Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |