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