Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.28734777A=CA2254442005NEK8c.259A= (p.Thr87=)
c.142A= (p.Thr48=)
n.296A=
n.257A=
c.331A= (p.Thr111=)
c.15A= (p.Ala5=)
n.463A=
17g.28734777A>CCA398423584NEK8c.259A>C (p.Thr87Pro)
c.142A>C (p.Thr48Pro)
n.296A>C
n.257A>C
c.331A>C (p.Thr111Pro)
c.15A>C (p.Ala5=)
n.463A>C
 gnomAD v4
17g.28734777A>GCA398423587NEK8c.259A>G (p.Thr87Ala)
c.142A>G (p.Thr48Ala)
n.296A>G
n.257A>G
c.331A>G (p.Thr111Ala)
c.15A>G (p.Ala5=)
n.463A>G
 ClinVar dbSNP
17g.28734777A>TCA398423596NEK8c.259A>T (p.Thr87Ser)
c.142A>T (p.Thr48Ser)
n.296A>T
n.257A>T
c.331A>T (p.Thr111Ser)
c.15A>T (p.Ala5=)
n.463A>T
17g.28734778C>ACA398423608NEK8c.260C>A (p.Thr87Asn)
c.143C>A (p.Thr48Asn)
n.297C>A
n.258C>A
c.332C>A (p.Thr111Asn)
c.16C>A (p.Leu6Ile)
n.464C>A
17g.28734778C>GCA398423614NEK8c.260C>G (p.Thr87Ser)
c.143C>G (p.Thr48Ser)
n.297C>G
n.258C>G
c.332C>G (p.Thr111Ser)
c.16C>G (p.Leu6Val)
n.464C>G
17g.28734778C>TCA398423616NEK8c.260C>T (p.Thr87Ile)
c.143C>T (p.Thr48Ile)
n.297C>T
n.258C>T
c.332C>T (p.Thr111Ile)
c.16C>T (p.Leu6Phe)
n.464C>T
17g.28734779T>ACA499130156NEK8c.261T>A (p.Thr87=)
c.144T>A (p.Thr48=)
n.298T>A
n.259T>A
c.333T>A (p.Thr111=)
c.17T>A (p.Leu6His)
n.465T>A
17g.28734779T>CCA499130158NEK8c.261T>C (p.Thr87=)
c.144T>C (p.Thr48=)
n.298T>C
n.259T>C
c.333T>C (p.Thr111=)
c.17T>C (p.Leu6Pro)
n.465T>C
17g.28734779T>GCA499130157NEK8c.261T>G (p.Thr87=)
c.144T>G (p.Thr48=)
n.298T>G
n.259T>G
c.333T>G (p.Thr111=)
c.17T>G (p.Leu6Arg)
n.465T>G
17g.28734780C>ACA398423628NEK8c.262C>A (p.Leu88Met)
c.145C>A (p.Leu49Met)
n.299C>A
n.260C>A
c.334C>A (p.Leu112Met)
c.18C>A (p.Leu6=)
n.466C>A
17g.28734780C>GCA398423632NEK8c.262C>G (p.Leu88Val)
c.145C>G (p.Leu49Val)
n.299C>G
n.260C>G
c.334C>G (p.Leu112Val)
c.18C>G (p.Leu6=)
n.466C>G
17g.28734780C>TCA499130159NEK8c.262C>T (p.Leu88=)
c.145C>T (p.Leu49=)
n.299C>T
n.260C>T
c.334C>T (p.Leu112=)
c.18C>T (p.Leu6=)
n.466C>T
17g.28734781T>ACA398423641NEK8c.263T>A (p.Leu88Gln)
c.146T>A (p.Leu49Gln)
n.300T>A
n.261T>A
c.335T>A (p.Leu112Gln)
c.19T>A (p.Trp7Arg)
n.467T>A
17g.28734781T>CCA398423646NEK8c.263T>C (p.Leu88Pro)
c.146T>C (p.Leu49Pro)
n.300T>C
n.261T>C
c.335T>C (p.Leu112Pro)
c.19T>C (p.Trp7Arg)
n.467T>C
 gnomAD v4
17g.28734781T>GCA398423637NEK8c.263T>G (p.Leu88Arg)
c.146T>G (p.Leu49Arg)
n.300T>G
n.261T>G
c.335T>G (p.Leu112Arg)
c.19T>G (p.Trp7Gly)
n.467T>G
17g.28734782G>ACA499130162NEK8c.264G>A (p.Leu88=)
c.147G>A (p.Leu49=)
n.301G>A
n.262G>A
c.336G>A (p.Leu112=)
c.20G>A (p.Trp7Ter)
n.468G>A
17g.28734782G>CCA499130163NEK8c.264G>C (p.Leu88=)
c.147G>C (p.Leu49=)
n.301G>C
n.262G>C
c.336G>C (p.Leu112=)
c.20G>C (p.Trp7Ser)
n.468G>C
17g.28734782G=CA2254442006NEK8c.264G= (p.Leu88=)
c.147G= (p.Leu49=)
n.301G=
n.262G=
c.336G= (p.Leu112=)
c.20G= (p.Trp7=)
n.468G=
17g.28734782G>TCA499130164NEK8c.264G>T (p.Leu88=)
c.147G>T (p.Leu49=)
n.301G>T
n.262G>T
c.336G>T (p.Leu112=)
c.20G>T (p.Trp7Leu)
n.468G>T
 dbSNP
17g.28734783G>ACA398423667NEK8c.265G>A (p.Ala89Thr)
c.148G>A (p.Ala50Thr)
n.302G>A
n.263G>A
c.337G>A (p.Ala113Thr)
c.21G>A (p.Trp7Ter)
n.469G>A
 dbSNP gnomAD v2 gnomAD v4
17g.28734783G>CCA398423669NEK8c.265G>C (p.Ala89Pro)
c.148G>C (p.Ala50Pro)
n.302G>C
n.263G>C
c.337G>C (p.Ala113Pro)
c.21G>C (p.Trp7Cys)
n.469G>C
17g.28734783G=CA2254442007NEK8c.265G= (p.Ala89=)
c.148G= (p.Ala50=)
n.302G=
n.263G=
c.337G= (p.Ala113=)
c.21G= (p.Trp7=)
n.469G=
17g.28734783G>TCA398423673NEK8c.265G>T (p.Ala89Ser)
c.148G>T (p.Ala50Ser)
n.302G>T
n.263G>T
c.337G>T (p.Ala113Ser)
c.21G>T (p.Trp7Cys)
n.469G>T
17g.28734784C>ACA398423678NEK8c.266C>A (p.Ala89Asp)
c.149C>A (p.Ala50Asp)
n.303C>A
n.264C>A
c.338C>A (p.Ala113Asp)
c.22C>A (p.Leu8Met)
n.470C>A
 gnomAD v4
17g.28734784C>GCA398423680NEK8c.266C>G (p.Ala89Gly)
c.149C>G (p.Ala50Gly)
n.303C>G
n.264C>G
c.338C>G (p.Ala113Gly)
c.22C>G (p.Leu8Val)
n.470C>G
17g.28734784C>TCA398423685NEK8c.266C>T (p.Ala89Val)
c.149C>T (p.Ala50Val)
n.303C>T
n.264C>T
c.338C>T (p.Ala113Val)
c.22C>T (p.Leu8=)
n.470C>T
17g.28734785T>ACA499130166NEK8c.267T>A (p.Ala89=)
c.150T>A (p.Ala50=)
n.304T>A
n.265T>A
c.339T>A (p.Ala113=)
c.23T>A (p.Leu8Gln)
n.471T>A
17g.28734785T>CCA499130169NEK8c.267T>C (p.Ala89=)
c.150T>C (p.Ala50=)
n.304T>C
n.265T>C
c.339T>C (p.Ala113=)
c.23T>C (p.Leu8Pro)
n.471T>C
 gnomAD v4
17g.28734785T>GCA499130168NEK8c.267T>G (p.Ala89=)
c.150T>G (p.Ala50=)
n.304T>G
n.265T>G
c.339T>G (p.Ala113=)
c.23T>G (p.Leu8Arg)
n.471T>G
17g.28734786G>ACA398423689NEK8c.268G>A (p.Glu90Lys)
c.151G>A (p.Glu51Lys)
n.305G>A
n.266G>A
c.340G>A (p.Glu114Lys)
c.24G>A (p.Leu8=)
n.472G>A
 dbSNP gnomAD v2 gnomAD v4
17g.28734786G>CCA398423691NEK8c.268G>C (p.Glu90Gln)
c.151G>C (p.Glu51Gln)
n.305G>C
n.266G>C
c.340G>C (p.Glu114Gln)
c.24G>C (p.Leu8=)
n.472G>C
17g.28734786G=CA2254442008NEK8c.268G= (p.Glu90=)
c.151G= (p.Glu51=)
n.305G=
n.266G=
c.340G= (p.Glu114=)
c.24G= (p.Leu8=)
n.472G=
17g.28734786G>TCA398423690NEK8c.268G>T (p.Glu90Ter)
c.151G>T (p.Glu51Ter)
n.305G>T
n.266G>T
c.340G>T (p.Glu114Ter)
c.24G>T (p.Leu8=)
n.472G>T
17g.28734787A=CA2254442009NEK8c.269A= (p.Glu90=)
c.152A= (p.Glu51=)
n.306A=
n.267A=
c.341A= (p.Glu114=)
c.25A= (p.Ser9=)
n.473A=
17g.28734787A>CCA398423694NEK8c.269A>C (p.Glu90Ala)
c.152A>C (p.Glu51Ala)
n.306A>C
n.267A>C
c.341A>C (p.Glu114Ala)
c.25A>C (p.Ser9Arg)
n.473A>C
17g.28734787A>GCA8467053NEK8c.269A>G (p.Glu90Gly)
c.152A>G (p.Glu51Gly)
n.306A>G
n.267A>G
c.341A>G (p.Glu114Gly)
c.25A>G (p.Ser9Gly)
n.473A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.28734787A>TCA398423701NEK8c.269A>T (p.Glu90Val)
c.152A>T (p.Glu51Val)
n.306A>T
n.267A>T
c.341A>T (p.Glu114Val)
c.25A>T (p.Ser9Cys)
n.473A>T
 gnomAD v4
17g.28734788G>ACA499130172NEK8c.270G>A (p.Glu90=)
c.153G>A (p.Glu51=)
n.307G>A
n.268G>A
c.342G>A (p.Glu114=)
c.26G>A (p.Ser9Asn)
n.474G>A
17g.28734788G>CCA398423718NEK8c.270G>C (p.Glu90Asp)
c.153G>C (p.Glu51Asp)
n.307G>C
n.268G>C
c.342G>C (p.Glu114Asp)
c.26G>C (p.Ser9Thr)
n.474G>C
 dbSNP
17g.28734788G=CA2254442010NEK8c.270G= (p.Glu90=)
c.153G= (p.Glu51=)
n.307G=
n.268G=
c.342G= (p.Glu114=)
c.26G= (p.Ser9=)
n.474G=
17g.28734788G>TCA398423722NEK8c.270G>T (p.Glu90Asp)
c.153G>T (p.Glu51Asp)
n.307G>T
n.268G>T
c.342G>T (p.Glu114Asp)
c.26G>T (p.Ser9Ile)
n.474G>T
17g.28734789T>ACA289148505NEK8c.271T>A (p.Phe91Ile)
c.154T>A (p.Phe52Ile)
n.308T>A
n.269T>A
c.343T>A (p.Phe115Ile)
c.27T>A (p.Ser9Arg)
n.475T>A
 dbSNP
17g.28734789T>CCA398423741NEK8c.271T>C (p.Phe91Leu)
c.154T>C (p.Phe52Leu)
n.308T>C
n.269T>C
c.343T>C (p.Phe115Leu)
c.27T>C (p.Ser9=)
n.475T>C
17g.28734789T>GCA398423731NEK8c.271T>G (p.Phe91Val)
c.154T>G (p.Phe52Val)
n.308T>G
n.269T>G
c.343T>G (p.Phe115Val)
c.27T>G (p.Ser9Arg)
n.475T>G
17g.28734789T=CA2254442011NEK8c.271T= (p.Phe91=)
c.154T= (p.Phe52=)
n.308T=
n.269T=
c.343T= (p.Phe115=)
c.27T= (p.Ser9=)
n.475T=
17g.28734790T>ACA398423745NEK8c.272T>A (p.Phe91Tyr)
c.155T>A (p.Phe52Tyr)
n.309T>A
n.270T>A
c.344T>A (p.Phe115Tyr)
c.28T>A (p.Ser10Thr)
n.476T>A
17g.28734790T>CCA398423747NEK8c.272T>C (p.Phe91Ser)
c.155T>C (p.Phe52Ser)
n.309T>C
n.270T>C
c.344T>C (p.Phe115Ser)
c.28T>C (p.Ser10Pro)
n.476T>C
 gnomAD v4
17g.28734790T>GCA398423749NEK8c.272T>G (p.Phe91Cys)
c.155T>G (p.Phe52Cys)
n.309T>G
n.270T>G
c.344T>G (p.Phe115Cys)
c.28T>G (p.Ser10Ala)
n.476T>G
17g.28734791C>ACA398423753NEK8c.273C>A (p.Phe91Leu)
c.156C>A (p.Phe52Leu)
n.310C>A
n.271C>A
c.345C>A (p.Phe115Leu)
c.29C>A (p.Ser10Ter)
n.477C>A
17g.28734791C>GCA398423755NEK8c.273C>G (p.Phe91Leu)
c.156C>G (p.Phe52Leu)
n.310C>G
n.271C>G
c.345C>G (p.Phe115Leu)
c.29C>G (p.Ser10Ter)
n.477C>G
17g.28734791C>TCA499130177NEK8c.273C>T (p.Phe91=)
c.156C>T (p.Phe52=)
n.310C>T
n.271C>T
c.345C>T (p.Phe115=)
c.29C>T (p.Ser10Leu)
n.477C>T
17g.28734792A=CA2254442012NEK8c.274A= (p.Ile92=)
c.157A= (p.Ile53=)
n.311A=
n.272A=
c.346A= (p.Ile116=)
c.30A= (p.Ser10=)
n.478A=
17g.28734792A>CCA398423769NEK8c.274A>C (p.Ile92Leu)
c.157A>C (p.Ile53Leu)
n.311A>C
n.272A>C
c.346A>C (p.Ile116Leu)
c.30A>C (p.Ser10=)
n.478A>C
17g.28734792A>GCA398423763NEK8c.274A>G (p.Ile92Val)
c.157A>G (p.Ile53Val)
n.311A>G
n.272A>G
c.346A>G (p.Ile116Val)
c.30A>G (p.Ser10=)
n.478A>G
17g.28734792A>TCA8467054NEK8c.274A>T (p.Ile92Phe)
c.157A>T (p.Ile53Phe)
n.311A>T
n.272A>T
c.346A>T (p.Ile116Phe)
c.30A>T (p.Ser10=)
n.478A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28734793T>ACA398423778NEK8c.275T>A (p.Ile92Asn)
c.158T>A (p.Ile53Asn)
n.312T>A
n.273T>A
c.347T>A (p.Ile116Asn)
c.31T>A (p.Ser11Thr)
n.479T>A
17g.28734793T>CCA398423782NEK8c.275T>C (p.Ile92Thr)
c.158T>C (p.Ile53Thr)
n.312T>C
n.273T>C
c.347T>C (p.Ile116Thr)
c.31T>C (p.Ser11Pro)
n.479T>C
17g.28734793T>GCA398423784NEK8c.275T>G (p.Ile92Ser)
c.158T>G (p.Ile53Ser)
n.312T>G
n.273T>G
c.347T>G (p.Ile116Ser)
c.31T>G (p.Ser11Ala)
n.479T>G
17g.28734794C>ACA499130181NEK8c.276C>A (p.Ile92=)
c.159C>A (p.Ile53=)
n.313C>A
n.274C>A
c.348C>A (p.Ile116=)
c.32C>A (p.Ser11Tyr)
n.480C>A
17g.28734794C=CA2254442013NEK8c.276C= (p.Ile92=)
c.159C= (p.Ile53=)
n.313C=
n.274C=
c.348C= (p.Ile116=)
c.32C= (p.Ser11=)
n.480C=
17g.28734794C>GCA398423786NEK8c.276C>G (p.Ile92Met)
c.159C>G (p.Ile53Met)
n.313C>G
n.274C>G
c.348C>G (p.Ile116Met)
c.32C>G (p.Ser11Cys)
n.480C>G
17g.28734794C>TCA8467055NEK8c.276C>T (p.Ile92=)
c.159C>T (p.Ile53=)
n.313C>T
n.274C>T
c.348C>T (p.Ile116=)
c.32C>T (p.Ser11Phe)
n.480C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.28734795C>ACA398423799NEK8c.277C>A (p.Gln93Lys)
c.160C>A (p.Gln54Lys)
n.314C>A
n.275C>A
c.349C>A (p.Gln117Lys)
c.33C>A (p.Ser11=)
n.481C>A
17g.28734795C>GCA398423791NEK8c.277C>G (p.Gln93Glu)
c.160C>G (p.Gln54Glu)
n.314C>G
n.275C>G
c.349C>G (p.Gln117Glu)
c.33C>G (p.Ser11=)
n.481C>G
17g.28734795C>TCA398423795NEK8c.277C>T (p.Gln93Ter)
c.160C>T (p.Gln54Ter)
n.314C>T
n.275C>T
c.349C>T (p.Gln117Ter)
c.33C>T (p.Ser11=)
n.481C>T
17g.28734796A>CCA398423802NEK8c.278A>C (p.Gln93Pro)
c.161A>C (p.Gln54Pro)
n.315A>C
n.276A>C
c.350A>C (p.Gln117Pro)
c.34A>C (p.Lys12Gln)
n.482A>C
17g.28734796A>GCA398423806NEK8c.278A>G (p.Gln93Arg)
c.161A>G (p.Gln54Arg)
n.315A>G
n.276A>G
c.350A>G (p.Gln117Arg)
c.34A>G (p.Lys12Glu)
n.482A>G
17g.28734796A>TCA398423809NEK8c.278A>T (p.Gln93Leu)
c.161A>T (p.Gln54Leu)
n.315A>T
n.276A>T
c.350A>T (p.Gln117Leu)
c.34A>T (p.Lys12Ter)
n.482A>T
17g.28734799dupCA645594388NEK8c.281dup (p.Arg95AlafsTer3)
c.164dup (p.Arg56AlafsTer3)
n.318dup
n.279dup
c.353dup (p.Arg119AlafsTer3)
c.37dup (p.Ser13LysfsTer?)
n.485dup
 COSMIC COSMIC
17g.28734797A>CCA398423810NEK8c.279A>C (p.Gln93His)
c.162A>C (p.Gln54His)
n.316A>C
n.277A>C
c.351A>C (p.Gln117His)
c.35A>C (p.Lys12Thr)
n.483A>C
 gnomAD v4
17g.28734797A>GCA499130183NEK8c.279A>G (p.Gln93=)
c.162A>G (p.Gln54=)
n.316A>G
n.277A>G
c.351A>G (p.Gln117=)
c.35A>G (p.Lys12Arg)
n.483A>G
17g.28734797A>TCA398423811NEK8c.279A>T (p.Gln93His)
c.162A>T (p.Gln54His)
n.316A>T
n.277A>T
c.351A>T (p.Gln117His)
c.35A>T (p.Lys12Ile)
n.483A>T
17g.28734798A=CA2254442014NEK8c.280A= (p.Lys94=)
c.163A= (p.Lys55=)
n.317A=
n.278A=
c.352A= (p.Lys118=)
c.36A= (p.Lys12=)
n.484A=
17g.28734798A>CCA289148526NEK8c.280A>C (p.Lys94Gln)
c.163A>C (p.Lys55Gln)
n.317A>C
n.278A>C
c.352A>C (p.Lys118Gln)
c.36A>C (p.Lys12Asn)
n.484A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.28734798A>GCA398423813NEK8c.280A>G (p.Lys94Glu)
c.163A>G (p.Lys55Glu)
n.317A>G
n.278A>G
c.352A>G (p.Lys118Glu)
c.36A>G (p.Lys12=)
n.484A>G
17g.28734798A>TCA398423826NEK8c.280A>T (p.Lys94Ter)
c.163A>T (p.Lys55Ter)
n.317A>T
n.278A>T
c.352A>T (p.Lys118Ter)
c.36A>T (p.Lys12Asn)
n.484A>T
17g.28734799A=CA2254442015NEK8c.281A= (p.Lys94=)
c.164A= (p.Lys55=)
n.318A=
n.279A=
c.353A= (p.Lys118=)
c.37A= (p.Ser13=)
n.485A=
17g.28734799A>CCA398423833NEK8c.281A>C (p.Lys94Thr)
c.164A>C (p.Lys55Thr)
n.318A>C
n.279A>C
c.353A>C (p.Lys118Thr)
c.37A>C (p.Ser13Arg)
n.485A>C
17g.28734799A>GCA398423841NEK8c.281A>G (p.Lys94Arg)
c.164A>G (p.Lys55Arg)
n.318A>G
n.279A>G
c.353A>G (p.Lys118Arg)
c.37A>G (p.Ser13Gly)
n.485A>G
17g.28734799A>TCA8467056NEK8c.281A>T (p.Lys94Met)
c.164A>T (p.Lys55Met)
n.318A>T
n.279A>T
c.353A>T (p.Lys118Met)
c.37A>T (p.Ser13Cys)
n.485A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.28734800G>ACA499130185NEK8c.282G>A (p.Lys94=)
c.165G>A (p.Lys55=)
n.319G>A
n.280G>A
c.354G>A (p.Lys118=)
c.38G>A (p.Ser13Asn)
n.486G>A
17g.28734800G>CCA398423842NEK8c.282G>C (p.Lys94Asn)
c.165G>C (p.Lys55Asn)
n.319G>C
n.280G>C
c.354G>C (p.Lys118Asn)
c.38G>C (p.Ser13Thr)
n.486G>C
17g.28734800G>TCA398423845NEK8c.282G>T (p.Lys94Asn)
c.165G>T (p.Lys55Asn)
n.319G>T
n.280G>T
c.354G>T (p.Lys118Asn)
c.38G>T (p.Ser13Ile)
n.486G>T
17g.28734801C>ACA398423848NEK8c.283C>A (p.Arg95Ser)
c.166C>A (p.Arg56Ser)
n.320C>A
n.281C>A
c.355C>A (p.Arg119Ser)
c.39C>A (p.Ser13Arg)
n.487C>A
17g.28734801C=CA2254442016NEK8c.283C= (p.Arg95=)
c.166C= (p.Arg56=)
n.320C=
n.281C=
c.355C= (p.Arg119=)
c.39C= (p.Ser13=)
n.487C=
17g.28734801C>GCA398423854NEK8c.283C>G (p.Arg95Gly)
c.166C>G (p.Arg56Gly)
n.320C>G
n.281C>G
c.355C>G (p.Arg119Gly)
c.39C>G (p.Ser13Arg)
n.487C>G
17g.28734801C>TCA398423851NEK8c.283C>T (p.Arg95Cys)
c.166C>T (p.Arg56Cys)
n.320C>T
n.281C>T
c.355C>T (p.Arg119Cys)
c.39C>T (p.Ser13=)
n.487C>T
 dbSNP gnomAD v3 gnomAD v4
17g.28734802G>ACA8467057NEK8c.284G>A (p.Arg95His)
c.167G>A (p.Arg56His)
n.321G>A
n.282G>A
c.356G>A (p.Arg119His)
c.40G>A (p.Ala14Thr)
n.488G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.28734802G>CCA398423864NEK8c.284G>C (p.Arg95Pro)
c.167G>C (p.Arg56Pro)
n.321G>C
n.282G>C
c.356G>C (p.Arg119Pro)
c.40G>C (p.Ala14Pro)
n.488G>C
17g.28734802G=CA2254442017NEK8c.284G= (p.Arg95=)
c.167G= (p.Arg56=)
n.321G=
n.282G=
c.356G= (p.Arg119=)
c.40G= (p.Ala14=)
n.488G=
17g.28734802G>TCA398423867NEK8c.284G>T (p.Arg95Leu)
c.167G>T (p.Arg56Leu)
n.321G>T
n.282G>T
c.356G>T (p.Arg119Leu)
c.40G>T (p.Ala14Ser)
n.488G>T
17g.28734803C>ACA499130188NEK8c.285C>A (p.Arg95=)
c.168C>A (p.Arg56=)
n.322C>A
n.283C>A
c.357C>A (p.Arg119=)
c.41C>A (p.Ala14Asp)
n.489C>A
 dbSNP
17g.28734803C=CA2254442018NEK8c.285C= (p.Arg95=)
c.168C= (p.Arg56=)
n.322C=
n.283C=
c.357C= (p.Arg119=)
c.41C= (p.Ala14=)
n.489C=
17g.28734803C>GCA499130190NEK8c.285C>G (p.Arg95=)
c.168C>G (p.Arg56=)
n.322C>G
n.283C>G
c.357C>G (p.Arg119=)
c.41C>G (p.Ala14Gly)
n.489C>G
17g.28734803C>TCA499130192NEK8c.285C>T (p.Arg95=)
c.168C>T (p.Arg56=)
n.322C>T
n.283C>T
c.357C>T (p.Arg119=)
c.41C>T (p.Ala14Val)
n.489C>T
17g.28734804T>ACA398423876NEK8c.286T>A (p.Cys96Ser)
c.169T>A (p.Cys57Ser)
n.323T>A
n.284T>A
c.358T>A (p.Cys120Ser)
c.42T>A (p.Ala14=)
n.490T>A
17g.28734804T>CCA8467058NEK8c.286T>C (p.Cys96Arg)
c.169T>C (p.Cys57Arg)
n.323T>C
n.284T>C
c.358T>C (p.Cys120Arg)
c.42T>C (p.Ala14=)
n.490T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28734804T>GCA398423884NEK8c.286T>G (p.Cys96Gly)
c.169T>G (p.Cys57Gly)
n.323T>G
n.284T>G
c.358T>G (p.Cys120Gly)
c.42T>G (p.Ala14=)
n.490T>G
17g.28734804T=CA2254442019NEK8c.286T= (p.Cys96=)
c.169T= (p.Cys57=)
n.323T=
n.284T=
c.358T= (p.Cys120=)
c.42T= (p.Ala14=)
n.490T=
17g.28734805G>ACA398423896NEK8c.287G>A (p.Cys96Tyr)
c.170G>A (p.Cys57Tyr)
n.324G>A
n.285G>A
c.359G>A (p.Cys120Tyr)
c.43G>A (p.Val15Ile)
n.491G>A
 dbSNP gnomAD v2 gnomAD v4
17g.28734805G>CCA398423891NEK8c.287G>C (p.Cys96Ser)
c.170G>C (p.Cys57Ser)
n.324G>C
n.285G>C
c.359G>C (p.Cys120Ser)
c.43G>C (p.Val15Leu)
n.491G>C
17g.28734805G=CA2254442020NEK8c.287G= (p.Cys96=)
c.170G= (p.Cys57=)
n.324G=
n.285G=
c.359G= (p.Cys120=)
c.43G= (p.Val15=)
n.491G=
17g.28734805G>TCA398423894NEK8c.287G>T (p.Cys96Phe)
c.170G>T (p.Cys57Phe)
n.324G>T
n.285G>T
c.359G>T (p.Cys120Phe)
c.43G>T (p.Val15Leu)
n.491G>T
 ClinVar
17g.28734806T>ACA398423899NEK8c.288T>A (p.Cys96Ter)
c.171T>A (p.Cys57Ter)
n.325T>A
n.286T>A
c.360T>A (p.Cys120Ter)
c.44T>A (p.Val15Glu)
n.492T>A
17g.28734806T>CCA499130194NEK8c.288T>C (p.Cys96=)
c.171T>C (p.Cys57=)
n.325T>C
n.286T>C
c.360T>C (p.Cys120=)
c.44T>C (p.Val15Ala)
n.492T>C
17g.28734806T>GCA398423905NEK8c.288T>G (p.Cys96Trp)
c.171T>G (p.Cys57Trp)
n.325T>G
n.286T>G
c.360T>G (p.Cys120Trp)
c.44T>G (p.Val15Gly)
n.492T>G
17g.28734807A>CCA398423914NEK8c.289A>C (p.Asn97His)
c.172A>C (p.Asn58His)
n.326A>C
n.287A>C
c.361A>C (p.Asn121His)
c.45A>C (p.Val15=)
n.493A>C
17g.28734807A>GCA398423915NEK8c.289A>G (p.Asn97Asp)
c.172A>G (p.Asn58Asp)
n.326A>G
n.287A>G
c.361A>G (p.Asn121Asp)
c.45A>G (p.Val15=)
n.493A>G
17g.28734807A>TCA398423916NEK8c.289A>T (p.Asn97Tyr)
c.172A>T (p.Asn58Tyr)
n.326A>T
n.287A>T
c.361A>T (p.Asn121Tyr)
c.45A>T (p.Val15=)
n.493A>T
17g.28734808A>CCA398423921NEK8c.290A>C (p.Asn97Thr)
c.173A>C (p.Asn58Thr)
n.327A>C
n.288A>C
c.362A>C (p.Asn121Thr)
c.46A>C (p.Ile16Leu)
n.494A>C
17g.28734808A>GCA398423924NEK8c.290A>G (p.Asn97Ser)
c.173A>G (p.Asn58Ser)
n.327A>G
n.288A>G
c.362A>G (p.Asn121Ser)
c.46A>G (p.Ile16Val)
n.494A>G
 gnomAD v4
17g.28734808A>TCA398423923NEK8c.290A>T (p.Asn97Ile)
c.173A>T (p.Asn58Ile)
n.327A>T
n.288A>T
c.362A>T (p.Asn121Ile)
c.46A>T (p.Ile16Phe)
n.494A>T
17g.28734809T>ACA398423926NEK8c.291T>A (p.Asn97Lys)
c.174T>A (p.Asn58Lys)
n.328T>A
n.289T>A
c.363T>A (p.Asn121Lys)
c.47T>A (p.Ile16Asn)
n.495T>A
17g.28734809T>CCA499130195NEK8c.291T>C (p.Asn97=)
c.174T>C (p.Asn58=)
n.328T>C
n.289T>C
c.363T>C (p.Asn121=)
c.47T>C (p.Ile16Thr)
n.495T>C
17g.28734809T>GCA398423932NEK8c.291T>G (p.Asn97Lys)
c.174T>G (p.Asn58Lys)
n.328T>G
n.289T>G
c.363T>G (p.Asn121Lys)
c.47T>G (p.Ile16Ser)
n.495T>G
17g.28734810T>ACA398423936NEK8c.292T>A (p.Ser98Thr)
c.175T>A (p.Ser59Thr)
n.329T>A
n.290T>A
c.364T>A (p.Ser122Thr)
c.48T>A (p.Ile16=)
n.496T>A
17g.28734810T>CCA398423938NEK8c.292T>C (p.Ser98Pro)
c.175T>C (p.Ser59Pro)
n.329T>C
n.290T>C
c.364T>C (p.Ser122Pro)
c.48T>C (p.Ile16=)
n.496T>C
17g.28734810T>GCA398423940NEK8c.292T>G (p.Ser98Ala)
c.175T>G (p.Ser59Ala)
n.329T>G
n.290T>G
c.364T>G (p.Ser122Ala)
c.48T>G (p.Ile16Met)
n.496T>G
17g.28734811C>ACA398423948NEK8c.293C>A (p.Ser98Tyr)
c.176C>A (p.Ser59Tyr)
n.330C>A
n.291C>A
c.365C>A (p.Ser122Tyr)
c.49C>A (p.Pro17Thr)
n.497C>A
 dbSNP gnomAD v3 gnomAD v4
17g.28734811C=CA2254442021NEK8c.293C= (p.Ser98=)
c.176C= (p.Ser59=)
n.330C=
n.291C=
c.365C= (p.Ser122=)
c.49C= (p.Pro17=)
n.497C=
17g.28734811C>GCA398423951NEK8c.293C>G (p.Ser98Cys)
c.176C>G (p.Ser59Cys)
n.330C>G
n.291C>G
c.365C>G (p.Ser122Cys)
c.49C>G (p.Pro17Ala)
n.497C>G
17g.28734811C>TCA398423956NEK8c.293C>T (p.Ser98Phe)
c.176C>T (p.Ser59Phe)
n.330C>T
n.291C>T
c.365C>T (p.Ser122Phe)
c.49C>T (p.Pro17Ser)
n.497C>T
17g.28734812C>ACA499416990NEK8c.294C>A (p.Ser98=)
c.177C>A (p.Ser59=)
n.331C>A
n.292C>A
c.366C>A (p.Ser122=)
c.50C>A (p.Pro17His)
n.498C>A
17g.28734812C=CA2254442022NEK8c.294C= (p.Ser98=)
c.177C= (p.Ser59=)
n.331C=
n.292C=
c.366C= (p.Ser122=)
c.50C= (p.Pro17=)
n.498C=
17g.28734812C>GCA8467059NEK8c.294C>G (p.Ser98=)
c.177C>G (p.Ser59=)
n.331C>G
n.292C>G
c.366C>G (p.Ser122=)
c.50C>G (p.Pro17Arg)
n.498C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28734812C>TCA499416991NEK8c.294C>T (p.Ser98=)
c.177C>T (p.Ser59=)
n.331C>T
n.292C>T
c.366C>T (p.Ser122=)
c.50C>T (p.Pro17Leu)
n.498C>T
 dbSNP gnomAD v2 gnomAD v4
17g.28734813C>ACA398423967NEK8c.295C>A (p.Leu99Met)
c.178C>A (p.Leu60Met)
n.332C>A
n.293C>A
c.367C>A (p.Leu123Met)
c.51C>A (p.Pro17=)
n.499C>A
17g.28734813C=CA2254442023NEK8c.295C= (p.Leu99=)
c.178C= (p.Leu60=)
n.332C=
n.293C=
c.367C= (p.Leu123=)
c.51C= (p.Pro17=)
n.499C=
17g.28734813C>GCA289148548NEK8c.295C>G (p.Leu99Val)
c.178C>G (p.Leu60Val)
n.332C>G
n.293C>G
c.367C>G (p.Leu123Val)
c.51C>G (p.Pro17=)
n.499C>G
 dbSNP
17g.28734813C>TCA289148553NEK8c.295C>T (p.Leu99=)
c.178C>T (p.Leu60=)
n.332C>T
n.293C>T
c.367C>T (p.Leu123=)
c.51C>T (p.Pro17=)
n.499C>T
 dbSNP
17g.28734814T>ACA398423980NEK8c.296T>A (p.Leu99Gln)
c.179T>A (p.Leu60Gln)
n.333T>A
n.294T>A
c.368T>A (p.Leu123Gln)
c.52T>A (p.Cys18Ser)
n.500T>A
17g.28734814T>CCA398423983NEK8c.296T>C (p.Leu99Pro)
c.179T>C (p.Leu60Pro)
n.333T>C
n.294T>C
c.368T>C (p.Leu123Pro)
c.52T>C (p.Cys18Arg)
n.500T>C
 dbSNP gnomAD v3 gnomAD v4
17g.28734814T>GCA398423978NEK8c.296T>G (p.Leu99Arg)
c.179T>G (p.Leu60Arg)
n.333T>G
n.294T>G
c.368T>G (p.Leu123Arg)
c.52T>G (p.Cys18Gly)
n.500T>G
17g.28734814T=CA2254442024NEK8c.296T= (p.Leu99=)
c.179T= (p.Leu60=)
n.333T=
n.294T=
c.368T= (p.Leu123=)
c.52T= (p.Cys18=)
n.500T=
17g.28734815G>ACA499416994NEK8c.297G>A (p.Leu99=)
c.180G>A (p.Leu60=)
n.334G>A
n.295G>A
c.369G>A (p.Leu123=)
c.53G>A (p.Cys18Tyr)
n.501G>A
17g.28734815G>CCA499416992NEK8c.297G>C (p.Leu99=)
c.180G>C (p.Leu60=)
n.334G>C
n.295G>C
c.369G>C (p.Leu123=)
c.53G>C (p.Cys18Ser)
n.501G>C
17g.28734815G>TCA499416993NEK8c.297G>T (p.Leu99=)
c.180G>T (p.Leu60=)
n.334G>T
n.295G>T
c.369G>T (p.Leu123=)
c.53G>T (p.Cys18Phe)
n.501G>T
17g.28734816C>ACA398423994NEK8c.298C>A (p.Leu100Met)
c.181C>A (p.Leu61Met)
n.335C>A
n.296C>A
c.370C>A (p.Leu124Met)
c.54C>A (p.Cys18Ter)
n.502C>A
17g.28734816C=CA2254442025NEK8c.298C= (p.Leu100=)
c.181C= (p.Leu61=)
n.335C=
n.296C=
c.370C= (p.Leu124=)
c.54C= (p.Cys18=)
n.502C=
17g.28734816C>GCA398423992NEK8c.298C>G (p.Leu100Val)
c.181C>G (p.Leu61Val)
n.335C>G
n.296C>G
c.370C>G (p.Leu124Val)
c.54C>G (p.Cys18Trp)
n.502C>G
17g.28734816C>TCA289148557NEK8c.298C>T (p.Leu100=)
c.181C>T (p.Leu61=)
n.335C>T
n.296C>T
c.370C>T (p.Leu124=)
c.54C>T (p.Cys18=)
n.502C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.28734817T>ACA398424000NEK8c.299T>A (p.Leu100Gln)
c.182T>A (p.Leu61Gln)
n.336T>A
n.297T>A
c.371T>A (p.Leu124Gln)
c.55T>A (p.Trp19Arg)
n.503T>A
17g.28734817T>CCA398424002NEK8c.299T>C (p.Leu100Pro)
c.182T>C (p.Leu61Pro)
n.336T>C
n.297T>C
c.371T>C (p.Leu124Pro)
c.55T>C (p.Trp19Arg)
n.503T>C
17g.28734817T>GCA398424004NEK8c.299T>G (p.Leu100Arg)
c.182T>G (p.Leu61Arg)
n.336T>G
n.297T>G
c.371T>G (p.Leu124Arg)
c.55T>G (p.Trp19Gly)
n.503T>G
17g.28734817_28734820delinsTGGACA2254442026NEK8c.299_302delinsTGGA (p.Leu100=)
c.182_185delinsTGGA (p.Leu61=)
n.336_339delinsTGGA
n.297_300delinsTGGA
c.371_374delinsTGGA (p.Leu124=)
c.55_58delinsTGGA (p.Trp19=)
n.503_506delinsTGGA
17g.28734818G>ACA8467060NEK8c.300G>A (p.Leu100=)
c.183G>A (p.Leu61=)
n.337G>A
n.298G>A
c.372G>A (p.Leu124=)
c.56G>A (p.Trp19Ter)
n.504G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28734818G>CCA499416995NEK8c.300G>C (p.Leu100=)
c.183G>C (p.Leu61=)
n.337G>C
n.298G>C
c.372G>C (p.Leu124=)
c.56G>C (p.Trp19Ser)
n.504G>C
17g.28734818G=CA2254442028NEK8c.300G= (p.Leu100=)
c.183G= (p.Leu61=)
n.337G=
n.298G=
c.372G= (p.Leu124=)
c.56G= (p.Trp19=)
n.504G=
17g.28734818G>TCA499416996NEK8c.300G>T (p.Leu100=)
c.183G>T (p.Leu61=)
n.337G>T
n.298G>T
c.372G>T (p.Leu124=)
c.56G>T (p.Trp19Leu)
n.504G>T
 gnomAD v4
17g.28734825_28734827delCA2254442027NEK8c.307_309del (p.Glu103del)
c.190_192del (p.Glu64del)
n.344_346del
n.305_307del
c.379_381del (p.Glu127del)
c.63_65del (p.Arg22del)
n.511_513del
 ClinVar dbSNP
17g.28734819G>ACA398424010NEK8c.301G>A (p.Glu101Lys)
c.184G>A (p.Glu62Lys)
n.338G>A
n.299G>A
c.373G>A (p.Glu125Lys)
c.57G>A (p.Trp19Ter)
n.505G>A
17g.28734819G>CCA398424011NEK8c.301G>C (p.Glu101Gln)
c.184G>C (p.Glu62Gln)
n.338G>C
n.299G>C
c.373G>C (p.Glu125Gln)
c.57G>C (p.Trp19Cys)
n.505G>C
17g.28734819G>TCA398424013NEK8c.301G>T (p.Glu101Ter)
c.184G>T (p.Glu62Ter)
n.338G>T
n.299G>T
c.373G>T (p.Glu125Ter)
c.57G>T (p.Trp19Cys)
n.505G>T
 gnomAD v4
17g.28734820A>CCA398424017NEK8c.302A>C (p.Glu101Ala)
c.185A>C (p.Glu62Ala)
n.339A>C
n.300A>C
c.374A>C (p.Glu125Ala)
c.58A>C (p.Arg20=)
n.506A>C
 gnomAD v4
17g.28734820A>GCA398424023NEK8c.302A>G (p.Glu101Gly)
c.185A>G (p.Glu62Gly)
n.339A>G
n.300A>G
c.374A>G (p.Glu125Gly)
c.58A>G (p.Arg20Gly)
n.506A>G
17g.28734820A>TCA398424026NEK8c.302A>T (p.Glu101Val)
c.185A>T (p.Glu62Val)
n.339A>T
n.300A>T
c.374A>T (p.Glu125Val)
c.58A>T (p.Arg20Trp)
n.506A>T
17g.28734821G>ACA499416997NEK8c.303G>A (p.Glu101=)
c.186G>A (p.Glu62=)
n.340G>A
n.301G>A
c.375G>A (p.Glu125=)
c.59G>A (p.Arg20Lys)
n.507G>A
17g.28734821G>CCA398424029NEK8c.303G>C (p.Glu101Asp)
c.186G>C (p.Glu62Asp)
n.340G>C
n.301G>C
c.375G>C (p.Glu125Asp)
c.59G>C (p.Arg20Thr)
n.507G>C
17g.28734821G>TCA398424032NEK8c.303G>T (p.Glu101Asp)
c.186G>T (p.Glu62Asp)
n.340G>T
n.301G>T
c.375G>T (p.Glu125Asp)
c.59G>T (p.Arg20Met)
n.507G>T
17g.28734822G>ACA398424044NEK8c.304G>A (p.Glu102Lys)
c.187G>A (p.Glu63Lys)
n.341G>A
n.302G>A
c.376G>A (p.Glu126Lys)
c.60G>A (p.Arg20=)
n.508G>A
 gnomAD v4
17g.28734822G>CCA398424041NEK8c.304G>C (p.Glu102Gln)
c.187G>C (p.Glu63Gln)
n.341G>C
n.302G>C
c.376G>C (p.Glu126Gln)
c.60G>C (p.Arg20Ser)
n.508G>C
 gnomAD v4
17g.28734822G>TCA398424038NEK8c.304G>T (p.Glu102Ter)
c.187G>T (p.Glu63Ter)
n.341G>T
n.302G>T
c.376G>T (p.Glu126Ter)
c.60G>T (p.Arg20Ser)
n.508G>T
 gnomAD v4
17g.28734823A>CCA398424052NEK8c.305A>C (p.Glu102Ala)
c.188A>C (p.Glu63Ala)
n.342A>C
n.303A>C
c.377A>C (p.Glu126Ala)
c.61A>C (p.Arg21=)
n.509A>C
17g.28734823A>GCA398424053NEK8c.305A>G (p.Glu102Gly)
c.188A>G (p.Glu63Gly)
n.342A>G
n.303A>G
c.377A>G (p.Glu126Gly)
c.61A>G (p.Arg21Gly)
n.509A>G
 gnomAD v4
17g.28734823A>TCA398424056NEK8c.305A>T (p.Glu102Val)
c.188A>T (p.Glu63Val)
n.342A>T
n.303A>T
c.377A>T (p.Glu126Val)
c.61A>T (p.Arg21Trp)
n.509A>T
17g.28734824G>ACA499416998NEK8c.306G>A (p.Glu102=)
c.189G>A (p.Glu63=)
n.343G>A
n.304G>A
c.378G>A (p.Glu126=)
c.62G>A (p.Arg21Lys)
n.510G>A
17g.28734824G>CCA398424060NEK8c.306G>C (p.Glu102Asp)
c.189G>C (p.Glu63Asp)
n.343G>C
n.304G>C
c.378G>C (p.Glu126Asp)
c.62G>C (p.Arg21Thr)
n.510G>C
17g.28734824G>TCA398424062NEK8c.306G>T (p.Glu102Asp)
c.189G>T (p.Glu63Asp)
n.343G>T
n.304G>T
c.378G>T (p.Glu126Asp)
c.62G>T (p.Arg21Met)
n.510G>T
17g.28734825G>ACA398424066NEK8c.307G>A (p.Glu103Lys)
c.190G>A (p.Glu64Lys)
n.344G>A
n.305G>A
c.379G>A (p.Glu127Lys)
c.63G>A (p.Arg21=)
n.511G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.28734825G>CCA398424070NEK8c.307G>C (p.Glu103Gln)
c.190G>C (p.Glu64Gln)
n.344G>C
n.305G>C
c.379G>C (p.Glu127Gln)
c.63G>C (p.Arg21Ser)
n.511G>C
17g.28734825G=CA2254442029NEK8c.307G= (p.Glu103=)
c.190G= (p.Glu64=)
n.344G=
n.305G=
c.379G= (p.Glu127=)
c.63G= (p.Arg21=)
n.511G=
17g.28734825G>TCA398424071NEK8c.307G>T (p.Glu103Ter)
c.190G>T (p.Glu64Ter)
n.344G>T
n.305G>T
c.379G>T (p.Glu127Ter)
c.63G>T (p.Arg21Ser)
n.511G>T
17g.28734826A>CCA398424073NEK8c.308A>C (p.Glu103Ala)
c.191A>C (p.Glu64Ala)
n.345A>C
n.306A>C
c.380A>C (p.Glu127Ala)
c.64A>C (p.Arg22=)
n.512A>C
17g.28734826A>GCA398424076NEK8c.308A>G (p.Glu103Gly)
c.191A>G (p.Glu64Gly)
n.345A>G
n.306A>G
c.380A>G (p.Glu127Gly)
c.64A>G (p.Arg22Gly)
n.512A>G
 gnomAD v4
17g.28734826A>TCA398424078NEK8c.308A>T (p.Glu103Val)
c.191A>T (p.Glu64Val)
n.345A>T
n.306A>T
c.380A>T (p.Glu127Val)
c.64A>T (p.Arg22Ter)
n.512A>T
17g.28734827G>ACA8467061NEK8c.309G>A (p.Glu103=)
c.192G>A (p.Glu64=)
n.346G>A
n.307G>A
c.381G>A (p.Glu127=)
c.65G>A (p.Arg22Lys)
n.513G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.28734827G>CCA398424081NEK8c.309G>C (p.Glu103Asp)
c.192G>C (p.Glu64Asp)
n.346G>C
n.307G>C
c.381G>C (p.Glu127Asp)
c.65G>C (p.Arg22Thr)
n.513G>C
 dbSNP gnomAD v2
17g.28734827G=CA2254442030NEK8c.309G= (p.Glu103=)
c.192G= (p.Glu64=)
n.346G=
n.307G=
c.381G= (p.Glu127=)
c.65G= (p.Arg22=)
n.513G=
17g.28734827G>TCA398424084NEK8c.309G>T (p.Glu103Asp)
c.192G>T (p.Glu64Asp)
n.346G>T
n.307G>T
c.381G>T (p.Glu127Asp)
c.65G>T (p.Arg22Ile)
n.513G>T
 dbSNP gnomAD v4
17g.28734828delCA2636884610NEK8c.310del (p.Thr104ProfsTer?)
c.193del (p.Thr65ProfsTer?)
n.347del
n.308del
c.382del (p.Thr128ProfsTer?)
c.66del (p.Arg22SerfsTer?)
n.514del
 gnomAD v4
17g.28734828A>CCA398424088NEK8c.310A>C (p.Thr104Pro)
c.193A>C (p.Thr65Pro)
n.347A>C
n.308A>C
c.382A>C (p.Thr128Pro)
c.66A>C (p.Arg22Ser)
n.514A>C
17g.28734828A>GCA398424092NEK8c.310A>G (p.Thr104Ala)
c.193A>G (p.Thr65Ala)
n.347A>G
n.308A>G
c.382A>G (p.Thr128Ala)
c.66A>G (p.Arg22=)
n.514A>G
17g.28734828A>TCA398424086NEK8c.310A>T (p.Thr104Ser)
c.193A>T (p.Thr65Ser)
n.347A>T
n.308A>T
c.382A>T (p.Thr128Ser)
c.66A>T (p.Arg22Ser)
n.514A>T
17g.28734829C>ACA398424098NEK8c.311C>A (p.Thr104Asn)
c.194C>A (p.Thr65Asn)
n.348C>A
n.309C>A
c.383C>A (p.Thr128Asn)
c.67C>A (p.Pro23Thr)
n.515C>A
17g.28734829C>GCA398424101NEK8c.311C>G (p.Thr104Ser)
c.194C>G (p.Thr65Ser)
n.348C>G
n.309C>G
c.383C>G (p.Thr128Ser)
c.67C>G (p.Pro23Ala)
n.515C>G
17g.28734829C>TCA398424103NEK8c.311C>T (p.Thr104Ile)
c.194C>T (p.Thr65Ile)
n.348C>T
n.309C>T
c.383C>T (p.Thr128Ile)
c.67C>T (p.Pro23Ser)
n.515C>T
 gnomAD v4
17g.28734830C>ACA8467062NEK8c.312C>A (p.Thr104=)
c.195C>A (p.Thr65=)
n.349C>A
n.310C>A
c.384C>A (p.Thr128=)
c.68C>A (p.Pro23Gln)
n.516C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28734830C=CA2254442031NEK8c.312C= (p.Thr104=)
c.195C= (p.Thr65=)
n.349C=
n.310C=
c.384C= (p.Thr128=)
c.68C= (p.Pro23=)
n.516C=
17g.28734830C>GCA499416999NEK8c.312C>G (p.Thr104=)
c.195C>G (p.Thr65=)
n.349C>G
n.310C>G
c.384C>G (p.Thr128=)
c.68C>G (p.Pro23Arg)
n.516C>G
17g.28734830C>TCA499417000NEK8c.312C>T (p.Thr104=)
c.195C>T (p.Thr65=)
n.349C>T
n.310C>T
c.384C>T (p.Thr128=)
c.68C>T (p.Pro23Leu)
n.516C>T
 gnomAD v4
17g.28734831_28734833delCA2636884613NEK8c.313_315del (p.Ile105del)
c.196_198del (p.Ile66del)
n.350_352del
n.311_313del
c.385_387del (p.Ile129del)
c.69_71del (p.Ser24del)
n.517_519del
 gnomAD v4
17g.28734831A=CA2254442032NEK8c.313A= (p.Ile105=)
c.196A= (p.Ile66=)
n.350A=
n.311A=
c.385A= (p.Ile129=)
c.69A= (p.Pro23=)
n.517A=
17g.28734831A>CCA398424114NEK8c.313A>C (p.Ile105Leu)
c.196A>C (p.Ile66Leu)
n.350A>C
n.311A>C
c.385A>C (p.Ile129Leu)
c.69A>C (p.Pro23=)
n.517A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.28734831A>GCA8467063NEK8c.313A>G (p.Ile105Val)
c.196A>G (p.Ile66Val)
n.350A>G
n.311A>G
c.385A>G (p.Ile129Val)
c.69A>G (p.Pro23=)
n.517A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.28734831A>TCA398424120NEK8c.313A>T (p.Ile105Phe)
c.196A>T (p.Ile66Phe)
n.350A>T
n.311A>T
c.385A>T (p.Ile129Phe)
c.69A>T (p.Pro23=)
n.517A>T
17g.28734832T>ACA398424125NEK8c.314T>A (p.Ile105Asn)
c.197T>A (p.Ile66Asn)
n.351T>A
n.312T>A
c.386T>A (p.Ile129Asn)
c.70T>A (p.Ser24Thr)
n.518T>A
17g.28734832T>CCA398424132NEK8c.314T>C (p.Ile105Thr)
c.197T>C (p.Ile66Thr)
n.351T>C
n.312T>C
c.386T>C (p.Ile129Thr)
c.70T>C (p.Ser24Pro)
n.518T>C
17g.28734832T>GCA398424129NEK8c.314T>G (p.Ile105Ser)
c.197T>G (p.Ile66Ser)
n.351T>G
n.312T>G
c.386T>G (p.Ile129Ser)
c.70T>G (p.Ser24Ala)
n.518T>G
17g.28734833C>ACA499417001NEK8c.315C>A (p.Ile105=)
c.198C>A (p.Ile66=)
n.352C>A
n.313C>A
c.387C>A (p.Ile129=)
c.71C>A (p.Ser24Tyr)
n.519C>A
 gnomAD v4
17g.28734833C>GCA398424140NEK8c.315C>G (p.Ile105Met)
c.198C>G (p.Ile66Met)
n.352C>G
n.313C>G
c.387C>G (p.Ile129Met)
c.71C>G (p.Ser24Cys)
n.519C>G
17g.28734833C>TCA499417002NEK8c.315C>T (p.Ile105=)
c.198C>T (p.Ile66=)
n.352C>T
n.313C>T
c.387C>T (p.Ile129=)
c.71C>T (p.Ser24Phe)
n.519C>T
17g.28734834C>ACA398424145NEK8c.316C>A (p.Leu106Met)
c.199C>A (p.Leu67Met)
n.353C>A
n.314C>A
c.388C>A (p.Leu130Met)
c.72C>A (p.Ser24=)
n.520C>A
 gnomAD v4
17g.28734834C=CA2254442033NEK8c.316C= (p.Leu106=)
c.199C= (p.Leu67=)
n.353C=
n.314C=
c.388C= (p.Leu130=)
c.72C= (p.Ser24=)
n.520C=
17g.28734834C>GCA398424149NEK8c.316C>G (p.Leu106Val)
c.199C>G (p.Leu67Val)
n.353C>G
n.314C>G
c.388C>G (p.Leu130Val)
c.72C>G (p.Ser24=)
n.520C>G
17g.28734834C>TCA8467064NEK8c.316C>T (p.Leu106=)
c.199C>T (p.Leu67=)
n.353C>T
n.314C>T
c.388C>T (p.Leu130=)
c.72C>T (p.Ser24=)
n.520C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28734835T>ACA398424160NEK8c.317T>A (p.Leu106Gln)
c.200T>A (p.Leu67Gln)
n.354T>A
n.315T>A
c.389T>A (p.Leu130Gln)
c.73T>A (p.Cys25Ser)
n.521T>A
17g.28734835T>CCA398424168NEK8c.317T>C (p.Leu106Pro)
c.200T>C (p.Leu67Pro)
n.354T>C
n.315T>C
c.389T>C (p.Leu130Pro)
c.73T>C (p.Cys25Arg)
n.521T>C
17g.28734835T>GCA398424163NEK8c.317T>G (p.Leu106Arg)
c.200T>G (p.Leu67Arg)
n.354T>G
n.315T>G
c.389T>G (p.Leu130Arg)
c.73T>G (p.Cys25Gly)
n.521T>G
17g.28734836G>ACA499417003NEK8c.318G>A (p.Leu106=)
c.201G>A (p.Leu67=)
n.355G>A
n.316G>A
c.390G>A (p.Leu130=)
c.74G>A (p.Cys25Tyr)
n.522G>A
17g.28734836G>CCA499417004NEK8c.318G>C (p.Leu106=)
c.201G>C (p.Leu67=)
n.355G>C
n.316G>C
c.390G>C (p.Leu130=)
c.74G>C (p.Cys25Ser)
n.522G>C
17g.28734836G=CA2254442034NEK8c.318G= (p.Leu106=)
c.201G= (p.Leu67=)
n.355G=
n.316G=
c.390G= (p.Leu130=)
c.74G= (p.Cys25=)
n.522G=
17g.28734836G>TCA8467065NEK8c.318G>T (p.Leu106=)
c.201G>T (p.Leu67=)
n.355G>T
n.316G>T
c.390G>T (p.Leu130=)
c.74G>T (p.Cys25Phe)
n.522G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.28734837C>ACA398424175NEK8c.319C>A (p.His107Asn)
c.202C>A (p.His68Asn)
n.356C>A
n.317C>A
c.391C>A (p.His131Asn)
c.75C>A (p.Cys25Ter)
n.523C>A
17g.28734837C=CA2254442035NEK8c.319C= (p.His107=)
c.202C= (p.His68=)
n.356C=
n.317C=
c.391C= (p.His131=)
c.75C= (p.Cys25=)
n.523C=
17g.28734837C>GCA398424180NEK8c.319C>G (p.His107Asp)
c.202C>G (p.His68Asp)
n.356C>G
n.317C>G
c.391C>G (p.His131Asp)
c.75C>G (p.Cys25Trp)
n.523C>G
17g.28734837C>TCA398424183NEK8c.319C>T (p.His107Tyr)
c.202C>T (p.His68Tyr)
n.356C>T
n.317C>T
c.391C>T (p.His131Tyr)
c.75C>T (p.Cys25=)
n.523C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.28734838A>CCA398424190NEK8c.320A>C (p.His107Pro)
c.203A>C (p.His68Pro)
n.357A>C
n.318A>C
c.392A>C (p.His131Pro)
c.76A>C (p.Thr26Pro)
n.524A>C
17g.28734838A>GCA398424193NEK8c.320A>G (p.His107Arg)
c.203A>G (p.His68Arg)
n.357A>G
n.318A>G
c.392A>G (p.His131Arg)
c.76A>G (p.Thr26Ala)
n.524A>G
17g.28734838A>TCA398424199NEK8c.320A>T (p.His107Leu)
c.203A>T (p.His68Leu)
n.357A>T
n.318A>T
c.392A>T (p.His131Leu)
c.76A>T (p.Thr26Ser)
n.524A>T
17g.28734838_28734841delinsACTTCA2254442036NEK8c.320_323delinsACTT (p.His107=)
c.203_206delinsACTT (p.His68=)
n.357_360delinsACTT
n.318_321delinsACTT
c.392_395delinsACTT (p.His131=)
c.76_79delinsACTT (p.Thr26=)
n.524_527delinsACTT
17g.28734839C>ACA398424205NEK8c.321C>A (p.His107Gln)
c.204C>A (p.His68Gln)
n.358C>A
n.319C>A
c.393C>A (p.His131Gln)
c.77C>A (p.Thr26Asn)
n.525C>A
 gnomAD v4
17g.28734839C=CA2254442037NEK8c.321C= (p.His107=)
c.204C= (p.His68=)
n.358C=
n.319C=
c.393C= (p.His131=)
c.77C= (p.Thr26=)
n.525C=
17g.28734839C>GCA398424208NEK8c.321C>G (p.His107Gln)
c.204C>G (p.His68Gln)
n.358C>G
n.319C>G
c.393C>G (p.His131Gln)
c.77C>G (p.Thr26Ser)
n.525C>G
17g.28734839C>TCA499417005NEK8c.321C>T (p.His107=)
c.204C>T (p.His68=)
n.358C>T
n.319C>T
c.393C>T (p.His131=)
c.77C>T (p.Thr26Ile)
n.525C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.28734843_28734845delCA8467066NEK8c.325_327del (p.Phe109del)
c.208_210del (p.Phe70del)
n.362_364del
n.323_325del
c.397_399del (p.Phe133del)
c.81_83del (p.Ser28del)
n.529_531del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28734840T>ACA398424235NEK8c.322T>A (p.Phe108Ile)
c.205T>A (p.Phe69Ile)
n.359T>A
n.320T>A
c.394T>A (p.Phe132Ile)
c.78T>A (p.Thr26=)
n.526T>A
 gnomAD v4
17g.28734840T>CCA398424233NEK8c.322T>C (p.Phe108Leu)
c.205T>C (p.Phe69Leu)
n.359T>C
n.320T>C
c.394T>C (p.Phe132Leu)
c.78T>C (p.Thr26=)
n.526T>C
17g.28734840T>GCA398424230NEK8c.322T>G (p.Phe108Val)
c.205T>G (p.Phe69Val)
n.359T>G
n.320T>G
c.394T>G (p.Phe132Val)
c.78T>G (p.Thr26=)
n.526T>G
17g.28734841T>ACA398424239NEK8c.323T>A (p.Phe108Tyr)
c.206T>A (p.Phe69Tyr)
n.360T>A
n.321T>A
c.395T>A (p.Phe132Tyr)
c.79T>A (p.Ser27Thr)
n.527T>A
17g.28734841T>CCA398424262NEK8c.323T>C (p.Phe108Ser)
c.206T>C (p.Phe69Ser)
n.360T>C
n.321T>C
c.395T>C (p.Phe132Ser)
c.79T>C (p.Ser27Pro)
n.527T>C
17g.28734841T>GCA398424243NEK8c.323T>G (p.Phe108Cys)
c.206T>G (p.Phe69Cys)
n.360T>G
n.321T>G
c.395T>G (p.Phe132Cys)
c.79T>G (p.Ser27Ala)
n.527T>G
17g.28734842C>ACA398424265NEK8c.324C>A (p.Phe108Leu)
c.207C>A (p.Phe69Leu)
n.361C>A
n.322C>A
c.396C>A (p.Phe132Leu)
c.80C>A (p.Ser27Tyr)
n.528C>A
 gnomAD v4
17g.28734842C>GCA398424270NEK8c.324C>G (p.Phe108Leu)
c.207C>G (p.Phe69Leu)
n.361C>G
n.322C>G
c.396C>G (p.Phe132Leu)
c.80C>G (p.Ser27Cys)
n.528C>G
17g.28734842C>TCA499417006NEK8c.324C>T (p.Phe108=)
c.207C>T (p.Phe69=)
n.361C>T
n.322C>T
c.396C>T (p.Phe132=)
c.80C>T (p.Ser27Phe)
n.528C>T
17g.28734843T>ACA398424274NEK8c.325T>A (p.Phe109Ile)
c.208T>A (p.Phe70Ile)
n.362T>A
n.323T>A
c.397T>A (p.Phe133Ile)
c.81T>A (p.Ser27=)
n.529T>A
17g.28734843T>CCA398424277NEK8c.325T>C (p.Phe109Leu)
c.208T>C (p.Phe70Leu)
n.362T>C
n.323T>C
c.397T>C (p.Phe133Leu)
c.81T>C (p.Ser27=)
n.529T>C
17g.28734843T>GCA398424281NEK8c.325T>G (p.Phe109Val)
c.208T>G (p.Phe70Val)
n.362T>G
n.323T>G
c.397T>G (p.Phe133Val)
c.81T>G (p.Ser27=)
n.529T>G
17g.28734844T>ACA398424289NEK8c.326T>A (p.Phe109Tyr)
c.209T>A (p.Phe70Tyr)
n.363T>A
n.324T>A
c.398T>A (p.Phe133Tyr)
c.82T>A (p.Ser28Thr)
n.530T>A
17g.28734844T>CCA398424291NEK8c.326T>C (p.Phe109Ser)
c.209T>C (p.Phe70Ser)
n.363T>C
n.324T>C
c.398T>C (p.Phe133Ser)
c.82T>C (p.Ser28Pro)
n.530T>C
17g.28734844T>GCA398424294NEK8c.326T>G (p.Phe109Cys)
c.209T>G (p.Phe70Cys)
n.363T>G
n.324T>G
c.398T>G (p.Phe133Cys)
c.82T>G (p.Ser28Ala)
n.530T>G
17g.28734845C>ACA398424299NEK8c.327C>A (p.Phe109Leu)
c.210C>A (p.Phe70Leu)
n.364C>A
n.325C>A
c.399C>A (p.Phe133Leu)
c.83C>A (p.Ser28Ter)
n.531C>A
 dbSNP
17g.28734845C=CA2254442038NEK8c.327C= (p.Phe109=)
c.210C= (p.Phe70=)
n.364C=
n.325C=
c.399C= (p.Phe133=)
c.83C= (p.Ser28=)
n.531C=
17g.28734845C>GCA398424310NEK8c.327C>G (p.Phe109Leu)
c.210C>G (p.Phe70Leu)
n.364C>G
n.325C>G
c.399C>G (p.Phe133Leu)
c.83C>G (p.Ser28Trp)
n.531C>G
17g.28734845C>TCA8467067NEK8c.327C>T (p.Phe109=)
c.210C>T (p.Phe70=)
n.364C>T
n.325C>T
c.399C>T (p.Phe133=)
c.83C>T (p.Ser28Leu)
n.531C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28734846G>ACA289148588NEK8c.328G>A (p.Val110Met)
c.211G>A (p.Val71Met)
n.365G>A
n.326G>A
c.400G>A (p.Val134Met)
c.84G>A (p.Ser28=)
n.532G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.28734846G>CCA398424318NEK8c.328G>C (p.Val110Leu)
c.211G>C (p.Val71Leu)
n.365G>C
n.326G>C
c.400G>C (p.Val134Leu)
c.84G>C (p.Ser28=)
n.532G>C
17g.28734846G=CA2254442039NEK8c.328G= (p.Val110=)
c.211G= (p.Val71=)
n.365G=
n.326G=
c.400G= (p.Val134=)
c.84G= (p.Ser28=)
n.532G=
17g.28734846G>TCA398424324NEK8c.328G>T (p.Val110Leu)
c.211G>T (p.Val71Leu)
n.365G>T
n.326G>T
c.400G>T (p.Val134Leu)
c.84G>T (p.Ser28=)
n.532G>T
 dbSNP
17g.28734847T>ACA398424335NEK8c.329T>A (p.Val110Glu)
c.212T>A (p.Val71Glu)
n.366T>A
n.327T>A
c.401T>A (p.Val134Glu)
c.85T>A (p.Cys29Ser)
n.533T>A
17g.28734847T>CCA398424338NEK8c.329T>C (p.Val110Ala)
c.212T>C (p.Val71Ala)
n.366T>C
n.327T>C
c.401T>C (p.Val134Ala)
c.85T>C (p.Cys29Arg)
n.533T>C
17g.28734847T>GCA398424345NEK8c.329T>G (p.Val110Gly)
c.212T>G (p.Val71Gly)
n.366T>G
n.327T>G
c.401T>G (p.Val134Gly)
c.85T>G (p.Cys29Gly)
n.533T>G
17g.28734848G>ACA499417007NEK8c.330G>A (p.Val110=)
c.213G>A (p.Val71=)
n.367G>A
n.328G>A
c.402G>A (p.Val134=)
c.86G>A (p.Cys29Tyr)
n.534G>A
17g.28734848G>CCA499417009NEK8c.330G>C (p.Val110=)
c.213G>C (p.Val71=)
n.367G>C
n.328G>C
c.402G>C (p.Val134=)
c.86G>C (p.Cys29Ser)
n.534G>C
17g.28734848G>TCA499417008NEK8c.330G>T (p.Val110=)
c.213G>T (p.Val71=)
n.367G>T
n.328G>T
c.402G>T (p.Val134=)
c.86G>T (p.Cys29Phe)
n.534G>T
17g.28734849C>ACA398424349NEK8c.331C>A (p.Gln111Lys)
c.214C>A (p.Gln72Lys)
n.368C>A
n.329C>A
c.403C>A (p.Gln135Lys)
c.87C>A (p.Cys29Ter)
n.535C>A
17g.28734849C>GCA398424352NEK8c.331C>G (p.Gln111Glu)
c.214C>G (p.Gln72Glu)
n.368C>G
n.329C>G
c.403C>G (p.Gln135Glu)
c.87C>G (p.Cys29Trp)
n.535C>G
17g.28734849C>TCA398424358NEK8c.331C>T (p.Gln111Ter)
c.214C>T (p.Gln72Ter)
n.368C>T
n.329C>T
c.403C>T (p.Gln135Ter)
c.87C>T (p.Cys29=)
n.535C>T
17g.28734850A>CCA398424362NEK8c.332A>C (p.Gln111Pro)
c.215A>C (p.Gln72Pro)
n.369A>C
n.330A>C
c.404A>C (p.Gln135Pro)
c.88A>C (p.Arg30=)
n.536A>C
17g.28734850A>GCA398424364NEK8c.332A>G (p.Gln111Arg)
c.215A>G (p.Gln72Arg)
n.369A>G
n.330A>G
c.404A>G (p.Gln135Arg)
c.88A>G (p.Arg30Gly)
n.536A>G
17g.28734850A>TCA398424366NEK8c.332A>T (p.Gln111Leu)
c.215A>T (p.Gln72Leu)
n.369A>T
n.330A>T
c.404A>T (p.Gln135Leu)
c.88A>T (p.Arg30Ter)
n.536A>T
17g.28734851G>ACA499417010NEK8c.333G>A (p.Gln111=)
c.216G>A (p.Gln72=)
n.370G>A
n.331G>A
c.405G>A (p.Gln135=)
c.89G>A (p.Arg30Lys)
n.537G>A
 gnomAD v4
17g.28734851G>CCA398424370NEK8c.333G>C (p.Gln111His)
c.216G>C (p.Gln72His)
n.370G>C
n.331G>C
c.405G>C (p.Gln135His)
c.89G>C (p.Arg30Thr)
n.537G>C
17g.28734851G>TCA398424374NEK8c.333G>T (p.Gln111His)
c.216G>T (p.Gln72His)
n.370G>T
n.331G>T
c.405G>T (p.Gln135His)
c.89G>T (p.Arg30Ile)
n.537G>T
 gnomAD v4
17g.28734852A=CA2254442040NEK8c.334A= (p.Ile112=)
c.217A= (p.Ile73=)
n.371A=
n.332A=
c.406A= (p.Ile136=)
c.90A= (p.Arg30=)
n.538A=
17g.28734852A>CCA398424384NEK8c.334A>C (p.Ile112Leu)
c.217A>C (p.Ile73Leu)
n.371A>C
n.332A>C
c.406A>C (p.Ile136Leu)
c.90A>C (p.Arg30Ser)
n.538A>C
17g.28734852A>GCA289148594NEK8c.334A>G (p.Ile112Val)
c.217A>G (p.Ile73Val)
n.371A>G
n.332A>G
c.406A>G (p.Ile136Val)
c.90A>G (p.Arg30=)
n.538A>G
 dbSNP
17g.28734852A>TCA398424382NEK8c.334A>T (p.Ile112Phe)
c.217A>T (p.Ile73Phe)
n.371A>T
n.332A>T
c.406A>T (p.Ile136Phe)
c.90A>T (p.Arg30Ser)
n.538A>T
17g.28734853T>ACA398424390NEK8c.335T>A (p.Ile112Asn)
c.218T>A (p.Ile73Asn)
n.372T>A
n.333T>A
c.407T>A (p.Ile136Asn)
c.91T>A (p.Ser31Thr)
n.539T>A
17g.28734853T>CCA398424393NEK8c.335T>C (p.Ile112Thr)
c.218T>C (p.Ile73Thr)
n.372T>C
n.333T>C
c.407T>C (p.Ile136Thr)
c.91T>C (p.Ser31Pro)
n.539T>C
 dbSNP gnomAD v2 gnomAD v4
17g.28734853T>GCA398424396NEK8c.335T>G (p.Ile112Ser)
c.218T>G (p.Ile73Ser)
n.372T>G
n.333T>G
c.407T>G (p.Ile136Ser)
c.91T>G (p.Ser31Ala)
n.539T>G
17g.28734853T=CA2254442041NEK8c.335T= (p.Ile112=)
c.218T= (p.Ile73=)
n.372T=
n.333T=
c.407T= (p.Ile136=)
c.91T= (p.Ser31=)
n.539T=
17g.28734854C>ACA499417011NEK8c.336C>A (p.Ile112=)
c.219C>A (p.Ile73=)
n.373C>A
n.334C>A
c.408C>A (p.Ile136=)
c.92C>A (p.Ser31Tyr)
n.540C>A
17g.28734854C>GCA398424400NEK8c.336C>G (p.Ile112Met)
c.219C>G (p.Ile73Met)
n.373C>G
n.334C>G
c.408C>G (p.Ile136Met)
c.92C>G (p.Ser31Cys)
n.540C>G
17g.28734854C>TCA499417012NEK8c.336C>T (p.Ile112=)
c.219C>T (p.Ile73=)
n.373C>T
n.334C>T
c.408C>T (p.Ile136=)
c.92C>T (p.Ser31Phe)
n.540C>T
17g.28734855C>ACA398424413NEK8c.337C>A (p.Leu113Met)
c.220C>A (p.Leu74Met)
n.374C>A
n.335C>A
c.409C>A (p.Leu137Met)
c.93C>A (p.Ser31=)
n.541C>A
17g.28734855C>GCA398424417NEK8c.337C>G (p.Leu113Val)
c.220C>G (p.Leu74Val)
n.374C>G
n.335C>G
c.409C>G (p.Leu137Val)
c.93C>G (p.Ser31=)
n.541C>G
17g.28734855C>TCA499417013NEK8c.337C>T (p.Leu113=)
c.220C>T (p.Leu74=)
n.374C>T
n.335C>T
c.409C>T (p.Leu137=)
c.93C>T (p.Ser31=)
n.541C>T
17g.28734856T>ACA398424420NEK8c.338T>A (p.Leu113Gln)
c.221T>A (p.Leu74Gln)
n.375T>A
n.336T>A
c.410T>A (p.Leu137Gln)
c.94T>A (p.Cys32Ser)
n.542T>A
17g.28734856T>CCA398424423NEK8c.338T>C (p.Leu113Pro)
c.221T>C (p.Leu74Pro)
n.375T>C
n.336T>C
c.410T>C (p.Leu137Pro)
c.94T>C (p.Cys32Arg)
n.542T>C
17g.28734856T>GCA398424426NEK8c.338T>G (p.Leu113Arg)
c.221T>G (p.Leu74Arg)
n.375T>G
n.336T>G
c.410T>G (p.Leu137Arg)
c.94T>G (p.Cys32Gly)
n.542T>G
17g.28734857G>ACA499417014NEK8c.339G>A (p.Leu113=)
c.222G>A (p.Leu74=)
n.376G>A
n.337G>A
c.411G>A (p.Leu137=)
c.95G>A (p.Cys32Tyr)
n.543G>A
17g.28734857G>CCA499417015NEK8c.339G>C (p.Leu113=)
c.222G>C (p.Leu74=)
n.376G>C
n.337G>C
c.411G>C (p.Leu137=)
c.95G>C (p.Cys32Ser)
n.543G>C
 ClinVar dbSNP
17g.28734857G=CA2254442042NEK8c.339G= (p.Leu113=)
c.222G= (p.Leu74=)
n.376G=
n.337G=
c.411G= (p.Leu137=)
c.95G= (p.Cys32=)
n.543G=
17g.28734857G>TCA499417016NEK8c.339G>T (p.Leu113=)
c.222G>T (p.Leu74=)
n.376G>T
n.337G>T
c.411G>T (p.Leu137=)
c.95G>T (p.Cys32Phe)
n.543G>T
17g.28734858C>ACA398424434NEK8c.340C>A (p.Leu114Ile)
c.223C>A (p.Leu75Ile)
n.377C>A
n.338C>A
c.412C>A (p.Leu138Ile)
c.96C>A (p.Cys32Ter)
n.544C>A
17g.28734858C>GCA398424441NEK8c.340C>G (p.Leu114Val)
c.223C>G (p.Leu75Val)
n.377C>G
n.338C>G
c.412C>G (p.Leu138Val)
c.96C>G (p.Cys32Trp)
n.544C>G
17g.28734858C>TCA398424444NEK8c.340C>T (p.Leu114Phe)
c.223C>T (p.Leu75Phe)
n.377C>T
n.338C>T
c.412C>T (p.Leu138Phe)
c.96C>T (p.Cys32=)
n.544C>T
 gnomAD v4
17g.28734859T>ACA398424450NEK8c.341T>A (p.Leu114His)
c.224T>A (p.Leu75His)
n.378T>A
n.339T>A
c.413T>A (p.Leu138His)
c.97T>A (p.Leu33Met)
n.545T>A
17g.28734859T>CCA398424453NEK8c.341T>C (p.Leu114Pro)
c.224T>C (p.Leu75Pro)
n.378T>C
n.339T>C
c.413T>C (p.Leu138Pro)
c.97T>C (p.Leu33=)
n.545T>C
17g.28734859T>GCA398424447NEK8c.341T>G (p.Leu114Arg)
c.224T>G (p.Leu75Arg)
n.378T>G
n.339T>G
c.413T>G (p.Leu138Arg)
c.97T>G (p.Leu33Val)
n.545T>G
17g.28734860T>ACA499417017NEK8c.342T>A (p.Leu114=)
c.225T>A (p.Leu75=)
n.379T>A
n.340T>A
c.414T>A (p.Leu138=)
c.98T>A (p.Leu33Ter)
n.546T>A
17g.28734860T>CCA499417018NEK8c.342T>C (p.Leu114=)
c.225T>C (p.Leu75=)
n.379T>C
n.340T>C
c.414T>C (p.Leu138=)
c.98T>C (p.Leu33Ser)
n.546T>C
17g.28734860T>GCA499417019NEK8c.342T>G (p.Leu114=)
c.225T>G (p.Leu75=)
n.379T>G
n.340T>G
c.414T>G (p.Leu138=)
c.98T>G (p.Leu33Trp)
n.546T>G
17g.28734861G>ACA398424456NEK8c.343G>A (p.Ala115Thr)
c.226G>A (p.Ala76Thr)
n.380G>A
n.341G>A
c.415G>A (p.Ala139Thr)
c.99G>A (p.Leu33=)
n.547G>A
17g.28734861G>CCA398424460NEK8c.343G>C (p.Ala115Pro)
c.226G>C (p.Ala76Pro)
n.380G>C
n.341G>C
c.415G>C (p.Ala139Pro)
c.99G>C (p.Leu33Phe)
n.547G>C
17g.28734861G>TCA398424463NEK8c.343G>T (p.Ala115Ser)
c.226G>T (p.Ala76Ser)
n.380G>T
n.341G>T
c.415G>T (p.Ala139Ser)
c.99G>T (p.Leu33Phe)
n.547G>T
17g.28734862C>ACA398424468NEK8c.344C>A (p.Ala115Glu)
c.227C>A (p.Ala76Glu)
n.381C>A
n.342C>A
c.416C>A (p.Ala139Glu)
c.100C>A (p.His34Asn)
n.548C>A
17g.28734862C>GCA398424473NEK8c.344C>G (p.Ala115Gly)
c.227C>G (p.Ala76Gly)
n.381C>G
n.342C>G
c.416C>G (p.Ala139Gly)
c.100C>G (p.His34Asp)
n.548C>G
17g.28734862C>TCA398424477NEK8c.344C>T (p.Ala115Val)
c.227C>T (p.Ala76Val)
n.381C>T
n.342C>T
c.416C>T (p.Ala139Val)
c.100C>T (p.His34Tyr)
n.548C>T
17g.28734863A=CA2254442043NEK8c.345A= (p.Ala115=)
c.228A= (p.Ala76=)
n.382A=
n.343A=
c.417A= (p.Ala139=)
c.101A= (p.His34=)
n.549A=
17g.28734863A>CCA499417020NEK8c.345A>C (p.Ala115=)
c.228A>C (p.Ala76=)
n.382A>C
n.343A>C
c.417A>C (p.Ala139=)
c.101A>C (p.His34Pro)
n.549A>C
17g.28734863A>GCA499417022NEK8c.345A>G (p.Ala115=)
c.228A>G (p.Ala76=)
n.382A>G
n.343A>G
c.417A>G (p.Ala139=)
c.101A>G (p.His34Arg)
n.549A>G
 dbSNP gnomAD v4
17g.28734863A>TCA499417021NEK8c.345A>T (p.Ala115=)
c.228A>T (p.Ala76=)
n.382A>T
n.343A>T
c.417A>T (p.Ala139=)
c.101A>T (p.His34Leu)
n.549A>T
17g.28734864C>ACA398424484NEK8c.346C>A (p.Leu116Met)
c.229C>A (p.Leu77Met)
n.383C>A
n.344C>A
c.418C>A (p.Leu140Met)
c.102C>A (p.His34Gln)
n.550C>A
17g.28734864C=CA2254442044NEK8c.346C= (p.Leu116=)
c.229C= (p.Leu77=)
n.383C=
n.344C=
c.418C= (p.Leu140=)
c.102C= (p.His34=)
n.550C=
17g.28734864C>GCA398424480NEK8c.346C>G (p.Leu116Val)
c.229C>G (p.Leu77Val)
n.383C>G
n.344C>G
c.418C>G (p.Leu140Val)
c.102C>G (p.His34Gln)
n.550C>G
 dbSNP gnomAD v3 gnomAD v4
17g.28734864C>TCA499417023NEK8c.346C>T (p.Leu116=)
c.229C>T (p.Leu77=)
n.383C>T
n.344C>T
c.418C>T (p.Leu140=)
c.102C>T (p.His34=)
n.550C>T
 dbSNP
17g.28734865T>ACA398424488NEK8c.347T>A (p.Leu116Gln)
c.230T>A (p.Leu77Gln)
n.384T>A
n.345T>A
c.419T>A (p.Leu140Gln)
c.103T>A (p.Cys35Ser)
n.551T>A
17g.28734865T>CCA398424497NEK8c.347T>C (p.Leu116Pro)
c.230T>C (p.Leu77Pro)
n.384T>C
n.345T>C
c.419T>C (p.Leu140Pro)
c.103T>C (p.Cys35Arg)
n.551T>C
17g.28734865T>GCA398424499NEK8c.347T>G (p.Leu116Arg)
c.230T>G (p.Leu77Arg)
n.384T>G
n.345T>G
c.419T>G (p.Leu140Arg)
c.103T>G (p.Cys35Gly)
n.551T>G
17g.28734866G>ACA499417026NEK8c.348G>A (p.Leu116=)
c.231G>A (p.Leu77=)
n.385G>A
n.346G>A
c.420G>A (p.Leu140=)
c.104G>A (p.Cys35Tyr)
n.552G>A
 gnomAD v4
17g.28734866G>CCA499417025NEK8c.348G>C (p.Leu116=)
c.231G>C (p.Leu77=)
n.385G>C
n.346G>C
c.420G>C (p.Leu140=)
c.104G>C (p.Cys35Ser)
n.552G>C
17g.28734866G>TCA499417024NEK8c.348G>T (p.Leu116=)
c.231G>T (p.Leu77=)
n.385G>T
n.346G>T
c.420G>T (p.Leu140=)
c.104G>T (p.Cys35Phe)
n.552G>T
17g.28734867C>ACA398424505NEK8c.349C>A (p.His117Asn)
c.232C>A (p.His78Asn)
n.386C>A
n.347C>A
c.421C>A (p.His141Asn)
c.105C>A (p.Cys35Ter)
n.553C>A
 gnomAD v4
17g.28734867C>GCA398424508NEK8c.349C>G (p.His117Asp)
c.232C>G (p.His78Asp)
n.386C>G
n.347C>G
c.421C>G (p.His141Asp)
c.105C>G (p.Cys35Trp)
n.553C>G
17g.28734867C>TCA398424510NEK8c.349C>T (p.His117Tyr)
c.232C>T (p.His78Tyr)
n.386C>T
n.347C>T
c.421C>T (p.His141Tyr)
c.105C>T (p.Cys35=)
n.553C>T
 gnomAD v4
17g.28734868A>CCA398424521NEK8c.350A>C (p.His117Pro)
c.233A>C (p.His78Pro)
n.387A>C
n.348A>C
c.422A>C (p.His141Pro)
c.106A>C (p.Ile36Leu)
n.554A>C
 gnomAD v4 COSMIC COSMIC
17g.28734868A>GCA398424518NEK8c.350A>G (p.His117Arg)
c.233A>G (p.His78Arg)
n.387A>G
n.348A>G
c.422A>G (p.His141Arg)
c.106A>G (p.Ile36Val)
n.554A>G
 gnomAD v4
17g.28734868A>TCA398424516NEK8c.350A>T (p.His117Leu)
c.233A>T (p.His78Leu)
n.387A>T
n.348A>T
c.422A>T (p.His141Leu)
c.106A>T (p.Ile36Phe)
n.554A>T
17g.28734869T>ACA398424524NEK8c.351T>A (p.His117Gln)
c.234T>A (p.His78Gln)
n.388T>A
n.349T>A
c.423T>A (p.His141Gln)
c.107T>A (p.Ile36Asn)
n.555T>A
17g.28734869T>CCA499417027NEK8c.351T>C (p.His117=)
c.234T>C (p.His78=)
n.388T>C
n.349T>C
c.423T>C (p.His141=)
c.107T>C (p.Ile36Thr)
n.555T>C
17g.28734869T>GCA398424526NEK8c.351T>G (p.His117Gln)
c.234T>G (p.His78Gln)
n.388T>G
n.349T>G
c.423T>G (p.His141Gln)
c.107T>G (p.Ile36Ser)
n.555T>G
17g.28734870C>ACA398424531NEK8c.352C>A (p.His118Asn)
c.235C>A (p.His79Asn)
n.389C>A
n.350C>A
c.424C>A (p.His142Asn)
c.108C>A (p.Ile36=)
n.556C>A
17g.28734870C>GCA398424541NEK8c.352C>G (p.His118Asp)
c.235C>G (p.His79Asp)
n.389C>G
n.350C>G
c.424C>G (p.His142Asp)
c.108C>G (p.Ile36Met)
n.556C>G
17g.28734870C>TCA398424533NEK8c.352C>T (p.His118Tyr)
c.235C>T (p.His79Tyr)
n.389C>T
n.350C>T
c.424C>T (p.His142Tyr)
c.108C>T (p.Ile36=)
n.556C>T
17g.28734871A=CA2254442045NEK8c.353A= (p.His118=)
c.236A= (p.His79=)
n.390A=
n.351A=
c.425A= (p.His142=)
c.109A= (p.Met37=)
n.557A=
17g.28734871A>CCA398424546NEK8c.353A>C (p.His118Pro)
c.236A>C (p.His79Pro)
n.390A>C
n.351A>C
c.425A>C (p.His142Pro)
c.109A>C (p.Met37Leu)
n.557A>C
17g.28734871A>GCA8467068NEK8c.353A>G (p.His118Arg)
c.236A>G (p.His79Arg)
n.390A>G
n.351A>G
c.425A>G (p.His142Arg)
c.109A>G (p.Met37Val)
n.557A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.28734871A>TCA398424556NEK8c.353A>T (p.His118Leu)
c.236A>T (p.His79Leu)
n.390A>T
n.351A>T
c.425A>T (p.His142Leu)
c.109A>T (p.Met37Leu)
n.557A>T
 dbSNP gnomAD v3 gnomAD v4
17g.28734872T>ACA398424560NEK8c.354T>A (p.His118Gln)
c.237T>A (p.His79Gln)
n.391T>A
n.352T>A
c.426T>A (p.His142Gln)
c.110T>A (p.Met37Lys)
n.558T>A
17g.28734872T>CCA499417028NEK8c.354T>C (p.His118=)
c.237T>C (p.His79=)
n.391T>C
n.352T>C
c.426T>C (p.His142=)
c.110T>C (p.Met37Thr)
n.558T>C
 gnomAD v4
17g.28734872T>GCA398424563NEK8c.354T>G (p.His118Gln)
c.237T>G (p.His79Gln)
n.391T>G
n.352T>G
c.426T>G (p.His142Gln)
c.110T>G (p.Met37Arg)
n.558T>G
17g.28734873G>ACA398424574NEK8c.355G>A (p.Val119Met)
c.238G>A (p.Val80Met)
n.392G>A
n.353G>A
c.427G>A (p.Val143Met)
c.111G>A (p.Met37Ile)
n.559G>A
17g.28734873G>CCA398424570NEK8c.355G>C (p.Val119Leu)
c.238G>C (p.Val80Leu)
n.392G>C
n.353G>C
c.427G>C (p.Val143Leu)
c.111G>C (p.Met37Ile)
n.559G>C
17g.28734873G>TCA398424567NEK8c.355G>T (p.Val119Leu)
c.238G>T (p.Val80Leu)
n.392G>T
n.353G>T
c.427G>T (p.Val143Leu)
c.111G>T (p.Met37Ile)
n.559G>T
17g.28734874T>ACA398424578NEK8c.356T>A (p.Val119Glu)
c.239T>A (p.Val80Glu)
n.393T>A
n.354T>A
c.428T>A (p.Val143Glu)
c.112T>A (p.Cys38Ser)
n.560T>A
17g.28734874T>CCA398424580NEK8c.356T>C (p.Val119Ala)
c.239T>C (p.Val80Ala)
n.393T>C
n.354T>C
c.428T>C (p.Val143Ala)
c.112T>C (p.Cys38Arg)
n.560T>C
17g.28734874T>GCA398424583NEK8c.356T>G (p.Val119Gly)
c.239T>G (p.Val80Gly)
n.393T>G
n.354T>G
c.428T>G (p.Val143Gly)
c.112T>G (p.Cys38Gly)
n.560T>G
17g.28734875G>ACA499417029NEK8c.357G>A (p.Val119=)
c.240G>A (p.Val80=)
n.394G>A
n.355G>A
c.429G>A (p.Val143=)
c.113G>A (p.Cys38Tyr)
n.561G>A
 dbSNP gnomAD v2 gnomAD v4
17g.28734875G>CCA499417030NEK8c.357G>C (p.Val119=)
c.240G>C (p.Val80=)
n.394G>C
n.355G>C
c.429G>C (p.Val143=)
c.113G>C (p.Cys38Ser)
n.561G>C
17g.28734875G=CA2254442046NEK8c.357G= (p.Val119=)
c.240G= (p.Val80=)
n.394G=
n.355G=
c.429G= (p.Val143=)
c.113G= (p.Cys38=)
n.561G=
17g.28734875G>TCA499417031NEK8c.357G>T (p.Val119=)
c.240G>T (p.Val80=)
n.394G>T
n.355G>T
c.429G>T (p.Val143=)
c.113G>T (p.Cys38Phe)
n.561G>T
17g.28734876C>ACA398424588NEK8c.358C>A (p.His120Asn)
c.241C>A (p.His81Asn)
n.395C>A
n.356C>A
c.430C>A (p.His144Asn)
c.114C>A (p.Cys38Ter)
n.562C>A
17g.28734876C>GCA398424591NEK8c.358C>G (p.His120Asp)
c.241C>G (p.His81Asp)
n.395C>G
n.356C>G
c.430C>G (p.His144Asp)
c.114C>G (p.Cys38Trp)
n.562C>G
17g.28734876C>TCA398424594NEK8c.358C>T (p.His120Tyr)
c.241C>T (p.His81Tyr)
n.395C>T
n.356C>T
c.430C>T (p.His144Tyr)
c.114C>T (p.Cys38=)
n.562C>T
 gnomAD v4
17g.28734877A=CA2254442047NEK8c.359A= (p.His120=)
c.242A= (p.His81=)
n.396A=
n.357A=
c.431A= (p.His144=)
c.115A= (p.Thr39=)
n.563A=
17g.28734877A>CCA398424606NEK8c.359A>C (p.His120Pro)
c.242A>C (p.His81Pro)
n.396A>C
n.357A>C
c.431A>C (p.His144Pro)
c.115A>C (p.Thr39Pro)
n.563A>C
 dbSNP gnomAD v4
17g.28734877A>GCA398424600NEK8c.359A>G (p.His120Arg)
c.242A>G (p.His81Arg)
n.396A>G
n.357A>G
c.431A>G (p.His144Arg)
c.115A>G (p.Thr39Ala)
n.563A>G
 gnomAD v4
17g.28734877A>TCA398424603NEK8c.359A>T (p.His120Leu)
c.242A>T (p.His81Leu)
n.396A>T
n.357A>T
c.431A>T (p.His144Leu)
c.115A>T (p.Thr39Ser)
n.563A>T

Number of alleles fetched