17 | g.42536277_42536282dup | CA658823935 | NAGLU | c.5_10dup (p.Ala3_Val4insGluAla)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536275_42536292dup | CA2637965457 | NAGLU | c.3_20dup (p.Ala7_Ala8insGluAlaValAlaValAla)
| gnomAD v4 |
17 | g.42536287_42536292dup | CA290771179 | NAGLU | c.15_20dup (p.Ala7_Ala8insValAla)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536287_42536292del | CA2637965475 | NAGLU | c.15_20del (p.Val6_Ala7del)
| gnomAD v4 |
17 | g.42536286_42536303dup | CA983827519 | NAGLU | c.14_31dup (p.Val10_Gly11insAlaValAlaAlaAlaVal)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536280C>A | CA399594886 | NAGLU | c.8C>A (p.Ala3Glu)
| gnomAD v4 |
17 | g.42536280C= | CA2260526664 | NAGLU | c.8C= (p.Ala3=)
| |
17 | g.42536280C>G | CA399594888 | NAGLU | c.8C>G (p.Ala3Gly)
| dbSNP |
17 | g.42536280C>T | CA399594890 | NAGLU | c.8C>T (p.Ala3Val)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536281G>A | CA500075395 | NAGLU | c.9G>A (p.Ala3=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536281G>C | CA500075393 | NAGLU | c.9G>C (p.Ala3=)
| |
17 | g.42536281G= | CA2260526665 | NAGLU | c.9G= (p.Ala3=)
| |
17 | g.42536281G>T | CA500075394 | NAGLU | c.9G>T (p.Ala3=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536283_42536285del | CA2809524818 | NAGLU | c.11_13del (p.Val4del)
| |
17 | g.42536282G>A | CA399594894 | NAGLU | c.10G>A (p.Val4Met)
| gnomAD v4 |
17 | g.42536282G>C | CA399594898 | NAGLU | c.10G>C (p.Val4Leu)
| |
17 | g.42536282G>T | CA399594900 | NAGLU | c.10G>T (p.Val4Leu)
| gnomAD v4 |
17 | g.42536283_42536287del | CA913012304 | NAGLU | c.11_15del (p.Val4GlyfsTer?)
| |
17 | g.42536283_42536294dup | CA2260526666 | NAGLU | c.11_22dup (p.Ala7_Ala8insValAlaValAla)
| dbSNP |
17 | g.42536283T>A | CA399594903 | NAGLU | c.11T>A (p.Val4Glu)
| |
17 | g.42536283T>C | CA399594904 | NAGLU | c.11T>C (p.Val4Ala)
| |
17 | g.42536283T>G | CA399594902 | NAGLU | c.11T>G (p.Val4Gly)
| |
17 | g.42536283T= | CA2260526668 | NAGLU | c.11T= (p.Val4=)
| |
17 | g.42536283dup | CA913012305 | NAGLU | c.11dup (p.Ala5GlyfsTer?)
| |
17 | g.42536283_42536287delinsTGGCG | CA2260526667 | NAGLU | c.11_15delinsTGGCG (p.Val4=)
| |
17 | g.42536284G>A | CA500215609 | NAGLU | c.12G>A (p.Val4=)
| ClinVar gnomAD v4 |
17 | g.42536284G>C | CA500215610 | NAGLU | c.12G>C (p.Val4=)
| |
17 | g.42536284G>T | CA500215608 | NAGLU | c.12G>T (p.Val4=)
| gnomAD v4 |
17 | g.42536285del | CA2809524819 | NAGLU | c.13del (p.Ala5ArgfsTer?)
| |
17 | g.42536285_42536288del | CA658823936 | NAGLU | c.13_16del (p.Ala5TrpfsTer?)
| ClinVar dbSNP |
17 | g.42536292_42536303dup | CA658823937 | NAGLU | c.20_31dup (p.Val10_Gly11insAlaAlaAlaVal)
| ClinVar dbSNP |
17 | g.42536285G>A | CA399594905 | NAGLU | c.13G>A (p.Ala5Thr)
| gnomAD v4 |
17 | g.42536285G>C | CA399594906 | NAGLU | c.13G>C (p.Ala5Pro)
| |
17 | g.42536285G>T | CA399594908 | NAGLU | c.13G>T (p.Ala5Ser)
| gnomAD v4 |
17 | g.42536286C>A | CA399594909 | NAGLU | c.14C>A (p.Ala5Glu)
| gnomAD v4 |
17 | g.42536286C= | CA2260526669 | NAGLU | c.14C= (p.Ala5=)
| |
17 | g.42536286C>G | CA399594910 | NAGLU | c.14C>G (p.Ala5Gly)
| |
17 | g.42536286C>T | CA399594911 | NAGLU | c.14C>T (p.Ala5Val)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536287G>A | CA500215614 | NAGLU | c.15G>A (p.Ala5=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536287G>C | CA500215613 | NAGLU | c.15G>C (p.Ala5=)
| |
17 | g.42536287G= | CA2260526670 | NAGLU | c.15G= (p.Ala5=)
| |
17 | g.42536287G>T | CA500215615 | NAGLU | c.15G>T (p.Ala5=)
| ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.42536288G>A | CA399594912 | NAGLU | c.16G>A (p.Val6Met)
| gnomAD v4 |
17 | g.42536288G>C | CA399594913 | NAGLU | c.16G>C (p.Val6Leu)
| |
17 | g.42536288G>T | CA399594914 | NAGLU | c.16G>T (p.Val6Leu)
| gnomAD v4 |
17 | g.42536289T>A | CA399594915 | NAGLU | c.17T>A (p.Val6Glu)
| |
17 | g.42536289T>C | CA399594916 | NAGLU | c.17T>C (p.Val6Ala)
| |
17 | g.42536289T>G | CA399594917 | NAGLU | c.17T>G (p.Val6Gly)
| dbSNP |
17 | g.42536290G>A | CA500215619 | NAGLU | c.18G>A (p.Val6=)
| ClinVar dbSNP |
17 | g.42536290G>C | CA500215621 | NAGLU | c.18G>C (p.Val6=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536290G= | CA2260526671 | NAGLU | c.18G= (p.Val6=)
| |
17 | g.42536290G>T | CA500215620 | NAGLU | c.18G>T (p.Val6=)
| gnomAD v4 |
17 | g.42536291del | CA2637965514 | NAGLU | c.19del (p.Ala7ProfsTer?)
| gnomAD v4 |
17 | g.42536291G>A | CA399594920 | NAGLU | c.19G>A (p.Ala7Thr)
| gnomAD v4 |
17 | g.42536291G>C | CA399594918 | NAGLU | c.19G>C (p.Ala7Pro)
| |
17 | g.42536291G= | CA2260526672 | NAGLU | c.19G= (p.Ala7=)
| |
17 | g.42536291G>T | CA399594919 | NAGLU | c.19G>T (p.Ala7Ser)
| dbSNP gnomAD v4 |
17 | g.42536292C>A | CA399594921 | NAGLU | c.20C>A (p.Ala7Asp)
| |
17 | g.42536292C>G | CA399594922 | NAGLU | c.20C>G (p.Ala7Gly)
| |
17 | g.42536292C>T | CA399594923 | NAGLU | c.20C>T (p.Ala7Val)
| gnomAD v4 |
17 | g.42536293C>A | CA500215629 | NAGLU | c.21C>A (p.Ala7=)
| gnomAD v4 |
17 | g.42536293C= | CA2260526673 | NAGLU | c.21C= (p.Ala7=)
| |
17 | g.42536293C>G | CA500215627 | NAGLU | c.21C>G (p.Ala7=)
| ClinVar |
17 | g.42536293C>T | CA500215628 | NAGLU | c.21C>T (p.Ala7=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536294G>A | CA399594924 | NAGLU | c.22G>A (p.Ala8Thr)
| gnomAD v4 |
17 | g.42536294G>C | CA399594925 | NAGLU | c.22G>C (p.Ala8Pro)
| gnomAD v4 |
17 | g.42536294G>T | CA399594928 | NAGLU | c.22G>T (p.Ala8Ser)
| gnomAD v4 |
17 | g.42536295C>A | CA399594932 | NAGLU | c.23C>A (p.Ala8Glu)
| |
17 | g.42536295C= | CA2260526675 | NAGLU | c.23C= (p.Ala8=)
| |
17 | g.42536295C>G | CA399594934 | NAGLU | c.23C>G (p.Ala8Gly)
| gnomAD v4 |
17 | g.42536295C>T | CA399594936 | NAGLU | c.23C>T (p.Ala8Val)
| dbSNP gnomAD v4 |
17 | g.42536295_42536301del | CA913012306 | NAGLU | c.23_29del (p.Ala8GlyfsTer?)
| |
17 | g.42536295_42536301delinsCGGCGGT | CA2260526674 | NAGLU | c.23_29delinsCGGCGGT (p.Ala8=)
| |
17 | g.42536296G>A | CA500215634 | NAGLU | c.24G>A (p.Ala8=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536296G>C | CA500215635 | NAGLU | c.24G>C (p.Ala8=)
| gnomAD v4 |
17 | g.42536296G>T | CA500215636 | NAGLU | c.24G>T (p.Ala8=)
| ClinVar gnomAD v4 |
17 | g.42536298_42536303del | CA658823938 | NAGLU | c.26_31del (p.Ala9_Val10del)
| ClinVar dbSNP |
17 | g.42536296_42536307del | CA2576295329 | NAGLU | c.24_35del (p.Ala9_Val12del)
| |
17 | g.42536297G>A | CA399594939 | NAGLU | c.25G>A (p.Ala9Thr)
| dbSNP gnomAD v4 |
17 | g.42536297G>C | CA399594941 | NAGLU | c.25G>C (p.Ala9Pro)
| |
17 | g.42536297G= | CA2260526676 | NAGLU | c.25G= (p.Ala9=)
| |
17 | g.42536297G>T | CA399594943 | NAGLU | c.25G>T (p.Ala9Ser)
| gnomAD v4 |
17 | g.42536298C>A | CA399594954 | NAGLU | c.26C>A (p.Ala9Glu)
| gnomAD v4 |
17 | g.42536298C= | CA2260526677 | NAGLU | c.26C= (p.Ala9=)
| |
17 | g.42536298C>G | CA399594951 | NAGLU | c.26C>G (p.Ala9Gly)
| ClinVar dbSNP |
17 | g.42536298C>T | CA399594945 | NAGLU | c.26C>T (p.Ala9Val)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536299G>A | CA290771190 | NAGLU | c.27G>A (p.Ala9=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536299G>C | CA500215640 | NAGLU | c.27G>C (p.Ala9=)
| |
17 | g.42536299G= | CA2260526678 | NAGLU | c.27G= (p.Ala9=)
| |
17 | g.42536299G>T | CA500215642 | NAGLU | c.27G>T (p.Ala9=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536300G>A | CA399594958 | NAGLU | c.28G>A (p.Val10Met)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536300G>C | CA399594962 | NAGLU | c.28G>C (p.Val10Leu)
| ClinVar gnomAD v4 |
17 | g.42536300G= | CA2260526679 | NAGLU | c.28G= (p.Val10=)
| |
17 | g.42536300G>T | CA399594960 | NAGLU | c.28G>T (p.Val10Leu)
| dbSNP gnomAD v4 |
17 | g.42536301T>A | CA399594966 | NAGLU | c.29T>A (p.Val10Glu)
| |
17 | g.42536301T>C | CA399594968 | NAGLU | c.29T>C (p.Val10Ala)
| gnomAD v4 |
17 | g.42536301T>G | CA238572 | NAGLU | c.29T>G (p.Val10Gly)
| ClinVar dbSNP |
17 | g.42536301T= | CA2260526680 | NAGLU | c.29T= (p.Val10=)
| |
17 | g.42536302G>A | CA500215649 | NAGLU | c.30G>A (p.Val10=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536302G>C | CA500215651 | NAGLU | c.30G>C (p.Val10=)
| |
17 | g.42536302G= | CA2260526681 | NAGLU | c.30G= (p.Val10=)
| |
17 | g.42536302G>T | CA500215650 | NAGLU | c.30G>T (p.Val10=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536306dup | CA2580093733 | NAGLU | c.34dup (p.Val12GlyfsTer?)
| ClinVar gnomAD v4 |
17 | g.42536302_42536303insATCATATT | CA914177570 | NAGLU | c.30_31insATCATATT (p.Gly11IlefsTer?)
| ClinVar dbSNP gnomAD v2 |
17 | g.42536303G>A | CA399594974 | NAGLU | c.31G>A (p.Gly11Arg)
| gnomAD v4 |
17 | g.42536303G>C | CA399594976 | NAGLU | c.31G>C (p.Gly11Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536303G= | CA2260526682 | NAGLU | c.31G= (p.Gly11=)
| |
17 | g.42536303G>T | CA399594978 | NAGLU | c.31G>T (p.Gly11Trp)
| gnomAD v4 |
17 | g.42536304G>A | CA399594981 | NAGLU | c.32G>A (p.Gly11Glu)
| gnomAD v4 |
17 | g.42536304G>C | CA399594983 | NAGLU | c.32G>C (p.Gly11Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536304G= | CA2260526683 | NAGLU | c.32G= (p.Gly11=)
| |
17 | g.42536304G>T | CA399594985 | NAGLU | c.32G>T (p.Gly11Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536305G>A | CA500215652 | NAGLU | c.33G>A (p.Gly11=)
| |
17 | g.42536305G>C | CA500215653 | NAGLU | c.33G>C (p.Gly11=)
| |
17 | g.42536305G>T | CA500215654 | NAGLU | c.33G>T (p.Gly11=)
| gnomAD v4 |
17 | g.42536306G>A | CA399594989 | NAGLU | c.34G>A (p.Val12Ile)
| gnomAD v4 |
17 | g.42536306G>C | CA399594991 | NAGLU | c.34G>C (p.Val12Leu)
| gnomAD v4 |
17 | g.42536306G>T | CA399594993 | NAGLU | c.34G>T (p.Val12Phe)
| gnomAD v4 |
17 | g.42536307T>A | CA399594997 | NAGLU | c.35T>A (p.Val12Asp)
| gnomAD v4 |
17 | g.42536307T>C | CA399595001 | NAGLU | c.35T>C (p.Val12Ala)
| gnomAD v4 |
17 | g.42536307T>G | CA399594999 | NAGLU | c.35T>G (p.Val12Gly)
| dbSNP |
17 | g.42536309_42536312dup | CA2637965602 | NAGLU | c.37_40dup (p.Leu14ProfsTer?)
| gnomAD v4 |
17 | g.42536308C>A | CA500215661 | NAGLU | c.36C>A (p.Val12=)
| gnomAD v4 |
17 | g.42536308C= | CA2260526684 | NAGLU | c.36C= (p.Val12=)
| |
17 | g.42536308C>G | CA500215662 | NAGLU | c.36C>G (p.Val12=)
| |
17 | g.42536308C>T | CA500215659 | NAGLU | c.36C>T (p.Val12=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536309C>A | CA399595003 | NAGLU | c.37C>A (p.Leu13Ile)
| gnomAD v4 |
17 | g.42536309C= | CA2260526685 | NAGLU | c.37C= (p.Leu13=)
| |
17 | g.42536309C>G | CA399595005 | NAGLU | c.37C>G (p.Leu13Val)
| gnomAD v4 |
17 | g.42536309C>T | CA290771208 | NAGLU | c.37C>T (p.Leu13Phe)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536310T>A | CA399595009 | NAGLU | c.38T>A (p.Leu13His)
| gnomAD v4 |
17 | g.42536310T>C | CA399595011 | NAGLU | c.38T>C (p.Leu13Pro)
| |
17 | g.42536310T>G | CA399595013 | NAGLU | c.38T>G (p.Leu13Arg)
| |
17 | g.42536311del | CA2637965611 | NAGLU | c.39del (p.Leu14SerfsTer?)
| gnomAD v4 |
17 | g.42536310_42536311insC | CA2695226048 | NAGLU | c.38_39insC (p.Leu14SerfsTer?)
| |
17 | g.42536311T>A | CA500215665 | NAGLU | c.39T>A (p.Leu13=)
| |
17 | g.42536311T>C | CA500215664 | NAGLU | c.39T>C (p.Leu13=)
| gnomAD v4 |
17 | g.42536311T>G | CA500215666 | NAGLU | c.39T>G (p.Leu13=)
| ClinVar |
17 | g.42536312C>A | CA399595016 | NAGLU | c.40C>A (p.Leu14Ile)
| ClinVar gnomAD v4 |
17 | g.42536312C>G | CA399595018 | NAGLU | c.40C>G (p.Leu14Val)
| |
17 | g.42536312C>T | CA399595020 | NAGLU | c.40C>T (p.Leu14Phe)
| gnomAD v4 |
17 | g.42536314_42536316del | CA2576295330 | NAGLU | c.42_44del (p.Leu15del)
| |
17 | g.42536313T>A | CA399595036 | NAGLU | c.41T>A (p.Leu14His)
| gnomAD v4 |
17 | g.42536313T>C | CA290771219 | NAGLU | c.41T>C (p.Leu14Pro)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536313T>G | CA399595034 | NAGLU | c.41T>G (p.Leu14Arg)
| |
17 | g.42536313T= | CA2260526686 | NAGLU | c.41T= (p.Leu14=)
| |
17 | g.42536314C>A | CA500215670 | NAGLU | c.42C>A (p.Leu14=)
| |
17 | g.42536314C= | CA2260526687 | NAGLU | c.42C= (p.Leu14=)
| |
17 | g.42536314C>G | CA500215672 | NAGLU | c.42C>G (p.Leu14=)
| dbSNP gnomAD v4 |
17 | g.42536314C>T | CA500215671 | NAGLU | c.42C>T (p.Leu14=)
| dbSNP gnomAD v4 |
17 | g.42536315C>A | CA399595042 | NAGLU | c.43C>A (p.Leu15Met)
| gnomAD v4 |
17 | g.42536315C= | CA2260526688 | NAGLU | c.43C= (p.Leu15=)
| |
17 | g.42536315C>G | CA399595044 | NAGLU | c.43C>G (p.Leu15Val)
| |
17 | g.42536315C>T | CA500215675 | NAGLU | c.43C>T (p.Leu15=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536316T>A | CA399595047 | NAGLU | c.44T>A (p.Leu15Gln)
| |
17 | g.42536316T>C | CA399595049 | NAGLU | c.44T>C (p.Leu15Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536316T>G | CA399595052 | NAGLU | c.44T>G (p.Leu15Arg)
| |
17 | g.42536316T= | CA2260526689 | NAGLU | c.44T= (p.Leu15=)
| |
17 | g.42536317G>A | CA500215682 | NAGLU | c.45G>A (p.Leu15=)
| gnomAD v4 |
17 | g.42536317G>C | CA500215683 | NAGLU | c.45G>C (p.Leu15=)
| |
17 | g.42536317G>T | CA500215684 | NAGLU | c.45G>T (p.Leu15=)
| gnomAD v4 |
17 | g.42536318G>A | CA399595059 | NAGLU | c.46G>A (p.Ala16Thr)
| gnomAD v4 |
17 | g.42536318G>C | CA399595057 | NAGLU | c.46G>C (p.Ala16Pro)
| |
17 | g.42536318G>T | CA399595054 | NAGLU | c.46G>T (p.Ala16Ser)
| gnomAD v4 |
17 | g.42536319C>A | CA399595062 | NAGLU | c.47C>A (p.Ala16Asp)
| gnomAD v4 |
17 | g.42536319C= | CA2260526690 | NAGLU | c.47C= (p.Ala16=)
| |
17 | g.42536319C>G | CA399595064 | NAGLU | c.47C>G (p.Ala16Gly)
| |
17 | g.42536319C>T | CA8576698 | NAGLU | c.47C>T (p.Ala16Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536320C>A | CA500215688 | NAGLU | c.48C>A (p.Ala16=)
| gnomAD v4 |
17 | g.42536320C= | CA2260526692 | NAGLU | c.48C= (p.Ala16=)
| |
17 | g.42536320C>G | CA500215687 | NAGLU | c.48C>G (p.Ala16=)
| |
17 | g.42536320C>T | CA500215686 | NAGLU | c.48C>T (p.Ala16=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536320_42536321delinsCG | CA2260526691 | NAGLU | c.48_49delinsCG (p.Ala16=)
| |
17 | g.42536321G>A | CA399595068 | NAGLU | c.49G>A (p.Gly17Arg)
| dbSNP gnomAD v4 |
17 | g.42536321G>C | CA399595070 | NAGLU | c.49G>C (p.Gly17Arg)
| gnomAD v4 |
17 | g.42536321G= | CA2260526693 | NAGLU | c.49G= (p.Gly17=)
| |
17 | g.42536321G>T | CA399595072 | NAGLU | c.49G>T (p.Gly17Trp)
| gnomAD v4 |
17 | g.42536324del | CA626218514 | NAGLU | c.52del (p.Ala18ProfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536326_42536332dup | CA2499224325 | NAGLU | c.54_60dup (p.Ala21ArgfsTer?)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536321_42536345dup | CA1139665538 | NAGLU | c.49_73dup (p.Glu25GlyfsTer?)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536322G>A | CA399595075 | NAGLU | c.50G>A (p.Gly17Glu)
| gnomAD v4 |
17 | g.42536322G>C | CA399595078 | NAGLU | c.50G>C (p.Gly17Ala)
| gnomAD v4 |
17 | g.42536322G= | CA2260526694 | NAGLU | c.50G= (p.Gly17=)
| |
17 | g.42536322G>T | CA290771238 | NAGLU | c.50G>T (p.Gly17Val)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536323G>A | CA500215696 | NAGLU | c.51G>A (p.Gly17=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536323G>C | CA500215697 | NAGLU | c.51G>C (p.Gly17=)
| |
17 | g.42536323G>T | CA500215699 | NAGLU | c.51G>T (p.Gly17=)
| |
17 | g.42536324G>A | CA399595081 | NAGLU | c.52G>A (p.Ala18Thr)
| gnomAD v4 |
17 | g.42536324G>C | CA399595083 | NAGLU | c.52G>C (p.Ala18Pro)
| gnomAD v4 |
17 | g.42536324G>T | CA399595085 | NAGLU | c.52G>T (p.Ala18Ser)
| gnomAD v4 |
17 | g.42536325C>A | CA399595087 | NAGLU | c.53C>A (p.Ala18Asp)
| gnomAD v4 |
17 | g.42536325C>G | CA399595089 | NAGLU | c.53C>G (p.Ala18Gly)
| |
17 | g.42536325C>T | CA399595092 | NAGLU | c.53C>T (p.Ala18Val)
| gnomAD v4 |
17 | g.42536326C>A | CA500215704 | NAGLU | c.54C>A (p.Ala18=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536326C= | CA2260526695 | NAGLU | c.54C= (p.Ala18=)
| |
17 | g.42536326C>G | CA500215705 | NAGLU | c.54C>G (p.Ala18=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536326C>T | CA500215709 | NAGLU | c.54C>T (p.Ala18=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536326_42536327delinsCG | CA2260526696 | NAGLU | c.54_55delinsCG (p.Ala18=)
| |
17 | g.42536327G>A | CA399595096 | NAGLU | c.55G>A (p.Gly19Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536327G>C | CA399595098 | NAGLU | c.55G>C (p.Gly19Arg)
| dbSNP gnomAD v4 |
17 | g.42536327G= | CA2260526697 | NAGLU | c.55G= (p.Gly19=)
| |
17 | g.42536327G>T | CA399595103 | NAGLU | c.55G>T (p.Gly19Trp)
| gnomAD v4 |
17 | g.42536331dup | CA2573154143 | NAGLU | c.59dup (p.Ala21ArgfsTer?)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536331del | CA626218515 | NAGLU | c.59del (p.Gly20AlafsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536328G>A | CA399595106 | NAGLU | c.56G>A (p.Gly19Glu)
| ClinVar gnomAD v4 |
17 | g.42536328G>C | CA399595109 | NAGLU | c.56G>C (p.Gly19Ala)
| gnomAD v4 |
17 | g.42536328G>T | CA399595111 | NAGLU | c.56G>T (p.Gly19Val)
| gnomAD v4 |
17 | g.42536329_42536345dup | CA2637965689 | NAGLU | c.57_73dup (p.Glu25GlyfsTer?)
| gnomAD v4 |
17 | g.42536329G>A | CA500215716 | NAGLU | c.57G>A (p.Gly19=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536329G>C | CA500215714 | NAGLU | c.57G>C (p.Gly19=)
| |
17 | g.42536329G>T | CA500215715 | NAGLU | c.57G>T (p.Gly19=)
| gnomAD v4 |
17 | g.42536330G>A | CA399595116 | NAGLU | c.58G>A (p.Gly20Ser)
| |
17 | g.42536330G>C | CA399595118 | NAGLU | c.58G>C (p.Gly20Arg)
| |
17 | g.42536330G>T | CA399595114 | NAGLU | c.58G>T (p.Gly20Cys)
| gnomAD v4 |
17 | g.42536331G>A | CA399595127 | NAGLU | c.59G>A (p.Gly20Asp)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536331G>C | CA399595122 | NAGLU | c.59G>C (p.Gly20Ala)
| dbSNP |
17 | g.42536331G= | CA2260526698 | NAGLU | c.59G= (p.Gly20=)
| |
17 | g.42536331G>T | CA399595124 | NAGLU | c.59G>T (p.Gly20Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536332C>A | CA500215721 | NAGLU | c.60C>A (p.Gly20=)
| gnomAD v4 |
17 | g.42536332C= | CA2260526699 | NAGLU | c.60C= (p.Gly20=)
| |
17 | g.42536332C>G | CA500215722 | NAGLU | c.60C>G (p.Gly20=)
| gnomAD v4 |
17 | g.42536332C>T | CA500215720 | NAGLU | c.60C>T (p.Gly20=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536333G>A | CA399595129 | NAGLU | c.61G>A (p.Ala21Thr)
| gnomAD v4 |
17 | g.42536333G>C | CA399595131 | NAGLU | c.61G>C (p.Ala21Pro)
| |
17 | g.42536333G>T | CA399595134 | NAGLU | c.61G>T (p.Ala21Ser)
| gnomAD v4 |
17 | g.42536338_42536364dup | CA2637965700 | NAGLU | c.66_92dup (p.Ala31_Val32insGlyAspGluAlaArgGluAlaAlaAla)
| gnomAD v4 |
17 | g.42536334C>A | CA399595135 | NAGLU | c.62C>A (p.Ala21Glu)
| gnomAD v4 |
17 | g.42536334C>G | CA399595138 | NAGLU | c.62C>G (p.Ala21Gly)
| |
17 | g.42536334C>T | CA399595140 | NAGLU | c.62C>T (p.Ala21Val)
| gnomAD v4 |
17 | g.42536335G>A | CA500215739 | NAGLU | c.63G>A (p.Ala21=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536335G>C | CA290771242 | NAGLU | c.63G>C (p.Ala21=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536335G= | CA2260526700 | NAGLU | c.63G= (p.Ala21=)
| |
17 | g.42536335G>T | CA500215740 | NAGLU | c.63G>T (p.Ala21=)
| gnomAD v4 |
17 | g.42536336G>A | CA399595146 | NAGLU | c.64G>A (p.Ala22Thr)
| gnomAD v4 |
17 | g.42536336G>C | CA399595148 | NAGLU | c.64G>C (p.Ala22Pro)
| |
17 | g.42536336G>T | CA399595150 | NAGLU | c.64G>T (p.Ala22Ser)
| gnomAD v4 |
17 | g.42536337C>A | CA399595153 | NAGLU | c.65C>A (p.Ala22Glu)
| gnomAD v4 |
17 | g.42536337C>G | CA399595155 | NAGLU | c.65C>G (p.Ala22Gly)
| |
17 | g.42536337C>T | CA399595158 | NAGLU | c.65C>T (p.Ala22Val)
| gnomAD v4 |
17 | g.42536338A>C | CA500215747 | NAGLU | c.66A>C (p.Ala22=)
| |
17 | g.42536338A>G | CA500215750 | NAGLU | c.66A>G (p.Ala22=)
| gnomAD v4 |
17 | g.42536338A>T | CA500215749 | NAGLU | c.66A>T (p.Ala22=)
| |
17 | g.42536343_42536359del | CA2499224326 | NAGLU | c.71_87del (p.Asp24GlyfsTer?)
| ClinVar dbSNP |
17 | g.42536339G>A | CA399595161 | NAGLU | c.67G>A (p.Gly23Ser)
| gnomAD v4 |
17 | g.42536339G>C | CA399595164 | NAGLU | c.67G>C (p.Gly23Arg)
| |
17 | g.42536339G>T | CA399595162 | NAGLU | c.67G>T (p.Gly23Cys)
| |
17 | g.42536340G>A | CA399595167 | NAGLU | c.68G>A (p.Gly23Asp)
| gnomAD v4 |
17 | g.42536340G>C | CA399595169 | NAGLU | c.68G>C (p.Gly23Ala)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536340G= | CA2260526701 | NAGLU | c.68G= (p.Gly23=)
| |
17 | g.42536340G>T | CA399595172 | NAGLU | c.68G>T (p.Gly23Val)
| gnomAD v4 |
17 | g.42536341C>A | CA500215753 | NAGLU | c.69C>A (p.Gly23=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536341C= | CA2260526702 | NAGLU | c.69C= (p.Gly23=)
| |
17 | g.42536341C>G | CA500215755 | NAGLU | c.69C>G (p.Gly23=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536341C>T | CA500215758 | NAGLU | c.69C>T (p.Gly23=)
| dbSNP gnomAD v4 |
17 | g.42536342G>A | CA399595175 | NAGLU | c.70G>A (p.Asp24Asn)
| gnomAD v4 |
17 | g.42536342G>C | CA399595177 | NAGLU | c.70G>C (p.Asp24His)
| |
17 | g.42536342G>T | CA399595179 | NAGLU | c.70G>T (p.Asp24Tyr)
| gnomAD v4 |
17 | g.42536343A>C | CA399595182 | NAGLU | c.71A>C (p.Asp24Ala)
| |
17 | g.42536343A>G | CA399595184 | NAGLU | c.71A>G (p.Asp24Gly)
| gnomAD v4 |
17 | g.42536343A>T | CA399595187 | NAGLU | c.71A>T (p.Asp24Val)
| |
17 | g.42536344C>A | CA399595190 | NAGLU | c.72C>A (p.Asp24Glu)
| gnomAD v4 |
17 | g.42536344C>G | CA399595195 | NAGLU | c.72C>G (p.Asp24Glu)
| gnomAD v4 |
17 | g.42536344C>T | CA500215765 | NAGLU | c.72C>T (p.Asp24=)
| gnomAD v4 |
17 | g.42536345G>A | CA399595198 | NAGLU | c.73G>A (p.Glu25Lys)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536345G>C | CA399595203 | NAGLU | c.73G>C (p.Glu25Gln)
| |
17 | g.42536345G= | CA2260526703 | NAGLU | c.73G= (p.Glu25=)
| |
17 | g.42536345G>T | CA399595200 | NAGLU | c.73G>T (p.Glu25Ter)
| |
17 | g.42536346A>C | CA399595207 | NAGLU | c.74A>C (p.Glu25Ala)
| |
17 | g.42536346A>G | CA399595208 | NAGLU | c.74A>G (p.Glu25Gly)
| ClinVar gnomAD v4 |
17 | g.42536346A>T | CA399595211 | NAGLU | c.74A>T (p.Glu25Val)
| gnomAD v4 |
17 | g.42536346_42536379delinsAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGT | CA2260526704 | NAGLU | c.74_107delinsAGGCCCGGGAGGCGGCGGCCGTGCGGGCGCTCGT (p.Glu25=)
| |
17 | g.42536347G>A | CA500215771 | NAGLU | c.75G>A (p.Glu25=)
| gnomAD v4 |
17 | g.42536347G>C | CA399595214 | NAGLU | c.75G>C (p.Glu25Asp)
| |
17 | g.42536347G>T | CA399595216 | NAGLU | c.75G>T (p.Glu25Asp)
| gnomAD v4 |
17 | g.42536354_42536386del | CA1139665539 | NAGLU | c.82_114del (p.Glu28_Arg38del)
| ClinVar dbSNP |
17 | g.42536348G>A | CA399595220 | NAGLU | c.76G>A (p.Ala26Thr)
| gnomAD v4 |
17 | g.42536348G>C | CA399595222 | NAGLU | c.76G>C (p.Ala26Pro)
| |
17 | g.42536348G= | CA2260526705 | NAGLU | c.76G= (p.Ala26=)
| |
17 | g.42536348G>T | CA399595224 | NAGLU | c.76G>T (p.Ala26Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536349C>A | CA399595227 | NAGLU | c.77C>A (p.Ala26Asp)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536349C= | CA2260526706 | NAGLU | c.77C= (p.Ala26=)
| |
17 | g.42536349C>G | CA399595230 | NAGLU | c.77C>G (p.Ala26Gly)
| |
17 | g.42536349C>T | CA290771244 | NAGLU | c.77C>T (p.Ala26Val)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536351del | CA2637965716 | NAGLU | c.79del (p.Arg27GlyfsTer?)
| gnomAD v4 |
17 | g.42536350C>A | CA500215780 | NAGLU | c.78C>A (p.Ala26=)
| gnomAD v4 |
17 | g.42536350C= | CA2260526707 | NAGLU | c.78C= (p.Ala26=)
| |
17 | g.42536350C>G | CA500215783 | NAGLU | c.78C>G (p.Ala26=)
| ClinVar dbSNP |
17 | g.42536350C>T | CA500215781 | NAGLU | c.78C>T (p.Ala26=)
| gnomAD v4 |
17 | g.42536351C>A | CA500215784 | NAGLU | c.79C>A (p.Arg27=)
| gnomAD v4 |
17 | g.42536351C>G | CA399595234 | NAGLU | c.79C>G (p.Arg27Gly)
| gnomAD v4 |
17 | g.42536351C>T | CA399595237 | NAGLU | c.79C>T (p.Arg27Trp)
| gnomAD v4 |
17 | g.42536351_42536352del | CA913012307 | NAGLU | c.79_80del (p.Arg27GlyfsTer?)
| |
17 | g.42536351_42536352delinsCG | CA2260526708 | NAGLU | c.79_80delinsCG (p.Arg27=)
| |
17 | g.42536352G>A | CA399595240 | NAGLU | c.80G>A (p.Arg27Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536352G>C | CA399595245 | NAGLU | c.80G>C (p.Arg27Pro)
| gnomAD v4 |
17 | g.42536352G= | CA2260526709 | NAGLU | c.80G= (p.Arg27=)
| |
17 | g.42536352G>T | CA399595242 | NAGLU | c.80G>T (p.Arg27Leu)
| gnomAD v4 |
17 | g.42536354dup | CA2580093742 | NAGLU | c.82dup (p.Glu28GlyfsTer?)
| ClinVar |
17 | g.42536352_42536354dup | CA2580093741 | NAGLU | c.80_82dup (p.Arg27_Glu28insGly)
| ClinVar |
17 | g.42536354del | CA626218516 | NAGLU | c.82del (p.Glu28ArgfsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536353G>A | CA500215789 | NAGLU | c.81G>A (p.Arg27=)
| gnomAD v4 |
17 | g.42536353G>C | CA290771255 | NAGLU | c.81G>C (p.Arg27=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536353G= | CA2260526710 | NAGLU | c.81G= (p.Arg27=)
| |
17 | g.42536353G>T | CA500215788 | NAGLU | c.81G>T (p.Arg27=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536354G>A | CA399595247 | NAGLU | c.82G>A (p.Glu28Lys)
| |
17 | g.42536354G>C | CA399595249 | NAGLU | c.82G>C (p.Glu28Gln)
| |
17 | g.42536354G>T | CA399595251 | NAGLU | c.82G>T (p.Glu28Ter)
| gnomAD v4 |
17 | g.42536354_42536359delinsTGTATAAGAGACA | CA2580093743 | NAGLU | c.82_87delinsTGTATAAGAGACA (p.Glu28CysfsTer?)
| ClinVar |
17 | g.42536355A>C | CA399595253 | NAGLU | c.83A>C (p.Glu28Ala)
| |
17 | g.42536355A>G | CA399595256 | NAGLU | c.83A>G (p.Glu28Gly)
| gnomAD v4 |
17 | g.42536355A>T | CA399595258 | NAGLU | c.83A>T (p.Glu28Val)
| gnomAD v4 |
17 | g.42536356G>A | CA500215794 | NAGLU | c.84G>A (p.Glu28=)
| gnomAD v4 |
17 | g.42536356G>C | CA399595261 | NAGLU | c.84G>C (p.Glu28Asp)
| |
17 | g.42536356G>T | CA399595262 | NAGLU | c.84G>T (p.Glu28Asp)
| gnomAD v4 |
17 | g.42536357G>A | CA399595266 | NAGLU | c.85G>A (p.Ala29Thr)
| gnomAD v4 |
17 | g.42536357G>C | CA399595267 | NAGLU | c.85G>C (p.Ala29Pro)
| |
17 | g.42536357G>T | CA399595269 | NAGLU | c.85G>T (p.Ala29Ser)
| gnomAD v4 |
17 | g.42536358C>A | CA399595275 | NAGLU | c.86C>A (p.Ala29Glu)
| gnomAD v4 |
17 | g.42536358C>G | CA399595276 | NAGLU | c.86C>G (p.Ala29Gly)
| |
17 | g.42536358C>T | CA399595272 | NAGLU | c.86C>T (p.Ala29Val)
| gnomAD v4 |
17 | g.42536359G>A | CA500215805 | NAGLU | c.87G>A (p.Ala29=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536359G>C | CA500215803 | NAGLU | c.87G>C (p.Ala29=)
| |
17 | g.42536359G= | CA2260526711 | NAGLU | c.87G= (p.Ala29=)
| |
17 | g.42536359G>T | CA500215804 | NAGLU | c.87G>T (p.Ala29=)
| |
17 | g.42536360G>A | CA399595283 | NAGLU | c.88G>A (p.Ala30Thr)
| gnomAD v4 |
17 | g.42536360G>C | CA399595279 | NAGLU | c.88G>C (p.Ala30Pro)
| |
17 | g.42536360G>T | CA399595281 | NAGLU | c.88G>T (p.Ala30Ser)
| |
17 | g.42536361C>A | CA399595286 | NAGLU | c.89C>A (p.Ala30Glu)
| gnomAD v4 |
17 | g.42536361C>G | CA399595288 | NAGLU | c.89C>G (p.Ala30Gly)
| |
17 | g.42536361C>T | CA399595290 | NAGLU | c.89C>T (p.Ala30Val)
| gnomAD v4 |
17 | g.42536362G>A | CA500215806 | NAGLU | c.90G>A (p.Ala30=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536362G>C | CA500215808 | NAGLU | c.90G>C (p.Ala30=)
| |
17 | g.42536362G>T | CA500215807 | NAGLU | c.90G>T (p.Ala30=)
| gnomAD v4 |
17 | g.42536363G>A | CA399595293 | NAGLU | c.91G>A (p.Ala31Thr)
| gnomAD v4 |
17 | g.42536363G>C | CA399595292 | NAGLU | c.91G>C (p.Ala31Pro)
| gnomAD v4 |
17 | g.42536363G>T | CA399595291 | NAGLU | c.91G>T (p.Ala31Ser)
| gnomAD v4 |
17 | g.42536364C>A | CA399595294 | NAGLU | c.92C>A (p.Ala31Asp)
| gnomAD v4 |
17 | g.42536364C= | CA2260526712 | NAGLU | c.92C= (p.Ala31=)
| |
17 | g.42536364C>G | CA399595295 | NAGLU | c.92C>G (p.Ala31Gly)
| ClinVar gnomAD v4 |
17 | g.42536364C>T | CA399595296 | NAGLU | c.92C>T (p.Ala31Val)
| dbSNP gnomAD v4 |
17 | g.42536365C>A | CA500215812 | NAGLU | c.93C>A (p.Ala31=)
| gnomAD v4 |
17 | g.42536365C= | CA2260526713 | NAGLU | c.93C= (p.Ala31=)
| |
17 | g.42536365C>G | CA500215813 | NAGLU | c.93C>G (p.Ala31=)
| |
17 | g.42536365C>T | CA500215810 | NAGLU | c.93C>T (p.Ala31=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536366G>A | CA399595297 | NAGLU | c.94G>A (p.Val32Met)
| gnomAD v4 |
17 | g.42536366G>C | CA399595298 | NAGLU | c.94G>C (p.Val32Leu)
| |
17 | g.42536366G= | CA2260526714 | NAGLU | c.94G= (p.Val32=)
| |
17 | g.42536366G>T | CA399595299 | NAGLU | c.94G>T (p.Val32Leu)
| dbSNP |
17 | g.42536367T>A | CA399595300 | NAGLU | c.95T>A (p.Val32Glu)
| |
17 | g.42536367T>C | CA399595302 | NAGLU | c.95T>C (p.Val32Ala)
| ClinVar gnomAD v4 |
17 | g.42536367T>G | CA399595301 | NAGLU | c.95T>G (p.Val32Gly)
| |
17 | g.42536368G>A | CA500215818 | NAGLU | c.96G>A (p.Val32=)
| dbSNP gnomAD v4 |
17 | g.42536368G>C | CA500215819 | NAGLU | c.96G>C (p.Val32=)
| |
17 | g.42536368G= | CA2260526715 | NAGLU | c.96G= (p.Val32=)
| |
17 | g.42536368G>T | CA500215816 | NAGLU | c.96G>T (p.Val32=)
| gnomAD v4 |
17 | g.42536369C>A | CA500215820 | NAGLU | c.97C>A (p.Arg33=)
| gnomAD v4 |
17 | g.42536369C>G | CA399595303 | NAGLU | c.97C>G (p.Arg33Gly)
| |
17 | g.42536369C>T | CA399595304 | NAGLU | c.97C>T (p.Arg33Trp)
| gnomAD v4 COSMIC |
17 | g.42536370G>A | CA399595305 | NAGLU | c.98G>A (p.Arg33Gln)
| gnomAD v4 |
17 | g.42536370G>C | CA399595306 | NAGLU | c.98G>C (p.Arg33Pro)
| |
17 | g.42536370G>T | CA399595307 | NAGLU | c.98G>T (p.Arg33Leu)
| gnomAD v4 |
17 | g.42536371G>A | CA500215826 | NAGLU | c.99G>A (p.Arg33=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536371G>C | CA500215827 | NAGLU | c.99G>C (p.Arg33=)
| gnomAD v4 |
17 | g.42536371G>T | CA500215828 | NAGLU | c.99G>T (p.Arg33=)
| gnomAD v4 |
17 | g.42536372G>A | CA399595308 | NAGLU | c.100G>A (p.Ala34Thr)
| gnomAD v4 |
17 | g.42536372G>C | CA399595309 | NAGLU | c.100G>C (p.Ala34Pro)
| ClinVar dbSNP |
17 | g.42536372G= | CA2260526716 | NAGLU | c.100G= (p.Ala34=)
| |
17 | g.42536372G>T | CA399595310 | NAGLU | c.100G>T (p.Ala34Ser)
| gnomAD v4 |
17 | g.42536373C>A | CA399595311 | NAGLU | c.101C>A (p.Ala34Glu)
| gnomAD v4 |
17 | g.42536373C>G | CA399595312 | NAGLU | c.101C>G (p.Ala34Gly)
| |
17 | g.42536373C>T | CA399595313 | NAGLU | c.101C>T (p.Ala34Val)
| gnomAD v4 |
17 | g.42536374G>A | CA500215833 | NAGLU | c.102G>A (p.Ala34=)
| gnomAD v4 |
17 | g.42536374G>C | CA500215836 | NAGLU | c.102G>C (p.Ala34=)
| gnomAD v4 |
17 | g.42536374G>T | CA500215834 | NAGLU | c.102G>T (p.Ala34=)
| gnomAD v4 |
17 | g.42536375C>A | CA399595316 | NAGLU | c.103C>A (p.Leu35Ile)
| gnomAD v4 |
17 | g.42536375C>G | CA399595315 | NAGLU | c.103C>G (p.Leu35Val)
| |
17 | g.42536375C>T | CA399595314 | NAGLU | c.103C>T (p.Leu35Phe)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536376T>A | CA399595317 | NAGLU | c.104T>A (p.Leu35His)
| |
17 | g.42536376T>C | CA399595319 | NAGLU | c.104T>C (p.Leu35Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536376T>G | CA399595318 | NAGLU | c.104T>G (p.Leu35Arg)
| |
17 | g.42536376T= | CA2260526717 | NAGLU | c.104T= (p.Leu35=)
| |
17 | g.42536377C>A | CA500215850 | NAGLU | c.105C>A (p.Leu35=)
| gnomAD v4 |
17 | g.42536377C= | CA2260526718 | NAGLU | c.105C= (p.Leu35=)
| |
17 | g.42536377C>G | CA500215848 | NAGLU | c.105C>G (p.Leu35=)
| gnomAD v4 |
17 | g.42536377C>T | CA290771258 | NAGLU | c.105C>T (p.Leu35=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536379_42536385del | CA2637965723 | NAGLU | c.107_113del (p.Val36GlyfsTer?)
| gnomAD v4 |
17 | g.42536378G>A | CA399595320 | NAGLU | c.106G>A (p.Val36Met)
| gnomAD v4 |
17 | g.42536378G>C | CA399595321 | NAGLU | c.106G>C (p.Val36Leu)
| gnomAD v4 |
17 | g.42536378G>T | CA399595322 | NAGLU | c.106G>T (p.Val36Leu)
| gnomAD v4 |
17 | g.42536379T>A | CA399595323 | NAGLU | c.107T>A (p.Val36Glu)
| |
17 | g.42536379T>C | CA399595324 | NAGLU | c.107T>C (p.Val36Ala)
| gnomAD v4 |
17 | g.42536379T>G | CA399595325 | NAGLU | c.107T>G (p.Val36Gly)
| gnomAD v4 |
17 | g.42536380G>A | CA500215854 | NAGLU | c.108G>A (p.Val36=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536380G>C | CA500215855 | NAGLU | c.108G>C (p.Val36=)
| |
17 | g.42536380G= | CA2260526719 | NAGLU | c.108G= (p.Val36=)
| |
17 | g.42536380G>T | CA500215853 | NAGLU | c.108G>T (p.Val36=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |