Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.42538680_42538685del | CA2573153967 | NAGLU | c.689_694del (p.Leu230_Asp231del) c.291_296del c.284_289del (p.Leu95_Asp96del) c.-54_-49del (n.-54_-49del) c.746_751del (p.Leu249_Asp250del) | ClinVar dbSNP |
17 | g.42538684C>A | CA399598884 | NAGLU | c.693C>A (p.Asp231Glu) c.295C>A c.288C>A (p.Asp96Glu) c.-50C>A (n.-50C>A) c.750C>A (p.Asp250Glu) | |
17 | g.42538684C>G | CA399598886 | NAGLU | c.693C>G (p.Asp231Glu) c.295C>G c.288C>G (p.Asp96Glu) c.-50C>G (n.-50C>G) c.750C>G (p.Asp250Glu) | |
17 | g.42538684C>T | CA500216488 | NAGLU | c.693C>T (p.Asp231=) c.295C>T c.288C>T (p.Asp96=) c.-50C>T (n.-50C>T) c.750C>T (p.Asp250=) | |
17 | g.42538685C>A | CA399598888 | NAGLU | c.694C>A (p.Gln232Lys) c.296C>A c.289C>A (p.Gln97Lys) c.-49C>A (n.-49C>A) c.751C>A (p.Gln251Lys) | |
17 | g.42538685C= | CA2260527969 | NAGLU | c.694C= (p.Gln232=) c.296C= c.289C= (p.Gln97=) c.-49C= (n.-49C=) c.751C= (p.Gln251=) | |
17 | g.42538685C>G | CA399598890 | NAGLU | c.694C>G (p.Gln232Glu) c.296C>G c.289C>G (p.Gln97Glu) c.-49C>G (n.-49C>G) c.751C>G (p.Gln251Glu) | |
17 | g.42538685C>T | CA10605951 | NAGLU | c.694C>T (p.Gln232Ter) c.296C>T c.289C>T (p.Gln97Ter) c.-49C>T (n.-49C>T) c.751C>T (p.Gln251Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42538686A>C | CA399598892 | NAGLU | c.695A>C (p.Gln232Pro) c.297A>C c.290A>C (p.Gln97Pro) c.-48A>C (n.-48A>C) c.752A>C (p.Gln251Pro) | |
17 | g.42538686A>G | CA399598893 | NAGLU | c.695A>G (p.Gln232Arg) c.297A>G c.290A>G (p.Gln97Arg) c.-48A>G (n.-48A>G) c.752A>G (p.Gln251Arg) | |
17 | g.42538686A>T | CA399598894 | NAGLU | c.695A>T (p.Gln232Leu) c.297A>T c.290A>T (p.Gln97Leu) c.-48A>T (n.-48A>T) c.752A>T (p.Gln251Leu) | |
17 | g.42538687G>A | CA500216489 | NAGLU | c.696G>A (p.Gln232=) c.298G>A c.291G>A (p.Gln97=) c.-47G>A (n.-47G>A) c.753G>A (p.Gln251=) | gnomAD v4 |
17 | g.42538687G>C | CA399598896 | NAGLU | c.696G>C (p.Gln232His) c.298G>C c.291G>C (p.Gln97His) c.-47G>C (n.-47G>C) c.753G>C (p.Gln251His) | |
17 | g.42538687G>T | CA399598899 | NAGLU | c.696G>T (p.Gln232His) c.298G>T c.291G>T (p.Gln97His) c.-47G>T (n.-47G>T) c.753G>T (p.Gln251His) | |
17 | g.42538688A>C | CA399598905 | NAGLU | c.697A>C (p.Met233Leu) c.299A>C c.292A>C (p.Met98Leu) c.-46A>C (n.-46A>C) c.754A>C (p.Met252Leu) | |
17 | g.42538688A>G | CA399598902 | NAGLU | c.697A>G (p.Met233Val) c.299A>G c.292A>G (p.Met98Val) c.-46A>G (n.-46A>G) c.754A>G (p.Met252Val) | |
17 | g.42538688A>T | CA399598903 | NAGLU | c.697A>T (p.Met233Leu) c.299A>T c.292A>T (p.Met98Leu) c.-46A>T (n.-46A>T) c.754A>T (p.Met252Leu) | |
17 | g.42538689T>A | CA399598907 | NAGLU | c.698T>A (p.Met233Lys) c.300T>A c.293T>A (p.Met98Lys) c.-45T>A (n.-45T>A) c.755T>A (p.Met252Lys) | |
17 | g.42538689T>C | CA399598908 | NAGLU | c.698T>C (p.Met233Thr) c.300T>C c.293T>C (p.Met98Thr) c.-45T>C (n.-45T>C) c.755T>C (p.Met252Thr) | |
17 | g.42538689T>G | CA399598910 | NAGLU | c.698T>G (p.Met233Arg) c.300T>G c.293T>G (p.Met98Arg) c.-45T>G (n.-45T>G) c.755T>G (p.Met252Arg) | |
17 | g.42538690G>A | CA399598912 | NAGLU | c.699G>A (p.Met233Ile) c.301G>A c.294G>A (p.Met98Ile) c.-44G>A (n.-44G>A) c.756G>A (p.Met252Ile) | |
17 | g.42538690G>C | CA399598914 | NAGLU | c.699G>C (p.Met233Ile) c.301G>C c.294G>C (p.Met98Ile) c.-44G>C (n.-44G>C) c.756G>C (p.Met252Ile) | |
17 | g.42538690G>T | CA399598916 | NAGLU | c.699G>T (p.Met233Ile) c.301G>T c.294G>T (p.Met98Ile) c.-44G>T (n.-44G>T) c.756G>T (p.Met252Ile) | |
17 | g.42538691C>A | CA399598918 | NAGLU | c.700C>A (p.Arg234Ser) c.302C>A c.295C>A (p.Arg99Ser) c.-43C>A (n.-43C>A) c.757C>A (p.Arg253Ser) | dbSNP |
17 | g.42538691C= | CA2260527970 | NAGLU | c.700C= (p.Arg234=) c.302C= c.295C= (p.Arg99=) c.-43C= (n.-43C=) c.757C= (p.Arg253=) | |
17 | g.42538691C>G | CA399598919 | NAGLU | c.700C>G (p.Arg234Gly) c.302C>G c.295C>G (p.Arg99Gly) c.-43C>G (n.-43C>G) c.757C>G (p.Arg253Gly) | ClinVar dbSNP |
17 | g.42538691C>T | CA115055 | NAGLU | c.700C>T (p.Arg234Cys) c.302C>T c.295C>T (p.Arg99Cys) c.-43C>T (n.-43C>T) c.757C>T (p.Arg253Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538692G>A | CA399598921 | NAGLU | c.701G>A (p.Arg234His) c.303G>A c.296G>A (p.Arg99His) c.-42G>A (n.-42G>A) c.758G>A (p.Arg253His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538692G>C | CA10603774 | NAGLU | c.701G>C (p.Arg234Pro) c.303G>C c.296G>C (p.Arg99Pro) c.-42G>C (n.-42G>C) c.758G>C (p.Arg253Pro) | ClinVar dbSNP gnomAD v4 |
17 | g.42538692G= | CA2260527971 | NAGLU | c.701G= (p.Arg234=) c.303G= c.296G= (p.Arg99=) c.-42G= (n.-42G=) c.758G= (p.Arg253=) | |
17 | g.42538692G>T | CA399598923 | NAGLU | c.701G>T (p.Arg234Leu) c.303G>T c.296G>T (p.Arg99Leu) c.-42G>T (n.-42G>T) c.758G>T (p.Arg253Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42538693C>A | CA500216490 | NAGLU | c.702C>A (p.Arg234=) c.304C>A c.297C>A (p.Arg99=) c.-41C>A (n.-41C>A) c.759C>A (p.Arg253=) | gnomAD v4 |
17 | g.42538693C= | CA2260527972 | NAGLU | c.702C= (p.Arg234=) c.304C= c.297C= (p.Arg99=) c.-41C= (n.-41C=) c.759C= (p.Arg253=) | |
17 | g.42538693C>G | CA500216491 | NAGLU | c.702C>G (p.Arg234=) c.304C>G c.297C>G (p.Arg99=) c.-41C>G (n.-41C>G) c.759C>G (p.Arg253=) | |
17 | g.42538693C>T | CA500216492 | NAGLU | c.702C>T (p.Arg234=) c.304C>T c.297C>T (p.Arg99=) c.-41C>T (n.-41C>T) c.759C>T (p.Arg253=) | ClinVar dbSNP |
17 | g.42538694del | CA2695226063 | NAGLU | c.703del (p.Ser235ProfsTer4) c.305del c.298del (p.Ser100ProfsTer4) c.-40del (n.-40del) c.760del (p.Ser254ProfsTer4) | |
17 | g.42538694T>A | CA399598929 | NAGLU | c.703T>A (p.Ser235Thr) c.305T>A c.298T>A (p.Ser100Thr) c.-40T>A (n.-40T>A) c.760T>A (p.Ser254Thr) | |
17 | g.42538694T>C | CA399598927 | NAGLU | c.703T>C (p.Ser235Pro) c.305T>C c.298T>C (p.Ser100Pro) c.-40T>C (n.-40T>C) c.760T>C (p.Ser254Pro) | ClinVar dbSNP |
17 | g.42538694T>G | CA399598925 | NAGLU | c.703T>G (p.Ser235Ala) c.305T>G c.298T>G (p.Ser100Ala) c.-40T>G (n.-40T>G) c.760T>G (p.Ser254Ala) | |
17 | g.42538695C>A | CA399598930 | NAGLU | c.704C>A (p.Ser235Tyr) c.306C>A c.299C>A (p.Ser100Tyr) c.-39C>A (n.-39C>A) c.761C>A (p.Ser254Tyr) | |
17 | g.42538695C>G | CA399598931 | NAGLU | c.704C>G (p.Ser235Cys) c.306C>G c.299C>G (p.Ser100Cys) c.-39C>G (n.-39C>G) c.761C>G (p.Ser254Cys) | |
17 | g.42538695C>T | CA399598932 | NAGLU | c.704C>T (p.Ser235Phe) c.306C>T c.299C>T (p.Ser100Phe) c.-39C>T (n.-39C>T) c.761C>T (p.Ser254Phe) | gnomAD v4 |
17 | g.42538696C>A | CA500216495 | NAGLU | c.705C>A (p.Ser235=) c.307C>A c.300C>A (p.Ser100=) c.-38C>A (n.-38C>A) c.762C>A (p.Ser254=) | |
17 | g.42538696C>G | CA500216494 | NAGLU | c.705C>G (p.Ser235=) c.307C>G c.300C>G (p.Ser100=) c.-38C>G (n.-38C>G) c.762C>G (p.Ser254=) | |
17 | g.42538696C>T | CA500216493 | NAGLU | c.705C>T (p.Ser235=) c.307C>T c.300C>T (p.Ser100=) c.-38C>T (n.-38C>T) c.762C>T (p.Ser254=) | |
17 | g.42538697T>A | CA399598934 | NAGLU | c.706T>A (p.Phe236Ile) c.308T>A c.301T>A (p.Phe101Ile) c.-37T>A (n.-37T>A) c.763T>A (p.Phe255Ile) | |
17 | g.42538697T>C | CA399598936 | NAGLU | c.706T>C (p.Phe236Leu) c.308T>C c.301T>C (p.Phe101Leu) c.-37T>C (n.-37T>C) c.763T>C (p.Phe255Leu) | |
17 | g.42538697T>G | CA399598938 | NAGLU | c.706T>G (p.Phe236Val) c.308T>G c.301T>G (p.Phe101Val) c.-37T>G (n.-37T>G) c.763T>G (p.Phe255Val) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42538698T>A | CA399598943 | NAGLU | c.707T>A (p.Phe236Tyr) c.309T>A c.302T>A (p.Phe101Tyr) c.-36T>A (n.-36T>A) c.764T>A (p.Phe255Tyr) | |
17 | g.42538698T>C | CA399598941 | NAGLU | c.707T>C (p.Phe236Ser) c.309T>C c.302T>C (p.Phe101Ser) c.-36T>C (n.-36T>C) c.764T>C (p.Phe255Ser) | ClinVar |
17 | g.42538698T>G | CA399598940 | NAGLU | c.707T>G (p.Phe236Cys) c.309T>G c.302T>G (p.Phe101Cys) c.-36T>G (n.-36T>G) c.764T>G (p.Phe255Cys) | |
17 | g.42538699C>A | CA399598946 | NAGLU | c.708C>A (p.Phe236Leu) c.310C>A c.303C>A (p.Phe101Leu) c.-35C>A (n.-35C>A) c.765C>A (p.Phe255Leu) | |
17 | g.42538699C= | CA2260527973 | NAGLU | c.708C= (p.Phe236=) c.310C= c.303C= (p.Phe101=) c.-35C= (n.-35C=) c.765C= (p.Phe255=) | |
17 | g.42538699C>G | CA399598947 | NAGLU | c.708C>G (p.Phe236Leu) c.310C>G c.303C>G (p.Phe101Leu) c.-35C>G (n.-35C>G) c.765C>G (p.Phe255Leu) | |
17 | g.42538699C>T | CA8576834 | NAGLU | c.708C>T (p.Phe236=) c.310C>T c.303C>T (p.Phe101=) c.-35C>T (n.-35C>T) c.765C>T (p.Phe255=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538700G>A | CA399598948 | NAGLU | c.709G>A (p.Gly237Ser) c.311G>A c.304G>A (p.Gly102Ser) c.-34G>A (n.-34G>A) c.766G>A (p.Gly256Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538700G>C | CA399598949 | NAGLU | c.709G>C (p.Gly237Arg) c.311G>C c.304G>C (p.Gly102Arg) c.-34G>C (n.-34G>C) c.766G>C (p.Gly256Arg) | gnomAD v4 |
17 | g.42538700G= | CA2260527974 | NAGLU | c.709G= (p.Gly237=) c.311G= c.304G= (p.Gly102=) c.-34G= (n.-34G=) c.766G= (p.Gly256=) | |
17 | g.42538700G>T | CA399598950 | NAGLU | c.709G>T (p.Gly237Cys) c.311G>T c.304G>T (p.Gly102Cys) c.-34G>T (n.-34G>T) c.766G>T (p.Gly256Cys) | |
17 | g.42538701_42538705dup | CA2580093985 | NAGLU | c.710_714dup (p.Thr239AlafsTer2) c.312_316dup c.305_309dup (p.Thr104AlafsTer2) c.-33_-29dup (n.-33_-29dup) c.767_771dup (p.Thr258AlafsTer2) | ClinVar gnomAD v4 |
17 | g.42538701G>A | CA8576835 | NAGLU | c.710G>A (p.Gly237Asp) c.312G>A c.305G>A (p.Gly102Asp) c.-33G>A (n.-33G>A) c.767G>A (p.Gly256Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42538701G>C | CA399598953 | NAGLU | c.710G>C (p.Gly237Ala) c.312G>C c.305G>C (p.Gly102Ala) c.-33G>C (n.-33G>C) c.767G>C (p.Gly256Ala) | |
17 | g.42538701G= | CA2260527975 | NAGLU | c.710G= (p.Gly237=) c.312G= c.305G= (p.Gly102=) c.-33G= (n.-33G=) c.767G= (p.Gly256=) | |
17 | g.42538701G>T | CA399598952 | NAGLU | c.710G>T (p.Gly237Val) c.312G>T c.305G>T (p.Gly102Val) c.-33G>T (n.-33G>T) c.767G>T (p.Gly256Val) | |
17 | g.42538702C>A | CA500216496 | NAGLU | c.711C>A (p.Gly237=) c.313C>A c.306C>A (p.Gly102=) c.-32C>A (n.-32C>A) c.768C>A (p.Gly256=) | gnomAD v4 |
17 | g.42538702C>G | CA500216497 | NAGLU | c.711C>G (p.Gly237=) c.313C>G c.306C>G (p.Gly102=) c.-32C>G (n.-32C>G) c.768C>G (p.Gly256=) | |
17 | g.42538702C>T | CA500216498 | NAGLU | c.711C>T (p.Gly237=) c.313C>T c.306C>T (p.Gly102=) c.-32C>T (n.-32C>T) c.768C>T (p.Gly256=) | |
17 | g.42538703A= | CA2260527976 | NAGLU | c.712A= (p.Met238=) c.314A= c.307A= (p.Met103=) c.-31A= (n.-31A=) c.769A= (p.Met257=) | |
17 | g.42538703A>C | CA399598955 | NAGLU | c.712A>C (p.Met238Leu) c.314A>C c.307A>C (p.Met103Leu) c.-31A>C (n.-31A>C) c.769A>C (p.Met257Leu) | |
17 | g.42538703A>G | CA399598957 | NAGLU | c.712A>G (p.Met238Val) c.314A>G c.307A>G (p.Met103Val) c.-31A>G (n.-31A>G) c.769A>G (p.Met257Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538703A>T | CA399598958 | NAGLU | c.712A>T (p.Met238Leu) c.314A>T c.307A>T (p.Met103Leu) c.-31A>T (n.-31A>T) c.769A>T (p.Met257Leu) | dbSNP gnomAD v4 |
17 | g.42538704del | CA2573153968 | NAGLU | c.713del (p.Met238ArgfsTer?) c.315del c.308del (p.Met103ArgfsTer?) c.-30del (n.-30del) c.770del (p.Met257ArgfsTer?) | ClinVar dbSNP |
17 | g.42538704T>A | CA399598959 | NAGLU | c.713T>A (p.Met238Lys) c.315T>A c.308T>A (p.Met103Lys) c.-30T>A (n.-30T>A) c.770T>A (p.Met257Lys) | |
17 | g.42538704T>C | CA399598960 | NAGLU | c.713T>C (p.Met238Thr) c.315T>C c.308T>C (p.Met103Thr) c.-30T>C (n.-30T>C) c.770T>C (p.Met257Thr) | gnomAD v4 |
17 | g.42538704T>G | CA399598962 | NAGLU | c.713T>G (p.Met238Arg) c.315T>G c.308T>G (p.Met103Arg) c.-30T>G (n.-30T>G) c.770T>G (p.Met257Arg) | |
17 | g.42538705G>A | CA399598964 | NAGLU | c.714G>A (p.Met238Ile) c.316G>A c.309G>A (p.Met103Ile) c.-29G>A (n.-29G>A) c.771G>A (p.Met257Ile) | |
17 | g.42538705G>C | CA399598967 | NAGLU | c.714G>C (p.Met238Ile) c.316G>C c.309G>C (p.Met103Ile) c.-29G>C (n.-29G>C) c.771G>C (p.Met257Ile) | dbSNP gnomAD v4 |
17 | g.42538705G= | CA2260527977 | NAGLU | c.714G= (p.Met238=) c.316G= c.309G= (p.Met103=) c.-29G= (n.-29G=) c.771G= (p.Met257=) | |
17 | g.42538705G>T | CA399598969 | NAGLU | c.714G>T (p.Met238Ile) c.316G>T c.309G>T (p.Met103Ile) c.-29G>T (n.-29G>T) c.771G>T (p.Met257Ile) | |
17 | g.42538706A= | CA2260527978 | NAGLU | c.715A= (p.Thr239=) c.317A= c.310A= (p.Thr104=) c.-28A= (n.-28A=) c.772A= (p.Thr258=) | |
17 | g.42538706A>C | CA399598971 | NAGLU | c.715A>C (p.Thr239Pro) c.317A>C c.310A>C (p.Thr104Pro) c.-28A>C (n.-28A>C) c.772A>C (p.Thr258Pro) | dbSNP |
17 | g.42538706A>G | CA399598973 | NAGLU | c.715A>G (p.Thr239Ala) c.317A>G c.310A>G (p.Thr104Ala) c.-28A>G (n.-28A>G) c.772A>G (p.Thr258Ala) | |
17 | g.42538706A>T | CA399598975 | NAGLU | c.715A>T (p.Thr239Ser) c.317A>T c.310A>T (p.Thr104Ser) c.-28A>T (n.-28A>T) c.772A>T (p.Thr258Ser) | |
17 | g.42538707C>A | CA399598977 | NAGLU | c.716C>A (p.Thr239Asn) c.318C>A c.311C>A (p.Thr104Asn) c.-27C>A (n.-27C>A) c.773C>A (p.Thr258Asn) | gnomAD v4 |
17 | g.42538707C>G | CA399598980 | NAGLU | c.716C>G (p.Thr239Ser) c.318C>G c.311C>G (p.Thr104Ser) c.-27C>G (n.-27C>G) c.773C>G (p.Thr258Ser) | |
17 | g.42538707C>T | CA399598978 | NAGLU | c.716C>T (p.Thr239Ile) c.318C>T c.311C>T (p.Thr104Ile) c.-27C>T (n.-27C>T) c.773C>T (p.Thr258Ile) | |
17 | g.42538708C>A | CA500216500 | NAGLU | c.717C>A (p.Thr239=) c.319C>A c.312C>A (p.Thr104=) c.-26C>A (n.-26C>A) c.774C>A (p.Thr258=) | |
17 | g.42538708C>G | CA500216501 | NAGLU | c.717C>G (p.Thr239=) c.319C>G c.312C>G (p.Thr104=) c.-26C>G (n.-26C>G) c.774C>G (p.Thr258=) | |
17 | g.42538708C>T | CA500216499 | NAGLU | c.717C>T (p.Thr239=) c.319C>T c.312C>T (p.Thr104=) c.-26C>T (n.-26C>T) c.774C>T (p.Thr258=) | ClinVar |
17 | g.42538709C>A | CA399598982 | NAGLU | c.718C>A (p.Pro240Thr) c.320C>A c.313C>A (p.Pro105Thr) c.-25C>A (n.-25C>A) c.775C>A (p.Pro259Thr) | |
17 | g.42538709C>G | CA399598984 | NAGLU | c.718C>G (p.Pro240Ala) c.320C>G c.313C>G (p.Pro105Ala) c.-25C>G (n.-25C>G) c.775C>G (p.Pro259Ala) | gnomAD v4 |
17 | g.42538709C>T | CA399598985 | NAGLU | c.718C>T (p.Pro240Ser) c.320C>T c.313C>T (p.Pro105Ser) c.-25C>T (n.-25C>T) c.775C>T (p.Pro259Ser) | ClinVar COSMIC |
17 | g.42538710C>A | CA399598988 | NAGLU | c.719C>A (p.Pro240Gln) c.321C>A c.314C>A (p.Pro105Gln) c.-24C>A (n.-24C>A) c.776C>A (p.Pro259Gln) | |
17 | g.42538710C= | CA2260527979 | NAGLU | c.719C= (p.Pro240=) c.321C= c.314C= (p.Pro105=) c.-24C= (n.-24C=) c.776C= (p.Pro259=) | |
17 | g.42538710C>G | CA399598990 | NAGLU | c.719C>G (p.Pro240Arg) c.321C>G c.314C>G (p.Pro105Arg) c.-24C>G (n.-24C>G) c.776C>G (p.Pro259Arg) | |
17 | g.42538710C>T | CA399598992 | NAGLU | c.719C>T (p.Pro240Leu) c.321C>T c.314C>T (p.Pro105Leu) c.-24C>T (n.-24C>T) c.776C>T (p.Pro259Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538711A= | CA2260527980 | NAGLU | c.720A= (p.Pro240=) c.322A= c.315A= (p.Pro105=) c.-23A= (n.-23A=) c.777A= (p.Pro259=) | |
17 | g.42538711A>C | CA500216503 | NAGLU | c.720A>C (p.Pro240=) c.322A>C c.315A>C (p.Pro105=) c.-23A>C (n.-23A>C) c.777A>C (p.Pro259=) | ClinVar dbSNP |
17 | g.42538711A>G | CA500216502 | NAGLU | c.720A>G (p.Pro240=) c.322A>G c.315A>G (p.Pro105=) c.-23A>G (n.-23A>G) c.777A>G (p.Pro259=) | |
17 | g.42538711A>T | CA290773440 | NAGLU | c.720A>T (p.Pro240=) c.322A>T c.315A>T (p.Pro105=) c.-23A>T (n.-23A>T) c.777A>T (p.Pro259=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538712G>A | CA399598994 | NAGLU | c.721G>A (p.Val241Met) c.323G>A c.316G>A (p.Val106Met) c.-22G>A (n.-22G>A) c.778G>A (p.Val260Met) | |
17 | g.42538712G>C | CA399598996 | NAGLU | c.721G>C (p.Val241Leu) c.323G>C c.316G>C (p.Val106Leu) c.-22G>C (n.-22G>C) c.778G>C (p.Val260Leu) | |
17 | g.42538712G= | CA2260527981 | NAGLU | c.721G= (p.Val241=) c.323G= c.316G= (p.Val106=) c.-22G= (n.-22G=) c.778G= (p.Val260=) | |
17 | g.42538712G>T | CA399598998 | NAGLU | c.721G>T (p.Val241Leu) c.323G>T c.316G>T (p.Val106Leu) c.-22G>T (n.-22G>T) c.778G>T (p.Val260Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42538713T>A | CA399599000 | NAGLU | c.722T>A (p.Val241Glu) c.324T>A c.317T>A (p.Val106Glu) c.-21T>A (n.-21T>A) c.779T>A (p.Val260Glu) | |
17 | g.42538713T>C | CA399599002 | NAGLU | c.722T>C (p.Val241Ala) c.324T>C c.317T>C (p.Val106Ala) c.-21T>C (n.-21T>C) c.779T>C (p.Val260Ala) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42538713T>G | CA399599004 | NAGLU | c.722T>G (p.Val241Gly) c.324T>G c.317T>G (p.Val106Gly) c.-21T>G (n.-21T>G) c.779T>G (p.Val260Gly) | |
17 | g.42538713T= | CA2260527982 | NAGLU | c.722T= (p.Val241=) c.324T= c.317T= (p.Val106=) c.-21T= (n.-21T=) c.779T= (p.Val260=) | |
17 | g.42538714G>A | CA8576836 | NAGLU | c.723G>A (p.Val241=) c.325G>A c.318G>A (p.Val106=) c.-20G>A (n.-20G>A) c.780G>A (p.Val260=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538714G>C | CA500216505 | NAGLU | c.723G>C (p.Val241=) c.325G>C c.318G>C (p.Val106=) c.-20G>C (n.-20G>C) c.780G>C (p.Val260=) | |
17 | g.42538714G= | CA2260527983 | NAGLU | c.723G= (p.Val241=) c.325G= c.318G= (p.Val106=) c.-20G= (n.-20G=) c.780G= (p.Val260=) | |
17 | g.42538714G>T | CA500216504 | NAGLU | c.723G>T (p.Val241=) c.325G>T c.318G>T (p.Val106=) c.-20G>T (n.-20G>T) c.780G>T (p.Val260=) | |
17 | g.42538715C>A | CA399599007 | NAGLU | c.724C>A (p.Leu242Met) c.326C>A c.319C>A (p.Leu107Met) c.-19C>A (n.-19C>A) c.781C>A (p.Leu261Met) | |
17 | g.42538715C= | CA2260527984 | NAGLU | c.724C= (p.Leu242=) c.326C= c.319C= (p.Leu107=) c.-19C= (n.-19C=) c.781C= (p.Leu261=) | |
17 | g.42538715C>G | CA399599006 | NAGLU | c.724C>G (p.Leu242Val) c.326C>G c.319C>G (p.Leu107Val) c.-19C>G (n.-19C>G) c.781C>G (p.Leu261Val) | |
17 | g.42538715C>T | CA500216506 | NAGLU | c.724C>T (p.Leu242=) c.326C>T c.319C>T (p.Leu107=) c.-19C>T (n.-19C>T) c.781C>T (p.Leu261=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42538716T>A | CA399599008 | NAGLU | c.725T>A (p.Leu242Gln) c.327T>A c.320T>A (p.Leu107Gln) c.-18T>A (n.-18T>A) c.782T>A (p.Leu261Gln) | |
17 | g.42538716T>C | CA399599010 | NAGLU | c.725T>C (p.Leu242Pro) c.327T>C c.320T>C (p.Leu107Pro) c.-18T>C (n.-18T>C) c.782T>C (p.Leu261Pro) | ClinVar |
17 | g.42538716T>G | CA399599012 | NAGLU | c.725T>G (p.Leu242Arg) c.327T>G c.320T>G (p.Leu107Arg) c.-18T>G (n.-18T>G) c.782T>G (p.Leu261Arg) | |
17 | g.42538717G>A | CA500216508 | NAGLU | c.726G>A (p.Leu242=) c.328G>A c.321G>A (p.Leu107=) c.-17G>A (n.-17G>A) c.783G>A (p.Leu261=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42538717G>C | CA500216507 | NAGLU | c.726G>C (p.Leu242=) c.328G>C c.321G>C (p.Leu107=) c.-17G>C (n.-17G>C) c.783G>C (p.Leu261=) | |
17 | g.42538717G= | CA2260527985 | NAGLU | c.726G= (p.Leu242=) c.328G= c.321G= (p.Leu107=) c.-17G= (n.-17G=) c.783G= (p.Leu261=) | |
17 | g.42538717G>T | CA500216509 | NAGLU | c.726G>T (p.Leu242=) c.328G>T c.321G>T (p.Leu107=) c.-17G>T (n.-17G>T) c.783G>T (p.Leu261=) | dbSNP gnomAD v2 |
17 | g.42538718C>A | CA399599014 | NAGLU | c.727C>A (p.Pro243Thr) c.329C>A c.322C>A (p.Pro108Thr) c.-16C>A (n.-16C>A) c.784C>A (p.Pro262Thr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42538718C= | CA2260527986 | NAGLU | c.727C= (p.Pro243=) c.329C= c.322C= (p.Pro108=) c.-16C= (n.-16C=) c.784C= (p.Pro262=) | |
17 | g.42538718C>G | CA399599015 | NAGLU | c.727C>G (p.Pro243Ala) c.329C>G c.322C>G (p.Pro108Ala) c.-16C>G (n.-16C>G) c.784C>G (p.Pro262Ala) | COSMIC |
17 | g.42538718C>T | CA8576837 | NAGLU | c.727C>T (p.Pro243Ser) c.329C>T c.322C>T (p.Pro108Ser) c.-16C>T (n.-16C>T) c.784C>T (p.Pro262Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538719C>A | CA399599018 | NAGLU | c.728C>A (p.Pro243His) c.330C>A c.323C>A (p.Pro108His) c.-15C>A (n.-15C>A) c.785C>A (p.Pro262His) | |
17 | g.42538719C>G | CA399599021 | NAGLU | c.728C>G (p.Pro243Arg) c.330C>G c.323C>G (p.Pro108Arg) c.-15C>G (n.-15C>G) c.785C>G (p.Pro262Arg) | |
17 | g.42538719C>T | CA399599022 | NAGLU | c.728C>T (p.Pro243Leu) c.330C>T c.323C>T (p.Pro108Leu) c.-15C>T (n.-15C>T) c.785C>T (p.Pro262Leu) | gnomAD v4 |
17 | g.42538720T>A | CA500216511 | NAGLU | c.729T>A (p.Pro243=) c.331T>A c.324T>A (p.Pro108=) c.-14T>A (n.-14T>A) c.786T>A (p.Pro262=) | |
17 | g.42538720T>C | CA500216510 | NAGLU | c.729T>C (p.Pro243=) c.331T>C c.324T>C (p.Pro108=) c.-14T>C (n.-14T>C) c.786T>C (p.Pro262=) | |
17 | g.42538720T>G | CA290773447 | NAGLU | c.729T>G (p.Pro243=) c.331T>G c.324T>G (p.Pro108=) c.-14T>G (n.-14T>G) c.786T>G (p.Pro262=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42538720T= | CA2260527987 | NAGLU | c.729T= (p.Pro243=) c.331T= c.324T= (p.Pro108=) c.-14T= (n.-14T=) c.786T= (p.Pro262=) | |
17 | g.42538721G>A | CA8576838 | NAGLU | c.730G>A (p.Ala244Thr) c.332G>A c.325G>A (p.Ala109Thr) c.-13G>A (n.-13G>A) c.787G>A (p.Ala263Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42538721G>C | CA399599025 | NAGLU | c.730G>C (p.Ala244Pro) c.332G>C c.325G>C (p.Ala109Pro) c.-13G>C (n.-13G>C) c.787G>C (p.Ala263Pro) | |
17 | g.42538721G= | CA2260527988 | NAGLU | c.730G= (p.Ala244=) c.332G= c.325G= (p.Ala109=) c.-13G= (n.-13G=) c.787G= (p.Ala263=) | |
17 | g.42538721G>T | CA399599027 | NAGLU | c.730G>T (p.Ala244Ser) c.332G>T c.325G>T (p.Ala109Ser) c.-13G>T (n.-13G>T) c.787G>T (p.Ala263Ser) | |
17 | g.42538722C>A | CA399599029 | NAGLU | c.731C>A (p.Ala244Glu) c.333C>A c.326C>A (p.Ala109Glu) c.-12C>A (n.-12C>A) c.788C>A (p.Ala263Glu) | |
17 | g.42538722C>G | CA399599032 | NAGLU | c.731C>G (p.Ala244Gly) c.333C>G c.326C>G (p.Ala109Gly) c.-12C>G (n.-12C>G) c.788C>G (p.Ala263Gly) | |
17 | g.42538722C>T | CA399599030 | NAGLU | c.731C>T (p.Ala244Val) c.333C>T c.326C>T (p.Ala109Val) c.-12C>T (n.-12C>T) c.788C>T (p.Ala263Val) | |
17 | g.42538723A= | CA2260527989 | NAGLU | c.732A= (p.Ala244=) c.334A= c.327A= (p.Ala109=) c.-11A= (n.-11A=) c.789A= (p.Ala263=) | |
17 | g.42538723A>C | CA8576839 | NAGLU | c.732A>C (p.Ala244=) c.334A>C c.327A>C (p.Ala109=) c.-11A>C (n.-11A>C) c.789A>C (p.Ala263=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538723A>G | CA500216512 | NAGLU | c.732A>G (p.Ala244=) c.334A>G c.327A>G (p.Ala109=) c.-11A>G (n.-11A>G) c.789A>G (p.Ala263=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538723A>T | CA500216513 | NAGLU | c.732A>T (p.Ala244=) c.334A>T c.327A>T (p.Ala109=) c.-11A>T (n.-11A>T) c.789A>T (p.Ala263=) | |
17 | g.42538724T>A | CA399599037 | NAGLU | c.733T>A (p.Phe245Ile) c.335T>A c.328T>A (p.Phe110Ile) c.-10T>A (n.-10T>A) c.790T>A (p.Phe264Ile) | |
17 | g.42538724T>C | CA399599036 | NAGLU | c.733T>C (p.Phe245Leu) c.335T>C c.328T>C (p.Phe110Leu) c.-10T>C (n.-10T>C) c.790T>C (p.Phe264Leu) | ClinVar |
17 | g.42538724T>G | CA399599038 | NAGLU | c.733T>G (p.Phe245Val) c.335T>G c.328T>G (p.Phe110Val) c.-10T>G (n.-10T>G) c.790T>G (p.Phe264Val) | |
17 | g.42538727_42538739dup | CA2740095354 | NAGLU | c.736_748dup (p.Pro250ArgfsTer27) c.338_350dup c.331_343dup (p.Pro115ArgfsTer?) c.-7_6dup (p.Pro3AlafsTer?) c.-7_6dup (p.Pro3AlafsTer13) c.793_805dup (p.Pro269ArgfsTer27) | ClinVar |
17 | g.42538725T>A | CA399599041 | NAGLU | c.734T>A (p.Phe245Tyr) c.336T>A c.329T>A (p.Phe110Tyr) c.-9T>A (n.-9T>A) c.791T>A (p.Phe264Tyr) | |
17 | g.42538725T>C | CA399599042 | NAGLU | c.734T>C (p.Phe245Ser) c.336T>C c.329T>C (p.Phe110Ser) c.-9T>C (n.-9T>C) c.791T>C (p.Phe264Ser) | |
17 | g.42538725T>G | CA399599044 | NAGLU | c.734T>G (p.Phe245Cys) c.336T>G c.329T>G (p.Phe110Cys) c.-9T>G (n.-9T>G) c.791T>G (p.Phe264Cys) | |
17 | g.42538726C>A | CA399599046 | NAGLU | c.735C>A (p.Phe245Leu) c.337C>A c.330C>A (p.Phe110Leu) c.-8C>A (n.-8C>A) c.792C>A (p.Phe264Leu) | |
17 | g.42538726C= | CA2260527990 | NAGLU | c.735C= (p.Phe245=) c.337C= c.330C= (p.Phe110=) c.-8C= (n.-8C=) c.792C= (p.Phe264=) | |
17 | g.42538726C>G | CA399599048 | NAGLU | c.735C>G (p.Phe245Leu) c.337C>G c.330C>G (p.Phe110Leu) c.-8C>G (n.-8C>G) c.792C>G (p.Phe264Leu) | |
17 | g.42538726C>T | CA8576840 | NAGLU | c.735C>T (p.Phe245=) c.337C>T c.330C>T (p.Phe110=) c.-8C>T (n.-8C>T) c.792C>T (p.Phe264=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538727del | CA500216514 | NAGLU | c.736del (p.Ala246ArgfsTer?) c.338del c.331del (p.Ala111ArgfsTer?) c.-7del (n.-7del) c.793del (p.Ala265ArgfsTer?) | COSMIC |
17 | g.42538727G>A | CA399599050 | NAGLU | c.736G>A (p.Ala246Thr) c.338G>A c.331G>A (p.Ala111Thr) c.-7G>A (n.-7G>A) c.793G>A (p.Ala265Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538727G>C | CA399599052 | NAGLU | c.736G>C (p.Ala246Pro) c.338G>C c.331G>C (p.Ala111Pro) c.-7G>C (n.-7G>C) c.793G>C (p.Ala265Pro) | ClinVar dbSNP gnomAD v4 |
17 | g.42538727G= | CA2260527991 | NAGLU | c.736G= (p.Ala246=) c.338G= c.331G= (p.Ala111=) c.-7G= (n.-7G=) c.793G= (p.Ala265=) | |
17 | g.42538727G>T | CA399599054 | NAGLU | c.736G>T (p.Ala246Ser) c.338G>T c.331G>T (p.Ala111Ser) c.-7G>T (n.-7G>T) c.793G>T (p.Ala265Ser) | gnomAD v3 gnomAD v4 |
17 | g.42538728C>A | CA399599056 | NAGLU | c.737C>A (p.Ala246Glu) c.339C>A c.332C>A (p.Ala111Glu) c.-6C>A (n.-6C>A) c.794C>A (p.Ala265Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42538728C= | CA2260527992 | NAGLU | c.737C= (p.Ala246=) c.339C= c.332C= (p.Ala111=) c.-6C= (n.-6C=) c.794C= (p.Ala265=) | |
17 | g.42538728C>G | CA399599057 | NAGLU | c.737C>G (p.Ala246Gly) c.339C>G c.332C>G (p.Ala111Gly) c.-6C>G (n.-6C>G) c.794C>G (p.Ala265Gly) | |
17 | g.42538728C>T | CA399599058 | NAGLU | c.737C>T (p.Ala246Val) c.339C>T c.332C>T (p.Ala111Val) c.-6C>T (n.-6C>T) c.794C>T (p.Ala265Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42538729G>A | CA8576841 | NAGLU | c.738G>A (p.Ala246=) c.340G>A c.333G>A (p.Ala111=) c.-5G>A (n.-5G>A) c.795G>A (p.Ala265=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538729G>C | CA500216516 | NAGLU | c.738G>C (p.Ala246=) c.340G>C c.333G>C (p.Ala111=) c.-5G>C (n.-5G>C) c.795G>C (p.Ala265=) | ClinVar gnomAD v4 |
17 | g.42538729G= | CA2260527993 | NAGLU | c.738G= (p.Ala246=) c.340G= c.333G= (p.Ala111=) c.-5G= (n.-5G=) c.795G= (p.Ala265=) | |
17 | g.42538729G>T | CA500216515 | NAGLU | c.738G>T (p.Ala246=) c.340G>T c.333G>T (p.Ala111=) c.-5G>T (n.-5G>T) c.795G>T (p.Ala265=) | |
17 | g.42538732del | CA2580093988 | NAGLU | c.741del (p.His248MetfsTer?) c.343del c.336del (p.His113MetfsTer?) c.-2del (n.-2del) c.798del (p.His267MetfsTer?) | ClinVar |
17 | g.42538730G>A | CA399599064 | NAGLU | c.739G>A (p.Gly247Arg) c.341G>A c.334G>A (p.Gly112Arg) c.-4G>A (n.-4G>A) c.796G>A (p.Gly266Arg) | |
17 | g.42538730G>C | CA399599061 | NAGLU | c.739G>C (p.Gly247Arg) c.341G>C c.334G>C (p.Gly112Arg) c.-4G>C (n.-4G>C) c.796G>C (p.Gly266Arg) | |
17 | g.42538730G>T | CA399599063 | NAGLU | c.739G>T (p.Gly247Trp) c.341G>T c.334G>T (p.Gly112Trp) c.-4G>T (n.-4G>T) c.796G>T (p.Gly266Trp) | ClinVar |
17 | g.42538731G>A | CA399599066 | NAGLU | c.740G>A (p.Gly247Glu) c.342G>A c.335G>A (p.Gly112Glu) c.-3G>A (n.-3G>A) c.797G>A (p.Gly266Glu) | |
17 | g.42538731G>C | CA399599068 | NAGLU | c.740G>C (p.Gly247Ala) c.342G>C c.335G>C (p.Gly112Ala) c.-3G>C (n.-3G>C) c.797G>C (p.Gly266Ala) | gnomAD v4 |
17 | g.42538731G>T | CA399599070 | NAGLU | c.740G>T (p.Gly247Val) c.342G>T c.335G>T (p.Gly112Val) c.-3G>T (n.-3G>T) c.797G>T (p.Gly266Val) | |
17 | g.42538732G>A | CA500216517 | NAGLU | c.741G>A (p.Gly247=) c.343G>A c.336G>A (p.Gly112=) c.-2G>A (n.-2G>A) c.798G>A (p.Gly266=) | gnomAD v4 |
17 | g.42538732G>C | CA8576842 | NAGLU | c.741G>C (p.Gly247=) c.343G>C c.336G>C (p.Gly112=) c.-2G>C (n.-2G>C) c.798G>C (p.Gly266=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538732G= | CA2260527994 | NAGLU | c.741G= (p.Gly247=) c.343G= c.336G= (p.Gly112=) c.-2G= (n.-2G=) c.798G= (p.Gly266=) | |
17 | g.42538732G>T | CA500216518 | NAGLU | c.741G>T (p.Gly247=) c.343G>T c.336G>T (p.Gly112=) c.-2G>T (n.-2G>T) c.798G>T (p.Gly266=) | |
17 | g.42538733C>A | CA399599073 | NAGLU | c.742C>A (p.His248Asn) c.344C>A c.337C>A (p.His113Asn) c.-1C>A (n.-1C>A) c.799C>A (p.His267Asn) | |
17 | g.42538733C>G | CA399599075 | NAGLU | c.742C>G (p.His248Asp) c.344C>G c.337C>G (p.His113Asp) c.-1C>G (n.-1C>G) c.799C>G (p.His267Asp) | |
17 | g.42538733C>T | CA399599076 | NAGLU | c.742C>T (p.His248Tyr) c.344C>T c.337C>T (p.His113Tyr) c.-1C>T (n.-1C>T) c.799C>T (p.His267Tyr) | gnomAD v4 |
17 | g.42538734A= | CA2260527995 | NAGLU | c.743A= (p.His248=) c.345A= c.338A= (p.His113=) c.1A= (p.Met1=) c.800A= (p.His267=) | |
17 | g.42538734A>C | CA399599079 | NAGLU | c.743A>C (p.His248Pro) c.345A>C c.338A>C (p.His113Pro) c.1A>C (p.Met1Leu) c.800A>C (p.His267Pro) | gnomAD v4 |
17 | g.42538734A>G | CA399599080 | NAGLU | c.743A>G (p.His248Arg) c.345A>G c.338A>G (p.His113Arg) c.1A>G (p.Met1Val) c.800A>G (p.His267Arg) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42538734A>T | CA399599082 | NAGLU | c.743A>T (p.His248Leu) c.345A>T c.338A>T (p.His113Leu) c.1A>T (p.Met1Leu) c.800A>T (p.His267Leu) | dbSNP |
17 | g.42538735T>A | CA399599084 | NAGLU | c.744T>A (p.His248Gln) c.346T>A c.339T>A (p.His113Gln) c.2T>A (p.Met1Lys) c.801T>A (p.His267Gln) | |
17 | g.42538735T>C | CA500216519 | NAGLU | c.744T>C (p.His248=) c.346T>C c.339T>C (p.His113=) c.2T>C (p.Met1Thr) c.801T>C (p.His267=) | ClinVar dbSNP gnomAD v4 |
17 | g.42538735T>G | CA399599086 | NAGLU | c.744T>G (p.His248Gln) c.346T>G c.339T>G (p.His113Gln) c.2T>G (p.Met1Arg) c.801T>G (p.His267Gln) | |
17 | g.42538735T= | CA2260527996 | NAGLU | c.744T= (p.His248=) c.346T= c.339T= (p.His113=) c.2T= (p.Met1=) c.801T= (p.His267=) | |
17 | g.42538736G>A | CA399599087 | NAGLU | c.745G>A (p.Val249Ile) c.347G>A c.340G>A (p.Val114Ile) c.3G>A (p.Met1Ile) c.802G>A (p.Val268Ile) | ClinVar dbSNP |
17 | g.42538736G>C | CA399599090 | NAGLU | c.745G>C (p.Val249Leu) c.347G>C c.340G>C (p.Val114Leu) c.3G>C (p.Met1Ile) c.802G>C (p.Val268Leu) | |
17 | g.42538736G= | CA2260527997 | NAGLU | c.745G= (p.Val249=) c.347G= c.340G= (p.Val114=) c.3G= (p.Met1=) c.802G= (p.Val268=) | |
17 | g.42538736G>T | CA399599088 | NAGLU | c.745G>T (p.Val249Phe) c.347G>T c.340G>T (p.Val114Phe) c.3G>T (p.Met1Ile) c.802G>T (p.Val268Phe) | |
17 | g.42538737T>A | CA399599092 | NAGLU | c.746T>A (p.Val249Asp) c.348T>A c.341T>A (p.Val114Asp) c.4T>A (p.Phe2Ile) c.803T>A (p.Val268Asp) | |
17 | g.42538737T>C | CA399599094 | NAGLU | c.746T>C (p.Val249Ala) c.348T>C c.341T>C (p.Val114Ala) c.4T>C (p.Phe2Leu) c.803T>C (p.Val268Ala) | |
17 | g.42538737T>G | CA399599096 | NAGLU | c.746T>G (p.Val249Gly) c.348T>G c.341T>G (p.Val114Gly) c.4T>G (p.Phe2Val) c.803T>G (p.Val268Gly) | |
17 | g.42538738T>A | CA500216521 | NAGLU | c.747T>A (p.Val249=) c.349T>A c.342T>A (p.Val114=) c.5T>A (p.Phe2Tyr) c.804T>A (p.Val268=) | dbSNP |
17 | g.42538738T>C | CA500216522 | NAGLU | c.747T>C (p.Val249=) c.349T>C c.342T>C (p.Val114=) c.5T>C (p.Phe2Ser) c.804T>C (p.Val268=) | gnomAD v4 |
17 | g.42538738T>G | CA500216520 | NAGLU | c.747T>G (p.Val249=) c.349T>G c.342T>G (p.Val114=) c.5T>G (p.Phe2Cys) c.804T>G (p.Val268=) | |
17 | g.42538738T= | CA2260527998 | NAGLU | c.747T= (p.Val249=) c.349T= c.342T= (p.Val114=) c.5T= (p.Phe2=) c.804T= (p.Val268=) | |
17 | g.42538739C>A | CA399599098 | NAGLU | c.748C>A (p.Pro250Thr) c.350C>A c.343C>A (p.Pro115Thr) c.6C>A (p.Phe2Leu) c.805C>A (p.Pro269Thr) | |
17 | g.42538739C= | CA2260527999 | NAGLU | c.748C= (p.Pro250=) c.350C= c.343C= (p.Pro115=) c.6C= (p.Phe2=) c.805C= (p.Pro269=) | |
17 | g.42538739C>G | CA399599099 | NAGLU | c.748C>G (p.Pro250Ala) c.350C>G c.343C>G (p.Pro115Ala) c.6C>G (p.Phe2Leu) c.805C>G (p.Pro269Ala) | |
17 | g.42538739C>T | CA399599101 | NAGLU | c.748C>T (p.Pro250Ser) c.350C>T c.343C>T (p.Pro115Ser) c.6C>T (p.Phe2=) c.805C>T (p.Pro269Ser) | dbSNP gnomAD v4 |
17 | g.42538740C>A | CA399599102 | NAGLU | c.749C>A (p.Pro250His) c.351C>A c.344C>A (p.Pro115His) c.7C>A (p.Pro3Thr) c.806C>A (p.Pro269His) | |
17 | g.42538740C>G | CA399599104 | NAGLU | c.749C>G (p.Pro250Arg) c.351C>G c.344C>G (p.Pro115Arg) c.7C>G (p.Pro3Ala) c.806C>G (p.Pro269Arg) | |
17 | g.42538740C>T | CA399599106 | NAGLU | c.749C>T (p.Pro250Leu) c.351C>T c.344C>T (p.Pro115Leu) c.7C>T (p.Pro3Ser) c.806C>T (p.Pro269Leu) | gnomAD v4 |
17 | g.42538741C>A | CA500216524 | NAGLU | c.750C>A (p.Pro250=) c.352C>A c.345C>A (p.Pro115=) c.8C>A (p.Pro3Gln) c.807C>A (p.Pro269=) | |
17 | g.42538741C= | CA2260528000 | NAGLU | c.750C= (p.Pro250=) c.352C= c.345C= (p.Pro115=) c.8C= (p.Pro3=) c.807C= (p.Pro269=) | |
17 | g.42538741C>G | CA500216523 | NAGLU | c.750C>G (p.Pro250=) c.352C>G c.345C>G (p.Pro115=) c.8C>G (p.Pro3Arg) c.807C>G (p.Pro269=) | ClinVar dbSNP |
17 | g.42538741C>T | CA8576843 | NAGLU | c.750C>T (p.Pro250=) c.352C>T c.345C>T (p.Pro115=) c.8C>T (p.Pro3Leu) c.807C>T (p.Pro269=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538742G>A | CA8576844 | NAGLU | c.751G>A (p.Glu251Lys) c.353G>A c.346G>A (p.Glu116Lys) c.9G>A (p.Pro3=) c.808G>A (p.Glu270Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42538742G>C | CA399599109 | NAGLU | c.751G>C (p.Glu251Gln) c.353G>C c.346G>C (p.Glu116Gln) c.9G>C (p.Pro3=) c.808G>C (p.Glu270Gln) | gnomAD v4 |
17 | g.42538742G= | CA2260528001 | NAGLU | c.751G= (p.Glu251=) c.353G= c.346G= (p.Glu116=) c.9G= (p.Pro3=) c.808G= (p.Glu270=) | |
17 | g.42538742G>T | CA399599111 | NAGLU | c.751G>T (p.Glu251Ter) c.353G>T c.346G>T (p.Glu116Ter) c.9G>T (p.Pro3=) c.808G>T (p.Glu270Ter) | |
17 | g.42538743A>C | CA399599113 | NAGLU | c.752A>C (p.Glu251Ala) c.354A>C c.347A>C (p.Glu116Ala) c.10A>C (p.Arg4=) c.809A>C (p.Glu270Ala) | |
17 | g.42538743A>G | CA399599117 | NAGLU | c.752A>G (p.Glu251Gly) c.354A>G c.347A>G (p.Glu116Gly) c.10A>G (p.Arg4Gly) c.809A>G (p.Glu270Gly) | |
17 | g.42538743A>T | CA399599115 | NAGLU | c.752A>T (p.Glu251Val) c.354A>T c.347A>T (p.Glu116Val) c.10A>T (p.Arg4Trp) c.809A>T (p.Glu270Val) | |
17 | g.42538744G>A | CA8576845 | NAGLU | c.753G>A (p.Glu251=) c.355G>A c.348G>A (p.Glu116=) c.11G>A (p.Arg4Lys) c.810G>A (p.Glu270=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42538744G>C | CA399599118 | NAGLU | c.753G>C (p.Glu251Asp) c.355G>C c.348G>C (p.Glu116Asp) c.11G>C (p.Arg4Thr) c.810G>C (p.Glu270Asp) | |
17 | g.42538744G= | CA2260528002 | NAGLU | c.753G= (p.Glu251=) c.355G= c.348G= (p.Glu116=) c.11G= (p.Arg4=) c.810G= (p.Glu270=) | |
17 | g.42538744G>T | CA399599120 | NAGLU | c.753G>T (p.Glu251Asp) c.355G>T c.348G>T (p.Glu116Asp) c.11G>T (p.Arg4Met) c.810G>T (p.Glu270Asp) | |
17 | g.42538745G>A | CA399599122 | NAGLU | c.754G>A (p.Ala252Thr) c.356G>A c.349G>A (p.Ala117Thr) c.12G>A (p.Arg4=) c.811G>A (p.Ala271Thr) | |
17 | g.42538745G>C | CA399599123 | NAGLU | c.754G>C (p.Ala252Pro) c.356G>C c.349G>C (p.Ala117Pro) c.12G>C (p.Arg4Ser) c.811G>C (p.Ala271Pro) | |
17 | g.42538745G>T | CA399599124 | NAGLU | c.754G>T (p.Ala252Ser) c.356G>T c.349G>T (p.Ala117Ser) c.12G>T (p.Arg4Ser) c.811G>T (p.Ala271Ser) | |
17 | g.42538746C>A | CA399599126 | NAGLU | c.755C>A (p.Ala252Asp) c.357C>A c.350C>A (p.Ala117Asp) c.13C>A (p.Leu5Met) c.812C>A (p.Ala271Asp) | |
17 | g.42538746C>G | CA399599128 | NAGLU | c.755C>G (p.Ala252Gly) c.357C>G c.350C>G (p.Ala117Gly) c.13C>G (p.Leu5Val) c.812C>G (p.Ala271Gly) | |
17 | g.42538746C>T | CA399599130 | NAGLU | c.755C>T (p.Ala252Val) c.357C>T c.350C>T (p.Ala117Val) c.13C>T (p.Leu5=) c.812C>T (p.Ala271Val) | gnomAD v4 |
17 | g.42538747T>A | CA500216525 | NAGLU | c.756T>A (p.Ala252=) c.358T>A c.351T>A (p.Ala117=) c.14T>A (p.Leu5Gln) c.813T>A (p.Ala271=) | |
17 | g.42538747T>C | CA290773485 | NAGLU | c.756T>C (p.Ala252=) c.358T>C c.351T>C (p.Ala117=) c.14T>C (p.Leu5Pro) c.813T>C (p.Ala271=) | dbSNP gnomAD v4 |
17 | g.42538747T>G | CA500216526 | NAGLU | c.756T>G (p.Ala252=) c.358T>G c.351T>G (p.Ala117=) c.14T>G (p.Leu5Arg) c.813T>G (p.Ala271=) | ClinVar dbSNP |
17 | g.42538747T= | CA2260528003 | NAGLU | c.756T= (p.Ala252=) c.358T= c.351T= (p.Ala117=) c.14T= (p.Leu5=) c.813T= (p.Ala271=) | |
17 | g.42538748G>A | CA8576846 | NAGLU | c.757G>A (p.Val253Ile) c.359G>A c.352G>A (p.Val118Ile) c.15G>A (p.Leu5=) c.814G>A (p.Val272Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538748G>C | CA399599133 | NAGLU | c.757G>C (p.Val253Leu) c.359G>C c.352G>C (p.Val118Leu) c.15G>C (p.Leu5=) c.814G>C (p.Val272Leu) | |
17 | g.42538748G= | CA2260528004 | NAGLU | c.757G= (p.Val253=) c.359G= c.352G= (p.Val118=) c.15G= (p.Leu5=) c.814G= (p.Val272=) | |
17 | g.42538748G>T | CA399599132 | NAGLU | c.757G>T (p.Val253Phe) c.359G>T c.352G>T (p.Val118Phe) c.15G>T (p.Leu5=) c.814G>T (p.Val272Phe) | |
17 | g.42538749T>A | CA399599138 | NAGLU | c.758T>A (p.Val253Asp) c.360T>A c.353T>A (p.Val118Asp) c.16T>A (p.Ser6Thr) c.815T>A (p.Val272Asp) | |
17 | g.42538749T>C | CA399599135 | NAGLU | c.758T>C (p.Val253Ala) c.360T>C c.353T>C (p.Val118Ala) c.16T>C (p.Ser6Pro) c.815T>C (p.Val272Ala) | |
17 | g.42538749T>G | CA399599136 | NAGLU | c.758T>G (p.Val253Gly) c.360T>G c.353T>G (p.Val118Gly) c.16T>G (p.Ser6Ala) c.815T>G (p.Val272Gly) | |
17 | g.42538750C>A | CA500216529 | NAGLU | c.759C>A (p.Val253=) c.361C>A c.354C>A (p.Val118=) c.17C>A (p.Ser6Ter) c.816C>A (p.Val272=) | |
17 | g.42538750C>G | CA500216527 | NAGLU | c.759C>G (p.Val253=) c.361C>G c.354C>G (p.Val118=) c.17C>G (p.Ser6Ter) c.816C>G (p.Val272=) | |
17 | g.42538750C>T | CA500216528 | NAGLU | c.759C>T (p.Val253=) c.361C>T c.354C>T (p.Val118=) c.17C>T (p.Ser6Leu) c.816C>T (p.Val272=) | ClinVar gnomAD v4 |
17 | g.42538751A>C | CA399599140 | NAGLU | c.760A>C (p.Thr254Pro) c.362A>C c.355A>C (p.Thr119Pro) c.18A>C (p.Ser6=) c.817A>C (p.Thr273Pro) | |
17 | g.42538751A>G | CA399599142 | NAGLU | c.760A>G (p.Thr254Ala) c.362A>G c.355A>G (p.Thr119Ala) c.18A>G (p.Ser6=) c.817A>G (p.Thr273Ala) | |
17 | g.42538751A>T | CA399599143 | NAGLU | c.760A>T (p.Thr254Ser) c.362A>T c.355A>T (p.Thr119Ser) c.18A>T (p.Ser6=) c.817A>T (p.Thr273Ser) | |
17 | g.42538752C>A | CA399599147 | NAGLU | c.761C>A (p.Thr254Asn) c.363C>A c.356C>A (p.Thr119Asn) c.19C>A (p.Pro7Thr) c.818C>A (p.Thr273Asn) | |
17 | g.42538752C= | CA2260528005 | NAGLU | c.761C= (p.Thr254=) c.363C= c.356C= (p.Thr119=) c.19C= (p.Pro7=) c.818C= (p.Thr273=) | |
17 | g.42538752C>G | CA399599146 | NAGLU | c.761C>G (p.Thr254Ser) c.363C>G c.356C>G (p.Thr119Ser) c.19C>G (p.Pro7Ala) c.818C>G (p.Thr273Ser) | |
17 | g.42538752C>T | CA8576847 | NAGLU | c.761C>T (p.Thr254Ile) c.363C>T c.356C>T (p.Thr119Ile) c.19C>T (p.Pro7Ser) c.818C>T (p.Thr273Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42538753C>A | CA500216531 | NAGLU | c.762C>A (p.Thr254=) c.364C>A c.357C>A (p.Thr119=) c.20C>A (p.Pro7Gln) c.819C>A (p.Thr273=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42538753C= | CA2260528006 | NAGLU | c.762C= (p.Thr254=) c.364C= c.357C= (p.Thr119=) c.20C= (p.Pro7=) c.819C= (p.Thr273=) | |
17 | g.42538753C>G | CA500216532 | NAGLU | c.762C>G (p.Thr254=) c.364C>G c.357C>G (p.Thr119=) c.20C>G (p.Pro7Arg) c.819C>G (p.Thr273=) | |
17 | g.42538753C>T | CA500216530 | NAGLU | c.762C>T (p.Thr254=) c.364C>T c.357C>T (p.Thr119=) c.20C>T (p.Pro7Leu) c.819C>T (p.Thr273=) | ClinVar gnomAD v4 |
17 | g.42538754A>C | CA399599149 | NAGLU | c.763A>C (p.Arg255=) c.365A>C c.358A>C (p.Ser120Arg) c.21A>C (p.Pro7=) c.820A>C (p.Arg274=) | ClinVar gnomAD v4 |
17 | g.42538754A>G | CA399599151 | NAGLU | c.763A>G (p.Arg255Gly) c.365A>G c.358A>G (p.Ser120Gly) c.21A>G (p.Pro7=) c.820A>G (p.Arg274Gly) | |
17 | g.42538754A>T | CA399599153 | NAGLU | c.763A>T (p.Arg255Trp) c.365A>T c.358A>T (p.Ser120Cys) c.21A>T (p.Pro7=) c.820A>T (p.Arg274Trp) | ClinVar gnomAD v4 |
17 | g.42538754dup | CA2695226064 | NAGLU | c.763dup (p.Arg255LysfsTer18) c.365dup c.358dup (p.Ser120LysfsTer?) c.21dup (p.Asp8ArgfsTer?) c.21dup (p.Val8SerfsTer4) c.820dup (p.Arg274LysfsTer18) | |
17 | g.42538755G>A | CA399599155 | NAGLU | c.764G>A (p.Arg255Lys) c.366G>A c.359G>A (p.Ser120Asn) c.22G>A (p.Asp8Asn) c.22G>A (p.Val8Met) c.821G>A (p.Arg274Lys) | |
17 | g.42538755G>C | CA399599156 | NAGLU | c.764G>C (p.Arg255Thr) c.366G>C c.359G>C (p.Ser120Thr) c.22G>C (p.Asp8His) c.22G>C (p.Val8Leu) c.821G>C (p.Arg274Thr) | ClinVar dbSNP |
17 | g.42538755G>T | CA399599158 | NAGLU | c.764G>T (p.Arg255Met) c.366G>T c.359G>T (p.Ser120Ile) c.22G>T (p.Asp8Tyr) c.22G>T (p.Val8Leu) c.821G>T (p.Arg274Met) | |
17 | g.42538756G>A | CA399599160 | NAGLU | c.764+1G>A (n.764+1G>A) c.366+1G>A c.359+1G>A (n.359+1G>A) c.22+1G>A (n.22+1G>A) c.821+1G>A (n.821+1G>A) | gnomAD v4 |
17 | g.42538756G>C | CA399599164 | NAGLU | c.764+1G>C (n.764+1G>C) c.366+1G>C c.359+1G>C (n.359+1G>C) c.22+1G>C (n.22+1G>C) c.821+1G>C (n.821+1G>C) | |
17 | g.42538756G>T | CA399599162 | NAGLU | c.764+1G>T (n.764+1G>T) c.366+1G>T c.359+1G>T (n.359+1G>T) c.22+1G>T (n.22+1G>T) c.821+1G>T (n.821+1G>T) | |
17 | g.42538757T>A | CA399599166 | NAGLU | c.764+2T>A (n.764+2T>A) c.366+2T>A c.359+2T>A (n.359+2T>A) c.22+2T>A (n.22+2T>A) c.821+2T>A (n.821+2T>A) | |
17 | g.42538757T>C | CA399599167 | NAGLU | c.764+2T>C (n.764+2T>C) c.366+2T>C c.359+2T>C (n.359+2T>C) c.22+2T>C (n.22+2T>C) c.821+2T>C (n.821+2T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42538757T>G | CA399599169 | NAGLU | c.764+2T>G (n.764+2T>G) c.366+2T>G c.359+2T>G (n.359+2T>G) c.22+2T>G (n.22+2T>G) c.821+2T>G (n.821+2T>G) | |
17 | g.42538757T= | CA2260528007 | NAGLU | c.764+2T= (n.764+2T=) c.366+2T= c.359+2T= (n.359+2T=) c.22+2T= (n.22+2T=) c.821+2T= (n.821+2T=) | |
17 | g.42538758G>A | CA2260528009 | NAGLU | c.764+3G>A (n.764+3G>A) c.366+3G>A c.359+3G>A (n.359+3G>A) c.22+3G>A (n.22+3G>A) c.821+3G>A (n.821+3G>A) | dbSNP |
17 | g.42538758G= | CA2260528008 | NAGLU | c.764+3G= (n.764+3G=) c.366+3G= c.359+3G= (n.359+3G=) c.22+3G= (n.22+3G=) c.821+3G= (n.821+3G=) | |
17 | g.42538758G>T | CA8576848 | NAGLU | c.764+3G>T (n.764+3G>T) c.366+3G>T c.359+3G>T (n.359+3G>T) c.22+3G>T (n.22+3G>T) c.821+3G>T (n.821+3G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538760G>A | CA983829198 | NAGLU | c.764+5G>A (n.764+5G>A) c.366+5G>A c.359+5G>A (n.359+5G>A) c.22+5G>A (n.22+5G>A) c.821+5G>A (n.821+5G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42538760G= | CA2260528010 | NAGLU | c.764+5G= (n.764+5G=) c.366+5G= c.359+5G= (n.359+5G=) c.22+5G= (n.22+5G=) c.821+5G= (n.821+5G=) | |
17 | g.42538761del | CA2637969901 | NAGLU | c.764+6del (n.764+6del) c.366+6del c.359+6del (n.359+6del) c.22+6del (n.22+6del) c.821+6del (n.821+6del) | gnomAD v4 |
17 | g.42538761G>A | CA8576849 | NAGLU | c.764+6G>A (n.764+6G>A) c.366+6G>A c.359+6G>A (n.359+6G>A) c.22+6G>A (n.22+6G>A) c.821+6G>A (n.821+6G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42538761G= | CA2260528011 | NAGLU | c.764+6G= (n.764+6G=) c.366+6G= c.359+6G= (n.359+6G=) c.22+6G= (n.22+6G=) c.821+6G= (n.821+6G=) | |
17 | g.42538761G>T | CA2576295398 | NAGLU | c.764+6G>T (n.764+6G>T) c.366+6G>T c.359+6G>T (n.359+6G>T) c.22+6G>T (n.22+6G>T) c.821+6G>T (n.821+6G>T) | |
17 | g.42538763T>C | CA2573153969 | NAGLU | c.764+8T>C (n.764+8T>C) c.366+8T>C c.359+8T>C (n.359+8T>C) c.22+8T>C (n.22+8T>C) c.821+8T>C (n.821+8T>C) | ClinVar dbSNP |
17 | g.42538764C>T | CA645588244 | NAGLU | c.764+9C>T (n.764+9C>T) c.366+9C>T c.359+9C>T (n.359+9C>T) c.22+9C>T (n.22+9C>T) c.821+9C>T (n.821+9C>T) | ClinVar gnomAD v4 COSMIC |
17 | g.42538765C= | CA2260528012 | NAGLU | c.764+10C= (n.764+10C=) c.366+10C= c.359+10C= (n.359+10C=) c.22+10C= (n.22+10C=) c.821+10C= (n.821+10C=) | |
17 | g.42538765C>G | CA2260528013 | NAGLU | c.764+10C>G (n.764+10C>G) c.366+10C>G c.359+10C>G (n.359+10C>G) c.22+10C>G (n.22+10C>G) c.821+10C>G (n.821+10C>G) | ClinVar dbSNP |
17 | g.42538765C>T | CA8576850 | NAGLU | c.764+10C>T (n.764+10C>T) c.366+10C>T c.359+10C>T (n.359+10C>T) c.22+10C>T (n.22+10C>T) c.821+10C>T (n.821+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538766G>A | CA8576851 | NAGLU | c.764+11G>A (n.764+11G>A) c.366+11G>A c.359+11G>A (n.359+11G>A) c.22+11G>A (n.22+11G>A) c.821+11G>A (n.821+11G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538766G= | CA2260528014 | NAGLU | c.764+11G= (n.764+11G=) c.366+11G= c.359+11G= (n.359+11G=) c.22+11G= (n.22+11G=) c.821+11G= (n.821+11G=) | |
