Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
17 | g.42543793G>A | CA399604880 | NAGLU | c.1787G>A (p.Gly596Asp) c.1125G>A (n.1125G>A) c.956G>A (p.Gly319Asp) c.788G>A (p.Gly263Asp) c.1844G>A (p.Gly615Asp) | dbSNP gnomAD v2 COSMIC |
17 | g.42543793G>C | CA399604881 | NAGLU | c.1787G>C (p.Gly596Ala) c.1125G>C (n.1125G>C) c.956G>C (p.Gly319Ala) c.788G>C (p.Gly263Ala) c.1844G>C (p.Gly615Ala) | |
17 | g.42543793G= | CA2260530461 | NAGLU | c.1787G= (p.Gly596=) c.1125G= (n.1125G=) c.956G= (p.Gly319=) c.788G= (p.Gly263=) c.1844G= (p.Gly615=) | |
17 | g.42543793G>T | CA399604883 | NAGLU | c.1787G>T (p.Gly596Val) c.1125G>T (n.1125G>T) c.956G>T (p.Gly319Val) c.788G>T (p.Gly263Val) c.1844G>T (p.Gly615Val) | |
17 | g.42543794C>A | CA500217395 | NAGLU | c.1788C>A (p.Gly596=) c.1126C>A (n.1126C>A) c.957C>A (p.Gly319=) c.789C>A (p.Gly263=) c.1845C>A (p.Gly615=) | gnomAD v4 |
17 | g.42543794C= | CA2260530462 | NAGLU | c.1788C= (p.Gly596=) c.1126C= (n.1126C=) c.957C= (p.Gly319=) c.789C= (p.Gly263=) c.1845C= (p.Gly615=) | |
17 | g.42543794C>G | CA8577093 | NAGLU | c.1788C>G (p.Gly596=) c.1126C>G (n.1126C>G) c.957C>G (p.Gly319=) c.789C>G (p.Gly263=) c.1845C>G (p.Gly615=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42543794C>T | CA8577092 | NAGLU | c.1788C>T (p.Gly596=) c.1126C>T (n.1126C>T) c.957C>T (p.Gly319=) c.789C>T (p.Gly263=) c.1845C>T (p.Gly615=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543795G>A | CA8577094 | NAGLU | c.1789G>A (p.Val597Ile) c.1127G>A (n.1127G>A) c.958G>A (p.Val320Ile) c.790G>A (p.Val264Ile) c.1846G>A (p.Val616Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543795G>C | CA8577095 | NAGLU | c.1789G>C (p.Val597Leu) c.1127G>C (n.1127G>C) c.958G>C (p.Val320Leu) c.790G>C (p.Val264Leu) c.1846G>C (p.Val616Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543795G= | CA2260530463 | NAGLU | c.1789G= (p.Val597=) c.1127G= (n.1127G=) c.958G= (p.Val320=) c.790G= (p.Val264=) c.1846G= (p.Val616=) | |
17 | g.42543795G>T | CA399604890 | NAGLU | c.1789G>T (p.Val597Phe) c.1127G>T (n.1127G>T) c.958G>T (p.Val320Phe) c.790G>T (p.Val264Phe) c.1846G>T (p.Val616Phe) | gnomAD v4 |
17 | g.42543796T>A | CA399604892 | NAGLU | c.1790T>A (p.Val597Asp) c.1128T>A (n.1128T>A) c.959T>A (p.Val320Asp) c.791T>A (p.Val264Asp) c.1847T>A (p.Val616Asp) | |
17 | g.42543796T>C | CA399604893 | NAGLU | c.1790T>C (p.Val597Ala) c.1128T>C (n.1128T>C) c.959T>C (p.Val320Ala) c.791T>C (p.Val264Ala) c.1847T>C (p.Val616Ala) | |
17 | g.42543796T>G | CA399604895 | NAGLU | c.1790T>G (p.Val597Gly) c.1128T>G (n.1128T>G) c.959T>G (p.Val320Gly) c.791T>G (p.Val264Gly) c.1847T>G (p.Val616Gly) | |
17 | g.42543797C>A | CA500217421 | NAGLU | c.1791C>A (p.Val597=) c.1129C>A (n.1129C>A) c.960C>A (p.Val320=) c.792C>A (p.Val264=) c.1848C>A (p.Val616=) | |
17 | g.42543797C>G | CA500217423 | NAGLU | c.1791C>G (p.Val597=) c.1129C>G (n.1129C>G) c.960C>G (p.Val320=) c.792C>G (p.Val264=) c.1848C>G (p.Val616=) | |
17 | g.42543797C>T | CA500217424 | NAGLU | c.1791C>T (p.Val597=) c.1129C>T (n.1129C>T) c.960C>T (p.Val320=) c.792C>T (p.Val264=) c.1848C>T (p.Val616=) | |
17 | g.42543798C>A | CA399604898 | NAGLU | c.1792C>A (p.Leu598Met) c.1130C>A (n.1130C>A) c.961C>A (p.Leu321Met) c.793C>A (p.Leu265Met) c.1849C>A (p.Leu617Met) | gnomAD v4 |
17 | g.42543798C>G | CA399604899 | NAGLU | c.1792C>G (p.Leu598Val) c.1130C>G (n.1130C>G) c.961C>G (p.Leu321Val) c.793C>G (p.Leu265Val) c.1849C>G (p.Leu617Val) | |
17 | g.42543798C>T | CA500217426 | NAGLU | c.1792C>T (p.Leu598=) c.1130C>T (n.1130C>T) c.961C>T (p.Leu321=) c.793C>T (p.Leu265=) c.1849C>T (p.Leu617=) | gnomAD v4 |
17 | g.42543799T>A | CA399604902 | NAGLU | c.1793T>A (p.Leu598Gln) c.1131T>A (n.1131T>A) c.962T>A (p.Leu321Gln) c.794T>A (p.Leu265Gln) c.1850T>A (p.Leu617Gln) | |
17 | g.42543799T>C | CA399604905 | NAGLU | c.1793T>C (p.Leu598Pro) c.1131T>C (n.1131T>C) c.962T>C (p.Leu321Pro) c.794T>C (p.Leu265Pro) c.1850T>C (p.Leu617Pro) | gnomAD v4 |
17 | g.42543799T>G | CA399604904 | NAGLU | c.1793T>G (p.Leu598Arg) c.1131T>G (n.1131T>G) c.962T>G (p.Leu321Arg) c.794T>G (p.Leu265Arg) c.1850T>G (p.Leu617Arg) | |
17 | g.42543800G>A | CA8577096 | NAGLU | c.1794G>A (p.Leu598=) c.1132G>A (n.1132G>A) c.963G>A (p.Leu321=) c.795G>A (p.Leu265=) c.1851G>A (p.Leu617=) | ClinVar dbSNP ExAC gnomAD v2 |
17 | g.42543800G>C | CA500217450 | NAGLU | c.1794G>C (p.Leu598=) c.1132G>C (n.1132G>C) c.963G>C (p.Leu321=) c.795G>C (p.Leu265=) c.1851G>C (p.Leu617=) | |
17 | g.42543800G= | CA2260530464 | NAGLU | c.1794G= (p.Leu598=) c.1132G= (n.1132G=) c.963G= (p.Leu321=) c.795G= (p.Leu265=) c.1851G= (p.Leu617=) | |
17 | g.42543800G>T | CA500217445 | NAGLU | c.1794G>T (p.Leu598=) c.1132G>T (n.1132G>T) c.963G>T (p.Leu321=) c.795G>T (p.Leu265=) c.1851G>T (p.Leu617=) | |
17 | g.42543801G>A | CA399604906 | NAGLU | c.1795G>A (p.Ala599Thr) c.1133G>A (n.1133G>A) c.964G>A (p.Ala322Thr) c.796G>A (p.Ala266Thr) c.1852G>A (p.Ala618Thr) | |
17 | g.42543801G>C | CA399604907 | NAGLU | c.1795G>C (p.Ala599Pro) c.1133G>C (n.1133G>C) c.964G>C (p.Ala322Pro) c.796G>C (p.Ala266Pro) c.1852G>C (p.Ala618Pro) | |
17 | g.42543801G>T | CA399604908 | NAGLU | c.1795G>T (p.Ala599Ser) c.1133G>T (n.1133G>T) c.964G>T (p.Ala322Ser) c.796G>T (p.Ala266Ser) c.1852G>T (p.Ala618Ser) | |
17 | g.42543802C>A | CA399604909 | NAGLU | c.1796C>A (p.Ala599Asp) c.1134C>A (n.1134C>A) c.965C>A (p.Ala322Asp) c.797C>A (p.Ala266Asp) c.1853C>A (p.Ala618Asp) | gnomAD v4 |
17 | g.42543802C= | CA2260530465 | NAGLU | c.1796C= (p.Ala599=) c.1134C= (n.1134C=) c.965C= (p.Ala322=) c.797C= (p.Ala266=) c.1853C= (p.Ala618=) | |
17 | g.42543802C>G | CA399604911 | NAGLU | c.1796C>G (p.Ala599Gly) c.1134C>G (n.1134C>G) c.965C>G (p.Ala322Gly) c.797C>G (p.Ala266Gly) c.1853C>G (p.Ala618Gly) | |
17 | g.42543802C>T | CA399604910 | NAGLU | c.1796C>T (p.Ala599Val) c.1134C>T (n.1134C>T) c.965C>T (p.Ala322Val) c.797C>T (p.Ala266Val) c.1853C>T (p.Ala618Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543803C>A | CA500217474 | NAGLU | c.1797C>A (p.Ala599=) c.1135C>A (n.1135C>A) c.966C>A (p.Ala322=) c.798C>A (p.Ala266=) c.1854C>A (p.Ala618=) | |
17 | g.42543803C= | CA2260530466 | NAGLU | c.1797C= (p.Ala599=) c.1135C= (n.1135C=) c.966C= (p.Ala322=) c.798C= (p.Ala266=) c.1854C= (p.Ala618=) | |
17 | g.42543803C>G | CA8577097 | NAGLU | c.1797C>G (p.Ala599=) c.1135C>G (n.1135C>G) c.966C>G (p.Ala322=) c.798C>G (p.Ala266=) c.1854C>G (p.Ala618=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543803C>T | CA500217472 | NAGLU | c.1797C>T (p.Ala599=) c.1135C>T (n.1135C>T) c.966C>T (p.Ala322=) c.798C>T (p.Ala266=) c.1854C>T (p.Ala618=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543804T>A | CA399604912 | NAGLU | c.1798T>A (p.Tyr600Asn) c.1136T>A (n.1136T>A) c.967T>A (p.Tyr323Asn) c.799T>A (p.Tyr267Asn) c.1855T>A (p.Tyr619Asn) | |
17 | g.42543804T>C | CA399604913 | NAGLU | c.1798T>C (p.Tyr600His) c.1136T>C (n.1136T>C) c.967T>C (p.Tyr323His) c.799T>C (p.Tyr267His) c.1855T>C (p.Tyr619His) | |
17 | g.42543804T>G | CA399604914 | NAGLU | c.1798T>G (p.Tyr600Asp) c.1136T>G (n.1136T>G) c.967T>G (p.Tyr323Asp) c.799T>G (p.Tyr267Asp) c.1855T>G (p.Tyr619Asp) | |
17 | g.42543805A= | CA2260530467 | NAGLU | c.1799A= (p.Tyr600=) c.1137A= (n.1137A=) c.968A= (p.Tyr323=) c.800A= (p.Tyr267=) c.1856A= (p.Tyr619=) | |
17 | g.42543805A>C | CA399604915 | NAGLU | c.1799A>C (p.Tyr600Ser) c.1137A>C (n.1137A>C) c.968A>C (p.Tyr323Ser) c.800A>C (p.Tyr267Ser) c.1856A>C (p.Tyr619Ser) | |
17 | g.42543805A>G | CA399604916 | NAGLU | c.1799A>G (p.Tyr600Cys) c.1137A>G (n.1137A>G) c.968A>G (p.Tyr323Cys) c.800A>G (p.Tyr267Cys) c.1856A>G (p.Tyr619Cys) | dbSNP gnomAD v4 |
17 | g.42543805A>T | CA399604917 | NAGLU | c.1799A>T (p.Tyr600Phe) c.1137A>T (n.1137A>T) c.968A>T (p.Tyr323Phe) c.800A>T (p.Tyr267Phe) c.1856A>T (p.Tyr619Phe) | |
17 | g.42543806T>A | CA399604918 | NAGLU | c.1800T>A (p.Tyr600Ter) c.1138T>A (n.1138T>A) c.969T>A (p.Tyr323Ter) c.801T>A (p.Tyr267Ter) c.1857T>A (p.Tyr619Ter) | |
17 | g.42543806T>C | CA500217509 | NAGLU | c.1800T>C (p.Tyr600=) c.1138T>C (n.1138T>C) c.969T>C (p.Tyr323=) c.801T>C (p.Tyr267=) c.1857T>C (p.Tyr619=) | |
17 | g.42543806T>G | CA399604919 | NAGLU | c.1800T>G (p.Tyr600Ter) c.1138T>G (n.1138T>G) c.969T>G (p.Tyr323Ter) c.801T>G (p.Tyr267Ter) c.1857T>G (p.Tyr619Ter) | |
17 | g.42543806T= | CA2260530468 | NAGLU | c.1800T= (p.Tyr600=) c.1138T= (n.1138T=) c.969T= (p.Tyr323=) c.801T= (p.Tyr267=) c.1857T= (p.Tyr619=) | |
17 | g.42543807G>A | CA399604920 | NAGLU | c.1801G>A (p.Glu601Lys) c.1139G>A (n.1139G>A) c.970G>A (p.Glu324Lys) c.802G>A (p.Glu268Lys) c.1858G>A (p.Glu620Lys) | gnomAD v4 |
17 | g.42543807G>C | CA399604921 | NAGLU | c.1801G>C (p.Glu601Gln) c.1139G>C (n.1139G>C) c.970G>C (p.Glu324Gln) c.802G>C (p.Glu268Gln) c.1858G>C (p.Glu620Gln) | |
17 | g.42543807G>T | CA399604922 | NAGLU | c.1801G>T (p.Glu601Ter) c.1139G>T (n.1139G>T) c.970G>T (p.Glu324Ter) c.802G>T (p.Glu268Ter) c.1858G>T (p.Glu620Ter) | |
17 | g.42543809_42543826dup | CA626218629 | NAGLU | c.1803_1820dup (p.Leu606_Asp607insGluLeuLeuProAlaLeu) c.1141_1158dup (n.1141_1158dup) c.972_989dup (p.Leu329_Asp330insGluLeuLeuProAlaLeu) c.804_821dup (p.Leu273_Asp274insGluLeuLeuProAlaLeu) c.1860_1877dup (p.Leu625_Asp626insGluLeuLeuProAlaLeu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543808A>C | CA399604924 | NAGLU | c.1802A>C (p.Glu601Ala) c.1140A>C (n.1140A>C) c.971A>C (p.Glu324Ala) c.803A>C (p.Glu268Ala) c.1859A>C (p.Glu620Ala) | |
17 | g.42543808A>G | CA399604925 | NAGLU | c.1802A>G (p.Glu601Gly) c.1140A>G (n.1140A>G) c.971A>G (p.Glu324Gly) c.803A>G (p.Glu268Gly) c.1859A>G (p.Glu620Gly) | gnomAD v4 |
17 | g.42543808A>T | CA399604923 | NAGLU | c.1802A>T (p.Glu601Val) c.1140A>T (n.1140A>T) c.971A>T (p.Glu324Val) c.803A>T (p.Glu268Val) c.1859A>T (p.Glu620Val) | |
17 | g.42543809G>A | CA8577098 | NAGLU | c.1803G>A (p.Glu601=) c.1141G>A (n.1141G>A) c.972G>A (p.Glu324=) c.804G>A (p.Glu268=) c.1860G>A (p.Glu620=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42543809G>C | CA399604926 | NAGLU | c.1803G>C (p.Glu601Asp) c.1141G>C (n.1141G>C) c.972G>C (p.Glu324Asp) c.804G>C (p.Glu268Asp) c.1860G>C (p.Glu620Asp) | |
17 | g.42543809G= | CA2260530469 | NAGLU | c.1803G= (p.Glu601=) c.1141G= (n.1141G=) c.972G= (p.Glu324=) c.804G= (p.Glu268=) c.1860G= (p.Glu620=) | |
17 | g.42543809G>T | CA399604927 | NAGLU | c.1803G>T (p.Glu601Asp) c.1141G>T (n.1141G>T) c.972G>T (p.Glu324Asp) c.804G>T (p.Glu268Asp) c.1860G>T (p.Glu620Asp) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543810C>A | CA399604928 | NAGLU | c.1804C>A (p.Leu602Met) c.1142C>A (n.1142C>A) c.973C>A (p.Leu325Met) c.805C>A (p.Leu269Met) c.1861C>A (p.Leu621Met) | ClinVar gnomAD v4 |
17 | g.42543810C>G | CA399604929 | NAGLU | c.1804C>G (p.Leu602Val) c.1142C>G (n.1142C>G) c.973C>G (p.Leu325Val) c.805C>G (p.Leu269Val) c.1861C>G (p.Leu621Val) | gnomAD v4 |
17 | g.42543810C>T | CA500217535 | NAGLU | c.1804C>T (p.Leu602=) c.1142C>T (n.1142C>T) c.973C>T (p.Leu325=) c.805C>T (p.Leu269=) c.1861C>T (p.Leu621=) | |
17 | g.42543811T>A | CA399604930 | NAGLU | c.1805T>A (p.Leu602Gln) c.1143T>A (n.1143T>A) c.974T>A (p.Leu325Gln) c.806T>A (p.Leu269Gln) c.1862T>A (p.Leu621Gln) | |
17 | g.42543811T>C | CA399604934 | NAGLU | c.1805T>C (p.Leu602Pro) c.1143T>C (n.1143T>C) c.974T>C (p.Leu325Pro) c.806T>C (p.Leu269Pro) c.1862T>C (p.Leu621Pro) | |
17 | g.42543811T>G | CA399604932 | NAGLU | c.1805T>G (p.Leu602Arg) c.1143T>G (n.1143T>G) c.974T>G (p.Leu325Arg) c.806T>G (p.Leu269Arg) c.1862T>G (p.Leu621Arg) | |
17 | g.42543812G>A | CA500217563 | NAGLU | c.1806G>A (p.Leu602=) c.1144G>A (n.1144G>A) c.975G>A (p.Leu325=) c.807G>A (p.Leu269=) c.1863G>A (p.Leu621=) | ClinVar dbSNP |
17 | g.42543812G>C | CA500217565 | NAGLU | c.1806G>C (p.Leu602=) c.1144G>C (n.1144G>C) c.975G>C (p.Leu325=) c.807G>C (p.Leu269=) c.1863G>C (p.Leu621=) | |
17 | g.42543812G>T | CA500217569 | NAGLU | c.1806G>T (p.Leu602=) c.1144G>T (n.1144G>T) c.975G>T (p.Leu325=) c.807G>T (p.Leu269=) c.1863G>T (p.Leu621=) | |
17 | g.42543813C>A | CA399604935 | NAGLU | c.1807C>A (p.Leu603Met) c.1145C>A (n.1145C>A) c.976C>A (p.Leu326Met) c.808C>A (p.Leu270Met) c.1864C>A (p.Leu622Met) | |
17 | g.42543813C>G | CA399604936 | NAGLU | c.1807C>G (p.Leu603Val) c.1145C>G (n.1145C>G) c.976C>G (p.Leu326Val) c.808C>G (p.Leu270Val) c.1864C>G (p.Leu622Val) | |
17 | g.42543813C>T | CA500217576 | NAGLU | c.1807C>T (p.Leu603=) c.1145C>T (n.1145C>T) c.976C>T (p.Leu326=) c.808C>T (p.Leu270=) c.1864C>T (p.Leu622=) | |
17 | g.42543814T>A | CA399604940 | NAGLU | c.1808T>A (p.Leu603Gln) c.1146T>A (n.1146T>A) c.977T>A (p.Leu326Gln) c.809T>A (p.Leu270Gln) c.1865T>A (p.Leu622Gln) | |
