Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.45947995A= | CA2366448067 | PCIF1 | c.*240A= (n.*240A=) c.1296A= | |
20 | g.45947995A>G | CA315641639 | PCIF1 | c.*240A>G (n.*240A>G) c.1296A>G | dbSNP |
20 | g.45947995A>T | CA2366448068 | PCIF1 | c.*240A>T (n.*240A>T) c.1296A>T | dbSNP |
20 | g.45947998del | CA2653107794 | PCIF1 | c.*243del (n.*243del) c.1299del | gnomAD v4 |
20 | g.45947996A>G | CA2653107795 | PCIF1 | c.*241A>G (n.*241A>G) c.1297A>G | gnomAD v4 |
20 | g.45947997A>C | CA2653107796 | PCIF1 | c.*242A>C (n.*242A>C) c.1298A>C | gnomAD v4 |
20 | g.45947997A>G | CA2653107797 | PCIF1 | c.*242A>G (n.*242A>G) c.1298A>G | gnomAD v4 |
20 | g.45947999G>A | CA2653107798 | PCIF1 | c.*244G>A (n.*244G>A) c.1300G>A | gnomAD v4 |
20 | g.45948000G>A | CA636031937 | PCIF1 | c.*245G>A (n.*245G>A) c.1301G>A | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45948000G>C | CA2653107799 | PCIF1 | c.*245G>C (n.*245G>C) c.1301G>C | gnomAD v4 |
20 | g.45948000G= | CA2366448069 | PCIF1 | c.*245G= (n.*245G=) c.1301G= | |
20 | g.45948001A>T | CA2558410014 | PCIF1 | c.*246A>T (n.*246A>T) c.1302A>T | |
20 | g.45948006C>A | CA2653107800 | PCIF1 | c.*251C>A (n.*251C>A) c.1307C>A | gnomAD v4 |
20 | g.45948006C= | CA2366448070 | PCIF1 | c.*251C= (n.*251C=) c.1307C= | |
20 | g.45948006C>T | CA744845337 | PCIF1 | c.*251C>T (n.*251C>T) c.1307C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45948007A>T | CA2653107802 | PCIF1 | c.*252A>T (n.*252A>T) c.1308A>T | gnomAD v4 |
20 | g.45948008_45948010dup | CA2653107801 | PCIF1 | c.*253_*255dup (n.*253_*255dup) c.1309_1311dup | gnomAD v4 |
20 | g.45948008_45948010del | CA2816513982 | PCIF1 | c.*253_*255del (n.*253_*255del) c.1309_1311del | |
20 | g.45948010A= | CA2366448071 | PCIF1 | c.*255A= (n.*255A=) c.1311A= | |
20 | g.45948010A>G | CA2653107803 | PCIF1 | c.*255A>G (n.*255A>G) c.1311A>G | gnomAD v4 |
20 | g.45948010_45948011insCCACCT | CA2366448074 | PCIF1 | c.*255_*256insCCACCT (n.*255_*256insCCACCT) c.1311_1312insCCACCT | dbSNP |
20 | g.45948011A= | CA2366448072 | PCIF1 | c.*256A= (n.*256A=) c.1312A= | |
20 | g.45948011A>C | CA9884715 | PCIF1 | c.*256A>C (n.*256A>C) c.1312A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45948011_45948014delinsACCC | CA2366448073 | PCIF1 | c.*256_*259delinsACCC (n.*256_*259delinsACCC) c.1312_1315delinsACCC | |
20 | g.45948012C>A | CA2653107804 | PCIF1 | c.*257C>A (n.*257C>A) c.1313C>A | gnomAD v4 |
20 | g.45948012C= | CA2366448075 | PCIF1 | c.*257C= (n.*257C=) c.1313C= | |
20 | g.45948012C>T | CA2366448076 | PCIF1 | c.*257C>T (n.*257C>T) c.1313C>T | dbSNP gnomAD v4 |
20 | g.45948018dup | CA9884716 | PCIF1 | c.*263dup (n.*263dup) c.1319dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45948018del | CA920221988 | PCIF1 | c.*263del (n.*263del) c.1319del | dbSNP gnomAD v4 |
20 | g.45948016_45948018del | CA636031938 | PCIF1 | c.*261_*263del (n.*261_*263del) c.1317_1319del | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45948013C>A | CA2653107805 | PCIF1 | c.*258C>A (n.*258C>A) c.1314C>A | gnomAD v4 |
20 | g.45948013C= | CA2366448077 | PCIF1 | c.*258C= (n.*258C=) c.1314C= | |
20 | g.45948013C>T | CA744845338 | PCIF1 | c.*258C>T (n.*258C>T) c.1314C>T | dbSNP |
20 | g.45948014C= | CA2366448078 | PCIF1 | c.*259C= (n.*259C=) c.1315C= | |
20 | g.45948014C>G | CA2653107806 | PCIF1 | c.*259C>G (n.*259C>G) c.1315C>G | gnomAD v4 |
20 | g.45948014C>T | CA2366448079 | PCIF1 | c.*259C>T (n.*259C>T) c.1315C>T | dbSNP gnomAD v4 |
20 | g.45948015C= | CA2366448080 | PCIF1 | c.*260C= (n.*260C=) c.1316C= | |
20 | g.45948015C>G | CA636031939 | PCIF1 | c.*260C>G (n.*260C>G) c.1316C>G | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45948015C>T | CA2653107807 | PCIF1 | c.*260C>T (n.*260C>T) c.1316C>T | gnomAD v4 |
20 | g.45948016C>G | CA2653107808 | PCIF1 | c.*261C>G (n.*261C>G) c.1317C>G | gnomAD v4 |
20 | g.45948016C>T | CA2653107809 | PCIF1 | c.*261C>T (n.*261C>T) c.1317C>T | gnomAD v4 |
20 | g.45948017C>A | CA9884717 | PCIF1 | c.*262C>A (n.*262C>A) c.1318C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45948017C= | CA2366448081 | PCIF1 | c.*262C= (n.*262C=) c.1318C= | |
20 | g.45948017C>G | CA636031940 | PCIF1 | c.*262C>G (n.*262C>G) c.1318C>G | dbSNP gnomAD v2 gnomAD v4 |
20 | g.45948017C>T | CA315641673 | PCIF1 | c.*262C>T (n.*262C>T) c.1318C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45948018C>A | CA2366448083 | PCIF1 | c.*263C>A (n.*263C>A) c.1319C>A | dbSNP gnomAD v4 |
20 | g.45948018C= | CA2366448082 | PCIF1 | c.*263C= (n.*263C=) c.1319C= | |
20 | g.45948018C>G | CA2653107810 | PCIF1 | c.*263C>G (n.*263C>G) c.1319C>G | gnomAD v4 |
20 | g.45948019A>C | CA2653107811 | PCIF1 | c.*264A>C (n.*264A>C) c.1320A>C | gnomAD v4 |
20 | g.45948019A>G | CA2653107812 | PCIF1 | c.*264A>G (n.*264A>G) c.1320A>G | gnomAD v4 |
20 | g.45948020A>G | CA2653107813 | PCIF1 | c.*265A>G (n.*265A>G) c.1321A>G | gnomAD v4 |
20 | g.45948021G>A | CA2653107814 | PCIF1 | c.*266G>A (n.*266G>A) c.1322G>A | gnomAD v4 |
20 | g.45948022A= | CA2366448084 | PCIF1 | c.*267A= (n.*267A=) c.1323A= | |
20 | g.45948022A>G | CA2366448085 | PCIF1 | c.*267A>G (n.*267A>G) c.1323A>G | dbSNP gnomAD v4 |
20 | g.45948023A>C | CA2653107815 | PCIF1 | c.*268A>C (n.*268A>C) c.1324A>C | gnomAD v4 |
20 | g.45948023_45948025delinsATG | CA2366448086 | |||
20 | g.45948024T>C | CA2816513983 | |||
20 | g.45948028_45948029del | CA636031941 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
20 | g.45948025G>T | CA2577413027 | |||
20 | g.45948026T>A | CA2653107816 | gnomAD v4 | ||
20 | g.45948026T>C | CA2653107817 | gnomAD v4 | ||
20 | g.45948027G>A | CA2653107818 | gnomAD v4 | ||
20 | g.45948027G= | CA2366448087 | |||
20 | g.45948027G>T | CA636031942 | dbSNP gnomAD v2 gnomAD v4 | ||
20 | g.45948029G>A | CA2653107819 | gnomAD v4 | ||
20 | g.45948030A= | CA2366448088 | |||
20 | g.45948030A>G | CA636031943 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
20 | g.45948031G>A | CA315641678 | dbSNP gnomAD v3 gnomAD v4 | ||
20 | g.45948031G= | CA2366448089 | |||
20 | g.45948032G>A | CA636031944 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
20 | g.45948032G>C | CA315641683 | dbSNP gnomAD v3 gnomAD v4 | ||
20 | g.45948032G= | CA2366448090 | |||
20 | g.45948033G>A | CA2816513984 | |||
20 | g.45948033G>C | CA2577413031 | |||
20 | g.45948034T>C | CA2653107820 | gnomAD v4 | ||
20 | g.45948037_45948040delinsTGAG | CA2366448091 | |||
20 | g.45948038G>C | CA2653107821 | gnomAD v4 | ||
20 | g.45948039_45948041del | CA636031945 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
20 | g.45948040G>A | CA2653107822 | gnomAD v4 | ||
20 | g.45948040G>T | CA2653107823 | gnomAD v4 | ||
20 | g.45948041G>A | CA636031946 | dbSNP gnomAD v2 gnomAD v4 | ||
20 | g.45948041G= | CA2366448092 | |||
20 | g.45948041G>T | CA2653107824 | gnomAD v4 | ||
20 | g.45948042G>A | CA744845359 | dbSNP gnomAD v4 | ||
20 | g.45948042G= | CA2366448093 | |||
20 | g.45948042G>T | CA2653107825 | gnomAD v4 | ||
20 | g.45948043C>A | CA636031947 | dbSNP gnomAD v2 gnomAD v4 | ||
20 | g.45948043C= | CA2366448094 | |||
20 | g.45948043C>G | CA2653107826 | gnomAD v4 | ||
20 | g.45948043C>T | CA2653107827 | gnomAD v4 | ||
20 | g.45948044A= | CA2366448095 | |||
20 | g.45948044A>G | CA315641685 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
20 | g.45948045G>C | CA2366448097 | dbSNP | ||
20 | g.45948045G= | CA2366448096 | |||
20 | g.45948045G>T | CA2653107828 | gnomAD v4 | ||
20 | g.45948047G>A | CA744845361 | dbSNP gnomAD v4 | ||
20 | g.45948047G= | CA2366448098 | |||
20 | g.45948048A>G | CA2653107829 | gnomAD v4 | ||
20 | g.45948049A>G | CA2653107830 | gnomAD v4 | ||
20 | g.45948049A>T | CA2653107831 | gnomAD v4 | ||
20 | g.45948050G>C | CA2366448100 | dbSNP gnomAD v3 gnomAD v4 | ||
20 | g.45948050G= | CA2366448099 | |||
20 | g.45948050G>T | CA315641686 | dbSNP gnomAD v3 gnomAD v4 | ||
20 | g.45948051G>A | CA2653107832 | gnomAD v4 | ||
20 | g.45948051G>C | CA2366448102 | dbSNP gnomAD v4 | ||
20 | g.45948051G= | CA2366448101 | |||
20 | g.45948051G>T | CA2653107833 | gnomAD v4 | ||
20 | g.45948053T>A | CA315641689 | dbSNP gnomAD v3 gnomAD v4 | ||
20 | g.45948053T= | CA2366448103 | |||
20 | g.45948054G>A | CA2653107834 | gnomAD v4 | ||
20 | g.45948055A>G | CA2653107835 | gnomAD v4 | ||
20 | g.45948056G>A | CA2366448105 | dbSNP gnomAD v4 | ||
20 | g.45948056G= | CA2366448104 | |||
20 | g.45948056G>T | CA2653107836 | gnomAD v4 | ||
20 | g.45948057G>A | CA2366448107 | dbSNP | ||
20 | g.45948057G= | CA2366448106 | |||
20 | g.45948057G>T | CA2653107837 | gnomAD v4 | ||
20 | g.45948058C>A | CA2653107838 | gnomAD v4 | ||
20 | g.45948058C>T | CA2653107839 | gnomAD v4 | ||
20 | g.45948060G>A | CA315641695 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
20 | g.45948060G>C | CA636031948 | dbSNP gnomAD v2 gnomAD v4 | ||
20 | g.45948060G= | CA2366448108 | |||
20 | g.45948061C>A | CA2653107840 | gnomAD v4 | ||
20 | g.45948062T>C | CA2577413033 | |||
20 | g.45948062T>G | CA2653107841 | gnomAD v4 | ||
20 | g.45948063G>A | CA315641699 | dbSNP gnomAD v4 | ||
20 | g.45948063G= | CA2366448109 | |||
20 | g.45948064G>C | CA315641707 | dbSNP | ||
20 | g.45948064G= | CA2366448110 | |||
20 | g.45948064G>T | CA2653107842 | gnomAD v4 | ||
20 | g.45948065del | CA2816513986 | |||
20 | g.45948065A>G | CA2653107843 | dbSNP gnomAD v4 | ||
20 | g.45948066G>A | CA744845374 | dbSNP gnomAD v3 gnomAD v4 | ||
20 | g.45948066G= | CA2366448111 | |||
20 | g.45948067C>A | CA2653107844 | gnomAD v4 | ||
20 | g.45948067C>T | CA2653107845 | gnomAD v4 | ||
20 | g.45948068T>C | CA2653107846 | gnomAD v4 | ||
20 | g.45948069A= | CA2366448112 | |||
20 | g.45948069A>G | CA744845375 | dbSNP gnomAD v3 gnomAD v4 | ||
20 | g.45948070C>A | CA744845377 | dbSNP gnomAD v3 gnomAD v4 | ||
20 | g.45948070C= | CA2366448113 | |||
20 | g.45948070C>T | CA2653107847 | gnomAD v4 | ||
20 | g.45948071T>C | CA2366448115 | dbSNP | ||
20 | g.45948071T= | CA2366448114 | |||
20 | g.45948073C>A | CA2653107849 | gnomAD v4 | ||
20 | g.45948073C= | CA2366448116 | |||
20 | g.45948073C>G | CA2366448117 | dbSNP gnomAD v4 | ||
20 | g.45948073C>T | CA2653107848 | gnomAD v4 | ||
20 | g.45948074T>C | CA2366448119 | dbSNP gnomAD v4 | ||
20 | g.45948074T>G | CA315641712 | dbSNP | ||
20 | g.45948074T= | CA2366448118 | |||
20 | g.45948075G>A | CA2653107850 | gnomAD v4 | ||
20 | g.45948075G>T | CA2653107851 | gnomAD v4 | ||
20 | g.45948076G>C | CA2577413034 | |||
20 | g.45948076G>T | CA2653107852 | gnomAD v4 | ||
20 | g.45948077G>A | CA2366448121 | dbSNP gnomAD v4 | ||
20 | g.45948077G= | CA2366448120 | |||
20 | g.45948077G>T | CA2653107853 | gnomAD v4 | ||
20 | g.45948078A>C | CA2653107854 | gnomAD v4 | ||
20 | g.45948078A>T | CA2653107855 | gnomAD v4 | ||
20 | g.45948079C>A | CA2577413036 | gnomAD v4 | ||
20 | g.45948079C>T | CA2653107856 | gnomAD v4 | ||
20 | g.45948080del | CA2577413035 | gnomAD v4 | ||
20 | g.45948080C>A | CA2577413037 | gnomAD v4 | ||
20 | g.45948080C>G | CA2653107858 | gnomAD v4 | ||
