Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.12647253_12647269delinsAGCCTGGAGGCTGCCTCCA2323498541MAN2B1c.2887_2903delinsGAGGCAGCCTCCAGGCT (p.Glu963=)
c.2884_2900delinsGAGGCAGCCTCCAGGCT (p.Glu962=)
n.3477_3493delinsGAGGCAGCCTCCAGGCT
n.316_332delinsGAGGCAGCCTCCAGGCT
n.298_314delinsGAGGCAGCCTCCAGGCT
c.446_462delinsGAGGCAGCCTCCAGGCT
c.2890_2906delinsGAGGCAGCCTCCAGGCT (p.Glu964=)
c.1786_1802delinsGAGGCAGCCTCCAGGCT (p.Glu596=)
19g.12647256_12647271delCA1139666292MAN2B1c.2887_2902del (p.Glu963SerfsTer?)
c.2884_2899del (p.Glu962SerfsTer?)
n.3477_3492del
n.316_331del
n.298_313del
c.446_461del
c.2890_2905del (p.Glu964SerfsTer?)
c.1786_1801del (p.Glu596SerfsTer?)
 ClinVar dbSNP
19g.12647262_12647275delCA2697556344MAN2B1c.2885_2898del (p.Arg962GlnfsTer?)
c.2882_2895del (p.Arg961GlnfsTer?)
n.3475_3488del
n.314_327del
n.296_309del
c.444_457del
c.2888_2901del (p.Arg963GlnfsTer?)
c.1784_1797del (p.Arg595GlnfsTer?)
 ClinVar
19g.12647269delCA2573156055MAN2B1c.2887del (p.Glu963ArgfsTer?)
c.2884del (p.Glu962ArgfsTer?)
n.3477del
n.316del
n.298del
c.446del
c.2890del (p.Glu964ArgfsTer?)
c.1786del (p.Glu596ArgfsTer?)
 ClinVar dbSNP gnomAD v4
19g.12647269C>ACA404237314MAN2B1c.2887G>T (p.Glu963Ter)
c.2884G>T (p.Glu962Ter)
n.3477G>T
n.316G>T
n.298G>T
c.446G>T
c.2890G>T (p.Glu964Ter)
c.1786G>T (p.Glu596Ter)
 ClinVar dbSNP gnomAD v4
19g.12647269C=CA2323498547MAN2B1c.2887G= (p.Glu963=)
c.2884G= (p.Glu962=)
n.3477G=
n.316G=
n.298G=
c.446G=
c.2890G= (p.Glu964=)
c.1786G= (p.Glu596=)
19g.12647269C>GCA404237316MAN2B1c.2887G>C (p.Glu963Gln)
c.2884G>C (p.Glu962Gln)
n.3477G>C
n.316G>C
n.298G>C
c.446G>C
c.2890G>C (p.Glu964Gln)
c.1786G>C (p.Glu596Gln)
 gnomAD v4
19g.12647269C>TCA9225886MAN2B1c.2887G>A (p.Glu963Lys)
c.2884G>A (p.Glu962Lys)
n.3477G>A
n.316G>A
n.298G>A
c.446G>A
c.2890G>A (p.Glu964Lys)
c.1786G>A (p.Glu596Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.12647270G>ACA9225887MAN2B1c.2886C>T (p.Arg962=)
c.2883C>T (p.Arg961=)
n.3476C>T
n.315C>T
n.297C>T
c.445C>T
c.2889C>T (p.Arg963=)
c.1785C>T (p.Arg595=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.12647270G>CCA505770574MAN2B1c.2886C>G (p.Arg962=)
c.2883C>G (p.Arg961=)
n.3476C>G
n.315C>G
n.297C>G
c.445C>G
c.2889C>G (p.Arg963=)
c.1785C>G (p.Arg595=)
 dbSNP
19g.12647270G=CA2323498548MAN2B1c.2886C= (p.Arg962=)
c.2883C= (p.Arg961=)
n.3476C=
n.315C=
n.297C=
c.445C=
c.2889C= (p.Arg963=)
c.1785C= (p.Arg595=)
19g.12647270G>TCA505770575MAN2B1c.2886C>A (p.Arg962=)
c.2883C>A (p.Arg961=)
n.3476C>A
n.315C>A
n.297C>A
c.445C>A
c.2889C>A (p.Arg963=)
c.1785C>A (p.Arg595=)
19g.12647271C>ACA404237320MAN2B1c.2885G>T (p.Arg962Leu)
c.2882G>T (p.Arg961Leu)
n.3475G>T
n.314G>T
n.296G>T
c.444G>T
c.2888G>T (p.Arg963Leu)
c.1784G>T (p.Arg595Leu)
 dbSNP gnomAD v2 COSMIC
19g.12647271C=CA2323498549MAN2B1c.2885G= (p.Arg962=)
c.2882G= (p.Arg961=)
n.3475G=
n.314G=
n.296G=
c.444G=
c.2888G= (p.Arg963=)
c.1784G= (p.Arg595=)
19g.12647271C>GCA404237322MAN2B1c.2885G>C (p.Arg962Pro)
c.2882G>C (p.Arg961Pro)
n.3475G>C
n.314G>C
n.296G>C
c.444G>C
c.2888G>C (p.Arg963Pro)
c.1784G>C (p.Arg595Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.12647271C>TCA9225888MAN2B1c.2885G>A (p.Arg962His)
c.2882G>A (p.Arg961His)
n.3475G>A
n.314G>A
n.296G>A
c.444G>A
c.2888G>A (p.Arg963His)
c.1784G>A (p.Arg595His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12647272G>ACA9225889MAN2B1c.2884C>T (p.Arg962Cys)
c.2881C>T (p.Arg961Cys)
n.3474C>T
n.313C>T
n.295C>T
c.443C>T
c.2887C>T (p.Arg963Cys)
c.1783C>T (p.Arg595Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12647272G>CCA404237325MAN2B1c.2884C>G (p.Arg962Gly)
c.2881C>G (p.Arg961Gly)
n.3474C>G
n.313C>G
n.295C>G
c.443C>G
c.2887C>G (p.Arg963Gly)
c.1783C>G (p.Arg595Gly)
19g.12647272G=CA2323498550MAN2B1c.2884C= (p.Arg962=)
c.2881C= (p.Arg961=)
n.3474C=
n.313C=
n.295C=
c.443C=
c.2887C= (p.Arg963=)
c.1783C= (p.Arg595=)
19g.12647272G>TCA404237327MAN2B1c.2884C>A (p.Arg962Ser)
c.2881C>A (p.Arg961Ser)
n.3474C>A
n.313C>A
n.295C>A
c.443C>A
c.2887C>A (p.Arg963Ser)
c.1783C>A (p.Arg595Ser)
19g.12647273G>ACA505770576MAN2B1c.2883C>T (p.Leu961=)
c.2880C>T (p.Leu960=)
n.3473C>T
n.312C>T
n.294C>T
c.442C>T
c.2886C>T (p.Leu962=)
c.1782C>T (p.Leu594=)
 dbSNP gnomAD v4
19g.12647273G>CCA505770577MAN2B1c.2883C>G (p.Leu961=)
c.2880C>G (p.Leu960=)
n.3473C>G
n.312C>G
n.294C>G
c.442C>G
c.2886C>G (p.Leu962=)
c.1782C>G (p.Leu594=)
19g.12647273G=CA2323498551MAN2B1c.2883C= (p.Leu961=)
c.2880C= (p.Leu960=)
n.3473C=
n.312C=
n.294C=
c.442C=
c.2886C= (p.Leu962=)
c.1782C= (p.Leu594=)
19g.12647273G>TCA505770578MAN2B1c.2883C>A (p.Leu961=)
c.2880C>A (p.Leu960=)
n.3473C>A
n.312C>A
n.294C>A
c.442C>A
c.2886C>A (p.Leu962=)
c.1782C>A (p.Leu594=)
 ClinVar dbSNP gnomAD v4
19g.12647274A=CA2323498552MAN2B1c.2882T= (p.Leu961=)
c.2879T= (p.Leu960=)
n.3472T=
n.311T=
n.293T=
c.441T=
c.2885T= (p.Leu962=)
c.1781T= (p.Leu594=)
19g.12647274A>CCA404237330MAN2B1c.2882T>G (p.Leu961Arg)
c.2879T>G (p.Leu960Arg)
n.3472T>G
n.311T>G
n.293T>G
c.441T>G
c.2885T>G (p.Leu962Arg)
c.1781T>G (p.Leu594Arg)
19g.12647274A>GCA404237331MAN2B1c.2882T>C (p.Leu961Pro)
c.2879T>C (p.Leu960Pro)
n.3472T>C
n.311T>C
n.293T>C
c.441T>C
c.2885T>C (p.Leu962Pro)
c.1781T>C (p.Leu594Pro)
19g.12647274A>TCA404237332MAN2B1c.2882T>A (p.Leu961His)
c.2879T>A (p.Leu960His)
n.3472T>A
n.311T>A
n.293T>A
c.441T>A
c.2885T>A (p.Leu962His)
c.1781T>A (p.Leu594His)
 dbSNP gnomAD v4
19g.12647275G>ACA404237334MAN2B1c.2881C>T (p.Leu961Phe)
c.2878C>T (p.Leu960Phe)
n.3471C>T
n.310C>T
n.292C>T
c.440C>T
c.2884C>T (p.Leu962Phe)
c.1780C>T (p.Leu594Phe)
 gnomAD v4
19g.12647275G>CCA404237335MAN2B1c.2881C>G (p.Leu961Val)
c.2878C>G (p.Leu960Val)
n.3471C>G
n.310C>G
n.292C>G
c.440C>G
c.2884C>G (p.Leu962Val)
c.1780C>G (p.Leu594Val)
19g.12647275G>TCA404237337MAN2B1c.2881C>A (p.Leu961Ile)
c.2878C>A (p.Leu960Ile)
n.3471C>A
n.310C>A
n.292C>A
c.440C>A
c.2884C>A (p.Leu962Ile)
c.1780C>A (p.Leu594Ile)
19g.12647276C>ACA404237339MAN2B1c.2880G>T (p.Gln960His)
c.2877G>T (p.Gln959His)
n.3470G>T
n.309G>T
n.291G>T
c.439G>T
c.2883G>T (p.Gln961His)
c.1779G>T (p.Gln593His)
19g.12647276C>GCA404237341MAN2B1c.2880G>C (p.Gln960His)
c.2877G>C (p.Gln959His)
n.3470G>C
n.309G>C
n.291G>C
c.439G>C
c.2883G>C (p.Gln961His)
c.1779G>C (p.Gln593His)
19g.12647276C>TCA505770580MAN2B1c.2880G>A (p.Gln960=)
c.2877G>A (p.Gln959=)
n.3470G>A
n.309G>A
n.291G>A
c.439G>A
c.2883G>A (p.Gln961=)
c.1779G>A (p.Gln593=)
19g.12647276_12647292delinsCTGGTTGGCCACCAGCGCA2323498553MAN2B1c.2864_2880delinsCGCTGGTGGCCAACCAG (p.Thr955=)
c.2861_2877delinsCGCTGGTGGCCAACCAG (p.Thr954=)
n.3454_3470delinsCGCTGGTGGCCAACCAG
n.293_309delinsCGCTGGTGGCCAACCAG
n.275_291delinsCGCTGGTGGCCAACCAG
c.423_439delinsCGCTGGTGGCCAACCAG
c.2867_2883delinsCGCTGGTGGCCAACCAG (p.Thr956=)
c.1763_1779delinsCGCTGGTGGCCAACCAG (p.Thr588=)
19g.12647277T>ACA404237343MAN2B1c.2879A>T (p.Gln960Leu)
c.2876A>T (p.Gln959Leu)
n.3469A>T
n.308A>T
n.290A>T
c.438A>T
c.2882A>T (p.Gln961Leu)
c.1778A>T (p.Gln593Leu)
19g.12647277T>CCA404237344MAN2B1c.2879A>G (p.Gln960Arg)
c.2876A>G (p.Gln959Arg)
n.3469A>G
n.308A>G
n.290A>G
c.438A>G
c.2882A>G (p.Gln961Arg)
c.1778A>G (p.Gln593Arg)
 ClinVar dbSNP
19g.12647277T>GCA404237347MAN2B1c.2879A>C (p.Gln960Pro)
c.2876A>C (p.Gln959Pro)
n.3469A>C
n.308A>C
n.290A>C
c.438A>C
c.2882A>C (p.Gln961Pro)
c.1778A>C (p.Gln593Pro)
19g.12647277T=CA2323498554MAN2B1c.2879A= (p.Gln960=)
c.2876A= (p.Gln959=)
n.3469A=
n.308A=
n.290A=
c.438A=
c.2882A= (p.Gln961=)
c.1778A= (p.Gln593=)
19g.12647281_12647296delCA915952880MAN2B1c.2864_2879del (p.Thr955SerfsTer?)
c.2861_2876del (p.Thr954SerfsTer?)
n.3454_3469del
n.293_308del
n.275_290del
c.423_438del
c.2867_2882del (p.Thr956SerfsTer?)
c.1763_1778del (p.Thr588SerfsTer?)
 ClinVar dbSNP
19g.12647278G>ACA404237351MAN2B1c.2878C>T (p.Gln960Ter)
c.2875C>T (p.Gln959Ter)
n.3468C>T
n.307C>T
n.289C>T
c.437C>T
c.2881C>T (p.Gln961Ter)
c.1777C>T (p.Gln593Ter)
19g.12647278G>CCA404237350MAN2B1c.2878C>G (p.Gln960Glu)
c.2875C>G (p.Gln959Glu)
n.3468C>G
n.307C>G
n.289C>G
c.437C>G
c.2881C>G (p.Gln961Glu)
c.1777C>G (p.Gln593Glu)
 gnomAD v4
19g.12647278G=CA2323498555MAN2B1c.2878C= (p.Gln960=)
c.2875C= (p.Gln959=)
n.3468C=
n.307C=
n.289C=
c.437C=
c.2881C= (p.Gln961=)
c.1777C= (p.Gln593=)
19g.12647278G>TCA404237349MAN2B1c.2878C>A (p.Gln960Lys)
c.2875C>A (p.Gln959Lys)
n.3468C>A
n.307C>A
n.289C>A
c.437C>A
c.2881C>A (p.Gln961Lys)
c.1777C>A (p.Gln593Lys)
 dbSNP
19g.12647279G>ACA9225890MAN2B1c.2877C>T (p.Asn959=)
c.2874C>T (p.Asn958=)
n.3467C>T
n.306C>T
n.288C>T
c.436C>T
c.2880C>T (p.Asn960=)
c.1776C>T (p.Asn592=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.12647279G>CCA404237354MAN2B1c.2877C>G (p.Asn959Lys)
c.2874C>G (p.Asn958Lys)
n.3467C>G
n.306C>G
n.288C>G
c.436C>G
c.2880C>G (p.Asn960Lys)
c.1776C>G (p.Asn592Lys)
19g.12647279G=CA2323498556MAN2B1c.2877C= (p.Asn959=)
c.2874C= (p.Asn958=)
n.3467C=
n.306C=
n.288C=
c.436C=
c.2880C= (p.Asn960=)
c.1776C= (p.Asn592=)
19g.12647279G>TCA404237356MAN2B1c.2877C>A (p.Asn959Lys)
c.2874C>A (p.Asn958Lys)
n.3467C>A
n.306C>A
n.288C>A
c.436C>A
c.2880C>A (p.Asn960Lys)
c.1776C>A (p.Asn592Lys)
19g.12647280T>ACA404237358MAN2B1c.2876A>T (p.Asn959Ile)
c.2873A>T (p.Asn958Ile)
n.3466A>T
n.305A>T
n.287A>T
c.435A>T
c.2879A>T (p.Asn960Ile)
c.1775A>T (p.Asn592Ile)
19g.12647280T>CCA404237360MAN2B1c.2876A>G (p.Asn959Ser)
c.2873A>G (p.Asn958Ser)
n.3466A>G
n.305A>G
n.287A>G
c.435A>G
c.2879A>G (p.Asn960Ser)
c.1775A>G (p.Asn592Ser)
 dbSNP gnomAD v3 gnomAD v4
19g.12647280T>GCA404237362MAN2B1c.2876A>C (p.Asn959Thr)
c.2873A>C (p.Asn958Thr)
n.3466A>C
n.305A>C
n.287A>C
c.435A>C
c.2879A>C (p.Asn960Thr)
c.1775A>C (p.Asn592Thr)
19g.12647280T=CA2323498557MAN2B1c.2876A= (p.Asn959=)
c.2873A= (p.Asn958=)
n.3466A=
n.305A=
n.287A=
c.435A=
c.2879A= (p.Asn960=)
c.1775A= (p.Asn592=)
19g.12647281T>ACA404237365MAN2B1c.2875A>T (p.Asn959Tyr)
c.2872A>T (p.Asn958Tyr)
n.3465A>T
n.304A>T
n.286A>T
c.434A>T
c.2878A>T (p.Asn960Tyr)
c.1774A>T (p.Asn592Tyr)
19g.12647281T>CCA404237366MAN2B1c.2875A>G (p.Asn959Asp)
c.2872A>G (p.Asn958Asp)
n.3465A>G
n.304A>G
n.286A>G
c.434A>G
c.2878A>G (p.Asn960Asp)
c.1774A>G (p.Asn592Asp)
19g.12647281T>GCA404237367MAN2B1c.2875A>C (p.Asn959His)
c.2872A>C (p.Asn958His)
n.3465A>C
n.304A>C
n.286A>C
c.434A>C
c.2878A>C (p.Asn960His)
c.1774A>C (p.Asn592His)
19g.12647282G>ACA505770583MAN2B1c.2874C>T (p.Ala958=)
c.2871C>T (p.Ala957=)
n.3464C>T
n.303C>T
n.285C>T
c.433C>T
c.2877C>T (p.Ala959=)
c.1773C>T (p.Ala591=)
19g.12647282G>CCA505770584MAN2B1c.2874C>G (p.Ala958=)
c.2871C>G (p.Ala957=)
n.3464C>G
n.303C>G
n.285C>G
c.433C>G
c.2877C>G (p.Ala959=)
c.1773C>G (p.Ala591=)
19g.12647282G>TCA505770585MAN2B1c.2874C>A (p.Ala958=)
c.2871C>A (p.Ala957=)
n.3464C>A
n.303C>A
n.285C>A
c.433C>A
c.2877C>A (p.Ala959=)
c.1773C>A (p.Ala591=)
19g.12647283G>ACA404237370MAN2B1c.2873C>T (p.Ala958Val)
c.2870C>T (p.Ala957Val)
n.3463C>T
n.302C>T
n.284C>T
c.432C>T
c.2876C>T (p.Ala959Val)
c.1772C>T (p.Ala591Val)
 gnomAD v4
19g.12647283G>CCA404237371MAN2B1c.2873C>G (p.Ala958Gly)
c.2870C>G (p.Ala957Gly)
n.3463C>G
n.302C>G
n.284C>G
c.432C>G
c.2876C>G (p.Ala959Gly)
c.1772C>G (p.Ala591Gly)
 dbSNP gnomAD v3 gnomAD v4
19g.12647283G=CA2323498558MAN2B1c.2873C= (p.Ala958=)
c.2870C= (p.Ala957=)
n.3463C=
n.302C=
n.284C=
c.432C=
c.2876C= (p.Ala959=)
c.1772C= (p.Ala591=)
19g.12647283G>TCA404237372MAN2B1c.2873C>A (p.Ala958Asp)
c.2870C>A (p.Ala957Asp)
n.3463C>A
n.302C>A
n.284C>A
c.432C>A
c.2876C>A (p.Ala959Asp)
c.1772C>A (p.Ala591Asp)
19g.12647284C>ACA404237376MAN2B1c.2872G>T (p.Ala958Ser)
c.2869G>T (p.Ala957Ser)
n.3462G>T
n.301G>T
n.283G>T
c.431G>T
c.2875G>T (p.Ala959Ser)
c.1771G>T (p.Ala591Ser)
19g.12647284C>GCA404237378MAN2B1c.2872G>C (p.Ala958Pro)
c.2869G>C (p.Ala957Pro)
n.3462G>C
n.301G>C
n.283G>C
c.431G>C
c.2875G>C (p.Ala959Pro)
c.1771G>C (p.Ala591Pro)
19g.12647284C>TCA404237374MAN2B1c.2872G>A (p.Ala958Thr)
c.2869G>A (p.Ala957Thr)
n.3462G>A
n.301G>A
n.283G>A
c.431G>A
c.2875G>A (p.Ala959Thr)
c.1771G>A (p.Ala591Thr)
19g.12647284_12647377dupCA920061303MAN2B1c.2821-42_2872dup
c.2818-42_2869dup
n.3411-42_3462dup
n.208_301dup
n.232-42_283dup
c.380-42_431dup
c.2824-42_2875dup
c.1720-42_1771dup
 dbSNP gnomAD v4
19g.12647285C>ACA505770588MAN2B1c.2871G>T (p.Val957=)
c.2868G>T (p.Val956=)
n.3461G>T
n.300G>T
n.282G>T
c.430G>T
c.2874G>T (p.Val958=)
c.1770G>T (p.Val590=)
19g.12647285C>GCA505770589MAN2B1c.2871G>C (p.Val957=)
c.2868G>C (p.Val956=)
n.3461G>C
n.300G>C
n.282G>C
c.430G>C
c.2874G>C (p.Val958=)
c.1770G>C (p.Val590=)
19g.12647285C>TCA505770590MAN2B1c.2871G>A (p.Val957=)
c.2868G>A (p.Val956=)
n.3461G>A
n.300G>A
n.282G>A
c.430G>A
c.2874G>A (p.Val958=)
c.1770G>A (p.Val590=)
19g.12647286A=CA2323498559MAN2B1c.2870T= (p.Val957=)
c.2867T= (p.Val956=)
n.3460T=
n.299T=
n.281T=
c.429T=
c.2873T= (p.Val958=)
c.1769T= (p.Val590=)
19g.12647286A>CCA404237379MAN2B1c.2870T>G (p.Val957Gly)
c.2867T>G (p.Val956Gly)
n.3460T>G
n.299T>G
n.281T>G
c.429T>G
c.2873T>G (p.Val958Gly)
c.1769T>G (p.Val590Gly)
19g.12647286A>GCA9225891MAN2B1c.2870T>C (p.Val957Ala)
c.2867T>C (p.Val956Ala)
n.3460T>C
n.299T>C
n.281T>C
c.429T>C
c.2873T>C (p.Val958Ala)
c.1769T>C (p.Val590Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.12647286A>TCA404237382MAN2B1c.2870T>A (p.Val957Glu)
c.2867T>A (p.Val956Glu)
n.3460T>A
n.299T>A
n.281T>A
c.429T>A
c.2873T>A (p.Val958Glu)
c.1769T>A (p.Val590Glu)
19g.12647286_12647287delinsACCA2323498560MAN2B1c.2869_2870delinsGT (p.Val957=)
c.2866_2867delinsGT (p.Val956=)
n.3459_3460delinsGT
n.298_299delinsGT
n.280_281delinsGT
c.428_429delinsGT
c.2872_2873delinsGT (p.Val958=)
c.1768_1769delinsGT (p.Val590=)
19g.12647287C>ACA404237384MAN2B1c.2869G>T (p.Val957Leu)
c.2866G>T (p.Val956Leu)
n.3459G>T
n.298G>T
n.280G>T
c.428G>T
c.2872G>T (p.Val958Leu)
c.1768G>T (p.Val590Leu)
 dbSNP gnomAD v3 gnomAD v4
19g.12647287C=CA2323498561MAN2B1c.2869G= (p.Val957=)
c.2866G= (p.Val956=)
n.3459G=
n.298G=
n.280G=
c.428G=
c.2872G= (p.Val958=)
c.1768G= (p.Val590=)
19g.12647287C>GCA404237386MAN2B1c.2869G>C (p.Val957Leu)
c.2866G>C (p.Val956Leu)
n.3459G>C
n.298G>C
n.280G>C
c.428G>C
c.2872G>C (p.Val958Leu)
c.1768G>C (p.Val590Leu)
19g.12647287C>TCA404237388MAN2B1c.2869G>A (p.Val957Met)
c.2866G>A (p.Val956Met)
n.3459G>A
n.298G>A
n.280G>A
c.428G>A
c.2872G>A (p.Val958Met)
c.1768G>A (p.Val590Met)
19g.12647288delCA632119523MAN2B1c.2869del (p.Val957TrpfsTer?)
c.2866del (p.Val956TrpfsTer?)
n.3459del
n.298del
n.280del
c.428del
c.2872del (p.Val958TrpfsTer?)
c.1768del (p.Val590TrpfsTer?)
 dbSNP gnomAD v2 gnomAD v4
19g.12647288C>ACA505770595MAN2B1c.2868G>T (p.Leu956=)
c.2865G>T (p.Leu955=)
n.3458G>T
n.297G>T
n.279G>T
c.427G>T
c.2871G>T (p.Leu957=)
c.1767G>T (p.Leu589=)
19g.12647288C=CA2323498562MAN2B1c.2868G= (p.Leu956=)
c.2865G= (p.Leu955=)
n.3458G=
n.297G=
n.279G=
c.427G=
c.2871G= (p.Leu957=)
c.1767G= (p.Leu589=)
19g.12647288C>GCA505770596MAN2B1c.2868G>C (p.Leu956=)
c.2865G>C (p.Leu955=)
n.3458G>C
n.297G>C
n.279G>C
c.427G>C
c.2871G>C (p.Leu957=)
c.1767G>C (p.Leu589=)
 dbSNP gnomAD v2 gnomAD v4
19g.12647288C>TCA505770597MAN2B1c.2868G>A (p.Leu956=)
c.2865G>A (p.Leu955=)
n.3458G>A
n.297G>A
n.279G>A
c.427G>A
c.2871G>A (p.Leu957=)
c.1767G>A (p.Leu589=)
 gnomAD v4
19g.12647289A=CA2323498563MAN2B1c.2867T= (p.Leu956=)
c.2864T= (p.Leu955=)
n.3457T=
n.296T=
n.278T=
c.426T=
c.2870T= (p.Leu957=)
c.1766T= (p.Leu589=)
19g.12647289A>CCA350887MAN2B1c.2867T>G (p.Leu956Arg)
c.2864T>G (p.Leu955Arg)
n.3457T>G
n.296T>G
n.278T>G
c.426T>G
c.2870T>G (p.Leu957Arg)
c.1766T>G (p.Leu589Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.12647289A>GCA404237393MAN2B1c.2867T>C (p.Leu956Pro)
c.2864T>C (p.Leu955Pro)
n.3457T>C
n.296T>C
n.278T>C
c.426T>C
c.2870T>C (p.Leu957Pro)
c.1766T>C (p.Leu589Pro)
 gnomAD v4
19g.12647289A>TCA404237391MAN2B1c.2867T>A (p.Leu956Gln)
c.2864T>A (p.Leu955Gln)
n.3457T>A
n.296T>A
n.278T>A
c.426T>A
c.2870T>A (p.Leu957Gln)
c.1766T>A (p.Leu589Gln)
19g.12647290G>ACA505770603MAN2B1c.2866C>T (p.Leu956=)
c.2863C>T (p.Leu955=)
n.3456C>T
n.295C>T
n.277C>T
c.425C>T
c.2869C>T (p.Leu957=)
c.1765C>T (p.Leu589=)
19g.12647290G>CCA404237394MAN2B1c.2866C>G (p.Leu956Val)
c.2863C>G (p.Leu955Val)
n.3456C>G
n.295C>G
n.277C>G
c.425C>G
c.2869C>G (p.Leu957Val)
c.1765C>G (p.Leu589Val)
19g.12647290G>TCA404237396MAN2B1c.2866C>A (p.Leu956Met)
c.2863C>A (p.Leu955Met)
n.3456C>A
n.295C>A
n.277C>A
c.425C>A
c.2869C>A (p.Leu957Met)
c.1765C>A (p.Leu589Met)
19g.12647291C>ACA505770604MAN2B1c.2865G>T (p.Thr955=)
c.2862G>T (p.Thr954=)
n.3455G>T
n.294G>T
n.276G>T
c.424G>T
c.2868G>T (p.Thr956=)
c.1764G>T (p.Thr588=)
19g.12647291C=CA2323498564MAN2B1c.2865G= (p.Thr955=)
c.2862G= (p.Thr954=)
n.3455G=
n.294G=
n.276G=
c.424G=
c.2868G= (p.Thr956=)
c.1764G= (p.Thr588=)
19g.12647291C>GCA221085MAN2B1c.2865G>C (p.Thr955=)
c.2862G>C (p.Thr954=)
n.3455G>C
n.294G>C
n.276G>C
c.424G>C
c.2868G>C (p.Thr956=)
c.1764G>C (p.Thr588=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12647291C>TCA9225892MAN2B1c.2865G>A (p.Thr955=)
c.2862G>A (p.Thr954=)
n.3455G>A
n.294G>A
n.276G>A
c.424G>A
c.2868G>A (p.Thr956=)
c.1764G>A (p.Thr588=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12647292G>ACA9225893MAN2B1c.2864C>T (p.Thr955Met)
c.2861C>T (p.Thr954Met)
n.3454C>T
n.293C>T
n.275C>T
c.423C>T
c.2867C>T (p.Thr956Met)
c.1763C>T (p.Thr588Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.12647292G>CCA404237403MAN2B1c.2864C>G (p.Thr955Arg)
c.2861C>G (p.Thr954Arg)
n.3454C>G
n.293C>G
n.275C>G
c.423C>G
c.2867C>G (p.Thr956Arg)
c.1763C>G (p.Thr588Arg)
19g.12647292G=CA2323498565MAN2B1c.2864C= (p.Thr955=)
c.2861C= (p.Thr954=)
n.3454C=
n.293C=
n.275C=
c.423C=
c.2867C= (p.Thr956=)
c.1763C= (p.Thr588=)
19g.12647292G>TCA404237401MAN2B1c.2864C>A (p.Thr955Lys)
c.2861C>A (p.Thr954Lys)
n.3454C>A
n.293C>A
n.275C>A
c.423C>A
c.2867C>A (p.Thr956Lys)
c.1763C>A (p.Thr588Lys)
19g.12647293T>ACA404237406MAN2B1c.2863A>T (p.Thr955Ser)
c.2860A>T (p.Thr954Ser)
n.3453A>T
n.292A>T
n.274A>T
c.422A>T
c.2866A>T (p.Thr956Ser)
c.1762A>T (p.Thr588Ser)
19g.12647293T>CCA404237409MAN2B1c.2863A>G (p.Thr955Ala)
c.2860A>G (p.Thr954Ala)
n.3453A>G
n.292A>G
n.274A>G
c.422A>G
c.2866A>G (p.Thr956Ala)
c.1762A>G (p.Thr588Ala)
 gnomAD v4
19g.12647293T>GCA404237408MAN2B1c.2863A>C (p.Thr955Pro)
c.2860A>C (p.Thr954Pro)
n.3453A>C
n.292A>C
n.274A>C
c.422A>C
c.2866A>C (p.Thr956Pro)
c.1762A>C (p.Thr588Pro)
19g.12647294G>ACA505770610MAN2B1c.2862C>T (p.Thr954=)
c.2859C>T (p.Thr953=)
n.3452C>T
n.291C>T
n.273C>T
c.421C>T
c.2865C>T (p.Thr955=)
c.1761C>T (p.Thr587=)
 ClinVar dbSNP
19g.12647294G>CCA505770611MAN2B1c.2862C>G (p.Thr954=)
c.2859C>G (p.Thr953=)
n.3452C>G
n.291C>G
n.273C>G
c.421C>G
c.2865C>G (p.Thr955=)
c.1761C>G (p.Thr587=)
 ClinVar
19g.12647294G>TCA505770612MAN2B1c.2862C>A (p.Thr954=)
c.2859C>A (p.Thr953=)
n.3452C>A
n.291C>A
n.273C>A
c.421C>A
c.2865C>A (p.Thr955=)
c.1761C>A (p.Thr587=)
19g.12647295G>ACA404237412MAN2B1c.2861C>T (p.Thr954Ile)
c.2858C>T (p.Thr953Ile)
n.3451C>T
n.290C>T
n.272C>T
c.420C>T
c.2864C>T (p.Thr955Ile)
c.1760C>T (p.Thr587Ile)
 gnomAD v4
19g.12647295G>CCA404237415MAN2B1c.2861C>G (p.Thr954Ser)
c.2858C>G (p.Thr953Ser)
n.3451C>G
n.290C>G
n.272C>G
c.420C>G
c.2864C>G (p.Thr955Ser)
c.1760C>G (p.Thr587Ser)
19g.12647295G>TCA404237414MAN2B1c.2861C>A (p.Thr954Asn)
c.2858C>A (p.Thr953Asn)
n.3451C>A
n.290C>A
n.272C>A
c.420C>A
c.2864C>A (p.Thr955Asn)
c.1760C>A (p.Thr587Asn)
19g.12647296T>ACA404237417MAN2B1c.2860A>T (p.Thr954Ser)
c.2857A>T (p.Thr953Ser)
n.3450A>T
n.289A>T
n.271A>T
c.419A>T
c.2863A>T (p.Thr955Ser)
c.1759A>T (p.Thr587Ser)
19g.12647296T>CCA404237419MAN2B1c.2860A>G (p.Thr954Ala)
c.2857A>G (p.Thr953Ala)
n.3450A>G
n.289A>G
n.271A>G
c.419A>G
c.2863A>G (p.Thr955Ala)
c.1759A>G (p.Thr587Ala)
19g.12647296T>GCA404237421MAN2B1c.2860A>C (p.Thr954Pro)
c.2857A>C (p.Thr953Pro)
n.3450A>C
n.289A>C
n.271A>C
c.419A>C
c.2863A>C (p.Thr955Pro)
c.1759A>C (p.Thr587Pro)
19g.12647297C>ACA404237423MAN2B1c.2859G>T (p.Glu953Asp)
c.2856G>T (p.Glu952Asp)
n.3449G>T
n.288G>T
n.270G>T
c.418G>T
c.2862G>T (p.Glu954Asp)
c.1758G>T (p.Glu586Asp)
 dbSNP gnomAD v2 gnomAD v4
19g.12647297C=CA2323498566MAN2B1c.2859G= (p.Glu953=)
c.2856G= (p.Glu952=)
n.3449G=
n.288G=
n.270G=
c.418G=
c.2862G= (p.Glu954=)
c.1758G= (p.Glu586=)
19g.12647297C>GCA404237425MAN2B1c.2859G>C (p.Glu953Asp)
c.2856G>C (p.Glu952Asp)
n.3449G>C
n.288G>C
n.270G>C
c.418G>C
c.2862G>C (p.Glu954Asp)
c.1758G>C (p.Glu586Asp)
19g.12647297C>TCA505770615MAN2B1c.2859G>A (p.Glu953=)
c.2856G>A (p.Glu952=)
n.3449G>A
n.288G>A
n.270G>A
c.418G>A
c.2862G>A (p.Glu954=)
c.1758G>A (p.Glu586=)
19g.12647298T>ACA404237426MAN2B1c.2858A>T (p.Glu953Val)
c.2855A>T (p.Glu952Val)
n.3448A>T
n.287A>T
n.269A>T
c.417A>T
c.2861A>T (p.Glu954Val)
c.1757A>T (p.Glu586Val)
19g.12647298T>CCA404237428MAN2B1c.2858A>G (p.Glu953Gly)
c.2855A>G (p.Glu952Gly)
n.3448A>G
n.287A>G
n.269A>G
c.417A>G
c.2861A>G (p.Glu954Gly)
c.1757A>G (p.Glu586Gly)
19g.12647298T>GCA404237430MAN2B1c.2858A>C (p.Glu953Ala)
c.2855A>C (p.Glu952Ala)
n.3448A>C
n.287A>C
n.269A>C
c.417A>C
c.2861A>C (p.Glu954Ala)
c.1757A>C (p.Glu586Ala)
19g.12647299C>ACA404237432MAN2B1c.2857G>T (p.Glu953Ter)
c.2854G>T (p.Glu952Ter)
n.3447G>T
n.286G>T
n.268G>T
c.416G>T
c.2860G>T (p.Glu954Ter)
c.1756G>T (p.Glu586Ter)
19g.12647299C>GCA404237433MAN2B1c.2857G>C (p.Glu953Gln)
c.2854G>C (p.Glu952Gln)
n.3447G>C
n.286G>C
n.268G>C
c.416G>C
c.2860G>C (p.Glu954Gln)
c.1756G>C (p.Glu586Gln)
19g.12647299C>TCA404237435MAN2B1c.2857G>A (p.Glu953Lys)
c.2854G>A (p.Glu952Lys)
n.3447G>A
n.286G>A
n.268G>A
c.416G>A
c.2860G>A (p.Glu954Lys)
c.1756G>A (p.Glu586Lys)
 gnomAD v4
19g.12647300C>ACA404237439MAN2B1c.2856G>T (p.Gln952His)
c.2853G>T (p.Gln951His)
n.3446G>T
n.285G>T
n.267G>T
c.415G>T
c.2859G>T (p.Gln953His)
c.1755G>T (p.Gln585His)
19g.12647300C=CA2323498567MAN2B1c.2856G= (p.Gln952=)
c.2853G= (p.Gln951=)
n.3446G=
n.285G=
n.267G=
c.415G=
c.2859G= (p.Gln953=)
c.1755G= (p.Gln585=)
19g.12647300C>GCA404237438MAN2B1c.2856G>C (p.Gln952His)
c.2853G>C (p.Gln951His)
n.3446G>C
n.285G>C
n.267G>C
c.415G>C
c.2859G>C (p.Gln953His)
c.1755G>C (p.Gln585His)
19g.12647300C>TCA505770621MAN2B1c.2856G>A (p.Gln952=)
c.2853G>A (p.Gln951=)
n.3446G>A
n.285G>A
n.267G>A
c.415G>A
c.2859G>A (p.Gln953=)
c.1755G>A (p.Gln585=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.12647301T>ACA404237442MAN2B1c.2855A>T (p.Gln952Leu)
c.2852A>T (p.Gln951Leu)
n.3445A>T
n.284A>T
n.266A>T
c.414A>T
c.2858A>T (p.Gln953Leu)
c.1754A>T (p.Gln585Leu)
19g.12647301T>CCA404237443MAN2B1c.2855A>G (p.Gln952Arg)
c.2852A>G (p.Gln951Arg)
n.3445A>G
n.284A>G
n.266A>G
c.414A>G
c.2858A>G (p.Gln953Arg)
c.1754A>G (p.Gln585Arg)
19g.12647301T>GCA404237445MAN2B1c.2855A>C (p.Gln952Pro)
c.2852A>C (p.Gln951Pro)
n.3445A>C
n.284A>C
n.266A>C
c.414A>C
c.2858A>C (p.Gln953Pro)
c.1754A>C (p.Gln585Pro)
19g.12647302G>ACA404237448MAN2B1c.2854C>T (p.Gln952Ter)
c.2851C>T (p.Gln951Ter)
n.3444C>T
n.283C>T
n.265C>T
c.413C>T
c.2857C>T (p.Gln953Ter)
c.1753C>T (p.Gln585Ter)
19g.12647302G>CCA404237449MAN2B1c.2854C>G (p.Gln952Glu)
c.2851C>G (p.Gln951Glu)
n.3444C>G
n.283C>G
n.265C>G
c.413C>G
c.2857C>G (p.Gln953Glu)
c.1753C>G (p.Gln585Glu)
19g.12647302G>TCA404237451MAN2B1c.2854C>A (p.Gln952Lys)
c.2851C>A (p.Gln951Lys)
n.3444C>A
n.283C>A
n.265C>A
c.413C>A
c.2857C>A (p.Gln953Lys)
c.1753C>A (p.Gln585Lys)
19g.12647303C>ACA505770625MAN2B1c.2853G>T (p.Leu951=)
c.2850G>T (p.Leu950=)
n.3443G>T
n.282G>T
n.264G>T
c.412G>T
c.2856G>T (p.Leu952=)
c.1752G>T (p.Leu584=)
19g.12647303C>GCA505770626MAN2B1c.2853G>C (p.Leu951=)
c.2850G>C (p.Leu950=)
n.3443G>C
n.282G>C
n.264G>C
c.412G>C
c.2856G>C (p.Leu952=)
c.1752G>C (p.Leu584=)
19g.12647303C>TCA505770627MAN2B1c.2853G>A (p.Leu951=)
c.2850G>A (p.Leu950=)
n.3443G>A
n.282G>A
n.264G>A
c.412G>A
c.2856G>A (p.Leu952=)
c.1752G>A (p.Leu584=)
 ClinVar dbSNP
19g.12647304A>CCA404237453MAN2B1c.2852T>G (p.Leu951Arg)
c.2849T>G (p.Leu950Arg)
n.3442T>G
n.281T>G
n.263T>G
c.411T>G
c.2855T>G (p.Leu952Arg)
c.1751T>G (p.Leu584Arg)
19g.12647304A>GCA404237455MAN2B1c.2852T>C (p.Leu951Pro)
c.2849T>C (p.Leu950Pro)
n.3442T>C
n.281T>C
n.263T>C
c.411T>C
c.2855T>C (p.Leu952Pro)
c.1751T>C (p.Leu584Pro)
19g.12647304A>TCA404237457MAN2B1c.2852T>A (p.Leu951Gln)
c.2849T>A (p.Leu950Gln)
n.3442T>A
n.281T>A
n.263T>A
c.411T>A
c.2855T>A (p.Leu952Gln)
c.1751T>A (p.Leu584Gln)
19g.12647305G>ACA505770631MAN2B1c.2851C>T (p.Leu951=)
c.2848C>T (p.Leu950=)
n.3441C>T
n.280C>T
n.262C>T
c.410C>T
c.2854C>T (p.Leu952=)
c.1750C>T (p.Leu584=)
19g.12647305G>CCA404237462MAN2B1c.2851C>G (p.Leu951Val)
c.2848C>G (p.Leu950Val)
n.3441C>G
n.280C>G
n.262C>G
c.410C>G
c.2854C>G (p.Leu952Val)
c.1750C>G (p.Leu584Val)
19g.12647305G>TCA404237463MAN2B1c.2851C>A (p.Leu951Met)
c.2848C>A (p.Leu950Met)
n.3441C>A
n.280C>A
n.262C>A
c.410C>A
c.2854C>A (p.Leu952Met)
c.1750C>A (p.Leu584Met)
19g.12647306delCA2695228379MAN2B1c.2851del (p.Leu951CysfsTer?)
c.2848del (p.Leu950CysfsTer?)
n.3441del
n.280del
n.262del
c.410del
c.2854del (p.Leu952CysfsTer?)
c.1750del (p.Leu584CysfsTer?)
19g.12647306G>ACA505770633MAN2B1c.2850C>T (p.Arg950=)
c.2847C>T (p.Arg949=)
n.3440C>T
n.279C>T
n.261C>T
c.409C>T
c.2853C>T (p.Arg951=)
c.1749C>T (p.Arg583=)
 ClinVar dbSNP
19g.12647306G>CCA505770634MAN2B1c.2850C>G (p.Arg950=)
c.2847C>G (p.Arg949=)
n.3440C>G
n.279C>G
n.261C>G
c.409C>G
c.2853C>G (p.Arg951=)
c.1749C>G (p.Arg583=)
19g.12647306G>TCA505770636MAN2B1c.2850C>A (p.Arg950=)
c.2847C>A (p.Arg949=)
n.3440C>A
n.279C>A
n.261C>A
c.409C>A
c.2853C>A (p.Arg951=)
c.1749C>A (p.Arg583=)
 ClinVar dbSNP
19g.12647307C>ACA404237468MAN2B1c.2849G>T (p.Arg950Leu)
c.2846G>T (p.Arg949Leu)
n.3439G>T
n.278G>T
n.260G>T
c.408G>T
c.2852G>T (p.Arg951Leu)
c.1748G>T (p.Arg583Leu)
 dbSNP gnomAD v3 gnomAD v4
19g.12647307C=CA2323498568MAN2B1c.2849G= (p.Arg950=)
c.2846G= (p.Arg949=)
n.3439G=
n.278G=
n.260G=
c.408G=
c.2852G= (p.Arg951=)
c.1748G= (p.Arg583=)
19g.12647307C>GCA350975MAN2B1c.2849G>C (p.Arg950Pro)
c.2846G>C (p.Arg949Pro)
n.3439G>C
n.278G>C
n.260G>C
c.408G>C
c.2852G>C (p.Arg951Pro)
c.1748G>C (p.Arg583Pro)
 ClinVar dbSNP gnomAD v4
19g.12647307C>TCA9225894MAN2B1c.2849G>A (p.Arg950His)
c.2846G>A (p.Arg949His)
n.3439G>A
n.278G>A
n.260G>A
c.408G>A
c.2852G>A (p.Arg951His)
c.1748G>A (p.Arg583His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.12647308G>ACA9225895MAN2B1c.2848C>T (p.Arg950Cys)
c.2845C>T (p.Arg949Cys)
n.3438C>T
n.277C>T
n.259C>T
c.407C>T
c.2851C>T (p.Arg951Cys)
c.1747C>T (p.Arg583Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12647308G>CCA404237470MAN2B1c.2848C>G (p.Arg950Gly)
c.2845C>G (p.Arg949Gly)
n.3438C>G
n.277C>G
n.259C>G
c.407C>G
c.2851C>G (p.Arg951Gly)
c.1747C>G (p.Arg583Gly)
19g.12647308G=CA2323498570MAN2B1c.2848C= (p.Arg950=)
c.2845C= (p.Arg949=)
n.3438C=
n.277C=
n.259C=
c.407C=
c.2851C= (p.Arg951=)
c.1747C= (p.Arg583=)
19g.12647308G>TCA404237472MAN2B1c.2848C>A (p.Arg950Ser)
c.2845C>A (p.Arg949Ser)
n.3438C>A
n.277C>A
n.259C>A
c.407C>A
c.2851C>A (p.Arg951Ser)
c.1747C>A (p.Arg583Ser)
 gnomAD v4
19g.12647309_12647310dupCA2323498569MAN2B1c.2847_2848dup (p.Arg950ProfsTer?)
c.2844_2845dup (p.Arg949ProfsTer?)
n.3437_3438dup
n.276_277dup
n.258_259dup
c.406_407dup
c.2850_2851dup (p.Arg951ProfsTer?)
c.1746_1747dup (p.Arg583ProfsTer?)
 dbSNP
19g.12647309G>ACA505770642MAN2B1c.2847C>T (p.Thr949=)
c.2844C>T (p.Thr948=)
n.3437C>T
n.276C>T
n.258C>T
c.406C>T
c.2850C>T (p.Thr950=)
c.1746C>T (p.Thr582=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.12647309G>CCA505770643MAN2B1c.2847C>G (p.Thr949=)
c.2844C>G (p.Thr948=)
n.3437C>G
n.276C>G
n.258C>G
c.406C>G
c.2850C>G (p.Thr950=)
c.1746C>G (p.Thr582=)
19g.12647309G=CA2323498571MAN2B1c.2847C= (p.Thr949=)
c.2844C= (p.Thr948=)
n.3437C=
n.276C=
n.258C=
c.406C=
c.2850C= (p.Thr950=)
c.1746C= (p.Thr582=)
19g.12647309G>TCA505770645MAN2B1c.2847C>A (p.Thr949=)
c.2844C>A (p.Thr948=)
n.3437C>A
n.276C>A
n.258C>A
c.406C>A
c.2850C>A (p.Thr950=)
c.1746C>A (p.Thr582=)
 gnomAD v4
19g.12647310G>ACA9225896MAN2B1c.2846C>T (p.Thr949Ile)
c.2843C>T (p.Thr948Ile)
n.3436C>T
n.275C>T
n.257C>T
c.405C>T
c.2849C>T (p.Thr950Ile)
c.1745C>T (p.Thr582Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12647310G>CCA404237475MAN2B1c.2846C>G (p.Thr949Ser)
c.2843C>G (p.Thr948Ser)
n.3436C>G
n.275C>G
n.257C>G
c.405C>G
c.2849C>G (p.Thr950Ser)
c.1745C>G (p.Thr582Ser)
19g.12647310G=CA2323498572MAN2B1c.2846C= (p.Thr949=)
c.2843C= (p.Thr948=)
n.3436C=
n.275C=
n.257C=
c.405C=
c.2849C= (p.Thr950=)
c.1745C= (p.Thr582=)
19g.12647310G>TCA404237477MAN2B1c.2846C>A (p.Thr949Asn)
c.2843C>A (p.Thr948Asn)
n.3436C>A
n.275C>A
n.257C>A
c.405C>A
c.2849C>A (p.Thr950Asn)
c.1745C>A (p.Thr582Asn)
19g.12647311T>ACA404237479MAN2B1c.2845A>T (p.Thr949Ser)
c.2842A>T (p.Thr948Ser)
n.3435A>T
n.274A>T
n.256A>T
c.404A>T
c.2848A>T (p.Thr950Ser)
c.1744A>T (p.Thr582Ser)
19g.12647311T>CCA404237480MAN2B1c.2845A>G (p.Thr949Ala)
c.2842A>G (p.Thr948Ala)
n.3435A>G
n.274A>G
n.256A>G
c.404A>G
c.2848A>G (p.Thr950Ala)
c.1744A>G (p.Thr582Ala)
19g.12647311T>GCA404237483MAN2B1c.2845A>C (p.Thr949Pro)
c.2842A>C (p.Thr948Pro)
n.3435A>C
n.274A>C
n.256A>C
c.404A>C
c.2848A>C (p.Thr950Pro)
c.1744A>C (p.Thr582Pro)
 dbSNP
19g.12647312G>ACA505770648MAN2B1c.2844C>T (p.Ile948=)
c.2841C>T (p.Ile947=)
n.3434C>T
n.273C>T
n.255C>T
c.403C>T
c.2847C>T (p.Ile949=)
c.1743C>T (p.Ile581=)
 ClinVar dbSNP
19g.12647312G>CCA404237485MAN2B1c.2844C>G (p.Ile948Met)
c.2841C>G (p.Ile947Met)
n.3434C>G
n.273C>G
n.255C>G
c.403C>G
c.2847C>G (p.Ile949Met)
c.1743C>G (p.Ile581Met)
19g.12647312G=CA2323498573MAN2B1c.2844C= (p.Ile948=)
c.2841C= (p.Ile947=)
n.3434C=
n.273C=
n.255C=
c.403C=
c.2847C= (p.Ile949=)
c.1743C= (p.Ile581=)
19g.12647312G>TCA505770649MAN2B1c.2844C>A (p.Ile948=)
c.2841C>A (p.Ile947=)
n.3434C>A
n.273C>A
n.255C>A
c.403C>A
c.2847C>A (p.Ile949=)
c.1743C>A (p.Ile581=)
19g.12647313A>CCA404237487MAN2B1c.2843T>G (p.Ile948Ser)
c.2840T>G (p.Ile947Ser)
n.3433T>G
n.272T>G
n.254T>G
c.402T>G
c.2846T>G (p.Ile949Ser)
c.1742T>G (p.Ile581Ser)
19g.12647313A>GCA404237489MAN2B1c.2843T>C (p.Ile948Thr)
c.2840T>C (p.Ile947Thr)
n.3433T>C
n.272T>C
n.254T>C
c.402T>C
c.2846T>C (p.Ile949Thr)
c.1742T>C (p.Ile581Thr)
19g.12647313A>TCA404237491MAN2B1c.2843T>A (p.Ile948Asn)
c.2840T>A (p.Ile947Asn)
n.3433T>A
n.272T>A
n.254T>A
c.402T>A
c.2846T>A (p.Ile949Asn)
c.1742T>A (p.Ile581Asn)
19g.12647314T>ACA404237493MAN2B1c.2842A>T (p.Ile948Phe)
c.2839A>T (p.Ile947Phe)
n.3432A>T
n.271A>T
n.253A>T
c.401A>T
c.2845A>T (p.Ile949Phe)
c.1741A>T (p.Ile581Phe)
19g.12647314T>CCA404237497MAN2B1c.2842A>G (p.Ile948Val)
c.2839A>G (p.Ile947Val)
n.3432A>G
n.271A>G
n.253A>G
c.401A>G
c.2845A>G (p.Ile949Val)
c.1741A>G (p.Ile581Val)
 COSMIC
19g.12647314T>GCA404237495MAN2B1c.2842A>C (p.Ile948Leu)
c.2839A>C (p.Ile947Leu)
n.3432A>C
n.271A>C
n.253A>C
c.401A>C
c.2845A>C (p.Ile949Leu)
c.1741A>C (p.Ile581Leu)
19g.12647315G>ACA505770652MAN2B1c.2841C>T (p.Thr947=)
c.2838C>T (p.Thr946=)
n.3431C>T
n.270C>T
n.252C>T
c.400C>T
c.2844C>T (p.Thr948=)
c.1740C>T (p.Thr580=)
 gnomAD v4
19g.12647315G>CCA505770653MAN2B1c.2841C>G (p.Thr947=)
c.2838C>G (p.Thr946=)
n.3431C>G
n.270C>G
n.252C>G
c.400C>G
c.2844C>G (p.Thr948=)
c.1740C>G (p.Thr580=)
19g.12647315G=CA2323498574MAN2B1c.2841C= (p.Thr947=)
c.2838C= (p.Thr946=)
n.3431C=
n.270C=
n.252C=
c.400C=
c.2844C= (p.Thr948=)
c.1740C= (p.Thr580=)
19g.12647315G>TCA505770654MAN2B1c.2841C>A (p.Thr947=)
c.2838C>A (p.Thr946=)
n.3431C>A
n.270C>A
n.252C>A
c.400C>A
c.2844C>A (p.Thr948=)
c.1740C>A (p.Thr580=)
 ClinVar dbSNP
19g.12647316G>ACA404237499MAN2B1c.2840C>T (p.Thr947Ile)
c.2837C>T (p.Thr946Ile)
n.3430C>T
n.269C>T
n.251C>T
c.399C>T
c.2843C>T (p.Thr948Ile)
c.1739C>T (p.Thr580Ile)
 gnomAD v4
19g.12647316G>CCA404237500MAN2B1c.2840C>G (p.Thr947Ser)
c.2837C>G (p.Thr946Ser)
n.3430C>G
n.269C>G
n.251C>G
c.399C>G
c.2843C>G (p.Thr948Ser)
c.1739C>G (p.Thr580Ser)
19g.12647316G>TCA404237502MAN2B1c.2840C>A (p.Thr947Asn)
c.2837C>A (p.Thr946Asn)
n.3430C>A
n.269C>A
n.251C>A
c.399C>A
c.2843C>A (p.Thr948Asn)
c.1739C>A (p.Thr580Asn)
19g.12647317T>ACA404237504MAN2B1c.2839A>T (p.Thr947Ser)
c.2836A>T (p.Thr946Ser)
n.3429A>T
n.268A>T
n.250A>T
c.398A>T
c.2842A>T (p.Thr948Ser)
c.1738A>T (p.Thr580Ser)
19g.12647317T>CCA404237506MAN2B1c.2839A>G (p.Thr947Ala)
c.2836A>G (p.Thr946Ala)
n.3429A>G
n.268A>G
n.250A>G
c.398A>G
c.2842A>G (p.Thr948Ala)
c.1738A>G (p.Thr580Ala)
 dbSNP gnomAD v2 gnomAD v4
19g.12647317T>GCA404237508MAN2B1c.2839A>C (p.Thr947Pro)
c.2836A>C (p.Thr946Pro)
n.3429A>C
n.268A>C
n.250A>C
c.398A>C
c.2842A>C (p.Thr948Pro)
c.1738A>C (p.Thr580Pro)
19g.12647317T=CA2323498575MAN2B1c.2839A= (p.Thr947=)
c.2836A= (p.Thr946=)
n.3429A=
n.268A=
n.250A=
c.398A=
c.2842A= (p.Thr948=)
c.1738A= (p.Thr580=)
19g.12647318G>ACA505770656MAN2B1c.2838C>T (p.Phe946=)
c.2835C>T (p.Phe945=)
n.3428C>T
n.267C>T
n.249C>T
c.397C>T
c.2841C>T (p.Phe947=)
c.1737C>T (p.Phe579=)
 dbSNP
19g.12647318G>CCA404237510MAN2B1c.2838C>G (p.Phe946Leu)
c.2835C>G (p.Phe945Leu)
n.3428C>G
n.267C>G
n.249C>G
c.397C>G
c.2841C>G (p.Phe947Leu)
c.1737C>G (p.Phe579Leu)
 gnomAD v4
19g.12647318G>TCA404237512MAN2B1c.2838C>A (p.Phe946Leu)
c.2835C>A (p.Phe945Leu)
n.3428C>A
n.267C>A
n.249C>A
c.397C>A
c.2841C>A (p.Phe947Leu)
c.1737C>A (p.Phe579Leu)
19g.12647319A>CCA404237513MAN2B1c.2837T>G (p.Phe946Cys)
c.2834T>G (p.Phe945Cys)
n.3427T>G
n.266T>G
n.248T>G
c.396T>G
c.2840T>G (p.Phe947Cys)
c.1736T>G (p.Phe579Cys)
19g.12647319A>GCA404237514MAN2B1c.2837T>C (p.Phe946Ser)
c.2834T>C (p.Phe945Ser)
n.3427T>C
n.266T>C
n.248T>C
c.396T>C
c.2840T>C (p.Phe947Ser)
c.1736T>C (p.Phe579Ser)
19g.12647319A>TCA404237516MAN2B1c.2837T>A (p.Phe946Tyr)
c.2834T>A (p.Phe945Tyr)
n.3427T>A
n.266T>A
n.248T>A
c.396T>A
c.2840T>A (p.Phe947Tyr)
c.1736T>A (p.Phe579Tyr)
19g.12647320A>CCA404237520MAN2B1c.2836T>G (p.Phe946Val)
c.2833T>G (p.Phe945Val)
n.3426T>G
n.265T>G
n.247T>G
c.395T>G
c.2839T>G (p.Phe947Val)
c.1735T>G (p.Phe579Val)
19g.12647320A>GCA404237521MAN2B1c.2836T>C (p.Phe946Leu)
c.2833T>C (p.Phe945Leu)
n.3426T>C
n.265T>C
n.247T>C
c.395T>C
c.2839T>C (p.Phe947Leu)
c.1735T>C (p.Phe579Leu)
19g.12647320A>TCA404237518MAN2B1c.2836T>A (p.Phe946Ile)
c.2833T>A (p.Phe945Ile)
n.3426T>A
n.265T>A
n.247T>A
c.395T>A
c.2839T>A (p.Phe947Ile)
c.1735T>A (p.Phe579Ile)
19g.12647321G>ACA505770660MAN2B1c.2835C>T (p.Thr945=)
c.2832C>T (p.Thr944=)
n.3425C>T
n.264C>T
n.246C>T
c.394C>T
c.2838C>T (p.Thr946=)
c.1734C>T (p.Thr578=)
 ClinVar
19g.12647321G>CCA505770661MAN2B1c.2835C>G (p.Thr945=)
c.2832C>G (p.Thr944=)
n.3425C>G
n.264C>G
n.246C>G
c.394C>G
c.2838C>G (p.Thr946=)
c.1734C>G (p.Thr578=)
 gnomAD v4
19g.12647321G>TCA505770663MAN2B1c.2835C>A (p.Thr945=)
c.2832C>A (p.Thr944=)
n.3425C>A
n.264C>A
n.246C>A
c.394C>A
c.2838C>A (p.Thr946=)
c.1734C>A (p.Thr578=)
19g.12647322G>ACA404237527MAN2B1c.2834C>T (p.Thr945Ile)
c.2831C>T (p.Thr944Ile)
n.3424C>T
n.263C>T
n.245C>T
c.393C>T
c.2837C>T (p.Thr946Ile)
c.1733C>T (p.Thr578Ile)
19g.12647322G>CCA404237524MAN2B1c.2834C>G (p.Thr945Ser)
c.2831C>G (p.Thr944Ser)
n.3424C>G
n.263C>G
n.245C>G
c.393C>G
c.2837C>G (p.Thr946Ser)
c.1733C>G (p.Thr578Ser)
19g.12647322G>TCA404237525MAN2B1c.2834C>A (p.Thr945Asn)
c.2831C>A (p.Thr944Asn)
n.3424C>A
n.263C>A
n.245C>A
c.393C>A
c.2837C>A (p.Thr946Asn)
c.1733C>A (p.Thr578Asn)
19g.12647323T>ACA404237530MAN2B1c.2833A>T (p.Thr945Ser)
c.2830A>T (p.Thr944Ser)
n.3423A>T
n.262A>T
n.244A>T
c.392A>T
c.2836A>T (p.Thr946Ser)
c.1732A>T (p.Thr578Ser)
19g.12647323T>CCA404237531MAN2B1c.2833A>G (p.Thr945Ala)
c.2830A>G (p.Thr944Ala)
n.3423A>G
n.262A>G
n.244A>G
c.392A>G
c.2836A>G (p.Thr946Ala)
c.1732A>G (p.Thr578Ala)
19g.12647323T>GCA404237532MAN2B1c.2833A>C (p.Thr945Pro)
c.2830A>C (p.Thr944Pro)
n.3423A>C
n.262A>C
n.244A>C
c.392A>C
c.2836A>C (p.Thr946Pro)
c.1732A>C (p.Thr578Pro)
19g.12647324G>ACA505770667MAN2B1c.2832C>T (p.Ser944=)
c.2829C>T (p.Ser943=)
n.3422C>T
n.261C>T
n.243C>T
c.391C>T
c.2835C>T (p.Ser945=)
c.1731C>T (p.Ser577=)
19g.12647324G>CCA505770668MAN2B1c.2832C>G (p.Ser944=)
c.2829C>G (p.Ser943=)
n.3422C>G
n.261C>G
n.243C>G
c.391C>G
c.2835C>G (p.Ser945=)
c.1731C>G (p.Ser577=)
19g.12647324G>TCA505770670MAN2B1c.2832C>A (p.Ser944=)
c.2829C>A (p.Ser943=)
n.3422C>A
n.261C>A
n.243C>A
c.391C>A
c.2835C>A (p.Ser945=)
c.1731C>A (p.Ser577=)
 gnomAD v4
19g.12647325G>ACA9225897MAN2B1c.2831C>T (p.Ser944Phe)
c.2828C>T (p.Ser943Phe)
n.3421C>T
n.260C>T
n.242C>T
c.390C>T
c.2834C>T (p.Ser945Phe)
c.1730C>T (p.Ser577Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.12647325G>CCA404237535MAN2B1c.2831C>G (p.Ser944Cys)
c.2828C>G (p.Ser943Cys)
n.3421C>G
n.260C>G
n.242C>G
c.390C>G
c.2834C>G (p.Ser945Cys)
c.1730C>G (p.Ser577Cys)
 COSMIC
19g.12647325G=CA2323498576MAN2B1c.2831C= (p.Ser944=)
c.2828C= (p.Ser943=)
n.3421C=
n.260C=
n.242C=
c.390C=
c.2834C= (p.Ser945=)
c.1730C= (p.Ser577=)
19g.12647325G>TCA404237536MAN2B1c.2831C>A (p.Ser944Tyr)
c.2828C>A (p.Ser943Tyr)
n.3421C>A
n.260C>A
n.242C>A
c.390C>A
c.2834C>A (p.Ser945Tyr)
c.1730C>A (p.Ser577Tyr)
19g.12647325_12647326insCCAACCCA2813644427MAN2B1c.2830_2831insGGTTGG (p.Ser944delinsTrpLeuAla)
c.2827_2828insGGTTGG (p.Ser943delinsTrpLeuAla)
n.3420_3421insGGTTGG
n.259_260insGGTTGG
n.241_242insGGTTGG
c.389_390insGGTTGG
c.2833_2834insGGTTGG (p.Ser945delinsTrpLeuAla)
c.1729_1730insGGTTGG (p.Ser577delinsTrpLeuAla)
19g.12647326A>CCA404237537MAN2B1c.2830T>G (p.Ser944Ala)
c.2827T>G (p.Ser943Ala)
n.3420T>G
n.259T>G
n.241T>G
c.389T>G
c.2833T>G (p.Ser945Ala)
c.1729T>G (p.Ser577Ala)
19g.12647326A>GCA404237538MAN2B1c.2830T>C (p.Ser944Pro)
c.2827T>C (p.Ser943Pro)
n.3420T>C
n.259T>C
n.241T>C
c.389T>C
c.2833T>C (p.Ser945Pro)
c.1729T>C (p.Ser577Pro)
 gnomAD v4
19g.12647326A>TCA404237540MAN2B1c.2830T>A (p.Ser944Thr)
c.2827T>A (p.Ser943Thr)
n.3420T>A
n.259T>A
n.241T>A
c.389T>A
c.2833T>A (p.Ser945Thr)
c.1729T>A (p.Ser577Thr)
19g.12647327G>ACA505770675MAN2B1c.2829C>T (p.Phe943=)
c.2826C>T (p.Phe942=)
n.3419C>T
n.258C>T
n.240C>T
c.388C>T
c.2832C>T (p.Phe944=)
c.1728C>T (p.Phe576=)
 COSMIC
19g.12647327G>CCA404237541MAN2B1c.2829C>G (p.Phe943Leu)
c.2826C>G (p.Phe942Leu)
n.3419C>G
n.258C>G
n.240C>G
c.388C>G
c.2832C>G (p.Phe944Leu)
c.1728C>G (p.Phe576Leu)
19g.12647327G>TCA404237543MAN2B1c.2829C>A (p.Phe943Leu)
c.2826C>A (p.Phe942Leu)
n.3419C>A
n.258C>A
n.240C>A
c.388C>A
c.2832C>A (p.Phe944Leu)
c.1728C>A (p.Phe576Leu)
 gnomAD v4
19g.12647328A>CCA404237546MAN2B1c.2828T>G (p.Phe943Cys)
c.2825T>G (p.Phe942Cys)
n.3418T>G
n.257T>G
n.239T>G
c.387T>G
c.2831T>G (p.Phe944Cys)
c.1727T>G (p.Phe576Cys)
19g.12647328A>GCA404237550MAN2B1c.2828T>C (p.Phe943Ser)
c.2825T>C (p.Phe942Ser)
n.3418T>C
n.257T>C
n.239T>C
c.387T>C
c.2831T>C (p.Phe944Ser)
c.1727T>C (p.Phe576Ser)
 gnomAD v4
19g.12647328A>TCA404237548MAN2B1c.2828T>A (p.Phe943Tyr)
c.2825T>A (p.Phe942Tyr)
n.3418T>A
n.257T>A
n.239T>A
c.387T>A
c.2831T>A (p.Phe944Tyr)
c.1727T>A (p.Phe576Tyr)
19g.12647329A>CCA404237552MAN2B1c.2827T>G (p.Phe943Val)
c.2824T>G (p.Phe942Val)
n.3417T>G
n.256T>G
n.238T>G
c.386T>G
c.2830T>G (p.Phe944Val)
c.1726T>G (p.Phe576Val)
19g.12647329A>GCA404237554MAN2B1c.2827T>C (p.Phe943Leu)
c.2824T>C (p.Phe942Leu)
n.3417T>C
n.256T>C
n.238T>C
c.386T>C
c.2830T>C (p.Phe944Leu)
c.1726T>C (p.Phe576Leu)
19g.12647329A>TCA404237556MAN2B1c.2827T>A (p.Phe943Ile)
c.2824T>A (p.Phe942Ile)
n.3417T>A
n.256T>A
n.238T>A
c.386T>A
c.2830T>A (p.Phe944Ile)
c.1726T>A (p.Phe576Ile)
19g.12647329_12647330insAACCAAACACACCCAACACA2813644428MAN2B1c.2827_2828insGTTGGGTGTGTTTGGTTT (p.Leu942_Phe943insCysTrpValCysLeuVal)
c.2824_2825insGTTGGGTGTGTTTGGTTT (p.Leu941_Phe942insCysTrpValCysLeuVal)
n.3417_3418insGTTGGGTGTGTTTGGTTT
n.256_257insGTTGGGTGTGTTTGGTTT
n.238_239insGTTGGGTGTGTTTGGTTT
c.386_387insGTTGGGTGTGTTTGGTTT
c.2830_2831insGTTGGGTGTGTTTGGTTT (p.Leu943_Phe944insCysTrpValCysLeuVal)
c.1726_1727insGTTGGGTGTGTTTGGTTT (p.Leu575_Phe576insCysTrpValCysLeuVal)
19g.12647330C>ACA505770680MAN2B1c.2826G>T (p.Leu942=)
c.2823G>T (p.Leu941=)
n.3416G>T
n.255G>T
n.237G>T
c.385G>T
c.2829G>T (p.Leu943=)
c.1725G>T (p.Leu575=)
19g.12647330C>GCA505770682MAN2B1c.2826G>C (p.Leu942=)
c.2823G>C (p.Leu941=)
n.3416G>C
n.255G>C
n.237G>C
c.385G>C
c.2829G>C (p.Leu943=)
c.1725G>C (p.Leu575=)
19g.12647330C>TCA505770681MAN2B1c.2826G>A (p.Leu942=)
c.2823G>A (p.Leu941=)
n.3416G>A
n.255G>A
n.237G>A
c.385G>A
c.2829G>A (p.Leu943=)
c.1725G>A (p.Leu575=)
 ClinVar dbSNP gnomAD v4
19g.12647331A>CCA404237558MAN2B1c.2825T>G (p.Leu942Arg)
c.2822T>G (p.Leu941Arg)
n.3415T>G
n.254T>G
n.236T>G
c.384T>G
c.2828T>G (p.Leu943Arg)
c.1724T>G (p.Leu575Arg)
19g.12647331A>GCA404237560MAN2B1c.2825T>C (p.Leu942Pro)
c.2822T>C (p.Leu941Pro)
n.3415T>C
n.254T>C
n.236T>C
c.384T>C
c.2828T>C (p.Leu943Pro)
c.1724T>C (p.Leu575Pro)
19g.12647331A>TCA404237562MAN2B1c.2825T>A (p.Leu942Gln)
c.2822T>A (p.Leu941Gln)
n.3415T>A
n.254T>A
n.236T>A
c.384T>A
c.2828T>A (p.Leu943Gln)
c.1724T>A (p.Leu575Gln)
19g.12647332G>ACA505770684MAN2B1c.2824C>T (p.Leu942=)
c.2821C>T (p.Leu941=)
n.3414C>T
n.253C>T
n.235C>T
c.383C>T
c.2827C>T (p.Leu943=)
c.1723C>T (p.Leu575=)
19g.12647332G>CCA404237564MAN2B1c.2824C>G (p.Leu942Val)
c.2821C>G (p.Leu941Val)
n.3414C>G
n.253C>G
n.235C>G
c.383C>G
c.2827C>G (p.Leu943Val)
c.1723C>G (p.Leu575Val)
19g.12647332G>TCA404237566MAN2B1c.2824C>A (p.Leu942Met)
c.2821C>A (p.Leu941Met)
n.3414C>A
n.253C>A
n.235C>A
c.383C>A
c.2827C>A (p.Leu943Met)
c.1723C>A (p.Leu575Met)
19g.12647333G>ACA9225898MAN2B1c.2823C>T (p.Asp941=)
c.2820C>T (p.Asp940=)
n.3413C>T
n.252C>T
n.234C>T
c.382C>T
c.2826C>T (p.Asp942=)
c.1722C>T (p.Asp574=)
 dbSNP ExAC gnomAD v4
19g.12647333G>CCA404237569MAN2B1c.2823C>G (p.Asp941Glu)
c.2820C>G (p.Asp940Glu)
n.3413C>G
n.252C>G
n.234C>G
c.382C>G
c.2826C>G (p.Asp942Glu)
c.1722C>G (p.Asp574Glu)
19g.12647333G=CA2323498577MAN2B1c.2823C= (p.Asp941=)
c.2820C= (p.Asp940=)
n.3413C=
n.252C=
n.234C=
c.382C=
c.2826C= (p.Asp942=)
c.1722C= (p.Asp574=)
19g.12647333G>TCA404237571MAN2B1c.2823C>A (p.Asp941Glu)
c.2820C>A (p.Asp940Glu)
n.3413C>A
n.252C>A
n.234C>A
c.382C>A
c.2826C>A (p.Asp942Glu)
c.1722C>A (p.Asp574Glu)
19g.12647334T>ACA404237576MAN2B1c.2822A>T (p.Asp941Val)
c.2819A>T (p.Asp940Val)
n.3412A>T
n.251A>T
n.233A>T
c.381A>T
c.2825A>T (p.Asp942Val)
c.1721A>T (p.Asp574Val)
19g.12647334T>CCA404237577MAN2B1c.2822A>G (p.Asp941Gly)
c.2819A>G (p.Asp940Gly)
n.3412A>G
n.251A>G
n.233A>G
c.381A>G
c.2825A>G (p.Asp942Gly)
c.1721A>G (p.Asp574Gly)
19g.12647334T>GCA404237574MAN2B1c.2822A>C (p.Asp941Ala)
c.2819A>C (p.Asp940Ala)
n.3412A>C
n.251A>C
n.233A>C
c.381A>C
c.2825A>C (p.Asp942Ala)
c.1721A>C (p.Asp574Ala)
19g.12647335C>ACA404237580MAN2B1c.2821G>T (p.Asp941Tyr)
c.2818G>T (p.Asp940Tyr)
n.3411G>T
n.250G>T
n.232G>T
c.380G>T
c.2824G>T (p.Asp942Tyr)
c.1720G>T (p.Asp574Tyr)
19g.12647335C>GCA404237581MAN2B1c.2821G>C (p.Asp941His)
c.2818G>C (p.Asp940His)
n.3411G>C
n.250G>C
n.232G>C
c.380G>C
c.2824G>C (p.Asp942His)
c.1720G>C (p.Asp574His)
19g.12647335C>TCA404237583MAN2B1c.2821G>A (p.Asp941Asn)
c.2818G>A (p.Asp940Asn)
n.3411G>A
n.250G>A
n.232G>A
c.380G>A
c.2824G>A (p.Asp942Asn)
c.1720G>A (p.Asp574Asn)
19g.12647336C>ACA404237585MAN2B1c.2821-1G>T (n.2821-1G>T)
c.2818-1G>T (n.2818-1G>T)
n.3411-1G>T
n.249G>T
n.232-1G>T
c.380-1G>T
c.2824-1G>T (n.2824-1G>T)
c.1720-1G>T (n.1720-1G>T)
19g.12647336C=CA2323498578MAN2B1c.2821-1G= (n.2821-1G=)
c.2818-1G= (n.2818-1G=)
n.3411-1G=
n.249G=
n.232-1G=
c.380-1G=
c.2824-1G= (n.2824-1G=)
c.1720-1G= (n.1720-1G=)
19g.12647336C>GCA404237586MAN2B1c.2821-1G>C (n.2821-1G>C)
c.2818-1G>C (n.2818-1G>C)
n.3411-1G>C
n.249G>C
n.232-1G>C
c.380-1G>C
c.2824-1G>C (n.2824-1G>C)
c.1720-1G>C (n.1720-1G>C)
19g.12647336C>TCA404237589MAN2B1c.2821-1G>A (n.2821-1G>A)
c.2818-1G>A (n.2818-1G>A)
n.3411-1G>A
n.249G>A
n.232-1G>A
c.380-1G>A
c.2824-1G>A (n.2824-1G>A)
c.1720-1G>A (n.1720-1G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.12647337T>ACA404237591MAN2B1c.2821-2A>T (n.2821-2A>T)
c.2818-2A>T (n.2818-2A>T)
n.3411-2A>T
n.248A>T
n.232-2A>T
c.380-2A>T
c.2824-2A>T (n.2824-2A>T)
c.1720-2A>T (n.1720-2A>T)
19g.12647337T>CCA404237593MAN2B1c.2821-2A>G (n.2821-2A>G)
c.2818-2A>G (n.2818-2A>G)
n.3411-2A>G
n.248A>G
n.232-2A>G
c.380-2A>G
c.2824-2A>G (n.2824-2A>G)
c.1720-2A>G (n.1720-2A>G)
 ClinVar
19g.12647337T>GCA404237595MAN2B1c.2821-2A>C (n.2821-2A>C)
c.2818-2A>C (n.2818-2A>C)
n.3411-2A>C
n.248A>C
n.232-2A>C
c.380-2A>C
c.2824-2A>C (n.2824-2A>C)
c.1720-2A>C (n.1720-2A>C)
19g.12647338G>ACA2813644429MAN2B1c.2821-3C>T (n.2821-3C>T)
c.2818-3C>T (n.2818-3C>T)
n.3411-3C>T
n.247C>T
n.232-3C>T
c.380-3C>T
c.2824-3C>T (n.2824-3C>T)
c.1720-3C>T (n.1720-3C>T)
19g.12647338G=CA2323498579MAN2B1c.2821-3C= (n.2821-3C=)
c.2818-3C= (n.2818-3C=)
n.3411-3C=
n.247C=
n.232-3C=
c.380-3C=
c.2824-3C= (n.2824-3C=)
c.1720-3C= (n.1720-3C=)
19g.12647338G>TCA9225899MAN2B1c.2821-3C>A (n.2821-3C>A)
c.2818-3C>A (n.2818-3C>A)
n.3411-3C>A
n.247C>A
n.232-3C>A
c.380-3C>A
c.2824-3C>A (n.2824-3C>A)
c.1720-3C>A (n.1720-3C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12647339C>ACA632119524MAN2B1c.2821-4G>T (n.2821-4G>T)
c.2818-4G>T (n.2818-4G>T)
n.3411-4G>T
n.246G>T
n.232-4G>T
c.380-4G>T
c.2824-4G>T (n.2824-4G>T)
c.1720-4G>T (n.1720-4G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.12647339C=CA2323498580MAN2B1c.2821-4G= (n.2821-4G=)
c.2818-4G= (n.2818-4G=)
n.3411-4G=
n.246G=
n.232-4G=
c.380-4G=
c.2824-4G= (n.2824-4G=)
c.1720-4G= (n.1720-4G=)
19g.12647339C>TCA9225900MAN2B1c.2821-4G>A (n.2821-4G>A)
c.2818-4G>A (n.2818-4G>A)
n.3411-4G>A
n.246G>A
n.232-4G>A
c.380-4G>A
c.2824-4G>A (n.2824-4G>A)
c.1720-4G>A (n.1720-4G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12647340G>ACA9225901MAN2B1c.2821-5C>T (n.2821-5C>T)
c.2818-5C>T (n.2818-5C>T)
n.3411-5C>T
n.245C>T
n.232-5C>T
c.380-5C>T
c.2824-5C>T (n.2824-5C>T)
c.1720-5C>T (n.1720-5C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12647340G=CA2323498581MAN2B1c.2821-5C= (n.2821-5C=)
c.2818-5C= (n.2818-5C=)
n.3411-5C=
n.245C=
n.232-5C=
c.380-5C=
c.2824-5C= (n.2824-5C=)
c.1720-5C= (n.1720-5C=)
19g.12647340G>TCA2582717343MAN2B1c.2821-5C>A (n.2821-5C>A)
c.2818-5C>A (n.2818-5C>A)
n.3411-5C>A
n.245C>A
n.232-5C>A
c.380-5C>A
c.2824-5C>A (n.2824-5C>A)
c.1720-5C>A (n.1720-5C>A)
 gnomAD v4
19g.12647343delCA2576634699MAN2B1c.2821-5del (n.2821-5del)
c.2818-5del (n.2818-5del)
n.3411-5del
n.245del
n.232-5del
c.380-5del
c.2824-5del (n.2824-5del)
c.1720-5del (n.1720-5del)
19g.12647341G>TCA2576634700MAN2B1c.2821-6C>A (n.2821-6C>A)
c.2818-6C>A (n.2818-6C>A)
n.3411-6C>A
n.244C>A
n.232-6C>A
c.380-6C>A
c.2824-6C>A (n.2824-6C>A)
c.1720-6C>A (n.1720-6C>A)
19g.12647342G>ACA2582717344MAN2B1c.2821-7C>T (n.2821-7C>T)
c.2818-7C>T (n.2818-7C>T)
n.3411-7C>T
n.243C>T
n.232-7C>T
c.380-7C>T
c.2824-7C>T (n.2824-7C>T)
c.1720-7C>T (n.1720-7C>T)
 gnomAD v4
19g.12647342G=CA2323498582MAN2B1c.2821-7C= (n.2821-7C=)
c.2818-7C= (n.2818-7C=)
n.3411-7C=
n.243C=
n.232-7C=
c.380-7C=
c.2824-7C= (n.2824-7C=)
c.1720-7C= (n.1720-7C=)
19g.12647342G>TCA2323498583MAN2B1c.2821-7C>A (n.2821-7C>A)
c.2818-7C>A (n.2818-7C>A)
n.3411-7C>A
n.243C>A
n.232-7C>A
c.380-7C>A
c.2824-7C>A (n.2824-7C>A)
c.1720-7C>A (n.1720-7C>A)
 ClinVar dbSNP gnomAD v4
19g.12647343G>TCA2576634701MAN2B1c.2821-8C>A (n.2821-8C>A)
c.2818-8C>A (n.2818-8C>A)
n.3411-8C>A
n.242C>A
n.232-8C>A
c.380-8C>A
c.2824-8C>A (n.2824-8C>A)
c.1720-8C>A (n.1720-8C>A)
 ClinVar gnomAD v4
19g.12647344A=CA2323498584MAN2B1c.2821-9T= (n.2821-9T=)
c.2818-9T= (n.2818-9T=)
n.3411-9T=
n.241T=
n.232-9T=
c.380-9T=
c.2824-9T= (n.2824-9T=)
c.1720-9T= (n.1720-9T=)
19g.12647344A>GCA2323498585MAN2B1c.2821-9T>C (n.2821-9T>C)
c.2818-9T>C (n.2818-9T>C)
n.3411-9T>C
n.241T>C
n.232-9T>C
c.380-9T>C
c.2824-9T>C (n.2824-9T>C)
c.1720-9T>C (n.1720-9T>C)
 ClinVar dbSNP gnomAD v4
19g.12647344A>TCA632119525MAN2B1c.2821-9T>A (n.2821-9T>A)
c.2818-9T>A (n.2818-9T>A)
n.3411-9T>A
n.241T>A
n.232-9T>A
c.380-9T>A
c.2824-9T>A (n.2824-9T>A)
c.1720-9T>A (n.1720-9T>A)
 dbSNP gnomAD v2 gnomAD v4
19g.12647345A>CCA2566686885MAN2B1c.2821-10T>G (n.2821-10T>G)
c.2818-10T>G (n.2818-10T>G)
n.3411-10T>G
n.240T>G
n.232-10T>G
c.380-10T>G
c.2824-10T>G (n.2824-10T>G)
c.1720-10T>G (n.1720-10T>G)
19g.12647346G>ACA632119526MAN2B1c.2821-11C>T (n.2821-11C>T)
c.2818-11C>T (n.2818-11C>T)
n.3411-11C>T
n.239C>T
n.232-11C>T
c.380-11C>T
c.2824-11C>T (n.2824-11C>T)
c.1720-11C>T (n.1720-11C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.12647346G=CA2323498586MAN2B1c.2821-11C= (n.2821-11C=)
c.2818-11C= (n.2818-11C=)
n.3411-11C=
n.239C=
n.232-11C=
c.380-11C=
c.2824-11C= (n.2824-11C=)
c.1720-11C= (n.1720-11C=)
19g.12647347G>ACA632119527MAN2B1c.2821-12C>T (n.2821-12C>T)
c.2818-12C>T (n.2818-12C>T)
n.3411-12C>T
n.238C>T
n.232-12C>T
c.380-12C>T
c.2824-12C>T (n.2824-12C>T)
c.1720-12C>T (n.1720-12C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.12647347G=CA2323498587MAN2B1c.2821-12C= (n.2821-12C=)
c.2818-12C= (n.2818-12C=)
n.3411-12C=
n.238C=
n.232-12C=
c.380-12C=
c.2824-12C= (n.2824-12C=)
c.1720-12C= (n.1720-12C=)
19g.12647347G>TCA2582717345MAN2B1c.2821-12C>A (n.2821-12C>A)
c.2818-12C>A (n.2818-12C>A)
n.3411-12C>A
n.238C>A
n.232-12C>A
c.380-12C>A
c.2824-12C>A (n.2824-12C>A)
c.1720-12C>A (n.1720-12C>A)
 gnomAD v4
19g.12647348G=CA2323498588MAN2B1c.2821-13C= (n.2821-13C=)
c.2818-13C= (n.2818-13C=)
n.3411-13C=
n.237C=
n.232-13C=
c.380-13C=
c.2824-13C= (n.2824-13C=)
c.1720-13C= (n.1720-13C=)
19g.12647348G>TCA9225902MAN2B1c.2821-13C>A (n.2821-13C>A)
c.2818-13C>A (n.2818-13C>A)
n.3411-13C>A
n.237C>A
n.232-13C>A
c.380-13C>A
c.2824-13C>A (n.2824-13C>A)
c.1720-13C>A (n.1720-13C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.12647350A=CA2323498589MAN2B1c.2821-15T= (n.2821-15T=)
c.2818-15T= (n.2818-15T=)
n.3411-15T=
n.235T=
n.232-15T=
c.380-15T=
c.2824-15T= (n.2824-15T=)
c.1720-15T= (n.1720-15T=)
19g.12647350A>TCA9225903MAN2B1c.2821-15T>A (n.2821-15T>A)
c.2818-15T>A (n.2818-15T>A)
n.3411-15T>A
n.235T>A
n.232-15T>A
c.380-15T>A
c.2824-15T>A (n.2824-15T>A)
c.1720-15T>A (n.1720-15T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12647351T>ACA2576634702MAN2B1c.2821-16A>T (n.2821-16A>T)
c.2818-16A>T (n.2818-16A>T)
n.3411-16A>T
n.234A>T
n.232-16A>T
c.380-16A>T
c.2824-16A>T (n.2824-16A>T)
c.1720-16A>T (n.1720-16A>T)
19g.12647351T>GCA9225904MAN2B1c.2821-16A>C (n.2821-16A>C)
c.2818-16A>C (n.2818-16A>C)
n.3411-16A>C
n.234A>C
n.232-16A>C
c.380-16A>C
c.2824-16A>C (n.2824-16A>C)
c.1720-16A>C (n.1720-16A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12647351T=CA2323498590MAN2B1c.2821-16A= (n.2821-16A=)
c.2818-16A= (n.2818-16A=)
n.3411-16A=
n.234A=
n.232-16A=
c.380-16A=
c.2824-16A= (n.2824-16A=)
c.1720-16A= (n.1720-16A=)
19g.12647352G>ACA305460005MAN2B1c.2821-17C>T (n.2821-17C>T)
c.2818-17C>T (n.2818-17C>T)
n.3411-17C>T
n.233C>T
n.232-17C>T
c.380-17C>T
c.2824-17C>T (n.2824-17C>T)
c.1720-17C>T (n.1720-17C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.12647352G>CCA993664224MAN2B1c.2821-17C>G (n.2821-17C>G)
c.2818-17C>G (n.2818-17C>G)
n.3411-17C>G
n.233C>G
n.232-17C>G
c.380-17C>G
c.2824-17C>G (n.2824-17C>G)
c.1720-17C>G (n.1720-17C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.12647352G=CA2323498591MAN2B1c.2821-17C= (n.2821-17C=)
c.2818-17C= (n.2818-17C=)
n.3411-17C=
n.233C=
n.232-17C=
c.380-17C=
c.2824-17C= (n.2824-17C=)
c.1720-17C= (n.1720-17C=)
19g.12647353G>ACA2582717346MAN2B1c.2821-18C>T (n.2821-18C>T)
c.2818-18C>T (n.2818-18C>T)
n.3411-18C>T
n.232C>T
n.232-18C>T
c.380-18C>T
c.2824-18C>T (n.2824-18C>T)
c.1720-18C>T (n.1720-18C>T)
 gnomAD v4
19g.12647354G>ACA632119528MAN2B1c.2821-19C>T (n.2821-19C>T)
c.2818-19C>T (n.2818-19C>T)
n.3411-19C>T
n.231C>T
n.232-19C>T
c.380-19C>T
c.2824-19C>T (n.2824-19C>T)
c.1720-19C>T (n.1720-19C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.12647354G=CA2323498592MAN2B1c.2821-19C= (n.2821-19C=)
c.2818-19C= (n.2818-19C=)
n.3411-19C=
n.231C=
n.232-19C=
c.380-19C=
c.2824-19C= (n.2824-19C=)
c.1720-19C= (n.1720-19C=)
19g.12647355C=CA2323498593MAN2B1c.2821-20G= (n.2821-20G=)
c.2818-20G= (n.2818-20G=)
n.3411-20G=
n.230G=
n.232-20G=
c.380-20G=
c.2824-20G= (n.2824-20G=)
c.1720-20G= (n.1720-20G=)
19g.12647355C>TCA2323498594MAN2B1c.2821-20G>A (n.2821-20G>A)
c.2818-20G>A (n.2818-20G>A)
n.3411-20G>A
n.230G>A
n.232-20G>A
c.380-20G>A
c.2824-20G>A (n.2824-20G>A)
c.1720-20G>A (n.1720-20G>A)
 ClinVar dbSNP gnomAD v4
19g.12647356C=CA2323498595MAN2B1c.2821-21G= (n.2821-21G=)
c.2818-21G= (n.2818-21G=)
n.3411-21G=
n.229G=
n.232-21G=
c.380-21G=
c.2824-21G= (n.2824-21G=)
c.1720-21G= (n.1720-21G=)
19g.12647356C>TCA632119529MAN2B1c.2821-21G>A (n.2821-21G>A)
c.2818-21G>A (n.2818-21G>A)
n.3411-21G>A
n.229G>A
n.232-21G>A
c.380-21G>A
c.2824-21G>A (n.2824-21G>A)
c.1720-21G>A (n.1720-21G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.12647357C=CA2323498596MAN2B1c.2821-22G= (n.2821-22G=)
c.2818-22G= (n.2818-22G=)
n.3411-22G=
n.228G=
n.232-22G=
c.380-22G=
c.2824-22G= (n.2824-22G=)
c.1720-22G= (n.1720-22G=)
19g.12647357C>GCA2323498597MAN2B1c.2821-22G>C (n.2821-22G>C)
c.2818-22G>C (n.2818-22G>C)
n.3411-22G>C
n.228G>C
n.232-22G>C
c.380-22G>C
c.2824-22G>C (n.2824-22G>C)
c.1720-22G>C (n.1720-22G>C)
 dbSNP
19g.12647357C>TCA2576634703MAN2B1c.2821-22G>A (n.2821-22G>A)
c.2818-22G>A (n.2818-22G>A)
n.3411-22G>A
n.228G>A
n.232-22G>A
c.380-22G>A
c.2824-22G>A (n.2824-22G>A)
c.1720-22G>A (n.1720-22G>A)
19g.12647362G>TCA2582717347MAN2B1c.2821-27C>A (n.2821-27C>A)
c.2818-27C>A (n.2818-27C>A)
n.3411-27C>A
n.223C>A
n.232-27C>A
c.380-27C>A
c.2824-27C>A (n.2824-27C>A)
c.1720-27C>A (n.1720-27C>A)
 gnomAD v4
19g.12647362_12647363insCTGTCTCTTATACACATCTCGCCA2813644430MAN2B1c.2821-28_2821-27insGCGAGATGTGTATAAGAGACAG (n.2821-28_2821-27insGCGAGATGTGTATAAGAGACAG)
c.2818-28_2818-27insGCGAGATGTGTATAAGAGACAG (n.2818-28_2818-27insGCGAGATGTGTATAAGAGACAG)
n.3411-28_3411-27insGCGAGATGTGTATAAGAGACAG
n.222_223insGCGAGATGTGTATAAGAGACAG
n.232-28_232-27insGCGAGATGTGTATAAGAGACAG
c.380-28_380-27insGCGAGATGTGTATAAGAGACAG
c.2824-28_2824-27insGCGAGATGTGTATAAGAGACAG (n.2824-28_2824-27insGCGAGATGTGTATAAGAGACAG)
c.1720-28_1720-27insGCGAGATGTGTATAAGAGACAG (n.1720-28_1720-27insGCGAGATGTGTATAAGAGACAG)
19g.12647363A=CA2323498598MAN2B1c.2821-28T= (n.2821-28T=)
c.2818-28T= (n.2818-28T=)
n.3411-28T=
n.222T=
n.232-28T=
c.380-28T=
c.2824-28T= (n.2824-28T=)
c.1720-28T= (n.1720-28T=)
19g.12647363A>GCA305460010MAN2B1c.2821-28T>C (n.2821-28T>C)
c.2818-28T>C (n.2818-28T>C)
n.3411-28T>C
n.222T>C
n.232-28T>C
c.380-28T>C
c.2824-28T>C (n.2824-28T>C)
c.1720-28T>C (n.1720-28T>C)
 dbSNP gnomAD v4
19g.12647364G>ACA632119530MAN2B1c.2821-29C>T (n.2821-29C>T)
c.2818-29C>T (n.2818-29C>T)
n.3411-29C>T
n.221C>T
n.232-29C>T
c.380-29C>T
c.2824-29C>T (n.2824-29C>T)
c.1720-29C>T (n.1720-29C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.12647364G=CA2323498599MAN2B1c.2821-29C= (n.2821-29C=)
c.2818-29C= (n.2818-29C=)
n.3411-29C=
n.221C=
n.232-29C=
c.380-29C=
c.2824-29C= (n.2824-29C=)
c.1720-29C= (n.1720-29C=)
19g.12647364G>TCA2576634704MAN2B1c.2821-29C>A (n.2821-29C>A)
c.2818-29C>A (n.2818-29C>A)
n.3411-29C>A
n.221C>A
n.232-29C>A
c.380-29C>A
c.2824-29C>A (n.2824-29C>A)
c.1720-29C>A (n.1720-29C>A)
19g.12647365T>CCA2323498601MAN2B1c.2821-30A>G (n.2821-30A>G)
c.2818-30A>G (n.2818-30A>G)
n.3411-30A>G
n.220A>G
n.232-30A>G
c.380-30A>G
c.2824-30A>G (n.2824-30A>G)
c.1720-30A>G (n.1720-30A>G)
 dbSNP gnomAD v4
19g.12647365T=CA2323498600MAN2B1c.2821-30A= (n.2821-30A=)
c.2818-30A= (n.2818-30A=)
n.3411-30A=
n.220A=
n.232-30A=
c.380-30A=
c.2824-30A= (n.2824-30A=)
c.1720-30A= (n.1720-30A=)
19g.12647367G>ACA632119532MAN2B1c.2821-32C>T (n.2821-32C>T)
c.2818-32C>T (n.2818-32C>T)
n.3411-32C>T
n.218C>T
n.232-32C>T
c.380-32C>T
c.2824-32C>T (n.2824-32C>T)
c.1720-32C>T (n.1720-32C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.12647367G>CCA632119531MAN2B1c.2821-32C>G (n.2821-32C>G)
c.2818-32C>G (n.2818-32C>G)
n.3411-32C>G
n.218C>G
n.232-32C>G
c.380-32C>G
c.2824-32C>G (n.2824-32C>G)
c.1720-32C>G (n.1720-32C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.12647367G=CA2323498602MAN2B1c.2821-32C= (n.2821-32C=)
c.2818-32C= (n.2818-32C=)
n.3411-32C=
n.218C=
n.232-32C=
c.380-32C=
c.2824-32C= (n.2824-32C=)
c.1720-32C= (n.1720-32C=)
19g.12647368G>ACA783384252MAN2B1c.2821-33C>T (n.2821-33C>T)
c.2818-33C>T (n.2818-33C>T)
n.3411-33C>T
n.217C>T
n.232-33C>T
c.380-33C>T
c.2824-33C>T (n.2824-33C>T)
c.1720-33C>T (n.1720-33C>T)
 dbSNP gnomAD v4
19g.12647368G>CCA9225905MAN2B1c.2821-33C>G (n.2821-33C>G)
c.2818-33C>G (n.2818-33C>G)
n.3411-33C>G
n.217C>G
n.232-33C>G
c.380-33C>G
c.2824-33C>G (n.2824-33C>G)
c.1720-33C>G (n.1720-33C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12647368G=CA2323498603MAN2B1c.2821-33C= (n.2821-33C=)
c.2818-33C= (n.2818-33C=)
n.3411-33C=
n.217C=
n.232-33C=
c.380-33C=
c.2824-33C= (n.2824-33C=)
c.1720-33C= (n.1720-33C=)
19g.12647368G>TCA2576634705MAN2B1c.2821-33C>A (n.2821-33C>A)
c.2818-33C>A (n.2818-33C>A)
n.3411-33C>A
n.217C>A
n.232-33C>A
c.380-33C>A
c.2824-33C>A (n.2824-33C>A)
c.1720-33C>A (n.1720-33C>A)
 gnomAD v4
19g.12647369G>ACA632119533MAN2B1c.2821-34C>T (n.2821-34C>T)
c.2818-34C>T (n.2818-34C>T)
n.3411-34C>T
n.216C>T
n.232-34C>T
c.380-34C>T
c.2824-34C>T (n.2824-34C>T)
c.1720-34C>T (n.1720-34C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.12647369G>CCA9225906MAN2B1c.2821-34C>G (n.2821-34C>G)
c.2818-34C>G (n.2818-34C>G)
n.3411-34C>G
n.216C>G
n.232-34C>G
c.380-34C>G
c.2824-34C>G (n.2824-34C>G)
c.1720-34C>G (n.1720-34C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12647369G=CA2323498604MAN2B1c.2821-34C= (n.2821-34C=)
c.2818-34C= (n.2818-34C=)
n.3411-34C=
n.216C=
n.232-34C=
c.380-34C=
c.2824-34C= (n.2824-34C=)
c.1720-34C= (n.1720-34C=)

Number of alleles fetched