.2163-22del (n.2163-22del) n.2756-22del c.2169-22del (n.2169-22del) c.1065-22del (n.1065-22del) | dbSNP |
19 | g.12650042G>A | CA9226175 | MAN2B1 | c.2166-28C>T (n.2166-28C>T) c.2163-28C>T (n.2163-28C>T) n.2756-28C>T c.2169-28C>T (n.2169-28C>T) c.1065-28C>T (n.1065-28C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12650042G>C | CA2323500052 | MAN2B1 | c.2166-28C>G (n.2166-28C>G) c.2163-28C>G (n.2163-28C>G) n.2756-28C>G c.2169-28C>G (n.2169-28C>G) c.1065-28C>G (n.1065-28C>G) | dbSNP |
19 | g.12650042G= | CA2323500051 | MAN2B1 | c.2166-28C= (n.2166-28C=) c.2163-28C= (n.2163-28C=) n.2756-28C= c.2169-28C= (n.2169-28C=) c.1065-28C= (n.1065-28C=) | |
19 | g.12650042G>T | CA2576635005 | MAN2B1 | c.2166-28C>A (n.2166-28C>A) c.2163-28C>A (n.2163-28C>A) n.2756-28C>A c.2169-28C>A (n.2169-28C>A) c.1065-28C>A (n.1065-28C>A) | gnomAD v4 |
19 | g.12650043A>G | CA2582718675 | MAN2B1 | c.2166-29T>C (n.2166-29T>C) c.2163-29T>C (n.2163-29T>C) n.2756-29T>C c.2169-29T>C (n.2169-29T>C) c.1065-29T>C (n.1065-29T>C) | gnomAD v4 |
19 | g.12650044G>A | CA2582718676 | MAN2B1 | c.2166-30C>T (n.2166-30C>T) c.2163-30C>T (n.2163-30C>T) n.2756-30C>T c.2169-30C>T (n.2169-30C>T) c.1065-30C>T (n.1065-30C>T) | gnomAD v4 |
19 | g.12650045C>A | CA2582718677 | MAN2B1 | c.2166-31G>T (n.2166-31G>T) c.2163-31G>T (n.2163-31G>T) n.2756-31G>T c.2169-31G>T (n.2169-31G>T) c.1065-31G>T (n.1065-31G>T) | gnomAD v4 |
19 | g.12650048T>C | CA9226176 | MAN2B1 | c.2166-34A>G (n.2166-34A>G) c.2163-34A>G (n.2163-34A>G) n.2756-34A>G c.2169-34A>G (n.2169-34A>G) c.1065-34A>G (n.1065-34A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12650048T>G | CA2323500054 | MAN2B1 | c.2166-34A>C (n.2166-34A>C) c.2163-34A>C (n.2163-34A>C) n.2756-34A>C c.2169-34A>C (n.2169-34A>C) c.1065-34A>C (n.1065-34A>C) | dbSNP |
19 | g.12650048T= | CA2323500053 | MAN2B1 | c.2166-34A= (n.2166-34A=) c.2163-34A= (n.2163-34A=) n.2756-34A= c.2169-34A= (n.2169-34A=) c.1065-34A= (n.1065-34A=) | |
19 | g.12650049G>C | CA2323500056 | MAN2B1 | c.2166-35C>G (n.2166-35C>G) c.2163-35C>G (n.2163-35C>G) n.2756-35C>G c.2169-35C>G (n.2169-35C>G) c.1065-35C>G (n.1065-35C>G) | dbSNP gnomAD v4 |
19 | g.12650049G= | CA2323500055 | MAN2B1 | c.2166-35C= (n.2166-35C=) c.2163-35C= (n.2163-35C=) n.2756-35C= c.2169-35C= (n.2169-35C=) c.1065-35C= (n.1065-35C=) | |
19 | g.12650050G>A | CA9226177 | MAN2B1 | c.2166-36C>T (n.2166-36C>T) c.2163-36C>T (n.2163-36C>T) n.2756-36C>T c.2169-36C>T (n.2169-36C>T) c.1065-36C>T (n.1065-36C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12650050G= | CA2323500057 | MAN2B1 | c.2166-36C= (n.2166-36C=) c.2163-36C= (n.2163-36C=) n.2756-36C= c.2169-36C= (n.2169-36C=) c.1065-36C= (n.1065-36C=) | |
19 | g.12650051A>T | CA2582718678 | MAN2B1 | c.2166-37T>A (n.2166-37T>A) c.2163-37T>A (n.2163-37T>A) n.2756-37T>A c.2169-37T>A (n.2169-37T>A) c.1065-37T>A (n.1065-37T>A) | gnomAD v4 |
19 | g.12650052dup | CA2582718679 | MAN2B1 | c.2166-38dup (n.2166-38dup) c.2163-38dup (n.2163-38dup) n.2756-38dup c.2169-38dup (n.2169-38dup) c.1065-38dup (n.1065-38dup) | gnomAD v4 |
19 | g.12650053A= | CA2323500058 | MAN2B1 | c.2166-39T= (n.2166-39T=) c.2163-39T= (n.2163-39T=) n.2756-39T= c.2169-39T= (n.2169-39T=) c.1065-39T= (n.1065-39T=) | |
19 | g.12650053A>G | CA9226178 | MAN2B1 | c.2166-39T>C (n.2166-39T>C) c.2163-39T>C (n.2163-39T>C) n.2756-39T>C c.2169-39T>C (n.2169-39T>C) c.1065-39T>C (n.1065-39T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12650055A= | CA2323500059 | MAN2B1 | c.2166-41T= (n.2166-41T=) c.2163-41T= (n.2163-41T=) n.2756-41T= c.2169-41T= (n.2169-41T=) c.1065-41T= (n.1065-41T=) | |
19 | g.12650055A>C | CA2323500060 | MAN2B1 | c.2166-41T>G (n.2166-41T>G) c.2163-41T>G (n.2163-41T>G) n.2756-41T>G c.2169-41T>G (n.2169-41T>G) c.1065-41T>G (n.1065-41T>G) | dbSNP |
19 | g.12650056C>A | CA2582718681 | MAN2B1 | c.2166-42G>T (n.2166-42G>T) c.2163-42G>T (n.2163-42G>T) n.2756-42G>T c.2169-42G>T (n.2169-42G>T) c.1065-42G>T (n.1065-42G>T) | gnomAD v4 |
19 | g.12650056C= | CA2323500061 | MAN2B1 | c.2166-42G= (n.2166-42G=) c.2163-42G= (n.2163-42G=) n.2756-42G= c.2169-42G= (n.2169-42G=) c.1065-42G= (n.1065-42G=) | |
19 | g.12650056C>T | CA9226179 | MAN2B1 | c.2166-42G>A (n.2166-42G>A) c.2163-42G>A (n.2163-42G>A) n.2756-42G>A c.2169-42G>A (n.2169-42G>A) c.1065-42G>A (n.1065-42G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12650059del | CA2582718680 | MAN2B1 | c.2166-42del (n.2166-42del) c.2163-42del (n.2163-42del) n.2756-42del c.2169-42del (n.2169-42del) c.1065-42del (n.1065-42del) | gnomAD v4 |
19 | g.12650057C>A | CA783386139 | MAN2B1 | c.2166-43G>T (n.2166-43G>T) c.2163-43G>T (n.2163-43G>T) n.2756-43G>T c.2169-43G>T (n.2169-43G>T) c.1065-43G>T (n.1065-43G>T) | dbSNP |
19 | g.12650057C= | CA2323500062 | MAN2B1 | c.2166-43G= (n.2166-43G=) c.2163-43G= (n.2163-43G=) n.2756-43G= c.2169-43G= (n.2169-43G=) c.1065-43G= (n.1065-43G=) | |
19 | g.12650057C>T | CA2558193711 | MAN2B1 | c.2166-43G>A (n.2166-43G>A) c.2163-43G>A (n.2163-43G>A) n.2756-43G>A c.2169-43G>A (n.2169-43G>A) c.1065-43G>A (n.1065-43G>A) |