Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.12650089G>CCA2582718687MAN2B1c.2165+15C>G (n.2165+15C>G)
c.2162+15C>G (n.2162+15C>G)
n.2755+15C>G
c.2168+15C>G (n.2168+15C>G)
c.1064+15C>G (n.1064+15C>G)
 gnomAD v4
19g.12650089G>TCA657061841MAN2B1c.2165+15C>A (n.2165+15C>A)
c.2162+15C>A (n.2162+15C>A)
n.2755+15C>A
c.2168+15C>A (n.2168+15C>A)
c.1064+15C>A (n.1064+15C>A)
 COSMIC
19g.12650091C>TCA2581952509MAN2B1c.2165+13G>A (n.2165+13G>A)
c.2162+13G>A (n.2162+13G>A)
n.2755+13G>A
c.2168+13G>A (n.2168+13G>A)
c.1064+13G>A (n.1064+13G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.12650093G>TCA2582718688MAN2B1c.2165+11C>A (n.2165+11C>A)
c.2162+11C>A (n.2162+11C>A)
n.2755+11C>A
c.2168+11C>A (n.2168+11C>A)
c.1064+11C>A (n.1064+11C>A)
 gnomAD v4
19g.12650096C=CA2323500074MAN2B1c.2165+8G= (n.2165+8G=)
c.2162+8G= (n.2162+8G=)
n.2755+8G=
c.2168+8G= (n.2168+8G=)
c.1064+8G= (n.1064+8G=)
19g.12650096C>TCA632119586MAN2B1c.2165+8G>A (n.2165+8G>A)
c.2162+8G>A (n.2162+8G>A)
n.2755+8G>A
c.2168+8G>A (n.2168+8G>A)
c.1064+8G>A (n.1064+8G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.12650101C>ACA9226186MAN2B1c.2165+3G>T (n.2165+3G>T)
c.2162+3G>T (n.2162+3G>T)
n.2755+3G>T
c.2168+3G>T (n.2168+3G>T)
c.1064+3G>T (n.1064+3G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12650101C=CA2323500075MAN2B1c.2165+3G= (n.2165+3G=)
c.2162+3G= (n.2162+3G=)
n.2755+3G=
c.2168+3G= (n.2168+3G=)
c.1064+3G= (n.1064+3G=)
19g.12650101C>TCA2323500076MAN2B1c.2165+3G>A (n.2165+3G>A)
c.2162+3G>A (n.2162+3G>A)
n.2755+3G>A
c.2168+3G>A (n.2168+3G>A)
c.1064+3G>A (n.1064+3G>A)
 dbSNP gnomAD v4
19g.12650102_12650103delCA913015545MAN2B1c.2165+2_2165+3del (n.2165+2_2165+3del)
c.2162+2_2162+3del (n.2162+2_2162+3del)
n.2755+2_2755+3del
c.2168+2_2168+3del (n.2168+2_2168+3del)
c.1064+2_1064+3del (n.1064+2_1064+3del)
19g.12650102A>CCA404243057MAN2B1c.2165+2T>G (n.2165+2T>G)
c.2162+2T>G (n.2162+2T>G)
n.2755+2T>G
c.2168+2T>G (n.2168+2T>G)
c.1064+2T>G (n.1064+2T>G)
19g.12650102A>GCA404243053MAN2B1c.2165+2T>C (n.2165+2T>C)
c.2162+2T>C (n.2162+2T>C)
n.2755+2T>C
c.2168+2T>C (n.2168+2T>C)
c.1064+2T>C (n.1064+2T>C)
19g.12650102A>TCA404243055MAN2B1c.2165+2T>A (n.2165+2T>A)
c.2162+2T>A (n.2162+2T>A)
n.2755+2T>A
c.2168+2T>A (n.2168+2T>A)
c.1064+2T>A (n.1064+2T>A)
19g.12650102_12650103delinsACCA2323500077MAN2B1c.2165+1_2165+2delinsGT (n.2165+1_2165+2delinsGT)
c.2162+1_2162+2delinsGT (n.2162+1_2162+2delinsGT)
n.2755+1_2755+2delinsGT
c.2168+1_2168+2delinsGT (n.2168+1_2168+2delinsGT)
c.1064+1_1064+2delinsGT (n.1064+1_1064+2delinsGT)
19g.12650102_12650117delinsACCCCACAGGTATCGGCA2323500078MAN2B1c.2152_2165+2delinsCCGATACCTGTGGGGT
c.2149_2162+2delinsCCGATACCTGTGGGGT
n.2742_2755+2delinsCCGATACCTGTGGGGT
c.2155_2168+2delinsCCGATACCTGTGGGGT
c.1051_1064+2delinsCCGATACCTGTGGGGT
19g.12650103C>ACA404243060MAN2B1c.2165+1G>T (n.2165+1G>T)
c.2162+1G>T (n.2162+1G>T)
n.2755+1G>T
c.2168+1G>T (n.2168+1G>T)
c.1064+1G>T (n.1064+1G>T)
 gnomAD v4
19g.12650103C=CA2323500079MAN2B1c.2165+1G= (n.2165+1G=)
c.2162+1G= (n.2162+1G=)
n.2755+1G=
c.2168+1G= (n.2168+1G=)
c.1064+1G= (n.1064+1G=)
19g.12650103C>GCA404243063MAN2B1c.2165+1G>C (n.2165+1G>C)
c.2162+1G>C (n.2162+1G>C)
n.2755+1G>C
c.2168+1G>C (n.2168+1G>C)
c.1064+1G>C (n.1064+1G>C)
19g.12650103C>TCA341736MAN2B1c.2165+1G>A (n.2165+1G>A)
c.2162+1G>A (n.2162+1G>A)
n.2755+1G>A
c.2168+1G>A (n.2168+1G>A)
c.1064+1G>A (n.1064+1G>A)
 ClinVar dbSNP gnomAD v4
19g.12650106delCA658824630MAN2B1c.2165+1del
c.2162+1del
n.2755+1del
c.2168+1del
c.1064+1del
 ClinVar dbSNP
19g.12650109_12650123dupCA2580096692MAN2B1c.2152_2165+1dup
c.2149_2162+1dup
n.2742_2755+1dup
c.2155_2168+1dup
c.1051_1064+1dup
 ClinVar
19g.12650109_12650123delCA2323500080MAN2B1c.2152_2165+1del
c.2149_2162+1del
n.2742_2755+1del
c.2155_2168+1del
c.1051_1064+1del
 dbSNP
19g.12650104C>ACA404243067MAN2B1c.2165G>T (p.Gly722Val)
c.2162G>T (p.Gly721Val)
n.2755G>T
c.2168G>T (p.Gly723Val)
c.1064G>T (p.Gly355Val)
 dbSNP gnomAD v2 gnomAD v4
19g.12650104C=CA2323500081MAN2B1c.2165G= (p.Gly722=)
c.2162G= (p.Gly721=)
n.2755G=
c.2168G= (p.Gly723=)
c.1064G= (p.Gly355=)
19g.12650104C>GCA404243070MAN2B1c.2165G>C (p.Gly722Ala)
c.2162G>C (p.Gly721Ala)
n.2755G>C
c.2168G>C (p.Gly723Ala)
c.1064G>C (p.Gly355Ala)
19g.12650104C>TCA9226187MAN2B1c.2165G>A (p.Gly722Asp)
c.2162G>A (p.Gly721Asp)
n.2755G>A
c.2168G>A (p.Gly723Asp)
c.1064G>A (p.Gly355Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.12650105C>ACA404243073MAN2B1c.2164G>T (p.Gly722Cys)
c.2161G>T (p.Gly721Cys)
n.2754G>T
c.2167G>T (p.Gly723Cys)
c.1063G>T (p.Gly355Cys)
19g.12650105C>GCA404243075MAN2B1c.2164G>C (p.Gly722Arg)
c.2161G>C (p.Gly721Arg)
n.2754G>C
c.2167G>C (p.Gly723Arg)
c.1063G>C (p.Gly355Arg)
19g.12650105C>TCA404243078MAN2B1c.2164G>A (p.Gly722Ser)
c.2161G>A (p.Gly721Ser)
n.2754G>A
c.2167G>A (p.Gly723Ser)
c.1063G>A (p.Gly355Ser)
 gnomAD v4
19g.12650106C>ACA505770891MAN2B1c.2163G>T (p.Val721=)
c.2160G>T (p.Val720=)
n.2753G>T
c.2166G>T (p.Val722=)
c.1062G>T (p.Val354=)
19g.12650106C>GCA505770892MAN2B1c.2163G>C (p.Val721=)
c.2160G>C (p.Val720=)
n.2753G>C
c.2166G>C (p.Val722=)
c.1062G>C (p.Val354=)
 gnomAD v4
19g.12650106C>TCA505770893MAN2B1c.2163G>A (p.Val721=)
c.2160G>A (p.Val720=)
n.2753G>A
c.2166G>A (p.Val722=)
c.1062G>A (p.Val354=)
 gnomAD v4
19g.12650107A=CA2323500082MAN2B1c.2162T= (p.Val721=)
c.2159T= (p.Val720=)
n.2752T=
c.2165T= (p.Val722=)
c.1061T= (p.Val354=)
19g.12650107A>CCA305462877MAN2B1c.2162T>G (p.Val721Gly)
c.2159T>G (p.Val720Gly)
n.2752T>G
c.2165T>G (p.Val722Gly)
c.1061T>G (p.Val354Gly)
 dbSNP
19g.12650107A>GCA404243083MAN2B1c.2162T>C (p.Val721Ala)
c.2159T>C (p.Val720Ala)
n.2752T>C
c.2165T>C (p.Val722Ala)
c.1061T>C (p.Val354Ala)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.12650107A>TCA404243087MAN2B1c.2162T>A (p.Val721Glu)
c.2159T>A (p.Val720Glu)
n.2752T>A
c.2165T>A (p.Val722Glu)
c.1061T>A (p.Val354Glu)
19g.12650108C>ACA404243097MAN2B1c.2161G>T (p.Val721Leu)
c.2158G>T (p.Val720Leu)
n.2751G>T
c.2164G>T (p.Val722Leu)
c.1060G>T (p.Val354Leu)
19g.12650108C=CA2323500083MAN2B1c.2161G= (p.Val721=)
c.2158G= (p.Val720=)
n.2751G=
c.2164G= (p.Val722=)
c.1060G= (p.Val354=)
19g.12650108C>GCA404243098MAN2B1c.2161G>C (p.Val721Leu)
c.2158G>C (p.Val720Leu)
n.2751G>C
c.2164G>C (p.Val722Leu)
c.1060G>C (p.Val354Leu)
19g.12650108C>TCA9226188MAN2B1c.2161G>A (p.Val721Met)
c.2158G>A (p.Val720Met)
n.2751G>A
c.2164G>A (p.Val722Met)
c.1060G>A (p.Val354Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12650109A=CA2323500084MAN2B1c.2160T= (p.Pro720=)
c.2157T= (p.Pro719=)
n.2750T=
c.2163T= (p.Pro721=)
c.1059T= (p.Pro353=)
19g.12650109A>CCA505770897MAN2B1c.2160T>G (p.Pro720=)
c.2157T>G (p.Pro719=)
n.2750T>G
c.2163T>G (p.Pro721=)
c.1059T>G (p.Pro353=)
19g.12650109A>GCA505770898MAN2B1c.2160T>C (p.Pro720=)
c.2157T>C (p.Pro719=)
n.2750T>C
c.2163T>C (p.Pro721=)
c.1059T>C (p.Pro353=)
19g.12650109A>TCA305462880MAN2B1c.2160T>A (p.Pro720=)
c.2157T>A (p.Pro719=)
n.2750T>A
c.2163T>A (p.Pro721=)
c.1059T>A (p.Pro353=)
 ClinVar dbSNP
19g.12650110G>ACA9226189MAN2B1c.2159C>T (p.Pro720Leu)
c.2156C>T (p.Pro719Leu)
n.2749C>T
c.2162C>T (p.Pro721Leu)
c.1058C>T (p.Pro353Leu)
 dbSNP ExAC gnomAD v2
19g.12650110G>CCA305462890MAN2B1c.2159C>G (p.Pro720Arg)
c.2156C>G (p.Pro719Arg)
n.2749C>G
c.2162C>G (p.Pro721Arg)
c.1058C>G (p.Pro353Arg)
 dbSNP gnomAD v4
19g.12650110G=CA2323500085MAN2B1c.2159C= (p.Pro720=)
c.2156C= (p.Pro719=)
n.2749C=
c.2162C= (p.Pro721=)
c.1058C= (p.Pro353=)
19g.12650110G>TCA404243102MAN2B1c.2159C>A (p.Pro720His)
c.2156C>A (p.Pro719His)
n.2749C>A
c.2162C>A (p.Pro721His)
c.1058C>A (p.Pro353His)
 dbSNP
19g.12650111G>ACA404243103MAN2B1c.2158C>T (p.Pro720Ser)
c.2155C>T (p.Pro719Ser)
n.2748C>T
c.2161C>T (p.Pro721Ser)
c.1057C>T (p.Pro353Ser)
 gnomAD v4
19g.12650111G>CCA404243107MAN2B1c.2158C>G (p.Pro720Ala)
c.2155C>G (p.Pro719Ala)
n.2748C>G
c.2161C>G (p.Pro721Ala)
c.1057C>G (p.Pro353Ala)
 dbSNP
19g.12650111G=CA2323500086MAN2B1c.2158C= (p.Pro720=)
c.2155C= (p.Pro719=)
n.2748C=
c.2161C= (p.Pro721=)
c.1057C= (p.Pro353=)
19g.12650111G>TCA404243105MAN2B1c.2158C>A (p.Pro720Thr)
c.2155C>A (p.Pro719Thr)
n.2748C>A
c.2161C>A (p.Pro721Thr)
c.1057C>A (p.Pro353Thr)
 gnomAD v4
19g.12650112T>ACA505770905MAN2B1c.2157A>T (p.Ile719=)
c.2154A>T (p.Ile718=)
n.2747A>T
c.2160A>T (p.Ile720=)
c.1056A>T (p.Ile352=)
19g.12650112T>CCA404243108MAN2B1c.2157A>G (p.Ile719Met)
c.2154A>G (p.Ile718Met)
n.2747A>G
c.2160A>G (p.Ile720Met)
c.1056A>G (p.Ile352Met)
19g.12650112T>GCA505770906MAN2B1c.2157A>C (p.Ile719=)
c.2154A>C (p.Ile718=)
n.2747A>C
c.2160A>C (p.Ile720=)
c.1056A>C (p.Ile352=)
19g.12650113A=CA2323500087MAN2B1c.2156T= (p.Ile719=)
c.2153T= (p.Ile718=)
n.2746T=
c.2159T= (p.Ile720=)
c.1055T= (p.Ile352=)
19g.12650113A>CCA404243116MAN2B1c.2156T>G (p.Ile719Arg)
c.2153T>G (p.Ile718Arg)
n.2746T>G
c.2159T>G (p.Ile720Arg)
c.1055T>G (p.Ile352Arg)
19g.12650113A>GCA404243111MAN2B1c.2156T>C (p.Ile719Thr)
c.2153T>C (p.Ile718Thr)
n.2746T>C
c.2159T>C (p.Ile720Thr)
c.1055T>C (p.Ile352Thr)
 dbSNP gnomAD v4
19g.12650113A>TCA404243113MAN2B1c.2156T>A (p.Ile719Lys)
c.2153T>A (p.Ile718Lys)
n.2746T>A
c.2159T>A (p.Ile720Lys)
c.1055T>A (p.Ile352Lys)
19g.12650113_12650114insGACTTCCTTGAACTGGTGGGCGAAACGCGCGTCGTGGAGCAGGAACTGGCGCGTCAGCTCCTCGAACAGCGTGCCCTTCTCGCGCTCGCTCA2813645160MAN2B1c.2155_2156insAGCGAGCGCGAGAAGGGCACGCTGTTCGAGGAGCTGACGCGCCAGTTCCTGCTCCACGACGCGCGTTTCGCCCACCAGTTCAAGGAAGTC (p.Ile719delinsLysArgAlaArgGluGlyHisAlaValArgGlyAlaAspAlaProValProAlaProArgArgAlaPheArgProProValGlnGlySerLeu)
c.2152_2153insAGCGAGCGCGAGAAGGGCACGCTGTTCGAGGAGCTGACGCGCCAGTTCCTGCTCCACGACGCGCGTTTCGCCCACCAGTTCAAGGAAGTC (p.Ile718delinsLysArgAlaArgGluGlyHisAlaValArgGlyAlaAspAlaProValProAlaProArgArgAlaPheArgProProValGlnGlySerLeu)
n.2745_2746insAGCGAGCGCGAGAAGGGCACGCTGTTCGAGGAGCTGACGCGCCAGTTCCTGCTCCACGACGCGCGTTTCGCCCACCAGTTCAAGGAAGTC
c.2158_2159insAGCGAGCGCGAGAAGGGCACGCTGTTCGAGGAGCTGACGCGCCAGTTCCTGCTCCACGACGCGCGTTTCGCCCACCAGTTCAAGGAAGTC (p.Ile720delinsLysArgAlaArgGluGlyHisAlaValArgGlyAlaAspAlaProValProAlaProArgArgAlaPheArgProProValGlnGlySerLeu)
c.1054_1055insAGCGAGCGCGAGAAGGGCACGCTGTTCGAGGAGCTGACGCGCCAGTTCCTGCTCCACGACGCGCGTTTCGCCCACCAGTTCAAGGAAGTC (p.Ile352delinsLysArgAlaArgGluGlyHisAlaValArgGlyAlaAspAlaProValProAlaProArgArgAlaPheArgProProValGlnGlySerLeu)
19g.12650114T>ACA404243118MAN2B1c.2155A>T (p.Ile719Leu)
c.2152A>T (p.Ile718Leu)
n.2745A>T
c.2158A>T (p.Ile720Leu)
c.1054A>T (p.Ile352Leu)
19g.12650114T>CCA404243120MAN2B1c.2155A>G (p.Ile719Val)
c.2152A>G (p.Ile718Val)
n.2745A>G
c.2158A>G (p.Ile720Val)
c.1054A>G (p.Ile352Val)
19g.12650114T>GCA404243122MAN2B1c.2155A>C (p.Ile719Leu)
c.2152A>C (p.Ile718Leu)
n.2745A>C
c.2158A>C (p.Ile720Leu)
c.1054A>C (p.Ile352Leu)
19g.12650115C>ACA505770907MAN2B1c.2154G>T (p.Pro718=)
c.2151G>T (p.Pro717=)
n.2744G>T
c.2157G>T (p.Pro719=)
c.1053G>T (p.Pro351=)
 gnomAD v4
19g.12650115C=CA2323500088MAN2B1c.2154G= (p.Pro718=)
c.2151G= (p.Pro717=)
n.2744G=
c.2157G= (p.Pro719=)
c.1053G= (p.Pro351=)
19g.12650115C>GCA505770908MAN2B1c.2154G>C (p.Pro718=)
c.2151G>C (p.Pro717=)
n.2744G>C
c.2157G>C (p.Pro719=)
c.1053G>C (p.Pro351=)
 ClinVar dbSNP gnomAD v4
19g.12650115C>TCA505770909MAN2B1c.2154G>A (p.Pro718=)
c.2151G>A (p.Pro717=)
n.2744G>A
c.2157G>A (p.Pro719=)
c.1053G>A (p.Pro351=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.12650116G>ACA9226190MAN2B1c.2153C>T (p.Pro718Leu)
c.2150C>T (p.Pro717Leu)
n.2743C>T
c.2156C>T (p.Pro719Leu)
c.1052C>T (p.Pro351Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.12650116G>CCA404243125MAN2B1c.2153C>G (p.Pro718Arg)
c.2150C>G (p.Pro717Arg)
n.2743C>G
c.2156C>G (p.Pro719Arg)
c.1052C>G (p.Pro351Arg)
19g.12650116G=CA2323500089MAN2B1c.2153C= (p.Pro718=)
c.2150C= (p.Pro717=)
n.2743C=
c.2156C= (p.Pro719=)
c.1052C= (p.Pro351=)
19g.12650116G>TCA404243127MAN2B1c.2153C>A (p.Pro718Gln)
c.2150C>A (p.Pro717Gln)
n.2743C>A
c.2156C>A (p.Pro719Gln)
c.1052C>A (p.Pro351Gln)
19g.12650117G>ACA305462906MAN2B1c.2152C>T (p.Pro718Ser)
c.2149C>T (p.Pro717Ser)
n.2742C>T
c.2155C>T (p.Pro719Ser)
c.1051C>T (p.Pro351Ser)
 dbSNP
19g.12650117G>CCA404243133MAN2B1c.2152C>G (p.Pro718Ala)
c.2149C>G (p.Pro717Ala)
n.2742C>G
c.2155C>G (p.Pro719Ala)
c.1051C>G (p.Pro351Ala)
19g.12650117G=CA2323500090MAN2B1c.2152C= (p.Pro718=)
c.2149C= (p.Pro717=)
n.2742C=
c.2155C= (p.Pro719=)
c.1051C= (p.Pro351=)
19g.12650117G>TCA404243130MAN2B1c.2152C>A (p.Pro718Thr)
c.2149C>A (p.Pro717Thr)
n.2742C>A
c.2155C>A (p.Pro719Thr)
c.1051C>A (p.Pro351Thr)
19g.12650118C>ACA505770916MAN2B1c.2151G>T (p.Gly717=)
c.2148G>T (p.Gly716=)
n.2741G>T
c.2154G>T (p.Gly718=)
c.1050G>T (p.Gly350=)
 gnomAD v4
19g.12650118C=CA2323500091MAN2B1c.2151G= (p.Gly717=)
c.2148G= (p.Gly716=)
n.2741G=
c.2154G= (p.Gly718=)
c.1050G= (p.Gly350=)
19g.12650118C>GCA505770917MAN2B1c.2151G>C (p.Gly717=)
c.2148G>C (p.Gly716=)
n.2741G>C
c.2154G>C (p.Gly718=)
c.1050G>C (p.Gly350=)
19g.12650118C>TCA9226191MAN2B1c.2151G>A (p.Gly717=)
c.2148G>A (p.Gly716=)
n.2741G>A
c.2154G>A (p.Gly718=)
c.1050G>A (p.Gly350=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.12650119C>ACA404243140MAN2B1c.2150G>T (p.Gly717Val)
c.2147G>T (p.Gly716Val)
n.2740G>T
c.2153G>T (p.Gly718Val)
c.1049G>T (p.Gly350Val)
19g.12650119C=CA2323500092MAN2B1c.2150G= (p.Gly717=)
c.2147G= (p.Gly716=)
n.2740G=
c.2153G= (p.Gly718=)
c.1049G= (p.Gly350=)
19g.12650119C>GCA404243142MAN2B1c.2150G>C (p.Gly717Ala)
c.2147G>C (p.Gly716Ala)
n.2740G>C
c.2153G>C (p.Gly718Ala)
c.1049G>C (p.Gly350Ala)
19g.12650119C>TCA404243148MAN2B1c.2150G>A (p.Gly717Glu)
c.2147G>A (p.Gly716Glu)
n.2740G>A
c.2153G>A (p.Gly718Glu)
c.1049G>A (p.Gly350Glu)
 dbSNP gnomAD v2 gnomAD v4
19g.12650120C>ACA404243155MAN2B1c.2149G>T (p.Gly717Trp)
c.2146G>T (p.Gly716Trp)
n.2739G>T
c.2152G>T (p.Gly718Trp)
c.1048G>T (p.Gly350Trp)
 gnomAD v4
19g.12650120C>GCA404243150MAN2B1c.2149G>C (p.Gly717Arg)
c.2146G>C (p.Gly716Arg)
n.2739G>C
c.2152G>C (p.Gly718Arg)
c.1048G>C (p.Gly350Arg)
19g.12650120C>TCA404243152MAN2B1c.2149G>A (p.Gly717Arg)
c.2146G>A (p.Gly716Arg)
n.2739G>A
c.2152G>A (p.Gly718Arg)
c.1048G>A (p.Gly350Arg)
19g.12650121C>ACA505770925MAN2B1c.2148G>T (p.Val716=)
c.2145G>T (p.Val715=)
n.2738G>T
c.2151G>T (p.Val717=)
c.1047G>T (p.Val349=)
19g.12650121C=CA2323500093MAN2B1c.2148G= (p.Val716=)
c.2145G= (p.Val715=)
n.2738G=
c.2151G= (p.Val717=)
c.1047G= (p.Val349=)
19g.12650121C>GCA505770926MAN2B1c.2148G>C (p.Val716=)
c.2145G>C (p.Val715=)
n.2738G>C
c.2151G>C (p.Val717=)
c.1047G>C (p.Val349=)
19g.12650121C>TCA505770924MAN2B1c.2148G>A (p.Val716=)
c.2145G>A (p.Val715=)
n.2738G>A
c.2151G>A (p.Val717=)
c.1047G>A (p.Val349=)
 ClinVar dbSNP
19g.12650122A>CCA404243160MAN2B1c.2147T>G (p.Val716Gly)
c.2144T>G (p.Val715Gly)
n.2737T>G
c.2150T>G (p.Val717Gly)
c.1046T>G (p.Val349Gly)
19g.12650122A>GCA404243162MAN2B1c.2147T>C (p.Val716Ala)
c.2144T>C (p.Val715Ala)
n.2737T>C
c.2150T>C (p.Val717Ala)
c.1046T>C (p.Val349Ala)
 gnomAD v4
19g.12650122A>TCA404243163MAN2B1c.2147T>A (p.Val716Glu)
c.2144T>A (p.Val715Glu)
n.2737T>A
c.2150T>A (p.Val717Glu)
c.1046T>A (p.Val349Glu)
 ClinVar
19g.12650123C>ACA404243166MAN2B1c.2146G>T (p.Val716Leu)
c.2143G>T (p.Val715Leu)
n.2736G>T
c.2149G>T (p.Val717Leu)
c.1045G>T (p.Val349Leu)
19g.12650123C=CA2323500094MAN2B1c.2146G= (p.Val716=)
c.2143G= (p.Val715=)
n.2736G=
c.2149G= (p.Val717=)
c.1045G= (p.Val349=)
19g.12650123C>GCA404243169MAN2B1c.2146G>C (p.Val716Leu)
c.2143G>C (p.Val715Leu)
n.2736G>C
c.2149G>C (p.Val717Leu)
c.1045G>C (p.Val349Leu)
19g.12650123C>TCA9226192MAN2B1c.2146G>A (p.Val716Met)
c.2143G>A (p.Val715Met)
n.2736G>A
c.2149G>A (p.Val717Met)
c.1045G>A (p.Val349Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12650124C>ACA505770936MAN2B1c.2145G>T (p.Ser715=)
c.2142G>T (p.Ser714=)
n.2735G>T
c.2148G>T (p.Ser716=)
c.1044G>T (p.Ser348=)
19g.12650124C=CA2323500095MAN2B1c.2145G= (p.Ser715=)
c.2142G= (p.Ser714=)
n.2735G=
c.2148G= (p.Ser716=)
c.1044G= (p.Ser348=)
19g.12650124C>GCA505770934MAN2B1c.2145G>C (p.Ser715=)
c.2142G>C (p.Ser714=)
n.2735G>C
c.2148G>C (p.Ser716=)
c.1044G>C (p.Ser348=)
 gnomAD v4
19g.12650124C>TCA9226193MAN2B1c.2145G>A (p.Ser715=)
c.2142G>A (p.Ser714=)
n.2735G>A
c.2148G>A (p.Ser716=)
c.1044G>A (p.Ser348=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.12650125G>ACA305462926MAN2B1c.2144C>T (p.Ser715Leu)
c.2141C>T (p.Ser714Leu)
n.2734C>T
c.2147C>T (p.Ser716Leu)
c.1043C>T (p.Ser348Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.12650125G>CCA404243177MAN2B1c.2144C>G (p.Ser715Trp)
c.2141C>G (p.Ser714Trp)
n.2734C>G
c.2147C>G (p.Ser716Trp)
c.1043C>G (p.Ser348Trp)
19g.12650125G=CA2323500096MAN2B1c.2144C= (p.Ser715=)
c.2141C= (p.Ser714=)
n.2734C=
c.2147C= (p.Ser716=)
c.1043C= (p.Ser348=)
19g.12650125G>TCA404243182MAN2B1c.2144C>A (p.Ser715Ter)
c.2141C>A (p.Ser714Ter)
n.2734C>A
c.2147C>A (p.Ser716Ter)
c.1043C>A (p.Ser348Ter)
 gnomAD v4
19g.12650126A>CCA404243185MAN2B1c.2143T>G (p.Ser715Ala)
c.2140T>G (p.Ser714Ala)
n.2733T>G
c.2146T>G (p.Ser716Ala)
c.1042T>G (p.Ser348Ala)
19g.12650126A>GCA404243186MAN2B1c.2143T>C (p.Ser715Pro)
c.2140T>C (p.Ser714Pro)
n.2733T>C
c.2146T>C (p.Ser716Pro)
c.1042T>C (p.Ser348Pro)
19g.12650126A>TCA404243187MAN2B1c.2143T>A (p.Ser715Thr)
c.2140T>A (p.Ser714Thr)
n.2733T>A
c.2146T>A (p.Ser716Thr)
c.1042T>A (p.Ser348Thr)
19g.12650127C>ACA404243188MAN2B1c.2142G>T (p.Trp714Cys)
c.2139G>T (p.Trp713Cys)
n.2732G>T
c.2145G>T (p.Trp715Cys)
c.1041G>T (p.Trp347Cys)
19g.12650127C>GCA404243191MAN2B1c.2142G>C (p.Trp714Cys)
c.2139G>C (p.Trp713Cys)
n.2732G>C
c.2145G>C (p.Trp715Cys)
c.1041G>C (p.Trp347Cys)
19g.12650127C>TCA404243190MAN2B1c.2142G>A (p.Trp714Ter)
c.2139G>A (p.Trp713Ter)
n.2732G>A
c.2145G>A (p.Trp715Ter)
c.1041G>A (p.Trp347Ter)
19g.12650128C>ACA404243192MAN2B1c.2141G>T (p.Trp714Leu)
c.2138G>T (p.Trp713Leu)
n.2731G>T
c.2144G>T (p.Trp715Leu)
c.1040G>T (p.Trp347Leu)
19g.12650128C>GCA404243194MAN2B1c.2141G>C (p.Trp714Ser)
c.2138G>C (p.Trp713Ser)
n.2731G>C
c.2144G>C (p.Trp715Ser)
c.1040G>C (p.Trp347Ser)
19g.12650128C>TCA404243197MAN2B1c.2141G>A (p.Trp714Ter)
c.2138G>A (p.Trp713Ter)
n.2731G>A
c.2144G>A (p.Trp715Ter)
c.1040G>A (p.Trp347Ter)
19g.12650129A=CA2323500097MAN2B1c.2140T= (p.Trp714=)
c.2137T= (p.Trp713=)
n.2730T=
c.2143T= (p.Trp715=)
c.1039T= (p.Trp347=)
19g.12650129A>CCA404243198MAN2B1c.2140T>G (p.Trp714Gly)
c.2137T>G (p.Trp713Gly)
n.2730T>G
c.2143T>G (p.Trp715Gly)
c.1039T>G (p.Trp347Gly)
19g.12650129A>GCA350952MAN2B1c.2140T>C (p.Trp714Arg)
c.2137T>C (p.Trp713Arg)
n.2730T>C
c.2143T>C (p.Trp715Arg)
c.1039T>C (p.Trp347Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.12650129A>TCA404243199MAN2B1c.2140T>A (p.Trp714Arg)
c.2137T>A (p.Trp713Arg)
n.2730T>A
c.2143T>A (p.Trp715Arg)
c.1039T>A (p.Trp347Arg)
19g.12650130C>ACA404243203MAN2B1c.2139G>T (p.Glu713Asp)
c.2136G>T (p.Glu712Asp)
n.2729G>T
c.2142G>T (p.Glu714Asp)
c.1038G>T (p.Glu346Asp)
19g.12650130C>GCA404243200MAN2B1c.2139G>C (p.Glu713Asp)
c.2136G>C (p.Glu712Asp)
n.2729G>C
c.2142G>C (p.Glu714Asp)
c.1038G>C (p.Glu346Asp)
19g.12650130C>TCA505770948MAN2B1c.2139G>A (p.Glu713=)
c.2136G>A (p.Glu712=)
n.2729G>A
c.2142G>A (p.Glu714=)
c.1038G>A (p.Glu346=)
 gnomAD v4
19g.12650131T>ACA404243208MAN2B1c.2138A>T (p.Glu713Val)
c.2135A>T (p.Glu712Val)
n.2728A>T
c.2141A>T (p.Glu714Val)
c.1037A>T (p.Glu346Val)
 dbSNP gnomAD v3 gnomAD v4
19g.12650131T>CCA404243210MAN2B1c.2138A>G (p.Glu713Gly)
c.2135A>G (p.Glu712Gly)
n.2728A>G
c.2141A>G (p.Glu714Gly)
c.1037A>G (p.Glu346Gly)
19g.12650131T>GCA404243211MAN2B1c.2138A>C (p.Glu713Ala)
c.2135A>C (p.Glu712Ala)
n.2728A>C
c.2141A>C (p.Glu714Ala)
c.1037A>C (p.Glu346Ala)
19g.12650131T=CA2323500098MAN2B1c.2138A= (p.Glu713=)
c.2135A= (p.Glu712=)
n.2728A=
c.2141A= (p.Glu714=)
c.1037A= (p.Glu346=)
19g.12650132C>ACA404243215MAN2B1c.2137G>T (p.Glu713Ter)
c.2134G>T (p.Glu712Ter)
n.2727G>T
c.2140G>T (p.Glu714Ter)
c.1036G>T (p.Glu346Ter)
19g.12650132C>GCA404243218MAN2B1c.2137G>C (p.Glu713Gln)
c.2134G>C (p.Glu712Gln)
n.2727G>C
c.2140G>C (p.Glu714Gln)
c.1036G>C (p.Glu346Gln)
 gnomAD v4
19g.12650132C>TCA404243220MAN2B1c.2137G>A (p.Glu713Lys)
c.2134G>A (p.Glu712Lys)
n.2727G>A
c.2140G>A (p.Glu714Lys)
c.1036G>A (p.Glu346Lys)
19g.12650133T>ACA505770954MAN2B1c.2136A>T (p.Leu712=)
c.2133A>T (p.Leu711=)
n.2726A>T
c.2139A>T (p.Leu713=)
c.1035A>T (p.Leu345=)
19g.12650133T>CCA505770955MAN2B1c.2136A>G (p.Leu712=)
c.2133A>G (p.Leu711=)
n.2726A>G
c.2139A>G (p.Leu713=)
c.1035A>G (p.Leu345=)
 dbSNP gnomAD v2 gnomAD v4
19g.12650133T>GCA505770956MAN2B1c.2136A>C (p.Leu712=)
c.2133A>C (p.Leu711=)
n.2726A>C
c.2139A>C (p.Leu713=)
c.1035A>C (p.Leu345=)
19g.12650133T=CA2323500099MAN2B1c.2136A= (p.Leu712=)
c.2133A= (p.Leu711=)
n.2726A=
c.2139A= (p.Leu713=)
c.1035A= (p.Leu345=)
19g.12650134A>CCA404243223MAN2B1c.2135T>G (p.Leu712Arg)
c.2132T>G (p.Leu711Arg)
n.2725T>G
c.2138T>G (p.Leu713Arg)
c.1034T>G (p.Leu345Arg)
19g.12650134A>GCA404243225MAN2B1c.2135T>C (p.Leu712Pro)
c.2132T>C (p.Leu711Pro)
n.2725T>C
c.2138T>C (p.Leu713Pro)
c.1034T>C (p.Leu345Pro)
19g.12650134A>TCA404243224MAN2B1c.2135T>A (p.Leu712Gln)
c.2132T>A (p.Leu711Gln)
n.2725T>A
c.2138T>A (p.Leu713Gln)
c.1034T>A (p.Leu345Gln)
19g.12650135G>ACA505770957MAN2B1c.2134C>T (p.Leu712=)
c.2131C>T (p.Leu711=)
n.2724C>T
c.2137C>T (p.Leu713=)
c.1033C>T (p.Leu345=)
19g.12650135G>CCA404243226MAN2B1c.2134C>G (p.Leu712Val)
c.2131C>G (p.Leu711Val)
n.2724C>G
c.2137C>G (p.Leu713Val)
c.1033C>G (p.Leu345Val)
19g.12650135G>TCA404243227MAN2B1c.2134C>A (p.Leu712Ile)
c.2131C>A (p.Leu711Ile)
n.2724C>A
c.2137C>A (p.Leu713Ile)
c.1033C>A (p.Leu345Ile)
19g.12650136C>ACA404243228MAN2B1c.2133G>T (p.Glu711Asp)
c.2130G>T (p.Glu710Asp)
n.2723G>T
c.2136G>T (p.Glu712Asp)
c.1032G>T (p.Glu344Asp)
19g.12650136C>GCA404243230MAN2B1c.2133G>C (p.Glu711Asp)
c.2130G>C (p.Glu710Asp)
n.2723G>C
c.2136G>C (p.Glu712Asp)
c.1032G>C (p.Glu344Asp)
19g.12650136C>TCA505770960MAN2B1c.2133G>A (p.Glu711=)
c.2130G>A (p.Glu710=)
n.2723G>A
c.2136G>A (p.Glu712=)
c.1032G>A (p.Glu344=)
 ClinVar
19g.12650137T>ACA404243233MAN2B1c.2132A>T (p.Glu711Val)
c.2129A>T (p.Glu710Val)
n.2722A>T
c.2135A>T (p.Glu712Val)
c.1031A>T (p.Glu344Val)
19g.12650137T>CCA404243234MAN2B1c.2132A>G (p.Glu711Gly)
c.2129A>G (p.Glu710Gly)
n.2722A>G
c.2135A>G (p.Glu712Gly)
c.1031A>G (p.Glu344Gly)
19g.12650137T>GCA404243235MAN2B1c.2132A>C (p.Glu711Ala)
c.2129A>C (p.Glu710Ala)
n.2722A>C
c.2135A>C (p.Glu712Ala)
c.1031A>C (p.Glu344Ala)
19g.12650138C>ACA404243239MAN2B1c.2131G>T (p.Glu711Ter)
c.2128G>T (p.Glu710Ter)
n.2721G>T
c.2134G>T (p.Glu712Ter)
c.1030G>T (p.Glu344Ter)
19g.12650138C=CA2323500100MAN2B1c.2131G= (p.Glu711=)
c.2128G= (p.Glu710=)
n.2721G=
c.2134G= (p.Glu712=)
c.1030G= (p.Glu344=)
19g.12650138C>GCA404243241MAN2B1c.2131G>C (p.Glu711Gln)
c.2128G>C (p.Glu710Gln)
n.2721G>C
c.2134G>C (p.Glu712Gln)
c.1030G>C (p.Glu344Gln)
 dbSNP gnomAD v4
19g.12650138C>TCA404243244MAN2B1c.2131G>A (p.Glu711Lys)
c.2128G>A (p.Glu710Lys)
n.2721G>A
c.2134G>A (p.Glu712Lys)
c.1030G>A (p.Glu344Lys)
19g.12650139C>ACA505770966MAN2B1c.2130G>T (p.Leu710=)
c.2127G>T (p.Leu709=)
n.2720G>T
c.2133G>T (p.Leu711=)
c.1029G>T (p.Leu343=)
19g.12650139C>GCA505770968MAN2B1c.2130G>C (p.Leu710=)
c.2127G>C (p.Leu709=)
n.2720G>C
c.2133G>C (p.Leu711=)
c.1029G>C (p.Leu343=)
19g.12650139C>TCA505770969MAN2B1c.2130G>A (p.Leu710=)
c.2127G>A (p.Leu709=)
n.2720G>A
c.2133G>A (p.Leu711=)
c.1029G>A (p.Leu343=)
 gnomAD v4
19g.12650140A>CCA404243250MAN2B1c.2129T>G (p.Leu710Arg)
c.2126T>G (p.Leu709Arg)
n.2719T>G
c.2132T>G (p.Leu711Arg)
c.1028T>G (p.Leu343Arg)
19g.12650140A>GCA404243247MAN2B1c.2129T>C (p.Leu710Pro)
c.2126T>C (p.Leu709Pro)
n.2719T>C
c.2132T>C (p.Leu711Pro)
c.1028T>C (p.Leu343Pro)
 gnomAD v4
19g.12650140A>TCA404243249MAN2B1c.2129T>A (p.Leu710Gln)
c.2126T>A (p.Leu709Gln)
n.2719T>A
c.2132T>A (p.Leu711Gln)
c.1028T>A (p.Leu343Gln)
19g.12650141G>ACA505770971MAN2B1c.2128C>T (p.Leu710=)
c.2125C>T (p.Leu709=)
n.2718C>T
c.2131C>T (p.Leu711=)
c.1027C>T (p.Leu343=)
19g.12650141G>CCA404243254MAN2B1c.2128C>G (p.Leu710Val)
c.2125C>G (p.Leu709Val)
n.2718C>G
c.2131C>G (p.Leu711Val)
c.1027C>G (p.Leu343Val)
19g.12650141G>TCA404243255MAN2B1c.2128C>A (p.Leu710Met)
c.2125C>A (p.Leu709Met)
n.2718C>A
c.2131C>A (p.Leu711Met)
c.1027C>A (p.Leu343Met)
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

Number of alleles fetched