Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.40651469A>C | CA391773148 | KNL1 | c.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) | |
15 | g.40651469A>G | CA391773149 | KNL1 | c.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 |
15 | g.40651469A>T | CA391773147 | KNL1 | c.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) | |
15 | g.40651470G>A | CA391773152 | KNL1 | c.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 |
15 | g.40651470G>C | CA391773150 | KNL1 | c.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) | |
15 | g.40651470G>T | CA391773151 | KNL1 | c.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) | |
15 | g.40651471A>C | CA391773153 | KNL1 | c.6213A>C (p.Arg2071Ser) c.6291A>C (p.Arg2097Ser) c.3346A>C n.293A>C c.5889A>C (p.Arg1963Ser) | |
15 | g.40651471A>G | CA489772926 | KNL1 | c.6213A>G (p.Arg2071=) c.6291A>G (p.Arg2097=) c.3346A>G n.293A>G c.5889A>G (p.Arg1963=) | |
15 | g.40651471A>T | CA391773154 | KNL1 | c.6213A>T (p.Arg2071Ser) c.6291A>T (p.Arg2097Ser) c.3346A>T n.293A>T c.5889A>T (p.Arg1963Ser) | |
15 | g.40651472A= | CA2171877470 | KNL1 | c.6214A= (p.Asn2072=) c.6292A= (p.Asn2098=) c.3347A= n.294A= c.5890A= (p.Asn1964=) | |
15 | g.40651472A>C | CA391773155 | KNL1 | c.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 |
15 | g.40651472A>G | CA391773156 | KNL1 | c.6214A>G (p.Asn2072Asp) c.6292A>G (p.Asn2098Asp) c.3347A>G n.294A>G c.5890A>G (p.Asn1964Asp) | |
15 | g.40651472A>T | CA391773157 | KNL1 | c.6214A>T (p.Asn2072Tyr) c.6292A>T (p.Asn2098Tyr) c.3347A>T n.294A>T c.5890A>T (p.Asn1964Tyr) | |
15 | g.40651473A= | CA2171877471 | KNL1 | c.6215A= (p.Asn2072=) c.6293A= (p.Asn2098=) c.3348A= n.295A= c.5891A= (p.Asn1964=) | |
15 | g.40651473A>C | CA391773158 | KNL1 | c.6215A>C (p.Asn2072Thr) c.6293A>C (p.Asn2098Thr) c.3348A>C n.295A>C c.5891A>C (p.Asn1964Thr) | |
15 | g.40651473A>G | CA7483657 | KNL1 | c.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 |
15 | g.40651473A>T | CA391773159 | KNL1 | c.6215A>T (p.Asn2072Ile) c.6293A>T (p.Asn2098Ile) c.3348A>T n.295A>T c.5891A>T (p.Asn1964Ile) | |
15 | g.40651474T>A | CA391773160 | KNL1 | c.6216T>A (p.Asn2072Lys) c.6294T>A (p.Asn2098Lys) c.3349T>A n.296T>A c.5892T>A (p.Asn1964Lys) | |
15 | g.40651474T>C | CA489772934 | KNL1 | c.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 |
15 | g.40651474T>G | CA391773161 | KNL1 | c.6216T>G (p.Asn2072Lys) c.6294T>G (p.Asn2098Lys) c.3349T>G n.296T>G c.5892T>G (p.Asn1964Lys) | |
15 | g.40651474T= | CA2171877472 | KNL1 | c.6216T= (p.Asn2072=) c.6294T= (p.Asn2098=) c.3349T= n.296T= c.5892T= (p.Asn1964=) | |
15 | g.40651475C>A | CA391773164 | KNL1 | c.6217C>A (p.Leu2073Ile) c.6295C>A (p.Leu2099Ile) c.3350C>A n.297C>A c.5893C>A (p.Leu1965Ile) | gnomAD v4 |
15 | g.40651475C= | CA2171877473 | KNL1 | c.6217C= (p.Leu2073=) c.6295C= (p.Leu2099=) c.3350C= n.297C= c.5893C= (p.Leu1965=) | |
15 | g.40651475C>G | CA391773162 | KNL1 | c.6217C>G (p.Leu2073Val) c.6295C>G (p.Leu2099Val) c.3350C>G n.297C>G c.5893C>G (p.Leu1965Val) | |
15 | g.40651475C>T | CA391773163 | KNL1 | c.6217C>T (p.Leu2073Phe) c.6295C>T (p.Leu2099Phe) c.3350C>T n.297C>T c.5893C>T (p.Leu1965Phe) | dbSNP |
15 | g.40651476T>A | CA391773165 | KNL1 | c.6218T>A (p.Leu2073His) c.6296T>A (p.Leu2099His) c.3351T>A n.298T>A c.5894T>A (p.Leu1965His) | |
15 | g.40651476T>C | CA391773166 | KNL1 | c.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 |
15 | g.40651476T>G | CA391773167 | KNL1 | c.6218T>G (p.Leu2073Arg) c.6296T>G (p.Leu2099Arg) c.3351T>G n.298T>G c.5894T>G (p.Leu1965Arg) | |
15 | g.40651476T= | CA2171877474 | KNL1 | c.6218T= (p.Leu2073=) c.6296T= (p.Leu2099=) c.3351T= n.298T= c.5894T= (p.Leu1965=) | |
15 | g.40651477C>A | CA489772940 | KNL1 | c.6219C>A (p.Leu2073=) c.6297C>A (p.Leu2099=) c.3352C>A n.299C>A c.5895C>A (p.Leu1965=) | |
15 | g.40651477C= | CA2171877475 | KNL1 | c.6219C= (p.Leu2073=) c.6297C= (p.Leu2099=) c.3352C= n.299C= c.5895C= (p.Leu1965=) | |
15 | g.40651477C>G | CA7483658 | KNL1 | c.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 |
15 | g.40651477C>T | CA489772941 | KNL1 | c.6219C>T (p.Leu2073=) c.6297C>T (p.Leu2099=) c.3352C>T n.299C>T c.5895C>T (p.Leu1965=) | gnomAD v4 |
15 | g.40651478T>A | CA391773168 | KNL1 | c.6220T>A (p.Leu2074Ile) c.6298T>A (p.Leu2100Ile) c.3353T>A n.300T>A c.5896T>A (p.Leu1966Ile) | |
15 | g.40651478T>C | CA489772942 | KNL1 | c.6220T>C (p.Leu2074=) c.6298T>C (p.Leu2100=) c.3353T>C n.300T>C c.5896T>C (p.Leu1966=) | |
15 | g.40651478T>G | CA391773169 | KNL1 | c.6220T>G (p.Leu2074Val) c.6298T>G (p.Leu2100Val) c.3353T>G n.300T>G c.5896T>G (p.Leu1966Val) | |
15 | g.40651479T>A | CA391773170 | KNL1 | c.6221T>A (p.Leu2074Ter) c.6299T>A (p.Leu2100Ter) c.3354T>A n.301T>A c.5897T>A (p.Leu1966Ter) | |
15 | g.40651479T>C | CA391773171 | KNL1 | c.6221T>C (p.Leu2074Ser) c.6299T>C (p.Leu2100Ser) c.3354T>C n.301T>C c.5897T>C (p.Leu1966Ser) | gnomAD v4 |
15 | g.40651479T>G | CA391773172 | KNL1 | c.6221T>G (p.Leu2074Ter) c.6299T>G (p.Leu2100Ter) c.3354T>G n.301T>G c.5897T>G (p.Leu1966Ter) | |
15 | g.40651480A>C | CA391773173 | KNL1 | c.6222A>C (p.Leu2074Phe) c.6300A>C (p.Leu2100Phe) c.3355A>C n.302A>C c.5898A>C (p.Leu1966Phe) | |
15 | g.40651480A>G | CA489772949 | KNL1 | c.6222A>G (p.Leu2074=) c.6300A>G (p.Leu2100=) c.3355A>G n.302A>G c.5898A>G (p.Leu1966=) | |
15 | g.40651480A>T | CA391773174 | KNL1 | c.6222A>T (p.Leu2074Phe) c.6300A>T (p.Leu2100Phe) c.3355A>T n.302A>T c.5898A>T (p.Leu1966Phe) | |
15 | g.40651481G>A | CA391773176 | KNL1 | c.6223G>A (p.Glu2075Lys) c.6301G>A (p.Glu2101Lys) c.3356G>A n.303G>A c.5899G>A (p.Glu1967Lys) | |
15 | g.40651481G>C | CA391773177 | KNL1 | c.6223G>C (p.Glu2075Gln) c.6301G>C (p.Glu2101Gln) c.3356G>C n.303G>C c.5899G>C (p.Glu1967Gln) | |
15 | g.40651481G>T | CA391773175 | KNL1 | c.6223G>T (p.Glu2075Ter) c.6301G>T (p.Glu2101Ter) c.3356G>T n.303G>T c.5899G>T (p.Glu1967Ter) | |
15 | g.40651482A>C | CA391773178 | KNL1 | c.6224A>C (p.Glu2075Ala) c.6302A>C (p.Glu2101Ala) c.3357A>C n.304A>C c.5900A>C (p.Glu1967Ala) | |
15 | g.40651482A>G | CA391773179 | KNL1 | c.6224A>G (p.Glu2075Gly) c.6302A>G (p.Glu2101Gly) c.3357A>G n.304A>G c.5900A>G (p.Glu1967Gly) | |
15 | g.40651482A>T | CA391773180 | KNL1 | c.6224A>T (p.Glu2075Val) c.6302A>T (p.Glu2101Val) c.3357A>T n.304A>T c.5900A>T (p.Glu1967Val) | |
15 | g.40651483A>C | CA391773181 | KNL1 | c.6225A>C (p.Glu2075Asp) c.6303A>C (p.Glu2101Asp) c.3358A>C n.305A>C c.5901A>C (p.Glu1967Asp) | |
15 | g.40651483A>G | CA489772954 | KNL1 | c.6225A>G (p.Glu2075=) c.6303A>G (p.Glu2101=) c.3358A>G n.305A>G c.5901A>G (p.Glu1967=) | |
15 | g.40651483A>T | CA391773182 | KNL1 | c.6225A>T (p.Glu2075Asp) c.6303A>T (p.Glu2101Asp) c.3358A>T n.305A>T c.5901A>T (p.Glu1967Asp) | |
15 | g.40651484C>A | CA391773183 | KNL1 | c.6226C>A (p.Leu2076Met) c.6304C>A (p.Leu2102Met) c.3359C>A n.306C>A c.5902C>A (p.Leu1968Met) | |
15 | g.40651484C>G | CA391773184 | KNL1 | c.6226C>G (p.Leu2076Val) c.6304C>G (p.Leu2102Val) c.3359C>G n.306C>G c.5902C>G (p.Leu1968Val) | |
15 | g.40651484C>T | CA489772958 | KNL1 | c.6226C>T (p.Leu2076=) c.6304C>T (p.Leu2102=) c.3359C>T n.306C>T c.5902C>T (p.Leu1968=) | gnomAD v4 |
15 | g.40651485T>A | CA391773185 | KNL1 | c.6227T>A (p.Leu2076Gln) c.6305T>A (p.Leu2102Gln) c.3360T>A n.307T>A c.5903T>A (p.Leu1968Gln) | |
15 | g.40651485T>C | CA391773186 | KNL1 | c.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 |
15 | g.40651485T>G | CA391773187 | KNL1 | c.6227T>G (p.Leu2076Arg) c.6305T>G (p.Leu2102Arg) c.3360T>G n.307T>G c.5903T>G (p.Leu1968Arg) | |
15 | g.40651485T= | CA2171877476 | KNL1 | c.6227T= (p.Leu2076=) c.6305T= (p.Leu2102=) c.3360T= n.307T= c.5903T= (p.Leu1968=) | |
15 | g.40651486G>A | CA489772964 | KNL1 | c.6228G>A (p.Leu2076=) c.6306G>A (p.Leu2102=) c.3361G>A n.308G>A c.5904G>A (p.Leu1968=) | gnomAD v4 |
15 | g.40651486G>C | CA489772960 | KNL1 | c.6228G>C (p.Leu2076=) c.6306G>C (p.Leu2102=) c.3361G>C n.308G>C c.5904G>C (p.Leu1968=) | |
15 | g.40651486G>T | CA489772959 | KNL1 | c.6228G>T (p.Leu2076=) c.6306G>T (p.Leu2102=) c.3361G>T n.308G>T c.5904G>T (p.Leu1968=) | |
15 | g.40651487G>A | CA391773188 | KNL1 | c.6229G>A (p.Glu2077Lys) c.6307G>A (p.Glu2103Lys) c.3362G>A n.309G>A c.5905G>A (p.Glu1969Lys) | |
15 | g.40651487G>C | CA391773189 | KNL1 | c.6229G>C (p.Glu2077Gln) c.6307G>C (p.Glu2103Gln) c.3362G>C n.309G>C c.5905G>C (p.Glu1969Gln) | |
15 | g.40651487G>T | CA391773190 | KNL1 | c.6229G>T (p.Glu2077Ter) c.6307G>T (p.Glu2103Ter) c.3362G>T n.309G>T c.5905G>T (p.Glu1969Ter) | |
15 | g.40651488A>C | CA391773193 | KNL1 | c.6230A>C (p.Glu2077Ala) c.6308A>C (p.Glu2103Ala) c.3363A>C n.310A>C c.5906A>C (p.Glu1969Ala) | |
15 | g.40651488A>G | CA391773192 | KNL1 | c.6230A>G (p.Glu2077Gly) c.6308A>G (p.Glu2103Gly) c.3363A>G n.310A>G c.5906A>G (p.Glu1969Gly) | gnomAD v4 |
15 | g.40651488A>T | CA391773191 | KNL1 | c.6230A>T (p.Glu2077Val) c.6308A>T (p.Glu2103Val) c.3363A>T n.310A>T c.5906A>T (p.Glu1969Val) | gnomAD v4 |
15 | g.40651489G>A | CA489772968 | KNL1 | c.6231G>A (p.Glu2077=) c.6309G>A (p.Glu2103=) c.3364G>A n.311G>A c.5907G>A (p.Glu1969=) | dbSNP |
15 | g.40651489G>C | CA391773194 | KNL1 | c.6231G>C (p.Glu2077Asp) c.6309G>C (p.Glu2103Asp) c.3364G>C n.311G>C c.5907G>C (p.Glu1969Asp) | |
15 | g.40651489G= | CA2171877477 | KNL1 | c.6231G= (p.Glu2077=) c.6309G= (p.Glu2103=) c.3364G= n.311G= c.5907G= (p.Glu1969=) | |
15 | g.40651489G>T | CA391773195 | KNL1 | c.6231G>T (p.Glu2077Asp) c.6309G>T (p.Glu2103Asp) c.3364G>T n.311G>T c.5907G>T (p.Glu1969Asp) | |
15 | g.40651490G>A | CA391773196 | KNL1 | c.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 |
15 | g.40651490G>C | CA391773197 | KNL1 | c.6232G>C (p.Val2078Leu) c.6310G>C (p.Val2104Leu) c.3365G>C n.312G>C c.5908G>C (p.Val1970Leu) | |
15 | g.40651490G= | CA2171877478 | KNL1 | c.6232G= (p.Val2078=) c.6310G= (p.Val2104=) c.3365G= n.312G= c.5908G= (p.Val1970=) | |
15 | g.40651490G>T | CA391773198 | KNL1 | c.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 |
15 | g.40651491T>A | CA391773199 | KNL1 | c.6233T>A (p.Val2078Glu) c.6311T>A (p.Val2104Glu) c.3366T>A n.313T>A c.5909T>A (p.Val1970Glu) | |
15 | g.40651491T>C | CA391773200 | KNL1 | c.6233T>C (p.Val2078Ala) c.6311T>C (p.Val2104Ala) c.3366T>C n.313T>C c.5909T>C (p.Val1970Ala) | gnomAD v4 COSMIC COSMIC |
15 | g.40651491T>G | CA391773201 | KNL1 | c.6233T>G (p.Val2078Gly) c.6311T>G (p.Val2104Gly) c.3366T>G n.313T>G c.5909T>G (p.Val1970Gly) | |
15 | g.40651492A>C | CA489772972 | KNL1 | c.6234A>C (p.Val2078=) c.6312A>C (p.Val2104=) c.3367A>C n.314A>C c.5910A>C (p.Val1970=) | |
15 | g.40651492A>G | CA489772970 | KNL1 | c.6234A>G (p.Val2078=) c.6312A>G (p.Val2104=) c.3367A>G n.314A>G c.5910A>G (p.Val1970=) | gnomAD v4 |
15 | g.40651492A>T | CA489772971 | KNL1 | c.6234A>T (p.Val2078=) c.6312A>T (p.Val2104=) c.3367A>T n.314A>T c.5910A>T (p.Val1970=) | gnomAD v4 |
15 | g.40651493C>A | CA391773202 | KNL1 | c.6235C>A (p.Gln2079Lys) c.6313C>A (p.Gln2105Lys) c.3368C>A n.315C>A c.5911C>A (p.Gln1971Lys) | |
15 | g.40651493C>G | CA391773203 | KNL1 | c.6235C>G (p.Gln2079Glu) c.6313C>G (p.Gln2105Glu) c.3368C>G n.315C>G c.5911C>G (p.Gln1971Glu) | gnomAD v4 |
15 | g.40651493C>T | CA391773204 | KNL1 | c.6235C>T (p.Gln2079Ter) c.6313C>T (p.Gln2105Ter) c.3368C>T n.315C>T c.5911C>T (p.Gln1971Ter) | |
15 | g.40651493_40651494delinsCA | CA2171877479 | KNL1 | c.6235_6236delinsCA (p.Gln2079=) c.6313_6314delinsCA (p.Gln2105=) c.3368_3369delinsCA n.315_316delinsCA c.5911_5912delinsCA (p.Gln1971=) | |
15 | g.40651494A>C | CA391773205 | KNL1 | c.6236A>C (p.Gln2079Pro) c.6314A>C (p.Gln2105Pro) c.3369A>C n.316A>C c.5912A>C (p.Gln1971Pro) | |
15 | g.40651494A>G | CA391773206 | KNL1 | c.6236A>G (p.Gln2079Arg) c.6314A>G (p.Gln2105Arg) c.3369A>G n.316A>G c.5912A>G (p.Gln1971Arg) | |
15 | g.40651494A>T | CA391773207 | KNL1 | c.6236A>T (p.Gln2079Leu) c.6314A>T (p.Gln2105Leu) c.3369A>T n.316A>T c.5912A>T (p.Gln1971Leu) | |
15 | g.40651498del | CA2171877480 | KNL1 | c.6240del (p.Glu2081SerfsTer7) c.6318del (p.Glu2107SerfsTer7) c.3373del n.320del c.5916del (p.Glu1973SerfsTer7) | dbSNP gnomAD v4 |
15 | g.40651495A>C | CA391773208 | KNL1 | c.6237A>C (p.Gln2079His) c.6315A>C (p.Gln2105His) c.3370A>C n.317A>C c.5913A>C (p.Gln1971His) | |
15 | g.40651495A>G | CA489772976 | KNL1 | c.6237A>G (p.Gln2079=) c.6315A>G (p.Gln2105=) c.3370A>G n.317A>G c.5913A>G (p.Gln1971=) | |
15 | g.40651495A>T | CA391773209 | KNL1 | c.6237A>T (p.Gln2079His) c.6315A>T (p.Gln2105His) c.3370A>T n.317A>T c.5913A>T (p.Gln1971His) | |
15 | g.40651496A>C | CA391773210 | KNL1 | c.6238A>C (p.Lys2080Gln) c.6316A>C (p.Lys2106Gln) c.3371A>C n.318A>C c.5914A>C (p.Lys1972Gln) | |
15 | g.40651496A>G | CA391773211 | KNL1 | c.6238A>G (p.Lys2080Glu) c.6316A>G (p.Lys2106Glu) c.3371A>G n.318A>G c.5914A>G (p.Lys1972Glu) | |
15 | g.40651496A>T | CA391773212 | KNL1 | c.6238A>T (p.Lys2080Ter) c.6316A>T (p.Lys2106Ter) c.3371A>T n.318A>T c.5914A>T (p.Lys1972Ter) | |
15 | g.40651497A>C | CA391773213 | KNL1 | c.6239A>C (p.Lys2080Thr) c.6317A>C (p.Lys2106Thr) c.3372A>C n.319A>C c.5915A>C (p.Lys1972Thr) | |
15 | g.40651497A>G | CA391773214 | KNL1 | c.6239A>G (p.Lys2080Arg) c.6317A>G (p.Lys2106Arg) c.3372A>G n.319A>G c.5915A>G (p.Lys1972Arg) | |
15 | g.40651497A>T | CA391773215 | KNL1 | c.6239A>T (p.Lys2080Ile) c.6317A>T (p.Lys2106Ile) c.3372A>T n.319A>T c.5915A>T (p.Lys1972Ile) | |
15 | g.40651498A= | CA2171877481 | KNL1 | c.6240A= (p.Lys2080=) c.6318A= (p.Lys2106=) c.3373A= n.320A= c.5916A= (p.Lys1972=) | |
15 | g.40651498A>C | CA391773216 | KNL1 | c.6240A>C (p.Lys2080Asn) c.6318A>C (p.Lys2106Asn) c.3373A>C n.320A>C c.5916A>C (p.Lys1972Asn) | gnomAD v4 |
15 | g.40651498A>G | CA489772980 | KNL1 | c.6240A>G (p.Lys2080=) c.6318A>G (p.Lys2106=) c.3373A>G n.320A>G c.5916A>G (p.Lys1972=) | dbSNP gnomAD v4 |
15 | g.40651498A>T | CA391773217 | KNL1 | c.6240A>T (p.Lys2080Asn) c.6318A>T (p.Lys2106Asn) c.3373A>T n.320A>T c.5916A>T (p.Lys1972Asn) | |
15 | g.40651499G>A | CA391773218 | KNL1 | c.6241G>A (p.Glu2081Lys) c.6319G>A (p.Glu2107Lys) c.3374G>A n.321G>A c.5917G>A (p.Glu1973Lys) | |
15 | g.40651499G>C | CA391773219 | KNL1 | c.6241G>C (p.Glu2081Gln) c.6319G>C (p.Glu2107Gln) c.3374G>C n.321G>C c.5917G>C (p.Glu1973Gln) | |
15 | g.40651499G>T | CA391773220 | KNL1 | c.6241G>T (p.Glu2081Ter) c.6319G>T (p.Glu2107Ter) c.3374G>T n.321G>T c.5917G>T (p.Glu1973Ter) | |
15 | g.40651500A>C | CA391773221 | KNL1 | c.6242A>C (p.Glu2081Ala) c.6320A>C (p.Glu2107Ala) c.3375A>C n.322A>C c.5918A>C (p.Glu1973Ala) | |
15 | g.40651500A>G | CA391773222 | KNL1 | c.6242A>G (p.Glu2081Gly) c.6320A>G (p.Glu2107Gly) c.3375A>G n.322A>G c.5918A>G (p.Glu1973Gly) | |
15 | g.40651500A>T | CA391773223 | KNL1 | c.6242A>T (p.Glu2081Val) c.6320A>T (p.Glu2107Val) c.3375A>T n.322A>T c.5918A>T (p.Glu1973Val) | |
15 | g.40651501G>A | CA7483659 | KNL1 | c.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 |
15 | g.40651501G>C | CA391773225 | KNL1 | c.6243G>C (p.Glu2081Asp) c.6321G>C (p.Glu2107Asp) c.3376G>C n.323G>C c.5919G>C (p.Glu1973Asp) | |
15 | g.40651501G= | CA2171877482 | KNL1 | c.6243G= (p.Glu2081=) c.6321G= (p.Glu2107=) c.3376G= n.323G= c.5919G= (p.Glu1973=) | |
15 | g.40651501G>T | CA391773224 | KNL1 | c.6243G>T (p.Glu2081Asp) c.6321G>T (p.Glu2107Asp) c.3376G>T n.323G>T c.5919G>T (p.Glu1973Asp) | |
15 | g.40651502C>A | CA391773226 | KNL1 | c.6244C>A (p.Gln2082Lys) c.6322C>A (p.Gln2108Lys) c.3377C>A n.324C>A c.5920C>A (p.Gln1974Lys) | dbSNP |
15 | g.40651502C= | CA2171877483 | KNL1 | c.6244C= (p.Gln2082=) c.6322C= (p.Gln2108=) c.3377C= n.324C= c.5920C= (p.Gln1974=) | |
15 | g.40651502C>G | CA391773227 | KNL1 | c.6244C>G (p.Gln2082Glu) c.6322C>G (p.Gln2108Glu) c.3377C>G n.324C>G c.5920C>G (p.Gln1974Glu) | |
15 | g.40651502C>T | CA391773228 | KNL1 | c.6244C>T (p.Gln2082Ter) c.6322C>T (p.Gln2108Ter) c.3377C>T n.324C>T c.5920C>T (p.Gln1974Ter) | gnomAD v4 COSMIC COSMIC |
15 | g.40651503A>C | CA391773229 | KNL1 | c.6245A>C (p.Gln2082Pro) c.6323A>C (p.Gln2108Pro) c.3378A>C n.325A>C c.5921A>C (p.Gln1974Pro) | |
15 | g.40651503A>G | CA391773230 | KNL1 | c.6245A>G (p.Gln2082Arg) c.6323A>G (p.Gln2108Arg) c.3378A>G n.325A>G c.5921A>G (p.Gln1974Arg) | |
15 | g.40651503A>T | CA391773231 | KNL1 | c.6245A>T (p.Gln2082Leu) c.6323A>T (p.Gln2108Leu) c.3378A>T n.325A>T c.5921A>T (p.Gln1974Leu) | |
15 | g.40651504G>A | CA489772985 | KNL1 | c.6246G>A (p.Gln2082=) c.6324G>A (p.Gln2108=) c.3379G>A n.326G>A c.5922G>A (p.Gln1974=) | |
15 | g.40651504G>C | CA391773232 | KNL1 | c.6246G>C (p.Gln2082His) c.6324G>C (p.Gln2108His) c.3379G>C n.326G>C c.5922G>C (p.Gln1974His) | |
15 | g.40651504G>T | CA391773233 | KNL1 | c.6246G>T (p.Gln2082His) c.6324G>T (p.Gln2108His) c.3379G>T n.326G>T c.5922G>T (p.Gln1974His) | |
15 | g.40651505A>C | CA391773234 | KNL1 | c.6247A>C (p.Thr2083Pro) c.6325A>C (p.Thr2109Pro) c.3380A>C n.327A>C c.5923A>C (p.Thr1975Pro) | |
15 | g.40651505A>G | CA391773235 | KNL1 | c.6247A>G (p.Thr2083Ala) c.6325A>G (p.Thr2109Ala) c.3380A>G n.327A>G c.5923A>G (p.Thr1975Ala) | |
15 | g.40651505A>T | CA391773236 | KNL1 | c.6247A>T (p.Thr2083Ser) c.6325A>T (p.Thr2109Ser) c.3380A>T n.327A>T c.5923A>T (p.Thr1975Ser) | |
15 | g.40651506C>A | CA7483660 | KNL1 | c.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 |
15 | g.40651506C= | CA2171877484 | KNL1 | c.6248C= (p.Thr2083=) c.6326C= (p.Thr2109=) c.3381C= n.328C= c.5924C= (p.Thr1975=) | |
15 | g.40651506C>G | CA391773237 | KNL1 | c.6248C>G (p.Thr2083Ser) c.6326C>G (p.Thr2109Ser) c.3381C>G n.328C>G c.5924C>G (p.Thr1975Ser) | |
15 | g.40651506C>T | CA7483661 | KNL1 | c.6248C>T (p.Thr2083Ile) c.6326C>T (p.Thr2109Ile) c.3381C>T n.328C>T c.5924C>T (p.Thr1975Ile) | dbSNP ExAC gnomAD v2 |
15 | g.40651507C>A | CA489772986 | KNL1 | c.6249C>A (p.Thr2083=) c.6327C>A (p.Thr2109=) c.3382C>A n.329C>A c.5925C>A (p.Thr1975=) | |
15 | g.40651507C>G | CA489772987 | KNL1 | c.6249C>G (p.Thr2083=) c.6327C>G (p.Thr2109=) c.3382C>G n.329C>G c.5925C>G (p.Thr1975=) | |
15 | g.40651507C>T | CA489772989 | KNL1 | c.6249C>T (p.Thr2083=) c.6327C>T (p.Thr2109=) c.3382C>T n.329C>T c.5925C>T (p.Thr1975=) | |
15 | g.40651508C>A | CA391773239 | KNL1 | c.6250C>A (p.Leu2084Ile) c.6328C>A (p.Leu2110Ile) c.3383C>A n.330C>A c.5926C>A (p.Leu1976Ile) | gnomAD v4 |
15 | g.40651508C= | CA2171877485 | KNL1 | c.6250C= (p.Leu2084=) c.6328C= (p.Leu2110=) c.3383C= n.330C= c.5926C= (p.Leu1976=) | |
15 | g.40651508C>G | CA391773240 | KNL1 | c.6250C>G (p.Leu2084Val) c.6328C>G (p.Leu2110Val) c.3383C>G n.330C>G c.5926C>G (p.Leu1976Val) | dbSNP |
15 | g.40651508C>T | CA391773238 | KNL1 | c.6250C>T (p.Leu2084Phe) c.6328C>T (p.Leu2110Phe) c.3383C>T n.330C>T c.5926C>T (p.Leu1976Phe) | |
15 | g.40651509T>A | CA391773241 | KNL1 | c.6251T>A (p.Leu2084His) c.6329T>A (p.Leu2110His) c.3384T>A n.331T>A c.5927T>A (p.Leu1976His) | |
15 | g.40651509T>C | CA391773242 | KNL1 | c.6251T>C (p.Leu2084Pro) c.6329T>C (p.Leu2110Pro) c.3384T>C n.331T>C c.5927T>C (p.Leu1976Pro) | |
15 | g.40651509T>G | CA391773243 | KNL1 | c.6251T>G (p.Leu2084Arg) c.6329T>G (p.Leu2110Arg) c.3384T>G n.331T>G c.5927T>G (p.Leu1976Arg) | |
15 | g.40651510T>A | CA489772990 | KNL1 | c.6252T>A (p.Leu2084=) c.6330T>A (p.Leu2110=) c.3385T>A n.332T>A c.5928T>A (p.Leu1976=) | |
15 | g.40651510T>C | CA489772991 | KNL1 | c.6252T>C (p.Leu2084=) c.6330T>C (p.Leu2110=) c.3385T>C n.332T>C c.5928T>C (p.Leu1976=) | gnomAD v4 |
15 | g.40651510T>G | CA489772992 | KNL1 | c.6252T>G (p.Leu2084=) c.6330T>G (p.Leu2110=) c.3385T>G n.332T>G c.5928T>G (p.Leu1976=) | |
15 | g.40651511G>A | CA7483662 | KNL1 | c.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 |
15 | g.40651511G>C | CA391773244 | KNL1 | c.6253G>C (p.Ala2085Pro) c.6331G>C (p.Ala2111Pro) c.3386G>C n.333G>C c.5929G>C (p.Ala1977Pro) | |
15 | g.40651511G= | CA2171877486 | KNL1 | c.6253G= (p.Ala2085=) c.6331G= (p.Ala2111=) c.3386G= n.333G= c.5929G= (p.Ala1977=) | |
15 | g.40651511G>T | CA391773245 | KNL1 | c.6253G>T (p.Ala2085Ser) c.6331G>T (p.Ala2111Ser) c.3386G>T n.333G>T c.5929G>T (p.Ala1977Ser) | |
15 | g.40651512C>A | CA391773246 | KNL1 | c.6254C>A (p.Ala2085Asp) c.6332C>A (p.Ala2111Asp) c.3387C>A n.334C>A c.5930C>A (p.Ala1977Asp) | |
15 | g.40651512C= | CA2171877487 | KNL1 | c.6254C= (p.Ala2085=) c.6332C= (p.Ala2111=) c.3387C= n.334C= c.5930C= (p.Ala1977=) | |
15 | g.40651512C>G | CA391773247 | KNL1 | c.6254C>G (p.Ala2085Gly) c.6332C>G (p.Ala2111Gly) c.3387C>G n.334C>G c.5930C>G (p.Ala1977Gly) | gnomAD v4 |
15 | g.40651512C>T | CA391773248 | KNL1 | c.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 |
15 | g.40651513T>A | CA489772994 | KNL1 | c.6255T>A (p.Ala2085=) c.6333T>A (p.Ala2111=) c.3388T>A n.335T>A c.5931T>A (p.Ala1977=) | |
15 | g.40651513T>C | CA489772995 | KNL1 | c.6255T>C (p.Ala2085=) c.6333T>C (p.Ala2111=) c.3388T>C n.335T>C c.5931T>C (p.Ala1977=) | |
15 | g.40651513T>G | CA489772997 | KNL1 | c.6255T>G (p.Ala2085=) c.6333T>G (p.Ala2111=) c.3388T>G n.335T>G c.5931T>G (p.Ala1977=) | |
15 | g.40651514C>A | CA391773249 | KNL1 | c.6256C>A (p.Gln2086Lys) c.6334C>A (p.Gln2112Lys) c.3389C>A n.336C>A c.5932C>A (p.Gln1978Lys) | gnomAD v4 |
15 | g.40651514C= | CA2171877488 | KNL1 | c.6256C= (p.Gln2086=) c.6334C= (p.Gln2112=) c.3389C= n.336C= c.5932C= (p.Gln1978=) | |
15 | g.40651514C>G | CA7483663 | KNL1 | c.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 |
15 | g.40651514C>T | CA391773250 | KNL1 | c.6256C>T (p.Gln2086Ter) c.6334C>T (p.Gln2112Ter) c.3389C>T n.336C>T c.5932C>T (p.Gln1978Ter) | |
15 | g.40651515A>C | CA391773252 | KNL1 | c.6257A>C (p.Gln2086Pro) c.6335A>C (p.Gln2112Pro) c.3390A>C n.337A>C c.5933A>C (p.Gln1978Pro) | |
15 | g.40651515A>G | CA391773253 | KNL1 | c.6257A>G (p.Gln2086Arg) c.6335A>G (p.Gln2112Arg) c.3390A>G n.337A>G c.5933A>G (p.Gln1978Arg) | |
15 | g.40651515A>T | CA391773251 | KNL1 | c.6257A>T (p.Gln2086Leu) c.6335A>T (p.Gln2112Leu) c.3390A>T n.337A>T c.5933A>T (p.Gln1978Leu) | |
15 | g.40651516A= | CA2171877489 | KNL1 | c.6258A= (p.Gln2086=) c.6336A= (p.Gln2112=) c.3391A= n.338A= c.5934A= (p.Gln1978=) | |
15 | g.40651516A>C | CA391773254 | KNL1 | c.6258A>C (p.Gln2086His) c.6336A>C (p.Gln2112His) c.3391A>C n.338A>C c.5934A>C (p.Gln1978His) | COSMIC COSMIC |
15 | g.40651516A>G | CA7483664 | KNL1 | c.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 |
15 | g.40651516A>T | CA391773255 | KNL1 | c.6258A>T (p.Gln2086His) c.6336A>T (p.Gln2112His) c.3391A>T n.338A>T c.5934A>T (p.Gln1978His) | |
15 | g.40651517A= | CA2171877490 | KNL1 | c.6259A= (p.Ile2087=) c.6337A= (p.Ile2113=) c.3392A= n.339A= c.5935A= (p.Ile1979=) | |
15 | g.40651517A>C | CA391773256 | KNL1 | c.6259A>C (p.Ile2087Leu) c.6337A>C (p.Ile2113Leu) c.3392A>C n.339A>C c.5935A>C (p.Ile1979Leu) | |
15 | g.40651517A>G | CA391773257 | KNL1 | c.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 |
15 | g.40651517A>T | CA391773258 | KNL1 | c.6259A>T (p.Ile2087Leu) c.6337A>T (p.Ile2113Leu) c.3392A>T n.339A>T c.5935A>T (p.Ile1979Leu) | |
15 | g.40651518T>A | CA391773259 | KNL1 | c.6260T>A (p.Ile2087Lys) c.6338T>A (p.Ile2113Lys) c.3393T>A n.340T>A c.5936T>A (p.Ile1979Lys) | |
15 | g.40651518T>C | CA391773261 | KNL1 | c.6260T>C (p.Ile2087Thr) c.6338T>C (p.Ile2113Thr) c.3393T>C n.340T>C c.5936T>C (p.Ile1979Thr) | gnomAD v4 COSMIC COSMIC |
15 | g.40651518T>G | CA391773260 | KNL1 | c.6260T>G (p.Ile2087Arg) c.6338T>G (p.Ile2113Arg) c.3393T>G n.340T>G c.5936T>G (p.Ile1979Arg) | |
15 | g.40651519A>C | CA489773001 | KNL1 | c.6261A>C (p.Ile2087=) c.6339A>C (p.Ile2113=) c.3394A>C n.341A>C c.5937A>C (p.Ile1979=) | |
15 | g.40651519A>G | CA391773262 | KNL1 | c.6261A>G (p.Ile2087Met) c.6339A>G (p.Ile2113Met) c.3394A>G n.341A>G c.5937A>G (p.Ile1979Met) | |
15 | g.40651519A>T | CA489773002 | KNL1 | c.6261A>T (p.Ile2087=) c.6339A>T (p.Ile2113=) c.3394A>T n.341A>T c.5937A>T (p.Ile1979=) | |
15 | g.40651520G>A | CA391773263 | KNL1 | c.6262G>A (p.Asp2088Asn) c.6340G>A (p.Asp2114Asn) c.3395G>A n.342G>A c.5938G>A (p.Asp1980Asn) | gnomAD v4 |
15 | g.40651520G>C | CA391773264 | KNL1 | c.6262G>C (p.Asp2088His) c.6340G>C (p.Asp2114His) c.3395G>C n.342G>C c.5938G>C (p.Asp1980His) | COSMIC COSMIC |
15 | g.40651520G>T | CA391773265 | KNL1 | c.6262G>T (p.Asp2088Tyr) c.6340G>T (p.Asp2114Tyr) c.3395G>T n.342G>T c.5938G>T (p.Asp1980Tyr) | COSMIC COSMIC |
15 | g.40651521A>C | CA391773266 | KNL1 | c.6263A>C (p.Asp2088Ala) c.6341A>C (p.Asp2114Ala) c.3396A>C n.343A>C c.5939A>C (p.Asp1980Ala) | |
15 | g.40651521A>G | CA391773268 | KNL1 | c.6263A>G (p.Asp2088Gly) c.6341A>G (p.Asp2114Gly) c.3396A>G n.343A>G c.5939A>G (p.Asp1980Gly) | gnomAD v4 |
15 | g.40651521A>T | CA391773267 | KNL1 | c.6263A>T (p.Asp2088Val) c.6341A>T (p.Asp2114Val) c.3396A>T n.343A>T c.5939A>T (p.Asp1980Val) | |
15 | g.40651522C>A | CA391773269 | KNL1 | c.6264C>A (p.Asp2088Glu) c.6342C>A (p.Asp2114Glu) c.3397C>A n.344C>A c.5940C>A (p.Asp1980Glu) | |
15 | g.40651522C>G | CA391773270 | KNL1 | c.6264C>G (p.Asp2088Glu) c.6342C>G (p.Asp2114Glu) c.3397C>G n.344C>G c.5940C>G (p.Asp1980Glu) | |
15 | g.40651522C>T | CA489773004 | KNL1 | c.6264C>T (p.Asp2088=) c.6342C>T (p.Asp2114=) c.3397C>T n.344C>T c.5940C>T (p.Asp1980=) | |
15 | g.40651523T>A | CA391773271 | KNL1 | c.6265T>A (p.Phe2089Ile) c.6343T>A (p.Phe2115Ile) c.3398T>A n.345T>A c.5941T>A (p.Phe1981Ile) | |
15 | g.40651523T>C | CA391773272 | KNL1 | c.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 |
15 | g.40651523T>G | CA391773273 | KNL1 | c.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 |
15 | g.40651523T= | CA2171877491 | KNL1 | c.6265T= (p.Phe2089=) c.6343T= (p.Phe2115=) c.3398T= n.345T= c.5941T= (p.Phe1981=) | |
15 | g.40651524T>A | CA391773274 | KNL1 | c.6266T>A (p.Phe2089Tyr) c.6344T>A (p.Phe2115Tyr) c.3399T>A n.346T>A c.5942T>A (p.Phe1981Tyr) | |
15 | g.40651524T>C | CA391773275 | KNL1 | c.6266T>C (p.Phe2089Ser) c.6344T>C (p.Phe2115Ser) c.3399T>C n.346T>C c.5942T>C (p.Phe1981Ser) | |
15 | g.40651524T>G | CA391773276 | KNL1 | c.6266T>G (p.Phe2089Cys) c.6344T>G (p.Phe2115Cys) c.3399T>G n.346T>G c.5942T>G (p.Phe1981Cys) | |
15 | g.40651525T>A | CA391773277 | KNL1 | c.6267T>A (p.Phe2089Leu) c.6345T>A (p.Phe2115Leu) c.3400T>A n.347T>A c.5943T>A (p.Phe1981Leu) | gnomAD v4 |
15 | g.40651525T>C | CA489773005 | KNL1 | c.6267T>C (p.Phe2089=) c.6345T>C (p.Phe2115=) c.3400T>C n.347T>C c.5943T>C (p.Phe1981=) | gnomAD v4 |
15 | g.40651525T>G | CA391773278 | KNL1 | c.6267T>G (p.Phe2089Leu) c.6345T>G (p.Phe2115Leu) c.3400T>G n.347T>G c.5943T>G (p.Phe1981Leu) | |
15 | g.40651526A= | CA2171877492 | KNL1 | c.6268A= (p.Met2090=) c.6346A= (p.Met2116=) c.3401A= n.348A= c.5944A= (p.Met1982=) | |
15 | g.40651526A>C | CA391773279 | KNL1 | c.6268A>C (p.Met2090Leu) c.6346A>C (p.Met2116Leu) c.3401A>C n.348A>C c.5944A>C (p.Met1982Leu) | |
15 | g.40651526A>G | CA391773280 | KNL1 | c.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 |
15 | g.40651526A>T | CA391773281 | KNL1 | c.6268A>T (p.Met2090Leu) c.6346A>T (p.Met2116Leu) c.3401A>T n.348A>T c.5944A>T (p.Met1982Leu) | |
15 | g.40651527T>A | CA391773284 | KNL1 | c.6269T>A (p.Met2090Lys) c.6347T>A (p.Met2116Lys) c.3402T>A n.349T>A c.5945T>A (p.Met1982Lys) | |
15 | g.40651527T>C | CA391773282 | KNL1 | c.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 |
15 | g.40651527T>G | CA391773283 | KNL1 | c.6269T>G (p.Met2090Arg) c.6347T>G (p.Met2116Arg) c.3402T>G n.349T>G c.5945T>G (p.Met1982Arg) | |
15 | g.40651527T= | CA2171877493 | KNL1 | c.6269T= (p.Met2090=) c.6347T= (p.Met2116=) c.3402T= n.349T= c.5945T= (p.Met1982=) | |
15 | g.40651528G>A | CA391773285 | KNL1 | c.6270G>A (p.Met2090Ile) c.6348G>A (p.Met2116Ile) c.3403G>A n.350G>A c.5946G>A (p.Met1982Ile) | |
15 | g.40651528G>C | CA391773286 | KNL1 | c.6270G>C (p.Met2090Ile) c.6348G>C (p.Met2116Ile) c.3403G>C n.350G>C c.5946G>C (p.Met1982Ile) | gnomAD v4 |
15 | g.40651528G>T | CA391773287 | KNL1 | c.6270G>T (p.Met2090Ile) c.6348G>T (p.Met2116Ile) c.3403G>T n.350G>T c.5946G>T (p.Met1982Ile) | |
15 | g.40651529C>A | CA391773420 | KNL1 | c.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 |
15 | g.40651529C= | CA2171877494 | KNL1 | c.6271C= (p.Gln2091=) c.6349C= (p.Gln2117=) c.3404C= n.351C= c.5947C= (p.Gln1983=) | |
15 | g.40651529C>G | CA391773421 | KNL1 | c.6271C>G (p.Gln2091Glu) c.6349C>G (p.Gln2117Glu) c.3404C>G n.351C>G c.5947C>G (p.Gln1983Glu) | |
15 | g.40651529C>T | CA391773423 | KNL1 | c.6271C>T (p.Gln2091Ter) c.6349C>T (p.Gln2117Ter) c.3404C>T n.351C>T c.5947C>T (p.Gln1983Ter) | gnomAD v4 |
15 | g.40651530A>C | CA391773425 | KNL1 | c.6272A>C (p.Gln2091Pro) c.6350A>C (p.Gln2117Pro) c.3405A>C n.352A>C c.5948A>C (p.Gln1983Pro) | |
15 | g.40651530A>G | CA391773426 | KNL1 | c.6272A>G (p.Gln2091Arg) c.6350A>G (p.Gln2117Arg) c.3405A>G n.352A>G c.5948A>G (p.Gln1983Arg) | |
15 | g.40651530A>T | CA391773428 | KNL1 | c.6272A>T (p.Gln2091Leu) c.6350A>T (p.Gln2117Leu) c.3405A>T n.352A>T c.5948A>T (p.Gln1983Leu) | |
15 | g.40651534dup | CA645577852 | KNL1 | c.6276dup (p.Gln2093ThrfsTer4) c.6354dup (p.Gln2119ThrfsTer4) c.3409dup n.356dup c.5952dup (p.Gln1985ThrfsTer4) | COSMIC COSMIC |
15 | g.40651534del | CA2627840403 | KNL1 | c.6276del (p.Lys2092AsnfsTer13) c.6354del (p.Lys2118AsnfsTer13) c.3409del n.356del c.5952del (p.Lys1984AsnfsTer13) | gnomAD v4 |
15 | g.40651531A= | CA2171877495 | KNL1 | c.6273A= (p.Gln2091=) c.6351A= (p.Gln2117=) c.3406A= n.353A= c.5949A= (p.Gln1983=) | |
15 | g.40651531A>C | CA391773430 | KNL1 | c.6273A>C (p.Gln2091His) c.6351A>C (p.Gln2117His) c.3406A>C n.353A>C c.5949A>C (p.Gln1983His) | |
15 | g.40651531A>G | CA489773010 | KNL1 | c.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 |
15 | g.40651531A>T | CA391773431 | KNL1 | c.6273A>T (p.Gln2091His) c.6351A>T (p.Gln2117His) c.3406A>T n.353A>T c.5949A>T (p.Gln1983His) | |
15 | g.40651532A>C | CA391773435 | KNL1 | c.6274A>C (p.Lys2092Gln) c.6352A>C (p.Lys2118Gln) c.3407A>C n.354A>C c.5950A>C (p.Lys1984Gln) | |
15 | g.40651532A>G | CA391773437 | KNL1 | c.6274A>G (p.Lys2092Glu) c.6352A>G (p.Lys2118Glu) c.3407A>G n.354A>G c.5950A>G (p.Lys1984Glu) | |
15 | g.40651532A>T | CA391773433 | KNL1 | c.6274A>T (p.Lys2092Ter) c.6352A>T (p.Lys2118Ter) c.3407A>T n.354A>T c.5950A>T (p.Lys1984Ter) | |
15 | g.40651533A>C | CA391773439 | KNL1 | c.6275A>C (p.Lys2092Thr) c.6353A>C (p.Lys2118Thr) c.3408A>C n.355A>C c.5951A>C (p.Lys1984Thr) | |
15 | g.40651533A>G | CA391773441 | KNL1 | c.6275A>G (p.Lys2092Arg) c.6353A>G (p.Lys2118Arg) c.3408A>G n.355A>G c.5951A>G (p.Lys1984Arg) | |
15 | g.40651533A>T | CA391773443 | KNL1 | c.6275A>T (p.Lys2092Ile) c.6353A>T (p.Lys2118Ile) c.3408A>T n.355A>T c.5951A>T (p.Lys1984Ile) | |
15 | g.40651534A>C | CA391773445 | KNL1 | c.6276A>C (p.Lys2092Asn) c.6354A>C (p.Lys2118Asn) c.3409A>C n.356A>C c.5952A>C (p.Lys1984Asn) | |
15 | g.40651534A>G | CA489773011 | KNL1 | c.6276A>G (p.Lys2092=) c.6354A>G (p.Lys2118=) c.3409A>G n.356A>G c.5952A>G (p.Lys1984=) | gnomAD v4 |
15 | g.40651534A>T | CA391773447 | KNL1 | c.6276A>T (p.Lys2092Asn) c.6354A>T (p.Lys2118Asn) c.3409A>T n.356A>T c.5952A>T (p.Lys1984Asn) | |
15 | g.40651535C>A | CA391773450 | KNL1 | c.6277C>A (p.Gln2093Lys) c.6355C>A (p.Gln2119Lys) c.3410C>A n.357C>A c.5953C>A (p.Gln1985Lys) | |
15 | g.40651535C>G | CA391773452 | KNL1 | c.6277C>G (p.Gln2093Glu) c.6355C>G (p.Gln2119Glu) c.3410C>G n.357C>G c.5953C>G (p.Gln1985Glu) | |
15 | g.40651535C>T | CA391773454 | KNL1 | c.6277C>T (p.Gln2093Ter) c.6355C>T (p.Gln2119Ter) c.3410C>T n.357C>T c.5953C>T (p.Gln1985Ter) | |
15 | g.40651536A>C | CA391773455 | KNL1 | c.6278A>C (p.Gln2093Pro) c.6356A>C (p.Gln2119Pro) c.3411A>C n.358A>C c.5954A>C (p.Gln1985Pro) | |
15 | g.40651536A>G | CA391773457 | KNL1 | c.6278A>G (p.Gln2093Arg) c.6356A>G (p.Gln2119Arg) c.3411A>G n.358A>G c.5954A>G (p.Gln1985Arg) | |
15 | g.40651536A>T | CA391773459 | KNL1 | c.6278A>T (p.Gln2093Leu) c.6356A>T (p.Gln2119Leu) c.3411A>T n.358A>T c.5954A>T (p.Gln1985Leu) | |
15 | g.40651537A>C | CA391773460 | KNL1 | c.6279A>C (p.Gln2093His) c.6357A>C (p.Gln2119His) c.3412A>C n.359A>C c.5955A>C (p.Gln1985His) | |
15 | g.40651537A>G | CA489773012 | KNL1 | c.6279A>G (p.Gln2093=) c.6357A>G (p.Gln2119=) c.3412A>G n.359A>G c.5955A>G (p.Gln1985=) | |
15 | g.40651537A>T | CA391773461 | KNL1 | c.6279A>T (p.Gln2093His) c.6357A>T (p.Gln2119His) c.3412A>T n.359A>T c.5955A>T (p.Gln1985His) | |
15 | g.40651538A>C | CA489773013 | KNL1 | c.6280A>C (p.Arg2094=) c.6358A>C (p.Arg2120=) c.3413A>C n.360A>C c.5956A>C (p.Arg1986=) | |
15 | g.40651538A>G | CA391773466 | KNL1 | c.6280A>G (p.Arg2094Gly) c.6358A>G (p.Arg2120Gly) c.3413A>G n.360A>G c.5956A>G (p.Arg1986Gly) | |
15 | g.40651538A>T | CA391773464 | KNL1 | c.6280A>T (p.Arg2094Ter) c.6358A>T (p.Arg2120Ter) c.3413A>T n.360A>T c.5956A>T (p.Arg1986Ter) | |
15 | g.40651539G>A | CA391773471 | KNL1 | c.6281G>A (p.Arg2094Lys) c.6359G>A (p.Arg2120Lys) c.3414G>A n.361G>A c.5957G>A (p.Arg1986Lys) | |
15 | g.40651539G>C | CA391773473 | KNL1 | c.6281G>C (p.Arg2094Thr) c.6359G>C (p.Arg2120Thr) c.3414G>C n.361G>C c.5957G>C (p.Arg1986Thr) | |
15 | g.40651539G>T | CA391773475 | KNL1 | c.6281G>T (p.Arg2094Ile) c.6359G>T (p.Arg2120Ile) c.3414G>T n.361G>T c.5957G>T (p.Arg1986Ile) | gnomAD v4 |
15 | g.40651540A>C | CA391773477 | KNL1 | c.6282A>C (p.Arg2094Ser) c.6360A>C (p.Arg2120Ser) c.3415A>C n.362A>C c.5958A>C (p.Arg1986Ser) | |
15 | g.40651540A>G | CA489773014 | KNL1 | c.6282A>G (p.Arg2094=) c.6360A>G (p.Arg2120=) c.3415A>G n.362A>G c.5958A>G (p.Arg1986=) | |
15 | g.40651540A>T | CA391773479 | KNL1 | c.6282A>T (p.Arg2094Ser) c.6360A>T (p.Arg2120Ser) c.3415A>T n.362A>T c.5958A>T (p.Arg1986Ser) | |
15 | g.40651541A= | CA2171877496 | KNL1 | c.6283A= (p.Asn2095=) c.6361A= (p.Asn2121=) c.3416A= n.363A= c.5959A= (p.Asn1987=) | |
15 | g.40651541A>C | CA391773482 | KNL1 | c.6283A>C (p.Asn2095His) c.6361A>C (p.Asn2121His) c.3416A>C n.363A>C c.5959A>C (p.Asn1987His) | |
15 | g.40651541A>G | CA391773484 | KNL1 | c.6283A>G (p.Asn2095Asp) c.6361A>G (p.Asn2121Asp) c.3416A>G n.363A>G c.5959A>G (p.Asn1987Asp) | dbSNP |
15 | g.40651541A>T | CA391773485 | KNL1 | c.6283A>T (p.Asn2095Tyr) c.6361A>T (p.Asn2121Tyr) c.3416A>T n.363A>T c.5959A>T (p.Asn1987Tyr) | |
15 | g.40651542A= | CA2171877497 | KNL1 | c.6284A= (p.Asn2095=) c.6362A= (p.Asn2121=) c.3417A= n.364A= c.5960A= (p.Asn1987=) | |
15 | g.40651542A>C | CA391773487 | KNL1 | c.6284A>C (p.Asn2095Thr) c.6362A>C (p.Asn2121Thr) c.3417A>C n.364A>C c.5960A>C (p.Asn1987Thr) | |
15 | g.40651542A>G | CA7483665 | KNL1 | c.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 |
15 | g.40651542A>T | CA391773490 | KNL1 | c.6284A>T (p.Asn2095Ile) c.6362A>T (p.Asn2121Ile) c.3417A>T n.364A>T c.5960A>T (p.Asn1987Ile) | |
15 | g.40651543T>A | CA391773491 | KNL1 | c.6285T>A (p.Asn2095Lys) c.6363T>A (p.Asn2121Lys) c.3418T>A n.365T>A c.5961T>A (p.Asn1987Lys) | |
15 | g.40651543T>C | CA7483666 | KNL1 | c.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 |
15 | g.40651543T>G | CA391773493 | KNL1 | c.6285T>G (p.Asn2095Lys) c.6363T>G (p.Asn2121Lys) c.3418T>G n.365T>G c.5961T>G (p.Asn1987Lys) | |
15 | g.40651543T= | CA2171877498 | KNL1 | c.6285T= (p.Asn2095=) c.6363T= (p.Asn2121=) c.3418T= n.365T= c.5961T= (p.Asn1987=) | |
15 | g.40651544A= | CA2171877499 | KNL1 | c.6286A= (p.Arg2096=) c.6364A= (p.Arg2122=) c.3419A= n.366A= c.5962A= (p.Arg1988=) | |
15 | g.40651544A>C | CA489773015 | KNL1 | c.6286A>C (p.Arg2096=) c.6364A>C (p.Arg2122=) c.3419A>C n.366A>C c.5962A>C (p.Arg1988=) | |
15 | g.40651544A>G | CA7483667 | KNL1 | c.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 |
15 | g.40651544A>T | CA391773496 | KNL1 | c.6286A>T (p.Arg2096Ter) c.6364A>T (p.Arg2122Ter) c.3419A>T n.366A>T c.5962A>T (p.Arg1988Ter) | |
15 | g.40651545G>A | CA391773499 | KNL1 | c.6287G>A (p.Arg2096Lys) c.6365G>A (p.Arg2122Lys) c.3420G>A n.367G>A c.5963G>A (p.Arg1988Lys) | |
15 | g.40651545G>C | CA391773502 | KNL1 | c.6287G>C (p.Arg2096Thr) c.6365G>C (p.Arg2122Thr) c.3420G>C n.367G>C c.5963G>C (p.Arg1988Thr) | |
15 | g.40651545G>T | CA391773501 | KNL1 | c.6287G>T (p.Arg2096Ile) c.6365G>T (p.Arg2122Ile) c.3420G>T n.367G>T c.5963G>T (p.Arg1988Ile) | COSMIC COSMIC |
15 | g.40651546A>C | CA391773504 | KNL1 | c.6288A>C (p.Arg2096Ser) c.6366A>C (p.Arg2122Ser) c.3421A>C n.368A>C c.5964A>C (p.Arg1988Ser) | |
15 | g.40651546A>G | CA489773016 | KNL1 | c.6288A>G (p.Arg2096=) c.6366A>G (p.Arg2122=) c.3421A>G n.368A>G c.5964A>G (p.Arg1988=) | |
15 | g.40651546A>T | CA391773506 | KNL1 | c.6288A>T (p.Arg2096Ser) c.6366A>T (p.Arg2122Ser) c.3421A>T n.368A>T c.5964A>T (p.Arg1988Ser) | |
15 | g.40651547A= | CA2171877500 | KNL1 | c.6289A= (p.Thr2097=) c.6367A= (p.Thr2123=) c.3422A= n.369A= c.5965A= (p.Thr1989=) | |
15 | g.40651547A>C | CA391773508 | KNL1 | c.6289A>C (p.Thr2097Pro) c.6367A>C (p.Thr2123Pro) c.3422A>C n.369A>C c.5965A>C (p.Thr1989Pro) | |
15 | g.40651547A>G | CA391773512 | KNL1 | c.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 |
15 | g.40651547A>T | CA391773510 | KNL1 | c.6289A>T (p.Thr2097Ser) c.6367A>T (p.Thr2123Ser) c.3422A>T n.369A>T c.5965A>T (p.Thr1989Ser) | |
15 | g.40651548C>A | CA268840180 | KNL1 | c.6290C>A (p.Thr2097Asn) c.6368C>A (p.Thr2123Asn) c.3423C>A n.370C>A c.5966C>A (p.Thr1989Asn) | dbSNP |
15 | g.40651548C= | CA2171877501 | KNL1 | c.6290C= (p.Thr2097=) c.6368C= (p.Thr2123=) c.3423C= n.370C= c.5966C= (p.Thr1989=) | |
15 | g.40651548C>G | CA391773514 | KNL1 | c.6290C>G (p.Thr2097Ser) c.6368C>G (p.Thr2123Ser) c.3423C>G n.370C>G c.5966C>G (p.Thr1989Ser) | |
15 | g.40651548C>T | CA391773515 | KNL1 | c.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 |
15 | g.40651549T>A | CA489773017 | KNL1 | c.6291T>A (p.Thr2097=) c.6369T>A (p.Thr2123=) c.3424T>A n.371T>A c.5967T>A (p.Thr1989=) | |
15 | g.40651549T>C | CA489773018 | KNL1 | c.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 |
15 | g.40651549T>G | CA489773019 | KNL1 | c.6291T>G (p.Thr2097=) c.6369T>G (p.Thr2123=) c.3424T>G n.371T>G c.5967T>G (p.Thr1989=) | |
15 | g.40651549T= | CA2171877502 | KNL1 | c.6291T= (p.Thr2097=) c.6369T= (p.Thr2123=) c.3424T= n.371T= c.5967T= (p.Thr1989=) | |
15 | g.40651550G>A | CA391773517 | KNL1 | c.6292G>A (p.Glu2098Lys) c.6370G>A (p.Glu2124Lys) c.3425G>A n.372G>A c.5968G>A (p.Glu1990Lys) | COSMIC COSMIC |
15 | g.40651550G>C | CA391773519 | KNL1 | c.6292G>C (p.Glu2098Gln) c.6370G>C (p.Glu2124Gln) c.3425G>C n.372G>C c.5968G>C (p.Glu1990Gln) | |
15 | g.40651550G>T | CA391773521 | KNL1 | c.6292G>T (p.Glu2098Ter) c.6370G>T (p.Glu2124Ter) c.3425G>T n.372G>T c.5968G>T (p.Glu1990Ter) | |
15 | g.40651551A>C | CA391773523 | KNL1 | c.6293A>C (p.Glu2098Ala) c.6371A>C (p.Glu2124Ala) c.3426A>C n.373A>C c.5969A>C (p.Glu1990Ala) | |
15 | g.40651551A>G | CA391773524 | KNL1 | c.6293A>G (p.Glu2098Gly) c.6371A>G (p.Glu2124Gly) c.3426A>G n.373A>G c.5969A>G (p.Glu1990Gly) | |
15 | g.40651551A>T | CA391773526 | KNL1 | c.6293A>T (p.Glu2098Val) c.6371A>T (p.Glu2124Val) c.3426A>T n.373A>T c.5969A>T (p.Glu1990Val) | |
15 | g.40651552A>C | CA391773528 | KNL1 | c.6294A>C (p.Glu2098Asp) c.6372A>C (p.Glu2124Asp) c.3427A>C n.374A>C c.5970A>C (p.Glu1990Asp) | |
15 | g.40651552A>G | CA489773020 | KNL1 | c.6294A>G (p.Glu2098=) c.6372A>G (p.Glu2124=) c.3427A>G n.374A>G c.5970A>G (p.Glu1990=) | gnomAD v4 |
15 | g.40651552A>T | CA391773530 | KNL1 | c.6294A>T (p.Glu2098Asp) c.6372A>T (p.Glu2124Asp) c.3427A>T n.374A>T c.5970A>T (p.Glu1990Asp) | |
15 | g.40651553G>A | CA391773536 | KNL1 | c.6295G>A (p.Glu2099Lys) c.6373G>A (p.Glu2125Lys) c.3428G>A n.375G>A c.5971G>A (p.Glu1991Lys) | |
15 | g.40651553G>C | CA391773534 | KNL1 | c.6295G>C (p.Glu2099Gln) c.6373G>C (p.Glu2125Gln) c.3428G>C n.375G>C c.5971G>C (p.Glu1991Gln) | |
15 | g.40651553G>T | CA391773532 | KNL1 | c.6295G>T (p.Glu2099Ter) c.6373G>T (p.Glu2125Ter) c.3428G>T n.375G>T c.5971G>T (p.Glu1991Ter) | |
15 | g.40651554A>C | CA391773538 | KNL1 | c.6296A>C (p.Glu2099Ala) c.6374A>C (p.Glu2125Ala) c.3429A>C n.376A>C c.5972A>C (p.Glu1991Ala) | |
15 | g.40651554A>G | CA391773540 | KNL1 | c.6296A>G (p.Glu2099Gly) c.6374A>G (p.Glu2125Gly) c.3429A>G n.376A>G c.5972A>G (p.Glu1991Gly) | gnomAD v4 |
15 | g.40651554A>T | CA391773542 | KNL1 | c.6296A>T (p.Glu2099Val) c.6374A>T (p.Glu2125Val) c.3429A>T n.376A>T c.5972A>T (p.Glu1991Val) | |
15 | g.40651555G>A | CA7483669 | KNL1 | c.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 |
15 | g.40651555G>C | CA7483668 | KNL1 | c.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 |
15 | g.40651555G= | CA2171877503 | KNL1 | c.6297G= (p.Glu2099=) c.6375G= (p.Glu2125=) c.3430G= n.377G= c.5973G= (p.Glu1991=) | |
15 | g.40651555G>T | CA391773546 | KNL1 | c.6297G>T (p.Glu2099Asp) c.6375G>T (p.Glu2125Asp) c.3430G>T n.377G>T c.5973G>T (p.Glu1991Asp) | |
15 | g.40651556C>A | CA391773548 | KNL1 | c.6298C>A (p.Leu2100Ile) c.6376C>A (p.Leu2126Ile) c.3431C>A n.378C>A c.5974C>A (p.Leu1992Ile) | gnomAD v4 |
15 | g.40651556C>G | CA391773550 | KNL1 | c.6298C>G (p.Leu2100Val) c.6376C>G (p.Leu2126Val) c.3431C>G n.378C>G c.5974C>G (p.Leu1992Val) | |
15 | g.40651556C>T | CA489773021 | KNL1 | c.6298C>T (p.Leu2100=) c.6376C>T (p.Leu2126=) c.3431C>T n.378C>T c.5974C>T (p.Leu1992=) | |
15 | g.40651557T>A | CA391773552 | KNL1 | c.6299T>A (p.Leu2100Gln) c.6377T>A (p.Leu2126Gln) c.3432T>A n.379T>A c.5975T>A (p.Leu1992Gln) | dbSNP |
15 | g.40651557T>C | CA391773554 | KNL1 | c.6299T>C (p.Leu2100Pro) c.6377T>C (p.Leu2126Pro) c.3432T>C n.379T>C c.5975T>C (p.Leu1992Pro) | |
15 | g.40651557T>G | CA391773556 | KNL1 | c.6299T>G (p.Leu2100Arg) c.6377T>G (p.Leu2126Arg) c.3432T>G n.379T>G c.5975T>G (p.Leu1992Arg) | |
15 | g.40651557T= | CA2171877504 | KNL1 | c.6299T= (p.Leu2100=) c.6377T= (p.Leu2126=) c.3432T= n.379T= c.5975T= (p.Leu1992=) | |
15 | g.40651558A= | CA2171877505 | KNL1 | c.6300A= (p.Leu2100=) c.6378A= (p.Leu2126=) c.3433A= n.380A= c.5976A= (p.Leu1992=) | |
15 | g.40651558A>C | CA489773022 | KNL1 | c.6300A>C (p.Leu2100=) c.6378A>C (p.Leu2126=) c.3433A>C n.380A>C c.5976A>C (p.Leu1992=) | |
15 | g.40651558A>G | CA7483670 | KNL1 | c.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 |
15 | g.40651558A>T | CA489773023 | KNL1 | c.6300A>T (p.Leu2100=) c.6378A>T (p.Leu2126=) c.3433A>T n.380A>T c.5976A>T (p.Leu1992=) | |
15 | g.40651559C>A | CA391773558 | KNL1 | c.6301C>A (p.Leu2101Met) c.6379C>A (p.Leu2127Met) c.3434C>A n.381C>A c.5977C>A (p.Leu1993Met) | |
15 | g.40651559C>G | CA391773560 | KNL1 | c.6301C>G (p.Leu2101Val) c.6379C>G (p.Leu2127Val) c.3434C>G n.381C>G c.5977C>G (p.Leu1993Val) | gnomAD v4 |
15 | g.40651559C>T | CA489773024 | KNL1 | c.6301C>T (p.Leu2101=) c.6379C>T (p.Leu2127=) c.3434C>T n.381C>T c.5977C>T (p.Leu1993=) | gnomAD v4 |
15 | g.40651560T>A | CA391773563 | KNL1 | c.6302T>A (p.Leu2101Gln) c.6380T>A (p.Leu2127Gln) c.3435T>A n.382T>A c.5978T>A (p.Leu1993Gln) | |
15 | g.40651560T>C | CA391773564 | KNL1 | c.6302T>C (p.Leu2101Pro) c.6380T>C (p.Leu2127Pro) c.3435T>C n.382T>C c.5978T>C (p.Leu1993Pro) | |
15 | g.40651560T>G | CA391773566 | KNL1 | c.6302T>G (p.Leu2101Arg) c.6380T>G (p.Leu2127Arg) c.3435T>G n.382T>G c.5978T>G (p.Leu1993Arg) | |
15 | g.40651560_40651561delinsTG | CA2171877506 | KNL1 | c.6302_6303delinsTG (p.Leu2101=) c.6380_6381delinsTG (p.Leu2127=) c.3435_3436delinsTG n.382_383delinsTG c.5978_5979delinsTG (p.Leu1993=) | |
15 | g.40651561G>A | CA489773025 | KNL1 | c.6303G>A (p.Leu2101=) c.6381G>A (p.Leu2127=) c.3436G>A n.383G>A c.5979G>A (p.Leu1993=) | gnomAD v4 |
15 | g.40651561G>C | CA489773026 | KNL1 | c.6303G>C (p.Leu2101=) c.6381G>C (p.Leu2127=) c.3436G>C n.383G>C c.5979G>C (p.Leu1993=) | |
15 | g.40651561G>T | CA489773027 | KNL1 | c.6303G>T (p.Leu2101=) c.6381G>T (p.Leu2127=) c.3436G>T n.383G>T c.5979G>T (p.Leu1993=) | gnomAD v4 |
15 | g.40651562del | CA16619924 | KNL1 | c.6304del (p.Asp2102IlefsTer3) c.6382del (p.Asp2128IlefsTer3) c.3437del n.384del c.5980del (p.Asp1994IlefsTer3) | ClinVar dbSNP |
15 | g.40651562G>A | CA391773568 | KNL1 | c.6304G>A (p.Asp2102Asn) c.6382G>A (p.Asp2128Asn) c.3437G>A n.384G>A c.5980G>A (p.Asp1994Asn) | |
15 | g.40651562G>C | CA391773569 | KNL1 | c.6304G>C (p.Asp2102His) c.6382G>C (p.Asp2128His) c.3437G>C n.384G>C c.5980G>C (p.Asp1994His) | |
15 | g.40651562G>T | CA391773571 | KNL1 | c.6304G>T (p.Asp2102Tyr) c.6382G>T (p.Asp2128Tyr) c.3437G>T n.384G>T c.5980G>T (p.Asp1994Tyr) | gnomAD v4 |
15 | g.40651563A>C | CA391773578 | KNL1 | c.6305A>C (p.Asp2102Ala) c.6383A>C (p.Asp2128Ala) c.3438A>C n.385A>C c.5981A>C (p.Asp1994Ala) | |
15 | g.40651563A>G | CA391773574 | KNL1 | c.6305A>G (p.Asp2102Gly) c.6383A>G (p.Asp2128Gly) c.3438A>G n.385A>G c.5981A>G (p.Asp1994Gly) | gnomAD v4 |
15 | g.40651563A>T | CA391773575 | KNL1 | c.6305A>T (p.Asp2102Val) c.6383A>T (p.Asp2128Val) c.3438A>T n.385A>T c.5981A>T (p.Asp1994Val) | |
15 | g.40651564T>A | CA391773579 | KNL1 | c.6306T>A (p.Asp2102Glu) c.6384T>A (p.Asp2128Glu) c.3439T>A n.386T>A c.5982T>A (p.Asp1994Glu) | |
15 | g.40651564T>C | CA489773028 | KNL1 | c.6306T>C (p.Asp2102=) c.6384T>C (p.Asp2128=) c.3439T>C n.386T>C c.5982T>C (p.Asp1994=) | |
15 | g.40651564T>G | CA391773580 | KNL1 | c.6306T>G (p.Asp2102Glu) c.6384T>G (p.Asp2128Glu) c.3439T>G n.386T>G c.5982T>G (p.Asp1994Glu) | |
15 | g.40651565C>A | CA391773583 | KNL1 | c.6307C>A (p.Gln2103Lys) c.6385C>A (p.Gln2129Lys) c.3440C>A n.387C>A c.5983C>A (p.Gln1995Lys) | gnomAD v4 |
15 | g.40651565C>G | CA391773585 | KNL1 | c.6307C>G (p.Gln2103Glu) c.6385C>G (p.Gln2129Glu) c.3440C>G n.387C>G c.5983C>G (p.Gln1995Glu) | |
15 | g.40651565C>T | CA391773586 | KNL1 | c.6307C>T (p.Gln2103Ter) c.6385C>T (p.Gln2129Ter) c.3440C>T n.387C>T c.5983C>T (p.Gln1995Ter) | |
15 | g.40651566A= | CA2171877507 | KNL1 | c.6308A= (p.Gln2103=) c.6386A= (p.Gln2129=) c.3441A= n.388A= c.5984A= (p.Gln1995=) | |
15 | g.40651566A>C | CA391773588 | KNL1 | c.6308A>C (p.Gln2103Pro) c.6386A>C (p.Gln2129Pro) c.3441A>C n.388A>C c.5984A>C (p.Gln1995Pro) | |
15 | g.40651566A>G | CA391773592 | KNL1 | c.6308A>G (p.Gln2103Arg) c.6386A>G (p.Gln2129Arg) c.3441A>G n.388A>G c.5984A>G (p.Gln1995Arg) | dbSNP |
15 | g.40651566A>T | CA391773590 | KNL1 | c.6308A>T (p.Gln2103Leu) c.6386A>T (p.Gln2129Leu) c.3441A>T n.388A>T c.5984A>T (p.Gln1995Leu) | |
15 | g.40651567G>A | CA489773029 | KNL1 | c.6309G>A (p.Gln2103=) c.6387G>A (p.Gln2129=) c.3442G>A n.389G>A c.5985G>A (p.Gln1995=) | |
15 | g.40651567G>C | CA7483671 | KNL1 | c.6309G>C (p.Gln2103His) c.6387G>C (p.Gln2129His) c.3442G>C n.389G>C c.5985G>C (p.Gln1995His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40651567G= | CA2171877508 | KNL1 | c.6309G= (p.Gln2103=) c.6387G= (p.Gln2129=) c.3442G= n.389G= c.5985G= (p.Gln1995=) | |
15 | g.40651567G>T | CA391773595 | KNL1 | c.6309G>T (p.Gln2103His) c.6387G>T (p.Gln2129His) c.3442G>T n.389G>T c.5985G>T (p.Gln1995His) | |
15 | g.40651568T>A | CA391773597 | KNL1 | c.6310T>A (p.Leu2104Met) c.6388T>A (p.Leu2130Met) c.3443T>A n.390T>A c.5986T>A (p.Leu1996Met) | |
15 | g.40651568T>C | CA268840190 | KNL1 | c.6310T>C (p.Leu2104=) c.6388T>C (p.Leu2130=) c.3443T>C n.390T>C c.5986T>C (p.Leu1996=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.40651568T>G | CA391773600 | KNL1 | c.6310T>G (p.Leu2104Val) c.6388T>G (p.Leu2130Val) c.3443T>G n.390T>G c.5986T>G (p.Leu1996Val) | |
15 | g.40651568T= | CA2171877509 | KNL1 | c.6310T= (p.Leu2104=) c.6388T= (p.Leu2130=) c.3443T= n.390T= c.5986T= (p.Leu1996=) | |
15 | g.40651569T>A | CA391773601 | KNL1 | c.6311T>A (p.Leu2104Ter) c.6389T>A (p.Leu2130Ter) c.3444T>A n.391T>A c.5987T>A (p.Leu1996Ter) | |
15 | g.40651569T>C | CA391773603 | KNL1 | c.6311T>C (p.Leu2104Ser) c.6389T>C (p.Leu2130Ser) c.3444T>C n.391T>C c.5987T>C (p.Leu1996Ser) | |
15 | g.40651569T>G | CA7483672 | KNL1 | c.6311T>G (p.Leu2104Trp) c.6389T>G (p.Leu2130Trp) c.3444T>G n.391T>G c.5987T>G (p.Leu1996Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40651569T= | CA2171877510 | KNL1 | c.6311T= (p.Leu2104=) c.6389T= (p.Leu2130=) c.3444T= n.391T= c.5987T= (p.Leu1996=) |