Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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)
15g.40651567G>ACA489773029KNL1c.6309G>A (p.Gln2103=)
c.6387G>A (p.Gln2129=)
c.3442G>A
n.389G>A
c.5985G>A (p.Gln1995=)
15g.40651567G>CCA7483671KNL1c.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
15g.40651567G=CA2171877508KNL1c.6309G= (p.Gln2103=)
c.6387G= (p.Gln2129=)
c.3442G=
n.389G=
c.5985G= (p.Gln1995=)
15g.40651567G>TCA391773595KNL1c.6309G>T (p.Gln2103His)
c.6387G>T (p.Gln2129His)
c.3442G>T
n.389G>T
c.5985G>T (p.Gln1995His)
15g.40651568T>ACA391773597KNL1c.6310T>A (p.Leu2104Met)
c.6388T>A (p.Leu2130Met)
c.3443T>A
n.390T>A
c.5986T>A (p.Leu1996Met)
15g.40651568T>CCA268840190KNL1c.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
15g.40651568T>GCA391773600KNL1c.6310T>G (p.Leu2104Val)
c.6388T>G (p.Leu2130Val)
c.3443T>G
n.390T>G
c.5986T>G (p.Leu1996Val)
15g.40651568T=CA2171877509KNL1c.6310T= (p.Leu2104=)
c.6388T= (p.Leu2130=)
c.3443T=
n.390T=
c.5986T= (p.Leu1996=)
15g.40651569T>ACA391773601KNL1c.6311T>A (p.Leu2104Ter)
c.6389T>A (p.Leu2130Ter)
c.3444T>A
n.391T>A
c.5987T>A (p.Leu1996Ter)
15g.40651569T>CCA391773603KNL1c.6311T>C (p.Leu2104Ser)
c.6389T>C (p.Leu2130Ser)
c.3444T>C
n.391T>C
c.5987T>C (p.Leu1996Ser)
15g.40651569T>GCA7483672KNL1c.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
15g.40651569T=CA2171877510KNL1c.6311T= (p.Leu2104=)
c.6389T= (p.Leu2130=)
c.3444T=
n.391T=
c.5987T= (p.Leu1996=)
15g.40651570G>ACA489773030KNL1c.6312G>A (p.Leu2104=)
c.6390G>A (p.Leu2130=)
c.3445G>A
n.392G>A
c.5988G>A (p.Leu1996=)
 dbSNP
15g.40651570G>CCA391773606KNL1c.6312G>C (p.Leu2104Phe)
c.6390G>C (p.Leu2130Phe)
c.3445G>C
n.392G>C
c.5988G>C (p.Leu1996Phe)
15g.40651570G=CA2171877511KNL1c.6312G= (p.Leu2104=)
c.6390G= (p.Leu2130=)
c.3445G=
n.392G=
c.5988G= (p.Leu1996=)
15g.40651570G>TCA391773608KNL1c.6312G>T (p.Leu2104Phe)
c.6390G>T (p.Leu2130Phe)
c.3445G>T
n.392G>T
c.5988G>T (p.Leu1996Phe)
15g.40651571A=CA2171877512KNL1c.6313A= (p.Ser2105=)
c.6391A= (p.Ser2131=)
c.3446A=
n.393A=
c.5989A= (p.Ser1997=)
15g.40651571A>CCA7483673KNL1c.6313A>C (p.Ser2105Arg)
c.6391A>C (p.Ser2131Arg)
c.3446A>C
n.393A>C
c.5989A>C (p.Ser1997Arg)
 dbSNP ExAC gnomAD v4
15g.40651571A>GCA391773611KNL1c.6313A>G (p.Ser2105Gly)
c.6391A>G (p.Ser2131Gly)
c.3446A>G
n.393A>G
c.5989A>G (p.Ser1997Gly)
 gnomAD v4
15g.40651571A>TCA391773610KNL1c.6313A>T (p.Ser2105Cys)
c.6391A>T (p.Ser2131Cys)
c.3446A>T
n.393A>T
c.5989A>T (p.Ser1997Cys)
15g.40651572G>ACA391773613KNL1c.6314G>A (p.Ser2105Asn)
c.6392G>A (p.Ser2131Asn)
c.3447G>A
n.394G>A
c.5990G>A (p.Ser1997Asn)
15g.40651572G>CCA391773616KNL1c.6314G>C (p.Ser2105Thr)
c.6392G>C (p.Ser2131Thr)
c.3447G>C
n.394G>C
c.5990G>C (p.Ser1997Thr)
15g.40651572G>TCA391773615KNL1c.6314G>T (p.Ser2105Ile)
c.6392G>T (p.Ser2131Ile)
c.3447G>T
n.394G>T
c.5990G>T (p.Ser1997Ile)
 gnomAD v4
15g.40651573G>ACA391773618KNL1c.6314+1G>A (n.6314+1G>A)
c.6392+1G>A (n.6392+1G>A)
c.3447+1G>A
n.394+1G>A
c.5990+1G>A (n.5990+1G>A)
15g.40651573G>CCA391773620KNL1c.6314+1G>C (n.6314+1G>C)
c.6392+1G>C (n.6392+1G>C)
c.3447+1G>C
n.394+1G>C
c.5990+1G>C (n.5990+1G>C)
15g.40651573G>TCA391773622KNL1c.6314+1G>T (n.6314+1G>T)
c.6392+1G>T (n.6392+1G>T)
c.3447+1G>T
n.394+1G>T
c.5990+1G>T (n.5990+1G>T)
15g.40651574T>ACA391773624KNL1c.6314+2T>A (n.6314+2T>A)
c.6392+2T>A (n.6392+2T>A)
c.3447+2T>A
n.394+2T>A
c.5990+2T>A (n.5990+2T>A)
15g.40651574T>CCA391773626KNL1c.6314+2T>C (n.6314+2T>C)
c.6392+2T>C (n.6392+2T>C)
c.3447+2T>C
n.394+2T>C
c.5990+2T>C (n.5990+2T>C)
15g.40651574T>GCA391773627KNL1c.6314+2T>G (n.6314+2T>G)
c.6392+2T>G (n.6392+2T>G)
c.3447+2T>G
n.394+2T>G
c.5990+2T>G (n.5990+2T>G)
15g.40651577G>TCA2627840440KNL1c.6314+5G>T (n.6314+5G>T)
c.6392+5G>T (n.6392+5G>T)
c.3447+5G>T
n.394+5G>T
c.5990+5G>T (n.5990+5G>T)
 gnomAD v4
15g.40651578G>ACA2627840441KNL1c.6314+6G>A (n.6314+6G>A)
c.6392+6G>A (n.6392+6G>A)
c.3447+6G>A
n.394+6G>A
c.5990+6G>A (n.5990+6G>A)
 gnomAD v4
15g.40651581A=CA2171877513KNL1c.6314+9A= (n.6314+9A=)
c.6392+9A= (n.6392+9A=)
c.3447+9A=
n.394+9A=
c.5990+9A= (n.5990+9A=)
15g.40651581A>GCA7483674KNL1c.6314+9A>G (n.6314+9A>G)
c.6392+9A>G (n.6392+9A>G)
c.3447+9A>G
n.394+9A>G
c.5990+9A>G (n.5990+9A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40651582T>GCA2627840445KNL1c.6314+10T>G (n.6314+10T>G)
c.6392+10T>G (n.6392+10T>G)
c.3447+10T>G
n.394+10T>G
c.5990+10T>G (n.5990+10T>G)
 gnomAD v4
15g.40651583G>ACA617247298KNL1c.6314+11G>A (n.6314+11G>A)
c.6392+11G>A (n.6392+11G>A)
c.3447+11G>A
n.394+11G>A
c.5990+11G>A (n.5990+11G>A)
 dbSNP gnomAD v2 gnomAD v4
15g.40651583G>CCA7483675KNL1c.6314+11G>C (n.6314+11G>C)
c.6392+11G>C (n.6392+11G>C)
c.3447+11G>C
n.394+11G>C
c.5990+11G>C (n.5990+11G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.40651583G=CA2171877514KNL1c.6314+11G= (n.6314+11G=)
c.6392+11G= (n.6392+11G=)
c.3447+11G=
n.394+11G=
c.5990+11G= (n.5990+11G=)
15g.40651583G>TCA617247299KNL1c.6314+11G>T (n.6314+11G>T)
c.6392+11G>T (n.6392+11G>T)
c.3447+11G>T
n.394+11G>T
c.5990+11G>T (n.5990+11G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.40651584C>ACA268840200KNL1c.6314+12C>A (n.6314+12C>A)
c.6392+12C>A (n.6392+12C>A)
c.3447+12C>A
n.394+12C>A
c.5990+12C>A (n.5990+12C>A)
 dbSNP gnomAD v4
15g.40651584C=CA2171877515KNL1c.6314+12C= (n.6314+12C=)
c.6392+12C= (n.6392+12C=)
c.3447+12C=
n.394+12C=
c.5990+12C= (n.5990+12C=)
15g.40651584C>TCA2627840449KNL1c.6314+12C>T (n.6314+12C>T)
c.6392+12C>T (n.6392+12C>T)
c.3447+12C>T
n.394+12C>T
c.5990+12C>T (n.5990+12C>T)
 gnomAD v4
15g.40651585A>GCA2575680579KNL1c.6314+13A>G (n.6314+13A>G)
c.6392+13A>G (n.6392+13A>G)
c.3447+13A>G
n.394+13A>G
c.5990+13A>G (n.5990+13A>G)
 gnomAD v4
15g.40651586G>ACA2627840450KNL1c.6314+14G>A (n.6314+14G>A)
c.6392+14G>A (n.6392+14G>A)
c.3447+14G>A
n.394+14G>A
c.5990+14G>A (n.5990+14G>A)
 gnomAD v4
15g.40651587G>ACA7483676KNL1c.6314+15G>A (n.6314+15G>A)
c.6392+15G>A (n.6392+15G>A)
c.3447+15G>A
n.394+15G>A
c.5990+15G>A (n.5990+15G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.40651587G=CA2171877516KNL1c.6314+15G= (n.6314+15G=)
c.6392+15G= (n.6392+15G=)
c.3447+15G=
n.394+15G=
c.5990+15G= (n.5990+15G=)
15g.40651588C>ACA2553225493KNL1c.6314+16C>A (n.6314+16C>A)
c.6392+16C>A (n.6392+16C>A)
c.3447+16C>A
n.394+16C>A
c.5990+16C>A (n.5990+16C>A)
 gnomAD v4
15g.40651589A>GCA2627840453KNL1c.6314+17A>G (n.6314+17A>G)
c.6392+17A>G (n.6392+17A>G)
c.3447+17A>G
n.394+17A>G
c.5990+17A>G (n.5990+17A>G)
 gnomAD v4
15g.40651590T>CCA2627840454KNL1c.6314+18T>C (n.6314+18T>C)
c.6392+18T>C (n.6392+18T>C)
c.3447+18T>C
n.394+18T>C
c.5990+18T>C (n.5990+18T>C)
 gnomAD v4
15g.40651590T>GCA712763518KNL1c.6314+18T>G (n.6314+18T>G)
c.6392+18T>G (n.6392+18T>G)
c.3447+18T>G
n.394+18T>G
c.5990+18T>G (n.5990+18T>G)
 dbSNP gnomAD v3 gnomAD v4
15g.40651590T=CA2171877517KNL1c.6314+18T= (n.6314+18T=)
c.6392+18T= (n.6392+18T=)
c.3447+18T=
n.394+18T=
c.5990+18T= (n.5990+18T=)
15g.40651591C>ACA2627840456KNL1c.6314+19C>A (n.6314+19C>A)
c.6392+19C>A (n.6392+19C>A)
c.3447+19C>A
n.394+19C>A
c.5990+19C>A (n.5990+19C>A)
 gnomAD v4
15g.40651592A>GCA2627840457KNL1c.6314+20A>G (n.6314+20A>G)
c.6392+20A>G (n.6392+20A>G)
c.3447+20A>G
n.394+20A>G
c.5990+20A>G (n.5990+20A>G)
 gnomAD v4
15g.40651592_40651596delinsATTTGCA2171877518KNL1c.6314+20_6314+24delinsATTTG (n.6314+20_6314+24delinsATTTG)
c.6392+20_6392+24delinsATTTG (n.6392+20_6392+24delinsATTTG)
c.3447+20_3447+24delinsATTTG
n.394+20_394+24delinsATTTG
c.5990+20_5990+24delinsATTTG (n.5990+20_5990+24delinsATTTG)
15g.40651598_40651601delCA268840204KNL1c.6314+26_6314+29del (n.6314+26_6314+29del)
c.6392+26_6392+29del (n.6392+26_6392+29del)
c.3447+26_3447+29del
n.394+26_394+29del
c.5990+26_5990+29del (n.5990+26_5990+29del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.40651599T>GCA2171877520KNL1c.6314+27T>G (n.6314+27T>G)
c.6392+27T>G (n.6392+27T>G)
c.3447+27T>G
n.394+27T>G
c.5990+27T>G (n.5990+27T>G)
 dbSNP gnomAD v4
15g.40651599T=CA2171877519KNL1c.6314+27T= (n.6314+27T=)
c.6392+27T= (n.6392+27T=)
c.3447+27T=
n.394+27T=
c.5990+27T= (n.5990+27T=)
15g.40651600G>ACA2627840461KNL1c.6314+28G>A (n.6314+28G>A)
c.6392+28G>A (n.6392+28G>A)
c.3447+28G>A
n.394+28G>A
c.5990+28G>A (n.5990+28G>A)
 gnomAD v4
15g.40651600G>CCA2627840463KNL1c.6314+28G>C (n.6314+28G>C)
c.6392+28G>C (n.6392+28G>C)
c.3447+28G>C
n.394+28G>C
c.5990+28G>C (n.5990+28G>C)
 gnomAD v4
15g.40651601T>GCA2803863453KNL1c.6314+29T>G (n.6314+29T>G)
c.6392+29T>G (n.6392+29T>G)
c.3447+29T>G
n.394+29T>G
c.5990+29T>G (n.5990+29T>G)
15g.40651603T>CCA7483677KNL1c.6314+31T>C (n.6314+31T>C)
c.6392+31T>C (n.6392+31T>C)
c.3447+31T>C
n.394+31T>C
c.5990+31T>C (n.5990+31T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40651603T=CA2171877521KNL1c.6314+31T= (n.6314+31T=)
c.6392+31T= (n.6392+31T=)
c.3447+31T=
n.394+31T=
c.5990+31T= (n.5990+31T=)
15g.40651604T>GCA2627840464KNL1c.6314+32T>G (n.6314+32T>G)
c.6392+32T>G (n.6392+32T>G)
c.3447+32T>G
n.394+32T>G
c.5990+32T>G (n.5990+32T>G)
 gnomAD v4
15g.40651605T>CCA2627840467KNL1c.6314+33T>C (n.6314+33T>C)
c.6392+33T>C (n.6392+33T>C)
c.3447+33T>C
n.394+33T>C
c.5990+33T>C (n.5990+33T>C)
 gnomAD v4
15g.40651610C>ACA2627840469KNL1c.6314+38C>A (n.6314+38C>A)
c.6392+38C>A (n.6392+38C>A)
c.3447+38C>A
n.394+38C>A
c.5990+38C>A (n.5990+38C>A)
 gnomAD v4
15g.40651612G>ACA2627840470KNL1c.6314+40G>A (n.6314+40G>A)
c.6392+40G>A (n.6392+40G>A)
c.3447+40G>A
n.394+40G>A
c.5990+40G>A (n.5990+40G>A)
 gnomAD v4
15g.40651613T>GCA2627840472KNL1c.6314+41T>G (n.6314+41T>G)
c.6392+41T>G (n.6392+41T>G)
c.3447+41T>G
n.394+41T>G
c.5990+41T>G (n.5990+41T>G)
 gnomAD v4
15g.40651614A=CA2171877522KNL1c.6314+42A= (n.6314+42A=)
c.6392+42A= (n.6392+42A=)
c.3447+42A=
n.394+42A=
c.5990+42A= (n.5990+42A=)
15g.40651614A>GCA617247301KNL1c.6314+42A>G (n.6314+42A>G)
c.6392+42A>G (n.6392+42A>G)
c.3447+42A>G
n.394+42A>G
c.5990+42A>G (n.5990+42A>G)
 dbSNP gnomAD v2 gnomAD v4
15g.40651615C>ACA2575680580KNL1c.6314+43C>A (n.6314+43C>A)
c.6392+43C>A (n.6392+43C>A)
c.3447+43C>A
n.394+43C>A
c.5990+43C>A (n.5990+43C>A)
 gnomAD v4
15g.40651615C>TCA2627840476KNL1c.6314+43C>T (n.6314+43C>T)
c.6392+43C>T (n.6392+43C>T)
c.3447+43C>T
n.394+43C>T
c.5990+43C>T (n.5990+43C>T)
 gnomAD v4
15g.40651616C>ACA2171877524KNL1c.6314+44C>A (n.6314+44C>A)
c.6392+44C>A (n.6392+44C>A)
c.3447+44C>A
n.394+44C>A
c.5990+44C>A (n.5990+44C>A)
 dbSNP gnomAD v4
15g.40651616C=CA2171877523KNL1c.6314+44C= (n.6314+44C=)
c.6392+44C= (n.6392+44C=)
c.3447+44C=
n.394+44C=
c.5990+44C= (n.5990+44C=)
15g.40651616C>TCA617247302KNL1c.6314+44C>T (n.6314+44C>T)
c.6392+44C>T (n.6392+44C>T)
c.3447+44C>T
n.394+44C>T
c.5990+44C>T (n.5990+44C>T)
 dbSNP gnomAD v2 gnomAD v4
15g.40651616_40651617delinsCTCA2171877525KNL1c.6314+44_6314+45delinsCT (n.6314+44_6314+45delinsCT)
c.6392+44_6392+45delinsCT (n.6392+44_6392+45delinsCT)
c.3447+44_3447+45delinsCT
n.394+44_394+45delinsCT
c.5990+44_5990+45delinsCT (n.5990+44_5990+45delinsCT)
15g.40651617T>CCA2575680581KNL1c.6314+45T>C (n.6314+45T>C)
c.6392+45T>C (n.6392+45T>C)
c.3447+45T>C
n.394+45T>C
c.5990+45T>C (n.5990+45T>C)
 gnomAD v4
15g.40651618delCA617247303KNL1c.6314+46del (n.6314+46del)
c.6392+46del (n.6392+46del)
c.3447+46del
n.394+46del
c.5990+46del (n.5990+46del)
 dbSNP gnomAD v2 gnomAD v4
15g.40651618T>CCA2575680582KNL1c.6314+46T>C (n.6314+46T>C)
c.6392+46T>C (n.6392+46T>C)
c.3447+46T>C
n.394+46T>C
c.5990+46T>C (n.5990+46T>C)
 gnomAD v4
15g.40651618T>GCA2803863454KNL1c.6314+46T>G (n.6314+46T>G)
c.6392+46T>G (n.6392+46T>G)
c.3447+46T>G
n.394+46T>G
c.5990+46T>G (n.5990+46T>G)
15g.40651618_40651621delinsTGTGCA2171877526KNL1c.6314+46_6314+49delinsTGTG (n.6314+46_6314+49delinsTGTG)
c.6392+46_6392+49delinsTGTG (n.6392+46_6392+49delinsTGTG)
c.3447+46_3447+49delinsTGTG
n.394+46_394+49delinsTGTG
c.5990+46_5990+49delinsTGTG (n.5990+46_5990+49delinsTGTG)
15g.40651619G>ACA617247306KNL1c.6314+47G>A (n.6314+47G>A)
c.6392+47G>A (n.6392+47G>A)
c.3447+47G>A
n.394+47G>A
c.5990+47G>A (n.5990+47G>A)
 dbSNP gnomAD v2 gnomAD v4
15g.40651619G=CA2171877527KNL1c.6314+47G= (n.6314+47G=)
c.6392+47G= (n.6392+47G=)
c.3447+47G=
n.394+47G=
c.5990+47G= (n.5990+47G=)
15g.40651621_40651623delCA617247304KNL1c.6314+49_6314+51del (n.6314+49_6314+51del)
c.6392+49_6392+51del (n.6392+49_6392+51del)
c.3447+49_3447+51del
n.394+49_394+51del
c.5990+49_5990+51del (n.5990+49_5990+51del)
 dbSNP gnomAD v2 gnomAD v4
15g.40651620T>CCA712763529KNL1c.6314+48T>C (n.6314+48T>C)
c.6392+48T>C (n.6392+48T>C)
c.3447+48T>C
n.394+48T>C
c.5990+48T>C (n.5990+48T>C)
 dbSNP
15g.40651620T=CA2171877528KNL1c.6314+48T= (n.6314+48T=)
c.6392+48T= (n.6392+48T=)
c.3447+48T=
n.394+48T=
c.5990+48T= (n.5990+48T=)
15g.40651621G>ACA2529322305KNL1c.6314+49G>A (n.6314+49G>A)
c.6392+49G>A (n.6392+49G>A)
c.3447+49G>A
n.394+49G>A
c.5990+49G>A (n.5990+49G>A)
 gnomAD v4
15g.40651622dupCA712763533KNL1c.6314+50dup (n.6314+50dup)
c.6392+50dup (n.6392+50dup)
c.3447+50dup
n.394+50dup
c.5990+50dup (n.5990+50dup)
 dbSNP
15g.40651622G>ACA2627840487KNL1c.6314+50G>A (n.6314+50G>A)
c.6392+50G>A (n.6392+50G>A)
c.3447+50G>A
n.394+50G>A
c.5990+50G>A (n.5990+50G>A)
 gnomAD v4
15g.40651623T>ACA2627840489KNL1c.6314+51T>A (n.6314+51T>A)
c.6392+51T>A (n.6392+51T>A)
c.3447+51T>A
n.394+51T>A
c.5990+51T>A (n.5990+51T>A)
 gnomAD v4
15g.40651623T>CCA2171877530KNL1c.6314+51T>C (n.6314+51T>C)
c.6392+51T>C (n.6392+51T>C)
c.3447+51T>C
n.394+51T>C
c.5990+51T>C (n.5990+51T>C)
 dbSNP
15g.40651623T=CA2171877529KNL1c.6314+51T= (n.6314+51T=)
c.6392+51T= (n.6392+51T=)
c.3447+51T=
n.394+51T=
c.5990+51T= (n.5990+51T=)
15g.40651624T>GCA7483678KNL1c.6314+52T>G (n.6314+52T>G)
c.6392+52T>G (n.6392+52T>G)
c.3447+52T>G
n.394+52T>G
c.5990+52T>G (n.5990+52T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.40651624T=CA2171877531KNL1c.6314+52T= (n.6314+52T=)
c.6392+52T= (n.6392+52T=)
c.3447+52T=
n.394+52T=
c.5990+52T= (n.5990+52T=)
15g.40651625G>CCA268840212KNL1c.6314+53G>C (n.6314+53G>C)
c.6392+53G>C (n.6392+53G>C)
c.3447+53G>C
n.394+53G>C
c.5990+53G>C (n.5990+53G>C)
 dbSNP
15g.40651625G=CA2171877532KNL1c.6314+53G= (n.6314+53G=)
c.6392+53G= (n.6392+53G=)
c.3447+53G=
n.394+53G=
c.5990+53G= (n.5990+53G=)
15g.40651625G>TCA268840215KNL1c.6314+53G>T (n.6314+53G>T)
c.6392+53G>T (n.6392+53G>T)
c.3447+53G>T
n.394+53G>T
c.5990+53G>T (n.5990+53G>T)
 dbSNP gnomAD v3 gnomAD v4
15g.40651626T>CCA2171877534KNL1c.6314+54T>C (n.6314+54T>C)
c.6392+54T>C (n.6392+54T>C)
c.3447+54T>C
n.394+54T>C
c.5990+54T>C (n.5990+54T>C)
 dbSNP gnomAD v4
15g.40651626T=CA2171877533KNL1c.6314+54T= (n.6314+54T=)
c.6392+54T= (n.6392+54T=)
c.3447+54T=
n.394+54T=
c.5990+54T= (n.5990+54T=)
15g.40651628T>ACA2575680583KNL1c.6314+56T>A (n.6314+56T>A)
c.6392+56T>A (n.6392+56T>A)
c.3447+56T>A
n.394+56T>A
c.5990+56T>A (n.5990+56T>A)
 gnomAD v4
15g.40651629_40651633delinsAAACCCA2171877535KNL1c.6314+57_6314+61delinsAAACC (n.6314+57_6314+61delinsAAACC)
c.6392+57_6392+61delinsAAACC (n.6392+57_6392+61delinsAAACC)
c.3447+57_3447+61delinsAAACC
n.394+57_394+61delinsAAACC
c.5990+57_5990+61delinsAAACC (n.5990+57_5990+61delinsAAACC)
15g.40651630_40651633delCA2171877536KNL1c.6314+58_6314+61del (n.6314+58_6314+61del)
c.6392+58_6392+61del (n.6392+58_6392+61del)
c.3447+58_3447+61del
n.394+58_394+61del
c.5990+58_5990+61del (n.5990+58_5990+61del)
 dbSNP
15g.40651631A>GCA2627840491KNL1c.6314+59A>G (n.6314+59A>G)
c.6392+59A>G (n.6392+59A>G)
c.3447+59A>G
n.394+59A>G
c.5990+59A>G (n.5990+59A>G)
 gnomAD v4
15g.40651632C>ACA2627840492KNL1c.6314+60C>A (n.6314+60C>A)
c.6392+60C>A (n.6392+60C>A)
c.3447+60C>A
n.394+60C>A
c.5990+60C>A (n.5990+60C>A)
 gnomAD v4
15g.40651632C>TCA2627840493KNL1c.6314+60C>T (n.6314+60C>T)
c.6392+60C>T (n.6392+60C>T)
c.3447+60C>T
n.394+60C>T
c.5990+60C>T (n.5990+60C>T)
 gnomAD v4

Number of alleles fetched