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