| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.159886605C>A | CA343219889 | CFAP45 | c.673G>T (p.Glu225Ter) c.418G>T (p.Glu140Ter) | |
| 1 | g.159886605C>G | CA343219890 | CFAP45 | c.673G>C (p.Glu225Gln) c.418G>C (p.Glu140Gln) | |
| 1 | g.159886605C>T | CA343219891 | CFAP45 | c.673G>A (p.Glu225Lys) c.418G>A (p.Glu140Lys) | |
| 1 | g.159886606T>A | CA343219892 | CFAP45 | c.672A>T (p.Glu224Asp) c.417A>T (p.Glu139Asp) | |
| 1 | g.159886606T>C | CA421350652 | CFAP45 | c.672A>G (p.Glu224=) c.417A>G (p.Glu139=) | dbSNP |
| 1 | g.159886606T>G | CA343219893 | CFAP45 | c.672A>C (p.Glu224Asp) c.417A>C (p.Glu139Asp) | gnomAD v4 |
| 1 | g.159886607T>A | CA343219894 | CFAP45 | c.671A>T (p.Glu224Val) c.416A>T (p.Glu139Val) | |
| 1 | g.159886607T>C | CA343219895 | CFAP45 | c.671A>G (p.Glu224Gly) c.416A>G (p.Glu139Gly) | |
| 1 | g.159886607T>G | CA343219896 | CFAP45 | c.671A>C (p.Glu224Ala) c.416A>C (p.Glu139Ala) | |
| 1 | g.159886608C>A | CA343219897 | CFAP45 | c.670G>T (p.Glu224Ter) c.415G>T (p.Glu139Ter) | |
| 1 | g.159886608C= | CA1148454454 | CFAP45 | c.670G= (p.Glu224=) c.415G= (p.Glu139=) | |
| 1 | g.159886608C>G | CA1191076 | CFAP45 | c.670G>C (p.Glu224Gln) c.415G>C (p.Glu139Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.159886608C>T | CA1191075 | CFAP45 | c.670G>A (p.Glu224Lys) c.415G>A (p.Glu139Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.159886609T>A | CA1191078 | CFAP45 | c.669A>T (p.Thr223=) c.414A>T (p.Thr138=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.159886609T>C | CA421350653 | CFAP45 | c.669A>G (p.Thr223=) c.414A>G (p.Thr138=) | |
| 1 | g.159886609T>G | CA1191077 | CFAP45 | c.669A>C (p.Thr223=) c.414A>C (p.Thr138=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.159886609T= | CA1202094328 | CFAP45 | c.669A= (p.Thr223=) c.414A= (p.Thr138=) | |
| 1 | g.159886610G>A | CA343219898 | CFAP45 | c.668C>T (p.Thr223Ile) c.413C>T (p.Thr138Ile) | |
| 1 | g.159886610G>C | CA343219899 | CFAP45 | c.668C>G (p.Thr223Arg) c.413C>G (p.Thr138Arg) | gnomAD v4 |
| 1 | g.159886610G>T | CA343219900 | CFAP45 | c.668C>A (p.Thr223Lys) c.413C>A (p.Thr138Lys) | |
| 1 | g.159886611T>A | CA343219901 | CFAP45 | c.667A>T (p.Thr223Ser) c.412A>T (p.Thr138Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.159886611T>C | CA343219902 | CFAP45 | c.667A>G (p.Thr223Ala) c.412A>G (p.Thr138Ala) | |
| 1 | g.159886611T>G | CA343219903 | CFAP45 | c.667A>C (p.Thr223Pro) c.412A>C (p.Thr138Pro) | |
| 1 | g.159886611T= | CA1202094329 | CFAP45 | c.667A= (p.Thr223=) c.412A= (p.Thr138=) | |
| 1 | g.159886612G>A | CA421350655 | CFAP45 | c.666C>T (p.Asp222=) c.411C>T (p.Asp137=) | |
| 1 | g.159886612G>C | CA343219905 | CFAP45 | c.666C>G (p.Asp222Glu) c.411C>G (p.Asp137Glu) | |
| 1 | g.159886612G>T | CA343219904 | CFAP45 | c.666C>A (p.Asp222Glu) c.411C>A (p.Asp137Glu) | |
| 1 | g.159886613T>A | CA343219906 | CFAP45 | c.665A>T (p.Asp222Val) c.410A>T (p.Asp137Val) | |
| 1 | g.159886613T>C | CA1191079 | CFAP45 | c.665A>G (p.Asp222Gly) c.410A>G (p.Asp137Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.159886613T>G | CA343219907 | CFAP45 | c.665A>C (p.Asp222Ala) c.410A>C (p.Asp137Ala) | |
| 1 | g.159886613T= | CA1140599595 | CFAP45 | c.665A= (p.Asp222=) c.410A= (p.Asp137=) | |
| 1 | g.159886614C>A | CA343219908 | CFAP45 | c.664G>T (p.Asp222Tyr) c.409G>T (p.Asp137Tyr) | |
| 1 | g.159886614C>G | CA343219909 | CFAP45 | c.664G>C (p.Asp222His) c.409G>C (p.Asp137His) | |
| 1 | g.159886614C>T | CA343219910 | CFAP45 | c.664G>A (p.Asp222Asn) c.409G>A (p.Asp137Asn) | |
| 1 | g.159886615C>A | CA421350659 | CFAP45 | c.663G>T (p.Leu221=) c.408G>T (p.Leu136=) | |
| 1 | g.159886615C>G | CA421350657 | CFAP45 | c.663G>C (p.Leu221=) c.408G>C (p.Leu136=) | |
| 1 | g.159886615C>T | CA421350658 | CFAP45 | c.663G>A (p.Leu221=) c.408G>A (p.Leu136=) | |
| 1 | g.159886616A>C | CA343219913 | CFAP45 | c.662T>G (p.Leu221Arg) c.407T>G (p.Leu136Arg) | |
| 1 | g.159886616A>G | CA343219911 | CFAP45 | c.662T>C (p.Leu221Pro) c.407T>C (p.Leu136Pro) | |
| 1 | g.159886616A>T | CA343219912 | CFAP45 | c.662T>A (p.Leu221Gln) c.407T>A (p.Leu136Gln) | |
| 1 | g.159886617G>A | CA421350660 | CFAP45 | c.661C>T (p.Leu221=) c.406C>T (p.Leu136=) | |
| 1 | g.159886617G>C | CA343219914 | CFAP45 | c.661C>G (p.Leu221Val) c.406C>G (p.Leu136Val) | gnomAD v4 |
| 1 | g.159886617G= | CA1202094330 | CFAP45 | c.661C= (p.Leu221=) c.406C= (p.Leu136=) | |
| 1 | g.159886617G>T | CA343219915 | CFAP45 | c.661C>A (p.Leu221Met) c.406C>A (p.Leu136Met) | dbSNP gnomAD v4 |
| 1 | g.159886618T>A | CA343219916 | CFAP45 | c.660A>T (p.Glu220Asp) c.405A>T (p.Glu135Asp) | |
| 1 | g.159886618T>C | CA421350661 | CFAP45 | c.660A>G (p.Glu220=) c.405A>G (p.Glu135=) | gnomAD v4 |
| 1 | g.159886618T>G | CA343219917 | CFAP45 | c.660A>C (p.Glu220Asp) c.405A>C (p.Glu135Asp) | |
| 1 | g.159886619del | CA2648611172 | CFAP45 | c.660del (p.Glu220AspfsTer12) c.405del (p.Glu135AspfsTer12) c.405del (p.Glu135AspfsTer?) | gnomAD v4 |
| 1 | g.159886619T>A | CA343219918 | CFAP45 | c.659A>T (p.Glu220Val) c.404A>T (p.Glu135Val) | |
| 1 | g.159886619T>C | CA343219919 | CFAP45 | c.659A>G (p.Glu220Gly) c.404A>G (p.Glu135Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.159886619T>G | CA343219920 | CFAP45 | c.659A>C (p.Glu220Ala) c.404A>C (p.Glu135Ala) | |
| 1 | g.159886619T= | CA1202094331 | CFAP45 | c.659A= (p.Glu220=) c.404A= (p.Glu135=) | |
| 1 | g.159886620C>A | CA343219921 | CFAP45 | c.658G>T (p.Glu220Ter) c.403G>T (p.Glu135Ter) | COSMIC |
| 1 | g.159886620C= | CA1202094333 | CFAP45 | c.658G= (p.Glu220=) c.403G= (p.Glu135=) | |
| 1 | g.159886620C>G | CA343219922 | CFAP45 | c.658G>C (p.Glu220Gln) c.403G>C (p.Glu135Gln) | |
| 1 | g.159886620C>T | CA343219923 | CFAP45 | c.658G>A (p.Glu220Lys) c.403G>A (p.Glu135Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.159886620_159886621delinsCT | CA1202094332 | CFAP45 | c.657_658delinsAG (p.Lys219=) c.402_403delinsAG (p.Lys134=) | |
| 1 | g.159886621T>A | CA343219924 | CFAP45 | c.657A>T (p.Lys219Asn) c.402A>T (p.Lys134Asn) | |
| 1 | g.159886621T>C | CA421350665 | CFAP45 | c.657A>G (p.Lys219=) c.402A>G (p.Lys134=) | |
| 1 | g.159886621T>G | CA343219925 | CFAP45 | c.657A>C (p.Lys219Asn) c.402A>C (p.Lys134Asn) | |
| 1 | g.159886625del | CA1191080 | CFAP45 | c.657del (p.Glu220AsnfsTer12) c.402del (p.Glu135AsnfsTer12) c.402del (p.Glu135AsnfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.159886622T>A | CA343219926 | CFAP45 | c.656A>T (p.Lys219Ile) c.401A>T (p.Lys134Ile) | |
| 1 | g.159886622T>C | CA1191081 | CFAP45 | c.656A>G (p.Lys219Arg) c.401A>G (p.Lys134Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.159886622T>G | CA343219927 | CFAP45 | c.656A>C (p.Lys219Thr) c.401A>C (p.Lys134Thr) | |
| 1 | g.159886622T= | CA1202094334 | CFAP45 | c.656A= (p.Lys219=) c.401A= (p.Lys134=) | |
| 1 | g.159886623T>A | CA343219928 | CFAP45 | c.655A>T (p.Lys219Ter) c.400A>T (p.Lys134Ter) | |
| 1 | g.159886623T>C | CA343219929 | CFAP45 | c.655A>G (p.Lys219Glu) c.400A>G (p.Lys134Glu) | |
| 1 | g.159886623T>G | CA343219930 | CFAP45 | c.655A>C (p.Lys219Gln) c.400A>C (p.Lys134Gln) | |
| 1 | g.159886624T>A | CA343219931 | CFAP45 | c.654A>T (p.Gln218His) c.399A>T (p.Gln133His) | |
| 1 | g.159886624T>C | CA1191082 | CFAP45 | c.654A>G (p.Gln218=) c.399A>G (p.Gln133=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.159886624T>G | CA343219932 | CFAP45 | c.654A>C (p.Gln218His) c.399A>C (p.Gln133His) | |
| 1 | g.159886624T= | CA1143892255 | CFAP45 | c.654A= (p.Gln218=) c.399A= (p.Gln133=) | |
| 1 | g.159886625T>A | CA343219935 | CFAP45 | c.653A>T (p.Gln218Leu) c.398A>T (p.Gln133Leu) | |
| 1 | g.159886625T>C | CA343219933 | CFAP45 | c.653A>G (p.Gln218Arg) c.398A>G (p.Gln133Arg) | |
| 1 | g.159886625T>G | CA343219934 | CFAP45 | c.653A>C (p.Gln218Pro) c.398A>C (p.Gln133Pro) | dbSNP gnomAD v4 |
| 1 | g.159886625T= | CA1202094335 | CFAP45 | c.653A= (p.Gln218=) c.398A= (p.Gln133=) | |
| 1 | g.159886626G>A | CA343219936 | CFAP45 | c.652C>T (p.Gln218Ter) c.397C>T (p.Gln133Ter) | gnomAD v4 |
| 1 | g.159886626G>C | CA343219937 | CFAP45 | c.652C>G (p.Gln218Glu) c.397C>G (p.Gln133Glu) | |
| 1 | g.159886626G>T | CA343219938 | CFAP45 | c.652C>A (p.Gln218Lys) c.397C>A (p.Gln133Lys) | |
| 1 | g.159886627G>A | CA1191083 | CFAP45 | c.651C>T (p.Ile217=) c.396C>T (p.Ile132=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.159886627G>C | CA343219939 | CFAP45 | c.651C>G (p.Ile217Met) c.396C>G (p.Ile132Met) | |
| 1 | g.159886627G= | CA1202094336 | CFAP45 | c.651C= (p.Ile217=) c.396C= (p.Ile132=) | |
| 1 | g.159886627G>T | CA421350668 | CFAP45 | c.651C>A (p.Ile217=) c.396C>A (p.Ile132=) | gnomAD v4 |
| 1 | g.159886628A>C | CA343219940 | CFAP45 | c.650T>G (p.Ile217Ser) c.395T>G (p.Ile132Ser) | |
| 1 | g.159886628A>G | CA343219942 | CFAP45 | c.650T>C (p.Ile217Thr) c.395T>C (p.Ile132Thr) | gnomAD v4 |
| 1 | g.159886628A>T | CA343219941 | CFAP45 | c.650T>A (p.Ile217Asn) c.395T>A (p.Ile132Asn) | |
| 1 | g.159886629T>A | CA343219943 | CFAP45 | c.649A>T (p.Ile217Phe) c.394A>T (p.Ile132Phe) | gnomAD v4 |
| 1 | g.159886629T>C | CA343219944 | CFAP45 | c.649A>G (p.Ile217Val) c.394A>G (p.Ile132Val) | gnomAD v4 |
| 1 | g.159886629T>G | CA343219945 | CFAP45 | c.649A>C (p.Ile217Leu) c.394A>C (p.Ile132Leu) | |
| 1 | g.159886630C>A | CA343219946 | CFAP45 | c.648G>T (p.Gln216His) c.393G>T (p.Gln131His) | |
| 1 | g.159886630C>G | CA343219947 | CFAP45 | c.648G>C (p.Gln216His) c.393G>C (p.Gln131His) | |
| 1 | g.159886630C>T | CA421350670 | CFAP45 | c.648G>A (p.Gln216=) c.393G>A (p.Gln131=) | |
| 1 | g.159886631T>A | CA343219948 | CFAP45 | c.647A>T (p.Gln216Leu) c.392A>T (p.Gln131Leu) | |
| 1 | g.159886631T>C | CA343219949 | CFAP45 | c.647A>G (p.Gln216Arg) c.392A>G (p.Gln131Arg) | |
| 1 | g.159886631T>G | CA343219950 | CFAP45 | c.647A>C (p.Gln216Pro) c.392A>C (p.Gln131Pro) | |
| 1 | g.159886632G>A | CA343219951 | CFAP45 | c.646C>T (p.Gln216Ter) c.391C>T (p.Gln131Ter) | |
| 1 | g.159886632G>C | CA343219952 | CFAP45 | c.646C>G (p.Gln216Glu) c.391C>G (p.Gln131Glu) | |
| 1 | g.159886632G>T | CA343219953 | CFAP45 | c.646C>A (p.Gln216Lys) c.391C>A (p.Gln131Lys) | |
| 1 | g.159886633C>A | CA343219955 | CFAP45 | c.645G>T (p.Gln215His) c.390G>T (p.Gln130His) | |
| 1 | g.159886633C= | CA1202094337 | CFAP45 | c.645G= (p.Gln215=) c.390G= (p.Gln130=) | |
| 1 | g.159886633C>G | CA343219954 | CFAP45 | c.645G>C (p.Gln215His) c.390G>C (p.Gln130His) | |
| 1 | g.159886633C>T | CA421350673 | CFAP45 | c.645G>A (p.Gln215=) c.390G>A (p.Gln130=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.159886634T>A | CA343219956 | CFAP45 | c.644A>T (p.Gln215Leu) c.389A>T (p.Gln130Leu) | gnomAD v4 |
| 1 | g.159886634T>C | CA343219957 | CFAP45 | c.644A>G (p.Gln215Arg) c.389A>G (p.Gln130Arg) | |
| 1 | g.159886634T>G | CA343219958 | CFAP45 | c.644A>C (p.Gln215Pro) c.389A>C (p.Gln130Pro) | |
| 1 | g.159886635G>A | CA343219959 | CFAP45 | c.643C>T (p.Gln215Ter) c.388C>T (p.Gln130Ter) | |
| 1 | g.159886635G>C | CA1191084 | CFAP45 | c.643C>G (p.Gln215Glu) c.388C>G (p.Gln130Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.159886635G= | CA1142356827 | CFAP45 | c.643C= (p.Gln215=) c.388C= (p.Gln130=) | |
| 1 | g.159886635G>T | CA343219960 | CFAP45 | c.643C>A (p.Gln215Lys) c.388C>A (p.Gln130Lys) | |
| 1 | g.159886636C>A | CA343219961 | CFAP45 | c.642G>T (p.Lys214Asn) c.387G>T (p.Lys129Asn) | |
| 1 | g.159886636C= | CA1202094338 | CFAP45 | c.642G= (p.Lys214=) c.387G= (p.Lys129=) | |
| 1 | g.159886636C>G | CA1191085 | CFAP45 | c.642G>C (p.Lys214Asn) c.387G>C (p.Lys129Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.159886636C>T | CA421350674 | CFAP45 | c.642G>A (p.Lys214=) c.387G>A (p.Lys129=) | |
| 1 | g.159886637T>A | CA343219962 | CFAP45 | c.641A>T (p.Lys214Met) c.386A>T (p.Lys129Met) | |
| 1 | g.159886637T>C | CA343219963 | CFAP45 | c.641A>G (p.Lys214Arg) c.386A>G (p.Lys129Arg) | |
| 1 | g.159886637T>G | CA343219964 | CFAP45 | c.641A>C (p.Lys214Thr) c.386A>C (p.Lys129Thr) | |
| 1 | g.159886638T>A | CA343219965 | CFAP45 | c.640A>T (p.Lys214Ter) c.385A>T (p.Lys129Ter) | |
| 1 | g.159886638T>C | CA343219966 | CFAP45 | c.640A>G (p.Lys214Glu) c.385A>G (p.Lys129Glu) | |
| 1 | g.159886638T>G | CA343219967 | CFAP45 | c.640A>C (p.Lys214Gln) c.385A>C (p.Lys129Gln) | |
| 1 | g.159886639C>A | CA343219969 | CFAP45 | c.639G>T (p.Glu213Asp) c.384G>T (p.Glu128Asp) | |
| 1 | g.159886639C= | CA1139942483 | CFAP45 | c.639G= (p.Glu213=) c.384G= (p.Glu128=) | |
| 1 | g.159886639C>G | CA343219968 | CFAP45 | c.639G>C (p.Glu213Asp) c.384G>C (p.Glu128Asp) | |
| 1 | g.159886639C>T | CA1191086 | CFAP45 | c.639G>A (p.Glu213=) c.384G>A (p.Glu128=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.159886640T>A | CA343219970 | CFAP45 | c.638A>T (p.Glu213Val) c.383A>T (p.Glu128Val) | |
| 1 | g.159886640T>C | CA1191087 | CFAP45 | c.638A>G (p.Glu213Gly) c.383A>G (p.Glu128Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.159886640T>G | CA343219971 | CFAP45 | c.638A>C (p.Glu213Ala) c.383A>C (p.Glu128Ala) | |
| 1 | g.159886640T= | CA1202094339 | CFAP45 | c.638A= (p.Glu213=) c.383A= (p.Glu128=) | |
| 1 | g.159886641C>A | CA343219972 | CFAP45 | c.637G>T (p.Glu213Ter) c.382G>T (p.Glu128Ter) | |
| 1 | g.159886641C>G | CA343219973 | CFAP45 | c.637G>C (p.Glu213Gln) c.382G>C (p.Glu128Gln) | |
| 1 | g.159886641C>T | CA343219974 | CFAP45 | c.637G>A (p.Glu213Lys) c.382G>A (p.Glu128Lys) | COSMIC |
| 1 | g.159886642C>A | CA421350677 | CFAP45 | c.636G>T (p.Leu212=) c.381G>T (p.Leu127=) | |
| 1 | g.159886642C>G | CA421350679 | CFAP45 | c.636G>C (p.Leu212=) c.381G>C (p.Leu127=) | |
| 1 | g.159886642C>T | CA421350678 | CFAP45 | c.636G>A (p.Leu212=) c.381G>A (p.Leu127=) | |
| 1 | g.159886643A>C | CA343219975 | CFAP45 | c.635T>G (p.Leu212Arg) c.380T>G (p.Leu127Arg) | |
| 1 | g.159886643A>G | CA343219976 | CFAP45 | c.635T>C (p.Leu212Pro) c.380T>C (p.Leu127Pro) | |
| 1 | g.159886643A>T | CA343219977 | CFAP45 | c.635T>A (p.Leu212Gln) c.380T>A (p.Leu127Gln) | |
| 1 | g.159886644G>A | CA421350680 | CFAP45 | c.634C>T (p.Leu212=) c.379C>T (p.Leu127=) | |
| 1 | g.159886644G>C | CA343219978 | CFAP45 | c.634C>G (p.Leu212Val) c.379C>G (p.Leu127Val) | |
| 1 | g.159886644G>T | CA343219979 | CFAP45 | c.634C>A (p.Leu212Met) c.379C>A (p.Leu127Met) | |
| 1 | g.159886645G>A | CA421350682 | CFAP45 | c.633C>T (p.Ile211=) c.378C>T (p.Ile126=) | |
| 1 | g.159886645G>C | CA343219980 | CFAP45 | c.633C>G (p.Ile211Met) c.378C>G (p.Ile126Met) | |
| 1 | g.159886645G>T | CA421350683 | CFAP45 | c.633C>A (p.Ile211=) c.378C>A (p.Ile126=) | |
| 1 | g.159886646A>C | CA343219981 | CFAP45 | c.632T>G (p.Ile211Ser) c.377T>G (p.Ile126Ser) | |
| 1 | g.159886646A>G | CA343219982 | CFAP45 | c.632T>C (p.Ile211Thr) c.377T>C (p.Ile126Thr) | gnomAD v4 |
| 1 | g.159886646A>T | CA343219983 | CFAP45 | c.632T>A (p.Ile211Asn) c.377T>A (p.Ile126Asn) | |
| 1 | g.159886647T>A | CA343219985 | CFAP45 | c.631A>T (p.Ile211Phe) c.376A>T (p.Ile126Phe) | |
| 1 | g.159886647T>C | CA343219986 | CFAP45 | c.631A>G (p.Ile211Val) c.376A>G (p.Ile126Val) | dbSNP gnomAD v2 |
| 1 | g.159886647T>G | CA343219984 | CFAP45 | c.631A>C (p.Ile211Leu) c.376A>C (p.Ile126Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.159886647T= | CA1202094340 | CFAP45 | c.631A= (p.Ile211=) c.376A= (p.Ile126=) | |
| 1 | g.159886649del | CA2648611173 | CFAP45 | c.631del (p.Ile211SerfsTer21) c.376del (p.Ile126SerfsTer21) c.376del (p.Ile126SerfsTer?) | gnomAD v4 |
| 1 | g.159886648T>A | CA343219987 | CFAP45 | c.630A>T (p.Gln210His) c.375A>T (p.Gln125His) | |
| 1 | g.159886648T>C | CA421350686 | CFAP45 | c.630A>G (p.Gln210=) c.375A>G (p.Gln125=) | |
| 1 | g.159886648T>G | CA343219988 | CFAP45 | c.630A>C (p.Gln210His) c.375A>C (p.Gln125His) | |
| 1 | g.159886649T>A | CA343219989 | CFAP45 | c.629A>T (p.Gln210Leu) c.374A>T (p.Gln125Leu) | |
| 1 | g.159886649T>C | CA343219990 | CFAP45 | c.629A>G (p.Gln210Arg) c.374A>G (p.Gln125Arg) | |
| 1 | g.159886649T>G | CA343219991 | CFAP45 | c.629A>C (p.Gln210Pro) c.374A>C (p.Gln125Pro) | |
| 1 | g.159886650G>A | CA343219992 | CFAP45 | c.628C>T (p.Gln210Ter) c.373C>T (p.Gln125Ter) | |
| 1 | g.159886650G>C | CA343219993 | CFAP45 | c.628C>G (p.Gln210Glu) c.373C>G (p.Gln125Glu) | |
| 1 | g.159886650G>T | CA343219994 | CFAP45 | c.628C>A (p.Gln210Lys) c.373C>A (p.Gln125Lys) | |
| 1 | g.159886651G>A | CA421350689 | CFAP45 | c.627C>T (p.Ala209=) c.372C>T (p.Ala124=) | |
| 1 | g.159886651G>C | CA421350690 | CFAP45 | c.627C>G (p.Ala209=) c.372C>G (p.Ala124=) | |
| 1 | g.159886651G>T | CA421350688 | CFAP45 | c.627C>A (p.Ala209=) c.372C>A (p.Ala124=) | |
| 1 | g.159886652G>A | CA343219995 | CFAP45 | c.626C>T (p.Ala209Val) c.371C>T (p.Ala124Val) | |
| 1 | g.159886652G>C | CA343219996 | CFAP45 | c.626C>G (p.Ala209Gly) c.371C>G (p.Ala124Gly) | |
| 1 | g.159886652G>T | CA343219997 | CFAP45 | c.626C>A (p.Ala209Asp) c.371C>A (p.Ala124Asp) | |
| 1 | g.159886653C>A | CA343219998 | CFAP45 | c.625G>T (p.Ala209Ser) c.370G>T (p.Ala124Ser) | |
| 1 | g.159886653C>G | CA343219999 | CFAP45 | c.625G>C (p.Ala209Pro) c.370G>C (p.Ala124Pro) | |
| 1 | g.159886653C>T | CA343220000 | CFAP45 | c.625G>A (p.Ala209Thr) c.370G>A (p.Ala124Thr) | |
| 1 | g.159886654A>C | CA343220001 | CFAP45 | c.624T>G (p.Asp208Glu) c.369T>G (p.Asp123Glu) | |
| 1 | g.159886654A>G | CA421350694 | CFAP45 | c.624T>C (p.Asp208=) c.369T>C (p.Asp123=) | |
| 1 | g.159886654A>T | CA343220002 | CFAP45 | c.624T>A (p.Asp208Glu) c.369T>A (p.Asp123Glu) | |
| 1 | g.159886655T>A | CA343220003 | CFAP45 | c.623A>T (p.Asp208Val) c.368A>T (p.Asp123Val) | |
| 1 | g.159886655T>C | CA343220004 | CFAP45 | c.623A>G (p.Asp208Gly) c.368A>G (p.Asp123Gly) | gnomAD v4 |
| 1 | g.159886655T>G | CA343220005 | CFAP45 | c.623A>C (p.Asp208Ala) c.368A>C (p.Asp123Ala) | |
| 1 | g.159886656C>A | CA343220006 | CFAP45 | c.622G>T (p.Asp208Tyr) c.367G>T (p.Asp123Tyr) | dbSNP |
| 1 | g.159886656C= | CA1202094341 | CFAP45 | c.622G= (p.Asp208=) c.367G= (p.Asp123=) | |
| 1 | g.159886656C>G | CA343220007 | CFAP45 | c.622G>C (p.Asp208His) c.367G>C (p.Asp123His) | |
| 1 | g.159886656C>T | CA343220008 | CFAP45 | c.622G>A (p.Asp208Asn) c.367G>A (p.Asp123Asn) | |
| 1 | g.159886657C>A | CA421350698 | CFAP45 | c.621G>T (p.Arg207=) c.366G>T (p.Arg122=) | dbSNP |
| 1 | g.159886657C= | CA1202094342 | CFAP45 | c.621G= (p.Arg207=) c.366G= (p.Arg122=) | |
| 1 | g.159886657C>G | CA421350699 | CFAP45 | c.621G>C (p.Arg207=) c.366G>C (p.Arg122=) | |
| 1 | g.159886657C>T | CA421350700 | CFAP45 | c.621G>A (p.Arg207=) c.366G>A (p.Arg122=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.159886658C>A | CA343220009 | CFAP45 | c.620G>T (p.Arg207Leu) c.365G>T (p.Arg122Leu) | |
| 1 | g.159886658C= | CA1143411782 | CFAP45 | c.620G= (p.Arg207=) c.365G= (p.Arg122=) | |
| 1 | g.159886658C>G | CA343220010 | CFAP45 | c.620G>C (p.Arg207Pro) c.365G>C (p.Arg122Pro) | |
| 1 | g.159886658C>T | CA1191088 | CFAP45 | c.620G>A (p.Arg207Gln) c.365G>A (p.Arg122Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.159886659G>A | CA1191089 | CFAP45 | c.619C>T (p.Arg207Trp) c.364C>T (p.Arg122Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.159886659G>C | CA343220011 | CFAP45 | c.619C>G (p.Arg207Gly) c.364C>G (p.Arg122Gly) | gnomAD v4 |
| 1 | g.159886659G= | CA1141645020 | CFAP45 | c.619C= (p.Arg207=) c.364C= (p.Arg122=) | |
| 1 | g.159886659G>T | CA421350703 | CFAP45 | c.619C>A (p.Arg207=) c.364C>A (p.Arg122=) | |
| 1 | g.159886660G>A | CA421350704 | CFAP45 | c.618C>T (p.Ile206=) c.363C>T (p.Ile121=) | COSMIC |
| 1 | g.159886660G>C | CA343220012 | CFAP45 | c.618C>G (p.Ile206Met) c.363C>G (p.Ile121Met) | gnomAD v4 |
| 1 | g.159886660G>T | CA421350706 | CFAP45 | c.618C>A (p.Ile206=) c.363C>A (p.Ile121=) | |
| 1 | g.159886661A>C | CA343220013 | CFAP45 | c.617T>G (p.Ile206Ser) c.362T>G (p.Ile121Ser) | |
| 1 | g.159886661A>G | CA343220015 | CFAP45 | c.617T>C (p.Ile206Thr) c.362T>C (p.Ile121Thr) | |
| 1 | g.159886661A>T | CA343220014 | CFAP45 | c.617T>A (p.Ile206Asn) c.362T>A (p.Ile121Asn) | |
| 1 | g.159886662T>A | CA343220016 | CFAP45 | c.616A>T (p.Ile206Phe) c.361A>T (p.Ile121Phe) | |
| 1 | g.159886662T>C | CA343220018 | CFAP45 | c.616A>G (p.Ile206Val) c.361A>G (p.Ile121Val) | |
| 1 | g.159886662T>G | CA343220017 | CFAP45 | c.616A>C (p.Ile206Leu) c.361A>C (p.Ile121Leu) | |
| 1 | g.159886663G>A | CA1191090 | CFAP45 | c.615C>T (p.Ala205=) c.360C>T (p.Ala120=) | dbSNP ExAC |
| 1 | g.159886663G>C | CA421350707 | CFAP45 | c.615C>G (p.Ala205=) c.360C>G (p.Ala120=) | |
| 1 | g.159886663G= | CA1202094343 | CFAP45 | c.615C= (p.Ala205=) c.360C= (p.Ala120=) | |
| 1 | g.159886663G>T | CA421350708 | CFAP45 | c.615C>A (p.Ala205=) c.360C>A (p.Ala120=) | |
| 1 | g.159886664G>A | CA343220019 | CFAP45 | c.614C>T (p.Ala205Val) c.359C>T (p.Ala120Val) | |
| 1 | g.159886664G>C | CA343220020 | CFAP45 | c.614C>G (p.Ala205Gly) c.359C>G (p.Ala120Gly) | |
| 1 | g.159886664G>T | CA343220021 | CFAP45 | c.614C>A (p.Ala205Asp) c.359C>A (p.Ala120Asp) | |
| 1 | g.159886665C>A | CA343220022 | CFAP45 | c.613G>T (p.Ala205Ser) c.358G>T (p.Ala120Ser) | |
| 1 | g.159886665C>G | CA343220023 | CFAP45 | c.613G>C (p.Ala205Pro) c.358G>C (p.Ala120Pro) | |
| 1 | g.159886665C>T | CA343220024 | CFAP45 | c.613G>A (p.Ala205Thr) c.358G>A (p.Ala120Thr) | |
| 1 | g.159886666A>C | CA343220025 | CFAP45 | c.612T>G (p.His204Gln) c.357T>G (p.His119Gln) | |
| 1 | g.159886666A>G | CA421350712 | CFAP45 | c.612T>C (p.His204=) c.357T>C (p.His119=) | gnomAD v4 |
| 1 | g.159886666A>T | CA343220026 | CFAP45 | c.612T>A (p.His204Gln) c.357T>A (p.His119Gln) | |
| 1 | g.159886667T>A | CA343220027 | CFAP45 | c.611A>T (p.His204Leu) c.356A>T (p.His119Leu) | dbSNP gnomAD v4 |
| 1 | g.159886667T>C | CA343220028 | CFAP45 | c.611A>G (p.His204Arg) c.356A>G (p.His119Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.159886667T>G | CA343220029 | CFAP45 | c.611A>C (p.His204Pro) c.356A>C (p.His119Pro) | |
| 1 | g.159886667T= | CA1202094344 | CFAP45 | c.611A= (p.His204=) c.356A= (p.His119=) | |
| 1 | g.159886668G>A | CA343220030 | CFAP45 | c.610C>T (p.His204Tyr) c.355C>T (p.His119Tyr) | dbSNP |
| 1 | g.159886668G>C | CA343220032 | CFAP45 | c.610C>G (p.His204Asp) c.355C>G (p.His119Asp) | |
| 1 | g.159886668G= | CA1202094345 | CFAP45 | c.610C= (p.His204=) c.355C= (p.His119=) | |
| 1 | g.159886668G>T | CA343220031 | CFAP45 | c.610C>A (p.His204Asn) c.355C>A (p.His119Asn) | |
| 1 | g.159886669G>A | CA421350714 | CFAP45 | c.609C>T (p.Cys203=) c.354C>T (p.Cys118=) | |
| 1 | g.159886669G>C | CA343220033 | CFAP45 | c.609C>G (p.Cys203Trp) c.354C>G (p.Cys118Trp) | |
| 1 | g.159886669G>T | CA343220034 | CFAP45 | c.609C>A (p.Cys203Ter) c.354C>A (p.Cys118Ter) | |
| 1 | g.159886670C>A | CA343220035 | CFAP45 | c.608G>T (p.Cys203Phe) c.353G>T (p.Cys118Phe) | |
| 1 | g.159886670C>G | CA343220036 | CFAP45 | c.608G>C (p.Cys203Ser) c.353G>C (p.Cys118Ser) | |
| 1 | g.159886670C>T | CA343220037 | CFAP45 | c.608G>A (p.Cys203Tyr) c.353G>A (p.Cys118Tyr) | |
| 1 | g.159886671A>C | CA343220038 | CFAP45 | c.607T>G (p.Cys203Gly) c.352T>G (p.Cys118Gly) | gnomAD v4 |
| 1 | g.159886671A>G | CA343220039 | CFAP45 | c.607T>C (p.Cys203Arg) c.352T>C (p.Cys118Arg) | |
| 1 | g.159886671A>T | CA343220040 | CFAP45 | c.607T>A (p.Cys203Ser) c.352T>A (p.Cys118Ser) | |
| 1 | g.159886672C>A | CA343220041 | CFAP45 | c.606G>T (p.Lys202Asn) c.351G>T (p.Lys117Asn) | |
| 1 | g.159886672C>G | CA343220042 | CFAP45 | c.606G>C (p.Lys202Asn) c.351G>C (p.Lys117Asn) | |
| 1 | g.159886672C>T | CA421350719 | CFAP45 | c.606G>A (p.Lys202=) c.351G>A (p.Lys117=) | |
| 1 | g.159886673T>A | CA343220044 | CFAP45 | c.605A>T (p.Lys202Met) c.350A>T (p.Lys117Met) | |
| 1 | g.159886673T>C | CA343220045 | CFAP45 | c.605A>G (p.Lys202Arg) c.350A>G (p.Lys117Arg) | |
| 1 | g.159886673T>G | CA343220043 | CFAP45 | c.605A>C (p.Lys202Thr) c.350A>C (p.Lys117Thr) | |
| 1 | g.159886674T>A | CA343220046 | CFAP45 | c.604A>T (p.Lys202Ter) c.349A>T (p.Lys117Ter) | |
| 1 | g.159886674T>C | CA343220047 | CFAP45 | c.604A>G (p.Lys202Glu) c.349A>G (p.Lys117Glu) | |
| 1 | g.159886674T>G | CA343220048 | CFAP45 | c.604A>C (p.Lys202Gln) c.349A>C (p.Lys117Gln) | |
| 1 | g.159886675A>C | CA421350723 | CFAP45 | c.603T>G (p.Ala201=) c.348T>G (p.Ala116=) | |
| 1 | g.159886675A>G | CA421350725 | CFAP45 | c.603T>C (p.Ala201=) c.348T>C (p.Ala116=) | |
| 1 | g.159886675A>T | CA421350727 | CFAP45 | c.603T>A (p.Ala201=) c.348T>A (p.Ala116=) | |
| 1 | g.159886676G>A | CA343220049 | CFAP45 | c.602C>T (p.Ala201Val) c.347C>T (p.Ala116Val) | |
| 1 | g.159886676G>C | CA343220050 | CFAP45 | c.602C>G (p.Ala201Gly) c.347C>G (p.Ala116Gly) | |
| 1 | g.159886676G>T | CA343220051 | CFAP45 | c.602C>A (p.Ala201Asp) c.347C>A (p.Ala116Asp) | |
| 1 | g.159886677C>A | CA343220054 | CFAP45 | c.601G>T (p.Ala201Ser) c.346G>T (p.Ala116Ser) | |
| 1 | g.159886677C>G | CA343220052 | CFAP45 | c.601G>C (p.Ala201Pro) c.346G>C (p.Ala116Pro) | |
| 1 | g.159886677C>T | CA343220053 | CFAP45 | c.601G>A (p.Ala201Thr) c.346G>A (p.Ala116Thr) | gnomAD v4 |
| 1 | g.159886678A>C | CA343220055 | CFAP45 | c.600T>G (p.Asn200Lys) c.345T>G (p.Asn115Lys) | |
| 1 | g.159886678A>G | CA421350732 | CFAP45 | c.600T>C (p.Asn200=) c.345T>C (p.Asn115=) | |
| 1 | g.159886678A>T | CA343220056 | CFAP45 | c.600T>A (p.Asn200Lys) c.345T>A (p.Asn115Lys) | |
| 1 | g.159886679T>A | CA343220057 | CFAP45 | c.599A>T (p.Asn200Ile) c.344A>T (p.Asn115Ile) | |
| 1 | g.159886679T>C | CA343220058 | CFAP45 | c.599A>G (p.Asn200Ser) c.344A>G (p.Asn115Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.159886679T>G | CA343220059 | CFAP45 | c.599A>C (p.Asn200Thr) c.344A>C (p.Asn115Thr) | |
| 1 | g.159886679T= | CA1202094346 | CFAP45 | c.599A= (p.Asn200=) c.344A= (p.Asn115=) | |
| 1 | g.159886680T>A | CA343220060 | CFAP45 | c.598A>T (p.Asn200Tyr) c.343A>T (p.Asn115Tyr) | |
| 1 | g.159886680T>C | CA343220062 | CFAP45 | c.598A>G (p.Asn200Asp) c.343A>G (p.Asn115Asp) | |
| 1 | g.159886680T>G | CA343220061 | CFAP45 | c.598A>C (p.Asn200His) c.343A>C (p.Asn115His) | |
| 1 | g.159886681G>A | CA421350738 | CFAP45 | c.597C>T (p.Leu199=) c.342C>T (p.Leu114=) | |
| 1 | g.159886681G>C | CA421350739 | CFAP45 | c.597C>G (p.Leu199=) c.342C>G (p.Leu114=) | |
| 1 | g.159886681G>T | CA421350740 | CFAP45 | c.597C>A (p.Leu199=) c.342C>A (p.Leu114=) | |
| 1 | g.159886682A= | CA1202094347 | CFAP45 | c.596T= (p.Leu199=) c.341T= (p.Leu114=) | |
| 1 | g.159886682A>C | CA343220063 | CFAP45 | c.596T>G (p.Leu199Arg) c.341T>G (p.Leu114Arg) | |
| 1 | g.159886682A>G | CA343220064 | CFAP45 | c.596T>C (p.Leu199Pro) c.341T>C (p.Leu114Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.159886682A>T | CA343220065 | CFAP45 | c.596T>A (p.Leu199His) c.341T>A (p.Leu114His) | |
| 1 | g.159886683G>A | CA343220066 | CFAP45 | c.595C>T (p.Leu199Phe) c.340C>T (p.Leu114Phe) | |
| 1 | g.159886683G>C | CA343220067 | CFAP45 | c.595C>G (p.Leu199Val) c.340C>G (p.Leu114Val) | |
| 1 | g.159886683G>T | CA343220068 | CFAP45 | c.595C>A (p.Leu199Ile) c.340C>A (p.Leu114Ile) | |
| 1 | g.159886684G>A | CA1191091 | CFAP45 | c.594C>T (p.Ile198=) c.339C>T (p.Ile113=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.159886684G>C | CA1191092 | CFAP45 | c.594C>G (p.Ile198Met) c.339C>G (p.Ile113Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.159886684G= | CA1142293941 | CFAP45 | c.594C= (p.Ile198=) c.339C= (p.Ile113=) | |
| 1 | g.159886684G>T | CA421350744 | CFAP45 | c.594C>A (p.Ile198=) c.339C>A (p.Ile113=) | |
| 1 | g.159886685A>C | CA343220069 | CFAP45 | c.593T>G (p.Ile198Ser) c.338T>G (p.Ile113Ser) | |
| 1 | g.159886685A>G | CA343220070 | CFAP45 | c.593T>C (p.Ile198Thr) c.338T>C (p.Ile113Thr) | gnomAD v4 |
| 1 | g.159886685A>T | CA343220071 | CFAP45 | c.593T>A (p.Ile198Asn) c.338T>A (p.Ile113Asn) | |
| 1 | g.159886686T>A | CA343220074 | CFAP45 | c.592A>T (p.Ile198Phe) c.337A>T (p.Ile113Phe) | |
| 1 | g.159886686T>C | CA343220073 | CFAP45 | c.592A>G (p.Ile198Val) c.337A>G (p.Ile113Val) | |
| 1 | g.159886686T>G | CA343220072 | CFAP45 | c.592A>C (p.Ile198Leu) c.337A>C (p.Ile113Leu) | |
| 1 | g.159886687A>C | CA343220075 | CFAP45 | c.591T>G (p.Ile197Met) c.336T>G (p.Ile112Met) | |
| 1 | g.159886687A>G | CA421350746 | CFAP45 | c.591T>C (p.Ile197=) c.336T>C (p.Ile112=) | |
| 1 | g.159886687A>T | CA421350747 | CFAP45 | c.591T>A (p.Ile197=) c.336T>A (p.Ile112=) | |
| 1 | g.159886688A>C | CA343220077 | CFAP45 | c.590T>G (p.Ile197Ser) c.335T>G (p.Ile112Ser) | |
| 1 | g.159886688A>G | CA343220076 | CFAP45 | c.590T>C (p.Ile197Thr) c.335T>C (p.Ile112Thr) | |
| 1 | g.159886688A>T | CA343220078 | CFAP45 | c.590T>A (p.Ile197Asn) c.335T>A (p.Ile112Asn) | |
| 1 | g.159886689T>A | CA343220079 | CFAP45 | c.589A>T (p.Ile197Phe) c.334A>T (p.Ile112Phe) | |
| 1 | g.159886689T>C | CA1191093 | CFAP45 | c.589A>G (p.Ile197Val) c.334A>G (p.Ile112Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.159886689T>G | CA343220080 | CFAP45 | c.589A>C (p.Ile197Leu) c.334A>C (p.Ile112Leu) | |
| 1 | g.159886689T= | CA1141997178 | CFAP45 | c.589A= (p.Ile197=) c.334A= (p.Ile112=) | |
| 1 | g.159886690C>A | CA343220081 | CFAP45 | c.589-1G>T (n.589-1G>T) c.334-1G>T (n.334-1G>T) | |
| 1 | g.159886690C>G | CA343220082 | CFAP45 | c.589-1G>C (n.589-1G>C) c.334-1G>C (n.334-1G>C) | |
| 1 | g.159886690C>T | CA343220083 | CFAP45 | c.589-1G>A (n.589-1G>A) c.334-1G>A (n.334-1G>A) | |
| 1 | g.159886691T>A | CA343220084 | CFAP45 | c.589-2A>T (n.589-2A>T) c.334-2A>T (n.334-2A>T) | |
| 1 | g.159886691T>C | CA343220085 | CFAP45 | c.589-2A>G (n.589-2A>G) c.334-2A>G (n.334-2A>G) | gnomAD v4 |
| 1 | g.159886691T>G | CA343220086 | CFAP45 | c.589-2A>C (n.589-2A>C) c.334-2A>C (n.334-2A>C) | |
| 1 | g.159886692G>A | CA1202094349 | CFAP45 | c.589-3C>T (n.589-3C>T) c.334-3C>T (n.334-3C>T) | dbSNP gnomAD v4 |
| 1 | g.159886692G= | CA1202094348 | CFAP45 | c.589-3C= (n.589-3C=) c.334-3C= (n.334-3C=) | |
| 1 | g.159886693G>A | CA1191094 | CFAP45 | c.589-4C>T (n.589-4C>T) c.334-4C>T (n.334-4C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.159886693G= | CA1202094350 | CFAP45 | c.589-4C= (n.589-4C=) c.334-4C= (n.334-4C=) | |
| 1 | g.159886699G>A | CA2573930906 | CFAP45 | c.589-10C>T (n.589-10C>T) c.334-10C>T (n.334-10C>T) | gnomAD v4 |
| 1 | g.159886700G>A | CA2648611174 | CFAP45 | c.589-11C>T (n.589-11C>T) c.334-11C>T (n.334-11C>T) | gnomAD v4 |
| 1 | g.159886702G>A | CA1191095 | CFAP45 | c.589-13C>T (n.589-13C>T) c.334-13C>T (n.334-13C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.159886702G= | CA1202094351 | CFAP45 | c.589-13C= (n.589-13C=) c.334-13C= (n.334-13C=) | |
| 1 | g.159886703A>C | CA2573583957 | CFAP45 | c.589-14T>G (n.589-14T>G) c.334-14T>G (n.334-14T>G) | |
| 1 | g.159886704T>C | CA1191096 | CFAP45 | c.589-15A>G (n.589-15A>G) c.334-15A>G (n.334-15A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.159886704T= | CA1148885005 | CFAP45 | c.589-15A= (n.589-15A=) c.334-15A= (n.334-15A=) |