17 | g.42536354_42536386del | CA1139665539 | NAGLU | c.82_114del (p.Glu28_Arg38del)
| ClinVar dbSNP |
17 | g.42536379_42536385del | CA2637965723 | NAGLU | c.107_113del (p.Val36GlyfsTer?)
| gnomAD v4 |
17 | g.42536384del | CA2637965729 | NAGLU | c.112del (p.Arg38GlyfsTer?)
| gnomAD v4 |
17 | g.42536383C>A | CA500215866 | NAGLU | c.111C>A (p.Ala37=)
| gnomAD v4 |
17 | g.42536383C>G | CA500215863 | NAGLU | c.111C>G (p.Ala37=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536383C>T | CA500215869 | NAGLU | c.111C>T (p.Ala37=)
| gnomAD v4 |
17 | g.42536383_42536392delinsAGCC | CA2580093746 | NAGLU | c.111_120delinsAGCC (p.Arg38_Leu40delinsAla)
| ClinVar dbSNP |
17 | g.42536384C>A | CA500215871 | NAGLU | c.112C>A (p.Arg38=)
| dbSNP gnomAD v4 |
17 | g.42536384C= | CA2260526721 | NAGLU | c.112C= (p.Arg38=)
| |
17 | g.42536384C>G | CA399595332 | NAGLU | c.112C>G (p.Arg38Gly)
| |
17 | g.42536384C>T | CA399595333 | NAGLU | c.112C>T (p.Arg38Trp)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536385G>A | CA399595334 | NAGLU | c.113G>A (p.Arg38Gln)
| gnomAD v4 |
17 | g.42536385G>C | CA399595335 | NAGLU | c.113G>C (p.Arg38Pro)
| gnomAD v4 |
17 | g.42536385G>T | CA399595336 | NAGLU | c.113G>T (p.Arg38Leu)
| gnomAD v4 |
17 | g.42536387_42536394del | CA2573154144 | NAGLU | c.115_122del (p.Leu39AlafsTer?)
| dbSNP |
17 | g.42536386G>A | CA500215872 | NAGLU | c.114G>A (p.Arg38=)
| gnomAD v4 |
17 | g.42536386G>C | CA500215875 | NAGLU | c.114G>C (p.Arg38=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536386G= | CA2260526722 | NAGLU | c.114G= (p.Arg38=)
| |
17 | g.42536386G>T | CA500215873 | NAGLU | c.114G>T (p.Arg38=)
| gnomAD v4 |
17 | g.42536387C>A | CA399595337 | NAGLU | c.115C>A (p.Leu39Met)
| gnomAD v4 |
17 | g.42536387C>G | CA399595338 | NAGLU | c.115C>G (p.Leu39Val)
| gnomAD v4 |
17 | g.42536387C>T | CA500215877 | NAGLU | c.115C>T (p.Leu39=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536388T>A | CA399595339 | NAGLU | c.116T>A (p.Leu39Gln)
| |
17 | g.42536388T>C | CA399595340 | NAGLU | c.116T>C (p.Leu39Pro)
| gnomAD v4 |
17 | g.42536388T>G | CA399595341 | NAGLU | c.116T>G (p.Leu39Arg)
| |
17 | g.42536389G>A | CA500215878 | NAGLU | c.117G>A (p.Leu39=)
| dbSNP gnomAD v4 |
17 | g.42536389G>C | CA500215879 | NAGLU | c.117G>C (p.Leu39=)
| |
17 | g.42536389G= | CA2260526723 | NAGLU | c.117G= (p.Leu39=)
| |
17 | g.42536389G>T | CA500215881 | NAGLU | c.117G>T (p.Leu39=)
| gnomAD v4 |
17 | g.42536390C>A | CA399595342 | NAGLU | c.118C>A (p.Leu40Met)
| gnomAD v4 |
17 | g.42536390C>G | CA399595343 | NAGLU | c.118C>G (p.Leu40Val)
| gnomAD v4 |
17 | g.42536390C>T | CA500215884 | NAGLU | c.118C>T (p.Leu40=)
| gnomAD v4 |
17 | g.42536391T>A | CA399595344 | NAGLU | c.119T>A (p.Leu40Gln)
| |
17 | g.42536391T>C | CA399595346 | NAGLU | c.119T>C (p.Leu40Pro)
| gnomAD v4 |
17 | g.42536391T>G | CA399595347 | NAGLU | c.119T>G (p.Leu40Arg)
| ClinVar |
17 | g.42536392G>A | CA500215887 | NAGLU | c.120G>A (p.Leu40=)
| ClinVar gnomAD v4 |
17 | g.42536392G>C | CA500215885 | NAGLU | c.120G>C (p.Leu40=)
| |
17 | g.42536392G>T | CA500215886 | NAGLU | c.120G>T (p.Leu40=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536395del | CA2637965748 | NAGLU | c.123del (p.Pro42GlnfsTer?)
| gnomAD v4 |
17 | g.42536393G>A | CA399595350 | NAGLU | c.121G>A (p.Gly41Arg)
| gnomAD v4 |
17 | g.42536393G>C | CA399595351 | NAGLU | c.121G>C (p.Gly41Arg)
| gnomAD v4 |
17 | g.42536393G>T | CA399595349 | NAGLU | c.121G>T (p.Gly41Trp)
| gnomAD v4 |
17 | g.42536394G>A | CA399595354 | NAGLU | c.122G>A (p.Gly41Glu)
| gnomAD v4 |
17 | g.42536394G>C | CA399595352 | NAGLU | c.122G>C (p.Gly41Ala)
| |
17 | g.42536394G>T | CA399595353 | NAGLU | c.122G>T (p.Gly41Val)
| gnomAD v4 |
17 | g.42536395G>A | CA500215894 | NAGLU | c.123G>A (p.Gly41=)
| gnomAD v4 |
17 | g.42536395G>C | CA500215893 | NAGLU | c.123G>C (p.Gly41=)
| |
17 | g.42536395G= | CA2260526724 | NAGLU | c.123G= (p.Gly41=)
| |
17 | g.42536395G>T | CA500215895 | NAGLU | c.123G>T (p.Gly41=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536396C>A | CA399595355 | NAGLU | c.124C>A (p.Pro42Thr)
| gnomAD v4 |
17 | g.42536396C>G | CA399595356 | NAGLU | c.124C>G (p.Pro42Ala)
| gnomAD v4 |
17 | g.42536396C>T | CA399595357 | NAGLU | c.124C>T (p.Pro42Ser)
| gnomAD v4 |
17 | g.42536397del | CA2637965755 | NAGLU | c.125del (p.Pro42GlnfsTer?)
| gnomAD v4 |
17 | g.42536397C>A | CA399595358 | NAGLU | c.125C>A (p.Pro42Gln)
| gnomAD v4 |
17 | g.42536397C= | CA2260526725 | NAGLU | c.125C= (p.Pro42=)
| |
17 | g.42536397C>G | CA399595359 | NAGLU | c.125C>G (p.Pro42Arg)
| gnomAD v4 |
17 | g.42536397C>T | CA399595360 | NAGLU | c.125C>T (p.Pro42Leu)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536398A= | CA2260526726 | NAGLU | c.126A= (p.Pro42=)
| |
17 | g.42536398A>C | CA500215900 | NAGLU | c.126A>C (p.Pro42=)
| |
17 | g.42536398A>G | CA500215902 | NAGLU | c.126A>G (p.Pro42=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536398A>T | CA500215904 | NAGLU | c.126A>T (p.Pro42=)
| gnomAD v4 |
17 | g.42536399G>A | CA399595361 | NAGLU | c.127G>A (p.Gly43Ser)
| gnomAD v4 |
17 | g.42536399G>C | CA399595362 | NAGLU | c.127G>C (p.Gly43Arg)
| gnomAD v4 |
17 | g.42536399G>T | CA399595363 | NAGLU | c.127G>T (p.Gly43Cys)
| dbSNP gnomAD v4 |
17 | g.42536400G>A | CA399595364 | NAGLU | c.128G>A (p.Gly43Asp)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536400G>C | CA399595365 | NAGLU | c.128G>C (p.Gly43Ala)
| |
17 | g.42536400G= | CA2260526727 | NAGLU | c.128G= (p.Gly43=)
| |
17 | g.42536400G>T | CA399595366 | NAGLU | c.128G>T (p.Gly43Val)
| gnomAD v4 |
17 | g.42536401C>A | CA500215909 | NAGLU | c.129C>A (p.Gly43=)
| ClinVar gnomAD v4 |
17 | g.42536401C>G | CA500215908 | NAGLU | c.129C>G (p.Gly43=)
| |
17 | g.42536401C>T | CA500215907 | NAGLU | c.129C>T (p.Gly43=)
| gnomAD v4 |
17 | g.42536404del | CA2637965761 | NAGLU | c.132del (p.Ala45ArgfsTer?)
| gnomAD v4 |
17 | g.42536402C>A | CA399595369 | NAGLU | c.130C>A (p.Pro44Thr)
| gnomAD v4 |
17 | g.42536402C>G | CA399595368 | NAGLU | c.130C>G (p.Pro44Ala)
| |
17 | g.42536402C>T | CA399595367 | NAGLU | c.130C>T (p.Pro44Ser)
| gnomAD v4 |
17 | g.42536403C>A | CA399595370 | NAGLU | c.131C>A (p.Pro44His)
| gnomAD v4 |
17 | g.42536403C>G | CA399595371 | NAGLU | c.131C>G (p.Pro44Arg)
| gnomAD v4 |
17 | g.42536403C>T | CA399595372 | NAGLU | c.131C>T (p.Pro44Leu)
| gnomAD v4 |
17 | g.42536404C>A | CA500215916 | NAGLU | c.132C>A (p.Pro44=)
| ClinVar gnomAD v4 |
17 | g.42536404C= | CA2260526728 | NAGLU | c.132C= (p.Pro44=)
| |
17 | g.42536404C>G | CA500215920 | NAGLU | c.132C>G (p.Pro44=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536404C>T | CA500215914 | NAGLU | c.132C>T (p.Pro44=)
| gnomAD v4 |
17 | g.42536404_42536405insT | CA2637965770 | NAGLU | c.132_133insT (p.Ala45CysfsTer?)
| gnomAD v4 |
17 | g.42536405G>A | CA399595373 | NAGLU | c.133G>A (p.Ala45Thr)
| gnomAD v4 |
17 | g.42536405G>C | CA399595374 | NAGLU | c.133G>C (p.Ala45Pro)
| gnomAD v4 |
17 | g.42536405G>T | CA399595375 | NAGLU | c.133G>T (p.Ala45Ser)
| gnomAD v4 |
17 | g.42536406C>A | CA399595376 | NAGLU | c.134C>A (p.Ala45Glu)
| gnomAD v4 |
17 | g.42536406C= | CA2260526729 | NAGLU | c.134C= (p.Ala45=)
| |
17 | g.42536406C>G | CA399595377 | NAGLU | c.134C>G (p.Ala45Gly)
| gnomAD v4 |
17 | g.42536406C>T | CA399595378 | NAGLU | c.134C>T (p.Ala45Val)
| dbSNP gnomAD v4 |
17 | g.42536407G>A | CA500215926 | NAGLU | c.135G>A (p.Ala45=)
| dbSNP gnomAD v4 |
17 | g.42536407G>C | CA500215924 | NAGLU | c.135G>C (p.Ala45=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536407G= | CA2260526730 | NAGLU | c.135G= (p.Ala45=)
| |
17 | g.42536407G>T | CA500215929 | NAGLU | c.135G>T (p.Ala45=)
| gnomAD v4 |
17 | g.42536408del | CA2499224327 | NAGLU | c.136del (p.Ala46ProfsTer?)
| ClinVar dbSNP |
17 | g.42536408G>A | CA399595379 | NAGLU | c.136G>A (p.Ala46Thr)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536408G>C | CA399595380 | NAGLU | c.136G>C (p.Ala46Pro)
| gnomAD v4 |
17 | g.42536408G= | CA2260526731 | NAGLU | c.136G= (p.Ala46=)
| |
17 | g.42536408G>T | CA399595382 | NAGLU | c.136G>T (p.Ala46Ser)
| gnomAD v4 |
17 | g.42536409C>A | CA399595384 | NAGLU | c.137C>A (p.Ala46Asp)
| dbSNP gnomAD v4 |
17 | g.42536409C= | CA2260526732 | NAGLU | c.137C= (p.Ala46=)
| |
17 | g.42536409C>G | CA399595386 | NAGLU | c.137C>G (p.Ala46Gly)
| gnomAD v4 |
17 | g.42536409C>T | CA399595387 | NAGLU | c.137C>T (p.Ala46Val)
| gnomAD v4 |
17 | g.42536410C>A | CA500215932 | NAGLU | c.138C>A (p.Ala46=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536410C>G | CA500215935 | NAGLU | c.138C>G (p.Ala46=)
| gnomAD v4 |
17 | g.42536410C>T | CA500215934 | NAGLU | c.138C>T (p.Ala46=)
| gnomAD v4 |
17 | g.42536411G>A | CA399595390 | NAGLU | c.139G>A (p.Asp47Asn)
| gnomAD v4 |
17 | g.42536411G>C | CA399595392 | NAGLU | c.139G>C (p.Asp47His)
| gnomAD v4 |
17 | g.42536411G>T | CA399595388 | NAGLU | c.139G>T (p.Asp47Tyr)
| gnomAD v4 |
17 | g.42536412A>C | CA399595393 | NAGLU | c.140A>C (p.Asp47Ala)
| |
17 | g.42536412A>G | CA399595394 | NAGLU | c.140A>G (p.Asp47Gly)
| gnomAD v4 |
17 | g.42536412A>T | CA399595395 | NAGLU | c.140A>T (p.Asp47Val)
| gnomAD v4 |
17 | g.42536413C>A | CA399595396 | NAGLU | c.141C>A (p.Asp47Glu)
| gnomAD v4 |
17 | g.42536413C>G | CA399595398 | NAGLU | c.141C>G (p.Asp47Glu)
| gnomAD v4 |
17 | g.42536413C>T | CA500215943 | NAGLU | c.141C>T (p.Asp47=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536415_42536417del | CA2637965802 | NAGLU | c.143_145del (p.Phe48del)
| gnomAD v4 |
17 | g.42536414T>A | CA399595401 | NAGLU | c.142T>A (p.Phe48Ile)
| |
17 | g.42536414T>C | CA115052 | NAGLU | c.142T>C (p.Phe48Leu)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536414T>G | CA399595404 | NAGLU | c.142T>G (p.Phe48Val)
| |
17 | g.42536414T= | CA2260526733 | NAGLU | c.142T= (p.Phe48=)
| |
17 | g.42536415T>A | CA399595405 | NAGLU | c.143T>A (p.Phe48Tyr)
| |
17 | g.42536415T>C | CA399595406 | NAGLU | c.143T>C (p.Phe48Ser)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536415T>G | CA290771264 | NAGLU | c.143T>G (p.Phe48Cys)
| dbSNP gnomAD v4 |
17 | g.42536415T= | CA2260526734 | NAGLU | c.143T= (p.Phe48=)
| |
17 | g.42536415_42536418delinsTCTC | CA2260526735 | NAGLU | c.143_146delinsTCTC (p.Phe48=)
| |
17 | g.42536416C>A | CA290771267 | NAGLU | c.144C>A (p.Phe48Leu)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536416C= | CA2260526736 | NAGLU | c.144C= (p.Phe48=)
| |
17 | g.42536416C>G | CA399595410 | NAGLU | c.144C>G (p.Phe48Leu)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536416C>T | CA500215951 | NAGLU | c.144C>T (p.Phe48=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536417_42536419del | CA983827601 | NAGLU | c.145_147del (p.Ser49del)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536417T>A | CA399595414 | NAGLU | c.145T>A (p.Ser49Thr)
| |
17 | g.42536417T>C | CA399595412 | NAGLU | c.145T>C (p.Ser49Pro)
| gnomAD v4 |
17 | g.42536417T>G | CA290771270 | NAGLU | c.145T>G (p.Ser49Ala)
| dbSNP |
17 | g.42536417T= | CA2260526737 | NAGLU | c.145T= (p.Ser49=)
| |
17 | g.42536418C>A | CA399595416 | NAGLU | c.146C>A (p.Ser49Tyr)
| gnomAD v4 |
17 | g.42536418C= | CA2260526738 | NAGLU | c.146C= (p.Ser49=)
| |
17 | g.42536418C>G | CA399595418 | NAGLU | c.146C>G (p.Ser49Cys)
| gnomAD v4 |
17 | g.42536418C>T | CA290771275 | NAGLU | c.146C>T (p.Ser49Phe)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536419del | CA2580093754 | NAGLU | c.147del (p.Val50CysfsTer?)
| ClinVar |
17 | g.42536419C>A | CA500215957 | NAGLU | c.147C>A (p.Ser49=)
| gnomAD v4 |
17 | g.42536419C= | CA2260526739 | NAGLU | c.147C= (p.Ser49=)
| |
17 | g.42536419C>G | CA500215960 | NAGLU | c.147C>G (p.Ser49=)
| ClinVar dbSNP |
17 | g.42536419C>T | CA500215964 | NAGLU | c.147C>T (p.Ser49=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536420G>A | CA399595421 | NAGLU | c.148G>A (p.Val50Met)
| gnomAD v4 |
17 | g.42536420G>C | CA399595423 | NAGLU | c.148G>C (p.Val50Leu)
| ClinVar gnomAD v4 |
17 | g.42536420G>T | CA399595425 | NAGLU | c.148G>T (p.Val50Leu)
| gnomAD v4 |
17 | g.42536421T>A | CA399595428 | NAGLU | c.149T>A (p.Val50Glu)
| |
17 | g.42536421T>C | CA399595430 | NAGLU | c.149T>C (p.Val50Ala)
| gnomAD v4 |
17 | g.42536421T>G | CA399595431 | NAGLU | c.149T>G (p.Val50Gly)
| |
17 | g.42536422G>A | CA500215969 | NAGLU | c.150G>A (p.Val50=)
| gnomAD v4 |
17 | g.42536422G>C | CA500215971 | NAGLU | c.150G>C (p.Val50=)
| dbSNP |
17 | g.42536422G= | CA2260526740 | NAGLU | c.150G= (p.Val50=)
| |
17 | g.42536422G>T | CA500215970 | NAGLU | c.150G>T (p.Val50=)
| gnomAD v4 |
17 | g.42536423T>A | CA399595434 | NAGLU | c.151T>A (p.Ser51Thr)
| |
17 | g.42536423T>C | CA290771280 | NAGLU | c.151T>C (p.Ser51Pro)
| dbSNP gnomAD v4 |
17 | g.42536423T>G | CA399595436 | NAGLU | c.151T>G (p.Ser51Ala)
| |
17 | g.42536423T= | CA2260526741 | NAGLU | c.151T= (p.Ser51=)
| |
17 | g.42536424C>A | CA399595439 | NAGLU | c.152C>A (p.Ser51Ter)
| gnomAD v4 |
17 | g.42536424C= | CA2260526742 | NAGLU | c.152C= (p.Ser51=)
| |
17 | g.42536424C>G | CA399595442 | NAGLU | c.152C>G (p.Ser51Trp)
| |
17 | g.42536424C>T | CA399595440 | NAGLU | c.152C>T (p.Ser51Leu)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536425G>A | CA500215982 | NAGLU | c.153G>A (p.Ser51=)
| gnomAD v4 |
17 | g.42536425G>C | CA500215980 | NAGLU | c.153G>C (p.Ser51=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536425G>T | CA500215981 | NAGLU | c.153G>T (p.Ser51=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536426G>A | CA238574 | NAGLU | c.154G>A (p.Val52Met)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536426G>C | CA399595446 | NAGLU | c.154G>C (p.Val52Leu)
| gnomAD v4 |
17 | g.42536426G= | CA2260526743 | NAGLU | c.154G= (p.Val52=)
| |
17 | g.42536426G>T | CA399595445 | NAGLU | c.154G>T (p.Val52Leu)
| gnomAD v4 |
17 | g.42536427T>A | CA399595449 | NAGLU | c.155T>A (p.Val52Glu)
| gnomAD v4 |
17 | g.42536427T>C | CA399595451 | NAGLU | c.155T>C (p.Val52Ala)
| gnomAD v4 |
17 | g.42536427T>G | CA399595452 | NAGLU | c.155T>G (p.Val52Gly)
| |
17 | g.42536428G>A | CA500215987 | NAGLU | c.156G>A (p.Val52=)
| gnomAD v4 |
17 | g.42536428G>C | CA500215988 | NAGLU | c.156G>C (p.Val52=)
| gnomAD v4 |
17 | g.42536428G= | CA2260526744 | NAGLU | c.156G= (p.Val52=)
| |
17 | g.42536428G>T | CA500215986 | NAGLU | c.156G>T (p.Val52=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536429G>A | CA399595454 | NAGLU | c.157G>A (p.Glu53Lys)
| gnomAD v4 |
17 | g.42536429G>C | CA399595456 | NAGLU | c.157G>C (p.Glu53Gln)
| gnomAD v4 |
17 | g.42536429G>T | CA399595458 | NAGLU | c.157G>T (p.Glu53Ter)
| gnomAD v4 |
17 | g.42536430A>C | CA399595459 | NAGLU | c.158A>C (p.Glu53Ala)
| gnomAD v4 |
17 | g.42536430A>G | CA399595461 | NAGLU | c.158A>G (p.Glu53Gly)
| gnomAD v4 |
17 | g.42536430A>T | CA399595462 | NAGLU | c.158A>T (p.Glu53Val)
| gnomAD v4 |
17 | g.42536431G>A | CA290771298 | NAGLU | c.159G>A (p.Glu53=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536431G>C | CA399595464 | NAGLU | c.159G>C (p.Glu53Asp)
| |
17 | g.42536431G= | CA2260526745 | NAGLU | c.159G= (p.Glu53=)
| |
17 | g.42536431G>T | CA399595466 | NAGLU | c.159G>T (p.Glu53Asp)
| gnomAD v4 |
17 | g.42536432C>A | CA399595472 | NAGLU | c.160C>A (p.Arg54Ser)
| gnomAD v4 |
17 | g.42536432C>G | CA399595468 | NAGLU | c.160C>G (p.Arg54Gly)
| gnomAD v4 |
17 | g.42536432C>T | CA399595471 | NAGLU | c.160C>T (p.Arg54Cys)
| gnomAD v4 |
17 | g.42536433G>A | CA399595473 | NAGLU | c.161G>A (p.Arg54His)
| gnomAD v4 |
17 | g.42536433G>C | CA399595475 | NAGLU | c.161G>C (p.Arg54Pro)
| gnomAD v4 |
17 | g.42536433G>T | CA399595477 | NAGLU | c.161G>T (p.Arg54Leu)
| gnomAD v4 |
17 | g.42536434C>A | CA500215997 | NAGLU | c.162C>A (p.Arg54=)
| gnomAD v4 |
17 | g.42536434C>G | CA500215999 | NAGLU | c.162C>G (p.Arg54=)
| gnomAD v4 |
17 | g.42536434C>T | CA500215998 | NAGLU | c.162C>T (p.Arg54=)
| gnomAD v4 |
17 | g.42536435G>A | CA399595478 | NAGLU | c.163G>A (p.Ala55Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536435G>C | CA399595480 | NAGLU | c.163G>C (p.Ala55Pro)
| |
17 | g.42536435G= | CA2260526746 | NAGLU | c.163G= (p.Ala55=)
| |
17 | g.42536435G>T | CA399595482 | NAGLU | c.163G>T (p.Ala55Ser)
| gnomAD v4 |
17 | g.42536436C>A | CA399595484 | NAGLU | c.164C>A (p.Ala55Asp)
| gnomAD v4 |
17 | g.42536436C= | CA2260526747 | NAGLU | c.164C= (p.Ala55=)
| |
17 | g.42536436C>G | CA399595486 | NAGLU | c.164C>G (p.Ala55Gly)
| gnomAD v4 |
17 | g.42536436C>T | CA399595488 | NAGLU | c.164C>T (p.Ala55Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536437T>A | CA500216005 | NAGLU | c.165T>A (p.Ala55=)
| |
17 | g.42536437T>C | CA500216004 | NAGLU | c.165T>C (p.Ala55=)
| ClinVar gnomAD v4 |
17 | g.42536437T>G | CA500216006 | NAGLU | c.165T>G (p.Ala55=)
| |
17 | g.42536438C>A | CA399595490 | NAGLU | c.166C>A (p.Leu56Met)
| gnomAD v4 |
17 | g.42536438C>G | CA399595491 | NAGLU | c.166C>G (p.Leu56Val)
| |
17 | g.42536438C>T | CA500216007 | NAGLU | c.166C>T (p.Leu56=)
| gnomAD v4 |
17 | g.42536439T>A | CA399595495 | NAGLU | c.167T>A (p.Leu56Gln)
| gnomAD v4 |
17 | g.42536439T>C | CA399595497 | NAGLU | c.167T>C (p.Leu56Pro)
| gnomAD v4 |
17 | g.42536439T>G | CA399595494 | NAGLU | c.167T>G (p.Leu56Arg)
| |
17 | g.42536440G>A | CA500216014 | NAGLU | c.168G>A (p.Leu56=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536440G>C | CA500216011 | NAGLU | c.168G>C (p.Leu56=)
| ClinVar dbSNP |
17 | g.42536440G= | CA2260526748 | NAGLU | c.168G= (p.Leu56=)
| |
17 | g.42536440G>T | CA500216012 | NAGLU | c.168G>T (p.Leu56=)
| gnomAD v4 |
17 | g.42536441del | CA2637965884 | NAGLU | c.169del (p.Ala57LeufsTer?)
| gnomAD v4 |
17 | g.42536441G>A | CA399595500 | NAGLU | c.169G>A (p.Ala57Thr)
| gnomAD v4 |
17 | g.42536441G>C | CA399595501 | NAGLU | c.169G>C (p.Ala57Pro)
| |
17 | g.42536441G>T | CA399595503 | NAGLU | c.169G>T (p.Ala57Ser)
| gnomAD v4 |
17 | g.42536442C>A | CA399595506 | NAGLU | c.170C>A (p.Ala57Asp)
| gnomAD v4 |
17 | g.42536442C= | CA2260526749 | NAGLU | c.170C= (p.Ala57=)
| |
17 | g.42536442C>G | CA10639696 | NAGLU | c.170C>G (p.Ala57Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536442C>T | CA399595508 | NAGLU | c.170C>T (p.Ala57Val)
| dbSNP gnomAD v4 |
17 | g.42536443_42536446dup | CA2695226049 | NAGLU | c.171_174dup (p.Lys59CysfsTer?)
| |
17 | g.42536443T>A | CA500216022 | NAGLU | c.171T>A (p.Ala57=)
| gnomAD v4 |
17 | g.42536443T>C | CA500216021 | NAGLU | c.171T>C (p.Ala57=)
| gnomAD v4 |
17 | g.42536443T>G | CA500216023 | NAGLU | c.171T>G (p.Ala57=)
| |
17 | g.42536444G>A | CA290771313 | NAGLU | c.172G>A (p.Ala58Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536444G>C | CA399595511 | NAGLU | c.172G>C (p.Ala58Pro)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536444G= | CA2260526750 | NAGLU | c.172G= (p.Ala58=)
| |
17 | g.42536444G>T | CA399595513 | NAGLU | c.172G>T (p.Ala58Ser)
| gnomAD v4 |
17 | g.42536445C>A | CA399595514 | NAGLU | c.173C>A (p.Ala58Asp)
| gnomAD v4 |
17 | g.42536445C= | CA2260526751 | NAGLU | c.173C= (p.Ala58=)
| |
17 | g.42536445C>G | CA399595516 | NAGLU | c.173C>G (p.Ala58Gly)
| gnomAD v4 |
17 | g.42536445C>T | CA399595518 | NAGLU | c.173C>T (p.Ala58Val)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536446del | CA2637965915 | NAGLU | c.174del (p.Lys59SerfsTer?)
| gnomAD v4 |
17 | g.42536446C>A | CA500216029 | NAGLU | c.174C>A (p.Ala58=)
| gnomAD v4 |
17 | g.42536446C>G | CA500216031 | NAGLU | c.174C>G (p.Ala58=)
| |
17 | g.42536446C>T | CA500216030 | NAGLU | c.174C>T (p.Ala58=)
| gnomAD v4 |
17 | g.42536447A>C | CA399595522 | NAGLU | c.175A>C (p.Lys59Gln)
| |
17 | g.42536447A>G | CA399595524 | NAGLU | c.175A>G (p.Lys59Glu)
| gnomAD v4 |
17 | g.42536447A>T | CA399595520 | NAGLU | c.175A>T (p.Lys59Ter)
| |
17 | g.42536448A= | CA2260526752 | NAGLU | c.176A= (p.Lys59=)
| |
17 | g.42536448A>C | CA399595527 | NAGLU | c.176A>C (p.Lys59Thr)
| |
17 | g.42536448A>G | CA399595528 | NAGLU | c.176A>G (p.Lys59Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536448A>T | CA399595529 | NAGLU | c.176A>T (p.Lys59Met)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536449G>A | CA500216039 | NAGLU | c.177G>A (p.Lys59=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536449G>C | CA399595531 | NAGLU | c.177G>C (p.Lys59Asn)
| gnomAD v4 |
17 | g.42536449G= | CA2260526753 | NAGLU | c.177G= (p.Lys59=)
| |
17 | g.42536449G>T | CA399595533 | NAGLU | c.177G>T (p.Lys59Asn)
| dbSNP gnomAD v4 |
17 | g.42536450C>A | CA399595536 | NAGLU | c.178C>A (p.Pro60Thr)
| gnomAD v4 |
17 | g.42536450C>G | CA399595535 | NAGLU | c.178C>G (p.Pro60Ala)
| gnomAD v4 |
17 | g.42536450C>T | CA399595534 | NAGLU | c.178C>T (p.Pro60Ser)
| gnomAD v4 |
17 | g.42536451del | CA2695226050 | NAGLU | c.179del (p.Pro60ArgfsTer?)
| |
17 | g.42536451C>A | CA399595538 | NAGLU | c.179C>A (p.Pro60Gln)
| gnomAD v4 |
17 | g.42536451C>G | CA399595539 | NAGLU | c.179C>G (p.Pro60Arg)
| gnomAD v4 |
17 | g.42536451C>T | CA399595540 | NAGLU | c.179C>T (p.Pro60Leu)
| gnomAD v4 |
17 | g.42536452G>A | CA500216051 | NAGLU | c.180G>A (p.Pro60=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536452G>C | CA500216052 | NAGLU | c.180G>C (p.Pro60=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536452G= | CA2260526754 | NAGLU | c.180G= (p.Pro60=)
| |
17 | g.42536452G>T | CA500216049 | NAGLU | c.180G>T (p.Pro60=)
| gnomAD v4 |
17 | g.42536454del | CA2637965956 | NAGLU | c.182del (p.Gly61AlafsTer?)
| gnomAD v4 |
17 | g.42536453G>A | CA399595542 | NAGLU | c.181G>A (p.Gly61Ser)
| dbSNP gnomAD v4 |
17 | g.42536453G>C | CA399595544 | NAGLU | c.181G>C (p.Gly61Arg)
| gnomAD v4 |
17 | g.42536453G= | CA2260526755 | NAGLU | c.181G= (p.Gly61=)
| |
17 | g.42536453G>T | CA399595545 | NAGLU | c.181G>T (p.Gly61Cys)
| gnomAD v4 |
17 | g.42536454G>A | CA399595547 | NAGLU | c.182G>A (p.Gly61Asp)
| gnomAD v4 |
17 | g.42536454G>C | CA399595550 | NAGLU | c.182G>C (p.Gly61Ala)
| |
17 | g.42536454G>T | CA399595549 | NAGLU | c.182G>T (p.Gly61Val)
| gnomAD v4 |
17 | g.42536455C>A | CA500216059 | NAGLU | c.183C>A (p.Gly61=)
| ClinVar gnomAD v4 |
17 | g.42536455C>G | CA500216055 | NAGLU | c.183C>G (p.Gly61=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536455C>T | CA500216056 | NAGLU | c.183C>T (p.Gly61=)
| gnomAD v4 |
17 | g.42536456T>A | CA399595553 | NAGLU | c.184T>A (p.Leu62Met)
| gnomAD v4 |
17 | g.42536456T>C | CA500216060 | NAGLU | c.184T>C (p.Leu62=)
| ClinVar gnomAD v4 |
17 | g.42536456T>G | CA399595554 | NAGLU | c.184T>G (p.Leu62Val)
| |
17 | g.42536457T>A | CA399595556 | NAGLU | c.185T>A (p.Leu62Ter)
| gnomAD v4 |
17 | g.42536457T>C | CA399595559 | NAGLU | c.185T>C (p.Leu62Ser)
| gnomAD v4 |
17 | g.42536457T>G | CA399595558 | NAGLU | c.185T>G (p.Leu62Trp)
| |
17 | g.42536458G>A | CA500216063 | NAGLU | c.186G>A (p.Leu62=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536458G>C | CA399595560 | NAGLU | c.186G>C (p.Leu62Phe)
| |
17 | g.42536458G= | CA2260526756 | NAGLU | c.186G= (p.Leu62=)
| |
17 | g.42536458G>T | CA399595561 | NAGLU | c.186G>T (p.Leu62Phe)
| gnomAD v4 |
17 | g.42536459del | CA2637965986 | NAGLU | c.187del (p.Asp63ThrfsTer?)
| gnomAD v4 |
17 | g.42536459G>A | CA399595563 | NAGLU | c.187G>A (p.Asp63Asn)
| gnomAD v4 |
17 | g.42536459G>C | CA399595564 | NAGLU | c.187G>C (p.Asp63His)
| gnomAD v4 |
17 | g.42536459G>T | CA399595566 | NAGLU | c.187G>T (p.Asp63Tyr)
| gnomAD v4 |
17 | g.42536460A= | CA2260526757 | NAGLU | c.188A= (p.Asp63=)
| |
17 | g.42536460A>C | CA399595568 | NAGLU | c.188A>C (p.Asp63Ala)
| |
17 | g.42536460A>G | CA399595570 | NAGLU | c.188A>G (p.Asp63Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536460A>T | CA399595572 | NAGLU | c.188A>T (p.Asp63Val)
| |
17 | g.42536461C>A | CA399595573 | NAGLU | c.189C>A (p.Asp63Glu)
| gnomAD v4 |
17 | g.42536461C>G | CA399595574 | NAGLU | c.189C>G (p.Asp63Glu)
| gnomAD v4 |
17 | g.42536461C>T | CA500216067 | NAGLU | c.189C>T (p.Asp63=)
| gnomAD v4 |
17 | g.42536462del | CA2809524820 | NAGLU | c.190del (p.Thr64ProfsTer?)
| |
17 | g.42536462A>C | CA399595580 | NAGLU | c.190A>C (p.Thr64Pro)
| |
17 | g.42536462A>G | CA399595579 | NAGLU | c.190A>G (p.Thr64Ala)
| ClinVar gnomAD v4 |
17 | g.42536462A>T | CA399595577 | NAGLU | c.190A>T (p.Thr64Ser)
| gnomAD v4 |
17 | g.42536462_42536463delinsAC | CA2260526758 | NAGLU | c.190_191delinsAC (p.Thr64=)
| |
17 | g.42536464_42536467del | CA2637965988 | NAGLU | c.192_195del (p.Tyr65AlafsTer?)
| gnomAD v4 |
17 | g.42536463C>A | CA399595583 | NAGLU | c.191C>A (p.Thr64Asn)
| gnomAD v4 |
17 | g.42536463C>G | CA399595584 | NAGLU | c.191C>G (p.Thr64Ser)
| gnomAD v4 |
17 | g.42536463C>T | CA399595585 | NAGLU | c.191C>T (p.Thr64Ile)
| gnomAD v4 |
17 | g.42536463_42536464insAGC | CA2637965995 | NAGLU | c.191_192insAGC (p.Thr64_Tyr65insAla)
| gnomAD v4 |
17 | g.42536464del | CA2260526759 | NAGLU | c.192del (p.Tyr65ThrfsTer?)
| ClinVar dbSNP |
17 | g.42536464C>A | CA500216075 | NAGLU | c.192C>A (p.Thr64=)
| gnomAD v4 |
17 | g.42536464C>G | CA500216077 | NAGLU | c.192C>G (p.Thr64=)
| |
17 | g.42536464C>T | CA500216074 | NAGLU | c.192C>T (p.Thr64=)
| ClinVar gnomAD v4 |
17 | g.42536464_42536465del | CA913012308 | NAGLU | c.192_193del (p.Tyr65GlnfsTer?)
| |
17 | g.42536464_42536465delinsCT | CA2260526760 | NAGLU | c.192_193delinsCT (p.Thr64=)
| |
17 | g.42536465del | CA658823941 | NAGLU | c.193del (p.Tyr65ThrfsTer?)
| ClinVar dbSNP |
17 | g.42536465T>A | CA399595586 | NAGLU | c.193T>A (p.Tyr65Asn)
| gnomAD v4 |
17 | g.42536465T>C | CA399595588 | NAGLU | c.193T>C (p.Tyr65His)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536465T>G | CA399595590 | NAGLU | c.193T>G (p.Tyr65Asp)
| |
17 | g.42536466A>C | CA399595592 | NAGLU | c.194A>C (p.Tyr65Ser)
| |
17 | g.42536466A>G | CA399595594 | NAGLU | c.194A>G (p.Tyr65Cys)
| gnomAD v4 |
17 | g.42536466A>T | CA399595596 | NAGLU | c.194A>T (p.Tyr65Phe)
| gnomAD v4 |
17 | g.42536467_42536468del | CA2637966015 | NAGLU | c.195_196del (p.Tyr65Ter)
| gnomAD v4 |
17 | g.42536467C>A | CA399595599 | NAGLU | c.195C>A (p.Tyr65Ter)
| gnomAD v4 |
17 | g.42536467C>G | CA399595600 | NAGLU | c.195C>G (p.Tyr65Ter)
| gnomAD v4 |
17 | g.42536467C>T | CA500216081 | NAGLU | c.195C>T (p.Tyr65=)
| gnomAD v4 |
17 | g.42536468A>C | CA399595604 | NAGLU | c.196A>C (p.Ser66Arg)
| |
17 | g.42536468A>G | CA399595606 | NAGLU | c.196A>G (p.Ser66Gly)
| gnomAD v4 |
17 | g.42536468A>T | CA399595603 | NAGLU | c.196A>T (p.Ser66Cys)
| ClinVar |
17 | g.42536469G>A | CA399595609 | NAGLU | c.197G>A (p.Ser66Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536469G>C | CA399595610 | NAGLU | c.197G>C (p.Ser66Thr)
| |
17 | g.42536469G= | CA2260526761 | NAGLU | c.197G= (p.Ser66=)
| |
17 | g.42536469G>T | CA290771318 | NAGLU | c.197G>T (p.Ser66Ile)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536470C>A | CA399595613 | NAGLU | c.198C>A (p.Ser66Arg)
| gnomAD v4 |
17 | g.42536470C= | CA2260526762 | NAGLU | c.198C= (p.Ser66=)
| |
17 | g.42536470C>G | CA399595615 | NAGLU | c.198C>G (p.Ser66Arg)
| |
17 | g.42536470C>T | CA500216087 | NAGLU | c.198C>T (p.Ser66=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536471C>A | CA399595617 | NAGLU | c.199C>A (p.Leu67Met)
| gnomAD v4 |
17 | g.42536471C= | CA2260526763 | NAGLU | c.199C= (p.Leu67=)
| |
17 | g.42536471C>G | CA399595618 | NAGLU | c.199C>G (p.Leu67Val)
| |
17 | g.42536471C>T | CA290771328 | NAGLU | c.199C>T (p.Leu67=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536471_42536472insCTG | CA626218535 | NAGLU | c.199_200insCTG (p.Leu67delinsProVal)
| dbSNP gnomAD v2 |
17 | g.42536472T>A | CA399595620 | NAGLU | c.200T>A (p.Leu67Gln)
| gnomAD v4 |
17 | g.42536472T>C | CA399595622 | NAGLU | c.200T>C (p.Leu67Pro)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536472T>G | CA399595624 | NAGLU | c.200T>G (p.Leu67Arg)
| ClinVar gnomAD v4 |
17 | g.42536472T= | CA2260526764 | NAGLU | c.200T= (p.Leu67=)
| |
17 | g.42536473G>A | CA500216094 | NAGLU | c.201G>A (p.Leu67=)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536473G>C | CA500216091 | NAGLU | c.201G>C (p.Leu67=)
| |
17 | g.42536473G= | CA2260526766 | NAGLU | c.201G= (p.Leu67=)
| |
17 | g.42536473G>T | CA500216092 | NAGLU | c.201G>T (p.Leu67=)
| gnomAD v4 |
17 | g.42536475dup | CA913012309 | NAGLU | c.203dup (p.Gly69ArgfsTer?)
| |
17 | g.42536473_42536475dup | CA2637966056 | NAGLU | c.201_203dup (p.Gly68_Gly69insGly)
| gnomAD v4 |
17 | g.42536475del | CA2637966057 | NAGLU | c.203del (p.Gly68AlafsTer?)
| gnomAD v4 |
17 | g.42536473_42536476delinsGGGC | CA2260526765 | NAGLU | c.201_204delinsGGGC (p.Leu67=)
| |
17 | g.42536474G>A | CA399595626 | NAGLU | c.202G>A (p.Gly68Ser)
| ClinVar gnomAD v4 |
17 | g.42536474G>C | CA399595628 | NAGLU | c.202G>C (p.Gly68Arg)
| gnomAD v4 |
17 | g.42536474G= | CA2260526767 | NAGLU | c.202G= (p.Gly68=)
| |
17 | g.42536474G>T | CA399595630 | NAGLU | c.202G>T (p.Gly68Cys)
| gnomAD v4 |
17 | g.42536474_42536475insCCG | CA658823942 | NAGLU | c.202_203insCCG (p.Leu67_Gly68insAla)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536484_42536486dup | CA658823943 | NAGLU | c.212_214dup (p.Gly71_Ala72insGly)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536481_42536486dup | CA2580613137 | NAGLU | c.209_214dup (p.Gly71_Ala72insGlyGly)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536484_42536486del | CA500216095 | NAGLU | c.212_214del (p.Gly71del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536481_42536486del | CA2637966076 | NAGLU | c.209_214del (p.Gly70_Gly71del)
| gnomAD v4 |
17 | g.42536475G>A | CA290771335 | NAGLU | c.203G>A (p.Gly68Asp)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536475G>C | CA399595634 | NAGLU | c.203G>C (p.Gly68Ala)
| gnomAD v4 |
17 | g.42536475G= | CA2260526768 | NAGLU | c.203G= (p.Gly68=)
| |
17 | g.42536475G>T | CA399595632 | NAGLU | c.203G>T (p.Gly68Val)
| gnomAD v4 |
17 | g.42536476_42536477del | CA2637966089 | NAGLU | c.204_205del (p.Gly69ArgfsTer?)
| gnomAD v4 |
17 | g.42536481_42536491dup | CA983827663 | NAGLU | c.209_219dup (p.Arg74AlafsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536476del | CA2637966093 | NAGLU | c.204del (p.Gly69AlafsTer?)
| gnomAD v4 |
17 | g.42536476C>A | CA500216101 | NAGLU | c.204C>A (p.Gly68=)
| gnomAD v4 |
17 | g.42536476C= | CA2260526769 | NAGLU | c.204C= (p.Gly68=)
| |
17 | g.42536476C>G | CA500216098 | NAGLU | c.204C>G (p.Gly68=)
| gnomAD v4 |
17 | g.42536476C>T | CA500216100 | NAGLU | c.204C>T (p.Gly68=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536477G>A | CA399595638 | NAGLU | c.205G>A (p.Gly69Ser)
| gnomAD v4 |
17 | g.42536477G>C | CA399595639 | NAGLU | c.205G>C (p.Gly69Arg)
| |
17 | g.42536477G>T | CA399595640 | NAGLU | c.205G>T (p.Gly69Cys)
| gnomAD v4 |
17 | g.42536478G>A | CA290771341 | NAGLU | c.206G>A (p.Gly69Asp)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536478G>C | CA399595644 | NAGLU | c.206G>C (p.Gly69Ala)
| |
17 | g.42536478G= | CA2260526770 | NAGLU | c.206G= (p.Gly69=)
| |
17 | g.42536478G>T | CA399595645 | NAGLU | c.206G>T (p.Gly69Val)
| gnomAD v4 |
17 | g.42536479C>A | CA500216102 | NAGLU | c.207C>A (p.Gly69=)
| gnomAD v4 |
17 | g.42536479C= | CA2260526771 | NAGLU | c.207C= (p.Gly69=)
| |
17 | g.42536479C>G | CA500216103 | NAGLU | c.207C>G (p.Gly69=)
| gnomAD v4 |
17 | g.42536479C>T | CA500216104 | NAGLU | c.207C>T (p.Gly69=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536480G>A | CA399595647 | NAGLU | c.208G>A (p.Gly70Ser)
| gnomAD v4 |
17 | g.42536480G>C | CA399595649 | NAGLU | c.208G>C (p.Gly70Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536480G= | CA2260526773 | NAGLU | c.208G= (p.Gly70=)
| |
17 | g.42536480G>T | CA399595650 | NAGLU | c.208G>T (p.Gly70Cys)
| dbSNP gnomAD v4 |
17 | g.42536481dup | CA913012310 | NAGLU | c.209dup (p.Gly71ArgfsTer?)
| |
17 | g.42536480_42536504delinsGGCGGCGCGGCGCGCGTGCGGGTGC | CA2260526772 | NAGLU | c.208_232delinsGGCGGCGCGGCGCGCGTGCGGGTGC (p.Gly70=)
| |
17 | g.42536481G>A | CA399595653 | NAGLU | c.209G>A (p.Gly70Asp)
| gnomAD v4 |
17 | g.42536481G>C | CA399595654 | NAGLU | c.209G>C (p.Gly70Ala)
| |
17 | g.42536481G>T | CA399595656 | NAGLU | c.209G>T (p.Gly70Val)
| gnomAD v4 |
17 | g.42536489_42536493dup | CA658823944 | NAGLU | c.217_221dup (p.Val75ArgfsTer?)
| ClinVar dbSNP gnomAD v4 |
17 | g.42536489_42536493del | CA2637966120 | NAGLU | c.217_221del (p.Ala73ArgfsTer?)
| gnomAD v4 |
17 | g.42536486_42536509dup | CA983827698 | NAGLU | c.214_237dup (p.Gly79_Ser80insAlaAlaArgValArgValArgGly)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536486_42536509del | CA891844534 | NAGLU | c.214_237del (p.Ala72_Gly79del)
| ClinVar dbSNP |
17 | g.42536482C>A | CA500216111 | NAGLU | c.210C>A (p.Gly70=)
| gnomAD v4 |
17 | g.42536482C= | CA2260526774 | NAGLU | c.210C= (p.Gly70=)
| |
17 | g.42536482C>G | CA500216110 | NAGLU | c.210C>G (p.Gly70=)
| |
17 | g.42536482C>T | CA500216109 | NAGLU | c.210C>T (p.Gly70=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536483G>A | CA399595662 | NAGLU | c.211G>A (p.Gly71Ser)
| gnomAD v4 |
17 | g.42536483G>C | CA399595660 | NAGLU | c.211G>C (p.Gly71Arg)
| |
17 | g.42536483G>T | CA399595659 | NAGLU | c.211G>T (p.Gly71Cys)
| gnomAD v4 |
17 | g.42536484del | CA2637966127 | NAGLU | c.212del (p.Gly71AlafsTer?)
| gnomAD v4 |
17 | g.42536483_42536502delinsGGCGCGGCGCGCGTGCGGGT | CA2260526775 | NAGLU | c.211_230delinsGGCGCGGCGCGCGTGCGGGT (p.Gly71=)
| |
17 | g.42536484_42536503del | CA913012311 | NAGLU | c.212_231del (p.Gly71AlafsTer?)
| |