Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
15 | g.40651570G>A | CA489773030 | KNL1 | c.6312G>A (p.Leu2104=) c.6390G>A (p.Leu2130=) c.3445G>A n.392G>A c.5988G>A (p.Leu1996=) | dbSNP |
15 | g.40651570G>C | CA391773606 | KNL1 | c.6312G>C (p.Leu2104Phe) c.6390G>C (p.Leu2130Phe) c.3445G>C n.392G>C c.5988G>C (p.Leu1996Phe) | |
15 | g.40651570G= | CA2171877511 | KNL1 | c.6312G= (p.Leu2104=) c.6390G= (p.Leu2130=) c.3445G= n.392G= c.5988G= (p.Leu1996=) | |
15 | g.40651570G>T | CA391773608 | KNL1 | c.6312G>T (p.Leu2104Phe) c.6390G>T (p.Leu2130Phe) c.3445G>T n.392G>T c.5988G>T (p.Leu1996Phe) | |
15 | g.40651571A= | CA2171877512 | KNL1 | c.6313A= (p.Ser2105=) c.6391A= (p.Ser2131=) c.3446A= n.393A= c.5989A= (p.Ser1997=) | |
15 | g.40651571A>C | CA7483673 | KNL1 | c.6313A>C (p.Ser2105Arg) c.6391A>C (p.Ser2131Arg) c.3446A>C n.393A>C c.5989A>C (p.Ser1997Arg) | dbSNP ExAC gnomAD v4 |
15 | g.40651571A>G | CA391773611 | KNL1 | c.6313A>G (p.Ser2105Gly) c.6391A>G (p.Ser2131Gly) c.3446A>G n.393A>G c.5989A>G (p.Ser1997Gly) | gnomAD v4 |
15 | g.40651571A>T | CA391773610 | KNL1 | c.6313A>T (p.Ser2105Cys) c.6391A>T (p.Ser2131Cys) c.3446A>T n.393A>T c.5989A>T (p.Ser1997Cys) | |
15 | g.40651572G>A | CA391773613 | KNL1 | c.6314G>A (p.Ser2105Asn) c.6392G>A (p.Ser2131Asn) c.3447G>A n.394G>A c.5990G>A (p.Ser1997Asn) | |
15 | g.40651572G>C | CA391773616 | KNL1 | c.6314G>C (p.Ser2105Thr) c.6392G>C (p.Ser2131Thr) c.3447G>C n.394G>C c.5990G>C (p.Ser1997Thr) | |
15 | g.40651572G>T | CA391773615 | KNL1 | c.6314G>T (p.Ser2105Ile) c.6392G>T (p.Ser2131Ile) c.3447G>T n.394G>T c.5990G>T (p.Ser1997Ile) | gnomAD v4 |
15 | g.40651573G>A | CA391773618 | KNL1 | c.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) | |
15 | g.40651573G>C | CA391773620 | KNL1 | c.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) | |
15 | g.40651573G>T | CA391773622 | KNL1 | c.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) | |
15 | g.40651574T>A | CA391773624 | KNL1 | c.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) | |
15 | g.40651574T>C | CA391773626 | KNL1 | c.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) | |
15 | g.40651574T>G | CA391773627 | KNL1 | c.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) | |
15 | g.40651577G>T | CA2627840440 | KNL1 | c.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 |
15 | g.40651578G>A | CA2627840441 | KNL1 | c.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 |
15 | g.40651581A= | CA2171877513 | KNL1 | c.6314+9A= (n.6314+9A=) c.6392+9A= (n.6392+9A=) c.3447+9A= n.394+9A= c.5990+9A= (n.5990+9A=) | |
15 | g.40651581A>G | CA7483674 | KNL1 | c.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 |
15 | g.40651582T>G | CA2627840445 | KNL1 | c.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 |
15 | g.40651583G>A | CA617247298 | KNL1 | c.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 |
15 | g.40651583G>C | CA7483675 | KNL1 | c.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 |
15 | g.40651583G= | CA2171877514 | KNL1 | c.6314+11G= (n.6314+11G=) c.6392+11G= (n.6392+11G=) c.3447+11G= n.394+11G= c.5990+11G= (n.5990+11G=) | |
15 | g.40651583G>T | CA617247299 | KNL1 | c.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 |
15 | g.40651584C>A | CA268840200 | KNL1 | c.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 |
15 | g.40651584C= | CA2171877515 | KNL1 | c.6314+12C= (n.6314+12C=) c.6392+12C= (n.6392+12C=) c.3447+12C= n.394+12C= c.5990+12C= (n.5990+12C=) | |
15 | g.40651584C>T | CA2627840449 | KNL1 | c.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 |
15 | g.40651585A>G | CA2575680579 | KNL1 | c.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 |
15 | g.40651586G>A | CA2627840450 | KNL1 | c.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 |
15 | g.40651587G>A | CA7483676 | KNL1 | c.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 |
15 | g.40651587G= | CA2171877516 | KNL1 | c.6314+15G= (n.6314+15G=) c.6392+15G= (n.6392+15G=) c.3447+15G= n.394+15G= c.5990+15G= (n.5990+15G=) | |
15 | g.40651588C>A | CA2553225493 | KNL1 | c.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 |
15 | g.40651589A>G | CA2627840453 | KNL1 | c.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 |
15 | g.40651590T>C | CA2627840454 | KNL1 | c.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 |
15 | g.40651590T>G | CA712763518 | KNL1 | c.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 |
15 | g.40651590T= | CA2171877517 | KNL1 | c.6314+18T= (n.6314+18T=) c.6392+18T= (n.6392+18T=) c.3447+18T= n.394+18T= c.5990+18T= (n.5990+18T=) | |
15 | g.40651591C>A | CA2627840456 | KNL1 | c.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 |
15 | g.40651592A>G | CA2627840457 | KNL1 | c.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 |
15 | g.40651592_40651596delinsATTTG | CA2171877518 | KNL1 | c.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) | |
15 | g.40651598_40651601del | CA268840204 | KNL1 | c.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 |
15 | g.40651599T>G | CA2171877520 | KNL1 | c.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 |
15 | g.40651599T= | CA2171877519 | KNL1 | c.6314+27T= (n.6314+27T=) c.6392+27T= (n.6392+27T=) c.3447+27T= n.394+27T= c.5990+27T= (n.5990+27T=) | |
15 | g.40651600G>A | CA2627840461 | KNL1 | c.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 |
15 | g.40651600G>C | CA2627840463 | KNL1 | c.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 |
15 | g.40651601T>G | CA2803863453 | KNL1 | c.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) | |
15 | g.40651603T>C | CA7483677 | KNL1 | c.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 |
15 | g.40651603T= | CA2171877521 | KNL1 | c.6314+31T= (n.6314+31T=) c.6392+31T= (n.6392+31T=) c.3447+31T= n.394+31T= c.5990+31T= (n.5990+31T=) | |
15 | g.40651604T>G | CA2627840464 | KNL1 | c.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 |
15 | g.40651605T>C | CA2627840467 | KNL1 | c.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 |
15 | g.40651610C>A | CA2627840469 | KNL1 | c.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 |
15 | g.40651612G>A | CA2627840470 | KNL1 | c.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 |
15 | g.40651613T>G | CA2627840472 | KNL1 | c.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 |
15 | g.40651614A= | CA2171877522 | KNL1 | c.6314+42A= (n.6314+42A=) c.6392+42A= (n.6392+42A=) c.3447+42A= n.394+42A= c.5990+42A= (n.5990+42A=) | |
15 | g.40651614A>G | CA617247301 | KNL1 | c.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 |
15 | g.40651615C>A | CA2575680580 | KNL1 | c.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 |
15 | g.40651615C>T | CA2627840476 | KNL1 | c.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 |
15 | g.40651616C>A | CA2171877524 | KNL1 | c.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 |
15 | g.40651616C= | CA2171877523 | KNL1 | c.6314+44C= (n.6314+44C=) c.6392+44C= (n.6392+44C=) c.3447+44C= n.394+44C= c.5990+44C= (n.5990+44C=) | |
15 | g.40651616C>T | CA617247302 | KNL1 | c.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 |
15 | g.40651616_40651617delinsCT | CA2171877525 | KNL1 | c.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) | |
15 | g.40651617T>C | CA2575680581 | KNL1 | c.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 |
15 | g.40651618del | CA617247303 | KNL1 | c.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 |
15 | g.40651618T>C | CA2575680582 | KNL1 | c.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 |
15 | g.40651618T>G | CA2803863454 | KNL1 | c.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) | |
15 | g.40651618_40651621delinsTGTG | CA2171877526 | KNL1 | c.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) | |
15 | g.40651619G>A | CA617247306 | KNL1 | c.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 |
15 | g.40651619G= | CA2171877527 | KNL1 | c.6314+47G= (n.6314+47G=) c.6392+47G= (n.6392+47G=) c.3447+47G= n.394+47G= c.5990+47G= (n.5990+47G=) | |
15 | g.40651621_40651623del | CA617247304 | KNL1 | c.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 |
15 | g.40651620T>C | CA712763529 | KNL1 | c.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 |
15 | g.40651620T= | CA2171877528 | KNL1 | c.6314+48T= (n.6314+48T=) c.6392+48T= (n.6392+48T=) c.3447+48T= n.394+48T= c.5990+48T= (n.5990+48T=) | |
15 | g.40651621G>A | CA2529322305 | KNL1 | c.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 |
15 | g.40651622dup | CA712763533 | KNL1 | c.6314+50dup (n.6314+50dup) c.6392+50dup (n.6392+50dup) c.3447+50dup n.394+50dup c.5990+50dup (n.5990+50dup) | dbSNP |
15 | g.40651622G>A | CA2627840487 | KNL1 | c.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 |
15 | g.40651623T>A | CA2627840489 | KNL1 | c.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 |
15 | g.40651623T>C | CA2171877530 | KNL1 | c.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 |
15 | g.40651623T= | CA2171877529 | KNL1 | c.6314+51T= (n.6314+51T=) c.6392+51T= (n.6392+51T=) c.3447+51T= n.394+51T= c.5990+51T= (n.5990+51T=) | |
15 | g.40651624T>G | CA7483678 | KNL1 | c.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 |
15 | g.40651624T= | CA2171877531 | KNL1 | c.6314+52T= (n.6314+52T=) c.6392+52T= (n.6392+52T=) c.3447+52T= n.394+52T= c.5990+52T= (n.5990+52T=) | |
15 | g.40651625G>C | CA268840212 | KNL1 | c.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 |
15 | g.40651625G= | CA2171877532 | KNL1 | c.6314+53G= (n.6314+53G=) c.6392+53G= (n.6392+53G=) c.3447+53G= n.394+53G= c.5990+53G= (n.5990+53G=) | |
15 | g.40651625G>T | CA268840215 | KNL1 | c.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 |
15 | g.40651626T>C | CA2171877534 | KNL1 | c.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 |
15 | g.40651626T= | CA2171877533 | KNL1 | c.6314+54T= (n.6314+54T=) c.6392+54T= (n.6392+54T=) c.3447+54T= n.394+54T= c.5990+54T= (n.5990+54T=) | |
15 | g.40651628T>A | CA2575680583 | KNL1 | c.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 |
15 | g.40651629_40651633delinsAAACC | CA2171877535 | KNL1 | c.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) | |
15 | g.40651630_40651633del | CA2171877536 | KNL1 | c.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 |
15 | g.40651631A>G | CA2627840491 | KNL1 | c.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 |
15 | g.40651632C>A | CA2627840492 | KNL1 | c.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 |
15 | g.40651632C>T | CA2627840493 | KNL1 | c.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 |
15 | g.40651633C>A | CA2627840494 | KNL1 | c.6314+61C>A (n.6314+61C>A) c.6392+61C>A (n.6392+61C>A) c.3447+61C>A n.394+61C>A c.5990+61C>A (n.5990+61C>A) | gnomAD v4 |
15 | g.40651633C= | CA2171877537 | KNL1 | c.6314+61C= (n.6314+61C=) c.6392+61C= (n.6392+61C=) c.3447+61C= n.394+61C= c.5990+61C= (n.5990+61C=) | |
15 | g.40651633C>T | CA268840217 | KNL1 | c.6314+61C>T (n.6314+61C>T) c.6392+61C>T (n.6392+61C>T) c.3447+61C>T n.394+61C>T c.5990+61C>T (n.5990+61C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40651634G>A | CA2171877539 | KNL1 | c.6314+62G>A (n.6314+62G>A) c.6392+62G>A (n.6392+62G>A) c.3447+62G>A n.394+62G>A c.5990+62G>A (n.5990+62G>A) | dbSNP gnomAD v4 |
15 | g.40651634G>C | CA268840220 | KNL1 | c.6314+62G>C (n.6314+62G>C) c.6392+62G>C (n.6392+62G>C) c.3447+62G>C n.394+62G>C c.5990+62G>C (n.5990+62G>C) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.40651634G= | CA2171877538 | KNL1 | c.6314+62G= (n.6314+62G=) c.6392+62G= (n.6392+62G=) c.3447+62G= n.394+62G= c.5990+62G= (n.5990+62G=) | |
15 | g.40651634G>T | CA617247309 | KNL1 | c.6314+62G>T (n.6314+62G>T) c.6392+62G>T (n.6392+62G>T) c.3447+62G>T n.394+62G>T c.5990+62G>T (n.5990+62G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.40651635A>T | CA2627840500 | KNL1 | c.6314+63A>T (n.6314+63A>T) c.6392+63A>T (n.6392+63A>T) c.3447+63A>T n.394+63A>T c.5990+63A>T (n.5990+63A>T) | gnomAD v4 |
15 | g.40651636T>C | CA712763543 | KNL1 | c.6314+64T>C (n.6314+64T>C) c.6392+64T>C (n.6392+64T>C) c.3447+64T>C n.394+64T>C c.5990+64T>C (n.5990+64T>C) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.40651636T= | CA2171877540 | KNL1 | c.6314+64T= (n.6314+64T=) c.6392+64T= (n.6392+64T=) c.3447+64T= n.394+64T= c.5990+64T= (n.5990+64T=) | |
15 | g.40651637T>C | CA268840223 | KNL1 | c.6314+65T>C (n.6314+65T>C) c.6392+65T>C (n.6392+65T>C) c.3447+65T>C n.394+65T>C c.5990+65T>C (n.5990+65T>C) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.40651637T= | CA2171877541 | KNL1 | c.6314+65T= (n.6314+65T=) c.6392+65T= (n.6392+65T=) c.3447+65T= n.394+65T= c.5990+65T= (n.5990+65T=) | |
15 | g.40651638G>T | CA2627840502 | KNL1 | c.6314+66G>T (n.6314+66G>T) c.6392+66G>T (n.6392+66G>T) c.3447+66G>T n.394+66G>T c.5990+66G>T (n.5990+66G>T) | gnomAD v4 |
15 | g.40651639G>A | CA2575680584 | KNL1 | c.6314+67G>A (n.6314+67G>A) c.6392+67G>A (n.6392+67G>A) c.3447+67G>A n.394+67G>A c.5990+67G>A (n.5990+67G>A) | |
15 | g.40651639G>C | CA2627840503 | KNL1 | c.6314+67G>C (n.6314+67G>C) c.6392+67G>C (n.6392+67G>C) c.3447+67G>C n.394+67G>C c.5990+67G>C (n.5990+67G>C) | gnomAD v4 |
15 | g.40651639G>T | CA2575680585 | KNL1 | c.6314+67G>T (n.6314+67G>T) c.6392+67G>T (n.6392+67G>T) c.3447+67G>T n.394+67G>T c.5990+67G>T (n.5990+67G>T) | gnomAD v4 |
15 | g.40651640A>G | CA2627840504 | KNL1 | c.6314+68A>G (n.6314+68A>G) c.6392+68A>G (n.6392+68A>G) c.3447+68A>G n.394+68A>G c.5990+68A>G (n.5990+68A>G) | gnomAD v4 |