Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.37064751_37064758delinsACTGGTGC | CA1539590519 | CPLANE1,NIPBL | c.8274_8281delinsACTGGTGC (p.Lys2758=) c.*218_*225delinsACTGGTGC (n.*218_*225delinsACTGGTGC) n.2197_2204delinsACTGGTGC c.174_181delinsACTGGTGC (p.Lys58=) c.*728_*735delinsACTGGTGC (n.*728_*735delinsACTGGTGC) c.7530_7537delinsACTGGTGC (p.Lys2510=) c.8127_8134delinsACTGGTGC (p.Lys2709=) c.8076_8083delinsACTGGTGC (p.Lys2692=) c.7893_7900delinsACTGGTGC (p.Lys2631=) c.7614_7621delinsACTGGTGC (p.Lys2538=) c.6657_6664delinsACTGGTGC (p.Lys2219=) c.6648_6655delinsACTGGTGC (p.Lys2216=) n.11924_11931delinsGCACCAGT | |
5 | g.37064754_37064760del | CA272325 | CPLANE1,NIPBL | c.8277_8283del (p.Val2760GlyfsTer2) c.*221_*227del (n.*221_*227del) n.2200_2206del c.177_183del (p.Val60GlyfsTer2) c.*731_*737del (n.*731_*737del) c.7533_7539del (p.Val2512GlyfsTer2) c.8130_8136del (p.Val2711GlyfsTer2) c.8079_8085del (p.Val2694GlyfsTer2) c.7896_7902del (p.Val2633GlyfsTer2) c.7617_7623del (p.Val2540GlyfsTer2) c.6660_6666del (p.Val2221GlyfsTer2) c.6651_6657del (p.Val2218GlyfsTer2) n.11924_11930del | ClinVar dbSNP |
5 | g.37064754G>A | CA444096558 | CPLANE1,NIPBL | c.8277G>A (p.Leu2759=) c.*221G>A (n.*221G>A) n.2200G>A c.177G>A (p.Leu59=) c.*731G>A (n.*731G>A) c.7533G>A (p.Leu2511=) c.8130G>A (p.Leu2710=) c.8079G>A (p.Leu2693=) c.7896G>A (p.Leu2632=) c.7617G>A (p.Leu2539=) c.6660G>A (p.Leu2220=) c.6651G>A (p.Leu2217=) n.11928C>T | |
5 | g.37064754G>C | CA444096559 | CPLANE1,NIPBL | c.8277G>C (p.Leu2759=) c.*221G>C (n.*221G>C) n.2200G>C c.177G>C (p.Leu59=) c.*731G>C (n.*731G>C) c.7533G>C (p.Leu2511=) c.8130G>C (p.Leu2710=) c.8079G>C (p.Leu2693=) c.7896G>C (p.Leu2632=) c.7617G>C (p.Leu2539=) c.6660G>C (p.Leu2220=) c.6651G>C (p.Leu2217=) n.11928C>G | |
5 | g.37064754G>T | CA444096560 | CPLANE1,NIPBL | c.8277G>T (p.Leu2759=) c.*221G>T (n.*221G>T) n.2200G>T c.177G>T (p.Leu59=) c.*731G>T (n.*731G>T) c.7533G>T (p.Leu2511=) c.8130G>T (p.Leu2710=) c.8079G>T (p.Leu2693=) c.7896G>T (p.Leu2632=) c.7617G>T (p.Leu2539=) c.6660G>T (p.Leu2220=) c.6651G>T (p.Leu2217=) n.11928C>A | |
5 | g.37064755G>A | CA359522874 | CPLANE1,NIPBL | c.8278G>A (p.Val2760Met) c.*222G>A (n.*222G>A) n.2201G>A c.178G>A (p.Val60Met) c.*732G>A (n.*732G>A) c.7534G>A (p.Val2512Met) c.8131G>A (p.Val2711Met) c.8080G>A (p.Val2694Met) c.7897G>A (p.Val2633Met) c.7618G>A (p.Val2540Met) c.6661G>A (p.Val2221Met) c.6652G>A (p.Val2218Met) n.11927C>T | |
5 | g.37064755G>C | CA359522870 | CPLANE1,NIPBL | c.8278G>C (p.Val2760Leu) c.*222G>C (n.*222G>C) n.2201G>C c.178G>C (p.Val60Leu) c.*732G>C (n.*732G>C) c.7534G>C (p.Val2512Leu) c.8131G>C (p.Val2711Leu) c.8080G>C (p.Val2694Leu) c.7897G>C (p.Val2633Leu) c.7618G>C (p.Val2540Leu) c.6661G>C (p.Val2221Leu) c.6652G>C (p.Val2218Leu) n.11927C>G | |
5 | g.37064755G>T | CA359522872 | CPLANE1,NIPBL | c.8278G>T (p.Val2760Leu) c.*222G>T (n.*222G>T) n.2201G>T c.178G>T (p.Val60Leu) c.*732G>T (n.*732G>T) c.7534G>T (p.Val2512Leu) c.8131G>T (p.Val2711Leu) c.8080G>T (p.Val2694Leu) c.7897G>T (p.Val2633Leu) c.7618G>T (p.Val2540Leu) c.6661G>T (p.Val2221Leu) c.6652G>T (p.Val2218Leu) n.11927C>A | |
5 | g.37064756T>A | CA359522875 | CPLANE1,NIPBL | c.8279T>A (p.Val2760Glu) c.*223T>A (n.*223T>A) n.2202T>A c.179T>A (p.Val60Glu) c.*733T>A (n.*733T>A) c.7535T>A (p.Val2512Glu) c.8132T>A (p.Val2711Glu) c.8081T>A (p.Val2694Glu) c.7898T>A (p.Val2633Glu) c.7619T>A (p.Val2540Glu) c.6662T>A (p.Val2221Glu) c.6653T>A (p.Val2218Glu) n.11926A>T | |
5 | g.37064756T>C | CA359522880 | CPLANE1,NIPBL | c.8279T>C (p.Val2760Ala) c.*223T>C (n.*223T>C) n.2202T>C c.179T>C (p.Val60Ala) c.*733T>C (n.*733T>C) c.7535T>C (p.Val2512Ala) c.8132T>C (p.Val2711Ala) c.8081T>C (p.Val2694Ala) c.7898T>C (p.Val2633Ala) c.7619T>C (p.Val2540Ala) c.6662T>C (p.Val2221Ala) c.6653T>C (p.Val2218Ala) n.11926A>G | |
5 | g.37064756T>G | CA359522883 | CPLANE1,NIPBL | c.8279T>G (p.Val2760Gly) c.*223T>G (n.*223T>G) n.2202T>G c.179T>G (p.Val60Gly) c.*733T>G (n.*733T>G) c.7535T>G (p.Val2512Gly) c.8132T>G (p.Val2711Gly) c.8081T>G (p.Val2694Gly) c.7898T>G (p.Val2633Gly) c.7619T>G (p.Val2540Gly) c.6662T>G (p.Val2221Gly) c.6653T>G (p.Val2218Gly) n.11926A>C | |
5 | g.37064757G>A | CA3237350 | CPLANE1,NIPBL | c.8280G>A (p.Val2760=) c.*224G>A (n.*224G>A) n.2203G>A c.180G>A (p.Val60=) c.*734G>A (n.*734G>A) c.7536G>A (p.Val2512=) c.8133G>A (p.Val2711=) c.8082G>A (p.Val2694=) c.7899G>A (p.Val2633=) c.7620G>A (p.Val2540=) c.6663G>A (p.Val2221=) c.6654G>A (p.Val2218=) n.11925C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37064757G>C | CA444096561 | CPLANE1,NIPBL | c.8280G>C (p.Val2760=) c.*224G>C (n.*224G>C) n.2203G>C c.180G>C (p.Val60=) c.*734G>C (n.*734G>C) c.7536G>C (p.Val2512=) c.8133G>C (p.Val2711=) c.8082G>C (p.Val2694=) c.7899G>C (p.Val2633=) c.7620G>C (p.Val2540=) c.6663G>C (p.Val2221=) c.6654G>C (p.Val2218=) n.11925C>G | |
5 | g.37064757G= | CA1539590539 | CPLANE1,NIPBL | c.8280G= (p.Val2760=) c.*224G= (n.*224G=) n.2203G= c.180G= (p.Val60=) c.*734G= (n.*734G=) c.7536G= (p.Val2512=) c.8133G= (p.Val2711=) c.8082G= (p.Val2694=) c.7899G= (p.Val2633=) c.7620G= (p.Val2540=) c.6663G= (p.Val2221=) c.6654G= (p.Val2218=) n.11925C= | |
5 | g.37064757G>T | CA444096562 | CPLANE1,NIPBL | c.8280G>T (p.Val2760=) c.*224G>T (n.*224G>T) n.2203G>T c.180G>T (p.Val60=) c.*734G>T (n.*734G>T) c.7536G>T (p.Val2512=) c.8133G>T (p.Val2711=) c.8082G>T (p.Val2694=) c.7899G>T (p.Val2633=) c.7620G>T (p.Val2540=) c.6663G>T (p.Val2221=) c.6654G>T (p.Val2218=) n.11925C>A | |
5 | g.37064758C>A | CA359522887 | CPLANE1,NIPBL | c.8281C>A (p.Pro2761Thr) c.*225C>A (n.*225C>A) n.2204C>A c.181C>A (p.Pro61Thr) c.*735C>A (n.*735C>A) c.7537C>A (p.Pro2513Thr) c.8134C>A (p.Pro2712Thr) c.8083C>A (p.Pro2695Thr) c.7900C>A (p.Pro2634Thr) c.7621C>A (p.Pro2541Thr) c.6664C>A (p.Pro2222Thr) c.6655C>A (p.Pro2219Thr) n.11924G>T | |
5 | g.37064758C>G | CA359522890 | CPLANE1,NIPBL | c.8281C>G (p.Pro2761Ala) c.*225C>G (n.*225C>G) n.2204C>G c.181C>G (p.Pro61Ala) c.*735C>G (n.*735C>G) c.7537C>G (p.Pro2513Ala) c.8134C>G (p.Pro2712Ala) c.8083C>G (p.Pro2695Ala) c.7900C>G (p.Pro2634Ala) c.7621C>G (p.Pro2541Ala) c.6664C>G (p.Pro2222Ala) c.6655C>G (p.Pro2219Ala) n.11924G>C | |
5 | g.37064758C>T | CA359522892 | CPLANE1,NIPBL | c.8281C>T (p.Pro2761Ser) c.*225C>T (n.*225C>T) n.2204C>T c.181C>T (p.Pro61Ser) c.*735C>T (n.*735C>T) c.7537C>T (p.Pro2513Ser) c.8134C>T (p.Pro2712Ser) c.8083C>T (p.Pro2695Ser) c.7900C>T (p.Pro2634Ser) c.7621C>T (p.Pro2541Ser) c.6664C>T (p.Pro2222Ser) c.6655C>T (p.Pro2219Ser) n.11924G>A | gnomAD v4 |
5 | g.37064759C>A | CA359522894 | CPLANE1,NIPBL | c.8282C>A (p.Pro2761His) c.*226C>A (n.*226C>A) n.2205C>A c.182C>A (p.Pro61His) c.*736C>A (n.*736C>A) c.7538C>A (p.Pro2513His) c.8135C>A (p.Pro2712His) c.8084C>A (p.Pro2695His) c.7901C>A (p.Pro2634His) c.7622C>A (p.Pro2541His) c.6665C>A (p.Pro2222His) c.6656C>A (p.Pro2219His) n.11923G>T | |
5 | g.37064759C>G | CA359522898 | CPLANE1,NIPBL | c.8282C>G (p.Pro2761Arg) c.*226C>G (n.*226C>G) n.2205C>G c.182C>G (p.Pro61Arg) c.*736C>G (n.*736C>G) c.7538C>G (p.Pro2513Arg) c.8135C>G (p.Pro2712Arg) c.8084C>G (p.Pro2695Arg) c.7901C>G (p.Pro2634Arg) c.7622C>G (p.Pro2541Arg) c.6665C>G (p.Pro2222Arg) c.6656C>G (p.Pro2219Arg) n.11923G>C | |
5 | g.37064759C>T | CA359522901 | CPLANE1,NIPBL | c.8282C>T (p.Pro2761Leu) c.*226C>T (n.*226C>T) n.2205C>T c.182C>T (p.Pro61Leu) c.*736C>T (n.*736C>T) c.7538C>T (p.Pro2513Leu) c.8135C>T (p.Pro2712Leu) c.8084C>T (p.Pro2695Leu) c.7901C>T (p.Pro2634Leu) c.7622C>T (p.Pro2541Leu) c.6665C>T (p.Pro2222Leu) c.6656C>T (p.Pro2219Leu) n.11923G>A | |
5 | g.37064760T>A | CA444096563 | CPLANE1,NIPBL | c.8283T>A (p.Pro2761=) c.*227T>A (n.*227T>A) n.2206T>A c.183T>A (p.Pro61=) c.*737T>A (n.*737T>A) c.7539T>A (p.Pro2513=) c.8136T>A (p.Pro2712=) c.8085T>A (p.Pro2695=) c.7902T>A (p.Pro2634=) c.7623T>A (p.Pro2541=) c.6666T>A (p.Pro2222=) c.6657T>A (p.Pro2219=) n.11922A>T | |
5 | g.37064760T>C | CA444096564 | CPLANE1,NIPBL | c.8283T>C (p.Pro2761=) c.*227T>C (n.*227T>C) n.2206T>C c.183T>C (p.Pro61=) c.*737T>C (n.*737T>C) c.7539T>C (p.Pro2513=) c.8136T>C (p.Pro2712=) c.8085T>C (p.Pro2695=) c.7902T>C (p.Pro2634=) c.7623T>C (p.Pro2541=) c.6666T>C (p.Pro2222=) c.6657T>C (p.Pro2219=) n.11922A>G | ClinVar |
5 | g.37064760T>G | CA444096565 | CPLANE1,NIPBL | c.8283T>G (p.Pro2761=) c.*227T>G (n.*227T>G) n.2206T>G c.183T>G (p.Pro61=) c.*737T>G (n.*737T>G) c.7539T>G (p.Pro2513=) c.8136T>G (p.Pro2712=) c.8085T>G (p.Pro2695=) c.7902T>G (p.Pro2634=) c.7623T>G (p.Pro2541=) c.6666T>G (p.Pro2222=) c.6657T>G (p.Pro2219=) n.11922A>C | |
5 | g.37064761T>A | CA359522909 | CPLANE1,NIPBL | c.8284T>A (p.Trp2762Arg) c.*228T>A (n.*228T>A) n.2207T>A c.184T>A (p.Trp62Arg) c.*738T>A (n.*738T>A) c.7540T>A (p.Trp2514Arg) c.8137T>A (p.Trp2713Arg) c.8086T>A (p.Trp2696Arg) c.7903T>A (p.Trp2635Arg) c.7624T>A (p.Trp2542Arg) c.6667T>A (p.Trp2223Arg) c.6658T>A (p.Trp2220Arg) n.11921A>T | |
5 | g.37064761T>C | CA359522906 | CPLANE1,NIPBL | c.8284T>C (p.Trp2762Arg) c.*228T>C (n.*228T>C) n.2207T>C c.184T>C (p.Trp62Arg) c.*738T>C (n.*738T>C) c.7540T>C (p.Trp2514Arg) c.8137T>C (p.Trp2713Arg) c.8086T>C (p.Trp2696Arg) c.7903T>C (p.Trp2635Arg) c.7624T>C (p.Trp2542Arg) c.6667T>C (p.Trp2223Arg) c.6658T>C (p.Trp2220Arg) n.11921A>G | |
5 | g.37064761T>G | CA359522904 | CPLANE1,NIPBL | c.8284T>G (p.Trp2762Gly) c.*228T>G (n.*228T>G) n.2207T>G c.184T>G (p.Trp62Gly) c.*738T>G (n.*738T>G) c.7540T>G (p.Trp2514Gly) c.8137T>G (p.Trp2713Gly) c.8086T>G (p.Trp2696Gly) c.7903T>G (p.Trp2635Gly) c.7624T>G (p.Trp2542Gly) c.6667T>G (p.Trp2223Gly) c.6658T>G (p.Trp2220Gly) n.11921A>C | |
5 | g.37064762G>A | CA359522911 | CPLANE1,NIPBL | c.8285G>A (p.Trp2762Ter) c.*229G>A (n.*229G>A) n.2208G>A c.185G>A (p.Trp62Ter) c.*739G>A (n.*739G>A) c.7541G>A (p.Trp2514Ter) c.8138G>A (p.Trp2713Ter) c.8087G>A (p.Trp2696Ter) c.7904G>A (p.Trp2635Ter) c.7625G>A (p.Trp2542Ter) c.6668G>A (p.Trp2223Ter) c.6659G>A (p.Trp2220Ter) n.11920C>T | |
5 | g.37064762G>C | CA359522914 | CPLANE1,NIPBL | c.8285G>C (p.Trp2762Ser) c.*229G>C (n.*229G>C) n.2208G>C c.185G>C (p.Trp62Ser) c.*739G>C (n.*739G>C) c.7541G>C (p.Trp2514Ser) c.8138G>C (p.Trp2713Ser) c.8087G>C (p.Trp2696Ser) c.7904G>C (p.Trp2635Ser) c.7625G>C (p.Trp2542Ser) c.6668G>C (p.Trp2223Ser) c.6659G>C (p.Trp2220Ser) n.11920C>G | |
5 | g.37064762G>T | CA359522917 | CPLANE1,NIPBL | c.8285G>T (p.Trp2762Leu) c.*229G>T (n.*229G>T) n.2208G>T c.185G>T (p.Trp62Leu) c.*739G>T (n.*739G>T) c.7541G>T (p.Trp2514Leu) c.8138G>T (p.Trp2713Leu) c.8087G>T (p.Trp2696Leu) c.7904G>T (p.Trp2635Leu) c.7625G>T (p.Trp2542Leu) c.6668G>T (p.Trp2223Leu) c.6659G>T (p.Trp2220Leu) n.11920C>A | |
5 | g.37064764dup | CA2695204373 | CPLANE1,NIPBL | c.8287dup (p.Val2763GlyfsTer5) c.*231dup (n.*231dup) n.2210dup c.187dup (p.Val63GlyfsTer5) c.*741dup (n.*741dup) c.7543dup (p.Val2515GlyfsTer5) c.8140dup (p.Val2714GlyfsTer5) c.8089dup (p.Val2697GlyfsTer5) c.7906dup (p.Val2636GlyfsTer5) c.7627dup (p.Val2543GlyfsTer5) c.6670dup (p.Val2224GlyfsTer5) c.6661dup (p.Val2221GlyfsTer5) n.11920dup | |
5 | g.37064763G>A | CA359522920 | CPLANE1,NIPBL | c.8286G>A (p.Trp2762Ter) c.*230G>A (n.*230G>A) n.2209G>A c.186G>A (p.Trp62Ter) c.*740G>A (n.*740G>A) c.7542G>A (p.Trp2514Ter) c.8139G>A (p.Trp2713Ter) c.8088G>A (p.Trp2696Ter) c.7905G>A (p.Trp2635Ter) c.7626G>A (p.Trp2542Ter) c.6669G>A (p.Trp2223Ter) c.6660G>A (p.Trp2220Ter) n.11919C>T | |
5 | g.37064763G>C | CA359522922 | CPLANE1,NIPBL | c.8286G>C (p.Trp2762Cys) c.*230G>C (n.*230G>C) n.2209G>C c.186G>C (p.Trp62Cys) c.*740G>C (n.*740G>C) c.7542G>C (p.Trp2514Cys) c.8139G>C (p.Trp2713Cys) c.8088G>C (p.Trp2696Cys) c.7905G>C (p.Trp2635Cys) c.7626G>C (p.Trp2542Cys) c.6669G>C (p.Trp2223Cys) c.6660G>C (p.Trp2220Cys) n.11919C>G | gnomAD v4 |
5 | g.37064763G>T | CA359522925 | CPLANE1,NIPBL | c.8286G>T (p.Trp2762Cys) c.*230G>T (n.*230G>T) n.2209G>T c.186G>T (p.Trp62Cys) c.*740G>T (n.*740G>T) c.7542G>T (p.Trp2514Cys) c.8139G>T (p.Trp2713Cys) c.8088G>T (p.Trp2696Cys) c.7905G>T (p.Trp2635Cys) c.7626G>T (p.Trp2542Cys) c.6669G>T (p.Trp2223Cys) c.6660G>T (p.Trp2220Cys) n.11919C>A | |
5 | g.37064764G>A | CA359522935 | CPLANE1,NIPBL | c.8287G>A (p.Val2763Ile) c.*231G>A (n.*231G>A) n.2210G>A c.187G>A (p.Val63Ile) c.*741G>A (n.*741G>A) c.7543G>A (p.Val2515Ile) c.8140G>A (p.Val2714Ile) c.8089G>A (p.Val2697Ile) c.7906G>A (p.Val2636Ile) c.7627G>A (p.Val2543Ile) c.6670G>A (p.Val2224Ile) c.6661G>A (p.Val2221Ile) n.11918C>T | |
5 | g.37064764G>C | CA359522943 | CPLANE1,NIPBL | c.8287G>C (p.Val2763Leu) c.*231G>C (n.*231G>C) n.2210G>C c.187G>C (p.Val63Leu) c.*741G>C (n.*741G>C) c.7543G>C (p.Val2515Leu) c.8140G>C (p.Val2714Leu) c.8089G>C (p.Val2697Leu) c.7906G>C (p.Val2636Leu) c.7627G>C (p.Val2543Leu) c.6670G>C (p.Val2224Leu) c.6661G>C (p.Val2221Leu) n.11918C>G | |
5 | g.37064764G= | CA1539590545 | CPLANE1,NIPBL | c.8287G= (p.Val2763=) c.*231G= (n.*231G=) n.2210G= c.187G= (p.Val63=) c.*741G= (n.*741G=) c.7543G= (p.Val2515=) c.8140G= (p.Val2714=) c.8089G= (p.Val2697=) c.7906G= (p.Val2636=) c.7627G= (p.Val2543=) c.6670G= (p.Val2224=) c.6661G= (p.Val2221=) n.11918C= | |
5 | g.37064764G>T | CA359522947 | CPLANE1,NIPBL | c.8287G>T (p.Val2763Leu) c.*231G>T (n.*231G>T) n.2210G>T c.187G>T (p.Val63Leu) c.*741G>T (n.*741G>T) c.7543G>T (p.Val2515Leu) c.8140G>T (p.Val2714Leu) c.8089G>T (p.Val2697Leu) c.7906G>T (p.Val2636Leu) c.7627G>T (p.Val2543Leu) c.6670G>T (p.Val2224Leu) c.6661G>T (p.Val2221Leu) n.11918C>A | dbSNP |
5 | g.37064765T>A | CA359522949 | CPLANE1,NIPBL | c.8288T>A (p.Val2763Glu) c.*232T>A (n.*232T>A) n.2211T>A c.188T>A (p.Val63Glu) c.*742T>A (n.*742T>A) c.7544T>A (p.Val2515Glu) c.8141T>A (p.Val2714Glu) c.8090T>A (p.Val2697Glu) c.7907T>A (p.Val2636Glu) c.7628T>A (p.Val2543Glu) c.6671T>A (p.Val2224Glu) c.6662T>A (p.Val2221Glu) n.11917A>T | |
5 | g.37064765T>C | CA359522950 | CPLANE1,NIPBL | c.8288T>C (p.Val2763Ala) c.*232T>C (n.*232T>C) n.2211T>C c.188T>C (p.Val63Ala) c.*742T>C (n.*742T>C) c.7544T>C (p.Val2515Ala) c.8141T>C (p.Val2714Ala) c.8090T>C (p.Val2697Ala) c.7907T>C (p.Val2636Ala) c.7628T>C (p.Val2543Ala) c.6671T>C (p.Val2224Ala) c.6662T>C (p.Val2221Ala) n.11917A>G | |
5 | g.37064765T>G | CA359522953 | CPLANE1,NIPBL | c.8288T>G (p.Val2763Gly) c.*232T>G (n.*232T>G) n.2211T>G c.188T>G (p.Val63Gly) c.*742T>G (n.*742T>G) c.7544T>G (p.Val2515Gly) c.8141T>G (p.Val2714Gly) c.8090T>G (p.Val2697Gly) c.7907T>G (p.Val2636Gly) c.7628T>G (p.Val2543Gly) c.6671T>G (p.Val2224Gly) c.6662T>G (p.Val2221Gly) n.11917A>C | |
5 | g.37064766A>C | CA444096566 | CPLANE1,NIPBL | c.8289A>C (p.Val2763=) c.*233A>C (n.*233A>C) n.2212A>C c.189A>C (p.Val63=) c.*743A>C (n.*743A>C) c.7545A>C (p.Val2515=) c.8142A>C (p.Val2714=) c.8091A>C (p.Val2697=) c.7908A>C (p.Val2636=) c.7629A>C (p.Val2543=) c.6672A>C (p.Val2224=) c.6663A>C (p.Val2221=) n.11916T>G | |
5 | g.37064766A>G | CA444096567 | CPLANE1,NIPBL | c.8289A>G (p.Val2763=) c.*233A>G (n.*233A>G) n.2212A>G c.189A>G (p.Val63=) c.*743A>G (n.*743A>G) c.7545A>G (p.Val2515=) c.8142A>G (p.Val2714=) c.8091A>G (p.Val2697=) c.7908A>G (p.Val2636=) c.7629A>G (p.Val2543=) c.6672A>G (p.Val2224=) c.6663A>G (p.Val2221=) n.11916T>C | |
5 | g.37064766A>T | CA444096568 | CPLANE1,NIPBL | c.8289A>T (p.Val2763=) c.*233A>T (n.*233A>T) n.2212A>T c.189A>T (p.Val63=) c.*743A>T (n.*743A>T) c.7545A>T (p.Val2515=) c.8142A>T (p.Val2714=) c.8091A>T (p.Val2697=) c.7908A>T (p.Val2636=) c.7629A>T (p.Val2543=) c.6672A>T (p.Val2224=) c.6663A>T (p.Val2221=) n.11916T>A | |
5 | g.37064767G>A | CA359522965 | CPLANE1,NIPBL | c.8290G>A (p.Asp2764Asn) c.*234G>A (n.*234G>A) n.2213G>A c.190G>A (p.Asp64Asn) c.*744G>A (n.*744G>A) c.7546G>A (p.Asp2516Asn) c.8143G>A (p.Asp2715Asn) c.8092G>A (p.Asp2698Asn) c.7909G>A (p.Asp2637Asn) c.7630G>A (p.Asp2544Asn) c.6673G>A (p.Asp2225Asn) c.6664G>A (p.Asp2222Asn) n.11915C>T | |
5 | g.37064767G>C | CA359522959 | CPLANE1,NIPBL | c.8290G>C (p.Asp2764His) c.*234G>C (n.*234G>C) n.2213G>C c.190G>C (p.Asp64His) c.*744G>C (n.*744G>C) c.7546G>C (p.Asp2516His) c.8143G>C (p.Asp2715His) c.8092G>C (p.Asp2698His) c.7909G>C (p.Asp2637His) c.7630G>C (p.Asp2544His) c.6673G>C (p.Asp2225His) c.6664G>C (p.Asp2222His) n.11915C>G | |
5 | g.37064767G>T | CA359522961 | CPLANE1,NIPBL | c.8290G>T (p.Asp2764Tyr) c.*234G>T (n.*234G>T) n.2213G>T c.190G>T (p.Asp64Tyr) c.*744G>T (n.*744G>T) c.7546G>T (p.Asp2516Tyr) c.8143G>T (p.Asp2715Tyr) c.8092G>T (p.Asp2698Tyr) c.7909G>T (p.Asp2637Tyr) c.7630G>T (p.Asp2544Tyr) c.6673G>T (p.Asp2225Tyr) c.6664G>T (p.Asp2222Tyr) n.11915C>A | |
5 | g.37064768A>C | CA359522970 | CPLANE1,NIPBL | c.8291A>C (p.Asp2764Ala) c.*235A>C (n.*235A>C) n.2214A>C c.191A>C (p.Asp64Ala) c.*745A>C (n.*745A>C) c.7547A>C (p.Asp2516Ala) c.8144A>C (p.Asp2715Ala) c.8093A>C (p.Asp2698Ala) c.7910A>C (p.Asp2637Ala) c.7631A>C (p.Asp2544Ala) c.6674A>C (p.Asp2225Ala) c.6665A>C (p.Asp2222Ala) n.11914T>G | |
5 | g.37064768A>G | CA359522972 | CPLANE1,NIPBL | c.8291A>G (p.Asp2764Gly) c.*235A>G (n.*235A>G) n.2214A>G c.191A>G (p.Asp64Gly) c.*745A>G (n.*745A>G) c.7547A>G (p.Asp2516Gly) c.8144A>G (p.Asp2715Gly) c.8093A>G (p.Asp2698Gly) c.7910A>G (p.Asp2637Gly) c.7631A>G (p.Asp2544Gly) c.6674A>G (p.Asp2225Gly) c.6665A>G (p.Asp2222Gly) n.11914T>C | |
5 | g.37064768A>T | CA359522975 | CPLANE1,NIPBL | c.8291A>T (p.Asp2764Val) c.*235A>T (n.*235A>T) n.2214A>T c.191A>T (p.Asp64Val) c.*745A>T (n.*745A>T) c.7547A>T (p.Asp2516Val) c.8144A>T (p.Asp2715Val) c.8093A>T (p.Asp2698Val) c.7910A>T (p.Asp2637Val) c.7631A>T (p.Asp2544Val) c.6674A>T (p.Asp2225Val) c.6665A>T (p.Asp2222Val) n.11914T>A |