| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42538691C>A | CA399598918 | NAGLU | c.700C>A (p.Arg234Ser) c.302C>A c.295C>A (p.Arg99Ser) c.-43C>A (n.-43C>A) c.757C>A (p.Arg253Ser) | dbSNP |
| 17 | g.42538691C= | CA2260527970 | NAGLU | c.700C= (p.Arg234=) c.302C= c.295C= (p.Arg99=) c.-43C= (n.-43C=) c.757C= (p.Arg253=) | |
| 17 | g.42538691C>G | CA399598919 | NAGLU | c.700C>G (p.Arg234Gly) c.302C>G c.295C>G (p.Arg99Gly) c.-43C>G (n.-43C>G) c.757C>G (p.Arg253Gly) | ClinVar dbSNP |
| 17 | g.42538691C>T | CA115055 | NAGLU | c.700C>T (p.Arg234Cys) c.302C>T c.295C>T (p.Arg99Cys) c.-43C>T (n.-43C>T) c.757C>T (p.Arg253Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42538692G>A | CA399598921 | NAGLU | c.701G>A (p.Arg234His) c.303G>A c.296G>A (p.Arg99His) c.-42G>A (n.-42G>A) c.758G>A (p.Arg253His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42538692G>C | CA10603774 | NAGLU | c.701G>C (p.Arg234Pro) c.303G>C c.296G>C (p.Arg99Pro) c.-42G>C (n.-42G>C) c.758G>C (p.Arg253Pro) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42538692G= | CA2260527971 | NAGLU | c.701G= (p.Arg234=) c.303G= c.296G= (p.Arg99=) c.-42G= (n.-42G=) c.758G= (p.Arg253=) | |
| 17 | g.42538692G>T | CA399598923 | NAGLU | c.701G>T (p.Arg234Leu) c.303G>T c.296G>T (p.Arg99Leu) c.-42G>T (n.-42G>T) c.758G>T (p.Arg253Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42538693C>A | CA500216490 | NAGLU | c.702C>A (p.Arg234=) c.304C>A c.297C>A (p.Arg99=) c.-41C>A (n.-41C>A) c.759C>A (p.Arg253=) | gnomAD v4 |
| 17 | g.42538693C= | CA2260527972 | NAGLU | c.702C= (p.Arg234=) c.304C= c.297C= (p.Arg99=) c.-41C= (n.-41C=) c.759C= (p.Arg253=) | |
| 17 | g.42538693C>G | CA500216491 | NAGLU | c.702C>G (p.Arg234=) c.304C>G c.297C>G (p.Arg99=) c.-41C>G (n.-41C>G) c.759C>G (p.Arg253=) | |
| 17 | g.42538693C>T | CA500216492 | NAGLU | c.702C>T (p.Arg234=) c.304C>T c.297C>T (p.Arg99=) c.-41C>T (n.-41C>T) c.759C>T (p.Arg253=) | ClinVar dbSNP |
| 17 | g.42538694del | CA2695226063 | NAGLU | c.703del (p.Ser235ProfsTer4) c.305del c.298del (p.Ser100ProfsTer4) c.-40del (n.-40del) c.760del (p.Ser254ProfsTer4) | |
| 17 | g.42538694T>A | CA399598929 | NAGLU | c.703T>A (p.Ser235Thr) c.305T>A c.298T>A (p.Ser100Thr) c.-40T>A (n.-40T>A) c.760T>A (p.Ser254Thr) | |
| 17 | g.42538694T>C | CA399598927 | NAGLU | c.703T>C (p.Ser235Pro) c.305T>C c.298T>C (p.Ser100Pro) c.-40T>C (n.-40T>C) c.760T>C (p.Ser254Pro) | ClinVar dbSNP |
| 17 | g.42538694T>G | CA399598925 | NAGLU | c.703T>G (p.Ser235Ala) c.305T>G c.298T>G (p.Ser100Ala) c.-40T>G (n.-40T>G) c.760T>G (p.Ser254Ala) | |
| 17 | g.42538695C>A | CA399598930 | NAGLU | c.704C>A (p.Ser235Tyr) c.306C>A c.299C>A (p.Ser100Tyr) c.-39C>A (n.-39C>A) c.761C>A (p.Ser254Tyr) | |
| 17 | g.42538695C>G | CA399598931 | NAGLU | c.704C>G (p.Ser235Cys) c.306C>G c.299C>G (p.Ser100Cys) c.-39C>G (n.-39C>G) c.761C>G (p.Ser254Cys) | |
| 17 | g.42538695C>T | CA399598932 | NAGLU | c.704C>T (p.Ser235Phe) c.306C>T c.299C>T (p.Ser100Phe) c.-39C>T (n.-39C>T) c.761C>T (p.Ser254Phe) | gnomAD v4 |
| 17 | g.42538696C>A | CA500216495 | NAGLU | c.705C>A (p.Ser235=) c.307C>A c.300C>A (p.Ser100=) c.-38C>A (n.-38C>A) c.762C>A (p.Ser254=) | |
| 17 | g.42538696C>G | CA500216494 | NAGLU | c.705C>G (p.Ser235=) c.307C>G c.300C>G (p.Ser100=) c.-38C>G (n.-38C>G) c.762C>G (p.Ser254=) | |
| 17 | g.42538696C>T | CA500216493 | NAGLU | c.705C>T (p.Ser235=) c.307C>T c.300C>T (p.Ser100=) c.-38C>T (n.-38C>T) c.762C>T (p.Ser254=) | |
| 17 | g.42538697T>A | CA399598934 | NAGLU | c.706T>A (p.Phe236Ile) c.308T>A c.301T>A (p.Phe101Ile) c.-37T>A (n.-37T>A) c.763T>A (p.Phe255Ile) | |
| 17 | g.42538697T>C | CA399598936 | NAGLU | c.706T>C (p.Phe236Leu) c.308T>C c.301T>C (p.Phe101Leu) c.-37T>C (n.-37T>C) c.763T>C (p.Phe255Leu) | |
| 17 | g.42538697T>G | CA399598938 | NAGLU | c.706T>G (p.Phe236Val) c.308T>G c.301T>G (p.Phe101Val) c.-37T>G (n.-37T>G) c.763T>G (p.Phe255Val) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42538698T>A | CA399598943 | NAGLU | c.707T>A (p.Phe236Tyr) c.309T>A c.302T>A (p.Phe101Tyr) c.-36T>A (n.-36T>A) c.764T>A (p.Phe255Tyr) | |
| 17 | g.42538698T>C | CA399598941 | NAGLU | c.707T>C (p.Phe236Ser) c.309T>C c.302T>C (p.Phe101Ser) c.-36T>C (n.-36T>C) c.764T>C (p.Phe255Ser) | ClinVar |
| 17 | g.42538698T>G | CA399598940 | NAGLU | c.707T>G (p.Phe236Cys) c.309T>G c.302T>G (p.Phe101Cys) c.-36T>G (n.-36T>G) c.764T>G (p.Phe255Cys) | |
| 17 | g.42538699C>A | CA399598946 | NAGLU | c.708C>A (p.Phe236Leu) c.310C>A c.303C>A (p.Phe101Leu) c.-35C>A (n.-35C>A) c.765C>A (p.Phe255Leu) | |
| 17 | g.42538699C= | CA2260527973 | NAGLU | c.708C= (p.Phe236=) c.310C= c.303C= (p.Phe101=) c.-35C= (n.-35C=) c.765C= (p.Phe255=) | |
| 17 | g.42538699C>G | CA399598947 | NAGLU | c.708C>G (p.Phe236Leu) c.310C>G c.303C>G (p.Phe101Leu) c.-35C>G (n.-35C>G) c.765C>G (p.Phe255Leu) | |
| 17 | g.42538699C>T | CA8576834 | NAGLU | c.708C>T (p.Phe236=) c.310C>T c.303C>T (p.Phe101=) c.-35C>T (n.-35C>T) c.765C>T (p.Phe255=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42538700G>A | CA399598948 | NAGLU | c.709G>A (p.Gly237Ser) c.311G>A c.304G>A (p.Gly102Ser) c.-34G>A (n.-34G>A) c.766G>A (p.Gly256Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42538700G>C | CA399598949 | NAGLU | c.709G>C (p.Gly237Arg) c.311G>C c.304G>C (p.Gly102Arg) c.-34G>C (n.-34G>C) c.766G>C (p.Gly256Arg) | gnomAD v4 |
| 17 | g.42538700G= | CA2260527974 | NAGLU | c.709G= (p.Gly237=) c.311G= c.304G= (p.Gly102=) c.-34G= (n.-34G=) c.766G= (p.Gly256=) | |
| 17 | g.42538700G>T | CA399598950 | NAGLU | c.709G>T (p.Gly237Cys) c.311G>T c.304G>T (p.Gly102Cys) c.-34G>T (n.-34G>T) c.766G>T (p.Gly256Cys) | |
| 17 | g.42538701_42538705dup | CA2580093985 | NAGLU | c.710_714dup (p.Thr239AlafsTer2) c.312_316dup c.305_309dup (p.Thr104AlafsTer2) c.-33_-29dup (n.-33_-29dup) c.767_771dup (p.Thr258AlafsTer2) | ClinVar gnomAD v4 |
| 17 | g.42538701G>A | CA8576835 | NAGLU | c.710G>A (p.Gly237Asp) c.312G>A c.305G>A (p.Gly102Asp) c.-33G>A (n.-33G>A) c.767G>A (p.Gly256Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42538701G>C | CA399598953 | NAGLU | c.710G>C (p.Gly237Ala) c.312G>C c.305G>C (p.Gly102Ala) c.-33G>C (n.-33G>C) c.767G>C (p.Gly256Ala) | |
| 17 | g.42538701G= | CA2260527975 | NAGLU | c.710G= (p.Gly237=) c.312G= c.305G= (p.Gly102=) c.-33G= (n.-33G=) c.767G= (p.Gly256=) | |
| 17 | g.42538701G>T | CA399598952 | NAGLU | c.710G>T (p.Gly237Val) c.312G>T c.305G>T (p.Gly102Val) c.-33G>T (n.-33G>T) c.767G>T (p.Gly256Val) | |
| 17 | g.42538702C>A | CA500216496 | NAGLU | c.711C>A (p.Gly237=) c.313C>A c.306C>A (p.Gly102=) c.-32C>A (n.-32C>A) c.768C>A (p.Gly256=) | gnomAD v4 |
| 17 | g.42538702C>G | CA500216497 | NAGLU | c.711C>G (p.Gly237=) c.313C>G c.306C>G (p.Gly102=) c.-32C>G (n.-32C>G) c.768C>G (p.Gly256=) | |
| 17 | g.42538702C>T | CA500216498 | NAGLU | c.711C>T (p.Gly237=) c.313C>T c.306C>T (p.Gly102=) c.-32C>T (n.-32C>T) c.768C>T (p.Gly256=) | |
| 17 | g.42538703A= | CA2260527976 | NAGLU | c.712A= (p.Met238=) c.314A= c.307A= (p.Met103=) c.-31A= (n.-31A=) c.769A= (p.Met257=) | |
| 17 | g.42538703A>C | CA399598955 | NAGLU | c.712A>C (p.Met238Leu) c.314A>C c.307A>C (p.Met103Leu) c.-31A>C (n.-31A>C) c.769A>C (p.Met257Leu) | |
| 17 | g.42538703A>G | CA399598957 | NAGLU | c.712A>G (p.Met238Val) c.314A>G c.307A>G (p.Met103Val) c.-31A>G (n.-31A>G) c.769A>G (p.Met257Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42538703A>T | CA399598958 | NAGLU | c.712A>T (p.Met238Leu) c.314A>T c.307A>T (p.Met103Leu) c.-31A>T (n.-31A>T) c.769A>T (p.Met257Leu) | dbSNP gnomAD v4 |
| 17 | g.42538704del | CA2573153968 | NAGLU | c.713del (p.Met238ArgfsTer?) c.315del c.308del (p.Met103ArgfsTer?) c.-30del (n.-30del) c.770del (p.Met257ArgfsTer?) | ClinVar dbSNP |
| 17 | g.42538704T>A | CA399598959 | NAGLU | c.713T>A (p.Met238Lys) c.315T>A c.308T>A (p.Met103Lys) c.-30T>A (n.-30T>A) c.770T>A (p.Met257Lys) |