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This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42536226_42536242delinsGGGCCGCCCCACCCCCT | CA2260526609 | NAGLU | c.-47_-31delinsGGGCCGCCCCACCCCCT (n.-47_-31delinsGGGCCGCCCCACCCCCT) | |
| 17 | g.42536232_42536247del | CA983827467 | NAGLU | c.-41_-26del (n.-41_-26del) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536231_42536240del | CA626055659 | NAGLU | c.-42_-33del (n.-42_-33del) | dbSNP gnomAD v2 |
| 17 | g.42536241dup | CA772108916 | NAGLU | c.-32dup (n.-32dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42536241del | CA772108922 | NAGLU | c.-32del (n.-32del) | dbSNP gnomAD v4 |
| 17 | g.42536239C>A | CA2637965371 | NAGLU | c.-34C>A (n.-34C>A) | gnomAD v4 |
| 17 | g.42536239C= | CA2260526624 | NAGLU | c.-34C= (n.-34C=) | |
| 17 | g.42536239C>G | CA2260526625 | NAGLU | c.-34C>G (n.-34C>G) | dbSNP gnomAD v4 |
| 17 | g.42536240C>A | CA2637965375 | NAGLU | c.-33C>A (n.-33C>A) | gnomAD v4 |
| 17 | g.42536240C= | CA2260526626 | NAGLU | c.-33C= (n.-33C=) | |
| 17 | g.42536240C>G | CA290771077 | NAGLU | c.-33C>G (n.-33C>G) | dbSNP |
| 17 | g.42536240C>T | CA290771080 | NAGLU | c.-33C>T (n.-33C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536241C>A | CA2637965377 | NAGLU | c.-32C>A (n.-32C>A) | gnomAD v4 |
| 17 | g.42536241C= | CA2260526627 | NAGLU | c.-32C= (n.-32C=) | |
| 17 | g.42536241C>T | CA626055661 | NAGLU | c.-32C>T (n.-32C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42536242del | CA2637965378 | NAGLU | c.-31del (n.-31del) | gnomAD v4 |
| 17 | g.42536242T>C | CA2576295320 | NAGLU | c.-31T>C (n.-31T>C) | gnomAD v4 |
| 17 | g.42536242T>G | CA772108930 | NAGLU | c.-31T>G (n.-31T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536242T= | CA2260526628 | NAGLU | c.-31T= (n.-31T=) | |
| 17 | g.42536243G>A | CA8576697 | NAGLU | c.-30G>A (n.-30G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42536243G= | CA2260526629 | NAGLU | c.-30G= (n.-30G=) | |
| 17 | g.42536243G>T | CA2637965380 | NAGLU | c.-30G>T (n.-30G>T) | gnomAD v4 |
| 17 | g.42536244del | CA2637965379 | NAGLU | c.-29del (n.-29del) | gnomAD v4 |
| 17 | g.42536244G>A | CA2260526631 | NAGLU | c.-29G>A (n.-29G>A) | dbSNP gnomAD v4 |
| 17 | g.42536244G>C | CA2260526632 | NAGLU | c.-29G>C (n.-29G>C) | dbSNP |
| 17 | g.42536244G= | CA2260526630 | NAGLU | c.-29G= (n.-29G=) | |
| 17 | g.42536245C>A | CA2637965381 | NAGLU | c.-28C>A (n.-28C>A) | gnomAD v4 |
| 17 | g.42536245C>T | CA2637965382 | NAGLU | c.-28C>T (n.-28C>T) | gnomAD v4 |
| 17 | g.42536246C>A | CA290771086 | NAGLU | c.-27C>A (n.-27C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42536246C= | CA2260526633 | NAGLU | c.-27C= (n.-27C=) | |
| 17 | g.42536246C>G | CA290771096 | NAGLU | c.-27C>G (n.-27C>G) | dbSNP gnomAD v4 |
| 17 | g.42536246C>T | CA2260526634 | NAGLU | c.-27C>T (n.-27C>T) | dbSNP gnomAD v4 |
| 17 | g.42536247G>A | CA983827488 | NAGLU | c.-26G>A (n.-26G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536247G= | CA2260526635 | NAGLU | c.-26G= (n.-26G=) | |
| 17 | g.42536247G>T | CA2637965388 | NAGLU | c.-26G>T (n.-26G>T) | gnomAD v4 |
| 17 | g.42536249C>A | CA2637965389 | NAGLU | c.-24C>A (n.-24C>A) | gnomAD v4 |
| 17 | g.42536249C= | CA2260526636 | NAGLU | c.-24C= (n.-24C=) | |
| 17 | g.42536249C>G | CA2637965390 | NAGLU | c.-24C>G (n.-24C>G) | gnomAD v4 |
| 17 | g.42536249C>T | CA2260526637 | NAGLU | c.-24C>T (n.-24C>T) | dbSNP gnomAD v4 |
| 17 | g.42536251_42536252del | CA2576295321 | NAGLU | c.-22_-21del (n.-22_-21del) | |
| 17 | g.42536250G>A | CA2637965392 | NAGLU | c.-23G>A (n.-23G>A) | gnomAD v4 |
| 17 | g.42536250G>C | CA2260526639 | NAGLU | c.-23G>C (n.-23G>C) | dbSNP gnomAD v4 |
| 17 | g.42536250G= | CA2260526638 | NAGLU | c.-23G= (n.-23G=) | |
| 17 | g.42536250G>T | CA2741536693 | NAGLU | c.-23G>T (n.-23G>T) | |
| 17 | g.42536251C>A | CA772108933 | NAGLU | c.-22C>A (n.-22C>A) | dbSNP gnomAD v4 |
| 17 | g.42536251C= | CA2260526640 | NAGLU | c.-22C= (n.-22C=) | |
| 17 | g.42536251C>T | CA2637965395 | NAGLU | c.-22C>T (n.-22C>T) | gnomAD v4 |
| 17 | g.42536252G>A | CA2594070088 | NAGLU | c.-21G>A (n.-21G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536252G>C | CA772108935 | NAGLU | c.-21G>C (n.-21G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536252G= | CA2260526641 | NAGLU | c.-21G= (n.-21G=) | |
| 17 | g.42536252G>T | CA772108934 | NAGLU | c.-21G>T (n.-21G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536254del | CA2576295322 | NAGLU | c.-19del (n.-19del) | gnomAD v4 |
| 17 | g.42536253G>A | CA290771105 | NAGLU | c.-20G>A (n.-20G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536253G= | CA2260526642 | NAGLU | c.-20G= (n.-20G=) | |
| 17 | g.42536253G>T | CA2637965399 | NAGLU | c.-20G>T (n.-20G>T) | gnomAD v4 |
| 17 | g.42536254G>A | CA2637965401 | NAGLU | c.-19G>A (n.-19G>A) | gnomAD v4 |
| 17 | g.42536254G>C | CA2260526644 | NAGLU | c.-19G>C (n.-19G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536254G= | CA2260526643 | NAGLU | c.-19G= (n.-19G=) | |
| 17 | g.42536254G>T | CA2637965402 | NAGLU | c.-19G>T (n.-19G>T) | gnomAD v4 |
| 17 | g.42536255A>G | CA2637965404 | NAGLU | c.-18A>G (n.-18A>G) | gnomAD v4 |
| 17 | g.42536255_42536256delinsAC | CA2260526645 | NAGLU | c.-18_-17delinsAC (n.-18_-17delinsAC) | |
| 17 | g.42536256C>A | CA2576295323 | NAGLU | c.-17C>A (n.-17C>A) | |
| 17 | g.42536256C= | CA2260526646 | NAGLU | c.-17C= (n.-17C=) | |
| 17 | g.42536256C>G | CA290771112 | NAGLU | c.-17C>G (n.-17C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42536256C>T | CA772108939 | NAGLU | c.-17C>T (n.-17C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536258del | CA2260526647 | NAGLU | c.-15del (n.-15del) | dbSNP gnomAD v4 |
| 17 | g.42536257C>A | CA2260526649 | NAGLU | c.-16C>A (n.-16C>A) | dbSNP gnomAD v4 |
| 17 | g.42536257C= | CA2260526648 | NAGLU | c.-16C= (n.-16C=) | |
| 17 | g.42536257C>G | CA290771124 | NAGLU | c.-16C>G (n.-16C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536257C>T | CA2260526650 | NAGLU | c.-16C>T (n.-16C>T) | dbSNP |
| 17 | g.42536258C>A | CA2637965409 | NAGLU | c.-15C>A (n.-15C>A) | gnomAD v4 |
| 17 | g.42536258C= | CA2260526651 | NAGLU | c.-15C= (n.-15C=) | |
| 17 | g.42536258C>G | CA2637965410 | NAGLU | c.-15C>G (n.-15C>G) | gnomAD v4 |
| 17 | g.42536258C>T | CA626055662 | NAGLU | c.-15C>T (n.-15C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42536259G>A | CA2576295324 | NAGLU | c.-14G>A (n.-14G>A) | gnomAD v4 |
| 17 | g.42536259G>T | CA2637965412 | NAGLU | c.-14G>T (n.-14G>T) | gnomAD v4 |
| 17 | g.42536260C>A | CA2637965415 | NAGLU | c.-13C>A (n.-13C>A) | gnomAD v4 |
| 17 | g.42536260C>G | CA2637965414 | NAGLU | c.-13C>G (n.-13C>G) | gnomAD v4 |
| 17 | g.42536260C>T | CA2637965413 | NAGLU | c.-13C>T (n.-13C>T) | gnomAD v4 |
| 17 | g.42536261A= | CA2260526652 | NAGLU | c.-12A= (n.-12A=) | |
| 17 | g.42536261A>C | CA290771133 | NAGLU | c.-12A>C (n.-12A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42536261A>G | CA2576295325 | NAGLU | c.-12A>G (n.-12A>G) | gnomAD v4 |
| 17 | g.42536261A>T | CA2637965417 | NAGLU | c.-12A>T (n.-12A>T) | gnomAD v4 |
| 17 | g.42536262G>A | CA2260526654 | NAGLU | c.-11G>A (n.-11G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536262G>C | CA2733698679 | NAGLU | c.-11G>C (n.-11G>C) | dbSNP |
| 17 | g.42536262G= | CA2260526653 | NAGLU | c.-11G= (n.-11G=) | |
| 17 | g.42536262G>T | CA2637965422 | NAGLU | c.-11G>T (n.-11G>T) | gnomAD v4 |
| 17 | g.42536263G>A | CA290771137 | NAGLU | c.-10G>A (n.-10G>A) | dbSNP gnomAD v4 |
| 17 | g.42536263G>C | CA2576295326 | NAGLU | c.-10G>C (n.-10G>C) | gnomAD v4 |
| 17 | g.42536263G= | CA2260526655 | NAGLU | c.-10G= (n.-10G=) | |
| 17 | g.42536263G>T | CA2637965423 | NAGLU | c.-10G>T (n.-10G>T) | gnomAD v4 |
| 17 | g.42536264A= | CA2260526656 | NAGLU | c.-9A= (n.-9A=) | |
| 17 | g.42536264A>G | CA290771146 | NAGLU | c.-9A>G (n.-9A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42536264A>T | CA2637965425 | NAGLU | c.-9A>T (n.-9A>T) | gnomAD v4 |
| 17 | g.42536265C>A | CA2637965427 | NAGLU | c.-8C>A (n.-8C>A) | gnomAD v4 |
| 17 | g.42536265C>T | CA2637965428 | NAGLU | c.-8C>T (n.-8C>T) | gnomAD v4 |
| 17 | g.42536266T>C | CA2637965429 | NAGLU | c.-7T>C (n.-7T>C) | gnomAD v4 |
| 17 | g.42536266T>G | CA2576295327 | NAGLU | c.-7T>G (n.-7T>G) | |
| 17 | g.42536267G>A | CA2637965430 | NAGLU | c.-6G>A (n.-6G>A) | gnomAD v4 |
| 17 | g.42536267G>T | CA2637965431 | NAGLU | c.-6G>T (n.-6G>T) | dbSNP gnomAD v4 |
| 17 | g.42536268A>G | CA2637965433 | NAGLU | c.-5A>G (n.-5A>G) | gnomAD v4 |
| 17 | g.42536269G>A | CA626055663 | NAGLU | c.-4G>A (n.-4G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42536269G= | CA2260526657 | NAGLU | c.-4G= (n.-4G=) | |
| 17 | g.42536269G>T | CA399594809 | NAGLU | c.-4G>T (n.-4G>T) | dbSNP gnomAD v4 |
| 17 | g.42536270A= | CA2260526658 | NAGLU | c.-3A= (n.-3A=) | |
| 17 | g.42536270A>G | CA290771152 | NAGLU | c.-3A>G (n.-3A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536271C>A | CA2637965436 | NAGLU | c.-2C>A (n.-2C>A) | gnomAD v4 |
| 17 | g.42536271C>G | CA2576295328 | NAGLU | c.-2C>G (n.-2C>G) | gnomAD v4 |
| 17 | g.42536271C>T | CA2637965437 | NAGLU | c.-2C>T (n.-2C>T) | gnomAD v4 |
| 17 | g.42536271_42536272insGCCCCGAAACGTACGCCGTCACGTACGCAGGCCGCCCGAAGCGCA | CA2809524817 | NAGLU | c.-2_-1insGCCCCGAAACGTACGCCGTCACGTACGCAGGCCGCCCGAAGCGCA (n.-2_-1insGCCCCGAAACGTACGCCGTCACGTACGCAGGCCGCCCGAAGCGCA) | |
| 17 | g.42536272C>A | CA2637965439 | NAGLU | c.-1C>A (n.-1C>A) | gnomAD v4 |
| 17 | g.42536272C>G | CA2637965440 | NAGLU | c.-1C>G (n.-1C>G) | gnomAD v4 |
| 17 | g.42536272C>T | CA2637965441 | NAGLU | c.-1C>T (n.-1C>T) | gnomAD v4 |
| 17 | g.42536273A= | CA2260526659 | NAGLU | c.1A= (p.Met1=) | |
| 17 | g.42536273A>C | CA399594813 | NAGLU | c.1A>C (p.Met1Leu) | |
| 17 | g.42536273A>G | CA399594810 | NAGLU | c.1A>G (p.Met1Val) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536273A>T | CA399594811 | NAGLU | c.1A>T (p.Met1Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536274T>A | CA399594815 | NAGLU | c.2T>A (p.Met1Lys) | gnomAD v4 |
| 17 | g.42536274T>C | CA290771159 | NAGLU | c.2T>C (p.Met1Thr) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536274T>G | CA399594819 | NAGLU | c.2T>G (p.Met1Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42536274T= | CA2260526660 | NAGLU | c.2T= (p.Met1=) | |
| 17 | g.42536274dup | CA913012303 | NAGLU | c.2dup (p.Met1IlefsTer?) | |
| 17 | g.42536275G>A | CA399594823 | NAGLU | c.3G>A (p.Met1Ile) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536275G>C | CA399594825 | NAGLU | c.3G>C (p.Met1Ile) | |
| 17 | g.42536275G>T | CA399594826 | NAGLU | c.3G>T (p.Met1Ile) | gnomAD v4 |
| 17 | g.42536277_42536282dup | CA658823935 | NAGLU | c.5_10dup (p.Ala3_Val4insGluAla) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536275_42536292dup | CA2637965457 | NAGLU | c.3_20dup (p.Ala7_Ala8insGluAlaValAlaValAla) | gnomAD v4 |
| 17 | g.42536276G>A | CA399594828 | NAGLU | c.4G>A (p.Glu2Lys) | gnomAD v4 |
| 17 | g.42536276G>C | CA399594831 | NAGLU | c.4G>C (p.Glu2Gln) | |
| 17 | g.42536276G= | CA2260526661 | NAGLU | c.4G= (p.Glu2=) | |
| 17 | g.42536276G>T | CA399594833 | NAGLU | c.4G>T (p.Glu2Ter) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536277A= | CA2260526662 | NAGLU | c.5A= (p.Glu2=) | |
| 17 | g.42536277A>C | CA399594840 | NAGLU | c.5A>C (p.Glu2Ala) | |
| 17 | g.42536277A>G | CA290771162 | NAGLU | c.5A>G (p.Glu2Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536277A>T | CA399594837 | NAGLU | c.5A>T (p.Glu2Val) | gnomAD v4 |
| 17 | g.42536278G>A | CA500075392 | NAGLU | c.6G>A (p.Glu2=) | |
| 17 | g.42536278G>C | CA399594842 | NAGLU | c.6G>C (p.Glu2Asp) | gnomAD v4 |
| 17 | g.42536278G>T | CA399594845 | NAGLU | c.6G>T (p.Glu2Asp) | |
| 17 | g.42536287_42536292dup | CA290771179 | NAGLU | c.15_20dup (p.Ala7_Ala8insValAla) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42536287_42536292del | CA2637965475 | NAGLU | c.15_20del (p.Val6_Ala7del) | gnomAD v4 |
| 17 | g.42536286_42536303dup | CA983827519 | NAGLU | c.14_31dup (p.Val10_Gly11insAlaValAlaAlaAlaVal) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536279G>A | CA399594849 | NAGLU | c.7G>A (p.Ala3Thr) | |
| 17 | g.42536279G>C | CA399594881 | NAGLU | c.7G>C (p.Ala3Pro) | |
| 17 | g.42536279G= | CA2260526663 | NAGLU | c.7G= (p.Ala3=) | |
| 17 | g.42536279G>T | CA290771185 | NAGLU | c.7G>T (p.Ala3Ser) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536280C>A | CA399594886 | NAGLU | c.8C>A (p.Ala3Glu) | gnomAD v4 |
| 17 | g.42536280C= | CA2260526664 | NAGLU | c.8C= (p.Ala3=) | |
| 17 | g.42536280C>G | CA399594888 | NAGLU | c.8C>G (p.Ala3Gly) | dbSNP |
| 17 | g.42536280C>T | CA399594890 | NAGLU | c.8C>T (p.Ala3Val) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536281G>A | CA500075395 | NAGLU | c.9G>A (p.Ala3=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42536281G>C | CA500075393 | NAGLU | c.9G>C (p.Ala3=) | |
| 17 | g.42536281G= | CA2260526665 | NAGLU | c.9G= (p.Ala3=) | |
| 17 | g.42536281G>T | CA500075394 | NAGLU | c.9G>T (p.Ala3=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536283_42536285del | CA2809524818 | NAGLU | c.11_13del (p.Val4del) | |
| 17 | g.42536282G>A | CA399594894 | NAGLU | c.10G>A (p.Val4Met) | gnomAD v4 |
| 17 | g.42536282G>C | CA399594898 | NAGLU | c.10G>C (p.Val4Leu) | |
| 17 | g.42536282G>T | CA399594900 | NAGLU | c.10G>T (p.Val4Leu) | gnomAD v4 |
| 17 | g.42536283_42536287del | CA913012304 | NAGLU | c.11_15del (p.Val4GlyfsTer?) | |
| 17 | g.42536283_42536294dup | CA2260526666 | NAGLU | c.11_22dup (p.Ala7_Ala8insValAlaValAla) | dbSNP |
| 17 | g.42536283T>A | CA399594903 | NAGLU | c.11T>A (p.Val4Glu) | |
| 17 | g.42536283T>C | CA399594904 | NAGLU | c.11T>C (p.Val4Ala) | |
| 17 | g.42536283T>G | CA399594902 | NAGLU | c.11T>G (p.Val4Gly) | |
| 17 | g.42536283T= | CA2260526668 | NAGLU | c.11T= (p.Val4=) | |
| 17 | g.42536283dup | CA913012305 | NAGLU | c.11dup (p.Ala5GlyfsTer?) | |
| 17 | g.42536283_42536287delinsTGGCG | CA2260526667 | NAGLU | c.11_15delinsTGGCG (p.Val4=) | |
| 17 | g.42536284G>A | CA500215609 | NAGLU | c.12G>A (p.Val4=) | ClinVar gnomAD v4 |
| 17 | g.42536284G>C | CA500215610 | NAGLU | c.12G>C (p.Val4=) | |
| 17 | g.42536284G>T | CA500215608 | NAGLU | c.12G>T (p.Val4=) | gnomAD v4 |
| 17 | g.42536285del | CA2809524819 | NAGLU | c.13del (p.Ala5ArgfsTer?) | |
| 17 | g.42536285_42536288del | CA658823936 | NAGLU | c.13_16del (p.Ala5TrpfsTer?) | ClinVar dbSNP |
| 17 | g.42536292_42536303dup | CA658823937 | NAGLU | c.20_31dup (p.Val10_Gly11insAlaAlaAlaVal) | ClinVar dbSNP |
| 17 | g.42536285G>A | CA399594905 | NAGLU | c.13G>A (p.Ala5Thr) | gnomAD v4 |
| 17 | g.42536285G>C | CA399594906 | NAGLU | c.13G>C (p.Ala5Pro) | |
| 17 | g.42536285G>T | CA399594908 | NAGLU | c.13G>T (p.Ala5Ser) | gnomAD v4 |
| 17 | g.42536286C>A | CA399594909 | NAGLU | c.14C>A (p.Ala5Glu) | gnomAD v4 |
| 17 | g.42536286C= | CA2260526669 | NAGLU | c.14C= (p.Ala5=) | |
| 17 | g.42536286C>G | CA399594910 | NAGLU | c.14C>G (p.Ala5Gly) | |
| 17 | g.42536286C>T | CA399594911 | NAGLU | c.14C>T (p.Ala5Val) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536287G>A | CA500215614 | NAGLU | c.15G>A (p.Ala5=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536287G>C | CA500215613 | NAGLU | c.15G>C (p.Ala5=) | |
| 17 | g.42536287G= | CA2260526670 | NAGLU | c.15G= (p.Ala5=) | |
| 17 | g.42536287G>T | CA500215615 | NAGLU | c.15G>T (p.Ala5=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 17 | g.42536288G>A | CA399594912 | NAGLU | c.16G>A (p.Val6Met) | gnomAD v4 |
| 17 | g.42536288G>C | CA399594913 | NAGLU | c.16G>C (p.Val6Leu) | |
| 17 | g.42536288G>T | CA399594914 | NAGLU | c.16G>T (p.Val6Leu) | gnomAD v4 |
| 17 | g.42536289T>A | CA399594915 | NAGLU | c.17T>A (p.Val6Glu) | |
| 17 | g.42536289T>C | CA399594916 | NAGLU | c.17T>C (p.Val6Ala) | |
| 17 | g.42536289T>G | CA399594917 | NAGLU | c.17T>G (p.Val6Gly) | dbSNP |
| 17 | g.42536290G>A | CA500215619 | NAGLU | c.18G>A (p.Val6=) | ClinVar dbSNP |
| 17 | g.42536290G>C | CA500215621 | NAGLU | c.18G>C (p.Val6=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536290G= | CA2260526671 | NAGLU | c.18G= (p.Val6=) | |
| 17 | g.42536290G>T | CA500215620 | NAGLU | c.18G>T (p.Val6=) | gnomAD v4 |
| 17 | g.42536291del | CA2637965514 | NAGLU | c.19del (p.Ala7ProfsTer?) | gnomAD v4 |
| 17 | g.42536291G>A | CA399594920 | NAGLU | c.19G>A (p.Ala7Thr) | gnomAD v4 |
| 17 | g.42536291G>C | CA399594918 | NAGLU | c.19G>C (p.Ala7Pro) | |
| 17 | g.42536291G= | CA2260526672 | NAGLU | c.19G= (p.Ala7=) | |
| 17 | g.42536291G>T | CA399594919 | NAGLU | c.19G>T (p.Ala7Ser) | dbSNP gnomAD v4 |
| 17 | g.42536292C>A | CA399594921 | NAGLU | c.20C>A (p.Ala7Asp) | |
| 17 | g.42536292C>G | CA399594922 | NAGLU | c.20C>G (p.Ala7Gly) | |
| 17 | g.42536292C>T | CA399594923 | NAGLU | c.20C>T (p.Ala7Val) | gnomAD v4 |
| 17 | g.42536293C>A | CA500215629 | NAGLU | c.21C>A (p.Ala7=) | gnomAD v4 |
| 17 | g.42536293C= | CA2260526673 | NAGLU | c.21C= (p.Ala7=) | |
| 17 | g.42536293C>G | CA500215627 | NAGLU | c.21C>G (p.Ala7=) | ClinVar |
| 17 | g.42536293C>T | CA500215628 | NAGLU | c.21C>T (p.Ala7=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536294G>A | CA399594924 | NAGLU | c.22G>A (p.Ala8Thr) | gnomAD v4 |
| 17 | g.42536294G>C | CA399594925 | NAGLU | c.22G>C (p.Ala8Pro) | gnomAD v4 |
| 17 | g.42536294G>T | CA399594928 | NAGLU | c.22G>T (p.Ala8Ser) | gnomAD v4 |
| 17 | g.42536295C>A | CA399594932 | NAGLU | c.23C>A (p.Ala8Glu) | |
| 17 | g.42536295C= | CA2260526675 | NAGLU | c.23C= (p.Ala8=) | |
| 17 | g.42536295C>G | CA399594934 | NAGLU | c.23C>G (p.Ala8Gly) | gnomAD v4 |
| 17 | g.42536295C>T | CA399594936 | NAGLU | c.23C>T (p.Ala8Val) | dbSNP gnomAD v4 |
| 17 | g.42536295_42536301del | CA913012306 | NAGLU | c.23_29del (p.Ala8GlyfsTer?) | |
| 17 | g.42536295_42536301delinsCGGCGGT | CA2260526674 | NAGLU | c.23_29delinsCGGCGGT (p.Ala8=) | |
| 17 | g.42536296G>A | CA500215634 | NAGLU | c.24G>A (p.Ala8=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536296G>C | CA500215635 | NAGLU | c.24G>C (p.Ala8=) | gnomAD v4 |
| 17 | g.42536296G>T | CA500215636 | NAGLU | c.24G>T (p.Ala8=) | ClinVar gnomAD v4 |
| 17 | g.42536298_42536303del | CA658823938 | NAGLU | c.26_31del (p.Ala9_Val10del) | ClinVar dbSNP |
| 17 | g.42536296_42536307del | CA2576295329 | NAGLU | c.24_35del (p.Ala9_Val12del) | |
| 17 | g.42536297G>A | CA399594939 | NAGLU | c.25G>A (p.Ala9Thr) | dbSNP gnomAD v4 |
| 17 | g.42536297G>C | CA399594941 | NAGLU | c.25G>C (p.Ala9Pro) | |
| 17 | g.42536297G= | CA2260526676 | NAGLU | c.25G= (p.Ala9=) | |
| 17 | g.42536297G>T | CA399594943 | NAGLU | c.25G>T (p.Ala9Ser) | gnomAD v4 |
| 17 | g.42536298C>A | CA399594954 | NAGLU | c.26C>A (p.Ala9Glu) | gnomAD v4 |
| 17 | g.42536298C= | CA2260526677 | NAGLU | c.26C= (p.Ala9=) | |
| 17 | g.42536298C>G | CA399594951 | NAGLU | c.26C>G (p.Ala9Gly) | ClinVar dbSNP |
| 17 | g.42536298C>T | CA399594945 | NAGLU | c.26C>T (p.Ala9Val) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536299G>A | CA290771190 | NAGLU | c.27G>A (p.Ala9=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42536299G>C | CA500215640 | NAGLU | c.27G>C (p.Ala9=) | |
| 17 | g.42536299G= | CA2260526678 | NAGLU | c.27G= (p.Ala9=) | |
| 17 | g.42536299G>T | CA500215642 | NAGLU | c.27G>T (p.Ala9=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536300G>A | CA399594958 | NAGLU | c.28G>A (p.Val10Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536300G>C | CA399594962 | NAGLU | c.28G>C (p.Val10Leu) | ClinVar gnomAD v4 |
| 17 | g.42536300G= | CA2260526679 | NAGLU | c.28G= (p.Val10=) | |
| 17 | g.42536300G>T | CA399594960 | NAGLU | c.28G>T (p.Val10Leu) | dbSNP gnomAD v4 |
| 17 | g.42536301T>A | CA399594966 | NAGLU | c.29T>A (p.Val10Glu) | |
| 17 | g.42536301T>C | CA399594968 | NAGLU | c.29T>C (p.Val10Ala) | gnomAD v4 |
| 17 | g.42536301T>G | CA238572 | NAGLU | c.29T>G (p.Val10Gly) | ClinVar dbSNP |
| 17 | g.42536301T= | CA2260526680 | NAGLU | c.29T= (p.Val10=) | |
| 17 | g.42536302G>A | CA500215649 | NAGLU | c.30G>A (p.Val10=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42536302G>C | CA500215651 | NAGLU | c.30G>C (p.Val10=) | |
| 17 | g.42536302G= | CA2260526681 | NAGLU | c.30G= (p.Val10=) | |
| 17 | g.42536302G>T | CA500215650 | NAGLU | c.30G>T (p.Val10=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536306dup | CA2580093733 | NAGLU | c.34dup (p.Val12GlyfsTer?) | ClinVar gnomAD v4 |
| 17 | g.42536302_42536303insATCATATT | CA914177570 | NAGLU | c.30_31insATCATATT (p.Gly11IlefsTer?) | ClinVar dbSNP gnomAD v2 |
| 17 | g.42536303G>A | CA399594974 | NAGLU | c.31G>A (p.Gly11Arg) | gnomAD v4 |
| 17 | g.42536303G>C | CA399594976 | NAGLU | c.31G>C (p.Gly11Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536303G= | CA2260526682 | NAGLU | c.31G= (p.Gly11=) | |
| 17 | g.42536303G>T | CA399594978 | NAGLU | c.31G>T (p.Gly11Trp) | gnomAD v4 |
| 17 | g.42536304G>A | CA399594981 | NAGLU | c.32G>A (p.Gly11Glu) | gnomAD v4 |
| 17 | g.42536304G>C | CA399594983 | NAGLU | c.32G>C (p.Gly11Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42536304G= | CA2260526683 | NAGLU | c.32G= (p.Gly11=) | |
| 17 | g.42536304G>T | CA399594985 | NAGLU | c.32G>T (p.Gly11Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536305G>A | CA500215652 | NAGLU | c.33G>A (p.Gly11=) | |
| 17 | g.42536305G>C | CA500215653 | NAGLU | c.33G>C (p.Gly11=) | |
| 17 | g.42536305G>T | CA500215654 | NAGLU | c.33G>T (p.Gly11=) | gnomAD v4 |
| 17 | g.42536306G>A | CA399594989 | NAGLU | c.34G>A (p.Val12Ile) | gnomAD v4 |
| 17 | g.42536306G>C | CA399594991 | NAGLU | c.34G>C (p.Val12Leu) | gnomAD v4 |
| 17 | g.42536306G>T | CA399594993 | NAGLU | c.34G>T (p.Val12Phe) | gnomAD v4 |
| 17 | g.42536307T>A | CA399594997 | NAGLU | c.35T>A (p.Val12Asp) | gnomAD v4 |
| 17 | g.42536307T>C | CA399595001 | NAGLU | c.35T>C (p.Val12Ala) | gnomAD v4 |
| 17 | g.42536307T>G | CA399594999 | NAGLU | c.35T>G (p.Val12Gly) | dbSNP |
| 17 | g.42536309_42536312dup | CA2637965602 | NAGLU | c.37_40dup (p.Leu14ProfsTer?) | gnomAD v4 |
| 17 | g.42536308C>A | CA500215661 | NAGLU | c.36C>A (p.Val12=) | gnomAD v4 |
| 17 | g.42536308C= | CA2260526684 | NAGLU | c.36C= (p.Val12=) | |
| 17 | g.42536308C>G | CA500215662 | NAGLU | c.36C>G (p.Val12=) | |
| 17 | g.42536308C>T | CA500215659 | NAGLU | c.36C>T (p.Val12=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536309C>A | CA399595003 | NAGLU | c.37C>A (p.Leu13Ile) | gnomAD v4 |
| 17 | g.42536309C= | CA2260526685 | NAGLU | c.37C= (p.Leu13=) | |
| 17 | g.42536309C>G | CA399595005 | NAGLU | c.37C>G (p.Leu13Val) | gnomAD v4 |
| 17 | g.42536309C>T | CA290771208 | NAGLU | c.37C>T (p.Leu13Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536310T>A | CA399595009 | NAGLU | c.38T>A (p.Leu13His) | gnomAD v4 |
| 17 | g.42536310T>C | CA399595011 | NAGLU | c.38T>C (p.Leu13Pro) | |
| 17 | g.42536310T>G | CA399595013 | NAGLU | c.38T>G (p.Leu13Arg) | |
| 17 | g.42536311del | CA2637965611 | NAGLU | c.39del (p.Leu14SerfsTer?) | gnomAD v4 |
| 17 | g.42536310_42536311insC | CA2695226048 | NAGLU | c.38_39insC (p.Leu14SerfsTer?) | |
| 17 | g.42536311T>A | CA500215665 | NAGLU | c.39T>A (p.Leu13=) | |
| 17 | g.42536311T>C | CA500215664 | NAGLU | c.39T>C (p.Leu13=) | gnomAD v4 |
| 17 | g.42536311T>G | CA500215666 | NAGLU | c.39T>G (p.Leu13=) | ClinVar |
| 17 | g.42536312C>A | CA399595016 | NAGLU | c.40C>A (p.Leu14Ile) | ClinVar gnomAD v4 |
| 17 | g.42536312C>G | CA399595018 | NAGLU | c.40C>G (p.Leu14Val) | |
| 17 | g.42536312C>T | CA399595020 | NAGLU | c.40C>T (p.Leu14Phe) | gnomAD v4 |
| 17 | g.42536314_42536316del | CA2576295330 | NAGLU | c.42_44del (p.Leu15del) | |
| 17 | g.42536313T>A | CA399595036 | NAGLU | c.41T>A (p.Leu14His) | gnomAD v4 |
| 17 | g.42536313T>C | CA290771219 | NAGLU | c.41T>C (p.Leu14Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536313T>G | CA399595034 | NAGLU | c.41T>G (p.Leu14Arg) | |
| 17 | g.42536313T= | CA2260526686 | NAGLU | c.41T= (p.Leu14=) | |
| 17 | g.42536314C>A | CA500215670 | NAGLU | c.42C>A (p.Leu14=) | |
| 17 | g.42536314C= | CA2260526687 | NAGLU | c.42C= (p.Leu14=) | |
| 17 | g.42536314C>G | CA500215672 | NAGLU | c.42C>G (p.Leu14=) | dbSNP gnomAD v4 |
| 17 | g.42536314C>T | CA500215671 | NAGLU | c.42C>T (p.Leu14=) | dbSNP gnomAD v4 |
| 17 | g.42536315C>A | CA399595042 | NAGLU | c.43C>A (p.Leu15Met) | gnomAD v4 |
| 17 | g.42536315C= | CA2260526688 | NAGLU | c.43C= (p.Leu15=) | |
| 17 | g.42536315C>G | CA399595044 | NAGLU | c.43C>G (p.Leu15Val) | |
| 17 | g.42536315C>T | CA500215675 | NAGLU | c.43C>T (p.Leu15=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536316T>A | CA399595047 | NAGLU | c.44T>A (p.Leu15Gln) | |
| 17 | g.42536316T>C | CA399595049 | NAGLU | c.44T>C (p.Leu15Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42536316T>G | CA399595052 | NAGLU | c.44T>G (p.Leu15Arg) | |
| 17 | g.42536316T= | CA2260526689 | NAGLU | c.44T= (p.Leu15=) | |
| 17 | g.42536317G>A | CA500215682 | NAGLU | c.45G>A (p.Leu15=) | gnomAD v4 |
| 17 | g.42536317G>C | CA500215683 | NAGLU | c.45G>C (p.Leu15=) | |
| 17 | g.42536317G>T | CA500215684 | NAGLU | c.45G>T (p.Leu15=) | gnomAD v4 |
| 17 | g.42536318G>A | CA399595059 | NAGLU | c.46G>A (p.Ala16Thr) | gnomAD v4 |
| 17 | g.42536318G>C | CA399595057 | NAGLU | c.46G>C (p.Ala16Pro) | |
| 17 | g.42536318G>T | CA399595054 | NAGLU | c.46G>T (p.Ala16Ser) | gnomAD v4 |
| 17 | g.42536319C>A | CA399595062 | NAGLU | c.47C>A (p.Ala16Asp) | gnomAD v4 |
| 17 | g.42536319C= | CA2260526690 | NAGLU | c.47C= (p.Ala16=) | |
| 17 | g.42536319C>G | CA399595064 | NAGLU | c.47C>G (p.Ala16Gly) | |
| 17 | g.42536319C>T | CA8576698 | NAGLU | c.47C>T (p.Ala16Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42536320C>A | CA500215688 | NAGLU | c.48C>A (p.Ala16=) | gnomAD v4 |
| 17 | g.42536320C= | CA2260526692 | NAGLU | c.48C= (p.Ala16=) | |
| 17 | g.42536320C>G | CA500215687 | NAGLU | c.48C>G (p.Ala16=) | |
| 17 | g.42536320C>T | CA500215686 | NAGLU | c.48C>T (p.Ala16=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42536320_42536321delinsCG | CA2260526691 | NAGLU | c.48_49delinsCG (p.Ala16=) | |
| 17 | g.42536321G>A | CA399595068 | NAGLU | c.49G>A (p.Gly17Arg) | dbSNP gnomAD v4 |
| 17 | g.42536321G>C | CA399595070 | NAGLU | c.49G>C (p.Gly17Arg) | gnomAD v4 |
| 17 | g.42536321G= | CA2260526693 | NAGLU | c.49G= (p.Gly17=) | |
| 17 | g.42536321G>T | CA399595072 | NAGLU | c.49G>T (p.Gly17Trp) | gnomAD v4 |
| 17 | g.42536324del | CA626218514 | NAGLU | c.52del (p.Ala18ProfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42536326_42536332dup | CA2499224325 | NAGLU | c.54_60dup (p.Ala21ArgfsTer?) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536321_42536345dup | CA1139665538 | NAGLU | c.49_73dup (p.Glu25GlyfsTer?) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536322G>A | CA399595075 | NAGLU | c.50G>A (p.Gly17Glu) | gnomAD v4 |
| 17 | g.42536322G>C | CA399595078 | NAGLU | c.50G>C (p.Gly17Ala) | gnomAD v4 |
| 17 | g.42536322G= | CA2260526694 | NAGLU | c.50G= (p.Gly17=) | |
| 17 | g.42536322G>T | CA290771238 | NAGLU | c.50G>T (p.Gly17Val) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536323G>A | CA500215696 | NAGLU | c.51G>A (p.Gly17=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536323G>C | CA500215697 | NAGLU | c.51G>C (p.Gly17=) | |
| 17 | g.42536323G>T | CA500215699 | NAGLU | c.51G>T (p.Gly17=) | |
| 17 | g.42536324G>A | CA399595081 | NAGLU | c.52G>A (p.Ala18Thr) | gnomAD v4 |
| 17 | g.42536324G>C | CA399595083 | NAGLU | c.52G>C (p.Ala18Pro) | gnomAD v4 |
| 17 | g.42536324G>T | CA399595085 | NAGLU | c.52G>T (p.Ala18Ser) | gnomAD v4 |
| 17 | g.42536325C>A | CA399595087 | NAGLU | c.53C>A (p.Ala18Asp) | gnomAD v4 |
| 17 | g.42536325C>G | CA399595089 | NAGLU | c.53C>G (p.Ala18Gly) | |
| 17 | g.42536325C>T | CA399595092 | NAGLU | c.53C>T (p.Ala18Val) | gnomAD v4 |
| 17 | g.42536326C>A | CA500215704 | NAGLU | c.54C>A (p.Ala18=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536326C= | CA2260526695 | NAGLU | c.54C= (p.Ala18=) | |
| 17 | g.42536326C>G | CA500215705 | NAGLU | c.54C>G (p.Ala18=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536326C>T | CA500215709 | NAGLU | c.54C>T (p.Ala18=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536326_42536327delinsCG | CA2260526696 | NAGLU | c.54_55delinsCG (p.Ala18=) | |
| 17 | g.42536327G>A | CA399595096 | NAGLU | c.55G>A (p.Gly19Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42536327G>C | CA399595098 | NAGLU | c.55G>C (p.Gly19Arg) | dbSNP gnomAD v4 |
| 17 | g.42536327G= | CA2260526697 | NAGLU | c.55G= (p.Gly19=) | |
| 17 | g.42536327G>T | CA399595103 | NAGLU | c.55G>T (p.Gly19Trp) | gnomAD v4 |
| 17 | g.42536331dup | CA2573154143 | NAGLU | c.59dup (p.Ala21ArgfsTer?) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536331del | CA626218515 | NAGLU | c.59del (p.Gly20AlafsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42536328G>A | CA399595106 | NAGLU | c.56G>A (p.Gly19Glu) | ClinVar gnomAD v4 |
| 17 | g.42536328G>C | CA399595109 | NAGLU | c.56G>C (p.Gly19Ala) | gnomAD v4 |
| 17 | g.42536328G>T | CA399595111 | NAGLU | c.56G>T (p.Gly19Val) | gnomAD v4 |
| 17 | g.42536329_42536345dup | CA2637965689 | NAGLU | c.57_73dup (p.Glu25GlyfsTer?) | gnomAD v4 |
| 17 | g.42536329G>A | CA500215716 | NAGLU | c.57G>A (p.Gly19=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536329G>C | CA500215714 | NAGLU | c.57G>C (p.Gly19=) | |
| 17 | g.42536329G>T | CA500215715 | NAGLU | c.57G>T (p.Gly19=) | gnomAD v4 |
| 17 | g.42536330G>A | CA399595116 | NAGLU | c.58G>A (p.Gly20Ser) | |
| 17 | g.42536330G>C | CA399595118 | NAGLU | c.58G>C (p.Gly20Arg) | |
| 17 | g.42536330G>T | CA399595114 | NAGLU | c.58G>T (p.Gly20Cys) | gnomAD v4 |
| 17 | g.42536331G>A | CA399595127 | NAGLU | c.59G>A (p.Gly20Asp) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536331G>C | CA399595122 | NAGLU | c.59G>C (p.Gly20Ala) | dbSNP |
| 17 | g.42536331G= | CA2260526698 | NAGLU | c.59G= (p.Gly20=) | |
| 17 | g.42536331G>T | CA399595124 | NAGLU | c.59G>T (p.Gly20Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536332C>A | CA500215721 | NAGLU | c.60C>A (p.Gly20=) | gnomAD v4 |
| 17 | g.42536332C= | CA2260526699 | NAGLU | c.60C= (p.Gly20=) | |
| 17 | g.42536332C>G | CA500215722 | NAGLU | c.60C>G (p.Gly20=) | gnomAD v4 |
| 17 | g.42536332C>T | CA500215720 | NAGLU | c.60C>T (p.Gly20=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42536333G>A | CA399595129 | NAGLU | c.61G>A (p.Ala21Thr) | gnomAD v4 |
| 17 | g.42536333G>C | CA399595131 | NAGLU | c.61G>C (p.Ala21Pro) | |
| 17 | g.42536333G>T | CA399595134 | NAGLU | c.61G>T (p.Ala21Ser) | gnomAD v4 |
| 17 | g.42536338_42536364dup | CA2637965700 | NAGLU | c.66_92dup (p.Ala31_Val32insGlyAspGluAlaArgGluAlaAlaAla) | gnomAD v4 |
| 17 | g.42536334C>A | CA399595135 | NAGLU | c.62C>A (p.Ala21Glu) | gnomAD v4 |
| 17 | g.42536334C>G | CA399595138 | NAGLU | c.62C>G (p.Ala21Gly) | |
| 17 | g.42536334C>T | CA399595140 | NAGLU | c.62C>T (p.Ala21Val) | gnomAD v4 |
| 17 | g.42536335G>A | CA500215739 | NAGLU | c.63G>A (p.Ala21=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42536335G>C | CA290771242 | NAGLU | c.63G>C (p.Ala21=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42536335G= | CA2260526700 | NAGLU | c.63G= (p.Ala21=) | |
| 17 | g.42536335G>T | CA500215740 | NAGLU | c.63G>T (p.Ala21=) | gnomAD v4 |
| 17 | g.42536336G>A | CA399595146 | NAGLU | c.64G>A (p.Ala22Thr) | gnomAD v4 |
| 17 | g.42536336G>C | CA399595148 | NAGLU | c.64G>C (p.Ala22Pro) | |
| 17 | g.42536336G>T | CA399595150 | NAGLU | c.64G>T (p.Ala22Ser) | gnomAD v4 |
| 17 | g.42536337C>A | CA399595153 | NAGLU | c.65C>A (p.Ala22Glu) | gnomAD v4 |
| 17 | g.42536337C>G | CA399595155 | NAGLU | c.65C>G (p.Ala22Gly) | |
| 17 | g.42536337C>T | CA399595158 | NAGLU | c.65C>T (p.Ala22Val) | gnomAD v4 |
| 17 | g.42536338A>C | CA500215747 | NAGLU | c.66A>C (p.Ala22=) | |
| 17 | g.42536338A>G | CA500215750 | NAGLU | c.66A>G (p.Ala22=) | gnomAD v4 |
| 17 | g.42536338A>T | CA500215749 | NAGLU | c.66A>T (p.Ala22=) | |
| 17 | g.42536343_42536359del | CA2499224326 | NAGLU | c.71_87del (p.Asp24GlyfsTer?) | ClinVar dbSNP |
| 17 | g.42536339G>A | CA399595161 | NAGLU | c.67G>A (p.Gly23Ser) | gnomAD v4 |
| 17 | g.42536339G>C | CA399595164 | NAGLU | c.67G>C (p.Gly23Arg) | |
| 17 | g.42536339G>T | CA399595162 | NAGLU | c.67G>T (p.Gly23Cys) |