X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del
| ClinVar |
X | g.25013429A= | CA2420209260 | ARX | c.566T= (p.Leu189=)
| |
X | g.25013429A>C | CA412612900 | ARX | c.566T>G (p.Leu189Arg)
| |
X | g.25013429A>G | CA412612902 | ARX | c.566T>C (p.Leu189Pro)
| dbSNP gnomAD v4 |
X | g.25013429A>T | CA412612901 | ARX | c.566T>A (p.Leu189Gln)
| gnomAD v4 |
X | g.25013430G>A | CA515948223 | ARX | c.565C>T (p.Leu189=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013430G>C | CA412612903 | ARX | c.565C>G (p.Leu189Val)
| |
X | g.25013430G= | CA2420209261 | ARX | c.565C= (p.Leu189=)
| |
X | g.25013430G>T | CA412612904 | ARX | c.565C>A (p.Leu189Met)
| gnomAD v4 |
X | g.25013431C>A | CA515948224 | ARX | c.564G>T (p.Ala188=)
| gnomAD v4 |
X | g.25013431C= | CA2420209262 | ARX | c.564G= (p.Ala188=)
| |
X | g.25013431C>G | CA515948226 | ARX | c.564G>C (p.Ala188=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013431C>T | CA515948229 | ARX | c.564G>A (p.Ala188=)
| gnomAD v4 |
X | g.25013432G>A | CA412612905 | ARX | c.563C>T (p.Ala188Val)
| gnomAD v4 |
X | g.25013432G>C | CA412612906 | ARX | c.563C>G (p.Ala188Gly)
| ClinVar dbSNP |
X | g.25013432G= | CA2420209264 | ARX | c.563C= (p.Ala188=)
| |
X | g.25013432G>T | CA412612907 | ARX | c.563C>A (p.Ala188Glu)
| dbSNP gnomAD v4 |
X | g.25013432_25013433delinsGC | CA2420209263 | ARX | c.562_563delinsGC (p.Ala188=)
| |
X | g.25013432_25013433delinsTA | CA213324 | ARX | c.562_563delinsTA (p.Ala188Ter)
| ClinVar dbSNP |
X | g.25013433del | CA2693353698 | ARX | c.562del (p.Ala188ArgfsTer?)
| gnomAD v4 |
X | g.25013433C>A | CA412612908 | ARX | c.562G>T (p.Ala188Ser)
| gnomAD v4 |
X | g.25013433C>G | CA412612909 | ARX | c.562G>C (p.Ala188Pro)
| |
X | g.25013433C>T | CA412612910 | ARX | c.562G>A (p.Ala188Thr)
| gnomAD v4 |
X | g.25013434G>A | CA515948234 | ARX | c.561C>T (p.Pro187=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013434G>C | CA515948235 | ARX | c.561C>G (p.Pro187=)
| ClinVar gnomAD v4 |
X | g.25013434G= | CA2420209266 | ARX | c.561C= (p.Pro187=)
| |
X | g.25013434G>T | CA515948238 | ARX | c.561C>A (p.Pro187=)
| gnomAD v4 |
X | g.25013434_25013436del | CA2820100838 | ARX | c.559_561del (p.Pro187del)
| |
X | g.25013436del | CA2693353699 | ARX | c.561del (p.Ala188ArgfsTer?)
| gnomAD v4 |
X | g.25013434_25013437delinsGGGC | CA2420209265 | ARX | c.558_561delinsGCCC (p.Pro186=)
| |
X | g.25013435G>A | CA412612911 | ARX | c.560C>T (p.Pro187Leu)
| gnomAD v4 |
X | g.25013435G>C | CA412612912 | ARX | c.560C>G (p.Pro187Arg)
| |
X | g.25013435G>T | CA412612913 | ARX | c.560C>A (p.Pro187His)
| gnomAD v4 |
X | g.25013444_25013446dup | CA641364633 | ARX | c.558_560dup (p.Pro187_Ala188insPro)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013444_25013446del | CA641364632 | ARX | c.558_560del (p.Pro187del)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013436G>A | CA412612916 | ARX | c.559C>T (p.Pro187Ser)
| gnomAD v4 |
X | g.25013436G>C | CA412612914 | ARX | c.559C>G (p.Pro187Ala)
| |
X | g.25013436G>T | CA412612915 | ARX | c.559C>A (p.Pro187Thr)
| gnomAD v4 |
X | g.25013437del | CA2693353700 | ARX | c.558del (p.Ala188ArgfsTer?)
| gnomAD v4 |
X | g.25013437C>A | CA10373894 | ARX | c.558G>T (p.Pro186=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013437C= | CA2420209267 | ARX | c.558G= (p.Pro186=)
| |
X | g.25013437C>G | CA515948247 | ARX | c.558G>C (p.Pro186=)
| gnomAD v4 |
X | g.25013437C>T | CA515948244 | ARX | c.558G>A (p.Pro186=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013438G>A | CA412612917 | ARX | c.557C>T (p.Pro186Leu)
| gnomAD v4 |
X | g.25013438G>C | CA412612918 | ARX | c.557C>G (p.Pro186Arg)
| |
X | g.25013438G= | CA2420209268 | ARX | c.557C= (p.Pro186=)
| |
X | g.25013438G>T | CA16609171 | ARX | c.557C>A (p.Pro186Gln)
| ClinVar dbSNP gnomAD v4 |
X | g.25013439dup | CA2740097963 | ARX | c.557dup (p.Pro187AlafsTer?)
| ClinVar |
X | g.25013439G>A | CA412612919 | ARX | c.556C>T (p.Pro186Ser)
| gnomAD v4 |
X | g.25013439G>C | CA412612920 | ARX | c.556C>G (p.Pro186Ala)
| gnomAD v4 |
X | g.25013439G>T | CA412612921 | ARX | c.556C>A (p.Pro186Thr)
| gnomAD v4 |
X | g.25013440del | CA2693353701 | ARX | c.555del (p.Pro186ArgfsTer?)
| gnomAD v4 |
X | g.25013440C>A | CA515948253 | ARX | c.555G>T (p.Pro185=)
| gnomAD v4 |
X | g.25013440C= | CA2420209269 | ARX | c.555G= (p.Pro185=)
| |
X | g.25013440C>G | CA515948251 | ARX | c.555G>C (p.Pro185=)
| gnomAD v4 |
X | g.25013440C>T | CA515948252 | ARX | c.555G>A (p.Pro185=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013441G>A | CA412612922 | ARX | c.554C>T (p.Pro185Leu)
| gnomAD v4 |
X | g.25013441G>C | CA412612923 | ARX | c.554C>G (p.Pro185Arg)
| gnomAD v4 |
X | g.25013441G= | CA2420209270 | ARX | c.554C= (p.Pro185=)
| |
X | g.25013441G>T | CA327733053 | ARX | c.554C>A (p.Pro185Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013442G>A | CA412612926 | ARX | c.553C>T (p.Pro185Ser)
| ClinVar dbSNP gnomAD v4 |
X | g.25013442G>C | CA412612925 | ARX | c.553C>G (p.Pro185Ala)
| gnomAD v4 |
X | g.25013442G= | CA2420209271 | ARX | c.553C= (p.Pro185=)
| |
X | g.25013442G>T | CA412612924 | ARX | c.553C>A (p.Pro185Thr)
| gnomAD v4 |
X | g.25013447_25013547del | CA2820100839 | ARX | c.453_553del (p.Ala154ArgfsTer?)
| |
X | g.25013443C>A | CA515948259 | ARX | c.552G>T (p.Pro184=)
| gnomAD v4 |
X | g.25013443C>G | CA515948260 | ARX | c.552G>C (p.Pro184=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013443C>T | CA515948258 | ARX | c.552G>A (p.Pro184=)
| ClinVar gnomAD v4 COSMIC |
X | g.25013444G>A | CA412612927 | ARX | c.551C>T (p.Pro184Leu)
| gnomAD v3 gnomAD v4 |
X | g.25013444G>C | CA412612928 | ARX | c.551C>G (p.Pro184Arg)
| ClinVar dbSNP gnomAD v4 |
X | g.25013444G= | CA2420209272 | ARX | c.551C= (p.Pro184=)
| |
X | g.25013444G>T | CA412612929 | ARX | c.551C>A (p.Pro184Gln)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013445G>A | CA412612930 | ARX | c.550C>T (p.Pro184Ser)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013445G>C | CA412612931 | ARX | c.550C>G (p.Pro184Ala)
| ClinVar gnomAD v4 |
X | g.25013445G= | CA2420209273 | ARX | c.550C= (p.Pro184=)
| |
X | g.25013445G>T | CA412612932 | ARX | c.550C>A (p.Pro184Thr)
| gnomAD v4 |
X | g.25013446C>A | CA515948271 | ARX | c.549G>T (p.Val183=)
| gnomAD v4 |
X | g.25013446C= | CA2420209274 | ARX | c.549G= (p.Val183=)
| |
X | g.25013446C>G | CA515948273 | ARX | c.549G>C (p.Val183=)
| gnomAD v4 |
X | g.25013446C>T | CA515948276 | ARX | c.549G>A (p.Val183=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25013447A>C | CA412612933 | ARX | c.548T>G (p.Val183Gly)
| |
X | g.25013447A>G | CA412612934 | ARX | c.548T>C (p.Val183Ala)
| gnomAD v4 |
X | g.25013447A>T | CA412612935 | ARX | c.548T>A (p.Val183Glu)
| |
X | g.25013448C>A | CA412612936 | ARX | c.547G>T (p.Val183Leu)
| gnomAD v4 |
X | g.25013448C>G | CA412612937 | ARX | c.547G>C (p.Val183Leu)
| ClinVar |
X | g.25013448C>T | CA412612938 | ARX | c.547G>A (p.Val183Met)
| gnomAD v4 |
X | g.25013449G>A | CA515948284 | ARX | c.546C>T (p.Phe182=)
| gnomAD v4 |
X | g.25013449G>C | CA412612940 | ARX | c.546C>G (p.Phe182Leu)
| |
X | g.25013449G>T | CA412612939 | ARX | c.546C>A (p.Phe182Leu)
| gnomAD v4 |
X | g.25013450A>C | CA412612941 | ARX | c.545T>G (p.Phe182Cys)
| |
X | g.25013450A>G | CA412612942 | ARX | c.545T>C (p.Phe182Ser)
| gnomAD v4 |
X | g.25013450A>T | CA412612943 | ARX | c.545T>A (p.Phe182Tyr)
| gnomAD v4 |
X | g.25013451del | CA2693353702 | ARX | c.545del (p.Phe182SerfsTer?)
| gnomAD v4 |
X | g.25013451A>C | CA412612944 | ARX | c.544T>G (p.Phe182Val)
| gnomAD v4 |
X | g.25013451A>G | CA412612945 | ARX | c.544T>C (p.Phe182Leu)
| gnomAD v4 |
X | g.25013451A>T | CA412612946 | ARX | c.544T>A (p.Phe182Ile)
| gnomAD v4 |
X | g.25013452G>A | CA289511 | ARX | c.543C>T (p.Pro181=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013452G>C | CA515948293 | ARX | c.543C>G (p.Pro181=)
| |
X | g.25013452G= | CA2420209275 | ARX | c.543C= (p.Pro181=)
| |
X | g.25013452G>T | CA515948294 | ARX | c.543C>A (p.Pro181=)
| gnomAD v4 |
X | g.25013453G>A | CA412612947 | ARX | c.542C>T (p.Pro181Leu)
| gnomAD v4 |
X | g.25013453G>C | CA412612948 | ARX | c.542C>G (p.Pro181Arg)
| |
X | g.25013453G>T | CA412612949 | ARX | c.542C>A (p.Pro181His)
| gnomAD v4 |
X | g.25013454G>A | CA412612950 | ARX | c.541C>T (p.Pro181Ser)
| ClinVar gnomAD v4 |
X | g.25013454G>C | CA412612951 | ARX | c.541C>G (p.Pro181Ala)
| gnomAD v4 |
X | g.25013454G>T | CA412612952 | ARX | c.541C>A (p.Pro181Thr)
| ClinVar dbSNP gnomAD v4 |
X | g.25013455C>A | CA241831 | ARX | c.540G>T (p.Ala180=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013455C= | CA2420209276 | ARX | c.540G= (p.Ala180=)
| |
X | g.25013455C>G | CA515947493 | ARX | c.540G>C (p.Ala180=)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013455C>T | CA515947492 | ARX | c.540G>A (p.Ala180=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013456G>A | CA412612954 | ARX | c.539C>T (p.Ala180Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013456G>C | CA412612953 | ARX | c.539C>G (p.Ala180Gly)
| gnomAD v4 |
X | g.25013456G= | CA2420209277 | ARX | c.539C= (p.Ala180=)
| |
X | g.25013456G>T | CA412612955 | ARX | c.539C>A (p.Ala180Glu)
| gnomAD v4 |
X | g.25013457C>A | CA412612956 | ARX | c.538G>T (p.Ala180Ser)
| gnomAD v4 |
X | g.25013457C= | CA2420209278 | ARX | c.538G= (p.Ala180=)
| |
X | g.25013457C>G | CA412612957 | ARX | c.538G>C (p.Ala180Pro)
| dbSNP |
X | g.25013457C>T | CA412612958 | ARX | c.538G>A (p.Ala180Thr)
| gnomAD v4 |
X | g.25013460del | CA2693353703 | ARX | c.538del (p.Ala180ArgfsTer?)
| gnomAD v4 |
X | g.25013458C>A | CA515947498 | ARX | c.537G>T (p.Gly179=)
| gnomAD v4 |
X | g.25013458C>G | CA515947499 | ARX | c.537G>C (p.Gly179=)
| gnomAD v4 |
X | g.25013458C>T | CA515947500 | ARX | c.537G>A (p.Gly179=)
| gnomAD v4 |
X | g.25013459C>A | CA412612959 | ARX | c.536G>T (p.Gly179Val)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013459C= | CA2420209279 | ARX | c.536G= (p.Gly179=)
| |
X | g.25013459C>G | CA412612960 | ARX | c.536G>C (p.Gly179Ala)
| gnomAD v4 |
X | g.25013459C>T | CA412612961 | ARX | c.536G>A (p.Gly179Glu)
| gnomAD v4 |
X | g.25013460C>A | CA412612962 | ARX | c.535G>T (p.Gly179Trp)
| gnomAD v4 |
X | g.25013460C= | CA2420209280 | ARX | c.535G= (p.Gly179=)
| |
X | g.25013460C>G | CA412612963 | ARX | c.535G>C (p.Gly179Arg)
| ClinVar dbSNP |
X | g.25013460C>T | CA412612964 | ARX | c.535G>A (p.Gly179Arg)
| gnomAD v4 |
X | g.25013460_25013461insT | CA2820100841 | ARX | c.534_535insA (p.Gly179ArgfsTer?)
| |
X | g.25013461G>A | CA515947501 | ARX | c.534C>T (p.Asn178=)
| gnomAD v4 |
X | g.25013461G>C | CA412612965 | ARX | c.534C>G (p.Asn178Lys)
| gnomAD v4 |
X | g.25013461G>T | CA412612966 | ARX | c.534C>A (p.Asn178Lys)
| gnomAD v4 |
X | g.25013462T>A | CA412612969 | ARX | c.533A>T (p.Asn178Ile)
| gnomAD v4 |
X | g.25013462T>C | CA412612968 | ARX | c.533A>G (p.Asn178Ser)
| gnomAD v4 |
X | g.25013462T>G | CA412612967 | ARX | c.533A>C (p.Asn178Thr)
| |
X | g.25013463T>A | CA412612970 | ARX | c.532A>T (p.Asn178Tyr)
| gnomAD v4 |
X | g.25013463T>C | CA412612971 | ARX | c.532A>G (p.Asn178Asp)
| gnomAD v4 |
X | g.25013463T>G | CA412612972 | ARX | c.532A>C (p.Asn178His)
| |
X | g.25013464C>A | CA412612973 | ARX | c.531G>T (p.Glu177Asp)
| gnomAD v4 |
X | g.25013464C>G | CA412612974 | ARX | c.531G>C (p.Glu177Asp)
| |
X | g.25013464C>T | CA515947508 | ARX | c.531G>A (p.Glu177=)
| gnomAD v4 |
X | g.25013465T>A | CA412612975 | ARX | c.530A>T (p.Glu177Val)
| gnomAD v4 |
X | g.25013465T>C | CA412612976 | ARX | c.530A>G (p.Glu177Gly)
| gnomAD v4 |
X | g.25013465T>G | CA412612977 | ARX | c.530A>C (p.Glu177Ala)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013465T= | CA2420209281 | ARX | c.530A= (p.Glu177=)
| |
X | g.25013466C>A | CA412612978 | ARX | c.529G>T (p.Glu177Ter)
| gnomAD v4 |
X | g.25013466C>G | CA412612979 | ARX | c.529G>C (p.Glu177Gln)
| |
X | g.25013466C>T | CA412612980 | ARX | c.529G>A (p.Glu177Lys)
| gnomAD v4 |
X | g.25013467G>A | CA10373895 | ARX | c.528C>T (p.Arg176=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013467G>C | CA515947515 | ARX | c.528C>G (p.Arg176=)
| |
X | g.25013467G= | CA2420209282 | ARX | c.528C= (p.Arg176=)
| |
X | g.25013467G>T | CA515947518 | ARX | c.528C>A (p.Arg176=)
| gnomAD v4 |
X | g.25013468C>A | CA412612983 | ARX | c.527G>T (p.Arg176Leu)
| gnomAD v4 |
X | g.25013468C>G | CA412612982 | ARX | c.527G>C (p.Arg176Pro)
| gnomAD v4 |
X | g.25013468C>T | CA412612981 | ARX | c.527G>A (p.Arg176His)
| gnomAD v4 |
X | g.25013469G>A | CA412612984 | ARX | c.526C>T (p.Arg176Cys)
| gnomAD v4 |
X | g.25013469G>C | CA412612985 | ARX | c.526C>G (p.Arg176Gly)
| |
X | g.25013469G>T | CA412612986 | ARX | c.526C>A (p.Arg176Ser)
| gnomAD v4 |
X | g.25013470G>A | CA515947523 | ARX | c.525C>T (p.Tyr175=)
| gnomAD v4 |
X | g.25013470G>C | CA412612987 | ARX | c.525C>G (p.Tyr175Ter)
| ClinVar dbSNP gnomAD v4 |
X | g.25013470G= | CA2420209283 | ARX | c.525C= (p.Tyr175=)
| |
X | g.25013470G>T | CA412612988 | ARX | c.525C>A (p.Tyr175Ter)
| gnomAD v4 |
X | g.25013471T>A | CA412612991 | ARX | c.524A>T (p.Tyr175Phe)
| gnomAD v4 |
X | g.25013471T>C | CA412612990 | ARX | c.524A>G (p.Tyr175Cys)
| gnomAD v4 |
X | g.25013471T>G | CA412612989 | ARX | c.524A>C (p.Tyr175Ser)
| |
X | g.25013472A= | CA2420209284 | ARX | c.523T= (p.Tyr175=)
| |
X | g.25013472A>C | CA412612992 | ARX | c.523T>G (p.Tyr175Asp)
| |
X | g.25013472A>G | CA412612993 | ARX | c.523T>C (p.Tyr175His)
| dbSNP gnomAD v4 |
X | g.25013472A>T | CA412612994 | ARX | c.523T>A (p.Tyr175Asn)
| gnomAD v4 |
X | g.25013473C>A | CA515947532 | ARX | c.522G>T (p.Ser174=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013473C= | CA2420209285 | ARX | c.522G= (p.Ser174=)
| |
X | g.25013473C>G | CA515947534 | ARX | c.522G>C (p.Ser174=)
| |
X | g.25013473C>T | CA515947537 | ARX | c.522G>A (p.Ser174=)
| gnomAD v4 |
X | g.25013474G>A | CA412612995 | ARX | c.521C>T (p.Ser174Leu)
| gnomAD v4 |
X | g.25013474G>C | CA412612996 | ARX | c.521C>G (p.Ser174Trp)
| |
X | g.25013474G>T | CA412612997 | ARX | c.521C>A (p.Ser174Ter)
| gnomAD v4 |
X | g.25013475A>C | CA412612998 | ARX | c.520T>G (p.Ser174Ala)
| |
X | g.25013475A>G | CA412613000 | ARX | c.520T>C (p.Ser174Pro)
| gnomAD v4 |
X | g.25013475A>T | CA412612999 | ARX | c.520T>A (p.Ser174Thr)
| gnomAD v4 |
X | g.25013476C>A | CA412613001 | ARX | c.519G>T (p.Lys173Asn)
| gnomAD v4 |
X | g.25013476C= | CA2420209286 | ARX | c.519G= (p.Lys173=)
| |
X | g.25013476C>G | CA412613002 | ARX | c.519G>C (p.Lys173Asn)
| gnomAD v4 |
X | g.25013476C>T | CA515947547 | ARX | c.519G>A (p.Lys173=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013477T>A | CA412613003 | ARX | c.518A>T (p.Lys173Met)
| gnomAD v4 |
X | g.25013477T>C | CA412613004 | ARX | c.518A>G (p.Lys173Arg)
| gnomAD v4 |
X | g.25013477T>G | CA412613005 | ARX | c.518A>C (p.Lys173Thr)
| |
X | g.25013478T>A | CA412613006 | ARX | c.517A>T (p.Lys173Ter)
| gnomAD v4 |
X | g.25013478T>C | CA412613007 | ARX | c.517A>G (p.Lys173Glu)
| gnomAD v4 |
X | g.25013478T>G | CA412613008 | ARX | c.517A>C (p.Lys173Gln)
| |
X | g.25013479G>A | CA515947557 | ARX | c.516C>T (p.Ser172=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013479G>C | CA412613009 | ARX | c.516C>G (p.Ser172Arg)
| gnomAD v4 |
X | g.25013479G= | CA2420209287 | ARX | c.516C= (p.Ser172=)
| |
X | g.25013479G>T | CA412613010 | ARX | c.516C>A (p.Ser172Arg)
| gnomAD v4 |
X | g.25013480C>A | CA412613013 | ARX | c.515G>T (p.Ser172Ile)
| gnomAD v4 |
X | g.25013480C>G | CA412613012 | ARX | c.515G>C (p.Ser172Thr)
| gnomAD v4 |
X | g.25013480C>T | CA412613011 | ARX | c.515G>A (p.Ser172Asn)
| gnomAD v4 |
X | g.25013481T>A | CA412613014 | ARX | c.514A>T (p.Ser172Cys)
| |
X | g.25013481T>C | CA412613016 | ARX | c.514A>G (p.Ser172Gly)
| gnomAD v4 |
X | g.25013481T>G | CA412613015 | ARX | c.514A>C (p.Ser172Arg)
| |
X | g.25013482del | CA2693353704 | ARX | c.513del (p.Ser172AlafsTer?)
| gnomAD v4 |
X | g.25013482G>A | CA515947565 | ARX | c.513C>T (p.Arg171=)
| gnomAD v4 |
X | g.25013482G>C | CA515947567 | ARX | c.513C>G (p.Arg171=)
| gnomAD v4 |
X | g.25013482G>T | CA515947568 | ARX | c.513C>A (p.Arg171=)
| gnomAD v4 |
X | g.25013483C>A | CA412613017 | ARX | c.512G>T (p.Arg171Leu)
| gnomAD v4 |
X | g.25013483C>G | CA412613018 | ARX | c.512G>C (p.Arg171Pro)
| gnomAD v4 |
X | g.25013483C>T | CA412613019 | ARX | c.512G>A (p.Arg171His)
| gnomAD v4 |
X | g.25013484G>A | CA412613020 | ARX | c.511C>T (p.Arg171Cys)
| gnomAD v4 |
X | g.25013484G>C | CA412613021 | ARX | c.511C>G (p.Arg171Gly)
| gnomAD v4 |
X | g.25013484G>T | CA412613022 | ARX | c.511C>A (p.Arg171Ser)
| gnomAD v4 |
X | g.25013485G>A | CA515947572 | ARX | c.510C>T (p.Ser170=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013485G>C | CA412613023 | ARX | c.510C>G (p.Ser170Arg)
| gnomAD v4 |
X | g.25013485G>T | CA412613024 | ARX | c.510C>A (p.Ser170Arg)
| gnomAD v4 |
X | g.25013486C>A | CA412613025 | ARX | c.509G>T (p.Ser170Ile)
| gnomAD v4 |
X | g.25013486C= | CA2420209288 | ARX | c.509G= (p.Ser170=)
| |
X | g.25013486C>G | CA412613027 | ARX | c.509G>C (p.Ser170Thr)
| gnomAD v4 |
X | g.25013486C>T | CA412613026 | ARX | c.509G>A (p.Ser170Asn)
| ClinVar dbSNP gnomAD v4 |
X | g.25013487T>A | CA412613028 | ARX | c.508A>T (p.Ser170Cys)
| gnomAD v4 |
X | g.25013487T>C | CA412613029 | ARX | c.508A>G (p.Ser170Gly)
| gnomAD v4 |
X | g.25013487T>G | CA412613030 | ARX | c.508A>C (p.Ser170Arg)
| gnomAD v4 |
X | g.25013488del | CA2820100843 | ARX | c.507del (p.Ser170AlafsTer?)
| |
X | g.25013488G>A | CA515947574 | ARX | c.507C>T (p.Ile169=)
| gnomAD v4 |
X | g.25013488G>C | CA412613031 | ARX | c.507C>G (p.Ile169Met)
| gnomAD v4 |
X | g.25013488G>T | CA515947576 | ARX | c.507C>A (p.Ile169=)
| gnomAD v4 |
X | g.25013489A= | CA2420209289 | ARX | c.506T= (p.Ile169=)
| |
X | g.25013489A>C | CA412613032 | ARX | c.506T>G (p.Ile169Ser)
| |
X | g.25013489A>G | CA412613034 | ARX | c.506T>C (p.Ile169Thr)
| gnomAD v4 |
X | g.25013489A>T | CA412613033 | ARX | c.506T>A (p.Ile169Asn)
| ClinVar dbSNP gnomAD v4 |
X | g.25013490T>A | CA412613035 | ARX | c.505A>T (p.Ile169Phe)
| |
X | g.25013490T>C | CA412613036 | ARX | c.505A>G (p.Ile169Val)
| gnomAD v4 |
X | g.25013490T>G | CA412613037 | ARX | c.505A>C (p.Ile169Leu)
| gnomAD v4 |
X | g.25013491del | CA2820100844 | ARX | c.504del (p.Ser168ArgfsTer?)
| |
X | g.25013491G>A | CA515947580 | ARX | c.504C>T (p.Ser168=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25013491G>C | CA412613038 | ARX | c.504C>G (p.Ser168Arg)
| gnomAD v4 |
X | g.25013491G= | CA2420209290 | ARX | c.504C= (p.Ser168=)
| |
X | g.25013491G>T | CA412613039 | ARX | c.504C>A (p.Ser168Arg)
| gnomAD v4 |
X | g.25013492C>A | CA412613040 | ARX | c.503G>T (p.Ser168Ile)
| gnomAD v4 |
X | g.25013492C>G | CA412613041 | ARX | c.503G>C (p.Ser168Thr)
| gnomAD v4 |
X | g.25013492C>T | CA412613042 | ARX | c.503G>A (p.Ser168Asn)
| gnomAD v4 |
X | g.25013493_25013494dup | CA1139771217 | ARX | c.502_503dup (p.Ser168ArgfsTer?)
| ClinVar dbSNP |
X | g.25013493T>A | CA412613043 | ARX | c.502A>T (p.Ser168Cys)
| gnomAD v4 |
X | g.25013493T>C | CA412613044 | ARX | c.502A>G (p.Ser168Gly)
| gnomAD v4 |
X | g.25013493T>G | CA412613045 | ARX | c.502A>C (p.Ser168Arg)
| |
X | g.25013494C>A | CA515947586 | ARX | c.501G>T (p.Val167=)
| gnomAD v4 |
X | g.25013494C= | CA2420209291 | ARX | c.501G= (p.Val167=)
| |
X | g.25013494C>G | CA515947587 | ARX | c.501G>C (p.Val167=)
| dbSNP gnomAD v4 |
X | g.25013494C>T | CA515947588 | ARX | c.501G>A (p.Val167=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013495A>C | CA412613046 | ARX | c.500T>G (p.Val167Gly)
| |
X | g.25013495A>G | CA412613048 | ARX | c.500T>C (p.Val167Ala)
| gnomAD v4 |
X | g.25013495A>T | CA412613047 | ARX | c.500T>A (p.Val167Glu)
| gnomAD v4 |
X | g.25013496C>A | CA412613049 | ARX | c.499G>T (p.Val167Leu)
| gnomAD v4 |
X | g.25013496C>G | CA412613050 | ARX | c.499G>C (p.Val167Leu)
| gnomAD v4 |
X | g.25013496C>T | CA412613051 | ARX | c.499G>A (p.Val167Met)
| gnomAD v4 |
X | g.25013497C>A | CA412613052 | ARX | c.498G>T (p.Gln166His)
| gnomAD v4 |
X | g.25013497C>G | CA412613053 | ARX | c.498G>C (p.Gln166His)
| |
X | g.25013497C>T | CA515947593 | ARX | c.498G>A (p.Gln166=)
| ClinVar gnomAD v4 |
X | g.25013498del | CA2693353705 | ARX | c.497del (p.Gln166ArgfsTer2)
| gnomAD v4 |
X | g.25013498T>A | CA412613054 | ARX | c.497A>T (p.Gln166Leu)
| gnomAD v4 |
X | g.25013498T>C | CA412613055 | ARX | c.497A>G (p.Gln166Arg)
| gnomAD v4 |
X | g.25013498T>G | CA412613056 | ARX | c.497A>C (p.Gln166Pro)
| gnomAD v4 |
X | g.25013499G>A | CA412613057 | ARX | c.496C>T (p.Gln166Ter)
| gnomAD v4 |
X | g.25013499G>C | CA412613058 | ARX | c.496C>G (p.Gln166Glu)
| gnomAD v4 |
X | g.25013499G>T | CA412613059 | ARX | c.496C>A (p.Gln166Lys)
| gnomAD v4 |
X | g.25013500C>A | CA515947594 | ARX | c.495G>T (p.Pro165=)
| ClinVar gnomAD v4 |
X | g.25013500C>G | CA515947595 | ARX | c.495G>C (p.Pro165=)
| gnomAD v4 |
X | g.25013500C>T | CA515947596 | ARX | c.495G>A (p.Pro165=)
| gnomAD v4 |
X | g.25013501G>A | CA412613062 | ARX | c.494C>T (p.Pro165Leu)
| gnomAD v4 |
X | g.25013501G>C | CA412613061 | ARX | c.494C>G (p.Pro165Arg)
| |
X | g.25013501G>T | CA412613060 | ARX | c.494C>A (p.Pro165Gln)
| gnomAD v4 |
X | g.25013502G>A | CA412613063 | ARX | c.493C>T (p.Pro165Ser)
| gnomAD v4 |
X | g.25013502G>C | CA412613064 | ARX | c.493C>G (p.Pro165Ala)
| gnomAD v4 |
X | g.25013502G>T | CA412613065 | ARX | c.493C>A (p.Pro165Thr)
| gnomAD v4 |
X | g.25013503C>A | CA515947598 | ARX | c.492G>T (p.Ala164=)
| gnomAD v4 |
X | g.25013503C>G | CA515947599 | ARX | c.492G>C (p.Ala164=)
| gnomAD v4 |
X | g.25013503C>T | CA515947600 | ARX | c.492G>A (p.Ala164=)
| ClinVar gnomAD v4 |
X | g.25013504G>A | CA412613066 | ARX | c.491C>T (p.Ala164Val)
| gnomAD v4 |
X | g.25013504G>C | CA412613067 | ARX | c.491C>G (p.Ala164Gly)
| gnomAD v4 |
X | g.25013504G>T | CA412613068 | ARX | c.491C>A (p.Ala164Glu)
| gnomAD v4 |
X | g.25013505C>A | CA412613069 | ARX | c.490G>T (p.Ala164Ser)
| gnomAD v4 |
X | g.25013505C>G | CA412613070 | ARX | c.490G>C (p.Ala164Pro)
| |
X | g.25013505C>T | CA412613071 | ARX | c.490G>A (p.Ala164Thr)
| gnomAD v4 |
X | g.25013506C>A | CA412613072 | ARX | c.489G>T (p.Gln163His)
| gnomAD v4 |
X | g.25013506C>G | CA412613073 | ARX | c.489G>C (p.Gln163His)
| |
X | g.25013506C>T | CA515947601 | ARX | c.489G>A (p.Gln163=)
| gnomAD v4 |
X | g.25013509_25013512del | CA2740092070 | ARX | c.486_489del (p.Ser162ArgfsTer5)
| ClinVar |
X | g.25013507T>A | CA412613076 | ARX | c.488A>T (p.Gln163Leu)
| gnomAD v4 |
X | g.25013507T>C | CA412613075 | ARX | c.488A>G (p.Gln163Arg)
| ClinVar dbSNP gnomAD v4 |
X | g.25013507T>G | CA412613074 | ARX | c.488A>C (p.Gln163Pro)
| gnomAD v4 |
X | g.25013508G>A | CA412613077 | ARX | c.487C>T (p.Gln163Ter)
| gnomAD v4 |
X | g.25013508G>C | CA412613079 | ARX | c.487C>G (p.Gln163Glu)
| gnomAD v4 |
X | g.25013508G>T | CA412613078 | ARX | c.487C>A (p.Gln163Lys)
| gnomAD v4 |
X | g.25013508_25013509del | CA2693353707 | ARX | c.486_487del (p.Ser162ArgfsTer?)
| gnomAD v4 |
X | g.25013509del | CA2693353706 | ARX | c.487del (p.Gln163ArgfsTer5)
| gnomAD v4 |
X | g.25013509G>A | CA515947606 | ARX | c.486C>T (p.Ser162=)
| gnomAD v4 |
X | g.25013509G>C | CA412613080 | ARX | c.486C>G (p.Ser162Arg)
| gnomAD v4 |
X | g.25013509G>T | CA412613081 | ARX | c.486C>A (p.Ser162Arg)
| gnomAD v4 |
X | g.25013510C>A | CA412613082 | ARX | c.485G>T (p.Ser162Ile)
| gnomAD v4 |
X | g.25013510C>G | CA412613083 | ARX | c.485G>C (p.Ser162Thr)
| gnomAD v4 |
X | g.25013510C>T | CA412613084 | ARX | c.485G>A (p.Ser162Asn)
| gnomAD v4 |
X | g.25013511T>A | CA412613085 | ARX | c.484A>T (p.Ser162Cys)
| gnomAD v4 |
X | g.25013511T>C | CA412613086 | ARX | c.484A>G (p.Ser162Gly)
| gnomAD v4 |
X | g.25013511T>G | CA412613087 | ARX | c.484A>C (p.Ser162Arg)
| |
X | g.25013512_25013514del | CA2693353708 | ARX | c.482_484del (p.Ile161del)
| gnomAD v4 |
X | g.25013512del | CA2820100845 | ARX | c.483del (p.Ser162AlafsTer6)
| |
X | g.25013512G>A | CA515947613 | ARX | c.483C>T (p.Ile161=)
| dbSNP gnomAD v4 |
X | g.25013512G>C | CA412613088 | ARX | c.483C>G (p.Ile161Met)
| |
X | g.25013512G= | CA2420209292 | ARX | c.483C= (p.Ile161=)
| |
X | g.25013512G>T | CA515947614 | ARX | c.483C>A (p.Ile161=)
| gnomAD v4 |
X | g.25013513A>C | CA412613089 | ARX | c.482T>G (p.Ile161Ser)
| |
X | g.25013513A>G | CA412613090 | ARX | c.482T>C (p.Ile161Thr)
| gnomAD v4 |
X | g.25013513A>T | CA412613091 | ARX | c.482T>A (p.Ile161Asn)
| gnomAD v4 |
X | g.25013514T>A | CA412613094 | ARX | c.481A>T (p.Ile161Phe)
| gnomAD v4 |
X | g.25013514T>C | CA412613092 | ARX | c.481A>G (p.Ile161Val)
| gnomAD v4 |
X | g.25013514T>G | CA412613093 | ARX | c.481A>C (p.Ile161Leu)
| |
X | g.25013515C>A | CA412613095 | ARX | c.480G>T (p.Lys160Asn)
| gnomAD v4 |
X | g.25013515C>G | CA412613096 | ARX | c.480G>C (p.Lys160Asn)
| |
X | g.25013515C>T | CA515947619 | ARX | c.480G>A (p.Lys160=)
| gnomAD v4 |
X | g.25013516T>A | CA412613097 | ARX | c.479A>T (p.Lys160Met)
| gnomAD v4 |
X | g.25013516T>C | CA412613098 | ARX | c.479A>G (p.Lys160Arg)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013516T>G | CA412613099 | ARX | c.479A>C (p.Lys160Thr)
| |
X | g.25013516T= | CA2420209293 | ARX | c.479A= (p.Lys160=)
| |
X | g.25013517T>A | CA412613100 | ARX | c.478A>T (p.Lys160Ter)
| |
X | g.25013517T>C | CA412613101 | ARX | c.478A>G (p.Lys160Glu)
| gnomAD v4 |
X | g.25013517T>G | CA412613102 | ARX | c.478A>C (p.Lys160Gln)
| gnomAD v4 |
X | g.25013518del | CA2820100846 | ARX | c.477del (p.Lys160ArgfsTer8)
| |
X | g.25013518G>A | CA515947621 | ARX | c.477C>T (p.Leu159=)
| gnomAD v4 |
X | g.25013518G>C | CA515947622 | ARX | c.477C>G (p.Leu159=)
| |
X | g.25013518G>T | CA515947623 | ARX | c.477C>A (p.Leu159=)
| gnomAD v4 |
X | g.25013519_25013520del | CA2820100847 | ARX | c.476_477del (p.Leu159GlnfsTer?)
| |
X | g.25013519A>C | CA412613103 | ARX | c.476T>G (p.Leu159Arg)
| |
X | g.25013519A>G | CA412613104 | ARX | c.476T>C (p.Leu159Pro)
| gnomAD v4 |
X | g.25013519A>T | CA412613105 | ARX | c.476T>A (p.Leu159His)
| |
X | g.25013520G>A | CA412613108 | ARX | c.475C>T (p.Leu159Phe)
| dbSNP gnomAD v4 |
X | g.25013520G>C | CA412613107 | ARX | c.475C>G (p.Leu159Val)
| gnomAD v4 |
X | g.25013520G= | CA2420209295 | ARX | c.475C= (p.Leu159=)
| |
X | g.25013520G>T | CA412613106 | ARX | c.475C>A (p.Leu159Ile)
| gnomAD v4 |
X | g.25013520_25013521delinsAT | CA891843650 | ARX | c.474_475delinsAT (p.Leu159Phe)
| ClinVar dbSNP |
X | g.25013520_25013521delinsGC | CA2420209294 | ARX | c.474_475delinsGC (p.Thr158=)
| |
X | g.25013523_25013563del | CA2580100523 | ARX | c.435_475del (p.Ala146GlnfsTer?)
| ClinVar |
X | g.25013523_25013572del | CA2739290436 | ARX | c.426_475del (p.Gly143GlnfsTer?)
| |
X | g.25013521C>A | CA515947627 | ARX | c.474G>T (p.Thr158=)
| gnomAD v4 |
X | g.25013521C>G | CA515947628 | ARX | c.474G>C (p.Thr158=)
| gnomAD v4 |
X | g.25013521C>T | CA515947629 | ARX | c.474G>A (p.Thr158=)
| gnomAD v4 |
X | g.25013522del | CA2693353709 | ARX | c.473del (p.Thr158SerfsTer10)
| gnomAD v4 |
X | g.25013522G>A | CA412613109 | ARX | c.473C>T (p.Thr158Met)
| gnomAD v4 |
X | g.25013522G>C | CA412613110 | ARX | c.473C>G (p.Thr158Arg)
| gnomAD v4 |
X | g.25013522G>T | CA412613111 | ARX | c.473C>A (p.Thr158Lys)
| gnomAD v4 |
X | g.25013523T>A | CA412613112 | ARX | c.472A>T (p.Thr158Ser)
| gnomAD v4 |
X | g.25013523T>C | CA412613113 | ARX | c.472A>G (p.Thr158Ala)
| gnomAD v4 |
X | g.25013523T>G | CA412613114 | ARX | c.472A>C (p.Thr158Pro)
| dbSNP |
X | g.25013523T= | CA2420209296 | ARX | c.472A= (p.Thr158=)
| |
X | g.25013524G>A | CA515947631 | ARX | c.471C>T (p.Asp157=)
| gnomAD v4 |
X | g.25013524G>C | CA412613116 | ARX | c.471C>G (p.Asp157Glu)
| gnomAD v4 |
X | g.25013524G>T | CA412613115 | ARX | c.471C>A (p.Asp157Glu)
| gnomAD v4 |
X | g.25013525T>A | CA412613117 | ARX | c.470A>T (p.Asp157Val)
| gnomAD v4 |
X | g.25013525T>C | CA412613118 | ARX | c.470A>G (p.Asp157Gly)
| gnomAD v4 |
X | g.25013525T>G | CA412613119 | ARX | c.470A>C (p.Asp157Ala)
| gnomAD v4 |
X | g.25013526C>A | CA412613120 | ARX | c.469G>T (p.Asp157Tyr)
| gnomAD v4 |
X | g.25013526C>G | CA412613121 | ARX | c.469G>C (p.Asp157His)
| |
X | g.25013526C>T | CA412613122 | ARX | c.469G>A (p.Asp157Asn)
| gnomAD v4 |
X | g.25013528del | CA2693353710 | ARX | c.469del (p.Asp157ThrfsTer11)
| gnomAD v4 |
X | g.25013527_25013528del | CA2693353711 | ARX | c.468_469del (p.Trp156Ter)
| gnomAD v4 |
X | g.25013528_25013557del | CA2693353712 | ARX | c.440_469del (p.Ala147_Trp156del)
| gnomAD v4 |
X | g.25013527C>A | CA412613123 | ARX | c.468G>T (p.Trp156Cys)
| gnomAD v4 |
X | g.25013527C>G | CA412613125 | ARX | c.468G>C (p.Trp156Cys)
| gnomAD v4 |
X | g.25013527C>T | CA412613124 | ARX | c.468G>A (p.Trp156Ter)
| gnomAD v4 |
X | g.25013527_25013539delinsCCAGGCCGCGGCG | CA2420209297 | ARX | c.456_468delinsCGCCGCGGCCTGG (p.Ala152=)
| |
X | g.25013528C>A | CA412613126 | ARX | c.467G>T (p.Trp156Leu)
| gnomAD v4 |
X | g.25013528C= | CA2420209298 | ARX | c.467G= (p.Trp156=)
| |
X | g.25013528C>G | CA412613127 | ARX | c.467G>C (p.Trp156Ser)
| gnomAD v4 |
X | g.25013528C>T | CA412613128 | ARX | c.467G>A (p.Trp156Ter)
| ClinVar dbSNP gnomAD v4 |
X | g.25013528_25013539del | CA10373896 | ARX | c.456_467del (p.Ala153_Trp156del)
| dbSNP ExAC |
X | g.25013528_25013543delinsCAGGCCGCGGCGGCCG | CA2420209299 | ARX | c.452_467delinsCGGCCGCCGCGGCCTG (p.Ala151=)
| |
X | g.25013529del | CA2693353713 | ARX | c.466del (p.Trp156GlyfsTer12)
| gnomAD v4 |
X | g.25013529A= | CA2420209301 | ARX | c.466T= (p.Trp156=)
| |
X | g.25013529A>C | CA412613129 | ARX | c.466T>G (p.Trp156Gly)
| dbSNP gnomAD v4 |
X | g.25013529A>G | CA412613130 | ARX | c.466T>C (p.Trp156Arg)
| gnomAD v4 |
X | g.25013529A>T | CA412613131 | ARX | c.466T>A (p.Trp156Arg)
| |
X | g.25013529_25013538delinsAGGCCGCGGC | CA2420209302 | ARX | c.457_466delinsGCCGCGGCCT (p.Ala153=)
| |
X | g.25013529_25013543del | CA874147637 | ARX | c.452_466del (p.Ala151_Trp156delinsGly)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013529_25013544delinsAGGCCGCGGCGGCCGC | CA2420209303 | ARX | c.451_466delinsGCGGCCGCCGCGGCCT (p.Ala151=)
| |
X | g.25013529_25013562delinsAGGCCGCGGCGGCCGCGGCCGCGGCTGCCGCGGC | CA2420209300 | ARX | c.433_466delinsGCCGCGGCAGCCGCGGCCGCGGCCGCCGCGGCCT (p.Ala145=)
| |