Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.40651462T>CCA7483656KNL1c.6213-9T>C (n.6213-9T>C)
c.6291-9T>C (n.6291-9T>C)
c.3346-9T>C
n.293-9T>C
c.5889-9T>C (n.5889-9T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.40651462T>GCA712763278KNL1c.6213-9T>G (n.6213-9T>G)
c.6291-9T>G (n.6291-9T>G)
c.3346-9T>G
n.293-9T>G
c.5889-9T>G (n.5889-9T>G)
dbSNP gnomAD v3 gnomAD v4
15g.40651462T=CA2171877467KNL1c.6213-9T= (n.6213-9T=)
c.6291-9T= (n.6291-9T=)
c.3346-9T=
n.293-9T=
c.5889-9T= (n.5889-9T=)
15g.40651465T>CCA2627840306KNL1c.6213-6T>C (n.6213-6T>C)
c.6291-6T>C (n.6291-6T>C)
c.3346-6T>C
n.293-6T>C
c.5889-6T>C (n.5889-6T>C)
gnomAD v4
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=)

Number of alleles fetched