17 | g.42543814T>C | CA399604941 | NAGLU | c.1808T>C (p.Leu603Pro) c.1146T>C (n.1146T>C) c.977T>C (p.Leu326Pro) c.809T>C (p.Leu270Pro) c.1865T>C (p.Leu622Pro) | |
17 | g.42543814T>G | CA399604942 | NAGLU | c.1808T>G (p.Leu603Arg) c.1146T>G (n.1146T>G) c.977T>G (p.Leu326Arg) c.809T>G (p.Leu270Arg) c.1865T>G (p.Leu622Arg) | |
17 | g.42543815G>A | CA500217590 | NAGLU | c.1809G>A (p.Leu603=) c.1147G>A (n.1147G>A) c.978G>A (p.Leu326=) c.810G>A (p.Leu270=) c.1866G>A (p.Leu622=) | dbSNP gnomAD v2 |
17 | g.42543815G>C | CA500217593 | NAGLU | c.1809G>C (p.Leu603=) c.1147G>C (n.1147G>C) c.978G>C (p.Leu326=) c.810G>C (p.Leu270=) c.1866G>C (p.Leu622=) | |
17 | g.42543815G= | CA2260530470 | NAGLU | c.1809G= (p.Leu603=) c.1147G= (n.1147G=) c.978G= (p.Leu326=) c.810G= (p.Leu270=) c.1866G= (p.Leu622=) | |
17 | g.42543815G>T | CA500217588 | NAGLU | c.1809G>T (p.Leu603=) c.1147G>T (n.1147G>T) c.978G>T (p.Leu326=) c.810G>T (p.Leu270=) c.1866G>T (p.Leu622=) | gnomAD v4 |
17 | g.42543816C>A | CA399604945 | NAGLU | c.1810C>A (p.Pro604Thr) c.1148C>A (n.1148C>A) c.979C>A (p.Pro327Thr) c.811C>A (p.Pro271Thr) c.1867C>A (p.Pro623Thr) | gnomAD v4 |
17 | g.42543816C= | CA2260530471 | NAGLU | c.1810C= (p.Pro604=) c.1148C= (n.1148C=) c.979C= (p.Pro327=) c.811C= (p.Pro271=) c.1867C= (p.Pro623=) | |
17 | g.42543816C>G | CA399604947 | NAGLU | c.1810C>G (p.Pro604Ala) c.1148C>G (n.1148C>G) c.979C>G (p.Pro327Ala) c.811C>G (p.Pro271Ala) c.1867C>G (p.Pro623Ala) | |
17 | g.42543816C>T | CA399604948 | NAGLU | c.1810C>T (p.Pro604Ser) c.1148C>T (n.1148C>T) c.979C>T (p.Pro327Ser) c.811C>T (p.Pro271Ser) c.1867C>T (p.Pro623Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543817C>A | CA399604951 | NAGLU | c.1811C>A (p.Pro604Gln) c.1149C>A (n.1149C>A) c.980C>A (p.Pro327Gln) c.812C>A (p.Pro271Gln) c.1868C>A (p.Pro623Gln) | gnomAD v4 |
17 | g.42543817C= | CA2260530472 | NAGLU | c.1811C= (p.Pro604=) c.1149C= (n.1149C=) c.980C= (p.Pro327=) c.812C= (p.Pro271=) c.1868C= (p.Pro623=) | |
17 | g.42543817C>G | CA399604953 | NAGLU | c.1811C>G (p.Pro604Arg) c.1149C>G (n.1149C>G) c.980C>G (p.Pro327Arg) c.812C>G (p.Pro271Arg) c.1868C>G (p.Pro623Arg) | |
17 | g.42543817C>T | CA8577099 | NAGLU | c.1811C>T (p.Pro604Leu) c.1149C>T (n.1149C>T) c.980C>T (p.Pro327Leu) c.812C>T (p.Pro271Leu) c.1868C>T (p.Pro623Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543818G>A | CA8577101 | NAGLU | c.1812G>A (p.Pro604=) c.1150G>A (n.1150G>A) c.981G>A (p.Pro327=) c.813G>A (p.Pro271=) c.1869G>A (p.Pro623=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543818G>C | CA8577100 | NAGLU | c.1812G>C (p.Pro604=) c.1150G>C (n.1150G>C) c.981G>C (p.Pro327=) c.813G>C (p.Pro271=) c.1869G>C (p.Pro623=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42543818G= | CA2260530473 | NAGLU | c.1812G= (p.Pro604=) c.1150G= (n.1150G=) c.981G= (p.Pro327=) c.813G= (p.Pro271=) c.1869G= (p.Pro623=) | |
