Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |