Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.67940251_67940263del | CA2633850947 | LCAT | c.965_977del (p.Arg322GlnfsTer?) c.156-188_156-176del c.749_761del (p.Arg250GlnfsTer?) c.703_715del (n.703_715del) | gnomAD v4 |
16 | g.67940261A>C | CA496384108 | LCAT | c.966T>G (p.Arg322=) c.156-187T>G c.750T>G (p.Arg250=) c.704T>G (n.704T>G) | |
16 | g.67940261A>G | CA496384107 | LCAT | c.966T>C (p.Arg322=) c.156-187T>C c.750T>C (p.Arg250=) c.704T>C (n.704T>C) | |
16 | g.67940261A>T | CA496384106 | LCAT | c.966T>A (p.Arg322=) c.156-187T>A c.750T>A (p.Arg250=) c.704T>A (n.704T>A) | |
16 | g.67940262C>A | CA396375957 | LCAT | c.965G>T (p.Arg322Leu) c.156-188G>T c.749G>T (p.Arg250Leu) c.703G>T (n.703G>T) | |
16 | g.67940262C= | CA2229563289 | LCAT | c.965G= (p.Arg322=) c.156-188G= c.749G= (p.Arg250=) c.703G= (n.703G=) | |
16 | g.67940262C>G | CA396375958 | LCAT | c.965G>C (p.Arg322Pro) c.156-188G>C c.749G>C (p.Arg250Pro) c.703G>C (n.703G>C) | |
16 | g.67940262C>T | CA8120926 | LCAT | c.965G>A (p.Arg322His) c.156-188G>A c.749G>A (p.Arg250His) c.703G>A (n.703G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940263G>A | CA396375960 | LCAT | c.964C>T (p.Arg322Cys) c.156-189C>T c.748C>T (p.Arg250Cys) c.702C>T (n.702C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940263G>C | CA396375961 | LCAT | c.964C>G (p.Arg322Gly) c.156-189C>G c.748C>G (p.Arg250Gly) c.702C>G (n.702C>G) | |
16 | g.67940263G= | CA2229563290 | LCAT | c.964C= (p.Arg322=) c.156-189C= c.748C= (p.Arg250=) c.702C= (n.702C=) | |
16 | g.67940263G>T | CA396375959 | LCAT | c.964C>A (p.Arg322Ser) c.156-189C>A c.748C>A (p.Arg250Ser) c.702C>A (n.702C>A) | |
16 | g.67940264T>A | CA496384109 | LCAT | c.963A>T (p.Ser321=) c.156-190A>T c.747A>T (p.Ser249=) c.701A>T (n.701A>T) | |
16 | g.67940264T>C | CA496384110 | LCAT | c.963A>G (p.Ser321=) c.156-190A>G c.747A>G (p.Ser249=) c.701A>G (n.701A>G) | |
16 | g.67940264T>G | CA496384111 | LCAT | c.963A>C (p.Ser321=) c.156-190A>C c.747A>C (p.Ser249=) c.701A>C (n.701A>C) | |
16 | g.67940264_67940266del | CA2576033448 | LCAT | c.961_963del (p.Ser321del) c.156-192_156-190del c.745_747del (p.Ser249del) c.699_701del (n.699_701del) | |
16 | g.67940265G>A | CA396375962 | LCAT | c.962C>T (p.Ser321Leu) c.156-191C>T c.746C>T (p.Ser249Leu) c.700C>T (n.700C>T) | COSMIC |
16 | g.67940265G>C | CA396375963 | LCAT | c.962C>G (p.Ser321Ter) c.156-191C>G c.746C>G (p.Ser249Ter) c.700C>G (n.700C>G) | |
16 | g.67940265G>T | CA396375964 | LCAT | c.962C>A (p.Ser321Ter) c.156-191C>A c.746C>A (p.Ser249Ter) c.700C>A (n.700C>A) | |
16 | g.67940266A>C | CA396375965 | LCAT | c.961T>G (p.Ser321Ala) c.156-192T>G c.745T>G (p.Ser249Ala) c.699T>G (n.699T>G) | |
16 | g.67940266A>G | CA396375966 | LCAT | c.961T>C (p.Ser321Pro) c.156-192T>C c.745T>C (p.Ser249Pro) c.699T>C (n.699T>C) | |
16 | g.67940266A>T | CA396375967 | LCAT | c.961T>A (p.Ser321Thr) c.156-192T>A c.745T>A (p.Ser249Thr) c.699T>A (n.699T>A) | |
16 | g.67940267C>A | CA396375968 | LCAT | c.960G>T (p.Gln320His) c.156-193G>T c.744G>T (p.Gln248His) c.698G>T (n.698G>T) | |
16 | g.67940267C>G | CA396375969 | LCAT | c.960G>C (p.Gln320His) c.156-193G>C c.744G>C (p.Gln248His) c.698G>C (n.698G>C) | |
16 | g.67940267C>T | CA496384112 | LCAT | c.960G>A (p.Gln320=) c.156-193G>A c.744G>A (p.Gln248=) c.698G>A (n.698G>A) | |
16 | g.67940268T>A | CA396375970 | LCAT | c.959A>T (p.Gln320Leu) c.156-194A>T c.743A>T (p.Gln248Leu) c.697A>T (n.697A>T) | |
16 | g.67940268T>C | CA396375971 | LCAT | c.959A>G (p.Gln320Arg) c.156-194A>G c.743A>G (p.Gln248Arg) c.697A>G (n.697A>G) | |
16 | g.67940268T>G | CA396375972 | LCAT | c.959A>C (p.Gln320Pro) c.156-194A>C c.743A>C (p.Gln248Pro) c.697A>C (n.697A>C) | |
16 | g.67940269G>A | CA396375973 | LCAT | c.958C>T (p.Gln320Ter) c.156-195C>T c.742C>T (p.Gln248Ter) c.696C>T (n.696C>T) | gnomAD v4 |
16 | g.67940269G>C | CA396375974 | LCAT | c.958C>G (p.Gln320Glu) c.156-195C>G c.742C>G (p.Gln248Glu) c.696C>G (n.696C>G) | |
16 | g.67940269G>T | CA396375975 | LCAT | c.958C>A (p.Gln320Lys) c.156-195C>A c.742C>A (p.Gln248Lys) c.696C>A (n.696C>A) | |
16 | g.67940270C>A | CA496384113 | LCAT | c.957G>T (p.Leu319=) c.156-196G>T c.741G>T (p.Leu247=) c.695G>T (n.695G>T) | |
16 | g.67940270C>G | CA496384114 | LCAT | c.957G>C (p.Leu319=) c.156-196G>C c.741G>C (p.Leu247=) c.695G>C (n.695G>C) | |
16 | g.67940270C>T | CA496384115 | LCAT | c.957G>A (p.Leu319=) c.156-196G>A c.741G>A (p.Leu247=) c.695G>A (n.695G>A) | gnomAD v4 |
16 | g.67940271A>C | CA396375978 | LCAT | c.956T>G (p.Leu319Arg) c.156-197T>G c.740T>G (p.Leu247Arg) c.694T>G (n.694T>G) | |
16 | g.67940271A>G | CA396375977 | LCAT | c.956T>C (p.Leu319Pro) c.156-197T>C c.740T>C (p.Leu247Pro) c.694T>C (n.694T>C) | dbSNP |
16 | g.67940271A>T | CA396375976 | LCAT | c.956T>A (p.Leu319Gln) c.156-197T>A c.740T>A (p.Leu247Gln) c.694T>A (n.694T>A) | |
16 | g.67940272G>A | CA496384116 | LCAT | c.955C>T (p.Leu319=) c.156-198C>T c.739C>T (p.Leu247=) c.693C>T (n.693C>T) | |
16 | g.67940272G>C | CA396375979 | LCAT | c.955C>G (p.Leu319Val) c.156-198C>G c.739C>G (p.Leu247Val) c.693C>G (n.693C>G) | |
16 | g.67940272G>T | CA396375980 | LCAT | c.955C>A (p.Leu319Met) c.156-198C>A c.739C>A (p.Leu247Met) c.693C>A (n.693C>A) | |
16 | g.67940273C>A | CA396375981 | LCAT | c.954G>T (p.Trp318Cys) c.156-199G>T c.738G>T (p.Trp246Cys) c.692G>T (n.692G>T) | |
16 | g.67940273C>G | CA396375982 | LCAT | c.954G>C (p.Trp318Cys) c.156-199G>C c.738G>C (p.Trp246Cys) c.692G>C (n.692G>C) | |
16 | g.67940273C>T | CA396375983 | LCAT | c.954G>A (p.Trp318Ter) c.156-199G>A c.738G>A (p.Trp246Ter) c.692G>A (n.692G>A) | |
16 | g.67940274C>A | CA396375984 | LCAT | c.953G>T (p.Trp318Leu) c.156-200G>T c.737G>T (p.Trp246Leu) c.691G>T (n.691G>T) | |
16 | g.67940274C>G | CA396375985 | LCAT | c.953G>C (p.Trp318Ser) c.156-200G>C c.737G>C (p.Trp246Ser) c.691G>C (n.691G>C) | |
16 | g.67940274C>T | CA396375986 | LCAT | c.953G>A (p.Trp318Ter) c.156-200G>A c.737G>A (p.Trp246Ter) c.691G>A (n.691G>A) | |
16 | g.67940275A>C | CA396375987 | LCAT | c.952T>G (p.Trp318Gly) c.156-201T>G c.736T>G (p.Trp246Gly) c.690T>G (n.690T>G) | |
16 | g.67940275A>G | CA396375988 | LCAT | c.952T>C (p.Trp318Arg) c.156-201T>C c.736T>C (p.Trp246Arg) c.690T>C (n.690T>C) | |
16 | g.67940275A>T | CA396375989 | LCAT | c.952T>A (p.Trp318Arg) c.156-201T>A c.736T>A (p.Trp246Arg) c.690T>A (n.690T>A) | |
16 | g.67940276C>A | CA396375990 | LCAT | c.951G>T (p.Met317Ile) c.156-202G>T c.735G>T (p.Met245Ile) c.689G>T (n.689G>T) | |
16 | g.67940276C= | CA2229563291 | LCAT | c.951G= (p.Met317=) c.156-202G= c.735G= (p.Met245=) c.689G= (n.689G=) | |
16 | g.67940276C>G | CA396375991 | LCAT | c.951G>C (p.Met317Ile) c.156-202G>C c.735G>C (p.Met245Ile) c.689G>C (n.689G>C) | |
16 | g.67940276C>T | CA116414 | LCAT | c.951G>A (p.Met317Ile) c.156-202G>A c.735G>A (p.Met245Ile) c.689G>A (n.689G>A) | ClinVar dbSNP gnomAD v4 |
16 | g.67940277A= | CA2229563292 | LCAT | c.950T= (p.Met317=) c.156-203T= c.734T= (p.Met245=) c.688T= (n.688T=) | |
16 | g.67940277A>C | CA8120927 | LCAT | c.950T>G (p.Met317Arg) c.156-203T>G c.734T>G (p.Met245Arg) c.688T>G (n.688T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940277A>G | CA396375993 | LCAT | c.950T>C (p.Met317Thr) c.156-203T>C c.734T>C (p.Met245Thr) c.688T>C (n.688T>C) | gnomAD v4 |
16 | g.67940277A>T | CA396375992 | LCAT | c.950T>A (p.Met317Lys) c.156-203T>A c.734T>A (p.Met245Lys) c.688T>A (n.688T>A) | |
16 | g.67940278T>A | CA396375994 | LCAT | c.949A>T (p.Met317Leu) c.156-204A>T c.733A>T (p.Met245Leu) c.687A>T (n.687A>T) | |
16 | g.67940278T>C | CA396375995 | LCAT | c.949A>G (p.Met317Val) c.156-204A>G c.733A>G (p.Met245Val) c.687A>G (n.687A>G) | gnomAD v4 |
16 | g.67940278T>G | CA8120928 | LCAT | c.949A>C (p.Met317Leu) c.156-204A>C c.733A>C (p.Met245Leu) c.687A>C (n.687A>C) | dbSNP ExAC gnomAD v2 |
16 | g.67940278T= | CA2229563293 | LCAT | c.949A= (p.Met317=) c.156-204A= c.733A= (p.Met245=) c.687A= (n.687A=) | |
16 | g.67940279G>A | CA496384117 | LCAT | c.948C>T (p.Tyr316=) c.156-205C>T c.732C>T (p.Tyr244=) c.686C>T (n.686C>T) | gnomAD v4 |
16 | g.67940279G>C | CA396375996 | LCAT | c.948C>G (p.Tyr316Ter) c.156-205C>G c.732C>G (p.Tyr244Ter) c.686C>G (n.686C>G) | |
16 | g.67940279G>T | CA396375997 | LCAT | c.948C>A (p.Tyr316Ter) c.156-205C>A c.732C>A (p.Tyr244Ter) c.686C>A (n.686C>A) | |
16 | g.67940280T>A | CA396376000 | LCAT | c.947A>T (p.Tyr316Phe) c.156-206A>T c.731A>T (p.Tyr244Phe) c.685A>T (n.685A>T) | |
16 | g.67940280T>C | CA396375999 | LCAT | c.947A>G (p.Tyr316Cys) c.156-206A>G c.731A>G (p.Tyr244Cys) c.685A>G (n.685A>G) | |
16 | g.67940280T>G | CA396375998 | LCAT | c.947A>C (p.Tyr316Ser) c.156-206A>C c.731A>C (p.Tyr244Ser) c.685A>C (n.685A>C) | |
16 | g.67940281A>C | CA396376001 | LCAT | c.946T>G (p.Tyr316Asp) c.156-207T>G c.730T>G (p.Tyr244Asp) c.684T>G (n.684T>G) | |
16 | g.67940281A>G | CA396376002 | LCAT | c.946T>C (p.Tyr316His) c.156-207T>C c.730T>C (p.Tyr244His) c.684T>C (n.684T>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.67940281A>T | CA396376003 | LCAT | c.946T>A (p.Tyr316Asn) c.156-207T>A c.730T>A (p.Tyr244Asn) c.684T>A (n.684T>A) | |
16 | g.67940282C>A | CA396376004 | LCAT | c.945G>T (p.Trp315Cys) c.156-208G>T c.729G>T (p.Trp243Cys) c.683G>T (n.683G>T) | |
16 | g.67940282C>G | CA396376005 | LCAT | c.945G>C (p.Trp315Cys) c.156-208G>C c.729G>C (p.Trp243Cys) c.683G>C (n.683G>C) | |
16 | g.67940282C>T | CA396376006 | LCAT | c.945G>A (p.Trp315Ter) c.156-208G>A c.729G>A (p.Trp243Ter) c.683G>A (n.683G>A) | |
16 | g.67940283C>A | CA396376007 | LCAT | c.944G>T (p.Trp315Leu) c.156-209G>T c.728G>T (p.Trp243Leu) c.682G>T (n.682G>T) | |
16 | g.67940283C= | CA2229563294 | LCAT | c.944G= (p.Trp315=) c.156-209G= c.728G= (p.Trp243=) c.682G= (n.682G=) | |
16 | g.67940283C>G | CA396376009 | LCAT | c.944G>C (p.Trp315Ser) c.156-209G>C c.728G>C (p.Trp243Ser) c.682G>C (n.682G>C) | dbSNP |
16 | g.67940283C>T | CA396376008 | LCAT | c.944G>A (p.Trp315Ter) c.156-209G>A c.728G>A (p.Trp243Ter) c.682G>A (n.682G>A) | |
16 | g.67940284A>C | CA396376010 | LCAT | c.943T>G (p.Trp315Gly) c.156-210T>G c.727T>G (p.Trp243Gly) c.681T>G (n.681T>G) | |
16 | g.67940284A>G | CA396376011 | LCAT | c.943T>C (p.Trp315Arg) c.156-210T>C c.727T>C (p.Trp243Arg) c.681T>C (n.681T>C) | ClinVar gnomAD v4 |
16 | g.67940284A>T | CA396376012 | LCAT | c.943T>A (p.Trp315Arg) c.156-210T>A c.727T>A (p.Trp243Arg) c.681T>A (n.681T>A) | |
16 | g.67940285G>A | CA496384118 | LCAT | c.942C>T (p.Gly314=) c.156-211C>T c.726C>T (p.Gly242=) c.680C>T (n.680C>T) | dbSNP |
16 | g.67940285G>C | CA496384119 | LCAT | c.942C>G (p.Gly314=) c.156-211C>G c.726C>G (p.Gly242=) c.680C>G (n.680C>G) | |
16 | g.67940285G= | CA2229563295 | LCAT | c.942C= (p.Gly314=) c.156-211C= c.726C= (p.Gly242=) c.680C= (n.680C=) | |
16 | g.67940285G>T | CA496384120 | LCAT | c.942C>A (p.Gly314=) c.156-211C>A c.726C>A (p.Gly242=) c.680C>A (n.680C>A) | |
16 | g.67940286C>A | CA396376013 | LCAT | c.941G>T (p.Gly314Val) c.156-212G>T c.725G>T (p.Gly242Val) c.679G>T (n.679G>T) | |
16 | g.67940286C>G | CA396376014 | LCAT | c.941G>C (p.Gly314Ala) c.156-212G>C c.725G>C (p.Gly242Ala) c.679G>C (n.679G>C) | |
16 | g.67940286C>T | CA396376015 | LCAT | c.941G>A (p.Gly314Asp) c.156-212G>A c.725G>A (p.Gly242Asp) c.679G>A (n.679G>A) | gnomAD v4 |
16 | g.67940287C>A | CA396376016 | LCAT | c.940G>T (p.Gly314Cys) c.156-213G>T c.724G>T (p.Gly242Cys) c.678G>T (n.678G>T) | |
16 | g.67940287C>G | CA396376017 | LCAT | c.940G>C (p.Gly314Arg) c.156-213G>C c.724G>C (p.Gly242Arg) c.678G>C (n.678G>C) | |
16 | g.67940287C>T | CA396376018 | LCAT | c.940G>A (p.Gly314Ser) c.156-213G>A c.724G>A (p.Gly242Ser) c.678G>A (n.678G>A) | |
16 | g.67940288T>A | CA396376019 | LCAT | c.939A>T (p.Glu313Asp) c.156-214A>T c.723A>T (p.Glu241Asp) c.677A>T (n.677A>T) | |
16 | g.67940288T>C | CA496384121 | LCAT | c.939A>G (p.Glu313=) c.156-214A>G c.723A>G (p.Glu241=) c.677A>G (n.677A>G) | COSMIC |
16 | g.67940288T>G | CA396376020 | LCAT | c.939A>C (p.Glu313Asp) c.156-214A>C c.723A>C (p.Glu241Asp) c.677A>C (n.677A>C) | |
16 | g.67940289T>A | CA396376023 | LCAT | c.938A>T (p.Glu313Val) c.156-215A>T c.722A>T (p.Glu241Val) c.676A>T (n.676A>T) | |
16 | g.67940289T>C | CA396376021 | LCAT | c.938A>G (p.Glu313Gly) c.156-215A>G c.722A>G (p.Glu241Gly) c.676A>G (n.676A>G) | |
16 | g.67940289T>G | CA396376022 | LCAT | c.938A>C (p.Glu313Ala) c.156-215A>C c.722A>C (p.Glu241Ala) c.676A>C (n.676A>C) | |
16 | g.67940290C>A | CA396376024 | LCAT | c.937G>T (p.Glu313Ter) c.156-216G>T c.721G>T (p.Glu241Ter) c.675G>T (n.675G>T) | |
16 | g.67940290C= | CA2229563296 | LCAT | c.937G= (p.Glu313=) c.156-216G= c.721G= (p.Glu241=) c.675G= (n.675G=) | |
16 | g.67940290C>G | CA396376025 | LCAT | c.937G>C (p.Glu313Gln) c.156-216G>C c.721G>C (p.Glu241Gln) c.675G>C (n.675G>C) | |
16 | g.67940290C>T | CA8120929 | LCAT | c.937G>A (p.Glu313Lys) c.156-216G>A c.721G>A (p.Glu241Lys) c.675G>A (n.675G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940291C>A | CA396376026 | LCAT | c.936G>T (p.Glu312Asp) c.156-217G>T c.720G>T (p.Glu240Asp) c.674G>T (n.674G>T) | |
16 | g.67940291C= | CA2229563297 | LCAT | c.936G= (p.Glu312=) c.156-217G= c.720G= (p.Glu240=) c.674G= (n.674G=) | |
16 | g.67940291C>G | CA396376027 | LCAT | c.936G>C (p.Glu312Asp) c.156-217G>C c.720G>C (p.Glu240Asp) c.674G>C (n.674G>C) | |
16 | g.67940291C>T | CA8120930 | LCAT | c.936G>A (p.Glu312=) c.156-217G>A c.720G>A (p.Glu240=) c.674G>A (n.674G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940292T>A | CA396376028 | LCAT | c.935A>T (p.Glu312Val) c.156-218A>T c.719A>T (p.Glu240Val) c.673A>T (n.673A>T) | |
16 | g.67940292T>C | CA396376029 | LCAT | c.935A>G (p.Glu312Gly) c.156-218A>G c.719A>G (p.Glu240Gly) c.673A>G (n.673A>G) | gnomAD v4 |
16 | g.67940292T>G | CA396376030 | LCAT | c.935A>C (p.Glu312Ala) c.156-218A>C c.719A>C (p.Glu240Ala) c.673A>C (n.673A>C) | |
16 | g.67940293C>A | CA396376031 | LCAT | c.934G>T (p.Glu312Ter) c.156-219G>T c.718G>T (p.Glu240Ter) c.672G>T (n.672G>T) | |
16 | g.67940293C= | CA2229563298 | LCAT | c.934G= (p.Glu312=) c.156-219G= c.718G= (p.Glu240=) c.672G= (n.672G=) | |
16 | g.67940293C>G | CA8120931 | LCAT | c.934G>C (p.Glu312Gln) c.156-219G>C c.718G>C (p.Glu240Gln) c.672G>C (n.672G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940293C>T | CA396376032 | LCAT | c.934G>A (p.Glu312Lys) c.156-219G>A c.718G>A (p.Glu240Lys) c.672G>A (n.672G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940293_67940294delinsCA | CA2229563299 | LCAT | c.933_934delinsTG (p.Phe311=) c.156-220_156-219delinsTG c.717_718delinsTG (p.Phe239=) c.671_672delinsTG (n.671_672delinsTG) | |
16 | g.67940294A>C | CA396376033 | LCAT | c.933T>G (p.Phe311Leu) c.156-220T>G c.717T>G (p.Phe239Leu) c.671T>G (n.671T>G) | |
16 | g.67940294A>G | CA496384122 | LCAT | c.933T>C (p.Phe311=) c.156-220T>C c.717T>C (p.Phe239=) c.671T>C (n.671T>C) | |
16 | g.67940294A>T | CA396376034 | LCAT | c.933T>A (p.Phe311Leu) c.156-220T>A c.717T>A (p.Phe239Leu) c.671T>A (n.671T>A) | |
16 | g.67940296del | CA723097531 | LCAT | c.933del (p.Phe311LeufsTer?) c.156-220del c.717del (p.Phe239LeufsTer?) c.671del (n.671del) | dbSNP |
16 | g.67940295A>C | CA396376037 | LCAT | c.932T>G (p.Phe311Cys) c.156-221T>G c.716T>G (p.Phe239Cys) c.670T>G (n.670T>G) | |
16 | g.67940295A>G | CA396376036 | LCAT | c.932T>C (p.Phe311Ser) c.156-221T>C c.716T>C (p.Phe239Ser) c.670T>C (n.670T>C) | |
16 | g.67940295A>T | CA396376035 | LCAT | c.932T>A (p.Phe311Tyr) c.156-221T>A c.716T>A (p.Phe239Tyr) c.670T>A (n.670T>A) | |
16 | g.67940296A>C | CA396376038 | LCAT | c.931T>G (p.Phe311Val) c.156-222T>G c.715T>G (p.Phe239Val) c.669T>G (n.669T>G) | |
16 | g.67940296A>G | CA396376039 | LCAT | c.931T>C (p.Phe311Leu) c.156-222T>C c.715T>C (p.Phe239Leu) c.669T>C (n.669T>C) | |
16 | g.67940296A>T | CA396376040 | LCAT | c.931T>A (p.Phe311Ile) c.156-222T>A c.715T>A (p.Phe239Ile) c.669T>A (n.669T>A) | |
16 | g.67940297G>A | CA496384123 | LCAT | c.930C>T (p.His310=) c.156-223C>T c.714C>T (p.His238=) c.668C>T (n.668C>T) | COSMIC |
16 | g.67940297G>C | CA396376041 | LCAT | c.930C>G (p.His310Gln) c.156-223C>G c.714C>G (p.His238Gln) c.668C>G (n.668C>G) | |
16 | g.67940297G>T | CA396376042 | LCAT | c.930C>A (p.His310Gln) c.156-223C>A c.714C>A (p.His238Gln) c.668C>A (n.668C>A) | |
16 | g.67940298T>A | CA396376043 | LCAT | c.929A>T (p.His310Leu) c.156-224A>T c.713A>T (p.His238Leu) c.667A>T (n.667A>T) | gnomAD v4 |
16 | g.67940298T>C | CA396376044 | LCAT | c.929A>G (p.His310Arg) c.156-224A>G c.713A>G (p.His238Arg) c.667A>G (n.667A>G) | gnomAD v4 |
16 | g.67940298T>G | CA396376045 | LCAT | c.929A>C (p.His310Pro) c.156-224A>C c.713A>C (p.His238Pro) c.667A>C (n.667A>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67940298T= | CA2229563300 | LCAT | c.929A= (p.His310=) c.156-224A= c.713A= (p.His238=) c.667A= (n.667A=) | |
16 | g.67940299G>A | CA396376046 | LCAT | c.928C>T (p.His310Tyr) c.156-225C>T c.712C>T (p.His238Tyr) c.666C>T (n.666C>T) | gnomAD v4 |
16 | g.67940299G>C | CA396376047 | LCAT | c.928C>G (p.His310Asp) c.156-225C>G c.712C>G (p.His238Asp) c.666C>G (n.666C>G) | |
16 | g.67940299G>T | CA396376048 | LCAT | c.928C>A (p.His310Asn) c.156-225C>A c.712C>A (p.His238Asn) c.666C>A (n.666C>A) | |
16 | g.67940300C>A | CA496384124 | LCAT | c.927G>T (p.Leu309=) c.156-226G>T c.711G>T (p.Leu237=) c.665G>T (n.665G>T) | |
16 | g.67940300C= | CA2229563301 | LCAT | c.927G= (p.Leu309=) c.156-226G= c.711G= (p.Leu237=) c.665G= (n.665G=) | |
16 | g.67940300C>G | CA283160899 | LCAT | c.927G>C (p.Leu309=) c.156-226G>C c.711G>C (p.Leu237=) c.665G>C (n.665G>C) | dbSNP |
16 | g.67940300C>T | CA496384125 | LCAT | c.927G>A (p.Leu309=) c.156-226G>A c.711G>A (p.Leu237=) c.665G>A (n.665G>A) | gnomAD v4 |
16 | g.67940301A>C | CA396376049 | LCAT | c.926T>G (p.Leu309Arg) c.156-227T>G c.710T>G (p.Leu237Arg) c.664T>G (n.664T>G) | |
16 | g.67940301A>G | CA396376050 | LCAT | c.926T>C (p.Leu309Pro) c.156-227T>C c.710T>C (p.Leu237Pro) c.664T>C (n.664T>C) | gnomAD v4 |
16 | g.67940301A>T | CA396376051 | LCAT | c.926T>A (p.Leu309Gln) c.156-227T>A c.710T>A (p.Leu237Gln) c.664T>A (n.664T>A) | |
16 | g.67940302G>A | CA8120933 | LCAT | c.925C>T (p.Leu309=) c.156-228C>T c.709C>T (p.Leu237=) c.663C>T (n.663C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940302G>C | CA8120932 | LCAT | c.925C>G (p.Leu309Val) c.156-228C>G c.709C>G (p.Leu237Val) c.663C>G (n.663C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940302G= | CA2229563302 | LCAT | c.925C= (p.Leu309=) c.156-228C= c.709C= (p.Leu237=) c.663C= (n.663C=) | |
16 | g.67940302G>T | CA396376052 | LCAT | c.925C>A (p.Leu309Met) c.156-228C>A c.709C>A (p.Leu237Met) c.663C>A (n.663C>A) | |
16 | g.67940303G>A | CA496384126 | LCAT | c.924C>T (p.Asp308=) c.156-229C>T c.708C>T (p.Asp236=) c.662C>T (n.662C>T) | |
16 | g.67940303G>C | CA396376053 | LCAT | c.924C>G (p.Asp308Glu) c.156-229C>G c.708C>G (p.Asp236Glu) c.662C>G (n.662C>G) | |
16 | g.67940303G>T | CA396376054 | LCAT | c.924C>A (p.Asp308Glu) c.156-229C>A c.708C>A (p.Asp236Glu) c.662C>A (n.662C>A) | gnomAD v4 |
16 | g.67940304T>A | CA396376055 | LCAT | c.923A>T (p.Asp308Val) c.156-230A>T c.707A>T (p.Asp236Val) c.661A>T (n.661A>T) | |
16 | g.67940304T>C | CA396376056 | LCAT | c.923A>G (p.Asp308Gly) c.156-230A>G c.707A>G (p.Asp236Gly) c.661A>G (n.661A>G) | |
16 | g.67940304T>G | CA396376057 | LCAT | c.923A>C (p.Asp308Ala) c.156-230A>C c.707A>C (p.Asp236Ala) c.661A>C (n.661A>C) | |
16 | g.67940305C>A | CA396376058 | LCAT | c.922G>T (p.Asp308Tyr) c.156-231G>T c.706G>T (p.Asp236Tyr) c.660G>T (n.660G>T) | |
16 | g.67940305C>G | CA396376059 | LCAT | c.922G>C (p.Asp308His) c.156-231G>C c.706G>C (p.Asp236His) c.660G>C (n.660G>C) | |
16 | g.67940305C>T | CA396376060 | LCAT | c.922G>A (p.Asp308Asn) c.156-231G>A c.706G>A (p.Asp236Asn) c.660G>A (n.660G>A) | |
16 | g.67940306T>A | CA496384127 | LCAT | c.921A>T (p.Ala307=) c.156-232A>T c.705A>T (p.Ala235=) c.659A>T (n.659A>T) | |
16 | g.67940306T>C | CA496384128 | LCAT | c.921A>G (p.Ala307=) c.156-232A>G c.705A>G (p.Ala235=) c.659A>G (n.659A>G) | |
16 | g.67940306T>G | CA496384129 | LCAT | c.921A>C (p.Ala307=) c.156-232A>C c.705A>C (p.Ala235=) c.659A>C (n.659A>C) | |
16 | g.67940307G>A | CA396376061 | LCAT | c.920C>T (p.Ala307Val) c.156-233C>T c.704C>T (p.Ala235Val) c.658C>T (n.658C>T) | |
16 | g.67940307G>C | CA396376062 | LCAT | c.920C>G (p.Ala307Gly) c.156-233C>G c.704C>G (p.Ala235Gly) c.658C>G (n.658C>G) | |
16 | g.67940307G>T | CA396376063 | LCAT | c.920C>A (p.Ala307Glu) c.156-233C>A c.704C>A (p.Ala235Glu) c.658C>A (n.658C>A) | |
16 | g.67940308C>A | CA396376064 | LCAT | c.919G>T (p.Ala307Ser) c.156-234G>T c.703G>T (p.Ala235Ser) c.657G>T (n.657G>T) | |
16 | g.67940308C>G | CA396376065 | LCAT | c.919G>C (p.Ala307Pro) c.156-234G>C c.703G>C (p.Ala235Pro) c.657G>C (n.657G>C) | |
16 | g.67940308C>T | CA396376066 | LCAT | c.919G>A (p.Ala307Thr) c.156-234G>A c.703G>A (p.Ala235Thr) c.657G>A (n.657G>A) | |
16 | g.67940309A= | CA2229563303 | LCAT | c.918T= (p.Phe306=) c.156-235T= c.702T= (p.Phe234=) c.656T= (n.656T=) | |
16 | g.67940309A>C | CA396376067 | LCAT | c.918T>G (p.Phe306Leu) c.156-235T>G c.702T>G (p.Phe234Leu) c.656T>G (n.656T>G) | |
16 | g.67940309A>G | CA496384130 | LCAT | c.918T>C (p.Phe306=) c.156-235T>C c.702T>C (p.Phe234=) c.656T>C (n.656T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.67940309A>T | CA396376068 | LCAT | c.918T>A (p.Phe306Leu) c.156-235T>A c.702T>A (p.Phe234Leu) c.656T>A (n.656T>A) | |
16 | g.67940310A>C | CA396376069 | LCAT | c.917T>G (p.Phe306Cys) c.156-236T>G c.701T>G (p.Phe234Cys) c.655T>G (n.655T>G) | |
16 | g.67940310A>G | CA396376070 | LCAT | c.917T>C (p.Phe306Ser) c.156-236T>C c.701T>C (p.Phe234Ser) c.655T>C (n.655T>C) | |
16 | g.67940310A>T | CA396376071 | LCAT | c.917T>A (p.Phe306Tyr) c.156-236T>A c.701T>A (p.Phe234Tyr) c.655T>A (n.655T>A) | |
16 | g.67940311A>C | CA396376072 | LCAT | c.916T>G (p.Phe306Val) c.156-237T>G c.700T>G (p.Phe234Val) c.654T>G (n.654T>G) | |
16 | g.67940311A>G | CA396376073 | LCAT | c.916T>C (p.Phe306Leu) c.156-237T>C c.700T>C (p.Phe234Leu) c.654T>C (n.654T>C) | gnomAD v4 |
16 | g.67940311A>T | CA396376074 | LCAT | c.916T>A (p.Phe306Ile) c.156-237T>A c.700T>A (p.Phe234Ile) c.654T>A (n.654T>A) | |
16 | g.67940312G>A | CA496384131 | LCAT | c.915C>T (p.Phe305=) c.156-238C>T c.699C>T (p.Phe233=) c.653C>T (n.653C>T) | |
16 | g.67940312G>C | CA396376075 | LCAT | c.915C>G (p.Phe305Leu) c.156-238C>G c.699C>G (p.Phe233Leu) c.653C>G (n.653C>G) | |
16 | g.67940312G>T | CA396376076 | LCAT | c.915C>A (p.Phe305Leu) c.156-238C>A c.699C>A (p.Phe233Leu) c.653C>A (n.653C>A) | |
16 | g.67940313A>C | CA396376077 | LCAT | c.914T>G (p.Phe305Cys) c.156-239T>G c.698T>G (p.Phe233Cys) c.652T>G (n.652T>G) | |
16 | g.67940313A>G | CA396376078 | LCAT | c.914T>C (p.Phe305Ser) c.156-239T>C c.698T>C (p.Phe233Ser) c.652T>C (n.652T>C) | |
16 | g.67940313A>T | CA396376079 | LCAT | c.914T>A (p.Phe305Tyr) c.156-239T>A c.698T>A (p.Phe233Tyr) c.652T>A (n.652T>A) | gnomAD v4 |
16 | g.67940314A>C | CA396376080 | LCAT | c.913T>G (p.Phe305Val) c.156-240T>G c.697T>G (p.Phe233Val) c.651T>G (n.651T>G) | |
16 | g.67940314A>G | CA396376082 | LCAT | c.913T>C (p.Phe305Leu) c.156-240T>C c.697T>C (p.Phe233Leu) c.651T>C (n.651T>C) | |
16 | g.67940314A>T | CA396376081 | LCAT | c.913T>A (p.Phe305Ile) c.156-240T>A c.697T>A (p.Phe233Ile) c.651T>A (n.651T>A) | |
16 | g.67940315G>A | CA496384132 | LCAT | c.912C>T (p.Arg304=) c.156-241C>T c.696C>T (p.Arg232=) c.650C>T (n.650C>T) | gnomAD v4 |
16 | g.67940315G>C | CA496384134 | LCAT | c.912C>G (p.Arg304=) c.156-241C>G c.696C>G (p.Arg232=) c.650C>G (n.650C>G) | |
16 | g.67940315G>T | CA496384133 | LCAT | c.912C>A (p.Arg304=) c.156-241C>A c.696C>A (p.Arg232=) c.650C>A (n.650C>A) | |
16 | g.67940316C>A | CA396376083 | LCAT | c.911G>T (p.Arg304Leu) c.156-242G>T c.695G>T (p.Arg232Leu) c.649G>T (n.649G>T) | |
16 | g.67940316C= | CA2229563304 | LCAT | c.911G= (p.Arg304=) c.156-242G= c.695G= (p.Arg232=) c.649G= (n.649G=) | |
16 | g.67940316C>G | CA396376085 | LCAT | c.911G>C (p.Arg304Pro) c.156-242G>C c.695G>C (p.Arg232Pro) c.649G>C (n.649G>C) | |
16 | g.67940316C>T | CA396376084 | LCAT | c.911G>A (p.Arg304His) c.156-242G>A c.695G>A (p.Arg232His) c.649G>A (n.649G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.67940317G>A | CA396376086 | LCAT | c.910C>T (p.Arg304Cys) c.156-243C>T c.694C>T (p.Arg232Cys) c.648C>T (n.648C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.67940317G>C | CA396376087 | LCAT | c.910C>G (p.Arg304Gly) c.156-243C>G c.694C>G (p.Arg232Gly) c.648C>G (n.648C>G) | |
16 | g.67940317G= | CA2229563305 | LCAT | c.910C= (p.Arg304=) c.156-243C= c.694C= (p.Arg232=) c.648C= (n.648C=) | |
16 | g.67940317G>T | CA396376088 | LCAT | c.910C>A (p.Arg304Ser) c.156-243C>A c.694C>A (p.Arg232Ser) c.648C>A (n.648C>A) | |
16 | g.67940318T>A | CA396376089 | LCAT | c.909A>T (p.Gln303His) c.156-244A>T c.693A>T (p.Gln231His) c.647A>T (n.647A>T) | |
16 | g.67940318T>C | CA496384135 | LCAT | c.909A>G (p.Gln303=) c.156-244A>G c.693A>G (p.Gln231=) c.647A>G (n.647A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940318T>G | CA396376090 | LCAT | c.909A>C (p.Gln303His) c.156-244A>C c.693A>C (p.Gln231His) c.647A>C (n.647A>C) | |
16 | g.67940318T= | CA2229563306 | LCAT | c.909A= (p.Gln303=) c.156-244A= c.693A= (p.Gln231=) c.647A= (n.647A=) | |
16 | g.67940319T>A | CA396376091 | LCAT | c.908A>T (p.Gln303Leu) c.156-245A>T c.692A>T (p.Gln231Leu) c.646A>T (n.646A>T) | |
16 | g.67940319T>C | CA396376092 | LCAT | c.908A>G (p.Gln303Arg) c.156-245A>G c.692A>G (p.Gln231Arg) c.646A>G (n.646A>G) | |
16 | g.67940319T>G | CA396376093 | LCAT | c.908A>C (p.Gln303Pro) c.156-245A>C c.692A>C (p.Gln231Pro) c.646A>C (n.646A>C) | |
16 | g.67940320G>A | CA396376094 | LCAT | c.907C>T (p.Gln303Ter) c.156-246C>T c.691C>T (p.Gln231Ter) c.645C>T (n.645C>T) | |
16 | g.67940320G>C | CA396376095 | LCAT | c.907C>G (p.Gln303Glu) c.156-246C>G c.691C>G (p.Gln231Glu) c.645C>G (n.645C>G) | |
16 | g.67940320G>T | CA396376096 | LCAT | c.907C>A (p.Gln303Lys) c.156-246C>A c.691C>A (p.Gln231Lys) c.645C>A (n.645C>A) | |
16 | g.67940321G>A | CA496384136 | LCAT | c.906C>T (p.Phe302=) c.156-247C>T c.690C>T (p.Phe230=) c.644C>T (n.644C>T) | |
16 | g.67940321G>C | CA396376097 | LCAT | c.906C>G (p.Phe302Leu) c.156-247C>G c.690C>G (p.Phe230Leu) c.644C>G (n.644C>G) | |
16 | g.67940321G>T | CA396376098 | LCAT | c.906C>A (p.Phe302Leu) c.156-247C>A c.690C>A (p.Phe230Leu) c.644C>A (n.644C>A) | |
16 | g.67940322A>C | CA396376101 | LCAT | c.905T>G (p.Phe302Cys) c.156-248T>G c.689T>G (p.Phe230Cys) c.643T>G (n.643T>G) | |
16 | g.67940322A>G | CA396376100 | LCAT | c.905T>C (p.Phe302Ser) c.156-248T>C c.689T>C (p.Phe230Ser) c.643T>C (n.643T>C) | |
16 | g.67940322A>T | CA396376099 | LCAT | c.905T>A (p.Phe302Tyr) c.156-248T>A c.689T>A (p.Phe230Tyr) c.643T>A (n.643T>A) | |
16 | g.67940323A>C | CA396376102 | LCAT | c.904T>G (p.Phe302Val) c.156-249T>G c.688T>G (p.Phe230Val) c.642T>G (n.642T>G) | gnomAD v4 |
16 | g.67940323A>G | CA396376103 | LCAT | c.904T>C (p.Phe302Leu) c.156-249T>C c.688T>C (p.Phe230Leu) c.642T>C (n.642T>C) | |
16 | g.67940323A>T | CA396376104 | LCAT | c.904T>A (p.Phe302Ile) c.156-249T>A c.688T>A (p.Phe230Ile) c.642T>A (n.642T>A) | |
16 | g.67940324G>A | CA8120934 | LCAT | c.903C>T (p.Asp301=) c.156-250C>T c.687C>T (p.Asp229=) c.641C>T (n.641C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940324G>C | CA396376105 | LCAT | c.903C>G (p.Asp301Glu) c.156-250C>G c.687C>G (p.Asp229Glu) c.641C>G (n.641C>G) | |
16 | g.67940324G= | CA2229563307 | LCAT | c.903C= (p.Asp301=) c.156-250C= c.687C= (p.Asp229=) c.641C= (n.641C=) | |
16 | g.67940324G>T | CA8120935 | LCAT | c.903C>A (p.Asp301Glu) c.156-250C>A c.687C>A (p.Asp229Glu) c.641C>A (n.641C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940325T>A | CA396376106 | LCAT | c.902A>T (p.Asp301Val) c.156-251A>T c.686A>T (p.Asp229Val) c.640A>T (n.640A>T) | |
16 | g.67940325T>C | CA396376107 | LCAT | c.902A>G (p.Asp301Gly) c.156-251A>G c.686A>G (p.Asp229Gly) c.640A>G (n.640A>G) | gnomAD v4 |
16 | g.67940325T>G | CA396376108 | LCAT | c.902A>C (p.Asp301Ala) c.156-251A>C c.686A>C (p.Asp229Ala) c.640A>C (n.640A>C) | |
16 | g.67940326C>A | CA396376109 | LCAT | c.901G>T (p.Asp301Tyr) c.156-252G>T c.685G>T (p.Asp229Tyr) c.639G>T (n.639G>T) | |
16 | g.67940326C= | CA2229563308 | LCAT | c.901G= (p.Asp301=) c.156-252G= c.685G= (p.Asp229=) c.639G= (n.639G=) | |
16 | g.67940326C>G | CA396376110 | LCAT | c.901G>C (p.Asp301His) c.156-252G>C c.685G>C (p.Asp229His) c.639G>C (n.639G>C) | |
16 | g.67940326C>T | CA283160905 | LCAT | c.901G>A (p.Asp301Asn) c.156-252G>A c.685G>A (p.Asp229Asn) c.639G>A (n.639G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.67940327A= | CA2229563309 | LCAT | c.900T= (p.Arg300=) c.156-253T= c.684T= (p.Arg228=) c.638T= (n.638T=) | |
16 | g.67940327A>C | CA496384137 | LCAT | c.900T>G (p.Arg300=) c.156-253T>G c.684T>G (p.Arg228=) c.638T>G (n.638T>G) | gnomAD v4 |
16 | g.67940327A>G | CA283160910 | LCAT | c.900T>C (p.Arg300=) c.156-253T>C c.684T>C (p.Arg228=) c.638T>C (n.638T>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.67940327A>T | CA496384138 | LCAT | c.900T>A (p.Arg300=) c.156-253T>A c.684T>A (p.Arg228=) c.638T>A (n.638T>A) | |
16 | g.67940328C>A | CA396376111 | LCAT | c.899G>T (p.Arg300Leu) c.156-254G>T c.683G>T (p.Arg228Leu) c.637G>T (n.637G>T) | |
16 | g.67940328C= | CA2229563310 | LCAT | c.899G= (p.Arg300=) c.156-254G= c.683G= (p.Arg228=) c.637G= (n.637G=) | |
16 | g.67940328C>G | CA396376112 | LCAT | c.899G>C (p.Arg300Pro) c.156-254G>C c.683G>C (p.Arg228Pro) c.637G>C (n.637G>C) | |
16 | g.67940328C>T | CA8120936 | LCAT | c.899G>A (p.Arg300His) c.156-254G>A c.683G>A (p.Arg228His) c.637G>A (n.637G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940329G>A | CA8120937 | LCAT | c.898C>T (p.Arg300Cys) c.156-255C>T c.682C>T (p.Arg228Cys) c.636C>T (n.636C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.67940329G>C | CA396376113 | LCAT | c.898C>G (p.Arg300Gly) c.156-255C>G c.682C>G (p.Arg228Gly) c.636C>G (n.636C>G) | |
16 | g.67940329G= | CA2229563311 | LCAT | c.898C= (p.Arg300=) c.156-255C= c.682C= (p.Arg228=) c.636C= (n.636C=) | |
16 | g.67940329G>T | CA396376114 | LCAT | c.898C>A (p.Arg300Ser) c.156-255C>A c.682C>A (p.Arg228Ser) c.636C>A (n.636C>A) | |
16 | g.67940330G>A | CA496384141 | LCAT | c.897C>T (p.Gly299=) c.156-256C>T c.681C>T (p.Gly227=) c.635C>T (n.635C>T) | |
16 | g.67940330G>C | CA496384139 | LCAT | c.897C>G (p.Gly299=) c.156-256C>G c.681C>G (p.Gly227=) c.635C>G (n.635C>G) | |
16 | g.67940330G>T | CA496384140 | LCAT | c.897C>A (p.Gly299=) c.156-256C>A c.681C>A (p.Gly227=) c.635C>A (n.635C>A) | |
16 | g.67940331C>A | CA396376115 | LCAT | c.896G>T (p.Gly299Val) c.156-257G>T c.680G>T (p.Gly227Val) c.634G>T (n.634G>T) | |
16 | g.67940331C= | CA2229563312 | LCAT | c.896G= (p.Gly299=) c.156-257G= c.680G= (p.Gly227=) c.634G= (n.634G=) | |
16 | g.67940331C>G | CA396376116 | LCAT | c.896G>C (p.Gly299Ala) c.156-257G>C c.680G>C (p.Gly227Ala) c.634G>C (n.634G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940331C>T | CA396376117 | LCAT | c.896G>A (p.Gly299Asp) c.156-257G>A c.680G>A (p.Gly227Asp) c.634G>A (n.634G>A) | |
16 | g.67940332C>A | CA396376118 | LCAT | c.895G>T (p.Gly299Cys) c.156-258G>T c.679G>T (p.Gly227Cys) c.633G>T (n.633G>T) | |
16 | g.67940332C>G | CA396376119 | LCAT | c.895G>C (p.Gly299Arg) c.156-258G>C c.679G>C (p.Gly227Arg) c.633G>C (n.633G>C) | |
16 | g.67940332C>T | CA396376120 | LCAT | c.895G>A (p.Gly299Ser) c.156-258G>A c.679G>A (p.Gly227Ser) c.633G>A (n.633G>A) | gnomAD v4 |
16 | g.67940333T>A | CA496384142 | LCAT | c.894A>T (p.Thr298=) c.156-259A>T c.678A>T (p.Thr226=) c.632A>T (n.632A>T) | |
16 | g.67940333T>C | CA496384143 | LCAT | c.894A>G (p.Thr298=) c.156-259A>G c.678A>G (p.Thr226=) c.632A>G (n.632A>G) | |
16 | g.67940333T>G | CA496384144 | LCAT | c.894A>C (p.Thr298=) c.156-259A>C c.678A>C (p.Thr226=) c.632A>C (n.632A>C) | |
16 | g.67940334G>A | CA396376121 | LCAT | c.893C>T (p.Thr298Ile) c.156-260C>T c.677C>T (p.Thr226Ile) c.631C>T (n.631C>T) | gnomAD v4 |
16 | g.67940334G>C | CA8120938 | LCAT | c.893C>G (p.Thr298Arg) c.156-260C>G c.677C>G (p.Thr226Arg) c.631C>G (n.631C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940334G= | CA2229563313 | LCAT | c.893C= (p.Thr298=) c.156-260C= c.677C= (p.Thr226=) c.631C= (n.631C=) | |
16 | g.67940334G>T | CA396376122 | LCAT | c.893C>A (p.Thr298Lys) c.156-260C>A c.677C>A (p.Thr226Lys) c.631C>A (n.631C>A) | COSMIC |
16 | g.67940335T>A | CA396376125 | LCAT | c.892A>T (p.Thr298Ser) c.156-261A>T c.676A>T (p.Thr226Ser) c.630A>T (n.630A>T) | |
16 | g.67940335T>C | CA396376123 | LCAT | c.892A>G (p.Thr298Ala) c.156-261A>G c.676A>G (p.Thr226Ala) c.630A>G (n.630A>G) | COSMIC |
16 | g.67940335T>G | CA396376124 | LCAT | c.892A>C (p.Thr298Pro) c.156-261A>C c.676A>C (p.Thr226Pro) c.630A>C (n.630A>C) | |
16 | g.67940336G>A | CA283160935 | LCAT | c.891C>T (p.Tyr297=) c.156-262C>T c.675C>T (p.Tyr225=) c.629C>T (n.629C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.67940336G>C | CA396376126 | LCAT | c.891C>G (p.Tyr297Ter) c.156-262C>G c.675C>G (p.Tyr225Ter) c.629C>G (n.629C>G) | |
16 | g.67940336G= | CA2229563314 | LCAT | c.891C= (p.Tyr297=) c.156-262C= c.675C= (p.Tyr225=) c.629C= (n.629C=) | |
16 | g.67940336G>T | CA396376127 | LCAT | c.891C>A (p.Tyr297Ter) c.156-262C>A c.675C>A (p.Tyr225Ter) c.629C>A (n.629C>A) | |
16 | g.67940337T>A | CA396376128 | LCAT | c.890A>T (p.Tyr297Phe) c.156-263A>T c.674A>T (p.Tyr225Phe) c.628A>T (n.628A>T) | |
16 | g.67940337T>C | CA396376129 | LCAT | c.890A>G (p.Tyr297Cys) c.156-263A>G c.674A>G (p.Tyr225Cys) c.628A>G (n.628A>G) | |
16 | g.67940337T>G | CA396376130 | LCAT | c.890A>C (p.Tyr297Ser) c.156-263A>C c.674A>C (p.Tyr225Ser) c.628A>C (n.628A>C) | |
16 | g.67940338A>C | CA396376131 | LCAT | c.889T>G (p.Tyr297Asp) c.156-264T>G c.673T>G (p.Tyr225Asp) c.627T>G (n.627T>G) | |
16 | g.67940338A>G | CA396376132 | LCAT | c.889T>C (p.Tyr297His) c.156-264T>C c.673T>C (p.Tyr225His) c.627T>C (n.627T>C) | |
16 | g.67940338A>T | CA396376133 | LCAT | c.889T>A (p.Tyr297Asn) c.156-264T>A c.673T>A (p.Tyr225Asn) c.627T>A (n.627T>A) | |
16 | g.67940339G>A | CA496384145 | LCAT | c.888C>T (p.Asn296=) c.156-265C>T c.672C>T (p.Asn224=) c.626C>T (n.626C>T) | gnomAD v4 |
16 | g.67940339G>C | CA396376134 | LCAT | c.888C>G (p.Asn296Lys) c.156-265C>G c.672C>G (p.Asn224Lys) c.626C>G (n.626C>G) | |
16 | g.67940339G>T | CA396376135 | LCAT | c.888C>A (p.Asn296Lys) c.156-265C>A c.672C>A (p.Asn224Lys) c.626C>A (n.626C>A) | |
16 | g.67940340T>A | CA396376138 | LCAT | c.887A>T (p.Asn296Ile) c.156-266A>T c.671A>T (p.Asn224Ile) c.625A>T (n.625A>T) | |
16 | g.67940340T>C | CA396376137 | LCAT | c.887A>G (p.Asn296Ser) c.156-266A>G c.671A>G (p.Asn224Ser) c.625A>G (n.625A>G) | |
16 | g.67940340T>G | CA396376136 | LCAT | c.887A>C (p.Asn296Thr) c.156-266A>C c.671A>C (p.Asn224Thr) c.625A>C (n.625A>C) | |
16 | g.67940341T>A | CA396376139 | LCAT | c.886A>T (p.Asn296Tyr) c.156-267A>T c.670A>T (p.Asn224Tyr) c.624A>T (n.624A>T) | |
16 | g.67940341T>C | CA396376141 | LCAT | c.886A>G (p.Asn296Asp) c.156-267A>G c.670A>G (p.Asn224Asp) c.624A>G (n.624A>G) | gnomAD v4 |
16 | g.67940341T>G | CA396376140 | LCAT | c.886A>C (p.Asn296His) c.156-267A>C c.670A>C (p.Asn224His) c.624A>C (n.624A>C) | |
16 | g.67940342G>A | CA496384146 | LCAT | c.885C>T (p.Phe295=) c.156-268C>T c.669C>T (p.Phe223=) c.623C>T (n.623C>T) | COSMIC |
16 | g.67940342G>C | CA396376142 | LCAT | c.885C>G (p.Phe295Leu) c.156-268C>G c.669C>G (p.Phe223Leu) c.623C>G (n.623C>G) | COSMIC |
16 | g.67940342G= | CA2229563315 | LCAT | c.885C= (p.Phe295=) c.156-268C= c.669C= (p.Phe223=) c.623C= (n.623C=) | |
16 | g.67940342G>T | CA396376143 | LCAT | c.885C>A (p.Phe295Leu) c.156-268C>A c.669C>A (p.Phe223Leu) c.623C>A (n.623C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940343A>C | CA396376144 | LCAT | c.884T>G (p.Phe295Cys) c.156-269T>G c.668T>G (p.Phe223Cys) c.622T>G (n.622T>G) | |
16 | g.67940343A>G | CA396376145 | LCAT | c.884T>C (p.Phe295Ser) c.156-269T>C c.668T>C (p.Phe223Ser) c.622T>C (n.622T>C) | |
16 | g.67940343A>T | CA396376146 | LCAT | c.884T>A (p.Phe295Tyr) c.156-269T>A c.668T>A (p.Phe223Tyr) c.622T>A (n.622T>A) | |
16 | g.67940344A>C | CA396376147 | LCAT | c.883T>G (p.Phe295Val) c.156-270T>G c.667T>G (p.Phe223Val) c.621T>G (n.621T>G) | |
16 | g.67940344A>G | CA396376148 | LCAT | c.883T>C (p.Phe295Leu) c.156-270T>C c.667T>C (p.Phe223Leu) c.621T>C (n.621T>C) | gnomAD v4 |
16 | g.67940344A>T | CA396376149 | LCAT | c.883T>A (p.Phe295Ile) c.156-270T>A c.667T>A (p.Phe223Ile) c.621T>A (n.621T>A) | |
16 | g.67940345G>A | CA496384147 | LCAT | c.882C>T (p.Ser294=) c.156-271C>T c.666C>T (p.Ser222=) c.620C>T (n.620C>T) | |
16 | g.67940345G>C | CA396376150 | LCAT | c.882C>G (p.Ser294Arg) c.156-271C>G c.666C>G (p.Ser222Arg) c.620C>G (n.620C>G) | |
16 | g.67940345G>T | CA396376151 | LCAT | c.882C>A (p.Ser294Arg) c.156-271C>A c.666C>A (p.Ser222Arg) c.620C>A (n.620C>A) | |
16 | g.67940346C>A | CA396376152 | LCAT | c.881G>T (p.Ser294Ile) c.156-272G>T c.665G>T (p.Ser222Ile) c.619G>T (n.619G>T) | |
16 | g.67940346C>G | CA396376153 | LCAT | c.881G>C (p.Ser294Thr) c.156-272G>C c.665G>C (p.Ser222Thr) c.619G>C (n.619G>C) | |
16 | g.67940346C>T | CA396376154 | LCAT | c.881G>A (p.Ser294Asn) c.156-272G>A c.665G>A (p.Ser222Asn) c.619G>A (n.619G>A) | gnomAD v4 |
16 | g.67940347T>A | CA396376155 | LCAT | c.880A>T (p.Ser294Cys) c.156-273A>T c.664A>T (p.Ser222Cys) c.618A>T (n.618A>T) | gnomAD v4 |
16 | g.67940347T>C | CA396376157 | LCAT | c.880A>G (p.Ser294Gly) c.156-273A>G c.664A>G (p.Ser222Gly) c.618A>G (n.618A>G) | |
16 | g.67940347T>G | CA396376156 | LCAT | c.880A>C (p.Ser294Arg) c.156-273A>C c.664A>C (p.Ser222Arg) c.618A>C (n.618A>C) | |
16 | g.67940348G>A | CA8120939 | LCAT | c.879C>T (p.Pro293=) c.156-274C>T c.663C>T (p.Pro221=) c.617C>T (n.617C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940348G>C | CA496383964 | LCAT | c.879C>G (p.Pro293=) c.156-274C>G c.663C>G (p.Pro221=) c.617C>G (n.617C>G) | |
16 | g.67940348G= | CA2229563316 | LCAT | c.879C= (p.Pro293=) c.156-274C= c.663C= (p.Pro221=) c.617C= (n.617C=) | |
16 | g.67940348G>T | CA496383967 | LCAT | c.879C>A (p.Pro293=) c.156-274C>A c.663C>A (p.Pro221=) c.617C>A (n.617C>A) | |
16 | g.67940349G>A | CA396376158 | LCAT | c.878C>T (p.Pro293Leu) c.156-275C>T c.662C>T (p.Pro221Leu) c.616C>T (n.616C>T) | |
16 | g.67940349G>C | CA396376159 | LCAT | c.878C>G (p.Pro293Arg) c.156-275C>G c.662C>G (p.Pro221Arg) c.616C>G (n.616C>G) | |
16 | g.67940349G>T | CA396376160 | LCAT | c.878C>A (p.Pro293His) c.156-275C>A c.662C>A (p.Pro221His) c.616C>A (n.616C>A) | |
16 | g.67940350G>A | CA396376161 | LCAT | c.877C>T (p.Pro293Ser) c.156-276C>T c.661C>T (p.Pro221Ser) c.615C>T (n.615C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67940350G>C | CA396376162 | LCAT | c.877C>G (p.Pro293Ala) c.156-276C>G c.661C>G (p.Pro221Ala) c.615C>G (n.615C>G) | gnomAD v4 |
16 | g.67940350G= | CA2229563317 | LCAT | c.877C= (p.Pro293=) c.156-276C= c.661C= (p.Pro221=) c.615C= (n.615C=) | |
16 | g.67940350G>T | CA396376163 | LCAT | c.877C>A (p.Pro293Thr) c.156-276C>A c.661C>A (p.Pro221Thr) c.615C>A (n.615C>A) | |
16 | g.67940351T>A | CA496383971 | LCAT | c.876A>T (p.Thr292=) c.156-277A>T c.660A>T (p.Thr220=) c.614A>T (n.614A>T) | |
16 | g.67940351T>C | CA496383970 | LCAT | c.876A>G (p.Thr292=) c.156-277A>G c.660A>G (p.Thr220=) c.614A>G (n.614A>G) | gnomAD v4 |
16 | g.67940351T>G | CA496383969 | LCAT | c.876A>C (p.Thr292=) c.156-277A>C c.660A>C (p.Thr220=) c.614A>C (n.614A>C) | dbSNP |
16 | g.67940351T= | CA2229563318 | LCAT | c.876A= (p.Thr292=) c.156-277A= c.660A= (p.Thr220=) c.614A= (n.614A=) | |
16 | g.67940351_67940365delinsTGTGGAAATGAACAC | CA2229563319 | LCAT | c.862_876delinsGTGTTCATTTCCACA (p.Val288=) c.156-291_156-277delinsGTGTTCATTTCCACA c.646_660delinsGTGTTCATTTCCACA (p.Val216=) c.600_614delinsGTGTTCATTTCCACA (n.600_614delinsGTGTTCATTTCCACA) | |
16 | g.67940352G>A | CA396376164 | LCAT | c.875C>T (p.Thr292Ile) c.156-278C>T c.659C>T (p.Thr220Ile) c.613C>T (n.613C>T) | gnomAD v4 |
16 | g.67940352G>C | CA396376165 | LCAT | c.875C>G (p.Thr292Arg) c.156-278C>G c.659C>G (p.Thr220Arg) c.613C>G (n.613C>G) | |
16 | g.67940352G>T | CA396376166 | LCAT | c.875C>A (p.Thr292Lys) c.156-278C>A c.659C>A (p.Thr220Lys) c.613C>A (n.613C>A) | |
16 | g.67940356_67940369del | CA978460279 | LCAT | c.862_875del (p.Val288ThrfsTer9) c.156-291_156-278del c.646_659del (p.Val216ThrfsTer9) c.600_613del (n.600_613del) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.67940353T>A | CA396376169 | LCAT | c.874A>T (p.Thr292Ser) c.156-279A>T c.658A>T (p.Thr220Ser) c.612A>T (n.612A>T) | |
16 | g.67940353T>C | CA396376168 | LCAT | c.874A>G (p.Thr292Ala) c.156-279A>G c.658A>G (p.Thr220Ala) c.612A>G (n.612A>G) | |
16 | g.67940353T>G | CA396376167 | LCAT | c.874A>C (p.Thr292Pro) c.156-279A>C c.658A>C (p.Thr220Pro) c.612A>C (n.612A>C) | |
16 | g.67940354G>A | CA496383976 | LCAT | c.873C>T (p.Ser291=) c.156-280C>T c.657C>T (p.Ser219=) c.611C>T (n.611C>T) | |
16 | g.67940354G>C | CA283160943 | LCAT | c.873C>G (p.Ser291=) c.156-280C>G c.657C>G (p.Ser219=) c.611C>G (n.611C>G) | dbSNP gnomAD v4 |
16 | g.67940354G= | CA2229563320 | LCAT | c.873C= (p.Ser291=) c.156-280C= c.657C= (p.Ser219=) c.611C= (n.611C=) | |
16 | g.67940354G>T | CA496383977 | LCAT | c.873C>A (p.Ser291=) c.156-280C>A c.657C>A (p.Ser219=) c.611C>A (n.611C>A) | |
16 | g.67940355G>A | CA396376170 | LCAT | c.872C>T (p.Ser291Phe) c.156-281C>T c.656C>T (p.Ser219Phe) c.610C>T (n.610C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940355G>C | CA396376171 | LCAT | c.872C>G (p.Ser291Cys) c.156-281C>G c.656C>G (p.Ser219Cys) c.610C>G (n.610C>G) | |
16 | g.67940355G= | CA2229563321 | LCAT | c.872C= (p.Ser291=) c.156-281C= c.656C= (p.Ser219=) c.610C= (n.610C=) | |
16 | g.67940355G>T | CA396376172 | LCAT | c.872C>A (p.Ser291Tyr) c.156-281C>A c.656C>A (p.Ser219Tyr) c.610C>A (n.610C>A) | |
16 | g.67940356A>C | CA396376173 | LCAT | c.871T>G (p.Ser291Ala) c.156-282T>G c.655T>G (p.Ser219Ala) c.609T>G (n.609T>G) | |
16 | g.67940356A>G | CA396376174 | LCAT | c.871T>C (p.Ser291Pro) c.156-282T>C c.655T>C (p.Ser219Pro) c.609T>C (n.609T>C) | |
16 | g.67940356A>T | CA396376175 | LCAT | c.871T>A (p.Ser291Thr) c.156-282T>A c.655T>A (p.Ser219Thr) c.609T>A (n.609T>A) | |
16 | g.67940357A= | CA2229563322 | LCAT | c.870T= (p.Ile290=) c.156-283T= c.654T= (p.Ile218=) c.608T= (n.608T=) | |
16 | g.67940357A>C | CA396376176 | LCAT | c.870T>G (p.Ile290Met) c.156-283T>G c.654T>G (p.Ile218Met) c.608T>G (n.608T>G) | |
16 | g.67940357A>G | CA496383980 | LCAT | c.870T>C (p.Ile290=) c.156-283T>C c.654T>C (p.Ile218=) c.608T>C (n.608T>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67940357A>T | CA283160951 | LCAT | c.870T>A (p.Ile290=) c.156-283T>A c.654T>A (p.Ile218=) c.608T>A (n.608T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940357_67940359dup | CA2573054258 | LCAT | c.868_870dup (p.Ile290_Ser291insIle) c.156-285_156-283dup c.652_654dup (p.Ile218_Ser219insIle) c.606_608dup (n.606_608dup) | ClinVar dbSNP |
16 | g.67940358A= | CA2229563323 | LCAT | c.869T= (p.Ile290=) c.156-284T= c.653T= (p.Ile218=) c.607T= (n.607T=) | |
16 | g.67940358A>C | CA396376177 | LCAT | c.869T>G (p.Ile290Ser) c.156-284T>G c.653T>G (p.Ile218Ser) c.607T>G (n.607T>G) | |
16 | g.67940358A>G | CA396376178 | LCAT | c.869T>C (p.Ile290Thr) c.156-284T>C c.653T>C (p.Ile218Thr) c.607T>C (n.607T>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.67940358A>T | CA396376179 | LCAT | c.869T>A (p.Ile290Asn) c.156-284T>A c.653T>A (p.Ile218Asn) c.607T>A (n.607T>A) | |
16 | g.67940359T>A | CA396376180 | LCAT | c.868A>T (p.Ile290Phe) c.156-285A>T c.652A>T (p.Ile218Phe) c.606A>T (n.606A>T) | |
16 | g.67940359T>C | CA8120940 | LCAT | c.868A>G (p.Ile290Val) c.156-285A>G c.652A>G (p.Ile218Val) c.606A>G (n.606A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.67940359T>G | CA396376181 | LCAT | c.868A>C (p.Ile290Leu) c.156-285A>C c.652A>C (p.Ile218Leu) c.606A>C (n.606A>C) | |
16 | g.67940359T= | CA2229563324 | LCAT | c.868A= (p.Ile290=) c.156-285A= c.652A= (p.Ile218=) c.606A= (n.606A=) | |
16 | g.67940360G>A | CA496383986 | LCAT | c.867C>T (p.Phe289=) c.156-286C>T c.651C>T (p.Phe217=) c.605C>T (n.605C>T) | gnomAD v4 COSMIC |
16 | g.67940360G>C | CA396376182 | LCAT | c.867C>G (p.Phe289Leu) c.156-286C>G c.651C>G (p.Phe217Leu) c.605C>G (n.605C>G) | |
16 | g.67940360G= | CA2229563325 | LCAT | c.867C= (p.Phe289=) c.156-286C= c.651C= (p.Phe217=) c.605C= (n.605C=) | |
16 | g.67940360G>T | CA8120941 | LCAT | c.867C>A (p.Phe289Leu) c.156-286C>A c.651C>A (p.Phe217Leu) c.605C>A (n.605C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.67940361A>C | CA396376183 | LCAT | c.866T>G (p.Phe289Cys) c.156-287T>G c.650T>G (p.Phe217Cys) c.604T>G (n.604T>G) | |
16 | g.67940361A>G | CA396376184 | LCAT | c.866T>C (p.Phe289Ser) c.156-287T>C c.650T>C (p.Phe217Ser) c.604T>C (n.604T>C) | |
16 | g.67940361A>T | CA396376185 | LCAT | c.866T>A (p.Phe289Tyr) c.156-287T>A c.650T>A (p.Phe217Tyr) c.604T>A (n.604T>A) |