17 | g.42543818G>T | CA500217614 | NAGLU | c.1812G>T (p.Pro604=) c.1150G>T (n.1150G>T) c.981G>T (p.Pro327=) c.813G>T (p.Pro271=) c.1869G>T (p.Pro623=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543819G>A | CA399604957 | NAGLU | c.1813G>A (p.Ala605Thr) c.1151G>A (n.1151G>A) c.982G>A (p.Ala328Thr) c.814G>A (p.Ala272Thr) c.1870G>A (p.Ala624Thr) | gnomAD v4 |
17 | g.42543819G>C | CA399604958 | NAGLU | c.1813G>C (p.Ala605Pro) c.1151G>C (n.1151G>C) c.982G>C (p.Ala328Pro) c.814G>C (p.Ala272Pro) c.1870G>C (p.Ala624Pro) | |
17 | g.42543819G>T | CA399604960 | NAGLU | c.1813G>T (p.Ala605Ser) c.1151G>T (n.1151G>T) c.982G>T (p.Ala328Ser) c.814G>T (p.Ala272Ser) c.1870G>T (p.Ala624Ser) | |
17 | g.42543820C>A | CA399604963 | NAGLU | c.1814C>A (p.Ala605Glu) c.1152C>A (n.1152C>A) c.983C>A (p.Ala328Glu) c.815C>A (p.Ala272Glu) c.1871C>A (p.Ala624Glu) | gnomAD v4 |
17 | g.42543820C>G | CA399604964 | NAGLU | c.1814C>G (p.Ala605Gly) c.1152C>G (n.1152C>G) c.983C>G (p.Ala328Gly) c.815C>G (p.Ala272Gly) c.1871C>G (p.Ala624Gly) | |
17 | g.42543820C>T | CA399604966 | NAGLU | c.1814C>T (p.Ala605Val) c.1152C>T (n.1152C>T) c.983C>T (p.Ala328Val) c.815C>T (p.Ala272Val) c.1871C>T (p.Ala624Val) | gnomAD v4 |
17 | g.42543821_42543827dup | CA2573153975 | NAGLU | c.1815_1821dup (p.Glu608ThrfsTer7) c.1153_1159dup (n.1153_1159dup) c.984_990dup (p.Glu331ThrfsTer7) c.816_822dup (p.Glu275ThrfsTer7) c.1872_1878dup (p.Glu627ThrfsTer7) | ClinVar dbSNP |
17 | g.42543821A>C | CA500217638 | NAGLU | c.1815A>C (p.Ala605=) c.1153A>C (n.1153A>C) c.984A>C (p.Ala328=) c.816A>C (p.Ala272=) c.1872A>C (p.Ala624=) | |
17 | g.42543821A>G | CA500217635 | NAGLU | c.1815A>G (p.Ala605=) c.1153A>G (n.1153A>G) c.984A>G (p.Ala328=) c.816A>G (p.Ala272=) c.1872A>G (p.Ala624=) | ClinVar |
17 | g.42543821A>T | CA500217640 | NAGLU | c.1815A>T (p.Ala605=) c.1153A>T (n.1153A>T) c.984A>T (p.Ala328=) c.816A>T (p.Ala272=) c.1872A>T (p.Ala624=) | |
17 | g.42543822C>A | CA399604968 | NAGLU | c.1816C>A (p.Leu606Met) c.1154C>A (n.1154C>A) c.985C>A (p.Leu329Met) c.817C>A (p.Leu273Met) c.1873C>A (p.Leu625Met) | |
17 | g.42543822C>G | CA399604969 | NAGLU | c.1816C>G (p.Leu606Val) c.1154C>G (n.1154C>G) c.985C>G (p.Leu329Val) c.817C>G (p.Leu273Val) c.1873C>G (p.Leu625Val) | |
17 | g.42543822C>T | CA500217645 | NAGLU | c.1816C>T (p.Leu606=) c.1154C>T (n.1154C>T) c.985C>T (p.Leu329=) c.817C>T (p.Leu273=) c.1873C>T (p.Leu625=) | |
17 | g.42543823T>A | CA399604970 | NAGLU | c.1817T>A (p.Leu606Gln) c.1155T>A (n.1155T>A) c.986T>A (p.Leu329Gln) c.818T>A (p.Leu273Gln) c.1874T>A (p.Leu625Gln) | |
17 | g.42543823T>C | CA399604972 | NAGLU | c.1817T>C (p.Leu606Pro) c.1155T>C (n.1155T>C) c.986T>C (p.Leu329Pro) c.818T>C (p.Leu273Pro) c.1874T>C (p.Leu625Pro) | dbSNP gnomAD v4 |
17 | g.42543823T>G | CA399604974 | NAGLU | c.1817T>G (p.Leu606Arg) c.1155T>G (n.1155T>G) c.986T>G (p.Leu329Arg) c.818T>G (p.Leu273Arg) c.1874T>G (p.Leu625Arg) | |
17 | g.42543823T= | CA2260530474 | NAGLU | c.1817T= (p.Leu606=) c.1155T= (n.1155T=) c.986T= (p.Leu329=) c.818T= (p.Leu273=) c.1874T= (p.Leu625=) | |
17 | g.42543824G>A | CA500217661 | NAGLU | c.1818G>A (p.Leu606=) c.1156G>A (n.1156G>A) c.987G>A (p.Leu329=) c.819G>A (p.Leu273=) c.1875G>A (p.Leu625=) | |
17 | g.42543824G>C | CA500217666 | NAGLU | c.1818G>C (p.Leu606=) c.1156G>C (n.1156G>C) c.987G>C (p.Leu329=) c.819G>C (p.Leu273=) c.1875G>C (p.Leu625=) | |
17 | g.42543824G>T | CA500217662 | NAGLU | c.1818G>T (p.Leu606=) c.1156G>T (n.1156G>T) c.987G>T (p.Leu329=) c.819G>T (p.Leu273=) c.1875G>T (p.Leu625=) | |
17 | g.42543825dup | CA2838326200 | NAGLU | c.1819dup (p.Asp607GlyfsTer6) c.1157dup (n.1157dup) c.988dup (p.Asp330GlyfsTer6) c.820dup (p.Asp274GlyfsTer6) c.1876dup (p.Asp626GlyfsTer6) | |
17 | g.42543825G>A | CA399604978 | NAGLU | c.1819G>A (p.Asp607Asn) c.1157G>A (n.1157G>A) c.988G>A (p.Asp330Asn) c.820G>A (p.Asp274Asn) c.1876G>A (p.Asp626Asn) | |
17 | g.42543825G>C | CA399604979 | NAGLU | c.1819G>C (p.Asp607His) c.1157G>C (n.1157G>C) c.988G>C (p.Asp330His) c.820G>C (p.Asp274His) c.1876G>C (p.Asp626His) | |
17 | g.42543825G>T | CA399604976 | NAGLU | c.1819G>T (p.Asp607Tyr) c.1157G>T (n.1157G>T) c.988G>T (p.Asp330Tyr) c.820G>T (p.Asp274Tyr) c.1876G>T (p.Asp626Tyr) | |
17 | g.42543826A>C | CA399604983 | NAGLU | c.1820A>C (p.Asp607Ala) c.1158A>C (n.1158A>C) c.989A>C (p.Asp330Ala) c.821A>C (p.Asp274Ala) c.1877A>C (p.Asp626Ala) | |
17 | g.42543826A>G | CA399604984 | NAGLU | c.1820A>G (p.Asp607Gly) c.1158A>G (n.1158A>G) c.989A>G (p.Asp330Gly) c.821A>G (p.Asp274Gly) c.1877A>G (p.Asp626Gly) | |
17 | g.42543826A>T | CA399604986 | NAGLU | c.1820A>T (p.Asp607Val) c.1158A>T (n.1158A>T) c.989A>T (p.Asp330Val) c.821A>T (p.Asp274Val) c.1877A>T (p.Asp626Val) |