Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.42543692C>A | CA399604475 | NAGLU | c.1686C>A (p.Asp562Glu) c.1024C>A (n.1024C>A) c.855C>A (p.Asp285Glu) c.687C>A (p.Asp229Glu) c.1743C>A (p.Asp581Glu) | |
17 | g.42543692C>G | CA399604476 | NAGLU | c.1686C>G (p.Asp562Glu) c.1024C>G (n.1024C>G) c.855C>G (p.Asp285Glu) c.687C>G (p.Asp229Glu) c.1743C>G (p.Asp581Glu) | |
17 | g.42543692C>T | CA500217201 | NAGLU | c.1686C>T (p.Asp562=) c.1024C>T (n.1024C>T) c.855C>T (p.Asp285=) c.687C>T (p.Asp229=) c.1743C>T (p.Asp581=) | ClinVar dbSNP gnomAD v4 |
17 | g.42543693C>A | CA399604478 | NAGLU | c.1687C>A (p.Leu563Ile) c.1025C>A (n.1025C>A) c.856C>A (p.Leu286Ile) c.688C>A (p.Leu230Ile) c.1744C>A (p.Leu582Ile) | gnomAD v4 |
17 | g.42543693C>G | CA399604480 | NAGLU | c.1687C>G (p.Leu563Val) c.1025C>G (n.1025C>G) c.856C>G (p.Leu286Val) c.688C>G (p.Leu230Val) c.1744C>G (p.Leu582Val) | gnomAD v4 |
17 | g.42543693C>T | CA399604482 | NAGLU | c.1687C>T (p.Leu563Phe) c.1025C>T (n.1025C>T) c.856C>T (p.Leu286Phe) c.688C>T (p.Leu230Phe) c.1744C>T (p.Leu582Phe) | |
17 | g.42543696_42543699del | CA2740095369 | NAGLU | c.1690_1693del (p.Thr564GlyfsTer20) c.1028_1031del (n.1028_1031del) c.859_862del (p.Thr287GlyfsTer20) c.691_694del (p.Thr231GlyfsTer20) c.1747_1750del (p.Thr583GlyfsTer20) | ClinVar |
17 | g.42543694T>A | CA8577078 | NAGLU | c.1688T>A (p.Leu563His) c.1026T>A (n.1026T>A) c.857T>A (p.Leu286His) c.689T>A (p.Leu230His) c.1745T>A (p.Leu582His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42543694T>C | CA399604484 | NAGLU | c.1688T>C (p.Leu563Pro) c.1026T>C (n.1026T>C) c.857T>C (p.Leu286Pro) c.689T>C (p.Leu230Pro) c.1745T>C (p.Leu582Pro) | |
17 | g.42543694T>G | CA399604486 | NAGLU | c.1688T>G (p.Leu563Arg) c.1026T>G (n.1026T>G) c.857T>G (p.Leu286Arg) c.689T>G (p.Leu230Arg) c.1745T>G (p.Leu582Arg) | |
17 | g.42543694T= | CA2260530412 | NAGLU | c.1688T= (p.Leu563=) c.1026T= (n.1026T=) c.857T= (p.Leu286=) c.689T= (p.Leu230=) c.1745T= (p.Leu582=) | |
17 | g.42543695C>A | CA500217212 | NAGLU | c.1689C>A (p.Leu563=) c.1027C>A (n.1027C>A) c.858C>A (p.Leu286=) c.690C>A (p.Leu230=) c.1746C>A (p.Leu582=) | dbSNP |
17 | g.42543695C= | CA2260530413 | NAGLU | c.1689C= (p.Leu563=) c.1027C= (n.1027C=) c.858C= (p.Leu286=) c.690C= (p.Leu230=) c.1746C= (p.Leu582=) | |
17 | g.42543695C>G | CA500217208 | NAGLU | c.1689C>G (p.Leu563=) c.1027C>G (n.1027C>G) c.858C>G (p.Leu286=) c.690C>G (p.Leu230=) c.1746C>G (p.Leu582=) | |
17 | g.42543695C>T | CA500217209 | NAGLU | c.1689C>T (p.Leu563=) c.1027C>T (n.1027C>T) c.858C>T (p.Leu286=) c.690C>T (p.Leu230=) c.1746C>T (p.Leu582=) | |
17 | g.42543696A= | CA2260530414 | NAGLU | c.1690A= (p.Thr564=) c.1028A= (n.1028A=) c.859A= (p.Thr287=) c.691A= (p.Thr231=) c.1747A= (p.Thr583=) | |
17 | g.42543696A>C | CA399604488 | NAGLU | c.1690A>C (p.Thr564Pro) c.1028A>C (n.1028A>C) c.859A>C (p.Thr287Pro) c.691A>C (p.Thr231Pro) c.1747A>C (p.Thr583Pro) | |
17 | g.42543696A>G | CA399604490 | NAGLU | c.1690A>G (p.Thr564Ala) c.1028A>G (n.1028A>G) c.859A>G (p.Thr287Ala) c.691A>G (p.Thr231Ala) c.1747A>G (p.Thr583Ala) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42543696A>T | CA399604492 | NAGLU | c.1690A>T (p.Thr564Ser) c.1028A>T (n.1028A>T) c.859A>T (p.Thr287Ser) c.691A>T (p.Thr231Ser) c.1747A>T (p.Thr583Ser) | |
17 | g.42543697C>A | CA399604496 | NAGLU | c.1691C>A (p.Thr564Asn) c.1029C>A (n.1029C>A) c.860C>A (p.Thr287Asn) c.692C>A (p.Thr231Asn) c.1748C>A (p.Thr583Asn) | |
17 | g.42543697C>G | CA399604498 | NAGLU | c.1691C>G (p.Thr564Ser) c.1029C>G (n.1029C>G) c.860C>G (p.Thr287Ser) c.692C>G (p.Thr231Ser) c.1748C>G (p.Thr583Ser) | |
17 | g.42543697C>T | CA399604494 | NAGLU | c.1691C>T (p.Thr564Ile) c.1029C>T (n.1029C>T) c.860C>T (p.Thr287Ile) c.692C>T (p.Thr231Ile) c.1748C>T (p.Thr583Ile) | gnomAD v4 COSMIC |
17 | g.42543697_42543700dup | CA2695225866 | NAGLU | c.1691_1694dup (p.Gln566SerfsTer13) c.1029_1032dup (n.1029_1032dup) c.860_863dup (p.Gln289SerfsTer13) c.692_695dup (p.Gln233SerfsTer13) c.1748_1751dup (p.Gln585SerfsTer13) | |
17 | g.42543698T>A | CA500217220 | NAGLU | c.1692T>A (p.Thr564=) c.1030T>A (n.1030T>A) c.861T>A (p.Thr287=) c.693T>A (p.Thr231=) c.1749T>A (p.Thr583=) | |
17 | g.42543698T>C | CA500217219 | NAGLU | c.1692T>C (p.Thr564=) c.1030T>C (n.1030T>C) c.861T>C (p.Thr287=) c.693T>C (p.Thr231=) c.1749T>C (p.Thr583=) | ClinVar |
17 | g.42543698T>G | CA500217217 | NAGLU | c.1692T>G (p.Thr564=) c.1030T>G (n.1030T>G) c.861T>G (p.Thr287=) c.693T>G (p.Thr231=) c.1749T>G (p.Thr583=) | |
17 | g.42543699C>A | CA500217225 | NAGLU | c.1693C>A (p.Arg565=) c.1031C>A (n.1031C>A) c.862C>A (p.Arg288=) c.694C>A (p.Arg232=) c.1750C>A (p.Arg584=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42543699C= | CA2260530415 | NAGLU | c.1693C= (p.Arg565=) c.1031C= (n.1031C=) c.862C= (p.Arg288=) c.694C= (p.Arg232=) c.1750C= (p.Arg584=) | |
17 | g.42543699C>G | CA399604499 | NAGLU | c.1693C>G (p.Arg565Gly) c.1031C>G (n.1031C>G) c.862C>G (p.Arg288Gly) c.694C>G (p.Arg232Gly) c.1750C>G (p.Arg584Gly) | |
17 | g.42543699C>T | CA115050 | NAGLU | c.1693C>T (p.Arg565Trp) c.1031C>T (n.1031C>T) c.862C>T (p.Arg288Trp) c.694C>T (p.Arg232Trp) c.1750C>T (p.Arg584Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543700G>A | CA129472 | NAGLU | c.1694G>A (p.Arg565Gln) c.1032G>A (n.1032G>A) c.863G>A (p.Arg288Gln) c.695G>A (p.Arg232Gln) c.1751G>A (p.Arg584Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543700G>C | CA115051 | NAGLU | c.1694G>C (p.Arg565Pro) c.1032G>C (n.1032G>C) c.863G>C (p.Arg288Pro) c.695G>C (p.Arg232Pro) c.1751G>C (p.Arg584Pro) | ClinVar dbSNP gnomAD v4 |
17 | g.42543700G= | CA2260530416 | NAGLU | c.1694G= (p.Arg565=) c.1032G= (n.1032G=) c.863G= (p.Arg288=) c.695G= (p.Arg232=) c.1751G= (p.Arg584=) | |
17 | g.42543700G>T | CA8577079 | NAGLU | c.1694G>T (p.Arg565Leu) c.1032G>T (n.1032G>T) c.863G>T (p.Arg288Leu) c.695G>T (p.Arg232Leu) c.1751G>T (p.Arg584Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.42543701G>A | CA500217229 | NAGLU | c.1695G>A (p.Arg565=) c.1033G>A (n.1033G>A) c.864G>A (p.Arg288=) c.696G>A (p.Arg232=) c.1752G>A (p.Arg584=) | gnomAD v4 |
17 | g.42543701G>C | CA500217230 | NAGLU | c.1695G>C (p.Arg565=) c.1033G>C (n.1033G>C) c.864G>C (p.Arg288=) c.696G>C (p.Arg232=) c.1752G>C (p.Arg584=) | gnomAD v4 |
17 | g.42543701G>T | CA500217232 | NAGLU | c.1695G>T (p.Arg565=) c.1033G>T (n.1033G>T) c.864G>T (p.Arg288=) c.696G>T (p.Arg232=) c.1752G>T (p.Arg584=) | ClinVar gnomAD v4 |
17 | g.42543702C>A | CA399604505 | NAGLU | c.1696C>A (p.Gln566Lys) c.1034C>A (n.1034C>A) c.865C>A (p.Gln289Lys) c.697C>A (p.Gln233Lys) c.1753C>A (p.Gln585Lys) | |
17 | g.42543702C>G | CA399604507 | NAGLU | c.1696C>G (p.Gln566Glu) c.1034C>G (n.1034C>G) c.865C>G (p.Gln289Glu) c.697C>G (p.Gln233Glu) c.1753C>G (p.Gln585Glu) | |
17 | g.42543702C>T | CA399604508 | NAGLU | c.1696C>T (p.Gln566Ter) c.1034C>T (n.1034C>T) c.865C>T (p.Gln289Ter) c.697C>T (p.Gln233Ter) c.1753C>T (p.Gln585Ter) | ClinVar |
17 | g.42543703A>C | CA399604511 | NAGLU | c.1697A>C (p.Gln566Pro) c.1035A>C (n.1035A>C) c.866A>C (p.Gln289Pro) c.698A>C (p.Gln233Pro) c.1754A>C (p.Gln585Pro) | |
17 | g.42543703A>G | CA399604512 | NAGLU | c.1697A>G (p.Gln566Arg) c.1035A>G (n.1035A>G) c.866A>G (p.Gln289Arg) c.698A>G (p.Gln233Arg) c.1754A>G (p.Gln585Arg) | |
17 | g.42543703A>T | CA399604514 | NAGLU | c.1697A>T (p.Gln566Leu) c.1035A>T (n.1035A>T) c.866A>T (p.Gln289Leu) c.698A>T (p.Gln233Leu) c.1754A>T (p.Gln585Leu) | |
17 | g.42543704G>A | CA500217237 | NAGLU | c.1698G>A (p.Gln566=) c.1036G>A (n.1036G>A) c.867G>A (p.Gln289=) c.699G>A (p.Gln233=) c.1755G>A (p.Gln585=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543704G>C | CA399604516 | NAGLU | c.1698G>C (p.Gln566His) c.1036G>C (n.1036G>C) c.867G>C (p.Gln289His) c.699G>C (p.Gln233His) c.1755G>C (p.Gln585His) | |
17 | g.42543704G= | CA2260530417 | NAGLU | c.1698G= (p.Gln566=) c.1036G= (n.1036G=) c.867G= (p.Gln289=) c.699G= (p.Gln233=) c.1755G= (p.Gln585=) | |
17 | g.42543704G>T | CA399604518 | NAGLU | c.1698G>T (p.Gln566His) c.1036G>T (n.1036G>T) c.867G>T (p.Gln289His) c.699G>T (p.Gln233His) c.1755G>T (p.Gln585His) | |
17 | g.42543705G>A | CA399604520 | NAGLU | c.1699G>A (p.Ala567Thr) c.1037G>A (n.1037G>A) c.868G>A (p.Ala290Thr) c.700G>A (p.Ala234Thr) c.1756G>A (p.Ala586Thr) | gnomAD v4 |
17 | g.42543705G>C | CA399604521 | NAGLU | c.1699G>C (p.Ala567Pro) c.1037G>C (n.1037G>C) c.868G>C (p.Ala290Pro) c.700G>C (p.Ala234Pro) c.1756G>C (p.Ala586Pro) | |
17 | g.42543705G= | CA2260530418 | NAGLU | c.1699G= (p.Ala567=) c.1037G= (n.1037G=) c.868G= (p.Ala290=) c.700G= (p.Ala234=) c.1756G= (p.Ala586=) | |
17 | g.42543705G>T | CA399604522 | NAGLU | c.1699G>T (p.Ala567Ser) c.1037G>T (n.1037G>T) c.868G>T (p.Ala290Ser) c.700G>T (p.Ala234Ser) c.1756G>T (p.Ala586Ser) | ClinVar dbSNP gnomAD v4 |
17 | g.42543706C>A | CA399604528 | NAGLU | c.1700C>A (p.Ala567Glu) c.1038C>A (n.1038C>A) c.869C>A (p.Ala290Glu) c.701C>A (p.Ala234Glu) c.1757C>A (p.Ala586Glu) | |
17 | g.42543706C= | CA2260530419 | NAGLU | c.1700C= (p.Ala567=) c.1038C= (n.1038C=) c.869C= (p.Ala290=) c.701C= (p.Ala234=) c.1757C= (p.Ala586=) | |
17 | g.42543706C>G | CA399604527 | NAGLU | c.1700C>G (p.Ala567Gly) c.1038C>G (n.1038C>G) c.869C>G (p.Ala290Gly) c.701C>G (p.Ala234Gly) c.1757C>G (p.Ala586Gly) | |
17 | g.42543706C>T | CA399604525 | NAGLU | c.1700C>T (p.Ala567Val) c.1038C>T (n.1038C>T) c.869C>T (p.Ala290Val) c.701C>T (p.Ala234Val) c.1757C>T (p.Ala586Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543707A= | CA2260530420 | NAGLU | c.1701A= (p.Ala567=) c.1039A= (n.1039A=) c.870A= (p.Ala290=) c.702A= (p.Ala234=) c.1758A= (p.Ala586=) | |
17 | g.42543707A>C | CA500217246 | NAGLU | c.1701A>C (p.Ala567=) c.1039A>C (n.1039A>C) c.870A>C (p.Ala290=) c.702A>C (p.Ala234=) c.1758A>C (p.Ala586=) | |
17 | g.42543707A>G | CA8577080 | NAGLU | c.1701A>G (p.Ala567=) c.1039A>G (n.1039A>G) c.870A>G (p.Ala290=) c.702A>G (p.Ala234=) c.1758A>G (p.Ala586=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543707A>T | CA500217245 | NAGLU | c.1701A>T (p.Ala567=) c.1039A>T (n.1039A>T) c.870A>T (p.Ala290=) c.702A>T (p.Ala234=) c.1758A>T (p.Ala586=) | |
17 | g.42543708G>A | CA399604530 | NAGLU | c.1702G>A (p.Val568Met) c.1040G>A (n.1040G>A) c.871G>A (p.Val291Met) c.703G>A (p.Val235Met) c.1759G>A (p.Val587Met) | |
17 | g.42543708G>C | CA399604531 | NAGLU | c.1702G>C (p.Val568Leu) c.1040G>C (n.1040G>C) c.871G>C (p.Val291Leu) c.703G>C (p.Val235Leu) c.1759G>C (p.Val587Leu) | |
17 | g.42543708G>T | CA399604533 | NAGLU | c.1702G>T (p.Val568Leu) c.1040G>T (n.1040G>T) c.871G>T (p.Val291Leu) c.703G>T (p.Val235Leu) c.1759G>T (p.Val587Leu) | |
17 | g.42543709T>A | CA399604535 | NAGLU | c.1703T>A (p.Val568Glu) c.1041T>A (n.1041T>A) c.872T>A (p.Val291Glu) c.704T>A (p.Val235Glu) c.1760T>A (p.Val587Glu) | |
17 | g.42543709T>C | CA399604537 | NAGLU | c.1703T>C (p.Val568Ala) c.1041T>C (n.1041T>C) c.872T>C (p.Val291Ala) c.704T>C (p.Val235Ala) c.1760T>C (p.Val587Ala) | gnomAD v4 |
17 | g.42543709T>G | CA8577081 | NAGLU | c.1703T>G (p.Val568Gly) c.1041T>G (n.1041T>G) c.872T>G (p.Val291Gly) c.704T>G (p.Val235Gly) c.1760T>G (p.Val587Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543709T= | CA2260530421 | NAGLU | c.1703T= (p.Val568=) c.1041T= (n.1041T=) c.872T= (p.Val291=) c.704T= (p.Val235=) c.1760T= (p.Val587=) | |
17 | g.42543710G>A | CA500217184 | NAGLU | c.1704G>A (p.Val568=) c.1042G>A (n.1042G>A) c.873G>A (p.Val291=) c.705G>A (p.Val235=) c.1761G>A (p.Val587=) | ClinVar gnomAD v4 |
17 | g.42543710G>C | CA500217185 | NAGLU | c.1704G>C (p.Val568=) c.1042G>C (n.1042G>C) c.873G>C (p.Val291=) c.705G>C (p.Val235=) c.1761G>C (p.Val587=) | |
17 | g.42543710G>T | CA500217182 | NAGLU | c.1704G>T (p.Val568=) c.1042G>T (n.1042G>T) c.873G>T (p.Val291=) c.705G>T (p.Val235=) c.1761G>T (p.Val587=) | |
17 | g.42543711C>A | CA399604538 | NAGLU | c.1705C>A (p.Gln569Lys) c.1043C>A (n.1043C>A) c.874C>A (p.Gln292Lys) c.706C>A (p.Gln236Lys) c.1762C>A (p.Gln588Lys) | |
17 | g.42543711C= | CA2260530422 | NAGLU | c.1705C= (p.Gln569=) c.1043C= (n.1043C=) c.874C= (p.Gln292=) c.706C= (p.Gln236=) c.1762C= (p.Gln588=) | |
17 | g.42543711C>G | CA399604539 | NAGLU | c.1705C>G (p.Gln569Glu) c.1043C>G (n.1043C>G) c.874C>G (p.Gln292Glu) c.706C>G (p.Gln236Glu) c.1762C>G (p.Gln588Glu) | |
17 | g.42543711C>T | CA399604541 | NAGLU | c.1705C>T (p.Gln569Ter) c.1043C>T (n.1043C>T) c.874C>T (p.Gln292Ter) c.706C>T (p.Gln236Ter) c.1762C>T (p.Gln588Ter) | ClinVar dbSNP gnomAD v4 |
17 | g.42543712A= | CA2260530423 | NAGLU | c.1706A= (p.Gln569=) c.1044A= (n.1044A=) c.875A= (p.Gln292=) c.707A= (p.Gln236=) c.1763A= (p.Gln588=) | |
17 | g.42543712A>C | CA399604543 | NAGLU | c.1706A>C (p.Gln569Pro) c.1044A>C (n.1044A>C) c.875A>C (p.Gln292Pro) c.707A>C (p.Gln236Pro) c.1763A>C (p.Gln588Pro) | |
17 | g.42543712A>G | CA399604544 | NAGLU | c.1706A>G (p.Gln569Arg) c.1044A>G (n.1044A>G) c.875A>G (p.Gln292Arg) c.707A>G (p.Gln236Arg) c.1763A>G (p.Gln588Arg) | dbSNP gnomAD v4 |
17 | g.42543712A>T | CA399604545 | NAGLU | c.1706A>T (p.Gln569Leu) c.1044A>T (n.1044A>T) c.875A>T (p.Gln292Leu) c.707A>T (p.Gln236Leu) c.1763A>T (p.Gln588Leu) | |
17 | g.42543713G>A | CA500217190 | NAGLU | c.1707G>A (p.Gln569=) c.1045G>A (n.1045G>A) c.876G>A (p.Gln292=) c.708G>A (p.Gln236=) c.1764G>A (p.Gln588=) | ClinVar dbSNP |
17 | g.42543713G>C | CA399604547 | NAGLU | c.1707G>C (p.Gln569His) c.1045G>C (n.1045G>C) c.876G>C (p.Gln292His) c.708G>C (p.Gln236His) c.1764G>C (p.Gln588His) | |
17 | g.42543713G= | CA2260530424 | NAGLU | c.1707G= (p.Gln569=) c.1045G= (n.1045G=) c.876G= (p.Gln292=) c.708G= (p.Gln236=) c.1764G= (p.Gln588=) | |
17 | g.42543713G>T | CA399604549 | NAGLU | c.1707G>T (p.Gln569His) c.1045G>T (n.1045G>T) c.876G>T (p.Gln292His) c.708G>T (p.Gln236His) c.1764G>T (p.Gln588His) | gnomAD v4 |
17 | g.42543714G>A | CA399604551 | NAGLU | c.1708G>A (p.Glu570Lys) c.1046G>A (n.1046G>A) c.877G>A (p.Glu293Lys) c.709G>A (p.Glu237Lys) c.1765G>A (p.Glu589Lys) | |
17 | g.42543714G>C | CA399604552 | NAGLU | c.1708G>C (p.Glu570Gln) c.1046G>C (n.1046G>C) c.877G>C (p.Glu293Gln) c.709G>C (p.Glu237Gln) c.1765G>C (p.Glu589Gln) | |
17 | g.42543714G= | CA2260530425 | NAGLU | c.1708G= (p.Glu570=) c.1046G= (n.1046G=) c.877G= (p.Glu293=) c.709G= (p.Glu237=) c.1765G= (p.Glu589=) | |
17 | g.42543714G>T | CA399604554 | NAGLU | c.1708G>T (p.Glu570Ter) c.1046G>T (n.1046G>T) c.877G>T (p.Glu293Ter) c.709G>T (p.Glu237Ter) c.1765G>T (p.Glu589Ter) | ClinVar dbSNP |
17 | g.42543715A= | CA2260530426 | NAGLU | c.1709A= (p.Glu570=) c.1047A= (n.1047A=) c.878A= (p.Glu293=) c.710A= (p.Glu237=) c.1766A= (p.Glu589=) | |
17 | g.42543715A>C | CA290780974 | NAGLU | c.1709A>C (p.Glu570Ala) c.1047A>C (n.1047A>C) c.878A>C (p.Glu293Ala) c.710A>C (p.Glu237Ala) c.1766A>C (p.Glu589Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543715A>G | CA399604557 | NAGLU | c.1709A>G (p.Glu570Gly) c.1047A>G (n.1047A>G) c.878A>G (p.Glu293Gly) c.710A>G (p.Glu237Gly) c.1766A>G (p.Glu589Gly) | |
17 | g.42543715A>T | CA399604558 | NAGLU | c.1709A>T (p.Glu570Val) c.1047A>T (n.1047A>T) c.878A>T (p.Glu293Val) c.710A>T (p.Glu237Val) c.1766A>T (p.Glu589Val) | |
17 | g.42543716G>A | CA500217198 | NAGLU | c.1710G>A (p.Glu570=) c.1048G>A (n.1048G>A) c.879G>A (p.Glu293=) c.711G>A (p.Glu237=) c.1767G>A (p.Glu589=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42543716G>C | CA399604561 | NAGLU | c.1710G>C (p.Glu570Asp) c.1048G>C (n.1048G>C) c.879G>C (p.Glu293Asp) c.711G>C (p.Glu237Asp) c.1767G>C (p.Glu589Asp) | |
17 | g.42543716G= | CA2260530427 | NAGLU | c.1710G= (p.Glu570=) c.1048G= (n.1048G=) c.879G= (p.Glu293=) c.711G= (p.Glu237=) c.1767G= (p.Glu589=) | |
17 | g.42543716G>T | CA399604563 | NAGLU | c.1710G>T (p.Glu570Asp) c.1048G>T (n.1048G>T) c.879G>T (p.Glu293Asp) c.711G>T (p.Glu237Asp) c.1767G>T (p.Glu589Asp) | ClinVar dbSNP |
17 | g.42543717C>A | CA399604565 | NAGLU | c.1711C>A (p.Leu571Met) c.1049C>A (n.1049C>A) c.880C>A (p.Leu294Met) c.712C>A (p.Leu238Met) c.1768C>A (p.Leu590Met) | |
17 | g.42543717C>G | CA399604566 | NAGLU | c.1711C>G (p.Leu571Val) c.1049C>G (n.1049C>G) c.880C>G (p.Leu294Val) c.712C>G (p.Leu238Val) c.1768C>G (p.Leu590Val) | |
17 | g.42543717C>T | CA500217204 | NAGLU | c.1711C>T (p.Leu571=) c.1049C>T (n.1049C>T) c.880C>T (p.Leu294=) c.712C>T (p.Leu238=) c.1768C>T (p.Leu590=) | ClinVar gnomAD v4 |
17 | g.42543718T>A | CA399604569 | NAGLU | c.1712T>A (p.Leu571Gln) c.1050T>A (n.1050T>A) c.881T>A (p.Leu294Gln) c.713T>A (p.Leu238Gln) c.1769T>A (p.Leu590Gln) | |
17 | g.42543718T>C | CA290780978 | NAGLU | c.1712T>C (p.Leu571Pro) c.1050T>C (n.1050T>C) c.881T>C (p.Leu294Pro) c.713T>C (p.Leu238Pro) c.1769T>C (p.Leu590Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42543718T>G | CA399604571 | NAGLU | c.1712T>G (p.Leu571Arg) c.1050T>G (n.1050T>G) c.881T>G (p.Leu294Arg) c.713T>G (p.Leu238Arg) c.1769T>G (p.Leu590Arg) | |
17 | g.42543718T= | CA2260530428 | NAGLU | c.1712T= (p.Leu571=) c.1050T= (n.1050T=) c.881T= (p.Leu294=) c.713T= (p.Leu238=) c.1769T= (p.Leu590=) | |
17 | g.42543719G>A | CA500217213 | NAGLU | c.1713G>A (p.Leu571=) c.1051G>A (n.1051G>A) c.882G>A (p.Leu294=) c.714G>A (p.Leu238=) c.1770G>A (p.Leu590=) | |
17 | g.42543719G>C | CA500217214 | NAGLU | c.1713G>C (p.Leu571=) c.1051G>C (n.1051G>C) c.882G>C (p.Leu294=) c.714G>C (p.Leu238=) c.1770G>C (p.Leu590=) | |
17 | g.42543719G>T | CA500217211 | NAGLU | c.1713G>T (p.Leu571=) c.1051G>T (n.1051G>T) c.882G>T (p.Leu294=) c.714G>T (p.Leu238=) c.1770G>T (p.Leu590=) | |
17 | g.42543720G>A | CA399604574 | NAGLU | c.1714G>A (p.Val572Ile) c.1052G>A (n.1052G>A) c.883G>A (p.Val295Ile) c.715G>A (p.Val239Ile) c.1771G>A (p.Val591Ile) | gnomAD v4 |
17 | g.42543720G>C | CA399604578 | NAGLU | c.1714G>C (p.Val572Leu) c.1052G>C (n.1052G>C) c.883G>C (p.Val295Leu) c.715G>C (p.Val239Leu) c.1771G>C (p.Val591Leu) | |
17 | g.42543720G>T | CA399604576 | NAGLU | c.1714G>T (p.Val572Phe) c.1052G>T (n.1052G>T) c.883G>T (p.Val295Phe) c.715G>T (p.Val239Phe) c.1771G>T (p.Val591Phe) | gnomAD v4 |
17 | g.42543721T>A | CA399604579 | NAGLU | c.1715T>A (p.Val572Asp) c.1053T>A (n.1053T>A) c.884T>A (p.Val295Asp) c.716T>A (p.Val239Asp) c.1772T>A (p.Val591Asp) | |
17 | g.42543721T>C | CA399604580 | NAGLU | c.1715T>C (p.Val572Ala) c.1053T>C (n.1053T>C) c.884T>C (p.Val295Ala) c.716T>C (p.Val239Ala) c.1772T>C (p.Val591Ala) | |
17 | g.42543721T>G | CA399604582 | NAGLU | c.1715T>G (p.Val572Gly) c.1053T>G (n.1053T>G) c.884T>G (p.Val295Gly) c.716T>G (p.Val239Gly) c.1772T>G (p.Val591Gly) | dbSNP |
17 | g.42543721T= | CA2260530429 | NAGLU | c.1715T= (p.Val572=) c.1053T= (n.1053T=) c.884T= (p.Val295=) c.716T= (p.Val239=) c.1772T= (p.Val591=) | |
17 | g.42543722C>A | CA500217224 | NAGLU | c.1716C>A (p.Val572=) c.1054C>A (n.1054C>A) c.885C>A (p.Val295=) c.717C>A (p.Val239=) c.1773C>A (p.Val591=) | gnomAD v4 |
17 | g.42543722C>G | CA500217222 | NAGLU | c.1716C>G (p.Val572=) c.1054C>G (n.1054C>G) c.885C>G (p.Val295=) c.717C>G (p.Val239=) c.1773C>G (p.Val591=) | |
17 | g.42543722C>T | CA500217223 | NAGLU | c.1716C>T (p.Val572=) c.1054C>T (n.1054C>T) c.885C>T (p.Val295=) c.717C>T (p.Val239=) c.1773C>T (p.Val591=) | |
17 | g.42543723A= | CA2260530430 | NAGLU | c.1717A= (p.Ser573=) c.1055A= (n.1055A=) c.886A= (p.Ser296=) c.718A= (p.Ser240=) c.1774A= (p.Ser592=) | |
17 | g.42543723A>C | CA399604584 | NAGLU | c.1717A>C (p.Ser573Arg) c.1055A>C (n.1055A>C) c.886A>C (p.Ser296Arg) c.718A>C (p.Ser240Arg) c.1774A>C (p.Ser592Arg) | |
17 | g.42543723A>G | CA8577082 | NAGLU | c.1717A>G (p.Ser573Gly) c.1055A>G (n.1055A>G) c.886A>G (p.Ser296Gly) c.718A>G (p.Ser240Gly) c.1774A>G (p.Ser592Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543723A>T | CA399604587 | NAGLU | c.1717A>T (p.Ser573Cys) c.1055A>T (n.1055A>T) c.886A>T (p.Ser296Cys) c.718A>T (p.Ser240Cys) c.1774A>T (p.Ser592Cys) | |
17 | g.42543724G>A | CA399604589 | NAGLU | c.1718G>A (p.Ser573Asn) c.1056G>A (n.1056G>A) c.887G>A (p.Ser296Asn) c.719G>A (p.Ser240Asn) c.1775G>A (p.Ser592Asn) | |
17 | g.42543724G>C | CA399604590 | NAGLU | c.1718G>C (p.Ser573Thr) c.1056G>C (n.1056G>C) c.887G>C (p.Ser296Thr) c.719G>C (p.Ser240Thr) c.1775G>C (p.Ser592Thr) | |
17 | g.42543724G= | CA2260530431 | NAGLU | c.1718G= (p.Ser573=) c.1056G= (n.1056G=) c.887G= (p.Ser296=) c.719G= (p.Ser240=) c.1775G= (p.Ser592=) | |
17 | g.42543724G>T | CA399604591 | NAGLU | c.1718G>T (p.Ser573Ile) c.1056G>T (n.1056G>T) c.887G>T (p.Ser296Ile) c.719G>T (p.Ser240Ile) c.1775G>T (p.Ser592Ile) | dbSNP gnomAD v4 |
17 | g.42543725C>A | CA399604593 | NAGLU | c.1719C>A (p.Ser573Arg) c.1057C>A (n.1057C>A) c.888C>A (p.Ser296Arg) c.720C>A (p.Ser240Arg) c.1776C>A (p.Ser592Arg) | dbSNP gnomAD v2 |
17 | g.42543725C= | CA2260530432 | NAGLU | c.1719C= (p.Ser573=) c.1057C= (n.1057C=) c.888C= (p.Ser296=) c.720C= (p.Ser240=) c.1776C= (p.Ser592=) | |
17 | g.42543725C>G | CA399604595 | NAGLU | c.1719C>G (p.Ser573Arg) c.1057C>G (n.1057C>G) c.888C>G (p.Ser296Arg) c.720C>G (p.Ser240Arg) c.1776C>G (p.Ser592Arg) | |
17 | g.42543725C>T | CA500217231 | NAGLU | c.1719C>T (p.Ser573=) c.1057C>T (n.1057C>T) c.888C>T (p.Ser296=) c.720C>T (p.Ser240=) c.1776C>T (p.Ser592=) | ClinVar dbSNP COSMIC |
17 | g.42543726T>A | CA399604598 | NAGLU | c.1720T>A (p.Leu574Met) c.1058T>A (n.1058T>A) c.889T>A (p.Leu297Met) c.721T>A (p.Leu241Met) c.1777T>A (p.Leu593Met) | |
17 | g.42543726T>C | CA500217233 | NAGLU | c.1720T>C (p.Leu574=) c.1058T>C (n.1058T>C) c.889T>C (p.Leu297=) c.721T>C (p.Leu241=) c.1777T>C (p.Leu593=) | gnomAD v4 |
17 | g.42543726T>G | CA399604597 | NAGLU | c.1720T>G (p.Leu574Val) c.1058T>G (n.1058T>G) c.889T>G (p.Leu297Val) c.721T>G (p.Leu241Val) c.1777T>G (p.Leu593Val) | |
17 | g.42543727T>A | CA399604600 | NAGLU | c.1721T>A (p.Leu574Ter) c.1059T>A (n.1059T>A) c.890T>A (p.Leu297Ter) c.722T>A (p.Leu241Ter) c.1778T>A (p.Leu593Ter) | |
17 | g.42543727T>C | CA399604604 | NAGLU | c.1721T>C (p.Leu574Ser) c.1059T>C (n.1059T>C) c.890T>C (p.Leu297Ser) c.722T>C (p.Leu241Ser) c.1778T>C (p.Leu593Ser) | gnomAD v4 |
17 | g.42543727T>G | CA399604602 | NAGLU | c.1721T>G (p.Leu574Trp) c.1059T>G (n.1059T>G) c.890T>G (p.Leu297Trp) c.722T>G (p.Leu241Trp) c.1778T>G (p.Leu593Trp) | |
17 | g.42543728G>A | CA500217240 | NAGLU | c.1722G>A (p.Leu574=) c.1060G>A (n.1060G>A) c.891G>A (p.Leu297=) c.723G>A (p.Leu241=) c.1779G>A (p.Leu593=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543728G>C | CA399604606 | NAGLU | c.1722G>C (p.Leu574Phe) c.1060G>C (n.1060G>C) c.891G>C (p.Leu297Phe) c.723G>C (p.Leu241Phe) c.1779G>C (p.Leu593Phe) | |
17 | g.42543728G= | CA2260530433 | NAGLU | c.1722G= (p.Leu574=) c.1060G= (n.1060G=) c.891G= (p.Leu297=) c.723G= (p.Leu241=) c.1779G= (p.Leu593=) | |
17 | g.42543728G>T | CA399604608 | NAGLU | c.1722G>T (p.Leu574Phe) c.1060G>T (n.1060G>T) c.891G>T (p.Leu297Phe) c.723G>T (p.Leu241Phe) c.1779G>T (p.Leu593Phe) | |
17 | g.42543729T>A | CA399604610 | NAGLU | c.1723T>A (p.Tyr575Asn) c.1061T>A (n.1061T>A) c.892T>A (p.Tyr298Asn) c.724T>A (p.Tyr242Asn) c.1780T>A (p.Tyr594Asn) | |
17 | g.42543729T>C | CA399604612 | NAGLU | c.1723T>C (p.Tyr575His) c.1061T>C (n.1061T>C) c.892T>C (p.Tyr298His) c.724T>C (p.Tyr242His) c.1780T>C (p.Tyr594His) | gnomAD v4 |
17 | g.42543729T>G | CA399604614 | NAGLU | c.1723T>G (p.Tyr575Asp) c.1061T>G (n.1061T>G) c.892T>G (p.Tyr298Asp) c.724T>G (p.Tyr242Asp) c.1780T>G (p.Tyr594Asp) | |
17 | g.42543730A= | CA2260530434 | NAGLU | c.1724A= (p.Tyr575=) c.1062A= (n.1062A=) c.893A= (p.Tyr298=) c.725A= (p.Tyr242=) c.1781A= (p.Tyr594=) | |
17 | g.42543730A>C | CA399604616 | NAGLU | c.1724A>C (p.Tyr575Ser) c.1062A>C (n.1062A>C) c.893A>C (p.Tyr298Ser) c.725A>C (p.Tyr242Ser) c.1781A>C (p.Tyr594Ser) | dbSNP |
17 | g.42543730A>G | CA8577083 | NAGLU | c.1724A>G (p.Tyr575Cys) c.1062A>G (n.1062A>G) c.893A>G (p.Tyr298Cys) c.725A>G (p.Tyr242Cys) c.1781A>G (p.Tyr594Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42543730A>T | CA399604618 | NAGLU | c.1724A>T (p.Tyr575Phe) c.1062A>T (n.1062A>T) c.893A>T (p.Tyr298Phe) c.725A>T (p.Tyr242Phe) c.1781A>T (p.Tyr594Phe) | |
17 | g.42543731C>A | CA399604621 | NAGLU | c.1725C>A (p.Tyr575Ter) c.1063C>A (n.1063C>A) c.894C>A (p.Tyr298Ter) c.726C>A (p.Tyr242Ter) c.1782C>A (p.Tyr594Ter) | |
17 | g.42543731C>G | CA399604623 | NAGLU | c.1725C>G (p.Tyr575Ter) c.1063C>G (n.1063C>G) c.894C>G (p.Tyr298Ter) c.726C>G (p.Tyr242Ter) c.1782C>G (p.Tyr594Ter) | |
17 | g.42543731C>T | CA500217250 | NAGLU | c.1725C>T (p.Tyr575=) c.1063C>T (n.1063C>T) c.894C>T (p.Tyr298=) c.726C>T (p.Tyr242=) c.1782C>T (p.Tyr594=) | ClinVar |
17 | g.42543732T>A | CA399604625 | NAGLU | c.1726T>A (p.Tyr576Asn) c.1064T>A (n.1064T>A) c.895T>A (p.Tyr299Asn) c.727T>A (p.Tyr243Asn) c.1783T>A (p.Tyr595Asn) | |
17 | g.42543732T>C | CA399604627 | NAGLU | c.1726T>C (p.Tyr576His) c.1064T>C (n.1064T>C) c.895T>C (p.Tyr299His) c.727T>C (p.Tyr243His) c.1783T>C (p.Tyr595His) | |
17 | g.42543732T>G | CA399604629 | NAGLU | c.1726T>G (p.Tyr576Asp) c.1064T>G (n.1064T>G) c.895T>G (p.Tyr299Asp) c.727T>G (p.Tyr243Asp) c.1783T>G (p.Tyr595Asp) | |
17 | g.42543733A>C | CA399604631 | NAGLU | c.1727A>C (p.Tyr576Ser) c.1065A>C (n.1065A>C) c.896A>C (p.Tyr299Ser) c.728A>C (p.Tyr243Ser) c.1784A>C (p.Tyr595Ser) | |
17 | g.42543733A>G | CA399604633 | NAGLU | c.1727A>G (p.Tyr576Cys) c.1065A>G (n.1065A>G) c.896A>G (p.Tyr299Cys) c.728A>G (p.Tyr243Cys) c.1784A>G (p.Tyr595Cys) | gnomAD v4 |
17 | g.42543733A>T | CA399604632 | NAGLU | c.1727A>T (p.Tyr576Phe) c.1065A>T (n.1065A>T) c.896A>T (p.Tyr299Phe) c.728A>T (p.Tyr243Phe) c.1784A>T (p.Tyr595Phe) | |
17 | g.42543734T>A | CA399604636 | NAGLU | c.1728T>A (p.Tyr576Ter) c.1066T>A (n.1066T>A) c.897T>A (p.Tyr299Ter) c.729T>A (p.Tyr243Ter) c.1785T>A (p.Tyr595Ter) | |
17 | g.42543734T>C | CA290780981 | NAGLU | c.1728T>C (p.Tyr576=) c.1066T>C (n.1066T>C) c.897T>C (p.Tyr299=) c.729T>C (p.Tyr243=) c.1785T>C (p.Tyr595=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42543734T>G | CA399604638 | NAGLU | c.1728T>G (p.Tyr576Ter) c.1066T>G (n.1066T>G) c.897T>G (p.Tyr299Ter) c.729T>G (p.Tyr243Ter) c.1785T>G (p.Tyr595Ter) | |
17 | g.42543734T= | CA2260530435 | NAGLU | c.1728T= (p.Tyr576=) c.1066T= (n.1066T=) c.897T= (p.Tyr299=) c.729T= (p.Tyr243=) c.1785T= (p.Tyr595=) | |
17 | g.42543735G>A | CA399604640 | NAGLU | c.1729G>A (p.Glu577Lys) c.1067G>A (n.1067G>A) c.898G>A (p.Glu300Lys) c.730G>A (p.Glu244Lys) c.1786G>A (p.Glu596Lys) | gnomAD v4 |
17 | g.42543735G>C | CA399604642 | NAGLU | c.1729G>C (p.Glu577Gln) c.1067G>C (n.1067G>C) c.898G>C (p.Glu300Gln) c.730G>C (p.Glu244Gln) c.1786G>C (p.Glu596Gln) | |
17 | g.42543735G>T | CA399604644 | NAGLU | c.1729G>T (p.Glu577Ter) c.1067G>T (n.1067G>T) c.898G>T (p.Glu300Ter) c.730G>T (p.Glu244Ter) c.1786G>T (p.Glu596Ter) | gnomAD v4 |
17 | g.42543736A>C | CA399604646 | NAGLU | c.1730A>C (p.Glu577Ala) c.1068A>C (n.1068A>C) c.899A>C (p.Glu300Ala) c.731A>C (p.Glu244Ala) c.1787A>C (p.Glu596Ala) | |
17 | g.42543736A>G | CA399604648 | NAGLU | c.1730A>G (p.Glu577Gly) c.1068A>G (n.1068A>G) c.899A>G (p.Glu300Gly) c.731A>G (p.Glu244Gly) c.1787A>G (p.Glu596Gly) | |
17 | g.42543736A>T | CA399604649 | NAGLU | c.1730A>T (p.Glu577Val) c.1068A>T (n.1068A>T) c.899A>T (p.Glu300Val) c.731A>T (p.Glu244Val) c.1787A>T (p.Glu596Val) | |
17 | g.42543737G>A | CA500217261 | NAGLU | c.1731G>A (p.Glu577=) c.1069G>A (n.1069G>A) c.900G>A (p.Glu300=) c.732G>A (p.Glu244=) c.1788G>A (p.Glu596=) | dbSNP |
17 | g.42543737G>C | CA399604652 | NAGLU | c.1731G>C (p.Glu577Asp) c.1069G>C (n.1069G>C) c.900G>C (p.Glu300Asp) c.732G>C (p.Glu244Asp) c.1788G>C (p.Glu596Asp) | gnomAD v4 |
17 | g.42543737G= | CA2260530436 | NAGLU | c.1731G= (p.Glu577=) c.1069G= (n.1069G=) c.900G= (p.Glu300=) c.732G= (p.Glu244=) c.1788G= (p.Glu596=) | |
17 | g.42543737G>T | CA399604654 | NAGLU | c.1731G>T (p.Glu577Asp) c.1069G>T (n.1069G>T) c.900G>T (p.Glu300Asp) c.732G>T (p.Glu244Asp) c.1788G>T (p.Glu596Asp) | |
17 | g.42543738G>A | CA399604660 | NAGLU | c.1732G>A (p.Glu578Lys) c.1070G>A (n.1070G>A) c.901G>A (p.Glu301Lys) c.733G>A (p.Glu245Lys) c.1789G>A (p.Glu597Lys) | gnomAD v4 |
17 | g.42543738G>C | CA399604658 | NAGLU | c.1732G>C (p.Glu578Gln) c.1070G>C (n.1070G>C) c.901G>C (p.Glu301Gln) c.733G>C (p.Glu245Gln) c.1789G>C (p.Glu597Gln) | |
17 | g.42543738G>T | CA399604656 | NAGLU | c.1732G>T (p.Glu578Ter) c.1070G>T (n.1070G>T) c.901G>T (p.Glu301Ter) c.733G>T (p.Glu245Ter) c.1789G>T (p.Glu597Ter) | |
17 | g.42543739A>C | CA399604662 | NAGLU | c.1733A>C (p.Glu578Ala) c.1071A>C (n.1071A>C) c.902A>C (p.Glu301Ala) c.734A>C (p.Glu245Ala) c.1790A>C (p.Glu597Ala) | |
17 | g.42543739A>G | CA399604664 | NAGLU | c.1733A>G (p.Glu578Gly) c.1071A>G (n.1071A>G) c.902A>G (p.Glu301Gly) c.734A>G (p.Glu245Gly) c.1790A>G (p.Glu597Gly) | |
17 | g.42543739A>T | CA399604665 | NAGLU | c.1733A>T (p.Glu578Val) c.1071A>T (n.1071A>T) c.902A>T (p.Glu301Val) c.734A>T (p.Glu245Val) c.1790A>T (p.Glu597Val) | |
17 | g.42543740G>A | CA500217265 | NAGLU | c.1734G>A (p.Glu578=) c.1072G>A (n.1072G>A) c.903G>A (p.Glu301=) c.735G>A (p.Glu245=) c.1791G>A (p.Glu597=) | |
17 | g.42543740G>C | CA399604668 | NAGLU | c.1734G>C (p.Glu578Asp) c.1072G>C (n.1072G>C) c.903G>C (p.Glu301Asp) c.735G>C (p.Glu245Asp) c.1791G>C (p.Glu597Asp) | gnomAD v4 |
17 | g.42543740G>T | CA399604669 | NAGLU | c.1734G>T (p.Glu578Asp) c.1072G>T (n.1072G>T) c.903G>T (p.Glu301Asp) c.735G>T (p.Glu245Asp) c.1791G>T (p.Glu597Asp) | |
17 | g.42543741G>A | CA399604672 | NAGLU | c.1735G>A (p.Ala579Thr) c.1073G>A (n.1073G>A) c.904G>A (p.Ala302Thr) c.736G>A (p.Ala246Thr) c.1792G>A (p.Ala598Thr) | ClinVar gnomAD v4 |
17 | g.42543741G>C | CA399604674 | NAGLU | c.1735G>C (p.Ala579Pro) c.1073G>C (n.1073G>C) c.904G>C (p.Ala302Pro) c.736G>C (p.Ala246Pro) c.1792G>C (p.Ala598Pro) | |
17 | g.42543741G>T | CA399604675 | NAGLU | c.1735G>T (p.Ala579Ser) c.1073G>T (n.1073G>T) c.904G>T (p.Ala302Ser) c.736G>T (p.Ala246Ser) c.1792G>T (p.Ala598Ser) | gnomAD v4 |
17 | g.42543742C>A | CA399604676 | NAGLU | c.1736C>A (p.Ala579Glu) c.1074C>A (n.1074C>A) c.905C>A (p.Ala302Glu) c.737C>A (p.Ala246Glu) c.1793C>A (p.Ala598Glu) | |
17 | g.42543742C= | CA2260530437 | NAGLU | c.1736C= (p.Ala579=) c.1074C= (n.1074C=) c.905C= (p.Ala302=) c.737C= (p.Ala246=) c.1793C= (p.Ala598=) | |
17 | g.42543742C>G | CA399604678 | NAGLU | c.1736C>G (p.Ala579Gly) c.1074C>G (n.1074C>G) c.905C>G (p.Ala302Gly) c.737C>G (p.Ala246Gly) c.1793C>G (p.Ala598Gly) | |
17 | g.42543742C>T | CA290780988 | NAGLU | c.1736C>T (p.Ala579Val) c.1074C>T (n.1074C>T) c.905C>T (p.Ala302Val) c.737C>T (p.Ala246Val) c.1793C>T (p.Ala598Val) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42543743A>C | CA500217275 | NAGLU | c.1737A>C (p.Ala579=) c.1075A>C (n.1075A>C) c.906A>C (p.Ala302=) c.738A>C (p.Ala246=) c.1794A>C (p.Ala598=) | |
17 | g.42543743A>G | CA500217274 | NAGLU | c.1737A>G (p.Ala579=) c.1075A>G (n.1075A>G) c.906A>G (p.Ala302=) c.738A>G (p.Ala246=) c.1794A>G (p.Ala598=) | |
17 | g.42543743A>T | CA500217273 | NAGLU | c.1737A>T (p.Ala579=) c.1075A>T (n.1075A>T) c.906A>T (p.Ala302=) c.738A>T (p.Ala246=) c.1794A>T (p.Ala598=) | |
17 | g.42543746_42543748del | CA2580613139 | NAGLU | c.1740_1742del (p.Arg580del) c.1078_1080del (n.1078_1080del) c.909_911del (p.Arg303del) c.741_743del (p.Arg247del) c.1797_1799del (p.Arg599del) | ClinVar |
17 | g.42543744A= | CA2260530438 | NAGLU | c.1738A= (p.Arg580=) c.1076A= (n.1076A=) c.907A= (p.Arg303=) c.739A= (p.Arg247=) c.1795A= (p.Arg599=) | |
17 | g.42543744A>C | CA500217276 | NAGLU | c.1738A>C (p.Arg580=) c.1076A>C (n.1076A>C) c.907A>C (p.Arg303=) c.739A>C (p.Arg247=) c.1795A>C (p.Arg599=) | |
17 | g.42543744A>G | CA399604681 | NAGLU | c.1738A>G (p.Arg580Gly) c.1076A>G (n.1076A>G) c.907A>G (p.Arg303Gly) c.739A>G (p.Arg247Gly) c.1795A>G (p.Arg599Gly) | dbSNP |
17 | g.42543744A>T | CA399604683 | NAGLU | c.1738A>T (p.Arg580Ter) c.1076A>T (n.1076A>T) c.907A>T (p.Arg303Ter) c.739A>T (p.Arg247Ter) c.1795A>T (p.Arg599Ter) | |
17 | g.42543744_42543750dup | CA2573054424 | NAGLU | c.1738_1744dup (p.Ala582GlufsTer22) c.1076_1082dup (n.1076_1082dup) c.907_913dup (p.Ala305GlufsTer22) c.739_745dup (p.Ala249GlufsTer22) c.1795_1801dup (p.Ala601GlufsTer22) | ClinVar dbSNP |
17 | g.42543745G>A | CA399604689 | NAGLU | c.1739G>A (p.Arg580Lys) c.1077G>A (n.1077G>A) c.908G>A (p.Arg303Lys) c.740G>A (p.Arg247Lys) c.1796G>A (p.Arg599Lys) | dbSNP gnomAD v4 |
17 | g.42543745G>C | CA399604686 | NAGLU | c.1739G>C (p.Arg580Thr) c.1077G>C (n.1077G>C) c.908G>C (p.Arg303Thr) c.740G>C (p.Arg247Thr) c.1796G>C (p.Arg599Thr) | |
17 | g.42543745G= | CA2260530439 | NAGLU | c.1739G= (p.Arg580=) c.1077G= (n.1077G=) c.908G= (p.Arg303=) c.740G= (p.Arg247=) c.1796G= (p.Arg599=) | |
17 | g.42543745G>T | CA399604687 | NAGLU | c.1739G>T (p.Arg580Ile) c.1077G>T (n.1077G>T) c.908G>T (p.Arg303Ile) c.740G>T (p.Arg247Ile) c.1796G>T (p.Arg599Ile) | |
17 | g.42543746A>C | CA399604691 | NAGLU | c.1740A>C (p.Arg580Ser) c.1078A>C (n.1078A>C) c.909A>C (p.Arg303Ser) c.741A>C (p.Arg247Ser) c.1797A>C (p.Arg599Ser) | |
17 | g.42543746A>G | CA500217283 | NAGLU | c.1740A>G (p.Arg580=) c.1078A>G (n.1078A>G) c.909A>G (p.Arg303=) c.741A>G (p.Arg247=) c.1797A>G (p.Arg599=) | |
17 | g.42543746A>T | CA399604693 | NAGLU | c.1740A>T (p.Arg580Ser) c.1078A>T (n.1078A>T) c.909A>T (p.Arg303Ser) c.741A>T (p.Arg247Ser) c.1797A>T (p.Arg599Ser) | |
17 | g.42543747A>C | CA399604696 | NAGLU | c.1741A>C (p.Ser581Arg) c.1079A>C (n.1079A>C) c.910A>C (p.Ser304Arg) c.742A>C (p.Ser248Arg) c.1798A>C (p.Ser600Arg) | |
17 | g.42543747A>G | CA399604698 | NAGLU | c.1741A>G (p.Ser581Gly) c.1079A>G (n.1079A>G) c.910A>G (p.Ser304Gly) c.742A>G (p.Ser248Gly) c.1798A>G (p.Ser600Gly) | |
17 | g.42543747A>T | CA399604699 | NAGLU | c.1741A>T (p.Ser581Cys) c.1079A>T (n.1079A>T) c.910A>T (p.Ser304Cys) c.742A>T (p.Ser248Cys) c.1798A>T (p.Ser600Cys) | |
17 | g.42543748G>A | CA399604700 | NAGLU | c.1742G>A (p.Ser581Asn) c.1080G>A (n.1080G>A) c.911G>A (p.Ser304Asn) c.743G>A (p.Ser248Asn) c.1799G>A (p.Ser600Asn) | gnomAD v4 |
17 | g.42543748G>C | CA399604701 | NAGLU | c.1742G>C (p.Ser581Thr) c.1080G>C (n.1080G>C) c.911G>C (p.Ser304Thr) c.743G>C (p.Ser248Thr) c.1799G>C (p.Ser600Thr) | |
17 | g.42543748G>T | CA399604702 | NAGLU | c.1742G>T (p.Ser581Ile) c.1080G>T (n.1080G>T) c.911G>T (p.Ser304Ile) c.743G>T (p.Ser248Ile) c.1799G>T (p.Ser600Ile) | gnomAD v4 |
17 | g.42543749C>A | CA399604704 | NAGLU | c.1743C>A (p.Ser581Arg) c.1081C>A (n.1081C>A) c.912C>A (p.Ser304Arg) c.744C>A (p.Ser248Arg) c.1800C>A (p.Ser600Arg) | gnomAD v4 |
17 | g.42543749C= | CA2260530440 | NAGLU | c.1743C= (p.Ser581=) c.1081C= (n.1081C=) c.912C= (p.Ser304=) c.744C= (p.Ser248=) c.1800C= (p.Ser600=) | |
17 | g.42543749C>G | CA399604706 | NAGLU | c.1743C>G (p.Ser581Arg) c.1081C>G (n.1081C>G) c.912C>G (p.Ser304Arg) c.744C>G (p.Ser248Arg) c.1800C>G (p.Ser600Arg) | |
17 | g.42543749C>T | CA500217287 | NAGLU | c.1743C>T (p.Ser581=) c.1081C>T (n.1081C>T) c.912C>T (p.Ser304=) c.744C>T (p.Ser248=) c.1800C>T (p.Ser600=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543750G>A | CA8577084 | NAGLU | c.1744G>A (p.Ala582Thr) c.1082G>A (n.1082G>A) c.913G>A (p.Ala305Thr) c.745G>A (p.Ala249Thr) c.1801G>A (p.Ala601Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543750G>C | CA8577085 | NAGLU | c.1744G>C (p.Ala582Pro) c.1082G>C (n.1082G>C) c.913G>C (p.Ala305Pro) c.745G>C (p.Ala249Pro) c.1801G>C (p.Ala601Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42543750G= | CA2260530441 | NAGLU | c.1744G= (p.Ala582=) c.1082G= (n.1082G=) c.913G= (p.Ala305=) c.745G= (p.Ala249=) c.1801G= (p.Ala601=) | |
17 | g.42543750G>T | CA399604710 | NAGLU | c.1744G>T (p.Ala582Ser) c.1082G>T (n.1082G>T) c.913G>T (p.Ala305Ser) c.745G>T (p.Ala249Ser) c.1801G>T (p.Ala601Ser) | ClinVar gnomAD v4 |
17 | g.42543751C>A | CA399604715 | NAGLU | c.1745C>A (p.Ala582Asp) c.1083C>A (n.1083C>A) c.914C>A (p.Ala305Asp) c.746C>A (p.Ala249Asp) c.1802C>A (p.Ala601Asp) | |
17 | g.42543751C>G | CA399604716 | NAGLU | c.1745C>G (p.Ala582Gly) c.1083C>G (n.1083C>G) c.914C>G (p.Ala305Gly) c.746C>G (p.Ala249Gly) c.1802C>G (p.Ala601Gly) | |
17 | g.42543751C>T | CA399604712 | NAGLU | c.1745C>T (p.Ala582Val) c.1083C>T (n.1083C>T) c.914C>T (p.Ala305Val) c.746C>T (p.Ala249Val) c.1802C>T (p.Ala601Val) | |
17 | g.42543752C>A | CA500217293 | NAGLU | c.1746C>A (p.Ala582=) c.1084C>A (n.1084C>A) c.915C>A (p.Ala305=) c.747C>A (p.Ala249=) c.1803C>A (p.Ala601=) | |
17 | g.42543752C= | CA2260530442 | NAGLU | c.1746C= (p.Ala582=) c.1084C= (n.1084C=) c.915C= (p.Ala305=) c.747C= (p.Ala249=) c.1803C= (p.Ala601=) | |
17 | g.42543752C>G | CA500217296 | NAGLU | c.1746C>G (p.Ala582=) c.1084C>G (n.1084C>G) c.915C>G (p.Ala305=) c.747C>G (p.Ala249=) c.1803C>G (p.Ala601=) | |
17 | g.42543752C>T | CA500217295 | NAGLU | c.1746C>T (p.Ala582=) c.1084C>T (n.1084C>T) c.915C>T (p.Ala305=) c.747C>T (p.Ala249=) c.1803C>T (p.Ala601=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543753T>A | CA399604720 | NAGLU | c.1747T>A (p.Tyr583Asn) c.1085T>A (n.1085T>A) c.916T>A (p.Tyr306Asn) c.748T>A (p.Tyr250Asn) c.1804T>A (p.Tyr602Asn) | |
17 | g.42543753T>C | CA399604718 | NAGLU | c.1747T>C (p.Tyr583His) c.1085T>C (n.1085T>C) c.916T>C (p.Tyr306His) c.748T>C (p.Tyr250His) c.1804T>C (p.Tyr602His) | gnomAD v4 |
17 | g.42543753T>G | CA399604722 | NAGLU | c.1747T>G (p.Tyr583Asp) c.1085T>G (n.1085T>G) c.916T>G (p.Tyr306Asp) c.748T>G (p.Tyr250Asp) c.1804T>G (p.Tyr602Asp) | |
17 | g.42543754A>C | CA399604724 | NAGLU | c.1748A>C (p.Tyr583Ser) c.1086A>C (n.1086A>C) c.917A>C (p.Tyr306Ser) c.749A>C (p.Tyr250Ser) c.1805A>C (p.Tyr602Ser) | |
17 | g.42543754A>G | CA399604726 | NAGLU | c.1748A>G (p.Tyr583Cys) c.1086A>G (n.1086A>G) c.917A>G (p.Tyr306Cys) c.749A>G (p.Tyr250Cys) c.1805A>G (p.Tyr602Cys) | |
17 | g.42543754A>T | CA399604728 | NAGLU | c.1748A>T (p.Tyr583Phe) c.1086A>T (n.1086A>T) c.917A>T (p.Tyr306Phe) c.749A>T (p.Tyr250Phe) c.1805A>T (p.Tyr602Phe) | |
17 | g.42543754_42543755delinsAC | CA2260530443 | NAGLU | c.1748_1749delinsAC (p.Tyr583=) c.1086_1087delinsAC (n.1086_1087delinsAC) c.917_918delinsAC (p.Tyr306=) c.749_750delinsAC (p.Tyr250=) c.1805_1806delinsAC (p.Tyr602=) | |
17 | g.42543755C>A | CA399604730 | NAGLU | c.1749C>A (p.Tyr583Ter) c.1087C>A (n.1087C>A) c.918C>A (p.Tyr306Ter) c.750C>A (p.Tyr250Ter) c.1806C>A (p.Tyr602Ter) | |
17 | g.42543755C= | CA2260530445 | NAGLU | c.1749C= (p.Tyr583=) c.1087C= (n.1087C=) c.918C= (p.Tyr306=) c.750C= (p.Tyr250=) c.1806C= (p.Tyr602=) | |
17 | g.42543755C>G | CA399604732 | NAGLU | c.1749C>G (p.Tyr583Ter) c.1087C>G (n.1087C>G) c.918C>G (p.Tyr306Ter) c.750C>G (p.Tyr250Ter) c.1806C>G (p.Tyr602Ter) | |
17 | g.42543755C>T | CA500217301 | NAGLU | c.1749C>T (p.Tyr583=) c.1087C>T (n.1087C>T) c.918C>T (p.Tyr306=) c.750C>T (p.Tyr250=) c.1806C>T (p.Tyr602=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543756del | CA2260530444 | NAGLU | c.1750del (p.Leu584Ter) c.1088del (n.1088del) c.919del (p.Leu307Ter) c.751del (p.Leu251Ter) c.1807del (p.Leu603Ter) | dbSNP |
17 | g.42543756C>A | CA399604737 | NAGLU | c.1750C>A (p.Leu584Met) c.1088C>A (n.1088C>A) c.919C>A (p.Leu307Met) c.751C>A (p.Leu251Met) c.1807C>A (p.Leu603Met) | |
17 | g.42543756C= | CA2260530446 | NAGLU | c.1750C= (p.Leu584=) c.1088C= (n.1088C=) c.919C= (p.Leu307=) c.751C= (p.Leu251=) c.1807C= (p.Leu603=) | |
17 | g.42543756C>G | CA399604735 | NAGLU | c.1750C>G (p.Leu584Val) c.1088C>G (n.1088C>G) c.919C>G (p.Leu307Val) c.751C>G (p.Leu251Val) c.1807C>G (p.Leu603Val) | |
17 | g.42543756C>T | CA8577086 | NAGLU | c.1750C>T (p.Leu584=) c.1088C>T (n.1088C>T) c.919C>T (p.Leu307=) c.751C>T (p.Leu251=) c.1807C>T (p.Leu603=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543757T>A | CA399604739 | NAGLU | c.1751T>A (p.Leu584Gln) c.1089T>A (n.1089T>A) c.920T>A (p.Leu307Gln) c.752T>A (p.Leu251Gln) c.1808T>A (p.Leu603Gln) | |
17 | g.42543757T>C | CA399604741 | NAGLU | c.1751T>C (p.Leu584Pro) c.1089T>C (n.1089T>C) c.920T>C (p.Leu307Pro) c.752T>C (p.Leu251Pro) c.1808T>C (p.Leu603Pro) | |
17 | g.42543757T>G | CA399604743 | NAGLU | c.1751T>G (p.Leu584Arg) c.1089T>G (n.1089T>G) c.920T>G (p.Leu307Arg) c.752T>G (p.Leu251Arg) c.1808T>G (p.Leu603Arg) | |
17 | g.42543758G>A | CA500217308 | NAGLU | c.1752G>A (p.Leu584=) c.1090G>A (n.1090G>A) c.921G>A (p.Leu307=) c.753G>A (p.Leu251=) c.1809G>A (p.Leu603=) | |
17 | g.42543758G>C | CA500217307 | NAGLU | c.1752G>C (p.Leu584=) c.1090G>C (n.1090G>C) c.921G>C (p.Leu307=) c.753G>C (p.Leu251=) c.1809G>C (p.Leu603=) | |
17 | g.42543758G>T | CA500217306 | NAGLU | c.1752G>T (p.Leu584=) c.1090G>T (n.1090G>T) c.921G>T (p.Leu307=) c.753G>T (p.Leu251=) c.1809G>T (p.Leu603=) | |
17 | g.42543759A>C | CA399604745 | NAGLU | c.1753A>C (p.Ser585Arg) c.1091A>C (n.1091A>C) c.922A>C (p.Ser308Arg) c.754A>C (p.Ser252Arg) c.1810A>C (p.Ser604Arg) | |
17 | g.42543759A>G | CA399604747 | NAGLU | c.1753A>G (p.Ser585Gly) c.1091A>G (n.1091A>G) c.922A>G (p.Ser308Gly) c.754A>G (p.Ser252Gly) c.1810A>G (p.Ser604Gly) | |
17 | g.42543759A>T | CA399604749 | NAGLU | c.1753A>T (p.Ser585Cys) c.1091A>T (n.1091A>T) c.922A>T (p.Ser308Cys) c.754A>T (p.Ser252Cys) c.1810A>T (p.Ser604Cys) | |
17 | g.42543760G>A | CA399604750 | NAGLU | c.1754G>A (p.Ser585Asn) c.1092G>A (n.1092G>A) c.923G>A (p.Ser308Asn) c.755G>A (p.Ser252Asn) c.1811G>A (p.Ser604Asn) | gnomAD v4 |
17 | g.42543760G>C | CA399604752 | NAGLU | c.1754G>C (p.Ser585Thr) c.1092G>C (n.1092G>C) c.923G>C (p.Ser308Thr) c.755G>C (p.Ser252Thr) c.1811G>C (p.Ser604Thr) | |
17 | g.42543760G>T | CA399604751 | NAGLU | c.1754G>T (p.Ser585Ile) c.1092G>T (n.1092G>T) c.923G>T (p.Ser308Ile) c.755G>T (p.Ser252Ile) c.1811G>T (p.Ser604Ile) | gnomAD v4 |
17 | g.42543761C>A | CA399604754 | NAGLU | c.1755C>A (p.Ser585Arg) c.1093C>A (n.1093C>A) c.924C>A (p.Ser308Arg) c.756C>A (p.Ser252Arg) c.1812C>A (p.Ser604Arg) | gnomAD v4 |
17 | g.42543761C>G | CA399604756 | NAGLU | c.1755C>G (p.Ser585Arg) c.1093C>G (n.1093C>G) c.924C>G (p.Ser308Arg) c.756C>G (p.Ser252Arg) c.1812C>G (p.Ser604Arg) | |
17 | g.42543761C>T | CA500217312 | NAGLU | c.1755C>T (p.Ser585=) c.1093C>T (n.1093C>T) c.924C>T (p.Ser308=) c.756C>T (p.Ser252=) c.1812C>T (p.Ser604=) | |
17 | g.42543762A>C | CA399604758 | NAGLU | c.1756A>C (p.Lys586Gln) c.1094A>C (n.1094A>C) c.925A>C (p.Lys309Gln) c.757A>C (p.Lys253Gln) c.1813A>C (p.Lys605Gln) | |
17 | g.42543762A>G | CA399604759 | NAGLU | c.1756A>G (p.Lys586Glu) c.1094A>G (n.1094A>G) c.925A>G (p.Lys309Glu) c.757A>G (p.Lys253Glu) c.1813A>G (p.Lys605Glu) | |
17 | g.42543762A>T | CA399604761 | NAGLU | c.1756A>T (p.Lys586Ter) c.1094A>T (n.1094A>T) c.925A>T (p.Lys309Ter) c.757A>T (p.Lys253Ter) c.1813A>T (p.Lys605Ter) | |
17 | g.42543763A>C | CA399604763 | NAGLU | c.1757A>C (p.Lys586Thr) c.1095A>C (n.1095A>C) c.926A>C (p.Lys309Thr) c.758A>C (p.Lys253Thr) c.1814A>C (p.Lys605Thr) | |
17 | g.42543763A>G | CA399604765 | NAGLU | c.1757A>G (p.Lys586Arg) c.1095A>G (n.1095A>G) c.926A>G (p.Lys309Arg) c.758A>G (p.Lys253Arg) c.1814A>G (p.Lys605Arg) | |
17 | g.42543763A>T | CA399604767 | NAGLU | c.1757A>T (p.Lys586Met) c.1095A>T (n.1095A>T) c.926A>T (p.Lys309Met) c.758A>T (p.Lys253Met) c.1814A>T (p.Lys605Met) | |
17 | g.42543764G>A | CA500217319 | NAGLU | c.1758G>A (p.Lys586=) c.1096G>A (n.1096G>A) c.927G>A (p.Lys309=) c.759G>A (p.Lys253=) c.1815G>A (p.Lys605=) | dbSNP |
17 | g.42543764G>C | CA399604769 | NAGLU | c.1758G>C (p.Lys586Asn) c.1096G>C (n.1096G>C) c.927G>C (p.Lys309Asn) c.759G>C (p.Lys253Asn) c.1815G>C (p.Lys605Asn) | |
17 | g.42543764G= | CA2260530447 | NAGLU | c.1758G= (p.Lys586=) c.1096G= (n.1096G=) c.927G= (p.Lys309=) c.759G= (p.Lys253=) c.1815G= (p.Lys605=) | |
17 | g.42543764G>T | CA399604771 | NAGLU | c.1758G>T (p.Lys586Asn) c.1096G>T (n.1096G>T) c.927G>T (p.Lys309Asn) c.759G>T (p.Lys253Asn) c.1815G>T (p.Lys605Asn) | |
17 | g.42543765G>A | CA399604777 | NAGLU | c.1759G>A (p.Glu587Lys) c.1097G>A (n.1097G>A) c.928G>A (p.Glu310Lys) c.760G>A (p.Glu254Lys) c.1816G>A (p.Glu606Lys) | gnomAD v4 |
17 | g.42543765G>C | CA399604775 | NAGLU | c.1759G>C (p.Glu587Gln) c.1097G>C (n.1097G>C) c.928G>C (p.Glu310Gln) c.760G>C (p.Glu254Gln) c.1816G>C (p.Glu606Gln) | |
17 | g.42543765G>T | CA399604774 | NAGLU | c.1759G>T (p.Glu587Ter) c.1097G>T (n.1097G>T) c.928G>T (p.Glu310Ter) c.760G>T (p.Glu254Ter) c.1816G>T (p.Glu606Ter) | gnomAD v4 |
17 | g.42543766A= | CA2260530448 | NAGLU | c.1760A= (p.Glu587=) c.1098A= (n.1098A=) c.929A= (p.Glu310=) c.761A= (p.Glu254=) c.1817A= (p.Glu606=) | |
17 | g.42543766A>C | CA399604780 | NAGLU | c.1760A>C (p.Glu587Ala) c.1098A>C (n.1098A>C) c.929A>C (p.Glu310Ala) c.761A>C (p.Glu254Ala) c.1817A>C (p.Glu606Ala) | |
17 | g.42543766A>G | CA399604781 | NAGLU | c.1760A>G (p.Glu587Gly) c.1098A>G (n.1098A>G) c.929A>G (p.Glu310Gly) c.761A>G (p.Glu254Gly) c.1817A>G (p.Glu606Gly) | dbSNP gnomAD v2 |
17 | g.42543766A>T | CA399604783 | NAGLU | c.1760A>T (p.Glu587Val) c.1098A>T (n.1098A>T) c.929A>T (p.Glu310Val) c.761A>T (p.Glu254Val) c.1817A>T (p.Glu606Val) | |
17 | g.42543767G>A | CA500217324 | NAGLU | c.1761G>A (p.Glu587=) c.1099G>A (n.1099G>A) c.930G>A (p.Glu310=) c.762G>A (p.Glu254=) c.1818G>A (p.Glu606=) | |
17 | g.42543767G>C | CA399604785 | NAGLU | c.1761G>C (p.Glu587Asp) c.1099G>C (n.1099G>C) c.930G>C (p.Glu310Asp) c.762G>C (p.Glu254Asp) c.1818G>C (p.Glu606Asp) | |
17 | g.42543767G>T | CA399604787 | NAGLU | c.1761G>T (p.Glu587Asp) c.1099G>T (n.1099G>T) c.930G>T (p.Glu310Asp) c.762G>T (p.Glu254Asp) c.1818G>T (p.Glu606Asp) | gnomAD v4 |
17 | g.42543768C>A | CA399604789 | NAGLU | c.1762C>A (p.Leu588Met) c.1100C>A (n.1100C>A) c.931C>A (p.Leu311Met) c.763C>A (p.Leu255Met) c.1819C>A (p.Leu607Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543768C= | CA2260530449 | NAGLU | c.1762C= (p.Leu588=) c.1100C= (n.1100C=) c.931C= (p.Leu311=) c.763C= (p.Leu255=) c.1819C= (p.Leu607=) | |
17 | g.42543768C>G | CA399604790 | NAGLU | c.1762C>G (p.Leu588Val) c.1100C>G (n.1100C>G) c.931C>G (p.Leu311Val) c.763C>G (p.Leu255Val) c.1819C>G (p.Leu607Val) | dbSNP gnomAD v4 |
17 | g.42543768C>T | CA500217329 | NAGLU | c.1762C>T (p.Leu588=) c.1100C>T (n.1100C>T) c.931C>T (p.Leu311=) c.763C>T (p.Leu255=) c.1819C>T (p.Leu607=) | |
17 | g.42543769T>A | CA399604793 | NAGLU | c.1763T>A (p.Leu588Gln) c.1101T>A (n.1101T>A) c.932T>A (p.Leu311Gln) c.764T>A (p.Leu255Gln) c.1820T>A (p.Leu607Gln) | gnomAD v4 |
17 | g.42543769T>C | CA399604794 | NAGLU | c.1763T>C (p.Leu588Pro) c.1101T>C (n.1101T>C) c.932T>C (p.Leu311Pro) c.764T>C (p.Leu255Pro) c.1820T>C (p.Leu607Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543769T>G | CA399604795 | NAGLU | c.1763T>G (p.Leu588Arg) c.1101T>G (n.1101T>G) c.932T>G (p.Leu311Arg) c.764T>G (p.Leu255Arg) c.1820T>G (p.Leu607Arg) | |
17 | g.42543769T= | CA2260530450 | NAGLU | c.1763T= (p.Leu588=) c.1101T= (n.1101T=) c.932T= (p.Leu311=) c.764T= (p.Leu255=) c.1820T= (p.Leu607=) | |
17 | g.42543770G>A | CA500217336 | NAGLU | c.1764G>A (p.Leu588=) c.1102G>A (n.1102G>A) c.933G>A (p.Leu311=) c.765G>A (p.Leu255=) c.1821G>A (p.Leu607=) | ClinVar gnomAD v4 |
17 | g.42543770G>C | CA500217332 | NAGLU | c.1764G>C (p.Leu588=) c.1102G>C (n.1102G>C) c.933G>C (p.Leu311=) c.765G>C (p.Leu255=) c.1821G>C (p.Leu607=) | |
17 | g.42543770G>T | CA500217335 | NAGLU | c.1764G>T (p.Leu588=) c.1102G>T (n.1102G>T) c.933G>T (p.Leu311=) c.765G>T (p.Leu255=) c.1821G>T (p.Leu607=) | gnomAD v4 |
17 | g.42543771G>A | CA399604797 | NAGLU | c.1765G>A (p.Ala589Thr) c.1103G>A (n.1103G>A) c.934G>A (p.Ala312Thr) c.766G>A (p.Ala256Thr) c.1822G>A (p.Ala608Thr) | |
17 | g.42543771G>C | CA399604798 | NAGLU | c.1765G>C (p.Ala589Pro) c.1103G>C (n.1103G>C) c.934G>C (p.Ala312Pro) c.766G>C (p.Ala256Pro) c.1822G>C (p.Ala608Pro) | gnomAD v4 |
17 | g.42543771G>T | CA399604800 | NAGLU | c.1765G>T (p.Ala589Ser) c.1103G>T (n.1103G>T) c.934G>T (p.Ala312Ser) c.766G>T (p.Ala256Ser) c.1822G>T (p.Ala608Ser) | |
17 | g.42543772C>A | CA399604805 | NAGLU | c.1766C>A (p.Ala589Asp) c.1104C>A (n.1104C>A) c.935C>A (p.Ala312Asp) c.767C>A (p.Ala256Asp) c.1823C>A (p.Ala608Asp) | |
17 | g.42543772C= | CA2260530451 | NAGLU | c.1766C= (p.Ala589=) c.1104C= (n.1104C=) c.935C= (p.Ala312=) c.767C= (p.Ala256=) c.1823C= (p.Ala608=) | |
17 | g.42543772C>G | CA399604802 | NAGLU | c.1766C>G (p.Ala589Gly) c.1104C>G (n.1104C>G) c.935C>G (p.Ala312Gly) c.767C>G (p.Ala256Gly) c.1823C>G (p.Ala608Gly) | |
17 | g.42543772C>T | CA8577087 | NAGLU | c.1766C>T (p.Ala589Val) c.1104C>T (n.1104C>T) c.935C>T (p.Ala312Val) c.767C>T (p.Ala256Val) c.1823C>T (p.Ala608Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42543773C>A | CA500217340 | NAGLU | c.1767C>A (p.Ala589=) c.1105C>A (n.1105C>A) c.936C>A (p.Ala312=) c.768C>A (p.Ala256=) c.1824C>A (p.Ala608=) | ClinVar |
17 | g.42543773C>G | CA500217339 | NAGLU | c.1767C>G (p.Ala589=) c.1105C>G (n.1105C>G) c.936C>G (p.Ala312=) c.768C>G (p.Ala256=) c.1824C>G (p.Ala608=) | |
17 | g.42543773C>T | CA500217341 | NAGLU | c.1767C>T (p.Ala589=) c.1105C>T (n.1105C>T) c.936C>T (p.Ala312=) c.768C>T (p.Ala256=) c.1824C>T (p.Ala608=) | ClinVar dbSNP |
17 | g.42543774T>A | CA399604808 | NAGLU | c.1768T>A (p.Ser590Thr) c.1106T>A (n.1106T>A) c.937T>A (p.Ser313Thr) c.769T>A (p.Ser257Thr) c.1825T>A (p.Ser609Thr) | |
17 | g.42543774T>C | CA399604810 | NAGLU | c.1768T>C (p.Ser590Pro) c.1106T>C (n.1106T>C) c.937T>C (p.Ser313Pro) c.769T>C (p.Ser257Pro) c.1825T>C (p.Ser609Pro) | |
17 | g.42543774T>G | CA399604811 | NAGLU | c.1768T>G (p.Ser590Ala) c.1106T>G (n.1106T>G) c.937T>G (p.Ser313Ala) c.769T>G (p.Ser257Ala) c.1825T>G (p.Ser609Ala) | |
17 | g.42543775C>A | CA399604814 | NAGLU | c.1769C>A (p.Ser590Tyr) c.1107C>A (n.1107C>A) c.938C>A (p.Ser313Tyr) c.770C>A (p.Ser257Tyr) c.1826C>A (p.Ser609Tyr) | |
17 | g.42543775C>G | CA399604815 | NAGLU | c.1769C>G (p.Ser590Cys) c.1107C>G (n.1107C>G) c.938C>G (p.Ser313Cys) c.770C>G (p.Ser257Cys) c.1826C>G (p.Ser609Cys) | |
17 | g.42543775C>T | CA399604816 | NAGLU | c.1769C>T (p.Ser590Phe) c.1107C>T (n.1107C>T) c.938C>T (p.Ser313Phe) c.770C>T (p.Ser257Phe) c.1826C>T (p.Ser609Phe) | |
17 | g.42543776C>A | CA500217346 | NAGLU | c.1770C>A (p.Ser590=) c.1108C>A (n.1108C>A) c.939C>A (p.Ser313=) c.771C>A (p.Ser257=) c.1827C>A (p.Ser609=) | |
17 | g.42543776C>G | CA500217351 | NAGLU | c.1770C>G (p.Ser590=) c.1108C>G (n.1108C>G) c.939C>G (p.Ser313=) c.771C>G (p.Ser257=) c.1827C>G (p.Ser609=) | |
17 | g.42543776C>T | CA500217348 | NAGLU | c.1770C>T (p.Ser590=) c.1108C>T (n.1108C>T) c.939C>T (p.Ser313=) c.771C>T (p.Ser257=) c.1827C>T (p.Ser609=) | ClinVar dbSNP |
17 | g.42543777C>A | CA399604817 | NAGLU | c.1771C>A (p.Leu591Met) c.1109C>A (n.1109C>A) c.940C>A (p.Leu314Met) c.772C>A (p.Leu258Met) c.1828C>A (p.Leu610Met) | |
17 | g.42543777C= | CA2260530452 | NAGLU | c.1771C= (p.Leu591=) c.1109C= (n.1109C=) c.940C= (p.Leu314=) c.772C= (p.Leu258=) c.1828C= (p.Leu610=) | |
17 | g.42543777C>G | CA399604818 | NAGLU | c.1771C>G (p.Leu591Val) c.1109C>G (n.1109C>G) c.940C>G (p.Leu314Val) c.772C>G (p.Leu258Val) c.1828C>G (p.Leu610Val) | |
17 | g.42543777C>T | CA8577088 | NAGLU | c.1771C>T (p.Leu591=) c.1109C>T (n.1109C>T) c.940C>T (p.Leu314=) c.772C>T (p.Leu258=) c.1828C>T (p.Leu610=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543778T>A | CA399604822 | NAGLU | c.1772T>A (p.Leu591Gln) c.1110T>A (n.1110T>A) c.941T>A (p.Leu314Gln) c.773T>A (p.Leu258Gln) c.1829T>A (p.Leu610Gln) | dbSNP gnomAD v4 |
17 | g.42543778T>C | CA399604823 | NAGLU | c.1772T>C (p.Leu591Pro) c.1110T>C (n.1110T>C) c.941T>C (p.Leu314Pro) c.773T>C (p.Leu258Pro) c.1829T>C (p.Leu610Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543778T>G | CA399604825 | NAGLU | c.1772T>G (p.Leu591Arg) c.1110T>G (n.1110T>G) c.941T>G (p.Leu314Arg) c.773T>G (p.Leu258Arg) c.1829T>G (p.Leu610Arg) | |
17 | g.42543778T= | CA2260530453 | NAGLU | c.1772T= (p.Leu591=) c.1110T= (n.1110T=) c.941T= (p.Leu314=) c.773T= (p.Leu258=) c.1829T= (p.Leu610=) | |
17 | g.42543779del | CA2573153974 | NAGLU | c.1773del (p.Leu592Ter) c.1111del (n.1111del) c.942del (p.Leu315Ter) c.774del (p.Leu259Ter) c.1830del (p.Leu611Ter) | ClinVar dbSNP |
17 | g.42543779G>A | CA500217356 | NAGLU | c.1773G>A (p.Leu591=) c.1111G>A (n.1111G>A) c.942G>A (p.Leu314=) c.774G>A (p.Leu258=) c.1830G>A (p.Leu610=) | gnomAD v4 |
17 | g.42543779G>C | CA500217355 | NAGLU | c.1773G>C (p.Leu591=) c.1111G>C (n.1111G>C) c.942G>C (p.Leu314=) c.774G>C (p.Leu258=) c.1830G>C (p.Leu610=) | |
17 | g.42543779G>T | CA500217357 | NAGLU | c.1773G>T (p.Leu591=) c.1111G>T (n.1111G>T) c.942G>T (p.Leu314=) c.774G>T (p.Leu258=) c.1830G>T (p.Leu610=) | |
17 | g.42543780T>A | CA399604829 | NAGLU | c.1774T>A (p.Leu592Met) c.1112T>A (n.1112T>A) c.943T>A (p.Leu315Met) c.775T>A (p.Leu259Met) c.1831T>A (p.Leu611Met) | |
17 | g.42543780T>C | CA500217359 | NAGLU | c.1774T>C (p.Leu592=) c.1112T>C (n.1112T>C) c.943T>C (p.Leu315=) c.775T>C (p.Leu259=) c.1831T>C (p.Leu611=) | |
17 | g.42543780T>G | CA399604827 | NAGLU | c.1774T>G (p.Leu592Val) c.1112T>G (n.1112T>G) c.943T>G (p.Leu315Val) c.775T>G (p.Leu259Val) c.1831T>G (p.Leu611Val) | |
17 | g.42543781T>A | CA399604831 | NAGLU | c.1775T>A (p.Leu592Ter) c.1113T>A (n.1113T>A) c.944T>A (p.Leu315Ter) c.776T>A (p.Leu259Ter) c.1832T>A (p.Leu611Ter) | |
17 | g.42543781T>C | CA399604835 | NAGLU | c.1775T>C (p.Leu592Ser) c.1113T>C (n.1113T>C) c.944T>C (p.Leu315Ser) c.776T>C (p.Leu259Ser) c.1832T>C (p.Leu611Ser) | |
17 | g.42543781T>G | CA399604833 | NAGLU | c.1775T>G (p.Leu592Trp) c.1113T>G (n.1113T>G) c.944T>G (p.Leu315Trp) c.776T>G (p.Leu259Trp) c.1832T>G (p.Leu611Trp) | |
17 | g.42543782G>A | CA500217363 | NAGLU | c.1776G>A (p.Leu592=) c.1114G>A (n.1114G>A) c.945G>A (p.Leu315=) c.777G>A (p.Leu259=) c.1833G>A (p.Leu611=) | |
17 | g.42543782G>C | CA399604837 | NAGLU | c.1776G>C (p.Leu592Phe) c.1114G>C (n.1114G>C) c.945G>C (p.Leu315Phe) c.777G>C (p.Leu259Phe) c.1833G>C (p.Leu611Phe) | |
17 | g.42543782G>T | CA399604838 | NAGLU | c.1776G>T (p.Leu592Phe) c.1114G>T (n.1114G>T) c.945G>T (p.Leu315Phe) c.777G>T (p.Leu259Phe) c.1833G>T (p.Leu611Phe) | gnomAD v4 |
17 | g.42543783del | CA2840053603 | NAGLU | c.1777del (p.Arg593GlyfsTer30) c.1115del (n.1115del) c.946del (p.Arg316GlyfsTer30) c.778del (p.Arg260GlyfsTer30) c.1834del (p.Arg612GlyfsTer30) | |
17 | g.42543783A>C | CA500217365 | NAGLU | c.1777A>C (p.Arg593=) c.1115A>C (n.1115A>C) c.946A>C (p.Arg316=) c.778A>C (p.Arg260=) c.1834A>C (p.Arg612=) | |
17 | g.42543783A>G | CA399604840 | NAGLU | c.1777A>G (p.Arg593Gly) c.1115A>G (n.1115A>G) c.946A>G (p.Arg316Gly) c.778A>G (p.Arg260Gly) c.1834A>G (p.Arg612Gly) | |
17 | g.42543783A>T | CA399604842 | NAGLU | c.1777A>T (p.Arg593Trp) c.1115A>T (n.1115A>T) c.946A>T (p.Arg316Trp) c.778A>T (p.Arg260Trp) c.1834A>T (p.Arg612Trp) | |
17 | g.42543784G>A | CA399604844 | NAGLU | c.1778G>A (p.Arg593Lys) c.1116G>A (n.1116G>A) c.947G>A (p.Arg316Lys) c.779G>A (p.Arg260Lys) c.1835G>A (p.Arg612Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543784G>C | CA399604845 | NAGLU | c.1778G>C (p.Arg593Thr) c.1116G>C (n.1116G>C) c.947G>C (p.Arg316Thr) c.779G>C (p.Arg260Thr) c.1835G>C (p.Arg612Thr) | |
17 | g.42543784G= | CA2260530454 | NAGLU | c.1778G= (p.Arg593=) c.1116G= (n.1116G=) c.947G= (p.Arg316=) c.779G= (p.Arg260=) c.1835G= (p.Arg612=) | |
17 | g.42543784G>T | CA399604847 | NAGLU | c.1778G>T (p.Arg593Met) c.1116G>T (n.1116G>T) c.947G>T (p.Arg316Met) c.779G>T (p.Arg260Met) c.1835G>T (p.Arg612Met) | |
17 | g.42543785G>A | CA500217372 | NAGLU | c.1779G>A (p.Arg593=) c.1117G>A (n.1117G>A) c.948G>A (p.Arg316=) c.780G>A (p.Arg260=) c.1836G>A (p.Arg612=) | ClinVar dbSNP |
17 | g.42543785G>C | CA399604849 | NAGLU | c.1779G>C (p.Arg593Ser) c.1117G>C (n.1117G>C) c.948G>C (p.Arg316Ser) c.780G>C (p.Arg260Ser) c.1836G>C (p.Arg612Ser) | |
17 | g.42543785G>T | CA399604851 | NAGLU | c.1779G>T (p.Arg593Ser) c.1117G>T (n.1117G>T) c.948G>T (p.Arg316Ser) c.780G>T (p.Arg260Ser) c.1836G>T (p.Arg612Ser) | |
17 | g.42543786G>A | CA399604853 | NAGLU | c.1780G>A (p.Ala594Thr) c.1118G>A (n.1118G>A) c.949G>A (p.Ala317Thr) c.781G>A (p.Ala261Thr) c.1837G>A (p.Ala613Thr) | gnomAD v4 |
17 | g.42543786G>C | CA399604855 | NAGLU | c.1780G>C (p.Ala594Pro) c.1118G>C (n.1118G>C) c.949G>C (p.Ala317Pro) c.781G>C (p.Ala261Pro) c.1837G>C (p.Ala613Pro) | |
17 | g.42543786G>T | CA399604856 | NAGLU | c.1780G>T (p.Ala594Ser) c.1118G>T (n.1118G>T) c.949G>T (p.Ala317Ser) c.781G>T (p.Ala261Ser) c.1837G>T (p.Ala613Ser) | gnomAD v4 |
17 | g.42543787C>A | CA399604861 | NAGLU | c.1781C>A (p.Ala594Asp) c.1119C>A (n.1119C>A) c.950C>A (p.Ala317Asp) c.782C>A (p.Ala261Asp) c.1838C>A (p.Ala613Asp) | |
17 | g.42543787C= | CA2260530455 | NAGLU | c.1781C= (p.Ala594=) c.1119C= (n.1119C=) c.950C= (p.Ala317=) c.782C= (p.Ala261=) c.1838C= (p.Ala613=) | |
17 | g.42543787C>G | CA399604860 | NAGLU | c.1781C>G (p.Ala594Gly) c.1119C>G (n.1119C>G) c.950C>G (p.Ala317Gly) c.782C>G (p.Ala261Gly) c.1838C>G (p.Ala613Gly) | |
17 | g.42543787C>T | CA10650160 | NAGLU | c.1781C>T (p.Ala594Val) c.1119C>T (n.1119C>T) c.950C>T (p.Ala317Val) c.782C>T (p.Ala261Val) c.1838C>T (p.Ala613Val) | ClinVar dbSNP gnomAD v4 |
17 | g.42543788T>A | CA8577089 | NAGLU | c.1782T>A (p.Ala594=) c.1120T>A (n.1120T>A) c.951T>A (p.Ala317=) c.783T>A (p.Ala261=) c.1839T>A (p.Ala613=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543788T>C | CA500217378 | NAGLU | c.1782T>C (p.Ala594=) c.1120T>C (n.1120T>C) c.951T>C (p.Ala317=) c.783T>C (p.Ala261=) c.1839T>C (p.Ala613=) | |
17 | g.42543788T>G | CA500217377 | NAGLU | c.1782T>G (p.Ala594=) c.1120T>G (n.1120T>G) c.951T>G (p.Ala317=) c.783T>G (p.Ala261=) c.1839T>G (p.Ala613=) | |
17 | g.42543788T= | CA2260530456 | NAGLU | c.1782T= (p.Ala594=) c.1120T= (n.1120T=) c.951T= (p.Ala317=) c.783T= (p.Ala261=) c.1839T= (p.Ala613=) | |
17 | g.42543789G>A | CA8577090 | NAGLU | c.1783G>A (p.Gly595Arg) c.1121G>A (n.1121G>A) c.952G>A (p.Gly318Arg) c.784G>A (p.Gly262Arg) c.1840G>A (p.Gly614Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42543789G>C | CA399604865 | NAGLU | c.1783G>C (p.Gly595Arg) c.1121G>C (n.1121G>C) c.952G>C (p.Gly318Arg) c.784G>C (p.Gly262Arg) c.1840G>C (p.Gly614Arg) | |
17 | g.42543789G= | CA2260530457 | NAGLU | c.1783G= (p.Gly595=) c.1121G= (n.1121G=) c.952G= (p.Gly318=) c.784G= (p.Gly262=) c.1840G= (p.Gly614=) | |
17 | g.42543789G>T | CA399604867 | NAGLU | c.1783G>T (p.Gly595Ter) c.1121G>T (n.1121G>T) c.952G>T (p.Gly318Ter) c.784G>T (p.Gly262Ter) c.1840G>T (p.Gly614Ter) | |
17 | g.42543790del | CA2839131444 | NAGLU | c.1784del (p.Gly595GlufsTer28) c.1122del (n.1122del) c.953del (p.Gly318GlufsTer28) c.785del (p.Gly262GlufsTer28) c.1841del (p.Gly614GlufsTer28) | |
17 | g.42543790G>A | CA399604869 | NAGLU | c.1784G>A (p.Gly595Glu) c.1122G>A (n.1122G>A) c.953G>A (p.Gly318Glu) c.785G>A (p.Gly262Glu) c.1841G>A (p.Gly614Glu) | |
17 | g.42543790G>C | CA399604871 | NAGLU | c.1784G>C (p.Gly595Ala) c.1122G>C (n.1122G>C) c.953G>C (p.Gly318Ala) c.785G>C (p.Gly262Ala) c.1841G>C (p.Gly614Ala) | |
17 | g.42543790G= | CA2260530458 | NAGLU | c.1784G= (p.Gly595=) c.1122G= (n.1122G=) c.953G= (p.Gly318=) c.785G= (p.Gly262=) c.1841G= (p.Gly614=) | |
17 | g.42543790G>T | CA399604873 | NAGLU | c.1784G>T (p.Gly595Val) c.1122G>T (n.1122G>T) c.953G>T (p.Gly318Val) c.785G>T (p.Gly262Val) c.1841G>T (p.Gly614Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543791A= | CA2260530459 | NAGLU | c.1785A= (p.Gly595=) c.1123A= (n.1123A=) c.954A= (p.Gly318=) c.786A= (p.Gly262=) c.1842A= (p.Gly614=) | |
17 | g.42543791A>C | CA500217387 | NAGLU | c.1785A>C (p.Gly595=) c.1123A>C (n.1123A>C) c.954A>C (p.Gly318=) c.786A>C (p.Gly262=) c.1842A>C (p.Gly614=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543791A>G | CA500217386 | NAGLU | c.1785A>G (p.Gly595=) c.1123A>G (n.1123A>G) c.954A>G (p.Gly318=) c.786A>G (p.Gly262=) c.1842A>G (p.Gly614=) | gnomAD v4 |
17 | g.42543791A>T | CA500217385 | NAGLU | c.1785A>T (p.Gly595=) c.1123A>T (n.1123A>T) c.954A>T (p.Gly318=) c.786A>T (p.Gly262=) c.1842A>T (p.Gly614=) | |
17 | g.42543792G>A | CA399604875 | NAGLU | c.1786G>A (p.Gly596Ser) c.1124G>A (n.1124G>A) c.955G>A (p.Gly319Ser) c.787G>A (p.Gly263Ser) c.1843G>A (p.Gly615Ser) | |
17 | g.42543792G>C | CA399604877 | NAGLU | c.1786G>C (p.Gly596Arg) c.1124G>C (n.1124G>C) c.955G>C (p.Gly319Arg) c.787G>C (p.Gly263Arg) c.1843G>C (p.Gly615Arg) | |
17 | g.42543792G= | CA2260530460 | NAGLU | c.1786G= (p.Gly596=) c.1124G= (n.1124G=) c.955G= (p.Gly319=) c.787G= (p.Gly263=) c.1843G= (p.Gly615=) | |
17 | g.42543792G>T | CA8577091 | NAGLU | c.1786G>T (p.Gly596Cys) c.1124G>T (n.1124G>T) c.955G>T (p.Gly319Cys) c.787G>T (p.Gly263Cys) c.1843G>T (p.Gly615Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |