Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.95247597C= | CA1803867832 | CFAP418 | c.*20G= (n.*20G=) | |
8 | g.95247597C>T | CA4815096 | CFAP418 | c.*20G>A (n.*20G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.95247598G>A | CA583718005 | CFAP418 | c.*19C>T (n.*19C>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.95247598G= | CA1803867841 | CFAP418 | c.*19C= (n.*19C=) | |
8 | g.95247598G>T | CA1803867846 | CFAP418 | c.*19C>A (n.*19C>A) | dbSNP |
8 | g.95247601T>C | CA583718006 | CFAP418 | c.*16A>G (n.*16A>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.95247601T= | CA1803867851 | CFAP418 | c.*16A= (n.*16A=) | |
8 | g.95247603T>G | CA2687988725 | CFAP418 | c.*14A>C (n.*14A>C) | gnomAD v4 |
8 | g.95247607G>C | CA583718008 | CFAP418 | c.*10C>G (n.*10C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.95247607G= | CA1803867852 | CFAP418 | c.*10C= (n.*10C=) | |
8 | g.95247608T>C | CA4815097 | CFAP418 | c.*9A>G (n.*9A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.95247608T= | CA1803867853 | CFAP418 | c.*9A= (n.*9A=) | |
8 | g.95247609C>T | CA2687988726 | CFAP418 | c.*8G>A (n.*8G>A) | gnomAD v4 |
8 | g.95247610T>G | CA4815098 | CFAP418 | c.*7A>C (n.*7A>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
8 | g.95247610T= | CA1803867856 | CFAP418 | c.*7A= (n.*7A=) | |
8 | g.95247611G>A | CA1116810481 | CFAP418 | c.*6C>T (n.*6C>T) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.95247611G>C | CA2579225353 | CFAP418 | c.*6C>G (n.*6C>G) | |
8 | g.95247611G= | CA1803867862 | CFAP418 | c.*6C= (n.*6C=) | |
8 | g.95247612C= | CA1803867865 | CFAP418 | c.*5G= (n.*5G=) | |
8 | g.95247612C>T | CA4815099 | CFAP418 | c.*5G>A (n.*5G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.95247613A= | CA1803867867 | CFAP418 | c.*4T= (n.*4T=) | |
8 | g.95247613A>C | CA583718013 | CFAP418 | c.*4T>G (n.*4T>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.95247616_95247618del | CA2687988727 | CFAP418 | c.*1_*3del (n.*1_*3del) | gnomAD v4 |
8 | g.95247617T>A | CA371838057 | CFAP418 | c.624A>T (p.Ter208Tyr) c.867A>T (p.Ter289Tyr) c.528A>T (p.Ter176Tyr) | |
8 | g.95247617T>C | CA462360800 | CFAP418 | c.624A>G (p.Ter208=) c.867A>G (p.Ter289=) c.528A>G (p.Ter176=) | |
8 | g.95247617T>G | CA371838058 | CFAP418 | c.624A>C (p.Ter208Tyr) c.867A>C (p.Ter289Tyr) c.528A>C (p.Ter176Tyr) | |
8 | g.95247618T>A | CA371838059 | CFAP418 | c.623A>T (p.Ter208Leu) c.866A>T (p.Ter289Leu) c.527A>T (p.Ter176Leu) | |
8 | g.95247618T>C | CA462360801 | CFAP418 | c.623A>G (p.Ter208=) c.866A>G (p.Ter289=) c.527A>G (p.Ter176=) | |
8 | g.95247618T>G | CA371838060 | CFAP418 | c.623A>C (p.Ter208Ser) c.866A>C (p.Ter289Ser) c.527A>C (p.Ter176Ser) | |
8 | g.95247619A>C | CA371838061 | CFAP418 | c.622T>G (p.Ter208Glu) c.865T>G (p.Ter289Glu) c.526T>G (p.Ter176Glu) | |
8 | g.95247619A>G | CA371838062 | CFAP418 | c.622T>C (p.Ter208Gln) c.865T>C (p.Ter289Gln) c.526T>C (p.Ter176Gln) | |
8 | g.95247619A>T | CA371838063 | CFAP418 | c.622T>A (p.Ter208Lys) c.865T>A (p.Ter289Lys) c.526T>A (p.Ter176Lys) | |
8 | g.95247620A>C | CA371838064 | CFAP418 | c.621T>G (p.His207Gln) c.864T>G (p.His288Gln) c.525T>G (p.His175Gln) | |
8 | g.95247620A>G | CA462360802 | CFAP418 | c.621T>C (p.His207=) c.864T>C (p.His288=) c.525T>C (p.His175=) | |
8 | g.95247620A>T | CA371838065 | CFAP418 | c.621T>A (p.His207Gln) c.864T>A (p.His288Gln) c.525T>A (p.His175Gln) | |
8 | g.95247621T>A | CA371838066 | CFAP418 | c.620A>T (p.His207Leu) c.863A>T (p.His288Leu) c.524A>T (p.His175Leu) | |
8 | g.95247621T>C | CA4815100 | CFAP418 | c.620A>G (p.His207Arg) c.863A>G (p.His288Arg) c.524A>G (p.His175Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.95247621T>G | CA371838067 | CFAP418 | c.620A>C (p.His207Pro) c.863A>C (p.His288Pro) c.524A>C (p.His175Pro) | |
8 | g.95247621T= | CA1803867870 | CFAP418 | c.620A= (p.His207=) c.863A= (p.His288=) c.524A= (p.His175=) | |
8 | g.95247622G>A | CA371838068 | CFAP418 | c.619C>T (p.His207Tyr) c.862C>T (p.His288Tyr) c.523C>T (p.His175Tyr) | |
8 | g.95247622G>C | CA371838069 | CFAP418 | c.619C>G (p.His207Asp) c.862C>G (p.His288Asp) c.523C>G (p.His175Asp) | |
8 | g.95247622G>T | CA371838070 | CFAP418 | c.619C>A (p.His207Asn) c.862C>A (p.His288Asn) c.523C>A (p.His175Asn) | |
8 | g.95247623T>A | CA371838071 | CFAP418 | c.618A>T (p.Lys206Asn) c.861A>T (p.Lys287Asn) c.522A>T (p.Lys174Asn) | |
8 | g.95247623T>C | CA462360803 | CFAP418 | c.618A>G (p.Lys206=) c.861A>G (p.Lys287=) c.522A>G (p.Lys174=) | |
8 | g.95247623T>G | CA371838072 | CFAP418 | c.618A>C (p.Lys206Asn) c.861A>C (p.Lys287Asn) c.522A>C (p.Lys174Asn) | |
8 | g.95247624T>A | CA371838073 | CFAP418 | c.617A>T (p.Lys206Ile) c.860A>T (p.Lys287Ile) c.521A>T (p.Lys174Ile) | |
8 | g.95247624T>C | CA4815101 | CFAP418 | c.617A>G (p.Lys206Arg) c.860A>G (p.Lys287Arg) c.521A>G (p.Lys174Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.95247624T>G | CA371838074 | CFAP418 | c.617A>C (p.Lys206Thr) c.860A>C (p.Lys287Thr) c.521A>C (p.Lys174Thr) | COSMIC |
8 | g.95247624T= | CA1803867873 | CFAP418 | c.617A= (p.Lys206=) c.860A= (p.Lys287=) c.521A= (p.Lys174=) | |
8 | g.95247625T>A | CA371838075 | CFAP418 | c.616A>T (p.Lys206Ter) c.859A>T (p.Lys287Ter) c.520A>T (p.Lys174Ter) |