17 | g.42538767C= | CA2260528015 | NAGLU | c.764+12C= (n.764+12C=) c.366+12C= c.359+12C= (n.359+12C=) c.22+12C= (n.22+12C=) c.821+12C= (n.821+12C=) | |
17 | g.42538767C>G | CA290773526 | NAGLU | c.764+12C>G (n.764+12C>G) c.366+12C>G c.359+12C>G (n.359+12C>G) c.22+12C>G (n.22+12C>G) c.821+12C>G (n.821+12C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538767C>T | CA772111646 | NAGLU | c.764+12C>T (n.764+12C>T) c.366+12C>T c.359+12C>T (n.359+12C>T) c.22+12C>T (n.22+12C>T) c.821+12C>T (n.821+12C>T) | dbSNP gnomAD v4 |
17 | g.42538769C>T | CA2576295399 | NAGLU | c.764+14C>T (n.764+14C>T) c.366+14C>T c.359+14C>T (n.359+14C>T) c.22+14C>T (n.22+14C>T) c.821+14C>T (n.821+14C>T) | ClinVar |
17 | g.42538770A= | CA2260528017 | NAGLU | c.764+15A= (n.764+15A=) c.366+15A= c.359+15A= (n.359+15A=) c.22+15A= (n.22+15A=) c.821+15A= (n.821+15A=) | |
17 | g.42538770A>G | CA626218582 | NAGLU | c.764+15A>G (n.764+15A>G) c.366+15A>G c.359+15A>G (n.359+15A>G) c.22+15A>G (n.22+15A>G) c.821+15A>G (n.821+15A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538770dup | CA2637969902 | NAGLU | c.764+15dup (n.764+15dup) c.366+15dup c.359+15dup (n.359+15dup) c.22+15dup (n.22+15dup) c.821+15dup (n.821+15dup) | gnomAD v4 |
17 | g.42538770_42538771delinsAC | CA2260528016 | NAGLU | c.764+15_764+16delinsAC (n.764+15_764+16delinsAC) c.366+15_366+16delinsAC c.359+15_359+16delinsAC (n.359+15_359+16delinsAC) c.22+15_22+16delinsAC (n.22+15_22+16delinsAC) c.821+15_821+16delinsAC (n.821+15_821+16delinsAC) | |
17 | g.42538771C= | CA2260528018 | NAGLU | c.764+16C= (n.764+16C=) c.366+16C= c.359+16C= (n.359+16C=) c.22+16C= (n.22+16C=) c.821+16C= (n.821+16C=) | |
17 | g.42538771C>G | CA2637969903 | NAGLU | c.764+16C>G (n.764+16C>G) c.366+16C>G c.359+16C>G (n.359+16C>G) c.22+16C>G (n.22+16C>G) c.821+16C>G (n.821+16C>G) | gnomAD v4 |
17 | g.42538771C>T | CA8576853 | NAGLU | c.764+16C>T (n.764+16C>T) c.366+16C>T c.359+16C>T (n.359+16C>T) c.22+16C>T (n.22+16C>T) c.821+16C>T (n.821+16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538775del | CA8576852 | NAGLU | c.764+20del (n.764+20del) c.366+20del c.359+20del (n.359+20del) c.22+20del (n.22+20del) c.821+20del (n.821+20del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538772C>A | CA2637969904 | NAGLU | c.764+17C>A (n.764+17C>A) c.366+17C>A c.359+17C>A (n.359+17C>A) c.22+17C>A (n.22+17C>A) c.821+17C>A (n.821+17C>A) | dbSNP gnomAD v4 |
17 | g.42538772C= | CA2260528019 | NAGLU | c.764+17C= (n.764+17C=) c.366+17C= c.359+17C= (n.359+17C=) c.22+17C= (n.22+17C=) c.821+17C= (n.821+17C=) | |
17 | g.42538772C>T | CA8576854 | NAGLU | c.764+17C>T (n.764+17C>T) c.366+17C>T c.359+17C>T (n.359+17C>T) c.22+17C>T (n.22+17C>T) c.821+17C>T (n.821+17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538773C>G | CA2576295400 | NAGLU | c.764+18C>G (n.764+18C>G) c.366+18C>G c.359+18C>G (n.359+18C>G) c.22+18C>G (n.22+18C>G) c.821+18C>G (n.821+18C>G) | |
17 | g.42538774C>A | CA290773539 | NAGLU | c.764+19C>A (n.764+19C>A) c.366+19C>A c.359+19C>A (n.359+19C>A) c.22+19C>A (n.22+19C>A) c.821+19C>A (n.821+19C>A) | ClinVar dbSNP gnomAD v4 |
17 | g.42538774C= | CA2260528020 | NAGLU | c.764+19C= (n.764+19C=) c.366+19C= c.359+19C= (n.359+19C=) c.22+19C= (n.22+19C=) c.821+19C= (n.821+19C=) | |
17 | g.42538774C>G | CA8576855 | NAGLU | c.764+19C>G (n.764+19C>G) c.366+19C>G c.359+19C>G (n.359+19C>G) c.22+19C>G (n.22+19C>G) c.821+19C>G (n.821+19C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538774C>T | CA2573153970 | NAGLU | c.764+19C>T (n.764+19C>T) c.366+19C>T c.359+19C>T (n.359+19C>T) c.22+19C>T (n.22+19C>T) c.821+19C>T (n.821+19C>T) | ClinVar dbSNP gnomAD v4 |
17 | g.42538775C>A | CA2740095355 | NAGLU | c.764+20C>A (n.764+20C>A) c.366+20C>A c.359+20C>A (n.359+20C>A) c.22+20C>A (n.22+20C>A) c.821+20C>A (n.821+20C>A) | ClinVar |
17 | g.42538775C>T | CA2576295401 | NAGLU | c.764+20C>T (n.764+20C>T) c.366+20C>T c.359+20C>T (n.359+20C>T) c.22+20C>T (n.22+20C>T) c.821+20C>T (n.821+20C>T) | gnomAD v4 |
17 | g.42538777C= | CA2260528021 | NAGLU | c.764+22C= (n.764+22C=) c.366+22C= c.359+22C= (n.359+22C=) c.22+22C= (n.22+22C=) c.821+22C= (n.821+22C=) | |
17 | g.42538777C>T | CA772111666 | NAGLU | c.764+22C>T (n.764+22C>T) c.366+22C>T c.359+22C>T (n.359+22C>T) c.22+22C>T (n.22+22C>T) c.821+22C>T (n.821+22C>T) | dbSNP gnomAD v4 |
17 | g.42538778del | CA2576295402 | NAGLU | c.764+23del (n.764+23del) c.366+23del c.359+23del (n.359+23del) c.22+23del (n.22+23del) c.821+23del (n.821+23del) | |
17 | g.42538778C= | CA2260528022 | NAGLU | c.764+23C= (n.764+23C=) c.366+23C= c.359+23C= (n.359+23C=) c.22+23C= (n.22+23C=) c.821+23C= (n.821+23C=) | |
17 | g.42538778C>G | CA626218583 | NAGLU | c.764+23C>G (n.764+23C>G) c.366+23C>G c.359+23C>G (n.359+23C>G) c.22+23C>G (n.22+23C>G) c.821+23C>G (n.821+23C>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42538778C>T | CA2637969905 | NAGLU | c.764+23C>T (n.764+23C>T) c.366+23C>T c.359+23C>T (n.359+23C>T) c.22+23C>T (n.22+23C>T) c.821+23C>T (n.821+23C>T) | gnomAD v4 |
17 | g.42538779A= | CA2260528023 | NAGLU | c.764+24A= (n.764+24A=) c.366+24A= c.359+24A= (n.359+24A=) c.22+24A= (n.22+24A=) c.821+24A= (n.821+24A=) | |
17 | g.42538779A>G | CA8576856 | NAGLU | c.764+24A>G (n.764+24A>G) c.366+24A>G c.359+24A>G (n.359+24A>G) c.22+24A>G (n.22+24A>G) c.821+24A>G (n.821+24A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538780C>A | CA2637969906 | NAGLU | c.764+25C>A (n.764+25C>A) c.366+25C>A c.359+25C>A (n.359+25C>A) c.22+25C>A (n.22+25C>A) c.821+25C>A (n.821+25C>A) | gnomAD v4 |
17 | g.42538780C>G | CA2576295403 | NAGLU | c.764+25C>G (n.764+25C>G) c.366+25C>G c.359+25C>G (n.359+25C>G) c.22+25C>G (n.22+25C>G) c.821+25C>G (n.821+25C>G) | gnomAD v4 |
17 | g.42538781T>A | CA2637969907 | NAGLU | c.764+26T>A (n.764+26T>A) c.366+26T>A c.359+26T>A (n.359+26T>A) c.22+26T>A (n.22+26T>A) c.821+26T>A (n.821+26T>A) | gnomAD v4 |
17 | g.42538784G>A | CA626218584 | NAGLU | c.764+29G>A (n.764+29G>A) c.366+29G>A c.359+29G>A (n.359+29G>A) c.22+29G>A (n.22+29G>A) c.821+29G>A (n.821+29G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42538784G= | CA2260528024 | NAGLU | c.764+29G= (n.764+29G=) c.366+29G= c.359+29G= (n.359+29G=) c.22+29G= (n.22+29G=) c.821+29G= (n.821+29G=) |