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.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=) | |
1 | g.159886707A>G | CA2648611175 | CFAP45 | c.589-18T>C (n.589-18T>C) c.334-18T>C (n.334-18T>C) | gnomAD v4 |
1 | g.159886708A= | CA1202094352 | CFAP45 | c.589-19T= (n.589-19T=) c.334-19T= (n.334-19T=) | |
1 | g.159886708A>G | CA1191097 | CFAP45 | c.589-19T>C (n.589-19T>C) c.334-19T>C (n.334-19T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.159886709C>T | CA2573583958 | CFAP45 | c.589-20G>A (n.589-20G>A) c.334-20G>A (n.334-20G>A) | |
1 | g.159886711G>A | CA1202094354 | CFAP45 | c.589-22C>T (n.589-22C>T) c.334-22C>T (n.334-22C>T) | dbSNP |
1 | g.159886711G>C | CA31389817 | CFAP45 | c.589-22C>G (n.589-22C>G) c.334-22C>G (n.334-22C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.159886711G= | CA1202094353 | CFAP45 | c.589-22C= (n.589-22C=) c.334-22C= (n.334-22C=) | |
1 | g.159886711G>T | CA2648611176 | CFAP45 | c.589-22C>A (n.589-22C>A) c.334-22C>A (n.334-22C>A) | gnomAD v4 |
1 | g.159886712T>C | CA1191098 | CFAP45 | c.589-23A>G (n.589-23A>G) c.334-23A>G (n.334-23A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.159886712T= | CA1202094355 | CFAP45 | c.589-23A= (n.589-23A=) c.334-23A= (n.334-23A=) | |
1 | g.159886713A= | CA1143733203 | CFAP45 | c.589-24T= (n.589-24T=) c.334-24T= (n.334-24T=) | |
1 | g.159886713A>G | CA1191099 | CFAP45 | c.589-24T>C (n.589-24T>C) c.334-24T>C (n.334-24T>C) | dbSNP ExAC gnomAD v2 |
1 | g.159886714G>T | CA2648611177 | CFAP45 | c.589-25C>A (n.589-25C>A) c.334-25C>A (n.334-25C>A) | gnomAD v4 |
1 | g.159886715C>A | CA2573930927 | CFAP45 | c.589-26G>T (n.589-26G>T) c.334-26G>T (n.334-26G>T) | |
1 | g.159886718T>A | CA2573930929 | CFAP45 | c.589-29A>T (n.589-29A>T) c.334-29A>T (n.334-29A>T) | |
1 | g.159886718T>C | CA2648611179 | CFAP45 | c.589-29A>G (n.589-29A>G) c.334-29A>G (n.334-29A>G) | gnomAD v4 |
1 | g.159886720G>A | CA2648611180 | CFAP45 | c.589-31C>T (n.589-31C>T) c.334-31C>T (n.334-31C>T) | gnomAD v4 |
1 | g.159886720G>T | CA2648611181 | CFAP45 | c.589-31C>A (n.589-31C>A) c.334-31C>A (n.334-31C>A) | gnomAD v4 |
1 | g.159886721del | CA2648611182 | CFAP45 | c.589-31del (n.589-31del) c.334-31del (n.334-31del) | gnomAD v4 |
1 | g.159886721G>T | CA2648611183 | CFAP45 | c.589-32C>A (n.589-32C>A) c.334-32C>A (n.334-32C>A) | gnomAD v4 |
1 | g.159886722C>T | CA2648611184 | CFAP45 | c.589-33G>A (n.589-33G>A) c.334-33G>A (n.334-33G>A) | gnomAD v4 |
1 | g.159886723C>T | CA2648611185 | CFAP45 | c.589-34G>A (n.589-34G>A) c.334-34G>A (n.334-34G>A) | gnomAD v4 |
1 | g.159886725A= | CA1202094356 | CFAP45 | c.589-36T= (n.589-36T=) c.334-36T= (n.334-36T=) | |
1 | g.159886725A>C | CA526677635 | CFAP45 | c.589-36T>G (n.589-36T>G) c.334-36T>G (n.334-36T>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.159886726G>A | CA2648611186 | CFAP45 | c.589-37C>T (n.589-37C>T) c.334-37C>T (n.334-37C>T) | gnomAD v4 |
1 | g.159886727G>A | CA1202094358 | CFAP45 | c.589-38C>T (n.589-38C>T) c.334-38C>T (n.334-38C>T) | dbSNP gnomAD v4 |
1 | g.159886727G= | CA1202094357 | CFAP45 | c.589-38C= (n.589-38C=) c.334-38C= (n.334-38C=) | |
1 | g.159886728G>T | CA2648611187 | CFAP45 | c.589-39C>A (n.589-39C>A) c.334-39C>A (n.334-39C>A) | gnomAD v4 |
1 | g.159886729A= | CA1202094359 | CFAP45 | c.589-40T= (n.589-40T=) c.334-40T= (n.334-40T=) | |
1 | g.159886729A>T | CA1191100 | CFAP45 | c.589-40T>A (n.589-40T>A) c.334-40T>A (n.334-40T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.159886730T>A | CA526677636 | CFAP45 | c.589-41A>T (n.589-41A>T) c.334-41A>T (n.334-41A>T) | dbSNP gnomAD v2 |
1 | g.159886730T= | CA1202094360 | CFAP45 | c.589-41A= (n.589-41A=) c.334-41A= (n.334-41A=) | |
1 | g.159886731G>T | CA2648611188 | CFAP45 | c.589-42C>A (n.589-42C>A) c.334-42C>A (n.334-42C>A) | gnomAD v4 |
1 | g.159886732T>C | CA2573930957 | CFAP45 | c.589-43A>G (n.589-43A>G) c.334-43A>G (n.334-43A>G) |