Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.12650142G>ACA505770973MAN2B1c.2127C>T (p.His709=)
c.2124C>T (p.His708=)
n.2717C>T
c.2130C>T (p.His710=)
c.1026C>T (p.His342=)
 ClinVar dbSNP gnomAD v4
19g.12650142G>CCA404243258MAN2B1c.2127C>G (p.His709Gln)
c.2124C>G (p.His708Gln)
n.2717C>G
c.2130C>G (p.His710Gln)
c.1026C>G (p.His342Gln)
19g.12650142G=CA2323500101MAN2B1c.2127C= (p.His709=)
c.2124C= (p.His708=)
n.2717C=
c.2130C= (p.His710=)
c.1026C= (p.His342=)
19g.12650142G>TCA404243259MAN2B1c.2127C>A (p.His709Gln)
c.2124C>A (p.His708Gln)
n.2717C>A
c.2130C>A (p.His710Gln)
c.1026C>A (p.His342Gln)
19g.12650143_12650144delCA2695198134MAN2B1c.2126_2127del (p.His709ProfsTer25)
c.2123_2124del (p.His708ProfsTer25)
n.2716_2717del
c.2129_2130del (p.His710ProfsTer25)
c.1025_1026del (p.His342ProfsTer25)
 ClinVar
19g.12650143T>ACA404243262MAN2B1c.2126A>T (p.His709Leu)
c.2123A>T (p.His708Leu)
n.2716A>T
c.2129A>T (p.His710Leu)
c.1025A>T (p.His342Leu)
19g.12650143T>CCA404243263MAN2B1c.2126A>G (p.His709Arg)
c.2123A>G (p.His708Arg)
n.2716A>G
c.2129A>G (p.His710Arg)
c.1025A>G (p.His342Arg)
19g.12650143T>GCA404243264MAN2B1c.2126A>C (p.His709Pro)
c.2123A>C (p.His708Pro)
n.2716A>C
c.2129A>C (p.His710Pro)
c.1025A>C (p.His342Pro)
19g.12650144G>ACA9226194MAN2B1c.2125C>T (p.His709Tyr)
c.2122C>T (p.His708Tyr)
n.2715C>T
c.2128C>T (p.His710Tyr)
c.1024C>T (p.His342Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.12650144G>CCA404243268MAN2B1c.2125C>G (p.His709Asp)
c.2122C>G (p.His708Asp)
n.2715C>G
c.2128C>G (p.His710Asp)
c.1024C>G (p.His342Asp)
19g.12650144G=CA2323500102MAN2B1c.2125C= (p.His709=)
c.2122C= (p.His708=)
n.2715C=
c.2128C= (p.His710=)
c.1024C= (p.His342=)
19g.12650144G>TCA404243273MAN2B1c.2125C>A (p.His709Asn)
c.2122C>A (p.His708Asn)
n.2715C>A
c.2128C>A (p.His710Asn)
c.1024C>A (p.His342Asn)
19g.12650145C>ACA505770976MAN2B1c.2124G>T (p.Arg708=)
c.2121G>T (p.Arg707=)
n.2714G>T
c.2127G>T (p.Arg709=)
c.1023G>T (p.Arg341=)
19g.12650145C>GCA505770977MAN2B1c.2124G>C (p.Arg708=)
c.2121G>C (p.Arg707=)
n.2714G>C
c.2127G>C (p.Arg709=)
c.1023G>C (p.Arg341=)
 gnomAD v4
19g.12650145C>TCA505770978MAN2B1c.2124G>A (p.Arg708=)
c.2121G>A (p.Arg707=)
n.2714G>A
c.2127G>A (p.Arg709=)
c.1023G>A (p.Arg341=)
19g.12650146C>ACA404243275MAN2B1c.2123G>T (p.Arg708Leu)
c.2120G>T (p.Arg707Leu)
n.2713G>T
c.2126G>T (p.Arg709Leu)
c.1022G>T (p.Arg341Leu)
19g.12650146C=CA2323500103MAN2B1c.2123G= (p.Arg708=)
c.2120G= (p.Arg707=)
n.2713G=
c.2126G= (p.Arg709=)
c.1022G= (p.Arg341=)
19g.12650146C>GCA404243278MAN2B1c.2123G>C (p.Arg708Pro)
c.2120G>C (p.Arg707Pro)
n.2713G>C
c.2126G>C (p.Arg709Pro)
c.1022G>C (p.Arg341Pro)
19g.12650146C>TCA9226195MAN2B1c.2123G>A (p.Arg708Gln)
c.2120G>A (p.Arg707Gln)
n.2713G>A
c.2126G>A (p.Arg709Gln)
c.1022G>A (p.Arg341Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.12650147G>ACA9226196MAN2B1c.2122C>T (p.Arg708Trp)
c.2119C>T (p.Arg707Trp)
n.2712C>T
c.2125C>T (p.Arg709Trp)
c.1021C>T (p.Arg341Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12650147G>CCA404243283MAN2B1c.2122C>G (p.Arg708Gly)
c.2119C>G (p.Arg707Gly)
n.2712C>G
c.2125C>G (p.Arg709Gly)
c.1021C>G (p.Arg341Gly)
19g.12650147G=CA2323500104MAN2B1c.2122C= (p.Arg708=)
c.2119C= (p.Arg707=)
n.2712C=
c.2125C= (p.Arg709=)
c.1021C= (p.Arg341=)
19g.12650147G>TCA505770980MAN2B1c.2122C>A (p.Arg708=)
c.2119C>A (p.Arg707=)
n.2712C>A
c.2125C>A (p.Arg709=)
c.1021C>A (p.Arg341=)
 dbSNP gnomAD v2
19g.12650148C>ACA404243285MAN2B1c.2121G>T (p.Gln707His)
c.2118G>T (p.Gln706His)
n.2711G>T
c.2124G>T (p.Gln708His)
c.1020G>T (p.Gln340His)
19g.12650148C=CA2323500105MAN2B1c.2121G= (p.Gln707=)
c.2118G= (p.Gln706=)
n.2711G=
c.2124G= (p.Gln708=)
c.1020G= (p.Gln340=)
19g.12650148C>GCA404243288MAN2B1c.2121G>C (p.Gln707His)
c.2118G>C (p.Gln706His)
n.2711G>C
c.2124G>C (p.Gln708His)
c.1020G>C (p.Gln340His)
19g.12650148C>TCA505770981MAN2B1c.2121G>A (p.Gln707=)
c.2118G>A (p.Gln706=)
n.2711G>A
c.2124G>A (p.Gln708=)
c.1020G>A (p.Gln340=)
 ClinVar dbSNP gnomAD v4
19g.12650151_12650155dupCA2739276539MAN2B1c.2117_2121dup (p.Arg708AspfsTer7)
c.2114_2118dup (p.Arg707AspfsTer7)
n.2707_2711dup
c.2120_2124dup (p.Arg709AspfsTer7)
c.1016_1020dup (p.Arg341AspfsTer7)
 ClinVar
19g.12650149T>ACA404243292MAN2B1c.2120A>T (p.Gln707Leu)
c.2117A>T (p.Gln706Leu)
n.2710A>T
c.2123A>T (p.Gln708Leu)
c.1019A>T (p.Gln340Leu)
19g.12650149T>CCA404243294MAN2B1c.2120A>G (p.Gln707Arg)
c.2117A>G (p.Gln706Arg)
n.2710A>G
c.2123A>G (p.Gln708Arg)
c.1019A>G (p.Gln340Arg)
19g.12650149T>GCA404243297MAN2B1c.2120A>C (p.Gln707Pro)
c.2117A>C (p.Gln706Pro)
n.2710A>C
c.2123A>C (p.Gln708Pro)
c.1019A>C (p.Gln340Pro)
19g.12650150G>ACA404243300MAN2B1c.2119C>T (p.Gln707Ter)
c.2116C>T (p.Gln706Ter)
n.2709C>T
c.2122C>T (p.Gln708Ter)
c.1018C>T (p.Gln340Ter)
19g.12650150G>CCA404243302MAN2B1c.2119C>G (p.Gln707Glu)
c.2116C>G (p.Gln706Glu)
n.2709C>G
c.2122C>G (p.Gln708Glu)
c.1018C>G (p.Gln340Glu)
19g.12650150G>TCA404243304MAN2B1c.2119C>A (p.Gln707Lys)
c.2116C>A (p.Gln706Lys)
n.2709C>A
c.2122C>A (p.Gln708Lys)
c.1018C>A (p.Gln340Lys)
19g.12650151T>ACA505770988MAN2B1c.2118A>T (p.Gly706=)
c.2115A>T (p.Gly705=)
n.2708A>T
c.2121A>T (p.Gly707=)
c.1017A>T (p.Gly339=)
19g.12650151T>CCA505770989MAN2B1c.2118A>G (p.Gly706=)
c.2115A>G (p.Gly705=)
n.2708A>G
c.2121A>G (p.Gly707=)
c.1017A>G (p.Gly339=)
 COSMIC
19g.12650151T>GCA505770990MAN2B1c.2118A>C (p.Gly706=)
c.2115A>C (p.Gly705=)
n.2708A>C
c.2121A>C (p.Gly707=)
c.1017A>C (p.Gly339=)
19g.12650152C>ACA404243306MAN2B1c.2117G>T (p.Gly706Val)
c.2114G>T (p.Gly705Val)
n.2707G>T
c.2120G>T (p.Gly707Val)
c.1016G>T (p.Gly339Val)
19g.12650152C=CA2323500106MAN2B1c.2117G= (p.Gly706=)
c.2114G= (p.Gly705=)
n.2707G=
c.2120G= (p.Gly707=)
c.1016G= (p.Gly339=)
19g.12650152C>GCA404243307MAN2B1c.2117G>C (p.Gly706Ala)
c.2114G>C (p.Gly705Ala)
n.2707G>C
c.2120G>C (p.Gly707Ala)
c.1016G>C (p.Gly339Ala)
19g.12650152C>TCA404243310MAN2B1c.2117G>A (p.Gly706Glu)
c.2114G>A (p.Gly705Glu)
n.2707G>A
c.2120G>A (p.Gly707Glu)
c.1016G>A (p.Gly339Glu)
 dbSNP gnomAD v4
19g.12650153C>ACA404243314MAN2B1c.2116G>T (p.Gly706Ter)
c.2113G>T (p.Gly705Ter)
n.2706G>T
c.2119G>T (p.Gly707Ter)
c.1015G>T (p.Gly339Ter)
19g.12650153C=CA2323500107MAN2B1c.2116G= (p.Gly706=)
c.2113G= (p.Gly705=)
n.2706G=
c.2119G= (p.Gly707=)
c.1015G= (p.Gly339=)
19g.12650153C>GCA404243316MAN2B1c.2116G>C (p.Gly706Arg)
c.2113G>C (p.Gly705Arg)
n.2706G>C
c.2119G>C (p.Gly707Arg)
c.1015G>C (p.Gly339Arg)
 dbSNP gnomAD v4
19g.12650153C>TCA404243317MAN2B1c.2116G>A (p.Gly706Arg)
c.2113G>A (p.Gly705Arg)
n.2706G>A
c.2119G>A (p.Gly707Arg)
c.1015G>A (p.Gly339Arg)
 dbSNP
19g.12650154T>ACA505770991MAN2B1c.2115A>T (p.Pro705=)
c.2112A>T (p.Pro704=)
n.2705A>T
c.2118A>T (p.Pro706=)
c.1014A>T (p.Pro338=)
19g.12650154T>CCA505770992MAN2B1c.2115A>G (p.Pro705=)
c.2112A>G (p.Pro704=)
n.2705A>G
c.2118A>G (p.Pro706=)
c.1014A>G (p.Pro338=)
19g.12650154T>GCA505770993MAN2B1c.2115A>C (p.Pro705=)
c.2112A>C (p.Pro704=)
n.2705A>C
c.2118A>C (p.Pro706=)
c.1014A>C (p.Pro338=)
19g.12650154_12650155delCA913015546MAN2B1c.2114_2115del (p.Pro705ArgfsTer29)
c.2111_2112del (p.Pro704ArgfsTer29)
n.2704_2705del
c.2117_2118del (p.Pro706ArgfsTer29)
c.1013_1014del (p.Pro338ArgfsTer29)
19g.12650154_12650155delinsTGCA2323500108MAN2B1c.2114_2115delinsCA (p.Pro705=)
c.2111_2112delinsCA (p.Pro704=)
n.2704_2705delinsCA
c.2117_2118delinsCA (p.Pro706=)
c.1013_1014delinsCA (p.Pro338=)
19g.12650155G>ACA404243325MAN2B1c.2114C>T (p.Pro705Leu)
c.2111C>T (p.Pro704Leu)
n.2704C>T
c.2117C>T (p.Pro706Leu)
c.1013C>T (p.Pro338Leu)
19g.12650155G>CCA404243320MAN2B1c.2114C>G (p.Pro705Arg)
c.2111C>G (p.Pro704Arg)
n.2704C>G
c.2117C>G (p.Pro706Arg)
c.1013C>G (p.Pro338Arg)
19g.12650155G>TCA404243322MAN2B1c.2114C>A (p.Pro705Gln)
c.2111C>A (p.Pro704Gln)
n.2704C>A
c.2117C>A (p.Pro706Gln)
c.1013C>A (p.Pro338Gln)
 COSMIC
19g.12650155_12650156delinsTACA2580096694MAN2B1c.2113_2114delinsTA (p.Pro705Ter)
c.2110_2111delinsTA (p.Pro704Ter)
n.2703_2704delinsTA
c.2116_2117delinsTA (p.Pro706Ter)
c.1012_1013delinsTA (p.Pro338Ter)
 ClinVar
19g.12650157delCA658824631MAN2B1c.2114del (p.Pro705GlnfsTer8)
c.2111del (p.Pro704GlnfsTer8)
n.2704del
c.2117del (p.Pro706GlnfsTer8)
c.1013del (p.Pro338GlnfsTer8)
 ClinVar dbSNP
19g.12650156G>ACA404243328MAN2B1c.2113C>T (p.Pro705Ser)
c.2110C>T (p.Pro704Ser)
n.2703C>T
c.2116C>T (p.Pro706Ser)
c.1012C>T (p.Pro338Ser)
19g.12650156G>CCA404243330MAN2B1c.2113C>G (p.Pro705Ala)
c.2110C>G (p.Pro704Ala)
n.2703C>G
c.2116C>G (p.Pro706Ala)
c.1012C>G (p.Pro338Ala)
 dbSNP gnomAD v3 gnomAD v4
19g.12650156G=CA2323500109MAN2B1c.2113C= (p.Pro705=)
c.2110C= (p.Pro704=)
n.2703C=
c.2116C= (p.Pro706=)
c.1012C= (p.Pro338=)
19g.12650156G>TCA404243332MAN2B1c.2113C>A (p.Pro705Thr)
c.2110C>A (p.Pro704Thr)
n.2703C>A
c.2116C>A (p.Pro706Thr)
c.1012C>A (p.Pro338Thr)
 dbSNP gnomAD v2 gnomAD v4
19g.12650157G>ACA505770997MAN2B1c.2112C>T (p.Tyr704=)
c.2109C>T (p.Tyr703=)
n.2702C>T
c.2115C>T (p.Tyr705=)
c.1011C>T (p.Tyr337=)
 ClinVar dbSNP gnomAD v4
19g.12650157G>CCA404243334MAN2B1c.2112C>G (p.Tyr704Ter)
c.2109C>G (p.Tyr703Ter)
n.2702C>G
c.2115C>G (p.Tyr705Ter)
c.1011C>G (p.Tyr337Ter)
 gnomAD v4
19g.12650157G=CA2323500110MAN2B1c.2112C= (p.Tyr704=)
c.2109C= (p.Tyr703=)
n.2702C=
c.2115C= (p.Tyr705=)
c.1011C= (p.Tyr337=)
19g.12650157G>TCA404243336MAN2B1c.2112C>A (p.Tyr704Ter)
c.2109C>A (p.Tyr703Ter)
n.2702C>A
c.2115C>A (p.Tyr705Ter)
c.1011C>A (p.Tyr337Ter)
19g.12650158T>ACA404243340MAN2B1c.2111A>T (p.Tyr704Phe)
c.2108A>T (p.Tyr703Phe)
n.2701A>T
c.2114A>T (p.Tyr705Phe)
c.1010A>T (p.Tyr337Phe)
19g.12650158T>CCA404243342MAN2B1c.2111A>G (p.Tyr704Cys)
c.2108A>G (p.Tyr703Cys)
n.2701A>G
c.2114A>G (p.Tyr705Cys)
c.1010A>G (p.Tyr337Cys)
19g.12650158T>GCA404243343MAN2B1c.2111A>C (p.Tyr704Ser)
c.2108A>C (p.Tyr703Ser)
n.2701A>C
c.2114A>C (p.Tyr705Ser)
c.1010A>C (p.Tyr337Ser)
19g.12650159A>CCA404243346MAN2B1c.2110T>G (p.Tyr704Asp)
c.2107T>G (p.Tyr703Asp)
n.2700T>G
c.2113T>G (p.Tyr705Asp)
c.1009T>G (p.Tyr337Asp)
19g.12650159A>GCA404243348MAN2B1c.2110T>C (p.Tyr704His)
c.2107T>C (p.Tyr703His)
n.2700T>C
c.2113T>C (p.Tyr705His)
c.1009T>C (p.Tyr337His)
19g.12650159A>TCA404243351MAN2B1c.2110T>A (p.Tyr704Asn)
c.2107T>A (p.Tyr703Asn)
n.2700T>A
c.2113T>A (p.Tyr705Asn)
c.1009T>A (p.Tyr337Asn)
19g.12650160C>ACA505770999MAN2B1c.2109G>T (p.Leu703=)
c.2106G>T (p.Leu702=)
n.2699G>T
c.2112G>T (p.Leu704=)
c.1008G>T (p.Leu336=)
19g.12650160C>GCA505771000MAN2B1c.2109G>C (p.Leu703=)
c.2106G>C (p.Leu702=)
n.2699G>C
c.2112G>C (p.Leu704=)
c.1008G>C (p.Leu336=)
 ClinVar
19g.12650160C>TCA505771001MAN2B1c.2109G>A (p.Leu703=)
c.2106G>A (p.Leu702=)
n.2699G>A
c.2112G>A (p.Leu704=)
c.1008G>A (p.Leu336=)
 ClinVar dbSNP
19g.12650161A>CCA404243355MAN2B1c.2108T>G (p.Leu703Arg)
c.2105T>G (p.Leu702Arg)
n.2698T>G
c.2111T>G (p.Leu704Arg)
c.1007T>G (p.Leu336Arg)
19g.12650161A>GCA404243356MAN2B1c.2108T>C (p.Leu703Pro)
c.2105T>C (p.Leu702Pro)
n.2698T>C
c.2111T>C (p.Leu704Pro)
c.1007T>C (p.Leu336Pro)
 gnomAD v4
19g.12650161A>TCA404243358MAN2B1c.2108T>A (p.Leu703Gln)
c.2105T>A (p.Leu702Gln)
n.2698T>A
c.2111T>A (p.Leu704Gln)
c.1007T>A (p.Leu336Gln)
19g.12650162G>ACA505771002MAN2B1c.2107C>T (p.Leu703=)
c.2104C>T (p.Leu702=)
n.2697C>T
c.2110C>T (p.Leu704=)
c.1006C>T (p.Leu336=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.12650162G>CCA404243361MAN2B1c.2107C>G (p.Leu703Val)
c.2104C>G (p.Leu702Val)
n.2697C>G
c.2110C>G (p.Leu704Val)
c.1006C>G (p.Leu336Val)
19g.12650162G=CA2323500111MAN2B1c.2107C= (p.Leu703=)
c.2104C= (p.Leu702=)
n.2697C=
c.2110C= (p.Leu704=)
c.1006C= (p.Leu336=)
19g.12650162G>TCA404243362MAN2B1c.2107C>A (p.Leu703Met)
c.2104C>A (p.Leu702Met)
n.2697C>A
c.2110C>A (p.Leu704Met)
c.1006C>A (p.Leu336Met)
19g.12650163G>ACA505771006MAN2B1c.2106C>T (p.Arg702=)
c.2103C>T (p.Arg701=)
n.2696C>T
c.2109C>T (p.Arg703=)
c.1005C>T (p.Arg335=)
19g.12650163G>CCA505771007MAN2B1c.2106C>G (p.Arg702=)
c.2103C>G (p.Arg701=)
n.2696C>G
c.2109C>G (p.Arg703=)
c.1005C>G (p.Arg335=)
19g.12650163G>TCA505771005MAN2B1c.2106C>A (p.Arg702=)
c.2103C>A (p.Arg701=)
n.2696C>A
c.2109C>A (p.Arg703=)
c.1005C>A (p.Arg335=)
19g.12650164C>ACA404243365MAN2B1c.2105G>T (p.Arg702Leu)
c.2102G>T (p.Arg701Leu)
n.2695G>T
c.2108G>T (p.Arg703Leu)
c.1004G>T (p.Arg335Leu)
19g.12650164C=CA2323500112MAN2B1c.2105G= (p.Arg702=)
c.2102G= (p.Arg701=)
n.2695G=
c.2108G= (p.Arg703=)
c.1004G= (p.Arg335=)
19g.12650164C>GCA404243368MAN2B1c.2105G>C (p.Arg702Pro)
c.2102G>C (p.Arg701Pro)
n.2695G>C
c.2108G>C (p.Arg703Pro)
c.1004G>C (p.Arg335Pro)
19g.12650164C>TCA9226197MAN2B1c.2105G>A (p.Arg702His)
c.2102G>A (p.Arg701His)
n.2695G>A
c.2108G>A (p.Arg703His)
c.1004G>A (p.Arg335His)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.12650165G>ACA305462944MAN2B1c.2104C>T (p.Arg702Cys)
c.2101C>T (p.Arg701Cys)
n.2694C>T
c.2107C>T (p.Arg703Cys)
c.1003C>T (p.Arg335Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.12650165G>CCA404243375MAN2B1c.2104C>G (p.Arg702Gly)
c.2101C>G (p.Arg701Gly)
n.2694C>G
c.2107C>G (p.Arg703Gly)
c.1003C>G (p.Arg335Gly)
19g.12650165G=CA2323500113MAN2B1c.2104C= (p.Arg702=)
c.2101C= (p.Arg701=)
n.2694C=
c.2107C= (p.Arg703=)
c.1003C= (p.Arg335=)
19g.12650165G>TCA404243377MAN2B1c.2104C>A (p.Arg702Ser)
c.2101C>A (p.Arg701Ser)
n.2694C>A
c.2107C>A (p.Arg703Ser)
c.1003C>A (p.Arg335Ser)
19g.12650166A>CCA505771010MAN2B1c.2103T>G (p.Val701=)
c.2100T>G (p.Val700=)
n.2693T>G
c.2106T>G (p.Val702=)
c.1002T>G (p.Val334=)
19g.12650166A>GCA505771008MAN2B1c.2103T>C (p.Val701=)
c.2100T>C (p.Val700=)
n.2693T>C
c.2106T>C (p.Val702=)
c.1002T>C (p.Val334=)
19g.12650166A>TCA505771009MAN2B1c.2103T>A (p.Val701=)
c.2100T>A (p.Val700=)
n.2693T>A
c.2106T>A (p.Val702=)
c.1002T>A (p.Val334=)
19g.12650167A>CCA404243379MAN2B1c.2102T>G (p.Val701Gly)
c.2099T>G (p.Val700Gly)
n.2692T>G
c.2105T>G (p.Val702Gly)
c.1001T>G (p.Val334Gly)
19g.12650167A>GCA404243381MAN2B1c.2102T>C (p.Val701Ala)
c.2099T>C (p.Val700Ala)
n.2692T>C
c.2105T>C (p.Val702Ala)
c.1001T>C (p.Val334Ala)
19g.12650167A>TCA404243386MAN2B1c.2102T>A (p.Val701Asp)
c.2099T>A (p.Val700Asp)
n.2692T>A
c.2105T>A (p.Val702Asp)
c.1001T>A (p.Val334Asp)
19g.12650168C>ACA9226199MAN2B1c.2101G>T (p.Val701Phe)
c.2098G>T (p.Val700Phe)
n.2691G>T
c.2104G>T (p.Val702Phe)
c.1000G>T (p.Val334Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12650168C=CA2323500114MAN2B1c.2101G= (p.Val701=)
c.2098G= (p.Val700=)
n.2691G=
c.2104G= (p.Val702=)
c.1000G= (p.Val334=)
19g.12650168C>GCA404243390MAN2B1c.2101G>C (p.Val701Leu)
c.2098G>C (p.Val700Leu)
n.2691G>C
c.2104G>C (p.Val702Leu)
c.1000G>C (p.Val334Leu)
19g.12650168C>TCA9226198MAN2B1c.2101G>A (p.Val701Ile)
c.2098G>A (p.Val700Ile)
n.2691G>A
c.2104G>A (p.Val702Ile)
c.1000G>A (p.Val334Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12650169C>ACA505771012MAN2B1c.2100G>T (p.Val700=)
c.2097G>T (p.Val699=)
n.2690G>T
c.2103G>T (p.Val701=)
c.999G>T (p.Val333=)
 dbSNP
19g.12650169C=CA2323500115MAN2B1c.2100G= (p.Val700=)
c.2097G= (p.Val699=)
n.2690G=
c.2103G= (p.Val701=)
c.999G= (p.Val333=)
19g.12650169C>GCA505771014MAN2B1c.2100G>C (p.Val700=)
c.2097G>C (p.Val699=)
n.2690G>C
c.2103G>C (p.Val701=)
c.999G>C (p.Val333=)
19g.12650169C>TCA505771013MAN2B1c.2100G>A (p.Val700=)
c.2097G>A (p.Val699=)
n.2690G>A
c.2103G>A (p.Val701=)
c.999G>A (p.Val333=)
19g.12650170A>CCA404243395MAN2B1c.2099T>G (p.Val700Gly)
c.2096T>G (p.Val699Gly)
n.2689T>G
c.2102T>G (p.Val701Gly)
c.998T>G (p.Val333Gly)
19g.12650170A>GCA404243399MAN2B1c.2099T>C (p.Val700Ala)
c.2096T>C (p.Val699Ala)
n.2689T>C
c.2102T>C (p.Val701Ala)
c.998T>C (p.Val333Ala)
19g.12650170A>TCA404243397MAN2B1c.2099T>A (p.Val700Glu)
c.2096T>A (p.Val699Glu)
n.2689T>A
c.2102T>A (p.Val701Glu)
c.998T>A (p.Val333Glu)
19g.12650171C>ACA404243402MAN2B1c.2098G>T (p.Val700Leu)
c.2095G>T (p.Val699Leu)
n.2688G>T
c.2101G>T (p.Val701Leu)
c.997G>T (p.Val333Leu)
19g.12650171C>GCA404243408MAN2B1c.2098G>C (p.Val700Leu)
c.2095G>C (p.Val699Leu)
n.2688G>C
c.2101G>C (p.Val701Leu)
c.997G>C (p.Val333Leu)
19g.12650171C>TCA404243406MAN2B1c.2098G>A (p.Val700Met)
c.2095G>A (p.Val699Met)
n.2688G>A
c.2101G>A (p.Val701Met)
c.997G>A (p.Val333Met)
19g.12650172C>ACA404243411MAN2B1c.2097G>T (p.Gln699His)
c.2094G>T (p.Gln698His)
n.2687G>T
c.2100G>T (p.Gln700His)
c.996G>T (p.Gln332His)
 gnomAD v4
19g.12650172C=CA2323500116MAN2B1c.2097G= (p.Gln699=)
c.2094G= (p.Gln698=)
n.2687G=
c.2100G= (p.Gln700=)
c.996G= (p.Gln332=)
19g.12650172C>GCA9226200MAN2B1c.2097G>C (p.Gln699His)
c.2094G>C (p.Gln698His)
n.2687G>C
c.2100G>C (p.Gln700His)
c.996G>C (p.Gln332His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12650172C>TCA305462956MAN2B1c.2097G>A (p.Gln699=)
c.2094G>A (p.Gln698=)
n.2687G>A
c.2100G>A (p.Gln700=)
c.996G>A (p.Gln332=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.12650173T>ACA404243417MAN2B1c.2096A>T (p.Gln699Leu)
c.2093A>T (p.Gln698Leu)
n.2686A>T
c.2099A>T (p.Gln700Leu)
c.995A>T (p.Gln332Leu)
19g.12650173T>CCA404243418MAN2B1c.2096A>G (p.Gln699Arg)
c.2093A>G (p.Gln698Arg)
n.2686A>G
c.2099A>G (p.Gln700Arg)
c.995A>G (p.Gln332Arg)
 gnomAD v4
19g.12650173T>GCA404243420MAN2B1c.2096A>C (p.Gln699Pro)
c.2093A>C (p.Gln698Pro)
n.2686A>C
c.2099A>C (p.Gln700Pro)
c.995A>C (p.Gln332Pro)
19g.12650174G>ACA404243423MAN2B1c.2095C>T (p.Gln699Ter)
c.2092C>T (p.Gln698Ter)
n.2685C>T
c.2098C>T (p.Gln700Ter)
c.994C>T (p.Gln332Ter)
19g.12650174G>CCA404243425MAN2B1c.2095C>G (p.Gln699Glu)
c.2092C>G (p.Gln698Glu)
n.2685C>G
c.2098C>G (p.Gln700Glu)
c.994C>G (p.Gln332Glu)
19g.12650174G>TCA404243426MAN2B1c.2095C>A (p.Gln699Lys)
c.2092C>A (p.Gln698Lys)
n.2685C>A
c.2098C>A (p.Gln700Lys)
c.994C>A (p.Gln332Lys)
19g.12650175G>ACA505771015MAN2B1c.2094C>T (p.Ser698=)
c.2091C>T (p.Ser697=)
n.2684C>T
c.2097C>T (p.Ser699=)
c.993C>T (p.Ser331=)
 gnomAD v4
19g.12650175G>CCA505771016MAN2B1c.2094C>G (p.Ser698=)
c.2091C>G (p.Ser697=)
n.2684C>G
c.2097C>G (p.Ser699=)
c.993C>G (p.Ser331=)
19g.12650175G>TCA505771017MAN2B1c.2094C>A (p.Ser698=)
c.2091C>A (p.Ser697=)
n.2684C>A
c.2097C>A (p.Ser699=)
c.993C>A (p.Ser331=)
 COSMIC
19g.12650176G>ACA404243429MAN2B1c.2093C>T (p.Ser698Phe)
c.2090C>T (p.Ser697Phe)
n.2683C>T
c.2096C>T (p.Ser699Phe)
c.992C>T (p.Ser331Phe)
 dbSNP gnomAD v4 COSMIC
19g.12650176G>CCA404243431MAN2B1c.2093C>G (p.Ser698Cys)
c.2090C>G (p.Ser697Cys)
n.2683C>G
c.2096C>G (p.Ser699Cys)
c.992C>G (p.Ser331Cys)
19g.12650176G=CA2323500117MAN2B1c.2093C= (p.Ser698=)
c.2090C= (p.Ser697=)
n.2683C=
c.2096C= (p.Ser699=)
c.992C= (p.Ser331=)
19g.12650176G>TCA404243438MAN2B1c.2093C>A (p.Ser698Tyr)
c.2090C>A (p.Ser697Tyr)
n.2683C>A
c.2096C>A (p.Ser699Tyr)
c.992C>A (p.Ser331Tyr)
19g.12650177A>CCA404243448MAN2B1c.2092T>G (p.Ser698Ala)
c.2089T>G (p.Ser697Ala)
n.2682T>G
c.2095T>G (p.Ser699Ala)
c.991T>G (p.Ser331Ala)
 gnomAD v4
19g.12650177A>GCA404243447MAN2B1c.2092T>C (p.Ser698Pro)
c.2089T>C (p.Ser697Pro)
n.2682T>C
c.2095T>C (p.Ser699Pro)
c.991T>C (p.Ser331Pro)
19g.12650177A>TCA404243443MAN2B1c.2092T>A (p.Ser698Thr)
c.2089T>A (p.Ser697Thr)
n.2682T>A
c.2095T>A (p.Ser699Thr)
c.991T>A (p.Ser331Thr)
19g.12650178A=CA2323500118MAN2B1c.2091T= (p.Cys697=)
c.2088T= (p.Cys696=)
n.2681T=
c.2094T= (p.Cys698=)
c.990T= (p.Cys330=)
19g.12650178A>CCA404243449MAN2B1c.2091T>G (p.Cys697Trp)
c.2088T>G (p.Cys696Trp)
n.2681T>G
c.2094T>G (p.Cys698Trp)
c.990T>G (p.Cys330Trp)
19g.12650178A>GCA505771018MAN2B1c.2091T>C (p.Cys697=)
c.2088T>C (p.Cys696=)
n.2681T>C
c.2094T>C (p.Cys698=)
c.990T>C (p.Cys330=)
19g.12650178A>TCA404243452MAN2B1c.2091T>A (p.Cys697Ter)
c.2088T>A (p.Cys696Ter)
n.2681T>A
c.2094T>A (p.Cys698Ter)
c.990T>A (p.Cys330Ter)
 ClinVar dbSNP
19g.12650179C>ACA404243455MAN2B1c.2090G>T (p.Cys697Phe)
c.2087G>T (p.Cys696Phe)
n.2680G>T
c.2093G>T (p.Cys698Phe)
c.989G>T (p.Cys330Phe)
19g.12650179C>GCA404243458MAN2B1c.2090G>C (p.Cys697Ser)
c.2087G>C (p.Cys696Ser)
n.2680G>C
c.2093G>C (p.Cys698Ser)
c.989G>C (p.Cys330Ser)
19g.12650179C>TCA404243460MAN2B1c.2090G>A (p.Cys697Tyr)
c.2087G>A (p.Cys696Tyr)
n.2680G>A
c.2093G>A (p.Cys698Tyr)
c.989G>A (p.Cys330Tyr)
19g.12650180A>CCA404243462MAN2B1c.2089T>G (p.Cys697Gly)
c.2086T>G (p.Cys696Gly)
n.2679T>G
c.2092T>G (p.Cys698Gly)
c.988T>G (p.Cys330Gly)
19g.12650180A>GCA404243466MAN2B1c.2089T>C (p.Cys697Arg)
c.2086T>C (p.Cys696Arg)
n.2679T>C
c.2092T>C (p.Cys698Arg)
c.988T>C (p.Cys330Arg)
19g.12650180A>TCA404243469MAN2B1c.2089T>A (p.Cys697Ser)
c.2086T>A (p.Cys696Ser)
n.2679T>A
c.2092T>A (p.Cys698Ser)
c.988T>A (p.Cys330Ser)
19g.12650181C>ACA404243470MAN2B1c.2088G>T (p.Trp696Cys)
c.2085G>T (p.Trp695Cys)
n.2678G>T
c.2091G>T (p.Trp697Cys)
c.987G>T (p.Trp329Cys)
19g.12650181C=CA2323500119MAN2B1c.2088G= (p.Trp696=)
c.2085G= (p.Trp695=)
n.2678G=
c.2091G= (p.Trp697=)
c.987G= (p.Trp329=)
19g.12650181C>GCA404243473MAN2B1c.2088G>C (p.Trp696Cys)
c.2085G>C (p.Trp695Cys)
n.2678G>C
c.2091G>C (p.Trp697Cys)
c.987G>C (p.Trp329Cys)
19g.12650181C>TCA9226201MAN2B1c.2088G>A (p.Trp696Ter)
c.2085G>A (p.Trp695Ter)
n.2678G>A
c.2091G>A (p.Trp697Ter)
c.987G>A (p.Trp329Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.12650182C>ACA404243479MAN2B1c.2087G>T (p.Trp696Leu)
c.2084G>T (p.Trp695Leu)
n.2677G>T
c.2090G>T (p.Trp697Leu)
c.986G>T (p.Trp329Leu)
 gnomAD v4
19g.12650182C>GCA404243481MAN2B1c.2087G>C (p.Trp696Ser)
c.2084G>C (p.Trp695Ser)
n.2677G>C
c.2090G>C (p.Trp697Ser)
c.986G>C (p.Trp329Ser)
19g.12650182C>TCA404243477MAN2B1c.2087G>A (p.Trp696Ter)
c.2084G>A (p.Trp695Ter)
n.2677G>A
c.2090G>A (p.Trp697Ter)
c.986G>A (p.Trp329Ter)
19g.12650183A>CCA404243484MAN2B1c.2086T>G (p.Trp696Gly)
c.2083T>G (p.Trp695Gly)
n.2676T>G
c.2089T>G (p.Trp697Gly)
c.985T>G (p.Trp329Gly)
19g.12650183A>GCA404243485MAN2B1c.2086T>C (p.Trp696Arg)
c.2083T>C (p.Trp695Arg)
n.2676T>C
c.2089T>C (p.Trp697Arg)
c.985T>C (p.Trp329Arg)
 gnomAD v4
19g.12650183A>TCA404243487MAN2B1c.2086T>A (p.Trp696Arg)
c.2083T>A (p.Trp695Arg)
n.2676T>A
c.2089T>A (p.Trp697Arg)
c.985T>A (p.Trp329Arg)
19g.12650184A>CCA505771021MAN2B1c.2085T>G (p.Ala695=)
c.2082T>G (p.Ala694=)
n.2675T>G
c.2088T>G (p.Ala696=)
c.984T>G (p.Ala328=)
19g.12650184A>GCA505771020MAN2B1c.2085T>C (p.Ala695=)
c.2082T>C (p.Ala694=)
n.2675T>C
c.2088T>C (p.Ala696=)
c.984T>C (p.Ala328=)
 ClinVar dbSNP
19g.12650184A>TCA505771019MAN2B1c.2085T>A (p.Ala695=)
c.2082T>A (p.Ala694=)
n.2675T>A
c.2088T>A (p.Ala696=)
c.984T>A (p.Ala328=)
19g.12650185G>ACA404243489MAN2B1c.2084C>T (p.Ala695Val)
c.2081C>T (p.Ala694Val)
n.2674C>T
c.2087C>T (p.Ala696Val)
c.983C>T (p.Ala328Val)
19g.12650185G>CCA9226202MAN2B1c.2084C>G (p.Ala695Gly)
c.2081C>G (p.Ala694Gly)
n.2674C>G
c.2087C>G (p.Ala696Gly)
c.983C>G (p.Ala328Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.12650185G=CA2323500120MAN2B1c.2084C= (p.Ala695=)
c.2081C= (p.Ala694=)
n.2674C=
c.2087C= (p.Ala696=)
c.983C= (p.Ala328=)
19g.12650185G>TCA404243494MAN2B1c.2084C>A (p.Ala695Asp)
c.2081C>A (p.Ala694Asp)
n.2674C>A
c.2087C>A (p.Ala696Asp)
c.983C>A (p.Ala328Asp)
19g.12650186C>ACA404243498MAN2B1c.2083G>T (p.Ala695Ser)
c.2080G>T (p.Ala694Ser)
n.2673G>T
c.2086G>T (p.Ala696Ser)
c.982G>T (p.Ala328Ser)
19g.12650186C>GCA404243500MAN2B1c.2083G>C (p.Ala695Pro)
c.2080G>C (p.Ala694Pro)
n.2673G>C
c.2086G>C (p.Ala696Pro)
c.982G>C (p.Ala328Pro)
19g.12650186C>TCA404243502MAN2B1c.2083G>A (p.Ala695Thr)
c.2080G>A (p.Ala694Thr)
n.2673G>A
c.2086G>A (p.Ala696Thr)
c.982G>A (p.Ala328Thr)
 gnomAD v4
19g.12650187T>ACA505771022MAN2B1c.2082A>T (p.Ser694=)
c.2079A>T (p.Ser693=)
n.2672A>T
c.2085A>T (p.Ser695=)
c.981A>T (p.Ser327=)
19g.12650187T>CCA505771023MAN2B1c.2082A>G (p.Ser694=)
c.2079A>G (p.Ser693=)
n.2672A>G
c.2085A>G (p.Ser695=)
c.981A>G (p.Ser327=)
19g.12650187T>GCA505771024MAN2B1c.2082A>C (p.Ser694=)
c.2079A>C (p.Ser693=)
n.2672A>C
c.2085A>C (p.Ser695=)
c.981A>C (p.Ser327=)
19g.12650188G>ACA404243506MAN2B1c.2081C>T (p.Ser694Leu)
c.2078C>T (p.Ser693Leu)
n.2671C>T
c.2084C>T (p.Ser695Leu)
c.980C>T (p.Ser327Leu)
 gnomAD v4
19g.12650188G>CCA404243507MAN2B1c.2081C>G (p.Ser694Ter)
c.2078C>G (p.Ser693Ter)
n.2671C>G
c.2084C>G (p.Ser695Ter)
c.980C>G (p.Ser327Ter)
19g.12650188G>TCA404243510MAN2B1c.2081C>A (p.Ser694Ter)
c.2078C>A (p.Ser693Ter)
n.2671C>A
c.2084C>A (p.Ser695Ter)
c.980C>A (p.Ser327Ter)
19g.12650188_12650190delCA2582718689MAN2B1c.2079_2081del (p.Phe693_Ser694delinsLeu)
c.2076_2078del (p.Phe692_Ser693delinsLeu)
n.2669_2671del
c.2082_2084del (p.Phe694_Ser695delinsLeu)
c.978_980del (p.Phe326_Ser327delinsLeu)
 gnomAD v4
19g.12650188_12650191delinsGAGACA2323500121MAN2B1c.2078_2081delinsTCTC (p.Phe693=)
c.2075_2078delinsTCTC (p.Phe692=)
n.2668_2671delinsTCTC
c.2081_2084delinsTCTC (p.Phe694=)
c.977_980delinsTCTC (p.Phe326=)
19g.12650189A>CCA404243518MAN2B1c.2080T>G (p.Ser694Ala)
c.2077T>G (p.Ser693Ala)
n.2670T>G
c.2083T>G (p.Ser695Ala)
c.979T>G (p.Ser327Ala)
19g.12650189A>GCA404243513MAN2B1c.2080T>C (p.Ser694Pro)
c.2077T>C (p.Ser693Pro)
n.2670T>C
c.2083T>C (p.Ser695Pro)
c.979T>C (p.Ser327Pro)
 COSMIC
19g.12650189A>TCA404243516MAN2B1c.2080T>A (p.Ser694Thr)
c.2077T>A (p.Ser693Thr)
n.2670T>A
c.2083T>A (p.Ser695Thr)
c.979T>A (p.Ser327Thr)
19g.12650191_12650193delCA9226203MAN2B1c.2078_2080del (p.Phe693del)
c.2075_2077del (p.Phe692del)
n.2668_2670del
c.2081_2083del (p.Phe694del)
c.977_979del (p.Phe326del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12650190G>ACA505771025MAN2B1c.2079C>T (p.Phe693=)
c.2076C>T (p.Phe692=)
n.2669C>T
c.2082C>T (p.Phe694=)
c.978C>T (p.Phe326=)
 gnomAD v4 COSMIC
19g.12650190G>CCA404243521MAN2B1c.2079C>G (p.Phe693Leu)
c.2076C>G (p.Phe692Leu)
n.2669C>G
c.2082C>G (p.Phe694Leu)
c.978C>G (p.Phe326Leu)
19g.12650190G=CA2323500122MAN2B1c.2079C= (p.Phe693=)
c.2076C= (p.Phe692=)
n.2669C=
c.2082C= (p.Phe694=)
c.978C= (p.Phe326=)
19g.12650190G>TCA9226204MAN2B1c.2079C>A (p.Phe693Leu)
c.2076C>A (p.Phe692Leu)
n.2669C>A
c.2082C>A (p.Phe694Leu)
c.978C>A (p.Phe326Leu)
 dbSNP ExAC gnomAD v4
19g.12650191A>CCA404243525MAN2B1c.2078T>G (p.Phe693Cys)
c.2075T>G (p.Phe692Cys)
n.2668T>G
c.2081T>G (p.Phe694Cys)
c.977T>G (p.Phe326Cys)
 COSMIC
19g.12650191A>GCA404243528MAN2B1c.2078T>C (p.Phe693Ser)
c.2075T>C (p.Phe692Ser)
n.2668T>C
c.2081T>C (p.Phe694Ser)
c.977T>C (p.Phe326Ser)
19g.12650191A>TCA404243530MAN2B1c.2078T>A (p.Phe693Tyr)
c.2075T>A (p.Phe692Tyr)
n.2668T>A
c.2081T>A (p.Phe694Tyr)
c.977T>A (p.Phe326Tyr)
19g.12650191_12650192insTCAGTCAGCACAGTCAGCTGCATGTTTCCATCCTGGGAGTTGAAGGGTGAAAGTAGAGGGCCA2582718690MAN2B1c.2077_2078insGCCCTCTACTTTCACCCTTCAACTCCCAGGATGGAAACATGCAGCTGACTGTGCTGACTGA (p.Phe693CysfsTer?)
c.2074_2075insGCCCTCTACTTTCACCCTTCAACTCCCAGGATGGAAACATGCAGCTGACTGTGCTGACTGA (p.Phe692CysfsTer?)
n.2667_2668insGCCCTCTACTTTCACCCTTCAACTCCCAGGATGGAAACATGCAGCTGACTGTGCTGACTGA
c.2080_2081insGCCCTCTACTTTCACCCTTCAACTCCCAGGATGGAAACATGCAGCTGACTGTGCTGACTGA (p.Phe694CysfsTer?)
c.976_977insGCCCTCTACTTTCACCCTTCAACTCCCAGGATGGAAACATGCAGCTGACTGTGCTGACTGA (p.Phe326CysfsTer?)
 gnomAD v4
19g.12650192A>CCA404243532MAN2B1c.2077T>G (p.Phe693Val)
c.2074T>G (p.Phe692Val)
n.2667T>G
c.2080T>G (p.Phe694Val)
c.976T>G (p.Phe326Val)
19g.12650192A>GCA404243534MAN2B1c.2077T>C (p.Phe693Leu)
c.2074T>C (p.Phe692Leu)
n.2667T>C
c.2080T>C (p.Phe694Leu)
c.976T>C (p.Phe326Leu)
19g.12650192A>TCA404243535MAN2B1c.2077T>A (p.Phe693Ile)
c.2074T>A (p.Phe692Ile)
n.2667T>A
c.2080T>A (p.Phe694Ile)
c.976T>A (p.Phe326Ile)
19g.12650193G>ACA305462989MAN2B1c.2076C>T (p.Asn692=)
c.2073C>T (p.Asn691=)
n.2666C>T
c.2079C>T (p.Asn693=)
c.975C>T (p.Asn325=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.12650193G>CCA404243540MAN2B1c.2076C>G (p.Asn692Lys)
c.2073C>G (p.Asn691Lys)
n.2666C>G
c.2079C>G (p.Asn693Lys)
c.975C>G (p.Asn325Lys)
19g.12650193G=CA2323500123MAN2B1c.2076C= (p.Asn692=)
c.2073C= (p.Asn691=)
n.2666C=
c.2079C= (p.Asn693=)
c.975C= (p.Asn325=)
19g.12650193G>TCA404243542MAN2B1c.2076C>A (p.Asn692Lys)
c.2073C>A (p.Asn691Lys)
n.2666C>A
c.2079C>A (p.Asn693Lys)
c.975C>A (p.Asn325Lys)
 dbSNP gnomAD v3 gnomAD v4
19g.12650194T>ACA404243547MAN2B1c.2075A>T (p.Asn692Ile)
c.2072A>T (p.Asn691Ile)
n.2665A>T
c.2078A>T (p.Asn693Ile)
c.974A>T (p.Asn325Ile)
19g.12650194T>CCA404243550MAN2B1c.2075A>G (p.Asn692Ser)
c.2072A>G (p.Asn691Ser)
n.2665A>G
c.2078A>G (p.Asn693Ser)
c.974A>G (p.Asn325Ser)
19g.12650194T>GCA404243545MAN2B1c.2075A>C (p.Asn692Thr)
c.2072A>C (p.Asn691Thr)
n.2665A>C
c.2078A>C (p.Asn693Thr)
c.974A>C (p.Asn325Thr)
19g.12650195T>ACA404243558MAN2B1c.2074A>T (p.Asn692Tyr)
c.2071A>T (p.Asn691Tyr)
n.2664A>T
c.2077A>T (p.Asn693Tyr)
c.973A>T (p.Asn325Tyr)
 gnomAD v4
19g.12650195T>CCA404243554MAN2B1c.2074A>G (p.Asn692Asp)
c.2071A>G (p.Asn691Asp)
n.2664A>G
c.2077A>G (p.Asn693Asp)
c.973A>G (p.Asn325Asp)
19g.12650195T>GCA404243555MAN2B1c.2074A>C (p.Asn692His)
c.2071A>C (p.Asn691His)
n.2664A>C
c.2077A>C (p.Asn693His)
c.973A>C (p.Asn325His)
19g.12650196C>ACA404243560MAN2B1c.2073G>T (p.Gln691His)
c.2070G>T (p.Gln690His)
n.2663G>T
c.2076G>T (p.Gln692His)
c.972G>T (p.Gln324His)
19g.12650196C=CA2323500124MAN2B1c.2073G= (p.Gln691=)
c.2070G= (p.Gln690=)
n.2663G=
c.2076G= (p.Gln692=)
c.972G= (p.Gln324=)
19g.12650196C>GCA305462994MAN2B1c.2073G>C (p.Gln691His)
c.2070G>C (p.Gln690His)
n.2663G>C
c.2076G>C (p.Gln692His)
c.972G>C (p.Gln324His)
 dbSNP
19g.12650196C>TCA505771026MAN2B1c.2073G>A (p.Gln691=)
c.2070G>A (p.Gln690=)
n.2663G>A
c.2076G>A (p.Gln692=)
c.972G>A (p.Gln324=)
19g.12650197T>ACA404243563MAN2B1c.2072A>T (p.Gln691Leu)
c.2069A>T (p.Gln690Leu)
n.2662A>T
c.2075A>T (p.Gln692Leu)
c.971A>T (p.Gln324Leu)
19g.12650197T>CCA404243564MAN2B1c.2072A>G (p.Gln691Arg)
c.2069A>G (p.Gln690Arg)
n.2662A>G
c.2075A>G (p.Gln692Arg)
c.971A>G (p.Gln324Arg)
19g.12650197T>GCA404243567MAN2B1c.2072A>C (p.Gln691Pro)
c.2069A>C (p.Gln690Pro)
n.2662A>C
c.2075A>C (p.Gln692Pro)
c.971A>C (p.Gln324Pro)
19g.12650198G>ACA404243570MAN2B1c.2071C>T (p.Gln691Ter)
c.2068C>T (p.Gln690Ter)
n.2661C>T
c.2074C>T (p.Gln692Ter)
c.970C>T (p.Gln324Ter)
 ClinVar dbSNP
19g.12650198G>CCA404243573MAN2B1c.2071C>G (p.Gln691Glu)
c.2068C>G (p.Gln690Glu)
n.2661C>G
c.2074C>G (p.Gln692Glu)
c.970C>G (p.Gln324Glu)
19g.12650198G=CA2323500125MAN2B1c.2071C= (p.Gln691=)
c.2068C= (p.Gln690=)
n.2661C=
c.2074C= (p.Gln692=)
c.970C= (p.Gln324=)
19g.12650198G>TCA404243575MAN2B1c.2071C>A (p.Gln691Lys)
c.2068C>A (p.Gln690Lys)
n.2661C>A
c.2074C>A (p.Gln692Lys)
c.970C>A (p.Gln324Lys)
19g.12650199G>ACA505771027MAN2B1c.2070C>T (p.His690=)
c.2067C>T (p.His689=)
n.2660C>T
c.2073C>T (p.His691=)
c.969C>T (p.His323=)
19g.12650199G>CCA404243577MAN2B1c.2070C>G (p.His690Gln)
c.2067C>G (p.His689Gln)
n.2660C>G
c.2073C>G (p.His691Gln)
c.969C>G (p.His323Gln)
19g.12650199G>TCA404243579MAN2B1c.2070C>A (p.His690Gln)
c.2067C>A (p.His689Gln)
n.2660C>A
c.2073C>A (p.His691Gln)
c.969C>A (p.His323Gln)
19g.12650200T>ACA404243587MAN2B1c.2069A>T (p.His690Leu)
c.2066A>T (p.His689Leu)
n.2659A>T
c.2072A>T (p.His691Leu)
c.968A>T (p.His323Leu)
19g.12650200T>CCA404243583MAN2B1c.2069A>G (p.His690Arg)
c.2066A>G (p.His689Arg)
n.2659A>G
c.2072A>G (p.His691Arg)
c.968A>G (p.His323Arg)
 COSMIC
19g.12650200T>GCA404243585MAN2B1c.2069A>C (p.His690Pro)
c.2066A>C (p.His689Pro)
n.2659A>C
c.2072A>C (p.His691Pro)
c.968A>C (p.His323Pro)
19g.12650201G>ACA404243591MAN2B1c.2068C>T (p.His690Tyr)
c.2065C>T (p.His689Tyr)
n.2658C>T
c.2071C>T (p.His691Tyr)
c.967C>T (p.His323Tyr)
19g.12650201G>CCA404243593MAN2B1c.2068C>G (p.His690Asp)
c.2065C>G (p.His689Asp)
n.2658C>G
c.2071C>G (p.His691Asp)
c.967C>G (p.His323Asp)
19g.12650201G>TCA404243594MAN2B1c.2068C>A (p.His690Asn)
c.2065C>A (p.His689Asn)
n.2658C>A
c.2071C>A (p.His691Asn)
c.967C>A (p.His323Asn)
19g.12650202C>ACA505771028MAN2B1c.2067G>T (p.Val689=)
c.2064G>T (p.Val688=)
n.2657G>T
c.2070G>T (p.Val690=)
c.966G>T (p.Val322=)
19g.12650202C>GCA505771029MAN2B1c.2067G>C (p.Val689=)
c.2064G>C (p.Val688=)
n.2657G>C
c.2070G>C (p.Val690=)
c.966G>C (p.Val322=)
19g.12650202C>TCA505771030MAN2B1c.2067G>A (p.Val689=)
c.2064G>A (p.Val688=)
n.2657G>A
c.2070G>A (p.Val690=)
c.966G>A (p.Val322=)
19g.12650203A>CCA404243597MAN2B1c.2066T>G (p.Val689Gly)
c.2063T>G (p.Val688Gly)
n.2656T>G
c.2069T>G (p.Val690Gly)
c.965T>G (p.Val322Gly)
19g.12650203A>GCA404243599MAN2B1c.2066T>C (p.Val689Ala)
c.2063T>C (p.Val688Ala)
n.2656T>C
c.2069T>C (p.Val690Ala)
c.965T>C (p.Val322Ala)
19g.12650203A>TCA404243600MAN2B1c.2066T>A (p.Val689Glu)
c.2063T>A (p.Val688Glu)
n.2656T>A
c.2069T>A (p.Val690Glu)
c.965T>A (p.Val322Glu)
 gnomAD v4
19g.12650204C>ACA404243603MAN2B1c.2065G>T (p.Val689Leu)
c.2062G>T (p.Val688Leu)
n.2655G>T
c.2068G>T (p.Val690Leu)
c.964G>T (p.Val322Leu)
 gnomAD v4
19g.12650204C=CA2323500126MAN2B1c.2065G= (p.Val689=)
c.2062G= (p.Val688=)
n.2655G=
c.2068G= (p.Val690=)
c.964G= (p.Val322=)
19g.12650204C>GCA404243604MAN2B1c.2065G>C (p.Val689Leu)
c.2062G>C (p.Val688Leu)
n.2655G>C
c.2068G>C (p.Val690Leu)
c.964G>C (p.Val322Leu)
 dbSNP gnomAD v4
19g.12650204C>TCA9226205MAN2B1c.2065G>A (p.Val689Met)
c.2062G>A (p.Val688Met)
n.2655G>A
c.2068G>A (p.Val690Met)
c.964G>A (p.Val322Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12650204_12650208delCA2582718691MAN2B1c.2061_2065del (p.Gln687HisfsTer?)
c.2058_2062del (p.Gln686HisfsTer?)
n.2651_2655del
c.2064_2068del (p.Gln688HisfsTer?)
c.960_964del (p.Gln320HisfsTer?)
 gnomAD v4
19g.12650205C>ACA404243605MAN2B1c.2064G>T (p.Glu688Asp)
c.2061G>T (p.Glu687Asp)
n.2654G>T
c.2067G>T (p.Glu689Asp)
c.963G>T (p.Glu321Asp)
19g.12650205C=CA2323500127MAN2B1c.2064G= (p.Glu688=)
c.2061G= (p.Glu687=)
n.2654G=
c.2067G= (p.Glu689=)
c.963G= (p.Glu321=)
19g.12650205C>GCA404243606MAN2B1c.2064G>C (p.Glu688Asp)
c.2061G>C (p.Glu687Asp)
n.2654G>C
c.2067G>C (p.Glu689Asp)
c.963G>C (p.Glu321Asp)
19g.12650205C>TCA505771031MAN2B1c.2064G>A (p.Glu688=)
c.2061G>A (p.Glu687=)
n.2654G>A
c.2067G>A (p.Glu689=)
c.963G>A (p.Glu321=)
 dbSNP gnomAD v2 gnomAD v4
19g.12650206delCA2576635017MAN2B1c.2063del (p.Glu688GlyfsTer25)
c.2060del (p.Glu687GlyfsTer25)
n.2653del
c.2066del (p.Glu689GlyfsTer25)
c.962del (p.Glu321GlyfsTer25)
19g.12650206T>ACA404243610MAN2B1c.2063A>T (p.Glu688Val)
c.2060A>T (p.Glu687Val)
n.2653A>T
c.2066A>T (p.Glu689Val)
c.962A>T (p.Glu321Val)
19g.12650206T>CCA404243611MAN2B1c.2063A>G (p.Glu688Gly)
c.2060A>G (p.Glu687Gly)
n.2653A>G
c.2066A>G (p.Glu689Gly)
c.962A>G (p.Glu321Gly)
19g.12650206T>GCA404243608MAN2B1c.2063A>C (p.Glu688Ala)
c.2060A>C (p.Glu687Ala)
n.2653A>C
c.2066A>C (p.Glu689Ala)
c.962A>C (p.Glu321Ala)
19g.12650207C>ACA404243614MAN2B1c.2062G>T (p.Glu688Ter)
c.2059G>T (p.Glu687Ter)
n.2652G>T
c.2065G>T (p.Glu689Ter)
c.961G>T (p.Glu321Ter)
19g.12650207C>GCA404243616MAN2B1c.2062G>C (p.Glu688Gln)
c.2059G>C (p.Glu687Gln)
n.2652G>C
c.2065G>C (p.Glu689Gln)
c.961G>C (p.Glu321Gln)
19g.12650207C>TCA404243619MAN2B1c.2062G>A (p.Glu688Lys)
c.2059G>A (p.Glu687Lys)
n.2652G>A
c.2065G>A (p.Glu689Lys)
c.961G>A (p.Glu321Lys)
 COSMIC
19g.12650208delCA2582718692MAN2B1c.2062del (p.Glu688ArgfsTer25)
c.2059del (p.Glu687ArgfsTer25)
n.2652del
c.2065del (p.Glu689ArgfsTer25)
c.961del (p.Glu321ArgfsTer25)
 gnomAD v4
19g.12650208C>ACA404243621MAN2B1c.2061G>T (p.Gln687His)
c.2058G>T (p.Gln686His)
n.2651G>T
c.2064G>T (p.Gln688His)
c.960G>T (p.Gln320His)
19g.12650208C>GCA404243622MAN2B1c.2061G>C (p.Gln687His)
c.2058G>C (p.Gln686His)
n.2651G>C
c.2064G>C (p.Gln688His)
c.960G>C (p.Gln320His)
19g.12650208C>TCA505771032MAN2B1c.2061G>A (p.Gln687=)
c.2058G>A (p.Gln686=)
n.2651G>A
c.2064G>A (p.Gln688=)
c.960G>A (p.Gln320=)
19g.12650209T>ACA404243631MAN2B1c.2060A>T (p.Gln687Leu)
c.2057A>T (p.Gln686Leu)
n.2650A>T
c.2063A>T (p.Gln688Leu)
c.959A>T (p.Gln320Leu)
19g.12650209T>CCA404243628MAN2B1c.2060A>G (p.Gln687Arg)
c.2057A>G (p.Gln686Arg)
n.2650A>G
c.2063A>G (p.Gln688Arg)
c.959A>G (p.Gln320Arg)
19g.12650209T>GCA404243625MAN2B1c.2060A>C (p.Gln687Pro)
c.2057A>C (p.Gln686Pro)
n.2650A>C
c.2063A>C (p.Gln688Pro)
c.959A>C (p.Gln320Pro)
19g.12650210G>ACA404243632MAN2B1c.2059C>T (p.Gln687Ter)
c.2056C>T (p.Gln686Ter)
n.2649C>T
c.2062C>T (p.Gln688Ter)
c.958C>T (p.Gln320Ter)
19g.12650210G>CCA404243633MAN2B1c.2059C>G (p.Gln687Glu)
c.2056C>G (p.Gln686Glu)
n.2649C>G
c.2062C>G (p.Gln688Glu)
c.958C>G (p.Gln320Glu)
19g.12650210G>TCA404243635MAN2B1c.2059C>A (p.Gln687Lys)
c.2056C>A (p.Gln686Lys)
n.2649C>A
c.2062C>A (p.Gln688Lys)
c.958C>A (p.Gln320Lys)
19g.12650211C>ACA505771033MAN2B1c.2058G>T (p.Val686=)
c.2055G>T (p.Val685=)
n.2648G>T
c.2061G>T (p.Val687=)
c.957G>T (p.Val319=)
19g.12650211C>GCA505771034MAN2B1c.2058G>C (p.Val686=)
c.2055G>C (p.Val685=)
n.2648G>C
c.2061G>C (p.Val687=)
c.957G>C (p.Val319=)
19g.12650211C>TCA505771035MAN2B1c.2058G>A (p.Val686=)
c.2055G>A (p.Val685=)
n.2648G>A
c.2061G>A (p.Val687=)
c.957G>A (p.Val319=)
 ClinVar
19g.12650212A=CA2323500128MAN2B1c.2057T= (p.Val686=)
c.2054T= (p.Val685=)
n.2647T=
c.2060T= (p.Val687=)
c.956T= (p.Val319=)
19g.12650212A>CCA404243638MAN2B1c.2057T>G (p.Val686Gly)
c.2054T>G (p.Val685Gly)
n.2647T>G
c.2060T>G (p.Val687Gly)
c.956T>G (p.Val319Gly)
19g.12650212A>GCA9226206MAN2B1c.2057T>C (p.Val686Ala)
c.2054T>C (p.Val685Ala)
n.2647T>C
c.2060T>C (p.Val687Ala)
c.956T>C (p.Val319Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12650212A>TCA404243642MAN2B1c.2057T>A (p.Val686Glu)
c.2054T>A (p.Val685Glu)
n.2647T>A
c.2060T>A (p.Val687Glu)
c.956T>A (p.Val319Glu)
19g.12650213C>ACA404243644MAN2B1c.2056G>T (p.Val686Leu)
c.2053G>T (p.Val685Leu)
n.2646G>T
c.2059G>T (p.Val687Leu)
c.955G>T (p.Val319Leu)
19g.12650213C>GCA404243648MAN2B1c.2056G>C (p.Val686Leu)
c.2053G>C (p.Val685Leu)
n.2646G>C
c.2059G>C (p.Val687Leu)
c.955G>C (p.Val319Leu)
19g.12650213C>TCA404243646MAN2B1c.2056G>A (p.Val686Met)
c.2053G>A (p.Val685Met)
n.2646G>A
c.2059G>A (p.Val687Met)
c.955G>A (p.Val319Met)
19g.12650214C>ACA404243651MAN2B1c.2055G>T (p.Leu685Phe)
c.2052G>T (p.Leu684Phe)
n.2645G>T
c.2058G>T (p.Leu686Phe)
c.954G>T (p.Leu318Phe)
19g.12650214C=CA2323500129MAN2B1c.2055G= (p.Leu685=)
c.2052G= (p.Leu684=)
n.2645G=
c.2058G= (p.Leu686=)
c.954G= (p.Leu318=)
19g.12650214C>GCA9226207MAN2B1c.2055G>C (p.Leu685Phe)
c.2052G>C (p.Leu684Phe)
n.2645G>C
c.2058G>C (p.Leu686Phe)
c.954G>C (p.Leu318Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12650214C>TCA505771036MAN2B1c.2055G>A (p.Leu685=)
c.2052G>A (p.Leu684=)
n.2645G>A
c.2058G>A (p.Leu686=)
c.954G>A (p.Leu318=)
 gnomAD v4
19g.12650215A=CA2323500130MAN2B1c.2054T= (p.Leu685=)
c.2051T= (p.Leu684=)
n.2644T=
c.2057T= (p.Leu686=)
c.953T= (p.Leu318=)
19g.12650215A>CCA404243652MAN2B1c.2054T>G (p.Leu685Trp)
c.2051T>G (p.Leu684Trp)
n.2644T>G
c.2057T>G (p.Leu686Trp)
c.953T>G (p.Leu318Trp)
19g.12650215A>GCA9226208MAN2B1c.2054T>C (p.Leu685Ser)
c.2051T>C (p.Leu684Ser)
n.2644T>C
c.2057T>C (p.Leu686Ser)
c.953T>C (p.Leu318Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12650215A>TCA404243653MAN2B1c.2054T>A (p.Leu685Ter)
c.2051T>A (p.Leu684Ter)
n.2644T>A
c.2057T>A (p.Leu686Ter)
c.953T>A (p.Leu318Ter)
19g.12650215_12650216insGACA2582718693MAN2B1c.2054_2055insCT (p.Leu685PhefsTer29)
c.2051_2052insCT (p.Leu684PhefsTer29)
n.2644_2645insCT
c.2057_2058insCT (p.Leu686PhefsTer29)
c.953_954insCT (p.Leu318PhefsTer29)
 gnomAD v4
19g.12650215_12650216insGCA2582718694MAN2B1c.2053_2054insC (p.Leu685SerfsTer?)
c.2050_2051insC (p.Leu684SerfsTer?)
n.2643_2644insC
c.2056_2057insC (p.Leu686SerfsTer?)
c.952_953insC (p.Leu318SerfsTer?)
 gnomAD v4
19g.12650216A>CCA404243654MAN2B1c.2053T>G (p.Leu685Val)
c.2050T>G (p.Leu684Val)
n.2643T>G
c.2056T>G (p.Leu686Val)
c.952T>G (p.Leu318Val)
19g.12650216A>GCA505771037MAN2B1c.2053T>C (p.Leu685=)
c.2050T>C (p.Leu684=)
n.2643T>C
c.2056T>C (p.Leu686=)
c.952T>C (p.Leu318=)
 ClinVar gnomAD v4
19g.12650216A>TCA404243655MAN2B1c.2053T>A (p.Leu685Met)
c.2050T>A (p.Leu684Met)
n.2643T>A
c.2056T>A (p.Leu686Met)
c.952T>A (p.Leu318Met)
 gnomAD v4
19g.12650217G>ACA305463005MAN2B1c.2052C>T (p.Pro684=)
c.2049C>T (p.Pro683=)
n.2642C>T
c.2055C>T (p.Pro685=)
c.951C>T (p.Pro317=)
 ClinVar dbSNP gnomAD v4
19g.12650217G>CCA505771038MAN2B1c.2052C>G (p.Pro684=)
c.2049C>G (p.Pro683=)
n.2642C>G
c.2055C>G (p.Pro685=)
c.951C>G (p.Pro317=)
 ClinVar
19g.12650217G=CA2323500131MAN2B1c.2052C= (p.Pro684=)
c.2049C= (p.Pro683=)
n.2642C=
c.2055C= (p.Pro685=)
c.951C= (p.Pro317=)
19g.12650217G>TCA505771039MAN2B1c.2052C>A (p.Pro684=)
c.2049C>A (p.Pro683=)
n.2642C>A
c.2055C>A (p.Pro685=)
c.951C>A (p.Pro317=)
19g.12650218G>ACA305463010MAN2B1c.2051C>T (p.Pro684Leu)
c.2048C>T (p.Pro683Leu)
n.2641C>T
c.2054C>T (p.Pro685Leu)
c.950C>T (p.Pro317Leu)
 dbSNP gnomAD v4 COSMIC
19g.12650218G>CCA404243660MAN2B1c.2051C>G (p.Pro684Arg)
c.2048C>G (p.Pro683Arg)
n.2641C>G
c.2054C>G (p.Pro685Arg)
c.950C>G (p.Pro317Arg)
19g.12650218G=CA2323500132MAN2B1c.2051C= (p.Pro684=)
c.2048C= (p.Pro683=)
n.2641C=
c.2054C= (p.Pro685=)
c.950C= (p.Pro317=)
19g.12650218G>TCA404243663MAN2B1c.2051C>A (p.Pro684His)
c.2048C>A (p.Pro683His)
n.2641C>A
c.2054C>A (p.Pro685His)
c.950C>A (p.Pro317His)
 gnomAD v4
19g.12650219G>ACA404243666MAN2B1c.2050C>T (p.Pro684Ser)
c.2047C>T (p.Pro683Ser)
n.2640C>T
c.2053C>T (p.Pro685Ser)
c.949C>T (p.Pro317Ser)
19g.12650219G>CCA404243669MAN2B1c.2050C>G (p.Pro684Ala)
c.2047C>G (p.Pro683Ala)
n.2640C>G
c.2053C>G (p.Pro685Ala)
c.949C>G (p.Pro317Ala)
 gnomAD v4
19g.12650219G=CA2323500133MAN2B1c.2050C= (p.Pro684=)
c.2047C= (p.Pro683=)
n.2640C=
c.2053C= (p.Pro685=)
c.949C= (p.Pro317=)
19g.12650219G>TCA404243671MAN2B1c.2050C>A (p.Pro684Thr)
c.2047C>A (p.Pro683Thr)
n.2640C>A
c.2053C>A (p.Pro685Thr)
c.949C>A (p.Pro317Thr)
 ClinVar dbSNP gnomAD v4
19g.12650220T>ACA505771040MAN2B1c.2049A>T (p.Thr683=)
c.2046A>T (p.Thr682=)
n.2639A>T
c.2052A>T (p.Thr684=)
c.948A>T (p.Thr316=)
19g.12650220T>CCA505771041MAN2B1c.2049A>G (p.Thr683=)
c.2046A>G (p.Thr682=)
n.2639A>G
c.2052A>G (p.Thr684=)
c.948A>G (p.Thr316=)
19g.12650220T>GCA505771042MAN2B1c.2049A>C (p.Thr683=)
c.2046A>C (p.Thr682=)
n.2639A>C
c.2052A>C (p.Thr684=)
c.948A>C (p.Thr316=)
19g.12650221G>ACA404243673MAN2B1c.2048C>T (p.Thr683Ile)
c.2045C>T (p.Thr682Ile)
n.2638C>T
c.2051C>T (p.Thr684Ile)
c.947C>T (p.Thr316Ile)
 gnomAD v4
19g.12650221G>CCA404243674MAN2B1c.2048C>G (p.Thr683Arg)
c.2045C>G (p.Thr682Arg)
n.2638C>G
c.2051C>G (p.Thr684Arg)
c.947C>G (p.Thr316Arg)
19g.12650221G>TCA404243672MAN2B1c.2048C>A (p.Thr683Lys)
c.2045C>A (p.Thr682Lys)
n.2638C>A
c.2051C>A (p.Thr684Lys)
c.947C>A (p.Thr316Lys)
 gnomAD v4
19g.12650222T>ACA404243675MAN2B1c.2047A>T (p.Thr683Ser)
c.2044A>T (p.Thr682Ser)
n.2637A>T
c.2050A>T (p.Thr684Ser)
c.946A>T (p.Thr316Ser)
19g.12650222T>CCA9226209MAN2B1c.2047A>G (p.Thr683Ala)
c.2044A>G (p.Thr682Ala)
n.2637A>G
c.2050A>G (p.Thr684Ala)
c.946A>G (p.Thr316Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.12650222T>GCA404243677MAN2B1c.2047A>C (p.Thr683Pro)
c.2044A>C (p.Thr682Pro)
n.2637A>C
c.2050A>C (p.Thr684Pro)
c.946A>C (p.Thr316Pro)
19g.12650222T=CA2323500134MAN2B1c.2047A= (p.Thr683=)
c.2044A= (p.Thr682=)
n.2637A=
c.2050A= (p.Thr684=)
c.946A= (p.Thr316=)
19g.12650223C>ACA404243679MAN2B1c.2047-1G>T (n.2047-1G>T)
c.2044-1G>T (n.2044-1G>T)
n.2637-1G>T
c.2050-1G>T (n.2050-1G>T)
c.946-1G>T (n.946-1G>T)
19g.12650223C=CA2323500135MAN2B1c.2047-1G= (n.2047-1G=)
c.2044-1G= (n.2044-1G=)
n.2637-1G=
c.2050-1G= (n.2050-1G=)
c.946-1G= (n.946-1G=)
19g.12650223C>GCA404243681MAN2B1c.2047-1G>C (n.2047-1G>C)
c.2044-1G>C (n.2044-1G>C)
n.2637-1G>C
c.2050-1G>C (n.2050-1G>C)
c.946-1G>C (n.946-1G>C)
 gnomAD v4
19g.12650223C>TCA16041946MAN2B1c.2047-1G>A (n.2047-1G>A)
c.2044-1G>A (n.2044-1G>A)
n.2637-1G>A
c.2050-1G>A (n.2050-1G>A)
c.946-1G>A (n.946-1G>A)
 ClinVar dbSNP
19g.12650224T>ACA404243683MAN2B1c.2047-2A>T (n.2047-2A>T)
c.2044-2A>T (n.2044-2A>T)
n.2637-2A>T
c.2050-2A>T (n.2050-2A>T)
c.946-2A>T (n.946-2A>T)
19g.12650224T>CCA404243684MAN2B1c.2047-2A>G (n.2047-2A>G)
c.2044-2A>G (n.2044-2A>G)
n.2637-2A>G
c.2050-2A>G (n.2050-2A>G)
c.946-2A>G (n.946-2A>G)
19g.12650224T>GCA404243686MAN2B1c.2047-2A>C (n.2047-2A>C)
c.2044-2A>C (n.2044-2A>C)
n.2637-2A>C
c.2050-2A>C (n.2050-2A>C)
c.946-2A>C (n.946-2A>C)
19g.12650225G>ACA2576635018MAN2B1c.2047-3C>T (n.2047-3C>T)
c.2044-3C>T (n.2044-3C>T)
n.2637-3C>T
c.2050-3C>T (n.2050-3C>T)
c.946-3C>T (n.946-3C>T)
 gnomAD v4
19g.12650225G>TCA2582718695MAN2B1c.2047-3C>A (n.2047-3C>A)
c.2044-3C>A (n.2044-3C>A)
n.2637-3C>A
c.2050-3C>A (n.2050-3C>A)
c.946-3C>A (n.946-3C>A)
 gnomAD v4
19g.12650226C=CA2323500136MAN2B1c.2047-4G= (n.2047-4G=)
c.2044-4G= (n.2044-4G=)
n.2637-4G=
c.2050-4G= (n.2050-4G=)
c.946-4G= (n.946-4G=)
19g.12650226C>TCA9226210MAN2B1c.2047-4G>A (n.2047-4G>A)
c.2044-4G>A (n.2044-4G>A)
n.2637-4G>A
c.2050-4G>A (n.2050-4G>A)
c.946-4G>A (n.946-4G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12650227G>ACA9226211MAN2B1c.2047-5C>T (n.2047-5C>T)
c.2044-5C>T (n.2044-5C>T)
n.2637-5C>T
c.2050-5C>T (n.2050-5C>T)
c.946-5C>T (n.946-5C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12650227G=CA2323500137MAN2B1c.2047-5C= (n.2047-5C=)
c.2044-5C= (n.2044-5C=)
n.2637-5C=
c.2050-5C= (n.2050-5C=)
c.946-5C= (n.946-5C=)
19g.12650227G>TCA2582718696MAN2B1c.2047-5C>A (n.2047-5C>A)
c.2044-5C>A (n.2044-5C>A)
n.2637-5C>A
c.2050-5C>A (n.2050-5C>A)
c.946-5C>A (n.946-5C>A)
 gnomAD v4
19g.12650228G>ACA2576635019MAN2B1c.2047-6C>T (n.2047-6C>T)
c.2044-6C>T (n.2044-6C>T)
n.2637-6C>T
c.2050-6C>T (n.2050-6C>T)
c.946-6C>T (n.946-6C>T)
 ClinVar
19g.12650228G=CA2323500138MAN2B1c.2047-6C= (n.2047-6C=)
c.2044-6C= (n.2044-6C=)
n.2637-6C=
c.2050-6C= (n.2050-6C=)
c.946-6C= (n.946-6C=)
19g.12650228G>TCA2323500139MAN2B1c.2047-6C>A (n.2047-6C>A)
c.2044-6C>A (n.2044-6C>A)
n.2637-6C>A
c.2050-6C>A (n.2050-6C>A)
c.946-6C>A (n.946-6C>A)
 dbSNP gnomAD v4
19g.12650229G>ACA2697556345MAN2B1c.2047-7C>T (n.2047-7C>T)
c.2044-7C>T (n.2044-7C>T)
n.2637-7C>T
c.2050-7C>T (n.2050-7C>T)
c.946-7C>T (n.946-7C>T)
 ClinVar
19g.12650229G>TCA2582718697MAN2B1c.2047-7C>A (n.2047-7C>A)
c.2044-7C>A (n.2044-7C>A)
n.2637-7C>A
c.2050-7C>A (n.2050-7C>A)
c.946-7C>A (n.946-7C>A)
 gnomAD v4
19g.12650230C>ACA632119587MAN2B1c.2047-8G>T (n.2047-8G>T)
c.2044-8G>T (n.2044-8G>T)
n.2637-8G>T
c.2050-8G>T (n.2050-8G>T)
c.946-8G>T (n.946-8G>T)
 dbSNP gnomAD v2
19g.12650230C=CA2323500140MAN2B1c.2047-8G= (n.2047-8G=)
c.2044-8G= (n.2044-8G=)
n.2637-8G=
c.2050-8G= (n.2050-8G=)
c.946-8G= (n.946-8G=)
19g.12650230C>TCA2582718698MAN2B1c.2047-8G>A (n.2047-8G>A)
c.2044-8G>A (n.2044-8G>A)
n.2637-8G>A
c.2050-8G>A (n.2050-8G>A)
c.946-8G>A (n.946-8G>A)
 gnomAD v4
19g.12650231A=CA2323500141MAN2B1c.2047-9T= (n.2047-9T=)
c.2044-9T= (n.2044-9T=)
n.2637-9T=
c.2050-9T= (n.2050-9T=)
c.946-9T= (n.946-9T=)
19g.12650232C=CA2323500143MAN2B1c.2047-10G= (n.2047-10G=)
c.2044-10G= (n.2044-10G=)
n.2637-10G=
c.2050-10G= (n.2050-10G=)
c.946-10G= (n.946-10G=)
19g.12650232C>TCA632119588MAN2B1c.2047-10G>A (n.2047-10G>A)
c.2044-10G>A (n.2044-10G>A)
n.2637-10G>A
c.2050-10G>A (n.2050-10G>A)
c.946-10G>A (n.946-10G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.12650232dupCA2323500142MAN2B1c.2047-10dup (n.2047-10dup)
c.2044-10dup (n.2044-10dup)
n.2637-10dup
c.2050-10dup (n.2050-10dup)
c.946-10dup (n.946-10dup)
 dbSNP
19g.12650233A=CA2323500144MAN2B1c.2047-11T= (n.2047-11T=)
c.2044-11T= (n.2044-11T=)
n.2637-11T=
c.2050-11T= (n.2050-11T=)
c.946-11T= (n.946-11T=)
19g.12650233A>CCA9226212MAN2B1c.2047-11T>G (n.2047-11T>G)
c.2044-11T>G (n.2044-11T>G)
n.2637-11T>G
c.2050-11T>G (n.2050-11T>G)
c.946-11T>G (n.946-11T>G)
 dbSNP ExAC gnomAD v2
19g.12650233A>GCA783386403MAN2B1c.2047-11T>C (n.2047-11T>C)
c.2044-11T>C (n.2044-11T>C)
n.2637-11T>C
c.2050-11T>C (n.2050-11T>C)
c.946-11T>C (n.946-11T>C)
 dbSNP gnomAD v3 gnomAD v4
19g.12650234C>ACA9226214MAN2B1c.2047-12G>T (n.2047-12G>T)
c.2044-12G>T (n.2044-12G>T)
n.2637-12G>T
c.2050-12G>T (n.2050-12G>T)
c.946-12G>T (n.946-12G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.12650234C=CA2323500145MAN2B1c.2047-12G= (n.2047-12G=)
c.2044-12G= (n.2044-12G=)
n.2637-12G=
c.2050-12G= (n.2050-12G=)
c.946-12G= (n.946-12G=)
19g.12650234C>GCA632119589MAN2B1c.2047-12G>C (n.2047-12G>C)
c.2044-12G>C (n.2044-12G>C)
n.2637-12G>C
c.2050-12G>C (n.2050-12G>C)
c.946-12G>C (n.946-12G>C)
 ClinVar dbSNP gnomAD v2
19g.12650234C>TCA9226213MAN2B1c.2047-12G>A (n.2047-12G>A)
c.2044-12G>A (n.2044-12G>A)
n.2637-12G>A
c.2050-12G>A (n.2050-12G>A)
c.946-12G>A (n.946-12G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12650234_12650235delinsCGCA2323500146MAN2B1c.2047-13_2047-12delinsCG (n.2047-13_2047-12delinsCG)
c.2044-13_2044-12delinsCG (n.2044-13_2044-12delinsCG)
n.2637-13_2637-12delinsCG
c.2050-13_2050-12delinsCG (n.2050-13_2050-12delinsCG)
c.946-13_946-12delinsCG (n.946-13_946-12delinsCG)
19g.12650235G>ACA9226215MAN2B1c.2047-13C>T (n.2047-13C>T)
c.2044-13C>T (n.2044-13C>T)
n.2637-13C>T
c.2050-13C>T (n.2050-13C>T)
c.946-13C>T (n.946-13C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12650235G=CA2323500148MAN2B1c.2047-13C= (n.2047-13C=)
c.2044-13C= (n.2044-13C=)
n.2637-13C=
c.2050-13C= (n.2050-13C=)
c.946-13C= (n.946-13C=)
19g.12650235G>TCA2582718699MAN2B1c.2047-13C>A (n.2047-13C>A)
c.2044-13C>A (n.2044-13C>A)
n.2637-13C>A
c.2050-13C>A (n.2050-13C>A)
c.946-13C>A (n.946-13C>A)
 gnomAD v4
19g.12650237delCA2323500147MAN2B1c.2047-13del (n.2047-13del)
c.2044-13del (n.2044-13del)
n.2637-13del
c.2050-13del (n.2050-13del)
c.946-13del (n.946-13del)
 dbSNP gnomAD v4
19g.12650236G>ACA2581952510MAN2B1c.2047-14C>T (n.2047-14C>T)
c.2044-14C>T (n.2044-14C>T)
n.2637-14C>T
c.2050-14C>T (n.2050-14C>T)
c.946-14C>T (n.946-14C>T)
 ClinVar gnomAD v3 gnomAD v4
19g.12650236G>CCA2580096695MAN2B1c.2047-14C>G (n.2047-14C>G)
c.2044-14C>G (n.2044-14C>G)
n.2637-14C>G
c.2050-14C>G (n.2050-14C>G)
c.946-14C>G (n.946-14C>G)
 ClinVar gnomAD v4
19g.12650236G>TCA2576635046MAN2B1c.2047-14C>A (n.2047-14C>A)
c.2044-14C>A (n.2044-14C>A)
n.2637-14C>A
c.2050-14C>A (n.2050-14C>A)
c.946-14C>A (n.946-14C>A)
 ClinVar gnomAD v4
19g.12650237G>ACA2323500149MAN2B1c.2047-15C>T (n.2047-15C>T)
c.2044-15C>T (n.2044-15C>T)
n.2637-15C>T
c.2050-15C>T (n.2050-15C>T)
c.946-15C>T (n.946-15C>T)
 ClinVar dbSNP gnomAD v4
19g.12650237G=CA2323500150MAN2B1c.2047-15C= (n.2047-15C=)
c.2044-15C= (n.2044-15C=)
n.2637-15C=
c.2050-15C= (n.2050-15C=)
c.946-15C= (n.946-15C=)
19g.12650237G>TCA9226216MAN2B1c.2047-15C>A (n.2047-15C>A)
c.2044-15C>A (n.2044-15C>A)
n.2637-15C>A
c.2050-15C>A (n.2050-15C>A)
c.946-15C>A (n.946-15C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12650238T>ACA2512942893MAN2B1c.2047-16A>T (n.2047-16A>T)
c.2044-16A>T (n.2044-16A>T)
n.2637-16A>T
c.2050-16A>T (n.2050-16A>T)
c.946-16A>T (n.946-16A>T)
19g.12650239G>ACA305463061MAN2B1c.2047-17C>T (n.2047-17C>T)
c.2044-17C>T (n.2044-17C>T)
n.2637-17C>T
c.2050-17C>T (n.2050-17C>T)
c.946-17C>T (n.946-17C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.12650239G>CCA2576635047MAN2B1c.2047-17C>G (n.2047-17C>G)
c.2044-17C>G (n.2044-17C>G)
n.2637-17C>G
c.2050-17C>G (n.2050-17C>G)
c.946-17C>G (n.946-17C>G)
19g.12650239G=CA2323500151MAN2B1c.2047-17C= (n.2047-17C=)
c.2044-17C= (n.2044-17C=)
n.2637-17C=
c.2050-17C= (n.2050-17C=)
c.946-17C= (n.946-17C=)
19g.12650239G>TCA2582718700MAN2B1c.2047-17C>A (n.2047-17C>A)
c.2044-17C>A (n.2044-17C>A)
n.2637-17C>A
c.2050-17C>A (n.2050-17C>A)
c.946-17C>A (n.946-17C>A)
 gnomAD v4
19g.12650240A=CA2323500152MAN2B1c.2047-18T= (n.2047-18T=)
c.2044-18T= (n.2044-18T=)
n.2637-18T=
c.2050-18T= (n.2050-18T=)
c.946-18T= (n.946-18T=)
19g.12650240A>GCA2323500153MAN2B1c.2047-18T>C (n.2047-18T>C)
c.2044-18T>C (n.2044-18T>C)
n.2637-18T>C
c.2050-18T>C (n.2050-18T>C)
c.946-18T>C (n.946-18T>C)
 dbSNP
19g.12650240A>TCA2555402133MAN2B1c.2047-18T>A (n.2047-18T>A)
c.2044-18T>A (n.2044-18T>A)
n.2637-18T>A
c.2050-18T>A (n.2050-18T>A)
c.946-18T>A (n.946-18T>A)
19g.12650241G>ACA9226217MAN2B1c.2047-19C>T (n.2047-19C>T)
c.2044-19C>T (n.2044-19C>T)
n.2637-19C>T
c.2050-19C>T (n.2050-19C>T)
c.946-19C>T (n.946-19C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12650241G=CA2323500154MAN2B1c.2047-19C= (n.2047-19C=)
c.2044-19C= (n.2044-19C=)
n.2637-19C=
c.2050-19C= (n.2050-19C=)
c.946-19C= (n.946-19C=)
19g.12650241G>TCA2582718701MAN2B1c.2047-19C>A (n.2047-19C>A)
c.2044-19C>A (n.2044-19C>A)
n.2637-19C>A
c.2050-19C>A (n.2050-19C>A)
c.946-19C>A (n.946-19C>A)
 gnomAD v4
19g.12650242G>ACA783386412MAN2B1c.2047-20C>T (n.2047-20C>T)
c.2044-20C>T (n.2044-20C>T)
n.2637-20C>T
c.2050-20C>T (n.2050-20C>T)
c.946-20C>T (n.946-20C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.12650242G=CA2323500155MAN2B1c.2047-20C= (n.2047-20C=)
c.2044-20C= (n.2044-20C=)
n.2637-20C=
c.2050-20C= (n.2050-20C=)
c.946-20C= (n.946-20C=)
19g.12650242G>TCA2582718702MAN2B1c.2047-20C>A (n.2047-20C>A)
c.2044-20C>A (n.2044-20C>A)
n.2637-20C>A
c.2050-20C>A (n.2050-20C>A)
c.946-20C>A (n.946-20C>A)
 gnomAD v4

Number of alleles fetched