| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.21575813_21575816dup | CA521899902 | ALPL | c.1078_1081dup (p.Gln361ArgfsTer?) n.347_350dup c.153_156dup c.847_850dup (p.Gln284ArgfsTer?) c.913_916dup (p.Gln306ArgfsTer?) c.922_925dup (p.Gln309ArgfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21575814G>A | CA338881186 | ALPL | c.1079G>A (p.Gly360Glu) n.348G>A c.154G>A c.848G>A (p.Gly283Glu) c.914G>A (p.Gly305Glu) c.923G>A (p.Gly308Glu) | |
| 1 | g.21575814G>C | CA338881187 | ALPL | c.1079G>C (p.Gly360Ala) n.348G>C c.154G>C c.848G>C (p.Gly283Ala) c.914G>C (p.Gly305Ala) c.923G>C (p.Gly308Ala) | |
| 1 | g.21575814G>T | CA338881188 | ALPL | c.1079G>T (p.Gly360Val) n.348G>T c.154G>T c.848G>T (p.Gly283Val) c.914G>T (p.Gly305Val) c.923G>T (p.Gly308Val) | |
| 1 | g.21575823_21575826dup | CA16040722 | ALPL | c.1088_1091dup (p.Ser364ArgfsTer?) n.357_360dup c.163_166dup c.857_860dup (p.Ser287ArgfsTer?) c.923_926dup (p.Ser309ArgfsTer?) c.932_935dup (p.Ser312ArgfsTer?) | ClinVar dbSNP |
| 1 | g.21575815G>A | CA416533114 | ALPL | c.1080G>A (p.Gly360=) n.349G>A c.155G>A c.849G>A (p.Gly283=) c.915G>A (p.Gly305=) c.924G>A (p.Gly308=) | gnomAD v4 |
| 1 | g.21575815G>C | CA416533117 | ALPL | c.1080G>C (p.Gly360=) n.349G>C c.155G>C c.849G>C (p.Gly283=) c.915G>C (p.Gly305=) c.924G>C (p.Gly308=) | |
| 1 | g.21575815G>T | CA416533115 | ALPL | c.1080G>T (p.Gly360=) n.349G>T c.155G>T c.849G>T (p.Gly283=) c.915G>T (p.Gly305=) c.924G>T (p.Gly308=) | |
| 1 | g.21575816C>A | CA338881190 | ALPL | c.1081C>A (p.Gln361Lys) n.350C>A c.156C>A c.850C>A (p.Gln284Lys) c.916C>A (p.Gln306Lys) c.925C>A (p.Gln309Lys) | |
| 1 | g.21575816C>G | CA338881189 | ALPL | c.1081C>G (p.Gln361Glu) n.350C>G c.156C>G c.850C>G (p.Gln284Glu) c.916C>G (p.Gln306Glu) c.925C>G (p.Gln309Glu) | |
| 1 | g.21575816C>T | CA338881191 | ALPL | c.1081C>T (p.Gln361Ter) n.350C>T c.156C>T c.850C>T (p.Gln284Ter) c.916C>T (p.Gln306Ter) c.925C>T (p.Gln309Ter) | |
| 1 | g.21575817A= | CA1158019308 | ALPL | c.1082A= (p.Gln361=) n.351A= c.157A= c.851A= (p.Gln284=) c.917A= (p.Gln306=) c.926A= (p.Gln309=) | |
| 1 | g.21575817A>C | CA338881192 | ALPL | c.1082A>C (p.Gln361Pro) n.351A>C c.157A>C c.851A>C (p.Gln284Pro) c.917A>C (p.Gln306Pro) c.926A>C (p.Gln309Pro) | |
| 1 | g.21575817A>G | CA338881193 | ALPL | c.1082A>G (p.Gln361Arg) n.351A>G c.157A>G c.851A>G (p.Gln284Arg) c.917A>G (p.Gln306Arg) c.926A>G (p.Gln309Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21575817A>T | CA338881194 | ALPL | c.1082A>T (p.Gln361Leu) n.351A>T c.157A>T c.851A>T (p.Gln284Leu) c.917A>T (p.Gln306Leu) c.926A>T (p.Gln309Leu) | |
| 1 | g.21575818G>A | CA416533125 | ALPL | c.1083G>A (p.Gln361=) n.352G>A c.158G>A c.852G>A (p.Gln284=) c.918G>A (p.Gln306=) c.927G>A (p.Gln309=) | gnomAD v4 |
| 1 | g.21575818G>C | CA338881195 | ALPL | c.1083G>C (p.Gln361His) n.352G>C c.158G>C c.852G>C (p.Gln284His) c.918G>C (p.Gln306His) c.927G>C (p.Gln309His) | |
| 1 | g.21575818G>T | CA338881196 | ALPL | c.1083G>T (p.Gln361His) n.352G>T c.158G>T c.852G>T (p.Gln284His) c.918G>T (p.Gln306His) c.927G>T (p.Gln309His) | |
| 1 | g.21575819G>A | CA338881197 | ALPL | c.1084G>A (p.Ala362Thr) n.353G>A c.159G>A c.853G>A (p.Ala285Thr) c.919G>A (p.Ala307Thr) c.928G>A (p.Ala310Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21575819G>C | CA338881198 | ALPL | c.1084G>C (p.Ala362Pro) n.353G>C c.159G>C c.853G>C (p.Ala285Pro) c.919G>C (p.Ala307Pro) c.928G>C (p.Ala310Pro) | |
| 1 | g.21575819G= | CA1158019309 | ALPL | c.1084G= (p.Ala362=) n.353G= c.159G= c.853G= (p.Ala285=) c.919G= (p.Ala307=) c.928G= (p.Ala310=) | |
| 1 | g.21575819G>T | CA338881199 | ALPL | c.1084G>T (p.Ala362Ser) n.353G>T c.159G>T c.853G>T (p.Ala285Ser) c.919G>T (p.Ala307Ser) c.928G>T (p.Ala310Ser) | gnomAD v4 |
| 1 | g.21575820C>A | CA338881200 | ALPL | c.1085C>A (p.Ala362Glu) n.354C>A c.160C>A c.854C>A (p.Ala285Glu) c.920C>A (p.Ala307Glu) c.929C>A (p.Ala310Glu) | |
| 1 | g.21575820C= | CA1158019310 | ALPL | c.1085C= (p.Ala362=) n.354C= c.160C= c.854C= (p.Ala285=) c.920C= (p.Ala307=) c.929C= (p.Ala310=) | |
| 1 | g.21575820C>G | CA338881201 | ALPL | c.1085C>G (p.Ala362Gly) n.354C>G c.160C>G c.854C>G (p.Ala285Gly) c.920C>G (p.Ala307Gly) c.929C>G (p.Ala310Gly) | dbSNP |
| 1 | g.21575820C>T | CA338881202 | ALPL | c.1085C>T (p.Ala362Val) n.354C>T c.160C>T c.854C>T (p.Ala285Val) c.920C>T (p.Ala307Val) c.929C>T (p.Ala310Val) | |
| 1 | g.21575821A>C | CA416533137 | ALPL | c.1086A>C (p.Ala362=) n.355A>C c.161A>C c.855A>C (p.Ala285=) c.921A>C (p.Ala307=) c.930A>C (p.Ala310=) | |
| 1 | g.21575821A>G | CA416533139 | ALPL | c.1086A>G (p.Ala362=) n.355A>G c.161A>G c.855A>G (p.Ala285=) c.921A>G (p.Ala307=) c.930A>G (p.Ala310=) | |
| 1 | g.21575821A>T | CA416533135 | ALPL | c.1086A>T (p.Ala362=) n.355A>T c.161A>T c.855A>T (p.Ala285=) c.921A>T (p.Ala307=) c.930A>T (p.Ala310=) | |
| 1 | g.21575822G>A | CA338881205 | ALPL | c.1087G>A (p.Gly363Ser) n.356G>A c.162G>A c.856G>A (p.Gly286Ser) c.922G>A (p.Gly308Ser) c.931G>A (p.Gly311Ser) | |
| 1 | g.21575822G>C | CA338881204 | ALPL | c.1087G>C (p.Gly363Arg) n.356G>C c.162G>C c.856G>C (p.Gly286Arg) c.922G>C (p.Gly308Arg) c.931G>C (p.Gly311Arg) | |
| 1 | g.21575822G>T | CA338881203 | ALPL | c.1087G>T (p.Gly363Cys) n.356G>T c.162G>T c.856G>T (p.Gly286Cys) c.922G>T (p.Gly308Cys) c.931G>T (p.Gly311Cys) | |
| 1 | g.21575823G>A | CA338881206 | ALPL | c.1088G>A (p.Gly363Asp) n.357G>A c.163G>A c.857G>A (p.Gly286Asp) c.923G>A (p.Gly308Asp) c.932G>A (p.Gly311Asp) | |
| 1 | g.21575823G>C | CA338881207 | ALPL | c.1088G>C (p.Gly363Ala) n.357G>C c.163G>C c.857G>C (p.Gly286Ala) c.923G>C (p.Gly308Ala) c.932G>C (p.Gly311Ala) | |
| 1 | g.21575823G>T | CA338881208 | ALPL | c.1088G>T (p.Gly363Val) n.357G>T c.163G>T c.857G>T (p.Gly286Val) c.923G>T (p.Gly308Val) c.932G>T (p.Gly311Val) | |
| 1 | g.21575824C>A | CA416533149 | ALPL | c.1089C>A (p.Gly363=) n.358C>A c.164C>A c.858C>A (p.Gly286=) c.924C>A (p.Gly308=) c.933C>A (p.Gly311=) | COSMIC |
| 1 | g.21575824C>G | CA416533152 | ALPL | c.1089C>G (p.Gly363=) n.358C>G c.164C>G c.858C>G (p.Gly286=) c.924C>G (p.Gly308=) c.933C>G (p.Gly311=) | |
| 1 | g.21575824C>T | CA416533153 | ALPL | c.1089C>T (p.Gly363=) n.358C>T c.164C>T c.858C>T (p.Gly286=) c.924C>T (p.Gly308=) c.933C>T (p.Gly311=) | ClinVar |
| 1 | g.21575825A>C | CA338881209 | ALPL | c.1090A>C (p.Ser364Arg) n.359A>C c.165A>C c.859A>C (p.Ser287Arg) c.925A>C (p.Ser309Arg) c.934A>C (p.Ser312Arg) | |
| 1 | g.21575825A>G | CA338881210 | ALPL | c.1090A>G (p.Ser364Gly) n.359A>G c.165A>G c.859A>G (p.Ser287Gly) c.925A>G (p.Ser309Gly) c.934A>G (p.Ser312Gly) | |
| 1 | g.21575825A>T | CA338881211 | ALPL | c.1090A>T (p.Ser364Cys) n.359A>T c.165A>T c.859A>T (p.Ser287Cys) c.925A>T (p.Ser309Cys) c.934A>T (p.Ser312Cys) | |
| 1 | g.21575826G>A | CA338881212 | ALPL | c.1091G>A (p.Ser364Asn) n.360G>A c.166G>A c.860G>A (p.Ser287Asn) c.926G>A (p.Ser309Asn) c.935G>A (p.Ser312Asn) | |
| 1 | g.21575826G>C | CA338881213 | ALPL | c.1091G>C (p.Ser364Thr) n.360G>C c.166G>C c.860G>C (p.Ser287Thr) c.926G>C (p.Ser309Thr) c.935G>C (p.Ser312Thr) | |
| 1 | g.21575826G>T | CA338881214 | ALPL | c.1091G>T (p.Ser364Ile) n.360G>T c.166G>T c.860G>T (p.Ser287Ile) c.926G>T (p.Ser309Ile) c.935G>T (p.Ser312Ile) | |
| 1 | g.21575827C>A | CA338881215 | ALPL | c.1092C>A (p.Ser364Arg) n.361C>A c.167C>A c.861C>A (p.Ser287Arg) c.927C>A (p.Ser309Arg) c.936C>A (p.Ser312Arg) | |
| 1 | g.21575827C= | CA1158019311 | ALPL | c.1092C= (p.Ser364=) n.361C= c.167C= c.861C= (p.Ser287=) c.927C= (p.Ser309=) c.936C= (p.Ser312=) | |
| 1 | g.21575827C>G | CA338881216 | ALPL | c.1092C>G (p.Ser364Arg) n.361C>G c.167C>G c.861C>G (p.Ser287Arg) c.927C>G (p.Ser309Arg) c.936C>G (p.Ser312Arg) | |
| 1 | g.21575827C>T | CA416533168 | ALPL | c.1092C>T (p.Ser364=) n.361C>T c.167C>T c.861C>T (p.Ser287=) c.927C>T (p.Ser309=) c.936C>T (p.Ser312=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21575828T>A | CA338881218 | ALPL | c.1093T>A (p.Leu365Met) n.362T>A c.168T>A c.862T>A (p.Leu288Met) c.928T>A (p.Leu310Met) c.937T>A (p.Leu313Met) | |
| 1 | g.21575828T>C | CA416533173 | ALPL | c.1093T>C (p.Leu365=) n.362T>C c.168T>C c.862T>C (p.Leu288=) c.928T>C (p.Leu310=) c.937T>C (p.Leu313=) | dbSNP |