Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
1 | g.159886524C>A | CA343219681 | CFAP45 | c.754G>T (p.Glu252Ter) c.499G>T (p.Glu167Ter) | |
1 | g.159886524C>G | CA343219682 | CFAP45 | c.754G>C (p.Glu252Gln) c.499G>C (p.Glu167Gln) | gnomAD v4 |
1 | g.159886524C>T | CA343219684 | CFAP45 | c.754G>A (p.Glu252Lys) c.499G>A (p.Glu167Lys) | |
1 | g.159886525C>A | CA343219685 | CFAP45 | c.753G>T (p.Arg251Ser) c.498G>T (p.Arg166Ser) | |
1 | g.159886525C>G | CA343219687 | CFAP45 | c.753G>C (p.Arg251Ser) c.498G>C (p.Arg166Ser) | gnomAD v4 |
1 | g.159886525C>T | CA421350581 | CFAP45 | c.753G>A (p.Arg251=) c.498G>A (p.Arg166=) | |
1 | g.159886526C>A | CA343219691 | CFAP45 | c.752G>T (p.Arg251Met) c.497G>T (p.Arg166Met) | gnomAD v4 |
1 | g.159886526C>G | CA343219689 | CFAP45 | c.752G>C (p.Arg251Thr) c.497G>C (p.Arg166Thr) | |
1 | g.159886526C>T | CA343219690 | CFAP45 | c.752G>A (p.Arg251Lys) c.497G>A (p.Arg166Lys) | gnomAD v4 |
1 | g.159886527T>A | CA343219692 | CFAP45 | c.751A>T (p.Arg251Trp) c.496A>T (p.Arg166Trp) | |
1 | g.159886527T>C | CA1191055 | CFAP45 | c.751A>G (p.Arg251Gly) c.496A>G (p.Arg166Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.159886527T>G | CA421350582 | CFAP45 | c.751A>C (p.Arg251=) c.496A>C (p.Arg166=) | |
1 | g.159886527T= | CA1149054356 | CFAP45 | c.751A= (p.Arg251=) c.496A= (p.Arg166=) | |
1 | g.159886527dup | CA2573933994 | CFAP45 | c.751dup (p.Arg251LysfsTer6) c.496dup (p.Arg166LysfsTer6) | |
1 | g.159886528C>A | CA343219695 | CFAP45 | c.750G>T (p.Arg250Ser) c.495G>T (p.Arg165Ser) | |
1 | g.159886528C>G | CA343219697 | CFAP45 | c.750G>C (p.Arg250Ser) c.495G>C (p.Arg165Ser) | |
1 | g.159886528C>T | CA421350584 | CFAP45 | c.750G>A (p.Arg250=) c.495G>A (p.Arg165=) | gnomAD v4 |
1 | g.159886529C>A | CA343219699 | CFAP45 | c.749G>T (p.Arg250Met) c.494G>T (p.Arg165Met) | |
1 | g.159886529C>G | CA343219700 | CFAP45 | c.749G>C (p.Arg250Thr) c.494G>C (p.Arg165Thr) | |
1 | g.159886529C>T | CA343219701 | CFAP45 | c.749G>A (p.Arg250Lys) c.494G>A (p.Arg165Lys) | gnomAD v4 |
1 | g.159886530T>A | CA343219703 | CFAP45 | c.748A>T (p.Arg250Trp) c.493A>T (p.Arg165Trp) | |
1 | g.159886530T>C | CA343219705 | CFAP45 | c.748A>G (p.Arg250Gly) c.493A>G (p.Arg165Gly) | |
1 | g.159886530T>G | CA421350586 | CFAP45 | c.748A>C (p.Arg250=) c.493A>C (p.Arg165=) | |
1 | g.159886531C>A | CA343219707 | CFAP45 | c.747G>T (p.Lys249Asn) c.492G>T (p.Lys164Asn) | |
1 | g.159886531C= | CA1202094307 | CFAP45 | c.747G= (p.Lys249=) c.492G= (p.Lys164=) | |
1 | g.159886531C>G | CA343219709 | CFAP45 | c.747G>C (p.Lys249Asn) c.492G>C (p.Lys164Asn) | |
1 | g.159886531C>T | CA1191056 | CFAP45 | c.747G>A (p.Lys249=) c.492G>A (p.Lys164=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.159886532T>A | CA31389741 | CFAP45 | c.746A>T (p.Lys249Met) c.491A>T (p.Lys164Met) | dbSNP |
1 | g.159886532T>C | CA1191057 | CFAP45 | c.746A>G (p.Lys249Arg) c.491A>G (p.Lys164Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.159886532T>G | CA343219716 | CFAP45 | c.746A>C (p.Lys249Thr) c.491A>C (p.Lys164Thr) | |
1 | g.159886532T= | CA1143403877 | CFAP45 | c.746A= (p.Lys249=) c.491A= (p.Lys164=) | |
1 | g.159886533T>A | CA343219720 | CFAP45 | c.745A>T (p.Lys249Ter) c.490A>T (p.Lys164Ter) | |
1 | g.159886533T>C | CA343219724 | CFAP45 | c.745A>G (p.Lys249Glu) c.490A>G (p.Lys164Glu) | |
1 | g.159886533T>G | CA343219722 | CFAP45 | c.745A>C (p.Lys249Gln) c.490A>C (p.Lys164Gln) | |
1 | g.159886534C>A | CA343219725 | CFAP45 | c.744G>T (p.Arg248Ser) c.489G>T (p.Arg163Ser) | |
1 | g.159886534C>G | CA343219727 | CFAP45 | c.744G>C (p.Arg248Ser) c.489G>C (p.Arg163Ser) | |
1 | g.159886534C>T | CA421350588 | CFAP45 | c.744G>A (p.Arg248=) c.489G>A (p.Arg163=) | gnomAD v4 |
1 | g.159886535C>A | CA343219730 | CFAP45 | c.743G>T (p.Arg248Met) c.488G>T (p.Arg163Met) | |
1 | g.159886535C= | CA1202094308 | CFAP45 | c.743G= (p.Arg248=) c.488G= (p.Arg163=) | |
1 | g.159886535C>G | CA343219731 | CFAP45 | c.743G>C (p.Arg248Thr) c.488G>C (p.Arg163Thr) | |
1 | g.159886535C>T | CA343219733 | CFAP45 | c.743G>A (p.Arg248Lys) c.488G>A (p.Arg163Lys) | dbSNP gnomAD v4 |
1 | g.159886536T>A | CA343219736 | CFAP45 | c.742A>T (p.Arg248Trp) c.487A>T (p.Arg163Trp) | |
1 | g.159886536T>C | CA343219737 | CFAP45 | c.742A>G (p.Arg248Gly) c.487A>G (p.Arg163Gly) | |
1 | g.159886536T>G | CA421350589 | CFAP45 | c.742A>C (p.Arg248=) c.487A>C (p.Arg163=) | |
1 | g.159886537C>A | CA343219738 | CFAP45 | c.741G>T (p.Glu247Asp) c.486G>T (p.Glu162Asp) | |
1 | g.159886537C= | CA1202094309 | CFAP45 | c.741G= (p.Glu247=) c.486G= (p.Glu162=) | |
1 | g.159886537C>G | CA343219739 | CFAP45 | c.741G>C (p.Glu247Asp) c.486G>C (p.Glu162Asp) | dbSNP gnomAD v4 |
1 | g.159886537C>T | CA421350591 | CFAP45 | c.741G>A (p.Glu247=) c.486G>A (p.Glu162=) | gnomAD v4 |
1 | g.159886538T>A | CA343219740 | CFAP45 | c.740A>T (p.Glu247Val) c.485A>T (p.Glu162Val) | |
1 | g.159886538T>C | CA343219741 | CFAP45 | c.740A>G (p.Glu247Gly) c.485A>G (p.Glu162Gly) | gnomAD v4 |
1 | g.159886538T>G | CA343219742 | CFAP45 | c.740A>C (p.Glu247Ala) c.485A>C (p.Glu162Ala) | |
1 | g.159886539C>A | CA343219744 | CFAP45 | c.739G>T (p.Glu247Ter) c.484G>T (p.Glu162Ter) | |
1 | g.159886539C= | CA1202094310 | CFAP45 | c.739G= (p.Glu247=) c.484G= (p.Glu162=) | |
1 | g.159886539C>G | CA1191058 | CFAP45 | c.739G>C (p.Glu247Gln) c.484G>C (p.Glu162Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.159886539C>T | CA343219743 | CFAP45 | c.739G>A (p.Glu247Lys) c.484G>A (p.Glu162Lys) | |
1 | g.159886540C>A | CA421350592 | CFAP45 | c.738G>T (p.Leu246=) c.483G>T (p.Leu161=) | |
1 | g.159886540C>G | CA421350593 | CFAP45 | c.738G>C (p.Leu246=) c.483G>C (p.Leu161=) | |
1 | g.159886540C>T | CA421350594 | CFAP45 | c.738G>A (p.Leu246=) c.483G>A (p.Leu161=) | |
1 | g.159886541A>C | CA343219745 | CFAP45 | c.737T>G (p.Leu246Arg) c.482T>G (p.Leu161Arg) | |
1 | g.159886541A>G | CA343219746 | CFAP45 | c.737T>C (p.Leu246Pro) c.482T>C (p.Leu161Pro) | |
1 | g.159886541A>T | CA343219747 | CFAP45 | c.737T>A (p.Leu246Gln) c.482T>A (p.Leu161Gln) | gnomAD v4 |
1 | g.159886542G>A | CA1191060 | CFAP45 | c.736C>T (p.Leu246=) c.481C>T (p.Leu161=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.159886542G>C | CA1191059 | CFAP45 | c.736C>G (p.Leu246Val) c.481C>G (p.Leu161Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.159886542G= | CA1202094311 | CFAP45 | c.736C= (p.Leu246=) c.481C= (p.Leu161=) | |
1 | g.159886542G>T | CA343219748 | CFAP45 | c.736C>A (p.Leu246Met) c.481C>A (p.Leu161Met) | |
1 | g.159886543T>A | CA343219749 | CFAP45 | c.735A>T (p.Glu245Asp) c.480A>T (p.Glu160Asp) | |
1 | g.159886543T>C | CA421350596 | CFAP45 | c.735A>G (p.Glu245=) c.480A>G (p.Glu160=) | |
1 | g.159886543T>G | CA343219750 | CFAP45 | c.735A>C (p.Glu245Asp) c.480A>C (p.Glu160Asp) | |
1 | g.159886544T>A | CA343219751 | CFAP45 | c.734A>T (p.Glu245Val) c.479A>T (p.Glu160Val) | |
1 | g.159886544T>C | CA343219752 | CFAP45 | c.734A>G (p.Glu245Gly) c.479A>G (p.Glu160Gly) | |
1 | g.159886544T>G | CA343219753 | CFAP45 | c.734A>C (p.Glu245Ala) c.479A>C (p.Glu160Ala) | |
1 | g.159886545C>A | CA343219756 | CFAP45 | c.733G>T (p.Glu245Ter) c.478G>T (p.Glu160Ter) | |
1 | g.159886545C>G | CA343219755 | CFAP45 | c.733G>C (p.Glu245Gln) c.478G>C (p.Glu160Gln) | |
1 | g.159886545C>T | CA343219754 | CFAP45 | c.733G>A (p.Glu245Lys) c.478G>A (p.Glu160Lys) | |
1 | g.159886546C>A | CA343219757 | CFAP45 | c.732G>T (p.Glu244Asp) c.477G>T (p.Glu159Asp) | |
1 | g.159886546C= | CA1202094312 | CFAP45 | c.732G= (p.Glu244=) c.477G= (p.Glu159=) | |
1 | g.159886546C>G | CA1191061 | CFAP45 | c.732G>C (p.Glu244Asp) c.477G>C (p.Glu159Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.159886546C>T | CA421350598 | CFAP45 | c.732G>A (p.Glu244=) c.477G>A (p.Glu159=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.159886547T>A | CA343219758 | CFAP45 | c.731A>T (p.Glu244Val) c.476A>T (p.Glu159Val) | |
1 | g.159886547T>C | CA343219759 | CFAP45 | c.731A>G (p.Glu244Gly) c.476A>G (p.Glu159Gly) | dbSNP gnomAD v2 |
1 | g.159886547T>G | CA343219760 | CFAP45 | c.731A>C (p.Glu244Ala) c.476A>C (p.Glu159Ala) | |
1 | g.159886547T= | CA1202094313 | CFAP45 | c.731A= (p.Glu244=) c.476A= (p.Glu159=) | |
1 | g.159886548C>A | CA343219761 | CFAP45 | c.730G>T (p.Glu244Ter) c.475G>T (p.Glu159Ter) | |
1 | g.159886548C= | CA1202094314 | CFAP45 | c.730G= (p.Glu244=) c.475G= (p.Glu159=) | |
1 | g.159886548C>G | CA343219762 | CFAP45 | c.730G>C (p.Glu244Gln) c.475G>C (p.Glu159Gln) | dbSNP gnomAD v4 |
1 | g.159886548C>T | CA343219763 | CFAP45 | c.730G>A (p.Glu244Lys) c.475G>A (p.Glu159Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.159886549del | CA2648611110 | CFAP45 | c.730del (p.Glu244ArgfsTer?) c.475del (p.Glu159ArgfsTer?) | gnomAD v4 |
1 | g.159886549C>A | CA343219764 | CFAP45 | c.729G>T (p.Gln243His) c.474G>T (p.Gln158His) | |
1 | g.159886549C>G | CA343219765 | CFAP45 | c.729G>C (p.Gln243His) c.474G>C (p.Gln158His) | |
1 | g.159886549C>T | CA421350601 | CFAP45 | c.729G>A (p.Gln243=) c.474G>A (p.Gln158=) | |
1 | g.159886550T>A | CA343219766 | CFAP45 | c.728A>T (p.Gln243Leu) c.473A>T (p.Gln158Leu) | |
1 | g.159886550T>C | CA1191062 | CFAP45 | c.728A>G (p.Gln243Arg) c.473A>G (p.Gln158Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.159886550T>G | CA343219767 | CFAP45 | c.728A>C (p.Gln243Pro) c.473A>C (p.Gln158Pro) | |
1 | g.159886550T= | CA1202094315 | CFAP45 | c.728A= (p.Gln243=) c.473A= (p.Gln158=) | |
1 | g.159886551G>A | CA1191063 | CFAP45 | c.727C>T (p.Gln243Ter) c.472C>T (p.Gln158Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.159886551G>C | CA343219769 | CFAP45 | c.727C>G (p.Gln243Glu) c.472C>G (p.Gln158Glu) | |
1 | g.159886551G= | CA1146489821 | CFAP45 | c.727C= (p.Gln243=) c.472C= (p.Gln158=) | |
1 | g.159886551G>T | CA343219768 | CFAP45 | c.727C>A (p.Gln243Lys) c.472C>A (p.Gln158Lys) | |
1 | g.159886552C>A | CA343219770 | CFAP45 | c.726G>T (p.Arg242Ser) c.471G>T (p.Arg157Ser) | |
1 | g.159886552C= | CA1202094316 | CFAP45 | c.726G= (p.Arg242=) c.471G= (p.Arg157=) | |
1 | g.159886552C>G | CA343219771 | CFAP45 | c.726G>C (p.Arg242Ser) c.471G>C (p.Arg157Ser) | |
1 | g.159886552C>T | CA421350605 | CFAP45 | c.726G>A (p.Arg242=) c.471G>A (p.Arg157=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.159886553C>A | CA343219772 | CFAP45 | c.725G>T (p.Arg242Met) c.470G>T (p.Arg157Met) | |
1 | g.159886553C>G | CA343219773 | CFAP45 | c.725G>C (p.Arg242Thr) c.470G>C (p.Arg157Thr) | |
1 | g.159886553C>T | CA343219774 | CFAP45 | c.725G>A (p.Arg242Lys) c.470G>A (p.Arg157Lys) | gnomAD v4 |
1 | g.159886554T>A | CA343219775 | CFAP45 | c.724A>T (p.Arg242Trp) c.469A>T (p.Arg157Trp) | |
1 | g.159886554T>C | CA343219776 | CFAP45 | c.724A>G (p.Arg242Gly) c.469A>G (p.Arg157Gly) | |
1 | g.159886554T>G | CA421350607 | CFAP45 | c.724A>C (p.Arg242=) c.469A>C (p.Arg157=) | |
1 | g.159886555T>A | CA343219777 | CFAP45 | c.723A>T (p.Gln241His) c.468A>T (p.Gln156His) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.159886555T>C | CA1191064 | CFAP45 | c.723A>G (p.Gln241=) c.468A>G (p.Gln156=) | dbSNP ExAC gnomAD v4 |
1 | g.159886555T>G | CA343219778 | CFAP45 | c.723A>C (p.Gln241His) c.468A>C (p.Gln156His) | |
1 | g.159886555T= | CA1202094317 | CFAP45 | c.723A= (p.Gln241=) c.468A= (p.Gln156=) | |
1 | g.159886556T>A | CA343219779 | CFAP45 | c.722A>T (p.Gln241Leu) c.467A>T (p.Gln156Leu) | |
1 | g.159886556T>C | CA343219780 | CFAP45 | c.722A>G (p.Gln241Arg) c.467A>G (p.Gln156Arg) | |
1 | g.159886556T>G | CA343219781 | CFAP45 | c.722A>C (p.Gln241Pro) c.467A>C (p.Gln156Pro) |