Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.42536553G>A | CA399595934 | NAGLU | c.281G>A (p.Arg94His) c.31G>A c.24G>A (p.Ala8=) c.-462G>A (n.-462G>A) | gnomAD v4 |
17 | g.42536553G>C | CA399595936 | NAGLU | c.281G>C (p.Arg94Pro) c.31G>C c.24G>C (p.Ala8=) c.-462G>C (n.-462G>C) | gnomAD v4 |
17 | g.42536553G>T | CA399595939 | NAGLU | c.281G>T (p.Arg94Leu) c.31G>T c.24G>T (p.Ala8=) c.-462G>T (n.-462G>T) | gnomAD v4 |
17 | g.42536553_42536555delinsCCC | CA2695226051 | NAGLU | c.281_283delinsCCC (p.Arg94_Asp95delinsProHis) c.31_33delinsCCC c.24_26delinsCCC (p.Arg9Pro) c.-462_-460delinsCCC (n.-462_-460delinsCCC) | |
17 | g.42536554C>A | CA500215737 | NAGLU | c.282C>A (p.Arg94=) c.32C>A c.25C>A (p.Arg9=) c.-461C>A (n.-461C>A) | gnomAD v4 |
17 | g.42536554C= | CA2260526814 | NAGLU | c.282C= (p.Arg94=) c.32C= c.25C= (p.Arg9=) c.-461C= (n.-461C=) | |
17 | g.42536554C>G | CA399595941 | NAGLU | c.282C>G (p.Arg94=) c.32C>G c.25C>G (p.Arg9Gly) c.-461C>G (n.-461C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536554C>T | CA290771374 | NAGLU | c.282C>T (p.Arg94=) c.32C>T c.25C>T (p.Arg9Ter) c.-461C>T (n.-461C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536555G>A | CA399595942 | NAGLU | c.283G>A (p.Asp95Asn) c.33G>A c.26G>A (p.Arg9Gln) c.-460G>A (n.-460G>A) | dbSNP gnomAD v4 |
17 | g.42536555G>C | CA399595945 | NAGLU | c.283G>C (p.Asp95His) c.33G>C c.26G>C (p.Arg9Pro) c.-460G>C (n.-460G>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536555G= | CA2260526815 | NAGLU | c.283G= (p.Asp95=) c.33G= c.26G= (p.Arg9=) c.-460G= (n.-460G=) | |
17 | g.42536555G>T | CA399595947 | NAGLU | c.283G>T (p.Asp95Tyr) c.33G>T c.26G>T (p.Arg9Leu) c.-460G>T (n.-460G>T) | gnomAD v4 |
17 | g.42536556A>C | CA399595950 | NAGLU | c.284A>C (p.Asp95Ala) c.34A>C c.27A>C (p.Arg9=) c.-459A>C (n.-459A>C) | |
17 | g.42536556A>G | CA399595952 | NAGLU | c.284A>G (p.Asp95Gly) c.34A>G c.27A>G (p.Arg9=) c.-459A>G (n.-459A>G) | gnomAD v4 |
17 | g.42536556A>T | CA399595953 | NAGLU | c.284A>T (p.Asp95Val) c.34A>T c.27A>T (p.Arg9=) c.-459A>T (n.-459A>T) | |
17 | g.42536557C>A | CA290771383 | NAGLU | c.285C>A (p.Asp95Glu) c.35C>A c.28C>A (p.Leu10Ile) c.-458C>A (n.-458C>A) | dbSNP gnomAD v4 |
17 | g.42536557C= | CA2260526816 | NAGLU | c.285C= (p.Asp95=) c.35C= c.28C= (p.Leu10=) c.-458C= (n.-458C=) | |
17 | g.42536557C>G | CA399595958 | NAGLU | c.285C>G (p.Asp95Glu) c.35C>G c.28C>G (p.Leu10Val) c.-458C>G (n.-458C>G) | gnomAD v4 |
17 | g.42536557C>T | CA399595956 | NAGLU | c.285C>T (p.Asp95=) c.35C>T c.28C>T (p.Leu10Phe) c.-458C>T (n.-458C>T) | gnomAD v4 |
17 | g.42536558T>A | CA399595961 | NAGLU | c.286T>A (p.Phe96Ile) c.36T>A c.29T>A (p.Leu10His) c.-457T>A (n.-457T>A) | gnomAD v4 |
17 | g.42536558T>C | CA399595963 | NAGLU | c.286T>C (p.Phe96Leu) c.36T>C c.29T>C (p.Leu10Pro) c.-457T>C (n.-457T>C) | gnomAD v4 |
17 | g.42536558T>G | CA399595965 | NAGLU | c.286T>G (p.Phe96Val) c.36T>G c.29T>G (p.Leu10Arg) c.-457T>G (n.-457T>G) | |
17 | g.42536559T>A | CA399595967 | NAGLU | c.287T>A (p.Phe96Tyr) c.37T>A c.30T>A (p.Leu10=) c.-456T>A (n.-456T>A) | |
17 | g.42536559T>C | CA399595969 | NAGLU | c.287T>C (p.Phe96Ser) c.37T>C c.30T>C (p.Leu10=) c.-456T>C (n.-456T>C) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536559T>G | CA399595971 | NAGLU | c.287T>G (p.Phe96Cys) c.37T>G c.30T>G (p.Leu10=) c.-456T>G (n.-456T>G) | |
17 | g.42536559T= | CA2260526817 | NAGLU | c.287T= (p.Phe96=) c.37T= c.30T= (p.Leu10=) c.-456T= (n.-456T=) | |
17 | g.42536560C>A | CA399595974 | NAGLU | c.288C>A (p.Phe96Leu) c.38C>A c.31C>A (p.Leu11Met) c.-455C>A (n.-455C>A) | gnomAD v4 |
17 | g.42536560C= | CA2260526818 | NAGLU | c.288C= (p.Phe96=) c.38C= c.31C= (p.Leu11=) c.-455C= (n.-455C=) | |
17 | g.42536560C>G | CA399595976 | NAGLU | c.288C>G (p.Phe96Leu) c.38C>G c.31C>G (p.Leu11Val) c.-455C>G (n.-455C>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536560C>T | CA8576700 | NAGLU | c.288C>T (p.Phe96=) c.38C>T c.31C>T (p.Leu11=) c.-455C>T (n.-455C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536561T>A | CA399595980 | NAGLU | c.289T>A (p.Cys97Ser) c.39T>A c.32T>A (p.Leu11Gln) c.-454T>A (n.-454T>A) | |
17 | g.42536561T>C | CA399595981 | NAGLU | c.289T>C (p.Cys97Arg) c.39T>C c.32T>C (p.Leu11Pro) c.-454T>C (n.-454T>C) | gnomAD v4 |
17 | g.42536561T>G | CA399595982 | NAGLU | c.289T>G (p.Cys97Gly) c.39T>G c.32T>G (p.Leu11Arg) c.-454T>G (n.-454T>G) | |
17 | g.42536562G>A | CA399595984 | NAGLU | c.290G>A (p.Cys97Tyr) c.40G>A c.33G>A (p.Leu11=) c.-453G>A (n.-453G>A) | gnomAD v4 |
17 | g.42536562G>C | CA399595985 | NAGLU | c.290G>C (p.Cys97Ser) c.40G>C c.33G>C (p.Leu11=) c.-453G>C (n.-453G>C) | |
17 | g.42536562G>T | CA399595983 | NAGLU | c.290G>T (p.Cys97Phe) c.40G>T c.33G>T (p.Leu11=) c.-453G>T (n.-453G>T) | gnomAD v4 |
17 | g.42536563T>A | CA399595987 | NAGLU | c.291T>A (p.Cys97Ter) c.41T>A c.34T>A (p.Trp12Arg) c.-452T>A (n.-452T>A) | gnomAD v4 |
17 | g.42536563T>C | CA399595986 | NAGLU | c.291T>C (p.Cys97=) c.41T>C c.34T>C (p.Trp12Arg) c.-452T>C (n.-452T>C) | gnomAD v4 |
17 | g.42536563T>G | CA399595988 | NAGLU | c.291T>G (p.Cys97Trp) c.41T>G c.34T>G (p.Trp12Gly) c.-452T>G (n.-452T>G) | ClinVar dbSNP gnomAD v4 |
17 | g.42536563T= | CA2260526819 | NAGLU | c.291T= (p.Cys97=) c.41T= c.34T= (p.Trp12=) c.-452T= (n.-452T=) | |
17 | g.42536564G>A | CA399595989 | NAGLU | c.292G>A (p.Gly98Ser) c.42G>A c.35G>A (p.Trp12Ter) c.-451G>A (n.-451G>A) | gnomAD v4 |
17 | g.42536564G>C | CA399595990 | NAGLU | c.292G>C (p.Gly98Arg) c.42G>C c.35G>C (p.Trp12Ser) c.-451G>C (n.-451G>C) | |
17 | g.42536564G>T | CA399595991 | NAGLU | c.292G>T (p.Gly98Cys) c.42G>T c.35G>T (p.Trp12Leu) c.-451G>T (n.-451G>T) | gnomAD v4 |
17 | g.42536565del | CA2637966330 | NAGLU | c.293del (p.Gly98AlafsTer24) c.43del c.36del (p.Trp12CysfsTer?) c.-450del (n.-450del) | gnomAD v4 |
17 | g.42536565G>A | CA399595992 | NAGLU | c.293G>A (p.Gly98Asp) c.43G>A c.36G>A (p.Trp12Ter) c.-450G>A (n.-450G>A) | gnomAD v4 |
17 | g.42536565G>C | CA399595993 | NAGLU | c.293G>C (p.Gly98Ala) c.43G>C c.36G>C (p.Trp12Cys) c.-450G>C (n.-450G>C) | |
17 | g.42536565G>T | CA399595994 | NAGLU | c.293G>T (p.Gly98Val) c.43G>T c.36G>T (p.Trp12Cys) c.-450G>T (n.-450G>T) | gnomAD v4 |
17 | g.42536566C>A | CA399595995 | NAGLU | c.294C>A (p.Gly98=) c.44C>A c.37C>A (p.Leu13Met) c.-449C>A (n.-449C>A) | gnomAD v4 |
17 | g.42536566C= | CA2260526820 | NAGLU | c.294C= (p.Gly98=) c.44C= c.37C= (p.Leu13=) c.-449C= (n.-449C=) | |
17 | g.42536566C>G | CA399595996 | NAGLU | c.294C>G (p.Gly98=) c.44C>G c.37C>G (p.Leu13Val) c.-449C>G (n.-449C>G) | dbSNP gnomAD v4 |
17 | g.42536566C>T | CA500215769 | NAGLU | c.294C>T (p.Gly98=) c.44C>T c.37C>T (p.Leu13=) c.-449C>T (n.-449C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536567T>A | CA399595997 | NAGLU | c.295T>A (p.Cys99Ser) c.45T>A c.38T>A (p.Leu13Gln) c.-448T>A (n.-448T>A) | |
17 | g.42536567T>C | CA399595998 | NAGLU | c.295T>C (p.Cys99Arg) c.45T>C c.38T>C (p.Leu13Pro) c.-448T>C (n.-448T>C) | gnomAD v4 |
17 | g.42536567T>G | CA399595999 | NAGLU | c.295T>G (p.Cys99Gly) c.45T>G c.38T>G (p.Leu13Arg) c.-448T>G (n.-448T>G) | |
17 | g.42536567_42536576del | CA2637966332 | NAGLU | c.295_304del (p.Cys99ProfsTer20) c.45_54del c.38_47del (p.Leu13ProfsTer?) c.-448_-439del (n.-448_-439del) | gnomAD v4 |
17 | g.42536568G>A | CA399596002 | NAGLU | c.296G>A (p.Cys99Tyr) c.46G>A c.39G>A (p.Leu13=) c.-447G>A (n.-447G>A) | gnomAD v4 |
17 | g.42536568G>C | CA399596001 | NAGLU | c.296G>C (p.Cys99Ser) c.46G>C c.39G>C (p.Leu13=) c.-447G>C (n.-447G>C) | gnomAD v4 |
17 | g.42536568G>T | CA399596000 | NAGLU | c.296G>T (p.Cys99Phe) c.46G>T c.39G>T (p.Leu13=) c.-447G>T (n.-447G>T) | gnomAD v4 |
17 | g.42536569C>A | CA399596003 | NAGLU | c.297C>A (p.Cys99Ter) c.47C>A c.40C>A (p.Pro14Thr) c.-446C>A (n.-446C>A) | gnomAD v4 |
17 | g.42536569C= | CA2260526821 | NAGLU | c.297C= (p.Cys99=) c.47C= c.40C= (p.Pro14=) c.-446C= (n.-446C=) | |
17 | g.42536569C>G | CA399596004 | NAGLU | c.297C>G (p.Cys99Trp) c.47C>G c.40C>G (p.Pro14Ala) c.-446C>G (n.-446C>G) | gnomAD v4 |
17 | g.42536569C>T | CA399596005 | NAGLU | c.297C>T (p.Cys99=) c.47C>T c.40C>T (p.Pro14Ser) c.-446C>T (n.-446C>T) | dbSNP gnomAD v4 |
17 | g.42536570C>A | CA399596006 | NAGLU | c.298C>A (p.His100Asn) c.48C>A c.41C>A (p.Pro14Gln) c.-445C>A (n.-445C>A) | gnomAD v4 |
17 | g.42536570C= | CA2260526822 | NAGLU | c.298C= (p.His100=) c.48C= c.41C= (p.Pro14=) c.-445C= (n.-445C=) | |
17 | g.42536570C>G | CA399596007 | NAGLU | c.298C>G (p.His100Asp) c.48C>G c.41C>G (p.Pro14Arg) c.-445C>G (n.-445C>G) | gnomAD v4 |
17 | g.42536570C>T | CA399596008 | NAGLU | c.298C>T (p.His100Tyr) c.48C>T c.41C>T (p.Pro14Leu) c.-445C>T (n.-445C>T) | dbSNP gnomAD v4 |
17 | g.42536571A>C | CA399596009 | NAGLU | c.299A>C (p.His100Pro) c.49A>C c.42A>C (p.Pro14=) c.-444A>C (n.-444A>C) | |
17 | g.42536571A>G | CA399596010 | NAGLU | c.299A>G (p.His100Arg) c.49A>G c.42A>G (p.Pro14=) c.-444A>G (n.-444A>G) | |
17 | g.42536571A>T | CA399596011 | NAGLU | c.299A>T (p.His100Leu) c.49A>T c.42A>T (p.Pro14=) c.-444A>T (n.-444A>T) | |
17 | g.42536572C>A | CA399596012 | NAGLU | c.300C>A (p.His100Gln) c.50C>A c.43C>A (p.Arg15Ser) c.-443C>A (n.-443C>A) | gnomAD v4 |
17 | g.42536572C= | CA2260526823 | NAGLU | c.300C= (p.His100=) c.50C= c.43C= (p.Arg15=) c.-443C= (n.-443C=) | |
17 | g.42536572C>G | CA399596013 | NAGLU | c.300C>G (p.His100Gln) c.50C>G c.43C>G (p.Arg15Gly) c.-443C>G (n.-443C>G) | |
17 | g.42536572C>T | CA399596014 | NAGLU | c.300C>T (p.His100=) c.50C>T c.43C>T (p.Arg15Cys) c.-443C>T (n.-443C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536573G>A | CA399596016 | NAGLU | c.301G>A (p.Val101Met) c.51G>A c.44G>A (p.Arg15His) c.-442G>A (n.-442G>A) | gnomAD v4 |
17 | g.42536573G>C | CA399596017 | NAGLU | c.301G>C (p.Val101Leu) c.51G>C c.44G>C (p.Arg15Pro) c.-442G>C (n.-442G>C) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536573G= | CA2260526824 | NAGLU | c.301G= (p.Val101=) c.51G= c.44G= (p.Arg15=) c.-442G= (n.-442G=) | |
17 | g.42536573G>T | CA399596015 | NAGLU | c.301G>T (p.Val101Leu) c.51G>T c.44G>T (p.Arg15Leu) c.-442G>T (n.-442G>T) | gnomAD v4 |
17 | g.42536574T>A | CA399596018 | NAGLU | c.302T>A (p.Val101Glu) c.52T>A c.45T>A (p.Arg15=) c.-441T>A (n.-441T>A) | |
17 | g.42536574T>C | CA399596019 | NAGLU | c.302T>C (p.Val101Ala) c.52T>C c.45T>C (p.Arg15=) c.-441T>C (n.-441T>C) | gnomAD v4 |
17 | g.42536574T>G | CA399596020 | NAGLU | c.302T>G (p.Val101Gly) c.52T>G c.45T>G (p.Arg15=) c.-441T>G (n.-441T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536574T= | CA2260526825 | NAGLU | c.302T= (p.Val101=) c.52T= c.45T= (p.Arg15=) c.-441T= (n.-441T=) | |
17 | g.42536575G>A | CA399596021 | NAGLU | c.303G>A (p.Val101=) c.53G>A c.46G>A (p.Gly16Ser) c.-440G>A (n.-440G>A) | gnomAD v4 |
17 | g.42536575G>C | CA399596022 | NAGLU | c.303G>C (p.Val101=) c.53G>C c.46G>C (p.Gly16Arg) c.-440G>C (n.-440G>C) | |
17 | g.42536575G>T | CA399596023 | NAGLU | c.303G>T (p.Val101=) c.53G>T c.46G>T (p.Gly16Cys) c.-440G>T (n.-440G>T) | gnomAD v4 |
17 | g.42536576G>A | CA399596026 | NAGLU | c.304G>A (p.Ala102Thr) c.54G>A c.47G>A (p.Gly16Asp) c.-439G>A (n.-439G>A) | ClinVar gnomAD v4 |
17 | g.42536576G>C | CA399596024 | NAGLU | c.304G>C (p.Ala102Pro) c.54G>C c.47G>C (p.Gly16Ala) c.-439G>C (n.-439G>C) | |
17 | g.42536576G>T | CA399596025 | NAGLU | c.304G>T (p.Ala102Ser) c.54G>T c.47G>T (p.Gly16Val) c.-439G>T (n.-439G>T) | gnomAD v4 |
17 | g.42536577C>A | CA399596027 | NAGLU | c.305C>A (p.Ala102Asp) c.55C>A c.48C>A (p.Gly16=) c.-438C>A (n.-438C>A) | gnomAD v4 |
17 | g.42536577C= | CA2260526826 | NAGLU | c.305C= (p.Ala102=) c.55C= c.48C= (p.Gly16=) c.-438C= (n.-438C=) | |
17 | g.42536577C>G | CA399596028 | NAGLU | c.305C>G (p.Ala102Gly) c.55C>G c.48C>G (p.Gly16=) c.-438C>G (n.-438C>G) | dbSNP |
17 | g.42536577C>T | CA399596029 | NAGLU | c.305C>T (p.Ala102Val) c.55C>T c.48C>T (p.Gly16=) c.-438C>T (n.-438C>T) | gnomAD v4 |
17 | g.42536578C>A | CA399596030 | NAGLU | c.306C>A (p.Ala102=) c.56C>A c.49C>A (p.Leu17Met) c.-437C>A (n.-437C>A) | gnomAD v4 |
17 | g.42536578C= | CA2260526827 | NAGLU | c.306C= (p.Ala102=) c.56C= c.49C= (p.Leu17=) c.-437C= (n.-437C=) | |
17 | g.42536578C>G | CA399596031 | NAGLU | c.306C>G (p.Ala102=) c.56C>G c.49C>G (p.Leu17Val) c.-437C>G (n.-437C>G) | ClinVar |
17 | g.42536578C>T | CA500215795 | NAGLU | c.306C>T (p.Ala102=) c.56C>T c.49C>T (p.Leu17=) c.-437C>T (n.-437C>T) | ClinVar dbSNP gnomAD v4 |
17 | g.42536579T>A | CA399596032 | NAGLU | c.307T>A (p.Trp103Arg) c.57T>A c.50T>A (p.Leu17Gln) c.-436T>A (n.-436T>A) | gnomAD v4 |
17 | g.42536579T>C | CA399596034 | NAGLU | c.307T>C (p.Trp103Arg) c.57T>C c.50T>C (p.Leu17Pro) c.-436T>C (n.-436T>C) | gnomAD v4 |
17 | g.42536579T>G | CA399596033 | NAGLU | c.307T>G (p.Trp103Gly) c.57T>G c.50T>G (p.Leu17Arg) c.-436T>G (n.-436T>G) | |
17 | g.42536580G>A | CA399596035 | NAGLU | c.308G>A (p.Trp103Ter) c.58G>A c.51G>A (p.Leu17=) c.-435G>A (n.-435G>A) | ClinVar dbSNP gnomAD v4 |
17 | g.42536580G>C | CA399596036 | NAGLU | c.308G>C (p.Trp103Ser) c.58G>C c.51G>C (p.Leu17=) c.-435G>C (n.-435G>C) | dbSNP gnomAD v4 |
17 | g.42536580G= | CA2260526828 | NAGLU | c.308G= (p.Trp103=) c.58G= c.51G= (p.Leu17=) c.-435G= (n.-435G=) | |
17 | g.42536580G>T | CA399596037 | NAGLU | c.308G>T (p.Trp103Leu) c.58G>T c.51G>T (p.Leu17=) c.-435G>T (n.-435G>T) | gnomAD v4 |
17 | g.42536581G>A | CA399596038 | NAGLU | c.309G>A (p.Trp103Ter) c.59G>A c.52G>A (p.Val18Ile) c.-434G>A (n.-434G>A) | ClinVar dbSNP gnomAD v4 |
17 | g.42536581G>C | CA399596039 | NAGLU | c.309G>C (p.Trp103Cys) c.59G>C c.52G>C (p.Val18Leu) c.-434G>C (n.-434G>C) | |
17 | g.42536581G= | CA2260526829 | NAGLU | c.309G= (p.Trp103=) c.59G= c.52G= (p.Val18=) c.-434G= (n.-434G=) | |
17 | g.42536581G>T | CA399596040 | NAGLU | c.309G>T (p.Trp103Cys) c.59G>T c.52G>T (p.Val18Phe) c.-434G>T (n.-434G>T) | |
17 | g.42536582T>A | CA399596041 | NAGLU | c.310T>A (p.Ser104Thr) c.60T>A c.53T>A (p.Val18Asp) c.-433T>A (n.-433T>A) | |
17 | g.42536582T>C | CA399596042 | NAGLU | c.310T>C (p.Ser104Pro) c.60T>C c.53T>C (p.Val18Ala) c.-433T>C (n.-433T>C) | gnomAD v4 |
17 | g.42536582T>G | CA399596043 | NAGLU | c.310T>G (p.Ser104Ala) c.60T>G c.53T>G (p.Val18Gly) c.-433T>G (n.-433T>G) | |
17 | g.42536583C>A | CA399596044 | NAGLU | c.311C>A (p.Ser104Tyr) c.61C>A c.54C>A (p.Val18=) c.-432C>A (n.-432C>A) | ClinVar dbSNP gnomAD v4 |
17 | g.42536583C>G | CA399596045 | NAGLU | c.311C>G (p.Ser104Cys) c.61C>G c.54C>G (p.Val18=) c.-432C>G (n.-432C>G) | |
17 | g.42536583C>T | CA399596046 | NAGLU | c.311C>T (p.Ser104Phe) c.61C>T c.54C>T (p.Val18=) c.-432C>T (n.-432C>T) | |
17 | g.42536584C>A | CA500215815 | NAGLU | c.312C>A (p.Ser104=) c.62C>A c.55C>A (p.Arg19=) c.-431C>A (n.-431C>A) | gnomAD v4 |
17 | g.42536584C>G | CA399596048 | NAGLU | c.312C>G (p.Ser104=) c.62C>G c.55C>G (p.Arg19Gly) c.-431C>G (n.-431C>G) | gnomAD v4 |
17 | g.42536584C>T | CA399596047 | NAGLU | c.312C>T (p.Ser104=) c.62C>T c.55C>T (p.Arg19Trp) c.-431C>T (n.-431C>T) | ClinVar gnomAD v4 |
17 | g.42536585G>A | CA399596049 | NAGLU | c.313G>A (p.Gly105Ser) c.63G>A c.56G>A (p.Arg19Gln) c.-430G>A (n.-430G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536585G>C | CA399596051 | NAGLU | c.313G>C (p.Gly105Arg) c.63G>C c.56G>C (p.Arg19Pro) c.-430G>C (n.-430G>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536585G= | CA2260526830 | NAGLU | c.313G= (p.Gly105=) c.63G= c.56G= (p.Arg19=) c.-430G= (n.-430G=) | |
17 | g.42536585G>T | CA399596050 | NAGLU | c.313G>T (p.Gly105Cys) c.63G>T c.56G>T (p.Arg19Leu) c.-430G>T (n.-430G>T) | gnomAD v4 |
17 | g.42536586G>A | CA399596052 | NAGLU | c.314G>A (p.Gly105Asp) c.64G>A c.57G>A (p.Arg19=) c.-429G>A (n.-429G>A) | gnomAD v4 |
17 | g.42536586G>C | CA399596053 | NAGLU | c.314G>C (p.Gly105Ala) c.64G>C c.57G>C (p.Arg19=) c.-429G>C (n.-429G>C) | ClinVar |
17 | g.42536586G>T | CA399596054 | NAGLU | c.314G>T (p.Gly105Val) c.64G>T c.57G>T (p.Arg19=) c.-429G>T (n.-429G>T) | gnomAD v4 |
17 | g.42536589_42536595del | CA2573154146 | NAGLU | c.317_323del (p.Ser106CysfsTer14) c.67_73del c.60_66del (p.Ser21ArgfsTer27) c.-426_-420del (n.-426_-420del) | ClinVar dbSNP |
17 | g.42536587C>A | CA399596055 | NAGLU | c.315C>A (p.Gly105=) c.65C>A c.58C>A (p.Leu20Ile) c.-428C>A (n.-428C>A) | gnomAD v4 |
17 | g.42536587C>G | CA399596056 | NAGLU | c.315C>G (p.Gly105=) c.65C>G c.58C>G (p.Leu20Val) c.-428C>G (n.-428C>G) | ClinVar dbSNP gnomAD v4 |
17 | g.42536587C>T | CA399596057 | NAGLU | c.315C>T (p.Gly105=) c.65C>T c.58C>T (p.Leu20Phe) c.-428C>T (n.-428C>T) | |
17 | g.42536588T>A | CA399596058 | NAGLU | c.316T>A (p.Ser106Thr) c.66T>A c.59T>A (p.Leu20His) c.-427T>A (n.-427T>A) | |
17 | g.42536588T>C | CA399596060 | NAGLU | c.316T>C (p.Ser106Pro) c.66T>C c.59T>C (p.Leu20Pro) c.-427T>C (n.-427T>C) | gnomAD v4 |
17 | g.42536588T>G | CA399596062 | NAGLU | c.316T>G (p.Ser106Ala) c.66T>G c.59T>G (p.Leu20Arg) c.-427T>G (n.-427T>G) | |
17 | g.42536589C>A | CA399596064 | NAGLU | c.317C>A (p.Ser106Tyr) c.67C>A c.60C>A (p.Leu20=) c.-426C>A (n.-426C>A) | gnomAD v4 |
17 | g.42536589C= | CA2260526831 | NAGLU | c.317C= (p.Ser106=) c.67C= c.60C= (p.Leu20=) c.-426C= (n.-426C=) | |
17 | g.42536589C>G | CA399596065 | NAGLU | c.317C>G (p.Ser106Cys) c.67C>G c.60C>G (p.Leu20=) c.-426C>G (n.-426C>G) | |
17 | g.42536589C>T | CA399596067 | NAGLU | c.317C>T (p.Ser106Phe) c.67C>T c.60C>T (p.Leu20=) c.-426C>T (n.-426C>T) | ClinVar dbSNP gnomAD v4 |
17 | g.42536590T>A | CA399596073 | NAGLU | c.318T>A (p.Ser106=) c.68T>A c.61T>A (p.Ser21Thr) c.-425T>A (n.-425T>A) | gnomAD v4 |
17 | g.42536590T>C | CA399596072 | NAGLU | c.318T>C (p.Ser106=) c.68T>C c.61T>C (p.Ser21Pro) c.-425T>C (n.-425T>C) | gnomAD v4 |
17 | g.42536590T>G | CA399596070 | NAGLU | c.318T>G (p.Ser106=) c.68T>G c.61T>G (p.Ser21Ala) c.-425T>G (n.-425T>G) | ClinVar |
17 | g.42536591C>A | CA399596075 | NAGLU | c.319C>A (p.Gln107Lys) c.69C>A c.62C>A (p.Ser21Ter) c.-424C>A (n.-424C>A) | gnomAD v4 |
17 | g.42536591C= | CA2260526832 | NAGLU | c.319C= (p.Gln107=) c.69C= c.62C= (p.Ser21=) c.-424C= (n.-424C=) | |
17 | g.42536591C>G | CA399596076 | NAGLU | c.319C>G (p.Gln107Glu) c.69C>G c.62C>G (p.Ser21Ter) c.-424C>G (n.-424C>G) | gnomAD v4 |
17 | g.42536591C>T | CA399596077 | NAGLU | c.319C>T (p.Gln107Ter) c.69C>T c.62C>T (p.Ser21Leu) c.-424C>T (n.-424C>T) | gnomAD v4 |
17 | g.42536592A>C | CA399596079 | NAGLU | c.320A>C (p.Gln107Pro) c.70A>C c.63A>C (p.Ser21=) c.-423A>C (n.-423A>C) | |
17 | g.42536592A>G | CA399596081 | NAGLU | c.320A>G (p.Gln107Arg) c.70A>G c.63A>G (p.Ser21=) c.-423A>G (n.-423A>G) | ClinVar gnomAD v4 |
17 | g.42536592A>T | CA399596083 | NAGLU | c.320A>T (p.Gln107Leu) c.70A>T c.63A>T (p.Ser21=) c.-423A>T (n.-423A>T) | |
17 | g.42536592dup | CA2260526833 | NAGLU | c.320dup (p.Leu108AlafsTer?) c.70dup c.63dup (p.Ala22SerfsTer15) c.-423dup (n.-423dup) c.320dup (p.Leu108AlafsTer28) | dbSNP |
17 | g.42536593G>A | CA8576701 | NAGLU | c.321G>A (p.Gln107=) c.71G>A c.64G>A (p.Ala22Thr) c.-422G>A (n.-422G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42536593G>C | CA399596086 | NAGLU | c.321G>C (p.Gln107His) c.71G>C c.64G>C (p.Ala22Pro) c.-422G>C (n.-422G>C) | gnomAD v4 |
17 | g.42536593G= | CA2260526834 | NAGLU | c.321G= (p.Gln107=) c.71G= c.64G= (p.Ala22=) c.-422G= (n.-422G=) | |
17 | g.42536593G>T | CA399596088 | NAGLU | c.321G>T (p.Gln107His) c.71G>T c.64G>T (p.Ala22Ser) c.-422G>T (n.-422G>T) | gnomAD v4 |
17 | g.42536594C>A | CA399596090 | NAGLU | c.322C>A (p.Leu108Met) c.72C>A c.65C>A (p.Ala22Asp) c.-421C>A (n.-421C>A) | gnomAD v4 |
17 | g.42536594C= | CA2260526835 | NAGLU | c.322C= (p.Leu108=) c.72C= c.65C= (p.Ala22=) c.-421C= (n.-421C=) | |
17 | g.42536594C>G | CA399596092 | NAGLU | c.322C>G (p.Leu108Val) c.72C>G c.65C>G (p.Ala22Gly) c.-421C>G (n.-421C>G) | |
17 | g.42536594C>T | CA399596094 | NAGLU | c.322C>T (p.Leu108=) c.72C>T c.65C>T (p.Ala22Val) c.-421C>T (n.-421C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536595T>A | CA399596099 | NAGLU | c.323T>A (p.Leu108Gln) c.73T>A c.66T>A (p.Ala22=) c.-420T>A (n.-420T>A) | gnomAD v4 |
17 | g.42536595T>C | CA399596097 | NAGLU | c.323T>C (p.Leu108Pro) c.73T>C c.66T>C (p.Ala22=) c.-420T>C (n.-420T>C) | dbSNP gnomAD v4 |
17 | g.42536595T>G | CA399596096 | NAGLU | c.323T>G (p.Leu108Arg) c.73T>G c.66T>G (p.Ala22=) c.-420T>G (n.-420T>G) | |
17 | g.42536595T= | CA2260526836 | NAGLU | c.323T= (p.Leu108=) c.73T= c.66T= (p.Ala22=) c.-420T= (n.-420T=) | |
17 | g.42536596G>A | CA399596101 | NAGLU | c.324G>A (p.Leu108=) c.74G>A c.67G>A (p.Ala23Thr) c.-419G>A (n.-419G>A) | gnomAD v4 |
17 | g.42536596G>C | CA399596102 | NAGLU | c.324G>C (p.Leu108=) c.74G>C c.67G>C (p.Ala23Pro) c.-419G>C (n.-419G>C) | |
17 | g.42536596G>T | CA399596104 | NAGLU | c.324G>T (p.Leu108=) c.74G>T c.67G>T (p.Ala23Ser) c.-419G>T (n.-419G>T) | |
17 | g.42536597C>A | CA399596107 | NAGLU | c.325C>A (p.Arg109Ser) c.75C>A c.68C>A (p.Ala23Glu) c.-418C>A (n.-418C>A) | gnomAD v4 |
17 | g.42536597C>G | CA399596108 | NAGLU | c.325C>G (p.Arg109Gly) c.75C>G c.68C>G (p.Ala23Gly) c.-418C>G (n.-418C>G) | |
17 | g.42536597C>T | CA399596109 | NAGLU | c.325C>T (p.Arg109Cys) c.75C>T c.68C>T (p.Ala23Val) c.-418C>T (n.-418C>T) | gnomAD v4 |
17 | g.42536598del | CA2695226052 | NAGLU | c.326del (p.Arg109ProfsTer13) c.76del c.69del (p.Pro24LeufsTer26) c.-417del (n.-417del) | |
17 | g.42536598G>A | CA399596114 | NAGLU | c.326G>A (p.Arg109His) c.76G>A c.69G>A (p.Ala23=) c.-417G>A (n.-417G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536598G>C | CA399596113 | NAGLU | c.326G>C (p.Arg109Pro) c.76G>C c.69G>C (p.Ala23=) c.-417G>C (n.-417G>C) | |
17 | g.42536598G= | CA2260526837 | NAGLU | c.326G= (p.Arg109=) c.76G= c.69G= (p.Ala23=) c.-417G= (n.-417G=) | |
17 | g.42536598G>T | CA399596112 | NAGLU | c.326G>T (p.Arg109Leu) c.76G>T c.69G>T (p.Ala23=) c.-417G>T (n.-417G>T) | ClinVar gnomAD v4 |
17 | g.42536599C>A | CA399596116 | NAGLU | c.327C>A (p.Arg109=) c.77C>A c.70C>A (p.Pro24Thr) c.-416C>A (n.-416C>A) | ClinVar gnomAD v4 |
17 | g.42536599C>G | CA399596118 | NAGLU | c.327C>G (p.Arg109=) c.77C>G c.70C>G (p.Pro24Ala) c.-416C>G (n.-416C>G) | |
17 | g.42536599C>T | CA399596119 | NAGLU | c.327C>T (p.Arg109=) c.77C>T c.70C>T (p.Pro24Ser) c.-416C>T (n.-416C>T) | ClinVar dbSNP gnomAD v4 |
17 | g.42536600C>A | CA399596121 | NAGLU | c.328C>A (p.Leu110Met) c.78C>A c.71C>A (p.Pro24His) c.-415C>A (n.-415C>A) | gnomAD v4 |
17 | g.42536600C= | CA2260526839 | NAGLU | c.328C= (p.Leu110=) c.78C= c.71C= (p.Pro24=) c.-415C= (n.-415C=) | |
17 | g.42536600C>G | CA399596123 | NAGLU | c.328C>G (p.Leu110Val) c.78C>G c.71C>G (p.Pro24Arg) c.-415C>G (n.-415C>G) | |
17 | g.42536600C>T | CA399596125 | NAGLU | c.328C>T (p.Leu110=) c.78C>T c.71C>T (p.Pro24Leu) c.-415C>T (n.-415C>T) | dbSNP gnomAD v4 |
17 | g.42536600_42536601delinsCT | CA2260526838 | NAGLU | c.328_329delinsCT (p.Leu110=) c.78_79delinsCT c.71_72delinsCT (p.Pro24=) c.-415_-414delinsCT (n.-415_-414delinsCT) | |
17 | g.42536605_42536616del | CA2740095358 | NAGLU | c.333_344del (p.Arg112_Pro115del) c.83_94del c.76_87del (p.Ala26_Ala29del) c.-410_-399del (n.-410_-399del) | ClinVar |
17 | g.42536601del | CA772109676 | NAGLU | c.329del (p.Leu110ArgfsTer12) c.79del c.72del (p.Ala25ProfsTer25) c.-414del (n.-414del) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536601T>A | CA399596127 | NAGLU | c.329T>A (p.Leu110Gln) c.79T>A c.72T>A (p.Pro24=) c.-414T>A (n.-414T>A) | gnomAD v4 |
17 | g.42536601T>C | CA399596130 | NAGLU | c.329T>C (p.Leu110Pro) c.79T>C c.72T>C (p.Pro24=) c.-414T>C (n.-414T>C) | gnomAD v4 |
17 | g.42536601T>G | CA399596129 | NAGLU | c.329T>G (p.Leu110Arg) c.79T>G c.72T>G (p.Pro24=) c.-414T>G (n.-414T>G) | gnomAD v4 |
17 | g.42536601dup | CA2580093764 | NAGLU | c.329dup (p.Pro111AlafsTer?) c.79dup c.72dup (p.Ala25CysfsTer12) c.-414dup (n.-414dup) c.329dup (p.Pro111AlafsTer25) | ClinVar |
17 | g.42536602G>A | CA399596133 | NAGLU | c.330G>A (p.Leu110=) c.80G>A c.73G>A (p.Ala25Thr) c.-413G>A (n.-413G>A) | gnomAD v4 |
17 | g.42536602G>C | CA399596134 | NAGLU | c.330G>C (p.Leu110=) c.80G>C c.73G>C (p.Ala25Pro) c.-413G>C (n.-413G>C) | gnomAD v4 |
17 | g.42536602G= | CA2260526840 | NAGLU | c.330G= (p.Leu110=) c.80G= c.73G= (p.Ala25=) c.-413G= (n.-413G=) | |
17 | g.42536602G>T | CA399596135 | NAGLU | c.330G>T (p.Leu110=) c.80G>T c.73G>T (p.Ala25Ser) c.-413G>T (n.-413G>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536603C>A | CA399596137 | NAGLU | c.331C>A (p.Pro111Thr) c.81C>A c.74C>A (p.Ala25Asp) c.-412C>A (n.-412C>A) | gnomAD v4 |
17 | g.42536603C>G | CA399596139 | NAGLU | c.331C>G (p.Pro111Ala) c.81C>G c.74C>G (p.Ala25Gly) c.-412C>G (n.-412C>G) | |
17 | g.42536603C>T | CA399596141 | NAGLU | c.331C>T (p.Pro111Ser) c.81C>T c.74C>T (p.Ala25Val) c.-412C>T (n.-412C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536604C>A | CA399596143 | NAGLU | c.332C>A (p.Pro111Gln) c.82C>A c.75C>A (p.Ala25=) c.-411C>A (n.-411C>A) | gnomAD v4 |
17 | g.42536604C= | CA2260526841 | NAGLU | c.332C= (p.Pro111=) c.82C= c.75C= (p.Ala25=) c.-411C= (n.-411C=) | |
17 | g.42536604C>G | CA399596145 | NAGLU | c.332C>G (p.Pro111Arg) c.82C>G c.75C>G (p.Ala25=) c.-411C>G (n.-411C>G) | dbSNP gnomAD v4 |
17 | g.42536604C>T | CA399596147 | NAGLU | c.332C>T (p.Pro111Leu) c.82C>T c.75C>T (p.Ala25=) c.-411C>T (n.-411C>T) | ClinVar dbSNP gnomAD v4 |
17 | g.42536605G>A | CA399596148 | NAGLU | c.333G>A (p.Pro111=) c.83G>A c.76G>A (p.Ala26Thr) c.-410G>A (n.-410G>A) | gnomAD v4 |
17 | g.42536605G>C | CA399596150 | NAGLU | c.333G>C (p.Pro111=) c.83G>C c.76G>C (p.Ala26Pro) c.-410G>C (n.-410G>C) | |
17 | g.42536605G>T | CA399596151 | NAGLU | c.333G>T (p.Pro111=) c.83G>T c.76G>T (p.Ala26Ser) c.-410G>T (n.-410G>T) | gnomAD v4 |
17 | g.42536606_42536630del | CA2573130377 | NAGLU | c.334_358del (p.Arg112SerfsTer2) c.84_108del c.77_101del (p.Ala26GlufsTer16) c.-409_-385del (n.-409_-385del) | |
17 | g.42536606C>A | CA399596153 | NAGLU | c.334C>A (p.Arg112=) c.84C>A c.77C>A (p.Ala26Glu) c.-409C>A (n.-409C>A) | gnomAD v4 |
17 | g.42536606C>G | CA399596155 | NAGLU | c.334C>G (p.Arg112Gly) c.84C>G c.77C>G (p.Ala26Gly) c.-409C>G (n.-409C>G) | |
17 | g.42536606C>T | CA399596152 | NAGLU | c.334C>T (p.Arg112Trp) c.84C>T c.77C>T (p.Ala26Val) c.-409C>T (n.-409C>T) | gnomAD v4 |
17 | g.42536607G>A | CA399596158 | NAGLU | c.335G>A (p.Arg112Gln) c.85G>A c.78G>A (p.Ala26=) c.-408G>A (n.-408G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536607G>C | CA399596157 | NAGLU | c.335G>C (p.Arg112Pro) c.85G>C c.78G>C (p.Ala26=) c.-408G>C (n.-408G>C) | |
17 | g.42536607G= | CA2260526842 | NAGLU | c.335G= (p.Arg112=) c.85G= c.78G= (p.Ala26=) c.-408G= (n.-408G=) | |
17 | g.42536607G>T | CA290771388 | NAGLU | c.335G>T (p.Arg112Leu) c.85G>T c.78G>T (p.Ala26=) c.-408G>T (n.-408G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536608G>A | CA399596161 | NAGLU | c.336G>A (p.Arg112=) c.86G>A c.79G>A (p.Ala27Thr) c.-407G>A (n.-407G>A) | gnomAD v4 |
17 | g.42536608G>C | CA399596163 | NAGLU | c.336G>C (p.Arg112=) c.86G>C c.79G>C (p.Ala27Pro) c.-407G>C (n.-407G>C) | gnomAD v4 |
17 | g.42536608G= | CA2260526843 | NAGLU | c.336G= (p.Arg112=) c.86G= c.79G= (p.Ala27=) c.-407G= (n.-407G=) | |
17 | g.42536608G>T | CA399596162 | NAGLU | c.336G>T (p.Arg112=) c.86G>T c.79G>T (p.Ala27Ser) c.-407G>T (n.-407G>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536609C>A | CA399596165 | NAGLU | c.337C>A (p.Pro113Thr) c.87C>A c.80C>A (p.Ala27Asp) c.-406C>A (n.-406C>A) | gnomAD v4 |
17 | g.42536609C= | CA2260526844 | NAGLU | c.337C= (p.Pro113=) c.87C= c.80C= (p.Ala27=) c.-406C= (n.-406C=) | |
17 | g.42536609C>G | CA399596168 | NAGLU | c.337C>G (p.Pro113Ala) c.87C>G c.80C>G (p.Ala27Gly) c.-406C>G (n.-406C>G) | |
17 | g.42536609C>T | CA399596167 | NAGLU | c.337C>T (p.Pro113Ser) c.87C>T c.80C>T (p.Ala27Val) c.-406C>T (n.-406C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.42536610C>A | CA399596169 | NAGLU | c.338C>A (p.Pro113Gln) c.88C>A c.81C>A (p.Ala27=) c.-405C>A (n.-405C>A) | gnomAD v4 |
17 | g.42536610C= | CA2260526845 | NAGLU | c.338C= (p.Pro113=) c.88C= c.81C= (p.Ala27=) c.-405C= (n.-405C=) | |
17 | g.42536610C>G | CA399596171 | NAGLU | c.338C>G (p.Pro113Arg) c.88C>G c.81C>G (p.Ala27=) c.-405C>G (n.-405C>G) | |
17 | g.42536610C>T | CA290771394 | NAGLU | c.338C>T (p.Pro113Leu) c.88C>T c.81C>T (p.Ala27=) c.-405C>T (n.-405C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536611A>C | CA399596173 | NAGLU | c.339A>C (p.Pro113=) c.89A>C c.82A>C (p.Thr28Pro) c.-404A>C (n.-404A>C) | |
17 | g.42536611A>G | CA399596175 | NAGLU | c.339A>G (p.Pro113=) c.89A>G c.82A>G (p.Thr28Ala) c.-404A>G (n.-404A>G) | gnomAD v4 |
17 | g.42536611A>T | CA399596177 | NAGLU | c.339A>T (p.Pro113=) c.89A>T c.82A>T (p.Thr28Ser) c.-404A>T (n.-404A>T) | ClinVar dbSNP gnomAD v4 |
17 | g.42536612C>A | CA399596178 | NAGLU | c.340C>A (p.Leu114Met) c.90C>A c.83C>A (p.Thr28Asn) c.-403C>A (n.-403C>A) | gnomAD v4 |
17 | g.42536612C>G | CA399596180 | NAGLU | c.340C>G (p.Leu114Val) c.90C>G c.83C>G (p.Thr28Ser) c.-403C>G (n.-403C>G) | gnomAD v4 |
17 | g.42536612C>T | CA399596182 | NAGLU | c.340C>T (p.Leu114=) c.90C>T c.83C>T (p.Thr28Ile) c.-403C>T (n.-403C>T) | ClinVar dbSNP gnomAD v4 |
17 | g.42536613T>A | CA399596185 | NAGLU | c.341T>A (p.Leu114Gln) c.91T>A c.84T>A (p.Thr28=) c.-402T>A (n.-402T>A) | |
17 | g.42536613T>C | CA399596186 | NAGLU | c.341T>C (p.Leu114Pro) c.91T>C c.84T>C (p.Thr28=) c.-402T>C (n.-402T>C) | gnomAD v4 |
17 | g.42536613T>G | CA399596188 | NAGLU | c.341T>G (p.Leu114Arg) c.91T>G c.84T>G (p.Thr28=) c.-402T>G (n.-402T>G) | |
17 | g.42536614G>A | CA8576702 | NAGLU | c.342G>A (p.Leu114=) c.92G>A c.85G>A (p.Ala29Thr) c.-401G>A (n.-401G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42536614G>C | CA399596193 | NAGLU | c.342G>C (p.Leu114=) c.92G>C c.85G>C (p.Ala29Pro) c.-401G>C (n.-401G>C) | gnomAD v4 |
17 | g.42536614G= | CA2260526846 | NAGLU | c.342G= (p.Leu114=) c.92G= c.85G= (p.Ala29=) c.-401G= (n.-401G=) | |
17 | g.42536614G>T | CA399596191 | NAGLU | c.342G>T (p.Leu114=) c.92G>T c.85G>T (p.Ala29Ser) c.-401G>T (n.-401G>T) | gnomAD v4 |
17 | g.42536614_42536615del | CA2695226053 | NAGLU | c.342_343del (p.Pro115SerfsTer?) c.92_93del c.85_86del (p.Ala29GlnfsTer7) c.-401_-400del (n.-401_-400del) c.342_343del (p.Pro115SerfsTer20) | |
17 | g.42536615C>A | CA399596195 | NAGLU | c.343C>A (p.Pro115Thr) c.93C>A c.86C>A (p.Ala29Asp) c.-400C>A (n.-400C>A) | gnomAD v4 |
17 | g.42536615C= | CA2260526847 | NAGLU | c.343C= (p.Pro115=) c.93C= c.86C= (p.Ala29=) c.-400C= (n.-400C=) | |
17 | g.42536615C>G | CA399596197 | NAGLU | c.343C>G (p.Pro115Ala) c.93C>G c.86C>G (p.Ala29Gly) c.-400C>G (n.-400C>G) | gnomAD v4 |
17 | g.42536615C>T | CA8576703 | NAGLU | c.343C>T (p.Pro115Ser) c.93C>T c.86C>T (p.Ala29Val) c.-400C>T (n.-400C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42536616del | CA2637966337 | NAGLU | c.344del (p.Pro115GlnfsTer7) c.94del c.87del (p.Ser30AlafsTer20) c.-399del (n.-399del) | gnomAD v4 |
17 | g.42536616C>A | CA399596200 | NAGLU | c.344C>A (p.Pro115Gln) c.94C>A c.87C>A (p.Ala29=) c.-399C>A (n.-399C>A) | gnomAD v4 |
17 | g.42536616C= | CA2260526848 | NAGLU | c.344C= (p.Pro115=) c.94C= c.87C= (p.Ala29=) c.-399C= (n.-399C=) | |
17 | g.42536616C>G | CA399596202 | NAGLU | c.344C>G (p.Pro115Arg) c.94C>G c.87C>G (p.Ala29=) c.-399C>G (n.-399C>G) | gnomAD v4 |
17 | g.42536616C>T | CA399596203 | NAGLU | c.344C>T (p.Pro115Leu) c.94C>T c.87C>T (p.Ala29=) c.-399C>T (n.-399C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536617A= | CA2260526849 | NAGLU | c.345A= (p.Pro115=) c.95A= c.88A= (p.Ser30=) c.-398A= (n.-398A=) | |
17 | g.42536617A>C | CA399596205 | NAGLU | c.345A>C (p.Pro115=) c.95A>C c.88A>C (p.Ser30Arg) c.-398A>C (n.-398A>C) | dbSNP |
17 | g.42536617A>G | CA399596207 | NAGLU | c.345A>G (p.Pro115=) c.95A>G c.88A>G (p.Ser30Gly) c.-398A>G (n.-398A>G) | ClinVar dbSNP gnomAD v4 |
17 | g.42536617A>T | CA399596209 | NAGLU | c.345A>T (p.Pro115=) c.95A>T c.88A>T (p.Ser30Cys) c.-398A>T (n.-398A>T) | dbSNP |
17 | g.42536618G>A | CA399596212 | NAGLU | c.346G>A (p.Ala116Thr) c.96G>A c.89G>A (p.Ser30Asn) c.-397G>A (n.-397G>A) | gnomAD v4 |
17 | g.42536618G>C | CA399596214 | NAGLU | c.346G>C (p.Ala116Pro) c.96G>C c.89G>C (p.Ser30Thr) c.-397G>C (n.-397G>C) | gnomAD v4 |
17 | g.42536618G>T | CA399596211 | NAGLU | c.346G>T (p.Ala116Ser) c.96G>T c.89G>T (p.Ser30Ile) c.-397G>T (n.-397G>T) | gnomAD v4 |
17 | g.42536619C>A | CA399596219 | NAGLU | c.347C>A (p.Ala116Asp) c.97C>A c.90C>A (p.Ser30Arg) c.-396C>A (n.-396C>A) | dbSNP gnomAD v4 |
17 | g.42536619C= | CA2260526850 | NAGLU | c.347C= (p.Ala116=) c.97C= c.90C= (p.Ser30=) c.-396C= (n.-396C=) | |
17 | g.42536619C>G | CA399596221 | NAGLU | c.347C>G (p.Ala116Gly) c.97C>G c.90C>G (p.Ser30Arg) c.-396C>G (n.-396C>G) | |
17 | g.42536619C>T | CA399596223 | NAGLU | c.347C>T (p.Ala116Val) c.97C>T c.90C>T (p.Ser30=) c.-396C>T (n.-396C>T) | dbSNP gnomAD v4 |
17 | g.42536620C>A | CA399596225 | NAGLU | c.348C>A (p.Ala116=) c.98C>A c.91C>A (p.Arg31Ser) c.-395C>A (n.-395C>A) | ClinVar dbSNP gnomAD v4 |
17 | g.42536620C= | CA2260526851 | NAGLU | c.348C= (p.Ala116=) c.98C= c.91C= (p.Arg31=) c.-395C= (n.-395C=) | |
17 | g.42536620C>G | CA290771414 | NAGLU | c.348C>G (p.Ala116=) c.98C>G c.91C>G (p.Arg31Gly) c.-395C>G (n.-395C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536620C>T | CA8576704 | NAGLU | c.348C>T (p.Ala116=) c.98C>T c.91C>T (p.Arg31Cys) c.-395C>T (n.-395C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536621G>A | CA399596229 | NAGLU | c.349G>A (p.Val117Met) c.99G>A c.92G>A (p.Arg31His) c.-394G>A (n.-394G>A) | gnomAD v4 |
17 | g.42536621G>C | CA399596231 | NAGLU | c.349G>C (p.Val117Leu) c.99G>C c.92G>C (p.Arg31Pro) c.-394G>C (n.-394G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536621G= | CA2260526852 | NAGLU | c.349G= (p.Val117=) c.99G= c.92G= (p.Arg31=) c.-394G= (n.-394G=) | |
17 | g.42536621G>T | CA290771419 | NAGLU | c.349G>T (p.Val117Leu) c.99G>T c.92G>T (p.Arg31Leu) c.-394G>T (n.-394G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536622T>A | CA399596234 | NAGLU | c.350T>A (p.Val117Glu) c.100T>A c.93T>A (p.Arg31=) c.-393T>A (n.-393T>A) | dbSNP gnomAD v4 |
17 | g.42536622T>C | CA8576705 | NAGLU | c.350T>C (p.Val117Ala) c.100T>C c.93T>C (p.Arg31=) c.-393T>C (n.-393T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42536622T>G | CA399596236 | NAGLU | c.350T>G (p.Val117Gly) c.100T>G c.93T>G (p.Arg31=) c.-393T>G (n.-393T>G) | |
17 | g.42536622T= | CA2260526853 | NAGLU | c.350T= (p.Val117=) c.100T= c.93T= (p.Arg31=) c.-393T= (n.-393T=) | |
17 | g.42536623del | CA2695226054 | NAGLU | c.351del (p.Pro118ArgfsTer4) c.101del c.94del (p.Ala32ProfsTer18) c.-392del (n.-392del) | |
17 | g.42536623G>A | CA399596242 | NAGLU | c.351G>A (p.Val117=) c.101G>A c.94G>A (p.Ala32Thr) c.-392G>A (n.-392G>A) | ClinVar gnomAD v4 |
17 | g.42536623G>C | CA399596239 | NAGLU | c.351G>C (p.Val117=) c.101G>C c.94G>C (p.Ala32Pro) c.-392G>C (n.-392G>C) | |
17 | g.42536623G= | CA2260526854 | NAGLU | c.351G= (p.Val117=) c.101G= c.94G= (p.Ala32=) c.-392G= (n.-392G=) | |
17 | g.42536623G>T | CA399596241 | NAGLU | c.351G>T (p.Val117=) c.101G>T c.94G>T (p.Ala32Ser) c.-392G>T (n.-392G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536624C>A | CA399596245 | NAGLU | c.352C>A (p.Pro118Thr) c.102C>A c.95C>A (p.Ala32Asp) c.-391C>A (n.-391C>A) | gnomAD v4 |
17 | g.42536624C= | CA2260526855 | NAGLU | c.352C= (p.Pro118=) c.102C= c.95C= (p.Ala32=) c.-391C= (n.-391C=) | |
17 | g.42536624C>G | CA399596247 | NAGLU | c.352C>G (p.Pro118Ala) c.102C>G c.95C>G (p.Ala32Gly) c.-391C>G (n.-391C>G) | |
17 | g.42536624C>T | CA8576706 | NAGLU | c.352C>T (p.Pro118Ser) c.102C>T c.95C>T (p.Ala32Val) c.-391C>T (n.-391C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42536625C>A | CA399596250 | NAGLU | c.353C>A (p.Pro118Gln) c.103C>A c.96C>A (p.Ala32=) c.-390C>A (n.-390C>A) | gnomAD v4 |
17 | g.42536625C= | CA2260526856 | NAGLU | c.353C= (p.Pro118=) c.103C= c.96C= (p.Ala32=) c.-390C= (n.-390C=) | |
17 | g.42536625C>G | CA399596252 | NAGLU | c.353C>G (p.Pro118Arg) c.103C>G c.96C>G (p.Ala32=) c.-390C>G (n.-390C>G) | gnomAD v2 gnomAD v4 |
17 | g.42536625C>T | CA8576707 | NAGLU | c.353C>T (p.Pro118Leu) c.103C>T c.96C>T (p.Ala32=) c.-390C>T (n.-390C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536626G>A | CA8576708 | NAGLU | c.354G>A (p.Pro118=) c.104G>A c.97G>A (p.Gly33Arg) c.-389G>A (n.-389G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42536626G>C | CA399596255 | NAGLU | c.354G>C (p.Pro118=) c.104G>C c.97G>C (p.Gly33Arg) c.-389G>C (n.-389G>C) | ClinVar dbSNP gnomAD v4 |
17 | g.42536626G= | CA2260526857 | NAGLU | c.354G= (p.Pro118=) c.104G= c.97G= (p.Gly33=) c.-389G= (n.-389G=) | |
17 | g.42536626G>T | CA399596257 | NAGLU | c.354G>T (p.Pro118=) c.104G>T c.97G>T (p.Gly33Trp) c.-389G>T (n.-389G>T) | ClinVar gnomAD v4 |
17 | g.42536630dup | CA2637966345 | NAGLU | c.358dup (p.Glu120GlyfsTer?) c.108dup c.101dup (p.Ala35SerfsTer2) c.-385dup (n.-385dup) c.358dup (p.Glu120GlyfsTer16) | gnomAD v4 |
17 | g.42536630del | CA626218517 | NAGLU | c.358del (p.Glu120SerfsTer2) c.108del c.101del (p.Gly34GlufsTer16) c.-385del (n.-385del) | gnomAD v2 gnomAD v4 |
17 | g.42536627G>A | CA399596259 | NAGLU | c.355G>A (p.Gly119Arg) c.105G>A c.98G>A (p.Gly33Glu) c.-388G>A (n.-388G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536627G>C | CA399596261 | NAGLU | c.355G>C (p.Gly119Arg) c.105G>C c.98G>C (p.Gly33Ala) c.-388G>C (n.-388G>C) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536627G= | CA2260526858 | NAGLU | c.355G= (p.Gly119=) c.105G= c.98G= (p.Gly33=) c.-388G= (n.-388G=) | |
17 | g.42536627G>T | CA399596263 | NAGLU | c.355G>T (p.Gly119Trp) c.105G>T c.98G>T (p.Gly33Val) c.-388G>T (n.-388G>T) | gnomAD v4 |
17 | g.42536628G>A | CA399596268 | NAGLU | c.356G>A (p.Gly119Glu) c.106G>A c.99G>A (p.Gly33=) c.-387G>A (n.-387G>A) | gnomAD v4 |
17 | g.42536628G>C | CA399596266 | NAGLU | c.356G>C (p.Gly119Ala) c.106G>C c.99G>C (p.Gly33=) c.-387G>C (n.-387G>C) | gnomAD v4 |
17 | g.42536628G>T | CA399596265 | NAGLU | c.356G>T (p.Gly119Val) c.106G>T c.99G>T (p.Gly33=) c.-387G>T (n.-387G>T) | gnomAD v4 |
17 | g.42536629G>A | CA399596270 | NAGLU | c.357G>A (p.Gly119=) c.107G>A c.100G>A (p.Gly34Arg) c.-386G>A (n.-386G>A) | gnomAD v4 |
17 | g.42536629G>C | CA399596271 | NAGLU | c.357G>C (p.Gly119=) c.107G>C c.100G>C (p.Gly34Arg) c.-386G>C (n.-386G>C) | |
17 | g.42536629G>T | CA399596273 | NAGLU | c.357G>T (p.Gly119=) c.107G>T c.100G>T (p.Gly34Ter) c.-386G>T (n.-386G>T) | gnomAD v4 |
17 | g.42536630G>A | CA399596276 | NAGLU | c.358G>A (p.Glu120Lys) c.108G>A c.101G>A (p.Gly34Glu) c.-385G>A (n.-385G>A) | dbSNP gnomAD v4 |
17 | g.42536630G>C | CA399596277 | NAGLU | c.358G>C (p.Glu120Gln) c.108G>C c.101G>C (p.Gly34Ala) c.-385G>C (n.-385G>C) | |
17 | g.42536630G= | CA2260526859 | NAGLU | c.358G= (p.Glu120=) c.108G= c.101G= (p.Gly34=) c.-385G= (n.-385G=) | |
17 | g.42536630G>T | CA399596279 | NAGLU | c.358G>T (p.Glu120Ter) c.108G>T c.101G>T (p.Gly34Val) c.-385G>T (n.-385G>T) | ClinVar dbSNP gnomAD v4 |
17 | g.42536631A= | CA2260526860 | NAGLU | c.359A= (p.Glu120=) c.109A= c.102A= (p.Gly34=) c.-384A= (n.-384A=) | |
17 | g.42536631A>C | CA399596284 | NAGLU | c.359A>C (p.Glu120Ala) c.109A>C c.102A>C (p.Gly34=) c.-384A>C (n.-384A>C) | |
17 | g.42536631A>G | CA399596283 | NAGLU | c.359A>G (p.Glu120Gly) c.109A>G c.102A>G (p.Gly34=) c.-384A>G (n.-384A>G) | ClinVar dbSNP gnomAD v4 |
17 | g.42536631A>T | CA399596281 | NAGLU | c.359A>T (p.Glu120Val) c.109A>T c.102A>T (p.Gly34=) c.-384A>T (n.-384A>T) | gnomAD v4 |
17 | g.42536632G>A | CA399596287 | NAGLU | c.360G>A (p.Glu120=) c.110G>A c.103G>A (p.Ala35Thr) c.-383G>A (n.-383G>A) | gnomAD v4 |
17 | g.42536632G>C | CA399596288 | NAGLU | c.360G>C (p.Glu120Asp) c.110G>C c.103G>C (p.Ala35Pro) c.-383G>C (n.-383G>C) | |
17 | g.42536632G>T | CA399596290 | NAGLU | c.360G>T (p.Glu120Asp) c.110G>T c.103G>T (p.Ala35Ser) c.-383G>T (n.-383G>T) | gnomAD v4 |
17 | g.42536633C>A | CA399596292 | NAGLU | c.361C>A (p.Leu121Met) c.111C>A c.104C>A (p.Ala35Asp) c.-382C>A (n.-382C>A) | gnomAD v4 |
17 | g.42536633C>G | CA399596293 | NAGLU | c.361C>G (p.Leu121Val) c.111C>G c.104C>G (p.Ala35Gly) c.-382C>G (n.-382C>G) | gnomAD v4 |
17 | g.42536633C>T | CA399596294 | NAGLU | c.361C>T (p.Leu121=) c.111C>T c.104C>T (p.Ala35Val) c.-382C>T (n.-382C>T) | gnomAD v4 |
17 | g.42536634T>A | CA399596295 | NAGLU | c.362T>A (p.Leu121Gln) c.112T>A c.105T>A (p.Ala35=) c.-381T>A (n.-381T>A) | |
17 | g.42536634T>C | CA399596298 | NAGLU | c.362T>C (p.Leu121Pro) c.112T>C c.105T>C (p.Ala35=) c.-381T>C (n.-381T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536634T>G | CA399596296 | NAGLU | c.362T>G (p.Leu121Arg) c.112T>G c.105T>G (p.Ala35=) c.-381T>G (n.-381T>G) | |
17 | g.42536634T= | CA2260526861 | NAGLU | c.362T= (p.Leu121=) c.112T= c.105T= (p.Ala35=) c.-381T= (n.-381T=) | |
17 | g.42536635G>A | CA399596300 | NAGLU | c.363G>A (p.Leu121=) c.113G>A c.106G>A (p.Asp36Asn) c.-380G>A (n.-380G>A) | gnomAD v4 |
17 | g.42536635G>C | CA399596301 | NAGLU | c.363G>C (p.Leu121=) c.113G>C c.106G>C (p.Asp36His) c.-380G>C (n.-380G>C) | |
17 | g.42536635G>T | CA399596303 | NAGLU | c.363G>T (p.Leu121=) c.113G>T c.106G>T (p.Asp36Tyr) c.-380G>T (n.-380G>T) | gnomAD v4 |
17 | g.42536636A>C | CA399596304 | NAGLU | c.364A>C (p.Thr122Pro) c.114A>C c.107A>C (p.Asp36Ala) c.-379A>C (n.-379A>C) | |
17 | g.42536636A>G | CA399596307 | NAGLU | c.364A>G (p.Thr122Ala) c.114A>G c.107A>G (p.Asp36Gly) c.-379A>G (n.-379A>G) | gnomAD v4 |
17 | g.42536636A>T | CA399596309 | NAGLU | c.364A>T (p.Thr122Ser) c.114A>T c.107A>T (p.Asp36Val) c.-379A>T (n.-379A>T) | |
17 | g.42536636_42536637insGGAAGACT | CA2741536694 | NAGLU | c.364_365insGGAAGACT (p.Thr122ArgfsTer?) c.114_115insGGAAGACT c.107_108insGGAAGACT (p.Asp36GlufsTer17) c.-379_-378insGGAAGACT (n.-379_-378insGGAAGACT) | |
17 | g.42536637C>A | CA399596312 | NAGLU | c.365C>A (p.Thr122Asn) c.115C>A c.108C>A (p.Asp36Glu) c.-378C>A (n.-378C>A) | gnomAD v4 |
17 | g.42536637C>G | CA399596313 | NAGLU | c.365C>G (p.Thr122Ser) c.115C>G c.108C>G (p.Asp36Glu) c.-378C>G (n.-378C>G) | gnomAD v4 |
17 | g.42536637C>T | CA399596315 | NAGLU | c.365C>T (p.Thr122Ile) c.115C>T c.108C>T (p.Asp36=) c.-378C>T (n.-378C>T) | dbSNP gnomAD v4 |
17 | g.42536638C>A | CA500215955 | NAGLU | c.366C>A (p.Thr122=) c.116C>A c.109C>A (p.Arg37=) c.-377C>A (n.-377C>A) | ClinVar dbSNP gnomAD v4 |
17 | g.42536638C= | CA2260526862 | NAGLU | c.366C= (p.Thr122=) c.116C= c.109C= (p.Arg37=) c.-377C= (n.-377C=) | |
17 | g.42536638C>G | CA8576709 | NAGLU | c.366C>G (p.Thr122=) c.116C>G c.109C>G (p.Arg37Gly) c.-377C>G (n.-377C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42536638C>T | CA399596318 | NAGLU | c.366C>T (p.Thr122=) c.116C>T c.109C>T (p.Arg37Ter) c.-377C>T (n.-377C>T) | dbSNP gnomAD v4 |
17 | g.42536638_42536639insACGTTTCGGCAATAGCGAGACTGCAGTGTTACTGCGAGAAACTCACGTGGCT | CA2741536695 | NAGLU | c.366_367insACGTTTCGGCAATAGCGAGACTGCAGTGTTACTGCGAGAAACTCACGTGGCT (p.Glu123ThrfsTer5) c.116_117insACGTTTCGGCAATAGCGAGACTGCAGTGTTACTGCGAGAAACTCACGTGGCT c.109_110insACGTTTCGGCAATAGCGAGACTGCAGTGTTACTGCGAGAAACTCACGTGGCT (p.Arg37HisfsTer37) c.-377_-376insACGTTTCGGCAATAGCGAGACTGCAGTGTTACTGCGAGAAACTCACGTGGCT (n.-377_-376insACGTTTCGGCAATAGCGAGACTGCAGTGTTACTGCGAGAAACTCACGTGGCT) | |
17 | g.42536639G>A | CA399596320 | NAGLU | c.367G>A (p.Glu123Lys) c.117G>A c.110G>A (p.Arg37Gln) c.-376G>A (n.-376G>A) | gnomAD v4 |
17 | g.42536639G>C | CA399596324 | NAGLU | c.367G>C (p.Glu123Gln) c.117G>C c.110G>C (p.Arg37Pro) c.-376G>C (n.-376G>C) | |
17 | g.42536639G= | CA2260526863 | NAGLU | c.367G= (p.Glu123=) c.117G= c.110G= (p.Arg37=) c.-376G= (n.-376G=) | |
17 | g.42536639G>T | CA248375 | NAGLU | c.367G>T (p.Glu123Ter) c.117G>T c.110G>T (p.Arg37Leu) c.-376G>T (n.-376G>T) | ClinVar dbSNP gnomAD v4 |
17 | g.42536640A>C | CA399596328 | NAGLU | c.368A>C (p.Glu123Ala) c.118A>C c.111A>C (p.Arg37=) c.-375A>C (n.-375A>C) | |
17 | g.42536640A>G | CA399596331 | NAGLU | c.368A>G (p.Glu123Gly) c.118A>G c.111A>G (p.Arg37=) c.-375A>G (n.-375A>G) | gnomAD v4 |
17 | g.42536640A>T | CA399596333 | NAGLU | c.368A>T (p.Glu123Val) c.118A>T c.111A>T (p.Arg37=) c.-375A>T (n.-375A>T) | |
17 | g.42536640_42536646del | CA913012314 | NAGLU | c.368_374del (p.Glu123GlyfsTer30) c.118_124del c.111_117del (p.Gly38ProfsTer10) c.-375_-369del (n.-375_-369del) c.368_374del (p.Glu123GlyfsTer?) | |
17 | g.42536640_42536646delinsAGGCCAC | CA2260526864 | NAGLU | c.368_374delinsAGGCCAC (p.Glu123=) c.118_124delinsAGGCCAC c.111_117delinsAGGCCAC (p.Arg37=) c.-375_-369delinsAGGCCAC (n.-375_-369delinsAGGCCAC) | |
17 | g.42536641G>A | CA399596336 | NAGLU | c.369G>A (p.Glu123=) c.119G>A c.112G>A (p.Gly38Ser) c.-374G>A (n.-374G>A) | gnomAD v4 |
17 | g.42536641G>C | CA399596338 | NAGLU | c.369G>C (p.Glu123Asp) c.119G>C c.112G>C (p.Gly38Arg) c.-374G>C (n.-374G>C) | |
17 | g.42536641G>T | CA399596340 | NAGLU | c.369G>T (p.Glu123Asp) c.119G>T c.112G>T (p.Gly38Cys) c.-374G>T (n.-374G>T) | gnomAD v4 |
17 | g.42536642_42536647del | CA658823948 | NAGLU | c.370_375del (p.Ala124_Thr125del) c.120_125del c.113_118del (p.Gly38_His39del) c.-373_-368del (n.-373_-368del) | ClinVar dbSNP |
17 | g.42536642G>A | CA399596344 | NAGLU | c.370G>A (p.Ala124Thr) c.120G>A c.113G>A (p.Gly38Asp) c.-373G>A (n.-373G>A) | gnomAD v4 |
17 | g.42536642G>C | CA399596349 | NAGLU | c.370G>C (p.Ala124Pro) c.120G>C c.113G>C (p.Gly38Ala) c.-373G>C (n.-373G>C) | gnomAD v4 |
17 | g.42536642G>T | CA399596353 | NAGLU | c.370G>T (p.Ala124Ser) c.120G>T c.113G>T (p.Gly38Val) c.-373G>T (n.-373G>T) | gnomAD v4 |
17 | g.42536643C>A | CA399596356 | NAGLU | c.371C>A (p.Ala124Asp) c.121C>A c.114C>A (p.Gly38=) c.-372C>A (n.-372C>A) | gnomAD v4 |
17 | g.42536643C>G | CA399596359 | NAGLU | c.371C>G (p.Ala124Gly) c.121C>G c.114C>G (p.Gly38=) c.-372C>G (n.-372C>G) | gnomAD v4 |
17 | g.42536643C>T | CA399596362 | NAGLU | c.371C>T (p.Ala124Val) c.121C>T c.114C>T (p.Gly38=) c.-372C>T (n.-372C>T) | gnomAD v4 |
17 | g.42536644C>A | CA399596370 | NAGLU | c.372C>A (p.Ala124=) c.122C>A c.115C>A (p.His39Asn) c.-371C>A (n.-371C>A) | gnomAD v4 |
17 | g.42536644C= | CA2260526865 | NAGLU | c.372C= (p.Ala124=) c.122C= c.115C= (p.His39=) c.-371C= (n.-371C=) | |
17 | g.42536644C>G | CA399596368 | NAGLU | c.372C>G (p.Ala124=) c.122C>G c.115C>G (p.His39Asp) c.-371C>G (n.-371C>G) | dbSNP gnomAD v4 |
17 | g.42536644C>T | CA399596369 | NAGLU | c.372C>T (p.Ala124=) c.122C>T c.115C>T (p.His39Tyr) c.-371C>T (n.-371C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42536645A>C | CA399596375 | NAGLU | c.373A>C (p.Thr125Pro) c.123A>C c.116A>C (p.His39Pro) c.-370A>C (n.-370A>C) | |
17 | g.42536645A>G | CA399596378 | NAGLU | c.373A>G (p.Thr125Ala) c.123A>G c.116A>G (p.His39Arg) c.-370A>G (n.-370A>G) | gnomAD v4 |
17 | g.42536645A>T | CA399596382 | NAGLU | c.373A>T (p.Thr125Ser) c.123A>T c.116A>T (p.His39Leu) c.-370A>T (n.-370A>T) | |
17 | g.42536646C>A | CA399596385 | NAGLU | c.374C>A (p.Thr125Lys) c.124C>A c.117C>A (p.His39Gln) c.-369C>A (n.-369C>A) | gnomAD v4 |
17 | g.42536646C>G | CA399596390 | NAGLU | c.374C>G (p.Thr125Arg) c.124C>G c.117C>G (p.His39Gln) c.-369C>G (n.-369C>G) | |
17 | g.42536646C>T | CA399596392 | NAGLU | c.374C>T (p.Thr125Met) c.124C>T c.117C>T (p.His39=) c.-369C>T (n.-369C>T) | gnomAD v4 |
17 | g.42536647G>A | CA399596393 | NAGLU | c.375G>A (p.Thr125=) c.125G>A c.118G>A (p.Ala40Thr) c.-368G>A (n.-368G>A) | gnomAD v4 |
17 | g.42536647G>C | CA399596395 | NAGLU | c.375G>C (p.Thr125=) c.125G>C c.118G>C (p.Ala40Pro) c.-368G>C (n.-368G>C) | |
17 | g.42536647G>T | CA399596396 | NAGLU | c.375G>T (p.Thr125=) c.125G>T c.118G>T (p.Ala40Ser) c.-368G>T (n.-368G>T) | gnomAD v4 |
17 | g.42536648C>A | CA399596398 | NAGLU | c.376C>A (p.Pro126Thr) c.126C>A c.119C>A (p.Ala40Asp) c.-367C>A (n.-367C>A) | gnomAD v4 |
17 | g.42536648C>G | CA399596402 | NAGLU | c.376C>G (p.Pro126Ala) c.126C>G c.119C>G (p.Ala40Gly) c.-367C>G (n.-367C>G) | |
17 | g.42536648C>T | CA399596405 | NAGLU | c.376C>T (p.Pro126Ser) c.126C>T c.119C>T (p.Ala40Val) c.-367C>T (n.-367C>T) | gnomAD v4 |
17 | g.42536649C>A | CA399596413 | NAGLU | c.377C>A (p.Pro126His) c.127C>A c.120C>A (p.Ala40=) c.-366C>A (n.-366C>A) | gnomAD v4 |
17 | g.42536649C= | CA2260526866 | NAGLU | c.377C= (p.Pro126=) c.127C= c.120C= (p.Ala40=) c.-366C= (n.-366C=) | |
17 | g.42536649C>G | CA399596415 | NAGLU | c.377C>G (p.Pro126Arg) c.127C>G c.120C>G (p.Ala40=) c.-366C>G (n.-366C>G) | |
17 | g.42536649C>T | CA399596410 | NAGLU | c.377C>T (p.Pro126Leu) c.127C>T c.120C>T (p.Ala40=) c.-366C>T (n.-366C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42536650C>A | CA399596423 | NAGLU | c.378C>A (p.Pro126=) c.128C>A c.121C>A (p.Gln41Lys) c.-365C>A (n.-365C>A) | gnomAD v4 |
17 | g.42536650C>G | CA399596419 | NAGLU | c.378C>G (p.Pro126=) c.128C>G c.121C>G (p.Gln41Glu) c.-365C>G (n.-365C>G) | |
17 | g.42536650C>T | CA399596426 | NAGLU | c.378C>T (p.Pro126=) c.128C>T c.121C>T (p.Gln41Ter) c.-365C>T (n.-365C>T) | gnomAD v4 |
17 | g.42536651A>C | CA399596440 | NAGLU | c.379A>C (p.Asn127His) c.129A>C c.122A>C (p.Gln41Pro) c.-364A>C (n.-364A>C) | ClinVar dbSNP |
17 | g.42536651A>G | CA399596442 | NAGLU | c.379A>G (p.Asn127Asp) c.129A>G c.122A>G (p.Gln41Arg) c.-364A>G (n.-364A>G) | gnomAD v4 |
17 | g.42536651A>T | CA399596444 | NAGLU | c.379A>T (p.Asn127Tyr) c.129A>T c.122A>T (p.Gln41Leu) c.-364A>T (n.-364A>T) | |
17 | g.42536652A= | CA2260526867 | NAGLU | c.380A= (p.Asn127=) c.130A= c.123A= (p.Gln41=) c.-363A= (n.-363A=) | |
17 | g.42536652A>C | CA399596449 | NAGLU | c.380A>C (p.Asn127Thr) c.130A>C c.123A>C (p.Gln41His) c.-363A>C (n.-363A>C) | dbSNP |
17 | g.42536652A>G | CA399596456 | NAGLU | c.380A>G (p.Asn127Ser) c.130A>G c.123A>G (p.Gln41=) c.-363A>G (n.-363A>G) | ClinVar gnomAD v4 |
17 | g.42536652A>T | CA399596459 | NAGLU | c.380A>T (p.Asn127Ile) c.130A>T c.123A>T (p.Gln41His) c.-363A>T (n.-363A>T) | gnomAD v4 |
17 | g.42536653C>A | CA399596463 | NAGLU | c.381C>A (p.Asn127Lys) c.131C>A c.124C>A (p.Gln42Lys) c.-362C>A (n.-362C>A) | gnomAD v4 |
17 | g.42536653C= | CA2260526868 | NAGLU | c.381C= (p.Asn127=) c.131C= c.124C= (p.Gln42=) c.-362C= (n.-362C=) | |
17 | g.42536653C>G | CA290771445 | NAGLU | c.381C>G (p.Asn127Lys) c.131C>G c.124C>G (p.Gln42Glu) c.-362C>G (n.-362C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42536653C>T | CA399596469 | NAGLU | c.381C>T (p.Asn127=) c.131C>T c.124C>T (p.Gln42Ter) c.-362C>T (n.-362C>T) | ClinVar dbSNP gnomAD v4 |