Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56975122_56975132delinsTTCAACACCAA | CA2224400094 | CETP | c.952_962delinsTTCAACACCAA (p.Phe318=) c.772_782delinsTTCAACACCAA (p.Phe258=) c.757_767delinsTTCAACACCAA (p.Phe253=) | |
16 | g.56975123T>A | CA396004119 | CETP | c.953T>A (p.Phe318Tyr) c.773T>A (p.Phe258Tyr) c.758T>A (p.Phe253Tyr) | |
16 | g.56975123T>C | CA396004120 | CETP | c.953T>C (p.Phe318Ser) c.773T>C (p.Phe258Ser) c.758T>C (p.Phe253Ser) | |
16 | g.56975123T>G | CA396004121 | CETP | c.953T>G (p.Phe318Cys) c.773T>G (p.Phe258Cys) c.758T>G (p.Phe253Cys) | |
16 | g.56975123_56975132del | CA8071166 | CETP | c.953_962del (p.Phe318SerfsTer?) c.773_782del (p.Phe258SerfsTer?) c.758_767del (p.Phe253SerfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56975124C>A | CA396004122 | CETP | c.954C>A (p.Phe318Leu) c.774C>A (p.Phe258Leu) c.759C>A (p.Phe253Leu) | |
16 | g.56975124C>G | CA396004123 | CETP | c.954C>G (p.Phe318Leu) c.774C>G (p.Phe258Leu) c.759C>G (p.Phe253Leu) | |
16 | g.56975124C>T | CA495620073 | CETP | c.954C>T (p.Phe318=) c.774C>T (p.Phe258=) c.759C>T (p.Phe253=) | |
16 | g.56975125A>C | CA396004126 | CETP | c.955A>C (p.Asn319His) c.775A>C (p.Asn259His) c.760A>C (p.Asn254His) | |
16 | g.56975125A>G | CA396004125 | CETP | c.955A>G (p.Asn319Asp) c.775A>G (p.Asn259Asp) c.760A>G (p.Asn254Asp) | |
16 | g.56975125A>T | CA396004124 | CETP | c.955A>T (p.Asn319Tyr) c.775A>T (p.Asn259Tyr) c.760A>T (p.Asn254Tyr) | |
16 | g.56975126A>C | CA396004127 | CETP | c.956A>C (p.Asn319Thr) c.776A>C (p.Asn259Thr) c.761A>C (p.Asn254Thr) | |
16 | g.56975126A>G | CA396004128 | CETP | c.956A>G (p.Asn319Ser) c.776A>G (p.Asn259Ser) c.761A>G (p.Asn254Ser) | |
16 | g.56975126A>T | CA396004129 | CETP | c.956A>T (p.Asn319Ile) c.776A>T (p.Asn259Ile) c.761A>T (p.Asn254Ile) | |
16 | g.56975127C>A | CA8071167 | CETP | c.957C>A (p.Asn319Lys) c.777C>A (p.Asn259Lys) c.762C>A (p.Asn254Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56975127C= | CA2224400095 | CETP | c.957C= (p.Asn319=) c.777C= (p.Asn259=) c.762C= (p.Asn254=) | |
16 | g.56975127C>G | CA396004130 | CETP | c.957C>G (p.Asn319Lys) c.777C>G (p.Asn259Lys) c.762C>G (p.Asn254Lys) | |
16 | g.56975127C>T | CA495620076 | CETP | c.957C>T (p.Asn319=) c.777C>T (p.Asn259=) c.762C>T (p.Asn254=) | |
16 | g.56975128A>C | CA396004131 | CETP | c.958A>C (p.Thr320Pro) c.778A>C (p.Thr260Pro) c.763A>C (p.Thr255Pro) | |
16 | g.56975128A>G | CA396004132 | CETP | c.958A>G (p.Thr320Ala) c.778A>G (p.Thr260Ala) c.763A>G (p.Thr255Ala) | |
16 | g.56975128A>T | CA396004133 | CETP | c.958A>T (p.Thr320Ser) c.778A>T (p.Thr260Ser) c.763A>T (p.Thr255Ser) | |
16 | g.56975129C>A | CA396004134 | CETP | c.959C>A (p.Thr320Asn) c.779C>A (p.Thr260Asn) c.764C>A (p.Thr255Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56975129C= | CA2224400096 | CETP | c.959C= (p.Thr320=) c.779C= (p.Thr260=) c.764C= (p.Thr255=) | |
16 | g.56975129C>G | CA396004135 | CETP | c.959C>G (p.Thr320Ser) c.779C>G (p.Thr260Ser) c.764C>G (p.Thr255Ser) | |
16 | g.56975129C>T | CA396004136 | CETP | c.959C>T (p.Thr320Ile) c.779C>T (p.Thr260Ile) c.764C>T (p.Thr255Ile) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56975130C>A | CA495620077 | CETP | c.960C>A (p.Thr320=) c.780C>A (p.Thr260=) c.765C>A (p.Thr255=) | |
16 | g.56975130C= | CA2224400097 | CETP | c.960C= (p.Thr320=) c.780C= (p.Thr260=) c.765C= (p.Thr255=) | |
16 | g.56975130C>G | CA495620078 | CETP | c.960C>G (p.Thr320=) c.780C>G (p.Thr260=) c.765C>G (p.Thr255=) | |
16 | g.56975130C>T | CA495620079 | CETP | c.960C>T (p.Thr320=) c.780C>T (p.Thr260=) c.765C>T (p.Thr255=) | dbSNP gnomAD v4 |
16 | g.56975131A>C | CA396004139 | CETP | c.961A>C (p.Asn321His) c.781A>C (p.Asn261His) c.766A>C (p.Asn256His) | |
16 | g.56975131A>G | CA396004138 | CETP | c.961A>G (p.Asn321Asp) c.781A>G (p.Asn261Asp) c.766A>G (p.Asn256Asp) | |
16 | g.56975131A>T | CA396004137 | CETP | c.961A>T (p.Asn321Tyr) c.781A>T (p.Asn261Tyr) c.766A>T (p.Asn256Tyr) | |
16 | g.56975132A= | CA2224400098 | CETP | c.962A= (p.Asn321=) c.782A= (p.Asn261=) c.767A= (p.Asn256=) | |
16 | g.56975132A>C | CA396004140 | CETP | c.962A>C (p.Asn321Thr) c.782A>C (p.Asn261Thr) c.767A>C (p.Asn256Thr) | gnomAD v4 |
16 | g.56975132A>G | CA396004141 | CETP | c.962A>G (p.Asn321Ser) c.782A>G (p.Asn261Ser) c.767A>G (p.Asn256Ser) | dbSNP |
16 | g.56975132A>T | CA396004142 | CETP | c.962A>T (p.Asn321Ile) c.782A>T (p.Asn261Ile) c.767A>T (p.Asn256Ile) | |
16 | g.56975133C>A | CA396004143 | CETP | c.963C>A (p.Asn321Lys) c.783C>A (p.Asn261Lys) c.768C>A (p.Asn256Lys) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56975133C= | CA2224400099 | CETP | c.963C= (p.Asn321=) c.783C= (p.Asn261=) c.768C= (p.Asn256=) | |
16 | g.56975133C>G | CA396004144 | CETP | c.963C>G (p.Asn321Lys) c.783C>G (p.Asn261Lys) c.768C>G (p.Asn256Lys) | |
16 | g.56975133C>T | CA495620081 | CETP | c.963C>T (p.Asn321=) c.783C>T (p.Asn261=) c.768C>T (p.Asn256=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56975134C>A | CA281525411 | CETP | c.964C>A (p.Gln322Lys) c.784C>A (p.Gln262Lys) c.769C>A (p.Gln257Lys) | dbSNP |
16 | g.56975134C= | CA2224400100 | CETP | c.964C= (p.Gln322=) c.784C= (p.Gln262=) c.769C= (p.Gln257=) | |
16 | g.56975134C>G | CA396004145 | CETP | c.964C>G (p.Gln322Glu) c.784C>G (p.Gln262Glu) c.769C>G (p.Gln257Glu) | gnomAD v4 |
16 | g.56975134C>T | CA8071168 | CETP | c.964C>T (p.Gln322Ter) c.784C>T (p.Gln262Ter) c.769C>T (p.Gln257Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56975135A>C | CA396004146 | CETP | c.965A>C (p.Gln322Pro) c.785A>C (p.Gln262Pro) c.770A>C (p.Gln257Pro) | |
16 | g.56975135A>G | CA396004147 | CETP | c.965A>G (p.Gln322Arg) c.785A>G (p.Gln262Arg) c.770A>G (p.Gln257Arg) | |
16 | g.56975135A>T | CA396004148 | CETP | c.965A>T (p.Gln322Leu) c.785A>T (p.Gln262Leu) c.770A>T (p.Gln257Leu) | |
16 | g.56975135_56975136del | CA2576002911 | CETP | c.965_966del (p.Gln322ArgfsTer?) c.785_786del (p.Gln262ArgfsTer?) c.770_771del (p.Gln257ArgfsTer?) | |
16 | g.56975136G>A | CA495620082 | CETP | c.966G>A (p.Gln322=) c.786G>A (p.Gln262=) c.771G>A (p.Gln257=) | |
16 | g.56975136G>C | CA396004149 | CETP | c.966G>C (p.Gln322His) c.786G>C (p.Gln262His) c.771G>C (p.Gln257His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |