Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.197009390C>A | CA2649657584 | CFHR5 | c.*707C>A (n.*707C>A) | gnomAD v4 |
1 | g.197009390C= | CA1217891140 | CFHR5 | c.*707C= (n.*707C=) | |
1 | g.197009390C>G | CA1217891141 | CFHR5 | c.*707C>G (n.*707C>G) | dbSNP |
1 | g.197009391A>G | CA2649657585 | CFHR5 | c.*708A>G (n.*708A>G) | gnomAD v4 |
1 | g.197009392G>T | CA2649657586 | CFHR5 | c.*709G>T (n.*709G>T) | gnomAD v4 |
1 | g.197009393T>C | CA1010886776 | CFHR5 | c.*710T>C (n.*710T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197009393T= | CA1217891142 | CFHR5 | c.*710T= (n.*710T=) | |
1 | g.197009394A= | CA1217891143 | CFHR5 | c.*711A= (n.*711A=) | |
1 | g.197009394A>G | CA1010886778 | CFHR5 | c.*711A>G (n.*711A>G) | dbSNP gnomAD v4 |
1 | g.197009396A= | CA1217891144 | CFHR5 | c.*713A= (n.*713A=) | |
1 | g.197009396A>G | CA1010886780 | CFHR5 | c.*713A>G (n.*713A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197009397T>C | CA1010886785 | CFHR5 | c.*714T>C (n.*714T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197009397T= | CA1217891145 | CFHR5 | c.*714T= (n.*714T=) | |
1 | g.197009401C>A | CA2649657587 | CFHR5 | c.*718C>A (n.*718C>A) | gnomAD v4 |
1 | g.197009403C= | CA1217891146 | CFHR5 | c.*720C= (n.*720C=) | |
1 | g.197009403C>T | CA729726669 | CFHR5 | c.*720C>T (n.*720C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197009404G>C | CA35851865 | CFHR5 | c.*721G>C (n.*721G>C) | dbSNP |
1 | g.197009404G= | CA1217891147 | CFHR5 | c.*721G= (n.*721G=) | |
1 | g.197009404G>T | CA2649657588 | CFHR5 | c.*721G>T (n.*721G>T) | gnomAD v4 |
1 | g.197009408C>A | CA2649657589 | CFHR5 | c.*725C>A (n.*725C>A) | gnomAD v4 |
1 | g.197009409A= | CA1217891148 | CFHR5 | c.*726A= (n.*726A=) | |
1 | g.197009409A>G | CA35851869 | CFHR5 | c.*726A>G (n.*726A>G) | dbSNP |
1 | g.197009410G>A | CA729726670 | CFHR5 | c.*727G>A (n.*727G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197009410G= | CA1217891149 | CFHR5 | c.*727G= (n.*727G=) | |
1 | g.197009410G>T | CA2649657590 | CFHR5 | c.*727G>T (n.*727G>T) | gnomAD v4 |
1 | g.197009411T>A | CA1010886793 | CFHR5 | c.*728T>A (n.*728T>A) | dbSNP |
1 | g.197009411T>C | CA1217891151 | CFHR5 | c.*728T>C (n.*728T>C) | dbSNP |
1 | g.197009411T= | CA1217891150 | CFHR5 | c.*728T= (n.*728T=) | |
1 | g.197009412_197009413delinsAC | CA1217891152 | CFHR5 | c.*729_*730delinsAC (n.*729_*730delinsAC) | |
1 | g.197009413del | CA916374540 | CFHR5 | c.*730del (n.*730del) | dbSNP |
1 | g.197009413C>T | CA2539021690 | CFHR5 | c.*730C>T (n.*730C>T) | |
1 | g.197009414T>C | CA2698075228 | CFHR5 | c.*731T>C (n.*731T>C) | dbSNP |
1 | g.197009415T>C | CA2649657591 | CFHR5 | c.*732T>C (n.*732T>C) | gnomAD v4 |
1 | g.197009416A>G | CA2649657592 | CFHR5 | c.*733A>G (n.*733A>G) | gnomAD v4 |
1 | g.197009417A= | CA1217891153 | CFHR5 | c.*734A= (n.*734A=) | |
1 | g.197009417A>C | CA35851870 | CFHR5 | c.*734A>C (n.*734A>C) | dbSNP |
1 | g.197009418T>C | CA35851873 | CFHR5 | c.*735T>C (n.*735T>C) | dbSNP |
1 | g.197009418T= | CA1217891154 | CFHR5 | c.*735T= (n.*735T=) | |
1 | g.197009424T>G | CA10609276 | CFHR5 | c.*741T>G (n.*741T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197009424T= | CA1141566516 | CFHR5 | c.*741T= (n.*741T=) | |
1 | g.197009425A>G | CA2649657593 | CFHR5 | c.*742A>G (n.*742A>G) | gnomAD v4 |
1 | g.197009426A>G | CA2649657594 | CFHR5 | c.*743A>G (n.*743A>G) | gnomAD v4 |
1 | g.197009428C>A | CA10608685 | CFHR5 | c.*745C>A (n.*745C>A) | ClinVar dbSNP gnomAD v4 |
1 | g.197009428C= | CA1217891155 | CFHR5 | c.*745C= (n.*745C=) | |
1 | g.197009428C>T | CA35851879 | CFHR5 | c.*745C>T (n.*745C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197009430del | CA2747237628 | CFHR5 | c.*747del (n.*747del) | |
1 | g.197009429C= | CA1217891156 | CFHR5 | c.*746C= (n.*746C=) | |
1 | g.197009429C>T | CA1010886805 | CFHR5 | c.*746C>T (n.*746C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197009431T>C | CA2649657595 | CFHR5 | c.*748T>C (n.*748T>C) | gnomAD v4 |
1 | g.197009432C>A | CA2649657596 | CFHR5 | c.*749C>A (n.*749C>A) | gnomAD v4 |
1 | g.197009433C= | CA1217891157 | CFHR5 | c.*750C= (n.*750C=) | |
1 | g.197009433C>G | CA729726678 | CFHR5 | c.*750C>G (n.*750C>G) | dbSNP |
1 | g.197009433C>T | CA2516014465 | CFHR5 | c.*750C>T (n.*750C>T) | |
1 | g.197009434T>C | CA35851880 | CFHR5 | c.*751T>C (n.*751T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197009434T= | CA1217891158 | CFHR5 | c.*751T= (n.*751T=) | |
1 | g.197009439G>A | CA1010886813 | CFHR5 | c.*756G>A (n.*756G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197009439G= | CA1217891159 | CFHR5 | c.*756G= (n.*756G=) | |
1 | g.197009439G>T | CA729726683 | CFHR5 | c.*756G>T (n.*756G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197009441C>A | CA2649657597 | CFHR5 | c.*758C>A (n.*758C>A) | gnomAD v4 |
1 | g.197009444A= | CA1217891160 | CFHR5 | c.*761A= (n.*761A=) | |
1 | g.197009444A>C | CA729726685 | CFHR5 | c.*761A>C (n.*761A>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197009446A= | CA1217891161 | CFHR5 | c.*763A= (n.*763A=) | |
1 | g.197009446A>T | CA528275492 | CFHR5 | c.*763A>T (n.*763A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197009449A= | CA1217891162 | CFHR5 | c.*766A= (n.*766A=) | |
1 | g.197009449A>G | CA35851881 | CFHR5 | c.*766A>G (n.*766A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197009450T>C | CA1010886821 | CFHR5 | c.*767T>C (n.*767T>C) | gnomAD v3 gnomAD v4 |
1 | g.197009452G= | CA1217891163 | CFHR5 | c.*769G= (n.*769G=) | |
1 | g.197009452G>T | CA35851884 | CFHR5 | c.*769G>T (n.*769G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197009453G>T | CA2649657598 | CFHR5 | c.*770G>T (n.*770G>T) | gnomAD v4 |
1 | g.197009454A= | CA1217891164 | CFHR5 | c.*771A= (n.*771A=) | |
1 | g.197009454A>G | CA1010886823 | CFHR5 | c.*771A>G (n.*771A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197009456A= | CA1217891165 | CFHR5 | c.*773A= (n.*773A=) | |
1 | g.197009456A>G | CA35851895 | CFHR5 | c.*773A>G (n.*773A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197009457A= | CA1217891166 | CFHR5 | c.*774A= (n.*774A=) | |
1 | g.197009457A>G | CA35851898 | CFHR5 | c.*774A>G (n.*774A>G) | dbSNP |
1 | g.197009458C>A | CA2649657599 | CFHR5 | c.*775C>A (n.*775C>A) | gnomAD v4 |
1 | g.197009458C= | CA1217891167 | CFHR5 | c.*775C= (n.*775C=) | |
1 | g.197009458C>G | CA35851905 | CFHR5 | c.*775C>G (n.*775C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197009463A= | CA1217891168 | CFHR5 | c.*780A= (n.*780A=) | |
1 | g.197009463A>C | CA528275493 | CFHR5 | c.*780A>C (n.*780A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197009467T>C | CA1217891170 | CFHR5 | c.*784T>C (n.*784T>C) | dbSNP |
1 | g.197009467T= | CA1217891169 | CFHR5 | c.*784T= (n.*784T=) | |
1 | g.197009475T>C | CA1217891172 | CFHR5 | c.*792T>C (n.*792T>C) | dbSNP |
1 | g.197009475T= | CA1217891171 | CFHR5 | c.*792T= (n.*792T=) | |
1 | g.197009476T>C | CA2526585106 | CFHR5 | c.*793T>C (n.*793T>C) | |
1 | g.197009478A>C | CA2649657600 | CFHR5 | c.*795A>C (n.*795A>C) | gnomAD v4 |
1 | g.197009479C>T | CA2649657601 | CFHR5 | c.*796C>T (n.*796C>T) | gnomAD v4 |
1 | g.197009480G>A | CA729726695 | CFHR5 | c.*797G>A (n.*797G>A) | dbSNP gnomAD v4 |
1 | g.197009480G= | CA1217891173 | CFHR5 | c.*797G= (n.*797G=) | |
1 | g.197009480G>T | CA2512774000 | CFHR5 | c.*797G>T (n.*797G>T) | gnomAD v4 |
1 | g.197009482T>C | CA2649657602 | CFHR5 | c.*799T>C (n.*799T>C) | gnomAD v4 |
1 | g.197009483A>T | CA2507172142 | CFHR5 | c.*800A>T (n.*800A>T) | |
1 | g.197009485T>A | CA2581699754 | CFHR5 | c.*802T>A (n.*802T>A) | |
1 | g.197009485T>C | CA2581699753 | CFHR5 | c.*802T>C (n.*802T>C) | |
1 | g.197009485T>G | CA10608679 | CFHR5 | c.*802T>G (n.*802T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197009485T= | CA1140226602 | CFHR5 | c.*802T= (n.*802T=) | |
1 | g.197009485_197009486insAAAAGGAAATGTAGATGTTATTTTGAAGATAGAGACTAAAATAACATCTACTTTCTGAATTAACTTTATG | CA1010886835 | CFHR5 | c.*802_*803insAAAAGGAAATGTAGATGTTATTTTGAAGATAGAGACTAAAATAACATCTACTTTCTGAATTAACTTTATG (n.*802_*803insAAAAGGAAATGTAGATGTTATTTTGAAGATAGAGACTAAAATAACATCTACTTTCTGAATTAACTTTATG) | gnomAD v3 gnomAD v4 |
1 | g.197009486T>C | CA2649657603 | CFHR5 | c.*803T>C (n.*803T>C) | gnomAD v4 |
1 | g.197009487_197009501del | CA2556852565 | CFHR5 | c.*804_*818del (n.*804_*818del) | |
1 | g.197009488A>G | CA2649657604 | CFHR5 | c.*805A>G (n.*805A>G) | gnomAD v4 |
1 | g.197009489A= | CA1146113802 | CFHR5 | c.*806A= (n.*806A=) | |
1 | g.197009489A>G | CA35851911 | CFHR5 | c.*806A>G (n.*806A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197009490A>G | CA2649657605 | CFHR5 | c.*807A>G (n.*807A>G) | gnomAD v4 |