Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2046160C>ACA394295274NTHL1c.31G>T (p.Glu11Ter)
c.322G>T (p.Glu108Ter)
c.277G>T (p.Glu93Ter)
c.346G>T (p.Glu116Ter)
c.242G>T
n.55G>T
c.285G>T
c.173+120G>T
c.24+120G>T (n.24+120G>T)
 ClinVar
16g.2046160C=CA2201986603NTHL1c.31G= (p.Glu11=)
c.322G= (p.Glu108=)
c.277G= (p.Glu93=)
c.346G= (p.Glu116=)
c.242G=
n.55G=
c.285G=
c.173+120G=
c.24+120G= (n.24+120G=)
16g.2046160C>GCA394295280NTHL1c.31G>C (p.Glu11Gln)
c.322G>C (p.Glu108Gln)
c.277G>C (p.Glu93Gln)
c.346G>C (p.Glu116Gln)
c.242G>C
n.55G>C
c.285G>C
c.173+120G>C
c.24+120G>C (n.24+120G>C)
16g.2046160C>TCA394295281NTHL1c.31G>A (p.Glu11Lys)
c.322G>A (p.Glu108Lys)
c.277G>A (p.Glu93Lys)
c.346G>A (p.Glu116Lys)
c.242G>A
n.55G>A
c.285G>A
c.173+120G>A
c.24+120G>A (n.24+120G>A)
 ClinVar dbSNP gnomAD v4
16g.2046161A>CCA492953223NTHL1c.30T>G (p.Thr10=)
c.321T>G (p.Thr107=)
c.276T>G (p.Thr92=)
c.345T>G (p.Thr115=)
c.241T>G
n.54T>G
c.284T>G
c.173+119T>G
c.24+119T>G (n.24+119T>G)
16g.2046161A>GCA492953224NTHL1c.30T>C (p.Thr10=)
c.321T>C (p.Thr107=)
c.276T>C (p.Thr92=)
c.345T>C (p.Thr115=)
c.241T>C
n.54T>C
c.284T>C
c.173+119T>C
c.24+119T>C (n.24+119T>C)
 ClinVar
16g.2046161A>TCA492953225NTHL1c.30T>A (p.Thr10=)
c.321T>A (p.Thr107=)
c.276T>A (p.Thr92=)
c.345T>A (p.Thr115=)
c.241T>A
n.54T>A
c.284T>A
c.173+119T>A
c.24+119T>A (n.24+119T>A)
16g.2046162G>ACA394295285NTHL1c.29C>T (p.Thr10Ile)
c.320C>T (p.Thr107Ile)
c.275C>T (p.Thr92Ile)
c.344C>T (p.Thr115Ile)
c.240C>T
n.53C>T
c.283C>T
c.173+118C>T
c.24+118C>T (n.24+118C>T)
 ClinVar
16g.2046162G>CCA394295291NTHL1c.29C>G (p.Thr10Ser)
c.320C>G (p.Thr107Ser)
c.275C>G (p.Thr92Ser)
c.344C>G (p.Thr115Ser)
c.240C>G
n.53C>G
c.283C>G
c.173+118C>G
c.24+118C>G (n.24+118C>G)
16g.2046162G>TCA394295295NTHL1c.29C>A (p.Thr10Asn)
c.320C>A (p.Thr107Asn)
c.275C>A (p.Thr92Asn)
c.344C>A (p.Thr115Asn)
c.240C>A
n.53C>A
c.283C>A
c.173+118C>A
c.24+118C>A (n.24+118C>A)
16g.2046163T>ACA394295308NTHL1c.28A>T (p.Thr10Ser)
c.319A>T (p.Thr107Ser)
c.274A>T (p.Thr92Ser)
c.343A>T (p.Thr115Ser)
c.239A>T
n.52A>T
c.282A>T
c.173+117A>T
c.24+117A>T (n.24+117A>T)
 dbSNP
16g.2046163T>CCA394295319NTHL1c.28A>G (p.Thr10Ala)
c.319A>G (p.Thr107Ala)
c.274A>G (p.Thr92Ala)
c.343A>G (p.Thr115Ala)
c.239A>G
n.52A>G
c.282A>G
c.173+117A>G
c.24+117A>G (n.24+117A>G)
 ClinVar dbSNP gnomAD v4
16g.2046163T>GCA276765601NTHL1c.28A>C (p.Thr10Pro)
c.319A>C (p.Thr107Pro)
c.274A>C (p.Thr92Pro)
c.343A>C (p.Thr115Pro)
c.239A>C
n.52A>C
c.282A>C
c.173+117A>C
c.24+117A>C (n.24+117A>C)
 ClinVar dbSNP
16g.2046163T=CA2201986607NTHL1c.28A= (p.Thr10=)
c.319A= (p.Thr107=)
c.274A= (p.Thr92=)
c.343A= (p.Thr115=)
c.239A=
n.52A=
c.282A=
c.173+117A=
c.24+117A= (n.24+117A=)
16g.2046164C>ACA492953226NTHL1c.27G>T (p.Gly9=)
c.318G>T (p.Gly106=)
c.273G>T (p.Gly91=)
c.342G>T (p.Gly114=)
c.238G>T
n.51G>T
c.281G>T
c.173+116G>T
c.24+116G>T (n.24+116G>T)
 ClinVar
16g.2046164C=CA2201986610NTHL1c.27G= (p.Gly9=)
c.318G= (p.Gly106=)
c.273G= (p.Gly91=)
c.342G= (p.Gly114=)
c.238G=
n.51G=
c.281G=
c.173+116G=
c.24+116G= (n.24+116G=)
16g.2046164C>GCA492953227NTHL1c.27G>C (p.Gly9=)
c.318G>C (p.Gly106=)
c.273G>C (p.Gly91=)
c.342G>C (p.Gly114=)
c.238G>C
n.51G>C
c.281G>C
c.173+116G>C
c.24+116G>C (n.24+116G>C)
16g.2046164C>TCA492953228NTHL1c.27G>A (p.Gly9=)
c.318G>A (p.Gly106=)
c.273G>A (p.Gly91=)
c.342G>A (p.Gly114=)
c.238G>A
n.51G>A
c.281G>A
c.173+116G>A
c.24+116G>A (n.24+116G>A)
 ClinVar dbSNP gnomAD v4
16g.2046165C>ACA394295352NTHL1c.26G>T (p.Gly9Val)
c.317G>T (p.Gly106Val)
c.272G>T (p.Gly91Val)
c.341G>T (p.Gly114Val)
c.237G>T
n.50G>T
c.280G>T
c.173+115G>T
c.24+115G>T (n.24+115G>T)
16g.2046165C>GCA394295348NTHL1c.26G>C (p.Gly9Ala)
c.317G>C (p.Gly106Ala)
c.272G>C (p.Gly91Ala)
c.341G>C (p.Gly114Ala)
c.237G>C
n.50G>C
c.280G>C
c.173+115G>C
c.24+115G>C (n.24+115G>C)
 ClinVar
16g.2046165C>TCA394295340NTHL1c.26G>A (p.Gly9Glu)
c.317G>A (p.Gly106Glu)
c.272G>A (p.Gly91Glu)
c.341G>A (p.Gly114Glu)
c.237G>A
n.50G>A
c.280G>A
c.173+115G>A
c.24+115G>A (n.24+115G>A)
 ClinVar
16g.2046166C>ACA394295362NTHL1c.25G>T (p.Gly9Trp)
c.316G>T (p.Gly106Trp)
c.271G>T (p.Gly91Trp)
c.340G>T (p.Gly114Trp)
c.236G>T
n.49G>T
c.279G>T
c.173+114G>T
c.24+114G>T (n.24+114G>T)
16g.2046166C>GCA394295365NTHL1c.25G>C (p.Gly9Arg)
c.316G>C (p.Gly106Arg)
c.271G>C (p.Gly91Arg)
c.340G>C (p.Gly114Arg)
c.236G>C
n.49G>C
c.279G>C
c.173+114G>C
c.24+114G>C (n.24+114G>C)
16g.2046166C>TCA394295369NTHL1c.25G>A (p.Gly9Arg)
c.316G>A (p.Gly106Arg)
c.271G>A (p.Gly91Arg)
c.340G>A (p.Gly114Arg)
c.236G>A
n.49G>A
c.279G>A
c.173+114G>A
c.24+114G>A (n.24+114G>A)
 ClinVar dbSNP COSMIC
16g.2046167C>ACA492953229NTHL1c.24G>T (p.Leu8=)
c.315G>T (p.Leu105=)
c.270G>T (p.Leu90=)
c.339G>T (p.Leu113=)
c.235G>T
n.48G>T
c.278G>T
c.173+113G>T
c.24+113G>T (n.24+113G>T)
16g.2046167C>GCA492953230NTHL1c.24G>C (p.Leu8=)
c.315G>C (p.Leu105=)
c.270G>C (p.Leu90=)
c.339G>C (p.Leu113=)
c.235G>C
n.48G>C
c.278G>C
c.173+113G>C
c.24+113G>C (n.24+113G>C)
16g.2046167C>TCA492953231NTHL1c.24G>A (p.Leu8=)
c.315G>A (p.Leu105=)
c.270G>A (p.Leu90=)
c.339G>A (p.Leu113=)
c.235G>A
n.48G>A
c.278G>A
c.173+113G>A
c.24+113G>A (n.24+113G>A)
16g.2046170_2046180delCA2695197410NTHL1c.14_24del (p.Val5GlyfsTer3)
c.305_315del (p.Val102GlyfsTer3)
c.260_270del (p.Val87GlyfsTer3)
c.329_339del (p.Val110GlyfsTer3)
c.225_235del
n.38_48del
c.268_278del
c.173+103_173+113del
c.24+103_24+113del (n.24+103_24+113del)
 ClinVar
16g.2046168A>CCA394295373NTHL1c.23T>G (p.Leu8Arg)
c.314T>G (p.Leu105Arg)
c.269T>G (p.Leu90Arg)
c.338T>G (p.Leu113Arg)
c.234T>G
n.47T>G
c.277T>G
c.173+112T>G
c.24+112T>G (n.24+112T>G)
16g.2046168A>GCA394295376NTHL1c.23T>C (p.Leu8Pro)
c.314T>C (p.Leu105Pro)
c.269T>C (p.Leu90Pro)
c.338T>C (p.Leu113Pro)
c.234T>C
n.47T>C
c.277T>C
c.173+112T>C
c.24+112T>C (n.24+112T>C)
 ClinVar dbSNP
16g.2046168A>TCA394295379NTHL1c.23T>A (p.Leu8Gln)
c.314T>A (p.Leu105Gln)
c.269T>A (p.Leu90Gln)
c.338T>A (p.Leu113Gln)
c.234T>A
n.47T>A
c.277T>A
c.173+112T>A
c.24+112T>A (n.24+112T>A)
16g.2046169G>ACA492953232NTHL1c.22C>T (p.Leu8=)
c.313C>T (p.Leu105=)
c.268C>T (p.Leu90=)
c.337C>T (p.Leu113=)
c.233C>T
n.46C>T
c.276C>T
c.173+111C>T
c.24+111C>T (n.24+111C>T)
 ClinVar dbSNP
16g.2046169G>CCA394295396NTHL1c.22C>G (p.Leu8Val)
c.313C>G (p.Leu105Val)
c.268C>G (p.Leu90Val)
c.337C>G (p.Leu113Val)
c.233C>G
n.46C>G
c.276C>G
c.173+111C>G
c.24+111C>G (n.24+111C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2046169G=CA2201986613NTHL1c.22C= (p.Leu8=)
c.313C= (p.Leu105=)
c.268C= (p.Leu90=)
c.337C= (p.Leu113=)
c.233C=
n.46C=
c.276C=
c.173+111C=
c.24+111C= (n.24+111C=)
16g.2046169G>TCA394295385NTHL1c.22C>A (p.Leu8Met)
c.313C>A (p.Leu105Met)
c.268C>A (p.Leu90Met)
c.337C>A (p.Leu113Met)
c.233C>A
n.46C>A
c.276C>A
c.173+111C>A
c.24+111C>A (n.24+111C>A)
16g.2046170A=CA2201986616NTHL1c.21T= (p.His7=)
c.312T= (p.His104=)
c.267T= (p.His89=)
c.336T= (p.His112=)
c.232T=
n.45T=
c.275T=
c.173+110T=
c.24+110T= (n.24+110T=)
16g.2046170A>CCA394295399NTHL1c.21T>G (p.His7Gln)
c.312T>G (p.His104Gln)
c.267T>G (p.His89Gln)
c.336T>G (p.His112Gln)
c.232T>G
n.45T>G
c.275T>G
c.173+110T>G
c.24+110T>G (n.24+110T>G)
 ClinVar
16g.2046170A>GCA7828324NTHL1c.21T>C (p.His7=)
c.312T>C (p.His104=)
c.267T>C (p.His89=)
c.336T>C (p.His112=)
c.232T>C
n.45T>C
c.275T>C
c.173+110T>C
c.24+110T>C (n.24+110T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2046170A>TCA394295407NTHL1c.21T>A (p.His7Gln)
c.312T>A (p.His104Gln)
c.267T>A (p.His89Gln)
c.336T>A (p.His112Gln)
c.232T>A
n.45T>A
c.275T>A
c.173+110T>A
c.24+110T>A (n.24+110T>A)
16g.2046171T>ACA394295409NTHL1c.20A>T (p.His7Leu)
c.311A>T (p.His104Leu)
c.266A>T (p.His89Leu)
c.335A>T (p.His112Leu)
c.231A>T
n.44A>T
c.274A>T
c.173+109A>T
c.24+109A>T (n.24+109A>T)
16g.2046171T>CCA394295410NTHL1c.20A>G (p.His7Arg)
c.311A>G (p.His104Arg)
c.266A>G (p.His89Arg)
c.335A>G (p.His112Arg)
c.231A>G
n.44A>G
c.274A>G
c.173+109A>G
c.24+109A>G (n.24+109A>G)
16g.2046171T>GCA394295411NTHL1c.20A>C (p.His7Pro)
c.311A>C (p.His104Pro)
c.266A>C (p.His89Pro)
c.335A>C (p.His112Pro)
c.231A>C
n.44A>C
c.274A>C
c.173+109A>C
c.24+109A>C (n.24+109A>C)
 dbSNP
16g.2046172G>ACA394295413NTHL1c.19C>T (p.His7Tyr)
c.310C>T (p.His104Tyr)
c.265C>T (p.His89Tyr)
c.334C>T (p.His112Tyr)
c.230C>T
n.43C>T
c.273C>T
c.173+108C>T
c.24+108C>T (n.24+108C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2046172G>CCA394295415NTHL1c.19C>G (p.His7Asp)
c.310C>G (p.His104Asp)
c.265C>G (p.His89Asp)
c.334C>G (p.His112Asp)
c.230C>G
n.43C>G
c.273C>G
c.173+108C>G
c.24+108C>G (n.24+108C>G)
 ClinVar gnomAD v4
16g.2046172G=CA2201986618NTHL1c.19C= (p.His7=)
c.310C= (p.His104=)
c.265C= (p.His89=)
c.334C= (p.His112=)
c.230C=
n.43C=
c.273C=
c.173+108C=
c.24+108C= (n.24+108C=)
16g.2046172G>TCA394295414NTHL1c.19C>A (p.His7Asn)
c.310C>A (p.His104Asn)
c.265C>A (p.His89Asn)
c.334C>A (p.His112Asn)
c.230C>A
n.43C>A
c.273C>A
c.173+108C>A
c.24+108C>A (n.24+108C>A)
 ClinVar
16g.2046173G>ACA492953233NTHL1c.18C>T (p.Asp6=)
c.309C>T (p.Asp103=)
c.264C>T (p.Asp88=)
c.333C>T (p.Asp111=)
c.229C>T
n.42C>T
c.272C>T
c.173+107C>T
c.24+107C>T (n.24+107C>T)
 ClinVar dbSNP
16g.2046173G>CCA394295418NTHL1c.18C>G (p.Asp6Glu)
c.309C>G (p.Asp103Glu)
c.264C>G (p.Asp88Glu)
c.333C>G (p.Asp111Glu)
c.229C>G
n.42C>G
c.272C>G
c.173+107C>G
c.24+107C>G (n.24+107C>G)
 dbSNP
16g.2046173G>TCA394295422NTHL1c.18C>A (p.Asp6Glu)
c.309C>A (p.Asp103Glu)
c.264C>A (p.Asp88Glu)
c.333C>A (p.Asp111Glu)
c.229C>A
n.42C>A
c.272C>A
c.173+107C>A
c.24+107C>A (n.24+107C>A)
16g.2046174T>ACA394295425NTHL1c.17A>T (p.Asp6Val)
c.308A>T (p.Asp103Val)
c.263A>T (p.Asp88Val)
c.332A>T (p.Asp111Val)
c.228A>T
n.41A>T
c.271A>T
c.173+106A>T
c.24+106A>T (n.24+106A>T)
 dbSNP
16g.2046174T>CCA7828325NTHL1c.17A>G (p.Asp6Gly)
c.308A>G (p.Asp103Gly)
c.263A>G (p.Asp88Gly)
c.332A>G (p.Asp111Gly)
c.228A>G
n.41A>G
c.271A>G
c.173+106A>G
c.24+106A>G (n.24+106A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2046174T>GCA394295435NTHL1c.17A>C (p.Asp6Ala)
c.308A>C (p.Asp103Ala)
c.263A>C (p.Asp88Ala)
c.332A>C (p.Asp111Ala)
c.228A>C
n.41A>C
c.271A>C
c.173+106A>C
c.24+106A>C (n.24+106A>C)
16g.2046174T=CA2201986620NTHL1c.17A= (p.Asp6=)
c.308A= (p.Asp103=)
c.263A= (p.Asp88=)
c.332A= (p.Asp111=)
c.228A=
n.41A=
c.271A=
c.173+106A=
c.24+106A= (n.24+106A=)
16g.2046175C>ACA394295438NTHL1c.16G>T (p.Asp6Tyr)
c.307G>T (p.Asp103Tyr)
c.262G>T (p.Asp88Tyr)
c.331G>T (p.Asp111Tyr)
c.227G>T
n.40G>T
c.270G>T
c.173+105G>T
c.24+105G>T (n.24+105G>T)
16g.2046175C>GCA394295441NTHL1c.16G>C (p.Asp6His)
c.307G>C (p.Asp103His)
c.262G>C (p.Asp88His)
c.331G>C (p.Asp111His)
c.227G>C
n.40G>C
c.270G>C
c.173+105G>C
c.24+105G>C (n.24+105G>C)
 dbSNP
16g.2046175C>TCA394295449NTHL1c.16G>A (p.Asp6Asn)
c.307G>A (p.Asp103Asn)
c.262G>A (p.Asp88Asn)
c.331G>A (p.Asp111Asn)
c.227G>A
n.40G>A
c.270G>A
c.173+105G>A
c.24+105G>A (n.24+105G>A)
16g.2046176dupCA2499223261NTHL1c.16dup (p.Asp6GlyfsTer6)
c.307dup (p.Asp103GlyfsTer6)
c.262dup (p.Asp88GlyfsTer6)
c.331dup (p.Asp111GlyfsTer6)
c.227dup
n.40dup
c.270dup
c.173+105dup
c.24+105dup (n.24+105dup)
 ClinVar dbSNP
16g.2046176C>ACA492953236NTHL1c.15G>T (p.Val5=)
c.306G>T (p.Val102=)
c.261G>T (p.Val87=)
c.330G>T (p.Val110=)
c.226G>T
n.39G>T
c.269G>T
c.173+104G>T
c.24+104G>T (n.24+104G>T)
16g.2046176C=CA2201986622NTHL1c.15G= (p.Val5=)
c.306G= (p.Val102=)
c.261G= (p.Val87=)
c.330G= (p.Val110=)
c.226G=
n.39G=
c.269G=
c.173+104G=
c.24+104G= (n.24+104G=)
16g.2046176C>GCA492953234NTHL1c.15G>C (p.Val5=)
c.306G>C (p.Val102=)
c.261G>C (p.Val87=)
c.330G>C (p.Val110=)
c.226G>C
n.39G>C
c.269G>C
c.173+104G>C
c.24+104G>C (n.24+104G>C)
16g.2046176C>TCA492953235NTHL1c.15G>A (p.Val5=)
c.306G>A (p.Val102=)
c.261G>A (p.Val87=)
c.330G>A (p.Val110=)
c.226G>A
n.39G>A
c.269G>A
c.173+104G>A
c.24+104G>A (n.24+104G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2046177A>CCA394295453NTHL1c.14T>G (p.Val5Gly)
c.305T>G (p.Val102Gly)
c.260T>G (p.Val87Gly)
c.329T>G (p.Val110Gly)
c.225T>G
n.38T>G
c.268T>G
c.173+103T>G
c.24+103T>G (n.24+103T>G)
 ClinVar dbSNP
16g.2046177A>GCA394295477NTHL1c.14T>C (p.Val5Ala)
c.305T>C (p.Val102Ala)
c.260T>C (p.Val87Ala)
c.329T>C (p.Val110Ala)
c.225T>C
n.38T>C
c.268T>C
c.173+103T>C
c.24+103T>C (n.24+103T>C)
16g.2046177A>TCA394295490NTHL1c.14T>A (p.Val5Glu)
c.305T>A (p.Val102Glu)
c.260T>A (p.Val87Glu)
c.329T>A (p.Val110Glu)
c.225T>A
n.38T>A
c.268T>A
c.173+103T>A
c.24+103T>A (n.24+103T>A)
16g.2046178C>ACA394295496NTHL1c.13G>T (p.Val5Leu)
c.304G>T (p.Val102Leu)
c.259G>T (p.Val87Leu)
c.328G>T (p.Val110Leu)
c.224G>T
n.37G>T
c.267G>T
c.173+102G>T
c.24+102G>T (n.24+102G>T)
16g.2046178C=CA2201986625NTHL1c.13G= (p.Val5=)
c.304G= (p.Val102=)
c.259G= (p.Val87=)
c.328G= (p.Val110=)
c.224G=
n.37G=
c.267G=
c.173+102G=
c.24+102G= (n.24+102G=)
16g.2046178C>GCA394295501NTHL1c.13G>C (p.Val5Leu)
c.304G>C (p.Val102Leu)
c.259G>C (p.Val87Leu)
c.328G>C (p.Val110Leu)
c.224G>C
n.37G>C
c.267G>C
c.173+102G>C
c.24+102G>C (n.24+102G>C)
 gnomAD v4
16g.2046178C>TCA394295499NTHL1c.13G>A (p.Val5Met)
c.304G>A (p.Val102Met)
c.259G>A (p.Val87Met)
c.328G>A (p.Val110Met)
c.224G>A
n.37G>A
c.267G>A
c.173+102G>A
c.24+102G>A (n.24+102G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2046179A=CA2201986627NTHL1c.12T= (p.Pro4=)
c.303T= (p.Pro101=)
c.258T= (p.Pro86=)
c.327T= (p.Pro109=)
c.223T=
n.36T=
c.266T=
c.173+101T=
c.24+101T= (n.24+101T=)
16g.2046179A>CCA492953237NTHL1c.12T>G (p.Pro4=)
c.303T>G (p.Pro101=)
c.258T>G (p.Pro86=)
c.327T>G (p.Pro109=)
c.223T>G
n.36T>G
c.266T>G
c.173+101T>G
c.24+101T>G (n.24+101T>G)
16g.2046179A>GCA492953238NTHL1c.12T>C (p.Pro4=)
c.303T>C (p.Pro101=)
c.258T>C (p.Pro86=)
c.327T>C (p.Pro109=)
c.223T>C
n.36T>C
c.266T>C
c.173+101T>C
c.24+101T>C (n.24+101T>C)
16g.2046179A>TCA7828326NTHL1c.12T>A (p.Pro4=)
c.303T>A (p.Pro101=)
c.258T>A (p.Pro86=)
c.327T>A (p.Pro109=)
c.223T>A
n.36T>A
c.266T>A
c.173+101T>A
c.24+101T>A (n.24+101T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2046180G>ACA394295508NTHL1c.11C>T (p.Pro4Leu)
c.302C>T (p.Pro101Leu)
c.257C>T (p.Pro86Leu)
c.326C>T (p.Pro109Leu)
c.222C>T
n.35C>T
c.265C>T
c.173+100C>T
c.24+100C>T (n.24+100C>T)
 ClinVar
16g.2046180G>CCA394295505NTHL1c.11C>G (p.Pro4Arg)
c.302C>G (p.Pro101Arg)
c.257C>G (p.Pro86Arg)
c.326C>G (p.Pro109Arg)
c.222C>G
n.35C>G
c.265C>G
c.173+100C>G
c.24+100C>G (n.24+100C>G)
16g.2046180G>TCA394295509NTHL1c.11C>A (p.Pro4His)
c.302C>A (p.Pro101His)
c.257C>A (p.Pro86His)
c.326C>A (p.Pro109His)
c.222C>A
n.35C>A
c.265C>A
c.173+100C>A
c.24+100C>A (n.24+100C>A)
16g.2046181G>ACA394295510NTHL1c.10C>T (p.Pro4Ser)
c.301C>T (p.Pro101Ser)
c.256C>T (p.Pro86Ser)
c.325C>T (p.Pro109Ser)
c.221C>T
n.34C>T
c.264C>T
c.173+99C>T
c.24+99C>T (n.24+99C>T)
 ClinVar dbSNP gnomAD v4
16g.2046181G>CCA394295511NTHL1c.10C>G (p.Pro4Ala)
c.301C>G (p.Pro101Ala)
c.256C>G (p.Pro86Ala)
c.325C>G (p.Pro109Ala)
c.221C>G
n.34C>G
c.264C>G
c.173+99C>G
c.24+99C>G (n.24+99C>G)
 ClinVar dbSNP
16g.2046181G=CA2201986630NTHL1c.10C= (p.Pro4=)
c.301C= (p.Pro101=)
c.256C= (p.Pro86=)
c.325C= (p.Pro109=)
c.221C=
n.34C=
c.264C=
c.173+99C=
c.24+99C= (n.24+99C=)
16g.2046181G>TCA394295514NTHL1c.10C>A (p.Pro4Thr)
c.301C>A (p.Pro101Thr)
c.256C>A (p.Pro86Thr)
c.325C>A (p.Pro109Thr)
c.221C>A
n.34C>A
c.264C>A
c.173+99C>A
c.24+99C>A (n.24+99C>A)
16g.2046182T>ACA492953239NTHL1c.9A>T (p.Ala3=)
c.300A>T (p.Ala100=)
c.255A>T (p.Ala85=)
c.324A>T (p.Ala108=)
c.220A>T
n.33A>T
c.263A>T
c.173+98A>T
c.24+98A>T (n.24+98A>T)
 ClinVar dbSNP
16g.2046182T>CCA492953240NTHL1c.9A>G (p.Ala3=)
c.300A>G (p.Ala100=)
c.255A>G (p.Ala85=)
c.324A>G (p.Ala108=)
c.220A>G
n.33A>G
c.263A>G
c.173+98A>G
c.24+98A>G (n.24+98A>G)
 ClinVar dbSNP
16g.2046182T>GCA492953241NTHL1c.9A>C (p.Ala3=)
c.300A>C (p.Ala100=)
c.255A>C (p.Ala85=)
c.324A>C (p.Ala108=)
c.220A>C
n.33A>C
c.263A>C
c.173+98A>C
c.24+98A>C (n.24+98A>C)
16g.2046183G>ACA394295524NTHL1c.8C>T (p.Ala3Val)
c.299C>T (p.Ala100Val)
c.254C>T (p.Ala85Val)
c.323C>T (p.Ala108Val)
c.219C>T
n.32C>T
c.262C>T
c.173+97C>T
c.24+97C>T (n.24+97C>T)
 ClinVar dbSNP
16g.2046183G>CCA394295525NTHL1c.8C>G (p.Ala3Gly)
c.299C>G (p.Ala100Gly)
c.254C>G (p.Ala85Gly)
c.323C>G (p.Ala108Gly)
c.219C>G
n.32C>G
c.262C>G
c.173+97C>G
c.24+97C>G (n.24+97C>G)
16g.2046183G=CA2201986633NTHL1c.8C= (p.Ala3=)
c.299C= (p.Ala100=)
c.254C= (p.Ala85=)
c.323C= (p.Ala108=)
c.219C=
n.32C=
c.262C=
c.173+97C=
c.24+97C= (n.24+97C=)
16g.2046183G>TCA394295526NTHL1c.8C>A (p.Ala3Glu)
c.299C>A (p.Ala100Glu)
c.254C>A (p.Ala85Glu)
c.323C>A (p.Ala108Glu)
c.219C>A
n.32C>A
c.262C>A
c.173+97C>A
c.24+97C>A (n.24+97C>A)
 dbSNP gnomAD v3 gnomAD v4
16g.2046184C>ACA394295528NTHL1c.7G>T (p.Ala3Ser)
c.298G>T (p.Ala100Ser)
c.253G>T (p.Ala85Ser)
c.322G>T (p.Ala108Ser)
c.218G>T
n.31G>T
c.261G>T
c.173+96G>T
c.24+96G>T (n.24+96G>T)
16g.2046184C=CA2201986635NTHL1c.7G= (p.Ala3=)
c.298G= (p.Ala100=)
c.253G= (p.Ala85=)
c.322G= (p.Ala108=)
c.218G=
n.31G=
c.261G=
c.173+96G=
c.24+96G= (n.24+96G=)
16g.2046184C>GCA394295531NTHL1c.7G>C (p.Ala3Pro)
c.298G>C (p.Ala100Pro)
c.253G>C (p.Ala85Pro)
c.322G>C (p.Ala108Pro)
c.218G>C
n.31G>C
c.261G>C
c.173+96G>C
c.24+96G>C (n.24+96G>C)
16g.2046184C>TCA7828327NTHL1c.7G>A (p.Ala3Thr)
c.298G>A (p.Ala100Thr)
c.253G>A (p.Ala85Thr)
c.322G>A (p.Ala108Thr)
c.218G>A
n.31G>A
c.261G>A
c.173+96G>A
c.24+96G>A (n.24+96G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2046185A=CA2201986638NTHL1c.6T= (p.Asp2=)
c.297T= (p.Asp99=)
c.252T= (p.Asp84=)
c.321T= (p.Asp107=)
c.217T=
n.30T=
c.260T=
c.173+95T=
c.24+95T= (n.24+95T=)
16g.2046185A>CCA394295533NTHL1c.6T>G (p.Asp2Glu)
c.297T>G (p.Asp99Glu)
c.252T>G (p.Asp84Glu)
c.321T>G (p.Asp107Glu)
c.217T>G
n.30T>G
c.260T>G
c.173+95T>G
c.24+95T>G (n.24+95T>G)
 ClinVar
16g.2046185A>GCA492953242NTHL1c.6T>C (p.Asp2=)
c.297T>C (p.Asp99=)
c.252T>C (p.Asp84=)
c.321T>C (p.Asp107=)
c.217T>C
n.30T>C
c.260T>C
c.173+95T>C
c.24+95T>C (n.24+95T>C)
 ClinVar dbSNP
16g.2046185A>TCA394295535NTHL1c.6T>A (p.Asp2Glu)
c.297T>A (p.Asp99Glu)
c.252T>A (p.Asp84Glu)
c.321T>A (p.Asp107Glu)
c.217T>A
n.30T>A
c.260T>A
c.173+95T>A
c.24+95T>A (n.24+95T>A)
16g.2046186T>ACA394295549NTHL1c.5A>T (p.Asp2Val)
c.296A>T (p.Asp99Val)
c.251A>T (p.Asp84Val)
c.320A>T (p.Asp107Val)
c.216A>T
n.29A>T
c.259A>T
c.173+94A>T
c.24+94A>T (n.24+94A>T)
16g.2046186T>CCA394295540NTHL1c.5A>G (p.Asp2Gly)
c.296A>G (p.Asp99Gly)
c.251A>G (p.Asp84Gly)
c.320A>G (p.Asp107Gly)
c.216A>G
n.29A>G
c.259A>G
c.173+94A>G
c.24+94A>G (n.24+94A>G)
16g.2046186T>GCA276765608NTHL1c.5A>C (p.Asp2Ala)
c.296A>C (p.Asp99Ala)
c.251A>C (p.Asp84Ala)
c.320A>C (p.Asp107Ala)
c.216A>C
n.29A>C
c.259A>C
c.173+94A>C
c.24+94A>C (n.24+94A>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2046186T=CA2201986640NTHL1c.5A= (p.Asp2=)
c.296A= (p.Asp99=)
c.251A= (p.Asp84=)
c.320A= (p.Asp107=)
c.216A=
n.29A=
c.259A=
c.173+94A=
c.24+94A= (n.24+94A=)
16g.2046187C>ACA394295556NTHL1c.4G>T (p.Asp2Tyr)
c.295G>T (p.Asp99Tyr)
c.250G>T (p.Asp84Tyr)
c.319G>T (p.Asp107Tyr)
c.215G>T
n.28G>T
c.258G>T
c.173+93G>T
c.24+93G>T (n.24+93G>T)
 ClinVar dbSNP
16g.2046187C=CA2201986643NTHL1c.4G= (p.Asp2=)
c.295G= (p.Asp99=)
c.250G= (p.Asp84=)
c.319G= (p.Asp107=)
c.215G=
n.28G=
c.258G=
c.173+93G=
c.24+93G= (n.24+93G=)
16g.2046187C>GCA7828328NTHL1c.4G>C (p.Asp2His)
c.295G>C (p.Asp99His)
c.250G>C (p.Asp84His)
c.319G>C (p.Asp107His)
c.215G>C
n.28G>C
c.258G>C
c.173+93G>C
c.24+93G>C (n.24+93G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2046187C>TCA394295570NTHL1c.4G>A (p.Asp2Asn)
c.295G>A (p.Asp99Asn)
c.250G>A (p.Asp84Asn)
c.319G>A (p.Asp107Asn)
c.215G>A
n.28G>A
c.258G>A
c.173+93G>A
c.24+93G>A (n.24+93G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2046188C>ACA394295574NTHL1c.3G>T (p.Lys1Asn)
c.294G>T (p.Lys98Asn)
c.249G>T (p.Lys83Asn)
c.318G>T (p.Lys106Asn)
c.214G>T
n.27G>T
c.257G>T
c.173+92G>T
c.24+92G>T (n.24+92G>T)
16g.2046188C=CA2201986648NTHL1c.3G= (p.Lys1=)
c.294G= (p.Lys98=)
c.249G= (p.Lys83=)
c.318G= (p.Lys106=)
c.214G=
n.27G=
c.257G=
c.173+92G=
c.24+92G= (n.24+92G=)
16g.2046188C>GCA394295576NTHL1c.3G>C (p.Lys1Asn)
c.294G>C (p.Lys98Asn)
c.249G>C (p.Lys83Asn)
c.318G>C (p.Lys106Asn)
c.214G>C
n.27G>C
c.257G>C
c.173+92G>C
c.24+92G>C (n.24+92G>C)
16g.2046188C>TCA492953243NTHL1c.3G>A (p.Lys1=)
c.294G>A (p.Lys98=)
c.249G>A (p.Lys83=)
c.318G>A (p.Lys106=)
c.214G>A
n.27G>A
c.257G>A
c.173+92G>A
c.24+92G>A (n.24+92G>A)
 dbSNP gnomAD v3 gnomAD v4
16g.2046188_2046189delinsCTCA2201986647NTHL1c.2_3delinsAG (p.Lys1=)
c.293_294delinsAG (p.Lys98=)
c.248_249delinsAG (p.Lys83=)
c.317_318delinsAG (p.Lys106=)
c.213_214delinsAG
n.26_27delinsAG
c.256_257delinsAG
c.173+91_173+92delinsAG
c.24+91_24+92delinsAG (n.24+91_24+92delinsAG)
16g.2046189T>ACA394295581NTHL1c.2A>T (p.Lys1Met)
c.293A>T (p.Lys98Met)
c.248A>T (p.Lys83Met)
c.317A>T (p.Lys106Met)
c.213A>T
n.26A>T
c.256A>T
c.173+91A>T
c.24+91A>T (n.24+91A>T)
16g.2046189T>CCA394295586NTHL1c.2A>G (p.Lys1Arg)
c.293A>G (p.Lys98Arg)
c.248A>G (p.Lys83Arg)
c.317A>G (p.Lys106Arg)
c.213A>G
n.26A>G
c.256A>G
c.173+91A>G
c.24+91A>G (n.24+91A>G)
 dbSNP
16g.2046189T>GCA394295587NTHL1c.2A>C (p.Lys1Thr)
c.293A>C (p.Lys98Thr)
c.248A>C (p.Lys83Thr)
c.317A>C (p.Lys106Thr)
c.213A>C
n.26A>C
c.256A>C
c.173+91A>C
c.24+91A>C (n.24+91A>C)
 COSMIC
16g.2046193delCA276765609NTHL1c.293del (p.Lys98ArgfsTer?)
c.248del (p.Lys83ArgfsTer24)
c.317del (p.Lys106ArgfsTer?)
c.213del
n.26del
c.256del
c.173+91del
c.317del (p.Lys106ArgfsTer24)
c.24+91del (n.24+91del)
c.293del (p.Lys98ArgfsTer24)
 dbSNP
16g.2046190T>ACA394295588NTHL1c.1A>T (p.Lys1Ter)
c.292A>T (p.Lys98Ter)
c.247A>T (p.Lys83Ter)
c.316A>T (p.Lys106Ter)
c.212A>T
n.25A>T
c.255A>T
c.173+90A>T
c.24+90A>T (n.24+90A>T)
16g.2046190T>CCA394295589NTHL1c.1A>G (p.Lys1Glu)
c.292A>G (p.Lys98Glu)
c.247A>G (p.Lys83Glu)
c.316A>G (p.Lys106Glu)
c.212A>G
n.25A>G
c.255A>G
c.173+90A>G
c.24+90A>G (n.24+90A>G)
 COSMIC
16g.2046190T>GCA394295590NTHL1c.1A>C (p.Lys1Gln)
c.292A>C (p.Lys98Gln)
c.247A>C (p.Lys83Gln)
c.316A>C (p.Lys106Gln)
c.212A>C
n.25A>C
c.255A>C
c.173+90A>C
c.24+90A>C (n.24+90A>C)
16g.2046191T>ACA276765610NTHL1c.291A>T (p.Lys97Asn)
c.246A>T (p.Lys82Asn)
c.315A>T (p.Lys105Asn)
c.211A>T
n.24A>T
c.254A>T
c.173+89A>T
c.24+89A>T (n.24+89A>T)
 dbSNP gnomAD v3 gnomAD v4
16g.2046191T>CCA492953244NTHL1c.291A>G (p.Lys97=)
c.246A>G (p.Lys82=)
c.315A>G (p.Lys105=)
c.211A>G
n.24A>G
c.254A>G
c.173+89A>G
c.24+89A>G (n.24+89A>G)
 ClinVar
16g.2046191T>GCA394295602NTHL1c.291A>C (p.Lys97Asn)
c.246A>C (p.Lys82Asn)
c.315A>C (p.Lys105Asn)
c.211A>C
n.24A>C
c.254A>C
c.173+89A>C
c.24+89A>C (n.24+89A>C)
16g.2046191T=CA2201986650NTHL1c.291A= (p.Lys97=)
c.246A= (p.Lys82=)
c.315A= (p.Lys105=)
c.211A=
n.24A=
c.254A=
c.173+89A=
c.24+89A= (n.24+89A=)
16g.2046191_2046194delinsTTTGCA2201986652NTHL1c.288_291delinsCAAA (p.Asn96=)
c.243_246delinsCAAA (p.Asn81=)
c.312_315delinsCAAA (p.Asn104=)
c.208_211delinsCAAA
n.21_24delinsCAAA
c.251_254delinsCAAA
c.173+86_173+89delinsCAAA
c.24+86_24+89delinsCAAA (n.24+86_24+89delinsCAAA)
16g.2046192T>ACA394295607NTHL1c.290A>T (p.Lys97Ile)
c.245A>T (p.Lys82Ile)
c.314A>T (p.Lys105Ile)
c.210A>T
n.23A>T
c.253A>T
c.173+88A>T
c.24+88A>T (n.24+88A>T)
16g.2046192T>CCA394295608NTHL1c.290A>G (p.Lys97Arg)
c.245A>G (p.Lys82Arg)
c.314A>G (p.Lys105Arg)
c.210A>G
n.23A>G
c.253A>G
c.173+88A>G
c.24+88A>G (n.24+88A>G)
 dbSNP gnomAD v2
16g.2046192T>GCA394295609NTHL1c.290A>C (p.Lys97Thr)
c.245A>C (p.Lys82Thr)
c.314A>C (p.Lys105Thr)
c.210A>C
n.23A>C
c.253A>C
c.173+88A>C
c.24+88A>C (n.24+88A>C)
 ClinVar dbSNP
16g.2046192T=CA2201986654NTHL1c.290A= (p.Lys97=)
c.245A= (p.Lys82=)
c.314A= (p.Lys105=)
c.210A=
n.23A=
c.253A=
c.173+88A=
c.24+88A= (n.24+88A=)
16g.2046194_2046196delCA916081753NTHL1c.288_290del (p.Asn96del)
c.243_245del (p.Asn81del)
c.312_314del (p.Asn104del)
c.208_210del
n.21_23del
c.251_253del
c.173+86_173+88del
c.24+86_24+88del (n.24+86_24+88del)
 ClinVar dbSNP gnomAD v4
16g.2046193T>ACA394295614NTHL1c.289A>T (p.Lys97Ter)
c.244A>T (p.Lys82Ter)
c.313A>T (p.Lys105Ter)
c.209A>T
n.22A>T
c.252A>T
c.173+87A>T
c.24+87A>T (n.24+87A>T)
16g.2046193T>CCA394295617NTHL1c.289A>G (p.Lys97Glu)
c.244A>G (p.Lys82Glu)
c.313A>G (p.Lys105Glu)
c.209A>G
n.22A>G
c.252A>G
c.173+87A>G
c.24+87A>G (n.24+87A>G)
 ClinVar
16g.2046193T>GCA394295631NTHL1c.289A>C (p.Lys97Gln)
c.244A>C (p.Lys82Gln)
c.313A>C (p.Lys105Gln)
c.209A>C
n.22A>C
c.252A>C
c.173+87A>C
c.24+87A>C (n.24+87A>C)
16g.2046194G>ACA492953245NTHL1c.288C>T (p.Asn96=)
c.243C>T (p.Asn81=)
c.312C>T (p.Asn104=)
c.208C>T
n.21C>T
c.251C>T
c.173+86C>T
c.24+86C>T (n.24+86C>T)
 ClinVar
16g.2046194G>CCA394295634NTHL1c.288C>G (p.Asn96Lys)
c.243C>G (p.Asn81Lys)
c.312C>G (p.Asn104Lys)
c.208C>G
n.21C>G
c.251C>G
c.173+86C>G
c.24+86C>G (n.24+86C>G)
16g.2046194G>TCA394295633NTHL1c.288C>A (p.Asn96Lys)
c.243C>A (p.Asn81Lys)
c.312C>A (p.Asn104Lys)
c.208C>A
n.21C>A
c.251C>A
c.173+86C>A
c.24+86C>A (n.24+86C>A)
16g.2046195T>ACA394295635NTHL1c.287A>T (p.Asn96Ile)
c.242A>T (p.Asn81Ile)
c.311A>T (p.Asn104Ile)
c.207A>T
n.20A>T
c.250A>T
c.173+85A>T
c.24+85A>T (n.24+85A>T)
16g.2046195T>CCA394295638NTHL1c.287A>G (p.Asn96Ser)
c.242A>G (p.Asn81Ser)
c.311A>G (p.Asn104Ser)
c.207A>G
n.20A>G
c.250A>G
c.173+85A>G
c.24+85A>G (n.24+85A>G)
 ClinVar dbSNP gnomAD v4
16g.2046195T>GCA394295644NTHL1c.287A>C (p.Asn96Thr)
c.242A>C (p.Asn81Thr)
c.311A>C (p.Asn104Thr)
c.207A>C
n.20A>C
c.250A>C
c.173+85A>C
c.24+85A>C (n.24+85A>C)
16g.2046195T=CA2201986657NTHL1c.287A= (p.Asn96=)
c.242A= (p.Asn81=)
c.311A= (p.Asn104=)
c.207A=
n.20A=
c.250A=
c.173+85A=
c.24+85A= (n.24+85A=)
16g.2046196T>ACA394295649NTHL1c.286A>T (p.Asn96Tyr)
c.241A>T (p.Asn81Tyr)
c.310A>T (p.Asn104Tyr)
c.206A>T
n.19A>T
c.249A>T
c.173+84A>T
c.24+84A>T (n.24+84A>T)
16g.2046196T>CCA394295670NTHL1c.286A>G (p.Asn96Asp)
c.241A>G (p.Asn81Asp)
c.310A>G (p.Asn104Asp)
c.206A>G
n.19A>G
c.249A>G
c.173+84A>G
c.24+84A>G (n.24+84A>G)
16g.2046196T>GCA394295675NTHL1c.286A>C (p.Asn96His)
c.241A>C (p.Asn81His)
c.310A>C (p.Asn104His)
c.206A>C
n.19A>C
c.249A>C
c.173+84A>C
c.24+84A>C (n.24+84A>C)
16g.2046197C>ACA394295679NTHL1c.285G>T (p.Arg95Ser)
c.240G>T (p.Arg80Ser)
c.309G>T (p.Arg103Ser)
c.205G>T
n.18G>T
c.248G>T
c.173+83G>T
c.24+83G>T (n.24+83G>T)
 ClinVar
16g.2046197C=CA2201986659NTHL1c.285G= (p.Arg95=)
c.240G= (p.Arg80=)
c.309G= (p.Arg103=)
c.205G=
n.18G=
c.248G=
c.173+83G=
c.24+83G= (n.24+83G=)
16g.2046197C>GCA394295683NTHL1c.285G>C (p.Arg95Ser)
c.240G>C (p.Arg80Ser)
c.309G>C (p.Arg103Ser)
c.205G>C
n.18G>C
c.248G>C
c.173+83G>C
c.24+83G>C (n.24+83G>C)
 dbSNP
16g.2046197C>TCA7828329NTHL1c.285G>A (p.Arg95=)
c.240G>A (p.Arg80=)
c.309G>A (p.Arg103=)
c.205G>A
n.18G>A
c.248G>A
c.173+83G>A
c.24+83G>A (n.24+83G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2046198C>ACA394295689NTHL1c.284G>T (p.Arg95Met)
c.239G>T (p.Arg80Met)
c.308G>T (p.Arg103Met)
c.204G>T
n.17G>T
c.247G>T
c.173+82G>T
c.24+82G>T (n.24+82G>T)
16g.2046198C=CA2201986660NTHL1c.284G= (p.Arg95=)
c.239G= (p.Arg80=)
c.308G= (p.Arg103=)
c.204G=
n.17G=
c.247G=
c.173+82G=
c.24+82G= (n.24+82G=)
16g.2046198C>GCA394295693NTHL1c.284G>C (p.Arg95Thr)
c.239G>C (p.Arg80Thr)
c.308G>C (p.Arg103Thr)
c.204G>C
n.17G>C
c.247G>C
c.173+82G>C
c.24+82G>C (n.24+82G>C)
 dbSNP gnomAD v4
16g.2046198C>TCA394295695NTHL1c.284G>A (p.Arg95Lys)
c.239G>A (p.Arg80Lys)
c.308G>A (p.Arg103Lys)
c.204G>A
n.17G>A
c.247G>A
c.173+82G>A
c.24+82G>A (n.24+82G>A)
 ClinVar dbSNP
16g.2046199T>ACA394295699NTHL1c.283A>T (p.Arg95Trp)
c.238A>T (p.Arg80Trp)
c.307A>T (p.Arg103Trp)
c.203A>T
n.16A>T
c.246A>T
c.173+81A>T
c.24+81A>T (n.24+81A>T)
16g.2046199T>CCA394295701NTHL1c.283A>G (p.Arg95Gly)
c.238A>G (p.Arg80Gly)
c.307A>G (p.Arg103Gly)
c.203A>G
n.16A>G
c.246A>G
c.173+81A>G
c.24+81A>G (n.24+81A>G)
 ClinVar
16g.2046199T>GCA492953246NTHL1c.283A>C (p.Arg95=)
c.238A>C (p.Arg80=)
c.307A>C (p.Arg103=)
c.203A>C
n.16A>C
c.246A>C
c.173+81A>C
c.24+81A>C (n.24+81A>C)
16g.2046200C>ACA394295707NTHL1c.282G>T (p.Met94Ile)
c.237G>T (p.Met79Ile)
c.306G>T (p.Met102Ile)
c.202G>T
n.15G>T
c.245G>T
c.173+80G>T
c.24+80G>T (n.24+80G>T)
16g.2046200C=CA2201986663NTHL1c.282G= (p.Met94=)
c.237G= (p.Met79=)
c.306G= (p.Met102=)
c.202G=
n.15G=
c.245G=
c.173+80G=
c.24+80G= (n.24+80G=)
16g.2046200C>GCA394295709NTHL1c.282G>C (p.Met94Ile)
c.237G>C (p.Met79Ile)
c.306G>C (p.Met102Ile)
c.202G>C
n.15G>C
c.245G>C
c.173+80G>C
c.24+80G>C (n.24+80G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2046200C>TCA394295714NTHL1c.282G>A (p.Met94Ile)
c.237G>A (p.Met79Ile)
c.306G>A (p.Met102Ile)
c.202G>A
n.15G>A
c.245G>A
c.173+80G>A
c.24+80G>A (n.24+80G>A)
 ClinVar dbSNP
16g.2046201A=CA2201986666NTHL1c.281T= (p.Met94=)
c.236T= (p.Met79=)
c.305T= (p.Met102=)
c.201T=
n.14T=
c.244T=
c.173+79T=
c.24+79T= (n.24+79T=)
16g.2046201A>CCA394295716NTHL1c.281T>G (p.Met94Arg)
c.236T>G (p.Met79Arg)
c.305T>G (p.Met102Arg)
c.201T>G
n.14T>G
c.244T>G
c.173+79T>G
c.24+79T>G (n.24+79T>G)
 dbSNP
16g.2046201A>GCA394295718NTHL1c.281T>C (p.Met94Thr)
c.236T>C (p.Met79Thr)
c.305T>C (p.Met102Thr)
c.201T>C
n.14T>C
c.244T>C
c.173+79T>C
c.24+79T>C (n.24+79T>C)
 ClinVar dbSNP
16g.2046201A>TCA394295722NTHL1c.281T>A (p.Met94Lys)
c.236T>A (p.Met79Lys)
c.305T>A (p.Met102Lys)
c.201T>A
n.14T>A
c.244T>A
c.173+79T>A
c.24+79T>A (n.24+79T>A)
16g.2046202T>ACA394295729NTHL1c.280A>T (p.Met94Leu)
c.235A>T (p.Met79Leu)
c.304A>T (p.Met102Leu)
c.200A>T
n.13A>T
c.243A>T
c.173+78A>T
c.24+78A>T (n.24+78A>T)
16g.2046202T>CCA394295734NTHL1c.280A>G (p.Met94Val)
c.235A>G (p.Met79Val)
c.304A>G (p.Met102Val)
c.200A>G
n.13A>G
c.243A>G
c.173+78A>G
c.24+78A>G (n.24+78A>G)
 ClinVar gnomAD v4
16g.2046202T>GCA276765616NTHL1c.280A>C (p.Met94Leu)
c.235A>C (p.Met79Leu)
c.304A>C (p.Met102Leu)
c.200A>C
n.13A>C
c.243A>C
c.173+78A>C
c.24+78A>C (n.24+78A>C)
 dbSNP
16g.2046202T=CA2201986668NTHL1c.280A= (p.Met94=)
c.235A= (p.Met79=)
c.304A= (p.Met102=)
c.200A=
n.13A=
c.243A=
c.173+78A=
c.24+78A= (n.24+78A=)
16g.2046203G>ACA492953247NTHL1c.279C>T (p.Ala93=)
c.234C>T (p.Ala78=)
c.303C>T (p.Ala101=)
c.199C>T
n.12C>T
c.242C>T
c.173+77C>T
c.24+77C>T (n.24+77C>T)
16g.2046203G>CCA492953248NTHL1c.279C>G (p.Ala93=)
c.234C>G (p.Ala78=)
c.303C>G (p.Ala101=)
c.199C>G
n.12C>G
c.242C>G
c.173+77C>G
c.24+77C>G (n.24+77C>G)
16g.2046203G>TCA492953249NTHL1c.279C>A (p.Ala93=)
c.234C>A (p.Ala78=)
c.303C>A (p.Ala101=)
c.199C>A
n.12C>A
c.242C>A
c.173+77C>A
c.24+77C>A (n.24+77C>A)
16g.2046204G>ACA394296784NTHL1c.278C>T (p.Ala93Val)
c.233C>T (p.Ala78Val)
c.302C>T (p.Ala101Val)
c.198C>T
n.11C>T
c.241C>T
c.173+76C>T
c.24+76C>T (n.24+76C>T)
 ClinVar dbSNP gnomAD v4
16g.2046204G>CCA394296754NTHL1c.278C>G (p.Ala93Gly)
c.233C>G (p.Ala78Gly)
c.302C>G (p.Ala101Gly)
c.198C>G
n.11C>G
c.241C>G
c.173+76C>G
c.24+76C>G (n.24+76C>G)
16g.2046204G>TCA394296783NTHL1c.278C>A (p.Ala93Asp)
c.233C>A (p.Ala78Asp)
c.302C>A (p.Ala101Asp)
c.198C>A
n.11C>A
c.241C>A
c.173+76C>A
c.24+76C>A (n.24+76C>A)
16g.2046205C>ACA394296787NTHL1c.277G>T (p.Ala93Ser)
c.232G>T (p.Ala78Ser)
c.301G>T (p.Ala101Ser)
c.197G>T
n.10G>T
c.240G>T
c.173+75G>T
c.24+75G>T (n.24+75G>T)
16g.2046205C=CA2201986670NTHL1c.277G= (p.Ala93=)
c.232G= (p.Ala78=)
c.301G= (p.Ala101=)
c.197G=
n.10G=
c.240G=
c.173+75G=
c.24+75G= (n.24+75G=)
16g.2046205C>GCA394296788NTHL1c.277G>C (p.Ala93Pro)
c.232G>C (p.Ala78Pro)
c.301G>C (p.Ala101Pro)
c.197G>C
n.10G>C
c.240G>C
c.173+75G>C
c.24+75G>C (n.24+75G>C)
16g.2046205C>TCA7828330NTHL1c.277G>A (p.Ala93Thr)
c.232G>A (p.Ala78Thr)
c.301G>A (p.Ala101Thr)
c.197G>A
n.10G>A
c.240G>A
c.173+75G>A
c.24+75G>A (n.24+75G>A)
 ClinVar dbSNP ExAC gnomAD v2
16g.2046206A>CCA492953287NTHL1c.276T>G (p.Arg92=)
c.231T>G (p.Arg77=)
c.300T>G (p.Arg100=)
c.196T>G
n.9T>G
c.239T>G
c.173+74T>G
c.24+74T>G (n.24+74T>G)
 ClinVar
16g.2046206A>GCA492953289NTHL1c.276T>C (p.Arg92=)
c.231T>C (p.Arg77=)
c.300T>C (p.Arg100=)
c.196T>C
n.9T>C
c.239T>C
c.173+74T>C
c.24+74T>C (n.24+74T>C)
16g.2046206A>TCA492953288NTHL1c.276T>A (p.Arg92=)
c.231T>A (p.Arg77=)
c.300T>A (p.Arg100=)
c.196T>A
n.9T>A
c.239T>A
c.173+74T>A
c.24+74T>A (n.24+74T>A)
16g.2046207C>ACA394296793NTHL1c.275G>T (p.Arg92Leu)
c.230G>T (p.Arg77Leu)
c.299G>T (p.Arg100Leu)
c.195G>T
n.8G>T
c.238G>T
c.173+73G>T
c.24+73G>T (n.24+73G>T)
 ClinVar dbSNP
16g.2046207C=CA2201986674NTHL1c.275G= (p.Arg92=)
c.230G= (p.Arg77=)
c.299G= (p.Arg100=)
c.195G=
n.8G=
c.238G=
c.173+73G=
c.24+73G= (n.24+73G=)
16g.2046207C>GCA394296795NTHL1c.275G>C (p.Arg92Pro)
c.230G>C (p.Arg77Pro)
c.299G>C (p.Arg100Pro)
c.195G>C
n.8G>C
c.238G>C
c.173+73G>C
c.24+73G>C (n.24+73G>C)
 ClinVar dbSNP
16g.2046207C>TCA7828331NTHL1c.275G>A (p.Arg92His)
c.230G>A (p.Arg77His)
c.299G>A (p.Arg100His)
c.195G>A
n.8G>A
c.238G>A
c.173+73G>A
c.24+73G>A (n.24+73G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2046208G>ACA7828332NTHL1c.274C>T (p.Arg92Cys)
c.229C>T (p.Arg77Cys)
c.298C>T (p.Arg100Cys)
c.194C>T
n.7C>T
c.237C>T
c.173+72C>T
c.24+72C>T (n.24+72C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2046208G>CCA394296802NTHL1c.274C>G (p.Arg92Gly)
c.229C>G (p.Arg77Gly)
c.298C>G (p.Arg100Gly)
c.194C>G
n.7C>G
c.237C>G
c.173+72C>G
c.24+72C>G (n.24+72C>G)
 dbSNP
16g.2046208G=CA2201986678NTHL1c.274C= (p.Arg92=)
c.229C= (p.Arg77=)
c.298C= (p.Arg100=)
c.194C=
n.7C=
c.237C=
c.173+72C=
c.24+72C= (n.24+72C=)
16g.2046208G>TCA394296807NTHL1c.274C>A (p.Arg92Ser)
c.229C>A (p.Arg77Ser)
c.298C>A (p.Arg100Ser)
c.194C>A
n.7C>A
c.237C>A
c.173+72C>A
c.24+72C>A (n.24+72C>A)
16g.2046209G>ACA7828333NTHL1c.273C>T (p.Ile91=)
c.228C>T (p.Ile76=)
c.297C>T (p.Ile99=)
c.193C>T
n.6C>T
c.236C>T
c.173+71C>T
c.24+71C>T (n.24+71C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2046209G>CCA394296808NTHL1c.273C>G (p.Ile91Met)
c.228C>G (p.Ile76Met)
c.297C>G (p.Ile99Met)
c.193C>G
n.6C>G
c.236C>G
c.173+71C>G
c.24+71C>G (n.24+71C>G)
 dbSNP
16g.2046209G=CA2201986682NTHL1c.273C= (p.Ile91=)
c.228C= (p.Ile76=)
c.297C= (p.Ile99=)
c.193C=
n.6C=
c.236C=
c.173+71C=
c.24+71C= (n.24+71C=)
16g.2046209G>TCA492953291NTHL1c.273C>A (p.Ile91=)
c.228C>A (p.Ile76=)
c.297C>A (p.Ile99=)
c.193C>A
n.6C>A
c.236C>A
c.173+71C>A
c.24+71C>A (n.24+71C>A)
16g.2046210A>CCA394296811NTHL1c.272T>G (p.Ile91Ser)
c.227T>G (p.Ile76Ser)
c.296T>G (p.Ile99Ser)
c.192T>G
n.5T>G
c.235T>G
c.173+70T>G
c.24+70T>G (n.24+70T>G)
16g.2046210A>GCA394296844NTHL1c.272T>C (p.Ile91Thr)
c.227T>C (p.Ile76Thr)
c.296T>C (p.Ile99Thr)
c.192T>C
n.5T>C
c.235T>C
c.173+70T>C
c.24+70T>C (n.24+70T>C)
16g.2046210A>TCA394296823NTHL1c.272T>A (p.Ile91Asn)
c.227T>A (p.Ile76Asn)
c.296T>A (p.Ile99Asn)
c.192T>A
n.5T>A
c.235T>A
c.173+70T>A
c.24+70T>A (n.24+70T>A)
 dbSNP gnomAD v4
16g.2046211T>ACA394296852NTHL1c.271A>T (p.Ile91Phe)
c.226A>T (p.Ile76Phe)
c.295A>T (p.Ile99Phe)
c.191A>T
n.4A>T
c.234A>T
c.173+69A>T
c.24+69A>T (n.24+69A>T)
16g.2046211T>CCA394296854NTHL1c.271A>G (p.Ile91Val)
c.226A>G (p.Ile76Val)
c.295A>G (p.Ile99Val)
c.191A>G
n.4A>G
c.234A>G
c.173+69A>G
c.24+69A>G (n.24+69A>G)
 ClinVar dbSNP gnomAD v4
16g.2046211T>GCA394296855NTHL1c.271A>C (p.Ile91Leu)
c.226A>C (p.Ile76Leu)
c.295A>C (p.Ile99Leu)
c.191A>C
n.4A>C
c.234A>C
c.173+69A>C
c.24+69A>C (n.24+69A>C)
16g.2046212G>ACA492953293NTHL1c.270C>T (p.Asn90=)
c.225C>T (p.Asn75=)
c.294C>T (p.Asn98=)
c.190C>T
n.3C>T
c.233C>T
c.173+68C>T
c.24+68C>T (n.24+68C>T)
 ClinVar
16g.2046212G>CCA394296863NTHL1c.270C>G (p.Asn90Lys)
c.225C>G (p.Asn75Lys)
c.294C>G (p.Asn98Lys)
c.190C>G
n.3C>G
c.233C>G
c.173+68C>G
c.24+68C>G (n.24+68C>G)
16g.2046212G>TCA394296894NTHL1c.270C>A (p.Asn90Lys)
c.225C>A (p.Asn75Lys)
c.294C>A (p.Asn98Lys)
c.190C>A
n.3C>A
c.233C>A
c.173+68C>A
c.24+68C>A (n.24+68C>A)
16g.2046213T>ACA394296898NTHL1c.269A>T (p.Asn90Ile)
c.224A>T (p.Asn75Ile)
c.293A>T (p.Asn98Ile)
c.189A>T
n.2A>T
c.232A>T
c.173+67A>T
c.24+67A>T (n.24+67A>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2046213T>CCA394296901NTHL1c.269A>G (p.Asn90Ser)
c.224A>G (p.Asn75Ser)
c.293A>G (p.Asn98Ser)
c.189A>G
n.2A>G
c.232A>G
c.173+67A>G
c.24+67A>G (n.24+67A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2046213T>GCA394296903NTHL1c.269A>C (p.Asn90Thr)
c.224A>C (p.Asn75Thr)
c.293A>C (p.Asn98Thr)
c.189A>C
n.2A>C
c.232A>C
c.173+67A>C
c.24+67A>C (n.24+67A>C)
16g.2046213T=CA2201986687NTHL1c.269A= (p.Asn90=)
c.224A= (p.Asn75=)
c.293A= (p.Asn98=)
c.189A=
n.2A=
c.232A=
c.173+67A=
c.24+67A= (n.24+67A=)
16g.2046214T>ACA394296933NTHL1c.268A>T (p.Asn90Tyr)
c.223A>T (p.Asn75Tyr)
c.292A>T (p.Asn98Tyr)
c.188A>T
n.1A>T
c.231A>T
c.173+66A>T
c.24+66A>T (n.24+66A>T)
16g.2046214T>CCA7828334NTHL1c.268A>G (p.Asn90Asp)
c.223A>G (p.Asn75Asp)
c.292A>G (p.Asn98Asp)
c.188A>G
n.1A>G
c.231A>G
c.173+66A>G
c.24+66A>G (n.24+66A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2046214T>GCA394296970NTHL1c.268A>C (p.Asn90His)
c.223A>C (p.Asn75His)
c.292A>C (p.Asn98His)
c.188A>C
n.1A>C
c.231A>C
c.173+66A>C
c.24+66A>C (n.24+66A>C)
16g.2046214T=CA2201986692NTHL1c.268A= (p.Asn90=)
c.223A= (p.Asn75=)
c.292A= (p.Asn98=)
c.188A=
n.1A=
c.231A=
c.173+66A=
c.24+66A= (n.24+66A=)
16g.2046215G>ACA492953295NTHL1c.267C>T (p.Val89=)
c.222C>T (p.Val74=)
c.291C>T (p.Val97=)
c.187C>T
c.230C>T
c.173+65C>T
c.24+65C>T (n.24+65C>T)
16g.2046215G>CCA492953296NTHL1c.267C>G (p.Val89=)
c.222C>G (p.Val74=)
c.291C>G (p.Val97=)
c.187C>G
c.230C>G
c.173+65C>G
c.24+65C>G (n.24+65C>G)
 ClinVar
16g.2046215G>TCA492953297NTHL1c.267C>A (p.Val89=)
c.222C>A (p.Val74=)
c.291C>A (p.Val97=)
c.187C>A
c.230C>A
c.173+65C>A
c.24+65C>A (n.24+65C>A)
16g.2046216A=CA2201986695NTHL1c.266T= (p.Val89=)
c.221T= (p.Val74=)
c.290T= (p.Val97=)
c.186T=
c.229T=
c.173+64T=
c.24+64T= (n.24+64T=)
16g.2046216A>CCA394296972NTHL1c.266T>G (p.Val89Gly)
c.221T>G (p.Val74Gly)
c.290T>G (p.Val97Gly)
c.186T>G
c.229T>G
c.173+64T>G
c.24+64T>G (n.24+64T>G)
 dbSNP
16g.2046216A>GCA394296976NTHL1c.266T>C (p.Val89Ala)
c.221T>C (p.Val74Ala)
c.290T>C (p.Val97Ala)
c.186T>C
c.229T>C
c.173+64T>C
c.24+64T>C (n.24+64T>C)
 ClinVar
16g.2046216A>TCA394296971NTHL1c.266T>A (p.Val89Asp)
c.221T>A (p.Val74Asp)
c.290T>A (p.Val97Asp)
c.186T>A
c.229T>A
c.173+64T>A
c.24+64T>A (n.24+64T>A)
 ClinVar dbSNP gnomAD v4
16g.2046217C>ACA394296980NTHL1c.265G>T (p.Val89Phe)
c.220G>T (p.Val74Phe)
c.289G>T (p.Val97Phe)
c.185G>T
c.228G>T
c.173+63G>T
c.24+63G>T (n.24+63G>T)
16g.2046217C>GCA394296981NTHL1c.265G>C (p.Val89Leu)
c.220G>C (p.Val74Leu)
c.289G>C (p.Val97Leu)
c.185G>C
c.228G>C
c.173+63G>C
c.24+63G>C (n.24+63G>C)
16g.2046217C>TCA394296982NTHL1c.265G>A (p.Val89Ile)
c.220G>A (p.Val74Ile)
c.289G>A (p.Val97Ile)
c.185G>A
c.228G>A
c.173+63G>A
c.24+63G>A (n.24+63G>A)
16g.2046218dupCA2499223262NTHL1c.265dup (p.Val89GlyfsTer20)
c.220dup (p.Val74GlyfsTer20)
c.289dup (p.Val97GlyfsTer20)
c.185dup
c.228dup
c.173+63dup
c.24+63dup (n.24+63dup)
 ClinVar dbSNP
16g.2046218C>ACA276765646NTHL1c.264G>T (p.Leu88=)
c.219G>T (p.Leu73=)
c.288G>T (p.Leu96=)
c.184G>T
c.227G>T
c.173+62G>T
c.24+62G>T (n.24+62G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2046218C=CA2201986698NTHL1c.264G= (p.Leu88=)
c.219G= (p.Leu73=)
c.288G= (p.Leu96=)
c.184G=
c.227G=
c.173+62G=
c.24+62G= (n.24+62G=)
16g.2046218C>GCA492953300NTHL1c.264G>C (p.Leu88=)
c.219G>C (p.Leu73=)
c.288G>C (p.Leu96=)
c.184G>C
c.227G>C
c.173+62G>C
c.24+62G>C (n.24+62G>C)
16g.2046218C>TCA492953301NTHL1c.264G>A (p.Leu88=)
c.219G>A (p.Leu73=)
c.288G>A (p.Leu96=)
c.184G>A
c.227G>A
c.173+62G>A
c.24+62G>A (n.24+62G>A)
 ClinVar dbSNP
16g.2046219delCA2631108775NTHL1c.263del (p.Leu88ArgfsTer7)
c.218del (p.Leu73ArgfsTer7)
c.287del (p.Leu96ArgfsTer7)
c.183del
c.226del
c.173+61del
c.24+61del (n.24+61del)
 gnomAD v4
16g.2046219A>CCA394296986NTHL1c.263T>G (p.Leu88Arg)
c.218T>G (p.Leu73Arg)
c.287T>G (p.Leu96Arg)
c.183T>G
c.226T>G
c.173+61T>G
c.24+61T>G (n.24+61T>G)
16g.2046219A>GCA394296994NTHL1c.263T>C (p.Leu88Pro)
c.218T>C (p.Leu73Pro)
c.287T>C (p.Leu96Pro)
c.183T>C
c.226T>C
c.173+61T>C
c.24+61T>C (n.24+61T>C)
16g.2046219A>TCA394296998NTHL1c.263T>A (p.Leu88Gln)
c.218T>A (p.Leu73Gln)
c.287T>A (p.Leu96Gln)
c.183T>A
c.226T>A
c.173+61T>A
c.24+61T>A (n.24+61T>A)
16g.2046220G>ACA492953302NTHL1c.262C>T (p.Leu88=)
c.217C>T (p.Leu73=)
c.286C>T (p.Leu96=)
c.182C>T
c.225C>T
c.173+60C>T
c.24+60C>T (n.24+60C>T)
16g.2046220G>CCA394297010NTHL1c.262C>G (p.Leu88Val)
c.217C>G (p.Leu73Val)
c.286C>G (p.Leu96Val)
c.182C>G
c.225C>G
c.173+60C>G
c.24+60C>G (n.24+60C>G)
 ClinVar
16g.2046220G=CA2201986704NTHL1c.262C= (p.Leu88=)
c.217C= (p.Leu73=)
c.286C= (p.Leu96=)
c.182C=
c.225C=
c.173+60C=
c.24+60C= (n.24+60C=)
16g.2046220G>TCA394297012NTHL1c.262C>A (p.Leu88Met)
c.217C>A (p.Leu73Met)
c.286C>A (p.Leu96Met)
c.182C>A
c.225C>A
c.173+60C>A
c.24+60C>A (n.24+60C>A)
 ClinVar dbSNP
16g.2046221C>ACA394297016NTHL1c.261G>T (p.Gln87His)
c.216G>T (p.Gln72His)
c.285G>T (p.Gln95His)
c.181G>T
c.224G>T
c.173+59G>T
c.24+59G>T (n.24+59G>T)
16g.2046221C>GCA394297042NTHL1c.261G>C (p.Gln87His)
c.216G>C (p.Gln72His)
c.285G>C (p.Gln95His)
c.181G>C
c.224G>C
c.173+59G>C
c.24+59G>C (n.24+59G>C)
 ClinVar dbSNP gnomAD v4
16g.2046221C>TCA492953303NTHL1c.261G>A (p.Gln87=)
c.216G>A (p.Gln72=)
c.285G>A (p.Gln95=)
c.181G>A
c.224G>A
c.173+59G>A
c.24+59G>A (n.24+59G>A)
 ClinVar gnomAD v4
16g.2046222T>ACA394297050NTHL1c.260A>T (p.Gln87Leu)
c.215A>T (p.Gln72Leu)
c.284A>T (p.Gln95Leu)
c.180A>T
c.223A>T
c.173+58A>T
c.24+58A>T (n.24+58A>T)
16g.2046222T>CCA394297053NTHL1c.260A>G (p.Gln87Arg)
c.215A>G (p.Gln72Arg)
c.284A>G (p.Gln95Arg)
c.180A>G
c.223A>G
c.173+58A>G
c.24+58A>G (n.24+58A>G)
16g.2046222T>GCA394297057NTHL1c.260A>C (p.Gln87Pro)
c.215A>C (p.Gln72Pro)
c.284A>C (p.Gln95Pro)
c.180A>C
c.223A>C
c.173+58A>C
c.24+58A>C (n.24+58A>C)
 gnomAD v4
16g.2046223G>ACA7828335NTHL1c.259C>T (p.Gln87Ter)
c.214C>T (p.Gln72Ter)
c.283C>T (p.Gln95Ter)
c.179C>T
c.222C>T
c.173+57C>T
c.24+57C>T (n.24+57C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2046223G>CCA394297061NTHL1c.259C>G (p.Gln87Glu)
c.214C>G (p.Gln72Glu)
c.283C>G (p.Gln95Glu)
c.179C>G
c.222C>G
c.173+57C>G
c.24+57C>G (n.24+57C>G)
 ClinVar dbSNP gnomAD v4
16g.2046223G=CA2201986707NTHL1c.259C= (p.Gln87=)
c.214C= (p.Gln72=)
c.283C= (p.Gln95=)
c.179C=
c.222C=
c.173+57C=
c.24+57C= (n.24+57C=)
16g.2046223G>TCA394297060NTHL1c.259C>A (p.Gln87Lys)
c.214C>A (p.Gln72Lys)
c.283C>A (p.Gln95Lys)
c.179C>A
c.222C>A
c.173+57C>A
c.24+57C>A (n.24+57C>A)
16g.2046224T>ACA394297071NTHL1c.258A>T (p.Gln86His)
c.213A>T (p.Gln71His)
c.282A>T (p.Gln94His)
c.178A>T
c.221A>T
c.173+56A>T
c.24+56A>T (n.24+56A>T)
16g.2046224T>CCA492953305NTHL1c.258A>G (p.Gln86=)
c.213A>G (p.Gln71=)
c.282A>G (p.Gln94=)
c.178A>G
c.221A>G
c.173+56A>G
c.24+56A>G (n.24+56A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2046224T>GCA394297078NTHL1c.258A>C (p.Gln86His)
c.213A>C (p.Gln71His)
c.282A>C (p.Gln94His)
c.178A>C
c.221A>C
c.173+56A>C
c.24+56A>C (n.24+56A>C)
 gnomAD v4
16g.2046224T=CA2201986712NTHL1c.258A= (p.Gln86=)
c.213A= (p.Gln71=)
c.282A= (p.Gln94=)
c.178A=
c.221A=
c.173+56A=
c.24+56A= (n.24+56A=)
16g.2046225T>ACA394297088NTHL1c.257A>T (p.Gln86Leu)
c.212A>T (p.Gln71Leu)
c.281A>T (p.Gln94Leu)
c.177A>T
c.220A>T
c.173+55A>T
c.24+55A>T (n.24+55A>T)
 ClinVar dbSNP
16g.2046225T>CCA276765653NTHL1c.257A>G (p.Gln86Arg)
c.212A>G (p.Gln71Arg)
c.281A>G (p.Gln94Arg)
c.177A>G
c.220A>G
c.173+55A>G
c.24+55A>G (n.24+55A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2046225T>GCA394297093NTHL1c.257A>C (p.Gln86Pro)
c.212A>C (p.Gln71Pro)
c.281A>C (p.Gln94Pro)
c.177A>C
c.220A>C
c.173+55A>C
c.24+55A>C (n.24+55A>C)
 ClinVar dbSNP
16g.2046225T=CA2201986715NTHL1c.257A= (p.Gln86=)
c.212A= (p.Gln71=)
c.281A= (p.Gln94=)
c.177A=
c.220A=
c.173+55A=
c.24+55A= (n.24+55A=)
16g.2046228_2046230delCA2575876709NTHL1c.255_257del (p.Gln86del)
c.210_212del (p.Gln71del)
c.279_281del (p.Gln94del)
c.175_177del
c.218_220del
c.173+53_173+55del
c.24+53_24+55del (n.24+53_24+55del)
16g.2046226G>ACA394297097NTHL1c.256C>T (p.Gln86Ter)
c.211C>T (p.Gln71Ter)
c.280C>T (p.Gln94Ter)
c.176C>T
c.219C>T
c.173+54C>T
c.24+54C>T (n.24+54C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2046226G>CCA394297098NTHL1c.256C>G (p.Gln86Glu)
c.211C>G (p.Gln71Glu)
c.280C>G (p.Gln94Glu)
c.176C>G
c.219C>G
c.173+54C>G
c.24+54C>G (n.24+54C>G)
 dbSNP gnomAD v4
16g.2046226G=CA2201986719NTHL1c.256C= (p.Gln86=)
c.211C= (p.Gln71=)
c.280C= (p.Gln94=)
c.176C=
c.219C=
c.173+54C=
c.24+54C= (n.24+54C=)
16g.2046226G>TCA394297099NTHL1c.256C>A (p.Gln86Lys)
c.211C>A (p.Gln71Lys)
c.280C>A (p.Gln94Lys)
c.176C>A
c.219C>A
c.173+54C>A
c.24+54C>A (n.24+54C>A)
 dbSNP
16g.2046227C>ACA394297100NTHL1c.255G>T (p.Gln85His)
c.210G>T (p.Gln70His)
c.279G>T (p.Gln93His)
c.175G>T
c.218G>T
c.173+53G>T
c.24+53G>T (n.24+53G>T)
 ClinVar gnomAD v4
16g.2046227C>GCA394297103NTHL1c.255G>C (p.Gln85His)
c.210G>C (p.Gln70His)
c.279G>C (p.Gln93His)
c.175G>C
c.218G>C
c.173+53G>C
c.24+53G>C (n.24+53G>C)
16g.2046227C>TCA492953307NTHL1c.255G>A (p.Gln85=)
c.210G>A (p.Gln70=)
c.279G>A (p.Gln93=)
c.175G>A
c.218G>A
c.173+53G>A
c.24+53G>A (n.24+53G>A)
 ClinVar dbSNP
16g.2046229_2046258delCA2631108820NTHL1c.226_255del (p.Val76_Gln85del)
c.181_210del (p.Val61_Gln70del)
c.250_279del (p.Val84_Gln93del)
c.146_175del
c.189_218del
c.173+24_173+53del
c.24+24_24+53del (n.24+24_24+53del)
 gnomAD v4
16g.2046228T>ACA7828336NTHL1c.254A>T (p.Gln85Leu)
c.209A>T (p.Gln70Leu)
c.278A>T (p.Gln93Leu)
c.174A>T
c.217A>T
c.173+52A>T
c.24+52A>T (n.24+52A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2046228T>CCA394297111NTHL1c.254A>G (p.Gln85Arg)
c.209A>G (p.Gln70Arg)
c.278A>G (p.Gln93Arg)
c.174A>G
c.217A>G
c.173+52A>G
c.24+52A>G (n.24+52A>G)
16g.2046228T>GCA394297114NTHL1c.254A>C (p.Gln85Pro)
c.209A>C (p.Gln70Pro)
c.278A>C (p.Gln93Pro)
c.174A>C
c.217A>C
c.173+52A>C
c.24+52A>C (n.24+52A>C)
16g.2046228T=CA2201986723NTHL1c.254A= (p.Gln85=)
c.209A= (p.Gln70=)
c.278A= (p.Gln93=)
c.174A=
c.217A=
c.173+52A=
c.24+52A= (n.24+52A=)
16g.2046229G>ACA394297122NTHL1c.253C>T (p.Gln85Ter)
c.208C>T (p.Gln70Ter)
c.277C>T (p.Gln93Ter)
c.173C>T
c.216C>T
c.173+51C>T
c.24+51C>T (n.24+51C>T)
 dbSNP
16g.2046229G>CCA394297120NTHL1c.253C>G (p.Gln85Glu)
c.208C>G (p.Gln70Glu)
c.277C>G (p.Gln93Glu)
c.173C>G
c.216C>G
c.173+51C>G
c.24+51C>G (n.24+51C>G)
16g.2046229G>TCA394297117NTHL1c.253C>A (p.Gln85Lys)
c.208C>A (p.Gln70Lys)
c.277C>A (p.Gln93Lys)
c.173C>A
c.216C>A
c.173+51C>A
c.24+51C>A (n.24+51C>A)
16g.2046230C>ACA394297125NTHL1c.252G>T (p.Trp84Cys)
c.207G>T (p.Trp69Cys)
c.276G>T (p.Trp92Cys)
c.172G>T
c.215G>T
c.173+50G>T
c.24+50G>T (n.24+50G>T)
16g.2046230C=CA2201986728NTHL1c.252G= (p.Trp84=)
c.207G= (p.Trp69=)
c.276G= (p.Trp92=)
c.172G=
c.215G=
c.173+50G=
c.24+50G= (n.24+50G=)
16g.2046230C>GCA7828337NTHL1c.252G>C (p.Trp84Cys)
c.207G>C (p.Trp69Cys)
c.276G>C (p.Trp92Cys)
c.172G>C
c.215G>C
c.173+50G>C
c.24+50G>C (n.24+50G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2046230C>TCA394297128NTHL1c.252G>A (p.Trp84Ter)
c.207G>A (p.Trp69Ter)
c.276G>A (p.Trp92Ter)
c.172G>A
c.215G>A
c.173+50G>A
c.24+50G>A (n.24+50G>A)
 ClinVar
16g.2046231C>ACA394297133NTHL1c.251G>T (p.Trp84Leu)
c.206G>T (p.Trp69Leu)
c.275G>T (p.Trp92Leu)
c.171G>T
c.214G>T
c.173+49G>T
c.24+49G>T (n.24+49G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2046231C=CA2201986733NTHL1c.251G= (p.Trp84=)
c.206G= (p.Trp69=)
c.275G= (p.Trp92=)
c.171G=
c.214G=
c.173+49G=
c.24+49G= (n.24+49G=)
16g.2046231C>GCA394297134NTHL1c.251G>C (p.Trp84Ser)
c.206G>C (p.Trp69Ser)
c.275G>C (p.Trp92Ser)
c.171G>C
c.214G>C
c.173+49G>C
c.24+49G>C (n.24+49G>C)
16g.2046231C>TCA394297135NTHL1c.251G>A (p.Trp84Ter)
c.206G>A (p.Trp69Ter)
c.275G>A (p.Trp92Ter)
c.171G>A
c.214G>A
c.173+49G>A
c.24+49G>A (n.24+49G>A)
16g.2046232A>CCA394297136NTHL1c.250T>G (p.Trp84Gly)
c.205T>G (p.Trp69Gly)
c.274T>G (p.Trp92Gly)
c.170T>G
c.213T>G
c.173+48T>G
c.24+48T>G (n.24+48T>G)
16g.2046232A>GCA394297138NTHL1c.250T>C (p.Trp84Arg)
c.205T>C (p.Trp69Arg)
c.274T>C (p.Trp92Arg)
c.170T>C
c.213T>C
c.173+48T>C
c.24+48T>C (n.24+48T>C)
16g.2046232A>TCA394297143NTHL1c.250T>A (p.Trp84Arg)
c.205T>A (p.Trp69Arg)
c.274T>A (p.Trp92Arg)
c.170T>A
c.213T>A
c.173+48T>A
c.24+48T>A (n.24+48T>A)
16g.2046233G>ACA492953311NTHL1c.249C>T (p.Asp83=)
c.204C>T (p.Asp68=)
c.273C>T (p.Asp91=)
c.169C>T
c.212C>T
c.173+47C>T
c.24+47C>T (n.24+47C>T)
 ClinVar dbSNP gnomAD v4
16g.2046233G>CCA394297147NTHL1c.249C>G (p.Asp83Glu)
c.204C>G (p.Asp68Glu)
c.273C>G (p.Asp91Glu)
c.169C>G
c.212C>G
c.173+47C>G
c.24+47C>G (n.24+47C>G)
 ClinVar dbSNP
16g.2046233G=CA2201986739NTHL1c.249C= (p.Asp83=)
c.204C= (p.Asp68=)
c.273C= (p.Asp91=)
c.169C=
c.212C=
c.173+47C=
c.24+47C= (n.24+47C=)
16g.2046233G>TCA394297149NTHL1c.249C>A (p.Asp83Glu)
c.204C>A (p.Asp68Glu)
c.273C>A (p.Asp91Glu)
c.169C>A
c.212C>A
c.173+47C>A
c.24+47C>A (n.24+47C>A)
16g.2046233_2046242delinsGTCCTGGGGCCA2201986738NTHL1c.240_249delinsGCCCCAGGAC (p.Glu80=)
c.195_204delinsGCCCCAGGAC (p.Glu65=)
c.264_273delinsGCCCCAGGAC (p.Glu88=)
c.160_169delinsGCCCCAGGAC
c.203_212delinsGCCCCAGGAC
c.173+38_173+47delinsGCCCCAGGAC
c.24+38_24+47delinsGCCCCAGGAC (n.24+38_24+47delinsGCCCCAGGAC)
16g.2046234T>ACA394297153NTHL1c.248A>T (p.Asp83Val)
c.203A>T (p.Asp68Val)
c.272A>T (p.Asp91Val)
c.168A>T
c.211A>T
c.173+46A>T
c.24+46A>T (n.24+46A>T)
16g.2046234T>CCA394297154NTHL1c.248A>G (p.Asp83Gly)
c.203A>G (p.Asp68Gly)
c.272A>G (p.Asp91Gly)
c.168A>G
c.211A>G
c.173+46A>G
c.24+46A>G (n.24+46A>G)
 ClinVar
16g.2046234T>GCA394297155NTHL1c.248A>C (p.Asp83Ala)
c.203A>C (p.Asp68Ala)
c.272A>C (p.Asp91Ala)
c.168A>C
c.211A>C
c.173+46A>C
c.24+46A>C (n.24+46A>C)
16g.2046237_2046245delCA620704675NTHL1c.240_248del (p.Glu80_Gln82del)
c.195_203del (p.Glu65_Gln67del)
c.264_272del (p.Glu88_Gln90del)
c.160_168del
c.203_211del
c.173+38_173+46del
c.24+38_24+46del (n.24+38_24+46del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2046235C>ACA394297156NTHL1c.247G>T (p.Asp83Tyr)
c.202G>T (p.Asp68Tyr)
c.271G>T (p.Asp91Tyr)
c.167G>T
c.210G>T
c.173+45G>T
c.24+45G>T (n.24+45G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2046235C=CA2201986748NTHL1c.247G= (p.Asp83=)
c.202G= (p.Asp68=)
c.271G= (p.Asp91=)
c.167G=
c.210G=
c.173+45G=
c.24+45G= (n.24+45G=)
16g.2046235C>GCA394297158NTHL1c.247G>C (p.Asp83His)
c.202G>C (p.Asp68His)
c.271G>C (p.Asp91His)
c.167G>C
c.210G>C
c.173+45G>C
c.24+45G>C (n.24+45G>C)
16g.2046235C>TCA394297164NTHL1c.247G>A (p.Asp83Asn)
c.202G>A (p.Asp68Asn)
c.271G>A (p.Asp91Asn)
c.167G>A
c.210G>A
c.173+45G>A
c.24+45G>A (n.24+45G>A)
16g.2046235_2046236delinsATCA915946197NTHL1c.246_247delinsAT (p.Asp83Tyr)
c.201_202delinsAT (p.Asp68Tyr)
c.270_271delinsAT (p.Asp91Tyr)
c.166_167delinsAT
c.209_210delinsAT
c.173+44_173+45delinsAT
c.24+44_24+45delinsAT (n.24+44_24+45delinsAT)
 ClinVar dbSNP
16g.2046235_2046236delinsCCCA2201986746NTHL1c.246_247delinsGG (p.Gln82=)
c.201_202delinsGG (p.Gln67=)
c.270_271delinsGG (p.Gln90=)
c.166_167delinsGG
c.209_210delinsGG
c.173+44_173+45delinsGG
c.24+44_24+45delinsGG (n.24+44_24+45delinsGG)
16g.2046236delCA2573151820NTHL1c.247del (p.Asp83ThrfsTer12)
c.202del (p.Asp68ThrfsTer12)
c.271del (p.Asp91ThrfsTer12)
c.167del
c.210del
c.173+45del
c.24+45del (n.24+45del)
 ClinVar dbSNP
16g.2046236C>ACA394297169NTHL1c.246G>T (p.Gln82His)
c.201G>T (p.Gln67His)
c.270G>T (p.Gln90His)
c.166G>T
c.209G>T
c.173+44G>T
c.24+44G>T (n.24+44G>T)
16g.2046236C=CA2201986753NTHL1c.246G= (p.Gln82=)
c.201G= (p.Gln67=)
c.270G= (p.Gln90=)
c.166G=
c.209G=
c.173+44G=
c.24+44G= (n.24+44G=)
16g.2046236C>GCA394297168NTHL1c.246G>C (p.Gln82His)
c.201G>C (p.Gln67His)
c.270G>C (p.Gln90His)
c.166G>C
c.209G>C
c.173+44G>C
c.24+44G>C (n.24+44G>C)
16g.2046236C>TCA492953313NTHL1c.246G>A (p.Gln82=)
c.201G>A (p.Gln67=)
c.270G>A (p.Gln90=)
c.166G>A
c.209G>A
c.173+44G>A
c.24+44G>A (n.24+44G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2046237T>ACA394297171NTHL1c.245A>T (p.Gln82Leu)
c.200A>T (p.Gln67Leu)
c.269A>T (p.Gln90Leu)
c.165A>T
c.208A>T
c.173+43A>T
c.24+43A>T (n.24+43A>T)
16g.2046237T>CCA394297172NTHL1c.245A>G (p.Gln82Arg)
c.200A>G (p.Gln67Arg)
c.269A>G (p.Gln90Arg)
c.165A>G
c.208A>G
c.173+43A>G
c.24+43A>G (n.24+43A>G)
 ClinVar dbSNP
16g.2046237T>GCA394297176NTHL1c.245A>C (p.Gln82Pro)
c.200A>C (p.Gln67Pro)
c.269A>C (p.Gln90Pro)
c.165A>C
c.208A>C
c.173+43A>C
c.24+43A>C (n.24+43A>C)
16g.2046238G>ACA200196NTHL1c.244C>T (p.Gln82Ter)
c.199C>T (p.Gln67Ter)
c.268C>T (p.Gln90Ter)
c.164C>T
c.207C>T
c.173+42C>T
c.24+42C>T (n.24+42C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2046238G>CCA394297181NTHL1c.244C>G (p.Gln82Glu)
c.199C>G (p.Gln67Glu)
c.268C>G (p.Gln90Glu)
c.164C>G
c.207C>G
c.173+42C>G
c.24+42C>G (n.24+42C>G)
16g.2046238G=CA2201986757NTHL1c.244C= (p.Gln82=)
c.199C= (p.Gln67=)
c.268C= (p.Gln90=)
c.164C=
c.207C=
c.173+42C=
c.24+42C= (n.24+42C=)
16g.2046238G>TCA394297184NTHL1c.244C>A (p.Gln82Lys)
c.199C>A (p.Gln67Lys)
c.268C>A (p.Gln90Lys)
c.164C>A
c.207C>A
c.173+42C>A
c.24+42C>A (n.24+42C>A)
16g.2046239G>ACA492953316NTHL1c.243C>T (p.Pro81=)
c.198C>T (p.Pro66=)
c.267C>T (p.Pro89=)
c.163C>T
c.206C>T
c.173+41C>T
c.24+41C>T (n.24+41C>T)
 gnomAD v4
16g.2046239G>CCA492953315NTHL1c.243C>G (p.Pro81=)
c.198C>G (p.Pro66=)
c.267C>G (p.Pro89=)
c.163C>G
c.206C>G
c.173+41C>G
c.24+41C>G (n.24+41C>G)
16g.2046239G>TCA492953314NTHL1c.243C>A (p.Pro81=)
c.198C>A (p.Pro66=)
c.267C>A (p.Pro89=)
c.163C>A
c.206C>A
c.173+41C>A
c.24+41C>A (n.24+41C>A)
16g.2046240G>ACA394297203NTHL1c.242C>T (p.Pro81Leu)
c.197C>T (p.Pro66Leu)
c.266C>T (p.Pro89Leu)
c.162C>T
c.205C>T
c.173+40C>T
c.24+40C>T (n.24+40C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2046240G>CCA394297187NTHL1c.242C>G (p.Pro81Arg)
c.197C>G (p.Pro66Arg)
c.266C>G (p.Pro89Arg)
c.162C>G
c.205C>G
c.173+40C>G
c.24+40C>G (n.24+40C>G)
16g.2046240G=CA2201986760NTHL1c.242C= (p.Pro81=)
c.197C= (p.Pro66=)
c.266C= (p.Pro89=)
c.162C=
c.205C=
c.173+40C=
c.24+40C= (n.24+40C=)
16g.2046240G>TCA7828338NTHL1c.242C>A (p.Pro81His)
c.197C>A (p.Pro66His)
c.266C>A (p.Pro89His)
c.162C>A
c.205C>A
c.173+40C>A
c.24+40C>A (n.24+40C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2046240_2046241insACA2573151821NTHL1c.241_242insT (p.Pro81LeufsTer28)
c.196_197insT (p.Pro66LeufsTer28)
c.265_266insT (p.Pro89LeufsTer28)
c.161_162insT
c.204_205insT
c.173+39_173+40insT
c.24+39_24+40insT (n.24+39_24+40insT)
 ClinVar dbSNP
16g.2046241G>ACA394297211NTHL1c.241C>T (p.Pro81Ser)
c.196C>T (p.Pro66Ser)
c.265C>T (p.Pro89Ser)
c.161C>T
c.204C>T
c.173+39C>T
c.24+39C>T (n.24+39C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.2046241G>CCA394297214NTHL1c.241C>G (p.Pro81Ala)
c.196C>G (p.Pro66Ala)
c.265C>G (p.Pro89Ala)
c.161C>G
c.204C>G
c.173+39C>G
c.24+39C>G (n.24+39C>G)
 ClinVar dbSNP gnomAD v4
16g.2046241G=CA2201986762NTHL1c.241C= (p.Pro81=)
c.196C= (p.Pro66=)
c.265C= (p.Pro89=)
c.161C=
c.204C=
c.173+39C=
c.24+39C= (n.24+39C=)
16g.2046241G>TCA394297229NTHL1c.241C>A (p.Pro81Thr)
c.196C>A (p.Pro66Thr)
c.265C>A (p.Pro89Thr)
c.161C>A
c.204C>A
c.173+39C>A
c.24+39C>A (n.24+39C>A)
 gnomAD v4
16g.2046242C>ACA394297232NTHL1c.240G>T (p.Glu80Asp)
c.195G>T (p.Glu65Asp)
c.264G>T (p.Glu88Asp)
c.160G>T
c.203G>T
c.173+38G>T
c.24+38G>T (n.24+38G>T)
16g.2046242C>GCA394297235NTHL1c.240G>C (p.Glu80Asp)
c.195G>C (p.Glu65Asp)
c.264G>C (p.Glu88Asp)
c.160G>C
c.203G>C
c.173+38G>C
c.24+38G>C (n.24+38G>C)
16g.2046242C>TCA492953320NTHL1c.240G>A (p.Glu80=)
c.195G>A (p.Glu65=)
c.264G>A (p.Glu88=)
c.160G>A
c.203G>A
c.173+38G>A
c.24+38G>A (n.24+38G>A)
 ClinVar gnomAD v4
16g.2046243delCA2573151822NTHL1c.239del (p.Glu80GlyfsTer15)
c.194del (p.Glu65GlyfsTer15)
c.263del (p.Glu88GlyfsTer15)
c.159del
c.202del
c.173+37del
c.24+37del (n.24+37del)
 ClinVar dbSNP
16g.2046243T>ACA394297242NTHL1c.239A>T (p.Glu80Val)
c.194A>T (p.Glu65Val)
c.263A>T (p.Glu88Val)
c.159A>T
c.202A>T
c.173+37A>T
c.24+37A>T (n.24+37A>T)
16g.2046243T>CCA394297237NTHL1c.239A>G (p.Glu80Gly)
c.194A>G (p.Glu65Gly)
c.263A>G (p.Glu88Gly)
c.159A>G
c.202A>G
c.173+37A>G
c.24+37A>G (n.24+37A>G)
 dbSNP
16g.2046243T>GCA394297240NTHL1c.239A>C (p.Glu80Ala)
c.194A>C (p.Glu65Ala)
c.263A>C (p.Glu88Ala)
c.159A>C
c.202A>C
c.173+37A>C
c.24+37A>C (n.24+37A>C)
16g.2046244C>ACA394297246NTHL1c.238G>T (p.Glu80Ter)
c.193G>T (p.Glu65Ter)
c.262G>T (p.Glu88Ter)
c.158G>T
c.201G>T
c.173+36G>T
c.24+36G>T (n.24+36G>T)
 dbSNP
16g.2046244C>GCA394297247NTHL1c.238G>C (p.Glu80Gln)
c.193G>C (p.Glu65Gln)
c.262G>C (p.Glu88Gln)
c.158G>C
c.201G>C
c.173+36G>C
c.24+36G>C (n.24+36G>C)
 gnomAD v4
16g.2046244C>TCA394297251NTHL1c.238G>A (p.Glu80Lys)
c.193G>A (p.Glu65Lys)
c.262G>A (p.Glu88Lys)
c.158G>A
c.201G>A
c.173+36G>A
c.24+36G>A (n.24+36G>A)
16g.2046245C>ACA394297255NTHL1c.237G>T (p.Trp79Cys)
c.192G>T (p.Trp64Cys)
c.261G>T (p.Trp87Cys)
c.157G>T
c.200G>T
c.173+35G>T
c.24+35G>T (n.24+35G>T)
 dbSNP
16g.2046245C=CA2201986765NTHL1c.237G= (p.Trp79=)
c.192G= (p.Trp64=)
c.261G= (p.Trp87=)
c.157G=
c.200G=
c.173+35G=
c.24+35G= (n.24+35G=)
16g.2046245C>GCA394297262NTHL1c.237G>C (p.Trp79Cys)
c.192G>C (p.Trp64Cys)
c.261G>C (p.Trp87Cys)
c.157G>C
c.200G>C
c.173+35G>C
c.24+35G>C (n.24+35G>C)
 ClinVar dbSNP
16g.2046245C>TCA394297266NTHL1c.237G>A (p.Trp79Ter)
c.192G>A (p.Trp64Ter)
c.261G>A (p.Trp87Ter)
c.157G>A
c.200G>A
c.173+35G>A
c.24+35G>A (n.24+35G>A)
 ClinVar dbSNP
16g.2046246C>ACA394297273NTHL1c.236G>T (p.Trp79Leu)
c.191G>T (p.Trp64Leu)
c.260G>T (p.Trp87Leu)
c.156G>T
c.199G>T
c.173+34G>T
c.24+34G>T (n.24+34G>T)
 ClinVar dbSNP
16g.2046246C>GCA394297277NTHL1c.236G>C (p.Trp79Ser)
c.191G>C (p.Trp64Ser)
c.260G>C (p.Trp87Ser)
c.156G>C
c.199G>C
c.173+34G>C
c.24+34G>C (n.24+34G>C)
16g.2046246C>TCA394297311NTHL1c.236G>A (p.Trp79Ter)
c.191G>A (p.Trp64Ter)
c.260G>A (p.Trp87Ter)
c.156G>A
c.199G>A
c.173+34G>A
c.24+34G>A (n.24+34G>A)
16g.2046247A=CA2201986768NTHL1c.235T= (p.Trp79=)
c.190T= (p.Trp64=)
c.259T= (p.Trp87=)
c.155T=
c.198T=
c.173+33T=
c.24+33T= (n.24+33T=)
16g.2046247A>CCA394297314NTHL1c.235T>G (p.Trp79Gly)
c.190T>G (p.Trp64Gly)
c.259T>G (p.Trp87Gly)
c.155T>G
c.198T>G
c.173+33T>G
c.24+33T>G (n.24+33T>G)
 ClinVar dbSNP gnomAD v4
16g.2046247A>GCA394297315NTHL1c.235T>C (p.Trp79Arg)
c.190T>C (p.Trp64Arg)
c.259T>C (p.Trp87Arg)
c.155T>C
c.198T>C
c.173+33T>C
c.24+33T>C (n.24+33T>C)
16g.2046247A>TCA394297316NTHL1c.235T>A (p.Trp79Arg)
c.190T>A (p.Trp64Arg)
c.259T>A (p.Trp87Arg)
c.155T>A
c.198T>A
c.173+33T>A
c.24+33T>A (n.24+33T>A)
16g.2046248G>ACA492953321NTHL1c.234C>T (p.Val78=)
c.189C>T (p.Val63=)
c.258C>T (p.Val86=)
c.154C>T
c.197C>T
c.173+32C>T
c.24+32C>T (n.24+32C>T)
 ClinVar dbSNP
16g.2046248G>CCA492953322NTHL1c.234C>G (p.Val78=)
c.189C>G (p.Val63=)
c.258C>G (p.Val86=)
c.154C>G
c.197C>G
c.173+32C>G
c.24+32C>G (n.24+32C>G)
 ClinVar dbSNP gnomAD v4
16g.2046248G=CA2201986771NTHL1c.234C= (p.Val78=)
c.189C= (p.Val63=)
c.258C= (p.Val86=)
c.154C=
c.197C=
c.173+32C=
c.24+32C= (n.24+32C=)
16g.2046248G>TCA492953323NTHL1c.234C>A (p.Val78=)
c.189C>A (p.Val63=)
c.258C>A (p.Val86=)
c.154C>A
c.197C>A
c.173+32C>A
c.24+32C>A (n.24+32C>A)
16g.2046248dupCA2573151823NTHL1c.234dup (p.Trp79LeufsTer30)
c.189dup (p.Trp64LeufsTer30)
c.258dup (p.Trp87LeufsTer30)
c.154dup
c.197dup
c.173+32dup
c.24+32dup (n.24+32dup)
 ClinVar dbSNP
16g.2046249A>CCA394297321NTHL1c.233T>G (p.Val78Gly)
c.188T>G (p.Val63Gly)
c.257T>G (p.Val86Gly)
c.153T>G
c.196T>G
c.173+31T>G
c.24+31T>G (n.24+31T>G)
16g.2046249A>GCA394297320NTHL1c.233T>C (p.Val78Ala)
c.188T>C (p.Val63Ala)
c.257T>C (p.Val86Ala)
c.153T>C
c.196T>C
c.173+31T>C
c.24+31T>C (n.24+31T>C)
16g.2046249A>TCA394297319NTHL1c.233T>A (p.Val78Asp)
c.188T>A (p.Val63Asp)
c.257T>A (p.Val86Asp)
c.153T>A
c.196T>A
c.173+31T>A
c.24+31T>A (n.24+31T>A)
16g.2046249_2046250delinsACCA2201986774NTHL1c.232_233delinsGT (p.Val78=)
c.187_188delinsGT (p.Val63=)
c.256_257delinsGT (p.Val86=)
c.152_153delinsGT
c.195_196delinsGT
c.173+30_173+31delinsGT
c.24+30_24+31delinsGT (n.24+30_24+31delinsGT)
16g.2046250delCA718909211NTHL1c.232del (p.Val78SerfsTer17)
c.187del (p.Val63SerfsTer17)
c.256del (p.Val86SerfsTer17)
c.152del
c.195del
c.173+30del
c.24+30del (n.24+30del)
 ClinVar dbSNP gnomAD v4
16g.2046250C>ACA394297325NTHL1c.232G>T (p.Val78Phe)
c.187G>T (p.Val63Phe)
c.256G>T (p.Val86Phe)
c.152G>T
c.195G>T
c.173+30G>T
c.24+30G>T (n.24+30G>T)
 dbSNP
16g.2046250C=CA2201986787NTHL1c.232G= (p.Val78=)
c.187G= (p.Val63=)
c.256G= (p.Val86=)
c.152G=
c.195G=
c.173+30G=
c.24+30G= (n.24+30G=)
16g.2046250C>GCA394297328NTHL1c.232G>C (p.Val78Leu)
c.187G>C (p.Val63Leu)
c.256G>C (p.Val86Leu)
c.152G>C
c.195G>C
c.173+30G>C
c.24+30G>C (n.24+30G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2046250C>TCA394297329NTHL1c.232G>A (p.Val78Ile)
c.187G>A (p.Val63Ile)
c.256G>A (p.Val86Ile)
c.152G>A
c.195G>A
c.173+30G>A
c.24+30G>A (n.24+30G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2046251T>ACA492953324NTHL1c.231A>T (p.Pro77=)
c.186A>T (p.Pro62=)
c.255A>T (p.Pro85=)
c.151A>T
c.194A>T
c.173+29A>T
c.24+29A>T (n.24+29A>T)
16g.2046251T>CCA7828339NTHL1c.231A>G (p.Pro77=)
c.186A>G (p.Pro62=)
c.255A>G (p.Pro85=)
c.151A>G
c.194A>G
c.173+29A>G
c.24+29A>G (n.24+29A>G)
 ClinVar dbSNP ExAC gnomAD v2
16g.2046251T>GCA492953326NTHL1c.231A>C (p.Pro77=)
c.186A>C (p.Pro62=)
c.255A>C (p.Pro85=)
c.151A>C
c.194A>C
c.173+29A>C
c.24+29A>C (n.24+29A>C)
 ClinVar
16g.2046251T=CA2201986796NTHL1c.231A= (p.Pro77=)
c.186A= (p.Pro62=)
c.255A= (p.Pro85=)
c.151A=
c.194A=
c.173+29A=
c.24+29A= (n.24+29A=)
16g.2046252G>ACA394297332NTHL1c.230C>T (p.Pro77Leu)
c.185C>T (p.Pro62Leu)
c.254C>T (p.Pro85Leu)
c.150C>T
c.193C>T
c.173+28C>T
c.24+28C>T (n.24+28C>T)
16g.2046252G>CCA394297333NTHL1c.230C>G (p.Pro77Arg)
c.185C>G (p.Pro62Arg)
c.254C>G (p.Pro85Arg)
c.150C>G
c.193C>G
c.173+28C>G
c.24+28C>G (n.24+28C>G)
16g.2046252G>TCA394297334NTHL1c.230C>A (p.Pro77Gln)
c.185C>A (p.Pro62Gln)
c.254C>A (p.Pro85Gln)
c.150C>A
c.193C>A
c.173+28C>A
c.24+28C>A (n.24+28C>A)
16g.2046253G>ACA394297335NTHL1c.229C>T (p.Pro77Ser)
c.184C>T (p.Pro62Ser)
c.253C>T (p.Pro85Ser)
c.149C>T
c.192C>T
c.173+27C>T
c.24+27C>T (n.24+27C>T)
 ClinVar dbSNP
16g.2046253G>CCA394297339NTHL1c.229C>G (p.Pro77Ala)
c.184C>G (p.Pro62Ala)
c.253C>G (p.Pro85Ala)
c.149C>G
c.192C>G
c.173+27C>G
c.24+27C>G (n.24+27C>G)
 ClinVar gnomAD v4
16g.2046253G=CA2201986799NTHL1c.229C= (p.Pro77=)
c.184C= (p.Pro62=)
c.253C= (p.Pro85=)
c.149C=
c.192C=
c.173+27C=
c.24+27C= (n.24+27C=)
16g.2046253G>TCA394297341NTHL1c.229C>A (p.Pro77Thr)
c.184C>A (p.Pro62Thr)
c.253C>A (p.Pro85Thr)
c.149C>A
c.192C>A
c.173+27C>A
c.24+27C>A (n.24+27C>A)
 dbSNP gnomAD v2 gnomAD v4
16g.2046254C>ACA492953327NTHL1c.228G>T (p.Val76=)
c.183G>T (p.Val61=)
c.252G>T (p.Val84=)
c.148G>T
c.191G>T
c.173+26G>T
c.24+26G>T (n.24+26G>T)
16g.2046254C>GCA492953328NTHL1c.228G>C (p.Val76=)
c.183G>C (p.Val61=)
c.252G>C (p.Val84=)
c.148G>C
c.191G>C
c.173+26G>C
c.24+26G>C (n.24+26G>C)
16g.2046254C>TCA492953329NTHL1c.228G>A (p.Val76=)
c.183G>A (p.Val61=)
c.252G>A (p.Val84=)
c.148G>A
c.191G>A
c.173+26G>A
c.24+26G>A (n.24+26G>A)
16g.2046255A>CCA394297348NTHL1c.227T>G (p.Val76Gly)
c.182T>G (p.Val61Gly)
c.251T>G (p.Val84Gly)
c.147T>G
c.190T>G
c.173+25T>G
c.24+25T>G (n.24+25T>G)
16g.2046255A>GCA394297350NTHL1c.227T>C (p.Val76Ala)
c.182T>C (p.Val61Ala)
c.251T>C (p.Val84Ala)
c.147T>C
c.190T>C
c.173+25T>C
c.24+25T>C (n.24+25T>C)
16g.2046255A>TCA394297353NTHL1c.227T>A (p.Val76Glu)
c.182T>A (p.Val61Glu)
c.251T>A (p.Val84Glu)
c.147T>A
c.190T>A
c.173+25T>A
c.24+25T>A (n.24+25T>A)
16g.2046256C>ACA394297362NTHL1c.226G>T (p.Val76Leu)
c.181G>T (p.Val61Leu)
c.250G>T (p.Val84Leu)
c.146G>T
c.189G>T
c.173+24G>T
c.24+24G>T (n.24+24G>T)
16g.2046256C>GCA394297363NTHL1c.226G>C (p.Val76Leu)
c.181G>C (p.Val61Leu)
c.250G>C (p.Val84Leu)
c.146G>C
c.189G>C
c.173+24G>C
c.24+24G>C (n.24+24G>C)
16g.2046256C>TCA394297357NTHL1c.226G>A (p.Val76Met)
c.181G>A (p.Val61Met)
c.250G>A (p.Val84Met)
c.146G>A
c.189G>A
c.173+24G>A
c.24+24G>A (n.24+24G>A)
16g.2046257delCA2580090648NTHL1c.226del (p.Val76CysfsTer19)
c.181del (p.Val61CysfsTer19)
c.250del (p.Val84CysfsTer19)
c.146del
c.189del
c.173+24del
c.24+24del (n.24+24del)
 ClinVar gnomAD v4
16g.2046257C>ACA394297364NTHL1c.225G>T (p.Lys75Asn)
c.180G>T (p.Lys60Asn)
c.249G>T (p.Lys83Asn)
c.145G>T
c.188G>T
c.173+23G>T
c.24+23G>T (n.24+23G>T)
 ClinVar dbSNP
16g.2046257C=CA2201986803NTHL1c.225G= (p.Lys75=)
c.180G= (p.Lys60=)
c.249G= (p.Lys83=)
c.145G=
c.188G=
c.173+23G=
c.24+23G= (n.24+23G=)
16g.2046257C>GCA394297365NTHL1c.225G>C (p.Lys75Asn)
c.180G>C (p.Lys60Asn)
c.249G>C (p.Lys83Asn)
c.145G>C
c.188G>C
c.173+23G>C
c.24+23G>C (n.24+23G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2046257C>TCA492953330NTHL1c.225G>A (p.Lys75=)
c.180G>A (p.Lys60=)
c.249G>A (p.Lys83=)
c.145G>A
c.188G>A
c.173+23G>A
c.24+23G>A (n.24+23G>A)
 ClinVar
16g.2046258T>ACA394297369NTHL1c.224A>T (p.Lys75Met)
c.179A>T (p.Lys60Met)
c.248A>T (p.Lys83Met)
c.144A>T
c.187A>T
c.173+22A>T
c.24+22A>T (n.24+22A>T)
 gnomAD v4
16g.2046258T>CCA394297373NTHL1c.224A>G (p.Lys75Arg)
c.179A>G (p.Lys60Arg)
c.248A>G (p.Lys83Arg)
c.144A>G
c.187A>G
c.173+22A>G
c.24+22A>G (n.24+22A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2046258T>GCA394297378NTHL1c.224A>C (p.Lys75Thr)
c.179A>C (p.Lys60Thr)
c.248A>C (p.Lys83Thr)
c.144A>C
c.187A>C
c.173+22A>C
c.24+22A>C (n.24+22A>C)
 ClinVar dbSNP
16g.2046258T=CA2201986810NTHL1c.224A= (p.Lys75=)
c.179A= (p.Lys60=)
c.248A= (p.Lys83=)
c.144A=
c.187A=
c.173+22A=
c.24+22A= (n.24+22A=)
16g.2046259T>ACA394297383NTHL1c.223A>T (p.Lys75Ter)
c.178A>T (p.Lys60Ter)
c.247A>T (p.Lys83Ter)
c.143A>T
c.186A>T
c.173+21A>T
c.24+21A>T (n.24+21A>T)
 ClinVar
16g.2046259T>CCA394297387NTHL1c.223A>G (p.Lys75Glu)
c.178A>G (p.Lys60Glu)
c.247A>G (p.Lys83Glu)
c.143A>G
c.186A>G
c.173+21A>G
c.24+21A>G (n.24+21A>G)
16g.2046259T>GCA394297390NTHL1c.223A>C (p.Lys75Gln)
c.178A>C (p.Lys60Gln)
c.247A>C (p.Lys83Gln)
c.143A>C
c.186A>C
c.173+21A>C
c.24+21A>C (n.24+21A>C)
 gnomAD v4
16g.2046260G>ACA492953334NTHL1c.222C>T (p.Leu74=)
c.177C>T (p.Leu59=)
c.246C>T (p.Leu82=)
c.142C>T
c.185C>T
c.173+20C>T
c.24+20C>T (n.24+20C>T)
16g.2046260G>CCA7828340NTHL1c.222C>G (p.Leu74=)
c.177C>G (p.Leu59=)
c.246C>G (p.Leu82=)
c.142C>G
c.185C>G
c.173+20C>G
c.24+20C>G (n.24+20C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2046260G=CA2201986814NTHL1c.222C= (p.Leu74=)
c.177C= (p.Leu59=)
c.246C= (p.Leu82=)
c.142C=
c.185C=
c.173+20C=
c.24+20C= (n.24+20C=)
16g.2046260G>TCA492953333NTHL1c.222C>A (p.Leu74=)
c.177C>A (p.Leu59=)
c.246C>A (p.Leu82=)
c.142C>A
c.185C>A
c.173+20C>A
c.24+20C>A (n.24+20C>A)

Number of alleles fetched