| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.58280927G>A | CA2638975892 | MPO | c.-169C>T (n.-169C>T) c.213C>T (p.Ile71=) | gnomAD v4 |
| 17 | g.58280927G>T | CA2638975890 | MPO | c.-169C>A (n.-169C>A) c.213C>A (p.Ile71=) | gnomAD v4 |
| 17 | g.58280928A= | CA2267634854 | MPO | c.-170T= (n.-170T=) c.212T= (p.Ile71=) | |
| 17 | g.58280928A>C | CA292020114 | MPO | c.-170T>G (n.-170T>G) c.212T>G (p.Ile71Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.58280928A>T | CA2638975895 | MPO | c.-170T>A (n.-170T>A) c.212T>A (p.Ile71Asn) | gnomAD v4 |
| 17 | g.58280929T>C | CA292020129 | MPO | c.-171A>G (n.-171A>G) c.211A>G (p.Ile71Val) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.58280929T= | CA2267634855 | MPO | c.-171A= (n.-171A=) c.211A= (p.Ile71=) | |
| 17 | g.58280931T>C | CA2638975899 | MPO | c.-173A>G (n.-173A>G) c.209A>G (p.Asn70Ser) | gnomAD v4 |
| 17 | g.58280932T>C | CA2638975901 | MPO | c.-174A>G (n.-174A>G) c.208A>G (p.Asn70Asp) | gnomAD v4 |
| 17 | g.58280933G>T | CA2638975903 | MPO | c.-175C>A (n.-175C>A) c.207C>A (p.Asp69Glu) | gnomAD v4 |
| 17 | g.58280934T>A | CA773487644 | MPO | c.-176A>T (n.-176A>T) c.206A>T (p.Asp69Val) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.58280934T= | CA2267634856 | MPO | c.-176A= (n.-176A=) c.206A= (p.Asp69=) | |
| 17 | g.58280935C>A | CA2638975904 | MPO | c.-177G>T (n.-177G>T) c.205G>T (p.Asp69Tyr) | gnomAD v4 |
| 17 | g.58280935C>T | CA2638975906 | MPO | c.-177G>A (n.-177G>A) c.205G>A (p.Asp69Asn) | gnomAD v4 |
| 17 | g.58280936A>C | CA2733809857 | MPO | c.204T>G (p.Ala68=) | dbSNP |
| 17 | g.58280937G>A | CA292020131 | MPO | c.203C>T (p.Ala68Val) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.58280937G= | CA2267634857 | MPO | c.203C= (p.Ala68=) | |
| 17 | g.58280937G>T | CA2638975912 | MPO | c.203C>A (p.Ala68Asp) | gnomAD v4 |
| 17 | g.58280938C>A | CA2638975914 | MPO | c.202G>T (p.Ala68Ser) | gnomAD v4 |
| 17 | g.58280938C= | CA2267634858 | MPO | c.202G= (p.Ala68=) | |
| 17 | g.58280938C>T | CA292020137 | MPO | c.202G>A (p.Ala68Thr) | dbSNP |
| 17 | g.58280939T>C | CA2267634860 | MPO | c.201A>G (p.Gly67=) | dbSNP |
| 17 | g.58280939T= | CA2267634859 | MPO | c.201A= (p.Gly67=) | |
| 17 | g.58280941C>A | CA2638975916 | MPO | c.199G>T (p.Gly67Ter) | gnomAD v4 |
| 17 | g.58280942T>A | CA2638975917 | MPO | c.198A>T (p.Arg66Ser) | gnomAD v4 |
| 17 | g.58280942T>C | CA2638975918 | MPO | c.198A>G (p.Arg66=) | gnomAD v4 |
| 17 | g.58280943C= | CA2267634861 | MPO | c.197G= (p.Arg66=) | |
| 17 | g.58280943C>T | CA292020147 | MPO | c.197G>A (p.Arg66Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.58280945T>G | CA2638975920 | MPO | c.195A>C (p.Leu65=) | gnomAD v4 |
| 17 | g.58280946A= | CA2267634862 | MPO | c.194T= (p.Leu65=) | |
| 17 | g.58280946A>G | CA292020155 | MPO | c.194T>C (p.Leu65Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.58280946A>T | CA2638975925 | MPO | c.194T>A (p.Leu65Gln) | gnomAD v4 |
| 17 | g.58280947G>A | CA2638975927 | MPO | c.193C>T (p.Leu65=) | gnomAD v4 |
| 17 | g.58280947G>T | CA2638975930 | MPO | c.193C>A (p.Leu65Ile) | gnomAD v4 |
| 17 | g.58280948C>A | CA2638975931 | MPO | c.192G>T (p.Glu64Asp) | gnomAD v4 |
| 17 | g.58280949T>C | CA2638975932 | MPO | c.191A>G (p.Glu64Gly) | gnomAD v4 |
| 17 | g.58280950C>A | CA2638975933 | MPO | c.190G>T (p.Glu64Ter) | gnomAD v4 |
| 17 | g.58280951A>C | CA2638975934 | MPO | c.189T>G (p.Ile63Met) | gnomAD v4 |
| 17 | g.58280952A= | CA2267634863 | MPO | c.188T= (p.Ile63=) | |
| 17 | g.58280952A>C | CA2638975936 | MPO | c.188T>G (p.Ile63Ser) | gnomAD v4 |
| 17 | g.58280952A>G | CA626724689 | MPO | c.188T>C (p.Ile63Thr) | dbSNP gnomAD v2 |
| 17 | g.58280953T>C | CA773487652 | MPO | c.187A>G (p.Ile63Val) | dbSNP |
| 17 | g.58280953T= | CA2267634864 | MPO | c.187A= (p.Ile63=) | |
| 17 | g.58280954C>A | CA2638975937 | MPO | c.186G>T (p.Gln62His) | gnomAD v4 |
| 17 | g.58280954C>G | CA2530496701 | MPO | c.186G>C (p.Gln62His) | |
| 17 | g.58280955T>C | CA2638975938 | MPO | c.185A>G (p.Gln62Arg) | gnomAD v4 |
| 17 | g.58280956G>A | CA292020156 | MPO | c.184C>T (p.Gln62Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.58280956G= | CA2267634865 | MPO | c.184C= (p.Gln62=) | |
| 17 | g.58280956G>T | CA2638975939 | MPO | c.184C>A (p.Gln62Lys) | gnomAD v4 |
| 17 | g.58280957C>A | CA2638975943 | MPO | c.183G>T (p.Ala61=) | gnomAD v4 |
| 17 | g.58280957C= | CA2267634866 | MPO | c.183G= (p.Ala61=) | |
| 17 | g.58280957C>T | CA292020157 | MPO | c.183G>A (p.Ala61=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.58280958G>A | CA292020169 | MPO | c.182C>T (p.Ala61Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.58280958G= | CA2267634867 | MPO | c.182C= (p.Ala61=) | |
| 17 | g.58280958G>T | CA2638975945 | MPO | c.182C>A (p.Ala61Glu) | gnomAD v4 |
| 17 | g.58280959C>A | CA2638975947 | MPO | c.181G>T (p.Ala61Ser) | gnomAD v4 |
| 17 | g.58280959C>T | CA2638975948 | MPO | c.181G>A (p.Ala61Thr) | gnomAD v4 |
| 17 | g.58280960T>C | CA2809973547 | MPO | c.180A>G (p.Lys60=) | |
| 17 | g.58280963del | CA985008235 | MPO | c.180del (p.Ala61ArgfsTer5) | gnomAD v3 gnomAD v4 |
| 17 | g.58280961T>C | CA2638975950 | MPO | c.179A>G (p.Lys60Arg) | gnomAD v4 |
| 17 | g.58280962T>C | CA2267634869 | MPO | c.178A>G (p.Lys60Glu) | dbSNP |
| 17 | g.58280962T= | CA2267634868 | MPO | c.178A= (p.Lys60=) | |
| 17 | g.58280963T>C | CA2638975951 | MPO | c.177A>G (p.Ile59Met) | gnomAD v4 |
| 17 | g.58280964A= | CA2267634870 | MPO | c.176T= (p.Ile59=) | |
| 17 | g.58280964A>C | CA2638975952 | MPO | c.176T>G (p.Ile59Arg) | gnomAD v4 |
| 17 | g.58280964A>G | CA292020175 | MPO | c.176T>C (p.Ile59Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.58280965T>G | CA2638975955 | MPO | c.175A>C (p.Ile59Leu) | gnomAD v4 |
| 17 | g.58280967T>A | CA292020181 | MPO | c.173A>T (p.Asp58Val) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.58280967T>C | CA2638975959 | MPO | c.173A>G (p.Asp58Gly) | gnomAD v4 |
| 17 | g.58280967T= | CA2267634871 | MPO | c.173A= (p.Asp58=) | |
| 17 | g.58280968C>A | CA2638975960 | MPO | c.172G>T (p.Asp58Tyr) | gnomAD v4 |
| 17 | g.58280968C>T | CA2638975962 | MPO | c.172G>A (p.Asp58Asn) | gnomAD v4 |
| 17 | g.58280969C>T | CA2638975964 | MPO | c.171G>A (p.Glu57=) | gnomAD v4 |
| 17 | g.58280970T>C | CA773487656 | MPO | c.170A>G (p.Glu57Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.58280970T= | CA2267634872 | MPO | c.170A= (p.Glu57=) | |
| 17 | g.58280972T>G | CA2638975967 | MPO | c.168A>C (p.Leu56Phe) | gnomAD v4 |
| 17 | g.58280973A>C | CA2638975968 | MPO | c.167T>G (p.Leu56Ter) | gnomAD v4 |
| 17 | g.58280973A>G | CA2638975969 | MPO | c.167T>C (p.Leu56Ser) | gnomAD v4 |
| 17 | g.58280975G>A | CA985008241 | MPO | c.165C>T (p.Ser55=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.58280975G= | CA2267634873 | MPO | c.165C= (p.Ser55=) | |
| 17 | g.58280975G>T | CA2638975971 | MPO | c.165C>A (p.Ser55Arg) | gnomAD v4 |
| 17 | g.58280976C>A | CA985008242 | MPO | c.164G>T (p.Ser55Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.58280976C= | CA2267634874 | MPO | c.164G= (p.Ser55=) | |
| 17 | g.58280977_58280978delinsTG | CA2267634875 | MPO | c.162_163delinsCA (p.Pro54=) | |
| 17 | g.58280978G>T | CA2638975976 | MPO | c.162C>A (p.Pro54=) | gnomAD v4 |
| 17 | g.58280982dup | CA2638975973 | MPO | c.162dup (p.Ser55GlnfsTer10) | gnomAD v4 |
| 17 | g.58280982del | CA2267634876 | MPO | c.162del (p.Ser55AlafsTer2) | dbSNP gnomAD v4 |
| 17 | g.58280979G>C | CA2638975981 | MPO | c.161C>G (p.Pro54Arg) | gnomAD v4 |
| 17 | g.58280979G= | CA2267634877 | MPO | c.161C= (p.Pro54=) | |
| 17 | g.58280979G>T | CA773487657 | MPO | c.161C>A (p.Pro54His) | dbSNP gnomAD v4 |
| 17 | g.58280985_58280989del | CA2638975980 | MPO | c.157_161del (p.Thr53GlnfsTer10) | gnomAD v4 |
| 17 | g.58280980G>A | CA2638975985 | MPO | c.160C>T (p.Pro54Ser) | gnomAD v4 |
| 17 | g.58280980G>T | CA2638975987 | MPO | c.160C>A (p.Pro54Thr) | gnomAD v4 |
| 17 | g.58280981G>T | CA2638975988 | MPO | c.159C>A (p.Thr53=) | gnomAD v4 |
| 17 | g.58280982G= | CA2267634878 | MPO | c.158C= (p.Thr53=) | |
| 17 | g.58280982G>T | CA2267634879 | MPO | c.158C>A (p.Thr53Asn) | dbSNP |
| 17 | g.58280983T>C | CA2638975989 | MPO | c.157A>G (p.Thr53Ala) | gnomAD v4 |
| 17 | g.58280983T>G | CA2267634881 | MPO | c.157A>C (p.Thr53Pro) | dbSNP gnomAD v4 |
| 17 | g.58280983T= | CA2267634880 | MPO | c.157A= (p.Thr53=) | |
| 17 | g.58280984G>A | CA2638975993 | MPO | c.156C>T (p.Pro52=) | gnomAD v4 |
| 17 | g.58280984G>T | CA2638975995 | MPO | c.156C>A (p.Pro52=) | gnomAD v4 |
| 17 | g.58280985G>C | CA2267634883 | MPO | c.155C>G (p.Pro52Arg) | dbSNP gnomAD v4 |
| 17 | g.58280985G= | CA2267634882 | MPO | c.155C= (p.Pro52=) | |
| 17 | g.58280985G>T | CA2638975996 | MPO | c.155C>A (p.Pro52His) | gnomAD v4 |
| 17 | g.58280986G>T | CA2638976001 | MPO | c.154C>A (p.Pro52Thr) | gnomAD v4 |
| 17 | g.58280989_58280993del | CA2638975999 | MPO | c.150_154del (p.Thr53GlnfsTer10) | gnomAD v4 |
| 17 | g.58280987G>T | CA626724690 | MPO | c.153C>A (p.His51Gln) | gnomAD v2 gnomAD v4 |
| 17 | g.58280989G>A | CA2267634885 | MPO | c.151C>T (p.His51Tyr) | dbSNP gnomAD v4 |
| 17 | g.58280989G= | CA2267634884 | MPO | c.151C= (p.His51=) | |
| 17 | g.58280989G>T | CA2638976005 | MPO | c.151C>A (p.His51Asn) | gnomAD v4 |
| 17 | g.58280990A>G | CA2638976006 | MPO | c.150T>C (p.Pro50=) | gnomAD v4 |
| 17 | g.58280991G>A | CA292020183 | MPO | c.149C>T (p.Pro50Leu) | dbSNP |
| 17 | g.58280991G>C | CA292020184 | MPO | c.149C>G (p.Pro50Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.58280991G= | CA2267634886 | MPO | c.149C= (p.Pro50=) | |
| 17 | g.58280991G>T | CA2638976010 | MPO | c.149C>A (p.Pro50His) | gnomAD v4 |
| 17 | g.58280992G>A | CA292020189 | MPO | c.148C>T (p.Pro50Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.58280992G= | CA2267634887 | MPO | c.148C= (p.Pro50=) | |
| 17 | g.58280993T>A | CA985008246 | MPO | c.147A>T (p.Leu49=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.58280993T>C | CA2733685796 | MPO | c.147A>G (p.Leu49=) | dbSNP |
| 17 | g.58280993T= | CA2267634888 | MPO | c.147A= (p.Leu49=) | |
| 17 | g.58280997G>A | CA773487665 | MPO | c.143C>T (p.Pro48Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.58280997G= | CA2267634890 | MPO | c.143C= (p.Pro48=) | |
| 17 | g.58280997_58281005delinsGGAAGGTCT | CA2267634889 | MPO | c.135_143delinsAGACCTTCC (p.Ser45=) | |
| 17 | g.58281000_58281007del | CA773487670 | MPO | c.135_142del (p.Asp46SerfsTer16) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.58280999A>G | CA2638976017 | MPO | c.141T>C (p.Leu47=) | gnomAD v4 |
| 17 | g.58281000A= | CA2267634891 | MPO | c.140T= (p.Leu47=) | |
| 17 | g.58281000A>G | CA2267634892 | MPO | c.140T>C (p.Leu47Pro) | dbSNP gnomAD v4 |
| 17 | g.58281001G>A | CA2638976020 | MPO | c.139C>T (p.Leu47Phe) | gnomAD v4 |
| 17 | g.58281001G>T | CA2638976021 | MPO | c.139C>A (p.Leu47Ile) | gnomAD v4 |
| 17 | g.58281002G>A | CA2267634893 | MPO | c.138C>T (p.Asp46=) | dbSNP gnomAD v4 |
| 17 | g.58281002G= | CA2267634894 | MPO | c.138C= (p.Asp46=) | |
| 17 | g.58281002G>T | CA2638976022 | MPO | c.138C>A (p.Asp46Glu) | gnomAD v4 |
| 17 | g.58281004C>A | CA2638976024 | MPO | c.136G>T (p.Asp46Tyr) | gnomAD v4 |
| 17 | g.58281005T>C | CA2638976027 | MPO | c.135A>G (p.Ser45=) | gnomAD v4 |
| 17 | g.58281006G>A | CA985008252 | MPO | c.134C>T (p.Ser45Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.58281006G= | CA2267634895 | MPO | c.134C= (p.Ser45=) | |
| 17 | g.58281006G>T | CA2638976028 | MPO | c.134C>A (p.Ser45Ter) | gnomAD v4 |
| 17 | g.58281007A= | CA2267634896 | MPO | c.133T= (p.Ser45=) | |
| 17 | g.58281007A>C | CA985008253 | MPO | c.133T>G (p.Ser45Ala) | dbSNP |
| 17 | g.58281008T>C | CA2638976030 | MPO | c.132A>G (p.Gly44=) | gnomAD v4 |
| 17 | g.58281009C>A | CA2638976033 | MPO | c.131G>T (p.Gly44Val) | gnomAD v4 |
| 17 | g.58281010C>A | CA2638976034 | MPO | c.130G>T (p.Gly44Ter) | gnomAD v4 |
| 17 | g.58281010C= | CA2267634897 | MPO | c.130G= (p.Gly44=) | |
| 17 | g.58281010C>T | CA2267634898 | MPO | c.130G>A (p.Gly44Arg) | dbSNP |
| 17 | g.58281011T>C | CA292020190 | MPO | c.129A>G (p.Pro43=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.58281011T= | CA2267634899 | MPO | c.129A= (p.Pro43=) | |
| 17 | g.58281012G>A | CA2638976036 | MPO | c.128C>T (p.Pro43Leu) | gnomAD v4 |
| 17 | g.58281012G>T | CA2638976038 | MPO | c.128C>A (p.Pro43Gln) | gnomAD v4 |
| 17 | g.58281015G>T | CA2638976039 | MPO | c.125C>A (p.Ser42Tyr) | gnomAD v4 |
| 17 | g.58281016A>G | CA2638976040 | MPO | c.124T>C (p.Ser42Pro) | gnomAD v4 |
| 17 | g.58281018T>A | CA2638976042 | MPO | c.122A>T (p.Gln41Leu) | gnomAD v4 |
| 17 | g.58281018T>C | CA2638976043 | MPO | c.122A>G (p.Gln41Arg) | gnomAD v4 |
| 17 | g.58281019G>T | CA2507207669 | MPO | c.121C>A (p.Gln41Lys) | gnomAD v4 |
| 17 | g.58281020A>G | CA2638976047 | MPO | c.120T>C (p.Val40=) | gnomAD v4 |
| 17 | g.58281022C= | CA2267634900 | MPO | c.118G= (p.Val40=) | |
| 17 | g.58281022C>G | CA773487673 | MPO | c.118G>C (p.Val40Leu) | dbSNP |
| 17 | g.58281022C>T | CA292020191 | MPO | c.118G>A (p.Val40Ile) | dbSNP gnomAD v4 |
| 17 | g.58281023T>A | CA292020219 | MPO | c.117A>T (p.Arg39Ser) | dbSNP |
| 17 | g.58281023T>C | CA2508452530 | MPO | c.117A>G (p.Arg39=) | dbSNP gnomAD v4 |
| 17 | g.58281023T= | CA2267634901 | MPO | c.117A= (p.Arg39=) | |
| 17 | g.58281024C>G | CA2638976056 | MPO | c.116G>C (p.Arg39Thr) | gnomAD v4 |
| 17 | g.58281024C>T | CA2638976057 | MPO | c.116G>A (p.Arg39Lys) | gnomAD v4 |
| 17 | g.58281025T>C | CA985008257 | MPO | c.115A>G (p.Arg39Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.58281025T= | CA2267634902 | MPO | c.115A= (p.Arg39=) | |
| 17 | g.58281026T>C | CA2638976060 | MPO | c.114A>G (p.Glu38=) | gnomAD v4 |
| 17 | g.58281027T>A | CA2638976061 | MPO | c.113A>T (p.Glu38Val) | gnomAD v4 |
| 17 | g.58281027T>C | CA2267634903 | MPO | c.113A>G (p.Glu38Gly) | dbSNP gnomAD v4 |
| 17 | g.58281027T= | CA2267634904 | MPO | c.113A= (p.Glu38=) |