Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.40651466T>CCA2627840307KNL1c.6213-5T>C (n.6213-5T>C)
c.6291-5T>C (n.6291-5T>C)
c.3346-5T>C
n.293-5T>C
c.5889-5T>C (n.5889-5T>C)
 gnomAD v4
15g.40651466T>GCA2171877469KNL1c.6213-5T>G (n.6213-5T>G)
c.6291-5T>G (n.6291-5T>G)
c.3346-5T>G
n.293-5T>G
c.5889-5T>G (n.5889-5T>G)
 dbSNP
15g.40651466T=CA2171877468KNL1c.6213-5T= (n.6213-5T=)
c.6291-5T= (n.6291-5T=)
c.3346-5T=
n.293-5T=
c.5889-5T= (n.5889-5T=)
15g.40651467G>ACA2627840308KNL1c.6213-4G>A (n.6213-4G>A)
c.6291-4G>A (n.6291-4G>A)
c.3346-4G>A
n.293-4G>A
c.5889-4G>A (n.5889-4G>A)
 gnomAD v4
15g.40651468C>ACA2627840310KNL1c.6213-3C>A (n.6213-3C>A)
c.6291-3C>A (n.6291-3C>A)
c.3346-3C>A
n.293-3C>A
c.5889-3C>A (n.5889-3C>A)
 gnomAD v4
15g.40651469A>CCA391773148KNL1c.6213-2A>C (n.6213-2A>C)
c.6291-2A>C (n.6291-2A>C)
c.3346-2A>C
n.293-2A>C
c.5889-2A>C (n.5889-2A>C)
15g.40651469A>GCA391773149KNL1c.6213-2A>G (n.6213-2A>G)
c.6291-2A>G (n.6291-2A>G)
c.3346-2A>G
n.293-2A>G
c.5889-2A>G (n.5889-2A>G)
 gnomAD v4
15g.40651469A>TCA391773147KNL1c.6213-2A>T (n.6213-2A>T)
c.6291-2A>T (n.6291-2A>T)
c.3346-2A>T
n.293-2A>T
c.5889-2A>T (n.5889-2A>T)
15g.40651470G>ACA391773152KNL1c.6213-1G>A (n.6213-1G>A)
c.6291-1G>A (n.6291-1G>A)
c.3346-1G>A
n.293-1G>A
c.5889-1G>A (n.5889-1G>A)
 COSMIC COSMIC
15g.40651470G>CCA391773150KNL1c.6213-1G>C (n.6213-1G>C)
c.6291-1G>C (n.6291-1G>C)
c.3346-1G>C
n.293-1G>C
c.5889-1G>C (n.5889-1G>C)
15g.40651470G>TCA391773151KNL1c.6213-1G>T (n.6213-1G>T)
c.6291-1G>T (n.6291-1G>T)
c.3346-1G>T
n.293-1G>T
c.5889-1G>T (n.5889-1G>T)
15g.40651471A>CCA391773153KNL1c.6213A>C (p.Arg2071Ser)
c.6291A>C (p.Arg2097Ser)
c.3346A>C
n.293A>C
c.5889A>C (p.Arg1963Ser)
15g.40651471A>GCA489772926KNL1c.6213A>G (p.Arg2071=)
c.6291A>G (p.Arg2097=)
c.3346A>G
n.293A>G
c.5889A>G (p.Arg1963=)
15g.40651471A>TCA391773154KNL1c.6213A>T (p.Arg2071Ser)
c.6291A>T (p.Arg2097Ser)
c.3346A>T
n.293A>T
c.5889A>T (p.Arg1963Ser)
15g.40651472A=CA2171877470KNL1c.6214A= (p.Asn2072=)
c.6292A= (p.Asn2098=)
c.3347A=
n.294A=
c.5890A= (p.Asn1964=)
15g.40651472A>CCA391773155KNL1c.6214A>C (p.Asn2072His)
c.6292A>C (p.Asn2098His)
c.3347A>C
n.294A>C
c.5890A>C (p.Asn1964His)
 dbSNP gnomAD v3 gnomAD v4
15g.40651472A>GCA391773156KNL1c.6214A>G (p.Asn2072Asp)
c.6292A>G (p.Asn2098Asp)
c.3347A>G
n.294A>G
c.5890A>G (p.Asn1964Asp)
15g.40651472A>TCA391773157KNL1c.6214A>T (p.Asn2072Tyr)
c.6292A>T (p.Asn2098Tyr)
c.3347A>T
n.294A>T
c.5890A>T (p.Asn1964Tyr)
15g.40651473A=CA2171877471KNL1c.6215A= (p.Asn2072=)
c.6293A= (p.Asn2098=)
c.3348A=
n.295A=
c.5891A= (p.Asn1964=)
15g.40651473A>CCA391773158KNL1c.6215A>C (p.Asn2072Thr)
c.6293A>C (p.Asn2098Thr)
c.3348A>C
n.295A>C
c.5891A>C (p.Asn1964Thr)
15g.40651473A>GCA7483657KNL1c.6215A>G (p.Asn2072Ser)
c.6293A>G (p.Asn2098Ser)
c.3348A>G
n.295A>G
c.5891A>G (p.Asn1964Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40651473A>TCA391773159KNL1c.6215A>T (p.Asn2072Ile)
c.6293A>T (p.Asn2098Ile)
c.3348A>T
n.295A>T
c.5891A>T (p.Asn1964Ile)
15g.40651474T>ACA391773160KNL1c.6216T>A (p.Asn2072Lys)
c.6294T>A (p.Asn2098Lys)
c.3349T>A
n.296T>A
c.5892T>A (p.Asn1964Lys)
15g.40651474T>CCA489772934KNL1c.6216T>C (p.Asn2072=)
c.6294T>C (p.Asn2098=)
c.3349T>C
n.296T>C
c.5892T>C (p.Asn1964=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.40651474T>GCA391773161KNL1c.6216T>G (p.Asn2072Lys)
c.6294T>G (p.Asn2098Lys)
c.3349T>G
n.296T>G
c.5892T>G (p.Asn1964Lys)
15g.40651474T=CA2171877472KNL1c.6216T= (p.Asn2072=)
c.6294T= (p.Asn2098=)
c.3349T=
n.296T=
c.5892T= (p.Asn1964=)
15g.40651475C>ACA391773164KNL1c.6217C>A (p.Leu2073Ile)
c.6295C>A (p.Leu2099Ile)
c.3350C>A
n.297C>A
c.5893C>A (p.Leu1965Ile)
 gnomAD v4
15g.40651475C=CA2171877473KNL1c.6217C= (p.Leu2073=)
c.6295C= (p.Leu2099=)
c.3350C=
n.297C=
c.5893C= (p.Leu1965=)
15g.40651475C>GCA391773162KNL1c.6217C>G (p.Leu2073Val)
c.6295C>G (p.Leu2099Val)
c.3350C>G
n.297C>G
c.5893C>G (p.Leu1965Val)
15g.40651475C>TCA391773163KNL1c.6217C>T (p.Leu2073Phe)
c.6295C>T (p.Leu2099Phe)
c.3350C>T
n.297C>T
c.5893C>T (p.Leu1965Phe)
 dbSNP
15g.40651476T>ACA391773165KNL1c.6218T>A (p.Leu2073His)
c.6296T>A (p.Leu2099His)
c.3351T>A
n.298T>A
c.5894T>A (p.Leu1965His)
15g.40651476T>CCA391773166KNL1c.6218T>C (p.Leu2073Pro)
c.6296T>C (p.Leu2099Pro)
c.3351T>C
n.298T>C
c.5894T>C (p.Leu1965Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.40651476T>GCA391773167KNL1c.6218T>G (p.Leu2073Arg)
c.6296T>G (p.Leu2099Arg)
c.3351T>G
n.298T>G
c.5894T>G (p.Leu1965Arg)
15g.40651476T=CA2171877474KNL1c.6218T= (p.Leu2073=)
c.6296T= (p.Leu2099=)
c.3351T=
n.298T=
c.5894T= (p.Leu1965=)
15g.40651477C>ACA489772940KNL1c.6219C>A (p.Leu2073=)
c.6297C>A (p.Leu2099=)
c.3352C>A
n.299C>A
c.5895C>A (p.Leu1965=)
15g.40651477C=CA2171877475KNL1c.6219C= (p.Leu2073=)
c.6297C= (p.Leu2099=)
c.3352C=
n.299C=
c.5895C= (p.Leu1965=)
15g.40651477C>GCA7483658KNL1c.6219C>G (p.Leu2073=)
c.6297C>G (p.Leu2099=)
c.3352C>G
n.299C>G
c.5895C>G (p.Leu1965=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.40651477C>TCA489772941KNL1c.6219C>T (p.Leu2073=)
c.6297C>T (p.Leu2099=)
c.3352C>T
n.299C>T
c.5895C>T (p.Leu1965=)
 gnomAD v4
15g.40651478T>ACA391773168KNL1c.6220T>A (p.Leu2074Ile)
c.6298T>A (p.Leu2100Ile)
c.3353T>A
n.300T>A
c.5896T>A (p.Leu1966Ile)
15g.40651478T>CCA489772942KNL1c.6220T>C (p.Leu2074=)
c.6298T>C (p.Leu2100=)
c.3353T>C
n.300T>C
c.5896T>C (p.Leu1966=)
15g.40651478T>GCA391773169KNL1c.6220T>G (p.Leu2074Val)
c.6298T>G (p.Leu2100Val)
c.3353T>G
n.300T>G
c.5896T>G (p.Leu1966Val)
15g.40651479T>ACA391773170KNL1c.6221T>A (p.Leu2074Ter)
c.6299T>A (p.Leu2100Ter)
c.3354T>A
n.301T>A
c.5897T>A (p.Leu1966Ter)
15g.40651479T>CCA391773171KNL1c.6221T>C (p.Leu2074Ser)
c.6299T>C (p.Leu2100Ser)
c.3354T>C
n.301T>C
c.5897T>C (p.Leu1966Ser)
 gnomAD v4
15g.40651479T>GCA391773172KNL1c.6221T>G (p.Leu2074Ter)
c.6299T>G (p.Leu2100Ter)
c.3354T>G
n.301T>G
c.5897T>G (p.Leu1966Ter)
15g.40651480A>CCA391773173KNL1c.6222A>C (p.Leu2074Phe)
c.6300A>C (p.Leu2100Phe)
c.3355A>C
n.302A>C
c.5898A>C (p.Leu1966Phe)
15g.40651480A>GCA489772949KNL1c.6222A>G (p.Leu2074=)
c.6300A>G (p.Leu2100=)
c.3355A>G
n.302A>G
c.5898A>G (p.Leu1966=)
15g.40651480A>TCA391773174KNL1c.6222A>T (p.Leu2074Phe)
c.6300A>T (p.Leu2100Phe)
c.3355A>T
n.302A>T
c.5898A>T (p.Leu1966Phe)
15g.40651481G>ACA391773176KNL1c.6223G>A (p.Glu2075Lys)
c.6301G>A (p.Glu2101Lys)
c.3356G>A
n.303G>A
c.5899G>A (p.Glu1967Lys)
15g.40651481G>CCA391773177KNL1c.6223G>C (p.Glu2075Gln)
c.6301G>C (p.Glu2101Gln)
c.3356G>C
n.303G>C
c.5899G>C (p.Glu1967Gln)
15g.40651481G>TCA391773175KNL1c.6223G>T (p.Glu2075Ter)
c.6301G>T (p.Glu2101Ter)
c.3356G>T
n.303G>T
c.5899G>T (p.Glu1967Ter)
15g.40651482A>CCA391773178KNL1c.6224A>C (p.Glu2075Ala)
c.6302A>C (p.Glu2101Ala)
c.3357A>C
n.304A>C
c.5900A>C (p.Glu1967Ala)
15g.40651482A>GCA391773179KNL1c.6224A>G (p.Glu2075Gly)
c.6302A>G (p.Glu2101Gly)
c.3357A>G
n.304A>G
c.5900A>G (p.Glu1967Gly)
15g.40651482A>TCA391773180KNL1c.6224A>T (p.Glu2075Val)
c.6302A>T (p.Glu2101Val)
c.3357A>T
n.304A>T
c.5900A>T (p.Glu1967Val)
15g.40651483A>CCA391773181KNL1c.6225A>C (p.Glu2075Asp)
c.6303A>C (p.Glu2101Asp)
c.3358A>C
n.305A>C
c.5901A>C (p.Glu1967Asp)
15g.40651483A>GCA489772954KNL1c.6225A>G (p.Glu2075=)
c.6303A>G (p.Glu2101=)
c.3358A>G
n.305A>G
c.5901A>G (p.Glu1967=)
15g.40651483A>TCA391773182KNL1c.6225A>T (p.Glu2075Asp)
c.6303A>T (p.Glu2101Asp)
c.3358A>T
n.305A>T
c.5901A>T (p.Glu1967Asp)
15g.40651484C>ACA391773183KNL1c.6226C>A (p.Leu2076Met)
c.6304C>A (p.Leu2102Met)
c.3359C>A
n.306C>A
c.5902C>A (p.Leu1968Met)
15g.40651484C>GCA391773184KNL1c.6226C>G (p.Leu2076Val)
c.6304C>G (p.Leu2102Val)
c.3359C>G
n.306C>G
c.5902C>G (p.Leu1968Val)
15g.40651484C>TCA489772958KNL1c.6226C>T (p.Leu2076=)
c.6304C>T (p.Leu2102=)
c.3359C>T
n.306C>T
c.5902C>T (p.Leu1968=)
 gnomAD v4
15g.40651485T>ACA391773185KNL1c.6227T>A (p.Leu2076Gln)
c.6305T>A (p.Leu2102Gln)
c.3360T>A
n.307T>A
c.5903T>A (p.Leu1968Gln)
15g.40651485T>CCA391773186KNL1c.6227T>C (p.Leu2076Pro)
c.6305T>C (p.Leu2102Pro)
c.3360T>C
n.307T>C
c.5903T>C (p.Leu1968Pro)
 dbSNP gnomAD v2 gnomAD v4
15g.40651485T>GCA391773187KNL1c.6227T>G (p.Leu2076Arg)
c.6305T>G (p.Leu2102Arg)
c.3360T>G
n.307T>G
c.5903T>G (p.Leu1968Arg)
15g.40651485T=CA2171877476KNL1c.6227T= (p.Leu2076=)
c.6305T= (p.Leu2102=)
c.3360T=
n.307T=
c.5903T= (p.Leu1968=)
15g.40651486G>ACA489772964KNL1c.6228G>A (p.Leu2076=)
c.6306G>A (p.Leu2102=)
c.3361G>A
n.308G>A
c.5904G>A (p.Leu1968=)
 gnomAD v4
15g.40651486G>CCA489772960KNL1c.6228G>C (p.Leu2076=)
c.6306G>C (p.Leu2102=)
c.3361G>C
n.308G>C
c.5904G>C (p.Leu1968=)
15g.40651486G>TCA489772959KNL1c.6228G>T (p.Leu2076=)
c.6306G>T (p.Leu2102=)
c.3361G>T
n.308G>T
c.5904G>T (p.Leu1968=)
15g.40651487G>ACA391773188KNL1c.6229G>A (p.Glu2077Lys)
c.6307G>A (p.Glu2103Lys)
c.3362G>A
n.309G>A
c.5905G>A (p.Glu1969Lys)
15g.40651487G>CCA391773189KNL1c.6229G>C (p.Glu2077Gln)
c.6307G>C (p.Glu2103Gln)
c.3362G>C
n.309G>C
c.5905G>C (p.Glu1969Gln)
15g.40651487G>TCA391773190KNL1c.6229G>T (p.Glu2077Ter)
c.6307G>T (p.Glu2103Ter)
c.3362G>T
n.309G>T
c.5905G>T (p.Glu1969Ter)
15g.40651488A>CCA391773193KNL1c.6230A>C (p.Glu2077Ala)
c.6308A>C (p.Glu2103Ala)
c.3363A>C
n.310A>C
c.5906A>C (p.Glu1969Ala)
15g.40651488A>GCA391773192KNL1c.6230A>G (p.Glu2077Gly)
c.6308A>G (p.Glu2103Gly)
c.3363A>G
n.310A>G
c.5906A>G (p.Glu1969Gly)
 gnomAD v4
15g.40651488A>TCA391773191KNL1c.6230A>T (p.Glu2077Val)
c.6308A>T (p.Glu2103Val)
c.3363A>T
n.310A>T
c.5906A>T (p.Glu1969Val)
 gnomAD v4
15g.40651489G>ACA489772968KNL1c.6231G>A (p.Glu2077=)
c.6309G>A (p.Glu2103=)
c.3364G>A
n.311G>A
c.5907G>A (p.Glu1969=)
 dbSNP
15g.40651489G>CCA391773194KNL1c.6231G>C (p.Glu2077Asp)
c.6309G>C (p.Glu2103Asp)
c.3364G>C
n.311G>C
c.5907G>C (p.Glu1969Asp)
15g.40651489G=CA2171877477KNL1c.6231G= (p.Glu2077=)
c.6309G= (p.Glu2103=)
c.3364G=
n.311G=
c.5907G= (p.Glu1969=)
15g.40651489G>TCA391773195KNL1c.6231G>T (p.Glu2077Asp)
c.6309G>T (p.Glu2103Asp)
c.3364G>T
n.311G>T
c.5907G>T (p.Glu1969Asp)
15g.40651490G>ACA391773196KNL1c.6232G>A (p.Val2078Ile)
c.6310G>A (p.Val2104Ile)
c.3365G>A
n.312G>A
c.5908G>A (p.Val1970Ile)
 dbSNP gnomAD v3 gnomAD v4
15g.40651490G>CCA391773197KNL1c.6232G>C (p.Val2078Leu)
c.6310G>C (p.Val2104Leu)
c.3365G>C
n.312G>C
c.5908G>C (p.Val1970Leu)
15g.40651490G=CA2171877478KNL1c.6232G= (p.Val2078=)
c.6310G= (p.Val2104=)
c.3365G=
n.312G=
c.5908G= (p.Val1970=)
15g.40651490G>TCA391773198KNL1c.6232G>T (p.Val2078Leu)
c.6310G>T (p.Val2104Leu)
c.3365G>T
n.312G>T
c.5908G>T (p.Val1970Leu)
 dbSNP gnomAD v3 gnomAD v4
15g.40651491T>ACA391773199KNL1c.6233T>A (p.Val2078Glu)
c.6311T>A (p.Val2104Glu)
c.3366T>A
n.313T>A
c.5909T>A (p.Val1970Glu)
15g.40651491T>CCA391773200KNL1c.6233T>C (p.Val2078Ala)
c.6311T>C (p.Val2104Ala)
c.3366T>C
n.313T>C
c.5909T>C (p.Val1970Ala)
 gnomAD v4 COSMIC COSMIC
15g.40651491T>GCA391773201KNL1c.6233T>G (p.Val2078Gly)
c.6311T>G (p.Val2104Gly)
c.3366T>G
n.313T>G
c.5909T>G (p.Val1970Gly)
15g.40651492A>CCA489772972KNL1c.6234A>C (p.Val2078=)
c.6312A>C (p.Val2104=)
c.3367A>C
n.314A>C
c.5910A>C (p.Val1970=)
15g.40651492A>GCA489772970KNL1c.6234A>G (p.Val2078=)
c.6312A>G (p.Val2104=)
c.3367A>G
n.314A>G
c.5910A>G (p.Val1970=)
 gnomAD v4
15g.40651492A>TCA489772971KNL1c.6234A>T (p.Val2078=)
c.6312A>T (p.Val2104=)
c.3367A>T
n.314A>T
c.5910A>T (p.Val1970=)
 gnomAD v4
15g.40651493C>ACA391773202KNL1c.6235C>A (p.Gln2079Lys)
c.6313C>A (p.Gln2105Lys)
c.3368C>A
n.315C>A
c.5911C>A (p.Gln1971Lys)
15g.40651493C>GCA391773203KNL1c.6235C>G (p.Gln2079Glu)
c.6313C>G (p.Gln2105Glu)
c.3368C>G
n.315C>G
c.5911C>G (p.Gln1971Glu)
 gnomAD v4
15g.40651493C>TCA391773204KNL1c.6235C>T (p.Gln2079Ter)
c.6313C>T (p.Gln2105Ter)
c.3368C>T
n.315C>T
c.5911C>T (p.Gln1971Ter)
15g.40651493_40651494delinsCACA2171877479KNL1c.6235_6236delinsCA (p.Gln2079=)
c.6313_6314delinsCA (p.Gln2105=)
c.3368_3369delinsCA
n.315_316delinsCA
c.5911_5912delinsCA (p.Gln1971=)
15g.40651494A>CCA391773205KNL1c.6236A>C (p.Gln2079Pro)
c.6314A>C (p.Gln2105Pro)
c.3369A>C
n.316A>C
c.5912A>C (p.Gln1971Pro)
15g.40651494A>GCA391773206KNL1c.6236A>G (p.Gln2079Arg)
c.6314A>G (p.Gln2105Arg)
c.3369A>G
n.316A>G
c.5912A>G (p.Gln1971Arg)
15g.40651494A>TCA391773207KNL1c.6236A>T (p.Gln2079Leu)
c.6314A>T (p.Gln2105Leu)
c.3369A>T
n.316A>T
c.5912A>T (p.Gln1971Leu)
15g.40651498delCA2171877480KNL1c.6240del (p.Glu2081SerfsTer7)
c.6318del (p.Glu2107SerfsTer7)
c.3373del
n.320del
c.5916del (p.Glu1973SerfsTer7)
 dbSNP gnomAD v4
15g.40651495A>CCA391773208KNL1c.6237A>C (p.Gln2079His)
c.6315A>C (p.Gln2105His)
c.3370A>C
n.317A>C
c.5913A>C (p.Gln1971His)
15g.40651495A>GCA489772976KNL1c.6237A>G (p.Gln2079=)
c.6315A>G (p.Gln2105=)
c.3370A>G
n.317A>G
c.5913A>G (p.Gln1971=)
15g.40651495A>TCA391773209KNL1c.6237A>T (p.Gln2079His)
c.6315A>T (p.Gln2105His)
c.3370A>T
n.317A>T
c.5913A>T (p.Gln1971His)
15g.40651496A>CCA391773210KNL1c.6238A>C (p.Lys2080Gln)
c.6316A>C (p.Lys2106Gln)
c.3371A>C
n.318A>C
c.5914A>C (p.Lys1972Gln)
15g.40651496A>GCA391773211KNL1c.6238A>G (p.Lys2080Glu)
c.6316A>G (p.Lys2106Glu)
c.3371A>G
n.318A>G
c.5914A>G (p.Lys1972Glu)
15g.40651496A>TCA391773212KNL1c.6238A>T (p.Lys2080Ter)
c.6316A>T (p.Lys2106Ter)
c.3371A>T
n.318A>T
c.5914A>T (p.Lys1972Ter)
15g.40651497A>CCA391773213KNL1c.6239A>C (p.Lys2080Thr)
c.6317A>C (p.Lys2106Thr)
c.3372A>C
n.319A>C
c.5915A>C (p.Lys1972Thr)
15g.40651497A>GCA391773214KNL1c.6239A>G (p.Lys2080Arg)
c.6317A>G (p.Lys2106Arg)
c.3372A>G
n.319A>G
c.5915A>G (p.Lys1972Arg)
15g.40651497A>TCA391773215KNL1c.6239A>T (p.Lys2080Ile)
c.6317A>T (p.Lys2106Ile)
c.3372A>T
n.319A>T
c.5915A>T (p.Lys1972Ile)
15g.40651498A=CA2171877481KNL1c.6240A= (p.Lys2080=)
c.6318A= (p.Lys2106=)
c.3373A=
n.320A=
c.5916A= (p.Lys1972=)
15g.40651498A>CCA391773216KNL1c.6240A>C (p.Lys2080Asn)
c.6318A>C (p.Lys2106Asn)
c.3373A>C
n.320A>C
c.5916A>C (p.Lys1972Asn)
 gnomAD v4
15g.40651498A>GCA489772980KNL1c.6240A>G (p.Lys2080=)
c.6318A>G (p.Lys2106=)
c.3373A>G
n.320A>G
c.5916A>G (p.Lys1972=)
 dbSNP gnomAD v4
15g.40651498A>TCA391773217KNL1c.6240A>T (p.Lys2080Asn)
c.6318A>T (p.Lys2106Asn)
c.3373A>T
n.320A>T
c.5916A>T (p.Lys1972Asn)
15g.40651499G>ACA391773218KNL1c.6241G>A (p.Glu2081Lys)
c.6319G>A (p.Glu2107Lys)
c.3374G>A
n.321G>A
c.5917G>A (p.Glu1973Lys)
15g.40651499G>CCA391773219KNL1c.6241G>C (p.Glu2081Gln)
c.6319G>C (p.Glu2107Gln)
c.3374G>C
n.321G>C
c.5917G>C (p.Glu1973Gln)
15g.40651499G>TCA391773220KNL1c.6241G>T (p.Glu2081Ter)
c.6319G>T (p.Glu2107Ter)
c.3374G>T
n.321G>T
c.5917G>T (p.Glu1973Ter)
15g.40651500A>CCA391773221KNL1c.6242A>C (p.Glu2081Ala)
c.6320A>C (p.Glu2107Ala)
c.3375A>C
n.322A>C
c.5918A>C (p.Glu1973Ala)
15g.40651500A>GCA391773222KNL1c.6242A>G (p.Glu2081Gly)
c.6320A>G (p.Glu2107Gly)
c.3375A>G
n.322A>G
c.5918A>G (p.Glu1973Gly)
15g.40651500A>TCA391773223KNL1c.6242A>T (p.Glu2081Val)
c.6320A>T (p.Glu2107Val)
c.3375A>T
n.322A>T
c.5918A>T (p.Glu1973Val)
15g.40651501G>ACA7483659KNL1c.6243G>A (p.Glu2081=)
c.6321G>A (p.Glu2107=)
c.3376G>A
n.323G>A
c.5919G>A (p.Glu1973=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40651501G>CCA391773225KNL1c.6243G>C (p.Glu2081Asp)
c.6321G>C (p.Glu2107Asp)
c.3376G>C
n.323G>C
c.5919G>C (p.Glu1973Asp)
15g.40651501G=CA2171877482KNL1c.6243G= (p.Glu2081=)
c.6321G= (p.Glu2107=)
c.3376G=
n.323G=
c.5919G= (p.Glu1973=)
15g.40651501G>TCA391773224KNL1c.6243G>T (p.Glu2081Asp)
c.6321G>T (p.Glu2107Asp)
c.3376G>T
n.323G>T
c.5919G>T (p.Glu1973Asp)
15g.40651502C>ACA391773226KNL1c.6244C>A (p.Gln2082Lys)
c.6322C>A (p.Gln2108Lys)
c.3377C>A
n.324C>A
c.5920C>A (p.Gln1974Lys)
 dbSNP
15g.40651502C=CA2171877483KNL1c.6244C= (p.Gln2082=)
c.6322C= (p.Gln2108=)
c.3377C=
n.324C=
c.5920C= (p.Gln1974=)
15g.40651502C>GCA391773227KNL1c.6244C>G (p.Gln2082Glu)
c.6322C>G (p.Gln2108Glu)
c.3377C>G
n.324C>G
c.5920C>G (p.Gln1974Glu)
15g.40651502C>TCA391773228KNL1c.6244C>T (p.Gln2082Ter)
c.6322C>T (p.Gln2108Ter)
c.3377C>T
n.324C>T
c.5920C>T (p.Gln1974Ter)
 gnomAD v4 COSMIC COSMIC
15g.40651503A>CCA391773229KNL1c.6245A>C (p.Gln2082Pro)
c.6323A>C (p.Gln2108Pro)
c.3378A>C
n.325A>C
c.5921A>C (p.Gln1974Pro)
15g.40651503A>GCA391773230KNL1c.6245A>G (p.Gln2082Arg)
c.6323A>G (p.Gln2108Arg)
c.3378A>G
n.325A>G
c.5921A>G (p.Gln1974Arg)
15g.40651503A>TCA391773231KNL1c.6245A>T (p.Gln2082Leu)
c.6323A>T (p.Gln2108Leu)
c.3378A>T
n.325A>T
c.5921A>T (p.Gln1974Leu)
15g.40651504G>ACA489772985KNL1c.6246G>A (p.Gln2082=)
c.6324G>A (p.Gln2108=)
c.3379G>A
n.326G>A
c.5922G>A (p.Gln1974=)
15g.40651504G>CCA391773232KNL1c.6246G>C (p.Gln2082His)
c.6324G>C (p.Gln2108His)
c.3379G>C
n.326G>C
c.5922G>C (p.Gln1974His)
15g.40651504G>TCA391773233KNL1c.6246G>T (p.Gln2082His)
c.6324G>T (p.Gln2108His)
c.3379G>T
n.326G>T
c.5922G>T (p.Gln1974His)
15g.40651505A>CCA391773234KNL1c.6247A>C (p.Thr2083Pro)
c.6325A>C (p.Thr2109Pro)
c.3380A>C
n.327A>C
c.5923A>C (p.Thr1975Pro)
15g.40651505A>GCA391773235KNL1c.6247A>G (p.Thr2083Ala)
c.6325A>G (p.Thr2109Ala)
c.3380A>G
n.327A>G
c.5923A>G (p.Thr1975Ala)
15g.40651505A>TCA391773236KNL1c.6247A>T (p.Thr2083Ser)
c.6325A>T (p.Thr2109Ser)
c.3380A>T
n.327A>T
c.5923A>T (p.Thr1975Ser)
15g.40651506C>ACA7483660KNL1c.6248C>A (p.Thr2083Asn)
c.6326C>A (p.Thr2109Asn)
c.3381C>A
n.328C>A
c.5924C>A (p.Thr1975Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40651506C=CA2171877484KNL1c.6248C= (p.Thr2083=)
c.6326C= (p.Thr2109=)
c.3381C=
n.328C=
c.5924C= (p.Thr1975=)
15g.40651506C>GCA391773237KNL1c.6248C>G (p.Thr2083Ser)
c.6326C>G (p.Thr2109Ser)
c.3381C>G
n.328C>G
c.5924C>G (p.Thr1975Ser)
15g.40651506C>TCA7483661KNL1c.6248C>T (p.Thr2083Ile)
c.6326C>T (p.Thr2109Ile)
c.3381C>T
n.328C>T
c.5924C>T (p.Thr1975Ile)
 dbSNP ExAC gnomAD v2
15g.40651507C>ACA489772986KNL1c.6249C>A (p.Thr2083=)
c.6327C>A (p.Thr2109=)
c.3382C>A
n.329C>A
c.5925C>A (p.Thr1975=)
15g.40651507C>GCA489772987KNL1c.6249C>G (p.Thr2083=)
c.6327C>G (p.Thr2109=)
c.3382C>G
n.329C>G
c.5925C>G (p.Thr1975=)
15g.40651507C>TCA489772989KNL1c.6249C>T (p.Thr2083=)
c.6327C>T (p.Thr2109=)
c.3382C>T
n.329C>T
c.5925C>T (p.Thr1975=)
15g.40651508C>ACA391773239KNL1c.6250C>A (p.Leu2084Ile)
c.6328C>A (p.Leu2110Ile)
c.3383C>A
n.330C>A
c.5926C>A (p.Leu1976Ile)
 gnomAD v4
15g.40651508C=CA2171877485KNL1c.6250C= (p.Leu2084=)
c.6328C= (p.Leu2110=)
c.3383C=
n.330C=
c.5926C= (p.Leu1976=)
15g.40651508C>GCA391773240KNL1c.6250C>G (p.Leu2084Val)
c.6328C>G (p.Leu2110Val)
c.3383C>G
n.330C>G
c.5926C>G (p.Leu1976Val)
 dbSNP
15g.40651508C>TCA391773238KNL1c.6250C>T (p.Leu2084Phe)
c.6328C>T (p.Leu2110Phe)
c.3383C>T
n.330C>T
c.5926C>T (p.Leu1976Phe)
15g.40651509T>ACA391773241KNL1c.6251T>A (p.Leu2084His)
c.6329T>A (p.Leu2110His)
c.3384T>A
n.331T>A
c.5927T>A (p.Leu1976His)
15g.40651509T>CCA391773242KNL1c.6251T>C (p.Leu2084Pro)
c.6329T>C (p.Leu2110Pro)
c.3384T>C
n.331T>C
c.5927T>C (p.Leu1976Pro)
15g.40651509T>GCA391773243KNL1c.6251T>G (p.Leu2084Arg)
c.6329T>G (p.Leu2110Arg)
c.3384T>G
n.331T>G
c.5927T>G (p.Leu1976Arg)
15g.40651510T>ACA489772990KNL1c.6252T>A (p.Leu2084=)
c.6330T>A (p.Leu2110=)
c.3385T>A
n.332T>A
c.5928T>A (p.Leu1976=)
15g.40651510T>CCA489772991KNL1c.6252T>C (p.Leu2084=)
c.6330T>C (p.Leu2110=)
c.3385T>C
n.332T>C
c.5928T>C (p.Leu1976=)
 gnomAD v4
15g.40651510T>GCA489772992KNL1c.6252T>G (p.Leu2084=)
c.6330T>G (p.Leu2110=)
c.3385T>G
n.332T>G
c.5928T>G (p.Leu1976=)
15g.40651511G>ACA7483662KNL1c.6253G>A (p.Ala2085Thr)
c.6331G>A (p.Ala2111Thr)
c.3386G>A
n.333G>A
c.5929G>A (p.Ala1977Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.40651511G>CCA391773244KNL1c.6253G>C (p.Ala2085Pro)
c.6331G>C (p.Ala2111Pro)
c.3386G>C
n.333G>C
c.5929G>C (p.Ala1977Pro)
15g.40651511G=CA2171877486KNL1c.6253G= (p.Ala2085=)
c.6331G= (p.Ala2111=)
c.3386G=
n.333G=
c.5929G= (p.Ala1977=)
15g.40651511G>TCA391773245KNL1c.6253G>T (p.Ala2085Ser)
c.6331G>T (p.Ala2111Ser)
c.3386G>T
n.333G>T
c.5929G>T (p.Ala1977Ser)
15g.40651512C>ACA391773246KNL1c.6254C>A (p.Ala2085Asp)
c.6332C>A (p.Ala2111Asp)
c.3387C>A
n.334C>A
c.5930C>A (p.Ala1977Asp)
15g.40651512C=CA2171877487KNL1c.6254C= (p.Ala2085=)
c.6332C= (p.Ala2111=)
c.3387C=
n.334C=
c.5930C= (p.Ala1977=)
15g.40651512C>GCA391773247KNL1c.6254C>G (p.Ala2085Gly)
c.6332C>G (p.Ala2111Gly)
c.3387C>G
n.334C>G
c.5930C>G (p.Ala1977Gly)
 gnomAD v4
15g.40651512C>TCA391773248KNL1c.6254C>T (p.Ala2085Val)
c.6332C>T (p.Ala2111Val)
c.3387C>T
n.334C>T
c.5930C>T (p.Ala1977Val)
 dbSNP gnomAD v2 gnomAD v4
15g.40651513T>ACA489772994KNL1c.6255T>A (p.Ala2085=)
c.6333T>A (p.Ala2111=)
c.3388T>A
n.335T>A
c.5931T>A (p.Ala1977=)
15g.40651513T>CCA489772995KNL1c.6255T>C (p.Ala2085=)
c.6333T>C (p.Ala2111=)
c.3388T>C
n.335T>C
c.5931T>C (p.Ala1977=)
15g.40651513T>GCA489772997KNL1c.6255T>G (p.Ala2085=)
c.6333T>G (p.Ala2111=)
c.3388T>G
n.335T>G
c.5931T>G (p.Ala1977=)
15g.40651514C>ACA391773249KNL1c.6256C>A (p.Gln2086Lys)
c.6334C>A (p.Gln2112Lys)
c.3389C>A
n.336C>A
c.5932C>A (p.Gln1978Lys)
 gnomAD v4
15g.40651514C=CA2171877488KNL1c.6256C= (p.Gln2086=)
c.6334C= (p.Gln2112=)
c.3389C=
n.336C=
c.5932C= (p.Gln1978=)
15g.40651514C>GCA7483663KNL1c.6256C>G (p.Gln2086Glu)
c.6334C>G (p.Gln2112Glu)
c.3389C>G
n.336C>G
c.5932C>G (p.Gln1978Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.40651514C>TCA391773250KNL1c.6256C>T (p.Gln2086Ter)
c.6334C>T (p.Gln2112Ter)
c.3389C>T
n.336C>T
c.5932C>T (p.Gln1978Ter)
15g.40651515A>CCA391773252KNL1c.6257A>C (p.Gln2086Pro)
c.6335A>C (p.Gln2112Pro)
c.3390A>C
n.337A>C
c.5933A>C (p.Gln1978Pro)
15g.40651515A>GCA391773253KNL1c.6257A>G (p.Gln2086Arg)
c.6335A>G (p.Gln2112Arg)
c.3390A>G
n.337A>G
c.5933A>G (p.Gln1978Arg)
15g.40651515A>TCA391773251KNL1c.6257A>T (p.Gln2086Leu)
c.6335A>T (p.Gln2112Leu)
c.3390A>T
n.337A>T
c.5933A>T (p.Gln1978Leu)
15g.40651516A=CA2171877489KNL1c.6258A= (p.Gln2086=)
c.6336A= (p.Gln2112=)
c.3391A=
n.338A=
c.5934A= (p.Gln1978=)
15g.40651516A>CCA391773254KNL1c.6258A>C (p.Gln2086His)
c.6336A>C (p.Gln2112His)
c.3391A>C
n.338A>C
c.5934A>C (p.Gln1978His)
 COSMIC COSMIC
15g.40651516A>GCA7483664KNL1c.6258A>G (p.Gln2086=)
c.6336A>G (p.Gln2112=)
c.3391A>G
n.338A>G
c.5934A>G (p.Gln1978=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.40651516A>TCA391773255KNL1c.6258A>T (p.Gln2086His)
c.6336A>T (p.Gln2112His)
c.3391A>T
n.338A>T
c.5934A>T (p.Gln1978His)
15g.40651517A=CA2171877490KNL1c.6259A= (p.Ile2087=)
c.6337A= (p.Ile2113=)
c.3392A=
n.339A=
c.5935A= (p.Ile1979=)
15g.40651517A>CCA391773256KNL1c.6259A>C (p.Ile2087Leu)
c.6337A>C (p.Ile2113Leu)
c.3392A>C
n.339A>C
c.5935A>C (p.Ile1979Leu)
15g.40651517A>GCA391773257KNL1c.6259A>G (p.Ile2087Val)
c.6337A>G (p.Ile2113Val)
c.3392A>G
n.339A>G
c.5935A>G (p.Ile1979Val)
 dbSNP gnomAD v2 gnomAD v4
15g.40651517A>TCA391773258KNL1c.6259A>T (p.Ile2087Leu)
c.6337A>T (p.Ile2113Leu)
c.3392A>T
n.339A>T
c.5935A>T (p.Ile1979Leu)
15g.40651518T>ACA391773259KNL1c.6260T>A (p.Ile2087Lys)
c.6338T>A (p.Ile2113Lys)
c.3393T>A
n.340T>A
c.5936T>A (p.Ile1979Lys)
15g.40651518T>CCA391773261KNL1c.6260T>C (p.Ile2087Thr)
c.6338T>C (p.Ile2113Thr)
c.3393T>C
n.340T>C
c.5936T>C (p.Ile1979Thr)
 gnomAD v4 COSMIC COSMIC
15g.40651518T>GCA391773260KNL1c.6260T>G (p.Ile2087Arg)
c.6338T>G (p.Ile2113Arg)
c.3393T>G
n.340T>G
c.5936T>G (p.Ile1979Arg)
15g.40651519A>CCA489773001KNL1c.6261A>C (p.Ile2087=)
c.6339A>C (p.Ile2113=)
c.3394A>C
n.341A>C
c.5937A>C (p.Ile1979=)
15g.40651519A>GCA391773262KNL1c.6261A>G (p.Ile2087Met)
c.6339A>G (p.Ile2113Met)
c.3394A>G
n.341A>G
c.5937A>G (p.Ile1979Met)
15g.40651519A>TCA489773002KNL1c.6261A>T (p.Ile2087=)
c.6339A>T (p.Ile2113=)
c.3394A>T
n.341A>T
c.5937A>T (p.Ile1979=)
15g.40651520G>ACA391773263KNL1c.6262G>A (p.Asp2088Asn)
c.6340G>A (p.Asp2114Asn)
c.3395G>A
n.342G>A
c.5938G>A (p.Asp1980Asn)
 gnomAD v4
15g.40651520G>CCA391773264KNL1c.6262G>C (p.Asp2088His)
c.6340G>C (p.Asp2114His)
c.3395G>C
n.342G>C
c.5938G>C (p.Asp1980His)
 COSMIC COSMIC
15g.40651520G>TCA391773265KNL1c.6262G>T (p.Asp2088Tyr)
c.6340G>T (p.Asp2114Tyr)
c.3395G>T
n.342G>T
c.5938G>T (p.Asp1980Tyr)
 COSMIC COSMIC
15g.40651521A>CCA391773266KNL1c.6263A>C (p.Asp2088Ala)
c.6341A>C (p.Asp2114Ala)
c.3396A>C
n.343A>C
c.5939A>C (p.Asp1980Ala)
15g.40651521A>GCA391773268KNL1c.6263A>G (p.Asp2088Gly)
c.6341A>G (p.Asp2114Gly)
c.3396A>G
n.343A>G
c.5939A>G (p.Asp1980Gly)
 gnomAD v4
15g.40651521A>TCA391773267KNL1c.6263A>T (p.Asp2088Val)
c.6341A>T (p.Asp2114Val)
c.3396A>T
n.343A>T
c.5939A>T (p.Asp1980Val)
15g.40651522C>ACA391773269KNL1c.6264C>A (p.Asp2088Glu)
c.6342C>A (p.Asp2114Glu)
c.3397C>A
n.344C>A
c.5940C>A (p.Asp1980Glu)
15g.40651522C>GCA391773270KNL1c.6264C>G (p.Asp2088Glu)
c.6342C>G (p.Asp2114Glu)
c.3397C>G
n.344C>G
c.5940C>G (p.Asp1980Glu)
15g.40651522C>TCA489773004KNL1c.6264C>T (p.Asp2088=)
c.6342C>T (p.Asp2114=)
c.3397C>T
n.344C>T
c.5940C>T (p.Asp1980=)
15g.40651523T>ACA391773271KNL1c.6265T>A (p.Phe2089Ile)
c.6343T>A (p.Phe2115Ile)
c.3398T>A
n.345T>A
c.5941T>A (p.Phe1981Ile)
15g.40651523T>CCA391773272KNL1c.6265T>C (p.Phe2089Leu)
c.6343T>C (p.Phe2115Leu)
c.3398T>C
n.345T>C
c.5941T>C (p.Phe1981Leu)
 dbSNP gnomAD v2 gnomAD v4
15g.40651523T>GCA391773273KNL1c.6265T>G (p.Phe2089Val)
c.6343T>G (p.Phe2115Val)
c.3398T>G
n.345T>G
c.5941T>G (p.Phe1981Val)
 dbSNP gnomAD v2 gnomAD v4
15g.40651523T=CA2171877491KNL1c.6265T= (p.Phe2089=)
c.6343T= (p.Phe2115=)
c.3398T=
n.345T=
c.5941T= (p.Phe1981=)
15g.40651524T>ACA391773274KNL1c.6266T>A (p.Phe2089Tyr)
c.6344T>A (p.Phe2115Tyr)
c.3399T>A
n.346T>A
c.5942T>A (p.Phe1981Tyr)
15g.40651524T>CCA391773275KNL1c.6266T>C (p.Phe2089Ser)
c.6344T>C (p.Phe2115Ser)
c.3399T>C
n.346T>C
c.5942T>C (p.Phe1981Ser)
15g.40651524T>GCA391773276KNL1c.6266T>G (p.Phe2089Cys)
c.6344T>G (p.Phe2115Cys)
c.3399T>G
n.346T>G
c.5942T>G (p.Phe1981Cys)
15g.40651525T>ACA391773277KNL1c.6267T>A (p.Phe2089Leu)
c.6345T>A (p.Phe2115Leu)
c.3400T>A
n.347T>A
c.5943T>A (p.Phe1981Leu)
 gnomAD v4
15g.40651525T>CCA489773005KNL1c.6267T>C (p.Phe2089=)
c.6345T>C (p.Phe2115=)
c.3400T>C
n.347T>C
c.5943T>C (p.Phe1981=)
 gnomAD v4
15g.40651525T>GCA391773278KNL1c.6267T>G (p.Phe2089Leu)
c.6345T>G (p.Phe2115Leu)
c.3400T>G
n.347T>G
c.5943T>G (p.Phe1981Leu)
15g.40651526A=CA2171877492KNL1c.6268A= (p.Met2090=)
c.6346A= (p.Met2116=)
c.3401A=
n.348A=
c.5944A= (p.Met1982=)
15g.40651526A>CCA391773279KNL1c.6268A>C (p.Met2090Leu)
c.6346A>C (p.Met2116Leu)
c.3401A>C
n.348A>C
c.5944A>C (p.Met1982Leu)
15g.40651526A>GCA391773280KNL1c.6268A>G (p.Met2090Val)
c.6346A>G (p.Met2116Val)
c.3401A>G
n.348A>G
c.5944A>G (p.Met1982Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.40651526A>TCA391773281KNL1c.6268A>T (p.Met2090Leu)
c.6346A>T (p.Met2116Leu)
c.3401A>T
n.348A>T
c.5944A>T (p.Met1982Leu)
15g.40651527T>ACA391773284KNL1c.6269T>A (p.Met2090Lys)
c.6347T>A (p.Met2116Lys)
c.3402T>A
n.349T>A
c.5945T>A (p.Met1982Lys)
15g.40651527T>CCA391773282KNL1c.6269T>C (p.Met2090Thr)
c.6347T>C (p.Met2116Thr)
c.3402T>C
n.349T>C
c.5945T>C (p.Met1982Thr)
 dbSNP gnomAD v3 gnomAD v4
15g.40651527T>GCA391773283KNL1c.6269T>G (p.Met2090Arg)
c.6347T>G (p.Met2116Arg)
c.3402T>G
n.349T>G
c.5945T>G (p.Met1982Arg)
15g.40651527T=CA2171877493KNL1c.6269T= (p.Met2090=)
c.6347T= (p.Met2116=)
c.3402T=
n.349T=
c.5945T= (p.Met1982=)
15g.40651528G>ACA391773285KNL1c.6270G>A (p.Met2090Ile)
c.6348G>A (p.Met2116Ile)
c.3403G>A
n.350G>A
c.5946G>A (p.Met1982Ile)
15g.40651528G>CCA391773286KNL1c.6270G>C (p.Met2090Ile)
c.6348G>C (p.Met2116Ile)
c.3403G>C
n.350G>C
c.5946G>C (p.Met1982Ile)
 gnomAD v4
15g.40651528G>TCA391773287KNL1c.6270G>T (p.Met2090Ile)
c.6348G>T (p.Met2116Ile)
c.3403G>T
n.350G>T
c.5946G>T (p.Met1982Ile)
15g.40651529C>ACA391773420KNL1c.6271C>A (p.Gln2091Lys)
c.6349C>A (p.Gln2117Lys)
c.3404C>A
n.351C>A
c.5947C>A (p.Gln1983Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.40651529C=CA2171877494KNL1c.6271C= (p.Gln2091=)
c.6349C= (p.Gln2117=)
c.3404C=
n.351C=
c.5947C= (p.Gln1983=)
15g.40651529C>GCA391773421KNL1c.6271C>G (p.Gln2091Glu)
c.6349C>G (p.Gln2117Glu)
c.3404C>G
n.351C>G
c.5947C>G (p.Gln1983Glu)
15g.40651529C>TCA391773423KNL1c.6271C>T (p.Gln2091Ter)
c.6349C>T (p.Gln2117Ter)
c.3404C>T
n.351C>T
c.5947C>T (p.Gln1983Ter)
 gnomAD v4
15g.40651530A>CCA391773425KNL1c.6272A>C (p.Gln2091Pro)
c.6350A>C (p.Gln2117Pro)
c.3405A>C
n.352A>C
c.5948A>C (p.Gln1983Pro)
15g.40651530A>GCA391773426KNL1c.6272A>G (p.Gln2091Arg)
c.6350A>G (p.Gln2117Arg)
c.3405A>G
n.352A>G
c.5948A>G (p.Gln1983Arg)
15g.40651530A>TCA391773428KNL1c.6272A>T (p.Gln2091Leu)
c.6350A>T (p.Gln2117Leu)
c.3405A>T
n.352A>T
c.5948A>T (p.Gln1983Leu)
15g.40651534dupCA645577852KNL1c.6276dup (p.Gln2093ThrfsTer4)
c.6354dup (p.Gln2119ThrfsTer4)
c.3409dup
n.356dup
c.5952dup (p.Gln1985ThrfsTer4)
 COSMIC COSMIC
15g.40651534delCA2627840403KNL1c.6276del (p.Lys2092AsnfsTer13)
c.6354del (p.Lys2118AsnfsTer13)
c.3409del
n.356del
c.5952del (p.Lys1984AsnfsTer13)
 gnomAD v4
15g.40651531A=CA2171877495KNL1c.6273A= (p.Gln2091=)
c.6351A= (p.Gln2117=)
c.3406A=
n.353A=
c.5949A= (p.Gln1983=)
15g.40651531A>CCA391773430KNL1c.6273A>C (p.Gln2091His)
c.6351A>C (p.Gln2117His)
c.3406A>C
n.353A>C
c.5949A>C (p.Gln1983His)
15g.40651531A>GCA489773010KNL1c.6273A>G (p.Gln2091=)
c.6351A>G (p.Gln2117=)
c.3406A>G
n.353A>G
c.5949A>G (p.Gln1983=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.40651531A>TCA391773431KNL1c.6273A>T (p.Gln2091His)
c.6351A>T (p.Gln2117His)
c.3406A>T
n.353A>T
c.5949A>T (p.Gln1983His)
15g.40651532A>CCA391773435KNL1c.6274A>C (p.Lys2092Gln)
c.6352A>C (p.Lys2118Gln)
c.3407A>C
n.354A>C
c.5950A>C (p.Lys1984Gln)
15g.40651532A>GCA391773437KNL1c.6274A>G (p.Lys2092Glu)
c.6352A>G (p.Lys2118Glu)
c.3407A>G
n.354A>G
c.5950A>G (p.Lys1984Glu)
15g.40651532A>TCA391773433KNL1c.6274A>T (p.Lys2092Ter)
c.6352A>T (p.Lys2118Ter)
c.3407A>T
n.354A>T
c.5950A>T (p.Lys1984Ter)
15g.40651533A>CCA391773439KNL1c.6275A>C (p.Lys2092Thr)
c.6353A>C (p.Lys2118Thr)
c.3408A>C
n.355A>C
c.5951A>C (p.Lys1984Thr)
15g.40651533A>GCA391773441KNL1c.6275A>G (p.Lys2092Arg)
c.6353A>G (p.Lys2118Arg)
c.3408A>G
n.355A>G
c.5951A>G (p.Lys1984Arg)
15g.40651533A>TCA391773443KNL1c.6275A>T (p.Lys2092Ile)
c.6353A>T (p.Lys2118Ile)
c.3408A>T
n.355A>T
c.5951A>T (p.Lys1984Ile)
15g.40651534A>CCA391773445KNL1c.6276A>C (p.Lys2092Asn)
c.6354A>C (p.Lys2118Asn)
c.3409A>C
n.356A>C
c.5952A>C (p.Lys1984Asn)
15g.40651534A>GCA489773011KNL1c.6276A>G (p.Lys2092=)
c.6354A>G (p.Lys2118=)
c.3409A>G
n.356A>G
c.5952A>G (p.Lys1984=)
 gnomAD v4
15g.40651534A>TCA391773447KNL1c.6276A>T (p.Lys2092Asn)
c.6354A>T (p.Lys2118Asn)
c.3409A>T
n.356A>T
c.5952A>T (p.Lys1984Asn)
15g.40651535C>ACA391773450KNL1c.6277C>A (p.Gln2093Lys)
c.6355C>A (p.Gln2119Lys)
c.3410C>A
n.357C>A
c.5953C>A (p.Gln1985Lys)
15g.40651535C>GCA391773452KNL1c.6277C>G (p.Gln2093Glu)
c.6355C>G (p.Gln2119Glu)
c.3410C>G
n.357C>G
c.5953C>G (p.Gln1985Glu)
15g.40651535C>TCA391773454KNL1c.6277C>T (p.Gln2093Ter)
c.6355C>T (p.Gln2119Ter)
c.3410C>T
n.357C>T
c.5953C>T (p.Gln1985Ter)
15g.40651536A>CCA391773455KNL1c.6278A>C (p.Gln2093Pro)
c.6356A>C (p.Gln2119Pro)
c.3411A>C
n.358A>C
c.5954A>C (p.Gln1985Pro)
15g.40651536A>GCA391773457KNL1c.6278A>G (p.Gln2093Arg)
c.6356A>G (p.Gln2119Arg)
c.3411A>G
n.358A>G
c.5954A>G (p.Gln1985Arg)
15g.40651536A>TCA391773459KNL1c.6278A>T (p.Gln2093Leu)
c.6356A>T (p.Gln2119Leu)
c.3411A>T
n.358A>T
c.5954A>T (p.Gln1985Leu)
15g.40651537A>CCA391773460KNL1c.6279A>C (p.Gln2093His)
c.6357A>C (p.Gln2119His)
c.3412A>C
n.359A>C
c.5955A>C (p.Gln1985His)
15g.40651537A>GCA489773012KNL1c.6279A>G (p.Gln2093=)
c.6357A>G (p.Gln2119=)
c.3412A>G
n.359A>G
c.5955A>G (p.Gln1985=)
15g.40651537A>TCA391773461KNL1c.6279A>T (p.Gln2093His)
c.6357A>T (p.Gln2119His)
c.3412A>T
n.359A>T
c.5955A>T (p.Gln1985His)
15g.40651538A>CCA489773013KNL1c.6280A>C (p.Arg2094=)
c.6358A>C (p.Arg2120=)
c.3413A>C
n.360A>C
c.5956A>C (p.Arg1986=)
15g.40651538A>GCA391773466KNL1c.6280A>G (p.Arg2094Gly)
c.6358A>G (p.Arg2120Gly)
c.3413A>G
n.360A>G
c.5956A>G (p.Arg1986Gly)
15g.40651538A>TCA391773464KNL1c.6280A>T (p.Arg2094Ter)
c.6358A>T (p.Arg2120Ter)
c.3413A>T
n.360A>T
c.5956A>T (p.Arg1986Ter)
15g.40651539G>ACA391773471KNL1c.6281G>A (p.Arg2094Lys)
c.6359G>A (p.Arg2120Lys)
c.3414G>A
n.361G>A
c.5957G>A (p.Arg1986Lys)
15g.40651539G>CCA391773473KNL1c.6281G>C (p.Arg2094Thr)
c.6359G>C (p.Arg2120Thr)
c.3414G>C
n.361G>C
c.5957G>C (p.Arg1986Thr)
15g.40651539G>TCA391773475KNL1c.6281G>T (p.Arg2094Ile)
c.6359G>T (p.Arg2120Ile)
c.3414G>T
n.361G>T
c.5957G>T (p.Arg1986Ile)
 gnomAD v4
15g.40651540A>CCA391773477KNL1c.6282A>C (p.Arg2094Ser)
c.6360A>C (p.Arg2120Ser)
c.3415A>C
n.362A>C
c.5958A>C (p.Arg1986Ser)
15g.40651540A>GCA489773014KNL1c.6282A>G (p.Arg2094=)
c.6360A>G (p.Arg2120=)
c.3415A>G
n.362A>G
c.5958A>G (p.Arg1986=)
15g.40651540A>TCA391773479KNL1c.6282A>T (p.Arg2094Ser)
c.6360A>T (p.Arg2120Ser)
c.3415A>T
n.362A>T
c.5958A>T (p.Arg1986Ser)
15g.40651541A=CA2171877496KNL1c.6283A= (p.Asn2095=)
c.6361A= (p.Asn2121=)
c.3416A=
n.363A=
c.5959A= (p.Asn1987=)
15g.40651541A>CCA391773482KNL1c.6283A>C (p.Asn2095His)
c.6361A>C (p.Asn2121His)
c.3416A>C
n.363A>C
c.5959A>C (p.Asn1987His)
15g.40651541A>GCA391773484KNL1c.6283A>G (p.Asn2095Asp)
c.6361A>G (p.Asn2121Asp)
c.3416A>G
n.363A>G
c.5959A>G (p.Asn1987Asp)
 dbSNP
15g.40651541A>TCA391773485KNL1c.6283A>T (p.Asn2095Tyr)
c.6361A>T (p.Asn2121Tyr)
c.3416A>T
n.363A>T
c.5959A>T (p.Asn1987Tyr)
15g.40651542A=CA2171877497KNL1c.6284A= (p.Asn2095=)
c.6362A= (p.Asn2121=)
c.3417A=
n.364A=
c.5960A= (p.Asn1987=)
15g.40651542A>CCA391773487KNL1c.6284A>C (p.Asn2095Thr)
c.6362A>C (p.Asn2121Thr)
c.3417A>C
n.364A>C
c.5960A>C (p.Asn1987Thr)
15g.40651542A>GCA7483665KNL1c.6284A>G (p.Asn2095Ser)
c.6362A>G (p.Asn2121Ser)
c.3417A>G
n.364A>G
c.5960A>G (p.Asn1987Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40651542A>TCA391773490KNL1c.6284A>T (p.Asn2095Ile)
c.6362A>T (p.Asn2121Ile)
c.3417A>T
n.364A>T
c.5960A>T (p.Asn1987Ile)
15g.40651543T>ACA391773491KNL1c.6285T>A (p.Asn2095Lys)
c.6363T>A (p.Asn2121Lys)
c.3418T>A
n.365T>A
c.5961T>A (p.Asn1987Lys)
15g.40651543T>CCA7483666KNL1c.6285T>C (p.Asn2095=)
c.6363T>C (p.Asn2121=)
c.3418T>C
n.365T>C
c.5961T>C (p.Asn1987=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40651543T>GCA391773493KNL1c.6285T>G (p.Asn2095Lys)
c.6363T>G (p.Asn2121Lys)
c.3418T>G
n.365T>G
c.5961T>G (p.Asn1987Lys)
15g.40651543T=CA2171877498KNL1c.6285T= (p.Asn2095=)
c.6363T= (p.Asn2121=)
c.3418T=
n.365T=
c.5961T= (p.Asn1987=)
15g.40651544A=CA2171877499KNL1c.6286A= (p.Arg2096=)
c.6364A= (p.Arg2122=)
c.3419A=
n.366A=
c.5962A= (p.Arg1988=)
15g.40651544A>CCA489773015KNL1c.6286A>C (p.Arg2096=)
c.6364A>C (p.Arg2122=)
c.3419A>C
n.366A>C
c.5962A>C (p.Arg1988=)
15g.40651544A>GCA7483667KNL1c.6286A>G (p.Arg2096Gly)
c.6364A>G (p.Arg2122Gly)
c.3419A>G
n.366A>G
c.5962A>G (p.Arg1988Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.40651544A>TCA391773496KNL1c.6286A>T (p.Arg2096Ter)
c.6364A>T (p.Arg2122Ter)
c.3419A>T
n.366A>T
c.5962A>T (p.Arg1988Ter)
15g.40651545G>ACA391773499KNL1c.6287G>A (p.Arg2096Lys)
c.6365G>A (p.Arg2122Lys)
c.3420G>A
n.367G>A
c.5963G>A (p.Arg1988Lys)
15g.40651545G>CCA391773502KNL1c.6287G>C (p.Arg2096Thr)
c.6365G>C (p.Arg2122Thr)
c.3420G>C
n.367G>C
c.5963G>C (p.Arg1988Thr)
15g.40651545G>TCA391773501KNL1c.6287G>T (p.Arg2096Ile)
c.6365G>T (p.Arg2122Ile)
c.3420G>T
n.367G>T
c.5963G>T (p.Arg1988Ile)
 COSMIC COSMIC
15g.40651546A>CCA391773504KNL1c.6288A>C (p.Arg2096Ser)
c.6366A>C (p.Arg2122Ser)
c.3421A>C
n.368A>C
c.5964A>C (p.Arg1988Ser)
15g.40651546A>GCA489773016KNL1c.6288A>G (p.Arg2096=)
c.6366A>G (p.Arg2122=)
c.3421A>G
n.368A>G
c.5964A>G (p.Arg1988=)
15g.40651546A>TCA391773506KNL1c.6288A>T (p.Arg2096Ser)
c.6366A>T (p.Arg2122Ser)
c.3421A>T
n.368A>T
c.5964A>T (p.Arg1988Ser)
15g.40651547A=CA2171877500KNL1c.6289A= (p.Thr2097=)
c.6367A= (p.Thr2123=)
c.3422A=
n.369A=
c.5965A= (p.Thr1989=)
15g.40651547A>CCA391773508KNL1c.6289A>C (p.Thr2097Pro)
c.6367A>C (p.Thr2123Pro)
c.3422A>C
n.369A>C
c.5965A>C (p.Thr1989Pro)
15g.40651547A>GCA391773512KNL1c.6289A>G (p.Thr2097Ala)
c.6367A>G (p.Thr2123Ala)
c.3422A>G
n.369A>G
c.5965A>G (p.Thr1989Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.40651547A>TCA391773510KNL1c.6289A>T (p.Thr2097Ser)
c.6367A>T (p.Thr2123Ser)
c.3422A>T
n.369A>T
c.5965A>T (p.Thr1989Ser)
15g.40651548C>ACA268840180KNL1c.6290C>A (p.Thr2097Asn)
c.6368C>A (p.Thr2123Asn)
c.3423C>A
n.370C>A
c.5966C>A (p.Thr1989Asn)
 dbSNP
15g.40651548C=CA2171877501KNL1c.6290C= (p.Thr2097=)
c.6368C= (p.Thr2123=)
c.3423C=
n.370C=
c.5966C= (p.Thr1989=)
15g.40651548C>GCA391773514KNL1c.6290C>G (p.Thr2097Ser)
c.6368C>G (p.Thr2123Ser)
c.3423C>G
n.370C>G
c.5966C>G (p.Thr1989Ser)
15g.40651548C>TCA391773515KNL1c.6290C>T (p.Thr2097Ile)
c.6368C>T (p.Thr2123Ile)
c.3423C>T
n.370C>T
c.5966C>T (p.Thr1989Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.40651549T>ACA489773017KNL1c.6291T>A (p.Thr2097=)
c.6369T>A (p.Thr2123=)
c.3424T>A
n.371T>A
c.5967T>A (p.Thr1989=)
15g.40651549T>CCA489773018KNL1c.6291T>C (p.Thr2097=)
c.6369T>C (p.Thr2123=)
c.3424T>C
n.371T>C
c.5967T>C (p.Thr1989=)
 dbSNP gnomAD v2 gnomAD v4
15g.40651549T>GCA489773019KNL1c.6291T>G (p.Thr2097=)
c.6369T>G (p.Thr2123=)
c.3424T>G
n.371T>G
c.5967T>G (p.Thr1989=)
15g.40651549T=CA2171877502KNL1c.6291T= (p.Thr2097=)
c.6369T= (p.Thr2123=)
c.3424T=
n.371T=
c.5967T= (p.Thr1989=)
15g.40651550G>ACA391773517KNL1c.6292G>A (p.Glu2098Lys)
c.6370G>A (p.Glu2124Lys)
c.3425G>A
n.372G>A
c.5968G>A (p.Glu1990Lys)
 COSMIC COSMIC
15g.40651550G>CCA391773519KNL1c.6292G>C (p.Glu2098Gln)
c.6370G>C (p.Glu2124Gln)
c.3425G>C
n.372G>C
c.5968G>C (p.Glu1990Gln)
15g.40651550G>TCA391773521KNL1c.6292G>T (p.Glu2098Ter)
c.6370G>T (p.Glu2124Ter)
c.3425G>T
n.372G>T
c.5968G>T (p.Glu1990Ter)
15g.40651551A>CCA391773523KNL1c.6293A>C (p.Glu2098Ala)
c.6371A>C (p.Glu2124Ala)
c.3426A>C
n.373A>C
c.5969A>C (p.Glu1990Ala)
15g.40651551A>GCA391773524KNL1c.6293A>G (p.Glu2098Gly)
c.6371A>G (p.Glu2124Gly)
c.3426A>G
n.373A>G
c.5969A>G (p.Glu1990Gly)
15g.40651551A>TCA391773526KNL1c.6293A>T (p.Glu2098Val)
c.6371A>T (p.Glu2124Val)
c.3426A>T
n.373A>T
c.5969A>T (p.Glu1990Val)
15g.40651552A>CCA391773528KNL1c.6294A>C (p.Glu2098Asp)
c.6372A>C (p.Glu2124Asp)
c.3427A>C
n.374A>C
c.5970A>C (p.Glu1990Asp)
15g.40651552A>GCA489773020KNL1c.6294A>G (p.Glu2098=)
c.6372A>G (p.Glu2124=)
c.3427A>G
n.374A>G
c.5970A>G (p.Glu1990=)
 gnomAD v4
15g.40651552A>TCA391773530KNL1c.6294A>T (p.Glu2098Asp)
c.6372A>T (p.Glu2124Asp)
c.3427A>T
n.374A>T
c.5970A>T (p.Glu1990Asp)
15g.40651553G>ACA391773536KNL1c.6295G>A (p.Glu2099Lys)
c.6373G>A (p.Glu2125Lys)
c.3428G>A
n.375G>A
c.5971G>A (p.Glu1991Lys)
15g.40651553G>CCA391773534KNL1c.6295G>C (p.Glu2099Gln)
c.6373G>C (p.Glu2125Gln)
c.3428G>C
n.375G>C
c.5971G>C (p.Glu1991Gln)
15g.40651553G>TCA391773532KNL1c.6295G>T (p.Glu2099Ter)
c.6373G>T (p.Glu2125Ter)
c.3428G>T
n.375G>T
c.5971G>T (p.Glu1991Ter)
15g.40651554A>CCA391773538KNL1c.6296A>C (p.Glu2099Ala)
c.6374A>C (p.Glu2125Ala)
c.3429A>C
n.376A>C
c.5972A>C (p.Glu1991Ala)
15g.40651554A>GCA391773540KNL1c.6296A>G (p.Glu2099Gly)
c.6374A>G (p.Glu2125Gly)
c.3429A>G
n.376A>G
c.5972A>G (p.Glu1991Gly)
 gnomAD v4
15g.40651554A>TCA391773542KNL1c.6296A>T (p.Glu2099Val)
c.6374A>T (p.Glu2125Val)
c.3429A>T
n.376A>T
c.5972A>T (p.Glu1991Val)
15g.40651555G>ACA7483669KNL1c.6297G>A (p.Glu2099=)
c.6375G>A (p.Glu2125=)
c.3430G>A
n.377G>A
c.5973G>A (p.Glu1991=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.40651555G>CCA7483668KNL1c.6297G>C (p.Glu2099Asp)
c.6375G>C (p.Glu2125Asp)
c.3430G>C
n.377G>C
c.5973G>C (p.Glu1991Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.40651555G=CA2171877503KNL1c.6297G= (p.Glu2099=)
c.6375G= (p.Glu2125=)
c.3430G=
n.377G=
c.5973G= (p.Glu1991=)
15g.40651555G>TCA391773546KNL1c.6297G>T (p.Glu2099Asp)
c.6375G>T (p.Glu2125Asp)
c.3430G>T
n.377G>T
c.5973G>T (p.Glu1991Asp)
15g.40651556C>ACA391773548KNL1c.6298C>A (p.Leu2100Ile)
c.6376C>A (p.Leu2126Ile)
c.3431C>A
n.378C>A
c.5974C>A (p.Leu1992Ile)
 gnomAD v4
15g.40651556C>GCA391773550KNL1c.6298C>G (p.Leu2100Val)
c.6376C>G (p.Leu2126Val)
c.3431C>G
n.378C>G
c.5974C>G (p.Leu1992Val)
15g.40651556C>TCA489773021KNL1c.6298C>T (p.Leu2100=)
c.6376C>T (p.Leu2126=)
c.3431C>T
n.378C>T
c.5974C>T (p.Leu1992=)
15g.40651557T>ACA391773552KNL1c.6299T>A (p.Leu2100Gln)
c.6377T>A (p.Leu2126Gln)
c.3432T>A
n.379T>A
c.5975T>A (p.Leu1992Gln)
 dbSNP
15g.40651557T>CCA391773554KNL1c.6299T>C (p.Leu2100Pro)
c.6377T>C (p.Leu2126Pro)
c.3432T>C
n.379T>C
c.5975T>C (p.Leu1992Pro)
15g.40651557T>GCA391773556KNL1c.6299T>G (p.Leu2100Arg)
c.6377T>G (p.Leu2126Arg)
c.3432T>G
n.379T>G
c.5975T>G (p.Leu1992Arg)
15g.40651557T=CA2171877504KNL1c.6299T= (p.Leu2100=)
c.6377T= (p.Leu2126=)
c.3432T=
n.379T=
c.5975T= (p.Leu1992=)
15g.40651558A=CA2171877505KNL1c.6300A= (p.Leu2100=)
c.6378A= (p.Leu2126=)
c.3433A=
n.380A=
c.5976A= (p.Leu1992=)
15g.40651558A>CCA489773022KNL1c.6300A>C (p.Leu2100=)
c.6378A>C (p.Leu2126=)
c.3433A>C
n.380A>C
c.5976A>C (p.Leu1992=)
15g.40651558A>GCA7483670KNL1c.6300A>G (p.Leu2100=)
c.6378A>G (p.Leu2126=)
c.3433A>G
n.380A>G
c.5976A>G (p.Leu1992=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40651558A>TCA489773023KNL1c.6300A>T (p.Leu2100=)
c.6378A>T (p.Leu2126=)
c.3433A>T
n.380A>T
c.5976A>T (p.Leu1992=)
15g.40651559C>ACA391773558KNL1c.6301C>A (p.Leu2101Met)
c.6379C>A (p.Leu2127Met)
c.3434C>A
n.381C>A
c.5977C>A (p.Leu1993Met)
15g.40651559C>GCA391773560KNL1c.6301C>G (p.Leu2101Val)
c.6379C>G (p.Leu2127Val)
c.3434C>G
n.381C>G
c.5977C>G (p.Leu1993Val)
 gnomAD v4
15g.40651559C>TCA489773024KNL1c.6301C>T (p.Leu2101=)
c.6379C>T (p.Leu2127=)
c.3434C>T
n.381C>T
c.5977C>T (p.Leu1993=)
 gnomAD v4
15g.40651560T>ACA391773563KNL1c.6302T>A (p.Leu2101Gln)
c.6380T>A (p.Leu2127Gln)
c.3435T>A
n.382T>A
c.5978T>A (p.Leu1993Gln)
15g.40651560T>CCA391773564KNL1c.6302T>C (p.Leu2101Pro)
c.6380T>C (p.Leu2127Pro)
c.3435T>C
n.382T>C
c.5978T>C (p.Leu1993Pro)
15g.40651560T>GCA391773566KNL1c.6302T>G (p.Leu2101Arg)
c.6380T>G (p.Leu2127Arg)
c.3435T>G
n.382T>G
c.5978T>G (p.Leu1993Arg)
15g.40651560_40651561delinsTGCA2171877506KNL1c.6302_6303delinsTG (p.Leu2101=)
c.6380_6381delinsTG (p.Leu2127=)
c.3435_3436delinsTG
n.382_383delinsTG
c.5978_5979delinsTG (p.Leu1993=)
15g.40651561G>ACA489773025KNL1c.6303G>A (p.Leu2101=)
c.6381G>A (p.Leu2127=)
c.3436G>A
n.383G>A
c.5979G>A (p.Leu1993=)
 gnomAD v4
15g.40651561G>CCA489773026KNL1c.6303G>C (p.Leu2101=)
c.6381G>C (p.Leu2127=)
c.3436G>C
n.383G>C
c.5979G>C (p.Leu1993=)
15g.40651561G>TCA489773027KNL1c.6303G>T (p.Leu2101=)
c.6381G>T (p.Leu2127=)
c.3436G>T
n.383G>T
c.5979G>T (p.Leu1993=)
 gnomAD v4
15g.40651562delCA16619924KNL1c.6304del (p.Asp2102IlefsTer3)
c.6382del (p.Asp2128IlefsTer3)
c.3437del
n.384del
c.5980del (p.Asp1994IlefsTer3)
 ClinVar dbSNP
15g.40651562G>ACA391773568KNL1c.6304G>A (p.Asp2102Asn)
c.6382G>A (p.Asp2128Asn)
c.3437G>A
n.384G>A
c.5980G>A (p.Asp1994Asn)
15g.40651562G>CCA391773569KNL1c.6304G>C (p.Asp2102His)
c.6382G>C (p.Asp2128His)
c.3437G>C
n.384G>C
c.5980G>C (p.Asp1994His)
15g.40651562G>TCA391773571KNL1c.6304G>T (p.Asp2102Tyr)
c.6382G>T (p.Asp2128Tyr)
c.3437G>T
n.384G>T
c.5980G>T (p.Asp1994Tyr)
 gnomAD v4
15g.40651563A>CCA391773578KNL1c.6305A>C (p.Asp2102Ala)
c.6383A>C (p.Asp2128Ala)
c.3438A>C
n.385A>C
c.5981A>C (p.Asp1994Ala)
15g.40651563A>GCA391773574KNL1c.6305A>G (p.Asp2102Gly)
c.6383A>G (p.Asp2128Gly)
c.3438A>G
n.385A>G
c.5981A>G (p.Asp1994Gly)
 gnomAD v4
15g.40651563A>TCA391773575KNL1c.6305A>T (p.Asp2102Val)
c.6383A>T (p.Asp2128Val)
c.3438A>T
n.385A>T
c.5981A>T (p.Asp1994Val)
15g.40651564T>ACA391773579KNL1c.6306T>A (p.Asp2102Glu)
c.6384T>A (p.Asp2128Glu)
c.3439T>A
n.386T>A
c.5982T>A (p.Asp1994Glu)
15g.40651564T>CCA489773028KNL1c.6306T>C (p.Asp2102=)
c.6384T>C (p.Asp2128=)
c.3439T>C
n.386T>C
c.5982T>C (p.Asp1994=)
15g.40651564T>GCA391773580KNL1c.6306T>G (p.Asp2102Glu)
c.6384T>G (p.Asp2128Glu)
c.3439T>G
n.386T>G
c.5982T>G (p.Asp1994Glu)
15g.40651565C>ACA391773583KNL1c.6307C>A (p.Gln2103Lys)
c.6385C>A (p.Gln2129Lys)
c.3440C>A
n.387C>A
c.5983C>A (p.Gln1995Lys)
 gnomAD v4
15g.40651565C>GCA391773585KNL1c.6307C>G (p.Gln2103Glu)
c.6385C>G (p.Gln2129Glu)
c.3440C>G
n.387C>G
c.5983C>G (p.Gln1995Glu)
15g.40651565C>TCA391773586KNL1c.6307C>T (p.Gln2103Ter)
c.6385C>T (p.Gln2129Ter)
c.3440C>T
n.387C>T
c.5983C>T (p.Gln1995Ter)
15g.40651566A=CA2171877507KNL1c.6308A= (p.Gln2103=)
c.6386A= (p.Gln2129=)
c.3441A=
n.388A=
c.5984A= (p.Gln1995=)
15g.40651566A>CCA391773588KNL1c.6308A>C (p.Gln2103Pro)
c.6386A>C (p.Gln2129Pro)
c.3441A>C
n.388A>C
c.5984A>C (p.Gln1995Pro)
15g.40651566A>GCA391773592KNL1c.6308A>G (p.Gln2103Arg)
c.6386A>G (p.Gln2129Arg)
c.3441A>G
n.388A>G
c.5984A>G (p.Gln1995Arg)
 dbSNP
15g.40651566A>TCA391773590KNL1c.6308A>T (p.Gln2103Leu)
c.6386A>T (p.Gln2129Leu)
c.3441A>T
n.388A>T
c.5984A>T (p.Gln1995Leu)

Number of alleles fetched