Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.12650102_12650117delinsACCCCACAGGTATCGG | CA2323500078 | MAN2B1 | c.2152_2165+2delinsCCGATACCTGTGGGGT c.2149_2162+2delinsCCGATACCTGTGGGGT n.2742_2755+2delinsCCGATACCTGTGGGGT c.2155_2168+2delinsCCGATACCTGTGGGGT c.1051_1064+2delinsCCGATACCTGTGGGGT | |
19 | g.12650106del | CA658824630 | MAN2B1 | c.2165+1del c.2162+1del n.2755+1del c.2168+1del c.1064+1del | ClinVar dbSNP |
19 | g.12650109_12650123dup | CA2580096692 | MAN2B1 | c.2152_2165+1dup c.2149_2162+1dup n.2742_2755+1dup c.2155_2168+1dup c.1051_1064+1dup | ClinVar |
19 | g.12650109_12650123del | CA2323500080 | MAN2B1 | c.2152_2165+1del c.2149_2162+1del n.2742_2755+1del c.2155_2168+1del c.1051_1064+1del | dbSNP |
19 | g.12650104C>A | CA404243067 | MAN2B1 | c.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 |
19 | g.12650104C= | CA2323500081 | MAN2B1 | c.2165G= (p.Gly722=) c.2162G= (p.Gly721=) n.2755G= c.2168G= (p.Gly723=) c.1064G= (p.Gly355=) | |
19 | g.12650104C>G | CA404243070 | MAN2B1 | c.2165G>C (p.Gly722Ala) c.2162G>C (p.Gly721Ala) n.2755G>C c.2168G>C (p.Gly723Ala) c.1064G>C (p.Gly355Ala) | |
19 | g.12650104C>T | CA9226187 | MAN2B1 | c.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 |
19 | g.12650105C>A | CA404243073 | MAN2B1 | c.2164G>T (p.Gly722Cys) c.2161G>T (p.Gly721Cys) n.2754G>T c.2167G>T (p.Gly723Cys) c.1063G>T (p.Gly355Cys) | |
19 | g.12650105C>G | CA404243075 | MAN2B1 | c.2164G>C (p.Gly722Arg) c.2161G>C (p.Gly721Arg) n.2754G>C c.2167G>C (p.Gly723Arg) c.1063G>C (p.Gly355Arg) | |
19 | g.12650105C>T | CA404243078 | MAN2B1 | c.2164G>A (p.Gly722Ser) c.2161G>A (p.Gly721Ser) n.2754G>A c.2167G>A (p.Gly723Ser) c.1063G>A (p.Gly355Ser) | gnomAD v4 |
19 | g.12650106C>A | CA505770891 | MAN2B1 | c.2163G>T (p.Val721=) c.2160G>T (p.Val720=) n.2753G>T c.2166G>T (p.Val722=) c.1062G>T (p.Val354=) | |
19 | g.12650106C>G | CA505770892 | MAN2B1 | c.2163G>C (p.Val721=) c.2160G>C (p.Val720=) n.2753G>C c.2166G>C (p.Val722=) c.1062G>C (p.Val354=) | gnomAD v4 |
19 | g.12650106C>T | CA505770893 | MAN2B1 | c.2163G>A (p.Val721=) c.2160G>A (p.Val720=) n.2753G>A c.2166G>A (p.Val722=) c.1062G>A (p.Val354=) | gnomAD v4 |
19 | g.12650107A= | CA2323500082 | MAN2B1 | c.2162T= (p.Val721=) c.2159T= (p.Val720=) n.2752T= c.2165T= (p.Val722=) c.1061T= (p.Val354=) | |
19 | g.12650107A>C | CA305462877 | MAN2B1 | c.2162T>G (p.Val721Gly) c.2159T>G (p.Val720Gly) n.2752T>G c.2165T>G (p.Val722Gly) c.1061T>G (p.Val354Gly) | dbSNP |
19 | g.12650107A>G | CA404243083 | MAN2B1 | c.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 |
19 | g.12650107A>T | CA404243087 | MAN2B1 | c.2162T>A (p.Val721Glu) c.2159T>A (p.Val720Glu) n.2752T>A c.2165T>A (p.Val722Glu) c.1061T>A (p.Val354Glu) | |
19 | g.12650108C>A | CA404243097 | MAN2B1 | c.2161G>T (p.Val721Leu) c.2158G>T (p.Val720Leu) n.2751G>T c.2164G>T (p.Val722Leu) c.1060G>T (p.Val354Leu) | |
19 | g.12650108C= | CA2323500083 | MAN2B1 | c.2161G= (p.Val721=) c.2158G= (p.Val720=) n.2751G= c.2164G= (p.Val722=) c.1060G= (p.Val354=) | |
19 | g.12650108C>G | CA404243098 | MAN2B1 | c.2161G>C (p.Val721Leu) c.2158G>C (p.Val720Leu) n.2751G>C c.2164G>C (p.Val722Leu) c.1060G>C (p.Val354Leu) | |
19 | g.12650108C>T | CA9226188 | MAN2B1 | c.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 |
19 | g.12650109A= | CA2323500084 | MAN2B1 | c.2160T= (p.Pro720=) c.2157T= (p.Pro719=) n.2750T= c.2163T= (p.Pro721=) c.1059T= (p.Pro353=) | |
19 | g.12650109A>C | CA505770897 | MAN2B1 | c.2160T>G (p.Pro720=) c.2157T>G (p.Pro719=) n.2750T>G c.2163T>G (p.Pro721=) c.1059T>G (p.Pro353=) | |
19 | g.12650109A>G | CA505770898 | MAN2B1 | c.2160T>C (p.Pro720=) c.2157T>C (p.Pro719=) n.2750T>C c.2163T>C (p.Pro721=) c.1059T>C (p.Pro353=) | |
19 | g.12650109A>T | CA305462880 | MAN2B1 | c.2160T>A (p.Pro720=) c.2157T>A (p.Pro719=) n.2750T>A c.2163T>A (p.Pro721=) c.1059T>A (p.Pro353=) | ClinVar dbSNP |
19 | g.12650110G>A | CA9226189 | MAN2B1 | c.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 |
19 | g.12650110G>C | CA305462890 | MAN2B1 | c.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 |
19 | g.12650110G= | CA2323500085 | MAN2B1 | c.2159C= (p.Pro720=) c.2156C= (p.Pro719=) n.2749C= c.2162C= (p.Pro721=) c.1058C= (p.Pro353=) | |
19 | g.12650110G>T | CA404243102 | MAN2B1 | c.2159C>A (p.Pro720His) c.2156C>A (p.Pro719His) n.2749C>A c.2162C>A (p.Pro721His) c.1058C>A (p.Pro353His) | dbSNP |
19 | g.12650111G>A | CA404243103 | MAN2B1 | c.2158C>T (p.Pro720Ser) c.2155C>T (p.Pro719Ser) n.2748C>T c.2161C>T (p.Pro721Ser) c.1057C>T (p.Pro353Ser) | gnomAD v4 |
19 | g.12650111G>C | CA404243107 | MAN2B1 | c.2158C>G (p.Pro720Ala) c.2155C>G (p.Pro719Ala) n.2748C>G c.2161C>G (p.Pro721Ala) c.1057C>G (p.Pro353Ala) | dbSNP |
19 | g.12650111G= | CA2323500086 | MAN2B1 | c.2158C= (p.Pro720=) c.2155C= (p.Pro719=) n.2748C= c.2161C= (p.Pro721=) c.1057C= (p.Pro353=) | |
19 | g.12650111G>T | CA404243105 | MAN2B1 | c.2158C>A (p.Pro720Thr) c.2155C>A (p.Pro719Thr) n.2748C>A c.2161C>A (p.Pro721Thr) c.1057C>A (p.Pro353Thr) | gnomAD v4 |
19 | g.12650112T>A | CA505770905 | MAN2B1 | c.2157A>T (p.Ile719=) c.2154A>T (p.Ile718=) n.2747A>T c.2160A>T (p.Ile720=) c.1056A>T (p.Ile352=) | |
19 | g.12650112T>C | CA404243108 | MAN2B1 | c.2157A>G (p.Ile719Met) c.2154A>G (p.Ile718Met) n.2747A>G c.2160A>G (p.Ile720Met) c.1056A>G (p.Ile352Met) | |
19 | g.12650112T>G | CA505770906 | MAN2B1 | c.2157A>C (p.Ile719=) c.2154A>C (p.Ile718=) n.2747A>C c.2160A>C (p.Ile720=) c.1056A>C (p.Ile352=) | |
19 | g.12650113A= | CA2323500087 | MAN2B1 | c.2156T= (p.Ile719=) c.2153T= (p.Ile718=) n.2746T= c.2159T= (p.Ile720=) c.1055T= (p.Ile352=) | |
19 | g.12650113A>C | CA404243116 | MAN2B1 | c.2156T>G (p.Ile719Arg) c.2153T>G (p.Ile718Arg) n.2746T>G c.2159T>G (p.Ile720Arg) c.1055T>G (p.Ile352Arg) | |
19 | g.12650113A>G | CA404243111 | MAN2B1 | c.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 |
19 | g.12650113A>T | CA404243113 | MAN2B1 | c.2156T>A (p.Ile719Lys) c.2153T>A (p.Ile718Lys) n.2746T>A c.2159T>A (p.Ile720Lys) c.1055T>A (p.Ile352Lys) | |
19 | g.12650113_12650114insGACTTCCTTGAACTGGTGGGCGAAACGCGCGTCGTGGAGCAGGAACTGGCGCGTCAGCTCCTCGAACAGCGTGCCCTTCTCGCGCTCGCT | CA2813645160 | MAN2B1 | c.2155_2156insAGCGAGCGCGAGAAGGGCACGCTGTTCGAGGAGCTGACGCGCCAGTTCCTGCTCCACGACGCGCGTTTCGCCCACCAGTTCAAGGAAGTC (p.Ile719delinsLysArgAlaArgGluGlyHisAlaValArgGlyAlaAspAlaProValProAlaProArgArgAlaPheArgProProValGlnGlySerLeu) c.2152_2153insAGCGAGCGCGAGAAGGGCACGCTGTTCGAGGAGCTGACGCGCCAGTTCCTGCTCCACGACGCGCGTTTCGCCCACCAGTTCAAGGAAGTC (p.Ile718delinsLysArgAlaArgGluGlyHisAlaValArgGlyAlaAspAlaProValProAlaProArgArgAlaPheArgProProValGlnGlySerLeu) n.2745_2746insAGCGAGCGCGAGAAGGGCACGCTGTTCGAGGAGCTGACGCGCCAGTTCCTGCTCCACGACGCGCGTTTCGCCCACCAGTTCAAGGAAGTC c.2158_2159insAGCGAGCGCGAGAAGGGCACGCTGTTCGAGGAGCTGACGCGCCAGTTCCTGCTCCACGACGCGCGTTTCGCCCACCAGTTCAAGGAAGTC (p.Ile720delinsLysArgAlaArgGluGlyHisAlaValArgGlyAlaAspAlaProValProAlaProArgArgAlaPheArgProProValGlnGlySerLeu) c.1054_1055insAGCGAGCGCGAGAAGGGCACGCTGTTCGAGGAGCTGACGCGCCAGTTCCTGCTCCACGACGCGCGTTTCGCCCACCAGTTCAAGGAAGTC (p.Ile352delinsLysArgAlaArgGluGlyHisAlaValArgGlyAlaAspAlaProValProAlaProArgArgAlaPheArgProProValGlnGlySerLeu) | |
19 | g.12650114T>A | CA404243118 | MAN2B1 | c.2155A>T (p.Ile719Leu) c.2152A>T (p.Ile718Leu) n.2745A>T c.2158A>T (p.Ile720Leu) c.1054A>T (p.Ile352Leu) | |
19 | g.12650114T>C | CA404243120 | MAN2B1 | c.2155A>G (p.Ile719Val) c.2152A>G (p.Ile718Val) n.2745A>G c.2158A>G (p.Ile720Val) c.1054A>G (p.Ile352Val) | |
19 | g.12650114T>G | CA404243122 | MAN2B1 | c.2155A>C (p.Ile719Leu) c.2152A>C (p.Ile718Leu) n.2745A>C c.2158A>C (p.Ile720Leu) c.1054A>C (p.Ile352Leu) | |
19 | g.12650115C>A | CA505770907 | MAN2B1 | c.2154G>T (p.Pro718=) c.2151G>T (p.Pro717=) n.2744G>T c.2157G>T (p.Pro719=) c.1053G>T (p.Pro351=) | gnomAD v4 |
19 | g.12650115C= | CA2323500088 | MAN2B1 | c.2154G= (p.Pro718=) c.2151G= (p.Pro717=) n.2744G= c.2157G= (p.Pro719=) c.1053G= (p.Pro351=) | |
19 | g.12650115C>G | CA505770908 | MAN2B1 | c.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 |
19 | g.12650115C>T | CA505770909 | MAN2B1 | c.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 |
19 | g.12650116G>A | CA9226190 | MAN2B1 | c.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 |
19 | g.12650116G>C | CA404243125 | MAN2B1 | c.2153C>G (p.Pro718Arg) c.2150C>G (p.Pro717Arg) n.2743C>G c.2156C>G (p.Pro719Arg) c.1052C>G (p.Pro351Arg) | |
19 | g.12650116G= | CA2323500089 | MAN2B1 | c.2153C= (p.Pro718=) c.2150C= (p.Pro717=) n.2743C= c.2156C= (p.Pro719=) c.1052C= (p.Pro351=) | |
19 | g.12650116G>T | CA404243127 | MAN2B1 | c.2153C>A (p.Pro718Gln) c.2150C>A (p.Pro717Gln) n.2743C>A c.2156C>A (p.Pro719Gln) c.1052C>A (p.Pro351Gln) | |
19 | g.12650117G>A | CA305462906 | MAN2B1 | c.2152C>T (p.Pro718Ser) c.2149C>T (p.Pro717Ser) n.2742C>T c.2155C>T (p.Pro719Ser) c.1051C>T (p.Pro351Ser) | dbSNP |
19 | g.12650117G>C | CA404243133 | MAN2B1 | c.2152C>G (p.Pro718Ala) c.2149C>G (p.Pro717Ala) n.2742C>G c.2155C>G (p.Pro719Ala) c.1051C>G (p.Pro351Ala) | |
19 | g.12650117G= | CA2323500090 | MAN2B1 | c.2152C= (p.Pro718=) c.2149C= (p.Pro717=) n.2742C= c.2155C= (p.Pro719=) c.1051C= (p.Pro351=) | |
19 | g.12650117G>T | CA404243130 | MAN2B1 | c.2152C>A (p.Pro718Thr) c.2149C>A (p.Pro717Thr) n.2742C>A c.2155C>A (p.Pro719Thr) c.1051C>A (p.Pro351Thr) | |
19 | g.12650118C>A | CA505770916 | MAN2B1 | c.2151G>T (p.Gly717=) c.2148G>T (p.Gly716=) n.2741G>T c.2154G>T (p.Gly718=) c.1050G>T (p.Gly350=) | gnomAD v4 |
19 | g.12650118C= | CA2323500091 | MAN2B1 | c.2151G= (p.Gly717=) c.2148G= (p.Gly716=) n.2741G= c.2154G= (p.Gly718=) c.1050G= (p.Gly350=) | |
19 | g.12650118C>G | CA505770917 | MAN2B1 | c.2151G>C (p.Gly717=) c.2148G>C (p.Gly716=) n.2741G>C c.2154G>C (p.Gly718=) c.1050G>C (p.Gly350=) | |
19 | g.12650118C>T | CA9226191 | MAN2B1 | c.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 |
19 | g.12650119C>A | CA404243140 | MAN2B1 | c.2150G>T (p.Gly717Val) c.2147G>T (p.Gly716Val) n.2740G>T c.2153G>T (p.Gly718Val) c.1049G>T (p.Gly350Val) | |
19 | g.12650119C= | CA2323500092 | MAN2B1 | c.2150G= (p.Gly717=) c.2147G= (p.Gly716=) n.2740G= c.2153G= (p.Gly718=) c.1049G= (p.Gly350=) | |
19 | g.12650119C>G | CA404243142 | MAN2B1 | c.2150G>C (p.Gly717Ala) c.2147G>C (p.Gly716Ala) n.2740G>C c.2153G>C (p.Gly718Ala) c.1049G>C (p.Gly350Ala) | |
19 | g.12650119C>T | CA404243148 | MAN2B1 | c.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 |
19 | g.12650120C>A | CA404243155 | MAN2B1 | c.2149G>T (p.Gly717Trp) c.2146G>T (p.Gly716Trp) n.2739G>T c.2152G>T (p.Gly718Trp) c.1048G>T (p.Gly350Trp) | gnomAD v4 |
19 | g.12650120C>G | CA404243150 | MAN2B1 | c.2149G>C (p.Gly717Arg) c.2146G>C (p.Gly716Arg) n.2739G>C c.2152G>C (p.Gly718Arg) c.1048G>C (p.Gly350Arg) | |
19 | g.12650120C>T | CA404243152 | MAN2B1 | c.2149G>A (p.Gly717Arg) c.2146G>A (p.Gly716Arg) n.2739G>A c.2152G>A (p.Gly718Arg) c.1048G>A (p.Gly350Arg) | |
19 | g.12650121C>A | CA505770925 | MAN2B1 | c.2148G>T (p.Val716=) c.2145G>T (p.Val715=) n.2738G>T c.2151G>T (p.Val717=) c.1047G>T (p.Val349=) | |
19 | g.12650121C= | CA2323500093 | MAN2B1 | c.2148G= (p.Val716=) c.2145G= (p.Val715=) n.2738G= c.2151G= (p.Val717=) c.1047G= (p.Val349=) | |
19 | g.12650121C>G | CA505770926 | MAN2B1 | c.2148G>C (p.Val716=) c.2145G>C (p.Val715=) n.2738G>C c.2151G>C (p.Val717=) c.1047G>C (p.Val349=) | |
19 | g.12650121C>T | CA505770924 | MAN2B1 | c.2148G>A (p.Val716=) c.2145G>A (p.Val715=) n.2738G>A c.2151G>A (p.Val717=) c.1047G>A (p.Val349=) | ClinVar dbSNP |
19 | g.12650122A>C | CA404243160 | MAN2B1 | c.2147T>G (p.Val716Gly) c.2144T>G (p.Val715Gly) n.2737T>G c.2150T>G (p.Val717Gly) c.1046T>G (p.Val349Gly) | |
19 | g.12650122A>G | CA404243162 | MAN2B1 | c.2147T>C (p.Val716Ala) c.2144T>C (p.Val715Ala) n.2737T>C c.2150T>C (p.Val717Ala) c.1046T>C (p.Val349Ala) | gnomAD v4 |
19 | g.12650122A>T | CA404243163 | MAN2B1 | c.2147T>A (p.Val716Glu) c.2144T>A (p.Val715Glu) n.2737T>A c.2150T>A (p.Val717Glu) c.1046T>A (p.Val349Glu) | ClinVar |
19 | g.12650123C>A | CA404243166 | MAN2B1 | c.2146G>T (p.Val716Leu) c.2143G>T (p.Val715Leu) n.2736G>T c.2149G>T (p.Val717Leu) c.1045G>T (p.Val349Leu) | |
19 | g.12650123C= | CA2323500094 | MAN2B1 | c.2146G= (p.Val716=) c.2143G= (p.Val715=) n.2736G= c.2149G= (p.Val717=) c.1045G= (p.Val349=) | |
19 | g.12650123C>G | CA404243169 | MAN2B1 | c.2146G>C (p.Val716Leu) c.2143G>C (p.Val715Leu) n.2736G>C c.2149G>C (p.Val717Leu) c.1045G>C (p.Val349Leu) | |
19 | g.12650123C>T | CA9226192 | MAN2B1 | c.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 |
19 | g.12650124C>A | CA505770936 | MAN2B1 | c.2145G>T (p.Ser715=) c.2142G>T (p.Ser714=) n.2735G>T c.2148G>T (p.Ser716=) c.1044G>T (p.Ser348=) | |
19 | g.12650124C= | CA2323500095 | MAN2B1 | c.2145G= (p.Ser715=) c.2142G= (p.Ser714=) n.2735G= c.2148G= (p.Ser716=) c.1044G= (p.Ser348=) | |
19 | g.12650124C>G | CA505770934 | MAN2B1 | c.2145G>C (p.Ser715=) c.2142G>C (p.Ser714=) n.2735G>C c.2148G>C (p.Ser716=) c.1044G>C (p.Ser348=) | gnomAD v4 |
19 | g.12650124C>T | CA9226193 | MAN2B1 | c.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 |
19 | g.12650125G>A | CA305462926 | MAN2B1 | c.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 |
19 | g.12650125G>C | CA404243177 | MAN2B1 | c.2144C>G (p.Ser715Trp) c.2141C>G (p.Ser714Trp) n.2734C>G c.2147C>G (p.Ser716Trp) c.1043C>G (p.Ser348Trp) | |
19 | g.12650125G= | CA2323500096 | MAN2B1 | c.2144C= (p.Ser715=) c.2141C= (p.Ser714=) n.2734C= c.2147C= (p.Ser716=) c.1043C= (p.Ser348=) | |
19 | g.12650125G>T | CA404243182 | MAN2B1 | c.2144C>A (p.Ser715Ter) c.2141C>A (p.Ser714Ter) n.2734C>A c.2147C>A (p.Ser716Ter) c.1043C>A (p.Ser348Ter) | gnomAD v4 |
19 | g.12650126A>C | CA404243185 | MAN2B1 | c.2143T>G (p.Ser715Ala) c.2140T>G (p.Ser714Ala) n.2733T>G c.2146T>G (p.Ser716Ala) c.1042T>G (p.Ser348Ala) | |
19 | g.12650126A>G | CA404243186 | MAN2B1 | c.2143T>C (p.Ser715Pro) c.2140T>C (p.Ser714Pro) n.2733T>C c.2146T>C (p.Ser716Pro) c.1042T>C (p.Ser348Pro) | |
19 | g.12650126A>T | CA404243187 | MAN2B1 | c.2143T>A (p.Ser715Thr) c.2140T>A (p.Ser714Thr) n.2733T>A c.2146T>A (p.Ser716Thr) c.1042T>A (p.Ser348Thr) | |
19 | g.12650127C>A | CA404243188 | MAN2B1 | c.2142G>T (p.Trp714Cys) c.2139G>T (p.Trp713Cys) n.2732G>T c.2145G>T (p.Trp715Cys) c.1041G>T (p.Trp347Cys) | |
19 | g.12650127C>G | CA404243191 | MAN2B1 | c.2142G>C (p.Trp714Cys) c.2139G>C (p.Trp713Cys) n.2732G>C c.2145G>C (p.Trp715Cys) c.1041G>C (p.Trp347Cys) | |
19 | g.12650127C>T | CA404243190 | MAN2B1 | c.2142G>A (p.Trp714Ter) c.2139G>A (p.Trp713Ter) n.2732G>A c.2145G>A (p.Trp715Ter) c.1041G>A (p.Trp347Ter) | |
19 | g.12650128C>A | CA404243192 | MAN2B1 | c.2141G>T (p.Trp714Leu) c.2138G>T (p.Trp713Leu) n.2731G>T c.2144G>T (p.Trp715Leu) c.1040G>T (p.Trp347Leu) | |
19 | g.12650128C>G | CA404243194 | MAN2B1 | c.2141G>C (p.Trp714Ser) c.2138G>C (p.Trp713Ser) n.2731G>C c.2144G>C (p.Trp715Ser) c.1040G>C (p.Trp347Ser) | |
19 | g.12650128C>T | CA404243197 | MAN2B1 | c.2141G>A (p.Trp714Ter) c.2138G>A (p.Trp713Ter) n.2731G>A c.2144G>A (p.Trp715Ter) c.1040G>A (p.Trp347Ter) | |
19 | g.12650129A= | CA2323500097 | MAN2B1 | c.2140T= (p.Trp714=) c.2137T= (p.Trp713=) n.2730T= c.2143T= (p.Trp715=) c.1039T= (p.Trp347=) | |
19 | g.12650129A>C | CA404243198 | MAN2B1 | c.2140T>G (p.Trp714Gly) c.2137T>G (p.Trp713Gly) n.2730T>G c.2143T>G (p.Trp715Gly) c.1039T>G (p.Trp347Gly) | |
19 | g.12650129A>G | CA350952 | MAN2B1 | c.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 |
19 | g.12650129A>T | CA404243199 | MAN2B1 | c.2140T>A (p.Trp714Arg) c.2137T>A (p.Trp713Arg) n.2730T>A c.2143T>A (p.Trp715Arg) c.1039T>A (p.Trp347Arg) | |
19 | g.12650130C>A | CA404243203 | MAN2B1 | c.2139G>T (p.Glu713Asp) c.2136G>T (p.Glu712Asp) n.2729G>T c.2142G>T (p.Glu714Asp) c.1038G>T (p.Glu346Asp) | |
19 | g.12650130C>G | CA404243200 | MAN2B1 | c.2139G>C (p.Glu713Asp) c.2136G>C (p.Glu712Asp) n.2729G>C c.2142G>C (p.Glu714Asp) c.1038G>C (p.Glu346Asp) | |
19 | g.12650130C>T | CA505770948 | MAN2B1 | c.2139G>A (p.Glu713=) c.2136G>A (p.Glu712=) n.2729G>A c.2142G>A (p.Glu714=) c.1038G>A (p.Glu346=) | gnomAD v4 |
19 | g.12650131T>A | CA404243208 | MAN2B1 | c.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 |
19 | g.12650131T>C | CA404243210 | MAN2B1 | c.2138A>G (p.Glu713Gly) c.2135A>G (p.Glu712Gly) n.2728A>G c.2141A>G (p.Glu714Gly) c.1037A>G (p.Glu346Gly) | |
19 | g.12650131T>G | CA404243211 | MAN2B1 | c.2138A>C (p.Glu713Ala) c.2135A>C (p.Glu712Ala) n.2728A>C c.2141A>C (p.Glu714Ala) c.1037A>C (p.Glu346Ala) | |
19 | g.12650131T= | CA2323500098 | MAN2B1 | c.2138A= (p.Glu713=) c.2135A= (p.Glu712=) n.2728A= c.2141A= (p.Glu714=) c.1037A= (p.Glu346=) | |
19 | g.12650132C>A | CA404243215 | MAN2B1 | c.2137G>T (p.Glu713Ter) c.2134G>T (p.Glu712Ter) n.2727G>T c.2140G>T (p.Glu714Ter) c.1036G>T (p.Glu346Ter) | |
19 | g.12650132C>G | CA404243218 | MAN2B1 | c.2137G>C (p.Glu713Gln) c.2134G>C (p.Glu712Gln) n.2727G>C c.2140G>C (p.Glu714Gln) c.1036G>C (p.Glu346Gln) | gnomAD v4 |
19 | g.12650132C>T | CA404243220 | MAN2B1 | c.2137G>A (p.Glu713Lys) c.2134G>A (p.Glu712Lys) n.2727G>A c.2140G>A (p.Glu714Lys) c.1036G>A (p.Glu346Lys) | |
19 | g.12650133T>A | CA505770954 | MAN2B1 | c.2136A>T (p.Leu712=) c.2133A>T (p.Leu711=) n.2726A>T c.2139A>T (p.Leu713=) c.1035A>T (p.Leu345=) | |
19 | g.12650133T>C | CA505770955 | MAN2B1 | c.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 |
19 | g.12650133T>G | CA505770956 | MAN2B1 | c.2136A>C (p.Leu712=) c.2133A>C (p.Leu711=) n.2726A>C c.2139A>C (p.Leu713=) c.1035A>C (p.Leu345=) | |
19 | g.12650133T= | CA2323500099 | MAN2B1 | c.2136A= (p.Leu712=) c.2133A= (p.Leu711=) n.2726A= c.2139A= (p.Leu713=) c.1035A= (p.Leu345=) | |
19 | g.12650134A>C | CA404243223 | MAN2B1 | c.2135T>G (p.Leu712Arg) c.2132T>G (p.Leu711Arg) n.2725T>G c.2138T>G (p.Leu713Arg) c.1034T>G (p.Leu345Arg) | |
19 | g.12650134A>G | CA404243225 | MAN2B1 | c.2135T>C (p.Leu712Pro) c.2132T>C (p.Leu711Pro) n.2725T>C c.2138T>C (p.Leu713Pro) c.1034T>C (p.Leu345Pro) | |
19 | g.12650134A>T | CA404243224 | MAN2B1 | c.2135T>A (p.Leu712Gln) c.2132T>A (p.Leu711Gln) n.2725T>A c.2138T>A (p.Leu713Gln) c.1034T>A (p.Leu345Gln) | |
19 | g.12650135G>A | CA505770957 | MAN2B1 | c.2134C>T (p.Leu712=) c.2131C>T (p.Leu711=) n.2724C>T c.2137C>T (p.Leu713=) c.1033C>T (p.Leu345=) | |
19 | g.12650135G>C | CA404243226 | MAN2B1 | c.2134C>G (p.Leu712Val) c.2131C>G (p.Leu711Val) n.2724C>G c.2137C>G (p.Leu713Val) c.1033C>G (p.Leu345Val) | |
19 | g.12650135G>T | CA404243227 | MAN2B1 | c.2134C>A (p.Leu712Ile) c.2131C>A (p.Leu711Ile) n.2724C>A c.2137C>A (p.Leu713Ile) c.1033C>A (p.Leu345Ile) | |
19 | g.12650136C>A | CA404243228 | MAN2B1 | c.2133G>T (p.Glu711Asp) c.2130G>T (p.Glu710Asp) n.2723G>T c.2136G>T (p.Glu712Asp) c.1032G>T (p.Glu344Asp) | |
19 | g.12650136C>G | CA404243230 | MAN2B1 | c.2133G>C (p.Glu711Asp) c.2130G>C (p.Glu710Asp) n.2723G>C c.2136G>C (p.Glu712Asp) c.1032G>C (p.Glu344Asp) | |
19 | g.12650136C>T | CA505770960 | MAN2B1 | c.2133G>A (p.Glu711=) c.2130G>A (p.Glu710=) n.2723G>A c.2136G>A (p.Glu712=) c.1032G>A (p.Glu344=) | ClinVar |
19 | g.12650137T>A | CA404243233 | MAN2B1 | c.2132A>T (p.Glu711Val) c.2129A>T (p.Glu710Val) n.2722A>T c.2135A>T (p.Glu712Val) c.1031A>T (p.Glu344Val) | |
19 | g.12650137T>C | CA404243234 | MAN2B1 | c.2132A>G (p.Glu711Gly) c.2129A>G (p.Glu710Gly) n.2722A>G c.2135A>G (p.Glu712Gly) c.1031A>G (p.Glu344Gly) | |
19 | g.12650137T>G | CA404243235 | MAN2B1 | c.2132A>C (p.Glu711Ala) c.2129A>C (p.Glu710Ala) n.2722A>C c.2135A>C (p.Glu712Ala) c.1031A>C (p.Glu344Ala) | |
19 | g.12650138C>A | CA404243239 | MAN2B1 | c.2131G>T (p.Glu711Ter) c.2128G>T (p.Glu710Ter) n.2721G>T c.2134G>T (p.Glu712Ter) c.1030G>T (p.Glu344Ter) | |
19 | g.12650138C= | CA2323500100 | MAN2B1 | c.2131G= (p.Glu711=) c.2128G= (p.Glu710=) n.2721G= c.2134G= (p.Glu712=) c.1030G= (p.Glu344=) | |
19 | g.12650138C>G | CA404243241 | MAN2B1 | c.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 |
19 | g.12650138C>T | CA404243244 | MAN2B1 | c.2131G>A (p.Glu711Lys) c.2128G>A (p.Glu710Lys) n.2721G>A c.2134G>A (p.Glu712Lys) c.1030G>A (p.Glu344Lys) | |
19 | g.12650139C>A | CA505770966 | MAN2B1 | c.2130G>T (p.Leu710=) c.2127G>T (p.Leu709=) n.2720G>T c.2133G>T (p.Leu711=) c.1029G>T (p.Leu343=) | |
19 | g.12650139C>G | CA505770968 | MAN2B1 | c.2130G>C (p.Leu710=) c.2127G>C (p.Leu709=) n.2720G>C c.2133G>C (p.Leu711=) c.1029G>C (p.Leu343=) | |
19 | g.12650139C>T | CA505770969 | MAN2B1 | c.2130G>A (p.Leu710=) c.2127G>A (p.Leu709=) n.2720G>A c.2133G>A (p.Leu711=) c.1029G>A (p.Leu343=) | gnomAD v4 |
19 | g.12650140A>C | CA404243250 | MAN2B1 | c.2129T>G (p.Leu710Arg) c.2126T>G (p.Leu709Arg) n.2719T>G c.2132T>G (p.Leu711Arg) c.1028T>G (p.Leu343Arg) | |
19 | g.12650140A>G | CA404243247 | MAN2B1 | c.2129T>C (p.Leu710Pro) c.2126T>C (p.Leu709Pro) n.2719T>C c.2132T>C (p.Leu711Pro) c.1028T>C (p.Leu343Pro) | gnomAD v4 |
19 | g.12650140A>T | CA404243249 | MAN2B1 | c.2129T>A (p.Leu710Gln) c.2126T>A (p.Leu709Gln) n.2719T>A c.2132T>A (p.Leu711Gln) c.1028T>A (p.Leu343Gln) | |
19 | g.12650141G>A | CA505770971 | MAN2B1 | c.2128C>T (p.Leu710=) c.2125C>T (p.Leu709=) n.2718C>T c.2131C>T (p.Leu711=) c.1027C>T (p.Leu343=) | |
19 | g.12650141G>C | CA404243254 | MAN2B1 | c.2128C>G (p.Leu710Val) c.2125C>G (p.Leu709Val) n.2718C>G c.2131C>G (p.Leu711Val) c.1027C>G (p.Leu343Val) | |
19 | g.12650141G>T | CA404243255 | MAN2B1 | c.2128C>A (p.Leu710Met) c.2125C>A (p.Leu709Met) n.2718C>A c.2131C>A (p.Leu711Met) c.1027C>A (p.Leu343Met) | |
19 | g.12650142G>A | CA505770973 | MAN2B1 | c.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 |
19 | g.12650142G>C | CA404243258 | MAN2B1 | c.2127C>G (p.His709Gln) c.2124C>G (p.His708Gln) n.2717C>G c.2130C>G (p.His710Gln) c.1026C>G (p.His342Gln) | |
19 | g.12650142G= | CA2323500101 | MAN2B1 | c.2127C= (p.His709=) c.2124C= (p.His708=) n.2717C= c.2130C= (p.His710=) c.1026C= (p.His342=) | |
19 | g.12650142G>T | CA404243259 | MAN2B1 | c.2127C>A (p.His709Gln) c.2124C>A (p.His708Gln) n.2717C>A c.2130C>A (p.His710Gln) c.1026C>A (p.His342Gln) | |
19 | g.12650143_12650144del | CA2695198134 | MAN2B1 | c.2126_2127del (p.His709ProfsTer25) c.2123_2124del (p.His708ProfsTer25) n.2716_2717del c.2129_2130del (p.His710ProfsTer25) c.1025_1026del (p.His342ProfsTer25) | ClinVar |
19 | g.12650143T>A | CA404243262 | MAN2B1 | c.2126A>T (p.His709Leu) c.2123A>T (p.His708Leu) n.2716A>T c.2129A>T (p.His710Leu) c.1025A>T (p.His342Leu) | |
19 | g.12650143T>C | CA404243263 | MAN2B1 | c.2126A>G (p.His709Arg) c.2123A>G (p.His708Arg) n.2716A>G c.2129A>G (p.His710Arg) c.1025A>G (p.His342Arg) | |
19 | g.12650143T>G | CA404243264 | MAN2B1 | c.2126A>C (p.His709Pro) c.2123A>C (p.His708Pro) n.2716A>C c.2129A>C (p.His710Pro) c.1025A>C (p.His342Pro) | |
19 | g.12650144G>A | CA9226194 | MAN2B1 | c.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 |
19 | g.12650144G>C | CA404243268 | MAN2B1 | c.2125C>G (p.His709Asp) c.2122C>G (p.His708Asp) n.2715C>G c.2128C>G (p.His710Asp) c.1024C>G (p.His342Asp) | |
19 | g.12650144G= | CA2323500102 | MAN2B1 | c.2125C= (p.His709=) c.2122C= (p.His708=) n.2715C= c.2128C= (p.His710=) c.1024C= (p.His342=) | |
19 | g.12650144G>T | CA404243273 | MAN2B1 | c.2125C>A (p.His709Asn) c.2122C>A (p.His708Asn) n.2715C>A c.2128C>A (p.His710Asn) c.1024C>A (p.His342Asn) | |
19 | g.12650145C>A | CA505770976 | MAN2B1 | c.2124G>T (p.Arg708=) c.2121G>T (p.Arg707=) n.2714G>T c.2127G>T (p.Arg709=) c.1023G>T (p.Arg341=) | |
19 | g.12650145C>G | CA505770977 | MAN2B1 | c.2124G>C (p.Arg708=) c.2121G>C (p.Arg707=) n.2714G>C c.2127G>C (p.Arg709=) c.1023G>C (p.Arg341=) | gnomAD v4 |
19 | g.12650145C>T | CA505770978 | MAN2B1 | c.2124G>A (p.Arg708=) c.2121G>A (p.Arg707=) n.2714G>A c.2127G>A (p.Arg709=) c.1023G>A (p.Arg341=) | |
19 | g.12650146C>A | CA404243275 | MAN2B1 | c.2123G>T (p.Arg708Leu) c.2120G>T (p.Arg707Leu) n.2713G>T c.2126G>T (p.Arg709Leu) c.1022G>T (p.Arg341Leu) | |
19 | g.12650146C= | CA2323500103 | MAN2B1 | c.2123G= (p.Arg708=) c.2120G= (p.Arg707=) n.2713G= c.2126G= (p.Arg709=) c.1022G= (p.Arg341=) | |
19 | g.12650146C>G | CA404243278 | MAN2B1 | c.2123G>C (p.Arg708Pro) c.2120G>C (p.Arg707Pro) n.2713G>C c.2126G>C (p.Arg709Pro) c.1022G>C (p.Arg341Pro) | |
19 | g.12650146C>T | CA9226195 | MAN2B1 | c.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 |
19 | g.12650147G>A | CA9226196 | MAN2B1 | c.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 |
19 | g.12650147G>C | CA404243283 | MAN2B1 | c.2122C>G (p.Arg708Gly) c.2119C>G (p.Arg707Gly) n.2712C>G c.2125C>G (p.Arg709Gly) c.1021C>G (p.Arg341Gly) | |
19 | g.12650147G= | CA2323500104 | MAN2B1 | c.2122C= (p.Arg708=) c.2119C= (p.Arg707=) n.2712C= c.2125C= (p.Arg709=) c.1021C= (p.Arg341=) | |
19 | g.12650147G>T | CA505770980 | MAN2B1 | c.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 |
19 | g.12650148C>A | CA404243285 | MAN2B1 | c.2121G>T (p.Gln707His) c.2118G>T (p.Gln706His) n.2711G>T c.2124G>T (p.Gln708His) c.1020G>T (p.Gln340His) | |
19 | g.12650148C= | CA2323500105 | MAN2B1 | c.2121G= (p.Gln707=) c.2118G= (p.Gln706=) n.2711G= c.2124G= (p.Gln708=) c.1020G= (p.Gln340=) | |
19 | g.12650148C>G | CA404243288 | MAN2B1 | c.2121G>C (p.Gln707His) c.2118G>C (p.Gln706His) n.2711G>C c.2124G>C (p.Gln708His) c.1020G>C (p.Gln340His) | |
19 | g.12650148C>T | CA505770981 | MAN2B1 | c.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 |
19 | g.12650151_12650155dup | CA2739276539 | MAN2B1 | c.2117_2121dup (p.Arg708AspfsTer7) c.2114_2118dup (p.Arg707AspfsTer7) n.2707_2711dup c.2120_2124dup (p.Arg709AspfsTer7) c.1016_1020dup (p.Arg341AspfsTer7) | ClinVar |
19 | g.12650149T>A | CA404243292 | MAN2B1 | c.2120A>T (p.Gln707Leu) c.2117A>T (p.Gln706Leu) n.2710A>T c.2123A>T (p.Gln708Leu) c.1019A>T (p.Gln340Leu) | |
19 | g.12650149T>C | CA404243294 | MAN2B1 | c.2120A>G (p.Gln707Arg) c.2117A>G (p.Gln706Arg) n.2710A>G c.2123A>G (p.Gln708Arg) c.1019A>G (p.Gln340Arg) | |
19 | g.12650149T>G | CA404243297 | MAN2B1 | c.2120A>C (p.Gln707Pro) c.2117A>C (p.Gln706Pro) n.2710A>C c.2123A>C (p.Gln708Pro) c.1019A>C (p.Gln340Pro) | |
19 | g.12650150G>A | CA404243300 | MAN2B1 | c.2119C>T (p.Gln707Ter) c.2116C>T (p.Gln706Ter) n.2709C>T c.2122C>T (p.Gln708Ter) c.1018C>T (p.Gln340Ter) | |
19 | g.12650150G>C | CA404243302 | MAN2B1 | c.2119C>G (p.Gln707Glu) c.2116C>G (p.Gln706Glu) n.2709C>G c.2122C>G (p.Gln708Glu) c.1018C>G (p.Gln340Glu) | |
19 | g.12650150G>T | CA404243304 | MAN2B1 | c.2119C>A (p.Gln707Lys) c.2116C>A (p.Gln706Lys) n.2709C>A c.2122C>A (p.Gln708Lys) c.1018C>A (p.Gln340Lys) | |
19 | g.12650151T>A | CA505770988 | MAN2B1 | c.2118A>T (p.Gly706=) c.2115A>T (p.Gly705=) n.2708A>T c.2121A>T (p.Gly707=) c.1017A>T (p.Gly339=) | |
19 | g.12650151T>C | CA505770989 | MAN2B1 | c.2118A>G (p.Gly706=) c.2115A>G (p.Gly705=) n.2708A>G c.2121A>G (p.Gly707=) c.1017A>G (p.Gly339=) | COSMIC |
19 | g.12650151T>G | CA505770990 | MAN2B1 | c.2118A>C (p.Gly706=) c.2115A>C (p.Gly705=) n.2708A>C c.2121A>C (p.Gly707=) c.1017A>C (p.Gly339=) | |
19 | g.12650152C>A | CA404243306 | MAN2B1 | c.2117G>T (p.Gly706Val) c.2114G>T (p.Gly705Val) n.2707G>T c.2120G>T (p.Gly707Val) c.1016G>T (p.Gly339Val) | |
19 | g.12650152C= | CA2323500106 | MAN2B1 | c.2117G= (p.Gly706=) c.2114G= (p.Gly705=) n.2707G= c.2120G= (p.Gly707=) c.1016G= (p.Gly339=) | |
19 | g.12650152C>G | CA404243307 | MAN2B1 | c.2117G>C (p.Gly706Ala) c.2114G>C (p.Gly705Ala) n.2707G>C c.2120G>C (p.Gly707Ala) c.1016G>C (p.Gly339Ala) | |
19 | g.12650152C>T | CA404243310 | MAN2B1 | c.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 |
19 | g.12650153C>A | CA404243314 | MAN2B1 | c.2116G>T (p.Gly706Ter) c.2113G>T (p.Gly705Ter) n.2706G>T c.2119G>T (p.Gly707Ter) c.1015G>T (p.Gly339Ter) | |
19 | g.12650153C= | CA2323500107 | MAN2B1 | c.2116G= (p.Gly706=) c.2113G= (p.Gly705=) n.2706G= c.2119G= (p.Gly707=) c.1015G= (p.Gly339=) | |
19 | g.12650153C>G | CA404243316 | MAN2B1 | c.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 |
19 | g.12650153C>T | CA404243317 | MAN2B1 | c.2116G>A (p.Gly706Arg) c.2113G>A (p.Gly705Arg) n.2706G>A c.2119G>A (p.Gly707Arg) c.1015G>A (p.Gly339Arg) | dbSNP |
19 | g.12650154T>A | CA505770991 | MAN2B1 | c.2115A>T (p.Pro705=) c.2112A>T (p.Pro704=) n.2705A>T c.2118A>T (p.Pro706=) c.1014A>T (p.Pro338=) | |
19 | g.12650154T>C | CA505770992 | MAN2B1 | c.2115A>G (p.Pro705=) c.2112A>G (p.Pro704=) n.2705A>G c.2118A>G (p.Pro706=) c.1014A>G (p.Pro338=) | |
19 | g.12650154T>G | CA505770993 | MAN2B1 | c.2115A>C (p.Pro705=) c.2112A>C (p.Pro704=) n.2705A>C c.2118A>C (p.Pro706=) c.1014A>C (p.Pro338=) | |
19 | g.12650154_12650155del | CA913015546 | MAN2B1 | c.2114_2115del (p.Pro705ArgfsTer29) c.2111_2112del (p.Pro704ArgfsTer29) n.2704_2705del c.2117_2118del (p.Pro706ArgfsTer29) c.1013_1014del (p.Pro338ArgfsTer29) | |
19 | g.12650154_12650155delinsTG | CA2323500108 | MAN2B1 | c.2114_2115delinsCA (p.Pro705=) c.2111_2112delinsCA (p.Pro704=) n.2704_2705delinsCA c.2117_2118delinsCA (p.Pro706=) c.1013_1014delinsCA (p.Pro338=) | |
19 | g.12650155G>A | CA404243325 | MAN2B1 | c.2114C>T (p.Pro705Leu) c.2111C>T (p.Pro704Leu) n.2704C>T c.2117C>T (p.Pro706Leu) c.1013C>T (p.Pro338Leu) | |
19 | g.12650155G>C | CA404243320 | MAN2B1 | c.2114C>G (p.Pro705Arg) c.2111C>G (p.Pro704Arg) n.2704C>G c.2117C>G (p.Pro706Arg) c.1013C>G (p.Pro338Arg) | |
19 | g.12650155G>T | CA404243322 | MAN2B1 | c.2114C>A (p.Pro705Gln) c.2111C>A (p.Pro704Gln) n.2704C>A c.2117C>A (p.Pro706Gln) c.1013C>A (p.Pro338Gln) | COSMIC |
19 | g.12650155_12650156delinsTA | CA2580096694 | MAN2B1 | c.2113_2114delinsTA (p.Pro705Ter) c.2110_2111delinsTA (p.Pro704Ter) n.2703_2704delinsTA c.2116_2117delinsTA (p.Pro706Ter) c.1012_1013delinsTA (p.Pro338Ter) | ClinVar |
19 | g.12650157del | CA658824631 | MAN2B1 | c.2114del (p.Pro705GlnfsTer8) c.2111del (p.Pro704GlnfsTer8) n.2704del c.2117del (p.Pro706GlnfsTer8) c.1013del (p.Pro338GlnfsTer8) | ClinVar dbSNP |
19 | g.12650156G>A | CA404243328 | MAN2B1 | c.2113C>T (p.Pro705Ser) c.2110C>T (p.Pro704Ser) n.2703C>T c.2116C>T (p.Pro706Ser) c.1012C>T (p.Pro338Ser) | |
19 | g.12650156G>C | CA404243330 | MAN2B1 | c.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 |
19 | g.12650156G= | CA2323500109 | MAN2B1 | c.2113C= (p.Pro705=) c.2110C= (p.Pro704=) n.2703C= c.2116C= (p.Pro706=) c.1012C= (p.Pro338=) | |
19 | g.12650156G>T | CA404243332 | MAN2B1 | c.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 |
19 | g.12650157G>A | CA505770997 | MAN2B1 | c.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 |
19 | g.12650157G>C | CA404243334 | MAN2B1 | c.2112C>G (p.Tyr704Ter) c.2109C>G (p.Tyr703Ter) n.2702C>G c.2115C>G (p.Tyr705Ter) c.1011C>G (p.Tyr337Ter) | gnomAD v4 |
19 | g.12650157G= | CA2323500110 | MAN2B1 | c.2112C= (p.Tyr704=) c.2109C= (p.Tyr703=) n.2702C= c.2115C= (p.Tyr705=) c.1011C= (p.Tyr337=) | |
19 | g.12650157G>T | CA404243336 | MAN2B1 | c.2112C>A (p.Tyr704Ter) c.2109C>A (p.Tyr703Ter) n.2702C>A c.2115C>A (p.Tyr705Ter) c.1011C>A (p.Tyr337Ter) | |
19 | g.12650158T>A | CA404243340 | MAN2B1 | c.2111A>T (p.Tyr704Phe) c.2108A>T (p.Tyr703Phe) n.2701A>T c.2114A>T (p.Tyr705Phe) c.1010A>T (p.Tyr337Phe) | |
19 | g.12650158T>C | CA404243342 | MAN2B1 | c.2111A>G (p.Tyr704Cys) c.2108A>G (p.Tyr703Cys) n.2701A>G c.2114A>G (p.Tyr705Cys) c.1010A>G (p.Tyr337Cys) | |
19 | g.12650158T>G | CA404243343 | MAN2B1 | c.2111A>C (p.Tyr704Ser) c.2108A>C (p.Tyr703Ser) n.2701A>C c.2114A>C (p.Tyr705Ser) c.1010A>C (p.Tyr337Ser) | |
19 | g.12650159A>C | CA404243346 | MAN2B1 | c.2110T>G (p.Tyr704Asp) c.2107T>G (p.Tyr703Asp) n.2700T>G c.2113T>G (p.Tyr705Asp) c.1009T>G (p.Tyr337Asp) | |
19 | g.12650159A>G | CA404243348 | MAN2B1 | c.2110T>C (p.Tyr704His) c.2107T>C (p.Tyr703His) n.2700T>C c.2113T>C (p.Tyr705His) c.1009T>C (p.Tyr337His) | |
19 | g.12650159A>T | CA404243351 | MAN2B1 | c.2110T>A (p.Tyr704Asn) c.2107T>A (p.Tyr703Asn) n.2700T>A c.2113T>A (p.Tyr705Asn) c.1009T>A (p.Tyr337Asn) | |
19 | g.12650160C>A | CA505770999 | MAN2B1 | c.2109G>T (p.Leu703=) c.2106G>T (p.Leu702=) n.2699G>T c.2112G>T (p.Leu704=) c.1008G>T (p.Leu336=) | |
19 | g.12650160C>G | CA505771000 | MAN2B1 | c.2109G>C (p.Leu703=) c.2106G>C (p.Leu702=) n.2699G>C c.2112G>C (p.Leu704=) c.1008G>C (p.Leu336=) | ClinVar |
19 | g.12650160C>T | CA505771001 | MAN2B1 | c.2109G>A (p.Leu703=) c.2106G>A (p.Leu702=) n.2699G>A c.2112G>A (p.Leu704=) c.1008G>A (p.Leu336=) | ClinVar dbSNP |
19 | g.12650161A>C | CA404243355 | MAN2B1 | c.2108T>G (p.Leu703Arg) c.2105T>G (p.Leu702Arg) n.2698T>G c.2111T>G (p.Leu704Arg) c.1007T>G (p.Leu336Arg) | |
19 | g.12650161A>G | CA404243356 | MAN2B1 | c.2108T>C (p.Leu703Pro) c.2105T>C (p.Leu702Pro) n.2698T>C c.2111T>C (p.Leu704Pro) c.1007T>C (p.Leu336Pro) | gnomAD v4 |
19 | g.12650161A>T | CA404243358 | MAN2B1 | c.2108T>A (p.Leu703Gln) c.2105T>A (p.Leu702Gln) n.2698T>A c.2111T>A (p.Leu704Gln) c.1007T>A (p.Leu336Gln) | |
19 | g.12650162G>A | CA505771002 | MAN2B1 | c.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 |
19 | g.12650162G>C | CA404243361 | MAN2B1 | c.2107C>G (p.Leu703Val) c.2104C>G (p.Leu702Val) n.2697C>G c.2110C>G (p.Leu704Val) c.1006C>G (p.Leu336Val) | |
19 | g.12650162G= | CA2323500111 | MAN2B1 | c.2107C= (p.Leu703=) c.2104C= (p.Leu702=) n.2697C= c.2110C= (p.Leu704=) c.1006C= (p.Leu336=) | |
19 | g.12650162G>T | CA404243362 | MAN2B1 | c.2107C>A (p.Leu703Met) c.2104C>A (p.Leu702Met) n.2697C>A c.2110C>A (p.Leu704Met) c.1006C>A (p.Leu336Met) | |
19 | g.12650163G>A | CA505771006 | MAN2B1 | c.2106C>T (p.Arg702=) c.2103C>T (p.Arg701=) n.2696C>T c.2109C>T (p.Arg703=) c.1005C>T (p.Arg335=) | |
19 | g.12650163G>C | CA505771007 | MAN2B1 | c.2106C>G (p.Arg702=) c.2103C>G (p.Arg701=) n.2696C>G c.2109C>G (p.Arg703=) c.1005C>G (p.Arg335=) | |
19 | g.12650163G>T | CA505771005 | MAN2B1 | c.2106C>A (p.Arg702=) c.2103C>A (p.Arg701=) n.2696C>A c.2109C>A (p.Arg703=) c.1005C>A (p.Arg335=) | |
19 | g.12650164C>A | CA404243365 | MAN2B1 | c.2105G>T (p.Arg702Leu) c.2102G>T (p.Arg701Leu) n.2695G>T c.2108G>T (p.Arg703Leu) c.1004G>T (p.Arg335Leu) | |
19 | g.12650164C= | CA2323500112 | MAN2B1 | c.2105G= (p.Arg702=) c.2102G= (p.Arg701=) n.2695G= c.2108G= (p.Arg703=) c.1004G= (p.Arg335=) | |
19 | g.12650164C>G | CA404243368 | MAN2B1 | c.2105G>C (p.Arg702Pro) c.2102G>C (p.Arg701Pro) n.2695G>C c.2108G>C (p.Arg703Pro) c.1004G>C (p.Arg335Pro) | |
19 | g.12650164C>T | CA9226197 | MAN2B1 | c.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 |
19 | g.12650165G>A | CA305462944 | MAN2B1 | c.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 |
19 | g.12650165G>C | CA404243375 | MAN2B1 | c.2104C>G (p.Arg702Gly) c.2101C>G (p.Arg701Gly) n.2694C>G c.2107C>G (p.Arg703Gly) c.1003C>G (p.Arg335Gly) | |
19 | g.12650165G= | CA2323500113 | MAN2B1 | c.2104C= (p.Arg702=) c.2101C= (p.Arg701=) n.2694C= c.2107C= (p.Arg703=) c.1003C= (p.Arg335=) | |
19 | g.12650165G>T | CA404243377 | MAN2B1 | c.2104C>A (p.Arg702Ser) c.2101C>A (p.Arg701Ser) n.2694C>A c.2107C>A (p.Arg703Ser) c.1003C>A (p.Arg335Ser) | |
19 | g.12650166A>C | CA505771010 | MAN2B1 | c.2103T>G (p.Val701=) c.2100T>G (p.Val700=) n.2693T>G c.2106T>G (p.Val702=) c.1002T>G (p.Val334=) | |
19 | g.12650166A>G | CA505771008 | MAN2B1 | c.2103T>C (p.Val701=) c.2100T>C (p.Val700=) n.2693T>C c.2106T>C (p.Val702=) c.1002T>C (p.Val334=) | |
19 | g.12650166A>T | CA505771009 | MAN2B1 | c.2103T>A (p.Val701=) c.2100T>A (p.Val700=) n.2693T>A c.2106T>A (p.Val702=) c.1002T>A (p.Val334=) | |
19 | g.12650167dup | CA2840346957 | MAN2B1 | c.2103dup (p.Arg702SerfsTer?) c.2100dup (p.Arg701SerfsTer?) n.2693dup c.2106dup (p.Arg703SerfsTer?) c.1002dup (p.Arg335SerfsTer?) | |
19 | g.12650167A>C | CA404243379 | MAN2B1 | c.2102T>G (p.Val701Gly) c.2099T>G (p.Val700Gly) n.2692T>G c.2105T>G (p.Val702Gly) c.1001T>G (p.Val334Gly) | |
19 | g.12650167A>G | CA404243381 | MAN2B1 | c.2102T>C (p.Val701Ala) c.2099T>C (p.Val700Ala) n.2692T>C c.2105T>C (p.Val702Ala) c.1001T>C (p.Val334Ala) | |
19 | g.12650167A>T | CA404243386 | MAN2B1 | c.2102T>A (p.Val701Asp) c.2099T>A (p.Val700Asp) n.2692T>A c.2105T>A (p.Val702Asp) c.1001T>A (p.Val334Asp) | |
19 | g.12650168C>A | CA9226199 | MAN2B1 | c.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 |
19 | g.12650168C= | CA2323500114 | MAN2B1 | c.2101G= (p.Val701=) c.2098G= (p.Val700=) n.2691G= c.2104G= (p.Val702=) c.1000G= (p.Val334=) | |
19 | g.12650168C>G | CA404243390 | MAN2B1 | c.2101G>C (p.Val701Leu) c.2098G>C (p.Val700Leu) n.2691G>C c.2104G>C (p.Val702Leu) c.1000G>C (p.Val334Leu) | |
19 | g.12650168C>T | CA9226198 | MAN2B1 | c.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 |
19 | g.12650169C>A | CA505771012 | MAN2B1 | c.2100G>T (p.Val700=) c.2097G>T (p.Val699=) n.2690G>T c.2103G>T (p.Val701=) c.999G>T (p.Val333=) | dbSNP |
19 | g.12650169C= | CA2323500115 | MAN2B1 | c.2100G= (p.Val700=) c.2097G= (p.Val699=) n.2690G= c.2103G= (p.Val701=) c.999G= (p.Val333=) | |
19 | g.12650169C>G | CA505771014 | MAN2B1 | c.2100G>C (p.Val700=) c.2097G>C (p.Val699=) n.2690G>C c.2103G>C (p.Val701=) c.999G>C (p.Val333=) | |
19 | g.12650169C>T | CA505771013 | MAN2B1 | c.2100G>A (p.Val700=) c.2097G>A (p.Val699=) n.2690G>A c.2103G>A (p.Val701=) c.999G>A (p.Val333=) | |
19 | g.12650170A>C | CA404243395 | MAN2B1 | c.2099T>G (p.Val700Gly) c.2096T>G (p.Val699Gly) n.2689T>G c.2102T>G (p.Val701Gly) c.998T>G (p.Val333Gly) | |
19 | g.12650170A>G | CA404243399 | MAN2B1 | c.2099T>C (p.Val700Ala) c.2096T>C (p.Val699Ala) n.2689T>C c.2102T>C (p.Val701Ala) c.998T>C (p.Val333Ala) | |
19 | g.12650170A>T | CA404243397 | MAN2B1 | c.2099T>A (p.Val700Glu) c.2096T>A (p.Val699Glu) n.2689T>A c.2102T>A (p.Val701Glu) c.998T>A (p.Val333Glu) | |
19 | g.12650171C>A | CA404243402 | MAN2B1 | c.2098G>T (p.Val700Leu) c.2095G>T (p.Val699Leu) n.2688G>T c.2101G>T (p.Val701Leu) c.997G>T (p.Val333Leu) | |
19 | g.12650171C>G | CA404243408 | MAN2B1 | c.2098G>C (p.Val700Leu) c.2095G>C (p.Val699Leu) n.2688G>C c.2101G>C (p.Val701Leu) c.997G>C (p.Val333Leu) | |
19 | g.12650171C>T | CA404243406 | MAN2B1 | c.2098G>A (p.Val700Met) c.2095G>A (p.Val699Met) n.2688G>A c.2101G>A (p.Val701Met) c.997G>A (p.Val333Met) | |
19 | g.12650172C>A | CA404243411 | MAN2B1 | c.2097G>T (p.Gln699His) c.2094G>T (p.Gln698His) n.2687G>T c.2100G>T (p.Gln700His) c.996G>T (p.Gln332His) | gnomAD v4 |
19 | g.12650172C= | CA2323500116 | MAN2B1 | c.2097G= (p.Gln699=) c.2094G= (p.Gln698=) n.2687G= c.2100G= (p.Gln700=) c.996G= (p.Gln332=) | |
19 | g.12650172C>G | CA9226200 | MAN2B1 | c.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 |
19 | g.12650172C>T | CA305462956 | MAN2B1 | c.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 |
19 | g.12650173T>A | CA404243417 | MAN2B1 | c.2096A>T (p.Gln699Leu) c.2093A>T (p.Gln698Leu) n.2686A>T c.2099A>T (p.Gln700Leu) c.995A>T (p.Gln332Leu) | |
19 | g.12650173T>C | CA404243418 | MAN2B1 | c.2096A>G (p.Gln699Arg) c.2093A>G (p.Gln698Arg) n.2686A>G c.2099A>G (p.Gln700Arg) c.995A>G (p.Gln332Arg) | gnomAD v4 |
19 | g.12650173T>G | CA404243420 | MAN2B1 | c.2096A>C (p.Gln699Pro) c.2093A>C (p.Gln698Pro) n.2686A>C c.2099A>C (p.Gln700Pro) c.995A>C (p.Gln332Pro) | |
19 | g.12650174G>A | CA404243423 | MAN2B1 | c.2095C>T (p.Gln699Ter) c.2092C>T (p.Gln698Ter) n.2685C>T c.2098C>T (p.Gln700Ter) c.994C>T (p.Gln332Ter) | |
19 | g.12650174G>C | CA404243425 | MAN2B1 | c.2095C>G (p.Gln699Glu) c.2092C>G (p.Gln698Glu) n.2685C>G c.2098C>G (p.Gln700Glu) c.994C>G (p.Gln332Glu) | |
19 | g.12650174G>T | CA404243426 | MAN2B1 | c.2095C>A (p.Gln699Lys) c.2092C>A (p.Gln698Lys) n.2685C>A c.2098C>A (p.Gln700Lys) c.994C>A (p.Gln332Lys) | |
19 | g.12650175G>A | CA505771015 | MAN2B1 | c.2094C>T (p.Ser698=) c.2091C>T (p.Ser697=) n.2684C>T c.2097C>T (p.Ser699=) c.993C>T (p.Ser331=) | gnomAD v4 |
19 | g.12650175G>C | CA505771016 | MAN2B1 | c.2094C>G (p.Ser698=) c.2091C>G (p.Ser697=) n.2684C>G c.2097C>G (p.Ser699=) c.993C>G (p.Ser331=) | |
19 | g.12650175G>T | CA505771017 | MAN2B1 | c.2094C>A (p.Ser698=) c.2091C>A (p.Ser697=) n.2684C>A c.2097C>A (p.Ser699=) c.993C>A (p.Ser331=) | COSMIC |
19 | g.12650176G>A | CA404243429 | MAN2B1 | c.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 |
19 | g.12650176G>C | CA404243431 | MAN2B1 | c.2093C>G (p.Ser698Cys) c.2090C>G (p.Ser697Cys) n.2683C>G c.2096C>G (p.Ser699Cys) c.992C>G (p.Ser331Cys) | |
19 | g.12650176G= | CA2323500117 | MAN2B1 | c.2093C= (p.Ser698=) c.2090C= (p.Ser697=) n.2683C= c.2096C= (p.Ser699=) c.992C= (p.Ser331=) | |
19 | g.12650176G>T | CA404243438 | MAN2B1 | c.2093C>A (p.Ser698Tyr) c.2090C>A (p.Ser697Tyr) n.2683C>A c.2096C>A (p.Ser699Tyr) c.992C>A (p.Ser331Tyr) | |
19 | g.12650177A>C | CA404243448 | MAN2B1 | c.2092T>G (p.Ser698Ala) c.2089T>G (p.Ser697Ala) n.2682T>G c.2095T>G (p.Ser699Ala) c.991T>G (p.Ser331Ala) | gnomAD v4 |
19 | g.12650177A>G | CA404243447 | MAN2B1 | c.2092T>C (p.Ser698Pro) c.2089T>C (p.Ser697Pro) n.2682T>C c.2095T>C (p.Ser699Pro) c.991T>C (p.Ser331Pro) | |
19 | g.12650177A>T | CA404243443 | MAN2B1 | c.2092T>A (p.Ser698Thr) c.2089T>A (p.Ser697Thr) n.2682T>A c.2095T>A (p.Ser699Thr) c.991T>A (p.Ser331Thr) | |
19 | g.12650178A= | CA2323500118 | MAN2B1 | c.2091T= (p.Cys697=) c.2088T= (p.Cys696=) n.2681T= c.2094T= (p.Cys698=) c.990T= (p.Cys330=) | |
19 | g.12650178A>C | CA404243449 | MAN2B1 | c.2091T>G (p.Cys697Trp) c.2088T>G (p.Cys696Trp) n.2681T>G c.2094T>G (p.Cys698Trp) c.990T>G (p.Cys330Trp) | |
19 | g.12650178A>G | CA505771018 | MAN2B1 | c.2091T>C (p.Cys697=) c.2088T>C (p.Cys696=) n.2681T>C c.2094T>C (p.Cys698=) c.990T>C (p.Cys330=) | |
19 | g.12650178A>T | CA404243452 | MAN2B1 | c.2091T>A (p.Cys697Ter) c.2088T>A (p.Cys696Ter) n.2681T>A c.2094T>A (p.Cys698Ter) c.990T>A (p.Cys330Ter) | ClinVar dbSNP |
19 | g.12650179C>A | CA404243455 | MAN2B1 | c.2090G>T (p.Cys697Phe) c.2087G>T (p.Cys696Phe) n.2680G>T c.2093G>T (p.Cys698Phe) c.989G>T (p.Cys330Phe) | |
19 | g.12650179C>G | CA404243458 | MAN2B1 | c.2090G>C (p.Cys697Ser) c.2087G>C (p.Cys696Ser) n.2680G>C c.2093G>C (p.Cys698Ser) c.989G>C (p.Cys330Ser) | |
19 | g.12650179C>T | CA404243460 | MAN2B1 | c.2090G>A (p.Cys697Tyr) c.2087G>A (p.Cys696Tyr) n.2680G>A c.2093G>A (p.Cys698Tyr) c.989G>A (p.Cys330Tyr) | |
19 | g.12650180A>C | CA404243462 | MAN2B1 | c.2089T>G (p.Cys697Gly) c.2086T>G (p.Cys696Gly) n.2679T>G c.2092T>G (p.Cys698Gly) c.988T>G (p.Cys330Gly) | |
19 | g.12650180A>G | CA404243466 | MAN2B1 | c.2089T>C (p.Cys697Arg) c.2086T>C (p.Cys696Arg) n.2679T>C c.2092T>C (p.Cys698Arg) c.988T>C (p.Cys330Arg) | |
19 | g.12650180A>T | CA404243469 | MAN2B1 | c.2089T>A (p.Cys697Ser) c.2086T>A (p.Cys696Ser) n.2679T>A c.2092T>A (p.Cys698Ser) c.988T>A (p.Cys330Ser) | |
19 | g.12650181C>A | CA404243470 | MAN2B1 | c.2088G>T (p.Trp696Cys) c.2085G>T (p.Trp695Cys) n.2678G>T c.2091G>T (p.Trp697Cys) c.987G>T (p.Trp329Cys) | |
19 | g.12650181C= | CA2323500119 | MAN2B1 | c.2088G= (p.Trp696=) c.2085G= (p.Trp695=) n.2678G= c.2091G= (p.Trp697=) c.987G= (p.Trp329=) | |
19 | g.12650181C>G | CA404243473 | MAN2B1 | c.2088G>C (p.Trp696Cys) c.2085G>C (p.Trp695Cys) n.2678G>C c.2091G>C (p.Trp697Cys) c.987G>C (p.Trp329Cys) | |
19 | g.12650181C>T | CA9226201 | MAN2B1 | c.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 |
19 | g.12650182C>A | CA404243479 | MAN2B1 | c.2087G>T (p.Trp696Leu) c.2084G>T (p.Trp695Leu) n.2677G>T c.2090G>T (p.Trp697Leu) c.986G>T (p.Trp329Leu) | gnomAD v4 |
19 | g.12650182C>G | CA404243481 | MAN2B1 | c.2087G>C (p.Trp696Ser) c.2084G>C (p.Trp695Ser) n.2677G>C c.2090G>C (p.Trp697Ser) c.986G>C (p.Trp329Ser) | |
19 | g.12650182C>T | CA404243477 | MAN2B1 | c.2087G>A (p.Trp696Ter) c.2084G>A (p.Trp695Ter) n.2677G>A c.2090G>A (p.Trp697Ter) c.986G>A (p.Trp329Ter) | |
19 | g.12650183A>C | CA404243484 | MAN2B1 | c.2086T>G (p.Trp696Gly) c.2083T>G (p.Trp695Gly) n.2676T>G c.2089T>G (p.Trp697Gly) c.985T>G (p.Trp329Gly) | |
19 | g.12650183A>G | CA404243485 | MAN2B1 | c.2086T>C (p.Trp696Arg) c.2083T>C (p.Trp695Arg) n.2676T>C c.2089T>C (p.Trp697Arg) c.985T>C (p.Trp329Arg) | gnomAD v4 |
19 | g.12650183A>T | CA404243487 | MAN2B1 | c.2086T>A (p.Trp696Arg) c.2083T>A (p.Trp695Arg) n.2676T>A c.2089T>A (p.Trp697Arg) c.985T>A (p.Trp329Arg) | |
19 | g.12650184A>C | CA505771021 | MAN2B1 | c.2085T>G (p.Ala695=) c.2082T>G (p.Ala694=) n.2675T>G c.2088T>G (p.Ala696=) c.984T>G (p.Ala328=) | |
19 | g.12650184A>G | CA505771020 | MAN2B1 | c.2085T>C (p.Ala695=) c.2082T>C (p.Ala694=) n.2675T>C c.2088T>C (p.Ala696=) c.984T>C (p.Ala328=) | ClinVar dbSNP |
19 | g.12650184A>T | CA505771019 | MAN2B1 | c.2085T>A (p.Ala695=) c.2082T>A (p.Ala694=) n.2675T>A c.2088T>A (p.Ala696=) c.984T>A (p.Ala328=) | |
19 | g.12650185G>A | CA404243489 | MAN2B1 | c.2084C>T (p.Ala695Val) c.2081C>T (p.Ala694Val) n.2674C>T c.2087C>T (p.Ala696Val) c.983C>T (p.Ala328Val) | |
19 | g.12650185G>C | CA9226202 | MAN2B1 | c.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 |
19 | g.12650185G= | CA2323500120 | MAN2B1 | c.2084C= (p.Ala695=) c.2081C= (p.Ala694=) n.2674C= c.2087C= (p.Ala696=) c.983C= (p.Ala328=) | |
19 | g.12650185G>T | CA404243494 | MAN2B1 | c.2084C>A (p.Ala695Asp) c.2081C>A (p.Ala694Asp) n.2674C>A c.2087C>A (p.Ala696Asp) c.983C>A (p.Ala328Asp) | |
19 | g.12650186C>A | CA404243498 | MAN2B1 | c.2083G>T (p.Ala695Ser) c.2080G>T (p.Ala694Ser) n.2673G>T c.2086G>T (p.Ala696Ser) c.982G>T (p.Ala328Ser) | |
19 | g.12650186C>G | CA404243500 | MAN2B1 | c.2083G>C (p.Ala695Pro) c.2080G>C (p.Ala694Pro) n.2673G>C c.2086G>C (p.Ala696Pro) c.982G>C (p.Ala328Pro) | |
19 | g.12650186C>T | CA404243502 | MAN2B1 | c.2083G>A (p.Ala695Thr) c.2080G>A (p.Ala694Thr) n.2673G>A c.2086G>A (p.Ala696Thr) c.982G>A (p.Ala328Thr) | gnomAD v4 |
19 | g.12650187T>A | CA505771022 | MAN2B1 | c.2082A>T (p.Ser694=) c.2079A>T (p.Ser693=) n.2672A>T c.2085A>T (p.Ser695=) c.981A>T (p.Ser327=) | |
19 | g.12650187T>C | CA505771023 | MAN2B1 | c.2082A>G (p.Ser694=) c.2079A>G (p.Ser693=) n.2672A>G c.2085A>G (p.Ser695=) c.981A>G (p.Ser327=) | |
19 | g.12650187T>G | CA505771024 | MAN2B1 | c.2082A>C (p.Ser694=) c.2079A>C (p.Ser693=) n.2672A>C c.2085A>C (p.Ser695=) c.981A>C (p.Ser327=) | |
19 | g.12650187dup | CA2840346958 | MAN2B1 | c.2082dup (p.Ala695SerfsTer?) c.2079dup (p.Ala694SerfsTer?) n.2672dup c.2085dup (p.Ala696SerfsTer?) c.981dup (p.Ala328SerfsTer?) | |
19 | g.12650188G>A | CA404243506 | MAN2B1 | c.2081C>T (p.Ser694Leu) c.2078C>T (p.Ser693Leu) n.2671C>T c.2084C>T (p.Ser695Leu) c.980C>T (p.Ser327Leu) | gnomAD v4 |
19 | g.12650188G>C | CA404243507 | MAN2B1 | c.2081C>G (p.Ser694Ter) c.2078C>G (p.Ser693Ter) n.2671C>G c.2084C>G (p.Ser695Ter) c.980C>G (p.Ser327Ter) | |
19 | g.12650188G>T | CA404243510 | MAN2B1 | c.2081C>A (p.Ser694Ter) c.2078C>A (p.Ser693Ter) n.2671C>A c.2084C>A (p.Ser695Ter) c.980C>A (p.Ser327Ter) | |
19 | g.12650188_12650190del | CA2582718689 | MAN2B1 | c.2079_2081del (p.Phe693_Ser694delinsLeu) c.2076_2078del (p.Phe692_Ser693delinsLeu) n.2669_2671del c.2082_2084del (p.Phe694_Ser695delinsLeu) c.978_980del (p.Phe326_Ser327delinsLeu) | gnomAD v4 |
19 | g.12650188_12650191delinsGAGA | CA2323500121 | MAN2B1 | c.2078_2081delinsTCTC (p.Phe693=) c.2075_2078delinsTCTC (p.Phe692=) n.2668_2671delinsTCTC c.2081_2084delinsTCTC (p.Phe694=) c.977_980delinsTCTC (p.Phe326=) | |
19 | g.12650189A>C | CA404243518 | MAN2B1 | c.2080T>G (p.Ser694Ala) c.2077T>G (p.Ser693Ala) n.2670T>G c.2083T>G (p.Ser695Ala) c.979T>G (p.Ser327Ala) | |
19 | g.12650189A>G | CA404243513 | MAN2B1 | c.2080T>C (p.Ser694Pro) c.2077T>C (p.Ser693Pro) n.2670T>C c.2083T>C (p.Ser695Pro) c.979T>C (p.Ser327Pro) | COSMIC |
19 | g.12650189A>T | CA404243516 | MAN2B1 | c.2080T>A (p.Ser694Thr) c.2077T>A (p.Ser693Thr) n.2670T>A c.2083T>A (p.Ser695Thr) c.979T>A (p.Ser327Thr) | |
19 | g.12650191_12650193del | CA9226203 | MAN2B1 | c.2078_2080del (p.Phe693del) c.2075_2077del (p.Phe692del) n.2668_2670del c.2081_2083del (p.Phe694del) c.977_979del (p.Phe326del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12650190G>A | CA505771025 | MAN2B1 | c.2079C>T (p.Phe693=) c.2076C>T (p.Phe692=) n.2669C>T c.2082C>T (p.Phe694=) c.978C>T (p.Phe326=) | gnomAD v4 COSMIC |
19 | g.12650190G>C | CA404243521 | MAN2B1 | c.2079C>G (p.Phe693Leu) c.2076C>G (p.Phe692Leu) n.2669C>G c.2082C>G (p.Phe694Leu) c.978C>G (p.Phe326Leu) | |
19 | g.12650190G= | CA2323500122 | MAN2B1 | c.2079C= (p.Phe693=) c.2076C= (p.Phe692=) n.2669C= c.2082C= (p.Phe694=) c.978C= (p.Phe326=) | |
19 | g.12650190G>T | CA9226204 | MAN2B1 | c.2079C>A (p.Phe693Leu) c.2076C>A (p.Phe692Leu) n.2669C>A c.2082C>A (p.Phe694Leu) c.978C>A (p.Phe326Leu) | dbSNP ExAC gnomAD v4 |
19 | g.12650191A>C | CA404243525 | MAN2B1 | c.2078T>G (p.Phe693Cys) c.2075T>G (p.Phe692Cys) n.2668T>G c.2081T>G (p.Phe694Cys) c.977T>G (p.Phe326Cys) | COSMIC |
19 | g.12650191A>G | CA404243528 | MAN2B1 | c.2078T>C (p.Phe693Ser) c.2075T>C (p.Phe692Ser) n.2668T>C c.2081T>C (p.Phe694Ser) c.977T>C (p.Phe326Ser) | |
19 | g.12650191A>T | CA404243530 | MAN2B1 | c.2078T>A (p.Phe693Tyr) c.2075T>A (p.Phe692Tyr) n.2668T>A c.2081T>A (p.Phe694Tyr) c.977T>A (p.Phe326Tyr) | |
19 | g.12650191_12650192insTCAGTCAGCACAGTCAGCTGCATGTTTCCATCCTGGGAGTTGAAGGGTGAAAGTAGAGGGC | CA2582718690 | MAN2B1 | c.2077_2078insGCCCTCTACTTTCACCCTTCAACTCCCAGGATGGAAACATGCAGCTGACTGTGCTGACTGA (p.Phe693CysfsTer?) c.2074_2075insGCCCTCTACTTTCACCCTTCAACTCCCAGGATGGAAACATGCAGCTGACTGTGCTGACTGA (p.Phe692CysfsTer?) n.2667_2668insGCCCTCTACTTTCACCCTTCAACTCCCAGGATGGAAACATGCAGCTGACTGTGCTGACTGA c.2080_2081insGCCCTCTACTTTCACCCTTCAACTCCCAGGATGGAAACATGCAGCTGACTGTGCTGACTGA (p.Phe694CysfsTer?) c.976_977insGCCCTCTACTTTCACCCTTCAACTCCCAGGATGGAAACATGCAGCTGACTGTGCTGACTGA (p.Phe326CysfsTer?) | gnomAD v4 |
19 | g.12650192A>C | CA404243532 | MAN2B1 | c.2077T>G (p.Phe693Val) c.2074T>G (p.Phe692Val) n.2667T>G c.2080T>G (p.Phe694Val) c.976T>G (p.Phe326Val) | |
19 | g.12650192A>G | CA404243534 | MAN2B1 | c.2077T>C (p.Phe693Leu) c.2074T>C (p.Phe692Leu) n.2667T>C c.2080T>C (p.Phe694Leu) c.976T>C (p.Phe326Leu) | |
19 | g.12650192A>T | CA404243535 | MAN2B1 | c.2077T>A (p.Phe693Ile) c.2074T>A (p.Phe692Ile) n.2667T>A c.2080T>A (p.Phe694Ile) c.976T>A (p.Phe326Ile) | |
19 | g.12650193G>A | CA305462989 | MAN2B1 | c.2076C>T (p.Asn692=) c.2073C>T (p.Asn691=) n.2666C>T c.2079C>T (p.Asn693=) c.975C>T (p.Asn325=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12650193G>C | CA404243540 | MAN2B1 | c.2076C>G (p.Asn692Lys) c.2073C>G (p.Asn691Lys) n.2666C>G c.2079C>G (p.Asn693Lys) c.975C>G (p.Asn325Lys) | |
19 | g.12650193G= | CA2323500123 | MAN2B1 | c.2076C= (p.Asn692=) c.2073C= (p.Asn691=) n.2666C= c.2079C= (p.Asn693=) c.975C= (p.Asn325=) | |
19 | g.12650193G>T | CA404243542 | MAN2B1 | c.2076C>A (p.Asn692Lys) c.2073C>A (p.Asn691Lys) n.2666C>A c.2079C>A (p.Asn693Lys) c.975C>A (p.Asn325Lys) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.12650194T>A | CA404243547 | MAN2B1 | c.2075A>T (p.Asn692Ile) c.2072A>T (p.Asn691Ile) n.2665A>T c.2078A>T (p.Asn693Ile) c.974A>T (p.Asn325Ile) | |
19 | g.12650194T>C | CA404243550 | MAN2B1 | c.2075A>G (p.Asn692Ser) c.2072A>G (p.Asn691Ser) n.2665A>G c.2078A>G (p.Asn693Ser) c.974A>G (p.Asn325Ser) | |
19 | g.12650194T>G | CA404243545 | MAN2B1 | c.2075A>C (p.Asn692Thr) c.2072A>C (p.Asn691Thr) n.2665A>C c.2078A>C (p.Asn693Thr) c.974A>C (p.Asn325Thr) | |
19 | g.12650195T>A | CA404243558 | MAN2B1 | c.2074A>T (p.Asn692Tyr) c.2071A>T (p.Asn691Tyr) n.2664A>T c.2077A>T (p.Asn693Tyr) c.973A>T (p.Asn325Tyr) | gnomAD v4 |
19 | g.12650195T>C | CA404243554 | MAN2B1 | c.2074A>G (p.Asn692Asp) c.2071A>G (p.Asn691Asp) n.2664A>G c.2077A>G (p.Asn693Asp) c.973A>G (p.Asn325Asp) | |
19 | g.12650195T>G | CA404243555 | MAN2B1 | c.2074A>C (p.Asn692His) c.2071A>C (p.Asn691His) n.2664A>C c.2077A>C (p.Asn693His) c.973A>C (p.Asn325His) | |
19 | g.12650196C>A | CA404243560 | MAN2B1 | c.2073G>T (p.Gln691His) c.2070G>T (p.Gln690His) n.2663G>T c.2076G>T (p.Gln692His) c.972G>T (p.Gln324His) | |
19 | g.12650196C= | CA2323500124 | MAN2B1 | c.2073G= (p.Gln691=) c.2070G= (p.Gln690=) n.2663G= c.2076G= (p.Gln692=) c.972G= (p.Gln324=) | |
19 | g.12650196C>G | CA305462994 | MAN2B1 | c.2073G>C (p.Gln691His) c.2070G>C (p.Gln690His) n.2663G>C c.2076G>C (p.Gln692His) c.972G>C (p.Gln324His) | dbSNP |
19 | g.12650196C>T | CA505771026 | MAN2B1 | c.2073G>A (p.Gln691=) c.2070G>A (p.Gln690=) n.2663G>A c.2076G>A (p.Gln692=) c.972G>A (p.Gln324=) | |
19 | g.12650197T>A | CA404243563 | MAN2B1 | c.2072A>T (p.Gln691Leu) c.2069A>T (p.Gln690Leu) n.2662A>T c.2075A>T (p.Gln692Leu) c.971A>T (p.Gln324Leu) | |
19 | g.12650197T>C | CA404243564 | MAN2B1 | c.2072A>G (p.Gln691Arg) c.2069A>G (p.Gln690Arg) n.2662A>G c.2075A>G (p.Gln692Arg) c.971A>G (p.Gln324Arg) | |
19 | g.12650197T>G | CA404243567 | MAN2B1 | c.2072A>C (p.Gln691Pro) c.2069A>C (p.Gln690Pro) n.2662A>C c.2075A>C (p.Gln692Pro) c.971A>C (p.Gln324Pro) | |
19 | g.12650198G>A | CA404243570 | MAN2B1 | c.2071C>T (p.Gln691Ter) c.2068C>T (p.Gln690Ter) n.2661C>T c.2074C>T (p.Gln692Ter) c.970C>T (p.Gln324Ter) | ClinVar dbSNP |
19 | g.12650198G>C | CA404243573 | MAN2B1 | c.2071C>G (p.Gln691Glu) c.2068C>G (p.Gln690Glu) n.2661C>G c.2074C>G (p.Gln692Glu) c.970C>G (p.Gln324Glu) | |
19 | g.12650198G= | CA2323500125 | MAN2B1 | c.2071C= (p.Gln691=) c.2068C= (p.Gln690=) n.2661C= c.2074C= (p.Gln692=) c.970C= (p.Gln324=) | |
19 | g.12650198G>T | CA404243575 | MAN2B1 | c.2071C>A (p.Gln691Lys) c.2068C>A (p.Gln690Lys) n.2661C>A c.2074C>A (p.Gln692Lys) c.970C>A (p.Gln324Lys) | |
19 | g.12650199G>A | CA505771027 | MAN2B1 | c.2070C>T (p.His690=) c.2067C>T (p.His689=) n.2660C>T c.2073C>T (p.His691=) c.969C>T (p.His323=) | |
19 | g.12650199G>C | CA404243577 | MAN2B1 | c.2070C>G (p.His690Gln) c.2067C>G (p.His689Gln) n.2660C>G c.2073C>G (p.His691Gln) c.969C>G (p.His323Gln) | |
19 | g.12650199G>T | CA404243579 | MAN2B1 | c.2070C>A (p.His690Gln) c.2067C>A (p.His689Gln) n.2660C>A c.2073C>A (p.His691Gln) c.969C>A (p.His323Gln) | |
19 | g.12650200T>A | CA404243587 | MAN2B1 | c.2069A>T (p.His690Leu) c.2066A>T (p.His689Leu) n.2659A>T c.2072A>T (p.His691Leu) c.968A>T (p.His323Leu) | |
19 | g.12650200T>C | CA404243583 | MAN2B1 | c.2069A>G (p.His690Arg) c.2066A>G (p.His689Arg) n.2659A>G c.2072A>G (p.His691Arg) c.968A>G (p.His323Arg) | COSMIC |
19 | g.12650200T>G | CA404243585 | MAN2B1 | c.2069A>C (p.His690Pro) c.2066A>C (p.His689Pro) n.2659A>C c.2072A>C (p.His691Pro) c.968A>C (p.His323Pro) | |
19 | g.12650201G>A | CA404243591 | MAN2B1 | c.2068C>T (p.His690Tyr) c.2065C>T (p.His689Tyr) n.2658C>T c.2071C>T (p.His691Tyr) c.967C>T (p.His323Tyr) | |
19 | g.12650201G>C | CA404243593 | MAN2B1 | c.2068C>G (p.His690Asp) c.2065C>G (p.His689Asp) n.2658C>G c.2071C>G (p.His691Asp) c.967C>G (p.His323Asp) | |
19 | g.12650201G>T | CA404243594 | MAN2B1 | c.2068C>A (p.His690Asn) c.2065C>A (p.His689Asn) n.2658C>A c.2071C>A (p.His691Asn) c.967C>A (p.His323Asn) | |
19 | g.12650202C>A | CA505771028 | MAN2B1 | c.2067G>T (p.Val689=) c.2064G>T (p.Val688=) n.2657G>T c.2070G>T (p.Val690=) c.966G>T (p.Val322=) | |
19 | g.12650202C>G | CA505771029 | MAN2B1 | c.2067G>C (p.Val689=) c.2064G>C (p.Val688=) n.2657G>C c.2070G>C (p.Val690=) c.966G>C (p.Val322=) | |
19 | g.12650202C>T | CA505771030 | MAN2B1 | c.2067G>A (p.Val689=) c.2064G>A (p.Val688=) n.2657G>A c.2070G>A (p.Val690=) c.966G>A (p.Val322=) | |
19 | g.12650203A>C | CA404243597 | MAN2B1 | c.2066T>G (p.Val689Gly) c.2063T>G (p.Val688Gly) n.2656T>G c.2069T>G (p.Val690Gly) c.965T>G (p.Val322Gly) | |
19 | g.12650203A>G | CA404243599 | MAN2B1 | c.2066T>C (p.Val689Ala) c.2063T>C (p.Val688Ala) n.2656T>C c.2069T>C (p.Val690Ala) c.965T>C (p.Val322Ala) | |
19 | g.12650203A>T | CA404243600 | MAN2B1 | c.2066T>A (p.Val689Glu) c.2063T>A (p.Val688Glu) n.2656T>A c.2069T>A (p.Val690Glu) c.965T>A (p.Val322Glu) | gnomAD v4 |
19 | g.12650204C>A | CA404243603 | MAN2B1 | c.2065G>T (p.Val689Leu) c.2062G>T (p.Val688Leu) n.2655G>T c.2068G>T (p.Val690Leu) c.964G>T (p.Val322Leu) | gnomAD v4 |
19 | g.12650204C= | CA2323500126 | MAN2B1 | c.2065G= (p.Val689=) c.2062G= (p.Val688=) n.2655G= c.2068G= (p.Val690=) c.964G= (p.Val322=) | |
19 | g.12650204C>G | CA404243604 | MAN2B1 | c.2065G>C (p.Val689Leu) c.2062G>C (p.Val688Leu) n.2655G>C c.2068G>C (p.Val690Leu) c.964G>C (p.Val322Leu) | dbSNP gnomAD v4 |
19 | g.12650204C>T | CA9226205 | MAN2B1 | c.2065G>A (p.Val689Met) c.2062G>A (p.Val688Met) n.2655G>A c.2068G>A (p.Val690Met) c.964G>A (p.Val322Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12650204_12650208del | CA2582718691 | MAN2B1 | c.2061_2065del (p.Gln687HisfsTer?) c.2058_2062del (p.Gln686HisfsTer?) n.2651_2655del c.2064_2068del (p.Gln688HisfsTer?) c.960_964del (p.Gln320HisfsTer?) | gnomAD v4 |