Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.42536447A>C | CA399595522 | NAGLU | c.175A>C (p.Lys59Gln) | |
17 | g.42536447A>G | CA399595524 | NAGLU | c.175A>G (p.Lys59Glu) | gnomAD v4 |
17 | g.42536447A>T | CA399595520 | NAGLU | c.175A>T (p.Lys59Ter) | |
17 | g.42536448A= | CA2260526752 | NAGLU | c.176A= (p.Lys59=) | |
17 | g.42536448A>C | CA399595527 | NAGLU | c.176A>C (p.Lys59Thr) | |
17 | g.42536448A>G | CA399595528 | NAGLU | c.176A>G (p.Lys59Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536448A>T | CA399595529 | NAGLU | c.176A>T (p.Lys59Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536449G>A | CA500216039 | NAGLU | c.177G>A (p.Lys59=) | ClinVar dbSNP gnomAD v4 |
17 | g.42536449G>C | CA399595531 | NAGLU | c.177G>C (p.Lys59Asn) | gnomAD v4 |
17 | g.42536449G= | CA2260526753 | NAGLU | c.177G= (p.Lys59=) | |
17 | g.42536449G>T | CA399595533 | NAGLU | c.177G>T (p.Lys59Asn) | dbSNP gnomAD v4 |
17 | g.42536450C>A | CA399595536 | NAGLU | c.178C>A (p.Pro60Thr) | gnomAD v4 |
17 | g.42536450C>G | CA399595535 | NAGLU | c.178C>G (p.Pro60Ala) | gnomAD v4 |
17 | g.42536450C>T | CA399595534 | NAGLU | c.178C>T (p.Pro60Ser) | gnomAD v4 |
17 | g.42536451del | CA2695226050 | NAGLU | c.179del (p.Pro60ArgfsTer?) | |
17 | g.42536451C>A | CA399595538 | NAGLU | c.179C>A (p.Pro60Gln) | gnomAD v4 |
17 | g.42536451C>G | CA399595539 | NAGLU | c.179C>G (p.Pro60Arg) | gnomAD v4 |
17 | g.42536451C>T | CA399595540 | NAGLU | c.179C>T (p.Pro60Leu) | gnomAD v4 |
17 | g.42536452G>A | CA500216051 | NAGLU | c.180G>A (p.Pro60=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536452G>C | CA500216052 | NAGLU | c.180G>C (p.Pro60=) | ClinVar dbSNP gnomAD v4 |
17 | g.42536452G= | CA2260526754 | NAGLU | c.180G= (p.Pro60=) | |
17 | g.42536452G>T | CA500216049 | NAGLU | c.180G>T (p.Pro60=) | gnomAD v4 |
17 | g.42536454del | CA2637965956 | NAGLU | c.182del (p.Gly61AlafsTer?) | gnomAD v4 |
17 | g.42536453G>A | CA399595542 | NAGLU | c.181G>A (p.Gly61Ser) | dbSNP gnomAD v4 |
17 | g.42536453G>C | CA399595544 | NAGLU | c.181G>C (p.Gly61Arg) | gnomAD v4 |
17 | g.42536453G= | CA2260526755 | NAGLU | c.181G= (p.Gly61=) | |
17 | g.42536453G>T | CA399595545 | NAGLU | c.181G>T (p.Gly61Cys) | gnomAD v4 |
17 | g.42536454G>A | CA399595547 | NAGLU | c.182G>A (p.Gly61Asp) | gnomAD v4 |
17 | g.42536454G>C | CA399595550 | NAGLU | c.182G>C (p.Gly61Ala) | |
17 | g.42536454G>T | CA399595549 | NAGLU | c.182G>T (p.Gly61Val) | gnomAD v4 |
17 | g.42536455C>A | CA500216059 | NAGLU | c.183C>A (p.Gly61=) | ClinVar gnomAD v4 |
17 | g.42536455C>G | CA500216055 | NAGLU | c.183C>G (p.Gly61=) | ClinVar dbSNP gnomAD v4 |
17 | g.42536455C>T | CA500216056 | NAGLU | c.183C>T (p.Gly61=) | gnomAD v4 |
17 | g.42536456T>A | CA399595553 | NAGLU | c.184T>A (p.Leu62Met) | gnomAD v4 |
17 | g.42536456T>C | CA500216060 | NAGLU | c.184T>C (p.Leu62=) | ClinVar gnomAD v4 |
17 | g.42536456T>G | CA399595554 | NAGLU | c.184T>G (p.Leu62Val) | |
17 | g.42536457T>A | CA399595556 | NAGLU | c.185T>A (p.Leu62Ter) | gnomAD v4 |
17 | g.42536457T>C | CA399595559 | NAGLU | c.185T>C (p.Leu62Ser) | gnomAD v4 |
17 | g.42536457T>G | CA399595558 | NAGLU | c.185T>G (p.Leu62Trp) | |
17 | g.42536458G>A | CA500216063 | NAGLU | c.186G>A (p.Leu62=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536458G>C | CA399595560 | NAGLU | c.186G>C (p.Leu62Phe) | |
17 | g.42536458G= | CA2260526756 | NAGLU | c.186G= (p.Leu62=) | |
17 | g.42536458G>T | CA399595561 | NAGLU | c.186G>T (p.Leu62Phe) | gnomAD v4 |
17 | g.42536459del | CA2637965986 | NAGLU | c.187del (p.Asp63ThrfsTer?) | gnomAD v4 |
17 | g.42536459G>A | CA399595563 | NAGLU | c.187G>A (p.Asp63Asn) | gnomAD v4 |
17 | g.42536459G>C | CA399595564 | NAGLU | c.187G>C (p.Asp63His) | gnomAD v4 |
17 | g.42536459G>T | CA399595566 | NAGLU | c.187G>T (p.Asp63Tyr) | gnomAD v4 |
17 | g.42536460A= | CA2260526757 | NAGLU | c.188A= (p.Asp63=) | |
17 | g.42536460A>C | CA399595568 | NAGLU | c.188A>C (p.Asp63Ala) | |
17 | g.42536460A>G | CA399595570 | NAGLU | c.188A>G (p.Asp63Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536460A>T | CA399595572 | NAGLU | c.188A>T (p.Asp63Val) | |
17 | g.42536461C>A | CA399595573 | NAGLU | c.189C>A (p.Asp63Glu) | gnomAD v4 |
17 | g.42536461C>G | CA399595574 | NAGLU | c.189C>G (p.Asp63Glu) | gnomAD v4 |
17 | g.42536461C>T | CA500216067 | NAGLU | c.189C>T (p.Asp63=) | gnomAD v4 |
17 | g.42536462del | CA2809524820 | NAGLU | c.190del (p.Thr64ProfsTer?) | |
17 | g.42536462A>C | CA399595580 | NAGLU | c.190A>C (p.Thr64Pro) | |
17 | g.42536462A>G | CA399595579 | NAGLU | c.190A>G (p.Thr64Ala) | ClinVar gnomAD v4 |
17 | g.42536462A>T | CA399595577 | NAGLU | c.190A>T (p.Thr64Ser) | gnomAD v4 |
17 | g.42536462_42536463delinsAC | CA2260526758 | NAGLU | c.190_191delinsAC (p.Thr64=) | |
17 | g.42536464_42536467del | CA2637965988 | NAGLU | c.192_195del (p.Tyr65AlafsTer?) | gnomAD v4 |
17 | g.42536463C>A | CA399595583 | NAGLU | c.191C>A (p.Thr64Asn) | gnomAD v4 |
17 | g.42536463C>G | CA399595584 | NAGLU | c.191C>G (p.Thr64Ser) | gnomAD v4 |
17 | g.42536463C>T | CA399595585 | NAGLU | c.191C>T (p.Thr64Ile) | gnomAD v4 |
17 | g.42536463_42536464insAGC | CA2637965995 | NAGLU | c.191_192insAGC (p.Thr64_Tyr65insAla) | gnomAD v4 |
17 | g.42536464del | CA2260526759 | NAGLU | c.192del (p.Tyr65ThrfsTer?) | ClinVar dbSNP |
17 | g.42536464C>A | CA500216075 | NAGLU | c.192C>A (p.Thr64=) | gnomAD v4 |
17 | g.42536464C>G | CA500216077 | NAGLU | c.192C>G (p.Thr64=) | |
17 | g.42536464C>T | CA500216074 | NAGLU | c.192C>T (p.Thr64=) | ClinVar gnomAD v4 |
17 | g.42536464_42536465del | CA913012308 | NAGLU | c.192_193del (p.Tyr65GlnfsTer?) | |
17 | g.42536464_42536465delinsCT | CA2260526760 | NAGLU | c.192_193delinsCT (p.Thr64=) | |
17 | g.42536465del | CA658823941 | NAGLU | c.193del (p.Tyr65ThrfsTer?) | ClinVar dbSNP |
17 | g.42536465T>A | CA399595586 | NAGLU | c.193T>A (p.Tyr65Asn) | gnomAD v4 |
17 | g.42536465T>C | CA399595588 | NAGLU | c.193T>C (p.Tyr65His) | ClinVar dbSNP gnomAD v4 |
17 | g.42536465T>G | CA399595590 | NAGLU | c.193T>G (p.Tyr65Asp) | |
17 | g.42536466A>C | CA399595592 | NAGLU | c.194A>C (p.Tyr65Ser) | |
17 | g.42536466A>G | CA399595594 | NAGLU | c.194A>G (p.Tyr65Cys) | gnomAD v4 |
17 | g.42536466A>T | CA399595596 | NAGLU | c.194A>T (p.Tyr65Phe) | gnomAD v4 |
17 | g.42536467_42536468del | CA2637966015 | NAGLU | c.195_196del (p.Tyr65Ter) | gnomAD v4 |
17 | g.42536467C>A | CA399595599 | NAGLU | c.195C>A (p.Tyr65Ter) | gnomAD v4 |
17 | g.42536467C>G | CA399595600 | NAGLU | c.195C>G (p.Tyr65Ter) | gnomAD v4 |
17 | g.42536467C>T | CA500216081 | NAGLU | c.195C>T (p.Tyr65=) | gnomAD v4 |
17 | g.42536468A>C | CA399595604 | NAGLU | c.196A>C (p.Ser66Arg) | |
17 | g.42536468A>G | CA399595606 | NAGLU | c.196A>G (p.Ser66Gly) | gnomAD v4 |
17 | g.42536468A>T | CA399595603 | NAGLU | c.196A>T (p.Ser66Cys) | ClinVar |
17 | g.42536469G>A | CA399595609 | NAGLU | c.197G>A (p.Ser66Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536469G>C | CA399595610 | NAGLU | c.197G>C (p.Ser66Thr) | |
17 | g.42536469G= | CA2260526761 | NAGLU | c.197G= (p.Ser66=) | |
17 | g.42536469G>T | CA290771318 | NAGLU | c.197G>T (p.Ser66Ile) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536470C>A | CA399595613 | NAGLU | c.198C>A (p.Ser66Arg) | gnomAD v4 |
17 | g.42536470C= | CA2260526762 | NAGLU | c.198C= (p.Ser66=) | |
17 | g.42536470C>G | CA399595615 | NAGLU | c.198C>G (p.Ser66Arg) | |
17 | g.42536470C>T | CA500216087 | NAGLU | c.198C>T (p.Ser66=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536471C>A | CA399595617 | NAGLU | c.199C>A (p.Leu67Met) | gnomAD v4 |
17 | g.42536471C= | CA2260526763 | NAGLU | c.199C= (p.Leu67=) | |
17 | g.42536471C>G | CA399595618 | NAGLU | c.199C>G (p.Leu67Val) | |
17 | g.42536471C>T | CA290771328 | NAGLU | c.199C>T (p.Leu67=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536471_42536472insCTG | CA626218535 | NAGLU | c.199_200insCTG (p.Leu67delinsProVal) | dbSNP gnomAD v2 |
17 | g.42536472T>A | CA399595620 | NAGLU | c.200T>A (p.Leu67Gln) | gnomAD v4 |
17 | g.42536472T>C | CA399595622 | NAGLU | c.200T>C (p.Leu67Pro) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536472T>G | CA399595624 | NAGLU | c.200T>G (p.Leu67Arg) | ClinVar gnomAD v4 |
17 | g.42536472T= | CA2260526764 | NAGLU | c.200T= (p.Leu67=) | |
17 | g.42536473G>A | CA500216094 | NAGLU | c.201G>A (p.Leu67=) | ClinVar dbSNP gnomAD v4 |
17 | g.42536473G>C | CA500216091 | NAGLU | c.201G>C (p.Leu67=) | |
17 | g.42536473G= | CA2260526766 | NAGLU | c.201G= (p.Leu67=) | |
17 | g.42536473G>T | CA500216092 | NAGLU | c.201G>T (p.Leu67=) | gnomAD v4 |
17 | g.42536475dup | CA913012309 | NAGLU | c.203dup (p.Gly69ArgfsTer?) | |
17 | g.42536473_42536475dup | CA2637966056 | NAGLU | c.201_203dup (p.Gly68_Gly69insGly) | gnomAD v4 |
17 | g.42536475del | CA2637966057 | NAGLU | c.203del (p.Gly68AlafsTer?) | gnomAD v4 |
17 | g.42536473_42536476delinsGGGC | CA2260526765 | NAGLU | c.201_204delinsGGGC (p.Leu67=) | |
17 | g.42536474G>A | CA399595626 | NAGLU | c.202G>A (p.Gly68Ser) | ClinVar gnomAD v4 |
17 | g.42536474G>C | CA399595628 | NAGLU | c.202G>C (p.Gly68Arg) | gnomAD v4 |
17 | g.42536474G= | CA2260526767 | NAGLU | c.202G= (p.Gly68=) | |
17 | g.42536474G>T | CA399595630 | NAGLU | c.202G>T (p.Gly68Cys) | gnomAD v4 |
17 | g.42536474_42536475insCCG | CA658823942 | NAGLU | c.202_203insCCG (p.Leu67_Gly68insAla) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536484_42536486dup | CA658823943 | NAGLU | c.212_214dup (p.Gly71_Ala72insGly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536481_42536486dup | CA2580613137 | NAGLU | c.209_214dup (p.Gly71_Ala72insGlyGly) | ClinVar dbSNP gnomAD v4 |
17 | g.42536484_42536486del | CA500216095 | NAGLU | c.212_214del (p.Gly71del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536481_42536486del | CA2637966076 | NAGLU | c.209_214del (p.Gly70_Gly71del) | gnomAD v4 |
17 | g.42536475G>A | CA290771335 | NAGLU | c.203G>A (p.Gly68Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536475G>C | CA399595634 | NAGLU | c.203G>C (p.Gly68Ala) | gnomAD v4 |
17 | g.42536475G= | CA2260526768 | NAGLU | c.203G= (p.Gly68=) | |
17 | g.42536475G>T | CA399595632 | NAGLU | c.203G>T (p.Gly68Val) | gnomAD v4 |
17 | g.42536476_42536477del | CA2637966089 | NAGLU | c.204_205del (p.Gly69ArgfsTer?) | gnomAD v4 |
17 | g.42536481_42536491dup | CA983827663 | NAGLU | c.209_219dup (p.Arg74AlafsTer?) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536476del | CA2637966093 | NAGLU | c.204del (p.Gly69AlafsTer?) | gnomAD v4 |
17 | g.42536476C>A | CA500216101 | NAGLU | c.204C>A (p.Gly68=) | gnomAD v4 |
17 | g.42536476C= | CA2260526769 | NAGLU | c.204C= (p.Gly68=) | |
17 | g.42536476C>G | CA500216098 | NAGLU | c.204C>G (p.Gly68=) | gnomAD v4 |
17 | g.42536476C>T | CA500216100 | NAGLU | c.204C>T (p.Gly68=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536477G>A | CA399595638 | NAGLU | c.205G>A (p.Gly69Ser) | gnomAD v4 |
17 | g.42536477G>C | CA399595639 | NAGLU | c.205G>C (p.Gly69Arg) | |
17 | g.42536477G>T | CA399595640 | NAGLU | c.205G>T (p.Gly69Cys) | gnomAD v4 |
17 | g.42536478G>A | CA290771341 | NAGLU | c.206G>A (p.Gly69Asp) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536478G>C | CA399595644 | NAGLU | c.206G>C (p.Gly69Ala) | |
17 | g.42536478G= | CA2260526770 | NAGLU | c.206G= (p.Gly69=) | |
17 | g.42536478G>T | CA399595645 | NAGLU | c.206G>T (p.Gly69Val) | gnomAD v4 |
17 | g.42536479C>A | CA500216102 | NAGLU | c.207C>A (p.Gly69=) | gnomAD v4 |
17 | g.42536479C= | CA2260526771 | NAGLU | c.207C= (p.Gly69=) | |
17 | g.42536479C>G | CA500216103 | NAGLU | c.207C>G (p.Gly69=) | gnomAD v4 |
17 | g.42536479C>T | CA500216104 | NAGLU | c.207C>T (p.Gly69=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536480G>A | CA399595647 | NAGLU | c.208G>A (p.Gly70Ser) | gnomAD v4 |
17 | g.42536480G>C | CA399595649 | NAGLU | c.208G>C (p.Gly70Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536480G= | CA2260526773 | NAGLU | c.208G= (p.Gly70=) | |
17 | g.42536480G>T | CA399595650 | NAGLU | c.208G>T (p.Gly70Cys) | dbSNP gnomAD v4 |
17 | g.42536481dup | CA913012310 | NAGLU | c.209dup (p.Gly71ArgfsTer?) | |
17 | g.42536480_42536504delinsGGCGGCGCGGCGCGCGTGCGGGTGC | CA2260526772 | NAGLU | c.208_232delinsGGCGGCGCGGCGCGCGTGCGGGTGC (p.Gly70=) | |
17 | g.42536481G>A | CA399595653 | NAGLU | c.209G>A (p.Gly70Asp) | gnomAD v4 |
17 | g.42536481G>C | CA399595654 | NAGLU | c.209G>C (p.Gly70Ala) | |
17 | g.42536481G>T | CA399595656 | NAGLU | c.209G>T (p.Gly70Val) | gnomAD v4 |
17 | g.42536489_42536493dup | CA658823944 | NAGLU | c.217_221dup (p.Val75ArgfsTer?) | ClinVar dbSNP gnomAD v4 |
17 | g.42536489_42536493del | CA2637966120 | NAGLU | c.217_221del (p.Ala73ArgfsTer?) | gnomAD v4 |
17 | g.42536486_42536509dup | CA983827698 | NAGLU | c.214_237dup (p.Gly79_Ser80insAlaAlaArgValArgValArgGly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536486_42536509del | CA891844534 | NAGLU | c.214_237del (p.Ala72_Gly79del) | ClinVar dbSNP |
17 | g.42536482C>A | CA500216111 | NAGLU | c.210C>A (p.Gly70=) | gnomAD v4 |
17 | g.42536482C= | CA2260526774 | NAGLU | c.210C= (p.Gly70=) | |
17 | g.42536482C>G | CA500216110 | NAGLU | c.210C>G (p.Gly70=) | |
17 | g.42536482C>T | CA500216109 | NAGLU | c.210C>T (p.Gly70=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536483G>A | CA399595662 | NAGLU | c.211G>A (p.Gly71Ser) | gnomAD v4 |
17 | g.42536483G>C | CA399595660 | NAGLU | c.211G>C (p.Gly71Arg) | |
17 | g.42536483G>T | CA399595659 | NAGLU | c.211G>T (p.Gly71Cys) | gnomAD v4 |
17 | g.42536484del | CA2637966127 | NAGLU | c.212del (p.Gly71AlafsTer?) | gnomAD v4 |
17 | g.42536483_42536502delinsGGCGCGGCGCGCGTGCGGGT | CA2260526775 | NAGLU | c.211_230delinsGGCGCGGCGCGCGTGCGGGT (p.Gly71=) | |
17 | g.42536484_42536503del | CA913012311 | NAGLU | c.212_231del (p.Gly71AlafsTer?) | |
17 | g.42536484G>A | CA399595665 | NAGLU | c.212G>A (p.Gly71Asp) | gnomAD v4 |
17 | g.42536484G>C | CA399595668 | NAGLU | c.212G>C (p.Gly71Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536484G= | CA2260526776 | NAGLU | c.212G= (p.Gly71=) | |
17 | g.42536484G>T | CA399595666 | NAGLU | c.212G>T (p.Gly71Val) | gnomAD v4 |
17 | g.42536491_42536509del | CA626218536 | NAGLU | c.219_237del (p.Arg74ProfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536485C>A | CA500216114 | NAGLU | c.213C>A (p.Gly71=) | gnomAD v4 |
17 | g.42536485C>G | CA500216115 | NAGLU | c.213C>G (p.Gly71=) | |
17 | g.42536485C>T | CA500216113 | NAGLU | c.213C>T (p.Gly71=) | ClinVar gnomAD v3 gnomAD v4 |
17 | g.42536486G>A | CA399595671 | NAGLU | c.214G>A (p.Ala72Thr) | gnomAD v4 |
17 | g.42536486G>C | CA399595672 | NAGLU | c.214G>C (p.Ala72Pro) | ClinVar dbSNP gnomAD v4 |
17 | g.42536486G>T | CA399595675 | NAGLU | c.214G>T (p.Ala72Ser) | gnomAD v4 |
17 | g.42536487del | CA2637966149 | NAGLU | c.215del (p.Ala72GlyfsTer?) | gnomAD v4 |
17 | g.42536487C>A | CA399595677 | NAGLU | c.215C>A (p.Ala72Glu) | gnomAD v4 |
17 | g.42536487C>G | CA399595679 | NAGLU | c.215C>G (p.Ala72Gly) | gnomAD v4 |
17 | g.42536487C>T | CA399595680 | NAGLU | c.215C>T (p.Ala72Val) | gnomAD v4 |
17 | g.42536487_42536488insCTCCAT | CA500216117 | NAGLU | c.215_216insCTCCAT (p.Ala72_Ala73insSerMet) | |
17 | g.42536488G>A | CA500216118 | NAGLU | c.216G>A (p.Ala72=) | gnomAD v4 |
17 | g.42536488G>C | CA500216120 | NAGLU | c.216G>C (p.Ala72=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536488G= | CA2260526777 | NAGLU | c.216G= (p.Ala72=) | |
17 | g.42536488G>T | CA500216119 | NAGLU | c.216G>T (p.Ala72=) | gnomAD v4 |
17 | g.42536489G>A | CA290771350 | NAGLU | c.217G>A (p.Ala73Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536489G>C | CA399595684 | NAGLU | c.217G>C (p.Ala73Pro) | |
17 | g.42536489G= | CA2260526778 | NAGLU | c.217G= (p.Ala73=) | |
17 | g.42536489G>T | CA399595685 | NAGLU | c.217G>T (p.Ala73Ser) | gnomAD v4 |
17 | g.42536494_42536495del | CA2580613138 | NAGLU | c.222_223del (p.Val75AlafsTer?) | ClinVar dbSNP |
17 | g.42536490C>A | CA399595687 | NAGLU | c.218C>A (p.Ala73Glu) | gnomAD v4 |
17 | g.42536490C>G | CA399595688 | NAGLU | c.218C>G (p.Ala73Gly) | gnomAD v4 |
17 | g.42536490C>T | CA399595690 | NAGLU | c.218C>T (p.Ala73Val) | gnomAD v4 |
17 | g.42536490_42536516delinsCGCGCGTGCGGGTGCGCGGCTCCACGG | CA2260526779 | NAGLU | c.218_244delinsCGCGCGTGCGGGTGCGCGGCTCCACGG (p.Ala73=) | |
17 | g.42536494_42536533del | CA2637966167 | NAGLU | c.222_261del (p.Val75GlyfsTer?) | gnomAD v4 |
17 | g.42536491G>A | CA500216127 | NAGLU | c.219G>A (p.Ala73=) | ClinVar dbSNP gnomAD v4 |
17 | g.42536491G>C | CA500216125 | NAGLU | c.219G>C (p.Ala73=) | dbSNP gnomAD v4 |
17 | g.42536491G= | CA2260526780 | NAGLU | c.219G= (p.Ala73=) | |
17 | g.42536491G>T | CA500216126 | NAGLU | c.219G>T (p.Ala73=) | gnomAD v4 |
17 | g.42536491dup | CA913012312 | NAGLU | c.219dup (p.Arg74AlafsTer?) | |
17 | g.42536494_42536519del | CA772109499 | NAGLU | c.222_247del (p.Val75GlyfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536492C>A | CA399595696 | NAGLU | c.220C>A (p.Arg74Ser) | gnomAD v4 |
17 | g.42536492C>G | CA399595692 | NAGLU | c.220C>G (p.Arg74Gly) | |
17 | g.42536492C>T | CA399595694 | NAGLU | c.220C>T (p.Arg74Cys) | gnomAD v4 |
17 | g.42536492dup | CA658823945 | NAGLU | c.220dup (p.Arg74ProfsTer?) | ClinVar dbSNP |
17 | g.42536493G>A | CA399595698 | NAGLU | c.221G>A (p.Arg74His) | gnomAD v4 |
17 | g.42536493G>C | CA399595700 | NAGLU | c.221G>C (p.Arg74Pro) | gnomAD v4 |
17 | g.42536493G>T | CA399595702 | NAGLU | c.221G>T (p.Arg74Leu) | gnomAD v4 |
17 | g.42536494C>A | CA500216130 | NAGLU | c.222C>A (p.Arg74=) | gnomAD v4 |
17 | g.42536494C>G | CA500216132 | NAGLU | c.222C>G (p.Arg74=) | ClinVar dbSNP gnomAD v4 |
17 | g.42536494C>T | CA500216129 | NAGLU | c.222C>T (p.Arg74=) | gnomAD v4 |
17 | g.42536495G>A | CA399595706 | NAGLU | c.223G>A (p.Val75Met) | ClinVar dbSNP gnomAD v4 |
17 | g.42536495G>C | CA399595707 | NAGLU | c.223G>C (p.Val75Leu) | ClinVar dbSNP gnomAD v4 |
17 | g.42536495G= | CA2260526781 | NAGLU | c.223G= (p.Val75=) | |
17 | g.42536495G>T | CA399595710 | NAGLU | c.223G>T (p.Val75Leu) | dbSNP gnomAD v4 |
17 | g.42536496T>A | CA399595712 | NAGLU | c.224T>A (p.Val75Glu) | |
17 | g.42536496T>C | CA399595714 | NAGLU | c.224T>C (p.Val75Ala) | gnomAD v4 |
17 | g.42536496T>G | CA399595716 | NAGLU | c.224T>G (p.Val75Gly) | |
17 | g.42536497G>A | CA500216137 | NAGLU | c.225G>A (p.Val75=) | dbSNP gnomAD v4 |
17 | g.42536497G>C | CA500216135 | NAGLU | c.225G>C (p.Val75=) | |
17 | g.42536497G= | CA2260526782 | NAGLU | c.225G= (p.Val75=) | |
17 | g.42536497G>T | CA500216136 | NAGLU | c.225G>T (p.Val75=) | ClinVar gnomAD v4 |
17 | g.42536501_42536508del | CA2580093762 | NAGLU | c.229_236del (p.Val77LeufsTer?) | ClinVar dbSNP |
17 | g.42536498C>A | CA500216139 | NAGLU | c.226C>A (p.Arg76=) | gnomAD v4 |
17 | g.42536498C= | CA2260526783 | NAGLU | c.226C= (p.Arg76=) | |
17 | g.42536498C>G | CA399595718 | NAGLU | c.226C>G (p.Arg76Gly) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536498C>T | CA399595719 | NAGLU | c.226C>T (p.Arg76Trp) | gnomAD v4 |
17 | g.42536499G>A | CA399595724 | NAGLU | c.227G>A (p.Arg76Gln) | gnomAD v4 |
17 | g.42536499G>C | CA399595723 | NAGLU | c.227G>C (p.Arg76Pro) | gnomAD v4 |
17 | g.42536499G= | CA2260526784 | NAGLU | c.227G= (p.Arg76=) | |
17 | g.42536499G>T | CA399595722 | NAGLU | c.227G>T (p.Arg76Leu) | dbSNP gnomAD v4 |
17 | g.42536500G>A | CA500216144 | NAGLU | c.228G>A (p.Arg76=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536500G>C | CA500216146 | NAGLU | c.228G>C (p.Arg76=) | |
17 | g.42536500G= | CA2260526785 | NAGLU | c.228G= (p.Arg76=) | |
17 | g.42536500G>T | CA500216145 | NAGLU | c.228G>T (p.Arg76=) | gnomAD v4 |
17 | g.42536501G>A | CA399595726 | NAGLU | c.229G>A (p.Val77Met) | gnomAD v4 |
17 | g.42536501G>C | CA399595727 | NAGLU | c.229G>C (p.Val77Leu) | gnomAD v4 |
17 | g.42536501G>T | CA399595729 | NAGLU | c.229G>T (p.Val77Leu) | gnomAD v4 |
17 | g.42536502T>A | CA399595731 | NAGLU | c.230T>A (p.Val77Glu) | |
17 | g.42536502T>C | CA399595733 | NAGLU | c.230T>C (p.Val77Ala) | gnomAD v4 |
17 | g.42536502T>G | CA399595735 | NAGLU | c.230T>G (p.Val77Gly) | ClinVar dbSNP |
17 | g.42536502T= | CA2260526786 | NAGLU | c.230T= (p.Val77=) | |
17 | g.42536503G>A | CA500216149 | NAGLU | c.231G>A (p.Val77=) | gnomAD v4 |
17 | g.42536503G>C | CA290771353 | NAGLU | c.231G>C (p.Val77=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536503G= | CA2260526787 | NAGLU | c.231G= (p.Val77=) | |
17 | g.42536503G>T | CA500216148 | NAGLU | c.231G>T (p.Val77=) | gnomAD v4 |
17 | g.42536506_42536507del | CA2637966237 | NAGLU | c.234_235del (p.Gly79LeufsTer?) | gnomAD v4 |
17 | g.42536504C>A | CA399595736 | NAGLU | c.232C>A (p.Arg78Ser) | gnomAD v4 |
17 | g.42536504C>G | CA399595738 | NAGLU | c.232C>G (p.Arg78Gly) | gnomAD v4 |
17 | g.42536504C>T | CA399595740 | NAGLU | c.232C>T (p.Arg78Cys) | gnomAD v4 |
17 | g.42536505G>A | CA399595743 | NAGLU | c.233G>A (p.Arg78His) | gnomAD v4 |
17 | g.42536505G>C | CA399595744 | NAGLU | c.233G>C (p.Arg78Pro) | gnomAD v4 |
17 | g.42536505G>T | CA399595746 | NAGLU | c.233G>T (p.Arg78Leu) | gnomAD v4 |
17 | g.42536506C>A | CA500216155 | NAGLU | c.234C>A (p.Arg78=) | gnomAD v4 |
17 | g.42536506C>G | CA500216154 | NAGLU | c.234C>G (p.Arg78=) | |
17 | g.42536506C>T | CA500216153 | NAGLU | c.234C>T (p.Arg78=) | ClinVar gnomAD v4 |
17 | g.42536509_42536516dup | CA2740095357 | NAGLU | c.237_244dup (p.Gly82AlafsTer?) | ClinVar |
17 | g.42536507G>A | CA399595752 | NAGLU | c.235G>A (p.Gly79Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536507G>C | CA399595750 | NAGLU | c.235G>C (p.Gly79Arg) | dbSNP |
17 | g.42536507G= | CA2260526788 | NAGLU | c.235G= (p.Gly79=) | |
17 | g.42536507G>T | CA399595748 | NAGLU | c.235G>T (p.Gly79Cys) | ClinVar gnomAD v4 |
17 | g.42536508G>A | CA399595754 | NAGLU | c.236G>A (p.Gly79Asp) | ClinVar gnomAD v4 |
17 | g.42536508G>C | CA399595755 | NAGLU | c.236G>C (p.Gly79Ala) | gnomAD v4 |
17 | g.42536508G>T | CA399595757 | NAGLU | c.236G>T (p.Gly79Val) | gnomAD v4 |
17 | g.42536509C>A | CA500216158 | NAGLU | c.237C>A (p.Gly79=) | gnomAD v4 |
17 | g.42536509C= | CA2260526789 | NAGLU | c.237C= (p.Gly79=) | |
17 | g.42536509C>G | CA500216159 | NAGLU | c.237C>G (p.Gly79=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536509C>T | CA500216160 | NAGLU | c.237C>T (p.Gly79=) | gnomAD v4 |
17 | g.42536510T>A | CA399595759 | NAGLU | c.238T>A (p.Ser80Thr) | |
17 | g.42536510T>C | CA399595761 | NAGLU | c.238T>C (p.Ser80Pro) | gnomAD v4 |
17 | g.42536510T>G | CA399595763 | NAGLU | c.238T>G (p.Ser80Ala) | |
17 | g.42536511C>A | CA399595764 | NAGLU | c.239C>A (p.Ser80Tyr) | gnomAD v4 |
17 | g.42536511C= | CA2260526790 | NAGLU | c.239C= (p.Ser80=) | |
17 | g.42536511C>G | CA399595766 | NAGLU | c.239C>G (p.Ser80Cys) | |
17 | g.42536511C>T | CA399595768 | NAGLU | c.239C>T (p.Ser80Phe) | ClinVar dbSNP gnomAD v4 |
17 | g.42536512C>A | CA500216161 | NAGLU | c.240C>A (p.Ser80=) | gnomAD v4 |
17 | g.42536512C>G | CA500216164 | NAGLU | c.240C>G (p.Ser80=) | |
17 | g.42536512C>T | CA500216162 | NAGLU | c.240C>T (p.Ser80=) | gnomAD v4 |
17 | g.42536513A= | CA2260526791 | NAGLU | c.241A= (p.Thr81=) | |
17 | g.42536513A>C | CA399595769 | NAGLU | c.241A>C (p.Thr81Pro) | |
17 | g.42536513A>G | CA399595771 | NAGLU | c.241A>G (p.Thr81Ala) | ClinVar dbSNP gnomAD v4 |
17 | g.42536513A>T | CA399595773 | NAGLU | c.241A>T (p.Thr81Ser) | |
17 | g.42536513_42536531delinsACGGGCGTGGCGGCCGCCG | CA2260526792 | NAGLU | c.241_259delinsACGGGCGTGGCGGCCGCCG (p.Thr81=) | |
17 | g.42536514C>A | CA399595777 | NAGLU | c.242C>A (p.Thr81Lys) | gnomAD v4 |
17 | g.42536514C= | CA2260526794 | NAGLU | c.242C= (p.Thr81=) | |
17 | g.42536514C>G | CA399595776 | NAGLU | c.242C>G (p.Thr81Arg) | gnomAD v4 |
17 | g.42536514C>T | CA399595774 | NAGLU | c.242C>T (p.Thr81Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536518_42536535del | CA2260526793 | NAGLU | c.246_263del (p.Val83_Gly88del) | dbSNP |
17 | g.42536515G>A | CA500216172 | NAGLU | c.243G>A (p.Thr81=) | gnomAD v4 |
17 | g.42536515G>C | CA500216168 | NAGLU | c.243G>C (p.Thr81=) | gnomAD v4 |
17 | g.42536515G>T | CA500216171 | NAGLU | c.243G>T (p.Thr81=) | ClinVar gnomAD v4 |
17 | g.42536516G>A | CA399595779 | NAGLU | c.244G>A (p.Gly82Ser) | gnomAD v4 |
17 | g.42536516G>C | CA399595782 | NAGLU | c.244G>C (p.Gly82Arg) | |
17 | g.42536516G>T | CA399595781 | NAGLU | c.244G>T (p.Gly82Cys) | gnomAD v4 |
17 | g.42536517G>A | CA399595785 | NAGLU | c.245G>A (p.Gly82Asp) | ClinVar dbSNP gnomAD v4 |
17 | g.42536517G>C | CA399595787 | NAGLU | c.245G>C (p.Gly82Ala) | gnomAD v4 |
17 | g.42536517G= | CA2260526795 | NAGLU | c.245G= (p.Gly82=) | |
17 | g.42536517G>T | CA399595789 | NAGLU | c.245G>T (p.Gly82Val) | gnomAD v4 |
17 | g.42536518C>A | CA500216174 | NAGLU | c.246C>A (p.Gly82=) | gnomAD v4 |
17 | g.42536518C>G | CA500216175 | NAGLU | c.246C>G (p.Gly82=) | gnomAD v4 |
17 | g.42536518C>T | CA500216173 | NAGLU | c.246C>T (p.Gly82=) | gnomAD v4 |
17 | g.42536519G>A | CA399595790 | NAGLU | c.247G>A (p.Val83Met) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536519G>C | CA399595791 | NAGLU | c.247G>C (p.Val83Leu) | gnomAD v4 |
17 | g.42536519G= | CA2260526796 | NAGLU | c.247G= (p.Val83=) | |
17 | g.42536519G>T | CA399595792 | NAGLU | c.247G>T (p.Val83Leu) | gnomAD v4 |
17 | g.42536520T>A | CA399595795 | NAGLU | c.248T>A (p.Val83Glu) | |
17 | g.42536520T>C | CA399595794 | NAGLU | c.248T>C (p.Val83Ala) | gnomAD v4 |
17 | g.42536520T>G | CA399595793 | NAGLU | c.248T>G (p.Val83Gly) | ClinVar |
17 | g.42536521G>A | CA500216178 | NAGLU | c.249G>A (p.Val83=) | ClinVar dbSNP gnomAD v4 |
17 | g.42536521G>C | CA500216177 | NAGLU | c.249G>C (p.Val83=) | |
17 | g.42536521G= | CA2260526797 | NAGLU | c.249G= (p.Val83=) | |
17 | g.42536521G>T | CA500216179 | NAGLU | c.249G>T (p.Val83=) | gnomAD v4 |
17 | g.42536524_42536537del | CA2573154145 | NAGLU | c.252_265del (p.Ala86ProfsTer?) | ClinVar dbSNP |
17 | g.42536522G>A | CA399595796 | NAGLU | c.250G>A (p.Ala84Thr) | gnomAD v4 |
17 | g.42536522G>C | CA399595797 | NAGLU | c.250G>C (p.Ala84Pro) | |
17 | g.42536522G>T | CA399595798 | NAGLU | c.250G>T (p.Ala84Ser) | gnomAD v4 |
17 | g.42536523C>A | CA399595799 | NAGLU | c.251C>A (p.Ala84Glu) c.1C>A | gnomAD v4 |
17 | g.42536523C>G | CA399595800 | NAGLU | c.251C>G (p.Ala84Gly) c.1C>G | gnomAD v4 |
17 | g.42536523C>T | CA399595801 | NAGLU | c.251C>T (p.Ala84Val) c.1C>T | gnomAD v4 |
17 | g.42536524G>A | CA500216182 | NAGLU | c.252G>A (p.Ala84=) c.2G>A | ClinVar gnomAD v4 |
17 | g.42536524G>C | CA500216184 | NAGLU | c.252G>C (p.Ala84=) c.2G>C | gnomAD v4 |
17 | g.42536524G>T | CA500216183 | NAGLU | c.252G>T (p.Ala84=) c.2G>T | gnomAD v4 |
17 | g.42536525G>A | CA399595802 | NAGLU | c.253G>A (p.Ala85Thr) c.3G>A | gnomAD v4 |
17 | g.42536525G>C | CA399595804 | NAGLU | c.253G>C (p.Ala85Pro) c.3G>C | |
17 | g.42536525G>T | CA399595803 | NAGLU | c.253G>T (p.Ala85Ser) c.3G>T | gnomAD v4 |
17 | g.42536526C>A | CA399595806 | NAGLU | c.254C>A (p.Ala85Asp) c.4C>A | gnomAD v4 |
17 | g.42536526C= | CA2260526798 | NAGLU | c.254C= (p.Ala85=) c.4C= | |
17 | g.42536526C>G | CA399595808 | NAGLU | c.254C>G (p.Ala85Gly) c.4C>G | dbSNP |
17 | g.42536526C>T | CA399595809 | NAGLU | c.254C>T (p.Ala85Val) c.4C>T | gnomAD v4 |
17 | g.42536527dup | CA913012313 | NAGLU | c.255dup (p.Ala86ArgfsTer?) c.5dup | |
17 | g.42536527C>A | CA500216188 | NAGLU | c.255C>A (p.Ala85=) c.5C>A | gnomAD v4 |
17 | g.42536527C= | CA2260526799 | NAGLU | c.255C= (p.Ala85=) c.5C= | |
17 | g.42536527C>G | CA500216191 | NAGLU | c.255C>G (p.Ala85=) c.5C>G | gnomAD v4 |
17 | g.42536527C>T | CA500216186 | NAGLU | c.255C>T (p.Ala85=) c.5C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536528G>A | CA399595811 | NAGLU | c.256G>A (p.Ala86Thr) c.6G>A | gnomAD v4 |
17 | g.42536528G>C | CA399595813 | NAGLU | c.256G>C (p.Ala86Pro) c.6G>C | gnomAD v4 |
17 | g.42536528G= | CA2260526800 | NAGLU | c.256G= (p.Ala86=) c.6G= | |
17 | g.42536528G>T | CA399595815 | NAGLU | c.256G>T (p.Ala86Ser) c.6G>T | dbSNP gnomAD v4 |
17 | g.42536529_42536534dup | CA658823946 | NAGLU | c.257_262dup (p.Ala87_Gly88insAlaAla) c.7_12dup | ClinVar dbSNP |
17 | g.42536529C>A | CA399595820 | NAGLU | c.257C>A (p.Ala86Asp) c.7C>A | gnomAD v4 |
17 | g.42536529C>G | CA399595821 | NAGLU | c.257C>G (p.Ala86Gly) c.7C>G | |
17 | g.42536529C>T | CA399595823 | NAGLU | c.257C>T (p.Ala86Val) c.7C>T | gnomAD v4 |
17 | g.42536530C>A | CA399595825 | NAGLU | c.258C>A (p.Ala86=) c.8C>A c.1C>A (p.Arg1Ser) | gnomAD v4 |
17 | g.42536530C= | CA2260526801 | NAGLU | c.258C= (p.Ala86=) c.8C= c.1C= (p.Arg1=) | |
17 | g.42536530C>G | CA399595826 | NAGLU | c.258C>G (p.Ala86=) c.8C>G c.1C>G (p.Arg1Gly) | ClinVar dbSNP |
17 | g.42536530C>T | CA399595827 | NAGLU | c.258C>T (p.Ala86=) c.8C>T c.1C>T (p.Arg1Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536531G>A | CA399595828 | NAGLU | c.259G>A (p.Ala87Thr) c.9G>A c.2G>A (p.Arg1His) | gnomAD v4 |
17 | g.42536531G>C | CA399595830 | NAGLU | c.259G>C (p.Ala87Pro) c.9G>C c.2G>C (p.Arg1Pro) | gnomAD v4 |
17 | g.42536531G= | CA2260526802 | NAGLU | c.259G= (p.Ala87=) c.9G= c.2G= (p.Arg1=) | |
17 | g.42536531G>T | CA399595829 | NAGLU | c.259G>T (p.Ala87Ser) c.9G>T c.2G>T (p.Arg1Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536532del | CA2637966324 | NAGLU | c.260del (p.Ala87GlyfsTer?) c.10del c.3del (p.Ala3LeufsTer?) | gnomAD v4 |
17 | g.42536532C>A | CA399595831 | NAGLU | c.260C>A (p.Ala87Glu) c.10C>A c.3C>A (p.Arg1=) | gnomAD v4 |
17 | g.42536532C= | CA2260526803 | NAGLU | c.260C= (p.Ala87=) c.10C= c.3C= (p.Arg1=) | |
17 | g.42536532C>G | CA399595832 | NAGLU | c.260C>G (p.Ala87Gly) c.10C>G c.3C>G (p.Arg1=) | |
17 | g.42536532C>T | CA399595833 | NAGLU | c.260C>T (p.Ala87Val) c.10C>T c.3C>T (p.Arg1=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536533G>A | CA399595834 | NAGLU | c.261G>A (p.Ala87=) c.11G>A c.4G>A (p.Gly2Arg) | gnomAD v4 |
17 | g.42536533G>C | CA399595835 | NAGLU | c.261G>C (p.Ala87=) c.11G>C c.4G>C (p.Gly2Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536533G= | CA2260526804 | NAGLU | c.261G= (p.Ala87=) c.11G= c.4G= (p.Gly2=) | |
17 | g.42536533G>T | CA399595837 | NAGLU | c.261G>T (p.Ala87=) c.11G>T c.4G>T (p.Gly2Trp) | ClinVar gnomAD v4 |
17 | g.42536536del | CA2637966325 | NAGLU | c.264del (p.Leu89CysfsTer?) c.14del c.7del (p.Ala3LeufsTer?) | gnomAD v4 |
17 | g.42536534G>A | CA399595839 | NAGLU | c.262G>A (p.Gly88Arg) c.12G>A c.5G>A (p.Gly2Glu) | gnomAD v4 |
17 | g.42536534G>C | CA399595842 | NAGLU | c.262G>C (p.Gly88Arg) c.12G>C c.5G>C (p.Gly2Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536534G= | CA2260526805 | NAGLU | c.262G= (p.Gly88=) c.12G= c.5G= (p.Gly2=) | |
17 | g.42536534G>T | CA399595844 | NAGLU | c.262G>T (p.Gly88Trp) c.12G>T c.5G>T (p.Gly2Val) | gnomAD v4 |
17 | g.42536535G>A | CA399595845 | NAGLU | c.263G>A (p.Gly88Glu) c.13G>A c.6G>A (p.Gly2=) | |
17 | g.42536535G>C | CA399595847 | NAGLU | c.263G>C (p.Gly88Ala) c.13G>C c.6G>C (p.Gly2=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536535G= | CA2260526806 | NAGLU | c.263G= (p.Gly88=) c.13G= c.6G= (p.Gly2=) | |
17 | g.42536535G>T | CA399595849 | NAGLU | c.263G>T (p.Gly88Val) c.13G>T c.6G>T (p.Gly2=) | gnomAD v4 |
17 | g.42536536G>A | CA290771356 | NAGLU | c.264G>A (p.Gly88=) c.14G>A c.7G>A (p.Ala3Thr) | dbSNP gnomAD v4 |
17 | g.42536536G>C | CA399595855 | NAGLU | c.264G>C (p.Gly88=) c.14G>C c.7G>C (p.Ala3Pro) | |
17 | g.42536536G= | CA2260526807 | NAGLU | c.264G= (p.Gly88=) c.14G= c.7G= (p.Ala3=) | |
17 | g.42536536G>T | CA399595852 | NAGLU | c.264G>T (p.Gly88=) c.14G>T c.7G>T (p.Ala3Ser) | |
17 | g.42536537C>A | CA399595857 | NAGLU | c.265C>A (p.Leu89Met) c.15C>A c.8C>A (p.Ala3Asp) | gnomAD v4 |
17 | g.42536537C>G | CA399595858 | NAGLU | c.265C>G (p.Leu89Val) c.15C>G c.8C>G (p.Ala3Gly) | |
17 | g.42536537C>T | CA399595859 | NAGLU | c.265C>T (p.Leu89=) c.15C>T c.8C>T (p.Ala3Val) | ClinVar dbSNP |
17 | g.42536538T>A | CA399595861 | NAGLU | c.266T>A (p.Leu89Gln) c.16T>A c.9T>A (p.Ala3=) | |
17 | g.42536538T>C | CA399595863 | NAGLU | c.266T>C (p.Leu89Pro) c.16T>C c.9T>C (p.Ala3=) | gnomAD v4 |
17 | g.42536538T>G | CA399595869 | NAGLU | c.266T>G (p.Leu89Arg) c.16T>G c.9T>G (p.Ala3=) | |
17 | g.42536539G>A | CA399595871 | NAGLU | c.267G>A (p.Leu89=) c.17G>A c.10G>A (p.Ala4Thr) | ClinVar dbSNP gnomAD v4 |
17 | g.42536539G>C | CA399595874 | NAGLU | c.267G>C (p.Leu89=) c.17G>C c.10G>C (p.Ala4Pro) | |
17 | g.42536539G>T | CA399595875 | NAGLU | c.267G>T (p.Leu89=) c.17G>T c.10G>T (p.Ala4Ser) | gnomAD v4 |
17 | g.42536540C>A | CA399595876 | NAGLU | c.268C>A (p.His90Asn) c.18C>A c.11C>A (p.Ala4Glu) c.-475C>A (n.-475C>A) | ClinVar dbSNP gnomAD v4 |
17 | g.42536540C= | CA2260526808 | NAGLU | c.268C= (p.His90=) c.18C= c.11C= (p.Ala4=) c.-475C= (n.-475C=) | |
17 | g.42536540C>G | CA399595877 | NAGLU | c.268C>G (p.His90Asp) c.18C>G c.11C>G (p.Ala4Gly) c.-475C>G (n.-475C>G) | |
17 | g.42536540C>T | CA290771358 | NAGLU | c.268C>T (p.His90Tyr) c.18C>T c.11C>T (p.Ala4Val) c.-475C>T (n.-475C>T) | ClinVar dbSNP gnomAD v4 |
17 | g.42536541A>C | CA399595878 | NAGLU | c.269A>C (p.His90Pro) c.19A>C c.12A>C (p.Ala4=) c.-474A>C (n.-474A>C) | |
17 | g.42536541A>G | CA399595880 | NAGLU | c.269A>G (p.His90Arg) c.19A>G c.12A>G (p.Ala4=) c.-474A>G (n.-474A>G) | gnomAD v4 |
17 | g.42536541A>T | CA399595879 | NAGLU | c.269A>T (p.His90Leu) c.19A>T c.12A>T (p.Ala4=) c.-474A>T (n.-474A>T) | gnomAD v4 |
17 | g.42536542C>A | CA399595881 | NAGLU | c.270C>A (p.His90Gln) c.20C>A c.13C>A (p.Pro5Thr) c.-473C>A (n.-473C>A) | gnomAD v4 |
17 | g.42536542C= | CA2260526809 | NAGLU | c.270C= (p.His90=) c.20C= c.13C= (p.Pro5=) c.-473C= (n.-473C=) | |
17 | g.42536542C>G | CA399595883 | NAGLU | c.270C>G (p.His90Gln) c.20C>G c.13C>G (p.Pro5Ala) c.-473C>G (n.-473C>G) | dbSNP gnomAD v4 |
17 | g.42536542C>T | CA399595884 | NAGLU | c.270C>T (p.His90=) c.20C>T c.13C>T (p.Pro5Ser) c.-473C>T (n.-473C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536543C>A | CA399595886 | NAGLU | c.271C>A (p.Arg91Ser) c.21C>A c.14C>A (p.Pro5Gln) c.-472C>A (n.-472C>A) | gnomAD v4 |
17 | g.42536543C>G | CA399595887 | NAGLU | c.271C>G (p.Arg91Gly) c.21C>G c.14C>G (p.Pro5Arg) c.-472C>G (n.-472C>G) | gnomAD v4 |
17 | g.42536543C>T | CA399595889 | NAGLU | c.271C>T (p.Arg91Cys) c.21C>T c.14C>T (p.Pro5Leu) c.-472C>T (n.-472C>T) | gnomAD v4 |
17 | g.42536544G>A | CA399595895 | NAGLU | c.272G>A (p.Arg91His) c.22G>A c.15G>A (p.Pro5=) c.-471G>A (n.-471G>A) | gnomAD v4 |
17 | g.42536544G>C | CA399595892 | NAGLU | c.272G>C (p.Arg91Pro) c.22G>C c.15G>C (p.Pro5=) c.-471G>C (n.-471G>C) | |
17 | g.42536544G>T | CA399595893 | NAGLU | c.272G>T (p.Arg91Leu) c.22G>T c.15G>T (p.Pro5=) c.-471G>T (n.-471G>T) | gnomAD v4 |
17 | g.42536545C>A | CA399595899 | NAGLU | c.273C>A (p.Arg91=) c.23C>A c.16C>A (p.Leu6Ile) c.-470C>A (n.-470C>A) | gnomAD v4 |
17 | g.42536545C>G | CA399595901 | NAGLU | c.273C>G (p.Arg91=) c.23C>G c.16C>G (p.Leu6Val) c.-470C>G (n.-470C>G) | |
17 | g.42536545C>T | CA500215710 | NAGLU | c.273C>T (p.Arg91=) c.23C>T c.16C>T (p.Leu6=) c.-470C>T (n.-470C>T) | ClinVar dbSNP gnomAD v4 |
17 | g.42536546T>A | CA399595902 | NAGLU | c.274T>A (p.Tyr92Asn) c.24T>A c.17T>A (p.Leu6Gln) c.-469T>A (n.-469T>A) | |
17 | g.42536546T>C | CA399595903 | NAGLU | c.274T>C (p.Tyr92His) c.24T>C c.17T>C (p.Leu6Pro) c.-469T>C (n.-469T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536546T>G | CA399595904 | NAGLU | c.274T>G (p.Tyr92Asp) c.24T>G c.17T>G (p.Leu6Arg) c.-469T>G (n.-469T>G) | |
17 | g.42536546T= | CA2260526810 | NAGLU | c.274T= (p.Tyr92=) c.24T= c.17T= (p.Leu6=) c.-469T= (n.-469T=) | |
17 | g.42536547A= | CA2260526811 | NAGLU | c.275A= (p.Tyr92=) c.25A= c.18A= (p.Leu6=) c.-468A= (n.-468A=) | |
17 | g.42536547A>C | CA399595907 | NAGLU | c.275A>C (p.Tyr92Ser) c.25A>C c.18A>C (p.Leu6=) c.-468A>C (n.-468A>C) | |
17 | g.42536547A>G | CA290771361 | NAGLU | c.275A>G (p.Tyr92Cys) c.25A>G c.18A>G (p.Leu6=) c.-468A>G (n.-468A>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536547A>T | CA399595905 | NAGLU | c.275A>T (p.Tyr92Phe) c.25A>T c.18A>T (p.Leu6=) c.-468A>T (n.-468A>T) |