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.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 |
17 | g.42536381G>A | CA399595326 | NAGLU | c.109G>A (p.Ala37Thr)
| gnomAD v4 |
17 | g.42536381G>C | CA399595327 | NAGLU | c.109G>C (p.Ala37Pro)
| gnomAD v4 |
17 | g.42536381G= | CA2260526720 | NAGLU | c.109G= (p.Ala37=)
| |
17 | g.42536381G>T | CA399595328 | NAGLU | c.109G>T (p.Ala37Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536382C>A | CA399595329 | NAGLU | c.110C>A (p.Ala37Asp)
| gnomAD v4 |
17 | g.42536382C>G | CA399595330 | NAGLU | c.110C>G (p.Ala37Gly)
| gnomAD v4 |
17 | g.42536382C>T | CA399595331 | NAGLU | c.110C>T (p.Ala37Val)
| gnomAD v4 |
17 | g.42536384del | CA2637965729 | NAGLU | c.112del (p.Arg38GlyfsTer?)
| gnomAD v4 |
17 | g.42536383C>A | CA500215866 | NAGLU | c.111C>A (p.Ala37=)
| gnomAD v4 |
17 | g.42536383C>G | CA500215863 | NAGLU | c.111C>G (p.Ala37=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536383C>T | CA500215869 | NAGLU | c.111C>T (p.Ala37=)
| gnomAD v4 |
17 | g.42536383_42536392delinsAGCC | CA2580093746 | NAGLU | c.111_120delinsAGCC (p.Arg38_Leu40delinsAla)
| ClinVar dbSNP |
17 | g.42536384C>A | CA500215871 | NAGLU | c.112C>A (p.Arg38=)
| dbSNP gnomAD v4 |
17 | g.42536384C= | CA2260526721 | NAGLU | c.112C= (p.Arg38=)
| |
17 | g.42536384C>G | CA399595332 | NAGLU | c.112C>G (p.Arg38Gly)
| |
17 | g.42536384C>T | CA399595333 | NAGLU | c.112C>T (p.Arg38Trp)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536385G>A | CA399595334 | NAGLU | c.113G>A (p.Arg38Gln)
| gnomAD v4 |
17 | g.42536385G>C | CA399595335 | NAGLU | c.113G>C (p.Arg38Pro)
| gnomAD v4 |
17 | g.42536385G>T | CA399595336 | NAGLU | c.113G>T (p.Arg38Leu)
| gnomAD v4 |
17 | g.42536387_42536394del | CA2573154144 | NAGLU | c.115_122del (p.Leu39AlafsTer?)
| dbSNP |
17 | g.42536386G>A | CA500215872 | NAGLU | c.114G>A (p.Arg38=)
| gnomAD v4 |
17 | g.42536386G>C | CA500215875 | NAGLU | c.114G>C (p.Arg38=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536386G= | CA2260526722 | NAGLU | c.114G= (p.Arg38=)
| |
17 | g.42536386G>T | CA500215873 | NAGLU | c.114G>T (p.Arg38=)
| gnomAD v4 |
17 | g.42536387C>A | CA399595337 | NAGLU | c.115C>A (p.Leu39Met)
| gnomAD v4 |
17 | g.42536387C>G | CA399595338 | NAGLU | c.115C>G (p.Leu39Val)
| gnomAD v4 |
17 | g.42536387C>T | CA500215877 | NAGLU | c.115C>T (p.Leu39=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536388T>A | CA399595339 | NAGLU | c.116T>A (p.Leu39Gln)
| |
17 | g.42536388T>C | CA399595340 | NAGLU | c.116T>C (p.Leu39Pro)
| gnomAD v4 |
17 | g.42536388T>G | CA399595341 | NAGLU | c.116T>G (p.Leu39Arg)
| |
17 | g.42536389G>A | CA500215878 | NAGLU | c.117G>A (p.Leu39=)
| dbSNP gnomAD v4 |
17 | g.42536389G>C | CA500215879 | NAGLU | c.117G>C (p.Leu39=)
| |
17 | g.42536389G= | CA2260526723 | NAGLU | c.117G= (p.Leu39=)
| |
17 | g.42536389G>T | CA500215881 | NAGLU | c.117G>T (p.Leu39=)
| gnomAD v4 |
17 | g.42536390C>A | CA399595342 | NAGLU | c.118C>A (p.Leu40Met)
| gnomAD v4 |
17 | g.42536390C>G | CA399595343 | NAGLU | c.118C>G (p.Leu40Val)
| gnomAD v4 |
17 | g.42536390C>T | CA500215884 | NAGLU | c.118C>T (p.Leu40=)
| gnomAD v4 |
17 | g.42536391T>A | CA399595344 | NAGLU | c.119T>A (p.Leu40Gln)
| |
17 | g.42536391T>C | CA399595346 | NAGLU | c.119T>C (p.Leu40Pro)
| gnomAD v4 |
17 | g.42536391T>G | CA399595347 | NAGLU | c.119T>G (p.Leu40Arg)
| ClinVar |
17 | g.42536392G>A | CA500215887 | NAGLU | c.120G>A (p.Leu40=)
| ClinVar gnomAD v4 |
17 | g.42536392G>C | CA500215885 | NAGLU | c.120G>C (p.Leu40=)
| |
17 | g.42536392G>T | CA500215886 | NAGLU | c.120G>T (p.Leu40=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536395del | CA2637965748 | NAGLU | c.123del (p.Pro42GlnfsTer?)
| gnomAD v4 |
17 | g.42536393G>A | CA399595350 | NAGLU | c.121G>A (p.Gly41Arg)
| gnomAD v4 |
17 | g.42536393G>C | CA399595351 | NAGLU | c.121G>C (p.Gly41Arg)
| gnomAD v4 |
17 | g.42536393G>T | CA399595349 | NAGLU | c.121G>T (p.Gly41Trp)
| gnomAD v4 |
17 | g.42536394G>A | CA399595354 | NAGLU | c.122G>A (p.Gly41Glu)
| gnomAD v4 |
17 | g.42536394G>C | CA399595352 | NAGLU | c.122G>C (p.Gly41Ala)
| |
17 | g.42536394G>T | CA399595353 | NAGLU | c.122G>T (p.Gly41Val)
| gnomAD v4 |
17 | g.42536395G>A | CA500215894 | NAGLU | c.123G>A (p.Gly41=)
| gnomAD v4 |
17 | g.42536395G>C | CA500215893 | NAGLU | c.123G>C (p.Gly41=)
| |
17 | g.42536395G= | CA2260526724 | NAGLU | c.123G= (p.Gly41=)
| |
17 | g.42536395G>T | CA500215895 | NAGLU | c.123G>T (p.Gly41=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536396C>A | CA399595355 | NAGLU | c.124C>A (p.Pro42Thr)
| gnomAD v4 |
17 | g.42536396C>G | CA399595356 | NAGLU | c.124C>G (p.Pro42Ala)
| gnomAD v4 |
17 | g.42536396C>T | CA399595357 | NAGLU | c.124C>T (p.Pro42Ser)
| gnomAD v4 |
17 | g.42536397del | CA2637965755 | NAGLU | c.125del (p.Pro42GlnfsTer?)
| gnomAD v4 |
17 | g.42536397C>A | CA399595358 | NAGLU | c.125C>A (p.Pro42Gln)
| gnomAD v4 |
17 | g.42536397C= | CA2260526725 | NAGLU | c.125C= (p.Pro42=)
| |
17 | g.42536397C>G | CA399595359 | NAGLU | c.125C>G (p.Pro42Arg)
| gnomAD v4 |
17 | g.42536397C>T | CA399595360 | NAGLU | c.125C>T (p.Pro42Leu)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536398A= | CA2260526726 | NAGLU | c.126A= (p.Pro42=)
| |
17 | g.42536398A>C | CA500215900 | NAGLU | c.126A>C (p.Pro42=)
| |
17 | g.42536398A>G | CA500215902 | NAGLU | c.126A>G (p.Pro42=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536398A>T | CA500215904 | NAGLU | c.126A>T (p.Pro42=)
| gnomAD v4 |
17 | g.42536399G>A | CA399595361 | NAGLU | c.127G>A (p.Gly43Ser)
| gnomAD v4 |
17 | g.42536399G>C | CA399595362 | NAGLU | c.127G>C (p.Gly43Arg)
| gnomAD v4 |
17 | g.42536399G>T | CA399595363 | NAGLU | c.127G>T (p.Gly43Cys)
| dbSNP gnomAD v4 |
17 | g.42536400G>A | CA399595364 | NAGLU | c.128G>A (p.Gly43Asp)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536400G>C | CA399595365 | NAGLU | c.128G>C (p.Gly43Ala)
| |
17 | g.42536400G= | CA2260526727 | NAGLU | c.128G= (p.Gly43=)
| |
17 | g.42536400G>T | CA399595366 | NAGLU | c.128G>T (p.Gly43Val)
| gnomAD v4 |
17 | g.42536401C>A | CA500215909 | NAGLU | c.129C>A (p.Gly43=)
| ClinVar gnomAD v4 |
17 | g.42536401C>G | CA500215908 | NAGLU | c.129C>G (p.Gly43=)
| |
17 | g.42536401C>T | CA500215907 | NAGLU | c.129C>T (p.Gly43=)
| gnomAD v4 |
17 | g.42536404del | CA2637965761 | NAGLU | c.132del (p.Ala45ArgfsTer?)
| gnomAD v4 |
17 | g.42536402C>A | CA399595369 | NAGLU | c.130C>A (p.Pro44Thr)
| gnomAD v4 |
17 | g.42536402C>G | CA399595368 | NAGLU | c.130C>G (p.Pro44Ala)
| |
17 | g.42536402C>T | CA399595367 | NAGLU | c.130C>T (p.Pro44Ser)
| gnomAD v4 |
17 | g.42536403C>A | CA399595370 | NAGLU | c.131C>A (p.Pro44His)
| gnomAD v4 |
17 | g.42536403C>G | CA399595371 | NAGLU | c.131C>G (p.Pro44Arg)
| gnomAD v4 |
17 | g.42536403C>T | CA399595372 | NAGLU | c.131C>T (p.Pro44Leu)
| gnomAD v4 |
17 | g.42536404C>A | CA500215916 | NAGLU | c.132C>A (p.Pro44=)
| ClinVar gnomAD v4 |
17 | g.42536404C= | CA2260526728 | NAGLU | c.132C= (p.Pro44=)
| |
17 | g.42536404C>G | CA500215920 | NAGLU | c.132C>G (p.Pro44=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536404C>T | CA500215914 | NAGLU | c.132C>T (p.Pro44=)
| gnomAD v4 |
17 | g.42536404_42536405insT | CA2637965770 | NAGLU | c.132_133insT (p.Ala45CysfsTer?)
| gnomAD v4 |
17 | g.42536405G>A | CA399595373 | NAGLU | c.133G>A (p.Ala45Thr)
| gnomAD v4 |
17 | g.42536405G>C | CA399595374 | NAGLU | c.133G>C (p.Ala45Pro)
| gnomAD v4 |
17 | g.42536405G>T | CA399595375 | NAGLU | c.133G>T (p.Ala45Ser)
| gnomAD v4 |
17 | g.42536406C>A | CA399595376 | NAGLU | c.134C>A (p.Ala45Glu)
| gnomAD v4 |
17 | g.42536406C= | CA2260526729 | NAGLU | c.134C= (p.Ala45=)
| |
17 | g.42536406C>G | CA399595377 | NAGLU | c.134C>G (p.Ala45Gly)
| gnomAD v4 |
17 | g.42536406C>T | CA399595378 | NAGLU | c.134C>T (p.Ala45Val)
| dbSNP gnomAD v4 |
17 | g.42536407G>A | CA500215926 | NAGLU | c.135G>A (p.Ala45=)
| dbSNP gnomAD v4 |
17 | g.42536407G>C | CA500215924 | NAGLU | c.135G>C (p.Ala45=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536407G= | CA2260526730 | NAGLU | c.135G= (p.Ala45=)
| |
17 | g.42536407G>T | CA500215929 | NAGLU | c.135G>T (p.Ala45=)
| gnomAD v4 |
17 | g.42536408del | CA2499224327 | NAGLU | c.136del (p.Ala46ProfsTer?)
| ClinVar dbSNP |
17 | g.42536408G>A | CA399595379 | NAGLU | c.136G>A (p.Ala46Thr)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536408G>C | CA399595380 | NAGLU | c.136G>C (p.Ala46Pro)
| gnomAD v4 |
17 | g.42536408G= | CA2260526731 | NAGLU | c.136G= (p.Ala46=)
| |
17 | g.42536408G>T | CA399595382 | NAGLU | c.136G>T (p.Ala46Ser)
| gnomAD v4 |
17 | g.42536409C>A | CA399595384 | NAGLU | c.137C>A (p.Ala46Asp)
| dbSNP gnomAD v4 |
17 | g.42536409C= | CA2260526732 | NAGLU | c.137C= (p.Ala46=)
| |
17 | g.42536409C>G | CA399595386 | NAGLU | c.137C>G (p.Ala46Gly)
| gnomAD v4 |
17 | g.42536409C>T | CA399595387 | NAGLU | c.137C>T (p.Ala46Val)
| gnomAD v4 |
17 | g.42536410C>A | CA500215932 | NAGLU | c.138C>A (p.Ala46=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536410C>G | CA500215935 | NAGLU | c.138C>G (p.Ala46=)
| gnomAD v4 |
17 | g.42536410C>T | CA500215934 | NAGLU | c.138C>T (p.Ala46=)
| gnomAD v4 |
17 | g.42536411del | CA2843412944 | NAGLU | c.139del (p.Asp47ThrfsTer?)
| |
17 | g.42536411G>A | CA399595390 | NAGLU | c.139G>A (p.Asp47Asn)
| gnomAD v4 |
17 | g.42536411G>C | CA399595392 | NAGLU | c.139G>C (p.Asp47His)
| gnomAD v4 |
17 | g.42536411G>T | CA399595388 | NAGLU | c.139G>T (p.Asp47Tyr)
| gnomAD v4 |
17 | g.42536412A>C | CA399595393 | NAGLU | c.140A>C (p.Asp47Ala)
| |
17 | g.42536412A>G | CA399595394 | NAGLU | c.140A>G (p.Asp47Gly)
| gnomAD v4 |
17 | g.42536412A>T | CA399595395 | NAGLU | c.140A>T (p.Asp47Val)
| gnomAD v4 |
17 | g.42536413C>A | CA399595396 | NAGLU | c.141C>A (p.Asp47Glu)
| gnomAD v4 |
17 | g.42536413C>G | CA399595398 | NAGLU | c.141C>G (p.Asp47Glu)
| gnomAD v4 |
17 | g.42536413C>T | CA500215943 | NAGLU | c.141C>T (p.Asp47=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536415_42536417del | CA2637965802 | NAGLU | c.143_145del (p.Phe48del)
| gnomAD v4 |
17 | g.42536414T>A | CA399595401 | NAGLU | c.142T>A (p.Phe48Ile)
| |
17 | g.42536414T>C | CA115052 | NAGLU | c.142T>C (p.Phe48Leu)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536414T>G | CA399595404 | NAGLU | c.142T>G (p.Phe48Val)
| |
17 | g.42536414T= | CA2260526733 | NAGLU | c.142T= (p.Phe48=)
| |
17 | g.42536415T>A | CA399595405 | NAGLU | c.143T>A (p.Phe48Tyr)
| |
17 | g.42536415T>C | CA399595406 | NAGLU | c.143T>C (p.Phe48Ser)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536415T>G | CA290771264 | NAGLU | c.143T>G (p.Phe48Cys)
| dbSNP gnomAD v4 |
17 | g.42536415T= | CA2260526734 | NAGLU | c.143T= (p.Phe48=)
| |
17 | g.42536415_42536418delinsTCTC | CA2260526735 | NAGLU | c.143_146delinsTCTC (p.Phe48=)
| |
17 | g.42536416C>A | CA290771267 | NAGLU | c.144C>A (p.Phe48Leu)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536416C= | CA2260526736 | NAGLU | c.144C= (p.Phe48=)
| |
17 | g.42536416C>G | CA399595410 | NAGLU | c.144C>G (p.Phe48Leu)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536416C>T | CA500215951 | NAGLU | c.144C>T (p.Phe48=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536417_42536419del | CA983827601 | NAGLU | c.145_147del (p.Ser49del)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536417T>A | CA399595414 | NAGLU | c.145T>A (p.Ser49Thr)
| |
17 | g.42536417T>C | CA399595412 | NAGLU | c.145T>C (p.Ser49Pro)
| gnomAD v4 |
17 | g.42536417T>G | CA290771270 | NAGLU | c.145T>G (p.Ser49Ala)
| dbSNP |
17 | g.42536417T= | CA2260526737 | NAGLU | c.145T= (p.Ser49=)
| |
17 | g.42536418C>A | CA399595416 | NAGLU | c.146C>A (p.Ser49Tyr)
| gnomAD v4 |
17 | g.42536418C= | CA2260526738 | NAGLU | c.146C= (p.Ser49=)
| |
17 | g.42536418C>G | CA399595418 | NAGLU | c.146C>G (p.Ser49Cys)
| gnomAD v4 |
17 | g.42536418C>T | CA290771275 | NAGLU | c.146C>T (p.Ser49Phe)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536419del | CA2580093754 | NAGLU | c.147del (p.Val50CysfsTer?)
| ClinVar |
17 | g.42536419C>A | CA500215957 | NAGLU | c.147C>A (p.Ser49=)
| gnomAD v4 |
17 | g.42536419C= | CA2260526739 | NAGLU | c.147C= (p.Ser49=)
| |
17 | g.42536419C>G | CA500215960 | NAGLU | c.147C>G (p.Ser49=)
| ClinVar dbSNP |
17 | g.42536419C>T | CA500215964 | NAGLU | c.147C>T (p.Ser49=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536420G>A | CA399595421 | NAGLU | c.148G>A (p.Val50Met)
| gnomAD v4 |
17 | g.42536420G>C | CA399595423 | NAGLU | c.148G>C (p.Val50Leu)
| ClinVar gnomAD v4 |
17 | g.42536420G>T | CA399595425 | NAGLU | c.148G>T (p.Val50Leu)
| gnomAD v4 |
17 | g.42536421T>A | CA399595428 | NAGLU | c.149T>A (p.Val50Glu)
| |
17 | g.42536421T>C | CA399595430 | NAGLU | c.149T>C (p.Val50Ala)
| gnomAD v4 |
17 | g.42536421T>G | CA399595431 | NAGLU | c.149T>G (p.Val50Gly)
| |
17 | g.42536422G>A | CA500215969 | NAGLU | c.150G>A (p.Val50=)
| gnomAD v4 |
17 | g.42536422G>C | CA500215971 | NAGLU | c.150G>C (p.Val50=)
| dbSNP |
17 | g.42536422G= | CA2260526740 | NAGLU | c.150G= (p.Val50=)
| |
17 | g.42536422G>T | CA500215970 | NAGLU | c.150G>T (p.Val50=)
| gnomAD v4 |
17 | g.42536423T>A | CA399595434 | NAGLU | c.151T>A (p.Ser51Thr)
| |
17 | g.42536423T>C | CA290771280 | NAGLU | c.151T>C (p.Ser51Pro)
| dbSNP gnomAD v4 |
17 | g.42536423T>G | CA399595436 | NAGLU | c.151T>G (p.Ser51Ala)
| |
17 | g.42536423T= | CA2260526741 | NAGLU | c.151T= (p.Ser51=)
| |