Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.12665373C>A | CA404255988 | MAN2B1 | c.415G>T (p.Val139Leu) n.397G>T c.312G>T (p.Ser104=) n.353G>T c.406G>T (p.Val136Leu) c.442G>T (p.Val148Leu) n.456G>T c.-604G>T (n.-604G>T) | |
19 | g.12665373C= | CA2323507681 | MAN2B1 | c.415G= (p.Val139=) n.397G= c.312G= (p.Ser104=) n.353G= c.406G= (p.Val136=) c.442G= (p.Val148=) n.456G= c.-604G= (n.-604G=) | |
19 | g.12665373C>G | CA404255985 | MAN2B1 | c.415G>C (p.Val139Leu) n.397G>C c.312G>C (p.Ser104=) n.353G>C c.406G>C (p.Val136Leu) c.442G>C (p.Val148Leu) n.456G>C c.-604G>C (n.-604G>C) | gnomAD v4 |
19 | g.12665373C>T | CA9226823 | MAN2B1 | c.415G>A (p.Val139Met) n.397G>A c.312G>A (p.Ser104=) n.353G>A c.406G>A (p.Val136Met) c.442G>A (p.Val148Met) n.456G>A c.-604G>A (n.-604G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.12665374del | CA2580096478 | MAN2B1 | c.414del (p.Val139CysfsTer18) n.396del c.311del (p.Ser104CysfsTer?) n.352del c.405del (p.Val136CysfsTer18) c.441del (p.Val148CysfsTer18) n.455del c.-605del (n.-605del) | ClinVar |
19 | g.12665374G>A | CA404255994 | MAN2B1 | c.414C>T (p.Val138=) n.396C>T c.311C>T (p.Ser104Leu) n.352C>T c.405C>T (p.Val135=) c.441C>T (p.Val147=) n.455C>T c.-605C>T (n.-605C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12665374G>C | CA404255997 | MAN2B1 | c.414C>G (p.Val138=) n.396C>G c.311C>G (p.Ser104Trp) n.352C>G c.405C>G (p.Val135=) c.441C>G (p.Val147=) n.455C>G c.-605C>G (n.-605C>G) | |
19 | g.12665374G= | CA2323507682 | MAN2B1 | c.414C= (p.Val138=) n.396C= c.311C= (p.Ser104=) n.352C= c.405C= (p.Val135=) c.441C= (p.Val147=) n.455C= c.-605C= (n.-605C=) | |
19 | g.12665374G>T | CA404256001 | MAN2B1 | c.414C>A (p.Val138=) n.396C>A c.311C>A (p.Ser104Ter) n.352C>A c.405C>A (p.Val135=) c.441C>A (p.Val147=) n.455C>A c.-605C>A (n.-605C>A) | gnomAD v4 |
19 | g.12665375A>C | CA404256010 | MAN2B1 | c.413T>G (p.Val138Gly) n.395T>G c.310T>G (p.Ser104Ala) n.351T>G c.404T>G (p.Val135Gly) c.440T>G (p.Val147Gly) n.454T>G c.-606T>G (n.-606T>G) | |
19 | g.12665375A>G | CA404256013 | MAN2B1 | c.413T>C (p.Val138Ala) n.395T>C c.310T>C (p.Ser104Pro) n.351T>C c.404T>C (p.Val135Ala) c.440T>C (p.Val147Ala) n.454T>C c.-606T>C (n.-606T>C) | |
19 | g.12665375A>T | CA404256017 | MAN2B1 | c.413T>A (p.Val138Asp) n.395T>A c.310T>A (p.Ser104Thr) n.351T>A c.404T>A (p.Val135Asp) c.440T>A (p.Val147Asp) n.454T>A c.-606T>A (n.-606T>A) | |
19 | g.12665376C>A | CA404256023 | MAN2B1 | c.412G>T (p.Val138Phe) n.394G>T c.309G>T (p.Lys103Asn) n.350G>T c.403G>T (p.Val135Phe) c.439G>T (p.Val147Phe) n.453G>T c.-607G>T (n.-607G>T) | |
19 | g.12665376C= | CA2323507683 | MAN2B1 | c.412G= (p.Val138=) n.394G= c.309G= (p.Lys103=) n.350G= c.403G= (p.Val135=) c.439G= (p.Val147=) n.453G= c.-607G= (n.-607G=) | |
19 | g.12665376C>G | CA404256025 | MAN2B1 | c.412G>C (p.Val138Leu) n.394G>C c.309G>C (p.Lys103Asn) n.350G>C c.403G>C (p.Val135Leu) c.439G>C (p.Val147Leu) n.453G>C c.-607G>C (n.-607G>C) | |
19 | g.12665376C>T | CA404256027 | MAN2B1 | c.412G>A (p.Val138Ile) n.394G>A c.309G>A (p.Lys103=) n.350G>A c.403G>A (p.Val135Ile) c.439G>A (p.Val147Ile) n.453G>A c.-607G>A (n.-607G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12665377T>A | CA404256031 | MAN2B1 | c.411A>T (p.Glu137Asp) n.393A>T c.308A>T (p.Lys103Met) n.349A>T c.402A>T (p.Glu134Asp) c.438A>T (p.Glu146Asp) n.452A>T c.-608A>T (n.-608A>T) | dbSNP |
19 | g.12665377T>C | CA404256033 | MAN2B1 | c.411A>G (p.Glu137=) n.393A>G c.308A>G (p.Lys103Arg) n.349A>G c.402A>G (p.Glu134=) c.438A>G (p.Glu146=) n.452A>G c.-608A>G (n.-608A>G) | |
19 | g.12665377T>G | CA404256035 | MAN2B1 | c.411A>C (p.Glu137Asp) n.393A>C c.308A>C (p.Lys103Thr) n.349A>C c.402A>C (p.Glu134Asp) c.438A>C (p.Glu146Asp) n.452A>C c.-608A>C (n.-608A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12665377T= | CA2323507684 | MAN2B1 | c.411A= (p.Glu137=) n.393A= c.308A= (p.Lys103=) n.349A= c.402A= (p.Glu134=) c.438A= (p.Glu146=) n.452A= c.-608A= (n.-608A=) | |
19 | g.12665378T>A | CA404256040 | MAN2B1 | c.410A>T (p.Glu137Val) n.392A>T c.307A>T (p.Lys103Ter) n.348A>T c.401A>T (p.Glu134Val) c.437A>T (p.Glu146Val) n.451A>T c.-609A>T (n.-609A>T) | |
19 | g.12665378T>C | CA404256039 | MAN2B1 | c.410A>G (p.Glu137Gly) n.392A>G c.307A>G (p.Lys103Glu) n.348A>G c.401A>G (p.Glu134Gly) c.437A>G (p.Glu146Gly) n.451A>G c.-609A>G (n.-609A>G) | |
19 | g.12665378T>G | CA404256038 | MAN2B1 | c.410A>C (p.Glu137Ala) n.392A>C c.307A>C (p.Lys103Gln) n.348A>C c.401A>C (p.Glu134Ala) c.437A>C (p.Glu146Ala) n.451A>C c.-609A>C (n.-609A>C) | |
19 | g.12665379C>A | CA404256041 | MAN2B1 | c.409G>T (p.Glu137Ter) n.391G>T c.306G>T (p.Arg102Ser) n.347G>T c.400G>T (p.Glu134Ter) c.436G>T (p.Glu146Ter) n.450G>T c.-610G>T (n.-610G>T) | |
19 | g.12665379C= | CA2323507685 | MAN2B1 | c.409G= (p.Glu137=) n.391G= c.306G= (p.Arg102=) n.347G= c.400G= (p.Glu134=) c.436G= (p.Glu146=) n.450G= c.-610G= (n.-610G=) | |
19 | g.12665379C>G | CA9226824 | MAN2B1 | c.409G>C (p.Glu137Gln) n.391G>C c.306G>C (p.Arg102Ser) n.347G>C c.400G>C (p.Glu134Gln) c.436G>C (p.Glu146Gln) n.450G>C c.-610G>C (n.-610G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12665379C>T | CA404256043 | MAN2B1 | c.409G>A (p.Glu137Lys) n.391G>A c.306G>A (p.Arg102=) n.347G>A c.400G>A (p.Glu134Lys) c.436G>A (p.Glu146Lys) n.450G>A c.-610G>A (n.-610G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.12665380del | CA2582722639 | MAN2B1 | c.409del (p.Glu137LysfsTer20) n.391del c.306del (p.Lys103SerfsTer?) n.347del c.400del (p.Glu134LysfsTer20) c.436del (p.Glu146LysfsTer20) n.450del c.-610del (n.-610del) | gnomAD v4 |
19 | g.12665380C>A | CA404256046 | MAN2B1 | c.408G>T (p.Gln136His) n.390G>T c.305G>T (p.Arg102Met) n.346G>T c.399G>T (p.Gln133His) c.435G>T (p.Gln145His) n.449G>T c.-611G>T (n.-611G>T) | COSMIC |
19 | g.12665380C>G | CA404256050 | MAN2B1 | c.408G>C (p.Gln136His) n.390G>C c.305G>C (p.Arg102Thr) n.346G>C c.399G>C (p.Gln133His) c.435G>C (p.Gln145His) n.449G>C c.-611G>C (n.-611G>C) | |
19 | g.12665380C>T | CA404256054 | MAN2B1 | c.408G>A (p.Gln136=) n.390G>A c.305G>A (p.Arg102Lys) n.346G>A c.399G>A (p.Gln133=) c.435G>A (p.Gln145=) n.449G>A c.-611G>A (n.-611G>A) | gnomAD v4 |
19 | g.12665381T>A | CA404256057 | MAN2B1 | c.407A>T (p.Gln136Leu) n.389A>T c.304A>T (p.Arg102Trp) n.345A>T c.398A>T (p.Gln133Leu) c.434A>T (p.Gln145Leu) n.448A>T c.-612A>T (n.-612A>T) | |
19 | g.12665381T>C | CA9226825 | MAN2B1 | c.407A>G (p.Gln136Arg) n.389A>G c.304A>G (p.Arg102Gly) n.345A>G c.398A>G (p.Gln133Arg) c.434A>G (p.Gln145Arg) n.448A>G c.-612A>G (n.-612A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12665381T>G | CA404256060 | MAN2B1 | c.407A>C (p.Gln136Pro) n.389A>C c.304A>C (p.Arg102=) n.345A>C c.398A>C (p.Gln133Pro) c.434A>C (p.Gln145Pro) n.448A>C c.-612A>C (n.-612A>C) | dbSNP |
19 | g.12665381T= | CA2323507686 | MAN2B1 | c.407A= (p.Gln136=) n.389A= c.304A= (p.Arg102=) n.345A= c.398A= (p.Gln133=) c.434A= (p.Gln145=) n.448A= c.-612A= (n.-612A=) | |
19 | g.12665382G>A | CA404256067 | MAN2B1 | c.406C>T (p.Gln136Ter) n.388C>T c.303C>T (p.His101=) n.344C>T c.397C>T (p.Gln133Ter) c.433C>T (p.Gln145Ter) n.447C>T c.-613C>T (n.-613C>T) | ClinVar |
19 | g.12665382G>C | CA404256069 | MAN2B1 | c.406C>G (p.Gln136Glu) n.388C>G c.303C>G (p.His101Gln) n.344C>G c.397C>G (p.Gln133Glu) c.433C>G (p.Gln145Glu) n.447C>G c.-613C>G (n.-613C>G) | |
19 | g.12665382G>T | CA404256073 | MAN2B1 | c.406C>A (p.Gln136Lys) n.388C>A c.303C>A (p.His101Gln) n.344C>A c.397C>A (p.Gln133Lys) c.433C>A (p.Gln145Lys) n.447C>A c.-613C>A (n.-613C>A) | gnomAD v4 |
19 | g.12665383T>A | CA404256082 | MAN2B1 | c.405A>T (p.Thr135=) n.387A>T c.302A>T (p.His101Leu) n.343A>T c.396A>T (p.Thr132=) c.432A>T (p.Thr144=) n.446A>T c.-614A>T (n.-614A>T) | |
19 | g.12665383T>C | CA404256080 | MAN2B1 | c.405A>G (p.Thr135=) n.387A>G c.302A>G (p.His101Arg) n.343A>G c.396A>G (p.Thr132=) c.432A>G (p.Thr144=) n.446A>G c.-614A>G (n.-614A>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.12665383T>G | CA404256077 | MAN2B1 | c.405A>C (p.Thr135=) n.387A>C c.302A>C (p.His101Pro) n.343A>C c.396A>C (p.Thr132=) c.432A>C (p.Thr144=) n.446A>C c.-614A>C (n.-614A>C) | |
19 | g.12665383T= | CA2323507687 | MAN2B1 | c.405A= (p.Thr135=) n.387A= c.302A= (p.His101=) n.343A= c.396A= (p.Thr132=) c.432A= (p.Thr144=) n.446A= c.-614A= (n.-614A=) | |
19 | g.12665384G>A | CA404256086 | MAN2B1 | c.404C>T (p.Thr135Ile) n.386C>T c.301C>T (p.His101Tyr) n.342C>T c.395C>T (p.Thr132Ile) c.431C>T (p.Thr144Ile) n.445C>T c.-615C>T (n.-615C>T) | |
19 | g.12665384G>C | CA404256087 | MAN2B1 | c.404C>G (p.Thr135Arg) n.386C>G c.301C>G (p.His101Asp) n.342C>G c.395C>G (p.Thr132Arg) c.431C>G (p.Thr144Arg) n.445C>G c.-615C>G (n.-615C>G) | |
19 | g.12665384G>T | CA404256089 | MAN2B1 | c.404C>A (p.Thr135Lys) n.386C>A c.301C>A (p.His101Asn) n.342C>A c.395C>A (p.Thr132Lys) c.431C>A (p.Thr144Lys) n.445C>A c.-615C>A (n.-615C>A) | gnomAD v4 |
19 | g.12665385T>A | CA404256091 | MAN2B1 | c.403A>T (p.Thr135Ser) n.385A>T c.300A>T (p.Pro100=) n.341A>T c.394A>T (p.Thr132Ser) c.430A>T (p.Thr144Ser) n.444A>T c.-616A>T (n.-616A>T) | |
19 | g.12665385T>C | CA404256094 | MAN2B1 | c.403A>G (p.Thr135Ala) n.385A>G c.300A>G (p.Pro100=) n.341A>G c.394A>G (p.Thr132Ala) c.430A>G (p.Thr144Ala) n.444A>G c.-616A>G (n.-616A>G) | |
19 | g.12665385T>G | CA404256097 | MAN2B1 | c.403A>C (p.Thr135Pro) n.385A>C c.300A>C (p.Pro100=) n.341A>C c.394A>C (p.Thr132Pro) c.430A>C (p.Thr144Pro) n.444A>C c.-616A>C (n.-616A>C) | |
19 | g.12665386G>A | CA404256105 | MAN2B1 | c.402C>T (p.Ala134=) n.384C>T c.299C>T (p.Pro100Leu) n.340C>T c.393C>T (p.Ala131=) c.429C>T (p.Ala143=) n.443C>T c.-617C>T (n.-617C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12665386G>C | CA404256103 | MAN2B1 | c.402C>G (p.Ala134=) n.384C>G c.299C>G (p.Pro100Arg) n.340C>G c.393C>G (p.Ala131=) c.429C>G (p.Ala143=) n.443C>G c.-617C>G (n.-617C>G) | |
19 | g.12665386G= | CA2323507688 | MAN2B1 | c.402C= (p.Ala134=) n.384C= c.299C= (p.Pro100=) n.340C= c.393C= (p.Ala131=) c.429C= (p.Ala143=) n.443C= c.-617C= (n.-617C=) | |
19 | g.12665386G>T | CA404256101 | MAN2B1 | c.402C>A (p.Ala134=) n.384C>A c.299C>A (p.Pro100Gln) n.340C>A c.393C>A (p.Ala131=) c.429C>A (p.Ala143=) n.443C>A c.-617C>A (n.-617C>A) | COSMIC |
19 | g.12665387G>A | CA404256109 | MAN2B1 | c.401C>T (p.Ala134Val) n.383C>T c.298C>T (p.Pro100Ser) n.339C>T c.392C>T (p.Ala131Val) c.428C>T (p.Ala143Val) n.442C>T c.-618C>T (n.-618C>T) | |
19 | g.12665387G>C | CA404256110 | MAN2B1 | c.401C>G (p.Ala134Gly) n.383C>G c.298C>G (p.Pro100Ala) n.339C>G c.392C>G (p.Ala131Gly) c.428C>G (p.Ala143Gly) n.442C>G c.-618C>G (n.-618C>G) | |
19 | g.12665387G>T | CA404256111 | MAN2B1 | c.401C>A (p.Ala134Asp) n.383C>A c.298C>A (p.Pro100Thr) n.339C>A c.392C>A (p.Ala131Asp) c.428C>A (p.Ala143Asp) n.442C>A c.-618C>A (n.-618C>A) | |
19 | g.12665388C>A | CA404256113 | MAN2B1 | c.400G>T (p.Ala134Ser) n.382G>T c.297G>T (p.Met99Ile) n.338G>T c.391G>T (p.Ala131Ser) c.427G>T (p.Ala143Ser) n.441G>T c.-619G>T (n.-619G>T) | |
19 | g.12665388C>G | CA404256116 | MAN2B1 | c.400G>C (p.Ala134Pro) n.382G>C c.297G>C (p.Met99Ile) n.338G>C c.391G>C (p.Ala131Pro) c.427G>C (p.Ala143Pro) n.441G>C c.-619G>C (n.-619G>C) | |
19 | g.12665388C>T | CA404256117 | MAN2B1 | c.400G>A (p.Ala134Thr) n.382G>A c.297G>A (p.Met99Ile) n.338G>A c.391G>A (p.Ala131Thr) c.427G>A (p.Ala143Thr) n.441G>A c.-619G>A (n.-619G>A) | |
19 | g.12665389A= | CA2323507689 | MAN2B1 | c.399T= (p.Asn133=) n.381T= c.296T= (p.Met99=) n.337T= c.390T= (p.Asn130=) c.426T= (p.Asn142=) n.440T= c.-620T= (n.-620T=) | |
19 | g.12665389A>C | CA404256121 | MAN2B1 | c.399T>G (p.Asn133Lys) n.381T>G c.296T>G (p.Met99Arg) n.337T>G c.390T>G (p.Asn130Lys) c.426T>G (p.Asn142Lys) n.440T>G c.-620T>G (n.-620T>G) | |
19 | g.12665389A>G | CA404256127 | MAN2B1 | c.399T>C (p.Asn133=) n.381T>C c.296T>C (p.Met99Thr) n.337T>C c.390T>C (p.Asn130=) c.426T>C (p.Asn142=) n.440T>C c.-620T>C (n.-620T>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.12665389A>T | CA404256124 | MAN2B1 | c.399T>A (p.Asn133Lys) n.381T>A c.296T>A (p.Met99Lys) n.337T>A c.390T>A (p.Asn130Lys) c.426T>A (p.Asn142Lys) n.440T>A c.-620T>A (n.-620T>A) | |
19 | g.12665390T>A | CA404256130 | MAN2B1 | c.398A>T (p.Asn133Ile) n.380A>T c.295A>T (p.Met99Leu) n.336A>T c.389A>T (p.Asn130Ile) c.425A>T (p.Asn142Ile) n.439A>T c.-621A>T (n.-621A>T) | |
19 | g.12665390T>C | CA404256132 | MAN2B1 | c.398A>G (p.Asn133Ser) n.380A>G c.295A>G (p.Met99Val) n.336A>G c.389A>G (p.Asn130Ser) c.425A>G (p.Asn142Ser) n.439A>G c.-621A>G (n.-621A>G) | |
19 | g.12665390T>G | CA404256135 | MAN2B1 | c.398A>C (p.Asn133Thr) n.380A>C c.295A>C (p.Met99Leu) n.336A>C c.389A>C (p.Asn130Thr) c.425A>C (p.Asn142Thr) n.439A>C c.-621A>C (n.-621A>C) | |
19 | g.12665392del | CA2582722640 | MAN2B1 | c.398del (p.Asn133MetfsTer24) n.380del c.295del (p.Met99CysfsTer?) n.336del c.389del (p.Asn130MetfsTer24) c.425del (p.Asn142MetfsTer24) n.439del c.-621del (n.-621del) | gnomAD v4 |
19 | g.12665391T>A | CA404256137 | MAN2B1 | c.397A>T (p.Asn133Tyr) n.379A>T c.294A>T (p.Gln98His) n.335A>T c.388A>T (p.Asn130Tyr) c.424A>T (p.Asn142Tyr) n.438A>T c.-622A>T (n.-622A>T) | |
19 | g.12665391T>C | CA9226826 | MAN2B1 | c.397A>G (p.Asn133Asp) n.379A>G c.294A>G (p.Gln98=) n.335A>G c.388A>G (p.Asn130Asp) c.424A>G (p.Asn142Asp) n.438A>G c.-622A>G (n.-622A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12665391T>G | CA404256144 | MAN2B1 | c.397A>C (p.Asn133His) n.379A>C c.294A>C (p.Gln98His) n.335A>C c.388A>C (p.Asn130His) c.424A>C (p.Asn142His) n.438A>C c.-622A>C (n.-622A>C) | |
19 | g.12665391T= | CA2323507690 | MAN2B1 | c.397A= (p.Asn133=) n.379A= c.294A= (p.Gln98=) n.335A= c.388A= (p.Asn130=) c.424A= (p.Asn142=) n.438A= c.-622A= (n.-622A=) | |
19 | g.12665392T>A | CA404256156 | MAN2B1 | c.396A>T (p.Thr132=) n.378A>T c.293A>T (p.Gln98Leu) n.334A>T c.387A>T (p.Thr129=) c.423A>T (p.Thr141=) n.437A>T c.-623A>T (n.-623A>T) | |
19 | g.12665392T>C | CA404256158 | MAN2B1 | c.396A>G (p.Thr132=) n.378A>G c.293A>G (p.Gln98Arg) n.334A>G c.387A>G (p.Thr129=) c.423A>G (p.Thr141=) n.437A>G c.-623A>G (n.-623A>G) | |
19 | g.12665392T>G | CA404256160 | MAN2B1 | c.396A>C (p.Thr132=) n.378A>C c.293A>C (p.Gln98Pro) n.334A>C c.387A>C (p.Thr129=) c.423A>C (p.Thr141=) n.437A>C c.-623A>C (n.-623A>C) | |
19 | g.12665393G>A | CA404256163 | MAN2B1 | c.395C>T (p.Thr132Ile) n.377C>T c.292C>T (p.Gln98Ter) n.333C>T c.386C>T (p.Thr129Ile) c.422C>T (p.Thr141Ile) n.436C>T c.-624C>T (n.-624C>T) | COSMIC |
19 | g.12665393G>C | CA404256166 | MAN2B1 | c.395C>G (p.Thr132Arg) n.377C>G c.292C>G (p.Gln98Glu) n.333C>G c.386C>G (p.Thr129Arg) c.422C>G (p.Thr141Arg) n.436C>G c.-624C>G (n.-624C>G) | |
19 | g.12665393G>T | CA404256171 | MAN2B1 | c.395C>A (p.Thr132Lys) n.377C>A c.292C>A (p.Gln98Lys) n.333C>A c.386C>A (p.Thr129Lys) c.422C>A (p.Thr141Lys) n.436C>A c.-624C>A (n.-624C>A) | gnomAD v4 |
19 | g.12665394T>A | CA404256174 | MAN2B1 | c.394A>T (p.Thr132Ser) n.376A>T c.291A>T (p.Arg97Ser) n.332A>T c.385A>T (p.Thr129Ser) c.421A>T (p.Thr141Ser) n.435A>T c.-625A>T (n.-625A>T) | |
19 | g.12665394T>C | CA404256178 | MAN2B1 | c.394A>G (p.Thr132Ala) n.376A>G c.291A>G (p.Arg97=) n.332A>G c.385A>G (p.Thr129Ala) c.421A>G (p.Thr141Ala) n.435A>G c.-625A>G (n.-625A>G) | |
19 | g.12665394T>G | CA404256175 | MAN2B1 | c.394A>C (p.Thr132Pro) n.376A>C c.291A>C (p.Arg97Ser) n.332A>C c.385A>C (p.Thr129Pro) c.421A>C (p.Thr141Pro) n.435A>C c.-625A>C (n.-625A>C) | |
19 | g.12665395C>A | CA404256181 | MAN2B1 | c.393G>T (p.Gln131His) n.375G>T c.290G>T (p.Arg97Ile) n.331G>T c.384G>T (p.Gln128His) c.420G>T (p.Gln140His) n.434G>T c.-626G>T (n.-626G>T) | |
19 | g.12665395C= | CA2323507691 | MAN2B1 | c.393G= (p.Gln131=) n.375G= c.290G= (p.Arg97=) n.331G= c.384G= (p.Gln128=) c.420G= (p.Gln140=) n.434G= c.-626G= (n.-626G=) | |
19 | g.12665395C>G | CA404256186 | MAN2B1 | c.393G>C (p.Gln131His) n.375G>C c.290G>C (p.Arg97Thr) n.331G>C c.384G>C (p.Gln128His) c.420G>C (p.Gln140His) n.434G>C c.-626G>C (n.-626G>C) | |
19 | g.12665395C>T | CA9226827 | MAN2B1 | c.393G>A (p.Gln131=) n.375G>A c.290G>A (p.Arg97Lys) n.331G>A c.384G>A (p.Gln128=) c.420G>A (p.Gln140=) n.434G>A c.-626G>A (n.-626G>A) | dbSNP ExAC gnomAD v2 |
19 | g.12665396T>A | CA404256189 | MAN2B1 | c.392A>T (p.Gln131Leu) n.374A>T c.289A>T (p.Arg97Ter) n.330A>T c.383A>T (p.Gln128Leu) c.419A>T (p.Gln140Leu) n.433A>T c.-627A>T (n.-627A>T) | |
19 | g.12665396T>C | CA404256191 | MAN2B1 | c.392A>G (p.Gln131Arg) n.374A>G c.289A>G (p.Arg97Gly) n.330A>G c.383A>G (p.Gln128Arg) c.419A>G (p.Gln140Arg) n.433A>G c.-627A>G (n.-627A>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12665396T>G | CA404256194 | MAN2B1 | c.392A>C (p.Gln131Pro) n.374A>C c.289A>C (p.Arg97=) n.330A>C c.383A>C (p.Gln128Pro) c.419A>C (p.Gln140Pro) n.433A>C c.-627A>C (n.-627A>C) | |
19 | g.12665396T= | CA2323507692 | MAN2B1 | c.392A= (p.Gln131=) n.374A= c.289A= (p.Arg97=) n.330A= c.383A= (p.Gln128=) c.419A= (p.Gln140=) n.433A= c.-627A= (n.-627A=) | |
19 | g.12665397G>A | CA404256197 | MAN2B1 | c.391C>T (p.Gln131Ter) n.373C>T c.288C>T (p.Ser96=) n.329C>T c.382C>T (p.Gln128Ter) c.418C>T (p.Gln140Ter) n.432C>T c.-628C>T (n.-628C>T) | |
19 | g.12665397G>C | CA404256199 | MAN2B1 | c.391C>G (p.Gln131Glu) n.373C>G c.288C>G (p.Ser96Arg) n.329C>G c.382C>G (p.Gln128Glu) c.418C>G (p.Gln140Glu) n.432C>G c.-628C>G (n.-628C>G) | |
19 | g.12665397G>T | CA404256202 | MAN2B1 | c.391C>A (p.Gln131Lys) n.373C>A c.288C>A (p.Ser96Arg) n.329C>A c.382C>A (p.Gln128Lys) c.418C>A (p.Gln140Lys) n.432C>A c.-628C>A (n.-628C>A) | gnomAD v4 |
19 | g.12665398C>A | CA404256207 | MAN2B1 | c.390G>T (p.Gln130His) n.372G>T c.287G>T (p.Ser96Ile) n.328G>T c.381G>T (p.Gln127His) c.417G>T (p.Gln139His) n.431G>T c.-629G>T (n.-629G>T) | |
19 | g.12665398C>G | CA404256208 | MAN2B1 | c.390G>C (p.Gln130His) n.372G>C c.287G>C (p.Ser96Thr) n.328G>C c.381G>C (p.Gln127His) c.417G>C (p.Gln139His) n.431G>C c.-629G>C (n.-629G>C) | |
19 | g.12665398C>T | CA404256212 | MAN2B1 | c.390G>A (p.Gln130=) n.372G>A c.287G>A (p.Ser96Asn) n.328G>A c.381G>A (p.Gln127=) c.417G>A (p.Gln139=) n.431G>A c.-629G>A (n.-629G>A) | |
19 | g.12665399T>A | CA404256220 | MAN2B1 | c.389A>T (p.Gln130Leu) n.371A>T c.286A>T (p.Ser96Cys) n.327A>T c.380A>T (p.Gln127Leu) c.416A>T (p.Gln139Leu) n.430A>T c.-630A>T (n.-630A>T) | |
19 | g.12665399T>C | CA404256219 | MAN2B1 | c.389A>G (p.Gln130Arg) n.371A>G c.286A>G (p.Ser96Gly) n.327A>G c.380A>G (p.Gln127Arg) c.416A>G (p.Gln139Arg) n.430A>G c.-630A>G (n.-630A>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.12665399T>G | CA404256215 | MAN2B1 | c.389A>C (p.Gln130Pro) n.371A>C c.286A>C (p.Ser96Arg) n.327A>C c.380A>C (p.Gln127Pro) c.416A>C (p.Gln139Pro) n.430A>C c.-630A>C (n.-630A>C) | dbSNP |
19 | g.12665399T= | CA2323507693 | MAN2B1 | c.389A= (p.Gln130=) n.371A= c.286A= (p.Ser96=) n.327A= c.380A= (p.Gln127=) c.416A= (p.Gln139=) n.430A= c.-630A= (n.-630A=) | |
19 | g.12665400G>A | CA404256222 | MAN2B1 | c.388C>T (p.Gln130Ter) n.370C>T c.285C>T (p.Thr95=) n.326C>T c.379C>T (p.Gln127Ter) c.415C>T (p.Gln139Ter) n.429C>T c.-631C>T (n.-631C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.12665400G>C | CA404256224 | MAN2B1 | c.388C>G (p.Gln130Glu) n.370C>G c.285C>G (p.Thr95=) n.326C>G c.379C>G (p.Gln127Glu) c.415C>G (p.Gln139Glu) n.429C>G c.-631C>G (n.-631C>G) | |
19 | g.12665400G= | CA2323507694 | MAN2B1 | c.388C= (p.Gln130=) n.370C= c.285C= (p.Thr95=) n.326C= c.379C= (p.Gln127=) c.415C= (p.Gln139=) n.429C= c.-631C= (n.-631C=) | |
19 | g.12665400G>T | CA404256225 | MAN2B1 | c.388C>A (p.Gln130Lys) n.370C>A c.285C>A (p.Thr95=) n.326C>A c.379C>A (p.Gln127Lys) c.415C>A (p.Gln139Lys) n.429C>A c.-631C>A (n.-631C>A) | |
19 | g.12665401G>A | CA404256227 | MAN2B1 | c.387C>T (p.His129=) n.369C>T c.284C>T (p.Thr95Ile) n.325C>T c.378C>T (p.His126=) c.414C>T (p.His138=) n.428C>T c.-632C>T (n.-632C>T) | ClinVar |
19 | g.12665401G>C | CA404256230 | MAN2B1 | c.387C>G (p.His129Gln) n.369C>G c.284C>G (p.Thr95Ser) n.325C>G c.378C>G (p.His126Gln) c.414C>G (p.His138Gln) n.428C>G c.-632C>G (n.-632C>G) | |
19 | g.12665401G>T | CA404256231 | MAN2B1 | c.387C>A (p.His129Gln) n.369C>A c.284C>A (p.Thr95Asn) n.325C>A c.378C>A (p.His126Gln) c.414C>A (p.His138Gln) n.428C>A c.-632C>A (n.-632C>A) | |
19 | g.12665402T>A | CA404256234 | MAN2B1 | c.386A>T (p.His129Leu) n.368A>T c.283A>T (p.Thr95Ser) n.324A>T c.377A>T (p.His126Leu) c.413A>T (p.His138Leu) n.427A>T c.-633A>T (n.-633A>T) | |
19 | g.12665402T>C | CA404256237 | MAN2B1 | c.386A>G (p.His129Arg) n.368A>G c.283A>G (p.Thr95Ala) n.324A>G c.377A>G (p.His126Arg) c.413A>G (p.His138Arg) n.427A>G c.-633A>G (n.-633A>G) | |
19 | g.12665402T>G | CA404256239 | MAN2B1 | c.386A>C (p.His129Pro) n.368A>C c.283A>C (p.Thr95Pro) n.324A>C c.377A>C (p.His126Pro) c.413A>C (p.His138Pro) n.427A>C c.-633A>C (n.-633A>C) | |
19 | g.12665403G>A | CA404256240 | MAN2B1 | c.385C>T (p.His129Tyr) n.367C>T c.282C>T (p.Gly94=) n.323C>T c.376C>T (p.His126Tyr) c.412C>T (p.His138Tyr) n.426C>T c.-634C>T (n.-634C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12665403G>C | CA404256242 | MAN2B1 | c.385C>G (p.His129Asp) n.367C>G c.282C>G (p.Gly94=) n.323C>G c.376C>G (p.His126Asp) c.412C>G (p.His138Asp) n.426C>G c.-634C>G (n.-634C>G) | |
19 | g.12665403G= | CA2323507695 | MAN2B1 | c.385C= (p.His129=) n.367C= c.282C= (p.Gly94=) n.323C= c.376C= (p.His126=) c.412C= (p.His138=) n.426C= c.-634C= (n.-634C=) | |
19 | g.12665403G>T | CA404256249 | MAN2B1 | c.385C>A (p.His129Asn) n.367C>A c.282C>A (p.Gly94=) n.323C>A c.376C>A (p.His126Asn) c.412C>A (p.His138Asn) n.426C>A c.-634C>A (n.-634C>A) | |
19 | g.12665404C>A | CA404256260 | MAN2B1 | c.384G>T (p.Trp128Cys) n.366G>T c.281G>T (p.Gly94Val) n.322G>T c.375G>T (p.Trp125Cys) c.411G>T (p.Trp137Cys) n.425G>T c.-635G>T (n.-635G>T) | |
19 | g.12665404C= | CA2323507696 | MAN2B1 | c.384G= (p.Trp128=) n.366G= c.281G= (p.Gly94=) n.322G= c.375G= (p.Trp125=) c.411G= (p.Trp137=) n.425G= c.-635G= (n.-635G=) | |
19 | g.12665404C>G | CA404256268 | MAN2B1 | c.384G>C (p.Trp128Cys) n.366G>C c.281G>C (p.Gly94Ala) n.322G>C c.375G>C (p.Trp125Cys) c.411G>C (p.Trp137Cys) n.425G>C c.-635G>C (n.-635G>C) | |
19 | g.12665404C>T | CA404256264 | MAN2B1 | c.384G>A (p.Trp128Ter) n.366G>A c.281G>A (p.Gly94Asp) n.322G>A c.375G>A (p.Trp125Ter) c.411G>A (p.Trp137Ter) n.425G>A c.-635G>A (n.-635G>A) | ClinVar dbSNP gnomAD v4 |
19 | g.12665405C>A | CA404256275 | MAN2B1 | c.383G>T (p.Trp128Leu) n.365G>T c.280G>T (p.Gly94Cys) n.321G>T c.374G>T (p.Trp125Leu) c.410G>T (p.Trp137Leu) n.424G>T c.-636G>T (n.-636G>T) | |
19 | g.12665405C>G | CA404256282 | MAN2B1 | c.383G>C (p.Trp128Ser) n.365G>C c.280G>C (p.Gly94Arg) n.321G>C c.374G>C (p.Trp125Ser) c.410G>C (p.Trp137Ser) n.424G>C c.-636G>C (n.-636G>C) | |
19 | g.12665405C>T | CA404256278 | MAN2B1 | c.383G>A (p.Trp128Ter) n.365G>A c.280G>A (p.Gly94Ser) n.321G>A c.374G>A (p.Trp125Ter) c.410G>A (p.Trp137Ter) n.424G>A c.-636G>A (n.-636G>A) | |
19 | g.12665406A>C | CA404256287 | MAN2B1 | c.382T>G (p.Trp128Gly) n.364T>G c.279T>G (p.Gly93=) n.320T>G c.373T>G (p.Trp125Gly) c.409T>G (p.Trp137Gly) n.423T>G c.-637T>G (n.-637T>G) | |
19 | g.12665406A>G | CA404256290 | MAN2B1 | c.382T>C (p.Trp128Arg) n.364T>C c.279T>C (p.Gly93=) n.320T>C c.373T>C (p.Trp125Arg) c.409T>C (p.Trp137Arg) n.423T>C c.-637T>C (n.-637T>C) | |
19 | g.12665406A>T | CA404256300 | MAN2B1 | c.382T>A (p.Trp128Arg) n.364T>A c.279T>A (p.Gly93=) n.320T>A c.373T>A (p.Trp125Arg) c.409T>A (p.Trp137Arg) n.423T>A c.-637T>A (n.-637T>A) | |
19 | g.12665407C>A | CA404256307 | MAN2B1 | c.381G>T (p.Trp127Cys) n.363G>T c.278G>T (p.Gly93Val) n.319G>T c.372G>T (p.Trp124Cys) c.408G>T (p.Trp136Cys) n.422G>T c.-638G>T (n.-638G>T) | |
19 | g.12665407C>G | CA404256309 | MAN2B1 | c.381G>C (p.Trp127Cys) n.363G>C c.278G>C (p.Gly93Ala) n.319G>C c.372G>C (p.Trp124Cys) c.408G>C (p.Trp136Cys) n.422G>C c.-638G>C (n.-638G>C) | |
19 | g.12665407C>T | CA404256313 | MAN2B1 | c.381G>A (p.Trp127Ter) n.363G>A c.278G>A (p.Gly93Asp) n.319G>A c.372G>A (p.Trp124Ter) c.408G>A (p.Trp136Ter) n.422G>A c.-638G>A (n.-638G>A) | |
19 | g.12665408del | CA2842057752 | MAN2B1 | c.381del (p.Trp127CysfsTer30) n.363del c.278del (p.Gly93ValfsTer?) n.319del c.372del (p.Trp124CysfsTer30) c.408del (p.Trp136CysfsTer30) n.422del c.-638del (n.-638del) | |
19 | g.12665408C>A | CA404256328 | MAN2B1 | c.380G>T (p.Trp127Leu) n.362G>T c.277G>T (p.Gly93Cys) n.318G>T c.371G>T (p.Trp124Leu) c.407G>T (p.Trp136Leu) n.421G>T c.-639G>T (n.-639G>T) | |
19 | g.12665408C>G | CA404256324 | MAN2B1 | c.380G>C (p.Trp127Ser) n.362G>C c.277G>C (p.Gly93Arg) n.318G>C c.371G>C (p.Trp124Ser) c.407G>C (p.Trp136Ser) n.421G>C c.-639G>C (n.-639G>C) | |
19 | g.12665408C>T | CA404256321 | MAN2B1 | c.380G>A (p.Trp127Ter) n.362G>A c.277G>A (p.Gly93Ser) n.318G>A c.371G>A (p.Trp124Ter) c.407G>A (p.Trp136Ter) n.421G>A c.-639G>A (n.-639G>A) | |
19 | g.12665409A>C | CA404256331 | MAN2B1 | c.379T>G (p.Trp127Gly) n.361T>G c.276T>G (p.Val92=) n.317T>G c.370T>G (p.Trp124Gly) c.406T>G (p.Trp136Gly) n.420T>G c.-640T>G (n.-640T>G) | |
19 | g.12665409A>G | CA404256333 | MAN2B1 | c.379T>C (p.Trp127Arg) n.361T>C c.276T>C (p.Val92=) n.317T>C c.370T>C (p.Trp124Arg) c.406T>C (p.Trp136Arg) n.420T>C c.-640T>C (n.-640T>C) | |
19 | g.12665409A>T | CA404256336 | MAN2B1 | c.379T>A (p.Trp127Arg) n.361T>A c.276T>A (p.Val92=) n.317T>A c.370T>A (p.Trp124Arg) c.406T>A (p.Trp136Arg) n.420T>A c.-640T>A (n.-640T>A) | |
19 | g.12665410A>C | CA404256338 | MAN2B1 | c.378T>G (p.Arg126=) n.360T>G c.275T>G (p.Val92Gly) n.316T>G c.369T>G (p.Arg123=) c.405T>G (p.Arg135=) n.419T>G c.-641T>G (n.-641T>G) | |
19 | g.12665410A>G | CA404256343 | MAN2B1 | c.378T>C (p.Arg126=) n.360T>C c.275T>C (p.Val92Ala) n.316T>C c.369T>C (p.Arg123=) c.405T>C (p.Arg135=) n.419T>C c.-641T>C (n.-641T>C) | |
19 | g.12665410A>T | CA404256344 | MAN2B1 | c.378T>A (p.Arg126=) n.360T>A c.275T>A (p.Val92Asp) n.316T>A c.369T>A (p.Arg123=) c.405T>A (p.Arg135=) n.419T>A c.-641T>A (n.-641T>A) | |
19 | g.12665411C>A | CA9226828 | MAN2B1 | c.377G>T (p.Arg126Leu) n.359G>T c.274G>T (p.Val92Phe) n.315G>T c.368G>T (p.Arg123Leu) c.404G>T (p.Arg135Leu) n.418G>T c.-642G>T (n.-642G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12665411C= | CA2323507697 | MAN2B1 | c.377G= (p.Arg126=) n.359G= c.274G= (p.Val92=) n.315G= c.368G= (p.Arg123=) c.404G= (p.Arg135=) n.418G= c.-642G= (n.-642G=) | |
19 | g.12665411C>G | CA404256347 | MAN2B1 | c.377G>C (p.Arg126Pro) n.359G>C c.274G>C (p.Val92Leu) n.315G>C c.368G>C (p.Arg123Pro) c.404G>C (p.Arg135Pro) n.418G>C c.-642G>C (n.-642G>C) | |
19 | g.12665411C>T | CA9226829 | MAN2B1 | c.377G>A (p.Arg126His) n.359G>A c.274G>A (p.Val92Ile) n.315G>A c.368G>A (p.Arg123His) c.404G>A (p.Arg135His) n.418G>A c.-642G>A (n.-642G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12665412G>A | CA9226830 | MAN2B1 | c.376C>T (p.Arg126Cys) n.358C>T c.273C>T (p.Pro91=) n.314C>T c.367C>T (p.Arg123Cys) c.403C>T (p.Arg135Cys) n.417C>T c.-643C>T (n.-643C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12665412G>C | CA404256359 | MAN2B1 | c.376C>G (p.Arg126Gly) n.358C>G c.273C>G (p.Pro91=) n.314C>G c.367C>G (p.Arg123Gly) c.403C>G (p.Arg135Gly) n.417C>G c.-643C>G (n.-643C>G) | |
19 | g.12665412G= | CA2323507698 | MAN2B1 | c.376C= (p.Arg126=) n.358C= c.273C= (p.Pro91=) n.314C= c.367C= (p.Arg123=) c.403C= (p.Arg135=) n.417C= c.-643C= (n.-643C=) | |
19 | g.12665412G>T | CA404256361 | MAN2B1 | c.376C>A (p.Arg126Ser) n.358C>A c.273C>A (p.Pro91=) n.314C>A c.367C>A (p.Arg123Ser) c.403C>A (p.Arg135Ser) n.417C>A c.-643C>A (n.-643C>A) | |
19 | g.12665413G>A | CA404256368 | MAN2B1 | c.375C>T (p.Ser125=) n.357C>T c.272C>T (p.Pro91Leu) n.313C>T c.366C>T (p.Ser122=) c.402C>T (p.Ser134=) n.416C>T c.-644C>T (n.-644C>T) | |
19 | g.12665413G>C | CA404256371 | MAN2B1 | c.375C>G (p.Ser125=) n.357C>G c.272C>G (p.Pro91Arg) n.313C>G c.366C>G (p.Ser122=) c.402C>G (p.Ser134=) n.416C>G c.-644C>G (n.-644C>G) | |
19 | g.12665413G= | CA2323507699 | MAN2B1 | c.375C= (p.Ser125=) n.357C= c.272C= (p.Pro91=) n.313C= c.366C= (p.Ser122=) c.402C= (p.Ser134=) n.416C= c.-644C= (n.-644C=) | |
19 | g.12665413G>T | CA404256372 | MAN2B1 | c.375C>A (p.Ser125=) n.357C>A c.272C>A (p.Pro91His) n.313C>A c.366C>A (p.Ser122=) c.402C>A (p.Ser134=) n.416C>A c.-644C>A (n.-644C>A) | dbSNP |
19 | g.12665414G>A | CA404256377 | MAN2B1 | c.374C>T (p.Ser125Phe) n.356C>T c.271C>T (p.Pro91Ser) n.312C>T c.365C>T (p.Ser122Phe) c.401C>T (p.Ser134Phe) n.415C>T c.-645C>T (n.-645C>T) | |
19 | g.12665414G>C | CA404256379 | MAN2B1 | c.374C>G (p.Ser125Cys) n.356C>G c.271C>G (p.Pro91Ala) n.312C>G c.365C>G (p.Ser122Cys) c.401C>G (p.Ser134Cys) n.415C>G c.-645C>G (n.-645C>G) | |
19 | g.12665414G>T | CA404256382 | MAN2B1 | c.374C>A (p.Ser125Tyr) n.356C>A c.271C>A (p.Pro91Thr) n.312C>A c.365C>A (p.Ser122Tyr) c.401C>A (p.Ser134Tyr) n.415C>A c.-645C>A (n.-645C>A) | |
19 | g.12665414_12665417delinsGAGA | CA2323507700 | MAN2B1 | c.371_374delinsTCTC (p.Phe124=) n.353_356delinsTCTC c.268_271delinsTCTC (p.Ser90=) n.309_312delinsTCTC c.362_365delinsTCTC (p.Phe121=) c.398_401delinsTCTC (p.Phe133=) n.412_415delinsTCTC c.-648_-645delinsTCTC (n.-648_-645delinsTCTC) | |
19 | g.12665415A= | CA2323507701 | MAN2B1 | c.373T= (p.Ser125=) n.355T= c.270T= (p.Ser90=) n.311T= c.364T= (p.Ser122=) c.400T= (p.Ser134=) n.414T= c.-646T= (n.-646T=) | |
19 | g.12665415A>C | CA404256386 | MAN2B1 | c.373T>G (p.Ser125Ala) n.355T>G c.270T>G (p.Ser90=) n.311T>G c.364T>G (p.Ser122Ala) c.400T>G (p.Ser134Ala) n.414T>G c.-646T>G (n.-646T>G) | |
19 | g.12665415A>G | CA404256392 | MAN2B1 | c.373T>C (p.Ser125Pro) n.355T>C c.270T>C (p.Ser90=) n.311T>C c.364T>C (p.Ser122Pro) c.400T>C (p.Ser134Pro) n.414T>C c.-646T>C (n.-646T>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12665415A>T | CA404256398 | MAN2B1 | c.373T>A (p.Ser125Thr) n.355T>A c.270T>A (p.Ser90=) n.311T>A c.364T>A (p.Ser122Thr) c.400T>A (p.Ser134Thr) n.414T>A c.-646T>A (n.-646T>A) | |
19 | g.12665420_12665422del | CA221087 | MAN2B1 | c.371_373del (p.Phe124del) n.353_355del c.268_270del (p.Ser90del) n.309_311del c.362_364del (p.Phe121del) c.398_400del (p.Phe133del) n.412_414del c.-648_-646del (n.-648_-646del) | ClinVar dbSNP |
19 | g.12665416G>A | CA404256403 | MAN2B1 | c.372C>T (p.Phe124=) n.354C>T c.269C>T (p.Ser90Phe) n.310C>T c.363C>T (p.Phe121=) c.399C>T (p.Phe133=) n.413C>T c.-647C>T (n.-647C>T) | |
19 | g.12665416G>C | CA404256424 | MAN2B1 | c.372C>G (p.Phe124Leu) n.354C>G c.269C>G (p.Ser90Cys) n.310C>G c.363C>G (p.Phe121Leu) c.399C>G (p.Phe133Leu) n.413C>G c.-647C>G (n.-647C>G) | |
19 | g.12665416G>T | CA404256421 | MAN2B1 | c.372C>A (p.Phe124Leu) n.354C>A c.269C>A (p.Ser90Tyr) n.310C>A c.363C>A (p.Phe121Leu) c.399C>A (p.Phe133Leu) n.413C>A c.-647C>A (n.-647C>A) | |
19 | g.12665417A= | CA2323507702 | MAN2B1 | c.371T= (p.Phe124=) n.353T= c.268T= (p.Ser90=) n.309T= c.362T= (p.Phe121=) c.398T= (p.Phe133=) n.412T= c.-648T= (n.-648T=) | |
19 | g.12665417A>C | CA404256433 | MAN2B1 | c.371T>G (p.Phe124Cys) n.353T>G c.268T>G (p.Ser90Ala) n.309T>G c.362T>G (p.Phe121Cys) c.398T>G (p.Phe133Cys) n.412T>G c.-648T>G (n.-648T>G) | gnomAD v4 |
19 | g.12665417A>G | CA9226831 | MAN2B1 | c.371T>C (p.Phe124Ser) n.353T>C c.268T>C (p.Ser90Pro) n.309T>C c.362T>C (p.Phe121Ser) c.398T>C (p.Phe133Ser) n.412T>C c.-648T>C (n.-648T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12665417A>T | CA404256436 | MAN2B1 | c.371T>A (p.Phe124Tyr) n.353T>A c.268T>A (p.Ser90Thr) n.309T>A c.362T>A (p.Phe121Tyr) c.398T>A (p.Phe133Tyr) n.412T>A c.-648T>A (n.-648T>A) | |
19 | g.12665418A>C | CA404256437 | MAN2B1 | c.370T>G (p.Phe124Val) n.352T>G c.267T>G (p.Ser89=) n.308T>G c.361T>G (p.Phe121Val) c.397T>G (p.Phe133Val) n.411T>G c.-649T>G (n.-649T>G) | |
19 | g.12665418A>G | CA404256439 | MAN2B1 | c.370T>C (p.Phe124Leu) n.352T>C c.267T>C (p.Ser89=) n.308T>C c.361T>C (p.Phe121Leu) c.397T>C (p.Phe133Leu) n.411T>C c.-649T>C (n.-649T>C) | |
19 | g.12665418A>T | CA404256441 | MAN2B1 | c.370T>A (p.Phe124Ile) n.352T>A c.267T>A (p.Ser89=) n.308T>A c.361T>A (p.Phe121Ile) c.397T>A (p.Phe133Ile) n.411T>A c.-649T>A (n.-649T>A) | |
19 | g.12665419G>A | CA404256455 | MAN2B1 | c.369C>T (p.Phe123=) n.351C>T c.266C>T (p.Ser89Phe) n.307C>T c.360C>T (p.Phe120=) c.396C>T (p.Phe132=) n.410C>T c.-650C>T (n.-650C>T) | gnomAD v4 |
19 | g.12665419G>C | CA404256459 | MAN2B1 | c.369C>G (p.Phe123Leu) n.351C>G c.266C>G (p.Ser89Cys) n.307C>G c.360C>G (p.Phe120Leu) c.396C>G (p.Phe132Leu) n.410C>G c.-650C>G (n.-650C>G) | |
19 | g.12665419G>T | CA404256461 | MAN2B1 | c.369C>A (p.Phe123Leu) n.351C>A c.266C>A (p.Ser89Tyr) n.307C>A c.360C>A (p.Phe120Leu) c.396C>A (p.Phe132Leu) n.410C>A c.-650C>A (n.-650C>A) | |
19 | g.12665420A>C | CA404256466 | MAN2B1 | c.368T>G (p.Phe123Cys) n.350T>G c.265T>G (p.Ser89Ala) n.306T>G c.359T>G (p.Phe120Cys) c.395T>G (p.Phe132Cys) n.409T>G c.-651T>G (n.-651T>G) | |
19 | g.12665420A>G | CA404256467 | MAN2B1 | c.368T>C (p.Phe123Ser) n.350T>C c.265T>C (p.Ser89Pro) n.306T>C c.359T>C (p.Phe120Ser) c.395T>C (p.Phe132Ser) n.409T>C c.-651T>C (n.-651T>C) | |
19 | g.12665420A>T | CA404256472 | MAN2B1 | c.368T>A (p.Phe123Tyr) n.350T>A c.265T>A (p.Ser89Thr) n.306T>A c.359T>A (p.Phe120Tyr) c.395T>A (p.Phe132Tyr) n.409T>A c.-651T>A (n.-651T>A) | gnomAD v4 |
19 | g.12665421del | CA2842057753 | MAN2B1 | c.368del (p.Phe123SerfsTer?) n.350del c.265del (p.Ser89LeufsTer?) n.306del c.359del (p.Phe120SerfsTer?) c.395del (p.Phe132SerfsTer?) n.409del c.-651del (n.-651del) | |
19 | g.12665421A>C | CA404256482 | MAN2B1 | c.367T>G (p.Phe123Val) n.349T>G c.264T>G (p.Pro88=) n.305T>G c.358T>G (p.Phe120Val) c.394T>G (p.Phe132Val) n.408T>G c.-652T>G (n.-652T>G) | |
19 | g.12665421A>G | CA404256481 | MAN2B1 | c.367T>C (p.Phe123Leu) n.349T>C c.264T>C (p.Pro88=) n.305T>C c.358T>C (p.Phe120Leu) c.394T>C (p.Phe132Leu) n.408T>C c.-652T>C (n.-652T>C) | |
19 | g.12665421A>T | CA404256478 | MAN2B1 | c.367T>A (p.Phe123Ile) n.349T>A c.264T>A (p.Pro88=) n.305T>A c.358T>A (p.Phe120Ile) c.394T>A (p.Phe132Ile) n.408T>A c.-652T>A (n.-652T>A) | |
19 | g.12665422G>A | CA404256483 | MAN2B1 | c.366C>T (p.Ala122=) n.348C>T c.263C>T (p.Pro88Leu) n.304C>T c.357C>T (p.Ala119=) c.393C>T (p.Ala131=) n.407C>T c.-653C>T (n.-653C>T) | ClinVar |
19 | g.12665422G>C | CA404256484 | MAN2B1 | c.366C>G (p.Ala122=) n.348C>G c.263C>G (p.Pro88Arg) n.304C>G c.357C>G (p.Ala119=) c.393C>G (p.Ala131=) n.407C>G c.-653C>G (n.-653C>G) | ClinVar dbSNP |
19 | g.12665422G= | CA2323507703 | MAN2B1 | c.366C= (p.Ala122=) n.348C= c.263C= (p.Pro88=) n.304C= c.357C= (p.Ala119=) c.393C= (p.Ala131=) n.407C= c.-653C= (n.-653C=) | |
19 | g.12665422G>T | CA404256485 | MAN2B1 | c.366C>A (p.Ala122=) n.348C>A c.263C>A (p.Pro88His) n.304C>A c.357C>A (p.Ala119=) c.393C>A (p.Ala131=) n.407C>A c.-653C>A (n.-653C>A) | |
19 | g.12665423G>A | CA404256486 | MAN2B1 | c.365C>T (p.Ala122Val) n.347C>T c.262C>T (p.Pro88Ser) n.303C>T c.356C>T (p.Ala119Val) c.392C>T (p.Ala131Val) n.406C>T c.-654C>T (n.-654C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12665423G>C | CA404256487 | MAN2B1 | c.365C>G (p.Ala122Gly) n.347C>G c.262C>G (p.Pro88Ala) n.303C>G c.356C>G (p.Ala119Gly) c.392C>G (p.Ala131Gly) n.406C>G c.-654C>G (n.-654C>G) | gnomAD v4 |
19 | g.12665423G= | CA2323507704 | MAN2B1 | c.365C= (p.Ala122=) n.347C= c.262C= (p.Pro88=) n.303C= c.356C= (p.Ala119=) c.392C= (p.Ala131=) n.406C= c.-654C= (n.-654C=) | |
19 | g.12665423G>T | CA404256491 | MAN2B1 | c.365C>A (p.Ala122Asp) n.347C>A c.262C>A (p.Pro88Thr) n.303C>A c.356C>A (p.Ala119Asp) c.392C>A (p.Ala131Asp) n.406C>A c.-654C>A (n.-654C>A) | |
19 | g.12665424C>A | CA404256492 | MAN2B1 | c.364G>T (p.Ala122Ser) n.346G>T c.261G>T (p.Leu87Phe) n.302G>T c.355G>T (p.Ala119Ser) c.391G>T (p.Ala131Ser) n.405G>T c.-655G>T (n.-655G>T) | gnomAD v4 |
19 | g.12665424C= | CA2323507705 | MAN2B1 | c.364G= (p.Ala122=) n.346G= c.261G= (p.Leu87=) n.302G= c.355G= (p.Ala119=) c.391G= (p.Ala131=) n.405G= c.-655G= (n.-655G=) | |
19 | g.12665424C>G | CA404256493 | MAN2B1 | c.364G>C (p.Ala122Pro) n.346G>C c.261G>C (p.Leu87Phe) n.302G>C c.355G>C (p.Ala119Pro) c.391G>C (p.Ala131Pro) n.405G>C c.-655G>C (n.-655G>C) | |
19 | g.12665424C>T | CA9226832 | MAN2B1 | c.364G>A (p.Ala122Thr) n.346G>A c.261G>A (p.Leu87=) n.302G>A c.355G>A (p.Ala119Thr) c.391G>A (p.Ala131Thr) n.405G>A c.-655G>A (n.-655G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12665425A>C | CA404256496 | MAN2B1 | c.363T>G (p.Ile121Met) n.345T>G c.260T>G (p.Leu87Trp) n.301T>G c.354T>G (p.Ile118Met) c.390T>G (p.Ile130Met) n.404T>G c.-656T>G (n.-656T>G) | COSMIC |
19 | g.12665425A>G | CA404256500 | MAN2B1 | c.363T>C (p.Ile121=) n.345T>C c.260T>C (p.Leu87Ser) n.301T>C c.354T>C (p.Ile118=) c.390T>C (p.Ile130=) n.404T>C c.-656T>C (n.-656T>C) | |
19 | g.12665425A>T | CA404256503 | MAN2B1 | c.363T>A (p.Ile121=) n.345T>A c.260T>A (p.Leu87Ter) n.301T>A c.354T>A (p.Ile118=) c.390T>A (p.Ile130=) n.404T>A c.-656T>A (n.-656T>A) | |
19 | g.12665426A>C | CA404256505 | MAN2B1 | c.362T>G (p.Ile121Ser) n.344T>G c.259T>G (p.Leu87Val) n.300T>G c.353T>G (p.Ile118Ser) c.389T>G (p.Ile130Ser) n.403T>G c.-657T>G (n.-657T>G) | |
19 | g.12665426A>G | CA404256509 | MAN2B1 | c.362T>C (p.Ile121Thr) n.344T>C c.259T>C (p.Leu87=) n.300T>C c.353T>C (p.Ile118Thr) c.389T>C (p.Ile130Thr) n.403T>C c.-657T>C (n.-657T>C) | gnomAD v4 |
19 | g.12665426A>T | CA404256507 | MAN2B1 | c.362T>A (p.Ile121Asn) n.344T>A c.259T>A (p.Leu87Met) n.300T>A c.353T>A (p.Ile118Asn) c.389T>A (p.Ile130Asn) n.403T>A c.-657T>A (n.-657T>A) | |
19 | g.12665427T>A | CA404256512 | MAN2B1 | c.361A>T (p.Ile121Phe) n.343A>T c.258A>T (p.Arg86Ser) n.299A>T c.352A>T (p.Ile118Phe) c.388A>T (p.Ile130Phe) n.402A>T c.-658A>T (n.-658A>T) | |
19 | g.12665427T>C | CA404256517 | MAN2B1 | c.361A>G (p.Ile121Val) n.343A>G c.258A>G (p.Arg86=) n.299A>G c.352A>G (p.Ile118Val) c.388A>G (p.Ile130Val) n.402A>G c.-658A>G (n.-658A>G) | |
19 | g.12665427T>G | CA404256514 | MAN2B1 | c.361A>C (p.Ile121Leu) n.343A>C c.258A>C (p.Arg86Ser) n.299A>C c.352A>C (p.Ile118Leu) c.388A>C (p.Ile130Leu) n.402A>C c.-658A>C (n.-658A>C) | |
19 | g.12665428C>A | CA404256522 | MAN2B1 | c.360G>T (p.Glu120Asp) n.342G>T c.257G>T (p.Arg86Ile) n.298G>T c.351G>T (p.Glu117Asp) c.387G>T (p.Glu129Asp) n.401G>T c.-659G>T (n.-659G>T) | |
19 | g.12665428C>G | CA404256526 | MAN2B1 | c.360G>C (p.Glu120Asp) n.342G>C c.257G>C (p.Arg86Thr) n.298G>C c.351G>C (p.Glu117Asp) c.387G>C (p.Glu129Asp) n.401G>C c.-659G>C (n.-659G>C) | |
19 | g.12665428C>T | CA404256529 | MAN2B1 | c.360G>A (p.Glu120=) n.342G>A c.257G>A (p.Arg86Lys) n.298G>A c.351G>A (p.Glu117=) c.387G>A (p.Glu129=) n.401G>A c.-659G>A (n.-659G>A) | ClinVar dbSNP |
19 | g.12665429T>A | CA404256532 | MAN2B1 | c.359A>T (p.Glu120Val) n.341A>T c.256A>T (p.Arg86Ter) n.297A>T c.350A>T (p.Glu117Val) c.386A>T (p.Glu129Val) n.400A>T c.-660A>T (n.-660A>T) | |
19 | g.12665429T>C | CA404256535 | MAN2B1 | c.359A>G (p.Glu120Gly) n.341A>G c.256A>G (p.Arg86Gly) n.297A>G c.350A>G (p.Glu117Gly) c.386A>G (p.Glu129Gly) n.400A>G c.-660A>G (n.-660A>G) | gnomAD v4 |
19 | g.12665429T>G | CA404256537 | MAN2B1 | c.359A>C (p.Glu120Ala) n.341A>C c.256A>C (p.Arg86=) n.297A>C c.350A>C (p.Glu117Ala) c.386A>C (p.Glu129Ala) n.400A>C c.-660A>C (n.-660A>C) | gnomAD v4 |
19 | g.12665430C>A | CA404256543 | MAN2B1 | c.358G>T (p.Glu120Ter) n.340G>T c.255G>T (p.Trp85Cys) n.296G>T c.349G>T (p.Glu117Ter) c.385G>T (p.Glu129Ter) n.399G>T c.-661G>T (n.-661G>T) | |
19 | g.12665430C= | CA2323507706 | MAN2B1 | c.358G= (p.Glu120=) n.340G= c.255G= (p.Trp85=) n.296G= c.349G= (p.Glu117=) c.385G= (p.Glu129=) n.399G= c.-661G= (n.-661G=) | |
19 | g.12665430C>G | CA404256544 | MAN2B1 | c.358G>C (p.Glu120Gln) n.340G>C c.255G>C (p.Trp85Cys) n.296G>C c.349G>C (p.Glu117Gln) c.385G>C (p.Glu129Gln) n.399G>C c.-661G>C (n.-661G>C) | |
19 | g.12665430C>T | CA404256548 | MAN2B1 | c.358G>A (p.Glu120Lys) n.340G>A c.255G>A (p.Trp85Ter) n.296G>A c.349G>A (p.Glu117Lys) c.385G>A (p.Glu129Lys) n.399G>A c.-661G>A (n.-661G>A) | ClinVar dbSNP |
19 | g.12665431dup | CA2842057754 | MAN2B1 | c.358dup (p.Glu120GlyfsTer?) n.340dup c.255dup (p.Arg86GlufsTer?) n.296dup c.349dup (p.Glu117GlyfsTer?) c.385dup (p.Glu129GlyfsTer?) n.399dup c.-661dup (n.-661dup) | |
19 | g.12665431del | CA2582722641 | MAN2B1 | c.358del (p.Glu120ArgfsTer?) n.340del c.255del (p.Trp85Ter) n.296del c.349del (p.Glu117ArgfsTer?) c.385del (p.Glu129ArgfsTer?) n.399del c.-661del (n.-661del) | gnomAD v4 |
19 | g.12665431C>A | CA404256553 | MAN2B1 | c.357G>T (p.Val119=) n.339G>T c.254G>T (p.Trp85Leu) n.295G>T c.348G>T (p.Val116=) c.384G>T (p.Val128=) n.398G>T c.-662G>T (n.-662G>T) | |
19 | g.12665431C= | CA2323507707 | MAN2B1 | c.357G= (p.Val119=) n.339G= c.254G= (p.Trp85=) n.295G= c.348G= (p.Val116=) c.384G= (p.Val128=) n.398G= c.-662G= (n.-662G=) | |
19 | g.12665431C>G | CA404256556 | MAN2B1 | c.357G>C (p.Val119=) n.339G>C c.254G>C (p.Trp85Ser) n.295G>C c.348G>C (p.Val116=) c.384G>C (p.Val128=) n.398G>C c.-662G>C (n.-662G>C) | gnomAD v4 |
19 | g.12665431C>T | CA404256558 | MAN2B1 | c.357G>A (p.Val119=) n.339G>A c.254G>A (p.Trp85Ter) n.295G>A c.348G>A (p.Val116=) c.384G>A (p.Val128=) n.398G>A c.-662G>A (n.-662G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.12665432A>C | CA404256568 | MAN2B1 | c.356T>G (p.Val119Gly) n.338T>G c.253T>G (p.Trp85Gly) n.294T>G c.347T>G (p.Val116Gly) c.383T>G (p.Val128Gly) n.397T>G c.-663T>G (n.-663T>G) | gnomAD v4 |
19 | g.12665432A>G | CA404256575 | MAN2B1 | c.356T>C (p.Val119Ala) n.338T>C c.253T>C (p.Trp85Arg) n.294T>C c.347T>C (p.Val116Ala) c.383T>C (p.Val128Ala) n.397T>C c.-663T>C (n.-663T>C) | |
19 | g.12665432A>T | CA404256572 | MAN2B1 | c.356T>A (p.Val119Glu) n.338T>A c.253T>A (p.Trp85Arg) n.294T>A c.347T>A (p.Val116Glu) c.383T>A (p.Val128Glu) n.397T>A c.-663T>A (n.-663T>A) | |
19 | g.12665433del | CA2842057755 | MAN2B1 | c.355del (p.Val119TrpfsTer?) n.337del c.252del (p.Trp85GlyfsTer?) n.293del c.346del (p.Val116TrpfsTer?) c.382del (p.Val128TrpfsTer?) n.396del c.-664del (n.-664del) | |
19 | g.12665433C>A | CA404256576 | MAN2B1 | c.355G>T (p.Val119Leu) n.337G>T c.252G>T (p.Thr84=) n.293G>T c.346G>T (p.Val116Leu) c.382G>T (p.Val128Leu) n.396G>T c.-664G>T (n.-664G>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.12665433C= | CA2323507708 | MAN2B1 | c.355G= (p.Val119=) n.337G= c.252G= (p.Thr84=) n.293G= c.346G= (p.Val116=) c.382G= (p.Val128=) n.396G= c.-664G= (n.-664G=) | |
19 | g.12665433C>G | CA404256577 | MAN2B1 | c.355G>C (p.Val119Leu) n.337G>C c.252G>C (p.Thr84=) n.293G>C c.346G>C (p.Val116Leu) c.382G>C (p.Val128Leu) n.396G>C c.-664G>C (n.-664G>C) | ClinVar dbSNP |
19 | g.12665433C>T | CA9226833 | MAN2B1 | c.355G>A (p.Val119Met) n.337G>A c.252G>A (p.Thr84=) n.293G>A c.346G>A (p.Val116Met) c.382G>A (p.Val128Met) n.396G>A c.-664G>A (n.-664G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.12665434G>A | CA9226834 | MAN2B1 | c.354C>T (p.Tyr118=) n.336C>T c.251C>T (p.Thr84Met) n.292C>T c.345C>T (p.Tyr115=) c.381C>T (p.Tyr127=) n.395C>T c.-665C>T (n.-665C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12665434G>C | CA404256591 | MAN2B1 | c.354C>G (p.Tyr118Ter) n.336C>G c.251C>G (p.Thr84Arg) n.292C>G c.345C>G (p.Tyr115Ter) c.381C>G (p.Tyr127Ter) n.395C>G c.-665C>G (n.-665C>G) | |
19 | g.12665434G= | CA2323507709 | MAN2B1 | c.354C= (p.Tyr118=) n.336C= c.251C= (p.Thr84=) n.292C= c.345C= (p.Tyr115=) c.381C= (p.Tyr127=) n.395C= c.-665C= (n.-665C=) | |
19 | g.12665434G>T | CA404256595 | MAN2B1 | c.354C>A (p.Tyr118Ter) n.336C>A c.251C>A (p.Thr84Lys) n.292C>A c.345C>A (p.Tyr115Ter) c.381C>A (p.Tyr127Ter) n.395C>A c.-665C>A (n.-665C>A) | gnomAD v4 |
19 | g.12665435T>A | CA404256606 | MAN2B1 | c.353A>T (p.Tyr118Phe) n.335A>T c.250A>T (p.Thr84Ser) n.291A>T c.344A>T (p.Tyr115Phe) c.380A>T (p.Tyr127Phe) n.394A>T c.-666A>T (n.-666A>T) | gnomAD v4 |
19 | g.12665435T>C | CA404256607 | MAN2B1 | c.353A>G (p.Tyr118Cys) n.335A>G c.250A>G (p.Thr84Ala) n.291A>G c.344A>G (p.Tyr115Cys) c.380A>G (p.Tyr127Cys) n.394A>G c.-666A>G (n.-666A>G) | dbSNP |
19 | g.12665435T>G | CA404256616 | MAN2B1 | c.353A>C (p.Tyr118Ser) n.335A>C c.250A>C (p.Thr84Pro) n.291A>C c.344A>C (p.Tyr115Ser) c.380A>C (p.Tyr127Ser) n.394A>C c.-666A>C (n.-666A>C) | |
19 | g.12665435T= | CA2323507710 | MAN2B1 | c.353A= (p.Tyr118=) n.335A= c.250A= (p.Thr84=) n.291A= c.344A= (p.Tyr115=) c.380A= (p.Tyr127=) n.394A= c.-666A= (n.-666A=) | |
