Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37064751_37064758delinsACTGGTGCCA1539590519CPLANE1,NIPBLc.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
5g.37064754_37064760delCA272325CPLANE1,NIPBLc.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
5g.37064754G>ACA444096558CPLANE1,NIPBLc.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
5g.37064754G>CCA444096559CPLANE1,NIPBLc.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
5g.37064754G>TCA444096560CPLANE1,NIPBLc.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
5g.37064755G>ACA359522874CPLANE1,NIPBLc.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
5g.37064755G>CCA359522870CPLANE1,NIPBLc.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
5g.37064755G>TCA359522872CPLANE1,NIPBLc.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
5g.37064756T>ACA359522875CPLANE1,NIPBLc.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
5g.37064756T>CCA359522880CPLANE1,NIPBLc.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
5g.37064756T>GCA359522883CPLANE1,NIPBLc.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
5g.37064757G>ACA3237350CPLANE1,NIPBLc.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
5g.37064757G>CCA444096561CPLANE1,NIPBLc.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
5g.37064757G=CA1539590539CPLANE1,NIPBLc.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=
5g.37064757G>TCA444096562CPLANE1,NIPBLc.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
5g.37064758C>ACA359522887CPLANE1,NIPBLc.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
5g.37064758C>GCA359522890CPLANE1,NIPBLc.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
5g.37064758C>TCA359522892CPLANE1,NIPBLc.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
5g.37064759C>ACA359522894CPLANE1,NIPBLc.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
5g.37064759C>GCA359522898CPLANE1,NIPBLc.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
5g.37064759C>TCA359522901CPLANE1,NIPBLc.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
5g.37064760T>ACA444096563CPLANE1,NIPBLc.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
5g.37064760T>CCA444096564CPLANE1,NIPBLc.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
5g.37064760T>GCA444096565CPLANE1,NIPBLc.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
5g.37064761T>ACA359522909CPLANE1,NIPBLc.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
5g.37064761T>CCA359522906CPLANE1,NIPBLc.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
5g.37064761T>GCA359522904CPLANE1,NIPBLc.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
5g.37064762G>ACA359522911CPLANE1,NIPBLc.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
5g.37064762G>CCA359522914CPLANE1,NIPBLc.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
5g.37064762G>TCA359522917CPLANE1,NIPBLc.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
5g.37064764dupCA2695204373CPLANE1,NIPBLc.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
5g.37064763G>ACA359522920CPLANE1,NIPBLc.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
5g.37064763G>CCA359522922CPLANE1,NIPBLc.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
5g.37064763G>TCA359522925CPLANE1,NIPBLc.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
5g.37064764G>ACA359522935CPLANE1,NIPBLc.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
5g.37064764G>CCA359522943CPLANE1,NIPBLc.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
5g.37064764G=CA1539590545CPLANE1,NIPBLc.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=
5g.37064764G>TCA359522947CPLANE1,NIPBLc.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
5g.37064765T>ACA359522949CPLANE1,NIPBLc.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
5g.37064765T>CCA359522950CPLANE1,NIPBLc.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
5g.37064765T>GCA359522953CPLANE1,NIPBLc.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
5g.37064766A>CCA444096566CPLANE1,NIPBLc.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
5g.37064766A>GCA444096567CPLANE1,NIPBLc.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
5g.37064766A>TCA444096568CPLANE1,NIPBLc.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
5g.37064767G>ACA359522965CPLANE1,NIPBLc.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
5g.37064767G>CCA359522959CPLANE1,NIPBLc.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
5g.37064767G>TCA359522961CPLANE1,NIPBLc.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
5g.37064768A>CCA359522970CPLANE1,NIPBLc.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
5g.37064768A>GCA359522972CPLANE1,NIPBLc.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
5g.37064768A>TCA359522975CPLANE1,NIPBLc.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

Number of alleles fetched