| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |