Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
1 | g.159886557G>A | CA343219783 | CFAP45 | c.721C>T (p.Gln241Ter) c.466C>T (p.Gln156Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.159886557G>C | CA343219784 | CFAP45 | c.721C>G (p.Gln241Glu) c.466C>G (p.Gln156Glu) | |
1 | g.159886557G>T | CA343219782 | CFAP45 | c.721C>A (p.Gln241Lys) c.466C>A (p.Gln156Lys) | |
1 | g.159886558A>C | CA343219785 | CFAP45 | c.720T>G (p.Ile240Met) c.465T>G (p.Ile155Met) | |
1 | g.159886558A>G | CA421350610 | CFAP45 | c.720T>C (p.Ile240=) c.465T>C (p.Ile155=) | |
1 | g.159886558A>T | CA421350609 | CFAP45 | c.720T>A (p.Ile240=) c.465T>A (p.Ile155=) | |
1 | g.159886559A>C | CA343219786 | CFAP45 | c.719T>G (p.Ile240Ser) c.464T>G (p.Ile155Ser) | |
1 | g.159886559A>G | CA343219787 | CFAP45 | c.719T>C (p.Ile240Thr) c.464T>C (p.Ile155Thr) | |
1 | g.159886559A>T | CA343219788 | CFAP45 | c.719T>A (p.Ile240Asn) c.464T>A (p.Ile155Asn) | |
1 | g.159886560T>A | CA1191065 | CFAP45 | c.718A>T (p.Ile240Phe) c.463A>T (p.Ile155Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.159886560T>C | CA343219789 | CFAP45 | c.718A>G (p.Ile240Val) c.463A>G (p.Ile155Val) | |
1 | g.159886560T>G | CA343219790 | CFAP45 | c.718A>C (p.Ile240Leu) c.463A>C (p.Ile155Leu) | |
1 | g.159886560T= | CA1202094318 | CFAP45 | c.718A= (p.Ile240=) c.463A= (p.Ile155=) | |
1 | g.159886561G>A | CA421350614 | CFAP45 | c.717C>T (p.Ser239=) c.462C>T (p.Ser154=) | |
1 | g.159886561G>C | CA421350615 | CFAP45 | c.717C>G (p.Ser239=) c.462C>G (p.Ser154=) | |
1 | g.159886561G>T | CA421350616 | CFAP45 | c.717C>A (p.Ser239=) c.462C>A (p.Ser154=) | |
1 | g.159886562G>A | CA343219793 | CFAP45 | c.716C>T (p.Ser239Phe) c.461C>T (p.Ser154Phe) | |
1 | g.159886562G>C | CA343219791 | CFAP45 | c.716C>G (p.Ser239Cys) c.461C>G (p.Ser154Cys) | |
1 | g.159886562G>T | CA343219792 | CFAP45 | c.716C>A (p.Ser239Tyr) c.461C>A (p.Ser154Tyr) | |
1 | g.159886563A= | CA1202094319 | CFAP45 | c.715T= (p.Ser239=) c.460T= (p.Ser154=) | |
1 | g.159886563A>C | CA343219794 | CFAP45 | c.715T>G (p.Ser239Ala) c.460T>G (p.Ser154Ala) | |
1 | g.159886563A>G | CA343219795 | CFAP45 | c.715T>C (p.Ser239Pro) c.460T>C (p.Ser154Pro) | |
1 | g.159886563A>T | CA343219796 | CFAP45 | c.715T>A (p.Ser239Thr) c.460T>A (p.Ser154Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.159886564T>A | CA343219797 | CFAP45 | c.714A>T (p.Lys238Asn) c.459A>T (p.Lys153Asn) | |
1 | g.159886564T>C | CA421350619 | CFAP45 | c.714A>G (p.Lys238=) c.459A>G (p.Lys153=) | |
1 | g.159886564T>G | CA343219798 | CFAP45 | c.714A>C (p.Lys238Asn) c.459A>C (p.Lys153Asn) | |
1 | g.159886565T>A | CA343219799 | CFAP45 | c.713A>T (p.Lys238Ile) c.458A>T (p.Lys153Ile) | |
1 | g.159886565T>C | CA343219801 | CFAP45 | c.713A>G (p.Lys238Arg) c.458A>G (p.Lys153Arg) | |
1 | g.159886565T>G | CA343219800 | CFAP45 | c.713A>C (p.Lys238Thr) c.458A>C (p.Lys153Thr) | |
1 | g.159886566T>A | CA343219802 | CFAP45 | c.712A>T (p.Lys238Ter) c.457A>T (p.Lys153Ter) | |
1 | g.159886566T>C | CA31389763 | CFAP45 | c.712A>G (p.Lys238Glu) c.457A>G (p.Lys153Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.159886566T>G | CA343219803 | CFAP45 | c.712A>C (p.Lys238Gln) c.457A>C (p.Lys153Gln) | |
1 | g.159886566T= | CA1147884772 | CFAP45 | c.712A= (p.Lys238=) c.457A= (p.Lys153=) | |
1 | g.159886567C>A | CA343219804 | CFAP45 | c.711G>T (p.Gln237His) c.456G>T (p.Gln152His) | dbSNP |
1 | g.159886567C= | CA1202094320 | CFAP45 | c.711G= (p.Gln237=) c.456G= (p.Gln152=) | |
1 | g.159886567C>G | CA343219805 | CFAP45 | c.711G>C (p.Gln237His) c.456G>C (p.Gln152His) | |
1 | g.159886567C>T | CA421350621 | CFAP45 | c.711G>A (p.Gln237=) c.456G>A (p.Gln152=) | |
1 | g.159886568T>A | CA343219806 | CFAP45 | c.710A>T (p.Gln237Leu) c.455A>T (p.Gln152Leu) | |
1 | g.159886568T>C | CA343219807 | CFAP45 | c.710A>G (p.Gln237Arg) c.455A>G (p.Gln152Arg) | |
1 | g.159886568T>G | CA343219808 | CFAP45 | c.710A>C (p.Gln237Pro) c.455A>C (p.Gln152Pro) | |
1 | g.159886569G>A | CA343219809 | CFAP45 | c.709C>T (p.Gln237Ter) c.454C>T (p.Gln152Ter) | |
1 | g.159886569G>C | CA343219810 | CFAP45 | c.709C>G (p.Gln237Glu) c.454C>G (p.Gln152Glu) | |
1 | g.159886569G>T | CA343219811 | CFAP45 | c.709C>A (p.Gln237Lys) c.454C>A (p.Gln152Lys) | |
1 | g.159886570C>A | CA421350623 | CFAP45 | c.708G>T (p.Arg236=) c.453G>T (p.Arg151=) | gnomAD v4 |
1 | g.159886570C= | CA1202094321 | CFAP45 | c.708G= (p.Arg236=) c.453G= (p.Arg151=) | |
1 | g.159886570C>G | CA421350624 | CFAP45 | c.708G>C (p.Arg236=) c.453G>C (p.Arg151=) | |
1 | g.159886570C>T | CA421350625 | CFAP45 | c.708G>A (p.Arg236=) c.453G>A (p.Arg151=) | COSMIC |
1 | g.159886571C>A | CA343219812 | CFAP45 | c.707G>T (p.Arg236Leu) c.452G>T (p.Arg151Leu) | |
1 | g.159886571C= | CA1141796791 | CFAP45 | c.707G= (p.Arg236=) c.452G= (p.Arg151=) | |
1 | g.159886571C>G | CA1191066 | CFAP45 | c.707G>C (p.Arg236Pro) c.452G>C (p.Arg151Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.159886571C>T | CA1191067 | CFAP45 | c.707G>A (p.Arg236Gln) c.452G>A (p.Arg151Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.159886571_159886645dup | CA1008314391 | CFAP45 | c.633_707dup (p.Arg236_Gln237insLeuGluLysGlnGlnIleGlnLysGluLeuAspThrGluGluLysArgLeuAspGlnMetMetGluValGluArg) c.378_452dup (p.Arg151_Gln152insLeuGluLysGlnGlnIleGlnLysGluLeuAspThrGluGluLysArgLeuAspGlnMetMetGluValGluArg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.159886572G>A | CA1191068 | CFAP45 | c.706C>T (p.Arg236Trp) c.451C>T (p.Arg151Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.159886572G>C | CA343219813 | CFAP45 | c.706C>G (p.Arg236Gly) c.451C>G (p.Arg151Gly) | |
1 | g.159886572G= | CA1141251722 | CFAP45 | c.706C= (p.Arg236=) c.451C= (p.Arg151=) | |
1 | g.159886572G>T | CA421350629 | CFAP45 | c.706C>A (p.Arg236=) c.451C>A (p.Arg151=) | |
1 | g.159886573C>A | CA343219814 | CFAP45 | c.705G>T (p.Glu235Asp) c.450G>T (p.Glu150Asp) | |
1 | g.159886573C>G | CA343219815 | CFAP45 | c.705G>C (p.Glu235Asp) c.450G>C (p.Glu150Asp) | |
1 | g.159886573C>T | CA421350630 | CFAP45 | c.705G>A (p.Glu235=) c.450G>A (p.Glu150=) | COSMIC |
1 | g.159886574T>A | CA343219816 | CFAP45 | c.704A>T (p.Glu235Val) c.449A>T (p.Glu150Val) | |
1 | g.159886574T>C | CA343219817 | CFAP45 | c.704A>G (p.Glu235Gly) c.449A>G (p.Glu150Gly) | |
1 | g.159886574T>G | CA343219818 | CFAP45 | c.704A>C (p.Glu235Ala) c.449A>C (p.Glu150Ala) | |
1 | g.159886575C>A | CA343219819 | CFAP45 | c.703G>T (p.Glu235Ter) c.448G>T (p.Glu150Ter) | |
1 | g.159886575C>G | CA343219820 | CFAP45 | c.703G>C (p.Glu235Gln) c.448G>C (p.Glu150Gln) | |
1 | g.159886575C>T | CA343219821 | CFAP45 | c.703G>A (p.Glu235Lys) c.448G>A (p.Glu150Lys) | |
1 | g.159886576C>A | CA421350632 | CFAP45 | c.702G>T (p.Val234=) c.447G>T (p.Val149=) | |
1 | g.159886576C>G | CA421350633 | CFAP45 | c.702G>C (p.Val234=) c.447G>C (p.Val149=) | |
1 | g.159886576C>T | CA421350634 | CFAP45 | c.702G>A (p.Val234=) c.447G>A (p.Val149=) | |
1 | g.159886577A= | CA1202094322 | CFAP45 | c.701T= (p.Val234=) c.446T= (p.Val149=) | |
1 | g.159886577A>C | CA343219822 | CFAP45 | c.701T>G (p.Val234Gly) c.446T>G (p.Val149Gly) | |
1 | g.159886577A>G | CA343219823 | CFAP45 | c.701T>C (p.Val234Ala) c.446T>C (p.Val149Ala) | dbSNP gnomAD v2 |
1 | g.159886577A>T | CA343219824 | CFAP45 | c.701T>A (p.Val234Glu) c.446T>A (p.Val149Glu) | |
1 | g.159886578C>A | CA343219825 | CFAP45 | c.700G>T (p.Val234Leu) c.445G>T (p.Val149Leu) | gnomAD v4 |
1 | g.159886578C= | CA1202094323 | CFAP45 | c.700G= (p.Val234=) c.445G= (p.Val149=) | |
1 | g.159886578C>G | CA343219827 | CFAP45 | c.700G>C (p.Val234Leu) c.445G>C (p.Val149Leu) | |
1 | g.159886578C>T | CA343219826 | CFAP45 | c.700G>A (p.Val234Met) c.445G>A (p.Val149Met) | dbSNP gnomAD v4 COSMIC |
1 | g.159886579T>A | CA343219828 | CFAP45 | c.699A>T (p.Glu233Asp) c.444A>T (p.Glu148Asp) | |
1 | g.159886579T>C | CA421350635 | CFAP45 | c.699A>G (p.Glu233=) c.444A>G (p.Glu148=) | |
1 | g.159886579T>G | CA343219829 | CFAP45 | c.699A>C (p.Glu233Asp) c.444A>C (p.Glu148Asp) | |
1 | g.159886580T>A | CA343219830 | CFAP45 | c.698A>T (p.Glu233Val) c.443A>T (p.Glu148Val) | |
1 | g.159886580T>C | CA343219831 | CFAP45 | c.698A>G (p.Glu233Gly) c.443A>G (p.Glu148Gly) | |
1 | g.159886580T>G | CA343219832 | CFAP45 | c.698A>C (p.Glu233Ala) c.443A>C (p.Glu148Ala) | |
1 | g.159886581C>A | CA1191069 | CFAP45 | c.697G>T (p.Glu233Ter) c.442G>T (p.Glu148Ter) | dbSNP ExAC gnomAD v2 |
1 | g.159886581C= | CA1202094324 | CFAP45 | c.697G= (p.Glu233=) c.442G= (p.Glu148=) | |
1 | g.159886581C>G | CA343219833 | CFAP45 | c.697G>C (p.Glu233Gln) c.442G>C (p.Glu148Gln) | |
1 | g.159886581C>T | CA343219834 | CFAP45 | c.697G>A (p.Glu233Lys) c.442G>A (p.Glu148Lys) | |
1 | g.159886582C>A | CA343219835 | CFAP45 | c.696G>T (p.Met232Ile) c.441G>T (p.Met147Ile) | |
1 | g.159886582C>G | CA343219836 | CFAP45 | c.696G>C (p.Met232Ile) c.441G>C (p.Met147Ile) | |
1 | g.159886582C>T | CA343219837 | CFAP45 | c.696G>A (p.Met232Ile) c.441G>A (p.Met147Ile) | gnomAD v4 |
1 | g.159886583A>C | CA343219839 | CFAP45 | c.695T>G (p.Met232Arg) c.440T>G (p.Met147Arg) | |
1 | g.159886583A>G | CA343219840 | CFAP45 | c.695T>C (p.Met232Thr) c.440T>C (p.Met147Thr) | |
1 | g.159886583A>T | CA343219838 | CFAP45 | c.695T>A (p.Met232Lys) c.440T>A (p.Met147Lys) | |
1 | g.159886584T>A | CA343219842 | CFAP45 | c.694A>T (p.Met232Leu) c.439A>T (p.Met147Leu) | |
1 | g.159886584T>C | CA343219841 | CFAP45 | c.694A>G (p.Met232Val) c.439A>G (p.Met147Val) | |
1 | g.159886584T>G | CA343219843 | CFAP45 | c.694A>C (p.Met232Leu) c.439A>C (p.Met147Leu) | |
1 | g.159886585C>A | CA343219844 | CFAP45 | c.693G>T (p.Met231Ile) c.438G>T (p.Met146Ile) | |
1 | g.159886585C>G | CA343219846 | CFAP45 | c.693G>C (p.Met231Ile) c.438G>C (p.Met146Ile) | |
1 | g.159886585C>T | CA343219845 | CFAP45 | c.693G>A (p.Met231Ile) c.438G>A (p.Met146Ile) | |
1 | g.159886586A= | CA1202094325 | CFAP45 | c.692T= (p.Met231=) c.437T= (p.Met146=) | |
1 | g.159886586A>C | CA343219847 | CFAP45 | c.692T>G (p.Met231Arg) c.437T>G (p.Met146Arg) | |
1 | g.159886586A>G | CA343219848 | CFAP45 | c.692T>C (p.Met231Thr) c.437T>C (p.Met146Thr) | |
1 | g.159886586A>T | CA1191070 | CFAP45 | c.692T>A (p.Met231Lys) c.437T>A (p.Met146Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |