Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.159886423C>A | CA2648610979 | CFAP45 | c.767+88G>T (n.767+88G>T) c.512+88G>T (n.512+88G>T) | gnomAD v4 |
1 | g.159886425C>A | CA2648610981 | CFAP45 | c.767+86G>T (n.767+86G>T) c.512+86G>T (n.512+86G>T) | gnomAD v4 |
1 | g.159886425C>T | CA2648610982 | CFAP45 | c.767+86G>A (n.767+86G>A) c.512+86G>A (n.512+86G>A) | gnomAD v4 |
1 | g.159886426A= | CA1202094267 | CFAP45 | c.767+85T= (n.767+85T=) c.512+85T= (n.512+85T=) | |
1 | g.159886426A>C | CA31389706 | CFAP45 | c.767+85T>G (n.767+85T>G) c.512+85T>G (n.512+85T>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.159886426A>T | CA2648610983 | CFAP45 | c.767+85T>A (n.767+85T>A) c.512+85T>A (n.512+85T>A) | gnomAD v4 |
1 | g.159886427T>C | CA2648610984 | CFAP45 | c.767+84A>G (n.767+84A>G) c.512+84A>G (n.512+84A>G) | gnomAD v4 |
1 | g.159886427_159886428delinsTC | CA1202094268 | CFAP45 | c.767+83_767+84delinsGA (n.767+83_767+84delinsGA) c.512+83_512+84delinsGA (n.512+83_512+84delinsGA) | |
1 | g.159886427_159886434delinsTCTCTTCC | CA1202094269 | CFAP45 | c.767+77_767+84delinsGGAAGAGA (n.767+77_767+84delinsGGAAGAGA) c.512+77_512+84delinsGGAAGAGA (n.512+77_512+84delinsGGAAGAGA) | |
1 | g.159886428del | CA1202094270 | CFAP45 | c.767+83del (n.767+83del) c.512+83del (n.512+83del) | dbSNP |
1 | g.159886428C>T | CA2648610986 | CFAP45 | c.767+83G>A (n.767+83G>A) c.512+83G>A (n.512+83G>A) | gnomAD v4 |
1 | g.159886433_159886439del | CA31389709 | CFAP45 | c.767+77_767+83del (n.767+77_767+83del) c.512+77_512+83del (n.512+77_512+83del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.159886430C>A | CA1008314352 | CFAP45 | c.767+81G>T (n.767+81G>T) c.512+81G>T (n.512+81G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.159886430C= | CA1202094271 | CFAP45 | c.767+81G= (n.767+81G=) c.512+81G= (n.512+81G=) | |
1 | g.159886430C>T | CA31389712 | CFAP45 | c.767+81G>A (n.767+81G>A) c.512+81G>A (n.512+81G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.159886431T>C | CA2648610991 | CFAP45 | c.767+80A>G (n.767+80A>G) c.512+80A>G (n.512+80A>G) | gnomAD v4 |
1 | g.159886431T>G | CA2648610992 | CFAP45 | c.767+80A>C (n.767+80A>C) c.512+80A>C (n.512+80A>C) | gnomAD v4 |
1 | g.159886432T>A | CA2573933842 | CFAP45 | c.767+79A>T (n.767+79A>T) c.512+79A>T (n.512+79A>T) | |
1 | g.159886433C>A | CA2648610995 | CFAP45 | c.767+78G>T (n.767+78G>T) c.512+78G>T (n.512+78G>T) | gnomAD v4 |
1 | g.159886433C>T | CA2648610994 | CFAP45 | c.767+78G>A (n.767+78G>A) c.512+78G>A (n.512+78G>A) | gnomAD v4 |
1 | g.159886434C= | CA1202094272 | CFAP45 | c.767+77G= (n.767+77G=) c.512+77G= (n.512+77G=) | |
1 | g.159886434C>T | CA1202094273 | CFAP45 | c.767+77G>A (n.767+77G>A) c.512+77G>A (n.512+77G>A) | dbSNP |
1 | g.159886436T>C | CA2648610996 | CFAP45 | c.767+75A>G (n.767+75A>G) c.512+75A>G (n.512+75A>G) | gnomAD v4 |
1 | g.159886438T>C | CA890055341 | CFAP45 | c.767+73A>G (n.767+73A>G) c.512+73A>G (n.512+73A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.159886438T= | CA1202094274 | CFAP45 | c.767+73A= (n.767+73A=) c.512+73A= (n.512+73A=) | |
1 | g.159886440del | CA2648610998 | CFAP45 | c.767+73del (n.767+73del) c.512+73del (n.512+73del) | gnomAD v4 |
1 | g.159886440T>C | CA31389713 | CFAP45 | c.767+71A>G (n.767+71A>G) c.512+71A>G (n.512+71A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.159886440T= | CA1147616542 | CFAP45 | c.767+71A= (n.767+71A=) c.512+71A= (n.512+71A=) | |
1 | g.159886441G>A | CA2648611001 | CFAP45 | c.767+70C>T (n.767+70C>T) c.512+70C>T (n.512+70C>T) | gnomAD v4 |
1 | g.159886441G>T | CA2648611002 | CFAP45 | c.767+70C>A (n.767+70C>A) c.512+70C>A (n.512+70C>A) | gnomAD v4 |
1 | g.159886442C>T | CA2573933844 | CFAP45 | c.767+69G>A (n.767+69G>A) c.512+69G>A (n.512+69G>A) | gnomAD v4 |
1 | g.159886443T>C | CA2648611003 | CFAP45 | c.767+68A>G (n.767+68A>G) c.512+68A>G (n.512+68A>G) | gnomAD v4 |
1 | g.159886444A>C | CA2573933845 | CFAP45 | c.767+67T>G (n.767+67T>G) c.512+67T>G (n.512+67T>G) | |
1 | g.159886444A>G | CA2573933846 | CFAP45 | c.767+67T>C (n.767+67T>C) c.512+67T>C (n.512+67T>C) | gnomAD v4 |
1 | g.159886444A>T | CA2648611004 | CFAP45 | c.767+67T>A (n.767+67T>A) c.512+67T>A (n.512+67T>A) | gnomAD v4 |
1 | g.159886445G>T | CA2648611005 | CFAP45 | c.767+66C>A (n.767+66C>A) c.512+66C>A (n.512+66C>A) | gnomAD v4 |
1 | g.159886446G>A | CA890055350 | CFAP45 | c.767+65C>T (n.767+65C>T) c.512+65C>T (n.512+65C>T) | dbSNP gnomAD v4 |
1 | g.159886446G= | CA1202094275 | CFAP45 | c.767+65C= (n.767+65C=) c.512+65C= (n.512+65C=) | |
1 | g.159886447C>A | CA2648611006 | CFAP45 | c.767+64G>T (n.767+64G>T) c.512+64G>T (n.512+64G>T) | gnomAD v4 |
1 | g.159886448T>C | CA2573933847 | CFAP45 | c.767+63A>G (n.767+63A>G) c.512+63A>G (n.512+63A>G) | |
1 | g.159886449A>T | CA2573933848 | CFAP45 | c.767+62T>A (n.767+62T>A) c.512+62T>A (n.512+62T>A) | gnomAD v4 |
1 | g.159886450C>A | CA890055361 | CFAP45 | c.767+61G>T (n.767+61G>T) c.512+61G>T (n.512+61G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.159886450C= | CA1202094276 | CFAP45 | c.767+61G= (n.767+61G=) c.512+61G= (n.512+61G=) | |
1 | g.159886451A>G | CA2648611007 | CFAP45 | c.767+60T>C (n.767+60T>C) c.512+60T>C (n.512+60T>C) | gnomAD v4 |
1 | g.159886453G>T | CA2573933849 | CFAP45 | c.767+58C>A (n.767+58C>A) c.512+58C>A (n.512+58C>A) | |
1 | g.159886454G>T | CA2573933918 | CFAP45 | c.767+57C>A (n.767+57C>A) c.512+57C>A (n.512+57C>A) | |
1 | g.159886456C>A | CA2648611008 | CFAP45 | c.767+55G>T (n.767+55G>T) c.512+55G>T (n.512+55G>T) | gnomAD v4 |
1 | g.159886457C>A | CA2648611010 | CFAP45 | c.767+54G>T (n.767+54G>T) c.512+54G>T (n.512+54G>T) | gnomAD v4 |
1 | g.159886459A>G | CA2505057401 | CFAP45 | c.767+52T>C (n.767+52T>C) c.512+52T>C (n.512+52T>C) | gnomAD v4 |
1 | g.159886461del | CA2573933928 | CFAP45 | c.767+52del (n.767+52del) c.512+52del (n.512+52del) | |
1 | g.159886461A= | CA1202094277 | CFAP45 | c.767+50T= (n.767+50T=) c.512+50T= (n.512+50T=) | |
1 | g.159886461A>C | CA526677629 | CFAP45 | c.767+50T>G (n.767+50T>G) c.512+50T>G (n.512+50T>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.159886462_159886467del | CA2648611012 | CFAP45 | c.767+45_767+50del (n.767+45_767+50del) c.512+45_512+50del (n.512+45_512+50del) | gnomAD v4 |
1 | g.159886462G>T | CA2648611015 | CFAP45 | c.767+49C>A (n.767+49C>A) c.512+49C>A (n.512+49C>A) | gnomAD v4 |
1 | g.159886463A>G | CA2648611017 | CFAP45 | c.767+48T>C (n.767+48T>C) c.512+48T>C (n.512+48T>C) | gnomAD v4 |
1 | g.159886464T>C | CA2648611019 | CFAP45 | c.767+47A>G (n.767+47A>G) c.512+47A>G (n.512+47A>G) | gnomAD v4 |
1 | g.159886465A>G | CA2544425588 | CFAP45 | c.767+46T>C (n.767+46T>C) c.512+46T>C (n.512+46T>C) | gnomAD v4 |
1 | g.159886465A>T | CA2573933932 | CFAP45 | c.767+46T>A (n.767+46T>A) c.512+46T>A (n.512+46T>A) | |
1 | g.159886466C>A | CA2648611022 | CFAP45 | c.767+45G>T (n.767+45G>T) c.512+45G>T (n.512+45G>T) | gnomAD v4 |
1 | g.159886466C= | CA1202094278 | CFAP45 | c.767+45G= (n.767+45G=) c.512+45G= (n.512+45G=) | |
1 | g.159886466C>T | CA1202094279 | CFAP45 | c.767+45G>A (n.767+45G>A) c.512+45G>A (n.512+45G>A) | dbSNP |
1 | g.159886467A>G | CA2573933943 | CFAP45 | c.767+44T>C (n.767+44T>C) c.512+44T>C (n.512+44T>C) | |
1 | g.159886468T>C | CA2648611023 | CFAP45 | c.767+43A>G (n.767+43A>G) c.512+43A>G (n.512+43A>G) | gnomAD v4 |
1 | g.159886469G>T | CA2648611025 | CFAP45 | c.767+42C>A (n.767+42C>A) c.512+42C>A (n.512+42C>A) | gnomAD v4 |
1 | g.159886470G>T | CA2648611027 | CFAP45 | c.767+41C>A (n.767+41C>A) c.512+41C>A (n.512+41C>A) | gnomAD v4 |
1 | g.159886474T>C | CA526677630 | CFAP45 | c.767+37A>G (n.767+37A>G) c.512+37A>G (n.512+37A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.159886474T= | CA1202094280 | CFAP45 | c.767+37A= (n.767+37A=) c.512+37A= (n.512+37A=) | |
1 | g.159886475A>G | CA2648611031 | CFAP45 | c.767+36T>C (n.767+36T>C) c.512+36T>C (n.512+36T>C) | gnomAD v4 |
1 | g.159886476G>T | CA2648611034 | CFAP45 | c.767+35C>A (n.767+35C>A) c.512+35C>A (n.512+35C>A) | gnomAD v4 |
1 | g.159886477C= | CA1143530546 | CFAP45 | c.767+34G= (n.767+34G=) c.512+34G= (n.512+34G=) | |
1 | g.159886477C>T | CA31389716 | CFAP45 | c.767+34G>A (n.767+34G>A) c.512+34G>A (n.512+34G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.159886481G>A | CA1191049 | CFAP45 | c.767+30C>T (n.767+30C>T) c.512+30C>T (n.512+30C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.159886481G= | CA1202094281 | CFAP45 | c.767+30C= (n.767+30C=) c.512+30C= (n.512+30C=) | |
1 | g.159886482A>G | CA2648611036 | CFAP45 | c.767+29T>C (n.767+29T>C) c.512+29T>C (n.512+29T>C) | gnomAD v4 |
1 | g.159886483G>A | CA1008314365 | CFAP45 | c.767+28C>T (n.767+28C>T) c.512+28C>T (n.512+28C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.159886483G= | CA1202094282 | CFAP45 | c.767+28C= (n.767+28C=) c.512+28C= (n.512+28C=) | |
1 | g.159886484A= | CA1202094283 | CFAP45 | c.767+27T= (n.767+27T=) c.512+27T= (n.512+27T=) | |
1 | g.159886484A>T | CA890055372 | CFAP45 | c.767+27T>A (n.767+27T>A) c.512+27T>A (n.512+27T>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.159886485G>A | CA31389720 | CFAP45 | c.767+26C>T (n.767+26C>T) c.512+26C>T (n.512+26C>T) | dbSNP |
1 | g.159886485G= | CA1148349325 | CFAP45 | c.767+26C= (n.767+26C=) c.512+26C= (n.512+26C=) | |
1 | g.159886486G>A | CA1202094285 | CFAP45 | c.767+25C>T (n.767+25C>T) c.512+25C>T (n.512+25C>T) | dbSNP gnomAD v4 |
1 | g.159886486G= | CA1202094284 | CFAP45 | c.767+25C= (n.767+25C=) c.512+25C= (n.512+25C=) | |
1 | g.159886487G>A | CA890055379 | CFAP45 | c.767+24C>T (n.767+24C>T) c.512+24C>T (n.512+24C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.159886487G= | CA1202094286 | CFAP45 | c.767+24C= (n.767+24C=) c.512+24C= (n.512+24C=) | |
1 | g.159886488A= | CA1202094287 | CFAP45 | c.767+23T= (n.767+23T=) c.512+23T= (n.512+23T=) | |
1 | g.159886488A>C | CA2648611040 | CFAP45 | c.767+23T>G (n.767+23T>G) c.512+23T>G (n.512+23T>G) | gnomAD v4 |
1 | g.159886488A>T | CA526677631 | CFAP45 | c.767+23T>A (n.767+23T>A) c.512+23T>A (n.512+23T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.159886489G>A | CA526677632 | CFAP45 | c.767+22C>T (n.767+22C>T) c.512+22C>T (n.512+22C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.159886489G>C | CA526677633 | CFAP45 | c.767+22C>G (n.767+22C>G) c.512+22C>G (n.512+22C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.159886489G= | CA1202094288 | CFAP45 | c.767+22C= (n.767+22C=) c.512+22C= (n.512+22C=) | |
1 | g.159886491T>C | CA890055396 | CFAP45 | c.767+20A>G (n.767+20A>G) c.512+20A>G (n.512+20A>G) | dbSNP gnomAD v4 |
1 | g.159886491T= | CA1202094289 | CFAP45 | c.767+20A= (n.767+20A=) c.512+20A= (n.512+20A=) | |
1 | g.159886492G>A | CA1008314368 | CFAP45 | c.767+19C>T (n.767+19C>T) c.512+19C>T (n.512+19C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.159886492G= | CA1202094290 | CFAP45 | c.767+19C= (n.767+19C=) c.512+19C= (n.512+19C=) | |
1 | g.159886493C= | CA1202094291 | CFAP45 | c.767+18G= (n.767+18G=) c.512+18G= (n.512+18G=) | |
1 | g.159886493C>T | CA31389722 | CFAP45 | c.767+18G>A (n.767+18G>A) c.512+18G>A (n.512+18G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.159886494C= | CA1202094292 | CFAP45 | c.767+17G= (n.767+17G=) c.512+17G= (n.512+17G=) | |
1 | g.159886494C>T | CA526677634 | CFAP45 | c.767+17G>A (n.767+17G>A) c.512+17G>A (n.512+17G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.159886499C>A | CA1202094294 | CFAP45 | c.767+12G>T (n.767+12G>T) c.512+12G>T (n.512+12G>T) | dbSNP |
1 | g.159886499C= | CA1202094293 | CFAP45 | c.767+12G= (n.767+12G=) c.512+12G= (n.512+12G=) | |
1 | g.159886500C>A | CA2746331634 | CFAP45 | c.767+11G>T (n.767+11G>T) c.512+11G>T (n.512+11G>T) | |
1 | g.159886500C= | CA1202094295 | CFAP45 | c.767+11G= (n.767+11G=) c.512+11G= (n.512+11G=) | |
1 | g.159886500C>T | CA1202094296 | CFAP45 | c.767+11G>A (n.767+11G>A) c.512+11G>A (n.512+11G>A) | dbSNP gnomAD v4 |
1 | g.159886501A= | CA1202094297 | CFAP45 | c.767+10T= (n.767+10T=) c.512+10T= (n.512+10T=) | |
1 | g.159886501A>G | CA890055401 | CFAP45 | c.767+10T>C (n.767+10T>C) c.512+10T>C (n.512+10T>C) | dbSNP |
1 | g.159886503A= | CA1202094298 | CFAP45 | c.767+8T= (n.767+8T=) c.512+8T= (n.512+8T=) | |
1 | g.159886503A>G | CA1191050 | CFAP45 | c.767+8T>C (n.767+8T>C) c.512+8T>C (n.512+8T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.159886504T>A | CA2648611048 | CFAP45 | c.767+7A>T (n.767+7A>T) c.512+7A>T (n.512+7A>T) | gnomAD v4 |
1 | g.159886506T>C | CA2648611050 | CFAP45 | c.767+5A>G (n.767+5A>G) c.512+5A>G (n.512+5A>G) | gnomAD v4 |
1 | g.159886507T>C | CA2573933950 | CFAP45 | c.767+4A>G (n.767+4A>G) c.512+4A>G (n.512+4A>G) | |
1 | g.159886509A>C | CA343219617 | CFAP45 | c.767+2T>G (n.767+2T>G) c.512+2T>G (n.512+2T>G) | |
1 | g.159886509A>G | CA343219621 | CFAP45 | c.767+2T>C (n.767+2T>C) c.512+2T>C (n.512+2T>C) | |
1 | g.159886509A>T | CA343219619 | CFAP45 | c.767+2T>A (n.767+2T>A) c.512+2T>A (n.512+2T>A) | |
1 | g.159886510C>A | CA343219623 | CFAP45 | c.767+1G>T (n.767+1G>T) c.512+1G>T (n.512+1G>T) | |
1 | g.159886510C= | CA1202094299 | CFAP45 | c.767+1G= (n.767+1G=) c.512+1G= (n.512+1G=) | |
1 | g.159886510C>G | CA343219625 | CFAP45 | c.767+1G>C (n.767+1G>C) c.512+1G>C (n.512+1G>C) | |
1 | g.159886510C>T | CA343219626 | CFAP45 | c.767+1G>A (n.767+1G>A) c.512+1G>A (n.512+1G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.159886511C>A | CA343219628 | CFAP45 | c.767G>T (p.Arg256Ile) c.512G>T (p.Arg171Ile) | dbSNP |
1 | g.159886511C= | CA1202094300 | CFAP45 | c.767G= (p.Arg256=) c.512G= (p.Arg171=) | |
1 | g.159886511C>G | CA343219630 | CFAP45 | c.767G>C (p.Arg256Thr) c.512G>C (p.Arg171Thr) | |
1 | g.159886511C>T | CA343219631 | CFAP45 | c.767G>A (p.Arg256Lys) c.512G>A (p.Arg171Lys) | |
1 | g.159886512T>A | CA343219633 | CFAP45 | c.766A>T (p.Arg256Ter) c.511A>T (p.Arg171Ter) | |
1 | g.159886512T>C | CA343219634 | CFAP45 | c.766A>G (p.Arg256Gly) c.511A>G (p.Arg171Gly) | |
1 | g.159886512T>G | CA421350572 | CFAP45 | c.766A>C (p.Arg256=) c.511A>C (p.Arg171=) | |
1 | g.159886513A>C | CA343219636 | CFAP45 | c.765T>G (p.Ile255Met) c.510T>G (p.Ile170Met) | |
1 | g.159886513A>G | CA421350574 | CFAP45 | c.765T>C (p.Ile255=) c.510T>C (p.Ile170=) | |
1 | g.159886513A>T | CA421350573 | CFAP45 | c.765T>A (p.Ile255=) c.510T>A (p.Ile170=) | |
1 | g.159886514A>C | CA343219637 | CFAP45 | c.764T>G (p.Ile255Ser) c.509T>G (p.Ile170Ser) | |
1 | g.159886514A>G | CA343219638 | CFAP45 | c.764T>C (p.Ile255Thr) c.509T>C (p.Ile170Thr) | |
1 | g.159886514A>T | CA343219640 | CFAP45 | c.764T>A (p.Ile255Asn) c.509T>A (p.Ile170Asn) | |
1 | g.159886515T>A | CA343219646 | CFAP45 | c.763A>T (p.Ile255Phe) c.508A>T (p.Ile170Phe) | |
1 | g.159886515T>C | CA343219643 | CFAP45 | c.763A>G (p.Ile255Val) c.508A>G (p.Ile170Val) | |
1 | g.159886515T>G | CA343219645 | CFAP45 | c.763A>C (p.Ile255Leu) c.508A>C (p.Ile170Leu) | gnomAD v4 |
1 | g.159886516T>A | CA343219649 | CFAP45 | c.762A>T (p.Arg254Ser) c.507A>T (p.Arg169Ser) | |
1 | g.159886516T>C | CA421350576 | CFAP45 | c.762A>G (p.Arg254=) c.507A>G (p.Arg169=) | |
1 | g.159886516T>G | CA343219650 | CFAP45 | c.762A>C (p.Arg254Ser) c.507A>C (p.Arg169Ser) | |
1 | g.159886516T= | CA1202094301 | CFAP45 | c.762A= (p.Arg254=) c.507A= (p.Arg169=) | |
1 | g.159886516_159886517insTTGTGTGTACATGTATAAGTGAGTTTTATGGAGGAGAGGGC | CA1191051 | CFAP45 | c.761_762insGCCCTCTCCTCCATAAAACTCACTTATACATGTACACACAA (p.Ile255ProfsTer5) c.506_507insGCCCTCTCCTCCATAAAACTCACTTATACATGTACACACAA (p.Ile170ProfsTer5) | dbSNP ExAC gnomAD v2 |
1 | g.159886517C>A | CA1191052 | CFAP45 | c.761G>T (p.Arg254Ile) c.506G>T (p.Arg169Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.159886517C= | CA1148476085 | CFAP45 | c.761G= (p.Arg254=) c.506G= (p.Arg169=) | |
1 | g.159886517C>G | CA343219653 | CFAP45 | c.761G>C (p.Arg254Thr) c.506G>C (p.Arg169Thr) | |
1 | g.159886517C>T | CA343219655 | CFAP45 | c.761G>A (p.Arg254Lys) c.506G>A (p.Arg169Lys) | |
1 | g.159886518T>A | CA343219657 | CFAP45 | c.760A>T (p.Arg254Ter) c.505A>T (p.Arg169Ter) | |
1 | g.159886518T>C | CA343219659 | CFAP45 | c.760A>G (p.Arg254Gly) c.505A>G (p.Arg169Gly) | |
1 | g.159886518T>G | CA1191053 | CFAP45 | c.760A>C (p.Arg254=) c.505A>C (p.Arg169=) | dbSNP ExAC gnomAD v2 |
1 | g.159886518T= | CA1202094302 | CFAP45 | c.760A= (p.Arg254=) c.505A= (p.Arg169=) | |
1 | g.159886519T>A | CA343219660 | CFAP45 | c.759A>T (p.Glu253Asp) c.504A>T (p.Glu168Asp) | |
1 | g.159886519T>C | CA421350577 | CFAP45 | c.759A>G (p.Glu253=) c.504A>G (p.Glu168=) | |
1 | g.159886519T>G | CA343219662 | CFAP45 | c.759A>C (p.Glu253Asp) c.504A>C (p.Glu168Asp) | |
1 | g.159886520T>A | CA343219668 | CFAP45 | c.758A>T (p.Glu253Val) c.503A>T (p.Glu168Val) | |
1 | g.159886520T>C | CA343219666 | CFAP45 | c.758A>G (p.Glu253Gly) c.503A>G (p.Glu168Gly) | dbSNP |
1 | g.159886520T>G | CA343219664 | CFAP45 | c.758A>C (p.Glu253Ala) c.503A>C (p.Glu168Ala) | |
1 | g.159886520T= | CA1202094303 | CFAP45 | c.758A= (p.Glu253=) c.503A= (p.Glu168=) | |
1 | g.159886521C>A | CA343219669 | CFAP45 | c.757G>T (p.Glu253Ter) c.502G>T (p.Glu168Ter) | |
1 | g.159886521C= | CA1202094304 | CFAP45 | c.757G= (p.Glu253=) c.502G= (p.Glu168=) | |
1 | g.159886521C>G | CA1191054 | CFAP45 | c.757G>C (p.Glu253Gln) c.502G>C (p.Glu168Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.159886521C>T | CA343219671 | CFAP45 | c.757G>A (p.Glu253Lys) c.502G>A (p.Glu168Lys) | |
1 | g.159886522C>A | CA343219673 | CFAP45 | c.756G>T (p.Glu252Asp) c.501G>T (p.Glu167Asp) | |
1 | g.159886522C= | CA1202094305 | CFAP45 | c.756G= (p.Glu252=) c.501G= (p.Glu167=) | |
1 | g.159886522C>G | CA343219674 | CFAP45 | c.756G>C (p.Glu252Asp) c.501G>C (p.Glu167Asp) | dbSNP gnomAD v4 |
1 | g.159886522C>T | CA421350579 | CFAP45 | c.756G>A (p.Glu252=) c.501G>A (p.Glu167=) | |
1 | g.159886523T>A | CA343219676 | CFAP45 | c.755A>T (p.Glu252Val) c.500A>T (p.Glu167Val) | |
1 | g.159886523T>C | CA343219678 | CFAP45 | c.755A>G (p.Glu252Gly) c.500A>G (p.Glu167Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.159886523T>G | CA343219679 | CFAP45 | c.755A>C (p.Glu252Ala) c.500A>C (p.Glu167Ala) | |
1 | g.159886523T= | CA1202094306 | CFAP45 | c.755A= (p.Glu252=) c.500A= (p.Glu167=) |