Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.42541099C>A | CA399600199 | NAGLU | c.914C>A (p.Thr305Lys) c.360-1929C>A (n.360-1929C>A) c.9C>A c.83C>A (p.Thr28Lys) c.23-1929C>A (n.23-1929C>A) c.971C>A (p.Thr324Lys) | |
17 | g.42541099C>G | CA399600200 | NAGLU | c.914C>G (p.Thr305Arg) c.360-1929C>G (n.360-1929C>G) c.9C>G c.83C>G (p.Thr28Arg) c.23-1929C>G (n.23-1929C>G) c.971C>G (p.Thr324Arg) | |
17 | g.42541099C>T | CA399600201 | NAGLU | c.914C>T (p.Thr305Ile) c.360-1929C>T (n.360-1929C>T) c.9C>T c.83C>T (p.Thr28Ile) c.23-1929C>T (n.23-1929C>T) c.971C>T (p.Thr324Ile) | |
17 | g.42541100A= | CA2260529156 | NAGLU | c.915A= (p.Thr305=) c.360-1928A= (n.360-1928A=) c.10A= c.84A= (p.Thr28=) c.23-1928A= (n.23-1928A=) c.972A= (p.Thr324=) | |
17 | g.42541100A>C | CA500216666 | NAGLU | c.915A>C (p.Thr305=) c.360-1928A>C (n.360-1928A>C) c.10A>C c.84A>C (p.Thr28=) c.23-1928A>C (n.23-1928A>C) c.972A>C (p.Thr324=) | |
17 | g.42541100A>G | CA500216667 | NAGLU | c.915A>G (p.Thr305=) c.360-1928A>G (n.360-1928A>G) c.10A>G c.84A>G (p.Thr28=) c.23-1928A>G (n.23-1928A>G) c.972A>G (p.Thr324=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42541100A>T | CA500216668 | NAGLU | c.915A>T (p.Thr305=) c.360-1928A>T (n.360-1928A>T) c.10A>T c.84A>T (p.Thr28=) c.23-1928A>T (n.23-1928A>T) c.972A>T (p.Thr324=) | |
17 | g.42541101G>A | CA399600202 | NAGLU | c.916G>A (p.Asp306Asn) c.360-1927G>A (n.360-1927G>A) c.11G>A c.85G>A (p.Asp29Asn) c.23-1927G>A (n.23-1927G>A) c.973G>A (p.Asp325Asn) | |
17 | g.42541101G>C | CA399600204 | NAGLU | c.916G>C (p.Asp306His) c.360-1927G>C (n.360-1927G>C) c.11G>C c.85G>C (p.Asp29His) c.23-1927G>C (n.23-1927G>C) c.973G>C (p.Asp325His) | |
17 | g.42541101G>T | CA399600203 | NAGLU | c.916G>T (p.Asp306Tyr) c.360-1927G>T (n.360-1927G>T) c.11G>T c.85G>T (p.Asp29Tyr) c.23-1927G>T (n.23-1927G>T) c.973G>T (p.Asp325Tyr) | |
17 | g.42541102A= | CA2260529157 | NAGLU | c.917A= (p.Asp306=) c.360-1926A= (n.360-1926A=) c.12A= c.86A= (p.Asp29=) c.23-1926A= (n.23-1926A=) c.974A= (p.Asp325=) | |
17 | g.42541102A>C | CA399600205 | NAGLU | c.917A>C (p.Asp306Ala) c.360-1926A>C (n.360-1926A>C) c.12A>C c.86A>C (p.Asp29Ala) c.23-1926A>C (n.23-1926A>C) c.974A>C (p.Asp325Ala) | |
17 | g.42541102A>G | CA8576900 | NAGLU | c.917A>G (p.Asp306Gly) c.360-1926A>G (n.360-1926A>G) c.12A>G c.86A>G (p.Asp29Gly) c.23-1926A>G (n.23-1926A>G) c.974A>G (p.Asp325Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42541102A>T | CA399600206 | NAGLU | c.917A>T (p.Asp306Val) c.360-1926A>T (n.360-1926A>T) c.12A>T c.86A>T (p.Asp29Val) c.23-1926A>T (n.23-1926A>T) c.974A>T (p.Asp325Val) | |
17 | g.42541103C>A | CA399600207 | NAGLU | c.918C>A (p.Asp306Glu) c.360-1925C>A (n.360-1925C>A) c.13C>A c.87C>A (p.Asp29Glu) c.23-1925C>A (n.23-1925C>A) c.975C>A (p.Asp325Glu) | |
17 | g.42541103C>G | CA399600208 | NAGLU | c.918C>G (p.Asp306Glu) c.360-1925C>G (n.360-1925C>G) c.13C>G c.87C>G (p.Asp29Glu) c.23-1925C>G (n.23-1925C>G) c.975C>G (p.Asp325Glu) | |
17 | g.42541103C>T | CA500216669 | NAGLU | c.918C>T (p.Asp306=) c.360-1925C>T (n.360-1925C>T) c.13C>T c.87C>T (p.Asp29=) c.23-1925C>T (n.23-1925C>T) c.975C>T (p.Asp325=) | |
17 | g.42541104C>A | CA399600209 | NAGLU | c.919C>A (p.His307Asn) c.360-1924C>A (n.360-1924C>A) c.14C>A c.88C>A (p.His30Asn) c.23-1924C>A (n.23-1924C>A) c.976C>A (p.His326Asn) | |
17 | g.42541104C>G | CA399600210 | NAGLU | c.919C>G (p.His307Asp) c.360-1924C>G (n.360-1924C>G) c.14C>G c.88C>G (p.His30Asp) c.23-1924C>G (n.23-1924C>G) c.976C>G (p.His326Asp) | |
17 | g.42541104C>T | CA399600211 | NAGLU | c.919C>T (p.His307Tyr) c.360-1924C>T (n.360-1924C>T) c.14C>T c.88C>T (p.His30Tyr) c.23-1924C>T (n.23-1924C>T) c.976C>T (p.His326Tyr) | |
17 | g.42541106_42541107dup | CA2637970045 | NAGLU | c.921_922dup (p.Ile308ThrfsTer?) c.360-1922_360-1921dup (n.360-1922_360-1921dup) c.16_17dup c.90_91dup (p.Ile31ThrfsTer?) c.23-1922_23-1921dup (n.23-1922_23-1921dup) c.978_979dup (p.Ile327ThrfsTer?) | gnomAD v4 |
17 | g.42541105A>C | CA399600212 | NAGLU | c.920A>C (p.His307Pro) c.360-1923A>C (n.360-1923A>C) c.15A>C c.89A>C (p.His30Pro) c.23-1923A>C (n.23-1923A>C) c.977A>C (p.His326Pro) | |
17 | g.42541105A>G | CA399600213 | NAGLU | c.920A>G (p.His307Arg) c.360-1923A>G (n.360-1923A>G) c.15A>G c.89A>G (p.His30Arg) c.23-1923A>G (n.23-1923A>G) c.977A>G (p.His326Arg) | |
17 | g.42541105A>T | CA399600214 | NAGLU | c.920A>T (p.His307Leu) c.360-1923A>T (n.360-1923A>T) c.15A>T c.89A>T (p.His30Leu) c.23-1923A>T (n.23-1923A>T) c.977A>T (p.His326Leu) | |
17 | g.42541106C>A | CA399600216 | NAGLU | c.921C>A (p.His307Gln) c.360-1922C>A (n.360-1922C>A) c.16C>A c.90C>A (p.His30Gln) c.23-1922C>A (n.23-1922C>A) c.978C>A (p.His326Gln) | |
17 | g.42541106C>G | CA399600215 | NAGLU | c.921C>G (p.His307Gln) c.360-1922C>G (n.360-1922C>G) c.16C>G c.90C>G (p.His30Gln) c.23-1922C>G (n.23-1922C>G) c.978C>G (p.His326Gln) | |
17 | g.42541106C>T | CA500216670 | NAGLU | c.921C>T (p.His307=) c.360-1922C>T (n.360-1922C>T) c.16C>T c.90C>T (p.His30=) c.23-1922C>T (n.23-1922C>T) c.978C>T (p.His326=) | |
17 | g.42541107A= | CA2260529158 | NAGLU | c.922A= (p.Ile308=) c.360-1921A= (n.360-1921A=) c.17A= c.91A= (p.Ile31=) c.23-1921A= (n.23-1921A=) c.979A= (p.Ile327=) | |
17 | g.42541107A>C | CA399600217 | NAGLU | c.922A>C (p.Ile308Leu) c.360-1921A>C (n.360-1921A>C) c.17A>C c.91A>C (p.Ile31Leu) c.23-1921A>C (n.23-1921A>C) c.979A>C (p.Ile327Leu) | |
17 | g.42541107A>G | CA399600218 | NAGLU | c.922A>G (p.Ile308Val) c.360-1921A>G (n.360-1921A>G) c.17A>G c.91A>G (p.Ile31Val) c.23-1921A>G (n.23-1921A>G) c.979A>G (p.Ile327Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42541107A>T | CA399600219 | NAGLU | c.922A>T (p.Ile308Phe) c.360-1921A>T (n.360-1921A>T) c.17A>T c.91A>T (p.Ile31Phe) c.23-1921A>T (n.23-1921A>T) c.979A>T (p.Ile327Phe) | |
17 | g.42541108T>A | CA399600220 | NAGLU | c.923T>A (p.Ile308Asn) c.360-1920T>A (n.360-1920T>A) c.18T>A c.92T>A (p.Ile31Asn) c.23-1920T>A (n.23-1920T>A) c.980T>A (p.Ile327Asn) | |
17 | g.42541108T>C | CA8576901 | NAGLU | c.923T>C (p.Ile308Thr) c.360-1920T>C (n.360-1920T>C) c.18T>C c.92T>C (p.Ile31Thr) c.23-1920T>C (n.23-1920T>C) c.980T>C (p.Ile327Thr) | dbSNP ExAC gnomAD v2 |
17 | g.42541108T>G | CA399600221 | NAGLU | c.923T>G (p.Ile308Ser) c.360-1920T>G (n.360-1920T>G) c.18T>G c.92T>G (p.Ile31Ser) c.23-1920T>G (n.23-1920T>G) c.980T>G (p.Ile327Ser) | |
17 | g.42541108T= | CA2260529159 | NAGLU | c.923T= (p.Ile308=) c.360-1920T= (n.360-1920T=) c.18T= c.92T= (p.Ile31=) c.23-1920T= (n.23-1920T=) c.980T= (p.Ile327=) | |
17 | g.42541109C>A | CA500216671 | NAGLU | c.924C>A (p.Ile308=) c.360-1919C>A (n.360-1919C>A) c.19C>A c.93C>A (p.Ile31=) c.23-1919C>A (n.23-1919C>A) c.981C>A (p.Ile327=) | COSMIC |
17 | g.42541109C>G | CA399600222 | NAGLU | c.924C>G (p.Ile308Met) c.360-1919C>G (n.360-1919C>G) c.19C>G c.93C>G (p.Ile31Met) c.23-1919C>G (n.23-1919C>G) c.981C>G (p.Ile327Met) | |
17 | g.42541109C>T | CA500216672 | NAGLU | c.924C>T (p.Ile308=) c.360-1919C>T (n.360-1919C>T) c.19C>T c.93C>T (p.Ile31=) c.23-1919C>T (n.23-1919C>T) c.981C>T (p.Ile327=) | gnomAD v4 |
17 | g.42541110T>A | CA399600225 | NAGLU | c.925T>A (p.Tyr309Asn) c.360-1918T>A (n.360-1918T>A) c.20T>A c.94T>A (p.Tyr32Asn) c.23-1918T>A (n.23-1918T>A) c.982T>A (p.Tyr328Asn) | |
17 | g.42541110T>C | CA399600223 | NAGLU | c.925T>C (p.Tyr309His) c.360-1918T>C (n.360-1918T>C) c.20T>C c.94T>C (p.Tyr32His) c.23-1918T>C (n.23-1918T>C) c.982T>C (p.Tyr328His) | ClinVar dbSNP |
17 | g.42541110T>G | CA399600224 | NAGLU | c.925T>G (p.Tyr309Asp) c.360-1918T>G (n.360-1918T>G) c.20T>G c.94T>G (p.Tyr32Asp) c.23-1918T>G (n.23-1918T>G) c.982T>G (p.Tyr328Asp) | |
17 | g.42541111A= | CA2260529160 | NAGLU | c.926A= (p.Tyr309=) c.360-1917A= (n.360-1917A=) c.21A= c.95A= (p.Tyr32=) c.23-1917A= (n.23-1917A=) c.983A= (p.Tyr328=) | |
17 | g.42541111A>C | CA399600226 | NAGLU | c.926A>C (p.Tyr309Ser) c.360-1917A>C (n.360-1917A>C) c.21A>C c.95A>C (p.Tyr32Ser) c.23-1917A>C (n.23-1917A>C) c.983A>C (p.Tyr328Ser) | |
17 | g.42541111A>G | CA399600227 | NAGLU | c.926A>G (p.Tyr309Cys) c.360-1917A>G (n.360-1917A>G) c.21A>G c.95A>G (p.Tyr32Cys) c.23-1917A>G (n.23-1917A>G) c.983A>G (p.Tyr328Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42541111A>T | CA399600228 | NAGLU | c.926A>T (p.Tyr309Phe) c.360-1917A>T (n.360-1917A>T) c.21A>T c.95A>T (p.Tyr32Phe) c.23-1917A>T (n.23-1917A>T) c.983A>T (p.Tyr328Phe) | ClinVar dbSNP gnomAD v4 |
17 | g.42541112T>A | CA399600229 | NAGLU | c.927T>A (p.Tyr309Ter) c.360-1916T>A (n.360-1916T>A) c.22T>A c.96T>A (p.Tyr32Ter) c.23-1916T>A (n.23-1916T>A) c.984T>A (p.Tyr328Ter) | |
17 | g.42541112T>C | CA500216674 | NAGLU | c.927T>C (p.Tyr309=) c.360-1916T>C (n.360-1916T>C) c.22T>C c.96T>C (p.Tyr32=) c.23-1916T>C (n.23-1916T>C) c.984T>C (p.Tyr328=) | ClinVar dbSNP gnomAD v4 |
17 | g.42541112T>G | CA399600230 | NAGLU | c.927T>G (p.Tyr309Ter) c.360-1916T>G (n.360-1916T>G) c.22T>G c.96T>G (p.Tyr32Ter) c.23-1916T>G (n.23-1916T>G) c.984T>G (p.Tyr328Ter) | |
17 | g.42541112T= | CA2260529161 | NAGLU | c.927T= (p.Tyr309=) c.360-1916T= (n.360-1916T=) c.22T= c.96T= (p.Tyr32=) c.23-1916T= (n.23-1916T=) c.984T= (p.Tyr328=) | |
17 | g.42541113G>A | CA399600231 | NAGLU | c.928G>A (p.Gly310Arg) c.360-1915G>A (n.360-1915G>A) c.23G>A c.97G>A (p.Gly33Arg) c.23-1915G>A (n.23-1915G>A) c.985G>A (p.Gly329Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42541113G>C | CA399600233 | NAGLU | c.928G>C (p.Gly310Arg) c.360-1915G>C (n.360-1915G>C) c.23G>C c.97G>C (p.Gly33Arg) c.23-1915G>C (n.23-1915G>C) c.985G>C (p.Gly329Arg) | |
17 | g.42541113G= | CA2260529162 | NAGLU | c.928G= (p.Gly310=) c.360-1915G= (n.360-1915G=) c.23G= c.97G= (p.Gly33=) c.23-1915G= (n.23-1915G=) c.985G= (p.Gly329=) | |
17 | g.42541113G>T | CA399600232 | NAGLU | c.928G>T (p.Gly310Trp) c.360-1915G>T (n.360-1915G>T) c.23G>T c.97G>T (p.Gly33Trp) c.23-1915G>T (n.23-1915G>T) c.985G>T (p.Gly329Trp) | |
17 | g.42541114G>A | CA399600234 | NAGLU | c.929G>A (p.Gly310Glu) c.360-1914G>A (n.360-1914G>A) c.24G>A c.98G>A (p.Gly33Glu) c.23-1914G>A (n.23-1914G>A) c.986G>A (p.Gly329Glu) | dbSNP |
17 | g.42541114G>C | CA8576903 | NAGLU | c.929G>C (p.Gly310Ala) c.360-1914G>C (n.360-1914G>C) c.24G>C c.98G>C (p.Gly33Ala) c.23-1914G>C (n.23-1914G>C) c.986G>C (p.Gly329Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42541114G= | CA2260529163 | NAGLU | c.929G= (p.Gly310=) c.360-1914G= (n.360-1914G=) c.24G= c.98G= (p.Gly33=) c.23-1914G= (n.23-1914G=) c.986G= (p.Gly329=) | |
17 | g.42541114G>T | CA8576902 | NAGLU | c.929G>T (p.Gly310Val) c.360-1914G>T (n.360-1914G>T) c.24G>T c.98G>T (p.Gly33Val) c.23-1914G>T (n.23-1914G>T) c.986G>T (p.Gly329Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42541115G>A | CA500216678 | NAGLU | c.930G>A (p.Gly310=) c.360-1913G>A (n.360-1913G>A) c.25G>A c.99G>A (p.Gly33=) c.23-1913G>A (n.23-1913G>A) c.987G>A (p.Gly329=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42541115G>C | CA500216680 | NAGLU | c.930G>C (p.Gly310=) c.360-1913G>C (n.360-1913G>C) c.25G>C c.99G>C (p.Gly33=) c.23-1913G>C (n.23-1913G>C) c.987G>C (p.Gly329=) | |
17 | g.42541115G= | CA2260529164 | NAGLU | c.930G= (p.Gly310=) c.360-1913G= (n.360-1913G=) c.25G= c.99G= (p.Gly33=) c.23-1913G= (n.23-1913G=) c.987G= (p.Gly329=) | |
17 | g.42541115G>T | CA500216677 | NAGLU | c.930G>T (p.Gly310=) c.360-1913G>T (n.360-1913G>T) c.25G>T c.99G>T (p.Gly33=) c.23-1913G>T (n.23-1913G>T) c.987G>T (p.Gly329=) | |
17 | g.42541116G>A | CA399600235 | NAGLU | c.931G>A (p.Ala311Thr) c.360-1912G>A (n.360-1912G>A) c.26G>A c.100G>A (p.Ala34Thr) c.23-1912G>A (n.23-1912G>A) c.988G>A (p.Ala330Thr) | |
17 | g.42541116G>C | CA399600236 | NAGLU | c.931G>C (p.Ala311Pro) c.360-1912G>C (n.360-1912G>C) c.26G>C c.100G>C (p.Ala34Pro) c.23-1912G>C (n.23-1912G>C) c.988G>C (p.Ala330Pro) | |
17 | g.42541116G>T | CA399600237 | NAGLU | c.931G>T (p.Ala311Ser) c.360-1912G>T (n.360-1912G>T) c.26G>T c.100G>T (p.Ala34Ser) c.23-1912G>T (n.23-1912G>T) c.988G>T (p.Ala330Ser) | |
17 | g.42541117C>A | CA399600238 | NAGLU | c.932C>A (p.Ala311Asp) c.360-1911C>A (n.360-1911C>A) c.27C>A c.101C>A (p.Ala34Asp) c.23-1911C>A (n.23-1911C>A) c.989C>A (p.Ala330Asp) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42541117C= | CA2260529165 | NAGLU | c.932C= (p.Ala311=) c.360-1911C= (n.360-1911C=) c.27C= c.101C= (p.Ala34=) c.23-1911C= (n.23-1911C=) c.989C= (p.Ala330=) | |
17 | g.42541117C>G | CA399600239 | NAGLU | c.932C>G (p.Ala311Gly) c.360-1911C>G (n.360-1911C>G) c.27C>G c.101C>G (p.Ala34Gly) c.23-1911C>G (n.23-1911C>G) c.989C>G (p.Ala330Gly) | |
17 | g.42541117C>T | CA399600240 | NAGLU | c.932C>T (p.Ala311Val) c.360-1911C>T (n.360-1911C>T) c.27C>T c.101C>T (p.Ala34Val) c.23-1911C>T (n.23-1911C>T) c.989C>T (p.Ala330Val) | COSMIC |
17 | g.42541118C>A | CA500216683 | NAGLU | c.933C>A (p.Ala311=) c.360-1910C>A (n.360-1910C>A) c.28C>A c.102C>A (p.Ala34=) c.23-1910C>A (n.23-1910C>A) c.990C>A (p.Ala330=) | |
17 | g.42541118C= | CA2260529166 | NAGLU | c.933C= (p.Ala311=) c.360-1910C= (n.360-1910C=) c.28C= c.102C= (p.Ala34=) c.23-1910C= (n.23-1910C=) c.990C= (p.Ala330=) | |
17 | g.42541118C>G | CA145933 | NAGLU | c.933C>G (p.Ala311=) c.360-1910C>G (n.360-1910C>G) c.28C>G c.102C>G (p.Ala34=) c.23-1910C>G (n.23-1910C>G) c.990C>G (p.Ala330=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42541118C>T | CA8576904 | NAGLU | c.933C>T (p.Ala311=) c.360-1910C>T (n.360-1910C>T) c.28C>T c.102C>T (p.Ala34=) c.23-1910C>T (n.23-1910C>T) c.990C>T (p.Ala330=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42541119G>A | CA290778699 | NAGLU | c.934G>A (p.Asp312Asn) c.360-1909G>A (n.360-1909G>A) c.29G>A c.103G>A (p.Asp35Asn) c.23-1909G>A (n.23-1909G>A) c.991G>A (p.Asp331Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42541119G>C | CA399600242 | NAGLU | c.934G>C (p.Asp312His) c.360-1909G>C (n.360-1909G>C) c.29G>C c.103G>C (p.Asp35His) c.23-1909G>C (n.23-1909G>C) c.991G>C (p.Asp331His) | ClinVar |
17 | g.42541119G= | CA2260529167 | NAGLU | c.934G= (p.Asp312=) c.360-1909G= (n.360-1909G=) c.29G= c.103G= (p.Asp35=) c.23-1909G= (n.23-1909G=) c.991G= (p.Asp331=) | |
17 | g.42541119G>T | CA399600241 | NAGLU | c.934G>T (p.Asp312Tyr) c.360-1909G>T (n.360-1909G>T) c.29G>T c.103G>T (p.Asp35Tyr) c.23-1909G>T (n.23-1909G>T) c.991G>T (p.Asp331Tyr) | gnomAD v4 |
17 | g.42541120A>C | CA399600243 | NAGLU | c.935A>C (p.Asp312Ala) c.360-1908A>C (n.360-1908A>C) c.30A>C c.104A>C (p.Asp35Ala) c.23-1908A>C (n.23-1908A>C) c.992A>C (p.Asp331Ala) | ClinVar |
17 | g.42541120A>G | CA399600245 | NAGLU | c.935A>G (p.Asp312Gly) c.360-1908A>G (n.360-1908A>G) c.30A>G c.104A>G (p.Asp35Gly) c.23-1908A>G (n.23-1908A>G) c.992A>G (p.Asp331Gly) | gnomAD v4 |
17 | g.42541120A>T | CA399600244 | NAGLU | c.935A>T (p.Asp312Val) c.360-1908A>T (n.360-1908A>T) c.30A>T c.104A>T (p.Asp35Val) c.23-1908A>T (n.23-1908A>T) c.992A>T (p.Asp331Val) | |
17 | g.42541121C>A | CA399600246 | NAGLU | c.936C>A (p.Asp312Glu) c.360-1907C>A (n.360-1907C>A) c.31C>A c.105C>A (p.Asp35Glu) c.23-1907C>A (n.23-1907C>A) c.993C>A (p.Asp331Glu) | |
17 | g.42541121C= | CA2260529168 | NAGLU | c.936C= (p.Asp312=) c.360-1907C= (n.360-1907C=) c.31C= c.105C= (p.Asp35=) c.23-1907C= (n.23-1907C=) c.993C= (p.Asp331=) | |
17 | g.42541121C>G | CA399600247 | NAGLU | c.936C>G (p.Asp312Glu) c.360-1907C>G (n.360-1907C>G) c.31C>G c.105C>G (p.Asp35Glu) c.23-1907C>G (n.23-1907C>G) c.993C>G (p.Asp331Glu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42541121C>T | CA500216687 | NAGLU | c.936C>T (p.Asp312=) c.360-1907C>T (n.360-1907C>T) c.31C>T c.105C>T (p.Asp35=) c.23-1907C>T (n.23-1907C>T) c.993C>T (p.Asp331=) | |
17 | g.42541122A= | CA2260529169 | NAGLU | c.937A= (p.Thr313=) c.360-1906A= (n.360-1906A=) c.32A= c.106A= (p.Thr36=) c.23-1906A= (n.23-1906A=) c.994A= (p.Thr332=) | |
17 | g.42541122A>C | CA399600248 | NAGLU | c.937A>C (p.Thr313Pro) c.360-1906A>C (n.360-1906A>C) c.32A>C c.106A>C (p.Thr36Pro) c.23-1906A>C (n.23-1906A>C) c.994A>C (p.Thr332Pro) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42541122A>G | CA399600249 | NAGLU | c.937A>G (p.Thr313Ala) c.360-1906A>G (n.360-1906A>G) c.32A>G c.106A>G (p.Thr36Ala) c.23-1906A>G (n.23-1906A>G) c.994A>G (p.Thr332Ala) | |
17 | g.42541122A>T | CA399600250 | NAGLU | c.937A>T (p.Thr313Ser) c.360-1906A>T (n.360-1906A>T) c.32A>T c.106A>T (p.Thr36Ser) c.23-1906A>T (n.23-1906A>T) c.994A>T (p.Thr332Ser) | |
17 | g.42541123C>A | CA399600251 | NAGLU | c.938C>A (p.Thr313Asn) c.360-1905C>A (n.360-1905C>A) c.33C>A c.107C>A (p.Thr36Asn) c.23-1905C>A (n.23-1905C>A) c.995C>A (p.Thr332Asn) | |
17 | g.42541123C>G | CA399600252 | NAGLU | c.938C>G (p.Thr313Ser) c.360-1905C>G (n.360-1905C>G) c.33C>G c.107C>G (p.Thr36Ser) c.23-1905C>G (n.23-1905C>G) c.995C>G (p.Thr332Ser) | |
17 | g.42541123C>T | CA399600253 | NAGLU | c.938C>T (p.Thr313Ile) c.360-1905C>T (n.360-1905C>T) c.33C>T c.107C>T (p.Thr36Ile) c.23-1905C>T (n.23-1905C>T) c.995C>T (p.Thr332Ile) | |
17 | g.42541124T>A | CA500216691 | NAGLU | c.939T>A (p.Thr313=) c.360-1904T>A (n.360-1904T>A) c.34T>A c.108T>A (p.Thr36=) c.23-1904T>A (n.23-1904T>A) c.996T>A (p.Thr332=) | ClinVar |
17 | g.42541124T>C | CA500216693 | NAGLU | c.939T>C (p.Thr313=) c.360-1904T>C (n.360-1904T>C) c.34T>C c.108T>C (p.Thr36=) c.23-1904T>C (n.23-1904T>C) c.996T>C (p.Thr332=) | dbSNP gnomAD v4 |
17 | g.42541124T>G | CA500216692 | NAGLU | c.939T>G (p.Thr313=) c.360-1904T>G (n.360-1904T>G) c.34T>G c.108T>G (p.Thr36=) c.23-1904T>G (n.23-1904T>G) c.996T>G (p.Thr332=) | |
17 | g.42541124T= | CA2260529170 | NAGLU | c.939T= (p.Thr313=) c.360-1904T= (n.360-1904T=) c.34T= c.108T= (p.Thr36=) c.23-1904T= (n.23-1904T=) c.996T= (p.Thr332=) | |
17 | g.42541126del | CA2637970046 | NAGLU | c.941del (p.Phe314SerfsTer25) c.360-1902del (n.360-1902del) c.36del c.110del (p.Phe37SerfsTer25) c.23-1902del (n.23-1902del) c.998del (p.Phe333SerfsTer25) | gnomAD v4 |
17 | g.42541125T>A | CA399600254 | NAGLU | c.940T>A (p.Phe314Ile) c.360-1903T>A (n.360-1903T>A) c.35T>A c.109T>A (p.Phe37Ile) c.23-1903T>A (n.23-1903T>A) c.997T>A (p.Phe333Ile) | |
17 | g.42541125T>C | CA290778701 | NAGLU | c.940T>C (p.Phe314Leu) c.360-1903T>C (n.360-1903T>C) c.35T>C c.109T>C (p.Phe37Leu) c.23-1903T>C (n.23-1903T>C) c.997T>C (p.Phe333Leu) | dbSNP |
17 | g.42541125T>G | CA399600255 | NAGLU | c.940T>G (p.Phe314Val) c.360-1903T>G (n.360-1903T>G) c.35T>G c.109T>G (p.Phe37Val) c.23-1903T>G (n.23-1903T>G) c.997T>G (p.Phe333Val) | ClinVar dbSNP |
17 | g.42541125T= | CA2260529171 | NAGLU | c.940T= (p.Phe314=) c.360-1903T= (n.360-1903T=) c.35T= c.109T= (p.Phe37=) c.23-1903T= (n.23-1903T=) c.997T= (p.Phe333=) | |
17 | g.42541126T>A | CA399600256 | NAGLU | c.941T>A (p.Phe314Tyr) c.360-1902T>A (n.360-1902T>A) c.36T>A c.110T>A (p.Phe37Tyr) c.23-1902T>A (n.23-1902T>A) c.998T>A (p.Phe333Tyr) | |
17 | g.42541126T>C | CA399600257 | NAGLU | c.941T>C (p.Phe314Ser) c.360-1902T>C (n.360-1902T>C) c.36T>C c.110T>C (p.Phe37Ser) c.23-1902T>C (n.23-1902T>C) c.998T>C (p.Phe333Ser) | ClinVar dbSNP |
17 | g.42541126T>G | CA399600258 | NAGLU | c.941T>G (p.Phe314Cys) c.360-1902T>G (n.360-1902T>G) c.36T>G c.110T>G (p.Phe37Cys) c.23-1902T>G (n.23-1902T>G) c.998T>G (p.Phe333Cys) | dbSNP |
17 | g.42541126T= | CA2260529172 | NAGLU | c.941T= (p.Phe314=) c.360-1902T= (n.360-1902T=) c.36T= c.110T= (p.Phe37=) c.23-1902T= (n.23-1902T=) c.998T= (p.Phe333=) | |
17 | g.42541127del | CA2499224330 | NAGLU | c.942del (p.Phe314LeufsTer25) c.360-1901del (n.360-1901del) c.37del c.111del (p.Phe37LeufsTer25) c.23-1901del (n.23-1901del) c.999del (p.Phe333LeufsTer25) | ClinVar dbSNP |
17 | g.42541127C>A | CA399600259 | NAGLU | c.942C>A (p.Phe314Leu) c.360-1901C>A (n.360-1901C>A) c.37C>A c.111C>A (p.Phe37Leu) c.23-1901C>A (n.23-1901C>A) c.999C>A (p.Phe333Leu) | gnomAD v4 |
17 | g.42541127C= | CA2260529173 | NAGLU | c.942C= (p.Phe314=) c.360-1901C= (n.360-1901C=) c.37C= c.111C= (p.Phe37=) c.23-1901C= (n.23-1901C=) c.999C= (p.Phe333=) | |
17 | g.42541127C>G | CA115053 | NAGLU | c.942C>G (p.Phe314Leu) c.360-1901C>G (n.360-1901C>G) c.37C>G c.111C>G (p.Phe37Leu) c.23-1901C>G (n.23-1901C>G) c.999C>G (p.Phe333Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42541127C>T | CA500216694 | NAGLU | c.942C>T (p.Phe314=) c.360-1901C>T (n.360-1901C>T) c.37C>T c.111C>T (p.Phe37=) c.23-1901C>T (n.23-1901C>T) c.999C>T (p.Phe333=) | |
17 | g.42541128A>C | CA399600260 | NAGLU | c.943A>C (p.Asn315His) c.360-1900A>C (n.360-1900A>C) c.38A>C c.112A>C (p.Asn38His) c.23-1900A>C (n.23-1900A>C) c.1000A>C (p.Asn334His) | |
17 | g.42541128A>G | CA399600261 | NAGLU | c.943A>G (p.Asn315Asp) c.360-1900A>G (n.360-1900A>G) c.38A>G c.112A>G (p.Asn38Asp) c.23-1900A>G (n.23-1900A>G) c.1000A>G (p.Asn334Asp) | |
17 | g.42541128A>T | CA399600262 | NAGLU | c.943A>T (p.Asn315Tyr) c.360-1900A>T (n.360-1900A>T) c.38A>T c.112A>T (p.Asn38Tyr) c.23-1900A>T (n.23-1900A>T) c.1000A>T (p.Asn334Tyr) | |
17 | g.42541129dup | CA202998 | NAGLU | c.944dup (p.Asn315LysfsTer2) c.360-1899dup (n.360-1899dup) c.39dup c.113dup (p.Asn38LysfsTer2) c.23-1899dup (n.23-1899dup) c.1001dup (p.Asn334LysfsTer2) | ClinVar dbSNP |
17 | g.42541129A= | CA2260529174 | NAGLU | c.944A= (p.Asn315=) c.360-1899A= (n.360-1899A=) c.39A= c.113A= (p.Asn38=) c.23-1899A= (n.23-1899A=) c.1001A= (p.Asn334=) | |
17 | g.42541129A>C | CA399600263 | NAGLU | c.944A>C (p.Asn315Thr) c.360-1899A>C (n.360-1899A>C) c.39A>C c.113A>C (p.Asn38Thr) c.23-1899A>C (n.23-1899A>C) c.1001A>C (p.Asn334Thr) | |
17 | g.42541129A>G | CA399600264 | NAGLU | c.944A>G (p.Asn315Ser) c.360-1899A>G (n.360-1899A>G) c.39A>G c.113A>G (p.Asn38Ser) c.23-1899A>G (n.23-1899A>G) c.1001A>G (p.Asn334Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42541129A>T | CA399600265 | NAGLU | c.944A>T (p.Asn315Ile) c.360-1899A>T (n.360-1899A>T) c.39A>T c.113A>T (p.Asn38Ile) c.23-1899A>T (n.23-1899A>T) c.1001A>T (p.Asn334Ile) | |
17 | g.42541130T>A | CA399600266 | NAGLU | c.945T>A (p.Asn315Lys) c.360-1898T>A (n.360-1898T>A) c.40T>A c.114T>A (p.Asn38Lys) c.23-1898T>A (n.23-1898T>A) c.1002T>A (p.Asn334Lys) | |
17 | g.42541130T>C | CA500216698 | NAGLU | c.945T>C (p.Asn315=) c.360-1898T>C (n.360-1898T>C) c.40T>C c.114T>C (p.Asn38=) c.23-1898T>C (n.23-1898T>C) c.1002T>C (p.Asn334=) | |
17 | g.42541130T>G | CA399600267 | NAGLU | c.945T>G (p.Asn315Lys) c.360-1898T>G (n.360-1898T>G) c.40T>G c.114T>G (p.Asn38Lys) c.23-1898T>G (n.23-1898T>G) c.1002T>G (p.Asn334Lys) | gnomAD v4 |
17 | g.42541131G>A | CA399600268 | NAGLU | c.946G>A (p.Glu316Lys) c.360-1897G>A (n.360-1897G>A) c.41G>A c.115G>A (p.Glu39Lys) c.23-1897G>A (n.23-1897G>A) c.1003G>A (p.Glu335Lys) | ClinVar dbSNP |
17 | g.42541131G>C | CA399600269 | NAGLU | c.946G>C (p.Glu316Gln) c.360-1897G>C (n.360-1897G>C) c.41G>C c.115G>C (p.Glu39Gln) c.23-1897G>C (n.23-1897G>C) c.1003G>C (p.Glu335Gln) | |
17 | g.42541131G>T | CA399600270 | NAGLU | c.946G>T (p.Glu316Ter) c.360-1897G>T (n.360-1897G>T) c.41G>T c.115G>T (p.Glu39Ter) c.23-1897G>T (n.23-1897G>T) c.1003G>T (p.Glu335Ter) | |
17 | g.42541132A>C | CA399600272 | NAGLU | c.947A>C (p.Glu316Ala) c.360-1896A>C (n.360-1896A>C) c.42A>C c.116A>C (p.Glu39Ala) c.23-1896A>C (n.23-1896A>C) c.1004A>C (p.Glu335Ala) | |
17 | g.42541132A>G | CA399600273 | NAGLU | c.947A>G (p.Glu316Gly) c.360-1896A>G (n.360-1896A>G) c.42A>G c.116A>G (p.Glu39Gly) c.23-1896A>G (n.23-1896A>G) c.1004A>G (p.Glu335Gly) | |
17 | g.42541132A>T | CA399600271 | NAGLU | c.947A>T (p.Glu316Val) c.360-1896A>T (n.360-1896A>T) c.42A>T c.116A>T (p.Glu39Val) c.23-1896A>T (n.23-1896A>T) c.1004A>T (p.Glu335Val) | |
17 | g.42541133G>A | CA500216699 | NAGLU | c.948G>A (p.Glu316=) c.360-1895G>A (n.360-1895G>A) c.43G>A c.117G>A (p.Glu39=) c.23-1895G>A (n.23-1895G>A) c.1005G>A (p.Glu335=) | |
17 | g.42541133G>C | CA399600274 | NAGLU | c.948G>C (p.Glu316Asp) c.360-1895G>C (n.360-1895G>C) c.43G>C c.117G>C (p.Glu39Asp) c.23-1895G>C (n.23-1895G>C) c.1005G>C (p.Glu335Asp) | |
17 | g.42541133G>T | CA399600275 | NAGLU | c.948G>T (p.Glu316Asp) c.360-1895G>T (n.360-1895G>T) c.43G>T c.117G>T (p.Glu39Asp) c.23-1895G>T (n.23-1895G>T) c.1005G>T (p.Glu335Asp) | |
17 | g.42541134A>C | CA399600276 | NAGLU | c.949A>C (p.Met317Leu) c.360-1894A>C (n.360-1894A>C) c.44A>C c.118A>C (p.Met40Leu) c.23-1894A>C (n.23-1894A>C) c.1006A>C (p.Met336Leu) | |
17 | g.42541134A>G | CA399600277 | NAGLU | c.949A>G (p.Met317Val) c.360-1894A>G (n.360-1894A>G) c.44A>G c.118A>G (p.Met40Val) c.23-1894A>G (n.23-1894A>G) c.1006A>G (p.Met336Val) | ClinVar gnomAD v4 |
17 | g.42541134A>T | CA399600278 | NAGLU | c.949A>T (p.Met317Leu) c.360-1894A>T (n.360-1894A>T) c.44A>T c.118A>T (p.Met40Leu) c.23-1894A>T (n.23-1894A>T) c.1006A>T (p.Met336Leu) | |
17 | g.42541135T>A | CA399600281 | NAGLU | c.950T>A (p.Met317Lys) c.360-1893T>A (n.360-1893T>A) c.45T>A c.119T>A (p.Met40Lys) c.23-1893T>A (n.23-1893T>A) c.1007T>A (p.Met336Lys) | |
17 | g.42541135T>C | CA399600280 | NAGLU | c.950T>C (p.Met317Thr) c.360-1893T>C (n.360-1893T>C) c.45T>C c.119T>C (p.Met40Thr) c.23-1893T>C (n.23-1893T>C) c.1007T>C (p.Met336Thr) | |
17 | g.42541135T>G | CA399600279 | NAGLU | c.950T>G (p.Met317Arg) c.360-1893T>G (n.360-1893T>G) c.45T>G c.119T>G (p.Met40Arg) c.23-1893T>G (n.23-1893T>G) c.1007T>G (p.Met336Arg) | |
17 | g.42541135T= | CA2260529175 | NAGLU | c.950T= (p.Met317=) c.360-1893T= (n.360-1893T=) c.45T= c.119T= (p.Met40=) c.23-1893T= (n.23-1893T=) c.1007T= (p.Met336=) | |
17 | g.42541135_42541136insAA | CA626218594 | NAGLU | c.950_951insAA (p.Met317IlefsTer23) c.360-1893_360-1892insAA (n.360-1893_360-1892insAA) c.45_46insAA c.119_120insAA (p.Met40IlefsTer23) c.23-1893_23-1892insAA (n.23-1893_23-1892insAA) c.1007_1008insAA (p.Met336IlefsTer23) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42541136G>A | CA399600282 | NAGLU | c.951G>A (p.Met317Ile) c.360-1892G>A (n.360-1892G>A) c.46G>A c.120G>A (p.Met40Ile) c.23-1892G>A (n.23-1892G>A) c.1008G>A (p.Met336Ile) | ClinVar gnomAD v4 |
17 | g.42541136G>C | CA399600283 | NAGLU | c.951G>C (p.Met317Ile) c.360-1892G>C (n.360-1892G>C) c.46G>C c.120G>C (p.Met40Ile) c.23-1892G>C (n.23-1892G>C) c.1008G>C (p.Met336Ile) | ClinVar |
17 | g.42541136G>T | CA399600284 | NAGLU | c.951G>T (p.Met317Ile) c.360-1892G>T (n.360-1892G>T) c.46G>T c.120G>T (p.Met40Ile) c.23-1892G>T (n.23-1892G>T) c.1008G>T (p.Met336Ile) | gnomAD v4 |
17 | g.42541137C>A | CA399600285 | NAGLU | c.952C>A (p.Gln318Lys) c.360-1891C>A (n.360-1891C>A) c.47C>A c.121C>A (p.Gln41Lys) c.23-1891C>A (n.23-1891C>A) c.1009C>A (p.Gln337Lys) | |
17 | g.42541137C= | CA2260529176 | NAGLU | c.952C= (p.Gln318=) c.360-1891C= (n.360-1891C=) c.47C= c.121C= (p.Gln41=) c.23-1891C= (n.23-1891C=) c.1009C= (p.Gln337=) | |
17 | g.42541137C>G | CA399600286 | NAGLU | c.952C>G (p.Gln318Glu) c.360-1891C>G (n.360-1891C>G) c.47C>G c.121C>G (p.Gln41Glu) c.23-1891C>G (n.23-1891C>G) c.1009C>G (p.Gln337Glu) | |
17 | g.42541137C>T | CA399600287 | NAGLU | c.952C>T (p.Gln318Ter) c.360-1891C>T (n.360-1891C>T) c.47C>T c.121C>T (p.Gln41Ter) c.23-1891C>T (n.23-1891C>T) c.1009C>T (p.Gln337Ter) | dbSNP gnomAD v2 |
17 | g.42541138A>C | CA399600288 | NAGLU | c.953A>C (p.Gln318Pro) c.360-1890A>C (n.360-1890A>C) c.48A>C c.122A>C (p.Gln41Pro) c.23-1890A>C (n.23-1890A>C) c.1010A>C (p.Gln337Pro) | |
17 | g.42541138A>G | CA399600290 | NAGLU | c.953A>G (p.Gln318Arg) c.360-1890A>G (n.360-1890A>G) c.48A>G c.122A>G (p.Gln41Arg) c.23-1890A>G (n.23-1890A>G) c.1010A>G (p.Gln337Arg) | gnomAD v4 |
17 | g.42541138A>T | CA399600289 | NAGLU | c.953A>T (p.Gln318Leu) c.360-1890A>T (n.360-1890A>T) c.48A>T c.122A>T (p.Gln41Leu) c.23-1890A>T (n.23-1890A>T) c.1010A>T (p.Gln337Leu) | |
17 | g.42541138_42541142del | CA2573153971 | NAGLU | c.953_957del (p.Gln318ProfsTer17) c.360-1890_360-1886del (n.360-1890_360-1886del) c.48_52del c.122_126del (p.Gln41ProfsTer17) c.23-1890_23-1886del (n.23-1890_23-1886del) c.1010_1014del (p.Gln337ProfsTer17) | ClinVar dbSNP |
17 | g.42541139G>A | CA500216704 | NAGLU | c.954G>A (p.Gln318=) c.360-1889G>A (n.360-1889G>A) c.49G>A c.123G>A (p.Gln41=) c.23-1889G>A (n.23-1889G>A) c.1011G>A (p.Gln337=) | |
17 | g.42541139G>C | CA399600291 | NAGLU | c.954G>C (p.Gln318His) c.360-1889G>C (n.360-1889G>C) c.49G>C c.123G>C (p.Gln41His) c.23-1889G>C (n.23-1889G>C) c.1011G>C (p.Gln337His) | |
17 | g.42541139G>T | CA399600292 | NAGLU | c.954G>T (p.Gln318His) c.360-1889G>T (n.360-1889G>T) c.49G>T c.123G>T (p.Gln41His) c.23-1889G>T (n.23-1889G>T) c.1011G>T (p.Gln337His) | |
17 | g.42541140C>A | CA399600293 | NAGLU | c.955C>A (p.Pro319Thr) c.360-1888C>A (n.360-1888C>A) c.50C>A c.124C>A (p.Pro42Thr) c.23-1888C>A (n.23-1888C>A) c.1012C>A (p.Pro338Thr) | |
17 | g.42541140C>G | CA399600294 | NAGLU | c.955C>G (p.Pro319Ala) c.360-1888C>G (n.360-1888C>G) c.50C>G c.124C>G (p.Pro42Ala) c.23-1888C>G (n.23-1888C>G) c.1012C>G (p.Pro338Ala) | |
17 | g.42541140C>T | CA399600295 | NAGLU | c.955C>T (p.Pro319Ser) c.360-1888C>T (n.360-1888C>T) c.50C>T c.124C>T (p.Pro42Ser) c.23-1888C>T (n.23-1888C>T) c.1012C>T (p.Pro338Ser) | |
17 | g.42541141C>A | CA399600296 | NAGLU | c.956C>A (p.Pro319Gln) c.360-1887C>A (n.360-1887C>A) c.51C>A c.125C>A (p.Pro42Gln) c.23-1887C>A (n.23-1887C>A) c.1013C>A (p.Pro338Gln) | |
17 | g.42541141C>G | CA399600297 | NAGLU | c.956C>G (p.Pro319Arg) c.360-1887C>G (n.360-1887C>G) c.51C>G c.125C>G (p.Pro42Arg) c.23-1887C>G (n.23-1887C>G) c.1013C>G (p.Pro338Arg) | |
17 | g.42541141C>T | CA399600298 | NAGLU | c.956C>T (p.Pro319Leu) c.360-1887C>T (n.360-1887C>T) c.51C>T c.125C>T (p.Pro42Leu) c.23-1887C>T (n.23-1887C>T) c.1013C>T (p.Pro338Leu) | ClinVar |
17 | g.42541142A>C | CA500216708 | NAGLU | c.957A>C (p.Pro319=) c.360-1886A>C (n.360-1886A>C) c.52A>C c.126A>C (p.Pro42=) c.23-1886A>C (n.23-1886A>C) c.1014A>C (p.Pro338=) | |
17 | g.42541142A>G | CA500216706 | NAGLU | c.957A>G (p.Pro319=) c.360-1886A>G (n.360-1886A>G) c.52A>G c.126A>G (p.Pro42=) c.23-1886A>G (n.23-1886A>G) c.1014A>G (p.Pro338=) | |
17 | g.42541142A>T | CA500216707 | NAGLU | c.957A>T (p.Pro319=) c.360-1886A>T (n.360-1886A>T) c.52A>T c.126A>T (p.Pro42=) c.23-1886A>T (n.23-1886A>T) c.1014A>T (p.Pro338=) | ClinVar dbSNP gnomAD v4 |
17 | g.42541143C>A | CA399600299 | NAGLU | c.958C>A (p.Pro320Thr) c.360-1885C>A (n.360-1885C>A) c.53C>A c.127C>A (p.Pro43Thr) c.23-1885C>A (n.23-1885C>A) c.1015C>A (p.Pro339Thr) | |
17 | g.42541143C>G | CA399600300 | NAGLU | c.958C>G (p.Pro320Ala) c.360-1885C>G (n.360-1885C>G) c.53C>G c.127C>G (p.Pro43Ala) c.23-1885C>G (n.23-1885C>G) c.1015C>G (p.Pro339Ala) | |
17 | g.42541143C>T | CA399600301 | NAGLU | c.958C>T (p.Pro320Ser) c.360-1885C>T (n.360-1885C>T) c.53C>T c.127C>T (p.Pro43Ser) c.23-1885C>T (n.23-1885C>T) c.1015C>T (p.Pro339Ser) | |
17 | g.42541144C>A | CA399600304 | NAGLU | c.959C>A (p.Pro320His) c.360-1884C>A (n.360-1884C>A) c.54C>A c.128C>A (p.Pro43His) c.23-1884C>A (n.23-1884C>A) c.1016C>A (p.Pro339His) | |
17 | g.42541144C= | CA2260529177 | NAGLU | c.959C= (p.Pro320=) c.360-1884C= (n.360-1884C=) c.54C= c.128C= (p.Pro43=) c.23-1884C= (n.23-1884C=) c.1016C= (p.Pro339=) | |
17 | g.42541144C>G | CA399600303 | NAGLU | c.959C>G (p.Pro320Arg) c.360-1884C>G (n.360-1884C>G) c.54C>G c.128C>G (p.Pro43Arg) c.23-1884C>G (n.23-1884C>G) c.1016C>G (p.Pro339Arg) | |
17 | g.42541144C>T | CA399600302 | NAGLU | c.959C>T (p.Pro320Leu) c.360-1884C>T (n.360-1884C>T) c.54C>T c.128C>T (p.Pro43Leu) c.23-1884C>T (n.23-1884C>T) c.1016C>T (p.Pro339Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42541145T>A | CA500216709 | NAGLU | c.960T>A (p.Pro320=) c.360-1883T>A (n.360-1883T>A) c.55T>A c.129T>A (p.Pro43=) c.23-1883T>A (n.23-1883T>A) c.1017T>A (p.Pro339=) | |
17 | g.42541145T>C | CA500216712 | NAGLU | c.960T>C (p.Pro320=) c.360-1883T>C (n.360-1883T>C) c.55T>C c.129T>C (p.Pro43=) c.23-1883T>C (n.23-1883T>C) c.1017T>C (p.Pro339=) | |
17 | g.42541145T>G | CA500216710 | NAGLU | c.960T>G (p.Pro320=) c.360-1883T>G (n.360-1883T>G) c.55T>G c.129T>G (p.Pro43=) c.23-1883T>G (n.23-1883T>G) c.1017T>G (p.Pro339=) | |
17 | g.42541146T>A | CA399600305 | NAGLU | c.961T>A (p.Ser321Thr) c.360-1882T>A (n.360-1882T>A) c.56T>A c.130T>A (p.Ser44Thr) c.23-1882T>A (n.23-1882T>A) c.1018T>A (p.Ser340Thr) | dbSNP |
17 | g.42541146T>C | CA399600306 | NAGLU | c.961T>C (p.Ser321Pro) c.360-1882T>C (n.360-1882T>C) c.56T>C c.130T>C (p.Ser44Pro) c.23-1882T>C (n.23-1882T>C) c.1018T>C (p.Ser340Pro) | |
17 | g.42541146T>G | CA399600307 | NAGLU | c.961T>G (p.Ser321Ala) c.360-1882T>G (n.360-1882T>G) c.56T>G c.130T>G (p.Ser44Ala) c.23-1882T>G (n.23-1882T>G) c.1018T>G (p.Ser340Ala) | |
17 | g.42541146T= | CA2260529178 | NAGLU | c.961T= (p.Ser321=) c.360-1882T= (n.360-1882T=) c.56T= c.130T= (p.Ser44=) c.23-1882T= (n.23-1882T=) c.1018T= (p.Ser340=) | |
17 | g.42541147C>A | CA399600308 | NAGLU | c.962C>A (p.Ser321Tyr) c.360-1881C>A (n.360-1881C>A) c.57C>A c.131C>A (p.Ser44Tyr) c.23-1881C>A (n.23-1881C>A) c.1019C>A (p.Ser340Tyr) | |
17 | g.42541147C= | CA2260529179 | NAGLU | c.962C= (p.Ser321=) c.360-1881C= (n.360-1881C=) c.57C= c.131C= (p.Ser44=) c.23-1881C= (n.23-1881C=) c.1019C= (p.Ser340=) | |
17 | g.42541147C>G | CA399600309 | NAGLU | c.962C>G (p.Ser321Cys) c.360-1881C>G (n.360-1881C>G) c.57C>G c.131C>G (p.Ser44Cys) c.23-1881C>G (n.23-1881C>G) c.1019C>G (p.Ser340Cys) | |
17 | g.42541147C>T | CA399600310 | NAGLU | c.962C>T (p.Ser321Phe) c.360-1881C>T (n.360-1881C>T) c.57C>T c.131C>T (p.Ser44Phe) c.23-1881C>T (n.23-1881C>T) c.1019C>T (p.Ser340Phe) | ClinVar dbSNP |
17 | g.42541148C>A | CA8576905 | NAGLU | c.963C>A (p.Ser321=) c.360-1880C>A (n.360-1880C>A) c.58C>A c.132C>A (p.Ser44=) c.23-1880C>A (n.23-1880C>A) c.1020C>A (p.Ser340=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42541148C= | CA2260529180 | NAGLU | c.963C= (p.Ser321=) c.360-1880C= (n.360-1880C=) c.58C= c.132C= (p.Ser44=) c.23-1880C= (n.23-1880C=) c.1020C= (p.Ser340=) | |
17 | g.42541148C>G | CA500216589 | NAGLU | c.963C>G (p.Ser321=) c.360-1880C>G (n.360-1880C>G) c.58C>G c.132C>G (p.Ser44=) c.23-1880C>G (n.23-1880C>G) c.1020C>G (p.Ser340=) | |
17 | g.42541148C>T | CA500216590 | NAGLU | c.963C>T (p.Ser321=) c.360-1880C>T (n.360-1880C>T) c.58C>T c.132C>T (p.Ser44=) c.23-1880C>T (n.23-1880C>T) c.1020C>T (p.Ser340=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42541149T>A | CA399600311 | NAGLU | c.964T>A (p.Ser322Thr) c.360-1879T>A (n.360-1879T>A) c.59T>A c.133T>A (p.Ser45Thr) c.23-1879T>A (n.23-1879T>A) c.1021T>A (p.Ser341Thr) | |
17 | g.42541149T>C | CA399600312 | NAGLU | c.964T>C (p.Ser322Pro) c.360-1879T>C (n.360-1879T>C) c.59T>C c.133T>C (p.Ser45Pro) c.23-1879T>C (n.23-1879T>C) c.1021T>C (p.Ser341Pro) | |
17 | g.42541149T>G | CA399600313 | NAGLU | c.964T>G (p.Ser322Ala) c.360-1879T>G (n.360-1879T>G) c.59T>G c.133T>G (p.Ser45Ala) c.23-1879T>G (n.23-1879T>G) c.1021T>G (p.Ser341Ala) | |
17 | g.42541150C>A | CA399600314 | NAGLU | c.965C>A (p.Ser322Ter) c.360-1878C>A (n.360-1878C>A) c.60C>A c.134C>A (p.Ser45Ter) c.23-1878C>A (n.23-1878C>A) c.1022C>A (p.Ser341Ter) | |
17 | g.42541150C= | CA2260529182 | NAGLU | c.965C= (p.Ser322=) c.360-1878C= (n.360-1878C=) c.60C= c.134C= (p.Ser45=) c.23-1878C= (n.23-1878C=) c.1022C= (p.Ser341=) | |
17 | g.42541150C>G | CA399600315 | NAGLU | c.965C>G (p.Ser322Ter) c.360-1878C>G (n.360-1878C>G) c.60C>G c.134C>G (p.Ser45Ter) c.23-1878C>G (n.23-1878C>G) c.1022C>G (p.Ser341Ter) | dbSNP |
17 | g.42541150C>T | CA8576906 | NAGLU | c.965C>T (p.Ser322Leu) c.360-1878C>T (n.360-1878C>T) c.60C>T c.134C>T (p.Ser45Leu) c.23-1878C>T (n.23-1878C>T) c.1022C>T (p.Ser341Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42541150_42541152delinsCAG | CA2260529181 | NAGLU | c.965_967delinsCAG (p.Ser322=) c.360-1878_360-1876delinsCAG (n.360-1878_360-1876delinsCAG) c.60_62delinsCAG c.134_136delinsCAG (p.Ser45=) c.23-1878_23-1876delinsCAG (n.23-1878_23-1876delinsCAG) c.1022_1024delinsCAG (p.Ser341=) | |
17 | g.42541151A>C | CA500216592 | NAGLU | c.966A>C (p.Ser322=) c.360-1877A>C (n.360-1877A>C) c.61A>C c.135A>C (p.Ser45=) c.23-1877A>C (n.23-1877A>C) c.1023A>C (p.Ser341=) | ClinVar |
17 | g.42541151A>G | CA500216593 | NAGLU | c.966A>G (p.Ser322=) c.360-1877A>G (n.360-1877A>G) c.61A>G c.135A>G (p.Ser45=) c.23-1877A>G (n.23-1877A>G) c.1023A>G (p.Ser341=) | |
17 | g.42541151A>T | CA500216591 | NAGLU | c.966A>T (p.Ser322=) c.360-1877A>T (n.360-1877A>T) c.61A>T c.135A>T (p.Ser45=) c.23-1877A>T (n.23-1877A>T) c.1023A>T (p.Ser341=) | |
17 | g.42541153_42541154del | CA290778725 | NAGLU | c.968_969del (p.Glu323AlafsTer13) c.360-1875_360-1874del (n.360-1875_360-1874del) c.63_64del c.137_138del (p.Glu46AlafsTer13) c.23-1875_23-1874del (n.23-1875_23-1874del) c.1025_1026del (p.Glu342AlafsTer13) | dbSNP |
17 | g.42541152G>A | CA399600318 | NAGLU | c.967G>A (p.Glu323Lys) c.360-1876G>A (n.360-1876G>A) c.62G>A c.136G>A (p.Glu46Lys) c.23-1876G>A (n.23-1876G>A) c.1024G>A (p.Glu342Lys) | |
17 | g.42541152G>C | CA399600317 | NAGLU | c.967G>C (p.Glu323Gln) c.360-1876G>C (n.360-1876G>C) c.62G>C c.136G>C (p.Glu46Gln) c.23-1876G>C (n.23-1876G>C) c.1024G>C (p.Glu342Gln) | |
17 | g.42541152G>T | CA399600316 | NAGLU | c.967G>T (p.Glu323Ter) c.360-1876G>T (n.360-1876G>T) c.62G>T c.136G>T (p.Glu46Ter) c.23-1876G>T (n.23-1876G>T) c.1024G>T (p.Glu342Ter) | |
17 | g.42541153A>C | CA399600319 | NAGLU | c.968A>C (p.Glu323Ala) c.360-1875A>C (n.360-1875A>C) c.63A>C c.137A>C (p.Glu46Ala) c.23-1875A>C (n.23-1875A>C) c.1025A>C (p.Glu342Ala) | |
17 | g.42541153A>G | CA399600320 | NAGLU | c.968A>G (p.Glu323Gly) c.360-1875A>G (n.360-1875A>G) c.63A>G c.137A>G (p.Glu46Gly) c.23-1875A>G (n.23-1875A>G) c.1025A>G (p.Glu342Gly) | |
17 | g.42541153A>T | CA399600321 | NAGLU | c.968A>T (p.Glu323Val) c.360-1875A>T (n.360-1875A>T) c.63A>T c.137A>T (p.Glu46Val) c.23-1875A>T (n.23-1875A>T) c.1025A>T (p.Glu342Val) | |
17 | g.42541154G>A | CA500216596 | NAGLU | c.969G>A (p.Glu323=) c.360-1874G>A (n.360-1874G>A) c.64G>A c.138G>A (p.Glu46=) c.23-1874G>A (n.23-1874G>A) c.1026G>A (p.Glu342=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42541154G>C | CA399600322 | NAGLU | c.969G>C (p.Glu323Asp) c.360-1874G>C (n.360-1874G>C) c.64G>C c.138G>C (p.Glu46Asp) c.23-1874G>C (n.23-1874G>C) c.1026G>C (p.Glu342Asp) | |
17 | g.42541154G= | CA2260529183 | NAGLU | c.969G= (p.Glu323=) c.360-1874G= (n.360-1874G=) c.64G= c.138G= (p.Glu46=) c.23-1874G= (n.23-1874G=) c.1026G= (p.Glu342=) | |
17 | g.42541154G>T | CA399600323 | NAGLU | c.969G>T (p.Glu323Asp) c.360-1874G>T (n.360-1874G>T) c.64G>T c.138G>T (p.Glu46Asp) c.23-1874G>T (n.23-1874G>T) c.1026G>T (p.Glu342Asp) | dbSNP |
17 | g.42541155C>A | CA399600324 | NAGLU | c.970C>A (p.Pro324Thr) c.360-1873C>A (n.360-1873C>A) c.65C>A c.139C>A (p.Pro47Thr) c.23-1873C>A (n.23-1873C>A) c.1027C>A (p.Pro343Thr) | |
17 | g.42541155C>G | CA399600325 | NAGLU | c.970C>G (p.Pro324Ala) c.360-1873C>G (n.360-1873C>G) c.65C>G c.139C>G (p.Pro47Ala) c.23-1873C>G (n.23-1873C>G) c.1027C>G (p.Pro343Ala) | |
17 | g.42541155C>T | CA399600326 | NAGLU | c.970C>T (p.Pro324Ser) c.360-1873C>T (n.360-1873C>T) c.65C>T c.139C>T (p.Pro47Ser) c.23-1873C>T (n.23-1873C>T) c.1027C>T (p.Pro343Ser) | gnomAD v4 |
17 | g.42541156C>A | CA399600327 | NAGLU | c.971C>A (p.Pro324His) c.360-1872C>A (n.360-1872C>A) c.66C>A c.140C>A (p.Pro47His) c.23-1872C>A (n.23-1872C>A) c.1028C>A (p.Pro343His) | |
17 | g.42541156C>G | CA399600328 | NAGLU | c.971C>G (p.Pro324Arg) c.360-1872C>G (n.360-1872C>G) c.66C>G c.140C>G (p.Pro47Arg) c.23-1872C>G (n.23-1872C>G) c.1028C>G (p.Pro343Arg) | gnomAD v4 |
17 | g.42541156C>T | CA399600329 | NAGLU | c.971C>T (p.Pro324Leu) c.360-1872C>T (n.360-1872C>T) c.66C>T c.140C>T (p.Pro47Leu) c.23-1872C>T (n.23-1872C>T) c.1028C>T (p.Pro343Leu) | ClinVar gnomAD v4 |
17 | g.42541157C>A | CA500216597 | NAGLU | c.972C>A (p.Pro324=) c.360-1871C>A (n.360-1871C>A) c.67C>A c.141C>A (p.Pro47=) c.23-1871C>A (n.23-1871C>A) c.1029C>A (p.Pro343=) | |
17 | g.42541157C>G | CA500216599 | NAGLU | c.972C>G (p.Pro324=) c.360-1871C>G (n.360-1871C>G) c.67C>G c.141C>G (p.Pro47=) c.23-1871C>G (n.23-1871C>G) c.1029C>G (p.Pro343=) | |
17 | g.42541157C>T | CA500216598 | NAGLU | c.972C>T (p.Pro324=) c.360-1871C>T (n.360-1871C>T) c.67C>T c.141C>T (p.Pro47=) c.23-1871C>T (n.23-1871C>T) c.1029C>T (p.Pro343=) | |
17 | g.42541158T>A | CA399600330 | NAGLU | c.973T>A (p.Ser325Thr) c.360-1870T>A (n.360-1870T>A) c.68T>A c.142T>A (p.Ser48Thr) c.23-1870T>A (n.23-1870T>A) c.1030T>A (p.Ser344Thr) | |
17 | g.42541158T>C | CA399600331 | NAGLU | c.973T>C (p.Ser325Pro) c.360-1870T>C (n.360-1870T>C) c.68T>C c.142T>C (p.Ser48Pro) c.23-1870T>C (n.23-1870T>C) c.1030T>C (p.Ser344Pro) | |
17 | g.42541158T>G | CA399600332 | NAGLU | c.973T>G (p.Ser325Ala) c.360-1870T>G (n.360-1870T>G) c.68T>G c.142T>G (p.Ser48Ala) c.23-1870T>G (n.23-1870T>G) c.1030T>G (p.Ser344Ala) | |
17 | g.42541159C>A | CA399600334 | NAGLU | c.974C>A (p.Ser325Tyr) c.360-1869C>A (n.360-1869C>A) c.69C>A c.143C>A (p.Ser48Tyr) c.23-1869C>A (n.23-1869C>A) c.1031C>A (p.Ser344Tyr) | |
17 | g.42541159C>G | CA399600335 | NAGLU | c.974C>G (p.Ser325Cys) c.360-1869C>G (n.360-1869C>G) c.69C>G c.143C>G (p.Ser48Cys) c.23-1869C>G (n.23-1869C>G) c.1031C>G (p.Ser344Cys) | gnomAD v4 |
17 | g.42541159C>T | CA399600333 | NAGLU | c.974C>T (p.Ser325Phe) c.360-1869C>T (n.360-1869C>T) c.69C>T c.143C>T (p.Ser48Phe) c.23-1869C>T (n.23-1869C>T) c.1031C>T (p.Ser344Phe) | COSMIC |
17 | g.42541160C>A | CA500216604 | NAGLU | c.975C>A (p.Ser325=) c.360-1868C>A (n.360-1868C>A) c.70C>A c.144C>A (p.Ser48=) c.23-1868C>A (n.23-1868C>A) c.1032C>A (p.Ser344=) | ClinVar |
17 | g.42541160C= | CA2260529184 | NAGLU | c.975C= (p.Ser325=) c.360-1868C= (n.360-1868C=) c.70C= c.144C= (p.Ser48=) c.23-1868C= (n.23-1868C=) c.1032C= (p.Ser344=) | |
17 | g.42541160C>G | CA500216603 | NAGLU | c.975C>G (p.Ser325=) c.360-1868C>G (n.360-1868C>G) c.70C>G c.144C>G (p.Ser48=) c.23-1868C>G (n.23-1868C>G) c.1032C>G (p.Ser344=) | |
17 | g.42541160C>T | CA500216601 | NAGLU | c.975C>T (p.Ser325=) c.360-1868C>T (n.360-1868C>T) c.70C>T c.144C>T (p.Ser48=) c.23-1868C>T (n.23-1868C>T) c.1032C>T (p.Ser344=) | dbSNP gnomAD v2 COSMIC |
17 | g.42541161T>A | CA399600336 | NAGLU | c.976T>A (p.Tyr326Asn) c.360-1867T>A (n.360-1867T>A) c.71T>A c.145T>A (p.Tyr49Asn) c.23-1867T>A (n.23-1867T>A) c.1033T>A (p.Tyr345Asn) | |
17 | g.42541161T>C | CA399600337 | NAGLU | c.976T>C (p.Tyr326His) c.360-1867T>C (n.360-1867T>C) c.71T>C c.145T>C (p.Tyr49His) c.23-1867T>C (n.23-1867T>C) c.1033T>C (p.Tyr345His) | dbSNP |
17 | g.42541161T>G | CA399600338 | NAGLU | c.976T>G (p.Tyr326Asp) c.360-1867T>G (n.360-1867T>G) c.71T>G c.145T>G (p.Tyr49Asp) c.23-1867T>G (n.23-1867T>G) c.1033T>G (p.Tyr345Asp) | |
17 | g.42541161T= | CA2260529185 | NAGLU | c.976T= (p.Tyr326=) c.360-1867T= (n.360-1867T=) c.71T= c.145T= (p.Tyr49=) c.23-1867T= (n.23-1867T=) c.1033T= (p.Tyr345=) | |
17 | g.42541162A= | CA2260529186 | NAGLU | c.977A= (p.Tyr326=) c.360-1866A= (n.360-1866A=) c.72A= c.146A= (p.Tyr49=) c.23-1866A= (n.23-1866A=) c.1034A= (p.Tyr345=) | |
17 | g.42541162A>C | CA399600339 | NAGLU | c.977A>C (p.Tyr326Ser) c.360-1866A>C (n.360-1866A>C) c.72A>C c.146A>C (p.Tyr49Ser) c.23-1866A>C (n.23-1866A>C) c.1034A>C (p.Tyr345Ser) | dbSNP |
17 | g.42541162A>G | CA399600340 | NAGLU | c.977A>G (p.Tyr326Cys) c.360-1866A>G (n.360-1866A>G) c.72A>G c.146A>G (p.Tyr49Cys) c.23-1866A>G (n.23-1866A>G) c.1034A>G (p.Tyr345Cys) | |
17 | g.42541162A>T | CA399600341 | NAGLU | c.977A>T (p.Tyr326Phe) c.360-1866A>T (n.360-1866A>T) c.72A>T c.146A>T (p.Tyr49Phe) c.23-1866A>T (n.23-1866A>T) c.1034A>T (p.Tyr345Phe) | |
17 | g.42541163C>A | CA399600342 | NAGLU | c.978C>A (p.Tyr326Ter) c.360-1865C>A (n.360-1865C>A) c.73C>A c.147C>A (p.Tyr49Ter) c.23-1865C>A (n.23-1865C>A) c.1035C>A (p.Tyr345Ter) | |
17 | g.42541163C>G | CA399600343 | NAGLU | c.978C>G (p.Tyr326Ter) c.360-1865C>G (n.360-1865C>G) c.73C>G c.147C>G (p.Tyr49Ter) c.23-1865C>G (n.23-1865C>G) c.1035C>G (p.Tyr345Ter) | |
17 | g.42541163C>T | CA500216607 | NAGLU | c.978C>T (p.Tyr326=) c.360-1865C>T (n.360-1865C>T) c.73C>T c.147C>T (p.Tyr49=) c.23-1865C>T (n.23-1865C>T) c.1035C>T (p.Tyr345=) | |
17 | g.42541164C>A | CA399600344 | NAGLU | c.979C>A (p.Leu327Ile) c.360-1864C>A (n.360-1864C>A) c.74C>A c.148C>A (p.Leu50Ile) c.23-1864C>A (n.23-1864C>A) c.1036C>A (p.Leu346Ile) | |
17 | g.42541164C= | CA2260529187 | NAGLU | c.979C= (p.Leu327=) c.360-1864C= (n.360-1864C=) c.74C= c.148C= (p.Leu50=) c.23-1864C= (n.23-1864C=) c.1036C= (p.Leu346=) | |
17 | g.42541164C>G | CA399600345 | NAGLU | c.979C>G (p.Leu327Val) c.360-1864C>G (n.360-1864C>G) c.74C>G c.148C>G (p.Leu50Val) c.23-1864C>G (n.23-1864C>G) c.1036C>G (p.Leu346Val) | |
17 | g.42541164C>T | CA8576907 | NAGLU | c.979C>T (p.Leu327Phe) c.360-1864C>T (n.360-1864C>T) c.74C>T c.148C>T (p.Leu50Phe) c.23-1864C>T (n.23-1864C>T) c.1036C>T (p.Leu346Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42541165T>A | CA399600348 | NAGLU | c.980T>A (p.Leu327His) c.360-1863T>A (n.360-1863T>A) c.75T>A c.149T>A (p.Leu50His) c.23-1863T>A (n.23-1863T>A) c.1037T>A (p.Leu346His) | |
17 | g.42541165T>C | CA399600347 | NAGLU | c.980T>C (p.Leu327Pro) c.360-1863T>C (n.360-1863T>C) c.75T>C c.149T>C (p.Leu50Pro) c.23-1863T>C (n.23-1863T>C) c.1037T>C (p.Leu346Pro) | |
17 | g.42541165T>G | CA399600346 | NAGLU | c.980T>G (p.Leu327Arg) c.360-1863T>G (n.360-1863T>G) c.75T>G c.149T>G (p.Leu50Arg) c.23-1863T>G (n.23-1863T>G) c.1037T>G (p.Leu346Arg) | |
17 | g.42541166T>A | CA500216609 | NAGLU | c.981T>A (p.Leu327=) c.360-1862T>A (n.360-1862T>A) c.76T>A c.150T>A (p.Leu50=) c.23-1862T>A (n.23-1862T>A) c.1038T>A (p.Leu346=) | |
17 | g.42541166T>C | CA500216611 | NAGLU | c.981T>C (p.Leu327=) c.360-1862T>C (n.360-1862T>C) c.76T>C c.150T>C (p.Leu50=) c.23-1862T>C (n.23-1862T>C) c.1038T>C (p.Leu346=) | |
17 | g.42541166T>G | CA500216612 | NAGLU | c.981T>G (p.Leu327=) c.360-1862T>G (n.360-1862T>G) c.76T>G c.150T>G (p.Leu50=) c.23-1862T>G (n.23-1862T>G) c.1038T>G (p.Leu346=) | |
17 | g.42541167G>A | CA399600349 | NAGLU | c.982G>A (p.Ala328Thr) c.360-1861G>A (n.360-1861G>A) c.77G>A c.151G>A (p.Ala51Thr) c.23-1861G>A (n.23-1861G>A) c.1039G>A (p.Ala347Thr) | |
17 | g.42541167G>C | CA399600350 | NAGLU | c.982G>C (p.Ala328Pro) c.360-1861G>C (n.360-1861G>C) c.77G>C c.151G>C (p.Ala51Pro) c.23-1861G>C (n.23-1861G>C) c.1039G>C (p.Ala347Pro) | |
17 | g.42541167G>T | CA399600351 | NAGLU | c.982G>T (p.Ala328Ser) c.360-1861G>T (n.360-1861G>T) c.77G>T c.151G>T (p.Ala51Ser) c.23-1861G>T (n.23-1861G>T) c.1039G>T (p.Ala347Ser) | |
17 | g.42541168C>A | CA399600352 | NAGLU | c.983C>A (p.Ala328Asp) c.360-1860C>A (n.360-1860C>A) c.78C>A c.152C>A (p.Ala51Asp) c.23-1860C>A (n.23-1860C>A) c.1040C>A (p.Ala347Asp) | |
17 | g.42541168C>G | CA399600353 | NAGLU | c.983C>G (p.Ala328Gly) c.360-1860C>G (n.360-1860C>G) c.78C>G c.152C>G (p.Ala51Gly) c.23-1860C>G (n.23-1860C>G) c.1040C>G (p.Ala347Gly) | |
17 | g.42541168C>T | CA399600354 | NAGLU | c.983C>T (p.Ala328Val) c.360-1860C>T (n.360-1860C>T) c.78C>T c.152C>T (p.Ala51Val) c.23-1860C>T (n.23-1860C>T) c.1040C>T (p.Ala347Val) | COSMIC |
17 | g.42541169C>A | CA500216614 | NAGLU | c.984C>A (p.Ala328=) c.360-1859C>A (n.360-1859C>A) c.79C>A c.153C>A (p.Ala51=) c.23-1859C>A (n.23-1859C>A) c.1041C>A (p.Ala347=) | |
17 | g.42541169C= | CA2260529188 | NAGLU | c.984C= (p.Ala328=) c.360-1859C= (n.360-1859C=) c.79C= c.153C= (p.Ala51=) c.23-1859C= (n.23-1859C=) c.1041C= (p.Ala347=) | |
17 | g.42541169C>G | CA500216615 | NAGLU | c.984C>G (p.Ala328=) c.360-1859C>G (n.360-1859C>G) c.79C>G c.153C>G (p.Ala51=) c.23-1859C>G (n.23-1859C>G) c.1041C>G (p.Ala347=) | |
17 | g.42541169C>T | CA8576908 | NAGLU | c.984C>T (p.Ala328=) c.360-1859C>T (n.360-1859C>T) c.79C>T c.153C>T (p.Ala51=) c.23-1859C>T (n.23-1859C>T) c.1041C>T (p.Ala347=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42541170G>A | CA8576909 | NAGLU | c.985G>A (p.Ala329Thr) c.360-1858G>A (n.360-1858G>A) c.80G>A c.154G>A (p.Ala52Thr) c.23-1858G>A (n.23-1858G>A) c.1042G>A (p.Ala348Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42541170G>C | CA399600355 | NAGLU | c.985G>C (p.Ala329Pro) c.360-1858G>C (n.360-1858G>C) c.80G>C c.154G>C (p.Ala52Pro) c.23-1858G>C (n.23-1858G>C) c.1042G>C (p.Ala348Pro) | gnomAD v4 |
17 | g.42541170G= | CA2260529189 | NAGLU | c.985G= (p.Ala329=) c.360-1858G= (n.360-1858G=) c.80G= c.154G= (p.Ala52=) c.23-1858G= (n.23-1858G=) c.1042G= (p.Ala348=) | |
17 | g.42541170G>T | CA399600356 | NAGLU | c.985G>T (p.Ala329Ser) c.360-1858G>T (n.360-1858G>T) c.80G>T c.154G>T (p.Ala52Ser) c.23-1858G>T (n.23-1858G>T) c.1042G>T (p.Ala348Ser) | |
17 | g.42541171C>A | CA399600357 | NAGLU | c.986C>A (p.Ala329Glu) c.360-1857C>A (n.360-1857C>A) c.81C>A c.155C>A (p.Ala52Glu) c.23-1857C>A (n.23-1857C>A) c.1043C>A (p.Ala348Glu) | |
17 | g.42541171C>G | CA399600358 | NAGLU | c.986C>G (p.Ala329Gly) c.360-1857C>G (n.360-1857C>G) c.81C>G c.155C>G (p.Ala52Gly) c.23-1857C>G (n.23-1857C>G) c.1043C>G (p.Ala348Gly) | |
17 | g.42541171C>T | CA399600359 | NAGLU | c.986C>T (p.Ala329Val) c.360-1857C>T (n.360-1857C>T) c.81C>T c.155C>T (p.Ala52Val) c.23-1857C>T (n.23-1857C>T) c.1043C>T (p.Ala348Val) | COSMIC |
17 | g.42541172A>C | CA500216619 | NAGLU | c.987A>C (p.Ala329=) c.360-1856A>C (n.360-1856A>C) c.82A>C c.156A>C (p.Ala52=) c.23-1856A>C (n.23-1856A>C) c.1044A>C (p.Ala348=) | |
17 | g.42541172A>G | CA500216621 | NAGLU | c.987A>G (p.Ala329=) c.360-1856A>G (n.360-1856A>G) c.82A>G c.156A>G (p.Ala52=) c.23-1856A>G (n.23-1856A>G) c.1044A>G (p.Ala348=) | ClinVar dbSNP |
17 | g.42541172A>T | CA500216617 | NAGLU | c.987A>T (p.Ala329=) c.360-1856A>T (n.360-1856A>T) c.82A>T c.156A>T (p.Ala52=) c.23-1856A>T (n.23-1856A>T) c.1044A>T (p.Ala348=) | |
17 | g.42541173G>A | CA399600361 | NAGLU | c.988G>A (p.Ala330Thr) c.360-1855G>A (n.360-1855G>A) c.83G>A c.157G>A (p.Ala53Thr) c.23-1855G>A (n.23-1855G>A) c.1045G>A (p.Ala349Thr) | COSMIC |
17 | g.42541173G>C | CA399600362 | NAGLU | c.988G>C (p.Ala330Pro) c.360-1855G>C (n.360-1855G>C) c.83G>C c.157G>C (p.Ala53Pro) c.23-1855G>C (n.23-1855G>C) c.1045G>C (p.Ala349Pro) | |
17 | g.42541173G>T | CA399600360 | NAGLU | c.988G>T (p.Ala330Ser) c.360-1855G>T (n.360-1855G>T) c.83G>T c.157G>T (p.Ala53Ser) c.23-1855G>T (n.23-1855G>T) c.1045G>T (p.Ala349Ser) | |
17 | g.42541174C>A | CA399600364 | NAGLU | c.989C>A (p.Ala330Asp) c.360-1854C>A (n.360-1854C>A) c.84C>A c.158C>A (p.Ala53Asp) c.23-1854C>A (n.23-1854C>A) c.1046C>A (p.Ala349Asp) | |
17 | g.42541174C= | CA2260529190 | NAGLU | c.989C= (p.Ala330=) c.360-1854C= (n.360-1854C=) c.84C= c.158C= (p.Ala53=) c.23-1854C= (n.23-1854C=) c.1046C= (p.Ala349=) | |
17 | g.42541174C>G | CA399600363 | NAGLU | c.989C>G (p.Ala330Gly) c.360-1854C>G (n.360-1854C>G) c.84C>G c.158C>G (p.Ala53Gly) c.23-1854C>G (n.23-1854C>G) c.1046C>G (p.Ala349Gly) | |
17 | g.42541174C>T | CA399600365 | NAGLU | c.989C>T (p.Ala330Val) c.360-1854C>T (n.360-1854C>T) c.84C>T c.158C>T (p.Ala53Val) c.23-1854C>T (n.23-1854C>T) c.1046C>T (p.Ala349Val) | dbSNP |
17 | g.42541175C>A | CA500216624 | NAGLU | c.990C>A (p.Ala330=) c.360-1853C>A (n.360-1853C>A) c.85C>A c.159C>A (p.Ala53=) c.23-1853C>A (n.23-1853C>A) c.1047C>A (p.Ala349=) | |
17 | g.42541175C= | CA2260529191 | NAGLU | c.990C= (p.Ala330=) c.360-1853C= (n.360-1853C=) c.85C= c.159C= (p.Ala53=) c.23-1853C= (n.23-1853C=) c.1047C= (p.Ala349=) | |
17 | g.42541175C>G | CA500216623 | NAGLU | c.990C>G (p.Ala330=) c.360-1853C>G (n.360-1853C>G) c.85C>G c.159C>G (p.Ala53=) c.23-1853C>G (n.23-1853C>G) c.1047C>G (p.Ala349=) | |
17 | g.42541175C>T | CA290778772 | NAGLU | c.990C>T (p.Ala330=) c.360-1853C>T (n.360-1853C>T) c.85C>T c.159C>T (p.Ala53=) c.23-1853C>T (n.23-1853C>T) c.1047C>T (p.Ala349=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42541176A>C | CA399600366 | NAGLU | c.991A>C (p.Thr331Pro) c.360-1852A>C (n.360-1852A>C) c.86A>C c.160A>C (p.Thr54Pro) c.23-1852A>C (n.23-1852A>C) c.1048A>C (p.Thr350Pro) | |
17 | g.42541176A>G | CA399600368 | NAGLU | c.991A>G (p.Thr331Ala) c.360-1852A>G (n.360-1852A>G) c.86A>G c.160A>G (p.Thr54Ala) c.23-1852A>G (n.23-1852A>G) c.1048A>G (p.Thr350Ala) | |
17 | g.42541176A>T | CA399600367 | NAGLU | c.991A>T (p.Thr331Ser) c.360-1852A>T (n.360-1852A>T) c.86A>T c.160A>T (p.Thr54Ser) c.23-1852A>T (n.23-1852A>T) c.1048A>T (p.Thr350Ser) | |
17 | g.42541177C>A | CA399600369 | NAGLU | c.992C>A (p.Thr331Asn) c.360-1851C>A (n.360-1851C>A) c.87C>A c.161C>A (p.Thr54Asn) c.23-1851C>A (n.23-1851C>A) c.1049C>A (p.Thr350Asn) | |
17 | g.42541177C>G | CA399600371 | NAGLU | c.992C>G (p.Thr331Ser) c.360-1851C>G (n.360-1851C>G) c.87C>G c.161C>G (p.Thr54Ser) c.23-1851C>G (n.23-1851C>G) c.1049C>G (p.Thr350Ser) | |
17 | g.42541177C>T | CA399600370 | NAGLU | c.992C>T (p.Thr331Ile) c.360-1851C>T (n.360-1851C>T) c.87C>T c.161C>T (p.Thr54Ile) c.23-1851C>T (n.23-1851C>T) c.1049C>T (p.Thr350Ile) | |
17 | g.42541178C>A | CA500216627 | NAGLU | c.993C>A (p.Thr331=) c.360-1850C>A (n.360-1850C>A) c.88C>A c.162C>A (p.Thr54=) c.23-1850C>A (n.23-1850C>A) c.1050C>A (p.Thr350=) | |
17 | g.42541178C= | CA2260529192 | NAGLU | c.993C= (p.Thr331=) c.360-1850C= (n.360-1850C=) c.88C= c.162C= (p.Thr54=) c.23-1850C= (n.23-1850C=) c.1050C= (p.Thr350=) | |
17 | g.42541178C>G | CA500216626 | NAGLU | c.993C>G (p.Thr331=) c.360-1850C>G (n.360-1850C>G) c.88C>G c.162C>G (p.Thr54=) c.23-1850C>G (n.23-1850C>G) c.1050C>G (p.Thr350=) | ClinVar |
17 | g.42541178C>T | CA8576910 | NAGLU | c.993C>T (p.Thr331=) c.360-1850C>T (n.360-1850C>T) c.88C>T c.162C>T (p.Thr54=) c.23-1850C>T (n.23-1850C>T) c.1050C>T (p.Thr350=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42541178_42541181delinsCACT | CA2260529193 | NAGLU | c.993_996delinsCACT (p.Thr331=) c.360-1850_360-1847delinsCACT (n.360-1850_360-1847delinsCACT) c.88_91delinsCACT c.162_165delinsCACT (p.Thr54=) c.23-1850_23-1847delinsCACT (n.23-1850_23-1847delinsCACT) c.1050_1053delinsCACT (p.Thr350=) | |
17 | g.42541179A= | CA2260529195 | NAGLU | c.994A= (p.Thr332=) c.360-1849A= (n.360-1849A=) c.89A= c.163A= (p.Thr55=) c.23-1849A= (n.23-1849A=) c.1051A= (p.Thr351=) | |
17 | g.42541179A>C | CA399600374 | NAGLU | c.994A>C (p.Thr332Pro) c.360-1849A>C (n.360-1849A>C) c.89A>C c.163A>C (p.Thr55Pro) c.23-1849A>C (n.23-1849A>C) c.1051A>C (p.Thr351Pro) | |
17 | g.42541179A>G | CA399600372 | NAGLU | c.994A>G (p.Thr332Ala) c.360-1849A>G (n.360-1849A>G) c.89A>G c.163A>G (p.Thr55Ala) c.23-1849A>G (n.23-1849A>G) c.1051A>G (p.Thr351Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42541179A>T | CA399600373 | NAGLU | c.994A>T (p.Thr332Ser) c.360-1849A>T (n.360-1849A>T) c.89A>T c.163A>T (p.Thr55Ser) c.23-1849A>T (n.23-1849A>T) c.1051A>T (p.Thr351Ser) | |
17 | g.42541179_42541181del | CA2260529194 | NAGLU | c.994_996del (p.Thr332del) c.360-1849_360-1847del (n.360-1849_360-1847del) c.89_91del c.163_165del (p.Thr55del) c.23-1849_23-1847del (n.23-1849_23-1847del) c.1051_1053del (p.Thr351del) | dbSNP |
17 | g.42541184_42541204dup | CA2637970047 | NAGLU | c.999_1019dup (p.Ala340_Val341insValTyrGluAlaMetThrAla) c.360-1844_360-1824dup (n.360-1844_360-1824dup) c.94_114dup c.168_188dup (p.Ala63_Val64insValTyrGluAlaMetThrAla) c.23-1844_23-1824dup (n.23-1844_23-1824dup) c.1056_1076dup (p.Ala359_Val360insValTyrGluAlaMetThrAla) | gnomAD v4 |
17 | g.42541180C>A | CA399600375 | NAGLU | c.995C>A (p.Thr332Asn) c.360-1848C>A (n.360-1848C>A) c.90C>A c.164C>A (p.Thr55Asn) c.23-1848C>A (n.23-1848C>A) c.1052C>A (p.Thr351Asn) | |
17 | g.42541180C= | CA2260529196 | NAGLU | c.995C= (p.Thr332=) c.360-1848C= (n.360-1848C=) c.90C= c.164C= (p.Thr55=) c.23-1848C= (n.23-1848C=) c.1052C= (p.Thr351=) | |
17 | g.42541180C>G | CA399600376 | NAGLU | c.995C>G (p.Thr332Ser) c.360-1848C>G (n.360-1848C>G) c.90C>G c.164C>G (p.Thr55Ser) c.23-1848C>G (n.23-1848C>G) c.1052C>G (p.Thr351Ser) | gnomAD v4 |
17 | g.42541180C>T | CA8576911 | NAGLU | c.995C>T (p.Thr332Ile) c.360-1848C>T (n.360-1848C>T) c.90C>T c.164C>T (p.Thr55Ile) c.23-1848C>T (n.23-1848C>T) c.1052C>T (p.Thr351Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42541181T>A | CA500216630 | NAGLU | c.996T>A (p.Thr332=) c.360-1847T>A (n.360-1847T>A) c.91T>A c.165T>A (p.Thr55=) c.23-1847T>A (n.23-1847T>A) c.1053T>A (p.Thr351=) | |
17 | g.42541181T>C | CA8576912 | NAGLU | c.996T>C (p.Thr332=) c.360-1847T>C (n.360-1847T>C) c.91T>C c.165T>C (p.Thr55=) c.23-1847T>C (n.23-1847T>C) c.1053T>C (p.Thr351=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42541181T>G | CA500216631 | NAGLU | c.996T>G (p.Thr332=) c.360-1847T>G (n.360-1847T>G) c.91T>G c.165T>G (p.Thr55=) c.23-1847T>G (n.23-1847T>G) c.1053T>G (p.Thr351=) | |
17 | g.42541181T= | CA2260529197 | NAGLU | c.996T= (p.Thr332=) c.360-1847T= (n.360-1847T=) c.91T= c.165T= (p.Thr55=) c.23-1847T= (n.23-1847T=) c.1053T= (p.Thr351=) | |
17 | g.42541183_42541199del | CA2580094136 | NAGLU | c.998_1014del (p.Ala333AspfsTer6) c.360-1845_360-1829del (n.360-1845_360-1829del) c.93_109del c.167_183del (p.Ala56AspfsTer6) c.23-1845_23-1829del (n.23-1845_23-1829del) c.1055_1071del (p.Ala352AspfsTer6) | ClinVar |
17 | g.42541182G>A | CA290778794 | NAGLU | c.997G>A (p.Ala333Thr) c.360-1846G>A (n.360-1846G>A) c.92G>A c.166G>A (p.Ala56Thr) c.23-1846G>A (n.23-1846G>A) c.1054G>A (p.Ala352Thr) | dbSNP gnomAD v4 |
17 | g.42541182G>C | CA399600377 | NAGLU | c.997G>C (p.Ala333Pro) c.360-1846G>C (n.360-1846G>C) c.92G>C c.166G>C (p.Ala56Pro) c.23-1846G>C (n.23-1846G>C) c.1054G>C (p.Ala352Pro) | |
17 | g.42541182G= | CA2260529198 | NAGLU | c.997G= (p.Ala333=) c.360-1846G= (n.360-1846G=) c.92G= c.166G= (p.Ala56=) c.23-1846G= (n.23-1846G=) c.1054G= (p.Ala352=) | |
17 | g.42541182G>T | CA399600378 | NAGLU | c.997G>T (p.Ala333Ser) c.360-1846G>T (n.360-1846G>T) c.92G>T c.166G>T (p.Ala56Ser) c.23-1846G>T (n.23-1846G>T) c.1054G>T (p.Ala352Ser) | |
17 | g.42541183C>A | CA399600379 | NAGLU | c.998C>A (p.Ala333Asp) c.360-1845C>A (n.360-1845C>A) c.93C>A c.167C>A (p.Ala56Asp) c.23-1845C>A (n.23-1845C>A) c.1055C>A (p.Ala352Asp) | |
17 | g.42541183C= | CA2260529199 | NAGLU | c.998C= (p.Ala333=) c.360-1845C= (n.360-1845C=) c.93C= c.167C= (p.Ala56=) c.23-1845C= (n.23-1845C=) c.1055C= (p.Ala352=) | |
17 | g.42541183C>G | CA399600380 | NAGLU | c.998C>G (p.Ala333Gly) c.360-1845C>G (n.360-1845C>G) c.93C>G c.167C>G (p.Ala56Gly) c.23-1845C>G (n.23-1845C>G) c.1055C>G (p.Ala352Gly) | |
17 | g.42541183C>T | CA399600381 | NAGLU | c.998C>T (p.Ala333Val) c.360-1845C>T (n.360-1845C>T) c.93C>T c.167C>T (p.Ala56Val) c.23-1845C>T (n.23-1845C>T) c.1055C>T (p.Ala352Val) | dbSNP |
17 | g.42541184C>A | CA500216633 | NAGLU | c.999C>A (p.Ala333=) c.360-1844C>A (n.360-1844C>A) c.94C>A c.168C>A (p.Ala56=) c.23-1844C>A (n.23-1844C>A) c.1056C>A (p.Ala352=) | |
17 | g.42541184C= | CA2260529200 | NAGLU | c.999C= (p.Ala333=) c.360-1844C= (n.360-1844C=) c.94C= c.168C= (p.Ala56=) c.23-1844C= (n.23-1844C=) c.1056C= (p.Ala352=) | |
17 | g.42541184C>G | CA500216634 | NAGLU | c.999C>G (p.Ala333=) c.360-1844C>G (n.360-1844C>G) c.94C>G c.168C>G (p.Ala56=) c.23-1844C>G (n.23-1844C>G) c.1056C>G (p.Ala352=) | |
17 | g.42541184C>T | CA290778806 | NAGLU | c.999C>T (p.Ala333=) c.360-1844C>T (n.360-1844C>T) c.94C>T c.168C>T (p.Ala56=) c.23-1844C>T (n.23-1844C>T) c.1056C>T (p.Ala352=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42541185G>A | CA8576913 | NAGLU | c.1000G>A (p.Val334Ile) c.360-1843G>A (n.360-1843G>A) c.95G>A c.169G>A (p.Val57Ile) c.23-1843G>A (n.23-1843G>A) c.1057G>A (p.Val353Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.42541185G>C | CA399600382 | NAGLU | c.1000G>C (p.Val334Leu) c.360-1843G>C (n.360-1843G>C) c.95G>C c.169G>C (p.Val57Leu) c.23-1843G>C (n.23-1843G>C) c.1057G>C (p.Val353Leu) | |
17 | g.42541185G= | CA2260529201 | NAGLU | c.1000G= (p.Val334=) c.360-1843G= (n.360-1843G=) c.95G= c.169G= (p.Val57=) c.23-1843G= (n.23-1843G=) c.1057G= (p.Val353=) | |
17 | g.42541185G>T | CA290778808 | NAGLU | c.1000G>T (p.Val334Phe) c.360-1843G>T (n.360-1843G>T) c.95G>T c.169G>T (p.Val57Phe) c.23-1843G>T (n.23-1843G>T) c.1057G>T (p.Val353Phe) | ClinVar dbSNP gnomAD v4 |
17 | g.42541186T>A | CA399600383 | NAGLU | c.1001T>A (p.Val334Asp) c.360-1842T>A (n.360-1842T>A) c.96T>A c.170T>A (p.Val57Asp) c.23-1842T>A (n.23-1842T>A) c.1058T>A (p.Val353Asp) | |
17 | g.42541186T>C | CA399600384 | NAGLU | c.1001T>C (p.Val334Ala) c.360-1842T>C (n.360-1842T>C) c.96T>C c.170T>C (p.Val57Ala) c.23-1842T>C (n.23-1842T>C) c.1058T>C (p.Val353Ala) | |
17 | g.42541186T>G | CA399600385 | NAGLU | c.1001T>G (p.Val334Gly) c.360-1842T>G (n.360-1842T>G) c.96T>G c.170T>G (p.Val57Gly) c.23-1842T>G (n.23-1842T>G) c.1058T>G (p.Val353Gly) | |
17 | g.42541187C>A | CA500216639 | NAGLU | c.1002C>A (p.Val334=) c.360-1841C>A (n.360-1841C>A) c.97C>A c.171C>A (p.Val57=) c.23-1841C>A (n.23-1841C>A) c.1059C>A (p.Val353=) | |
17 | g.42541187C= | CA2260529202 | NAGLU | c.1002C= (p.Val334=) c.360-1841C= (n.360-1841C=) c.97C= c.171C= (p.Val57=) c.23-1841C= (n.23-1841C=) c.1059C= (p.Val353=) | |
17 | g.42541187C>G | CA500216636 | NAGLU | c.1002C>G (p.Val334=) c.360-1841C>G (n.360-1841C>G) c.97C>G c.171C>G (p.Val57=) c.23-1841C>G (n.23-1841C>G) c.1059C>G (p.Val353=) | |
17 | g.42541187C>T | CA290778813 | NAGLU | c.1002C>T (p.Val334=) c.360-1841C>T (n.360-1841C>T) c.97C>T c.171C>T (p.Val57=) c.23-1841C>T (n.23-1841C>T) c.1059C>T (p.Val353=) | dbSNP gnomAD v4 |
17 | g.42541188T>A | CA399600386 | NAGLU | c.1003T>A (p.Tyr335Asn) c.360-1840T>A (n.360-1840T>A) c.98T>A c.172T>A (p.Tyr58Asn) c.23-1840T>A (n.23-1840T>A) c.1060T>A (p.Tyr354Asn) | |
17 | g.42541188T>C | CA399600387 | NAGLU | c.1003T>C (p.Tyr335His) c.360-1840T>C (n.360-1840T>C) c.98T>C c.172T>C (p.Tyr58His) c.23-1840T>C (n.23-1840T>C) c.1060T>C (p.Tyr354His) | |
17 | g.42541188T>G | CA399600388 | NAGLU | c.1003T>G (p.Tyr335Asp) c.360-1840T>G (n.360-1840T>G) c.98T>G c.172T>G (p.Tyr58Asp) c.23-1840T>G (n.23-1840T>G) c.1060T>G (p.Tyr354Asp) | |
17 | g.42541189A= | CA2260529203 | NAGLU | c.1004A= (p.Tyr335=) c.360-1839A= (n.360-1839A=) c.99A= c.173A= (p.Tyr58=) c.23-1839A= (n.23-1839A=) c.1061A= (p.Tyr354=) | |
17 | g.42541189A>C | CA399600389 | NAGLU | c.1004A>C (p.Tyr335Ser) c.360-1839A>C (n.360-1839A>C) c.99A>C c.173A>C (p.Tyr58Ser) c.23-1839A>C (n.23-1839A>C) c.1061A>C (p.Tyr354Ser) | ClinVar dbSNP |
17 | g.42541189A>G | CA290778820 | NAGLU | c.1004A>G (p.Tyr335Cys) c.360-1839A>G (n.360-1839A>G) c.99A>G c.173A>G (p.Tyr58Cys) c.23-1839A>G (n.23-1839A>G) c.1061A>G (p.Tyr354Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42541189A>T | CA399600390 | NAGLU | c.1004A>T (p.Tyr335Phe) c.360-1839A>T (n.360-1839A>T) c.99A>T c.173A>T (p.Tyr58Phe) c.23-1839A>T (n.23-1839A>T) c.1061A>T (p.Tyr354Phe) | |
17 | g.42541190T>A | CA399600392 | NAGLU | c.1005T>A (p.Tyr335Ter) c.360-1838T>A (n.360-1838T>A) c.100T>A c.174T>A (p.Tyr58Ter) c.23-1838T>A (n.23-1838T>A) c.1062T>A (p.Tyr354Ter) | |
17 | g.42541190T>C | CA8576914 | NAGLU | c.1005T>C (p.Tyr335=) c.360-1838T>C (n.360-1838T>C) c.100T>C c.174T>C (p.Tyr58=) c.23-1838T>C (n.23-1838T>C) c.1062T>C (p.Tyr354=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42541190T>G | CA399600391 | NAGLU | c.1005T>G (p.Tyr335Ter) c.360-1838T>G (n.360-1838T>G) c.100T>G c.174T>G (p.Tyr58Ter) c.23-1838T>G (n.23-1838T>G) c.1062T>G (p.Tyr354Ter) | |
17 | g.42541190T= | CA2260529204 | NAGLU | c.1005T= (p.Tyr335=) c.360-1838T= (n.360-1838T=) c.100T= c.174T= (p.Tyr58=) c.23-1838T= (n.23-1838T=) c.1062T= (p.Tyr354=) | |
17 | g.42541191G>A | CA399600393 | NAGLU | c.1006G>A (p.Glu336Lys) c.360-1837G>A (n.360-1837G>A) c.101G>A c.175G>A (p.Glu59Lys) c.23-1837G>A (n.23-1837G>A) c.1063G>A (p.Glu355Lys) | |
17 | g.42541191G>C | CA399600394 | NAGLU | c.1006G>C (p.Glu336Gln) c.360-1837G>C (n.360-1837G>C) c.101G>C c.175G>C (p.Glu59Gln) c.23-1837G>C (n.23-1837G>C) c.1063G>C (p.Glu355Gln) | |
17 | g.42541191G= | CA2260529205 | NAGLU | c.1006G= (p.Glu336=) c.360-1837G= (n.360-1837G=) c.101G= c.175G= (p.Glu59=) c.23-1837G= (n.23-1837G=) c.1063G= (p.Glu355=) | |
17 | g.42541191G>T | CA8576915 | NAGLU | c.1006G>T (p.Glu336Ter) c.360-1837G>T (n.360-1837G>T) c.101G>T c.175G>T (p.Glu59Ter) c.23-1837G>T (n.23-1837G>T) c.1063G>T (p.Glu355Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42541192A>C | CA399600395 | NAGLU | c.1007A>C (p.Glu336Ala) c.360-1836A>C (n.360-1836A>C) c.102A>C c.176A>C (p.Glu59Ala) c.23-1836A>C (n.23-1836A>C) c.1064A>C (p.Glu355Ala) | |
17 | g.42541192A>G | CA399600396 | NAGLU | c.1007A>G (p.Glu336Gly) c.360-1836A>G (n.360-1836A>G) c.102A>G c.176A>G (p.Glu59Gly) c.23-1836A>G (n.23-1836A>G) c.1064A>G (p.Glu355Gly) | |
17 | g.42541192A>T | CA399600397 | NAGLU | c.1007A>T (p.Glu336Val) c.360-1836A>T (n.360-1836A>T) c.102A>T c.176A>T (p.Glu59Val) c.23-1836A>T (n.23-1836A>T) c.1064A>T (p.Glu355Val) | |
17 | g.42541193G>A | CA500216645 | NAGLU | c.1008G>A (p.Glu336=) c.360-1835G>A (n.360-1835G>A) c.103G>A c.177G>A (p.Glu59=) c.23-1835G>A (n.23-1835G>A) c.1065G>A (p.Glu355=) | |
17 | g.42541193G>C | CA399600398 | NAGLU | c.1008G>C (p.Glu336Asp) c.360-1835G>C (n.360-1835G>C) c.103G>C c.177G>C (p.Glu59Asp) c.23-1835G>C (n.23-1835G>C) c.1065G>C (p.Glu355Asp) | |
17 | g.42541193G>T | CA399600399 | NAGLU | c.1008G>T (p.Glu336Asp) c.360-1835G>T (n.360-1835G>T) c.103G>T c.177G>T (p.Glu59Asp) c.23-1835G>T (n.23-1835G>T) c.1065G>T (p.Glu355Asp) | gnomAD v4 |
17 | g.42541194G>A | CA399600400 | NAGLU | c.1009G>A (p.Ala337Thr) c.360-1834G>A (n.360-1834G>A) c.104G>A c.178G>A (p.Ala60Thr) c.23-1834G>A (n.23-1834G>A) c.1066G>A (p.Ala356Thr) | dbSNP gnomAD v2 |
17 | g.42541194G>C | CA399600401 | NAGLU | c.1009G>C (p.Ala337Pro) c.360-1834G>C (n.360-1834G>C) c.104G>C c.178G>C (p.Ala60Pro) c.23-1834G>C (n.23-1834G>C) c.1066G>C (p.Ala356Pro) | |
17 | g.42541194G= | CA2260529206 | NAGLU | c.1009G= (p.Ala337=) c.360-1834G= (n.360-1834G=) c.104G= c.178G= (p.Ala60=) c.23-1834G= (n.23-1834G=) c.1066G= (p.Ala356=) | |
17 | g.42541194G>T | CA399600402 | NAGLU | c.1009G>T (p.Ala337Ser) c.360-1834G>T (n.360-1834G>T) c.104G>T c.178G>T (p.Ala60Ser) c.23-1834G>T (n.23-1834G>T) c.1066G>T (p.Ala356Ser) | |
17 | g.42541195C>A | CA399600405 | NAGLU | c.1010C>A (p.Ala337Asp) c.360-1833C>A (n.360-1833C>A) c.105C>A c.179C>A (p.Ala60Asp) c.23-1833C>A (n.23-1833C>A) c.1067C>A (p.Ala356Asp) | |
17 | g.42541195C>G | CA399600404 | NAGLU | c.1010C>G (p.Ala337Gly) c.360-1833C>G (n.360-1833C>G) c.105C>G c.179C>G (p.Ala60Gly) c.23-1833C>G (n.23-1833C>G) c.1067C>G (p.Ala356Gly) | |
17 | g.42541195C>T | CA399600403 | NAGLU | c.1010C>T (p.Ala337Val) c.360-1833C>T (n.360-1833C>T) c.105C>T c.179C>T (p.Ala60Val) c.23-1833C>T (n.23-1833C>T) c.1067C>T (p.Ala356Val) | gnomAD v4 |
17 | g.42541196C>A | CA500216648 | NAGLU | c.1011C>A (p.Ala337=) c.360-1832C>A (n.360-1832C>A) c.106C>A c.180C>A (p.Ala60=) c.23-1832C>A (n.23-1832C>A) c.1068C>A (p.Ala356=) | |
17 | g.42541196C>G | CA500216647 | NAGLU | c.1011C>G (p.Ala337=) c.360-1832C>G (n.360-1832C>G) c.106C>G c.180C>G (p.Ala60=) c.23-1832C>G (n.23-1832C>G) c.1068C>G (p.Ala356=) | |
17 | g.42541196C>T | CA500216649 | NAGLU | c.1011C>T (p.Ala337=) c.360-1832C>T (n.360-1832C>T) c.106C>T c.180C>T (p.Ala60=) c.23-1832C>T (n.23-1832C>T) c.1068C>T (p.Ala356=) | |
17 | g.42541197A= | CA2260529207 | NAGLU | c.1012A= (p.Met338=) c.360-1831A= (n.360-1831A=) c.107A= c.181A= (p.Met61=) c.23-1831A= (n.23-1831A=) c.1069A= (p.Met357=) | |
17 | g.42541197A>C | CA399600406 | NAGLU | c.1012A>C (p.Met338Leu) c.360-1831A>C (n.360-1831A>C) c.107A>C c.181A>C (p.Met61Leu) c.23-1831A>C (n.23-1831A>C) c.1069A>C (p.Met357Leu) | |
17 | g.42541197A>G | CA399600407 | NAGLU | c.1012A>G (p.Met338Val) c.360-1831A>G (n.360-1831A>G) c.107A>G c.181A>G (p.Met61Val) c.23-1831A>G (n.23-1831A>G) c.1069A>G (p.Met357Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42541197A>T | CA399600408 | NAGLU | c.1012A>T (p.Met338Leu) c.360-1831A>T (n.360-1831A>T) c.107A>T c.181A>T (p.Met61Leu) c.23-1831A>T (n.23-1831A>T) c.1069A>T (p.Met357Leu) | |
17 | g.42541198T>A | CA399600409 | NAGLU | c.1013T>A (p.Met338Lys) c.360-1830T>A (n.360-1830T>A) c.108T>A c.182T>A (p.Met61Lys) c.23-1830T>A (n.23-1830T>A) c.1070T>A (p.Met357Lys) | |
17 | g.42541198T>C | CA399600410 | NAGLU | c.1013T>C (p.Met338Thr) c.360-1830T>C (n.360-1830T>C) c.108T>C c.182T>C (p.Met61Thr) c.23-1830T>C (n.23-1830T>C) c.1070T>C (p.Met357Thr) | gnomAD v4 |
17 | g.42541198T>G | CA399600411 | NAGLU | c.1013T>G (p.Met338Arg) c.360-1830T>G (n.360-1830T>G) c.108T>G c.182T>G (p.Met61Arg) c.23-1830T>G (n.23-1830T>G) c.1070T>G (p.Met357Arg) | |
17 | g.42541199G>A | CA8576916 | NAGLU | c.1014G>A (p.Met338Ile) c.360-1829G>A (n.360-1829G>A) c.109G>A c.183G>A (p.Met61Ile) c.23-1829G>A (n.23-1829G>A) c.1071G>A (p.Met357Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42541199G>C | CA399600412 | NAGLU | c.1014G>C (p.Met338Ile) c.360-1829G>C (n.360-1829G>C) c.109G>C c.183G>C (p.Met61Ile) c.23-1829G>C (n.23-1829G>C) c.1071G>C (p.Met357Ile) | |
17 | g.42541199G= | CA2260529208 | NAGLU | c.1014G= (p.Met338=) c.360-1829G= (n.360-1829G=) c.109G= c.183G= (p.Met61=) c.23-1829G= (n.23-1829G=) c.1071G= (p.Met357=) | |
17 | g.42541199G>T | CA399600413 | NAGLU | c.1014G>T (p.Met338Ile) c.360-1829G>T (n.360-1829G>T) c.109G>T c.183G>T (p.Met61Ile) c.23-1829G>T (n.23-1829G>T) c.1071G>T (p.Met357Ile) | gnomAD v4 |