Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.73641255A>C | CA347287686 | ALMS1P1,NAT8 | c.374T>G (p.Leu125Arg) n.173A>C | |
2 | g.73641255A>G | CA347287687 | ALMS1P1,NAT8 | c.374T>C (p.Leu125Pro) n.173A>G | |
2 | g.73641255A>T | CA347287692 | ALMS1P1,NAT8 | c.374T>A (p.Leu125Gln) n.173A>T | |
2 | g.73641256G>A | CA427024797 | ALMS1P1,NAT8 | c.373C>T (p.Leu125=) n.174G>A | |
2 | g.73641256G>C | CA347287697 | ALMS1P1,NAT8 | c.373C>G (p.Leu125Val) n.174G>C | gnomAD v4 |
2 | g.73641256G>T | CA347287699 | ALMS1P1,NAT8 | c.373C>A (p.Leu125Met) n.174G>T | |
2 | g.73641257A= | CA1261057243 | ALMS1P1,NAT8 | c.372T= (p.Ala124=) n.175A= | |
2 | g.73641257A>C | CA427024798 | ALMS1P1,NAT8 | c.372T>G (p.Ala124=) n.175A>C | |
2 | g.73641257A>G | CA1715717 | ALMS1P1,NAT8 | c.372T>C (p.Ala124=) n.175A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641257A>T | CA427024800 | ALMS1P1,NAT8 | c.372T>A (p.Ala124=) n.175A>T | |
2 | g.73641258G>A | CA347287709 | ALMS1P1,NAT8 | c.371C>T (p.Ala124Val) n.176G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73641258G>C | CA347287707 | ALMS1P1,NAT8 | c.371C>G (p.Ala124Gly) n.176G>C | |
2 | g.73641258G= | CA1261057244 | ALMS1P1,NAT8 | c.371C= (p.Ala124=) n.176G= | |
2 | g.73641258G>T | CA347287708 | ALMS1P1,NAT8 | c.371C>A (p.Ala124Asp) n.176G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73641259C>A | CA347287711 | ALMS1P1,NAT8 | c.370G>T (p.Ala124Ser) n.177C>A | COSMIC |
2 | g.73641259C= | CA1261057245 | ALMS1P1,NAT8 | c.370G= (p.Ala124=) n.177C= | |
2 | g.73641259C>G | CA347287714 | ALMS1P1,NAT8 | c.370G>C (p.Ala124Pro) n.177C>G | gnomAD v4 |
2 | g.73641259C>T | CA1715718 | ALMS1P1,NAT8 | c.370G>A (p.Ala124Thr) n.177C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641260T>A | CA427024810 | ALMS1P1,NAT8 | c.369A>T (p.Gly123=) n.178T>A | |
2 | g.73641260T>C | CA427024806 | ALMS1P1,NAT8 | c.369A>G (p.Gly123=) n.178T>C | |
2 | g.73641260T>G | CA427024809 | ALMS1P1,NAT8 | c.369A>C (p.Gly123=) n.178T>G | |
2 | g.73641261C>A | CA1715719 | ALMS1P1,NAT8 | c.368G>T (p.Gly123Val) n.179C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641261C= | CA1261057246 | ALMS1P1,NAT8 | c.368G= (p.Gly123=) n.179C= | |
2 | g.73641261C>G | CA347287736 | ALMS1P1,NAT8 | c.368G>C (p.Gly123Ala) n.179C>G | |
2 | g.73641261C>T | CA347287760 | ALMS1P1,NAT8 | c.368G>A (p.Gly123Glu) n.179C>T | |
2 | g.73641262C>A | CA347287762 | ALMS1P1,NAT8 | c.367G>T (p.Gly123Ter) n.180C>A | gnomAD v4 |
2 | g.73641262C>G | CA347287771 | ALMS1P1,NAT8 | c.367G>C (p.Gly123Arg) n.180C>G | |
2 | g.73641262C>T | CA347287768 | ALMS1P1,NAT8 | c.367G>A (p.Gly123Arg) n.180C>T | |
2 | g.73641263T>A | CA427024814 | ALMS1P1,NAT8 | c.366A>T (p.Val122=) n.181T>A | |
2 | g.73641263T>C | CA427024816 | ALMS1P1,NAT8 | c.366A>G (p.Val122=) n.181T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73641263T>G | CA427024818 | ALMS1P1,NAT8 | c.366A>C (p.Val122=) n.181T>G | |
2 | g.73641263T= | CA1261057247 | ALMS1P1,NAT8 | c.366A= (p.Val122=) n.181T= | |
2 | g.73641264A>C | CA347287775 | ALMS1P1,NAT8 | c.365T>G (p.Val122Gly) n.182A>C | gnomAD v4 |
2 | g.73641264A>G | CA347287784 | ALMS1P1,NAT8 | c.365T>C (p.Val122Ala) n.182A>G | |
2 | g.73641264A>T | CA347287791 | ALMS1P1,NAT8 | c.365T>A (p.Val122Glu) n.182A>T | |
2 | g.73641265C>A | CA347287795 | ALMS1P1,NAT8 | c.364G>T (p.Val122Leu) n.183C>A | |
2 | g.73641265C= | CA1261057248 | ALMS1P1,NAT8 | c.364G= (p.Val122=) n.183C= | |
2 | g.73641265C>G | CA347287817 | ALMS1P1,NAT8 | c.364G>C (p.Val122Leu) n.183C>G | dbSNP |
2 | g.73641265C>T | CA1715720 | ALMS1P1,NAT8 | c.364G>A (p.Val122Ile) n.183C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641266C>A | CA1715722 | ALMS1P1,NAT8 | c.363G>T (p.Met121Ile) n.184C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641266C= | CA1261057249 | ALMS1P1,NAT8 | c.363G= (p.Met121=) n.184C= | |
2 | g.73641266C>G | CA347287829 | ALMS1P1,NAT8 | c.363G>C (p.Met121Ile) n.184C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641266C>T | CA1715721 | ALMS1P1,NAT8 | c.363G>A (p.Met121Ile) n.184C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641267A= | CA1261057250 | ALMS1P1,NAT8 | c.362T= (p.Met121=) n.185A= | |
2 | g.73641267A>C | CA1715724 | ALMS1P1,NAT8 | c.362T>G (p.Met121Arg) n.185A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641267A>G | CA1715723 | ALMS1P1,NAT8 | c.362T>C (p.Met121Thr) n.185A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.73641267A>T | CA347287840 | ALMS1P1,NAT8 | c.362T>A (p.Met121Lys) n.185A>T | COSMIC |
2 | g.73641268T>A | CA347287844 | ALMS1P1,NAT8 | c.361A>T (p.Met121Leu) n.186T>A | |
2 | g.73641268T>C | CA347287851 | ALMS1P1,NAT8 | c.361A>G (p.Met121Val) n.186T>C | ClinVar |
2 | g.73641268T>G | CA347287847 | ALMS1P1,NAT8 | c.361A>C (p.Met121Leu) n.186T>G | |
2 | g.73641269G>A | CA427024824 | ALMS1P1,NAT8 | c.360C>T (p.Gly120=) n.187G>A | |
2 | g.73641269G>C | CA427024825 | ALMS1P1,NAT8 | c.360C>G (p.Gly120=) n.187G>C | |
2 | g.73641269G>T | CA427024826 | ALMS1P1,NAT8 | c.360C>A (p.Gly120=) n.187G>T | |
2 | g.73641270C>A | CA347287854 | ALMS1P1,NAT8 | c.359G>T (p.Gly120Val) n.188C>A | |
2 | g.73641270C= | CA1261057251 | ALMS1P1,NAT8 | c.359G= (p.Gly120=) n.188C= | |
2 | g.73641270C>G | CA347287858 | ALMS1P1,NAT8 | c.359G>C (p.Gly120Ala) n.188C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73641270C>T | CA347287861 | ALMS1P1,NAT8 | c.359G>A (p.Gly120Asp) n.188C>T | gnomAD v4 COSMIC |
2 | g.73641271C>A | CA347287868 | ALMS1P1,NAT8 | c.358G>T (p.Gly120Cys) n.189C>A | |
2 | g.73641271C= | CA1261057252 | ALMS1P1,NAT8 | c.358G= (p.Gly120=) n.189C= | |
2 | g.73641271C>G | CA347287870 | ALMS1P1,NAT8 | c.358G>C (p.Gly120Arg) n.189C>G | |
2 | g.73641271C>T | CA50371414 | ALMS1P1,NAT8 | c.358G>A (p.Gly120Ser) n.189C>T | dbSNP gnomAD v4 |
2 | g.73641272C>A | CA427024827 | ALMS1P1,NAT8 | c.357G>T (p.Val119=) n.190C>A | |
2 | g.73641272C= | CA1261057253 | ALMS1P1,NAT8 | c.357G= (p.Val119=) n.190C= | |
2 | g.73641272C>G | CA427024828 | ALMS1P1,NAT8 | c.357G>C (p.Val119=) n.190C>G | gnomAD v4 |
2 | g.73641272C>T | CA1715725 | ALMS1P1,NAT8 | c.357G>A (p.Val119=) n.190C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641273A>C | CA347287885 | ALMS1P1,NAT8 | c.356T>G (p.Val119Gly) n.191A>C | |
2 | g.73641273A>G | CA347287898 | ALMS1P1,NAT8 | c.356T>C (p.Val119Ala) n.191A>G | gnomAD v4 |
2 | g.73641273A>T | CA347287894 | ALMS1P1,NAT8 | c.356T>A (p.Val119Glu) n.191A>T | |
2 | g.73641274C>A | CA347287905 | ALMS1P1,NAT8 | c.355G>T (p.Val119Leu) n.192C>A | |
2 | g.73641274C>G | CA347287908 | ALMS1P1,NAT8 | c.355G>C (p.Val119Leu) n.192C>G | |
2 | g.73641274C>T | CA347287913 | ALMS1P1,NAT8 | c.355G>A (p.Val119Met) n.192C>T | gnomAD v4 |
2 | g.73641275C>A | CA427024834 | ALMS1P1,NAT8 | c.354G>T (p.Val118=) n.193C>A | |
2 | g.73641275C= | CA1261057254 | ALMS1P1,NAT8 | c.354G= (p.Val118=) n.193C= | |
2 | g.73641275C>G | CA1715726 | ALMS1P1,NAT8 | c.354G>C (p.Val118=) n.193C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641275C>T | CA427024836 | ALMS1P1,NAT8 | c.354G>A (p.Val118=) n.193C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641276A>C | CA347287925 | ALMS1P1,NAT8 | c.353T>G (p.Val118Gly) n.194A>C | |
2 | g.73641276A>G | CA347287931 | ALMS1P1,NAT8 | c.353T>C (p.Val118Ala) n.194A>G | |
2 | g.73641276A>T | CA347287930 | ALMS1P1,NAT8 | c.353T>A (p.Val118Glu) n.194A>T | |
2 | g.73641277C>A | CA347287932 | ALMS1P1,NAT8 | c.352G>T (p.Val118Leu) n.195C>A | |
2 | g.73641277C= | CA1261057255 | ALMS1P1,NAT8 | c.352G= (p.Val118=) n.195C= | |
2 | g.73641277C>G | CA50371431 | ALMS1P1,NAT8 | c.352G>C (p.Val118Leu) n.195C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641277C>T | CA347287937 | ALMS1P1,NAT8 | c.352G>A (p.Val118Met) n.195C>T | |
2 | g.73641278C>A | CA347287941 | ALMS1P1,NAT8 | c.351G>T (p.Lys117Asn) n.196C>A | |
2 | g.73641278C= | CA1261057256 | ALMS1P1,NAT8 | c.351G= (p.Lys117=) n.196C= | |
2 | g.73641278C>G | CA50371433 | ALMS1P1,NAT8 | c.351G>C (p.Lys117Asn) n.196C>G | dbSNP |
2 | g.73641278C>T | CA1715727 | ALMS1P1,NAT8 | c.351G>A (p.Lys117=) n.196C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641279T>A | CA347287950 | ALMS1P1,NAT8 | c.350A>T (p.Lys117Met) n.197T>A | |
2 | g.73641279T>C | CA347287951 | ALMS1P1,NAT8 | c.350A>G (p.Lys117Arg) n.197T>C | |
2 | g.73641279T>G | CA347287952 | ALMS1P1,NAT8 | c.350A>C (p.Lys117Thr) n.197T>G | |
2 | g.73641280T>A | CA347287953 | ALMS1P1,NAT8 | c.349A>T (p.Lys117Ter) n.198T>A | gnomAD v4 |
2 | g.73641280T>C | CA347287955 | ALMS1P1,NAT8 | c.349A>G (p.Lys117Glu) n.198T>C | |
2 | g.73641280T>G | CA347287958 | ALMS1P1,NAT8 | c.349A>C (p.Lys117Gln) n.198T>G | |
2 | g.73641281C>A | CA347287959 | ALMS1P1,NAT8 | c.348G>T (p.Glu116Asp) n.199C>A | |
2 | g.73641281C= | CA1261057257 | ALMS1P1,NAT8 | c.348G= (p.Glu116=) n.199C= | |
2 | g.73641281C>G | CA347287960 | ALMS1P1,NAT8 | c.348G>C (p.Glu116Asp) n.199C>G | |
2 | g.73641281C>T | CA50371440 | ALMS1P1,NAT8 | c.348G>A (p.Glu116=) n.199C>T | dbSNP |
2 | g.73641282T>A | CA347287962 | ALMS1P1,NAT8 | c.347A>T (p.Glu116Val) n.200T>A | |
2 | g.73641282T>C | CA347287970 | ALMS1P1,NAT8 | c.347A>G (p.Glu116Gly) n.200T>C | |
2 | g.73641282T>G | CA347287978 | ALMS1P1,NAT8 | c.347A>C (p.Glu116Ala) n.200T>G | |
2 | g.73641283C>A | CA347287982 | ALMS1P1,NAT8 | c.346G>T (p.Glu116Ter) n.201C>A | gnomAD v4 |
2 | g.73641283C= | CA1261057258 | ALMS1P1,NAT8 | c.346G= (p.Glu116=) n.201C= | |
2 | g.73641283C>G | CA347287985 | ALMS1P1,NAT8 | c.346G>C (p.Glu116Gln) n.201C>G | gnomAD v4 |
2 | g.73641283C>T | CA347287988 | ALMS1P1,NAT8 | c.346G>A (p.Glu116Lys) n.201C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73641284T>A | CA347287991 | ALMS1P1,NAT8 | c.345A>T (p.Glu115Asp) n.202T>A | |
2 | g.73641284T>C | CA427024846 | ALMS1P1,NAT8 | c.345A>G (p.Glu115=) n.202T>C | |
2 | g.73641284T>G | CA347287992 | ALMS1P1,NAT8 | c.345A>C (p.Glu115Asp) n.202T>G | |
2 | g.73641285T>A | CA347288000 | ALMS1P1,NAT8 | c.344A>T (p.Glu115Val) n.203T>A | |
2 | g.73641285T>C | CA347288004 | ALMS1P1,NAT8 | c.344A>G (p.Glu115Gly) n.203T>C | dbSNP |
2 | g.73641285T>G | CA347288011 | ALMS1P1,NAT8 | c.344A>C (p.Glu115Ala) n.203T>G | dbSNP gnomAD v4 |
2 | g.73641285T= | CA1261057259 | ALMS1P1,NAT8 | c.344A= (p.Glu115=) n.203T= | |
2 | g.73641286C>A | CA347288013 | ALMS1P1,NAT8 | c.343G>T (p.Glu115Ter) n.204C>A | |
2 | g.73641286C>G | CA347288015 | ALMS1P1,NAT8 | c.343G>C (p.Glu115Gln) n.204C>G | |
2 | g.73641286C>T | CA347288019 | ALMS1P1,NAT8 | c.343G>A (p.Glu115Lys) n.204C>T | gnomAD v4 |
2 | g.73641287A>C | CA427024849 | ALMS1P1,NAT8 | c.342T>G (p.Ser114=) n.205A>C | |
2 | g.73641287A>G | CA427024850 | ALMS1P1,NAT8 | c.342T>C (p.Ser114=) n.205A>G | |
2 | g.73641287A>T | CA427024851 | ALMS1P1,NAT8 | c.342T>A (p.Ser114=) n.205A>T | |
2 | g.73641288G>A | CA347288035 | ALMS1P1,NAT8 | c.341C>T (p.Ser114Phe) n.206G>A | |
2 | g.73641288G>C | CA347288030 | ALMS1P1,NAT8 | c.341C>G (p.Ser114Cys) n.206G>C | gnomAD v4 |
2 | g.73641288G= | CA1261057260 | ALMS1P1,NAT8 | c.341C= (p.Ser114=) n.206G= | |
2 | g.73641288G>T | CA50371441 | ALMS1P1,NAT8 | c.341C>A (p.Ser114Tyr) n.206G>T | dbSNP gnomAD v4 |
2 | g.73641289A>C | CA347288038 | ALMS1P1,NAT8 | c.340T>G (p.Ser114Ala) n.207A>C | |
2 | g.73641289A>G | CA347288045 | ALMS1P1,NAT8 | c.340T>C (p.Ser114Pro) n.207A>G | |
2 | g.73641289A>T | CA347288047 | ALMS1P1,NAT8 | c.340T>A (p.Ser114Thr) n.207A>T | |
2 | g.73641290C>A | CA347288059 | ALMS1P1,NAT8 | c.339G>T (p.Glu113Asp) n.208C>A | |
2 | g.73641290C>G | CA347288064 | ALMS1P1,NAT8 | c.339G>C (p.Glu113Asp) n.208C>G | |
2 | g.73641290C>T | CA427024856 | ALMS1P1,NAT8 | c.339G>A (p.Glu113=) n.208C>T | gnomAD v4 |
2 | g.73641291T>A | CA347288071 | ALMS1P1,NAT8 | c.338A>T (p.Glu113Val) n.209T>A | |
2 | g.73641291T>C | CA347288075 | ALMS1P1,NAT8 | c.338A>G (p.Glu113Gly) n.209T>C | |
2 | g.73641291T>G | CA347288081 | ALMS1P1,NAT8 | c.338A>C (p.Glu113Ala) n.209T>G | gnomAD v4 |
2 | g.73641292C>A | CA347288085 | ALMS1P1,NAT8 | c.337G>T (p.Glu113Ter) n.210C>A | |
2 | g.73641292C= | CA1261057261 | ALMS1P1,NAT8 | c.337G= (p.Glu113=) n.210C= | |
2 | g.73641292C>G | CA347288089 | ALMS1P1,NAT8 | c.337G>C (p.Glu113Gln) n.210C>G | |
2 | g.73641292C>T | CA347288092 | ALMS1P1,NAT8 | c.337G>A (p.Glu113Lys) n.210C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73641293A>C | CA427024860 | ALMS1P1,NAT8 | c.336T>G (p.Ala112=) n.211A>C | |
2 | g.73641293A>G | CA427024861 | ALMS1P1,NAT8 | c.336T>C (p.Ala112=) n.211A>G | gnomAD v4 |
2 | g.73641293A>T | CA427024862 | ALMS1P1,NAT8 | c.336T>A (p.Ala112=) n.211A>T | |
2 | g.73641293dup | CA427024859 | ALMS1P1,NAT8 | c.336dup (p.Glu113Ter) n.211dup | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73641294G>A | CA347288100 | ALMS1P1,NAT8 | c.335C>T (p.Ala112Val) n.212G>A | gnomAD v4 |
2 | g.73641294G>C | CA347288104 | ALMS1P1,NAT8 | c.335C>G (p.Ala112Gly) n.212G>C | gnomAD v4 |
2 | g.73641294G= | CA1261057262 | ALMS1P1,NAT8 | c.335C= (p.Ala112=) n.212G= | |
2 | g.73641294G>T | CA1715728 | ALMS1P1,NAT8 | c.335C>A (p.Ala112Asp) n.212G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641295C>A | CA347288110 | ALMS1P1,NAT8 | c.334G>T (p.Ala112Ser) n.213C>A | |
2 | g.73641295C= | CA1261057263 | ALMS1P1,NAT8 | c.334G= (p.Ala112=) n.213C= | |
2 | g.73641295C>G | CA347288113 | ALMS1P1,NAT8 | c.334G>C (p.Ala112Pro) n.213C>G | |
2 | g.73641295C>T | CA1715729 | ALMS1P1,NAT8 | c.334G>A (p.Ala112Thr) n.213C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641296C>A | CA427024865 | ALMS1P1,NAT8 | c.333G>T (p.Val111=) n.214C>A | |
2 | g.73641296C= | CA1261057264 | ALMS1P1,NAT8 | c.333G= (p.Val111=) n.214C= | |
2 | g.73641296C>G | CA427024866 | ALMS1P1,NAT8 | c.333G>C (p.Val111=) n.214C>G | |
2 | g.73641296C>T | CA427024867 | ALMS1P1,NAT8 | c.333G>A (p.Val111=) n.214C>T | dbSNP gnomAD v4 |
2 | g.73641297A>C | CA347288118 | ALMS1P1,NAT8 | c.332T>G (p.Val111Gly) n.215A>C | |
2 | g.73641297A>G | CA347288121 | ALMS1P1,NAT8 | c.332T>C (p.Val111Ala) n.215A>G | |
2 | g.73641297A>T | CA347288126 | ALMS1P1,NAT8 | c.332T>A (p.Val111Glu) n.215A>T | |
2 | g.73641298C>A | CA347288131 | ALMS1P1,NAT8 | c.331G>T (p.Val111Leu) n.216C>A | |
2 | g.73641298C>G | CA347288134 | ALMS1P1,NAT8 | c.331G>C (p.Val111Leu) n.216C>G | |
2 | g.73641298C>T | CA347288138 | ALMS1P1,NAT8 | c.331G>A (p.Val111Met) n.216C>T | |
2 | g.73641299C>A | CA347288142 | ALMS1P1,NAT8 | c.330G>T (p.Trp110Cys) n.217C>A | |
2 | g.73641299C>G | CA347288145 | ALMS1P1,NAT8 | c.330G>C (p.Trp110Cys) n.217C>G | gnomAD v4 |
2 | g.73641299C>T | CA347288146 | ALMS1P1,NAT8 | c.330G>A (p.Trp110Ter) n.217C>T | |
2 | g.73641300C>A | CA347288147 | ALMS1P1,NAT8 | c.329G>T (p.Trp110Leu) n.218C>A | |
2 | g.73641300C>G | CA347288148 | ALMS1P1,NAT8 | c.329G>C (p.Trp110Ser) n.218C>G | |
2 | g.73641300C>T | CA347288150 | ALMS1P1,NAT8 | c.329G>A (p.Trp110Ter) n.218C>T | |
2 | g.73641301A>C | CA347288155 | ALMS1P1,NAT8 | c.328T>G (p.Trp110Gly) n.219A>C | |
2 | g.73641301A>G | CA347288161 | ALMS1P1,NAT8 | c.328T>C (p.Trp110Arg) n.219A>G | |
2 | g.73641301A>T | CA347288153 | ALMS1P1,NAT8 | c.328T>A (p.Trp110Arg) n.219A>T | |
2 | g.73641302G>A | CA427024871 | ALMS1P1,NAT8 | c.327C>T (p.Phe109=) n.220G>A | |
2 | g.73641302G>C | CA347288165 | ALMS1P1,NAT8 | c.327C>G (p.Phe109Leu) n.220G>C | |
2 | g.73641302G>T | CA347288169 | ALMS1P1,NAT8 | c.327C>A (p.Phe109Leu) n.220G>T | |
2 | g.73641303A>C | CA347288174 | ALMS1P1,NAT8 | c.326T>G (p.Phe109Cys) n.221A>C | |
2 | g.73641303A>G | CA347288176 | ALMS1P1,NAT8 | c.326T>C (p.Phe109Ser) n.221A>G | gnomAD v4 |
2 | g.73641303A>T | CA347288184 | ALMS1P1,NAT8 | c.326T>A (p.Phe109Tyr) n.221A>T | |
2 | g.73641304A>C | CA347288198 | ALMS1P1,NAT8 | c.325T>G (p.Phe109Val) n.222A>C | |
2 | g.73641304A>G | CA347288190 | ALMS1P1,NAT8 | c.325T>C (p.Phe109Leu) n.222A>G | |
2 | g.73641304A>T | CA347288193 | ALMS1P1,NAT8 | c.325T>A (p.Phe109Ile) n.222A>T | |
2 | g.73641305G>A | CA50371442 | ALMS1P1,NAT8 | c.324C>T (p.Cys108=) n.223G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641305G>C | CA347288209 | ALMS1P1,NAT8 | c.324C>G (p.Cys108Trp) n.223G>C | |
2 | g.73641305G= | CA1261057265 | ALMS1P1,NAT8 | c.324C= (p.Cys108=) n.223G= | |
2 | g.73641305G>T | CA347288214 | ALMS1P1,NAT8 | c.324C>A (p.Cys108Ter) n.223G>T | |
2 | g.73641306C>A | CA347288225 | ALMS1P1,NAT8 | c.323G>T (p.Cys108Phe) n.224C>A | |
2 | g.73641306C= | CA1261057266 | ALMS1P1,NAT8 | c.323G= (p.Cys108=) n.224C= | |
2 | g.73641306C>G | CA347288227 | ALMS1P1,NAT8 | c.323G>C (p.Cys108Ser) n.224C>G | |
2 | g.73641306C>T | CA1715730 | ALMS1P1,NAT8 | c.323G>A (p.Cys108Tyr) n.224C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641307A>C | CA347288234 | ALMS1P1,NAT8 | c.322T>G (p.Cys108Gly) n.225A>C | |
2 | g.73641307A>G | CA347288241 | ALMS1P1,NAT8 | c.322T>C (p.Cys108Arg) n.225A>G | gnomAD v4 |
2 | g.73641307A>T | CA347288237 | ALMS1P1,NAT8 | c.322T>A (p.Cys108Ser) n.225A>T | |
2 | g.73641308G>A | CA427024876 | ALMS1P1,NAT8 | c.321C>T (p.Ser107=) n.226G>A | |
2 | g.73641308G>C | CA427024878 | ALMS1P1,NAT8 | c.321C>G (p.Ser107=) n.226G>C | |
2 | g.73641308G>T | CA427024877 | ALMS1P1,NAT8 | c.321C>A (p.Ser107=) n.226G>T | |
2 | g.73641309G>A | CA347288244 | ALMS1P1,NAT8 | c.320C>T (p.Ser107Phe) n.227G>A | gnomAD v4 |
2 | g.73641309G>C | CA347288251 | ALMS1P1,NAT8 | c.320C>G (p.Ser107Cys) n.227G>C | |
2 | g.73641309G>T | CA347288248 | ALMS1P1,NAT8 | c.320C>A (p.Ser107Tyr) n.227G>T | |
2 | g.73641310A>C | CA347288255 | ALMS1P1,NAT8 | c.319T>G (p.Ser107Ala) n.228A>C | |
2 | g.73641310A>G | CA347288257 | ALMS1P1,NAT8 | c.319T>C (p.Ser107Pro) n.228A>G | |
2 | g.73641310A>T | CA347288260 | ALMS1P1,NAT8 | c.319T>A (p.Ser107Thr) n.228A>T | |
2 | g.73641311del | CA2659622951 | ALMS1P1,NAT8 | c.318del (p.Ser107ProfsTer16) n.229del | gnomAD v4 |
2 | g.73641311G>A | CA427024882 | ALMS1P1,NAT8 | c.318C>T (p.Gly106=) n.229G>A | gnomAD v4 |
2 | g.73641311G>C | CA427024881 | ALMS1P1,NAT8 | c.318C>G (p.Gly106=) n.229G>C | |
2 | g.73641311G>T | CA427024880 | ALMS1P1,NAT8 | c.318C>A (p.Gly106=) n.229G>T | |
2 | g.73641312C>A | CA347288264 | ALMS1P1,NAT8 | c.317G>T (p.Gly106Val) n.230C>A | |
2 | g.73641312C= | CA1261057267 | ALMS1P1,NAT8 | c.317G= (p.Gly106=) n.230C= | |
2 | g.73641312C>G | CA347288267 | ALMS1P1,NAT8 | c.317G>C (p.Gly106Ala) n.230C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641312C>T | CA347288268 | ALMS1P1,NAT8 | c.317G>A (p.Gly106Asp) n.230C>T | COSMIC |
2 | g.73641313C>A | CA347288269 | ALMS1P1,NAT8 | c.316G>T (p.Gly106Cys) n.231C>A | |
2 | g.73641313C>G | CA347288270 | ALMS1P1,NAT8 | c.316G>C (p.Gly106Arg) n.231C>G | |
2 | g.73641313C>T | CA347288274 | ALMS1P1,NAT8 | c.316G>A (p.Gly106Ser) n.231C>T | |
2 | g.73641314A= | CA1261057268 | ALMS1P1,NAT8 | c.315T= (p.Arg105=) n.232A= | |
2 | g.73641314A>C | CA427024886 | ALMS1P1,NAT8 | c.315T>G (p.Arg105=) n.232A>C | |
2 | g.73641314A>G | CA427024888 | ALMS1P1,NAT8 | c.315T>C (p.Arg105=) n.232A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73641314A>T | CA427024887 | ALMS1P1,NAT8 | c.315T>A (p.Arg105=) n.232A>T | |
2 | g.73641315C>A | CA347288277 | ALMS1P1,NAT8 | c.314G>T (p.Arg105Leu) n.233C>A | |
2 | g.73641315C= | CA1261057269 | ALMS1P1,NAT8 | c.314G= (p.Arg105=) n.233C= | |
2 | g.73641315C>G | CA347288280 | ALMS1P1,NAT8 | c.314G>C (p.Arg105Pro) n.233C>G | |
2 | g.73641315C>T | CA1715731 | ALMS1P1,NAT8 | c.314G>A (p.Arg105His) n.233C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641316G>A | CA1715732 | ALMS1P1,NAT8 | c.313C>T (p.Arg105Cys) n.234G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641316G>C | CA347288284 | ALMS1P1,NAT8 | c.313C>G (p.Arg105Gly) n.234G>C | dbSNP |
2 | g.73641316G= | CA1261057270 | ALMS1P1,NAT8 | c.313C= (p.Arg105=) n.234G= | |
2 | g.73641316G>T | CA347288285 | ALMS1P1,NAT8 | c.313C>A (p.Arg105Ser) n.234G>T | |
2 | g.73641316_73641320delinsGCTCA | CA1261057271 | ALMS1P1,NAT8 | c.309_313delinsTGAGC (p.Ser103=) n.234_238delinsGCTCA | |
2 | g.73641317C>A | CA347288292 | ALMS1P1,NAT8 | c.312G>T (p.Glu104Asp) n.235C>A | |
2 | g.73641317C= | CA1261057272 | ALMS1P1,NAT8 | c.312G= (p.Glu104=) n.235C= | |
2 | g.73641317C>G | CA1715733 | ALMS1P1,NAT8 | c.312G>C (p.Glu104Asp) n.235C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641317C>T | CA427024891 | ALMS1P1,NAT8 | c.312G>A (p.Glu104=) n.235C>T | |
2 | g.73641321_73641324del | CA892867487 | ALMS1P1,NAT8 | c.309_312del (p.Glu104ValfsTer18) n.239_242del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73641318T>A | CA347288298 | ALMS1P1,NAT8 | c.311A>T (p.Glu104Val) n.236T>A | |
2 | g.73641318T>C | CA347288300 | ALMS1P1,NAT8 | c.311A>G (p.Glu104Gly) n.236T>C | |
2 | g.73641318T>G | CA347288304 | ALMS1P1,NAT8 | c.311A>C (p.Glu104Ala) n.236T>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73641318T= | CA1261057273 | ALMS1P1,NAT8 | c.311A= (p.Glu104=) n.236T= | |
2 | g.73641319C>A | CA347288308 | ALMS1P1,NAT8 | c.310G>T (p.Glu104Ter) n.237C>A | |
2 | g.73641319C= | CA1261057274 | ALMS1P1,NAT8 | c.310G= (p.Glu104=) n.237C= | |
2 | g.73641319C>G | CA347288309 | ALMS1P1,NAT8 | c.310G>C (p.Glu104Gln) n.237C>G | dbSNP |
2 | g.73641319C>T | CA1715734 | ALMS1P1,NAT8 | c.310G>A (p.Glu104Lys) n.237C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641320A= | CA1261057275 | ALMS1P1,NAT8 | c.309T= (p.Ser103=) n.238A= | |
2 | g.73641320A>C | CA347288310 | ALMS1P1,NAT8 | c.309T>G (p.Ser103Arg) n.238A>C | |
2 | g.73641320A>G | CA50371455 | ALMS1P1,NAT8 | c.309T>C (p.Ser103=) n.238A>G | dbSNP gnomAD v4 |
2 | g.73641320A>T | CA347288313 | ALMS1P1,NAT8 | c.309T>A (p.Ser103Arg) n.238A>T | |
2 | g.73641320dup | CA2659622952 | ALMS1P1,NAT8 | c.309dup (p.Glu104Ter) n.238dup | gnomAD v4 |
2 | g.73641321C>A | CA347288326 | ALMS1P1,NAT8 | c.308G>T (p.Ser103Ile) n.239C>A | |
2 | g.73641321C= | CA1261057276 | ALMS1P1,NAT8 | c.308G= (p.Ser103=) n.239C= | |
2 | g.73641321C>G | CA347288322 | ALMS1P1,NAT8 | c.308G>C (p.Ser103Thr) n.239C>G | |
2 | g.73641321C>T | CA1715735 | ALMS1P1,NAT8 | c.308G>A (p.Ser103Asn) n.239C>T | dbSNP ExAC gnomAD v4 |
2 | g.73641322T>A | CA347288330 | ALMS1P1,NAT8 | c.307A>T (p.Ser103Cys) n.240T>A | |
2 | g.73641322T>C | CA347288333 | ALMS1P1,NAT8 | c.307A>G (p.Ser103Gly) n.240T>C | |
2 | g.73641322T>G | CA347288337 | ALMS1P1,NAT8 | c.307A>C (p.Ser103Arg) n.240T>G | |
2 | g.73641323C>A | CA427024899 | ALMS1P1,NAT8 | c.306G>T (p.Leu102=) n.241C>A | |
2 | g.73641323C= | CA1261057277 | ALMS1P1,NAT8 | c.306G= (p.Leu102=) n.241C= | |
2 | g.73641323C>G | CA427024900 | ALMS1P1,NAT8 | c.306G>C (p.Leu102=) n.241C>G | dbSNP |
2 | g.73641323C>T | CA427024901 | ALMS1P1,NAT8 | c.306G>A (p.Leu102=) n.241C>T | |
2 | g.73641324A= | CA1261057278 | ALMS1P1,NAT8 | c.305T= (p.Leu102=) n.242A= | |
2 | g.73641324A>C | CA347288342 | ALMS1P1,NAT8 | c.305T>G (p.Leu102Arg) n.242A>C | |
2 | g.73641324A>G | CA347288346 | ALMS1P1,NAT8 | c.305T>C (p.Leu102Pro) n.242A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.73641324A>T | CA347288350 | ALMS1P1,NAT8 | c.305T>A (p.Leu102Gln) n.242A>T | dbSNP |
2 | g.73641327_73641330del | CA2659622953 | ALMS1P1,NAT8 | c.302_305del (p.Tyr101Ter) n.243+2_243+5del | gnomAD v4 |
2 | g.73641325G>A | CA427024904 | ALMS1P1,NAT8 | c.304C>T (p.Leu102=) n.243G>A | |
2 | g.73641325G>C | CA347288356 | ALMS1P1,NAT8 | c.304C>G (p.Leu102Val) n.243G>C | |
2 | g.73641325G= | CA1261057279 | ALMS1P1,NAT8 | c.304C= (p.Leu102=) n.243G= | |
2 | g.73641325G>T | CA1715736 | ALMS1P1,NAT8 | c.304C>A (p.Leu102Met) n.243G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641326del | CA2659622954 | ALMS1P1,NAT8 | c.304del (p.Leu102Ter) n.243+1del | gnomAD v4 |
2 | g.73641326G>A | CA427024909 | ALMS1P1,NAT8 | c.303C>T (p.Tyr101=) n.243+1G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73641326G>C | CA347288364 | ALMS1P1,NAT8 | c.303C>G (p.Tyr101Ter) n.243+1G>C | |
2 | g.73641326G= | CA1261057280 | ALMS1P1,NAT8 | c.303C= (p.Tyr101=) n.243+1G= | |
2 | g.73641326G>T | CA1715737 | ALMS1P1,NAT8 | c.303C>A (p.Tyr101Ter) n.243+1G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641327T>A | CA347288376 | ALMS1P1,NAT8 | c.302A>T (p.Tyr101Phe) n.243+2T>A | |
2 | g.73641327T>C | CA347288379 | ALMS1P1,NAT8 | c.302A>G (p.Tyr101Cys) n.243+2T>C | |
2 | g.73641327T>G | CA347288383 | ALMS1P1,NAT8 | c.302A>C (p.Tyr101Ser) n.243+2T>G | |
2 | g.73641328A>C | CA347288400 | ALMS1P1,NAT8 | c.301T>G (p.Tyr101Asp) n.243+3A>C | |
2 | g.73641328A>G | CA347288390 | ALMS1P1,NAT8 | c.301T>C (p.Tyr101His) n.243+3A>G | |
2 | g.73641328A>T | CA347288394 | ALMS1P1,NAT8 | c.301T>A (p.Tyr101Asn) n.243+3A>T | |
2 | g.73641329G>A | CA427024912 | ALMS1P1,NAT8 | c.300C>T (p.Ser100=) n.243+4G>A | gnomAD v4 |
2 | g.73641329G>C | CA427024917 | ALMS1P1,NAT8 | c.300C>G (p.Ser100=) n.243+4G>C | |
2 | g.73641329G>T | CA427024914 | ALMS1P1,NAT8 | c.300C>A (p.Ser100=) n.243+4G>T | |
2 | g.73641330del | CA2659622955 | ALMS1P1,NAT8 | c.300del (p.Tyr101ThrfsTer2) n.243+5del | gnomAD v4 |
2 | g.73641330G>A | CA347288406 | ALMS1P1,NAT8 | c.299C>T (p.Ser100Phe) n.243+5G>A | dbSNP gnomAD v4 |
2 | g.73641330G>C | CA347288410 | ALMS1P1,NAT8 | c.299C>G (p.Ser100Cys) n.243+5G>C | gnomAD v4 |
2 | g.73641330G= | CA1261057281 | ALMS1P1,NAT8 | c.299C= (p.Ser100=) n.243+5G= | |
2 | g.73641330G>T | CA347288416 | ALMS1P1,NAT8 | c.299C>A (p.Ser100Tyr) n.243+5G>T | |
2 | g.73641331A>C | CA347288422 | ALMS1P1,NAT8 | c.298T>G (p.Ser100Ala) n.243+6A>C | |
2 | g.73641331A>G | CA347288426 | ALMS1P1,NAT8 | c.298T>C (p.Ser100Pro) n.243+6A>G | |
2 | g.73641331A>T | CA347288430 | ALMS1P1,NAT8 | c.298T>A (p.Ser100Thr) n.243+6A>T | |
2 | g.73641332T>A | CA347288439 | ALMS1P1,NAT8 | c.297A>T (p.Lys99Asn) n.243+7T>A | |
2 | g.73641332T>C | CA427024920 | ALMS1P1,NAT8 | c.297A>G (p.Lys99=) n.243+7T>C | |
2 | g.73641332T>G | CA347288440 | ALMS1P1,NAT8 | c.297A>C (p.Lys99Asn) n.243+7T>G | |
2 | g.73641333T>A | CA347288445 | ALMS1P1,NAT8 | c.296A>T (p.Lys99Ile) n.243+8T>A | |
2 | g.73641333T>C | CA347288448 | ALMS1P1,NAT8 | c.296A>G (p.Lys99Arg) n.243+8T>C | gnomAD v4 |
2 | g.73641333T>G | CA347288452 | ALMS1P1,NAT8 | c.296A>C (p.Lys99Thr) n.243+8T>G | |
2 | g.73641334T>A | CA347288455 | ALMS1P1,NAT8 | c.295A>T (p.Lys99Ter) n.243+9T>A | |
2 | g.73641334T>C | CA347288469 | ALMS1P1,NAT8 | c.295A>G (p.Lys99Glu) n.243+9T>C | |
2 | g.73641334T>G | CA347288458 | ALMS1P1,NAT8 | c.295A>C (p.Lys99Gln) n.243+9T>G | |
2 | g.73641335G>A | CA427024921 | ALMS1P1,NAT8 | c.294C>T (p.Thr98=) n.243+10G>A | |
2 | g.73641335G>C | CA427024922 | ALMS1P1,NAT8 | c.294C>G (p.Thr98=) n.243+10G>C | gnomAD v4 |
2 | g.73641335G>T | CA427024923 | ALMS1P1,NAT8 | c.294C>A (p.Thr98=) n.243+10G>T | |
2 | g.73641336G>A | CA347288474 | ALMS1P1,NAT8 | c.293C>T (p.Thr98Ile) n.243+11G>A | dbSNP gnomAD v4 |
2 | g.73641336G>C | CA347288480 | ALMS1P1,NAT8 | c.293C>G (p.Thr98Ser) n.243+11G>C | |
2 | g.73641336G>T | CA347288479 | ALMS1P1,NAT8 | c.293C>A (p.Thr98Asn) n.243+11G>T | |
2 | g.73641337T>A | CA347288481 | ALMS1P1,NAT8 | c.292A>T (p.Thr98Ser) n.243+12T>A | |
2 | g.73641337T>C | CA347288486 | ALMS1P1,NAT8 | c.292A>G (p.Thr98Ala) n.243+12T>C | |
2 | g.73641337T>G | CA347288483 | ALMS1P1,NAT8 | c.292A>C (p.Thr98Pro) n.243+12T>G | |
2 | g.73641338A>C | CA347288489 | ALMS1P1,NAT8 | c.291T>G (p.Ile97Met) n.243+13A>C | |
2 | g.73641338A>G | CA427024926 | ALMS1P1,NAT8 | c.291T>C (p.Ile97=) n.243+13A>G | gnomAD v4 |
2 | g.73641338A>T | CA427024928 | ALMS1P1,NAT8 | c.291T>A (p.Ile97=) n.243+13A>T | |
2 | g.73641339A= | CA1261057282 | ALMS1P1,NAT8 | c.290T= (p.Ile97=) n.243+14A= | |
2 | g.73641339A>C | CA347288504 | ALMS1P1,NAT8 | c.290T>G (p.Ile97Ser) n.243+14A>C | |
2 | g.73641339A>G | CA347288496 | ALMS1P1,NAT8 | c.290T>C (p.Ile97Thr) n.243+14A>G | dbSNP gnomAD v4 |
2 | g.73641339A>T | CA347288499 | ALMS1P1,NAT8 | c.290T>A (p.Ile97Asn) n.243+14A>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73641340T>A | CA347288505 | ALMS1P1,NAT8 | c.289A>T (p.Ile97Phe) n.243+15T>A | |
2 | g.73641340T>C | CA347288506 | ALMS1P1,NAT8 | c.289A>G (p.Ile97Val) n.243+15T>C | gnomAD v4 |
2 | g.73641340T>G | CA347288507 | ALMS1P1,NAT8 | c.289A>C (p.Ile97Leu) n.243+15T>G | |
2 | g.73641341G>A | CA427024931 | ALMS1P1,NAT8 | c.288C>T (p.Asp96=) n.243+16G>A | |
2 | g.73641341G>C | CA347288510 | ALMS1P1,NAT8 | c.288C>G (p.Asp96Glu) n.243+16G>C | |
2 | g.73641341G>T | CA347288515 | ALMS1P1,NAT8 | c.288C>A (p.Asp96Glu) n.243+16G>T | |
2 | g.73641342T>A | CA347288520 | ALMS1P1,NAT8 | c.287A>T (p.Asp96Val) n.243+17T>A | |
2 | g.73641342T>C | CA50371469 | ALMS1P1,NAT8 | c.287A>G (p.Asp96Gly) n.243+17T>C | dbSNP |
2 | g.73641342T>G | CA347288529 | ALMS1P1,NAT8 | c.287A>C (p.Asp96Ala) n.243+17T>G | gnomAD v4 |
2 | g.73641342T= | CA1261057283 | ALMS1P1,NAT8 | c.287A= (p.Asp96=) n.243+17T= | |
2 | g.73641343C>A | CA347288540 | ALMS1P1,NAT8 | c.286G>T (p.Asp96Tyr) n.243+18C>A | |
2 | g.73641343C= | CA1261057284 | ALMS1P1,NAT8 | c.286G= (p.Asp96=) n.243+18C= | |
2 | g.73641343C>G | CA347288543 | ALMS1P1,NAT8 | c.286G>C (p.Asp96His) n.243+18C>G | |
2 | g.73641343C>T | CA347288544 | ALMS1P1,NAT8 | c.286G>A (p.Asp96Asn) n.243+18C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73641344A= | CA1261057285 | ALMS1P1,NAT8 | c.285T= (p.Ser95=) n.243+19A= | |
2 | g.73641344A>C | CA427024935 | ALMS1P1,NAT8 | c.285T>G (p.Ser95=) n.243+19A>C | |
2 | g.73641344A>G | CA427024936 | ALMS1P1,NAT8 | c.285T>C (p.Ser95=) n.243+19A>G | dbSNP |
2 | g.73641344A>T | CA427024938 | ALMS1P1,NAT8 | c.285T>A (p.Ser95=) n.243+19A>T | |
2 | g.73641344dup | CA2659622956 | ALMS1P1,NAT8 | c.285dup (p.Asp96Ter) n.243+19dup | gnomAD v4 |
2 | g.73641345G>A | CA347288545 | ALMS1P1,NAT8 | c.284C>T (p.Ser95Phe) n.243+20G>A | gnomAD v4 |
2 | g.73641345G>C | CA347288547 | ALMS1P1,NAT8 | c.284C>G (p.Ser95Cys) n.243+20G>C | |
2 | g.73641345G= | CA1261057286 | ALMS1P1,NAT8 | c.284C= (p.Ser95=) n.243+20G= | |
2 | g.73641345G>T | CA50371475 | ALMS1P1,NAT8 | c.284C>A (p.Ser95Tyr) n.243+20G>T | dbSNP |
2 | g.73641346A= | CA1261057287 | ALMS1P1,NAT8 | c.283T= (p.Ser95=) n.243+21A= | |
2 | g.73641346A>C | CA347288552 | ALMS1P1,NAT8 | c.283T>G (p.Ser95Ala) n.243+21A>C | |
2 | g.73641346A>G | CA347288556 | ALMS1P1,NAT8 | c.283T>C (p.Ser95Pro) n.243+21A>G | |
2 | g.73641346A>T | CA1715738 | ALMS1P1,NAT8 | c.283T>A (p.Ser95Thr) n.243+21A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641347C>A | CA347289733 | ALMS1P1,NAT8 | c.282G>T (p.Met94Ile) n.243+22C>A | |
2 | g.73641347C= | CA1261057288 | ALMS1P1,NAT8 | c.282G= (p.Met94=) n.243+22C= | |
2 | g.73641347C>G | CA347289745 | ALMS1P1,NAT8 | c.282G>C (p.Met94Ile) n.243+22C>G | |
2 | g.73641347C>T | CA1715739 | ALMS1P1,NAT8 | c.282G>A (p.Met94Ile) n.243+22C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641348A= | CA1261057289 | ALMS1P1,NAT8 | c.281T= (p.Met94=) n.243+23A= | |
2 | g.73641348A>C | CA347289758 | ALMS1P1,NAT8 | c.281T>G (p.Met94Arg) n.243+23A>C | dbSNP |
2 | g.73641348A>G | CA1715740 | ALMS1P1,NAT8 | c.281T>C (p.Met94Thr) n.243+23A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641348A>T | CA347289765 | ALMS1P1,NAT8 | c.281T>A (p.Met94Lys) n.243+23A>T | |
2 | g.73641349T>A | CA347289778 | ALMS1P1,NAT8 | c.280A>T (p.Met94Leu) n.243+24T>A | |
2 | g.73641349T>C | CA347289773 | ALMS1P1,NAT8 | c.280A>G (p.Met94Val) n.243+24T>C | |
2 | g.73641349T>G | CA347289770 | ALMS1P1,NAT8 | c.280A>C (p.Met94Leu) n.243+24T>G | |
2 | g.73641350G>A | CA427024696 | ALMS1P1,NAT8 | c.279C>T (p.Asp93=) n.243+25G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641350G>C | CA347289780 | ALMS1P1,NAT8 | c.279C>G (p.Asp93Glu) n.243+25G>C | gnomAD v4 |
2 | g.73641350G= | CA1261057290 | ALMS1P1,NAT8 | c.279C= (p.Asp93=) n.243+25G= | |
2 | g.73641350G>T | CA347289783 | ALMS1P1,NAT8 | c.279C>A (p.Asp93Glu) n.243+25G>T | |
2 | g.73641351T>A | CA347289790 | ALMS1P1,NAT8 | c.278A>T (p.Asp93Val) n.243+26T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641351T>C | CA347289793 | ALMS1P1,NAT8 | c.278A>G (p.Asp93Gly) n.243+26T>C | |
2 | g.73641351T>G | CA347289797 | ALMS1P1,NAT8 | c.278A>C (p.Asp93Ala) n.243+26T>G | |
2 | g.73641351T= | CA1261057292 | ALMS1P1,NAT8 | c.278A= (p.Asp93=) n.243+26T= | |
2 | g.73641351_73641352delinsTC | CA1261057291 | ALMS1P1,NAT8 | c.277_278delinsGA (p.Asp93=) n.243+26_243+27delinsTC | |
2 | g.73641352_73641353del | CA2750471118 | ALMS1P1,NAT8 | c.277_278del (p.Asp93HisfsTer3) n.243+27_243+28del | |
2 | g.73641352del | CA1715741 | ALMS1P1,NAT8 | c.277del (p.Asp93ThrfsTer10) n.243+27del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73641352C>A | CA347289798 | ALMS1P1,NAT8 | c.277G>T (p.Asp93Tyr) n.243+27C>A | |
2 | g.73641352C>G | CA347289799 | ALMS1P1,NAT8 | c.277G>C (p.Asp93His) n.243+27C>G | |
2 | g.73641352C>T | CA347289800 | ALMS1P1,NAT8 | c.277G>A (p.Asp93Asn) n.243+27C>T | |
2 | g.73641353T>A | CA427024699 | ALMS1P1,NAT8 | c.276A>T (p.Thr92=) n.243+28T>A | |
2 | g.73641353T>C | CA427024700 | ALMS1P1,NAT8 | c.276A>G (p.Thr92=) n.243+28T>C | |
2 | g.73641353T>G | CA1715742 | ALMS1P1,NAT8 | c.276A>C (p.Thr92=) n.243+28T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641353T= | CA1261057293 | ALMS1P1,NAT8 | c.276A= (p.Thr92=) n.243+28T= | |
2 | g.73641354G>A | CA347289820 | ALMS1P1,NAT8 | c.275C>T (p.Thr92Ile) n.243+29G>A | dbSNP |
2 | g.73641354G>C | CA347289824 | ALMS1P1,NAT8 | c.275C>G (p.Thr92Arg) n.243+29G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73641354G= | CA1261057294 | ALMS1P1,NAT8 | c.275C= (p.Thr92=) n.243+29G= | |
2 | g.73641354G>T | CA347289826 | ALMS1P1,NAT8 | c.275C>A (p.Thr92Lys) n.243+29G>T | gnomAD v4 |
2 | g.73641355T>A | CA347289830 | ALMS1P1,NAT8 | c.274A>T (p.Thr92Ser) n.243+30T>A | |
2 | g.73641355T>C | CA347289839 | ALMS1P1,NAT8 | c.274A>G (p.Thr92Ala) n.243+30T>C | |
2 | g.73641355T>G | CA347289836 | ALMS1P1,NAT8 | c.274A>C (p.Thr92Pro) n.243+30T>G | dbSNP |
2 | g.73641355T= | CA1261057295 | ALMS1P1,NAT8 | c.274A= (p.Thr92=) n.243+30T= |