| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 17 | g.42538395T>A | CA500216358 | NAGLU | c.588T>A (p.Pro196=) c.190T>A c.183T>A (p.Pro61=) c.-155T>A (n.-155T>A) c.645T>A (p.Pro215=) | |
| 17 | g.42538395T>C | CA500216360 | NAGLU | c.588T>C (p.Pro196=) c.190T>C c.183T>C (p.Pro61=) c.-155T>C (n.-155T>C) c.645T>C (p.Pro215=) | |
| 17 | g.42538395T>G | CA500216359 | NAGLU | c.588T>G (p.Pro196=) c.190T>G c.183T>G (p.Pro61=) c.-155T>G (n.-155T>G) c.645T>G (p.Pro215=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42538395T= | CA2260527830 | NAGLU | c.588T= (p.Pro196=) c.190T= c.183T= (p.Pro61=) c.-155T= (n.-155T=) c.645T= (p.Pro215=) | |
| 17 | g.42538396G>A | CA399598452 | NAGLU | c.589G>A (p.Ala197Thr) c.191G>A c.184G>A (p.Ala62Thr) c.-154G>A (n.-154G>A) c.646G>A (p.Ala216Thr) |