20 | g.45948080C>T | CA2653107857 | gnomAD v4 | ||
20 | g.45948083_45948084del | CA2653107859 | gnomAD v4 | ||
20 | g.45948081A>G | CA2577413038 | gnomAD v4 | ||
20 | g.45948082C>A | CA2653107860 | gnomAD v4 | ||
20 | g.45948082C= | CA2366448122 | |||
20 | g.45948082C>T | CA315641715 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
20 | g.45948083A= | CA2366448123 | |||
20 | g.45948083A>C | CA2653107861 | gnomAD v4 | ||
20 | g.45948083A>G | CA2366448125 | dbSNP gnomAD v4 | ||
20 | g.45948083A>T | CA2653107862 | gnomAD v4 | ||
20 | g.45948083_45948088delinsACTCCC | CA2366448124 | |||
20 | g.45948084del | CA2736988148 | dbSNP | ||
20 | g.45948084C>A | CA2577413039 | gnomAD v4 | ||
20 | g.45948084C= | CA2366448127 | |||
20 | g.45948084C>T | CA2366448128 | dbSNP gnomAD v4 | ||
20 | g.45948089_45948093del | CA2366448126 | dbSNP gnomAD v4 | ||
20 | g.45948085T>C | CA2653107863 | gnomAD v4 | ||
20 | g.45948085T>G | CA2653107864 | gnomAD v4 | ||
20 | g.45948086C>A | CA2653107865 | gnomAD v4 | ||
20 | g.45948086C= | CA2366448130 | |||
20 | g.45948086C>T | CA2653107866 | gnomAD v4 | ||
20 | g.45948086_45948090delinsCCCCT | CA2366448129 | |||
20 | g.45948087C>A | CA2653107867 | gnomAD v4 | ||
20 | g.45948087C= | CA2366448132 | |||
20 | g.45948087C>G | CA2653107868 | gnomAD v4 | ||
20 | g.45948087C>T | CA2366448133 | dbSNP gnomAD v4 | ||
20 | g.45948092_45948093insTCCCTCC | CA2366448131 | dbSNP | ||
20 | g.45948097_45948100dup | CA315641718 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
20 | g.45948097_45948100del | CA636031949 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 | ||
20 | g.45948088C>A | CA2653107869 | gnomAD v4 | ||
20 | g.45948088C= | CA2366448134 | |||
20 | g.45948088C>T | CA744845389 | dbSNP gnomAD v3 gnomAD v4 | ||
20 | g.45948089C>A | CA2653107870 | gnomAD v4 | ||
20 | g.45948089C= | CA2366448135 | |||
20 | g.45948089C>T | CA2366448136 | dbSNP gnomAD v4 | ||
20 | g.45948090T>C | CA2653107871 | gnomAD v4 | ||
20 | g.45948090T>G | CA2653107872 | gnomAD v4 | ||
20 | g.45948091C>A | CA2653107873 | gnomAD v4 | ||
20 | g.45948091C>T | CA2653107874 | gnomAD v4 | ||
20 | g.45948093del | CA2577413040 | |||
20 | g.45948092C>A | CA2653107875 | gnomAD v4 | ||
20 | g.45948092C= | CA2366448137 | |||
20 | g.45948092C>T | CA315641724 | dbSNP | ||
20 | g.45948093C>A | CA2577413041 | gnomAD v4 | ||
20 | g.45948093C>G | CA2653107876 | gnomAD v4 | ||
20 | g.45948094T>C | CA2653107878 | gnomAD v4 | ||
20 | g.45948094T>G | CA2653107877 | gnomAD v4 | ||
20 | g.45948095C>A | CA2577413042 | gnomAD v4 | ||
20 | g.45948095C= | CA2366448138 | |||
20 | g.45948095C>G | CA2653107879 | gnomAD v4 | ||
20 | g.45948095C>T | CA315641725 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |