| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.12665370G>A | CA10648318 | MAN2B1 | c.418C>T (p.Arg140Ter) n.400C>T c.315C>T (p.Cys105=) n.356C>T c.409C>T (p.Arg137Ter) c.445C>T (p.Arg149Ter) n.459C>T c.-601C>T (n.-601C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.12665370G>C | CA404255948 | MAN2B1 | c.418C>G (p.Arg140Gly) n.400C>G c.315C>G (p.Cys105Trp) n.356C>G c.409C>G (p.Arg137Gly) c.445C>G (p.Arg149Gly) n.459C>G c.-601C>G (n.-601C>G) | |
| 19 | g.12665370G= | CA2323507680 | MAN2B1 | c.418C= (p.Arg140=) n.400C= c.315C= (p.Cys105=) n.356C= c.409C= (p.Arg137=) c.445C= (p.Arg149=) n.459C= c.-601C= (n.-601C=) | |
| 19 | g.12665370G>T | CA9226822 | MAN2B1 | c.418C>A (p.Arg140=) n.400C>A c.315C>A (p.Cys105Ter) n.356C>A c.409C>A (p.Arg137=) c.445C>A (p.Arg149=) n.459C>A c.-601C>A (n.-601C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.12665371C>A | CA404255956 | MAN2B1 | c.417G>T (p.Val139=) n.399G>T c.314G>T (p.Cys105Phe) n.355G>T c.408G>T (p.Val136=) c.444G>T (p.Val148=) n.458G>T c.-602G>T (n.-602G>T) | |
| 19 | g.12665371C>G | CA404255959 | MAN2B1 | c.417G>C (p.Val139=) n.399G>C c.314G>C (p.Cys105Ser) n.355G>C c.408G>C (p.Val136=) c.444G>C (p.Val148=) n.458G>C c.-602G>C (n.-602G>C) | |
| 19 | g.12665371C>T | CA404255976 | MAN2B1 | c.417G>A (p.Val139=) n.399G>A c.314G>A (p.Cys105Tyr) n.355G>A c.408G>A (p.Val136=) c.444G>A (p.Val148=) n.458G>A c.-602G>A (n.-602G>A) | |
| 19 | g.12665372A>C | CA404255979 | MAN2B1 | c.416T>G (p.Val139Gly) n.398T>G c.313T>G (p.Cys105Gly) n.354T>G c.407T>G (p.Val136Gly) c.443T>G (p.Val148Gly) n.457T>G c.-603T>G (n.-603T>G) | |
| 19 | g.12665372A>G | CA404255983 | MAN2B1 | c.416T>C (p.Val139Ala) n.398T>C c.313T>C (p.Cys105Arg) n.354T>C c.407T>C (p.Val136Ala) c.443T>C (p.Val148Ala) n.457T>C c.-603T>C (n.-603T>C) | |
| 19 | g.12665372A>T | CA404255984 | MAN2B1 | c.416T>A (p.Val139Glu) n.398T>A c.313T>A (p.Cys105Ser) n.354T>A c.407T>A (p.Val136Glu) c.443T>A (p.Val148Glu) n.457T>A c.-603T>A (n.-603T>A) | |
| 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 |