Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.12649955C>ACA404242712MAN2B1c.2225G>T (p.Arg742Leu)
c.2222G>T (p.Arg741Leu)
n.2815G>T
c.2228G>T (p.Arg743Leu)
c.1124G>T (p.Arg375Leu)
 dbSNP gnomAD v4
19g.12649955C=CA2323500014MAN2B1c.2225G= (p.Arg742=)
c.2222G= (p.Arg741=)
n.2815G=
c.2228G= (p.Arg743=)
c.1124G= (p.Arg375=)
19g.12649955C>GCA404242715MAN2B1c.2225G>C (p.Arg742Pro)
c.2222G>C (p.Arg741Pro)
n.2815G>C
c.2228G>C (p.Arg743Pro)
c.1124G>C (p.Arg375Pro)
 gnomAD v4
19g.12649955C>TCA9226154MAN2B1c.2225G>A (p.Arg742His)
c.2222G>A (p.Arg741His)
n.2815G>A
c.2228G>A (p.Arg743His)
c.1124G>A (p.Arg375His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12649956G>ACA9226155MAN2B1c.2224C>T (p.Arg742Cys)
c.2221C>T (p.Arg741Cys)
n.2814C>T
c.2227C>T (p.Arg743Cys)
c.1123C>T (p.Arg375Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.12649956G>CCA9226156MAN2B1c.2224C>G (p.Arg742Gly)
c.2221C>G (p.Arg741Gly)
n.2814C>G
c.2227C>G (p.Arg743Gly)
c.1123C>G (p.Arg375Gly)
 dbSNP ExAC gnomAD v2
19g.12649956G=CA2323500015MAN2B1c.2224C= (p.Arg742=)
c.2221C= (p.Arg741=)
n.2814C=
c.2227C= (p.Arg743=)
c.1123C= (p.Arg375=)
19g.12649956G>TCA404242723MAN2B1c.2224C>A (p.Arg742Ser)
c.2221C>A (p.Arg741Ser)
n.2814C>A
c.2227C>A (p.Arg743Ser)
c.1123C>A (p.Arg375Ser)
19g.12649957T>ACA505770889MAN2B1c.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
19g.12649957T>CCA505770885MAN2B1c.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
19g.12649957T>GCA505770887MAN2B1c.2223A>C (p.Gly741=)
c.2220A>C (p.Gly740=)
n.2813A>C
c.2226A>C (p.Gly742=)
c.1122A>C (p.Gly374=)
19g.12649957T=CA2323500016MAN2B1c.2223A= (p.Gly741=)
c.2220A= (p.Gly740=)
n.2813A=
c.2226A= (p.Gly742=)
c.1122A= (p.Gly374=)
19g.12649958C>ACA404242724MAN2B1c.2222G>T (p.Gly741Val)
c.2219G>T (p.Gly740Val)
n.2812G>T
c.2225G>T (p.Gly742Val)
c.1121G>T (p.Gly374Val)
19g.12649958C=CA2323500017MAN2B1c.2222G= (p.Gly741=)
c.2219G= (p.Gly740=)
n.2812G=
c.2225G= (p.Gly742=)
c.1121G= (p.Gly374=)
19g.12649958C>GCA404242726MAN2B1c.2222G>C (p.Gly741Ala)
c.2219G>C (p.Gly740Ala)
n.2812G>C
c.2225G>C (p.Gly742Ala)
c.1121G>C (p.Gly374Ala)
19g.12649958C>TCA404242728MAN2B1c.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
19g.12649960delCA2695198133MAN2B1c.2222del (p.Gly741AspfsTer25)
c.2219del (p.Gly740AspfsTer25)
n.2812del
c.2225del (p.Gly742AspfsTer25)
c.1121del (p.Gly374AspfsTer25)
 ClinVar
19g.12649959C>ACA404242735MAN2B1c.2221G>T (p.Gly741Ter)
c.2218G>T (p.Gly740Ter)
n.2811G>T
c.2224G>T (p.Gly742Ter)
c.1120G>T (p.Gly374Ter)
19g.12649959C=CA2323500018MAN2B1c.2221G= (p.Gly741=)
c.2218G= (p.Gly740=)
n.2811G=
c.2224G= (p.Gly742=)
c.1120G= (p.Gly374=)
19g.12649959C>GCA404242732MAN2B1c.2221G>C (p.Gly741Arg)
c.2218G>C (p.Gly740Arg)
n.2811G>C
c.2224G>C (p.Gly742Arg)
c.1120G>C (p.Gly374Arg)
19g.12649959C>TCA9226157MAN2B1c.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
19g.12649960C>ACA404242737MAN2B1c.2220G>T (p.Lys740Asn)
c.2217G>T (p.Lys739Asn)
n.2810G>T
c.2223G>T (p.Lys741Asn)
c.1119G>T (p.Lys373Asn)
19g.12649960C=CA2323500019MAN2B1c.2220G= (p.Lys740=)
c.2217G= (p.Lys739=)
n.2810G=
c.2223G= (p.Lys741=)
c.1119G= (p.Lys373=)
19g.12649960C>GCA404242738MAN2B1c.2220G>C (p.Lys740Asn)
c.2217G>C (p.Lys739Asn)
n.2810G>C
c.2223G>C (p.Lys741Asn)
c.1119G>C (p.Lys373Asn)
 gnomAD v4
19g.12649960C>TCA505770894MAN2B1c.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
19g.12649961T>ACA404242742MAN2B1c.2219A>T (p.Lys740Met)
c.2216A>T (p.Lys739Met)
n.2809A>T
c.2222A>T (p.Lys741Met)
c.1118A>T (p.Lys373Met)
19g.12649961T>CCA404242745MAN2B1c.2219A>G (p.Lys740Arg)
c.2216A>G (p.Lys739Arg)
n.2809A>G
c.2222A>G (p.Lys741Arg)
c.1118A>G (p.Lys373Arg)
19g.12649961T>GCA404242747MAN2B1c.2219A>C (p.Lys740Thr)
c.2216A>C (p.Lys739Thr)
n.2809A>C
c.2222A>C (p.Lys741Thr)
c.1118A>C (p.Lys373Thr)
19g.12649963delCA2695228313MAN2B1c.2219del (p.Lys740ArgfsTer26)
c.2216del (p.Lys739ArgfsTer26)
n.2809del
c.2222del (p.Lys741ArgfsTer26)
c.1118del (p.Lys373ArgfsTer26)
19g.12649962T>ACA404242748MAN2B1c.2218A>T (p.Lys740Ter)
c.2215A>T (p.Lys739Ter)
n.2808A>T
c.2221A>T (p.Lys741Ter)
c.1117A>T (p.Lys373Ter)
19g.12649962T>CCA404242752MAN2B1c.2218A>G (p.Lys740Glu)
c.2215A>G (p.Lys739Glu)
n.2808A>G
c.2221A>G (p.Lys741Glu)
c.1117A>G (p.Lys373Glu)
19g.12649962T>GCA404242754MAN2B1c.2218A>C (p.Lys740Gln)
c.2215A>C (p.Lys739Gln)
n.2808A>C
c.2221A>C (p.Lys741Gln)
c.1117A>C (p.Lys373Gln)
19g.12649963T>ACA505770899MAN2B1c.2217A>T (p.Thr739=)
c.2214A>T (p.Thr738=)
n.2807A>T
c.2220A>T (p.Thr740=)
c.1116A>T (p.Thr372=)
19g.12649963T>CCA505770901MAN2B1c.2217A>G (p.Thr739=)
c.2214A>G (p.Thr738=)
n.2807A>G
c.2220A>G (p.Thr740=)
c.1116A>G (p.Thr372=)
 gnomAD v4
19g.12649963T>GCA505770903MAN2B1c.2217A>C (p.Thr739=)
c.2214A>C (p.Thr738=)
n.2807A>C
c.2220A>C (p.Thr740=)
c.1116A>C (p.Thr372=)
19g.12649964G>ACA404242756MAN2B1c.2216C>T (p.Thr739Ile)
c.2213C>T (p.Thr738Ile)
n.2806C>T
c.2219C>T (p.Thr740Ile)
c.1115C>T (p.Thr372Ile)
19g.12649964G>CCA404242757MAN2B1c.2216C>G (p.Thr739Arg)
c.2213C>G (p.Thr738Arg)
n.2806C>G
c.2219C>G (p.Thr740Arg)
c.1115C>G (p.Thr372Arg)
19g.12649964G>TCA404242759MAN2B1c.2216C>A (p.Thr739Lys)
c.2213C>A (p.Thr738Lys)
n.2806C>A
c.2219C>A (p.Thr740Lys)
c.1115C>A (p.Thr372Lys)
 gnomAD v4
19g.12649965T>ACA404242761MAN2B1c.2215A>T (p.Thr739Ser)
c.2212A>T (p.Thr738Ser)
n.2805A>T
c.2218A>T (p.Thr740Ser)
c.1114A>T (p.Thr372Ser)
19g.12649965T>CCA404242762MAN2B1c.2215A>G (p.Thr739Ala)
c.2212A>G (p.Thr738Ala)
n.2805A>G
c.2218A>G (p.Thr740Ala)
c.1114A>G (p.Thr372Ala)
19g.12649965T>GCA404242764MAN2B1c.2215A>C (p.Thr739Pro)
c.2212A>C (p.Thr738Pro)
n.2805A>C
c.2218A>C (p.Thr740Pro)
c.1114A>C (p.Thr372Pro)
19g.12649966C>ACA404242765MAN2B1c.2214G>T (p.Glu738Asp)
c.2211G>T (p.Glu737Asp)
n.2804G>T
c.2217G>T (p.Glu739Asp)
c.1113G>T (p.Glu371Asp)
 COSMIC
19g.12649966C=CA2323500020MAN2B1c.2214G= (p.Glu738=)
c.2211G= (p.Glu737=)
n.2804G=
c.2217G= (p.Glu739=)
c.1113G= (p.Glu371=)
19g.12649966C>GCA404242766MAN2B1c.2214G>C (p.Glu738Asp)
c.2211G>C (p.Glu737Asp)
n.2804G>C
c.2217G>C (p.Glu739Asp)
c.1113G>C (p.Glu371Asp)
19g.12649966C>TCA9226158MAN2B1c.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
19g.12649967T>ACA404242767MAN2B1c.2213A>T (p.Glu738Val)
c.2210A>T (p.Glu737Val)
n.2803A>T
c.2216A>T (p.Glu739Val)
c.1112A>T (p.Glu371Val)
19g.12649967T>CCA404242769MAN2B1c.2213A>G (p.Glu738Gly)
c.2210A>G (p.Glu737Gly)
n.2803A>G
c.2216A>G (p.Glu739Gly)
c.1112A>G (p.Glu371Gly)
19g.12649967T>GCA404242772MAN2B1c.2213A>C (p.Glu738Ala)
c.2210A>C (p.Glu737Ala)
n.2803A>C
c.2216A>C (p.Glu739Ala)
c.1112A>C (p.Glu371Ala)
19g.12649967_12649968delinsTCCA2323500021MAN2B1c.2212_2213delinsGA (p.Glu738=)
c.2209_2210delinsGA (p.Glu737=)
n.2802_2803delinsGA
c.2215_2216delinsGA (p.Glu739=)
c.1111_1112delinsGA (p.Glu371=)
19g.12649968C>ACA404242774MAN2B1c.2212G>T (p.Glu738Ter)
c.2209G>T (p.Glu737Ter)
n.2802G>T
c.2215G>T (p.Glu739Ter)
c.1111G>T (p.Glu371Ter)
19g.12649968C>GCA404242775MAN2B1c.2212G>C (p.Glu738Gln)
c.2209G>C (p.Glu737Gln)
n.2802G>C
c.2215G>C (p.Glu739Gln)
c.1111G>C (p.Glu371Gln)
 gnomAD v4
19g.12649968C>TCA404242777MAN2B1c.2212G>A (p.Glu738Lys)
c.2209G>A (p.Glu737Lys)
n.2802G>A
c.2215G>A (p.Glu739Lys)
c.1111G>A (p.Glu371Lys)
19g.12649969delCA658799153MAN2B1c.2212del (p.Glu738ArgfsTer28)
c.2209del (p.Glu737ArgfsTer28)
n.2802del
c.2215del (p.Glu739ArgfsTer28)
c.1111del (p.Glu371ArgfsTer28)
 ClinVar dbSNP
19g.12649969C>ACA505770912MAN2B1c.2211G>T (p.Leu737=)
c.2208G>T (p.Leu736=)
n.2801G>T
c.2214G>T (p.Leu738=)
c.1110G>T (p.Leu370=)
19g.12649969C>GCA505770914MAN2B1c.2211G>C (p.Leu737=)
c.2208G>C (p.Leu736=)
n.2801G>C
c.2214G>C (p.Leu738=)
c.1110G>C (p.Leu370=)
19g.12649969C>TCA505770915MAN2B1c.2211G>A (p.Leu737=)
c.2208G>A (p.Leu736=)
n.2801G>A
c.2214G>A (p.Leu738=)
c.1110G>A (p.Leu370=)
19g.12649970A>CCA404242778MAN2B1c.2210T>G (p.Leu737Arg)
c.2207T>G (p.Leu736Arg)
n.2800T>G
c.2213T>G (p.Leu738Arg)
c.1109T>G (p.Leu370Arg)
19g.12649970A>GCA404242779MAN2B1c.2210T>C (p.Leu737Pro)
c.2207T>C (p.Leu736Pro)
n.2800T>C
c.2213T>C (p.Leu738Pro)
c.1109T>C (p.Leu370Pro)
19g.12649970A>TCA404242781MAN2B1c.2210T>A (p.Leu737Gln)
c.2207T>A (p.Leu736Gln)
n.2800T>A
c.2213T>A (p.Leu738Gln)
c.1109T>A (p.Leu370Gln)
 gnomAD v4
19g.12649971G>ACA505770918MAN2B1c.2209C>T (p.Leu737=)
c.2206C>T (p.Leu736=)
n.2799C>T
c.2212C>T (p.Leu738=)
c.1108C>T (p.Leu370=)
 ClinVar
19g.12649971G>CCA404242783MAN2B1c.2209C>G (p.Leu737Val)
c.2206C>G (p.Leu736Val)
n.2799C>G
c.2212C>G (p.Leu738Val)
c.1108C>G (p.Leu370Val)
19g.12649971G>TCA404242785MAN2B1c.2209C>A (p.Leu737Met)
c.2206C>A (p.Leu736Met)
n.2799C>A
c.2212C>A (p.Leu738Met)
c.1108C>A (p.Leu370Met)
19g.12649972C>ACA505770922MAN2B1c.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
19g.12649972C=CA2323500022MAN2B1c.2208G= (p.Pro736=)
c.2205G= (p.Pro735=)
n.2798G=
c.2211G= (p.Pro737=)
c.1107G= (p.Pro369=)
19g.12649972C>GCA505770923MAN2B1c.2208G>C (p.Pro736=)
c.2205G>C (p.Pro735=)
n.2798G>C
c.2211G>C (p.Pro737=)
c.1107G>C (p.Pro369=)
19g.12649972C>TCA9226159MAN2B1c.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
19g.12649973G>ACA404242790MAN2B1c.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
19g.12649973G>CCA404242786MAN2B1c.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
19g.12649973G=CA2323500023MAN2B1c.2207C= (p.Pro736=)
c.2204C= (p.Pro735=)
n.2797C=
c.2210C= (p.Pro737=)
c.1106C= (p.Pro369=)
19g.12649973G>TCA404242788MAN2B1c.2207C>A (p.Pro736Gln)
c.2204C>A (p.Pro735Gln)
n.2797C>A
c.2210C>A (p.Pro737Gln)
c.1106C>A (p.Pro369Gln)
19g.12649974G>ACA404242792MAN2B1c.2206C>T (p.Pro736Ser)
c.2203C>T (p.Pro735Ser)
n.2796C>T
c.2209C>T (p.Pro737Ser)
c.1105C>T (p.Pro369Ser)
 gnomAD v4
19g.12649974G>CCA404242793MAN2B1c.2206C>G (p.Pro736Ala)
c.2203C>G (p.Pro735Ala)
n.2796C>G
c.2209C>G (p.Pro737Ala)
c.1105C>G (p.Pro369Ala)
19g.12649974G>TCA404242795MAN2B1c.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
19g.12649975T>ACA505770929MAN2B1c.2205A>T (p.Thr735=)
c.2202A>T (p.Thr734=)
n.2795A>T
c.2208A>T (p.Thr736=)
c.1104A>T (p.Thr368=)
19g.12649975T>CCA505770930MAN2B1c.2205A>G (p.Thr735=)
c.2202A>G (p.Thr734=)
n.2795A>G
c.2208A>G (p.Thr736=)
c.1104A>G (p.Thr368=)
19g.12649975T>GCA505770931MAN2B1c.2205A>C (p.Thr735=)
c.2202A>C (p.Thr734=)
n.2795A>C
c.2208A>C (p.Thr736=)
c.1104A>C (p.Thr368=)
19g.12649976G>ACA404242797MAN2B1c.2204C>T (p.Thr735Ile)
c.2201C>T (p.Thr734Ile)
n.2794C>T
c.2207C>T (p.Thr736Ile)
c.1103C>T (p.Thr368Ile)
 gnomAD v4
19g.12649976G>CCA404242799MAN2B1c.2204C>G (p.Thr735Arg)
c.2201C>G (p.Thr734Arg)
n.2794C>G
c.2207C>G (p.Thr736Arg)
c.1103C>G (p.Thr368Arg)
19g.12649976G>TCA404242800MAN2B1c.2204C>A (p.Thr735Lys)
c.2201C>A (p.Thr734Lys)
n.2794C>A
c.2207C>A (p.Thr736Lys)
c.1103C>A (p.Thr368Lys)
19g.12649977T>ACA404242801MAN2B1c.2203A>T (p.Thr735Ser)
c.2200A>T (p.Thr734Ser)
n.2793A>T
c.2206A>T (p.Thr736Ser)
c.1102A>T (p.Thr368Ser)
19g.12649977T>CCA404242803MAN2B1c.2203A>G (p.Thr735Ala)
c.2200A>G (p.Thr734Ala)
n.2793A>G
c.2206A>G (p.Thr736Ala)
c.1102A>G (p.Thr368Ala)
19g.12649977T>GCA404242805MAN2B1c.2203A>C (p.Thr735Pro)
c.2200A>C (p.Thr734Pro)
n.2793A>C
c.2206A>C (p.Thr736Pro)
c.1102A>C (p.Thr368Pro)
19g.12649978G>ACA505770938MAN2B1c.2202C>T (p.Asp734=)
c.2199C>T (p.Asp733=)
n.2792C>T
c.2205C>T (p.Asp735=)
c.1101C>T (p.Asp367=)
 ClinVar
19g.12649978G>CCA404242807MAN2B1c.2202C>G (p.Asp734Glu)
c.2199C>G (p.Asp733Glu)
n.2792C>G
c.2205C>G (p.Asp735Glu)
c.1101C>G (p.Asp367Glu)
19g.12649978G>TCA404242808MAN2B1c.2202C>A (p.Asp734Glu)
c.2199C>A (p.Asp733Glu)
n.2792C>A
c.2205C>A (p.Asp735Glu)
c.1101C>A (p.Asp367Glu)
19g.12649979T>ACA404242813MAN2B1c.2201A>T (p.Asp734Val)
c.2198A>T (p.Asp733Val)
n.2791A>T
c.2204A>T (p.Asp735Val)
c.1100A>T (p.Asp367Val)
19g.12649979T>CCA404242812MAN2B1c.2201A>G (p.Asp734Gly)
c.2198A>G (p.Asp733Gly)
n.2791A>G
c.2204A>G (p.Asp735Gly)
c.1100A>G (p.Asp367Gly)
19g.12649979T>GCA404242810MAN2B1c.2201A>C (p.Asp734Ala)
c.2198A>C (p.Asp733Ala)
n.2791A>C
c.2204A>C (p.Asp735Ala)
c.1100A>C (p.Asp367Ala)
19g.12649980C>ACA404242815MAN2B1c.2200G>T (p.Asp734Tyr)
c.2197G>T (p.Asp733Tyr)
n.2790G>T
c.2203G>T (p.Asp735Tyr)
c.1099G>T (p.Asp367Tyr)
19g.12649980C>GCA404242816MAN2B1c.2200G>C (p.Asp734His)
c.2197G>C (p.Asp733His)
n.2790G>C
c.2203G>C (p.Asp735His)
c.1099G>C (p.Asp367His)
19g.12649980C>TCA404242818MAN2B1c.2200G>A (p.Asp734Asn)
c.2197G>A (p.Asp733Asn)
n.2790G>A
c.2203G>A (p.Asp735Asn)
c.1099G>A (p.Asp367Asn)
19g.12649981A>CCA404242824MAN2B1c.2199T>G (p.Phe733Leu)
c.2196T>G (p.Phe732Leu)
n.2789T>G
c.2202T>G (p.Phe734Leu)
c.1098T>G (p.Phe366Leu)
19g.12649981A>GCA505770942MAN2B1c.2199T>C (p.Phe733=)
c.2196T>C (p.Phe732=)
n.2789T>C
c.2202T>C (p.Phe734=)
c.1098T>C (p.Phe366=)
19g.12649981A>TCA404242825MAN2B1c.2199T>A (p.Phe733Leu)
c.2196T>A (p.Phe732Leu)
n.2789T>A
c.2202T>A (p.Phe734Leu)
c.1098T>A (p.Phe366Leu)
19g.12649984delCA2580096687MAN2B1c.2199del (p.Phe733LeufsTer?)
c.2196del (p.Phe732LeufsTer?)
n.2789del
c.2202del (p.Phe734LeufsTer?)
c.1098del (p.Phe366LeufsTer?)
 ClinVar
19g.12649982A>CCA404242830MAN2B1c.2198T>G (p.Phe733Cys)
c.2195T>G (p.Phe732Cys)
n.2788T>G
c.2201T>G (p.Phe734Cys)
c.1097T>G (p.Phe366Cys)
19g.12649982A>GCA404242829MAN2B1c.2198T>C (p.Phe733Ser)
c.2195T>C (p.Phe732Ser)
n.2788T>C
c.2201T>C (p.Phe734Ser)
c.1097T>C (p.Phe366Ser)
19g.12649982A>TCA404242827MAN2B1c.2198T>A (p.Phe733Tyr)
c.2195T>A (p.Phe732Tyr)
n.2788T>A
c.2201T>A (p.Phe734Tyr)
c.1097T>A (p.Phe366Tyr)
19g.12649983A>CCA404242832MAN2B1c.2197T>G (p.Phe733Val)
c.2194T>G (p.Phe732Val)
n.2787T>G
c.2200T>G (p.Phe734Val)
c.1096T>G (p.Phe366Val)
19g.12649983A>GCA404242834MAN2B1c.2197T>C (p.Phe733Leu)
c.2194T>C (p.Phe732Leu)
n.2787T>C
c.2200T>C (p.Phe734Leu)
c.1096T>C (p.Phe366Leu)
19g.12649983A>TCA404242835MAN2B1c.2197T>A (p.Phe733Ile)
c.2194T>A (p.Phe732Ile)
n.2787T>A
c.2200T>A (p.Phe734Ile)
c.1096T>A (p.Phe366Ile)
19g.12649984A>CCA505770945MAN2B1c.2196T>G (p.Arg732=)
c.2193T>G (p.Arg731=)
n.2786T>G
c.2199T>G (p.Arg733=)
c.1095T>G (p.Arg365=)
19g.12649984A>GCA505770947MAN2B1c.2196T>C (p.Arg732=)
c.2193T>C (p.Arg731=)
n.2786T>C
c.2199T>C (p.Arg733=)
c.1095T>C (p.Arg365=)
19g.12649984A>TCA505770949MAN2B1c.2196T>A (p.Arg732=)
c.2193T>A (p.Arg731=)
n.2786T>A
c.2199T>A (p.Arg733=)
c.1095T>A (p.Arg365=)
19g.12649985C>ACA404242837MAN2B1c.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
19g.12649985C=CA2323500024MAN2B1c.2195G= (p.Arg732=)
c.2192G= (p.Arg731=)
n.2785G=
c.2198G= (p.Arg733=)
c.1094G= (p.Arg365=)
19g.12649985C>GCA404242838MAN2B1c.2195G>C (p.Arg732Pro)
c.2192G>C (p.Arg731Pro)
n.2785G>C
c.2198G>C (p.Arg733Pro)
c.1094G>C (p.Arg365Pro)
19g.12649985C>TCA9226160MAN2B1c.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
19g.12649986G>ACA9226161MAN2B1c.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
19g.12649986G>CCA404242841MAN2B1c.2194C>G (p.Arg732Gly)
c.2191C>G (p.Arg731Gly)
n.2784C>G
c.2197C>G (p.Arg733Gly)
c.1093C>G (p.Arg365Gly)
19g.12649986G=CA2323500025MAN2B1c.2194C= (p.Arg732=)
c.2191C= (p.Arg731=)
n.2784C=
c.2197C= (p.Arg733=)
c.1093C= (p.Arg365=)
19g.12649986G>TCA404242842MAN2B1c.2194C>A (p.Arg732Ser)
c.2191C>A (p.Arg731Ser)
n.2784C>A
c.2197C>A (p.Arg733Ser)
c.1093C>A (p.Arg365Ser)
 COSMIC
19g.12649987G>ACA505770952MAN2B1c.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
19g.12649987G>CCA404242846MAN2B1c.2193C>G (p.Ser731Arg)
c.2190C>G (p.Ser730Arg)
n.2783C>G
c.2196C>G (p.Ser732Arg)
c.1092C>G (p.Ser364Arg)
19g.12649987G=CA2323500026MAN2B1c.2193C= (p.Ser731=)
c.2190C= (p.Ser730=)
n.2783C=
c.2196C= (p.Ser732=)
c.1092C= (p.Ser364=)
19g.12649987G>TCA404242852MAN2B1c.2193C>A (p.Ser731Arg)
c.2190C>A (p.Ser730Arg)
n.2783C>A
c.2196C>A (p.Ser732Arg)
c.1092C>A (p.Ser364Arg)
19g.12649988C>ACA404242854MAN2B1c.2192G>T (p.Ser731Ile)
c.2189G>T (p.Ser730Ile)
n.2782G>T
c.2195G>T (p.Ser732Ile)
c.1091G>T (p.Ser364Ile)
19g.12649988C>GCA404242861MAN2B1c.2192G>C (p.Ser731Thr)
c.2189G>C (p.Ser730Thr)
n.2782G>C
c.2195G>C (p.Ser732Thr)
c.1091G>C (p.Ser364Thr)
19g.12649988C>TCA404242862MAN2B1c.2192G>A (p.Ser731Asn)
c.2189G>A (p.Ser730Asn)
n.2782G>A
c.2195G>A (p.Ser732Asn)
c.1091G>A (p.Ser364Asn)
19g.12649989T>ACA404242865MAN2B1c.2191A>T (p.Ser731Cys)
c.2188A>T (p.Ser730Cys)
n.2781A>T
c.2194A>T (p.Ser732Cys)
c.1090A>T (p.Ser364Cys)
19g.12649989T>CCA404242867MAN2B1c.2191A>G (p.Ser731Gly)
c.2188A>G (p.Ser730Gly)
n.2781A>G
c.2194A>G (p.Ser732Gly)
c.1090A>G (p.Ser364Gly)
19g.12649989T>GCA404242868MAN2B1c.2191A>C (p.Ser731Arg)
c.2188A>C (p.Ser730Arg)
n.2781A>C
c.2194A>C (p.Ser732Arg)
c.1090A>C (p.Ser364Arg)
 gnomAD v4
19g.12649990G>ACA9226162MAN2B1c.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
19g.12649990G>CCA404242870MAN2B1c.2190C>G (p.Ile730Met)
c.2187C>G (p.Ile729Met)
n.2780C>G
c.2193C>G (p.Ile731Met)
c.1089C>G (p.Ile363Met)
19g.12649990G=CA2323500027MAN2B1c.2190C= (p.Ile730=)
c.2187C= (p.Ile729=)
n.2780C=
c.2193C= (p.Ile731=)
c.1089C= (p.Ile363=)
19g.12649990G>TCA505770959MAN2B1c.2190C>A (p.Ile730=)
c.2187C>A (p.Ile729=)
n.2780C>A
c.2193C>A (p.Ile731=)
c.1089C>A (p.Ile363=)
19g.12649991A>CCA404242873MAN2B1c.2189T>G (p.Ile730Ser)
c.2186T>G (p.Ile729Ser)
n.2779T>G
c.2192T>G (p.Ile731Ser)
c.1088T>G (p.Ile363Ser)
19g.12649991A>GCA404242877MAN2B1c.2189T>C (p.Ile730Thr)
c.2186T>C (p.Ile729Thr)
n.2779T>C
c.2192T>C (p.Ile731Thr)
c.1088T>C (p.Ile363Thr)
19g.12649991A>TCA404242878MAN2B1c.2189T>A (p.Ile730Asn)
c.2186T>A (p.Ile729Asn)
n.2779T>A
c.2192T>A (p.Ile731Asn)
c.1088T>A (p.Ile363Asn)
19g.12649992T>ACA404242885MAN2B1c.2188A>T (p.Ile730Phe)
c.2185A>T (p.Ile729Phe)
n.2778A>T
c.2191A>T (p.Ile731Phe)
c.1087A>T (p.Ile363Phe)
19g.12649992T>CCA404242881MAN2B1c.2188A>G (p.Ile730Val)
c.2185A>G (p.Ile729Val)
n.2778A>G
c.2191A>G (p.Ile731Val)
c.1087A>G (p.Ile363Val)
19g.12649992T>GCA404242883MAN2B1c.2188A>C (p.Ile730Leu)
c.2185A>C (p.Ile729Leu)
n.2778A>C
c.2191A>C (p.Ile731Leu)
c.1087A>C (p.Ile363Leu)
 gnomAD v4
19g.12649993G>ACA505770967MAN2B1c.2187C>T (p.Val729=)
c.2184C>T (p.Val728=)
n.2777C>T
c.2190C>T (p.Val730=)
c.1086C>T (p.Val362=)
19g.12649993G>CCA505770963MAN2B1c.2187C>G (p.Val729=)
c.2184C>G (p.Val728=)
n.2777C>G
c.2190C>G (p.Val730=)
c.1086C>G (p.Val362=)
19g.12649993G>TCA505770965MAN2B1c.2187C>A (p.Val729=)
c.2184C>A (p.Val728=)
n.2777C>A
c.2190C>A (p.Val730=)
c.1086C>A (p.Val362=)
19g.12649994A>CCA404242887MAN2B1c.2186T>G (p.Val729Gly)
c.2183T>G (p.Val728Gly)
n.2776T>G
c.2189T>G (p.Val730Gly)
c.1085T>G (p.Val362Gly)
19g.12649994A>GCA404242890MAN2B1c.2186T>C (p.Val729Ala)
c.2183T>C (p.Val728Ala)
n.2776T>C
c.2189T>C (p.Val730Ala)
c.1085T>C (p.Val362Ala)
19g.12649994A>TCA404242892MAN2B1c.2186T>A (p.Val729Asp)
c.2183T>A (p.Val728Asp)
n.2776T>A
c.2189T>A (p.Val730Asp)
c.1085T>A (p.Val362Asp)
19g.12649995C>ACA404242896MAN2B1c.2185G>T (p.Val729Phe)
c.2182G>T (p.Val728Phe)
n.2775G>T
c.2188G>T (p.Val730Phe)
c.1084G>T (p.Val362Phe)
19g.12649995C>GCA404242898MAN2B1c.2185G>C (p.Val729Leu)
c.2182G>C (p.Val728Leu)
n.2775G>C
c.2188G>C (p.Val730Leu)
c.1084G>C (p.Val362Leu)
19g.12649995C>TCA404242900MAN2B1c.2185G>A (p.Val729Ile)
c.2182G>A (p.Val728Ile)
n.2775G>A
c.2188G>A (p.Val730Ile)
c.1084G>A (p.Val362Ile)
 gnomAD v4
19g.12649996C>ACA404242905MAN2B1c.2184G>T (p.Glu728Asp)
c.2181G>T (p.Glu727Asp)
n.2774G>T
c.2187G>T (p.Glu729Asp)
c.1083G>T (p.Glu361Asp)
19g.12649996C=CA2323500028MAN2B1c.2184G= (p.Glu728=)
c.2181G= (p.Glu727=)
n.2774G=
c.2187G= (p.Glu729=)
c.1083G= (p.Glu361=)
19g.12649996C>GCA404242902MAN2B1c.2184G>C (p.Glu728Asp)
c.2181G>C (p.Glu727Asp)
n.2774G>C
c.2187G>C (p.Glu729Asp)
c.1083G>C (p.Glu361Asp)
 gnomAD v4
19g.12649996C>TCA505770974MAN2B1c.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
19g.12649997T>ACA404242907MAN2B1c.2183A>T (p.Glu728Val)
c.2180A>T (p.Glu727Val)
n.2773A>T
c.2186A>T (p.Glu729Val)
c.1082A>T (p.Glu361Val)
19g.12649997T>CCA404242909MAN2B1c.2183A>G (p.Glu728Gly)
c.2180A>G (p.Glu727Gly)
n.2773A>G
c.2186A>G (p.Glu729Gly)
c.1082A>G (p.Glu361Gly)
19g.12649997T>GCA404242910MAN2B1c.2183A>C (p.Glu728Ala)
c.2180A>C (p.Glu727Ala)
n.2773A>C
c.2186A>C (p.Glu729Ala)
c.1082A>C (p.Glu361Ala)
19g.12649998C>ACA404242914MAN2B1c.2182G>T (p.Glu728Ter)
c.2179G>T (p.Glu727Ter)
n.2772G>T
c.2185G>T (p.Glu729Ter)
c.1081G>T (p.Glu361Ter)
19g.12649998C=CA2323500029MAN2B1c.2182G= (p.Glu728=)
c.2179G= (p.Glu727=)
n.2772G=
c.2185G= (p.Glu729=)
c.1081G= (p.Glu361=)
19g.12649998C>GCA404242916MAN2B1c.2182G>C (p.Glu728Gln)
c.2179G>C (p.Glu727Gln)
n.2772G>C
c.2185G>C (p.Glu729Gln)
c.1081G>C (p.Glu361Gln)
19g.12649998C>TCA9226163MAN2B1c.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
19g.12649999C>ACA404242925MAN2B1c.2181G>T (p.Lys727Asn)
c.2178G>T (p.Lys726Asn)
n.2771G>T
c.2184G>T (p.Lys728Asn)
c.1080G>T (p.Lys360Asn)
19g.12649999C=CA2323500030MAN2B1c.2181G= (p.Lys727=)
c.2178G= (p.Lys726=)
n.2771G=
c.2184G= (p.Lys728=)
c.1080G= (p.Lys360=)
19g.12649999C>GCA305462760MAN2B1c.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
19g.12649999C>TCA9226164MAN2B1c.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
19g.12650000T>ACA404242927MAN2B1c.2180A>T (p.Lys727Met)
c.2177A>T (p.Lys726Met)
n.2770A>T
c.2183A>T (p.Lys728Met)
c.1079A>T (p.Lys360Met)
19g.12650000T>CCA9226165MAN2B1c.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
19g.12650000T>GCA404242933MAN2B1c.2180A>C (p.Lys727Thr)
c.2177A>C (p.Lys726Thr)
n.2770A>C
c.2183A>C (p.Lys728Thr)
c.1079A>C (p.Lys360Thr)
19g.12650000T=CA2323500031MAN2B1c.2180A= (p.Lys727=)
c.2177A= (p.Lys726=)
n.2770A=
c.2183A= (p.Lys728=)
c.1079A= (p.Lys360=)
19g.12650001T>ACA404242935MAN2B1c.2179A>T (p.Lys727Ter)
c.2176A>T (p.Lys726Ter)
n.2769A>T
c.2182A>T (p.Lys728Ter)
c.1078A>T (p.Lys360Ter)
19g.12650001T>CCA404242938MAN2B1c.2179A>G (p.Lys727Glu)
c.2176A>G (p.Lys726Glu)
n.2769A>G
c.2182A>G (p.Lys728Glu)
c.1078A>G (p.Lys360Glu)
19g.12650001T>GCA404242940MAN2B1c.2179A>C (p.Lys727Gln)
c.2176A>C (p.Lys726Gln)
n.2769A>C
c.2182A>C (p.Lys728Gln)
c.1078A>C (p.Lys360Gln)
19g.12650002C>ACA505770985MAN2B1c.2178G>T (p.Gly726=)
c.2175G>T (p.Gly725=)
n.2768G>T
c.2181G>T (p.Gly727=)
c.1077G>T (p.Gly359=)
19g.12650002C=CA2323500032MAN2B1c.2178G= (p.Gly726=)
c.2175G= (p.Gly725=)
n.2768G=
c.2181G= (p.Gly727=)
c.1077G= (p.Gly359=)
19g.12650002C>GCA505770986MAN2B1c.2178G>C (p.Gly726=)
c.2175G>C (p.Gly725=)
n.2768G>C
c.2181G>C (p.Gly727=)
c.1077G>C (p.Gly359=)
19g.12650002C>TCA505770987MAN2B1c.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
19g.12650003C>ACA404242941MAN2B1c.2177G>T (p.Gly726Val)
c.2174G>T (p.Gly725Val)
n.2767G>T
c.2180G>T (p.Gly727Val)
c.1076G>T (p.Gly359Val)
19g.12650003C=CA2323500033MAN2B1c.2177G= (p.Gly726=)
c.2174G= (p.Gly725=)
n.2767G=
c.2180G= (p.Gly727=)
c.1076G= (p.Gly359=)
19g.12650003C>GCA404242942MAN2B1c.2177G>C (p.Gly726Ala)
c.2174G>C (p.Gly725Ala)
n.2767G>C
c.2180G>C (p.Gly727Ala)
c.1076G>C (p.Gly359Ala)
19g.12650003C>TCA9226166MAN2B1c.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
19g.12650004C>ACA404242944MAN2B1c.2176G>T (p.Gly726Trp)
c.2173G>T (p.Gly725Trp)
n.2766G>T
c.2179G>T (p.Gly727Trp)
c.1075G>T (p.Gly359Trp)
19g.12650004C>GCA404242945MAN2B1c.2176G>C (p.Gly726Arg)
c.2173G>C (p.Gly725Arg)
n.2766G>C
c.2179G>C (p.Gly727Arg)
c.1075G>C (p.Gly359Arg)
19g.12650004C>TCA404242947MAN2B1c.2176G>A (p.Gly726Arg)
c.2173G>A (p.Gly725Arg)
n.2766G>A
c.2179G>A (p.Gly727Arg)
c.1075G>A (p.Gly359Arg)
 ClinVar
19g.12650005C>ACA404242950MAN2B1c.2175G>T (p.Trp725Cys)
c.2172G>T (p.Trp724Cys)
n.2765G>T
c.2178G>T (p.Trp726Cys)
c.1074G>T (p.Trp358Cys)
19g.12650005C=CA2323500034MAN2B1c.2175G= (p.Trp725=)
c.2172G= (p.Trp724=)
n.2765G=
c.2178G= (p.Trp726=)
c.1074G= (p.Trp358=)
19g.12650005C>GCA404242955MAN2B1c.2175G>C (p.Trp725Cys)
c.2172G>C (p.Trp724Cys)
n.2765G>C
c.2178G>C (p.Trp726Cys)
c.1074G>C (p.Trp358Cys)
19g.12650005C>TCA404242952MAN2B1c.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
19g.12650006C>ACA404242957MAN2B1c.2174G>T (p.Trp725Leu)
c.2171G>T (p.Trp724Leu)
n.2764G>T
c.2177G>T (p.Trp726Leu)
c.1073G>T (p.Trp358Leu)
19g.12650006C=CA2323500035MAN2B1c.2174G= (p.Trp725=)
c.2171G= (p.Trp724=)
n.2764G=
c.2177G= (p.Trp726=)
c.1073G= (p.Trp358=)
19g.12650006C>GCA404242963MAN2B1c.2174G>C (p.Trp725Ser)
c.2171G>C (p.Trp724Ser)
n.2764G>C
c.2177G>C (p.Trp726Ser)
c.1073G>C (p.Trp358Ser)
19g.12650006C>TCA404242960MAN2B1c.2174G>A (p.Trp725Ter)
c.2171G>A (p.Trp724Ter)
n.2764G>A
c.2177G>A (p.Trp726Ter)
c.1073G>A (p.Trp358Ter)
 ClinVar dbSNP
19g.12650007A>CCA404242966MAN2B1c.2173T>G (p.Trp725Gly)
c.2170T>G (p.Trp724Gly)
n.2763T>G
c.2176T>G (p.Trp726Gly)
c.1072T>G (p.Trp358Gly)
19g.12650007A>GCA404242968MAN2B1c.2173T>C (p.Trp725Arg)
c.2170T>C (p.Trp724Arg)
n.2763T>C
c.2176T>C (p.Trp726Arg)
c.1072T>C (p.Trp358Arg)
19g.12650007A>TCA404242969MAN2B1c.2173T>A (p.Trp725Arg)
c.2170T>A (p.Trp724Arg)
n.2763T>A
c.2176T>A (p.Trp726Arg)
c.1072T>A (p.Trp358Arg)
19g.12650008G>ACA505770994MAN2B1c.2172C>T (p.Thr724=)
c.2169C>T (p.Thr723=)
n.2762C>T
c.2175C>T (p.Thr725=)
c.1071C>T (p.Thr357=)
 gnomAD v4
19g.12650008G>CCA505770995MAN2B1c.2172C>G (p.Thr724=)
c.2169C>G (p.Thr723=)
n.2762C>G
c.2175C>G (p.Thr725=)
c.1071C>G (p.Thr357=)
 gnomAD v4
19g.12650008G>TCA505770996MAN2B1c.2172C>A (p.Thr724=)
c.2169C>A (p.Thr723=)
n.2762C>A
c.2175C>A (p.Thr725=)
c.1071C>A (p.Thr357=)
19g.12650009G>ACA9226167MAN2B1c.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
19g.12650009G>CCA404242974MAN2B1c.2171C>G (p.Thr724Ser)
c.2168C>G (p.Thr723Ser)
n.2761C>G
c.2174C>G (p.Thr725Ser)
c.1070C>G (p.Thr357Ser)
19g.12650009G=CA2323500036MAN2B1c.2171C= (p.Thr724=)
c.2168C= (p.Thr723=)
n.2761C=
c.2174C= (p.Thr725=)
c.1070C= (p.Thr357=)
19g.12650009G>TCA404242976MAN2B1c.2171C>A (p.Thr724Asn)
c.2168C>A (p.Thr723Asn)
n.2761C>A
c.2174C>A (p.Thr725Asn)
c.1070C>A (p.Thr357Asn)
19g.12650010T>ACA404242979MAN2B1c.2170A>T (p.Thr724Ser)
c.2167A>T (p.Thr723Ser)
n.2760A>T
c.2173A>T (p.Thr725Ser)
c.1069A>T (p.Thr357Ser)
19g.12650010T>CCA404242981MAN2B1c.2170A>G (p.Thr724Ala)
c.2167A>G (p.Thr723Ala)
n.2760A>G
c.2173A>G (p.Thr725Ala)
c.1069A>G (p.Thr357Ala)
19g.12650010T>GCA404242982MAN2B1c.2170A>C (p.Thr724Pro)
c.2167A>C (p.Thr723Pro)
n.2760A>C
c.2173A>C (p.Thr725Pro)
c.1069A>C (p.Thr357Pro)
19g.12650011G>ACA505770998MAN2B1c.2169C>T (p.Asp723=)
c.2166C>T (p.Asp722=)
n.2759C>T
c.2172C>T (p.Asp724=)
c.1068C>T (p.Asp356=)
 ClinVar dbSNP
19g.12650011G>CCA404242983MAN2B1c.2169C>G (p.Asp723Glu)
c.2166C>G (p.Asp722Glu)
n.2759C>G
c.2172C>G (p.Asp724Glu)
c.1068C>G (p.Asp356Glu)
19g.12650011G>TCA404242984MAN2B1c.2169C>A (p.Asp723Glu)
c.2166C>A (p.Asp722Glu)
n.2759C>A
c.2172C>A (p.Asp724Glu)
c.1068C>A (p.Asp356Glu)
19g.12650012T>ACA404242989MAN2B1c.2168A>T (p.Asp723Val)
c.2165A>T (p.Asp722Val)
n.2758A>T
c.2171A>T (p.Asp724Val)
c.1067A>T (p.Asp356Val)
19g.12650012T>CCA404242987MAN2B1c.2168A>G (p.Asp723Gly)
c.2165A>G (p.Asp722Gly)
n.2758A>G
c.2171A>G (p.Asp724Gly)
c.1067A>G (p.Asp356Gly)
19g.12650012T>GCA404242985MAN2B1c.2168A>C (p.Asp723Ala)
c.2165A>C (p.Asp722Ala)
n.2758A>C
c.2171A>C (p.Asp724Ala)
c.1067A>C (p.Asp356Ala)
19g.12650013C>ACA404242991MAN2B1c.2167G>T (p.Asp723Tyr)
c.2164G>T (p.Asp722Tyr)
n.2757G>T
c.2170G>T (p.Asp724Tyr)
c.1066G>T (p.Asp356Tyr)
19g.12650013C=CA2323500037MAN2B1c.2167G= (p.Asp723=)
c.2164G= (p.Asp722=)
n.2757G=
c.2170G= (p.Asp724=)
c.1066G= (p.Asp356=)
19g.12650013C>GCA404242994MAN2B1c.2167G>C (p.Asp723His)
c.2164G>C (p.Asp722His)
n.2757G>C
c.2170G>C (p.Asp724His)
c.1066G>C (p.Asp356His)
19g.12650013C>TCA9226168MAN2B1c.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
19g.12650014G>ACA9226169MAN2B1c.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
19g.12650014G>CCA505771004MAN2B1c.2166C>G (p.Gly722=)
c.2163C>G (p.Gly721=)
n.2756C>G
c.2169C>G (p.Gly723=)
c.1065C>G (p.Gly355=)
19g.12650014G=CA2323500038MAN2B1c.2166C= (p.Gly722=)
c.2163C= (p.Gly721=)
n.2756C=
c.2169C= (p.Gly723=)
c.1065C= (p.Gly355=)
19g.12650014G>TCA505771003MAN2B1c.2166C>A (p.Gly722=)
c.2163C>A (p.Gly721=)
n.2756C>A
c.2169C>A (p.Gly723=)
c.1065C>A (p.Gly355=)
19g.12650015C>ACA404243001MAN2B1c.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)
19g.12650015C>GCA404243002MAN2B1c.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)
19g.12650015C>TCA404243005MAN2B1c.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)
19g.12650015_12650024delCA913015544MAN2B1c.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)
19g.12650015_12650024delinsCTGTACCCAACA2323500039MAN2B1c.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)
19g.12650016T>ACA404243011MAN2B1c.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)
19g.12650016T>CCA404243012MAN2B1c.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
19g.12650016T>GCA404243013MAN2B1c.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)
19g.12650018_12650026delCA658824629MAN2B1c.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
19g.12650018T>CCA2323500041MAN2B1c.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
19g.12650018T=CA2323500040MAN2B1c.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=)
19g.12650020C>ACA645607533MAN2B1c.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
19g.12650020C>TCA2582718670MAN2B1c.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
19g.12650022C>ACA2697556356MAN2B1c.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
19g.12650022C=CA2323500042MAN2B1c.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=)
19g.12650022C>TCA9226170MAN2B1c.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
19g.12650023A=CA2323500043MAN2B1c.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=)
19g.12650023A>CCA2582718671MAN2B1c.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
19g.12650023A>TCA9226171MAN2B1c.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
19g.12650024A>GCA2573156075MAN2B1c.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
19g.12650025T>CCA632119553MAN2B1c.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
19g.12650025T=CA2323500044MAN2B1c.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=)
19g.12650026G>CCA9226172MAN2B1c.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
19g.12650026G=CA2323500045MAN2B1c.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=)
19g.12650028G>ACA632119554MAN2B1c.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
19g.12650028G>CCA9226173MAN2B1c.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
19g.12650028G=CA2323500046MAN2B1c.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=)
19g.12650028G>TCA2323500047MAN2B1c.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
19g.12650031G>ACA2582718672MAN2B1c.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
19g.12650032G>ACA9226174MAN2B1c.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
19g.12650032G=CA2323500048MAN2B1c.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=)
19g.12650033C>TCA2576635004MAN2B1c.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)
19g.12650035_12650036delinsAGCA2323500049MAN2B1c.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)
19g.12650036G>ACA2582718673MAN2B1c.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
19g.12650036G>TCA2582718674MAN2B1c.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
19g.12650037delCA2323500050MAN2B1c.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
19g.12650042G>ACA9226175MAN2B1c.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
19g.12650042G>CCA2323500052MAN2B1c.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
19g.12650042G=CA2323500051MAN2B1c.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=)
19g.12650042G>TCA2576635005MAN2B1c.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
19g.12650043A>GCA2582718675MAN2B1c.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
19g.12650044G>ACA2582718676MAN2B1c.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
19g.12650045C>ACA2582718677MAN2B1c.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
19g.12650048T>CCA9226176MAN2B1c.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
19g.12650048T>GCA2323500054MAN2B1c.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
19g.12650048T=CA2323500053MAN2B1c.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=)
19g.12650049G>CCA2323500056MAN2B1c.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
19g.12650049G=CA2323500055MAN2B1c.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=)
19g.12650050G>ACA9226177MAN2B1c.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
19g.12650050G=CA2323500057MAN2B1c.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=)
19g.12650051A>TCA2582718678MAN2B1c.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
19g.12650052dupCA2582718679MAN2B1c.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
19g.12650053A=CA2323500058MAN2B1c.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=)
19g.12650053A>GCA9226178MAN2B1c.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
19g.12650055A=CA2323500059MAN2B1c.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=)
19g.12650055A>CCA2323500060MAN2B1c.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

Number of alleles fetched