| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.37065512A>G | CA2514535151 | PIGP | c.*70T>C (n.*70T>C) n.424T>C n.822T>C | gnomAD v4 |
| 21 | g.37065513T>C | CA2654449962 | PIGP | c.*69A>G (n.*69A>G) n.423A>G n.821A>G | gnomAD v4 |
| 21 | g.37065513T>G | CA2817840897 | PIGP | c.*69A>C (n.*69A>C) n.423A>C n.821A>C | |
| 21 | g.37065514G>T | CA2654449963 | PIGP | c.*68C>A (n.*68C>A) n.422C>A n.820C>A | gnomAD v4 |
| 21 | g.37065515del | CA2577487416 | PIGP | c.*68del (n.*68del) n.422del n.820del | |
| 21 | g.37065515G>A | CA2654449964 | PIGP | c.*67C>T (n.*67C>T) n.421C>T n.819C>T | gnomAD v4 |
| 21 | g.37065515G>T | CA2654449965 | PIGP | c.*67C>A (n.*67C>A) n.421C>A n.819C>A | gnomAD v4 |
| 21 | g.37065517C>A | CA2654449966 | PIGP | c.*65G>T (n.*65G>T) n.419G>T n.817G>T | gnomAD v4 |
| 21 | g.37065518A>G | CA2654449967 | PIGP | c.*64T>C (n.*64T>C) n.418T>C n.816T>C | gnomAD v4 |
| 21 | g.37065521A>C | CA2577487417 | PIGP | c.*61T>G (n.*61T>G) n.415T>G n.813T>G | |
| 21 | g.37065523T>C | CA2388296142 | PIGP | c.*59A>G (n.*59A>G) n.413A>G n.811A>G | dbSNP gnomAD v4 |
| 21 | g.37065523T= | CA2388296141 | PIGP | c.*59A= (n.*59A=) n.413A= n.811A= | |
| 21 | g.37065524A>G | CA2654449968 | PIGP | c.*58T>C (n.*58T>C) n.412T>C n.810T>C | gnomAD v4 |
| 21 | g.37065525T>A | CA2654449969 | PIGP | c.*57A>T (n.*57A>T) n.411A>T n.809A>T | gnomAD v4 |
| 21 | g.37065525T>C | CA2654449970 | PIGP | c.*57A>G (n.*57A>G) n.411A>G n.809A>G | gnomAD v4 |
| 21 | g.37065527A= | CA2388296143 | PIGP | c.*55T= (n.*55T=) n.409T= n.807T= | |
| 21 | g.37065527A>G | CA749061282 | PIGP | c.*55T>C (n.*55T>C) n.409T>C n.807T>C | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.37065528T>C | CA2737786240 | PIGP | c.*54A>G (n.*54A>G) n.408A>G n.806A>G | dbSNP |
| 21 | g.37065529G>C | CA2737786259 | PIGP | c.*53C>G (n.*53C>G) n.407C>G n.805C>G | dbSNP |
| 21 | g.37065529G>T | CA2654449971 | PIGP | c.*53C>A (n.*53C>A) n.407C>A n.805C>A | gnomAD v4 |
| 21 | g.37065530G>A | CA2654449972 | PIGP | c.*52C>T (n.*52C>T) n.406C>T n.804C>T | gnomAD v4 |
| 21 | g.37065530G>T | CA2654449973 | PIGP | c.*52C>A (n.*52C>A) n.406C>A n.804C>A | gnomAD v4 |
| 21 | g.37065531C= | CA2388296144 | PIGP | c.*51G= (n.*51G=) n.405G= n.803G= | |
| 21 | g.37065531C>T | CA10021010 | PIGP | c.*51G>A (n.*51G>A) n.405G>A n.803G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.37065531_37065532delinsCA | CA2388296145 | PIGP | c.*50_*51delinsTG (n.*50_*51delinsTG) n.404_405delinsTG n.802_803delinsTG | |
| 21 | g.37065536del | CA749061285 | PIGP | c.*50del (n.*50del) n.404del n.802del | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.37065533A>G | CA2654449974 | PIGP | c.*49T>C (n.*49T>C) n.403T>C n.801T>C | gnomAD v4 |
| 21 | g.37065537C>A | CA2388296147 | PIGP | c.*45G>T (n.*45G>T) n.399G>T n.797G>T | dbSNP gnomAD v4 |
| 21 | g.37065537C= | CA2388296146 | PIGP | c.*45G= (n.*45G=) n.399G= n.797G= | |
| 21 | g.37065537C>T | CA10021011 | PIGP | c.*45G>A (n.*45G>A) n.399G>A n.797G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.37065537_37065539delinsCTT | CA2388296148 | PIGP | c.*43_*45delinsAAG (n.*43_*45delinsAAG) n.397_399delinsAAG n.795_797delinsAAG | |
| 21 | g.37065538_37065539del | CA637791396 | PIGP | c.*43_*44del (n.*43_*44del) n.397_398del n.795_796del | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.37065547_37065550del | CA2546751732 | PIGP | c.*39_*42del (n.*39_*42del) n.393_396del n.791_794del | |
| 21 | g.37065541T>C | CA2654449975 | PIGP | c.*41A>G (n.*41A>G) n.395A>G n.793A>G | gnomAD v4 |
| 21 | g.37065541T>G | CA320402013 | PIGP | c.*41A>C (n.*41A>C) n.395A>C n.793A>C | dbSNP gnomAD v4 |
| 21 | g.37065541T= | CA2388296149 | PIGP | c.*41A= (n.*41A=) n.395A= n.793A= | |
| 21 | g.37065542A>C | CA2504623262 | PIGP | c.*40T>G (n.*40T>G) n.394T>G n.792T>G | gnomAD v4 |
| 21 | g.37065543A= | CA2388296150 | PIGP | c.*39T= (n.*39T=) n.393T= n.791T= | |
| 21 | g.37065543A>C | CA749061292 | PIGP | c.*39T>G (n.*39T>G) n.393T>G n.791T>G | dbSNP gnomAD v4 |
| 21 | g.37065543A>G | CA2654449976 | PIGP | c.*39T>C (n.*39T>C) n.393T>C n.791T>C | gnomAD v4 |
| 21 | g.37065547A>C | CA2654449977 | PIGP | c.*35T>G (n.*35T>G) n.389T>G n.787T>G | gnomAD v4 |
| 21 | g.37065547A>G | CA2654449978 | PIGP | c.*35T>C (n.*35T>C) n.389T>C n.787T>C | gnomAD v4 |
| 21 | g.37065551C= | CA2388296151 | PIGP | c.*31G= (n.*31G=) n.385G= n.783G= | |
| 21 | g.37065551C>T | CA10021012 | PIGP | c.*31G>A (n.*31G>A) n.385G>A n.783G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.37065552G>A | CA10021013 | PIGP | c.*30C>T (n.*30C>T) n.384C>T n.782C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.37065552G= | CA2388296152 | PIGP | c.*30C= (n.*30C=) n.384C= n.782C= | |
| 21 | g.37065554G>A | CA749061297 | PIGP | c.*28C>T (n.*28C>T) n.382C>T n.780C>T | dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.37065554G= | CA2388296153 | PIGP | c.*28C= (n.*28C=) n.382C= n.780C= | |
| 21 | g.37065558G>T | CA2654449979 | PIGP | c.*24C>A (n.*24C>A) n.378C>A n.776C>A | gnomAD v4 |
| 21 | g.37065559G>A | CA2654449980 | PIGP | c.*23C>T (n.*23C>T) n.377C>T n.775C>T | gnomAD v4 |
| 21 | g.37065560T>A | CA2654449981 | PIGP | c.*22A>T (n.*22A>T) n.376A>T n.774A>T | gnomAD v4 |
| 21 | g.37065560T>C | CA2737786263 | PIGP | c.*22A>G (n.*22A>G) n.376A>G n.774A>G | dbSNP |
| 21 | g.37065561G>A | CA2654449982 | PIGP | c.*21C>T (n.*21C>T) n.375C>T n.773C>T | gnomAD v4 |
| 21 | g.37065566T>C | CA637791397 | PIGP | c.*16A>G (n.*16A>G) n.370A>G n.768A>G | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.37065566T= | CA2388296154 | PIGP | c.*16A= (n.*16A=) n.370A= n.768A= | |
| 21 | g.37065567A>G | CA2654449983 | PIGP | c.*15T>C (n.*15T>C) n.369T>C n.767T>C | gnomAD v4 |
| 21 | g.37065568T>C | CA2654449984 | PIGP | c.*14A>G (n.*14A>G) n.368A>G n.766A>G | gnomAD v4 |
| 21 | g.37065569G>A | CA10021014 | PIGP | c.*13C>T (n.*13C>T) n.367C>T n.765C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.37065569G= | CA2388296155 | PIGP | c.*13C= (n.*13C=) n.367C= n.765C= | |
| 21 | g.37065572T>A | CA2817840898 | PIGP | c.*10A>T (n.*10A>T) n.364A>T n.762A>T | |
| 21 | g.37065573A= | CA2388296156 | PIGP | c.*9T= (n.*9T=) n.363T= n.761T= | |
| 21 | g.37065573A>C | CA10021015 | PIGP | c.*9T>G (n.*9T>G) n.363T>G n.761T>G | dbSNP ExAC gnomAD v2 |
| 21 | g.37065578_37065579del | CA2817840899 | PIGP | c.*8_*9del (n.*8_*9del) n.362_363del n.760_761del | |
| 21 | g.37065574C>A | CA2654449985 | PIGP | c.*8G>T (n.*8G>T) n.362G>T n.760G>T | gnomAD v4 |
| 21 | g.37065575A>G | CA2654449986 | PIGP | c.*7T>C (n.*7T>C) n.361T>C n.759T>C | gnomAD v4 |
| 21 | g.37065576C>T | CA2654449987 | PIGP | c.*6G>A (n.*6G>A) n.360G>A n.758G>A | gnomAD v4 |
| 21 | g.37065578C= | CA2388296158 | PIGP | c.*4G= (n.*4G=) n.358G= n.756G= | |
| 21 | g.37065578C>G | CA2388296157 | PIGP | c.*4G>C (n.*4G>C) n.358G>C n.756G>C | dbSNP gnomAD v4 |
| 21 | g.37065578C>T | CA2654449988 | PIGP | c.*4G>A (n.*4G>A) n.358G>A n.756G>A | gnomAD v4 |
| 21 | g.37065579A= | CA2388296159 | PIGP | c.*3T= (n.*3T=) n.357T= n.755T= | |
| 21 | g.37065579A>C | CA2388296160 | PIGP | c.*3T>G (n.*3T>G) n.357T>G n.755T>G | dbSNP |
| 21 | g.37065579A>G | CA2654449989 | PIGP | c.*3T>C (n.*3T>C) n.357T>C n.755T>C | gnomAD v4 |
| 21 | g.37065582T>A | CA409917918 | PIGP | c.405A>T (p.Ter135Cys) n.354A>T c.327A>T (p.Ter109Cys) c.477A>T (p.Ter159Cys) n.752A>T | |
| 21 | g.37065582T>C | CA409917921 | PIGP | c.405A>G (p.Ter135Trp) n.354A>G c.327A>G (p.Ter109Trp) c.477A>G (p.Ter159Trp) n.752A>G | |
| 21 | g.37065582T>G | CA409917924 | PIGP | c.405A>C (p.Ter135Cys) n.354A>C c.327A>C (p.Ter109Cys) c.477A>C (p.Ter159Cys) n.752A>C | |
| 21 | g.37065583C>A | CA409917934 | PIGP | c.404G>T (p.Ter135Leu) n.353G>T c.326G>T (p.Ter109Leu) c.476G>T (p.Ter159Leu) n.751G>T | gnomAD v4 |
| 21 | g.37065583C= | CA2388296161 | PIGP | c.404G= (p.Ter135=) n.353G= c.326G= (p.Ter109=) c.476G= (p.Ter159=) n.751G= | |
| 21 | g.37065583C>G | CA409917931 | PIGP | c.404G>C (p.Ter135Ser) n.353G>C c.326G>C (p.Ter109Ser) c.476G>C (p.Ter159Ser) n.751G>C | |
| 21 | g.37065583C>T | CA10021016 | PIGP | c.404G>A (p.Ter135=) n.353G>A c.326G>A (p.Ter109=) c.476G>A (p.Ter159=) n.751G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.37065584A>C | CA409917937 | PIGP | c.403T>G (p.Ter135Gly) n.352T>G c.325T>G (p.Ter109Gly) c.475T>G (p.Ter159Gly) n.750T>G | |
| 21 | g.37065584A>G | CA409917941 | PIGP | c.403T>C (p.Ter135Arg) n.352T>C c.325T>C (p.Ter109Arg) c.475T>C (p.Ter159Arg) n.750T>C | |
| 21 | g.37065584A>T | CA409917943 | PIGP | c.403T>A (p.Ter135Arg) n.352T>A c.325T>A (p.Ter109Arg) c.475T>A (p.Ter159Arg) n.750T>A | |
| 21 | g.37065585G>A | CA512083116 | PIGP | c.402C>T (p.Asn134=) n.351C>T c.324C>T (p.Asn108=) c.474C>T (p.Asn158=) n.749C>T | dbSNP |
| 21 | g.37065585G>C | CA409917947 | PIGP | c.402C>G (p.Asn134Lys) n.351C>G c.324C>G (p.Asn108Lys) c.474C>G (p.Asn158Lys) n.749C>G | |
| 21 | g.37065585G= | CA2388296162 | PIGP | c.402C= (p.Asn134=) n.351C= c.324C= (p.Asn108=) c.474C= (p.Asn158=) n.749C= | |
| 21 | g.37065585G>T | CA409917949 | PIGP | c.402C>A (p.Asn134Lys) n.351C>A c.324C>A (p.Asn108Lys) c.474C>A (p.Asn158Lys) n.749C>A | |
| 21 | g.37065586T>A | CA409917955 | PIGP | c.401A>T (p.Asn134Ile) n.350A>T c.323A>T (p.Asn108Ile) c.473A>T (p.Asn158Ile) n.748A>T | |
| 21 | g.37065586T>C | CA10021017 | PIGP | c.401A>G (p.Asn134Ser) n.350A>G c.323A>G (p.Asn108Ser) c.473A>G (p.Asn158Ser) n.748A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.37065586T>G | CA409917959 | PIGP | c.401A>C (p.Asn134Thr) n.350A>C c.323A>C (p.Asn108Thr) c.473A>C (p.Asn158Thr) n.748A>C | |
| 21 | g.37065586T= | CA2388296163 | PIGP | c.401A= (p.Asn134=) n.350A= c.323A= (p.Asn108=) c.473A= (p.Asn158=) n.748A= | |
| 21 | g.37065590del | CA2654449990 | PIGP | c.401del (p.Asn134ThrfsTer29) n.350del c.323del (p.Asn108ThrfsTer29) c.473del (p.Asn158ThrfsTer29) n.748del | gnomAD v4 |
| 21 | g.37065587T>A | CA409917969 | PIGP | c.400A>T (p.Asn134Tyr) n.349A>T c.322A>T (p.Asn108Tyr) c.472A>T (p.Asn158Tyr) n.747A>T | |
| 21 | g.37065587T>C | CA409917971 | PIGP | c.400A>G (p.Asn134Asp) n.349A>G c.322A>G (p.Asn108Asp) c.472A>G (p.Asn158Asp) n.747A>G | |
| 21 | g.37065587T>G | CA409917973 | PIGP | c.400A>C (p.Asn134His) n.349A>C c.322A>C (p.Asn108His) c.472A>C (p.Asn158His) n.747A>C | |
| 21 | g.37065588T>A | CA409917976 | PIGP | c.399A>T (p.Lys133Asn) n.348A>T c.321A>T (p.Lys107Asn) c.471A>T (p.Lys157Asn) n.746A>T | |
| 21 | g.37065588T>C | CA512083117 | PIGP | c.399A>G (p.Lys133=) n.348A>G c.321A>G (p.Lys107=) c.471A>G (p.Lys157=) n.746A>G | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.37065588T>G | CA409917979 | PIGP | c.399A>C (p.Lys133Asn) n.348A>C c.321A>C (p.Lys107Asn) c.471A>C (p.Lys157Asn) n.746A>C | |
| 21 | g.37065588T= | CA2388296164 | PIGP | c.399A= (p.Lys133=) n.348A= c.321A= (p.Lys107=) c.471A= (p.Lys157=) n.746A= | |
| 21 | g.37065589T>A | CA409917985 | PIGP | c.398A>T (p.Lys133Ile) n.347A>T c.320A>T (p.Lys107Ile) c.470A>T (p.Lys157Ile) n.745A>T | |
| 21 | g.37065589T>C | CA409917987 | PIGP | c.398A>G (p.Lys133Arg) n.347A>G c.320A>G (p.Lys107Arg) c.470A>G (p.Lys157Arg) n.745A>G | |
| 21 | g.37065589T>G | CA409917982 | PIGP | c.398A>C (p.Lys133Thr) n.347A>C c.320A>C (p.Lys107Thr) c.470A>C (p.Lys157Thr) n.745A>C | |
| 21 | g.37065590T>A | CA409917993 | PIGP | c.397A>T (p.Lys133Ter) n.346A>T c.319A>T (p.Lys107Ter) c.469A>T (p.Lys157Ter) n.744A>T | gnomAD v4 |
| 21 | g.37065590T>C | CA409917991 | PIGP | c.397A>G (p.Lys133Glu) n.346A>G c.319A>G (p.Lys107Glu) c.469A>G (p.Lys157Glu) n.744A>G | |
| 21 | g.37065590T>G | CA409917992 | PIGP | c.397A>C (p.Lys133Gln) n.346A>C c.319A>C (p.Lys107Gln) c.469A>C (p.Lys157Gln) n.744A>C | |
| 21 | g.37065591G>A | CA512083120 | PIGP | c.396C>T (p.Thr132=) n.345C>T c.318C>T (p.Thr106=) c.468C>T (p.Thr156=) n.743C>T | dbSNP |
| 21 | g.37065591G>C | CA512083118 | PIGP | c.396C>G (p.Thr132=) n.345C>G c.318C>G (p.Thr106=) c.468C>G (p.Thr156=) n.743C>G | |
| 21 | g.37065591G= | CA2388296165 | PIGP | c.396C= (p.Thr132=) n.345C= c.318C= (p.Thr106=) c.468C= (p.Thr156=) n.743C= | |
| 21 | g.37065591G>T | CA512083119 | PIGP | c.396C>A (p.Thr132=) n.345C>A c.318C>A (p.Thr106=) c.468C>A (p.Thr156=) n.743C>A | |
| 21 | g.37065592G>A | CA409917999 | PIGP | c.395C>T (p.Thr132Ile) n.344C>T c.317C>T (p.Thr106Ile) c.467C>T (p.Thr156Ile) n.742C>T | |
| 21 | g.37065592G>C | CA409918002 | PIGP | c.395C>G (p.Thr132Ser) n.344C>G c.317C>G (p.Thr106Ser) c.467C>G (p.Thr156Ser) n.742C>G | |
| 21 | g.37065592G>T | CA409918003 | PIGP | c.395C>A (p.Thr132Asn) n.344C>A c.317C>A (p.Thr106Asn) c.467C>A (p.Thr156Asn) n.742C>A | |
| 21 | g.37065593T>A | CA409918006 | PIGP | c.394A>T (p.Thr132Ser) n.343A>T c.316A>T (p.Thr106Ser) c.466A>T (p.Thr156Ser) n.741A>T | |
| 21 | g.37065593T>C | CA409918008 | PIGP | c.394A>G (p.Thr132Ala) n.343A>G c.316A>G (p.Thr106Ala) c.466A>G (p.Thr156Ala) n.741A>G | dbSNP gnomAD v4 |
| 21 | g.37065593T>G | CA409918010 | PIGP | c.394A>C (p.Thr132Pro) n.343A>C c.316A>C (p.Thr106Pro) c.466A>C (p.Thr156Pro) n.741A>C | |
| 21 | g.37065593T= | CA2388296166 | PIGP | c.394A= (p.Thr132=) n.343A= c.316A= (p.Thr106=) c.466A= (p.Thr156=) n.741A= | |
| 21 | g.37065594G>A | CA512083121 | PIGP | c.393C>T (p.Tyr131=) n.342C>T c.315C>T (p.Tyr105=) c.465C>T (p.Tyr155=) n.740C>T | |
| 21 | g.37065594G>C | CA409918013 | PIGP | c.393C>G (p.Tyr131Ter) n.342C>G c.315C>G (p.Tyr105Ter) c.465C>G (p.Tyr155Ter) n.740C>G | |
| 21 | g.37065594G>T | CA409918015 | PIGP | c.393C>A (p.Tyr131Ter) n.342C>A c.315C>A (p.Tyr105Ter) c.465C>A (p.Tyr155Ter) n.740C>A | gnomAD v4 |
| 21 | g.37065595T>A | CA409918018 | PIGP | c.392A>T (p.Tyr131Phe) n.341A>T c.314A>T (p.Tyr105Phe) c.464A>T (p.Tyr155Phe) n.739A>T | |
| 21 | g.37065595T>C | CA409918020 | PIGP | c.392A>G (p.Tyr131Cys) n.341A>G c.314A>G (p.Tyr105Cys) c.464A>G (p.Tyr155Cys) n.739A>G | |
| 21 | g.37065595T>G | CA409918022 | PIGP | c.392A>C (p.Tyr131Ser) n.341A>C c.314A>C (p.Tyr105Ser) c.464A>C (p.Tyr155Ser) n.739A>C | |
| 21 | g.37065595_37065596insCCC | CA2654449991 | PIGP | c.391_392insGGG (p.Tyr131delinsTrpAsp) n.340_341insGGG c.313_314insGGG (p.Tyr105delinsTrpAsp) c.463_464insGGG (p.Tyr155delinsTrpAsp) n.738_739insGGG | gnomAD v4 |
| 21 | g.37065596A= | CA2388296167 | PIGP | c.391T= (p.Tyr131=) n.340T= c.313T= (p.Tyr105=) c.463T= (p.Tyr155=) n.738T= | |
| 21 | g.37065596A>C | CA409918025 | PIGP | c.391T>G (p.Tyr131Asp) n.340T>G c.313T>G (p.Tyr105Asp) c.463T>G (p.Tyr155Asp) n.738T>G | |
| 21 | g.37065596A>G | CA10021018 | PIGP | c.391T>C (p.Tyr131His) n.340T>C c.313T>C (p.Tyr105His) c.463T>C (p.Tyr155His) n.738T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.37065596A>T | CA409918027 | PIGP | c.391T>A (p.Tyr131Asn) n.340T>A c.313T>A (p.Tyr105Asn) c.463T>A (p.Tyr155Asn) n.738T>A | gnomAD v4 |
| 21 | g.37065597A= | CA2388296168 | PIGP | c.390T= (p.Leu130=) n.339T= c.312T= (p.Leu104=) c.462T= (p.Leu154=) n.737T= | |
| 21 | g.37065597A>C | CA512083122 | PIGP | c.390T>G (p.Leu130=) n.339T>G c.312T>G (p.Leu104=) c.462T>G (p.Leu154=) n.737T>G | |
| 21 | g.37065597A>G | CA512083123 | PIGP | c.390T>C (p.Leu130=) n.339T>C c.312T>C (p.Leu104=) c.462T>C (p.Leu154=) n.737T>C | |
| 21 | g.37065597A>T | CA320402054 | PIGP | c.390T>A (p.Leu130=) n.339T>A c.312T>A (p.Leu104=) c.462T>A (p.Leu154=) n.737T>A | dbSNP gnomAD v4 |
| 21 | g.37065598A>C | CA409918033 | PIGP | c.389T>G (p.Leu130Arg) n.338T>G c.311T>G (p.Leu104Arg) c.461T>G (p.Leu154Arg) n.736T>G | |
| 21 | g.37065598A>G | CA409918034 | PIGP | c.389T>C (p.Leu130Pro) n.338T>C c.311T>C (p.Leu104Pro) c.461T>C (p.Leu154Pro) n.736T>C | |
| 21 | g.37065598A>T | CA409918037 | PIGP | c.389T>A (p.Leu130His) n.338T>A c.311T>A (p.Leu104His) c.461T>A (p.Leu154His) n.736T>A | |
| 21 | g.37065599G>A | CA409918040 | PIGP | c.388C>T (p.Leu130Phe) n.337C>T c.310C>T (p.Leu104Phe) c.460C>T (p.Leu154Phe) n.735C>T | gnomAD v4 |
| 21 | g.37065599G>C | CA409918042 | PIGP | c.388C>G (p.Leu130Val) n.337C>G c.310C>G (p.Leu104Val) c.460C>G (p.Leu154Val) n.735C>G | |
| 21 | g.37065599G>T | CA409918044 | PIGP | c.388C>A (p.Leu130Ile) n.337C>A c.310C>A (p.Leu104Ile) c.460C>A (p.Leu154Ile) n.735C>A | |
| 21 | g.37065600T>A | CA409918047 | PIGP | c.387A>T (p.Glu129Asp) n.336A>T c.309A>T (p.Glu103Asp) c.459A>T (p.Glu153Asp) n.734A>T | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.37065600T>C | CA512083124 | PIGP | c.387A>G (p.Glu129=) n.336A>G c.309A>G (p.Glu103=) c.459A>G (p.Glu153=) n.734A>G | |
| 21 | g.37065600T>G | CA409918049 | PIGP | c.387A>C (p.Glu129Asp) n.336A>C c.309A>C (p.Glu103Asp) c.459A>C (p.Glu153Asp) n.734A>C | |
| 21 | g.37065600T= | CA2388296169 | PIGP | c.387A= (p.Glu129=) n.336A= c.309A= (p.Glu103=) c.459A= (p.Glu153=) n.734A= | |
| 21 | g.37065601T>A | CA409918052 | PIGP | c.386A>T (p.Glu129Val) n.335A>T c.308A>T (p.Glu103Val) c.458A>T (p.Glu153Val) n.733A>T | |
| 21 | g.37065601T>C | CA409918054 | PIGP | c.386A>G (p.Glu129Gly) n.335A>G c.308A>G (p.Glu103Gly) c.458A>G (p.Glu153Gly) n.733A>G | |
| 21 | g.37065601T>G | CA409918056 | PIGP | c.386A>C (p.Glu129Ala) n.335A>C c.308A>C (p.Glu103Ala) c.458A>C (p.Glu153Ala) n.733A>C | |
| 21 | g.37065602C>A | CA409918064 | PIGP | c.385G>T (p.Glu129Ter) n.334G>T c.307G>T (p.Glu103Ter) c.457G>T (p.Glu153Ter) n.732G>T | dbSNP |
| 21 | g.37065602C= | CA2388296171 | PIGP | c.385G= (p.Glu129=) n.334G= c.307G= (p.Glu103=) c.457G= (p.Glu153=) n.732G= | |
| 21 | g.37065602C>G | CA409918061 | PIGP | c.385G>C (p.Glu129Gln) n.334G>C c.307G>C (p.Glu103Gln) c.457G>C (p.Glu153Gln) n.732G>C | |
| 21 | g.37065602C>T | CA409918059 | PIGP | c.385G>A (p.Glu129Lys) n.334G>A c.307G>A (p.Glu103Lys) c.457G>A (p.Glu153Lys) n.732G>A | gnomAD v4 |
| 21 | g.37065602_37065603delinsCT | CA2388296170 | PIGP | c.384_385delinsAG (p.Lys128=) n.333_334delinsAG c.306_307delinsAG (p.Lys102=) c.456_457delinsAG (p.Lys152=) n.731_732delinsAG | |
| 21 | g.37065603T>A | CA409918071 | PIGP | c.384A>T (p.Lys128Asn) n.333A>T c.306A>T (p.Lys102Asn) c.456A>T (p.Lys152Asn) n.731A>T | |
| 21 | g.37065603T>C | CA512083125 | PIGP | c.384A>G (p.Lys128=) n.333A>G c.306A>G (p.Lys102=) c.456A>G (p.Lys152=) n.731A>G | |
| 21 | g.37065603T>G | CA409918067 | PIGP | c.384A>C (p.Lys128Asn) n.333A>C c.306A>C (p.Lys102Asn) c.456A>C (p.Lys152Asn) n.731A>C | |
| 21 | g.37065605del | CA10021019 | PIGP | c.384del (p.Glu129AsnfsTer?) n.333del c.306del (p.Glu103AsnfsTer?) c.456del (p.Glu153AsnfsTer?) n.731del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.37065604T>A | CA409918074 | PIGP | c.383A>T (p.Lys128Ile) n.332A>T c.305A>T (p.Lys102Ile) c.455A>T (p.Lys152Ile) n.730A>T | |
| 21 | g.37065604T>C | CA409918075 | PIGP | c.383A>G (p.Lys128Arg) n.332A>G c.305A>G (p.Lys102Arg) c.455A>G (p.Lys152Arg) n.730A>G | |
| 21 | g.37065604T>G | CA409918076 | PIGP | c.383A>C (p.Lys128Thr) n.332A>C c.305A>C (p.Lys102Thr) c.455A>C (p.Lys152Thr) n.730A>C | |
| 21 | g.37065605T>A | CA409918080 | PIGP | c.382A>T (p.Lys128Ter) n.331A>T c.304A>T (p.Lys102Ter) c.454A>T (p.Lys152Ter) n.729A>T | gnomAD v4 |
| 21 | g.37065605T>C | CA409918082 | PIGP | c.382A>G (p.Lys128Glu) n.331A>G c.304A>G (p.Lys102Glu) c.454A>G (p.Lys152Glu) n.729A>G | |
| 21 | g.37065605T>G | CA409918084 | PIGP | c.382A>C (p.Lys128Gln) n.331A>C c.304A>C (p.Lys102Gln) c.454A>C (p.Lys152Gln) n.729A>C | |
| 21 | g.37065606G>A | CA10021020 | PIGP | c.381C>T (p.Ala127=) n.330C>T c.303C>T (p.Ala101=) c.453C>T (p.Ala151=) n.728C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.37065606G>C | CA512083126 | PIGP | c.381C>G (p.Ala127=) n.330C>G c.303C>G (p.Ala101=) c.453C>G (p.Ala151=) n.728C>G | |
| 21 | g.37065606G= | CA2388296172 | PIGP | c.381C= (p.Ala127=) n.330C= c.303C= (p.Ala101=) c.453C= (p.Ala151=) n.728C= | |
| 21 | g.37065606G>T | CA512083127 | PIGP | c.381C>A (p.Ala127=) n.330C>A c.303C>A (p.Ala101=) c.453C>A (p.Ala151=) n.728C>A | |
| 21 | g.37065607G>A | CA10021021 | PIGP | c.380C>T (p.Ala127Val) n.329C>T c.302C>T (p.Ala101Val) c.452C>T (p.Ala151Val) n.727C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.37065607G>C | CA409918087 | PIGP | c.380C>G (p.Ala127Gly) n.329C>G c.302C>G (p.Ala101Gly) c.452C>G (p.Ala151Gly) n.727C>G | |
| 21 | g.37065607G= | CA2388296173 | PIGP | c.380C= (p.Ala127=) n.329C= c.302C= (p.Ala101=) c.452C= (p.Ala151=) n.727C= | |
| 21 | g.37065607G>T | CA409918090 | PIGP | c.380C>A (p.Ala127Asp) n.329C>A c.302C>A (p.Ala101Asp) c.452C>A (p.Ala151Asp) n.727C>A | |
| 21 | g.37065608C>A | CA409918096 | PIGP | c.379G>T (p.Ala127Ser) n.328G>T c.301G>T (p.Ala101Ser) c.451G>T (p.Ala151Ser) n.726G>T | |
| 21 | g.37065608C>G | CA409918098 | PIGP | c.379G>C (p.Ala127Pro) n.328G>C c.301G>C (p.Ala101Pro) c.451G>C (p.Ala151Pro) n.726G>C | |
| 21 | g.37065608C>T | CA409918093 | PIGP | c.379G>A (p.Ala127Thr) n.328G>A c.301G>A (p.Ala101Thr) c.451G>A (p.Ala151Thr) n.726G>A | |
| 21 | g.37065609T>A | CA512083128 | PIGP | c.378A>T (p.Ala126=) n.327A>T c.300A>T (p.Ala100=) c.450A>T (p.Ala150=) n.725A>T | |
| 21 | g.37065609T>C | CA512083130 | PIGP | c.378A>G (p.Ala126=) n.327A>G c.300A>G (p.Ala100=) c.450A>G (p.Ala150=) n.725A>G | dbSNP gnomAD v4 |
| 21 | g.37065609T>G | CA512083129 | PIGP | c.378A>C (p.Ala126=) n.327A>C c.300A>C (p.Ala100=) c.450A>C (p.Ala150=) n.725A>C | |
| 21 | g.37065609T= | CA2388296174 | PIGP | c.378A= (p.Ala126=) n.327A= c.300A= (p.Ala100=) c.450A= (p.Ala150=) n.725A= | |
| 21 | g.37065610G>A | CA409918104 | PIGP | c.377C>T (p.Ala126Val) n.326C>T c.299C>T (p.Ala100Val) c.449C>T (p.Ala150Val) n.724C>T | gnomAD v4 |
| 21 | g.37065610G>C | CA409918106 | PIGP | c.377C>G (p.Ala126Gly) n.326C>G c.299C>G (p.Ala100Gly) c.449C>G (p.Ala150Gly) n.724C>G | |
| 21 | g.37065610G>T | CA409918109 | PIGP | c.377C>A (p.Ala126Glu) n.326C>A c.299C>A (p.Ala100Glu) c.449C>A (p.Ala150Glu) n.724C>A | gnomAD v4 |
| 21 | g.37065611C>A | CA409918111 | PIGP | c.376G>T (p.Ala126Ser) n.325G>T c.298G>T (p.Ala100Ser) c.448G>T (p.Ala150Ser) n.723G>T | dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.37065611C= | CA2388296176 | PIGP | c.376G= (p.Ala126=) n.325G= c.298G= (p.Ala100=) c.448G= (p.Ala150=) n.723G= | |
| 21 | g.37065611C>G | CA10021022 | PIGP | c.376G>C (p.Ala126Pro) n.325G>C c.298G>C (p.Ala100Pro) c.448G>C (p.Ala150Pro) n.723G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.37065611C>T | CA409918115 | PIGP | c.376G>A (p.Ala126Thr) n.325G>A c.298G>A (p.Ala100Thr) c.448G>A (p.Ala150Thr) n.723G>A | |
| 21 | g.37065611_37065612delinsCA | CA2388296175 | PIGP | c.375_376delinsTG (p.Leu125=) n.324_325delinsTG c.297_298delinsTG (p.Leu99=) c.447_448delinsTG (p.Leu149=) n.722_723delinsTG | |
| 21 | g.37065612A>C | CA512083133 | PIGP | c.375T>G (p.Leu125=) n.324T>G c.297T>G (p.Leu99=) c.447T>G (p.Leu149=) n.722T>G | |
| 21 | g.37065612A>G | CA512083131 | PIGP | c.375T>C (p.Leu125=) n.324T>C c.297T>C (p.Leu99=) c.447T>C (p.Leu149=) n.722T>C | |
| 21 | g.37065612A>T | CA512083132 | PIGP | c.375T>A (p.Leu125=) n.324T>A c.297T>A (p.Leu99=) c.447T>A (p.Leu149=) n.722T>A | |
| 21 | g.37065613del | CA637791398 | PIGP | c.375del (p.Ala126GlnfsTer?) n.324del c.297del (p.Ala100GlnfsTer?) c.447del (p.Ala150GlnfsTer?) n.722del | dbSNP gnomAD v2 gnomAD v4 |