| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.137639874C>A | CA129306 | KLHL3 | c.1007G>T (p.Arg336Ile) n.594G>T c.*335-11437G>T (n.*335-11437G>T) c.887G>T (p.Arg296Ile) c.761G>T (p.Arg254Ile) n.632G>T c.911G>T (p.Arg304Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.137639874C= | CA1585498407 | KLHL3 | c.1007G= (p.Arg336=) n.594G= c.*335-11437G= (n.*335-11437G=) c.887G= (p.Arg296=) c.761G= (p.Arg254=) n.632G= c.911G= (p.Arg304=) | |
| 5 | g.137639874C>G | CA361048647 | KLHL3 | c.1007G>C (p.Arg336Thr) n.594G>C c.*335-11437G>C (n.*335-11437G>C) c.887G>C (p.Arg296Thr) c.761G>C (p.Arg254Thr) n.632G>C c.911G>C (p.Arg304Thr) | |
| 5 | g.137639874C>T | CA361048649 | KLHL3 | c.1007G>A (p.Arg336Lys) n.594G>A c.*335-11437G>A (n.*335-11437G>A) c.887G>A (p.Arg296Lys) c.761G>A (p.Arg254Lys) n.632G>A c.911G>A (p.Arg304Lys) | |
| 5 | g.137639875T>A | CA361048650 | KLHL3 | c.1006A>T (p.Arg336Ter) n.593A>T c.*335-11438A>T (n.*335-11438A>T) c.886A>T (p.Arg296Ter) c.760A>T (p.Arg254Ter) n.631A>T c.910A>T (p.Arg304Ter) | |
| 5 | g.137639875T>C | CA361048652 | KLHL3 | c.1006A>G (p.Arg336Gly) n.593A>G c.*335-11438A>G (n.*335-11438A>G) c.886A>G (p.Arg296Gly) c.760A>G (p.Arg254Gly) n.631A>G c.910A>G (p.Arg304Gly) | |
| 5 | g.137639875T>G | CA446561494 | KLHL3 | c.1006A>C (p.Arg336=) n.593A>C c.*335-11438A>C (n.*335-11438A>C) c.886A>C (p.Arg296=) c.760A>C (p.Arg254=) n.631A>C c.910A>C (p.Arg304=) | |
| 5 | g.137639876G>A | CA3422323 | KLHL3 | c.1005C>T (p.Ser335=) n.592C>T c.*335-11439C>T (n.*335-11439C>T) c.885C>T (p.Ser295=) c.759C>T (p.Ser253=) n.630C>T c.909C>T (p.Ser303=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.137639876G>C | CA446561497 | KLHL3 | c.1005C>G (p.Ser335=) n.592C>G c.*335-11439C>G (n.*335-11439C>G) c.885C>G (p.Ser295=) c.759C>G (p.Ser253=) n.630C>G c.909C>G (p.Ser303=) | |
| 5 | g.137639876G= | CA1585498412 | KLHL3 | c.1005C= (p.Ser335=) n.592C= c.*335-11439C= (n.*335-11439C=) c.885C= (p.Ser295=) c.759C= (p.Ser253=) n.630C= c.909C= (p.Ser303=) | |
| 5 | g.137639876G>T | CA446561498 | KLHL3 | c.1005C>A (p.Ser335=) n.592C>A c.*335-11439C>A (n.*335-11439C>A) c.885C>A (p.Ser295=) c.759C>A (p.Ser253=) n.630C>A c.909C>A (p.Ser303=) | |
| 5 | g.137639877G>A | CA361048659 | KLHL3 | c.1004C>T (p.Ser335Phe) n.591C>T c.*335-11440C>T (n.*335-11440C>T) c.884C>T (p.Ser295Phe) c.758C>T (p.Ser253Phe) n.629C>T c.908C>T (p.Ser303Phe) | |
| 5 | g.137639877G>C | CA361048657 | KLHL3 | c.1004C>G (p.Ser335Cys) n.591C>G c.*335-11440C>G (n.*335-11440C>G) c.884C>G (p.Ser295Cys) c.758C>G (p.Ser253Cys) n.629C>G c.908C>G (p.Ser303Cys) | |
| 5 | g.137639877G>T | CA361048655 | KLHL3 | c.1004C>A (p.Ser335Tyr) n.591C>A c.*335-11440C>A (n.*335-11440C>A) c.884C>A (p.Ser295Tyr) c.758C>A (p.Ser253Tyr) n.629C>A c.908C>A (p.Ser303Tyr) | |
| 5 | g.137639878A>C | CA361048662 | KLHL3 | c.1003T>G (p.Ser335Ala) n.590T>G c.*335-11441T>G (n.*335-11441T>G) c.883T>G (p.Ser295Ala) c.757T>G (p.Ser253Ala) n.628T>G c.907T>G (p.Ser303Ala) | |
| 5 | g.137639878A>G | CA361048666 | KLHL3 | c.1003T>C (p.Ser335Pro) n.590T>C c.*335-11441T>C (n.*335-11441T>C) c.883T>C (p.Ser295Pro) c.757T>C (p.Ser253Pro) n.628T>C c.907T>C (p.Ser303Pro) | gnomAD v4 |
| 5 | g.137639878A>T | CA361048664 | KLHL3 | c.1003T>A (p.Ser335Thr) n.590T>A c.*335-11441T>A (n.*335-11441T>A) c.883T>A (p.Ser295Thr) c.757T>A (p.Ser253Thr) n.628T>A c.907T>A (p.Ser303Thr) | |
| 5 | g.137639879A>C | CA446561500 | KLHL3 | c.1002T>G (p.Pro334=) n.589T>G c.*335-11442T>G (n.*335-11442T>G) c.882T>G (p.Pro294=) c.756T>G (p.Pro252=) n.627T>G c.906T>G (p.Pro302=) | |
| 5 | g.137639879A>G | CA446561501 | KLHL3 | c.1002T>C (p.Pro334=) n.589T>C c.*335-11442T>C (n.*335-11442T>C) c.882T>C (p.Pro294=) c.756T>C (p.Pro252=) n.627T>C c.906T>C (p.Pro302=) | |
| 5 | g.137639879A>T | CA446561503 | KLHL3 | c.1002T>A (p.Pro334=) n.589T>A c.*335-11442T>A (n.*335-11442T>A) c.882T>A (p.Pro294=) c.756T>A (p.Pro252=) n.627T>A c.906T>A (p.Pro302=) | |
| 5 | g.137639880G>A | CA361048668 | KLHL3 | c.1001C>T (p.Pro334Leu) n.588C>T c.*335-11443C>T (n.*335-11443C>T) c.881C>T (p.Pro294Leu) c.755C>T (p.Pro252Leu) n.626C>T c.905C>T (p.Pro302Leu) | COSMIC |
| 5 | g.137639880G>C | CA361048670 | KLHL3 | c.1001C>G (p.Pro334Arg) n.588C>G c.*335-11443C>G (n.*335-11443C>G) c.881C>G (p.Pro294Arg) c.755C>G (p.Pro252Arg) n.626C>G c.905C>G (p.Pro302Arg) | |
| 5 | g.137639880G= | CA1585498417 | KLHL3 | c.1001C= (p.Pro334=) n.588C= c.*335-11443C= (n.*335-11443C=) c.881C= (p.Pro294=) c.755C= (p.Pro252=) n.626C= c.905C= (p.Pro302=) | |
| 5 | g.137639880G>T | CA128104500 | KLHL3 | c.1001C>A (p.Pro334His) n.588C>A c.*335-11443C>A (n.*335-11443C>A) c.881C>A (p.Pro294His) c.755C>A (p.Pro252His) n.626C>A c.905C>A (p.Pro302His) | dbSNP |
| 5 | g.137639881G>A | CA361048672 | KLHL3 | c.1000C>T (p.Pro334Ser) n.587C>T c.*335-11444C>T (n.*335-11444C>T) c.880C>T (p.Pro294Ser) c.754C>T (p.Pro252Ser) n.625C>T c.904C>T (p.Pro302Ser) | ClinVar dbSNP COSMIC |
| 5 | g.137639881G>C | CA361048673 | KLHL3 | c.1000C>G (p.Pro334Ala) n.587C>G c.*335-11444C>G (n.*335-11444C>G) c.880C>G (p.Pro294Ala) c.754C>G (p.Pro252Ala) n.625C>G c.904C>G (p.Pro302Ala) | |
| 5 | g.137639881G>T | CA361048675 | KLHL3 | c.1000C>A (p.Pro334Thr) n.587C>A c.*335-11444C>A (n.*335-11444C>A) c.880C>A (p.Pro294Thr) c.754C>A (p.Pro252Thr) n.625C>A c.904C>A (p.Pro302Thr) | |
| 5 | g.137639882A= | CA1585498421 | KLHL3 | c.999T= (p.Leu333=) n.586T= c.*335-11445T= (n.*335-11445T=) c.879T= (p.Leu293=) c.753T= (p.Leu251=) n.624T= c.903T= (p.Leu301=) | |
| 5 | g.137639882A>C | CA446561508 | KLHL3 | c.999T>G (p.Leu333=) n.586T>G c.*335-11445T>G (n.*335-11445T>G) c.879T>G (p.Leu293=) c.753T>G (p.Leu251=) n.624T>G c.903T>G (p.Leu301=) | |
| 5 | g.137639882A>G | CA3422324 | KLHL3 | c.999T>C (p.Leu333=) n.586T>C c.*335-11445T>C (n.*335-11445T>C) c.879T>C (p.Leu293=) c.753T>C (p.Leu251=) n.624T>C c.903T>C (p.Leu301=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.137639882A>T | CA446561509 | KLHL3 | c.999T>A (p.Leu333=) n.586T>A c.*335-11445T>A (n.*335-11445T>A) c.879T>A (p.Leu293=) c.753T>A (p.Leu251=) n.624T>A c.903T>A (p.Leu301=) | gnomAD v4 |
| 5 | g.137639883A>C | CA361048678 | KLHL3 | c.998T>G (p.Leu333Arg) n.585T>G c.*335-11446T>G (n.*335-11446T>G) c.878T>G (p.Leu293Arg) c.752T>G (p.Leu251Arg) n.623T>G c.902T>G (p.Leu301Arg) | |
| 5 | g.137639883A>G | CA361048680 | KLHL3 | c.998T>C (p.Leu333Pro) n.585T>C c.*335-11446T>C (n.*335-11446T>C) c.878T>C (p.Leu293Pro) c.752T>C (p.Leu251Pro) n.623T>C c.902T>C (p.Leu301Pro) | |
| 5 | g.137639883A>T | CA361048682 | KLHL3 | c.998T>A (p.Leu333His) n.585T>A c.*335-11446T>A (n.*335-11446T>A) c.878T>A (p.Leu293His) c.752T>A (p.Leu251His) n.623T>A c.902T>A (p.Leu301His) | |
| 5 | g.137639884G>A | CA361048683 | KLHL3 | c.997C>T (p.Leu333Phe) n.584C>T c.*335-11447C>T (n.*335-11447C>T) c.877C>T (p.Leu293Phe) c.751C>T (p.Leu251Phe) n.622C>T c.901C>T (p.Leu301Phe) | |
| 5 | g.137639884G>C | CA361048685 | KLHL3 | c.997C>G (p.Leu333Val) n.584C>G c.*335-11447C>G (n.*335-11447C>G) c.877C>G (p.Leu293Val) c.751C>G (p.Leu251Val) n.622C>G c.901C>G (p.Leu301Val) | |
| 5 | g.137639884G>T | CA361048687 | KLHL3 | c.997C>A (p.Leu333Ile) n.584C>A c.*335-11447C>A (n.*335-11447C>A) c.877C>A (p.Leu293Ile) c.751C>A (p.Leu251Ile) n.622C>A c.901C>A (p.Leu301Ile) | |
| 5 | g.137639885C>A | CA361048689 | KLHL3 | c.996G>T (p.Glu332Asp) n.583G>T c.*335-11448G>T (n.*335-11448G>T) c.876G>T (p.Glu292Asp) c.750G>T (p.Glu250Asp) n.621G>T c.900G>T (p.Glu300Asp) | |
| 5 | g.137639885C>G | CA361048691 | KLHL3 | c.996G>C (p.Glu332Asp) n.583G>C c.*335-11448G>C (n.*335-11448G>C) c.876G>C (p.Glu292Asp) c.750G>C (p.Glu250Asp) n.621G>C c.900G>C (p.Glu300Asp) | |
| 5 | g.137639885C>T | CA446561510 | KLHL3 | c.996G>A (p.Glu332=) n.583G>A c.*335-11448G>A (n.*335-11448G>A) c.876G>A (p.Glu292=) c.750G>A (p.Glu250=) n.621G>A c.900G>A (p.Glu300=) | gnomAD v4 |
| 5 | g.137639886T>A | CA361048693 | KLHL3 | c.995A>T (p.Glu332Val) n.582A>T c.*335-11449A>T (n.*335-11449A>T) c.875A>T (p.Glu292Val) c.749A>T (p.Glu250Val) n.620A>T c.899A>T (p.Glu300Val) | |
| 5 | g.137639886T>C | CA361048696 | KLHL3 | c.995A>G (p.Glu332Gly) n.582A>G c.*335-11449A>G (n.*335-11449A>G) c.875A>G (p.Glu292Gly) c.749A>G (p.Glu250Gly) n.620A>G c.899A>G (p.Glu300Gly) | |
| 5 | g.137639886T>G | CA361048698 | KLHL3 | c.995A>C (p.Glu332Ala) n.582A>C c.*335-11449A>C (n.*335-11449A>C) c.875A>C (p.Glu292Ala) c.749A>C (p.Glu250Ala) n.620A>C c.899A>C (p.Glu300Ala) | |
| 5 | g.137639887C>A | CA361048699 | KLHL3 | c.994G>T (p.Glu332Ter) n.581G>T c.*335-11450G>T (n.*335-11450G>T) c.874G>T (p.Glu292Ter) c.748G>T (p.Glu250Ter) n.619G>T c.898G>T (p.Glu300Ter) | |
| 5 | g.137639887C>G | CA361048701 | KLHL3 | c.994G>C (p.Glu332Gln) n.581G>C c.*335-11450G>C (n.*335-11450G>C) c.874G>C (p.Glu292Gln) c.748G>C (p.Glu250Gln) n.619G>C c.898G>C (p.Glu300Gln) | |
| 5 | g.137639887C>T | CA361048703 | KLHL3 | c.994G>A (p.Glu332Lys) n.581G>A c.*335-11450G>A (n.*335-11450G>A) c.874G>A (p.Glu292Lys) c.748G>A (p.Glu250Lys) n.619G>A c.898G>A (p.Glu300Lys) | |
| 5 | g.137639888A>C | CA446561514 | KLHL3 | c.993T>G (p.Ala331=) n.580T>G c.*335-11451T>G (n.*335-11451T>G) c.873T>G (p.Ala291=) c.747T>G (p.Ala249=) n.618T>G c.897T>G (p.Ala299=) | gnomAD v4 |
| 5 | g.137639888A>G | CA446561515 | KLHL3 | c.993T>C (p.Ala331=) n.580T>C c.*335-11451T>C (n.*335-11451T>C) c.873T>C (p.Ala291=) c.747T>C (p.Ala249=) n.618T>C c.897T>C (p.Ala299=) | |
| 5 | g.137639888A>T | CA446561516 | KLHL3 | c.993T>A (p.Ala331=) n.580T>A c.*335-11451T>A (n.*335-11451T>A) c.873T>A (p.Ala291=) c.747T>A (p.Ala249=) n.618T>A c.897T>A (p.Ala299=) | |
| 5 | g.137639889G>A | CA361048705 | KLHL3 | c.992C>T (p.Ala331Val) n.579C>T c.*335-11452C>T (n.*335-11452C>T) c.872C>T (p.Ala291Val) c.746C>T (p.Ala249Val) n.617C>T c.896C>T (p.Ala299Val) |