Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.42538297_42538300dup | CA290773039 | NAGLU | c.532-42_532-39dup (n.532-42_532-39dup) c.134-42_134-39dup c.220-42_220-39dup (n.220-42_220-39dup) c.127-42_127-39dup (n.127-42_127-39dup) c.-211-42_-211-39dup (n.-211-42_-211-39dup) c.589-42_589-39dup (n.589-42_589-39dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538293_42538300dup | CA2594069905 | NAGLU | c.532-46_532-39dup (n.532-46_532-39dup) c.134-46_134-39dup c.220-46_220-39dup (n.220-46_220-39dup) c.127-46_127-39dup (n.127-46_127-39dup) c.-211-46_-211-39dup (n.-211-46_-211-39dup) c.589-46_589-39dup (n.589-46_589-39dup) | gnomAD v3 gnomAD v4 |
17 | g.42538297_42538300del | CA290773025 | NAGLU | c.532-42_532-39del (n.532-42_532-39del) c.134-42_134-39del c.220-42_220-39del (n.220-42_220-39del) c.127-42_127-39del (n.127-42_127-39del) c.-211-42_-211-39del (n.-211-42_-211-39del) c.589-42_589-39del (n.589-42_589-39del) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42538293_42538300del | CA626055867 | NAGLU | c.532-46_532-39del (n.532-46_532-39del) c.134-46_134-39del c.220-46_220-39del (n.220-46_220-39del) c.127-46_127-39del (n.127-46_127-39del) c.-211-46_-211-39del (n.-211-46_-211-39del) c.589-46_589-39del (n.589-46_589-39del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538289_42538300del | CA983828910 | NAGLU | c.532-50_532-39del (n.532-50_532-39del) c.134-50_134-39del c.220-50_220-39del (n.220-50_220-39del) c.127-50_127-39del (n.127-50_127-39del) c.-211-50_-211-39del (n.-211-50_-211-39del) c.589-50_589-39del (n.589-50_589-39del) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42538294G>A | CA2576295369 | NAGLU | c.532-45G>A (n.532-45G>A) c.134-45G>A c.220-45G>A (n.220-45G>A) c.127-45G>A (n.127-45G>A) c.-211-45G>A (n.-211-45G>A) c.589-45G>A (n.589-45G>A) | gnomAD v4 |
17 | g.42538294G>T | CA2637969847 | NAGLU | c.532-45G>T (n.532-45G>T) c.134-45G>T c.220-45G>T (n.220-45G>T) c.127-45G>T (n.127-45G>T) c.-211-45G>T (n.-211-45G>T) c.589-45G>T (n.589-45G>T) | gnomAD v4 |
17 | g.42538295A= | CA2260527789 | NAGLU | c.532-44A= (n.532-44A=) c.134-44A= c.220-44A= (n.220-44A=) c.127-44A= (n.127-44A=) c.-211-44A= (n.-211-44A=) c.589-44A= (n.589-44A=) | |
17 | g.42538296A= | CA2260527790 | NAGLU | c.532-43A= (n.532-43A=) c.134-43A= c.220-43A= (n.220-43A=) c.127-43A= (n.127-43A=) c.-211-43A= (n.-211-43A=) c.589-43A= (n.589-43A=) | |
17 | g.42538296A>T | CA8576785 | NAGLU | c.532-43A>T (n.532-43A>T) c.134-43A>T c.220-43A>T (n.220-43A>T) c.127-43A>T (n.127-43A>T) c.-211-43A>T (n.-211-43A>T) c.589-43A>T (n.589-43A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42538297_42538299dup | CA919842899 | NAGLU | c.532-42_532-40dup (n.532-42_532-40dup) c.134-42_134-40dup c.220-42_220-40dup (n.220-42_220-40dup) c.127-42_127-40dup (n.127-42_127-40dup) c.-211-42_-211-40dup (n.-211-42_-211-40dup) c.589-42_589-40dup (n.589-42_589-40dup) | dbSNP |
17 | g.42538300A= | CA2260527791 | NAGLU | c.532-39A= (n.532-39A=) c.134-39A= c.220-39A= (n.220-39A=) c.127-39A= (n.127-39A=) c.-211-39A= (n.-211-39A=) c.589-39A= (n.589-39A=) | |
17 | g.42538300A>C | CA8576786 | NAGLU | c.532-39A>C (n.532-39A>C) c.134-39A>C c.220-39A>C (n.220-39A>C) c.127-39A>C (n.127-39A>C) c.-211-39A>C (n.-211-39A>C) c.589-39A>C (n.589-39A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538301G>A | CA2637969848 | NAGLU | c.532-38G>A (n.532-38G>A) c.134-38G>A c.220-38G>A (n.220-38G>A) c.127-38G>A (n.127-38G>A) c.-211-38G>A (n.-211-38G>A) c.589-38G>A (n.589-38G>A) | gnomAD v4 |
17 | g.42538302A>T | CA2576295370 | NAGLU | c.532-37A>T (n.532-37A>T) c.134-37A>T c.220-37A>T (n.220-37A>T) c.127-37A>T (n.127-37A>T) c.-211-37A>T (n.-211-37A>T) c.589-37A>T (n.589-37A>T) | |
17 | g.42538303T>C | CA2576295371 | NAGLU | c.532-36T>C (n.532-36T>C) c.134-36T>C c.220-36T>C (n.220-36T>C) c.127-36T>C (n.127-36T>C) c.-211-36T>C (n.-211-36T>C) c.589-36T>C (n.589-36T>C) | |
17 | g.42538304G= | CA2260527792 | NAGLU | c.532-35G= (n.532-35G=) c.134-35G= c.220-35G= (n.220-35G=) c.127-35G= (n.127-35G=) c.-211-35G= (n.-211-35G=) c.589-35G= (n.589-35G=) | |
17 | g.42538304G>T | CA626055873 | NAGLU | c.532-35G>T (n.532-35G>T) c.134-35G>T c.220-35G>T (n.220-35G>T) c.127-35G>T (n.127-35G>T) c.-211-35G>T (n.-211-35G>T) c.589-35G>T (n.589-35G>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42538306A= | CA2260527793 | NAGLU | c.532-33A= (n.532-33A=) c.134-33A= c.220-33A= (n.220-33A=) c.127-33A= (n.127-33A=) c.-211-33A= (n.-211-33A=) c.589-33A= (n.589-33A=) | |
17 | g.42538306A>G | CA626055874 | NAGLU | c.532-33A>G (n.532-33A>G) c.134-33A>G c.220-33A>G (n.220-33A>G) c.127-33A>G (n.127-33A>G) c.-211-33A>G (n.-211-33A>G) c.589-33A>G (n.589-33A>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42538307T>C | CA2637969849 | NAGLU | c.532-32T>C (n.532-32T>C) c.134-32T>C c.220-32T>C (n.220-32T>C) c.127-32T>C (n.127-32T>C) c.-211-32T>C (n.-211-32T>C) c.589-32T>C (n.589-32T>C) | gnomAD v4 |
17 | g.42538308A= | CA2260527794 | NAGLU | c.532-31A= (n.532-31A=) c.134-31A= c.220-31A= (n.220-31A=) c.127-31A= (n.127-31A=) c.-211-31A= (n.-211-31A=) c.589-31A= (n.589-31A=) | |
17 | g.42538308A>G | CA2260527795 | NAGLU | c.532-31A>G (n.532-31A>G) c.134-31A>G c.220-31A>G (n.220-31A>G) c.127-31A>G (n.127-31A>G) c.-211-31A>G (n.-211-31A>G) c.589-31A>G (n.589-31A>G) | dbSNP gnomAD v4 |
17 | g.42538309T>C | CA2637969850 | NAGLU | c.532-30T>C (n.532-30T>C) c.134-30T>C c.220-30T>C (n.220-30T>C) c.127-30T>C (n.127-30T>C) c.-211-30T>C (n.-211-30T>C) c.589-30T>C (n.589-30T>C) | gnomAD v4 |
17 | g.42538310A>G | CA2637969851 | NAGLU | c.532-29A>G (n.532-29A>G) c.134-29A>G c.220-29A>G (n.220-29A>G) c.127-29A>G (n.127-29A>G) c.-211-29A>G (n.-211-29A>G) c.589-29A>G (n.589-29A>G) | dbSNP gnomAD v4 |
17 | g.42538313T>C | CA8576787 | NAGLU | c.532-26T>C (n.532-26T>C) c.134-26T>C c.220-26T>C (n.220-26T>C) c.127-26T>C (n.127-26T>C) c.-211-26T>C (n.-211-26T>C) c.589-26T>C (n.589-26T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538313T= | CA2260527796 | NAGLU | c.532-26T= (n.532-26T=) c.134-26T= c.220-26T= (n.220-26T=) c.127-26T= (n.127-26T=) c.-211-26T= (n.-211-26T=) c.589-26T= (n.589-26T=) | |
17 | g.42538314C= | CA2260527797 | NAGLU | c.532-25C= (n.532-25C=) c.134-25C= c.220-25C= (n.220-25C=) c.127-25C= (n.127-25C=) c.-211-25C= (n.-211-25C=) c.589-25C= (n.589-25C=) | |
17 | g.42538314C>G | CA8576788 | NAGLU | c.532-25C>G (n.532-25C>G) c.134-25C>G c.220-25C>G (n.220-25C>G) c.127-25C>G (n.127-25C>G) c.-211-25C>G (n.-211-25C>G) c.589-25C>G (n.589-25C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538314C>T | CA2637969852 | NAGLU | c.532-25C>T (n.532-25C>T) c.134-25C>T c.220-25C>T (n.220-25C>T) c.127-25C>T (n.127-25C>T) c.-211-25C>T (n.-211-25C>T) c.589-25C>T (n.589-25C>T) | gnomAD v4 |
17 | g.42538316A= | CA2260527798 | NAGLU | c.532-23A= (n.532-23A=) c.134-23A= c.220-23A= (n.220-23A=) c.127-23A= (n.127-23A=) c.-211-23A= (n.-211-23A=) c.589-23A= (n.589-23A=) | |
17 | g.42538316A>G | CA8576789 | NAGLU | c.532-23A>G (n.532-23A>G) c.134-23A>G c.220-23A>G (n.220-23A>G) c.127-23A>G (n.127-23A>G) c.-211-23A>G (n.-211-23A>G) c.589-23A>G (n.589-23A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538317T>C | CA983828922 | NAGLU | c.532-22T>C (n.532-22T>C) c.134-22T>C c.220-22T>C (n.220-22T>C) c.127-22T>C (n.127-22T>C) c.-211-22T>C (n.-211-22T>C) c.589-22T>C (n.589-22T>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42538317T= | CA2260527799 | NAGLU | c.532-22T= (n.532-22T=) c.134-22T= c.220-22T= (n.220-22T=) c.127-22T= (n.127-22T=) c.-211-22T= (n.-211-22T=) c.589-22T= (n.589-22T=) | |
17 | g.42538318G>A | CA290773072 | NAGLU | c.532-21G>A (n.532-21G>A) c.134-21G>A c.220-21G>A (n.220-21G>A) c.127-21G>A (n.127-21G>A) c.-211-21G>A (n.-211-21G>A) c.589-21G>A (n.589-21G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538318G= | CA2260527800 | NAGLU | c.532-21G= (n.532-21G=) c.134-21G= c.220-21G= (n.220-21G=) c.127-21G= (n.127-21G=) c.-211-21G= (n.-211-21G=) c.589-21G= (n.589-21G=) | |
17 | g.42538319del | CA2637969853 | NAGLU | c.532-20del (n.532-20del) c.134-20del c.220-20del (n.220-20del) c.127-20del (n.127-20del) c.-211-20del (n.-211-20del) c.589-20del (n.589-20del) | gnomAD v4 |
17 | g.42538319T>C | CA2260527802 | NAGLU | c.532-20T>C (n.532-20T>C) c.134-20T>C c.220-20T>C (n.220-20T>C) c.127-20T>C (n.127-20T>C) c.-211-20T>C (n.-211-20T>C) c.589-20T>C (n.589-20T>C) | dbSNP |
17 | g.42538319T>G | CA2637969854 | NAGLU | c.532-20T>G (n.532-20T>G) c.134-20T>G c.220-20T>G (n.220-20T>G) c.127-20T>G (n.127-20T>G) c.-211-20T>G (n.-211-20T>G) c.589-20T>G (n.589-20T>G) | gnomAD v4 |
17 | g.42538319T= | CA2260527801 | NAGLU | c.532-20T= (n.532-20T=) c.134-20T= c.220-20T= (n.220-20T=) c.127-20T= (n.127-20T=) c.-211-20T= (n.-211-20T=) c.589-20T= (n.589-20T=) | |
17 | g.42538320G>A | CA2260527804 | NAGLU | c.532-19G>A (n.532-19G>A) c.134-19G>A c.220-19G>A (n.220-19G>A) c.127-19G>A (n.127-19G>A) c.-211-19G>A (n.-211-19G>A) c.589-19G>A (n.589-19G>A) | dbSNP |
17 | g.42538320G= | CA2260527803 | NAGLU | c.532-19G= (n.532-19G=) c.134-19G= c.220-19G= (n.220-19G=) c.127-19G= (n.127-19G=) c.-211-19G= (n.-211-19G=) c.589-19G= (n.589-19G=) | |
17 | g.42538320G>T | CA2740095363 | NAGLU | c.532-19G>T (n.532-19G>T) c.134-19G>T c.220-19G>T (n.220-19G>T) c.127-19G>T (n.127-19G>T) c.-211-19G>T (n.-211-19G>T) c.589-19G>T (n.589-19G>T) | ClinVar |
17 | g.42538321T>C | CA8576790 | NAGLU | c.532-18T>C (n.532-18T>C) c.134-18T>C c.220-18T>C (n.220-18T>C) c.127-18T>C (n.127-18T>C) c.-211-18T>C (n.-211-18T>C) c.589-18T>C (n.589-18T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538321T= | CA2260527805 | NAGLU | c.532-18T= (n.532-18T=) c.134-18T= c.220-18T= (n.220-18T=) c.127-18T= (n.127-18T=) c.-211-18T= (n.-211-18T=) c.589-18T= (n.589-18T=) | |
17 | g.42538322G>A | CA2809524877 | NAGLU | c.532-17G>A (n.532-17G>A) c.134-17G>A c.220-17G>A (n.220-17G>A) c.127-17G>A (n.127-17G>A) c.-211-17G>A (n.-211-17G>A) c.589-17G>A (n.589-17G>A) | |
17 | g.42538322G>T | CA2637969855 | NAGLU | c.532-17G>T (n.532-17G>T) c.134-17G>T c.220-17G>T (n.220-17G>T) c.127-17G>T (n.127-17G>T) c.-211-17G>T (n.-211-17G>T) c.589-17G>T (n.589-17G>T) | gnomAD v4 |
17 | g.42538324G>C | CA2741536699 | NAGLU | c.532-15G>C (n.532-15G>C) c.134-15G>C c.220-15G>C (n.220-15G>C) c.127-15G>C (n.127-15G>C) c.-211-15G>C (n.-211-15G>C) c.589-15G>C (n.589-15G>C) | |
17 | g.42538325C>A | CA2260527807 | NAGLU | c.532-14C>A (n.532-14C>A) c.134-14C>A c.220-14C>A (n.220-14C>A) c.127-14C>A (n.127-14C>A) c.-211-14C>A (n.-211-14C>A) c.589-14C>A (n.589-14C>A) | dbSNP |
17 | g.42538325C= | CA2260527806 | NAGLU | c.532-14C= (n.532-14C=) c.134-14C= c.220-14C= (n.220-14C=) c.127-14C= (n.127-14C=) c.-211-14C= (n.-211-14C=) c.589-14C= (n.589-14C=) | |
17 | g.42538325C>T | CA2637969856 | NAGLU | c.532-14C>T (n.532-14C>T) c.134-14C>T c.220-14C>T (n.220-14C>T) c.127-14C>T (n.127-14C>T) c.-211-14C>T (n.-211-14C>T) c.589-14C>T (n.589-14C>T) | ClinVar gnomAD v4 |
17 | g.42538326C= | CA2260527808 | NAGLU | c.532-13C= (n.532-13C=) c.134-13C= c.220-13C= (n.220-13C=) c.127-13C= (n.127-13C=) c.-211-13C= (n.-211-13C=) c.589-13C= (n.589-13C=) | |
17 | g.42538326C>T | CA8576791 | NAGLU | c.532-13C>T (n.532-13C>T) c.134-13C>T c.220-13C>T (n.220-13C>T) c.127-13C>T (n.127-13C>T) c.-211-13C>T (n.-211-13C>T) c.589-13C>T (n.589-13C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42538327C>G | CA2637969858 | NAGLU | c.532-12C>G (n.532-12C>G) c.134-12C>G c.220-12C>G (n.220-12C>G) c.127-12C>G (n.127-12C>G) c.-211-12C>G (n.-211-12C>G) c.589-12C>G (n.589-12C>G) | gnomAD v4 |
17 | g.42538327C>T | CA2637969857 | NAGLU | c.532-12C>T (n.532-12C>T) c.134-12C>T c.220-12C>T (n.220-12C>T) c.127-12C>T (n.127-12C>T) c.-211-12C>T (n.-211-12C>T) c.589-12C>T (n.589-12C>T) | gnomAD v4 |
17 | g.42538328T>C | CA772111016 | NAGLU | c.532-11T>C (n.532-11T>C) c.134-11T>C c.220-11T>C (n.220-11T>C) c.127-11T>C (n.127-11T>C) c.-211-11T>C (n.-211-11T>C) c.589-11T>C (n.589-11T>C) | ClinVar dbSNP gnomAD v4 |
17 | g.42538328T>G | CA290773081 | NAGLU | c.532-11T>G (n.532-11T>G) c.134-11T>G c.220-11T>G (n.220-11T>G) c.127-11T>G (n.127-11T>G) c.-211-11T>G (n.-211-11T>G) c.589-11T>G (n.589-11T>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42538328T= | CA2260527809 | NAGLU | c.532-11T= (n.532-11T=) c.134-11T= c.220-11T= (n.220-11T=) c.127-11T= (n.127-11T=) c.-211-11T= (n.-211-11T=) c.589-11T= (n.589-11T=) | |
17 | g.42538330C= | CA2260527810 | NAGLU | c.532-9C= (n.532-9C=) c.134-9C= c.220-9C= (n.220-9C=) c.127-9C= (n.127-9C=) c.-211-9C= (n.-211-9C=) c.589-9C= (n.589-9C=) | |
17 | g.42538330C>T | CA8576792 | NAGLU | c.532-9C>T (n.532-9C>T) c.134-9C>T c.220-9C>T (n.220-9C>T) c.127-9C>T (n.127-9C>T) c.-211-9C>T (n.-211-9C>T) c.589-9C>T (n.589-9C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42538331T>C | CA2260527811 | NAGLU | c.532-8T>C (n.532-8T>C) c.134-8T>C c.220-8T>C (n.220-8T>C) c.127-8T>C (n.127-8T>C) c.-211-8T>C (n.-211-8T>C) c.589-8T>C (n.589-8T>C) | dbSNP |
17 | g.42538331T= | CA2260527812 | NAGLU | c.532-8T= (n.532-8T=) c.134-8T= c.220-8T= (n.220-8T=) c.127-8T= (n.127-8T=) c.-211-8T= (n.-211-8T=) c.589-8T= (n.589-8T=) | |
17 | g.42538333C>T | CA2637969859 | NAGLU | c.532-6C>T (n.532-6C>T) c.134-6C>T c.220-6C>T (n.220-6C>T) c.127-6C>T (n.127-6C>T) c.-211-6C>T (n.-211-6C>T) c.589-6C>T (n.589-6C>T) | ClinVar gnomAD v4 |
17 | g.42538334C>G | CA2637969860 | NAGLU | c.532-5C>G (n.532-5C>G) c.134-5C>G c.220-5C>G (n.220-5C>G) c.127-5C>G (n.127-5C>G) c.-211-5C>G (n.-211-5C>G) c.589-5C>G (n.589-5C>G) | gnomAD v4 |
17 | g.42538337A>C | CA399598322 | NAGLU | c.532-2A>C (n.532-2A>C) c.134-2A>C c.220-2A>C (n.220-2A>C) c.127-2A>C (n.127-2A>C) c.-211-2A>C (n.-211-2A>C) c.589-2A>C (n.589-2A>C) | |
17 | g.42538337A>G | CA399598323 | NAGLU | c.532-2A>G (n.532-2A>G) c.134-2A>G c.220-2A>G (n.220-2A>G) c.127-2A>G (n.127-2A>G) c.-211-2A>G (n.-211-2A>G) c.589-2A>G (n.589-2A>G) | |
17 | g.42538337A>T | CA399598324 | NAGLU | c.532-2A>T (n.532-2A>T) c.134-2A>T c.220-2A>T (n.220-2A>T) c.127-2A>T (n.127-2A>T) c.-211-2A>T (n.-211-2A>T) c.589-2A>T (n.589-2A>T) | |
17 | g.42538338G>A | CA399598325 | NAGLU | c.532-1G>A (n.532-1G>A) c.134-1G>A c.220-1G>A (n.220-1G>A) c.127-1G>A (n.127-1G>A) c.-211-1G>A (n.-211-1G>A) c.589-1G>A (n.589-1G>A) | ClinVar dbSNP |
17 | g.42538338G>C | CA399598326 | NAGLU | c.532-1G>C (n.532-1G>C) c.134-1G>C c.220-1G>C (n.220-1G>C) c.127-1G>C (n.127-1G>C) c.-211-1G>C (n.-211-1G>C) c.589-1G>C (n.589-1G>C) | ClinVar dbSNP |
17 | g.42538338G>T | CA399598327 | NAGLU | c.532-1G>T (n.532-1G>T) c.134-1G>T c.220-1G>T (n.220-1G>T) c.127-1G>T (n.127-1G>T) c.-211-1G>T (n.-211-1G>T) c.589-1G>T (n.589-1G>T) | |
17 | g.42538338_42538340delinsGGT | CA2260527813 | NAGLU | c.532-1_533delinsGGT c.134-1_135delinsGGT c.220-1_221delinsGGT c.127-1_128delinsGGT c.-211-1_-210delinsGGT c.589-1_590delinsGGT | |
17 | g.42538339G>A | CA399598329 | NAGLU | c.532G>A (p.Val178Met) c.134G>A c.220G>A (p.Val74Met) c.127G>A (p.Val43Met) c.-211G>A (n.-211G>A) c.589G>A (p.Val197Met) | |
17 | g.42538339G>C | CA399598330 | NAGLU | c.532G>C (p.Val178Leu) c.134G>C c.220G>C (p.Val74Leu) c.127G>C (p.Val43Leu) c.-211G>C (n.-211G>C) c.589G>C (p.Val197Leu) | |
17 | g.42538339G>T | CA399598328 | NAGLU | c.532G>T (p.Val178Leu) c.134G>T c.220G>T (p.Val74Leu) c.127G>T (p.Val43Leu) c.-211G>T (n.-211G>T) c.589G>T (p.Val197Leu) | |
17 | g.42538341_42538342del | CA891843806 | NAGLU | c.534_535del (p.Tyr179ProfsTer12) c.136_137del c.222_223del (p.Tyr75ProfsTer?) c.129_130del (p.Tyr44ProfsTer12) c.-209_-208del (n.-209_-208del) c.591_592del (p.Tyr198ProfsTer12) | ClinVar dbSNP |
17 | g.42538340T>A | CA399598331 | NAGLU | c.533T>A (p.Val178Glu) c.135T>A c.221T>A (p.Val74Glu) c.128T>A (p.Val43Glu) c.-210T>A (n.-210T>A) c.590T>A (p.Val197Glu) | |
17 | g.42538340T>C | CA399598332 | NAGLU | c.533T>C (p.Val178Ala) c.135T>C c.221T>C (p.Val74Ala) c.128T>C (p.Val43Ala) c.-210T>C (n.-210T>C) c.590T>C (p.Val197Ala) | |
17 | g.42538340T>G | CA399598333 | NAGLU | c.533T>G (p.Val178Gly) c.135T>G c.221T>G (p.Val74Gly) c.128T>G (p.Val43Gly) c.-210T>G (n.-210T>G) c.590T>G (p.Val197Gly) | |
17 | g.42538341G>A | CA500216273 | NAGLU | c.534G>A (p.Val178=) c.136G>A c.222G>A (p.Val74=) c.129G>A (p.Val43=) c.-209G>A (n.-209G>A) c.591G>A (p.Val197=) | |
17 | g.42538341G>C | CA500216270 | NAGLU | c.534G>C (p.Val178=) c.136G>C c.222G>C (p.Val74=) c.129G>C (p.Val43=) c.-209G>C (n.-209G>C) c.591G>C (p.Val197=) | |
17 | g.42538341G>T | CA500216271 | NAGLU | c.534G>T (p.Val178=) c.136G>T c.222G>T (p.Val74=) c.129G>T (p.Val43=) c.-209G>T (n.-209G>T) c.591G>T (p.Val197=) | |
17 | g.42538342T>A | CA399598334 | NAGLU | c.535T>A (p.Tyr179Asn) c.137T>A c.223T>A (p.Tyr75Asn) c.130T>A (p.Tyr44Asn) c.-208T>A (n.-208T>A) c.592T>A (p.Tyr198Asn) | |
17 | g.42538342T>C | CA399598335 | NAGLU | c.535T>C (p.Tyr179His) c.137T>C c.223T>C (p.Tyr75His) c.130T>C (p.Tyr44His) c.-208T>C (n.-208T>C) c.592T>C (p.Tyr198His) | |
17 | g.42538342T>G | CA399598336 | NAGLU | c.535T>G (p.Tyr179Asp) c.137T>G c.223T>G (p.Tyr75Asp) c.130T>G (p.Tyr44Asp) c.-208T>G (n.-208T>G) c.592T>G (p.Tyr198Asp) | |
17 | g.42538343A>C | CA399598339 | NAGLU | c.536A>C (p.Tyr179Ser) c.138A>C c.224A>C (p.Tyr75Ser) c.131A>C (p.Tyr44Ser) c.-207A>C (n.-207A>C) c.593A>C (p.Tyr198Ser) | |
17 | g.42538343A>G | CA399598337 | NAGLU | c.536A>G (p.Tyr179Cys) c.138A>G c.224A>G (p.Tyr75Cys) c.131A>G (p.Tyr44Cys) c.-207A>G (n.-207A>G) c.593A>G (p.Tyr198Cys) | |
17 | g.42538343A>T | CA399598338 | NAGLU | c.536A>T (p.Tyr179Phe) c.138A>T c.224A>T (p.Tyr75Phe) c.131A>T (p.Tyr44Phe) c.-207A>T (n.-207A>T) c.593A>T (p.Tyr198Phe) | |
17 | g.42538344C>A | CA399598340 | NAGLU | c.537C>A (p.Tyr179Ter) c.139C>A c.225C>A (p.Tyr75Ter) c.132C>A (p.Tyr44Ter) c.-206C>A (n.-206C>A) c.594C>A (p.Tyr198Ter) | |
17 | g.42538344C= | CA2260527814 | NAGLU | c.537C= (p.Tyr179=) c.139C= c.225C= (p.Tyr75=) c.132C= (p.Tyr44=) c.-206C= (n.-206C=) c.594C= (p.Tyr198=) | |
17 | g.42538344C>G | CA399598341 | NAGLU | c.537C>G (p.Tyr179Ter) c.139C>G c.225C>G (p.Tyr75Ter) c.132C>G (p.Tyr44Ter) c.-206C>G (n.-206C>G) c.594C>G (p.Tyr198Ter) | |
17 | g.42538344C>T | CA8576793 | NAGLU | c.537C>T (p.Tyr179=) c.139C>T c.225C>T (p.Tyr75=) c.132C>T (p.Tyr44=) c.-206C>T (n.-206C>T) c.594C>T (p.Tyr198=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42538345C>A | CA399598342 | NAGLU | c.538C>A (p.Leu180Met) c.140C>A c.226C>A (p.Leu76Met) c.133C>A (p.Leu45Met) c.-205C>A (n.-205C>A) c.595C>A (p.Leu199Met) | |
17 | g.42538345C>G | CA399598343 | NAGLU | c.538C>G (p.Leu180Val) c.140C>G c.226C>G (p.Leu76Val) c.133C>G (p.Leu45Val) c.-205C>G (n.-205C>G) c.595C>G (p.Leu199Val) | |
17 | g.42538345C>T | CA500216279 | NAGLU | c.538C>T (p.Leu180=) c.140C>T c.226C>T (p.Leu76=) c.133C>T (p.Leu45=) c.-205C>T (n.-205C>T) c.595C>T (p.Leu199=) | |
17 | g.42538346T>A | CA399598344 | NAGLU | c.539T>A (p.Leu180Gln) c.141T>A c.227T>A (p.Leu76Gln) c.134T>A (p.Leu45Gln) c.-204T>A (n.-204T>A) c.596T>A (p.Leu199Gln) | |
17 | g.42538346T>C | CA399598346 | NAGLU | c.539T>C (p.Leu180Pro) c.141T>C c.227T>C (p.Leu76Pro) c.134T>C (p.Leu45Pro) c.-204T>C (n.-204T>C) c.596T>C (p.Leu199Pro) | |
17 | g.42538346T>G | CA399598345 | NAGLU | c.539T>G (p.Leu180Arg) c.141T>G c.227T>G (p.Leu76Arg) c.134T>G (p.Leu45Arg) c.-204T>G (n.-204T>G) c.596T>G (p.Leu199Arg) | |
17 | g.42538347G>A | CA290773087 | NAGLU | c.540G>A (p.Leu180=) c.142G>A c.228G>A (p.Leu76=) c.135G>A (p.Leu45=) c.-203G>A (n.-203G>A) c.597G>A (p.Leu199=) | dbSNP |
17 | g.42538347G>C | CA500216286 | NAGLU | c.540G>C (p.Leu180=) c.142G>C c.228G>C (p.Leu76=) c.135G>C (p.Leu45=) c.-203G>C (n.-203G>C) c.597G>C (p.Leu199=) | |
17 | g.42538347G= | CA2260527815 | NAGLU | c.540G= (p.Leu180=) c.142G= c.228G= (p.Leu76=) c.135G= (p.Leu45=) c.-203G= (n.-203G=) c.597G= (p.Leu199=) | |
17 | g.42538347G>T | CA500216285 | NAGLU | c.540G>T (p.Leu180=) c.142G>T c.228G>T (p.Leu76=) c.135G>T (p.Leu45=) c.-203G>T (n.-203G>T) c.597G>T (p.Leu199=) | |
17 | g.42538348G>A | CA399598347 | NAGLU | c.541G>A (p.Ala181Thr) c.143G>A c.229G>A (p.Ala77Thr) c.136G>A (p.Ala46Thr) c.-202G>A (n.-202G>A) c.598G>A (p.Ala200Thr) | |
17 | g.42538348G>C | CA399598348 | NAGLU | c.541G>C (p.Ala181Pro) c.143G>C c.229G>C (p.Ala77Pro) c.136G>C (p.Ala46Pro) c.-202G>C (n.-202G>C) c.598G>C (p.Ala200Pro) | |
17 | g.42538348G>T | CA399598349 | NAGLU | c.541G>T (p.Ala181Ser) c.143G>T c.229G>T (p.Ala77Ser) c.136G>T (p.Ala46Ser) c.-202G>T (n.-202G>T) c.598G>T (p.Ala200Ser) | ClinVar |
17 | g.42538349C>A | CA8576794 | NAGLU | c.542C>A (p.Ala181Asp) c.144C>A c.230C>A (p.Ala77Asp) c.137C>A (p.Ala46Asp) c.-201C>A (n.-201C>A) c.599C>A (p.Ala200Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538349C= | CA2260527816 | NAGLU | c.542C= (p.Ala181=) c.144C= c.230C= (p.Ala77=) c.137C= (p.Ala46=) c.-201C= (n.-201C=) c.599C= (p.Ala200=) | |
17 | g.42538349C>G | CA399598350 | NAGLU | c.542C>G (p.Ala181Gly) c.144C>G c.230C>G (p.Ala77Gly) c.137C>G (p.Ala46Gly) c.-201C>G (n.-201C>G) c.599C>G (p.Ala200Gly) | |
17 | g.42538349C>T | CA399598351 | NAGLU | c.542C>T (p.Ala181Val) c.144C>T c.230C>T (p.Ala77Val) c.137C>T (p.Ala46Val) c.-201C>T (n.-201C>T) c.599C>T (p.Ala200Val) | gnomAD v4 |
17 | g.42538350C>A | CA500216291 | NAGLU | c.543C>A (p.Ala181=) c.145C>A c.231C>A (p.Ala77=) c.138C>A (p.Ala46=) c.-200C>A (n.-200C>A) c.600C>A (p.Ala200=) | |
17 | g.42538350C>G | CA500216290 | NAGLU | c.543C>G (p.Ala181=) c.145C>G c.231C>G (p.Ala77=) c.138C>G (p.Ala46=) c.-200C>G (n.-200C>G) c.600C>G (p.Ala200=) | ClinVar |
17 | g.42538350C>T | CA500216288 | NAGLU | c.543C>T (p.Ala181=) c.145C>T c.231C>T (p.Ala77=) c.138C>T (p.Ala46=) c.-200C>T (n.-200C>T) c.600C>T (p.Ala200=) | ClinVar dbSNP |
17 | g.42538351T>A | CA399598352 | NAGLU | c.544T>A (p.Leu182Met) c.146T>A c.232T>A (p.Leu78Met) c.139T>A (p.Leu47Met) c.-199T>A (n.-199T>A) c.601T>A (p.Leu201Met) | |
17 | g.42538351T>C | CA500216292 | NAGLU | c.544T>C (p.Leu182=) c.146T>C c.232T>C (p.Leu78=) c.139T>C (p.Leu47=) c.-199T>C (n.-199T>C) c.601T>C (p.Leu201=) | |
17 | g.42538351T>G | CA399598353 | NAGLU | c.544T>G (p.Leu182Val) c.146T>G c.232T>G (p.Leu78Val) c.139T>G (p.Leu47Val) c.-199T>G (n.-199T>G) c.601T>G (p.Leu201Val) | |
17 | g.42538352T>A | CA399598354 | NAGLU | c.545T>A (p.Leu182Ter) c.147T>A c.233T>A (p.Leu78Ter) c.140T>A (p.Leu47Ter) c.-198T>A (n.-198T>A) c.602T>A (p.Leu201Ter) | |
17 | g.42538352T>C | CA399598355 | NAGLU | c.545T>C (p.Leu182Ser) c.147T>C c.233T>C (p.Leu78Ser) c.140T>C (p.Leu47Ser) c.-198T>C (n.-198T>C) c.602T>C (p.Leu201Ser) | |
17 | g.42538352T>G | CA399598356 | NAGLU | c.545T>G (p.Leu182Trp) c.147T>G c.233T>G (p.Leu78Trp) c.140T>G (p.Leu47Trp) c.-198T>G (n.-198T>G) c.602T>G (p.Leu201Trp) | |
17 | g.42538353G>A | CA500216293 | NAGLU | c.546G>A (p.Leu182=) c.148G>A c.234G>A (p.Leu78=) c.141G>A (p.Leu47=) c.-197G>A (n.-197G>A) c.603G>A (p.Leu201=) | |
17 | g.42538353G>C | CA399598358 | NAGLU | c.546G>C (p.Leu182Phe) c.148G>C c.234G>C (p.Leu78Phe) c.141G>C (p.Leu47Phe) c.-197G>C (n.-197G>C) c.603G>C (p.Leu201Phe) | ClinVar |
17 | g.42538353G>T | CA399598357 | NAGLU | c.546G>T (p.Leu182Phe) c.148G>T c.234G>T (p.Leu78Phe) c.141G>T (p.Leu47Phe) c.-197G>T (n.-197G>T) c.603G>T (p.Leu201Phe) | |
17 | g.42538354G>A | CA399598359 | NAGLU | c.547G>A (p.Gly183Ser) c.149G>A c.235G>A (p.Gly79Ser) c.142G>A (p.Gly48Ser) c.-196G>A (n.-196G>A) c.604G>A (p.Gly202Ser) | |
17 | g.42538354G>C | CA290773098 | NAGLU | c.547G>C (p.Gly183Arg) c.149G>C c.235G>C (p.Gly79Arg) c.142G>C (p.Gly48Arg) c.-196G>C (n.-196G>C) c.604G>C (p.Gly202Arg) | ClinVar dbSNP |
17 | g.42538354G= | CA2260527817 | NAGLU | c.547G= (p.Gly183=) c.149G= c.235G= (p.Gly79=) c.142G= (p.Gly48=) c.-196G= (n.-196G=) c.604G= (p.Gly202=) | |
17 | g.42538354G>T | CA399598360 | NAGLU | c.547G>T (p.Gly183Cys) c.149G>T c.235G>T (p.Gly79Cys) c.142G>T (p.Gly48Cys) c.-196G>T (n.-196G>T) c.604G>T (p.Gly202Cys) | |
17 | g.42538355G>A | CA399598361 | NAGLU | c.548G>A (p.Gly183Asp) c.150G>A c.236G>A (p.Gly79Asp) c.143G>A (p.Gly48Asp) c.-195G>A (n.-195G>A) c.605G>A (p.Gly202Asp) | |
17 | g.42538355G>C | CA8576795 | NAGLU | c.548G>C (p.Gly183Ala) c.150G>C c.236G>C (p.Gly79Ala) c.143G>C (p.Gly48Ala) c.-195G>C (n.-195G>C) c.605G>C (p.Gly202Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538355G= | CA2260527818 | NAGLU | c.548G= (p.Gly183=) c.150G= c.236G= (p.Gly79=) c.143G= (p.Gly48=) c.-195G= (n.-195G=) c.605G= (p.Gly202=) | |
17 | g.42538355G>T | CA399598362 | NAGLU | c.548G>T (p.Gly183Val) c.150G>T c.236G>T (p.Gly79Val) c.143G>T (p.Gly48Val) c.-195G>T (n.-195G>T) c.605G>T (p.Gly202Val) | |
17 | g.42538356C>A | CA500216299 | NAGLU | c.549C>A (p.Gly183=) c.151C>A c.237C>A (p.Gly79=) c.144C>A (p.Gly48=) c.-194C>A (n.-194C>A) c.606C>A (p.Gly202=) | |
17 | g.42538356C= | CA2260527819 | NAGLU | c.549C= (p.Gly183=) c.151C= c.237C= (p.Gly79=) c.144C= (p.Gly48=) c.-194C= (n.-194C=) c.606C= (p.Gly202=) | |
17 | g.42538356C>G | CA500216298 | NAGLU | c.549C>G (p.Gly183=) c.151C>G c.237C>G (p.Gly79=) c.144C>G (p.Gly48=) c.-194C>G (n.-194C>G) c.606C>G (p.Gly202=) | ClinVar gnomAD v4 |
17 | g.42538356C>T | CA500216300 | NAGLU | c.549C>T (p.Gly183=) c.151C>T c.237C>T (p.Gly79=) c.144C>T (p.Gly48=) c.-194C>T (n.-194C>T) c.606C>T (p.Gly202=) | ClinVar gnomAD v4 |
17 | g.42538357C>A | CA399598363 | NAGLU | c.550C>A (p.Leu184Met) c.152C>A c.238C>A (p.Leu80Met) c.145C>A (p.Leu49Met) c.-193C>A (n.-193C>A) c.607C>A (p.Leu203Met) | |
17 | g.42538357C>G | CA399598364 | NAGLU | c.550C>G (p.Leu184Val) c.152C>G c.238C>G (p.Leu80Val) c.145C>G (p.Leu49Val) c.-193C>G (n.-193C>G) c.607C>G (p.Leu203Val) | |
17 | g.42538357C>T | CA500216302 | NAGLU | c.550C>T (p.Leu184=) c.152C>T c.238C>T (p.Leu80=) c.145C>T (p.Leu49=) c.-193C>T (n.-193C>T) c.607C>T (p.Leu203=) | |
17 | g.42538359_42538360insCCTGATCTCTG | CA626218552 | NAGLU | c.552_553insCCTGATCTCTG (p.Thr185ProfsTer4) c.154_155insCCTGATCTCTG c.240_241insCCTGATCTCTG (p.Thr81ProfsTer4) c.147_148insCCTGATCTCTG (p.Thr50ProfsTer4) c.-191_-190insCCTGATCTCTG (n.-191_-190insCCTGATCTCTG) c.609_610insCCTGATCTCTG (p.Thr204ProfsTer4) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42538358T>A | CA399598365 | NAGLU | c.551T>A (p.Leu184Gln) c.153T>A c.239T>A (p.Leu80Gln) c.146T>A (p.Leu49Gln) c.-192T>A (n.-192T>A) c.608T>A (p.Leu203Gln) | |
17 | g.42538358T>C | CA399598366 | NAGLU | c.551T>C (p.Leu184Pro) c.153T>C c.239T>C (p.Leu80Pro) c.146T>C (p.Leu49Pro) c.-192T>C (n.-192T>C) c.608T>C (p.Leu203Pro) | |
17 | g.42538358T>G | CA399598367 | NAGLU | c.551T>G (p.Leu184Arg) c.153T>G c.239T>G (p.Leu80Arg) c.146T>G (p.Leu49Arg) c.-192T>G (n.-192T>G) c.608T>G (p.Leu203Arg) | |
17 | g.42538359G>A | CA500216306 | NAGLU | c.552G>A (p.Leu184=) c.154G>A c.240G>A (p.Leu80=) c.147G>A (p.Leu49=) c.-191G>A (n.-191G>A) c.609G>A (p.Leu203=) | |
17 | g.42538359G>C | CA500216307 | NAGLU | c.552G>C (p.Leu184=) c.154G>C c.240G>C (p.Leu80=) c.147G>C (p.Leu49=) c.-191G>C (n.-191G>C) c.609G>C (p.Leu203=) | COSMIC |
17 | g.42538359G>T | CA500216308 | NAGLU | c.552G>T (p.Leu184=) c.154G>T c.240G>T (p.Leu80=) c.147G>T (p.Leu49=) c.-191G>T (n.-191G>T) c.609G>T (p.Leu203=) | |
17 | g.42538360A>C | CA399598368 | NAGLU | c.553A>C (p.Thr185Pro) c.155A>C c.241A>C (p.Thr81Pro) c.148A>C (p.Thr50Pro) c.-190A>C (n.-190A>C) c.610A>C (p.Thr204Pro) | |
17 | g.42538360A>G | CA399598369 | NAGLU | c.553A>G (p.Thr185Ala) c.155A>G c.241A>G (p.Thr81Ala) c.148A>G (p.Thr50Ala) c.-190A>G (n.-190A>G) c.610A>G (p.Thr204Ala) | |
17 | g.42538360A>T | CA399598370 | NAGLU | c.553A>T (p.Thr185Ser) c.155A>T c.241A>T (p.Thr81Ser) c.148A>T (p.Thr50Ser) c.-190A>T (n.-190A>T) c.610A>T (p.Thr204Ser) | |
17 | g.42538361C>A | CA399598373 | NAGLU | c.554C>A (p.Thr185Asn) c.156C>A c.242C>A (p.Thr81Asn) c.149C>A (p.Thr50Asn) c.-189C>A (n.-189C>A) c.611C>A (p.Thr204Asn) | |
17 | g.42538361C>G | CA399598371 | NAGLU | c.554C>G (p.Thr185Ser) c.156C>G c.242C>G (p.Thr81Ser) c.149C>G (p.Thr50Ser) c.-189C>G (n.-189C>G) c.611C>G (p.Thr204Ser) | |
17 | g.42538361C>T | CA399598372 | NAGLU | c.554C>T (p.Thr185Ile) c.156C>T c.242C>T (p.Thr81Ile) c.149C>T (p.Thr50Ile) c.-189C>T (n.-189C>T) c.611C>T (p.Thr204Ile) | |
17 | g.42538362C>A | CA500216313 | NAGLU | c.555C>A (p.Thr185=) c.157C>A c.243C>A (p.Thr81=) c.150C>A (p.Thr50=) c.-188C>A (n.-188C>A) c.612C>A (p.Thr204=) | |
17 | g.42538362C= | CA2260527820 | NAGLU | c.555C= (p.Thr185=) c.157C= c.243C= (p.Thr81=) c.150C= (p.Thr50=) c.-188C= (n.-188C=) c.612C= (p.Thr204=) | |
17 | g.42538362C>G | CA500216312 | NAGLU | c.555C>G (p.Thr185=) c.157C>G c.243C>G (p.Thr81=) c.150C>G (p.Thr50=) c.-188C>G (n.-188C>G) c.612C>G (p.Thr204=) | ClinVar |
17 | g.42538362C>T | CA290773108 | NAGLU | c.555C>T (p.Thr185=) c.157C>T c.243C>T (p.Thr81=) c.150C>T (p.Thr50=) c.-188C>T (n.-188C>T) c.612C>T (p.Thr204=) | dbSNP gnomAD v4 |
17 | g.42538363C>A | CA399598374 | NAGLU | c.556C>A (p.Gln186Lys) c.158C>A c.244C>A c.151C>A (p.Gln51Lys) c.-187C>A (n.-187C>A) c.613C>A (p.Gln205Lys) | |
17 | g.42538363C= | CA2260527821 | NAGLU | c.556C= (p.Gln186=) c.158C= c.244C= c.151C= (p.Gln51=) c.-187C= (n.-187C=) c.613C= (p.Gln205=) | |
17 | g.42538363C>G | CA399598375 | NAGLU | c.556C>G (p.Gln186Glu) c.158C>G c.244C>G c.151C>G (p.Gln51Glu) c.-187C>G (n.-187C>G) c.613C>G (p.Gln205Glu) | |
17 | g.42538363C>T | CA399598376 | NAGLU | c.556C>T (p.Gln186Ter) c.158C>T c.244C>T c.151C>T (p.Gln51Ter) c.-187C>T (n.-187C>T) c.613C>T (p.Gln205Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538364A>C | CA399598377 | NAGLU | c.557A>C (p.Gln186Pro) c.159A>C c.245A>C c.152A>C (p.Gln51Pro) c.-186A>C (n.-186A>C) c.614A>C (p.Gln205Pro) | |
17 | g.42538364A>G | CA399598378 | NAGLU | c.557A>G (p.Gln186Arg) c.159A>G c.245A>G c.152A>G (p.Gln51Arg) c.-186A>G (n.-186A>G) c.614A>G (p.Gln205Arg) | |
17 | g.42538364A>T | CA399598379 | NAGLU | c.557A>T (p.Gln186Leu) c.159A>T c.245A>T c.152A>T (p.Gln51Leu) c.-186A>T (n.-186A>T) c.614A>T (p.Gln205Leu) | |
17 | g.42538365G>A | CA500216315 | NAGLU | c.558G>A (p.Gln186=) c.160G>A c.153G>A (p.Gln51=) c.-185G>A (n.-185G>A) c.615G>A (p.Gln205=) | |
17 | g.42538365G>C | CA399598380 | NAGLU | c.558G>C (p.Gln186His) c.160G>C c.153G>C (p.Gln51His) c.-185G>C (n.-185G>C) c.615G>C (p.Gln205His) | |
17 | g.42538365G>T | CA399598381 | NAGLU | c.558G>T (p.Gln186His) c.160G>T c.153G>T (p.Gln51His) c.-185G>T (n.-185G>T) c.615G>T (p.Gln205His) | |
17 | g.42538366G>A | CA399598382 | NAGLU | c.559G>A (p.Ala187Thr) c.161G>A c.154G>A (p.Ala52Thr) c.-184G>A (n.-184G>A) c.616G>A (p.Ala206Thr) | |
17 | g.42538366G>C | CA399598383 | NAGLU | c.559G>C (p.Ala187Pro) c.161G>C c.154G>C (p.Ala52Pro) c.-184G>C (n.-184G>C) c.616G>C (p.Ala206Pro) | |
17 | g.42538366G>T | CA399598384 | NAGLU | c.559G>T (p.Ala187Ser) c.161G>T c.154G>T (p.Ala52Ser) c.-184G>T (n.-184G>T) c.616G>T (p.Ala206Ser) | |
17 | g.42538367C>A | CA399598386 | NAGLU | c.560C>A (p.Ala187Glu) c.162C>A c.155C>A (p.Ala52Glu) c.-183C>A (n.-183C>A) c.617C>A (p.Ala206Glu) | |
17 | g.42538367C>G | CA399598387 | NAGLU | c.560C>G (p.Ala187Gly) c.162C>G c.155C>G (p.Ala52Gly) c.-183C>G (n.-183C>G) c.617C>G (p.Ala206Gly) | |
17 | g.42538367C>T | CA399598385 | NAGLU | c.560C>T (p.Ala187Val) c.162C>T c.155C>T (p.Ala52Val) c.-183C>T (n.-183C>T) c.617C>T (p.Ala206Val) | |
17 | g.42538368A>C | CA500216319 | NAGLU | c.561A>C (p.Ala187=) c.163A>C c.156A>C (p.Ala52=) c.-182A>C (n.-182A>C) c.618A>C (p.Ala206=) | |
17 | g.42538368A>G | CA500216320 | NAGLU | c.561A>G (p.Ala187=) c.163A>G c.156A>G (p.Ala52=) c.-182A>G (n.-182A>G) c.618A>G (p.Ala206=) | |
17 | g.42538368A>T | CA500216321 | NAGLU | c.561A>T (p.Ala187=) c.163A>T c.156A>T (p.Ala52=) c.-182A>T (n.-182A>T) c.618A>T (p.Ala206=) | |
17 | g.42538369G>A | CA399598388 | NAGLU | c.562G>A (p.Glu188Lys) c.164G>A c.157G>A (p.Glu53Lys) c.-181G>A (n.-181G>A) c.619G>A (p.Glu207Lys) | |
17 | g.42538369G>C | CA399598389 | NAGLU | c.562G>C (p.Glu188Gln) c.164G>C c.157G>C (p.Glu53Gln) c.-181G>C (n.-181G>C) c.619G>C (p.Glu207Gln) | |
17 | g.42538369G>T | CA399598390 | NAGLU | c.562G>T (p.Glu188Ter) c.164G>T c.157G>T (p.Glu53Ter) c.-181G>T (n.-181G>T) c.619G>T (p.Glu207Ter) | |
17 | g.42538370A>C | CA399598391 | NAGLU | c.563A>C (p.Glu188Ala) c.165A>C c.158A>C (p.Glu53Ala) c.-180A>C (n.-180A>C) c.620A>C (p.Glu207Ala) | |
17 | g.42538370A>G | CA399598392 | NAGLU | c.563A>G (p.Glu188Gly) c.165A>G c.158A>G (p.Glu53Gly) c.-180A>G (n.-180A>G) c.620A>G (p.Glu207Gly) | |
17 | g.42538370A>T | CA399598393 | NAGLU | c.563A>T (p.Glu188Val) c.165A>T c.158A>T (p.Glu53Val) c.-180A>T (n.-180A>T) c.620A>T (p.Glu207Val) | |
17 | g.42538371G>A | CA500216323 | NAGLU | c.564G>A (p.Glu188=) c.166G>A c.159G>A (p.Glu53=) c.-179G>A (n.-179G>A) c.621G>A (p.Glu207=) | |
17 | g.42538371G>C | CA399598394 | NAGLU | c.564G>C (p.Glu188Asp) c.166G>C c.159G>C (p.Glu53Asp) c.-179G>C (n.-179G>C) c.621G>C (p.Glu207Asp) | |
17 | g.42538371G>T | CA399598395 | NAGLU | c.564G>T (p.Glu188Asp) c.166G>T c.159G>T (p.Glu53Asp) c.-179G>T (n.-179G>T) c.621G>T (p.Glu207Asp) | |
17 | g.42538372A>C | CA399598396 | NAGLU | c.565A>C (p.Ile189Leu) c.167A>C c.160A>C (p.Ile54Leu) c.-178A>C (n.-178A>C) c.622A>C (p.Ile208Leu) | |
17 | g.42538372A>G | CA399598397 | NAGLU | c.565A>G (p.Ile189Val) c.167A>G c.160A>G (p.Ile54Val) c.-178A>G (n.-178A>G) c.622A>G (p.Ile208Val) | |
17 | g.42538372A>T | CA399598398 | NAGLU | c.565A>T (p.Ile189Phe) c.167A>T c.160A>T (p.Ile54Phe) c.-178A>T (n.-178A>T) c.622A>T (p.Ile208Phe) | |
17 | g.42538373T>A | CA399598399 | NAGLU | c.566T>A (p.Ile189Asn) c.168T>A c.161T>A (p.Ile54Asn) c.-177T>A (n.-177T>A) c.623T>A (p.Ile208Asn) | |
17 | g.42538373T>C | CA399598400 | NAGLU | c.566T>C (p.Ile189Thr) c.168T>C c.161T>C (p.Ile54Thr) c.-177T>C (n.-177T>C) c.623T>C (p.Ile208Thr) | |
17 | g.42538373T>G | CA399598401 | NAGLU | c.566T>G (p.Ile189Ser) c.168T>G c.161T>G (p.Ile54Ser) c.-177T>G (n.-177T>G) c.623T>G (p.Ile208Ser) | |
17 | g.42538374C>A | CA500216326 | NAGLU | c.567C>A (p.Ile189=) c.169C>A c.162C>A (p.Ile54=) c.-176C>A (n.-176C>A) c.624C>A (p.Ile208=) | gnomAD v4 |
17 | g.42538374C>G | CA399598402 | NAGLU | c.567C>G (p.Ile189Met) c.169C>G c.162C>G (p.Ile54Met) c.-176C>G (n.-176C>G) c.624C>G (p.Ile208Met) | |
17 | g.42538374C>T | CA500216325 | NAGLU | c.567C>T (p.Ile189=) c.169C>T c.162C>T (p.Ile54=) c.-176C>T (n.-176C>T) c.624C>T (p.Ile208=) | |
17 | g.42538375A>C | CA399598403 | NAGLU | c.568A>C (p.Asn190His) c.170A>C c.163A>C (p.Asn55His) c.-175A>C (n.-175A>C) c.625A>C (p.Asn209His) | |
17 | g.42538375A>G | CA399598404 | NAGLU | c.568A>G (p.Asn190Asp) c.170A>G c.163A>G (p.Asn55Asp) c.-175A>G (n.-175A>G) c.625A>G (p.Asn209Asp) | |
17 | g.42538375A>T | CA399598405 | NAGLU | c.568A>T (p.Asn190Tyr) c.170A>T c.163A>T (p.Asn55Tyr) c.-175A>T (n.-175A>T) c.625A>T (p.Asn209Tyr) | |
17 | g.42538376A= | CA2260527822 | NAGLU | c.569A= (p.Asn190=) c.171A= c.164A= (p.Asn55=) c.-174A= (n.-174A=) c.626A= (p.Asn209=) | |
17 | g.42538376A>C | CA399598406 | NAGLU | c.569A>C (p.Asn190Thr) c.171A>C c.164A>C (p.Asn55Thr) c.-174A>C (n.-174A>C) c.626A>C (p.Asn209Thr) | |
17 | g.42538376A>G | CA8576796 | NAGLU | c.569A>G (p.Asn190Ser) c.171A>G c.164A>G (p.Asn55Ser) c.-174A>G (n.-174A>G) c.626A>G (p.Asn209Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538376A>T | CA399598407 | NAGLU | c.569A>T (p.Asn190Ile) c.171A>T c.164A>T (p.Asn55Ile) c.-174A>T (n.-174A>T) c.626A>T (p.Asn209Ile) | |
17 | g.42538377T>A | CA399598408 | NAGLU | c.570T>A (p.Asn190Lys) c.172T>A c.165T>A (p.Asn55Lys) c.-173T>A (n.-173T>A) c.627T>A (p.Asn209Lys) | |
17 | g.42538377T>C | CA8576797 | NAGLU | c.570T>C (p.Asn190=) c.172T>C c.165T>C (p.Asn55=) c.-173T>C (n.-173T>C) c.627T>C (p.Asn209=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538377T>G | CA399598409 | NAGLU | c.570T>G (p.Asn190Lys) c.172T>G c.165T>G (p.Asn55Lys) c.-173T>G (n.-173T>G) c.627T>G (p.Asn209Lys) | |
17 | g.42538377T= | CA2260527823 | NAGLU | c.570T= (p.Asn190=) c.172T= c.165T= (p.Asn55=) c.-173T= (n.-173T=) c.627T= (p.Asn209=) | |
17 | g.42538378G>A | CA399598410 | NAGLU | c.571G>A (p.Glu191Lys) c.173G>A c.166G>A (p.Glu56Lys) c.-172G>A (n.-172G>A) c.628G>A (p.Glu210Lys) | |
17 | g.42538378G>C | CA399598411 | NAGLU | c.571G>C (p.Glu191Gln) c.173G>C c.166G>C (p.Glu56Gln) c.-172G>C (n.-172G>C) c.628G>C (p.Glu210Gln) | |
17 | g.42538378G>T | CA399598412 | NAGLU | c.571G>T (p.Glu191Ter) c.173G>T c.166G>T (p.Glu56Ter) c.-172G>T (n.-172G>T) c.628G>T (p.Glu210Ter) | |
17 | g.42538379A>C | CA399598413 | NAGLU | c.572A>C (p.Glu191Ala) c.174A>C c.167A>C (p.Glu56Ala) c.-171A>C (n.-171A>C) c.629A>C (p.Glu210Ala) | |
17 | g.42538379A>G | CA399598414 | NAGLU | c.572A>G (p.Glu191Gly) c.174A>G c.167A>G (p.Glu56Gly) c.-171A>G (n.-171A>G) c.629A>G (p.Glu210Gly) | |
17 | g.42538379A>T | CA399598415 | NAGLU | c.572A>T (p.Glu191Val) c.174A>T c.167A>T (p.Glu56Val) c.-171A>T (n.-171A>T) c.629A>T (p.Glu210Val) | |
17 | g.42538380G>A | CA500216332 | NAGLU | c.573G>A (p.Glu191=) c.175G>A c.168G>A (p.Glu56=) c.-170G>A (n.-170G>A) c.630G>A (p.Glu210=) | gnomAD v4 |
17 | g.42538380G>C | CA399598416 | NAGLU | c.573G>C (p.Glu191Asp) c.175G>C c.168G>C (p.Glu56Asp) c.-170G>C (n.-170G>C) c.630G>C (p.Glu210Asp) | |
17 | g.42538380G>T | CA399598417 | NAGLU | c.573G>T (p.Glu191Asp) c.175G>T c.168G>T (p.Glu56Asp) c.-170G>T (n.-170G>T) c.630G>T (p.Glu210Asp) | |
17 | g.42538381T>A | CA399598418 | NAGLU | c.574T>A (p.Phe192Ile) c.176T>A c.169T>A (p.Phe57Ile) c.-169T>A (n.-169T>A) c.631T>A (p.Phe211Ile) | |
17 | g.42538381T>C | CA399598419 | NAGLU | c.574T>C (p.Phe192Leu) c.176T>C c.169T>C (p.Phe57Leu) c.-169T>C (n.-169T>C) c.631T>C (p.Phe211Leu) | |
17 | g.42538381T>G | CA399598420 | NAGLU | c.574T>G (p.Phe192Val) c.176T>G c.169T>G (p.Phe57Val) c.-169T>G (n.-169T>G) c.631T>G (p.Phe211Val) | |
17 | g.42538382T>A | CA399598421 | NAGLU | c.575T>A (p.Phe192Tyr) c.177T>A c.170T>A (p.Phe57Tyr) c.-168T>A (n.-168T>A) c.632T>A (p.Phe211Tyr) | |
17 | g.42538382T>C | CA399598422 | NAGLU | c.575T>C (p.Phe192Ser) c.177T>C c.170T>C (p.Phe57Ser) c.-168T>C (n.-168T>C) c.632T>C (p.Phe211Ser) | |
17 | g.42538382T>G | CA399598423 | NAGLU | c.575T>G (p.Phe192Cys) c.177T>G c.170T>G (p.Phe57Cys) c.-168T>G (n.-168T>G) c.632T>G (p.Phe211Cys) | |
17 | g.42538383C>A | CA8576798 | NAGLU | c.576C>A (p.Phe192Leu) c.178C>A c.171C>A (p.Phe57Leu) c.-167C>A (n.-167C>A) c.633C>A (p.Phe211Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.42538383C= | CA2260527824 | NAGLU | c.576C= (p.Phe192=) c.178C= c.171C= (p.Phe57=) c.-167C= (n.-167C=) c.633C= (p.Phe211=) | |
17 | g.42538383C>G | CA399598425 | NAGLU | c.576C>G (p.Phe192Leu) c.178C>G c.171C>G (p.Phe57Leu) c.-167C>G (n.-167C>G) c.633C>G (p.Phe211Leu) | |
17 | g.42538383C>T | CA500216338 | NAGLU | c.576C>T (p.Phe192=) c.178C>T c.171C>T (p.Phe57=) c.-167C>T (n.-167C>T) c.633C>T (p.Phe211=) | ClinVar gnomAD v4 COSMIC |
17 | g.42538384T>A | CA399598426 | NAGLU | c.577T>A (p.Phe193Ile) c.179T>A c.172T>A (p.Phe58Ile) c.-166T>A (n.-166T>A) c.634T>A (p.Phe212Ile) | |
17 | g.42538384T>C | CA399598428 | NAGLU | c.577T>C (p.Phe193Leu) c.179T>C c.172T>C (p.Phe58Leu) c.-166T>C (n.-166T>C) c.634T>C (p.Phe212Leu) | |
17 | g.42538384T>G | CA399598427 | NAGLU | c.577T>G (p.Phe193Val) c.179T>G c.172T>G (p.Phe58Val) c.-166T>G (n.-166T>G) c.634T>G (p.Phe212Val) | |
17 | g.42538385T>A | CA399598429 | NAGLU | c.578T>A (p.Phe193Tyr) c.180T>A c.173T>A (p.Phe58Tyr) c.-165T>A (n.-165T>A) c.635T>A (p.Phe212Tyr) | |
17 | g.42538385T>C | CA399598430 | NAGLU | c.578T>C (p.Phe193Ser) c.180T>C c.173T>C (p.Phe58Ser) c.-165T>C (n.-165T>C) c.635T>C (p.Phe212Ser) | gnomAD v4 |
17 | g.42538385T>G | CA399598431 | NAGLU | c.578T>G (p.Phe193Cys) c.180T>G c.173T>G (p.Phe58Cys) c.-165T>G (n.-165T>G) c.635T>G (p.Phe212Cys) | |
17 | g.42538386T>A | CA399598432 | NAGLU | c.579T>A (p.Phe193Leu) c.181T>A c.174T>A (p.Phe58Leu) c.-164T>A (n.-164T>A) c.636T>A (p.Phe212Leu) | |
17 | g.42538386T>C | CA500216345 | NAGLU | c.579T>C (p.Phe193=) c.181T>C c.174T>C (p.Phe58=) c.-164T>C (n.-164T>C) c.636T>C (p.Phe212=) | gnomAD v4 |
17 | g.42538386T>G | CA399598433 | NAGLU | c.579T>G (p.Phe193Leu) c.181T>G c.174T>G (p.Phe58Leu) c.-164T>G (n.-164T>G) c.636T>G (p.Phe212Leu) | |
17 | g.42538387A= | CA2260527825 | NAGLU | c.580A= (p.Thr194=) c.182A= c.175A= (p.Thr59=) c.-163A= (n.-163A=) c.637A= (p.Thr213=) | |
17 | g.42538387A>C | CA399598434 | NAGLU | c.580A>C (p.Thr194Pro) c.182A>C c.175A>C (p.Thr59Pro) c.-163A>C (n.-163A>C) c.637A>C (p.Thr213Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538387A>G | CA399598436 | NAGLU | c.580A>G (p.Thr194Ala) c.182A>G c.175A>G (p.Thr59Ala) c.-163A>G (n.-163A>G) c.637A>G (p.Thr213Ala) | |
17 | g.42538387A>T | CA399598435 | NAGLU | c.580A>T (p.Thr194Ser) c.182A>T c.175A>T (p.Thr59Ser) c.-163A>T (n.-163A>T) c.637A>T (p.Thr213Ser) | |
17 | g.42538388C>A | CA399598437 | NAGLU | c.581C>A (p.Thr194Asn) c.183C>A c.176C>A (p.Thr59Asn) c.-162C>A (n.-162C>A) c.638C>A (p.Thr213Asn) | |
17 | g.42538388C>G | CA399598438 | NAGLU | c.581C>G (p.Thr194Ser) c.183C>G c.176C>G (p.Thr59Ser) c.-162C>G (n.-162C>G) c.638C>G (p.Thr213Ser) | |
17 | g.42538388C>T | CA399598439 | NAGLU | c.581C>T (p.Thr194Ile) c.183C>T c.176C>T (p.Thr59Ile) c.-162C>T (n.-162C>T) c.638C>T (p.Thr213Ile) | gnomAD v4 |
17 | g.42538389T>A | CA500216349 | NAGLU | c.582T>A (p.Thr194=) c.184T>A c.177T>A (p.Thr59=) c.-161T>A (n.-161T>A) c.639T>A (p.Thr213=) | |
17 | g.42538389T>C | CA500216346 | NAGLU | c.582T>C (p.Thr194=) c.184T>C c.177T>C (p.Thr59=) c.-161T>C (n.-161T>C) c.639T>C (p.Thr213=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42538389T>G | CA500216347 | NAGLU | c.582T>G (p.Thr194=) c.184T>G c.177T>G (p.Thr59=) c.-161T>G (n.-161T>G) c.639T>G (p.Thr213=) | |
17 | g.42538389T= | CA2260527826 | NAGLU | c.582T= (p.Thr194=) c.184T= c.177T= (p.Thr59=) c.-161T= (n.-161T=) c.639T= (p.Thr213=) | |
17 | g.42538390G>A | CA399598440 | NAGLU | c.583G>A (p.Gly195Ser) c.185G>A c.178G>A (p.Gly60Ser) c.-160G>A (n.-160G>A) c.640G>A (p.Gly214Ser) | |
17 | g.42538390G>C | CA399598441 | NAGLU | c.583G>C (p.Gly195Arg) c.185G>C c.178G>C (p.Gly60Arg) c.-160G>C (n.-160G>C) c.640G>C (p.Gly214Arg) | |
17 | g.42538390G>T | CA399598442 | NAGLU | c.583G>T (p.Gly195Cys) c.185G>T c.178G>T (p.Gly60Cys) c.-160G>T (n.-160G>T) c.640G>T (p.Gly214Cys) | |
17 | g.42538391G>A | CA399598443 | NAGLU | c.584G>A (p.Gly195Asp) c.186G>A c.179G>A (p.Gly60Asp) c.-159G>A (n.-159G>A) c.641G>A (p.Gly214Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42538391G>C | CA399598444 | NAGLU | c.584G>C (p.Gly195Ala) c.186G>C c.179G>C (p.Gly60Ala) c.-159G>C (n.-159G>C) c.641G>C (p.Gly214Ala) | |
17 | g.42538391G= | CA2260527827 | NAGLU | c.584G= (p.Gly195=) c.186G= c.179G= (p.Gly60=) c.-159G= (n.-159G=) c.641G= (p.Gly214=) | |
17 | g.42538391G>T | CA399598445 | NAGLU | c.584G>T (p.Gly195Val) c.186G>T c.179G>T (p.Gly60Val) c.-159G>T (n.-159G>T) c.641G>T (p.Gly214Val) | |
17 | g.42538392T>A | CA500216353 | NAGLU | c.585T>A (p.Gly195=) c.187T>A c.180T>A (p.Gly60=) c.-158T>A (n.-158T>A) c.642T>A (p.Gly214=) | |
17 | g.42538392T>C | CA500216351 | NAGLU | c.585T>C (p.Gly195=) c.187T>C c.180T>C (p.Gly60=) c.-158T>C (n.-158T>C) c.642T>C (p.Gly214=) | |
17 | g.42538392T>G | CA500216354 | NAGLU | c.585T>G (p.Gly195=) c.187T>G c.180T>G (p.Gly60=) c.-158T>G (n.-158T>G) c.642T>G (p.Gly214=) | gnomAD v4 |
17 | g.42538393C>A | CA399598446 | NAGLU | c.586C>A (p.Pro196Thr) c.188C>A c.181C>A (p.Pro61Thr) c.-157C>A (n.-157C>A) c.643C>A (p.Pro215Thr) | |
17 | g.42538393C= | CA2260527828 | NAGLU | c.586C= (p.Pro196=) c.188C= c.181C= (p.Pro61=) c.-157C= (n.-157C=) c.643C= (p.Pro215=) | |
17 | g.42538393C>G | CA399598447 | NAGLU | c.586C>G (p.Pro196Ala) c.188C>G c.181C>G (p.Pro61Ala) c.-157C>G (n.-157C>G) c.643C>G (p.Pro215Ala) | |
17 | g.42538393C>T | CA399598448 | NAGLU | c.586C>T (p.Pro196Ser) c.188C>T c.181C>T (p.Pro61Ser) c.-157C>T (n.-157C>T) c.643C>T (p.Pro215Ser) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42538394C>A | CA399598449 | NAGLU | c.587C>A (p.Pro196His) c.189C>A c.182C>A (p.Pro61His) c.-156C>A (n.-156C>A) c.644C>A (p.Pro215His) | dbSNP |
17 | g.42538394C= | CA2260527829 | NAGLU | c.587C= (p.Pro196=) c.189C= c.182C= (p.Pro61=) c.-156C= (n.-156C=) c.644C= (p.Pro215=) | |
17 | g.42538394C>G | CA399598451 | NAGLU | c.587C>G (p.Pro196Arg) c.189C>G c.182C>G (p.Pro61Arg) c.-156C>G (n.-156C>G) c.644C>G (p.Pro215Arg) | |
17 | g.42538394C>T | CA399598450 | NAGLU | c.587C>T (p.Pro196Leu) c.189C>T c.182C>T (p.Pro61Leu) c.-156C>T (n.-156C>T) c.644C>T (p.Pro215Leu) | ClinVar dbSNP gnomAD v4 |