19 | g.12665436A>C | CA404256621 | MAN2B1 | c.352T>G (p.Tyr118Asp) n.334T>G c.249T>G (p.Phe83Leu) n.290T>G c.343T>G (p.Tyr115Asp) c.379T>G (p.Tyr127Asp) n.393T>G c.-667T>G (n.-667T>G) | ClinVar |
19 | g.12665436A>G | CA404256626 | MAN2B1 | c.352T>C (p.Tyr118His) n.334T>C c.249T>C (p.Phe83=) n.290T>C c.343T>C (p.Tyr115His) c.379T>C (p.Tyr127His) n.393T>C c.-667T>C (n.-667T>C) | |
19 | g.12665436A>T | CA404256619 | MAN2B1 | c.352T>A (p.Tyr118Asn) n.334T>A c.249T>A (p.Phe83Leu) n.290T>A c.343T>A (p.Tyr115Asn) c.379T>A (p.Tyr127Asn) n.393T>A c.-667T>A (n.-667T>A) | |
19 | g.12665437A>C | CA404256632 | MAN2B1 | c.351T>G (p.Ile117Met) n.333T>G c.248T>G (p.Phe83Cys) n.289T>G c.342T>G (p.Ile114Met) c.378T>G (p.Ile126Met) n.392T>G c.-668T>G (n.-668T>G) | |
19 | g.12665437A>G | CA404256635 | MAN2B1 | c.351T>C (p.Ile117=) n.333T>C c.248T>C (p.Phe83Ser) n.289T>C c.342T>C (p.Ile114=) c.378T>C (p.Ile126=) n.392T>C c.-668T>C (n.-668T>C) | |
19 | g.12665437A>T | CA404256640 | MAN2B1 | c.351T>A (p.Ile117=) n.333T>A c.248T>A (p.Phe83Tyr) n.289T>A c.342T>A (p.Ile114=) c.378T>A (p.Ile126=) n.392T>A c.-668T>A (n.-668T>A) | |
19 | g.12665438A>C | CA404256643 | MAN2B1 | c.350T>G (p.Ile117Ser) n.332T>G c.247T>G (p.Phe83Val) n.288T>G c.341T>G (p.Ile114Ser) c.377T>G (p.Ile126Ser) n.391T>G c.-669T>G (n.-669T>G) | |
19 | g.12665438A>G | CA404256645 | MAN2B1 | c.350T>C (p.Ile117Thr) n.332T>C c.247T>C (p.Phe83Leu) n.288T>C c.341T>C (p.Ile114Thr) c.377T>C (p.Ile126Thr) n.391T>C c.-669T>C (n.-669T>C) | |
19 | g.12665438A>T | CA404256650 | MAN2B1 | c.350T>A (p.Ile117Asn) n.332T>A c.247T>A (p.Phe83Ile) n.288T>A c.341T>A (p.Ile114Asn) c.377T>A (p.Ile126Asn) n.391T>A c.-669T>A (n.-669T>A) | |
19 | g.12665439T>A | CA404256653 | MAN2B1 | c.349A>T (p.Ile117Phe) n.331A>T c.246A>T (p.Ser82=) n.287A>T c.340A>T (p.Ile114Phe) c.376A>T (p.Ile126Phe) n.390A>T c.-670A>T (n.-670A>T) | |
19 | g.12665439T>C | CA404256655 | MAN2B1 | c.349A>G (p.Ile117Val) n.331A>G c.246A>G (p.Ser82=) n.287A>G c.340A>G (p.Ile114Val) c.376A>G (p.Ile126Val) n.390A>G c.-670A>G (n.-670A>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12665439T>G | CA404256660 | MAN2B1 | c.349A>C (p.Ile117Leu) n.331A>C c.246A>C (p.Ser82=) n.287A>C c.340A>C (p.Ile114Leu) c.376A>C (p.Ile126Leu) n.390A>C c.-670A>C (n.-670A>C) | |
19 | g.12665439T= | CA2323507711 | MAN2B1 | c.349A= (p.Ile117=) n.331A= c.246A= (p.Ser82=) n.287A= c.340A= (p.Ile114=) c.376A= (p.Ile126=) n.390A= c.-670A= (n.-670A=) | |
19 | g.12665440G>A | CA404256664 | MAN2B1 | c.348C>T (p.Phe116=) n.330C>T c.245C>T (p.Ser82Leu) n.286C>T c.339C>T (p.Phe113=) c.375C>T (p.Phe125=) n.389C>T c.-671C>T (n.-671C>T) | |
19 | g.12665440G>C | CA404256665 | MAN2B1 | c.348C>G (p.Phe116Leu) n.330C>G c.245C>G (p.Ser82Ter) n.286C>G c.339C>G (p.Phe113Leu) c.375C>G (p.Phe125Leu) n.389C>G c.-671C>G (n.-671C>G) | gnomAD v4 |
19 | g.12665440G>T | CA404256668 | MAN2B1 | c.348C>A (p.Phe116Leu) n.330C>A c.245C>A (p.Ser82Ter) n.286C>A c.339C>A (p.Phe113Leu) c.375C>A (p.Phe125Leu) n.389C>A c.-671C>A (n.-671C>A) | |
19 | g.12665440_12665450dup | CA2695228141 | MAN2B1 | c.338_348dup (p.Ile117ProfsTer?) n.320_330dup c.235_245dup (p.Phe83ProfsTer?) n.276_286dup c.329_339dup (p.Ile114ProfsTer?) c.365_375dup (p.Ile126ProfsTer?) n.379_389dup c.-681_-671dup (n.-681_-671dup) | |
19 | g.12665441A>C | CA404256680 | MAN2B1 | c.347T>G (p.Phe116Cys) n.329T>G c.244T>G (p.Ser82Ala) n.285T>G c.338T>G (p.Phe113Cys) c.374T>G (p.Phe125Cys) n.388T>G c.-672T>G (n.-672T>G) | |
19 | g.12665441A>G | CA404256672 | MAN2B1 | c.347T>C (p.Phe116Ser) n.329T>C c.244T>C (p.Ser82Pro) n.285T>C c.338T>C (p.Phe113Ser) c.374T>C (p.Phe125Ser) n.388T>C c.-672T>C (n.-672T>C) | |
19 | g.12665441A>T | CA404256676 | MAN2B1 | c.347T>A (p.Phe116Tyr) n.329T>A c.244T>A (p.Ser82Thr) n.285T>A c.338T>A (p.Phe113Tyr) c.374T>A (p.Phe125Tyr) n.388T>A c.-672T>A (n.-672T>A) | |
19 | g.12665442dup | CA2838529923 | MAN2B1 | c.347dup (p.Ile117HisfsTer?) n.329dup c.244dup (p.Ser82PhefsTer?) n.285dup c.338dup (p.Ile114HisfsTer?) c.374dup (p.Ile126HisfsTer?) n.388dup c.-672dup (n.-672dup) | |
19 | g.12665442A>C | CA404256681 | MAN2B1 | c.346T>G (p.Phe116Val) n.328T>G c.243T>G (p.Ala81=) n.284T>G c.337T>G (p.Phe113Val) c.373T>G (p.Phe125Val) n.387T>G c.-673T>G (n.-673T>G) | gnomAD v4 |
19 | g.12665442A>G | CA404256685 | MAN2B1 | c.346T>C (p.Phe116Leu) n.328T>C c.243T>C (p.Ala81=) n.284T>C c.337T>C (p.Phe113Leu) c.373T>C (p.Phe125Leu) n.387T>C c.-673T>C (n.-673T>C) | |
19 | g.12665442A>T | CA404256691 | MAN2B1 | c.346T>A (p.Phe116Ile) n.328T>A c.243T>A (p.Ala81=) n.284T>A c.337T>A (p.Phe113Ile) c.373T>A (p.Phe125Ile) n.387T>A c.-673T>A (n.-673T>A) | |
19 | g.12665443G>A | CA404256695 | MAN2B1 | c.345C>T (p.Arg115=) n.327C>T c.242C>T (p.Ala81Val) n.283C>T c.336C>T (p.Arg112=) c.372C>T (p.Arg124=) n.386C>T c.-674C>T (n.-674C>T) | |
19 | g.12665443G>C | CA404256701 | MAN2B1 | c.345C>G (p.Arg115=) n.327C>G c.242C>G (p.Ala81Gly) n.283C>G c.336C>G (p.Arg112=) c.372C>G (p.Arg124=) n.386C>G c.-674C>G (n.-674C>G) | |
19 | g.12665443G>T | CA404256704 | MAN2B1 | c.345C>A (p.Arg115=) n.327C>A c.242C>A (p.Ala81Asp) n.283C>A c.336C>A (p.Arg112=) c.372C>A (p.Arg124=) n.386C>A c.-674C>A (n.-674C>A) | |
19 | g.12665444C>A | CA404256710 | MAN2B1 | c.344G>T (p.Arg115Leu) n.326G>T c.241G>T (p.Ala81Ser) n.282G>T c.335G>T (p.Arg112Leu) c.371G>T (p.Arg124Leu) n.385G>T c.-675G>T (n.-675G>T) | dbSNP COSMIC |
19 | g.12665444C= | CA2323507712 | MAN2B1 | c.344G= (p.Arg115=) n.326G= c.241G= (p.Ala81=) n.282G= c.335G= (p.Arg112=) c.371G= (p.Arg124=) n.385G= c.-675G= (n.-675G=) | |
19 | g.12665444C>G | CA9226835 | MAN2B1 | c.344G>C (p.Arg115Pro) n.326G>C c.241G>C (p.Ala81Pro) n.282G>C c.335G>C (p.Arg112Pro) c.371G>C (p.Arg124Pro) n.385G>C c.-675G>C (n.-675G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12665444C>T | CA404256717 | MAN2B1 | c.344G>A (p.Arg115His) n.326G>A c.241G>A (p.Ala81Thr) n.282G>A c.335G>A (p.Arg112His) c.371G>A (p.Arg124His) n.385G>A c.-675G>A (n.-675G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12665445G>A | CA9226837 | MAN2B1 | c.343C>T (p.Arg115Cys) n.325C>T c.240C>T (p.Val80=) n.281C>T c.334C>T (p.Arg112Cys) c.370C>T (p.Arg124Cys) n.384C>T c.-676C>T (n.-676C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12665445G>C | CA9226836 | MAN2B1 | c.343C>G (p.Arg115Gly) n.325C>G c.240C>G (p.Val80=) n.281C>G c.334C>G (p.Arg112Gly) c.370C>G (p.Arg124Gly) n.384C>G c.-676C>G (n.-676C>G) | dbSNP ExAC gnomAD v2 |
19 | g.12665445G= | CA2323507713 | MAN2B1 | c.343C= (p.Arg115=) n.325C= c.240C= (p.Val80=) n.281C= c.334C= (p.Arg112=) c.370C= (p.Arg124=) n.384C= c.-676C= (n.-676C=) | |
19 | g.12665445G>T | CA404256735 | MAN2B1 | c.343C>A (p.Arg115Ser) n.325C>A c.240C>A (p.Val80=) n.281C>A c.334C>A (p.Arg112Ser) c.370C>A (p.Arg124Ser) n.384C>A c.-676C>A (n.-676C>A) | |
19 | g.12665445dup | CA2580096483 | MAN2B1 | c.343dup (p.Arg115ProfsTer?) n.325dup c.240dup (p.Ala81ArgfsTer?) n.281dup c.334dup (p.Arg112ProfsTer?) c.370dup (p.Arg124ProfsTer?) n.384dup c.-676dup (n.-676dup) | ClinVar |
19 | g.12665446A= | CA2323507714 | MAN2B1 | c.342T= (p.Arg114=) n.324T= c.239T= (p.Val80=) n.280T= c.333T= (p.Arg111=) c.369T= (p.Arg123=) n.383T= c.-677T= (n.-677T=) | |
19 | g.12665446A>C | CA404256756 | MAN2B1 | c.342T>G (p.Arg114=) n.324T>G c.239T>G (p.Val80Gly) n.280T>G c.333T>G (p.Arg111=) c.369T>G (p.Arg123=) n.383T>G c.-677T>G (n.-677T>G) | dbSNP gnomAD v4 |
19 | g.12665446A>G | CA404256751 | MAN2B1 | c.342T>C (p.Arg114=) n.324T>C c.239T>C (p.Val80Ala) n.280T>C c.333T>C (p.Arg111=) c.369T>C (p.Arg123=) n.383T>C c.-677T>C (n.-677T>C) | |
19 | g.12665446A>T | CA404256743 | MAN2B1 | c.342T>A (p.Arg114=) n.324T>A c.239T>A (p.Val80Asp) n.280T>A c.333T>A (p.Arg111=) c.369T>A (p.Arg123=) n.383T>A c.-677T>A (n.-677T>A) | |
19 | g.12665447C>A | CA404256757 | MAN2B1 | c.341G>T (p.Arg114Leu) n.323G>T c.238G>T (p.Val80Phe) n.279G>T c.332G>T (p.Arg111Leu) c.368G>T (p.Arg123Leu) n.382G>T c.-678G>T (n.-678G>T) | gnomAD v4 |
19 | g.12665447C= | CA2323507715 | MAN2B1 | c.341G= (p.Arg114=) n.323G= c.238G= (p.Val80=) n.279G= c.332G= (p.Arg111=) c.368G= (p.Arg123=) n.382G= c.-678G= (n.-678G=) | |
19 | g.12665447C>G | CA404256763 | MAN2B1 | c.341G>C (p.Arg114Pro) n.323G>C c.238G>C (p.Val80Leu) n.279G>C c.332G>C (p.Arg111Pro) c.368G>C (p.Arg123Pro) n.382G>C c.-678G>C (n.-678G>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.12665447C>T | CA9226838 | MAN2B1 | c.341G>A (p.Arg114His) n.323G>A c.238G>A (p.Val80Ile) n.279G>A c.332G>A (p.Arg111His) c.368G>A (p.Arg123His) n.382G>A c.-678G>A (n.-678G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12665448G>A | CA404256771 | MAN2B1 | c.340C>T (p.Arg114Cys) n.322C>T c.237C>T (p.Pro79=) n.278C>T c.331C>T (p.Arg111Cys) c.367C>T (p.Arg123Cys) n.381C>T c.-679C>T (n.-679C>T) | ClinVar dbSNP gnomAD v4 |
19 | g.12665448G>C | CA404256776 | MAN2B1 | c.340C>G (p.Arg114Gly) n.322C>G c.237C>G (p.Pro79=) n.278C>G c.331C>G (p.Arg111Gly) c.367C>G (p.Arg123Gly) n.381C>G c.-679C>G (n.-679C>G) | |
19 | g.12665448G= | CA2323507716 | MAN2B1 | c.340C= (p.Arg114=) n.322C= c.237C= (p.Pro79=) n.278C= c.331C= (p.Arg111=) c.367C= (p.Arg123=) n.381C= c.-679C= (n.-679C=) | |
19 | g.12665448G>T | CA404256773 | MAN2B1 | c.340C>A (p.Arg114Ser) n.322C>A c.237C>A (p.Pro79=) n.278C>A c.331C>A (p.Arg111Ser) c.367C>A (p.Arg123Ser) n.381C>A c.-679C>A (n.-679C>A) | COSMIC |
19 | g.12665449G>A | CA404256780 | MAN2B1 | c.339C>T (p.Thr113=) n.321C>T c.236C>T (p.Pro79Leu) n.277C>T c.330C>T (p.Thr110=) c.366C>T (p.Thr122=) n.380C>T c.-680C>T (n.-680C>T) | |
19 | g.12665449G>C | CA404256784 | MAN2B1 | c.339C>G (p.Thr113=) n.321C>G c.236C>G (p.Pro79Arg) n.277C>G c.330C>G (p.Thr110=) c.366C>G (p.Thr122=) n.380C>G c.-680C>G (n.-680C>G) | |
19 | g.12665449G>T | CA404256787 | MAN2B1 | c.339C>A (p.Thr113=) n.321C>A c.236C>A (p.Pro79His) n.277C>A c.330C>A (p.Thr110=) c.366C>A (p.Thr122=) n.380C>A c.-680C>A (n.-680C>A) | |
19 | g.12665450G>A | CA404256792 | MAN2B1 | c.338C>T (p.Thr113Ile) n.320C>T c.235C>T (p.Pro79Ser) n.276C>T c.329C>T (p.Thr110Ile) c.365C>T (p.Thr122Ile) n.379C>T c.-681C>T (n.-681C>T) | dbSNP |
19 | g.12665450G>C | CA404256795 | MAN2B1 | c.338C>G (p.Thr113Ser) n.320C>G c.235C>G (p.Pro79Ala) n.276C>G c.329C>G (p.Thr110Ser) c.365C>G (p.Thr122Ser) n.379C>G c.-681C>G (n.-681C>G) | |
19 | g.12665450G= | CA2323507717 | MAN2B1 | c.338C= (p.Thr113=) n.320C= c.235C= (p.Pro79=) n.276C= c.329C= (p.Thr110=) c.365C= (p.Thr122=) n.379C= c.-681C= (n.-681C=) | |
19 | g.12665450G>T | CA404256798 | MAN2B1 | c.338C>A (p.Thr113Asn) n.320C>A c.235C>A (p.Pro79Thr) n.276C>A c.329C>A (p.Thr110Asn) c.365C>A (p.Thr122Asn) n.379C>A c.-681C>A (n.-681C>A) | |
19 | g.12665451T>A | CA404256805 | MAN2B1 | c.337A>T (p.Thr113Ser) n.319A>T c.234A>T (p.Pro78=) n.275A>T c.328A>T (p.Thr110Ser) c.364A>T (p.Thr122Ser) n.378A>T c.-682A>T (n.-682A>T) | |
19 | g.12665451T>C | CA404256819 | MAN2B1 | c.337A>G (p.Thr113Ala) n.319A>G c.234A>G (p.Pro78=) n.275A>G c.328A>G (p.Thr110Ala) c.364A>G (p.Thr122Ala) n.378A>G c.-682A>G (n.-682A>G) | |
19 | g.12665451T>G | CA404256823 | MAN2B1 | c.337A>C (p.Thr113Pro) n.319A>C c.234A>C (p.Pro78=) n.275A>C c.328A>C (p.Thr110Pro) c.364A>C (p.Thr122Pro) n.378A>C c.-682A>C (n.-682A>C) | |
19 | g.12665452G>A | CA404256828 | MAN2B1 | c.336C>T (p.Pro112=) n.318C>T c.233C>T (p.Pro78Leu) n.274C>T c.327C>T (p.Pro109=) c.363C>T (p.Pro121=) n.377C>T c.-683C>T (n.-683C>T) | gnomAD v4 |
19 | g.12665452G>C | CA404256831 | MAN2B1 | c.336C>G (p.Pro112=) n.318C>G c.233C>G (p.Pro78Arg) n.274C>G c.327C>G (p.Pro109=) c.363C>G (p.Pro121=) n.377C>G c.-683C>G (n.-683C>G) | |
19 | g.12665452G>T | CA404256833 | MAN2B1 | c.336C>A (p.Pro112=) n.318C>A c.233C>A (p.Pro78Gln) n.274C>A c.327C>A (p.Pro109=) c.363C>A (p.Pro121=) n.377C>A c.-683C>A (n.-683C>A) | |
19 | g.12665454dup | CA2842057756 | MAN2B1 | c.336dup (p.Thr113HisfsTer?) n.318dup c.233dup (p.Pro79ThrfsTer?) n.274dup c.327dup (p.Thr110HisfsTer?) c.363dup (p.Thr122HisfsTer?) n.377dup c.-683dup (n.-683dup) | |
19 | g.12665454del | CA2838529924 | MAN2B1 | c.336del (p.Thr113ProfsTer?) n.318del c.233del (p.Pro78HisfsTer?) n.274del c.327del (p.Thr110ProfsTer?) c.363del (p.Thr122ProfsTer?) n.377del c.-683del (n.-683del) | |
19 | g.12665453G>A | CA404256841 | MAN2B1 | c.335C>T (p.Pro112Leu) n.317C>T c.232C>T (p.Pro78Ser) n.273C>T c.326C>T (p.Pro109Leu) c.362C>T (p.Pro121Leu) n.376C>T c.-684C>T (n.-684C>T) | |
19 | g.12665453G>C | CA404256836 | MAN2B1 | c.335C>G (p.Pro112Arg) n.317C>G c.232C>G (p.Pro78Ala) n.273C>G c.326C>G (p.Pro109Arg) c.362C>G (p.Pro121Arg) n.376C>G c.-684C>G (n.-684C>G) | |
19 | g.12665453G>T | CA404256838 | MAN2B1 | c.335C>A (p.Pro112His) n.317C>A c.232C>A (p.Pro78Thr) n.273C>A c.326C>A (p.Pro109His) c.362C>A (p.Pro121His) n.376C>A c.-684C>A (n.-684C>A) | |
19 | g.12665453_12665455delinsGGA | CA2323507718 | MAN2B1 | c.333_335delinsTCC (p.Asp111=) n.315_317delinsTCC c.230_232delinsTCC (p.Ile77=) n.271_273delinsTCC c.324_326delinsTCC (p.Asp108=) c.360_362delinsTCC (p.Asp120=) n.374_376delinsTCC c.-686_-684delinsTCC (n.-686_-684delinsTCC) | |
19 | g.12665454G>A | CA404256846 | MAN2B1 | c.334C>T (p.Pro112Ser) n.316C>T c.231C>T (p.Ile77=) n.272C>T c.325C>T (p.Pro109Ser) c.361C>T (p.Pro121Ser) n.375C>T c.-685C>T (n.-685C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.12665454G>C | CA404256852 | MAN2B1 | c.334C>G (p.Pro112Ala) n.316C>G c.231C>G (p.Ile77Met) n.272C>G c.325C>G (p.Pro109Ala) c.361C>G (p.Pro121Ala) n.375C>G c.-685C>G (n.-685C>G) | |
19 | g.12665454G= | CA2323507719 | MAN2B1 | c.334C= (p.Pro112=) n.316C= c.231C= (p.Ile77=) n.272C= c.325C= (p.Pro109=) c.361C= (p.Pro121=) n.375C= c.-685C= (n.-685C=) | |
19 | g.12665454G>T | CA404256853 | MAN2B1 | c.334C>A (p.Pro112Thr) n.316C>A c.231C>A (p.Ile77=) n.272C>A c.325C>A (p.Pro109Thr) c.361C>A (p.Pro121Thr) n.375C>A c.-685C>A (n.-685C>A) | |
19 | g.12665454_12665455del | CA9226839 | MAN2B1 | c.333_334del (p.Pro112HisfsTer?) n.315_316del c.230_231del (p.Ile77ThrfsTer?) n.271_272del c.324_325del (p.Pro109HisfsTer?) c.360_361del (p.Pro121HisfsTer?) n.374_375del c.-686_-685del (n.-686_-685del) | dbSNP ExAC |
19 | g.12665455A= | CA2323507720 | MAN2B1 | c.333T= (p.Asp111=) n.315T= c.230T= (p.Ile77=) n.271T= c.324T= (p.Asp108=) c.360T= (p.Asp120=) n.374T= c.-686T= (n.-686T=) | |
19 | g.12665455A>C | CA404256858 | MAN2B1 | c.333T>G (p.Asp111Glu) n.315T>G c.230T>G (p.Ile77Ser) n.271T>G c.324T>G (p.Asp108Glu) c.360T>G (p.Asp120Glu) n.374T>G c.-686T>G (n.-686T>G) | |
19 | g.12665455A>G | CA404256866 | MAN2B1 | c.333T>C (p.Asp111=) n.315T>C c.230T>C (p.Ile77Thr) n.271T>C c.324T>C (p.Asp108=) c.360T>C (p.Asp120=) n.374T>C c.-686T>C (n.-686T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.12665455A>T | CA404256871 | MAN2B1 | c.333T>A (p.Asp111Glu) n.315T>A c.230T>A (p.Ile77Asn) n.271T>A c.324T>A (p.Asp108Glu) c.360T>A (p.Asp120Glu) n.374T>A c.-686T>A (n.-686T>A) | |
19 | g.12665456T>A | CA404256875 | MAN2B1 | c.332A>T (p.Asp111Val) n.314A>T c.229A>T (p.Ile77Phe) n.270A>T c.323A>T (p.Asp108Val) c.359A>T (p.Asp120Val) n.373A>T c.-687A>T (n.-687A>T) | |
19 | g.12665456T>C | CA404256879 | MAN2B1 | c.332A>G (p.Asp111Gly) n.314A>G c.229A>G (p.Ile77Val) n.270A>G c.323A>G (p.Asp108Gly) c.359A>G (p.Asp120Gly) n.373A>G c.-687A>G (n.-687A>G) | |
19 | g.12665456T>G | CA404256883 | MAN2B1 | c.332A>C (p.Asp111Ala) n.314A>C c.229A>C (p.Ile77Leu) n.270A>C c.323A>C (p.Asp108Ala) c.359A>C (p.Asp120Ala) n.373A>C c.-687A>C (n.-687A>C) | |
19 | g.12665457C>A | CA404256896 | MAN2B1 | c.331G>T (p.Asp111Tyr) n.313G>T c.228G>T (p.Gln76His) n.269G>T c.322G>T (p.Asp108Tyr) c.358G>T (p.Asp120Tyr) n.372G>T c.-688G>T (n.-688G>T) | |
19 | g.12665457C>G | CA404256893 | MAN2B1 | c.331G>C (p.Asp111His) n.313G>C c.228G>C (p.Gln76His) n.269G>C c.322G>C (p.Asp108His) c.358G>C (p.Asp120His) n.372G>C c.-688G>C (n.-688G>C) | |
19 | g.12665457C>T | CA404256890 | MAN2B1 | c.331G>A (p.Asp111Asn) n.313G>A c.228G>A (p.Gln76=) n.269G>A c.322G>A (p.Asp108Asn) c.358G>A (p.Asp120Asn) n.372G>A c.-688G>A (n.-688G>A) | |
19 | g.12665458T>A | CA404256898 | MAN2B1 | c.330A>T (p.Ala110=) n.312A>T c.227A>T (p.Gln76Leu) n.268A>T c.321A>T (p.Ala107=) c.357A>T (p.Ala119=) n.371A>T c.-689A>T (n.-689A>T) | |
19 | g.12665458T>C | CA404256901 | MAN2B1 | c.330A>G (p.Ala110=) n.312A>G c.227A>G (p.Gln76Arg) n.268A>G c.321A>G (p.Ala107=) c.357A>G (p.Ala119=) n.371A>G c.-689A>G (n.-689A>G) | |
19 | g.12665458T>G | CA404256903 | MAN2B1 | c.330A>C (p.Ala110=) n.312A>C c.227A>C (p.Gln76Pro) n.268A>C c.321A>C (p.Ala107=) c.357A>C (p.Ala119=) n.371A>C c.-689A>C (n.-689A>C) | |
19 | g.12665459G>A | CA404256915 | MAN2B1 | c.329C>T (p.Ala110Val) n.311C>T c.226C>T (p.Gln76Ter) n.267C>T c.320C>T (p.Ala107Val) c.356C>T (p.Ala119Val) n.370C>T c.-690C>T (n.-690C>T) | |
19 | g.12665459G>C | CA404256924 | MAN2B1 | c.329C>G (p.Ala110Gly) n.311C>G c.226C>G (p.Gln76Glu) n.267C>G c.320C>G (p.Ala107Gly) c.356C>G (p.Ala119Gly) n.370C>G c.-690C>G (n.-690C>G) | |
19 | g.12665459G>T | CA404256934 | MAN2B1 | c.329C>A (p.Ala110Glu) n.311C>A c.226C>A (p.Gln76Lys) n.267C>A c.320C>A (p.Ala107Glu) c.356C>A (p.Ala119Glu) n.370C>A c.-690C>A (n.-690C>A) | |
19 | g.12665460C>A | CA404256940 | MAN2B1 | c.328G>T (p.Ala110Ser) n.310G>T c.225G>T (p.Trp75Cys) n.266G>T c.319G>T (p.Ala107Ser) c.355G>T (p.Ala119Ser) n.369G>T c.-691G>T (n.-691G>T) | |
19 | g.12665460C= | CA2323507721 | MAN2B1 | c.328G= (p.Ala110=) n.310G= c.225G= (p.Trp75=) n.266G= c.319G= (p.Ala107=) c.355G= (p.Ala119=) n.369G= c.-691G= (n.-691G=) | |
19 | g.12665460C>G | CA404256944 | MAN2B1 | c.328G>C (p.Ala110Pro) n.310G>C c.225G>C (p.Trp75Cys) n.266G>C c.319G>C (p.Ala107Pro) c.355G>C (p.Ala119Pro) n.369G>C c.-691G>C (n.-691G>C) | gnomAD v4 |
19 | g.12665460C>T | CA404256946 | MAN2B1 | c.328G>A (p.Ala110Thr) n.310G>A c.225G>A (p.Trp75Ter) n.266G>A c.319G>A (p.Ala107Thr) c.355G>A (p.Ala119Thr) n.369G>A c.-691G>A (n.-691G>A) | dbSNP |
19 | g.12665461C>A | CA404256947 | MAN2B1 | c.327G>T (p.Leu109=) n.309G>T c.224G>T (p.Trp75Leu) n.265G>T c.318G>T (p.Leu106=) c.354G>T (p.Leu118=) n.368G>T c.-692G>T (n.-692G>T) | |
19 | g.12665461C>G | CA404256948 | MAN2B1 | c.327G>C (p.Leu109=) n.309G>C c.224G>C (p.Trp75Ser) n.265G>C c.318G>C (p.Leu106=) c.354G>C (p.Leu118=) n.368G>C c.-692G>C (n.-692G>C) | |
19 | g.12665461C>T | CA404256949 | MAN2B1 | c.327G>A (p.Leu109=) n.309G>A c.224G>A (p.Trp75Ter) n.265G>A c.318G>A (p.Leu106=) c.354G>A (p.Leu118=) n.368G>A c.-692G>A (n.-692G>A) | |
19 | g.12665462A>C | CA404256956 | MAN2B1 | c.326T>G (p.Leu109Arg) n.308T>G c.223T>G (p.Trp75Gly) n.264T>G c.317T>G (p.Leu106Arg) c.353T>G (p.Leu118Arg) n.367T>G c.-693T>G (n.-693T>G) | gnomAD v4 |
19 | g.12665462A>G | CA404256955 | MAN2B1 | c.326T>C (p.Leu109Pro) n.308T>C c.223T>C (p.Trp75Arg) n.264T>C c.317T>C (p.Leu106Pro) c.353T>C (p.Leu118Pro) n.367T>C c.-693T>C (n.-693T>C) | |
19 | g.12665462A>T | CA404256951 | MAN2B1 | c.326T>A (p.Leu109Gln) n.308T>A c.223T>A (p.Trp75Arg) n.264T>A c.317T>A (p.Leu106Gln) c.353T>A (p.Leu118Gln) n.367T>A c.-693T>A (n.-693T>A) | |
19 | g.12665463G>A | CA9226840 | MAN2B1 | c.325C>T (p.Leu109=) n.307C>T c.222C>T (p.Cys74=) n.263C>T c.316C>T (p.Leu106=) c.352C>T (p.Leu118=) n.366C>T c.-694C>T (n.-694C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.12665463G>C | CA404256963 | MAN2B1 | c.325C>G (p.Leu109Val) n.307C>G c.222C>G (p.Cys74Trp) n.263C>G c.316C>G (p.Leu106Val) c.352C>G (p.Leu118Val) n.366C>G c.-694C>G (n.-694C>G) | |
19 | g.12665463G= | CA2323507722 | MAN2B1 | c.325C= (p.Leu109=) n.307C= c.222C= (p.Cys74=) n.263C= c.316C= (p.Leu106=) c.352C= (p.Leu118=) n.366C= c.-694C= (n.-694C=) | |
19 | g.12665463G>T | CA404256967 | MAN2B1 | c.325C>A (p.Leu109Met) n.307C>A c.222C>A (p.Cys74Ter) n.263C>A c.316C>A (p.Leu106Met) c.352C>A (p.Leu118Met) n.366C>A c.-694C>A (n.-694C>A) | |
19 | g.12665464C>A | CA404256972 | MAN2B1 | c.324G>T (p.Leu108Phe) n.306G>T c.221G>T (p.Cys74Phe) n.262G>T c.315G>T (p.Leu105Phe) c.351G>T (p.Leu117Phe) n.365G>T c.-695G>T (n.-695G>T) | |
19 | g.12665464C>G | CA404256975 | MAN2B1 | c.324G>C (p.Leu108Phe) n.306G>C c.221G>C (p.Cys74Ser) n.262G>C c.315G>C (p.Leu105Phe) c.351G>C (p.Leu117Phe) n.365G>C c.-695G>C (n.-695G>C) | |
19 | g.12665464C>T | CA404256976 | MAN2B1 | c.324G>A (p.Leu108=) n.306G>A c.221G>A (p.Cys74Tyr) n.262G>A c.315G>A (p.Leu105=) c.351G>A (p.Leu117=) n.365G>A c.-695G>A (n.-695G>A) | gnomAD v4 |
19 | g.12665464_12665465delinsTT | CA2499225366 | MAN2B1 | c.323_324delinsAA (p.Leu108Ter) n.305_306delinsAA c.220_221delinsAA (p.Cys74Asn) n.261_262delinsAA c.314_315delinsAA (p.Leu105Ter) c.350_351delinsAA (p.Leu117Ter) n.364_365delinsAA c.-696_-695delinsAA (n.-696_-695delinsAA) | ClinVar dbSNP |
19 | g.12665465A>C | CA404256978 | MAN2B1 | c.323T>G (p.Leu108Trp) n.305T>G c.220T>G (p.Cys74Gly) n.261T>G c.314T>G (p.Leu105Trp) c.350T>G (p.Leu117Trp) n.364T>G c.-696T>G (n.-696T>G) | gnomAD v4 |
19 | g.12665465A>G | CA404256983 | MAN2B1 | c.323T>C (p.Leu108Ser) n.305T>C c.220T>C (p.Cys74Arg) n.261T>C c.314T>C (p.Leu105Ser) c.350T>C (p.Leu117Ser) n.364T>C c.-696T>C (n.-696T>C) | |
19 | g.12665465A>T | CA404256986 | MAN2B1 | c.323T>A (p.Leu108Ter) n.305T>A c.220T>A (p.Cys74Ser) n.261T>A c.314T>A (p.Leu105Ter) c.350T>A (p.Leu117Ter) n.364T>A c.-696T>A (n.-696T>A) | |
19 | g.12665465_12665466insT | CA2695228143 | MAN2B1 | c.322_323insA (p.Leu108TyrfsTer?) n.304_305insA c.219_220insA (p.Cys74MetfsTer?) n.260_261insA c.313_314insA (p.Leu105TyrfsTer?) c.349_350insA (p.Leu117TyrfsTer?) n.363_364insA c.-697_-696insA (n.-697_-696insA) | |
19 | g.12665466A= | CA2323507723 | MAN2B1 | c.322T= (p.Leu108=) n.304T= c.219T= (p.Pro73=) n.260T= c.313T= (p.Leu105=) c.349T= (p.Leu117=) n.363T= c.-697T= (n.-697T=) | |
19 | g.12665466A>C | CA404256988 | MAN2B1 | c.322T>G (p.Leu108Val) n.304T>G c.219T>G (p.Pro73=) n.260T>G c.313T>G (p.Leu105Val) c.349T>G (p.Leu117Val) n.363T>G c.-697T>G (n.-697T>G) | |
19 | g.12665466A>G | CA305478907 | MAN2B1 | c.322T>C (p.Leu108=) n.304T>C c.219T>C (p.Pro73=) n.260T>C c.313T>C (p.Leu105=) c.349T>C (p.Leu117=) n.363T>C c.-697T>C (n.-697T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12665466A>T | CA404256999 | MAN2B1 | c.322T>A (p.Leu108Met) n.304T>A c.219T>A (p.Pro73=) n.260T>A c.313T>A (p.Leu105Met) c.349T>A (p.Leu117Met) n.363T>A c.-697T>A (n.-697T>A) | |
19 | g.12665467G>A | CA9226841 | MAN2B1 | c.321C>T (p.Ala107=) n.303C>T c.218C>T (p.Pro73Leu) n.259C>T c.312C>T (p.Ala104=) c.348C>T (p.Ala116=) n.362C>T c.-698C>T (n.-698C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.12665467G>C | CA404257010 | MAN2B1 | c.321C>G (p.Ala107=) n.303C>G c.218C>G (p.Pro73Arg) n.259C>G c.312C>G (p.Ala104=) c.348C>G (p.Ala116=) n.362C>G c.-698C>G (n.-698C>G) | |
19 | g.12665467G= | CA2323507724 | MAN2B1 | c.321C= (p.Ala107=) n.303C= c.218C= (p.Pro73=) n.259C= c.312C= (p.Ala104=) c.348C= (p.Ala116=) n.362C= c.-698C= (n.-698C=) | |
19 | g.12665467G>T | CA404257004 | MAN2B1 | c.321C>A (p.Ala107=) n.303C>A c.218C>A (p.Pro73His) n.259C>A c.312C>A (p.Ala104=) c.348C>A (p.Ala116=) n.362C>A c.-698C>A (n.-698C>A) | |
19 | g.12665468G>A | CA305478908 | MAN2B1 | c.320C>T (p.Ala107Val) n.302C>T c.217C>T (p.Pro73Ser) n.258C>T c.311C>T (p.Ala104Val) c.347C>T (p.Ala116Val) n.361C>T c.-699C>T (n.-699C>T) | dbSNP |
19 | g.12665468G>C | CA404257024 | MAN2B1 | c.320C>G (p.Ala107Gly) n.302C>G c.217C>G (p.Pro73Ala) n.258C>G c.311C>G (p.Ala104Gly) c.347C>G (p.Ala116Gly) n.361C>G c.-699C>G (n.-699C>G) | |
19 | g.12665468G= | CA2323507725 | MAN2B1 | c.320C= (p.Ala107=) n.302C= c.217C= (p.Pro73=) n.258C= c.311C= (p.Ala104=) c.347C= (p.Ala116=) n.361C= c.-699C= (n.-699C=) | |
19 | g.12665468G>T | CA404257026 | MAN2B1 | c.320C>A (p.Ala107Asp) n.302C>A c.217C>A (p.Pro73Thr) n.258C>A c.311C>A (p.Ala104Asp) c.347C>A (p.Ala116Asp) n.361C>A c.-699C>A (n.-699C>A) | |
19 | g.12665469C>A | CA404257030 | MAN2B1 | c.319G>T (p.Ala107Ser) n.301G>T c.216G>T (p.Leu72=) n.257G>T c.310G>T (p.Ala104Ser) c.346G>T (p.Ala116Ser) n.360G>T c.-700G>T (n.-700G>T) | |
19 | g.12665469C>G | CA404257032 | MAN2B1 | c.319G>C (p.Ala107Pro) n.301G>C c.216G>C (p.Leu72=) n.257G>C c.310G>C (p.Ala104Pro) c.346G>C (p.Ala116Pro) n.360G>C c.-700G>C (n.-700G>C) | |
19 | g.12665469C>T | CA404257035 | MAN2B1 | c.319G>A (p.Ala107Thr) n.301G>A c.216G>A (p.Leu72=) n.257G>A c.310G>A (p.Ala104Thr) c.346G>A (p.Ala116Thr) n.360G>A c.-700G>A (n.-700G>A) | |
19 | g.12665470A>C | CA404257044 | MAN2B1 | c.318T>G (p.Ser106=) n.300T>G c.215T>G (p.Leu72Arg) n.256T>G c.309T>G (p.Ser103=) c.345T>G (p.Ser115=) n.359T>G c.-701T>G (n.-701T>G) | |
19 | g.12665470A>G | CA404257043 | MAN2B1 | c.318T>C (p.Ser106=) n.300T>C c.215T>C (p.Leu72Pro) n.256T>C c.309T>C (p.Ser103=) c.345T>C (p.Ser115=) n.359T>C c.-701T>C (n.-701T>C) | |
19 | g.12665470A>T | CA404257039 | MAN2B1 | c.318T>A (p.Ser106=) n.300T>A c.215T>A (p.Leu72Gln) n.256T>A c.309T>A (p.Ser103=) c.345T>A (p.Ser115=) n.359T>A c.-701T>A (n.-701T>A) | |
19 | g.12665471G>A | CA404257049 | MAN2B1 | c.317C>T (p.Ser106Phe) n.299C>T c.214C>T (p.Leu72=) n.255C>T c.308C>T (p.Ser103Phe) c.344C>T (p.Ser115Phe) n.358C>T c.-702C>T (n.-702C>T) | |
19 | g.12665471G>C | CA404257052 | MAN2B1 | c.317C>G (p.Ser106Cys) n.299C>G c.214C>G (p.Leu72Val) n.255C>G c.308C>G (p.Ser103Cys) c.344C>G (p.Ser115Cys) n.358C>G c.-702C>G (n.-702C>G) | |
19 | g.12665471G>T | CA404257057 | MAN2B1 | c.317C>A (p.Ser106Tyr) n.299C>A c.214C>A (p.Leu72Met) n.255C>A c.308C>A (p.Ser103Tyr) c.344C>A (p.Ser115Tyr) n.358C>A c.-702C>A (n.-702C>A) | |
19 | g.12665472A>C | CA404257058 | MAN2B1 | c.316T>G (p.Ser106Ala) n.298T>G c.213T>G (p.Ser71=) n.254T>G c.307T>G (p.Ser103Ala) c.343T>G (p.Ser115Ala) n.357T>G c.-703T>G (n.-703T>G) | |
19 | g.12665472A>G | CA404257059 | MAN2B1 | c.316T>C (p.Ser106Pro) n.298T>C c.213T>C (p.Ser71=) n.254T>C c.307T>C (p.Ser103Pro) c.343T>C (p.Ser115Pro) n.357T>C c.-703T>C (n.-703T>C) | |
19 | g.12665472A>T | CA404257060 | MAN2B1 | c.316T>A (p.Ser106Thr) n.298T>A c.213T>A (p.Ser71=) n.254T>A c.307T>A (p.Ser103Thr) c.343T>A (p.Ser115Thr) n.357T>A c.-703T>A (n.-703T>A) | |
19 | g.12665473G>A | CA404257063 | MAN2B1 | c.315C>T (p.Ile105=) n.297C>T c.212C>T (p.Ser71Phe) n.253C>T c.306C>T (p.Ile102=) c.342C>T (p.Ile114=) n.356C>T c.-704C>T (n.-704C>T) | |
19 | g.12665473G>C | CA404257072 | MAN2B1 | c.315C>G (p.Ile105Met) n.297C>G c.212C>G (p.Ser71Cys) n.253C>G c.306C>G (p.Ile102Met) c.342C>G (p.Ile114Met) n.356C>G c.-704C>G (n.-704C>G) | |
19 | g.12665473G>T | CA404257066 | MAN2B1 | c.315C>A (p.Ile105=) n.297C>A c.212C>A (p.Ser71Tyr) n.253C>A c.306C>A (p.Ile102=) c.342C>A (p.Ile114=) n.356C>A c.-704C>A (n.-704C>A) |