Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.42536556A>CCA399595950NAGLUc.284A>C (p.Asp95Ala)
c.34A>C
c.27A>C (p.Arg9=)
c.-459A>C (n.-459A>C)
17g.42536556A>GCA399595952NAGLUc.284A>G (p.Asp95Gly)
c.34A>G
c.27A>G (p.Arg9=)
c.-459A>G (n.-459A>G)
 gnomAD v4
17g.42536556A>TCA399595953NAGLUc.284A>T (p.Asp95Val)
c.34A>T
c.27A>T (p.Arg9=)
c.-459A>T (n.-459A>T)
17g.42536557C>ACA290771383NAGLUc.285C>A (p.Asp95Glu)
c.35C>A
c.28C>A (p.Leu10Ile)
c.-458C>A (n.-458C>A)
 dbSNP gnomAD v4
17g.42536557C=CA2260526816NAGLUc.285C= (p.Asp95=)
c.35C=
c.28C= (p.Leu10=)
c.-458C= (n.-458C=)
17g.42536557C>GCA399595958NAGLUc.285C>G (p.Asp95Glu)
c.35C>G
c.28C>G (p.Leu10Val)
c.-458C>G (n.-458C>G)
 gnomAD v4
17g.42536557C>TCA399595956NAGLUc.285C>T (p.Asp95=)
c.35C>T
c.28C>T (p.Leu10Phe)
c.-458C>T (n.-458C>T)
 gnomAD v4
17g.42536558T>ACA399595961NAGLUc.286T>A (p.Phe96Ile)
c.36T>A
c.29T>A (p.Leu10His)
c.-457T>A (n.-457T>A)
 gnomAD v4
17g.42536558T>CCA399595963NAGLUc.286T>C (p.Phe96Leu)
c.36T>C
c.29T>C (p.Leu10Pro)
c.-457T>C (n.-457T>C)
 gnomAD v4
17g.42536558T>GCA399595965NAGLUc.286T>G (p.Phe96Val)
c.36T>G
c.29T>G (p.Leu10Arg)
c.-457T>G (n.-457T>G)
17g.42536559T>ACA399595967NAGLUc.287T>A (p.Phe96Tyr)
c.37T>A
c.30T>A (p.Leu10=)
c.-456T>A (n.-456T>A)
17g.42536559T>CCA399595969NAGLUc.287T>C (p.Phe96Ser)
c.37T>C
c.30T>C (p.Leu10=)
c.-456T>C (n.-456T>C)
 dbSNP gnomAD v2 gnomAD v4
17g.42536559T>GCA399595971NAGLUc.287T>G (p.Phe96Cys)
c.37T>G
c.30T>G (p.Leu10=)
c.-456T>G (n.-456T>G)
17g.42536559T=CA2260526817NAGLUc.287T= (p.Phe96=)
c.37T=
c.30T= (p.Leu10=)
c.-456T= (n.-456T=)
17g.42536560C>ACA399595974NAGLUc.288C>A (p.Phe96Leu)
c.38C>A
c.31C>A (p.Leu11Met)
c.-455C>A (n.-455C>A)
 gnomAD v4
17g.42536560C=CA2260526818NAGLUc.288C= (p.Phe96=)
c.38C=
c.31C= (p.Leu11=)
c.-455C= (n.-455C=)
17g.42536560C>GCA399595976NAGLUc.288C>G (p.Phe96Leu)
c.38C>G
c.31C>G (p.Leu11Val)
c.-455C>G (n.-455C>G)
 dbSNP gnomAD v2 gnomAD v4
17g.42536560C>TCA8576700NAGLUc.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
17g.42536561T>ACA399595980NAGLUc.289T>A (p.Cys97Ser)
c.39T>A
c.32T>A (p.Leu11Gln)
c.-454T>A (n.-454T>A)
17g.42536561T>CCA399595981NAGLUc.289T>C (p.Cys97Arg)
c.39T>C
c.32T>C (p.Leu11Pro)
c.-454T>C (n.-454T>C)
 gnomAD v4
17g.42536561T>GCA399595982NAGLUc.289T>G (p.Cys97Gly)
c.39T>G
c.32T>G (p.Leu11Arg)
c.-454T>G (n.-454T>G)
17g.42536562G>ACA399595984NAGLUc.290G>A (p.Cys97Tyr)
c.40G>A
c.33G>A (p.Leu11=)
c.-453G>A (n.-453G>A)
 gnomAD v4
17g.42536562G>CCA399595985NAGLUc.290G>C (p.Cys97Ser)
c.40G>C
c.33G>C (p.Leu11=)
c.-453G>C (n.-453G>C)
17g.42536562G>TCA399595983NAGLUc.290G>T (p.Cys97Phe)
c.40G>T
c.33G>T (p.Leu11=)
c.-453G>T (n.-453G>T)
 gnomAD v4
17g.42536563T>ACA399595987NAGLUc.291T>A (p.Cys97Ter)
c.41T>A
c.34T>A (p.Trp12Arg)
c.-452T>A (n.-452T>A)
 gnomAD v4
17g.42536563T>CCA399595986NAGLUc.291T>C (p.Cys97=)
c.41T>C
c.34T>C (p.Trp12Arg)
c.-452T>C (n.-452T>C)
 gnomAD v4
17g.42536563T>GCA399595988NAGLUc.291T>G (p.Cys97Trp)
c.41T>G
c.34T>G (p.Trp12Gly)
c.-452T>G (n.-452T>G)
 ClinVar dbSNP gnomAD v4
17g.42536563T=CA2260526819NAGLUc.291T= (p.Cys97=)
c.41T=
c.34T= (p.Trp12=)
c.-452T= (n.-452T=)
17g.42536564G>ACA399595989NAGLUc.292G>A (p.Gly98Ser)
c.42G>A
c.35G>A (p.Trp12Ter)
c.-451G>A (n.-451G>A)
 gnomAD v4
17g.42536564G>CCA399595990NAGLUc.292G>C (p.Gly98Arg)
c.42G>C
c.35G>C (p.Trp12Ser)
c.-451G>C (n.-451G>C)
17g.42536564G>TCA399595991NAGLUc.292G>T (p.Gly98Cys)
c.42G>T
c.35G>T (p.Trp12Leu)
c.-451G>T (n.-451G>T)
 gnomAD v4
17g.42536565delCA2637966330NAGLUc.293del (p.Gly98AlafsTer24)
c.43del
c.36del (p.Trp12CysfsTer?)
c.-450del (n.-450del)
 gnomAD v4
17g.42536565G>ACA399595992NAGLUc.293G>A (p.Gly98Asp)
c.43G>A
c.36G>A (p.Trp12Ter)
c.-450G>A (n.-450G>A)
 gnomAD v4
17g.42536565G>CCA399595993NAGLUc.293G>C (p.Gly98Ala)
c.43G>C
c.36G>C (p.Trp12Cys)
c.-450G>C (n.-450G>C)
17g.42536565G>TCA399595994NAGLUc.293G>T (p.Gly98Val)
c.43G>T
c.36G>T (p.Trp12Cys)
c.-450G>T (n.-450G>T)
 gnomAD v4
17g.42536566C>ACA399595995NAGLUc.294C>A (p.Gly98=)
c.44C>A
c.37C>A (p.Leu13Met)
c.-449C>A (n.-449C>A)
 gnomAD v4
17g.42536566C=CA2260526820NAGLUc.294C= (p.Gly98=)
c.44C=
c.37C= (p.Leu13=)
c.-449C= (n.-449C=)
17g.42536566C>GCA399595996NAGLUc.294C>G (p.Gly98=)
c.44C>G
c.37C>G (p.Leu13Val)
c.-449C>G (n.-449C>G)
 dbSNP gnomAD v4
17g.42536566C>TCA500215769NAGLUc.294C>T (p.Gly98=)
c.44C>T
c.37C>T (p.Leu13=)
c.-449C>T (n.-449C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42536567T>ACA399595997NAGLUc.295T>A (p.Cys99Ser)
c.45T>A
c.38T>A (p.Leu13Gln)
c.-448T>A (n.-448T>A)
17g.42536567T>CCA399595998NAGLUc.295T>C (p.Cys99Arg)
c.45T>C
c.38T>C (p.Leu13Pro)
c.-448T>C (n.-448T>C)
 gnomAD v4
17g.42536567T>GCA399595999NAGLUc.295T>G (p.Cys99Gly)
c.45T>G
c.38T>G (p.Leu13Arg)
c.-448T>G (n.-448T>G)
17g.42536567_42536576delCA2637966332NAGLUc.295_304del (p.Cys99ProfsTer20)
c.45_54del
c.38_47del (p.Leu13ProfsTer?)
c.-448_-439del (n.-448_-439del)
 gnomAD v4
17g.42536568G>ACA399596002NAGLUc.296G>A (p.Cys99Tyr)
c.46G>A
c.39G>A (p.Leu13=)
c.-447G>A (n.-447G>A)
 gnomAD v4
17g.42536568G>CCA399596001NAGLUc.296G>C (p.Cys99Ser)
c.46G>C
c.39G>C (p.Leu13=)
c.-447G>C (n.-447G>C)
 gnomAD v4
17g.42536568G>TCA399596000NAGLUc.296G>T (p.Cys99Phe)
c.46G>T
c.39G>T (p.Leu13=)
c.-447G>T (n.-447G>T)
 gnomAD v4
17g.42536569C>ACA399596003NAGLUc.297C>A (p.Cys99Ter)
c.47C>A
c.40C>A (p.Pro14Thr)
c.-446C>A (n.-446C>A)
 gnomAD v4
17g.42536569C=CA2260526821NAGLUc.297C= (p.Cys99=)
c.47C=
c.40C= (p.Pro14=)
c.-446C= (n.-446C=)
17g.42536569C>GCA399596004NAGLUc.297C>G (p.Cys99Trp)
c.47C>G
c.40C>G (p.Pro14Ala)
c.-446C>G (n.-446C>G)
 gnomAD v4
17g.42536569C>TCA399596005NAGLUc.297C>T (p.Cys99=)
c.47C>T
c.40C>T (p.Pro14Ser)
c.-446C>T (n.-446C>T)
 dbSNP gnomAD v4
17g.42536570C>ACA399596006NAGLUc.298C>A (p.His100Asn)
c.48C>A
c.41C>A (p.Pro14Gln)
c.-445C>A (n.-445C>A)
 gnomAD v4
17g.42536570C=CA2260526822NAGLUc.298C= (p.His100=)
c.48C=
c.41C= (p.Pro14=)
c.-445C= (n.-445C=)
17g.42536570C>GCA399596007NAGLUc.298C>G (p.His100Asp)
c.48C>G
c.41C>G (p.Pro14Arg)
c.-445C>G (n.-445C>G)
 gnomAD v4
17g.42536570C>TCA399596008NAGLUc.298C>T (p.His100Tyr)
c.48C>T
c.41C>T (p.Pro14Leu)
c.-445C>T (n.-445C>T)
 dbSNP gnomAD v4
17g.42536571A>CCA399596009NAGLUc.299A>C (p.His100Pro)
c.49A>C
c.42A>C (p.Pro14=)
c.-444A>C (n.-444A>C)
17g.42536571A>GCA399596010NAGLUc.299A>G (p.His100Arg)
c.49A>G
c.42A>G (p.Pro14=)
c.-444A>G (n.-444A>G)
17g.42536571A>TCA399596011NAGLUc.299A>T (p.His100Leu)
c.49A>T
c.42A>T (p.Pro14=)
c.-444A>T (n.-444A>T)
17g.42536572C>ACA399596012NAGLUc.300C>A (p.His100Gln)
c.50C>A
c.43C>A (p.Arg15Ser)
c.-443C>A (n.-443C>A)
 gnomAD v4
17g.42536572C=CA2260526823NAGLUc.300C= (p.His100=)
c.50C=
c.43C= (p.Arg15=)
c.-443C= (n.-443C=)
17g.42536572C>GCA399596013NAGLUc.300C>G (p.His100Gln)
c.50C>G
c.43C>G (p.Arg15Gly)
c.-443C>G (n.-443C>G)
17g.42536572C>TCA399596014NAGLUc.300C>T (p.His100=)
c.50C>T
c.43C>T (p.Arg15Cys)
c.-443C>T (n.-443C>T)
 dbSNP gnomAD v3 gnomAD v4
17g.42536573G>ACA399596016NAGLUc.301G>A (p.Val101Met)
c.51G>A
c.44G>A (p.Arg15His)
c.-442G>A (n.-442G>A)
 gnomAD v4
17g.42536573G>CCA399596017NAGLUc.301G>C (p.Val101Leu)
c.51G>C
c.44G>C (p.Arg15Pro)
c.-442G>C (n.-442G>C)
 dbSNP gnomAD v2 gnomAD v4
17g.42536573G=CA2260526824NAGLUc.301G= (p.Val101=)
c.51G=
c.44G= (p.Arg15=)
c.-442G= (n.-442G=)
17g.42536573G>TCA399596015NAGLUc.301G>T (p.Val101Leu)
c.51G>T
c.44G>T (p.Arg15Leu)
c.-442G>T (n.-442G>T)
 gnomAD v4
17g.42536574T>ACA399596018NAGLUc.302T>A (p.Val101Glu)
c.52T>A
c.45T>A (p.Arg15=)
c.-441T>A (n.-441T>A)
17g.42536574T>CCA399596019NAGLUc.302T>C (p.Val101Ala)
c.52T>C
c.45T>C (p.Arg15=)
c.-441T>C (n.-441T>C)
 gnomAD v4
17g.42536574T>GCA399596020NAGLUc.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
17g.42536574T=CA2260526825NAGLUc.302T= (p.Val101=)
c.52T=
c.45T= (p.Arg15=)
c.-441T= (n.-441T=)
17g.42536575G>ACA399596021NAGLUc.303G>A (p.Val101=)
c.53G>A
c.46G>A (p.Gly16Ser)
c.-440G>A (n.-440G>A)
 gnomAD v4
17g.42536575G>CCA399596022NAGLUc.303G>C (p.Val101=)
c.53G>C
c.46G>C (p.Gly16Arg)
c.-440G>C (n.-440G>C)
17g.42536575G>TCA399596023NAGLUc.303G>T (p.Val101=)
c.53G>T
c.46G>T (p.Gly16Cys)
c.-440G>T (n.-440G>T)
 gnomAD v4
17g.42536576G>ACA399596026NAGLUc.304G>A (p.Ala102Thr)
c.54G>A
c.47G>A (p.Gly16Asp)
c.-439G>A (n.-439G>A)
 ClinVar gnomAD v4
17g.42536576G>CCA399596024NAGLUc.304G>C (p.Ala102Pro)
c.54G>C
c.47G>C (p.Gly16Ala)
c.-439G>C (n.-439G>C)
17g.42536576G>TCA399596025NAGLUc.304G>T (p.Ala102Ser)
c.54G>T
c.47G>T (p.Gly16Val)
c.-439G>T (n.-439G>T)
 gnomAD v4
17g.42536577C>ACA399596027NAGLUc.305C>A (p.Ala102Asp)
c.55C>A
c.48C>A (p.Gly16=)
c.-438C>A (n.-438C>A)
 gnomAD v4
17g.42536577C=CA2260526826NAGLUc.305C= (p.Ala102=)
c.55C=
c.48C= (p.Gly16=)
c.-438C= (n.-438C=)
17g.42536577C>GCA399596028NAGLUc.305C>G (p.Ala102Gly)
c.55C>G
c.48C>G (p.Gly16=)
c.-438C>G (n.-438C>G)
 dbSNP
17g.42536577C>TCA399596029NAGLUc.305C>T (p.Ala102Val)
c.55C>T
c.48C>T (p.Gly16=)
c.-438C>T (n.-438C>T)
 gnomAD v4
17g.42536578C>ACA399596030NAGLUc.306C>A (p.Ala102=)
c.56C>A
c.49C>A (p.Leu17Met)
c.-437C>A (n.-437C>A)
 gnomAD v4
17g.42536578C=CA2260526827NAGLUc.306C= (p.Ala102=)
c.56C=
c.49C= (p.Leu17=)
c.-437C= (n.-437C=)
17g.42536578C>GCA399596031NAGLUc.306C>G (p.Ala102=)
c.56C>G
c.49C>G (p.Leu17Val)
c.-437C>G (n.-437C>G)
 ClinVar
17g.42536578C>TCA500215795NAGLUc.306C>T (p.Ala102=)
c.56C>T
c.49C>T (p.Leu17=)
c.-437C>T (n.-437C>T)
 ClinVar dbSNP gnomAD v4
17g.42536579T>ACA399596032NAGLUc.307T>A (p.Trp103Arg)
c.57T>A
c.50T>A (p.Leu17Gln)
c.-436T>A (n.-436T>A)
 gnomAD v4
17g.42536579T>CCA399596034NAGLUc.307T>C (p.Trp103Arg)
c.57T>C
c.50T>C (p.Leu17Pro)
c.-436T>C (n.-436T>C)
 gnomAD v4
17g.42536579T>GCA399596033NAGLUc.307T>G (p.Trp103Gly)
c.57T>G
c.50T>G (p.Leu17Arg)
c.-436T>G (n.-436T>G)
17g.42536580G>ACA399596035NAGLUc.308G>A (p.Trp103Ter)
c.58G>A
c.51G>A (p.Leu17=)
c.-435G>A (n.-435G>A)
 ClinVar dbSNP gnomAD v4
17g.42536580G>CCA399596036NAGLUc.308G>C (p.Trp103Ser)
c.58G>C
c.51G>C (p.Leu17=)
c.-435G>C (n.-435G>C)
 dbSNP gnomAD v4
17g.42536580G=CA2260526828NAGLUc.308G= (p.Trp103=)
c.58G=
c.51G= (p.Leu17=)
c.-435G= (n.-435G=)
17g.42536580G>TCA399596037NAGLUc.308G>T (p.Trp103Leu)
c.58G>T
c.51G>T (p.Leu17=)
c.-435G>T (n.-435G>T)
 gnomAD v4
17g.42536581G>ACA399596038NAGLUc.309G>A (p.Trp103Ter)
c.59G>A
c.52G>A (p.Val18Ile)
c.-434G>A (n.-434G>A)
 ClinVar dbSNP gnomAD v4
17g.42536581G>CCA399596039NAGLUc.309G>C (p.Trp103Cys)
c.59G>C
c.52G>C (p.Val18Leu)
c.-434G>C (n.-434G>C)
17g.42536581G=CA2260526829NAGLUc.309G= (p.Trp103=)
c.59G=
c.52G= (p.Val18=)
c.-434G= (n.-434G=)
17g.42536581G>TCA399596040NAGLUc.309G>T (p.Trp103Cys)
c.59G>T
c.52G>T (p.Val18Phe)
c.-434G>T (n.-434G>T)
17g.42536582T>ACA399596041NAGLUc.310T>A (p.Ser104Thr)
c.60T>A
c.53T>A (p.Val18Asp)
c.-433T>A (n.-433T>A)
17g.42536582T>CCA399596042NAGLUc.310T>C (p.Ser104Pro)
c.60T>C
c.53T>C (p.Val18Ala)
c.-433T>C (n.-433T>C)
 gnomAD v4
17g.42536582T>GCA399596043NAGLUc.310T>G (p.Ser104Ala)
c.60T>G
c.53T>G (p.Val18Gly)
c.-433T>G (n.-433T>G)
17g.42536583C>ACA399596044NAGLUc.311C>A (p.Ser104Tyr)
c.61C>A
c.54C>A (p.Val18=)
c.-432C>A (n.-432C>A)
 ClinVar dbSNP gnomAD v4
17g.42536583C>GCA399596045NAGLUc.311C>G (p.Ser104Cys)
c.61C>G
c.54C>G (p.Val18=)
c.-432C>G (n.-432C>G)
17g.42536583C>TCA399596046NAGLUc.311C>T (p.Ser104Phe)
c.61C>T
c.54C>T (p.Val18=)
c.-432C>T (n.-432C>T)
17g.42536584C>ACA500215815NAGLUc.312C>A (p.Ser104=)
c.62C>A
c.55C>A (p.Arg19=)
c.-431C>A (n.-431C>A)
 gnomAD v4
17g.42536584C>GCA399596048NAGLUc.312C>G (p.Ser104=)
c.62C>G
c.55C>G (p.Arg19Gly)
c.-431C>G (n.-431C>G)
 gnomAD v4
17g.42536584C>TCA399596047NAGLUc.312C>T (p.Ser104=)
c.62C>T
c.55C>T (p.Arg19Trp)
c.-431C>T (n.-431C>T)
 ClinVar gnomAD v4
17g.42536585G>ACA399596049NAGLUc.313G>A (p.Gly105Ser)
c.63G>A
c.56G>A (p.Arg19Gln)
c.-430G>A (n.-430G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42536585G>CCA399596051NAGLUc.313G>C (p.Gly105Arg)
c.63G>C
c.56G>C (p.Arg19Pro)
c.-430G>C (n.-430G>C)
 dbSNP gnomAD v3 gnomAD v4
17g.42536585G=CA2260526830NAGLUc.313G= (p.Gly105=)
c.63G=
c.56G= (p.Arg19=)
c.-430G= (n.-430G=)
17g.42536585G>TCA399596050NAGLUc.313G>T (p.Gly105Cys)
c.63G>T
c.56G>T (p.Arg19Leu)
c.-430G>T (n.-430G>T)
 gnomAD v4
17g.42536586G>ACA399596052NAGLUc.314G>A (p.Gly105Asp)
c.64G>A
c.57G>A (p.Arg19=)
c.-429G>A (n.-429G>A)
 gnomAD v4
17g.42536586G>CCA399596053NAGLUc.314G>C (p.Gly105Ala)
c.64G>C
c.57G>C (p.Arg19=)
c.-429G>C (n.-429G>C)
 ClinVar
17g.42536586G>TCA399596054NAGLUc.314G>T (p.Gly105Val)
c.64G>T
c.57G>T (p.Arg19=)
c.-429G>T (n.-429G>T)
 gnomAD v4
17g.42536589_42536595delCA2573154146NAGLUc.317_323del (p.Ser106CysfsTer14)
c.67_73del
c.60_66del (p.Ser21ArgfsTer27)
c.-426_-420del (n.-426_-420del)
 ClinVar dbSNP
17g.42536587C>ACA399596055NAGLUc.315C>A (p.Gly105=)
c.65C>A
c.58C>A (p.Leu20Ile)
c.-428C>A (n.-428C>A)
 gnomAD v4
17g.42536587C>GCA399596056NAGLUc.315C>G (p.Gly105=)
c.65C>G
c.58C>G (p.Leu20Val)
c.-428C>G (n.-428C>G)
 ClinVar dbSNP gnomAD v4
17g.42536587C>TCA399596057NAGLUc.315C>T (p.Gly105=)
c.65C>T
c.58C>T (p.Leu20Phe)
c.-428C>T (n.-428C>T)
17g.42536588T>ACA399596058NAGLUc.316T>A (p.Ser106Thr)
c.66T>A
c.59T>A (p.Leu20His)
c.-427T>A (n.-427T>A)
17g.42536588T>CCA399596060NAGLUc.316T>C (p.Ser106Pro)
c.66T>C
c.59T>C (p.Leu20Pro)
c.-427T>C (n.-427T>C)
 gnomAD v4
17g.42536588T>GCA399596062NAGLUc.316T>G (p.Ser106Ala)
c.66T>G
c.59T>G (p.Leu20Arg)
c.-427T>G (n.-427T>G)
17g.42536589C>ACA399596064NAGLUc.317C>A (p.Ser106Tyr)
c.67C>A
c.60C>A (p.Leu20=)
c.-426C>A (n.-426C>A)
 gnomAD v4
17g.42536589C=CA2260526831NAGLUc.317C= (p.Ser106=)
c.67C=
c.60C= (p.Leu20=)
c.-426C= (n.-426C=)
17g.42536589C>GCA399596065NAGLUc.317C>G (p.Ser106Cys)
c.67C>G
c.60C>G (p.Leu20=)
c.-426C>G (n.-426C>G)
17g.42536589C>TCA399596067NAGLUc.317C>T (p.Ser106Phe)
c.67C>T
c.60C>T (p.Leu20=)
c.-426C>T (n.-426C>T)
 ClinVar dbSNP gnomAD v4
17g.42536590T>ACA399596073NAGLUc.318T>A (p.Ser106=)
c.68T>A
c.61T>A (p.Ser21Thr)
c.-425T>A (n.-425T>A)
 gnomAD v4
17g.42536590T>CCA399596072NAGLUc.318T>C (p.Ser106=)
c.68T>C
c.61T>C (p.Ser21Pro)
c.-425T>C (n.-425T>C)
 gnomAD v4
17g.42536590T>GCA399596070NAGLUc.318T>G (p.Ser106=)
c.68T>G
c.61T>G (p.Ser21Ala)
c.-425T>G (n.-425T>G)
 ClinVar
17g.42536591C>ACA399596075NAGLUc.319C>A (p.Gln107Lys)
c.69C>A
c.62C>A (p.Ser21Ter)
c.-424C>A (n.-424C>A)
 gnomAD v4
17g.42536591C=CA2260526832NAGLUc.319C= (p.Gln107=)
c.69C=
c.62C= (p.Ser21=)
c.-424C= (n.-424C=)
17g.42536591C>GCA399596076NAGLUc.319C>G (p.Gln107Glu)
c.69C>G
c.62C>G (p.Ser21Ter)
c.-424C>G (n.-424C>G)
 gnomAD v4
17g.42536591C>TCA399596077NAGLUc.319C>T (p.Gln107Ter)
c.69C>T
c.62C>T (p.Ser21Leu)
c.-424C>T (n.-424C>T)
 gnomAD v4
17g.42536592A>CCA399596079NAGLUc.320A>C (p.Gln107Pro)
c.70A>C
c.63A>C (p.Ser21=)
c.-423A>C (n.-423A>C)
17g.42536592A>GCA399596081NAGLUc.320A>G (p.Gln107Arg)
c.70A>G
c.63A>G (p.Ser21=)
c.-423A>G (n.-423A>G)
 gnomAD v4
17g.42536592A>TCA399596083NAGLUc.320A>T (p.Gln107Leu)
c.70A>T
c.63A>T (p.Ser21=)
c.-423A>T (n.-423A>T)
17g.42536592dupCA2260526833NAGLUc.320dup (p.Leu108AlafsTer?)
c.70dup
c.63dup (p.Ala22SerfsTer15)
c.-423dup (n.-423dup)
c.320dup (p.Leu108AlafsTer28)
 dbSNP
17g.42536593G>ACA8576701NAGLUc.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
17g.42536593G>CCA399596086NAGLUc.321G>C (p.Gln107His)
c.71G>C
c.64G>C (p.Ala22Pro)
c.-422G>C (n.-422G>C)
 gnomAD v4
17g.42536593G=CA2260526834NAGLUc.321G= (p.Gln107=)
c.71G=
c.64G= (p.Ala22=)
c.-422G= (n.-422G=)
17g.42536593G>TCA399596088NAGLUc.321G>T (p.Gln107His)
c.71G>T
c.64G>T (p.Ala22Ser)
c.-422G>T (n.-422G>T)
 gnomAD v4
17g.42536594C>ACA399596090NAGLUc.322C>A (p.Leu108Met)
c.72C>A
c.65C>A (p.Ala22Asp)
c.-421C>A (n.-421C>A)
 gnomAD v4
17g.42536594C=CA2260526835NAGLUc.322C= (p.Leu108=)
c.72C=
c.65C= (p.Ala22=)
c.-421C= (n.-421C=)
17g.42536594C>GCA399596092NAGLUc.322C>G (p.Leu108Val)
c.72C>G
c.65C>G (p.Ala22Gly)
c.-421C>G (n.-421C>G)
17g.42536594C>TCA399596094NAGLUc.322C>T (p.Leu108=)
c.72C>T
c.65C>T (p.Ala22Val)
c.-421C>T (n.-421C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42536595T>ACA399596099NAGLUc.323T>A (p.Leu108Gln)
c.73T>A
c.66T>A (p.Ala22=)
c.-420T>A (n.-420T>A)
 gnomAD v4
17g.42536595T>CCA399596097NAGLUc.323T>C (p.Leu108Pro)
c.73T>C
c.66T>C (p.Ala22=)
c.-420T>C (n.-420T>C)
 dbSNP gnomAD v4
17g.42536595T>GCA399596096NAGLUc.323T>G (p.Leu108Arg)
c.73T>G
c.66T>G (p.Ala22=)
c.-420T>G (n.-420T>G)
17g.42536595T=CA2260526836NAGLUc.323T= (p.Leu108=)
c.73T=
c.66T= (p.Ala22=)
c.-420T= (n.-420T=)
17g.42536596G>ACA399596101NAGLUc.324G>A (p.Leu108=)
c.74G>A
c.67G>A (p.Ala23Thr)
c.-419G>A (n.-419G>A)
 gnomAD v4
17g.42536596G>CCA399596102NAGLUc.324G>C (p.Leu108=)
c.74G>C
c.67G>C (p.Ala23Pro)
c.-419G>C (n.-419G>C)
17g.42536596G>TCA399596104NAGLUc.324G>T (p.Leu108=)
c.74G>T
c.67G>T (p.Ala23Ser)
c.-419G>T (n.-419G>T)
17g.42536597C>ACA399596107NAGLUc.325C>A (p.Arg109Ser)
c.75C>A
c.68C>A (p.Ala23Glu)
c.-418C>A (n.-418C>A)
 gnomAD v4
17g.42536597C>GCA399596108NAGLUc.325C>G (p.Arg109Gly)
c.75C>G
c.68C>G (p.Ala23Gly)
c.-418C>G (n.-418C>G)
17g.42536597C>TCA399596109NAGLUc.325C>T (p.Arg109Cys)
c.75C>T
c.68C>T (p.Ala23Val)
c.-418C>T (n.-418C>T)
 gnomAD v4
17g.42536598delCA2695226052NAGLUc.326del (p.Arg109ProfsTer13)
c.76del
c.69del (p.Pro24LeufsTer26)
c.-417del (n.-417del)
17g.42536598G>ACA399596114NAGLUc.326G>A (p.Arg109His)
c.76G>A
c.69G>A (p.Ala23=)
c.-417G>A (n.-417G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42536598G>CCA399596113NAGLUc.326G>C (p.Arg109Pro)
c.76G>C
c.69G>C (p.Ala23=)
c.-417G>C (n.-417G>C)
17g.42536598G=CA2260526837NAGLUc.326G= (p.Arg109=)
c.76G=
c.69G= (p.Ala23=)
c.-417G= (n.-417G=)
17g.42536598G>TCA399596112NAGLUc.326G>T (p.Arg109Leu)
c.76G>T
c.69G>T (p.Ala23=)
c.-417G>T (n.-417G>T)
 ClinVar gnomAD v4
17g.42536599C>ACA399596116NAGLUc.327C>A (p.Arg109=)
c.77C>A
c.70C>A (p.Pro24Thr)
c.-416C>A (n.-416C>A)
 ClinVar gnomAD v4
17g.42536599C>GCA399596118NAGLUc.327C>G (p.Arg109=)
c.77C>G
c.70C>G (p.Pro24Ala)
c.-416C>G (n.-416C>G)
17g.42536599C>TCA399596119NAGLUc.327C>T (p.Arg109=)
c.77C>T
c.70C>T (p.Pro24Ser)
c.-416C>T (n.-416C>T)
 ClinVar dbSNP gnomAD v4
17g.42536600C>ACA399596121NAGLUc.328C>A (p.Leu110Met)
c.78C>A
c.71C>A (p.Pro24His)
c.-415C>A (n.-415C>A)
 gnomAD v4
17g.42536600C=CA2260526839NAGLUc.328C= (p.Leu110=)
c.78C=
c.71C= (p.Pro24=)
c.-415C= (n.-415C=)
17g.42536600C>GCA399596123NAGLUc.328C>G (p.Leu110Val)
c.78C>G
c.71C>G (p.Pro24Arg)
c.-415C>G (n.-415C>G)
17g.42536600C>TCA399596125NAGLUc.328C>T (p.Leu110=)
c.78C>T
c.71C>T (p.Pro24Leu)
c.-415C>T (n.-415C>T)
 dbSNP gnomAD v4
17g.42536600_42536601delinsCTCA2260526838NAGLUc.328_329delinsCT (p.Leu110=)
c.78_79delinsCT
c.71_72delinsCT (p.Pro24=)
c.-415_-414delinsCT (n.-415_-414delinsCT)
17g.42536605_42536616delCA2740095358NAGLUc.333_344del (p.Arg112_Pro115del)
c.83_94del
c.76_87del (p.Ala26_Ala29del)
c.-410_-399del (n.-410_-399del)
 ClinVar
17g.42536601delCA772109676NAGLUc.329del (p.Leu110ArgfsTer12)
c.79del
c.72del (p.Ala25ProfsTer25)
c.-414del (n.-414del)
 dbSNP gnomAD v3 gnomAD v4
17g.42536601T>ACA399596127NAGLUc.329T>A (p.Leu110Gln)
c.79T>A
c.72T>A (p.Pro24=)
c.-414T>A (n.-414T>A)
 gnomAD v4
17g.42536601T>CCA399596130NAGLUc.329T>C (p.Leu110Pro)
c.79T>C
c.72T>C (p.Pro24=)
c.-414T>C (n.-414T>C)
 gnomAD v4
17g.42536601T>GCA399596129NAGLUc.329T>G (p.Leu110Arg)
c.79T>G
c.72T>G (p.Pro24=)
c.-414T>G (n.-414T>G)
 gnomAD v4
17g.42536601dupCA2580093764NAGLUc.329dup (p.Pro111AlafsTer?)
c.79dup
c.72dup (p.Ala25CysfsTer12)
c.-414dup (n.-414dup)
c.329dup (p.Pro111AlafsTer25)
 ClinVar
17g.42536602G>ACA399596133NAGLUc.330G>A (p.Leu110=)
c.80G>A
c.73G>A (p.Ala25Thr)
c.-413G>A (n.-413G>A)
 gnomAD v4
17g.42536602G>CCA399596134NAGLUc.330G>C (p.Leu110=)
c.80G>C
c.73G>C (p.Ala25Pro)
c.-413G>C (n.-413G>C)
 gnomAD v4
17g.42536602G=CA2260526840NAGLUc.330G= (p.Leu110=)
c.80G=
c.73G= (p.Ala25=)
c.-413G= (n.-413G=)
17g.42536602G>TCA399596135NAGLUc.330G>T (p.Leu110=)
c.80G>T
c.73G>T (p.Ala25Ser)
c.-413G>T (n.-413G>T)
 dbSNP gnomAD v2 gnomAD v4
17g.42536603C>ACA399596137NAGLUc.331C>A (p.Pro111Thr)
c.81C>A
c.74C>A (p.Ala25Asp)
c.-412C>A (n.-412C>A)
 gnomAD v4
17g.42536603C>GCA399596139NAGLUc.331C>G (p.Pro111Ala)
c.81C>G
c.74C>G (p.Ala25Gly)
c.-412C>G (n.-412C>G)
17g.42536603C>TCA399596141NAGLUc.331C>T (p.Pro111Ser)
c.81C>T
c.74C>T (p.Ala25Val)
c.-412C>T (n.-412C>T)
 dbSNP gnomAD v3 gnomAD v4
17g.42536604C>ACA399596143NAGLUc.332C>A (p.Pro111Gln)
c.82C>A
c.75C>A (p.Ala25=)
c.-411C>A (n.-411C>A)
 gnomAD v4
17g.42536604C=CA2260526841NAGLUc.332C= (p.Pro111=)
c.82C=
c.75C= (p.Ala25=)
c.-411C= (n.-411C=)
17g.42536604C>GCA399596145NAGLUc.332C>G (p.Pro111Arg)
c.82C>G
c.75C>G (p.Ala25=)
c.-411C>G (n.-411C>G)
 dbSNP gnomAD v4
17g.42536604C>TCA399596147NAGLUc.332C>T (p.Pro111Leu)
c.82C>T
c.75C>T (p.Ala25=)
c.-411C>T (n.-411C>T)
 ClinVar dbSNP gnomAD v4
17g.42536605G>ACA399596148NAGLUc.333G>A (p.Pro111=)
c.83G>A
c.76G>A (p.Ala26Thr)
c.-410G>A (n.-410G>A)
 gnomAD v4
17g.42536605G>CCA399596150NAGLUc.333G>C (p.Pro111=)
c.83G>C
c.76G>C (p.Ala26Pro)
c.-410G>C (n.-410G>C)
17g.42536605G>TCA399596151NAGLUc.333G>T (p.Pro111=)
c.83G>T
c.76G>T (p.Ala26Ser)
c.-410G>T (n.-410G>T)
 gnomAD v4
17g.42536606_42536630delCA2573130377NAGLUc.334_358del (p.Arg112SerfsTer2)
c.84_108del
c.77_101del (p.Ala26GlufsTer16)
c.-409_-385del (n.-409_-385del)
17g.42536606C>ACA399596153NAGLUc.334C>A (p.Arg112=)
c.84C>A
c.77C>A (p.Ala26Glu)
c.-409C>A (n.-409C>A)
 gnomAD v4
17g.42536606C>GCA399596155NAGLUc.334C>G (p.Arg112Gly)
c.84C>G
c.77C>G (p.Ala26Gly)
c.-409C>G (n.-409C>G)
17g.42536606C>TCA399596152NAGLUc.334C>T (p.Arg112Trp)
c.84C>T
c.77C>T (p.Ala26Val)
c.-409C>T (n.-409C>T)
 gnomAD v4
17g.42536607G>ACA399596158NAGLUc.335G>A (p.Arg112Gln)
c.85G>A
c.78G>A (p.Ala26=)
c.-408G>A (n.-408G>A)
 dbSNP gnomAD v3 gnomAD v4
17g.42536607G>CCA399596157NAGLUc.335G>C (p.Arg112Pro)
c.85G>C
c.78G>C (p.Ala26=)
c.-408G>C (n.-408G>C)
17g.42536607G=CA2260526842NAGLUc.335G= (p.Arg112=)
c.85G=
c.78G= (p.Ala26=)
c.-408G= (n.-408G=)
17g.42536607G>TCA290771388NAGLUc.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
17g.42536608G>ACA399596161NAGLUc.336G>A (p.Arg112=)
c.86G>A
c.79G>A (p.Ala27Thr)
c.-407G>A (n.-407G>A)
 gnomAD v4
17g.42536608G>CCA399596163NAGLUc.336G>C (p.Arg112=)
c.86G>C
c.79G>C (p.Ala27Pro)
c.-407G>C (n.-407G>C)
 gnomAD v4
17g.42536608G=CA2260526843NAGLUc.336G= (p.Arg112=)
c.86G=
c.79G= (p.Ala27=)
c.-407G= (n.-407G=)
17g.42536608G>TCA399596162NAGLUc.336G>T (p.Arg112=)
c.86G>T
c.79G>T (p.Ala27Ser)
c.-407G>T (n.-407G>T)
 dbSNP gnomAD v3 gnomAD v4
17g.42536609C>ACA399596165NAGLUc.337C>A (p.Pro113Thr)
c.87C>A
c.80C>A (p.Ala27Asp)
c.-406C>A (n.-406C>A)
 gnomAD v4
17g.42536609C=CA2260526844NAGLUc.337C= (p.Pro113=)
c.87C=
c.80C= (p.Ala27=)
c.-406C= (n.-406C=)
17g.42536609C>GCA399596168NAGLUc.337C>G (p.Pro113Ala)
c.87C>G
c.80C>G (p.Ala27Gly)
c.-406C>G (n.-406C>G)
17g.42536609C>TCA399596167NAGLUc.337C>T (p.Pro113Ser)
c.87C>T
c.80C>T (p.Ala27Val)
c.-406C>T (n.-406C>T)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.42536610C>ACA399596169NAGLUc.338C>A (p.Pro113Gln)
c.88C>A
c.81C>A (p.Ala27=)
c.-405C>A (n.-405C>A)
 gnomAD v4
17g.42536610C=CA2260526845NAGLUc.338C= (p.Pro113=)
c.88C=
c.81C= (p.Ala27=)
c.-405C= (n.-405C=)
17g.42536610C>GCA399596171NAGLUc.338C>G (p.Pro113Arg)
c.88C>G
c.81C>G (p.Ala27=)
c.-405C>G (n.-405C>G)
17g.42536610C>TCA290771394NAGLUc.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
17g.42536611A>CCA399596173NAGLUc.339A>C (p.Pro113=)
c.89A>C
c.82A>C (p.Thr28Pro)
c.-404A>C (n.-404A>C)
17g.42536611A>GCA399596175NAGLUc.339A>G (p.Pro113=)
c.89A>G
c.82A>G (p.Thr28Ala)
c.-404A>G (n.-404A>G)
 gnomAD v4
17g.42536611A>TCA399596177NAGLUc.339A>T (p.Pro113=)
c.89A>T
c.82A>T (p.Thr28Ser)
c.-404A>T (n.-404A>T)
 ClinVar dbSNP gnomAD v4
17g.42536612C>ACA399596178NAGLUc.340C>A (p.Leu114Met)
c.90C>A
c.83C>A (p.Thr28Asn)
c.-403C>A (n.-403C>A)
 gnomAD v4
17g.42536612C>GCA399596180NAGLUc.340C>G (p.Leu114Val)
c.90C>G
c.83C>G (p.Thr28Ser)
c.-403C>G (n.-403C>G)
 gnomAD v4
17g.42536612C>TCA399596182NAGLUc.340C>T (p.Leu114=)
c.90C>T
c.83C>T (p.Thr28Ile)
c.-403C>T (n.-403C>T)
 ClinVar dbSNP gnomAD v4
17g.42536613T>ACA399596185NAGLUc.341T>A (p.Leu114Gln)
c.91T>A
c.84T>A (p.Thr28=)
c.-402T>A (n.-402T>A)
17g.42536613T>CCA399596186NAGLUc.341T>C (p.Leu114Pro)
c.91T>C
c.84T>C (p.Thr28=)
c.-402T>C (n.-402T>C)
 gnomAD v4
17g.42536613T>GCA399596188NAGLUc.341T>G (p.Leu114Arg)
c.91T>G
c.84T>G (p.Thr28=)
c.-402T>G (n.-402T>G)
17g.42536614G>ACA8576702NAGLUc.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
17g.42536614G>CCA399596193NAGLUc.342G>C (p.Leu114=)
c.92G>C
c.85G>C (p.Ala29Pro)
c.-401G>C (n.-401G>C)
 gnomAD v4
17g.42536614G=CA2260526846NAGLUc.342G= (p.Leu114=)
c.92G=
c.85G= (p.Ala29=)
c.-401G= (n.-401G=)
17g.42536614G>TCA399596191NAGLUc.342G>T (p.Leu114=)
c.92G>T
c.85G>T (p.Ala29Ser)
c.-401G>T (n.-401G>T)
 gnomAD v4
17g.42536614_42536615delCA2695226053NAGLUc.342_343del (p.Pro115SerfsTer?)
c.92_93del
c.85_86del (p.Ala29GlnfsTer7)
c.-401_-400del (n.-401_-400del)
c.342_343del (p.Pro115SerfsTer20)
17g.42536615C>ACA399596195NAGLUc.343C>A (p.Pro115Thr)
c.93C>A
c.86C>A (p.Ala29Asp)
c.-400C>A (n.-400C>A)
 gnomAD v4
17g.42536615C=CA2260526847NAGLUc.343C= (p.Pro115=)
c.93C=
c.86C= (p.Ala29=)
c.-400C= (n.-400C=)
17g.42536615C>GCA399596197NAGLUc.343C>G (p.Pro115Ala)
c.93C>G
c.86C>G (p.Ala29Gly)
c.-400C>G (n.-400C>G)
 gnomAD v4
17g.42536615C>TCA8576703NAGLUc.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
17g.42536616delCA2637966337NAGLUc.344del (p.Pro115GlnfsTer7)
c.94del
c.87del (p.Ser30AlafsTer20)
c.-399del (n.-399del)
 gnomAD v4
17g.42536616C>ACA399596200NAGLUc.344C>A (p.Pro115Gln)
c.94C>A
c.87C>A (p.Ala29=)
c.-399C>A (n.-399C>A)
 gnomAD v4
17g.42536616C=CA2260526848NAGLUc.344C= (p.Pro115=)
c.94C=
c.87C= (p.Ala29=)
c.-399C= (n.-399C=)
17g.42536616C>GCA399596202NAGLUc.344C>G (p.Pro115Arg)
c.94C>G
c.87C>G (p.Ala29=)
c.-399C>G (n.-399C>G)
 gnomAD v4
17g.42536616C>TCA399596203NAGLUc.344C>T (p.Pro115Leu)
c.94C>T
c.87C>T (p.Ala29=)
c.-399C>T (n.-399C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42536617A=CA2260526849NAGLUc.345A= (p.Pro115=)
c.95A=
c.88A= (p.Ser30=)
c.-398A= (n.-398A=)
17g.42536617A>CCA399596205NAGLUc.345A>C (p.Pro115=)
c.95A>C
c.88A>C (p.Ser30Arg)
c.-398A>C (n.-398A>C)
 dbSNP
17g.42536617A>GCA399596207NAGLUc.345A>G (p.Pro115=)
c.95A>G
c.88A>G (p.Ser30Gly)
c.-398A>G (n.-398A>G)
 ClinVar dbSNP gnomAD v4
17g.42536617A>TCA399596209NAGLUc.345A>T (p.Pro115=)
c.95A>T
c.88A>T (p.Ser30Cys)
c.-398A>T (n.-398A>T)
 dbSNP
17g.42536618G>ACA399596212NAGLUc.346G>A (p.Ala116Thr)
c.96G>A
c.89G>A (p.Ser30Asn)
c.-397G>A (n.-397G>A)
 gnomAD v4
17g.42536618G>CCA399596214NAGLUc.346G>C (p.Ala116Pro)
c.96G>C
c.89G>C (p.Ser30Thr)
c.-397G>C (n.-397G>C)
 gnomAD v4
17g.42536618G>TCA399596211NAGLUc.346G>T (p.Ala116Ser)
c.96G>T
c.89G>T (p.Ser30Ile)
c.-397G>T (n.-397G>T)
 gnomAD v4
17g.42536619C>ACA399596219NAGLUc.347C>A (p.Ala116Asp)
c.97C>A
c.90C>A (p.Ser30Arg)
c.-396C>A (n.-396C>A)
 dbSNP gnomAD v4
17g.42536619C=CA2260526850NAGLUc.347C= (p.Ala116=)
c.97C=
c.90C= (p.Ser30=)
c.-396C= (n.-396C=)
17g.42536619C>GCA399596221NAGLUc.347C>G (p.Ala116Gly)
c.97C>G
c.90C>G (p.Ser30Arg)
c.-396C>G (n.-396C>G)
17g.42536619C>TCA399596223NAGLUc.347C>T (p.Ala116Val)
c.97C>T
c.90C>T (p.Ser30=)
c.-396C>T (n.-396C>T)
 dbSNP gnomAD v4
17g.42536620C>ACA399596225NAGLUc.348C>A (p.Ala116=)
c.98C>A
c.91C>A (p.Arg31Ser)
c.-395C>A (n.-395C>A)
 ClinVar dbSNP gnomAD v4
17g.42536620C=CA2260526851NAGLUc.348C= (p.Ala116=)
c.98C=
c.91C= (p.Arg31=)
c.-395C= (n.-395C=)
17g.42536620C>GCA290771414NAGLUc.348C>G (p.Ala116=)
c.98C>G
c.91C>G (p.Arg31Gly)
c.-395C>G (n.-395C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42536620C>TCA8576704NAGLUc.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
17g.42536621G>ACA399596229NAGLUc.349G>A (p.Val117Met)
c.99G>A
c.92G>A (p.Arg31His)
c.-394G>A (n.-394G>A)
 gnomAD v4
17g.42536621G>CCA399596231NAGLUc.349G>C (p.Val117Leu)
c.99G>C
c.92G>C (p.Arg31Pro)
c.-394G>C (n.-394G>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42536621G=CA2260526852NAGLUc.349G= (p.Val117=)
c.99G=
c.92G= (p.Arg31=)
c.-394G= (n.-394G=)
17g.42536621G>TCA290771419NAGLUc.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
17g.42536622T>ACA399596234NAGLUc.350T>A (p.Val117Glu)
c.100T>A
c.93T>A (p.Arg31=)
c.-393T>A (n.-393T>A)
 dbSNP gnomAD v4
17g.42536622T>CCA8576705NAGLUc.350T>C (p.Val117Ala)
c.100T>C
c.93T>C (p.Arg31=)
c.-393T>C (n.-393T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42536622T>GCA399596236NAGLUc.350T>G (p.Val117Gly)
c.100T>G
c.93T>G (p.Arg31=)
c.-393T>G (n.-393T>G)
17g.42536622T=CA2260526853NAGLUc.350T= (p.Val117=)
c.100T=
c.93T= (p.Arg31=)
c.-393T= (n.-393T=)
17g.42536623delCA2695226054NAGLUc.351del (p.Pro118ArgfsTer4)
c.101del
c.94del (p.Ala32ProfsTer18)
c.-392del (n.-392del)
17g.42536623G>ACA399596242NAGLUc.351G>A (p.Val117=)
c.101G>A
c.94G>A (p.Ala32Thr)
c.-392G>A (n.-392G>A)
 ClinVar gnomAD v4
17g.42536623G>CCA399596239NAGLUc.351G>C (p.Val117=)
c.101G>C
c.94G>C (p.Ala32Pro)
c.-392G>C (n.-392G>C)
17g.42536623G=CA2260526854NAGLUc.351G= (p.Val117=)
c.101G=
c.94G= (p.Ala32=)
c.-392G= (n.-392G=)
17g.42536623G>TCA399596241NAGLUc.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
17g.42536624C>ACA399596245NAGLUc.352C>A (p.Pro118Thr)
c.102C>A
c.95C>A (p.Ala32Asp)
c.-391C>A (n.-391C>A)
 gnomAD v4
17g.42536624C=CA2260526855NAGLUc.352C= (p.Pro118=)
c.102C=
c.95C= (p.Ala32=)
c.-391C= (n.-391C=)
17g.42536624C>GCA399596247NAGLUc.352C>G (p.Pro118Ala)
c.102C>G
c.95C>G (p.Ala32Gly)
c.-391C>G (n.-391C>G)
17g.42536624C>TCA8576706NAGLUc.352C>T (p.Pro118Ser)
c.102C>T
c.95C>T (p.Ala32Val)
c.-391C>T (n.-391C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.42536625C>ACA399596250NAGLUc.353C>A (p.Pro118Gln)
c.103C>A
c.96C>A (p.Ala32=)
c.-390C>A (n.-390C>A)
 gnomAD v4
17g.42536625C=CA2260526856NAGLUc.353C= (p.Pro118=)
c.103C=
c.96C= (p.Ala32=)
c.-390C= (n.-390C=)
17g.42536625C>GCA399596252NAGLUc.353C>G (p.Pro118Arg)
c.103C>G
c.96C>G (p.Ala32=)
c.-390C>G (n.-390C>G)
 gnomAD v2 gnomAD v4
17g.42536625C>TCA8576707NAGLUc.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
17g.42536626G>ACA8576708NAGLUc.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
17g.42536626G>CCA399596255NAGLUc.354G>C (p.Pro118=)
c.104G>C
c.97G>C (p.Gly33Arg)
c.-389G>C (n.-389G>C)
 ClinVar dbSNP gnomAD v4
17g.42536626G=CA2260526857NAGLUc.354G= (p.Pro118=)
c.104G=
c.97G= (p.Gly33=)
c.-389G= (n.-389G=)
17g.42536626G>TCA399596257NAGLUc.354G>T (p.Pro118=)
c.104G>T
c.97G>T (p.Gly33Trp)
c.-389G>T (n.-389G>T)
 ClinVar gnomAD v4
17g.42536630dupCA2637966345NAGLUc.358dup (p.Glu120GlyfsTer?)
c.108dup
c.101dup (p.Ala35SerfsTer2)
c.-385dup (n.-385dup)
c.358dup (p.Glu120GlyfsTer16)
 gnomAD v4
17g.42536630delCA626218517NAGLUc.358del (p.Glu120SerfsTer2)
c.108del
c.101del (p.Gly34GlufsTer16)
c.-385del (n.-385del)
 gnomAD v2 gnomAD v4
17g.42536627G>ACA399596259NAGLUc.355G>A (p.Gly119Arg)
c.105G>A
c.98G>A (p.Gly33Glu)
c.-388G>A (n.-388G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42536627G>CCA399596261NAGLUc.355G>C (p.Gly119Arg)
c.105G>C
c.98G>C (p.Gly33Ala)
c.-388G>C (n.-388G>C)
 dbSNP gnomAD v2 gnomAD v4
17g.42536627G=CA2260526858NAGLUc.355G= (p.Gly119=)
c.105G=
c.98G= (p.Gly33=)
c.-388G= (n.-388G=)
17g.42536627G>TCA399596263NAGLUc.355G>T (p.Gly119Trp)
c.105G>T
c.98G>T (p.Gly33Val)
c.-388G>T (n.-388G>T)
 gnomAD v4
17g.42536628G>ACA399596268NAGLUc.356G>A (p.Gly119Glu)
c.106G>A
c.99G>A (p.Gly33=)
c.-387G>A (n.-387G>A)
 gnomAD v4
17g.42536628G>CCA399596266NAGLUc.356G>C (p.Gly119Ala)
c.106G>C
c.99G>C (p.Gly33=)
c.-387G>C (n.-387G>C)
 gnomAD v4
17g.42536628G>TCA399596265NAGLUc.356G>T (p.Gly119Val)
c.106G>T
c.99G>T (p.Gly33=)
c.-387G>T (n.-387G>T)
 gnomAD v4
17g.42536629G>ACA399596270NAGLUc.357G>A (p.Gly119=)
c.107G>A
c.100G>A (p.Gly34Arg)
c.-386G>A (n.-386G>A)
 gnomAD v4
17g.42536629G>CCA399596271NAGLUc.357G>C (p.Gly119=)
c.107G>C
c.100G>C (p.Gly34Arg)
c.-386G>C (n.-386G>C)
17g.42536629G>TCA399596273NAGLUc.357G>T (p.Gly119=)
c.107G>T
c.100G>T (p.Gly34Ter)
c.-386G>T (n.-386G>T)
 gnomAD v4
17g.42536630G>ACA399596276NAGLUc.358G>A (p.Glu120Lys)
c.108G>A
c.101G>A (p.Gly34Glu)
c.-385G>A (n.-385G>A)
 dbSNP gnomAD v4
17g.42536630G>CCA399596277NAGLUc.358G>C (p.Glu120Gln)
c.108G>C
c.101G>C (p.Gly34Ala)
c.-385G>C (n.-385G>C)
17g.42536630G=CA2260526859NAGLUc.358G= (p.Glu120=)
c.108G=
c.101G= (p.Gly34=)
c.-385G= (n.-385G=)
17g.42536630G>TCA399596279NAGLUc.358G>T (p.Glu120Ter)
c.108G>T
c.101G>T (p.Gly34Val)
c.-385G>T (n.-385G>T)
 ClinVar dbSNP gnomAD v4
17g.42536631A=CA2260526860NAGLUc.359A= (p.Glu120=)
c.109A=
c.102A= (p.Gly34=)
c.-384A= (n.-384A=)
17g.42536631A>CCA399596284NAGLUc.359A>C (p.Glu120Ala)
c.109A>C
c.102A>C (p.Gly34=)
c.-384A>C (n.-384A>C)
17g.42536631A>GCA399596283NAGLUc.359A>G (p.Glu120Gly)
c.109A>G
c.102A>G (p.Gly34=)
c.-384A>G (n.-384A>G)
 ClinVar dbSNP gnomAD v4
17g.42536631A>TCA399596281NAGLUc.359A>T (p.Glu120Val)
c.109A>T
c.102A>T (p.Gly34=)
c.-384A>T (n.-384A>T)
 gnomAD v4
17g.42536632G>ACA399596287NAGLUc.360G>A (p.Glu120=)
c.110G>A
c.103G>A (p.Ala35Thr)
c.-383G>A (n.-383G>A)
 gnomAD v4
17g.42536632G>CCA399596288NAGLUc.360G>C (p.Glu120Asp)
c.110G>C
c.103G>C (p.Ala35Pro)
c.-383G>C (n.-383G>C)
17g.42536632G>TCA399596290NAGLUc.360G>T (p.Glu120Asp)
c.110G>T
c.103G>T (p.Ala35Ser)
c.-383G>T (n.-383G>T)
 gnomAD v4
17g.42536633C>ACA399596292NAGLUc.361C>A (p.Leu121Met)
c.111C>A
c.104C>A (p.Ala35Asp)
c.-382C>A (n.-382C>A)
 gnomAD v4
17g.42536633C>GCA399596293NAGLUc.361C>G (p.Leu121Val)
c.111C>G
c.104C>G (p.Ala35Gly)
c.-382C>G (n.-382C>G)
 gnomAD v4
17g.42536633C>TCA399596294NAGLUc.361C>T (p.Leu121=)
c.111C>T
c.104C>T (p.Ala35Val)
c.-382C>T (n.-382C>T)
 gnomAD v4
17g.42536634T>ACA399596295NAGLUc.362T>A (p.Leu121Gln)
c.112T>A
c.105T>A (p.Ala35=)
c.-381T>A (n.-381T>A)
17g.42536634T>CCA399596298NAGLUc.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
17g.42536634T>GCA399596296NAGLUc.362T>G (p.Leu121Arg)
c.112T>G
c.105T>G (p.Ala35=)
c.-381T>G (n.-381T>G)
17g.42536634T=CA2260526861NAGLUc.362T= (p.Leu121=)
c.112T=
c.105T= (p.Ala35=)
c.-381T= (n.-381T=)
17g.42536635G>ACA399596300NAGLUc.363G>A (p.Leu121=)
c.113G>A
c.106G>A (p.Asp36Asn)
c.-380G>A (n.-380G>A)
 gnomAD v4
17g.42536635G>CCA399596301NAGLUc.363G>C (p.Leu121=)
c.113G>C
c.106G>C (p.Asp36His)
c.-380G>C (n.-380G>C)
17g.42536635G>TCA399596303NAGLUc.363G>T (p.Leu121=)
c.113G>T
c.106G>T (p.Asp36Tyr)
c.-380G>T (n.-380G>T)
 gnomAD v4
17g.42536636A>CCA399596304NAGLUc.364A>C (p.Thr122Pro)
c.114A>C
c.107A>C (p.Asp36Ala)
c.-379A>C (n.-379A>C)
17g.42536636A>GCA399596307NAGLUc.364A>G (p.Thr122Ala)
c.114A>G
c.107A>G (p.Asp36Gly)
c.-379A>G (n.-379A>G)
 gnomAD v4
17g.42536636A>TCA399596309NAGLUc.364A>T (p.Thr122Ser)
c.114A>T
c.107A>T (p.Asp36Val)
c.-379A>T (n.-379A>T)
17g.42536636_42536637insGGAAGACTCA2741536694NAGLUc.364_365insGGAAGACT (p.Thr122ArgfsTer?)
c.114_115insGGAAGACT
c.107_108insGGAAGACT (p.Asp36GlufsTer17)
c.-379_-378insGGAAGACT (n.-379_-378insGGAAGACT)
17g.42536637C>ACA399596312NAGLUc.365C>A (p.Thr122Asn)
c.115C>A
c.108C>A (p.Asp36Glu)
c.-378C>A (n.-378C>A)
 gnomAD v4
17g.42536637C>GCA399596313NAGLUc.365C>G (p.Thr122Ser)
c.115C>G
c.108C>G (p.Asp36Glu)
c.-378C>G (n.-378C>G)
 gnomAD v4
17g.42536637C>TCA399596315NAGLUc.365C>T (p.Thr122Ile)
c.115C>T
c.108C>T (p.Asp36=)
c.-378C>T (n.-378C>T)
 dbSNP gnomAD v4
17g.42536638C>ACA500215955NAGLUc.366C>A (p.Thr122=)
c.116C>A
c.109C>A (p.Arg37=)
c.-377C>A (n.-377C>A)
 ClinVar dbSNP gnomAD v4
17g.42536638C=CA2260526862NAGLUc.366C= (p.Thr122=)
c.116C=
c.109C= (p.Arg37=)
c.-377C= (n.-377C=)
17g.42536638C>GCA8576709NAGLUc.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
17g.42536638C>TCA399596318NAGLUc.366C>T (p.Thr122=)
c.116C>T
c.109C>T (p.Arg37Ter)
c.-377C>T (n.-377C>T)
 dbSNP gnomAD v4
17g.42536638_42536639insACGTTTCGGCAATAGCGAGACTGCAGTGTTACTGCGAGAAACTCACGTGGCTCA2741536695NAGLUc.366_367insACGTTTCGGCAATAGCGAGACTGCAGTGTTACTGCGAGAAACTCACGTGGCT (p.Glu123ThrfsTer5)
c.116_117insACGTTTCGGCAATAGCGAGACTGCAGTGTTACTGCGAGAAACTCACGTGGCT
c.109_110insACGTTTCGGCAATAGCGAGACTGCAGTGTTACTGCGAGAAACTCACGTGGCT (p.Arg37HisfsTer37)
c.-377_-376insACGTTTCGGCAATAGCGAGACTGCAGTGTTACTGCGAGAAACTCACGTGGCT (n.-377_-376insACGTTTCGGCAATAGCGAGACTGCAGTGTTACTGCGAGAAACTCACGTGGCT)
17g.42536639G>ACA399596320NAGLUc.367G>A (p.Glu123Lys)
c.117G>A
c.110G>A (p.Arg37Gln)
c.-376G>A (n.-376G>A)
 gnomAD v4
17g.42536639G>CCA399596324NAGLUc.367G>C (p.Glu123Gln)
c.117G>C
c.110G>C (p.Arg37Pro)
c.-376G>C (n.-376G>C)
17g.42536639G=CA2260526863NAGLUc.367G= (p.Glu123=)
c.117G=
c.110G= (p.Arg37=)
c.-376G= (n.-376G=)
17g.42536639G>TCA248375NAGLUc.367G>T (p.Glu123Ter)
c.117G>T
c.110G>T (p.Arg37Leu)
c.-376G>T (n.-376G>T)
 ClinVar dbSNP gnomAD v4
17g.42536640A>CCA399596328NAGLUc.368A>C (p.Glu123Ala)
c.118A>C
c.111A>C (p.Arg37=)
c.-375A>C (n.-375A>C)
17g.42536640A>GCA399596331NAGLUc.368A>G (p.Glu123Gly)
c.118A>G
c.111A>G (p.Arg37=)
c.-375A>G (n.-375A>G)
 gnomAD v4
17g.42536640A>TCA399596333NAGLUc.368A>T (p.Glu123Val)
c.118A>T
c.111A>T (p.Arg37=)
c.-375A>T (n.-375A>T)
17g.42536640_42536646delCA913012314NAGLUc.368_374del (p.Glu123GlyfsTer30)
c.118_124del
c.111_117del (p.Gly38ProfsTer10)
c.-375_-369del (n.-375_-369del)
c.368_374del (p.Glu123GlyfsTer?)
17g.42536640_42536646delinsAGGCCACCA2260526864NAGLUc.368_374delinsAGGCCAC (p.Glu123=)
c.118_124delinsAGGCCAC
c.111_117delinsAGGCCAC (p.Arg37=)
c.-375_-369delinsAGGCCAC (n.-375_-369delinsAGGCCAC)
17g.42536641G>ACA399596336NAGLUc.369G>A (p.Glu123=)
c.119G>A
c.112G>A (p.Gly38Ser)
c.-374G>A (n.-374G>A)
 gnomAD v4
17g.42536641G>CCA399596338NAGLUc.369G>C (p.Glu123Asp)
c.119G>C
c.112G>C (p.Gly38Arg)
c.-374G>C (n.-374G>C)
17g.42536641G>TCA399596340NAGLUc.369G>T (p.Glu123Asp)
c.119G>T
c.112G>T (p.Gly38Cys)
c.-374G>T (n.-374G>T)
 gnomAD v4
17g.42536642_42536647delCA658823948NAGLUc.370_375del (p.Ala124_Thr125del)
c.120_125del
c.113_118del (p.Gly38_His39del)
c.-373_-368del (n.-373_-368del)
 ClinVar dbSNP
17g.42536642G>ACA399596344NAGLUc.370G>A (p.Ala124Thr)
c.120G>A
c.113G>A (p.Gly38Asp)
c.-373G>A (n.-373G>A)
 gnomAD v4
17g.42536642G>CCA399596349NAGLUc.370G>C (p.Ala124Pro)
c.120G>C
c.113G>C (p.Gly38Ala)
c.-373G>C (n.-373G>C)
 gnomAD v4
17g.42536642G>TCA399596353NAGLUc.370G>T (p.Ala124Ser)
c.120G>T
c.113G>T (p.Gly38Val)
c.-373G>T (n.-373G>T)
 gnomAD v4
17g.42536643C>ACA399596356NAGLUc.371C>A (p.Ala124Asp)
c.121C>A
c.114C>A (p.Gly38=)
c.-372C>A (n.-372C>A)
 gnomAD v4
17g.42536643C>GCA399596359NAGLUc.371C>G (p.Ala124Gly)
c.121C>G
c.114C>G (p.Gly38=)
c.-372C>G (n.-372C>G)
 gnomAD v4
17g.42536643C>TCA399596362NAGLUc.371C>T (p.Ala124Val)
c.121C>T
c.114C>T (p.Gly38=)
c.-372C>T (n.-372C>T)
 gnomAD v4
17g.42536644C>ACA399596370NAGLUc.372C>A (p.Ala124=)
c.122C>A
c.115C>A (p.His39Asn)
c.-371C>A (n.-371C>A)
 gnomAD v4
17g.42536644C=CA2260526865NAGLUc.372C= (p.Ala124=)
c.122C=
c.115C= (p.His39=)
c.-371C= (n.-371C=)
17g.42536644C>GCA399596368NAGLUc.372C>G (p.Ala124=)
c.122C>G
c.115C>G (p.His39Asp)
c.-371C>G (n.-371C>G)
 dbSNP gnomAD v4
17g.42536644C>TCA399596369NAGLUc.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
17g.42536645A>CCA399596375NAGLUc.373A>C (p.Thr125Pro)
c.123A>C
c.116A>C (p.His39Pro)
c.-370A>C (n.-370A>C)
17g.42536645A>GCA399596378NAGLUc.373A>G (p.Thr125Ala)
c.123A>G
c.116A>G (p.His39Arg)
c.-370A>G (n.-370A>G)
 gnomAD v4
17g.42536645A>TCA399596382NAGLUc.373A>T (p.Thr125Ser)
c.123A>T
c.116A>T (p.His39Leu)
c.-370A>T (n.-370A>T)
17g.42536646C>ACA399596385NAGLUc.374C>A (p.Thr125Lys)
c.124C>A
c.117C>A (p.His39Gln)
c.-369C>A (n.-369C>A)
 gnomAD v4
17g.42536646C>GCA399596390NAGLUc.374C>G (p.Thr125Arg)
c.124C>G
c.117C>G (p.His39Gln)
c.-369C>G (n.-369C>G)
17g.42536646C>TCA399596392NAGLUc.374C>T (p.Thr125Met)
c.124C>T
c.117C>T (p.His39=)
c.-369C>T (n.-369C>T)
 gnomAD v4
17g.42536647G>ACA399596393NAGLUc.375G>A (p.Thr125=)
c.125G>A
c.118G>A (p.Ala40Thr)
c.-368G>A (n.-368G>A)
 gnomAD v4
17g.42536647G>CCA399596395NAGLUc.375G>C (p.Thr125=)
c.125G>C
c.118G>C (p.Ala40Pro)
c.-368G>C (n.-368G>C)
17g.42536647G>TCA399596396NAGLUc.375G>T (p.Thr125=)
c.125G>T
c.118G>T (p.Ala40Ser)
c.-368G>T (n.-368G>T)
 gnomAD v4
17g.42536648C>ACA399596398NAGLUc.376C>A (p.Pro126Thr)
c.126C>A
c.119C>A (p.Ala40Asp)
c.-367C>A (n.-367C>A)
 gnomAD v4
17g.42536648C>GCA399596402NAGLUc.376C>G (p.Pro126Ala)
c.126C>G
c.119C>G (p.Ala40Gly)
c.-367C>G (n.-367C>G)
17g.42536648C>TCA399596405NAGLUc.376C>T (p.Pro126Ser)
c.126C>T
c.119C>T (p.Ala40Val)
c.-367C>T (n.-367C>T)
 gnomAD v4
17g.42536649C>ACA399596413NAGLUc.377C>A (p.Pro126His)
c.127C>A
c.120C>A (p.Ala40=)
c.-366C>A (n.-366C>A)
 gnomAD v4
17g.42536649C=CA2260526866NAGLUc.377C= (p.Pro126=)
c.127C=
c.120C= (p.Ala40=)
c.-366C= (n.-366C=)
17g.42536649C>GCA399596415NAGLUc.377C>G (p.Pro126Arg)
c.127C>G
c.120C>G (p.Ala40=)
c.-366C>G (n.-366C>G)
17g.42536649C>TCA399596410NAGLUc.377C>T (p.Pro126Leu)
c.127C>T
c.120C>T (p.Ala40=)
c.-366C>T (n.-366C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.42536650C>ACA399596423NAGLUc.378C>A (p.Pro126=)
c.128C>A
c.121C>A (p.Gln41Lys)
c.-365C>A (n.-365C>A)
 gnomAD v4
17g.42536650C>GCA399596419NAGLUc.378C>G (p.Pro126=)
c.128C>G
c.121C>G (p.Gln41Glu)
c.-365C>G (n.-365C>G)
17g.42536650C>TCA399596426NAGLUc.378C>T (p.Pro126=)
c.128C>T
c.121C>T (p.Gln41Ter)
c.-365C>T (n.-365C>T)
 gnomAD v4
17g.42536651A>CCA399596440NAGLUc.379A>C (p.Asn127His)
c.129A>C
c.122A>C (p.Gln41Pro)
c.-364A>C (n.-364A>C)
 ClinVar dbSNP
17g.42536651A>GCA399596442NAGLUc.379A>G (p.Asn127Asp)
c.129A>G
c.122A>G (p.Gln41Arg)
c.-364A>G (n.-364A>G)
 gnomAD v4
17g.42536651A>TCA399596444NAGLUc.379A>T (p.Asn127Tyr)
c.129A>T
c.122A>T (p.Gln41Leu)
c.-364A>T (n.-364A>T)
17g.42536652A=CA2260526867NAGLUc.380A= (p.Asn127=)
c.130A=
c.123A= (p.Gln41=)
c.-363A= (n.-363A=)
17g.42536652A>CCA399596449NAGLUc.380A>C (p.Asn127Thr)
c.130A>C
c.123A>C (p.Gln41His)
c.-363A>C (n.-363A>C)
 dbSNP
17g.42536652A>GCA399596456NAGLUc.380A>G (p.Asn127Ser)
c.130A>G
c.123A>G (p.Gln41=)
c.-363A>G (n.-363A>G)
 ClinVar gnomAD v4
17g.42536652A>TCA399596459NAGLUc.380A>T (p.Asn127Ile)
c.130A>T
c.123A>T (p.Gln41His)
c.-363A>T (n.-363A>T)
 gnomAD v4
17g.42536653C>ACA399596463NAGLUc.381C>A (p.Asn127Lys)
c.131C>A
c.124C>A (p.Gln42Lys)
c.-362C>A (n.-362C>A)
 gnomAD v4
17g.42536653C=CA2260526868NAGLUc.381C= (p.Asn127=)
c.131C=
c.124C= (p.Gln42=)
c.-362C= (n.-362C=)
17g.42536653C>GCA290771445NAGLUc.381C>G (p.Asn127Lys)
c.131C>G
c.124C>G (p.Gln42Glu)
c.-362C>G (n.-362C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.42536653C>TCA399596469NAGLUc.381C>T (p.Asn127=)
c.131C>T
c.124C>T (p.Gln42Ter)
c.-362C>T (n.-362C>T)
 ClinVar dbSNP gnomAD v4
17g.42536654A>CCA399596472NAGLUc.382A>C (p.Arg128=)
c.132A>C
c.125A>C (p.Gln42Pro)
c.-361A>C (n.-361A>C)
17g.42536654A>GCA399596475NAGLUc.382A>G (p.Arg128Gly)
c.132A>G
c.125A>G (p.Gln42Arg)
c.-361A>G (n.-361A>G)
 gnomAD v4
17g.42536654A>TCA399596479NAGLUc.382A>T (p.Arg128Trp)
c.132A>T
c.125A>T (p.Gln42Leu)
c.-361A>T (n.-361A>T)
c.382A>T (p.Arg128Ter)
 gnomAD v4
17g.42536655G>ACA399596489NAGLUc.383G>A (p.Arg128Lys)
c.133G>A
c.126G>A (p.Gln42=)
c.-360G>A (n.-360G>A)
17g.42536655G>CCA399596485NAGLUc.383G>C (p.Arg128Thr)
c.133G>C
c.126G>C (p.Gln42His)
c.-360G>C (n.-360G>C)
 gnomAD v4
17g.42536655G>TCA399596487NAGLUc.383G>T (p.Arg128Met)
c.133G>T
c.126G>T (p.Gln42His)
c.-360G>T (n.-360G>T)
c.383G>T (p.Arg128Ile)
 gnomAD v4
17g.42536656G>ACA399596491NAGLUc.383+1G>A (n.383+1G>A)
c.133+1G>A
c.126+1G>A (n.126+1G>A)
c.-360+1G>A (n.-360+1G>A)
 gnomAD v4
17g.42536656G>CCA399596494NAGLUc.383+1G>C (n.383+1G>C)
c.133+1G>C
c.126+1G>C (n.126+1G>C)
c.-360+1G>C (n.-360+1G>C)
 gnomAD v4
17g.42536656G=CA2260526869NAGLUc.383+1G= (n.383+1G=)
c.133+1G=
c.126+1G= (n.126+1G=)
c.-360+1G= (n.-360+1G=)
17g.42536656G>TCA234307NAGLUc.383+1G>T (n.383+1G>T)
c.133+1G>T
c.126+1G>T (n.126+1G>T)
c.-360+1G>T (n.-360+1G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched