Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
1 | g.197009492G>A | CA729726703 | CFHR5 | c.*809G>A (n.*809G>A) | dbSNP |
1 | g.197009492G= | CA1217891174 | CFHR5 | c.*809G= (n.*809G=) | |
1 | g.197009496T>A | CA35851915 | CFHR5 | c.*813T>A (n.*813T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197009496T= | CA1217891175 | CFHR5 | c.*813T= (n.*813T=) | |
1 | g.197009498T>C | CA35851918 | CFHR5 | c.*815T>C (n.*815T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197009498T= | CA1217891176 | CFHR5 | c.*815T= (n.*815T=) | |
1 | g.197009499A= | CA1217891177 | CFHR5 | c.*816A= (n.*816A=) | |
1 | g.197009499A>G | CA729726708 | CFHR5 | c.*816A>G (n.*816A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197009500G>A | CA729726709 | CFHR5 | c.*817G>A (n.*817G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197009500G= | CA1217891178 | CFHR5 | c.*817G= (n.*817G=) | |
1 | g.197009502T>C | CA35851925 | CFHR5 | c.*819T>C (n.*819T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197009502T= | CA1147919902 | CFHR5 | c.*819T= (n.*819T=) | |
1 | g.197009503G>A | CA1217891180 | CFHR5 | c.*820G>A (n.*820G>A) | dbSNP |
1 | g.197009503G= | CA1217891179 | CFHR5 | c.*820G= (n.*820G=) | |
1 | g.197009503G>T | CA2517171585 | CFHR5 | c.*820G>T (n.*820G>T) | |
1 | g.197009504T>C | CA2649657606 | CFHR5 | c.*821T>C (n.*821T>C) | gnomAD v4 |
1 | g.197009505T>G | CA2747237629 | CFHR5 | c.*822T>G (n.*822T>G) | |
1 | g.197009506A= | CA1217891181 | CFHR5 | c.*823A= (n.*823A=) | |
1 | g.197009506A>C | CA35851939 | CFHR5 | c.*823A>C (n.*823A>C) | dbSNP |
1 | g.197009506A>T | CA2528775070 | CFHR5 | c.*823A>T (n.*823A>T) | |
1 | g.197009506_197009507delinsAT | CA1217891182 | CFHR5 | c.*823_*824delinsAT (n.*823_*824delinsAT) | |
1 | g.197009510del | CA35851946 | CFHR5 | c.*827del (n.*827del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197009511_197009512del | CA2546424892 | CFHR5 | c.*828_*829del (n.*828_*829del) | |
1 | g.197009512G>A | CA35851952 | CFHR5 | c.*829G>A (n.*829G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197009512G= | CA1217891183 | CFHR5 | c.*829G= (n.*829G=) | |
1 | g.197009513T>A | CA1217891185 | CFHR5 | c.*830T>A (n.*830T>A) | dbSNP |
1 | g.197009513T= | CA1217891184 | CFHR5 | c.*830T= (n.*830T=) | |
1 | g.197009514C>T | CA2552764033 | CFHR5 | c.*831C>T (n.*831C>T) | |
1 | g.197009516C= | CA1217891186 | CFHR5 | c.*833C= (n.*833C=) | |
1 | g.197009516C>G | CA729726714 | CFHR5 | c.*833C>G (n.*833C>G) | dbSNP |
1 | g.197009516C>T | CA2536348537 | CFHR5 | c.*833C>T (n.*833C>T) | |
1 | g.197009518A= | CA1217891187 | CFHR5 | c.*835A= (n.*835A=) | |
1 | g.197009518A>G | CA35851955 | CFHR5 | c.*835A>G (n.*835A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197009518A>T | CA2566634537 | CFHR5 | c.*835A>T (n.*835A>T) | |
1 | g.197009519T>C | CA1010886844 | CFHR5 | c.*836T>C (n.*836T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197009519T= | CA1217891188 | CFHR5 | c.*836T= (n.*836T=) | |
1 | g.197009520C= | CA1217891189 | CFHR5 | c.*837C= (n.*837C=) | |
1 | g.197009520C>G | CA2747237630 | CFHR5 | c.*837C>G (n.*837C>G) | |
1 | g.197009520C>T | CA35851959 | CFHR5 | c.*837C>T (n.*837C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |