Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.51748070T>A | CA450613413 | PKHD1 | c.9546A>T (p.Val3182=) c.9417A>T (p.Val3139=) c.9408A>T (p.Val3136=) c.8904A>T (p.Val2968=) c.8835A>T (p.Val2945=) c.3621A>T (p.Val1207=) c.9471A>T (p.Val3157=) c.9351A>T (p.Val3117=) c.9282A>T (p.Val3094=) c.7686A>T (p.Val2562=) n.9822A>T | |
6 | g.51748070T>C | CA3851375 | PKHD1 | c.9546A>G (p.Val3182=) c.9417A>G (p.Val3139=) c.9408A>G (p.Val3136=) c.8904A>G (p.Val2968=) c.8835A>G (p.Val2945=) c.3621A>G (p.Val1207=) c.9471A>G (p.Val3157=) c.9351A>G (p.Val3117=) c.9282A>G (p.Val3094=) c.7686A>G (p.Val2562=) n.9822A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748070T>G | CA450613414 | PKHD1 | c.9546A>C (p.Val3182=) c.9417A>C (p.Val3139=) c.9408A>C (p.Val3136=) c.8904A>C (p.Val2968=) c.8835A>C (p.Val2945=) c.3621A>C (p.Val1207=) c.9471A>C (p.Val3157=) c.9351A>C (p.Val3117=) c.9282A>C (p.Val3094=) c.7686A>C (p.Val2562=) n.9822A>C | |
6 | g.51748070T= | CA1628502444 | PKHD1 | c.9546A= (p.Val3182=) c.9417A= (p.Val3139=) c.9408A= (p.Val3136=) c.8904A= (p.Val2968=) c.8835A= (p.Val2945=) c.3621A= (p.Val1207=) c.9471A= (p.Val3157=) c.9351A= (p.Val3117=) c.9282A= (p.Val3094=) c.7686A= (p.Val2562=) n.9822A= | |
6 | g.51748071A>C | CA364420831 | PKHD1 | c.9545T>G (p.Val3182Gly) c.9416T>G (p.Val3139Gly) c.9407T>G (p.Val3136Gly) c.8903T>G (p.Val2968Gly) c.8834T>G (p.Val2945Gly) c.3620T>G (p.Val1207Gly) c.9470T>G (p.Val3157Gly) c.9350T>G (p.Val3117Gly) c.9281T>G (p.Val3094Gly) c.7685T>G (p.Val2562Gly) n.9821T>G | |
6 | g.51748071A>G | CA364420832 | PKHD1 | c.9545T>C (p.Val3182Ala) c.9416T>C (p.Val3139Ala) c.9407T>C (p.Val3136Ala) c.8903T>C (p.Val2968Ala) c.8834T>C (p.Val2945Ala) c.3620T>C (p.Val1207Ala) c.9470T>C (p.Val3157Ala) c.9350T>C (p.Val3117Ala) c.9281T>C (p.Val3094Ala) c.7685T>C (p.Val2562Ala) n.9821T>C | |
6 | g.51748071A>T | CA364420833 | PKHD1 | c.9545T>A (p.Val3182Glu) c.9416T>A (p.Val3139Glu) c.9407T>A (p.Val3136Glu) c.8903T>A (p.Val2968Glu) c.8834T>A (p.Val2945Glu) c.3620T>A (p.Val1207Glu) c.9470T>A (p.Val3157Glu) c.9350T>A (p.Val3117Glu) c.9281T>A (p.Val3094Glu) c.7685T>A (p.Val2562Glu) n.9821T>A | |
6 | g.51748072C>A | CA364420835 | PKHD1 | c.9544G>T (p.Val3182Leu) c.9415G>T (p.Val3139Leu) c.9406G>T (p.Val3136Leu) c.8902G>T (p.Val2968Leu) c.8833G>T (p.Val2945Leu) c.3619G>T (p.Val1207Leu) c.9469G>T (p.Val3157Leu) c.9349G>T (p.Val3117Leu) c.9280G>T (p.Val3094Leu) c.7684G>T (p.Val2562Leu) n.9820G>T | |
6 | g.51748072C= | CA1628502455 | PKHD1 | c.9544G= (p.Val3182=) c.9415G= (p.Val3139=) c.9406G= (p.Val3136=) c.8902G= (p.Val2968=) c.8833G= (p.Val2945=) c.3619G= (p.Val1207=) c.9469G= (p.Val3157=) c.9349G= (p.Val3117=) c.9280G= (p.Val3094=) c.7684G= (p.Val2562=) n.9820G= | |
6 | g.51748072C>G | CA364420834 | PKHD1 | c.9544G>C (p.Val3182Leu) c.9415G>C (p.Val3139Leu) c.9406G>C (p.Val3136Leu) c.8902G>C (p.Val2968Leu) c.8833G>C (p.Val2945Leu) c.3619G>C (p.Val1207Leu) c.9469G>C (p.Val3157Leu) c.9349G>C (p.Val3117Leu) c.9280G>C (p.Val3094Leu) c.7684G>C (p.Val2562Leu) n.9820G>C | |
6 | g.51748072C>T | CA3851376 | PKHD1 | c.9544G>A (p.Val3182Ile) c.9415G>A (p.Val3139Ile) c.9406G>A (p.Val3136Ile) c.8902G>A (p.Val2968Ile) c.8833G>A (p.Val2945Ile) c.3619G>A (p.Val1207Ile) c.9469G>A (p.Val3157Ile) c.9349G>A (p.Val3117Ile) c.9280G>A (p.Val3094Ile) c.7684G>A (p.Val2562Ile) n.9820G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748073T>A | CA450613416 | PKHD1 | c.9543A>T (p.Ala3181=) c.9414A>T (p.Ala3138=) c.9405A>T (p.Ala3135=) c.8901A>T (p.Ala2967=) c.8832A>T (p.Ala2944=) c.3618A>T (p.Ala1206=) c.9468A>T (p.Ala3156=) c.9348A>T (p.Ala3116=) c.9279A>T (p.Ala3093=) c.7683A>T (p.Ala2561=) n.9819A>T | |
6 | g.51748073T>C | CA450613417 | PKHD1 | c.9543A>G (p.Ala3181=) c.9414A>G (p.Ala3138=) c.9405A>G (p.Ala3135=) c.8901A>G (p.Ala2967=) c.8832A>G (p.Ala2944=) c.3618A>G (p.Ala1206=) c.9468A>G (p.Ala3156=) c.9348A>G (p.Ala3116=) c.9279A>G (p.Ala3093=) c.7683A>G (p.Ala2561=) n.9819A>G | ClinVar dbSNP |
6 | g.51748073T>G | CA450613419 | PKHD1 | c.9543A>C (p.Ala3181=) c.9414A>C (p.Ala3138=) c.9405A>C (p.Ala3135=) c.8901A>C (p.Ala2967=) c.8832A>C (p.Ala2944=) c.3618A>C (p.Ala1206=) c.9468A>C (p.Ala3156=) c.9348A>C (p.Ala3116=) c.9279A>C (p.Ala3093=) c.7683A>C (p.Ala2561=) n.9819A>C | |
6 | g.51748073_51748076delinsAAA | CA2580075436 | PKHD1 | c.9540_9543delinsTTT (p.Leu3180PhefsTer3) c.9411_9414delinsTTT (p.Leu3137PhefsTer3) c.9402_9405delinsTTT (p.Leu3134PhefsTer3) c.8898_8901delinsTTT (p.Leu2966PhefsTer3) c.8829_8832delinsTTT (p.Leu2943PhefsTer3) c.3615_3618delinsTTT (p.Leu1205PhefsTer3) c.9465_9468delinsTTT (p.Leu3155PhefsTer3) c.9345_9348delinsTTT (p.Leu3115PhefsTer3) c.9276_9279delinsTTT (p.Leu3092PhefsTer3) c.7680_7683delinsTTT (p.Leu2560PhefsTer3) n.9816_9819delinsTTT | ClinVar |
6 | g.51748074G>A | CA364420838 | PKHD1 | c.9542C>T (p.Ala3181Val) c.9413C>T (p.Ala3138Val) c.9404C>T (p.Ala3135Val) c.8900C>T (p.Ala2967Val) c.8831C>T (p.Ala2944Val) c.3617C>T (p.Ala1206Val) c.9467C>T (p.Ala3156Val) c.9347C>T (p.Ala3116Val) c.9278C>T (p.Ala3093Val) c.7682C>T (p.Ala2561Val) n.9818C>T | |
6 | g.51748074G>C | CA364420836 | PKHD1 | c.9542C>G (p.Ala3181Gly) c.9413C>G (p.Ala3138Gly) c.9404C>G (p.Ala3135Gly) c.8900C>G (p.Ala2967Gly) c.8831C>G (p.Ala2944Gly) c.3617C>G (p.Ala1206Gly) c.9467C>G (p.Ala3156Gly) c.9347C>G (p.Ala3116Gly) c.9278C>G (p.Ala3093Gly) c.7682C>G (p.Ala2561Gly) n.9818C>G | |
6 | g.51748074G>T | CA364420837 | PKHD1 | c.9542C>A (p.Ala3181Glu) c.9413C>A (p.Ala3138Glu) c.9404C>A (p.Ala3135Glu) c.8900C>A (p.Ala2967Glu) c.8831C>A (p.Ala2944Glu) c.3617C>A (p.Ala1206Glu) c.9467C>A (p.Ala3156Glu) c.9347C>A (p.Ala3116Glu) c.9278C>A (p.Ala3093Glu) c.7682C>A (p.Ala2561Glu) n.9818C>A | |
6 | g.51748075C>A | CA364420839 | PKHD1 | c.9541G>T (p.Ala3181Ser) c.9412G>T (p.Ala3138Ser) c.9403G>T (p.Ala3135Ser) c.8899G>T (p.Ala2967Ser) c.8830G>T (p.Ala2944Ser) c.3616G>T (p.Ala1206Ser) c.9466G>T (p.Ala3156Ser) c.9346G>T (p.Ala3116Ser) c.9277G>T (p.Ala3093Ser) c.7681G>T (p.Ala2561Ser) n.9817G>T | |
6 | g.51748075C= | CA1628502461 | PKHD1 | c.9541G= (p.Ala3181=) c.9412G= (p.Ala3138=) c.9403G= (p.Ala3135=) c.8899G= (p.Ala2967=) c.8830G= (p.Ala2944=) c.3616G= (p.Ala1206=) c.9466G= (p.Ala3156=) c.9346G= (p.Ala3116=) c.9277G= (p.Ala3093=) c.7681G= (p.Ala2561=) n.9817G= | |
6 | g.51748075C>G | CA364420840 | PKHD1 | c.9541G>C (p.Ala3181Pro) c.9412G>C (p.Ala3138Pro) c.9403G>C (p.Ala3135Pro) c.8899G>C (p.Ala2967Pro) c.8830G>C (p.Ala2944Pro) c.3616G>C (p.Ala1206Pro) c.9466G>C (p.Ala3156Pro) c.9346G>C (p.Ala3116Pro) c.9277G>C (p.Ala3093Pro) c.7681G>C (p.Ala2561Pro) n.9817G>C | |
6 | g.51748075C>T | CA3851377 | PKHD1 | c.9541G>A (p.Ala3181Thr) c.9412G>A (p.Ala3138Thr) c.9403G>A (p.Ala3135Thr) c.8899G>A (p.Ala2967Thr) c.8830G>A (p.Ala2944Thr) c.3616G>A (p.Ala1206Thr) c.9466G>A (p.Ala3156Thr) c.9346G>A (p.Ala3116Thr) c.9277G>A (p.Ala3093Thr) c.7681G>A (p.Ala2561Thr) n.9817G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748076C>A | CA364420841 | PKHD1 | c.9540G>T (p.Leu3180Phe) c.9411G>T (p.Leu3137Phe) c.9402G>T (p.Leu3134Phe) c.8898G>T (p.Leu2966Phe) c.8829G>T (p.Leu2943Phe) c.3615G>T (p.Leu1205Phe) c.9465G>T (p.Leu3155Phe) c.9345G>T (p.Leu3115Phe) c.9276G>T (p.Leu3092Phe) c.7680G>T (p.Leu2560Phe) n.9816G>T | |
6 | g.51748076C>G | CA364420842 | PKHD1 | c.9540G>C (p.Leu3180Phe) c.9411G>C (p.Leu3137Phe) c.9402G>C (p.Leu3134Phe) c.8898G>C (p.Leu2966Phe) c.8829G>C (p.Leu2943Phe) c.3615G>C (p.Leu1205Phe) c.9465G>C (p.Leu3155Phe) c.9345G>C (p.Leu3115Phe) c.9276G>C (p.Leu3092Phe) c.7680G>C (p.Leu2560Phe) n.9816G>C | |
6 | g.51748076C>T | CA450613420 | PKHD1 | c.9540G>A (p.Leu3180=) c.9411G>A (p.Leu3137=) c.9402G>A (p.Leu3134=) c.8898G>A (p.Leu2966=) c.8829G>A (p.Leu2943=) c.3615G>A (p.Leu1205=) c.9465G>A (p.Leu3155=) c.9345G>A (p.Leu3115=) c.9276G>A (p.Leu3092=) c.7680G>A (p.Leu2560=) n.9816G>A | |
6 | g.51748077A>C | CA364420843 | PKHD1 | c.9539T>G (p.Leu3180Trp) c.9410T>G (p.Leu3137Trp) c.9401T>G (p.Leu3134Trp) c.8897T>G (p.Leu2966Trp) c.8828T>G (p.Leu2943Trp) c.3614T>G (p.Leu1205Trp) c.9464T>G (p.Leu3155Trp) c.9344T>G (p.Leu3115Trp) c.9275T>G (p.Leu3092Trp) c.7679T>G (p.Leu2560Trp) n.9815T>G | |
6 | g.51748077A>G | CA364420844 | PKHD1 | c.9539T>C (p.Leu3180Ser) c.9410T>C (p.Leu3137Ser) c.9401T>C (p.Leu3134Ser) c.8897T>C (p.Leu2966Ser) c.8828T>C (p.Leu2943Ser) c.3614T>C (p.Leu1205Ser) c.9464T>C (p.Leu3155Ser) c.9344T>C (p.Leu3115Ser) c.9275T>C (p.Leu3092Ser) c.7679T>C (p.Leu2560Ser) n.9815T>C | |
6 | g.51748077A>T | CA364420845 | PKHD1 | c.9539T>A (p.Leu3180Ter) c.9410T>A (p.Leu3137Ter) c.9401T>A (p.Leu3134Ter) c.8897T>A (p.Leu2966Ter) c.8828T>A (p.Leu2943Ter) c.3614T>A (p.Leu1205Ter) c.9464T>A (p.Leu3155Ter) c.9344T>A (p.Leu3115Ter) c.9275T>A (p.Leu3092Ter) c.7679T>A (p.Leu2560Ter) n.9815T>A | |
6 | g.51748078A>C | CA364420846 | PKHD1 | c.9538T>G (p.Leu3180Val) c.9409T>G (p.Leu3137Val) c.9400T>G (p.Leu3134Val) c.8896T>G (p.Leu2966Val) c.8827T>G (p.Leu2943Val) c.3613T>G (p.Leu1205Val) c.9463T>G (p.Leu3155Val) c.9343T>G (p.Leu3115Val) c.9274T>G (p.Leu3092Val) c.7678T>G (p.Leu2560Val) n.9814T>G | |
6 | g.51748078A>G | CA450613422 | PKHD1 | c.9538T>C (p.Leu3180=) c.9409T>C (p.Leu3137=) c.9400T>C (p.Leu3134=) c.8896T>C (p.Leu2966=) c.8827T>C (p.Leu2943=) c.3613T>C (p.Leu1205=) c.9463T>C (p.Leu3155=) c.9343T>C (p.Leu3115=) c.9274T>C (p.Leu3092=) c.7678T>C (p.Leu2560=) n.9814T>C | |
6 | g.51748078A>T | CA364420847 | PKHD1 | c.9538T>A (p.Leu3180Met) c.9409T>A (p.Leu3137Met) c.9400T>A (p.Leu3134Met) c.8896T>A (p.Leu2966Met) c.8827T>A (p.Leu2943Met) c.3613T>A (p.Leu1205Met) c.9463T>A (p.Leu3155Met) c.9343T>A (p.Leu3115Met) c.9274T>A (p.Leu3092Met) c.7678T>A (p.Leu2560Met) n.9814T>A | |
6 | g.51748079A>C | CA450613423 | PKHD1 | c.9537T>G (p.Leu3179=) c.9408T>G (p.Leu3136=) c.9399T>G (p.Leu3133=) c.8895T>G (p.Leu2965=) c.8826T>G (p.Leu2942=) c.3612T>G (p.Leu1204=) c.9462T>G (p.Leu3154=) c.9342T>G (p.Leu3114=) c.9273T>G (p.Leu3091=) c.7677T>G (p.Leu2559=) n.9813T>G | |
6 | g.51748079A>G | CA450613424 | PKHD1 | c.9537T>C (p.Leu3179=) c.9408T>C (p.Leu3136=) c.9399T>C (p.Leu3133=) c.8895T>C (p.Leu2965=) c.8826T>C (p.Leu2942=) c.3612T>C (p.Leu1204=) c.9462T>C (p.Leu3154=) c.9342T>C (p.Leu3114=) c.9273T>C (p.Leu3091=) c.7677T>C (p.Leu2559=) n.9813T>C | ClinVar dbSNP |
6 | g.51748079A>T | CA450613425 | PKHD1 | c.9537T>A (p.Leu3179=) c.9408T>A (p.Leu3136=) c.9399T>A (p.Leu3133=) c.8895T>A (p.Leu2965=) c.8826T>A (p.Leu2942=) c.3612T>A (p.Leu1204=) c.9462T>A (p.Leu3154=) c.9342T>A (p.Leu3114=) c.9273T>A (p.Leu3091=) c.7677T>A (p.Leu2559=) n.9813T>A | |
6 | g.51748080A>C | CA364420850 | PKHD1 | c.9536T>G (p.Leu3179Arg) c.9407T>G (p.Leu3136Arg) c.9398T>G (p.Leu3133Arg) c.8894T>G (p.Leu2965Arg) c.8825T>G (p.Leu2942Arg) c.3611T>G (p.Leu1204Arg) c.9461T>G (p.Leu3154Arg) c.9341T>G (p.Leu3114Arg) c.9272T>G (p.Leu3091Arg) c.7676T>G (p.Leu2559Arg) n.9812T>G | |
6 | g.51748080A>G | CA364420849 | PKHD1 | c.9536T>C (p.Leu3179Pro) c.9407T>C (p.Leu3136Pro) c.9398T>C (p.Leu3133Pro) c.8894T>C (p.Leu2965Pro) c.8825T>C (p.Leu2942Pro) c.3611T>C (p.Leu1204Pro) c.9461T>C (p.Leu3154Pro) c.9341T>C (p.Leu3114Pro) c.9272T>C (p.Leu3091Pro) c.7676T>C (p.Leu2559Pro) n.9812T>C | |
6 | g.51748080A>T | CA364420848 | PKHD1 | c.9536T>A (p.Leu3179His) c.9407T>A (p.Leu3136His) c.9398T>A (p.Leu3133His) c.8894T>A (p.Leu2965His) c.8825T>A (p.Leu2942His) c.3611T>A (p.Leu1204His) c.9461T>A (p.Leu3154His) c.9341T>A (p.Leu3114His) c.9272T>A (p.Leu3091His) c.7676T>A (p.Leu2559His) n.9812T>A | |
6 | g.51748081G>A | CA138896103 | PKHD1 | c.9535C>T (p.Leu3179Phe) c.9406C>T (p.Leu3136Phe) c.9397C>T (p.Leu3133Phe) c.8893C>T (p.Leu2965Phe) c.8824C>T (p.Leu2942Phe) c.3610C>T (p.Leu1204Phe) c.9460C>T (p.Leu3154Phe) c.9340C>T (p.Leu3114Phe) c.9271C>T (p.Leu3091Phe) c.7675C>T (p.Leu2559Phe) n.9811C>T | dbSNP gnomAD v4 |
6 | g.51748081G>C | CA364420851 | PKHD1 | c.9535C>G (p.Leu3179Val) c.9406C>G (p.Leu3136Val) c.9397C>G (p.Leu3133Val) c.8893C>G (p.Leu2965Val) c.8824C>G (p.Leu2942Val) c.3610C>G (p.Leu1204Val) c.9460C>G (p.Leu3154Val) c.9340C>G (p.Leu3114Val) c.9271C>G (p.Leu3091Val) c.7675C>G (p.Leu2559Val) n.9811C>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748081G= | CA1628502465 | PKHD1 | c.9535C= (p.Leu3179=) c.9406C= (p.Leu3136=) c.9397C= (p.Leu3133=) c.8893C= (p.Leu2965=) c.8824C= (p.Leu2942=) c.3610C= (p.Leu1204=) c.9460C= (p.Leu3154=) c.9340C= (p.Leu3114=) c.9271C= (p.Leu3091=) c.7675C= (p.Leu2559=) n.9811C= | |
6 | g.51748081G>T | CA364420852 | PKHD1 | c.9535C>A (p.Leu3179Ile) c.9406C>A (p.Leu3136Ile) c.9397C>A (p.Leu3133Ile) c.8893C>A (p.Leu2965Ile) c.8824C>A (p.Leu2942Ile) c.3610C>A (p.Leu1204Ile) c.9460C>A (p.Leu3154Ile) c.9340C>A (p.Leu3114Ile) c.9271C>A (p.Leu3091Ile) c.7675C>A (p.Leu2559Ile) n.9811C>A | |
6 | g.51748082A>C | CA450613429 | PKHD1 | c.9534T>G (p.Gly3178=) c.9405T>G (p.Gly3135=) c.9396T>G (p.Gly3132=) c.8892T>G (p.Gly2964=) c.8823T>G (p.Gly2941=) c.3609T>G (p.Gly1203=) c.9459T>G (p.Gly3153=) c.9339T>G (p.Gly3113=) c.9270T>G (p.Gly3090=) c.7674T>G (p.Gly2558=) n.9810T>G | |
6 | g.51748082A>G | CA450613426 | PKHD1 | c.9534T>C (p.Gly3178=) c.9405T>C (p.Gly3135=) c.9396T>C (p.Gly3132=) c.8892T>C (p.Gly2964=) c.8823T>C (p.Gly2941=) c.3609T>C (p.Gly1203=) c.9459T>C (p.Gly3153=) c.9339T>C (p.Gly3113=) c.9270T>C (p.Gly3090=) c.7674T>C (p.Gly2558=) n.9810T>C | |
6 | g.51748082A>T | CA450613428 | PKHD1 | c.9534T>A (p.Gly3178=) c.9405T>A (p.Gly3135=) c.9396T>A (p.Gly3132=) c.8892T>A (p.Gly2964=) c.8823T>A (p.Gly2941=) c.3609T>A (p.Gly1203=) c.9459T>A (p.Gly3153=) c.9339T>A (p.Gly3113=) c.9270T>A (p.Gly3090=) c.7674T>A (p.Gly2558=) n.9810T>A | |
6 | g.51748083C>A | CA364420853 | PKHD1 | c.9533G>T (p.Gly3178Val) c.9404G>T (p.Gly3135Val) c.9395G>T (p.Gly3132Val) c.8891G>T (p.Gly2964Val) c.8822G>T (p.Gly2941Val) c.3608G>T (p.Gly1203Val) c.9458G>T (p.Gly3153Val) c.9338G>T (p.Gly3113Val) c.9269G>T (p.Gly3090Val) c.7673G>T (p.Gly2558Val) n.9809G>T | dbSNP |
6 | g.51748083C= | CA1628502470 | PKHD1 | c.9533G= (p.Gly3178=) c.9404G= (p.Gly3135=) c.9395G= (p.Gly3132=) c.8891G= (p.Gly2964=) c.8822G= (p.Gly2941=) c.3608G= (p.Gly1203=) c.9458G= (p.Gly3153=) c.9338G= (p.Gly3113=) c.9269G= (p.Gly3090=) c.7673G= (p.Gly2558=) n.9809G= | |
6 | g.51748083C>G | CA364420854 | PKHD1 | c.9533G>C (p.Gly3178Ala) c.9404G>C (p.Gly3135Ala) c.9395G>C (p.Gly3132Ala) c.8891G>C (p.Gly2964Ala) c.8822G>C (p.Gly2941Ala) c.3608G>C (p.Gly1203Ala) c.9458G>C (p.Gly3153Ala) c.9338G>C (p.Gly3113Ala) c.9269G>C (p.Gly3090Ala) c.7673G>C (p.Gly2558Ala) n.9809G>C | |
6 | g.51748083C>T | CA3851378 | PKHD1 | c.9533G>A (p.Gly3178Asp) c.9404G>A (p.Gly3135Asp) c.9395G>A (p.Gly3132Asp) c.8891G>A (p.Gly2964Asp) c.8822G>A (p.Gly2941Asp) c.3608G>A (p.Gly1203Asp) c.9458G>A (p.Gly3153Asp) c.9338G>A (p.Gly3113Asp) c.9269G>A (p.Gly3090Asp) c.7673G>A (p.Gly2558Asp) n.9809G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748084dup | CA913110677 | PKHD1 | c.9533dup (p.Leu3179SerfsTer23) c.9404dup (p.Leu3136SerfsTer23) c.9395dup (p.Leu3133SerfsTer23) c.8891dup (p.Leu2965SerfsTer23) c.8822dup (p.Leu2942SerfsTer23) c.3608dup (p.Leu1204SerfsTer23) c.9458dup (p.Leu3154SerfsTer23) c.9338dup (p.Leu3114SerfsTer23) c.9269dup (p.Leu3091SerfsTer23) c.7673dup (p.Leu2559SerfsTer23) n.9809dup | |
6 | g.51748084C>A | CA364420855 | PKHD1 | c.9532G>T (p.Gly3178Cys) c.9403G>T (p.Gly3135Cys) c.9394G>T (p.Gly3132Cys) c.8890G>T (p.Gly2964Cys) c.8821G>T (p.Gly2941Cys) c.3607G>T (p.Gly1203Cys) c.9457G>T (p.Gly3153Cys) c.9337G>T (p.Gly3113Cys) c.9268G>T (p.Gly3090Cys) c.7672G>T (p.Gly2558Cys) n.9808G>T | ClinVar gnomAD v4 |
6 | g.51748084C= | CA1628502479 | PKHD1 | c.9532G= (p.Gly3178=) c.9403G= (p.Gly3135=) c.9394G= (p.Gly3132=) c.8890G= (p.Gly2964=) c.8821G= (p.Gly2941=) c.3607G= (p.Gly1203=) c.9457G= (p.Gly3153=) c.9337G= (p.Gly3113=) c.9268G= (p.Gly3090=) c.7672G= (p.Gly2558=) n.9808G= | |
6 | g.51748084C>G | CA364420856 | PKHD1 | c.9532G>C (p.Gly3178Arg) c.9403G>C (p.Gly3135Arg) c.9394G>C (p.Gly3132Arg) c.8890G>C (p.Gly2964Arg) c.8821G>C (p.Gly2941Arg) c.3607G>C (p.Gly1203Arg) c.9457G>C (p.Gly3153Arg) c.9337G>C (p.Gly3113Arg) c.9268G>C (p.Gly3090Arg) c.7672G>C (p.Gly2558Arg) n.9808G>C | |
6 | g.51748084C>T | CA364420857 | PKHD1 | c.9532G>A (p.Gly3178Ser) c.9403G>A (p.Gly3135Ser) c.9394G>A (p.Gly3132Ser) c.8890G>A (p.Gly2964Ser) c.8821G>A (p.Gly2941Ser) c.3607G>A (p.Gly1203Ser) c.9457G>A (p.Gly3153Ser) c.9337G>A (p.Gly3113Ser) c.9268G>A (p.Gly3090Ser) c.7672G>A (p.Gly2558Ser) n.9808G>A | gnomAD v4 |
6 | g.51748085A>C | CA364420858 | PKHD1 | c.9531T>G (p.Ile3177Met) c.9402T>G (p.Ile3134Met) c.9393T>G (p.Ile3131Met) c.8889T>G (p.Ile2963Met) c.8820T>G (p.Ile2940Met) c.3606T>G (p.Ile1202Met) c.9456T>G (p.Ile3152Met) c.9336T>G (p.Ile3112Met) c.9267T>G (p.Ile3089Met) c.7671T>G (p.Ile2557Met) n.9807T>G | |
6 | g.51748085A>G | CA450613433 | PKHD1 | c.9531T>C (p.Ile3177=) c.9402T>C (p.Ile3134=) c.9393T>C (p.Ile3131=) c.8889T>C (p.Ile2963=) c.8820T>C (p.Ile2940=) c.3606T>C (p.Ile1202=) c.9456T>C (p.Ile3152=) c.9336T>C (p.Ile3112=) c.9267T>C (p.Ile3089=) c.7671T>C (p.Ile2557=) n.9807T>C | |
6 | g.51748085A>T | CA450613434 | PKHD1 | c.9531T>A (p.Ile3177=) c.9402T>A (p.Ile3134=) c.9393T>A (p.Ile3131=) c.8889T>A (p.Ile2963=) c.8820T>A (p.Ile2940=) c.3606T>A (p.Ile1202=) c.9456T>A (p.Ile3152=) c.9336T>A (p.Ile3112=) c.9267T>A (p.Ile3089=) c.7671T>A (p.Ile2557=) n.9807T>A | |
6 | g.51748086dup | CA2679078631 | PKHD1 | c.9531dup (p.Gly3178TrpfsTer24) c.9402dup (p.Gly3135TrpfsTer24) c.9393dup (p.Gly3132TrpfsTer24) c.8889dup (p.Gly2964TrpfsTer24) c.8820dup (p.Gly2941TrpfsTer24) c.3606dup (p.Gly1203TrpfsTer24) c.9456dup (p.Gly3153TrpfsTer24) c.9336dup (p.Gly3113TrpfsTer24) c.9267dup (p.Gly3090TrpfsTer24) c.7671dup (p.Gly2558TrpfsTer24) n.9807dup | gnomAD v4 |
6 | g.51748085_51748086dup | CA658821795 | PKHD1 | c.9530_9531dup (p.Gly3178LeufsTer6) c.9401_9402dup (p.Gly3135LeufsTer6) c.9392_9393dup (p.Gly3132LeufsTer6) c.8888_8889dup (p.Gly2964LeufsTer6) c.8819_8820dup (p.Gly2941LeufsTer6) c.3605_3606dup (p.Gly1203LeufsTer6) c.9455_9456dup (p.Gly3153LeufsTer6) c.9335_9336dup (p.Gly3113LeufsTer6) c.9266_9267dup (p.Gly3090LeufsTer6) c.7670_7671dup (p.Gly2558LeufsTer6) n.9806_9807dup | ClinVar dbSNP |
6 | g.51748086A= | CA1628502490 | PKHD1 | c.9530T= (p.Ile3177=) c.9401T= (p.Ile3134=) c.9392T= (p.Ile3131=) c.8888T= (p.Ile2963=) c.8819T= (p.Ile2940=) c.3605T= (p.Ile1202=) c.9455T= (p.Ile3152=) c.9335T= (p.Ile3112=) c.9266T= (p.Ile3089=) c.7670T= (p.Ile2557=) n.9806T= | |
6 | g.51748086A>C | CA364420859 | PKHD1 | c.9530T>G (p.Ile3177Ser) c.9401T>G (p.Ile3134Ser) c.9392T>G (p.Ile3131Ser) c.8888T>G (p.Ile2963Ser) c.8819T>G (p.Ile2940Ser) c.3605T>G (p.Ile1202Ser) c.9455T>G (p.Ile3152Ser) c.9335T>G (p.Ile3112Ser) c.9266T>G (p.Ile3089Ser) c.7670T>G (p.Ile2557Ser) n.9806T>G | |
6 | g.51748086A>G | CA3851379 | PKHD1 | c.9530T>C (p.Ile3177Thr) c.9401T>C (p.Ile3134Thr) c.9392T>C (p.Ile3131Thr) c.8888T>C (p.Ile2963Thr) c.8819T>C (p.Ile2940Thr) c.3605T>C (p.Ile1202Thr) c.9455T>C (p.Ile3152Thr) c.9335T>C (p.Ile3112Thr) c.9266T>C (p.Ile3089Thr) c.7670T>C (p.Ile2557Thr) n.9806T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748086A>T | CA364420860 | PKHD1 | c.9530T>A (p.Ile3177Asn) c.9401T>A (p.Ile3134Asn) c.9392T>A (p.Ile3131Asn) c.8888T>A (p.Ile2963Asn) c.8819T>A (p.Ile2940Asn) c.3605T>A (p.Ile1202Asn) c.9455T>A (p.Ile3152Asn) c.9335T>A (p.Ile3112Asn) c.9266T>A (p.Ile3089Asn) c.7670T>A (p.Ile2557Asn) n.9806T>A | |
6 | g.51748087T>A | CA364420862 | PKHD1 | c.9529A>T (p.Ile3177Phe) c.9400A>T (p.Ile3134Phe) c.9391A>T (p.Ile3131Phe) c.8887A>T (p.Ile2963Phe) c.8818A>T (p.Ile2940Phe) c.3604A>T (p.Ile1202Phe) c.9454A>T (p.Ile3152Phe) c.9334A>T (p.Ile3112Phe) c.9265A>T (p.Ile3089Phe) c.7669A>T (p.Ile2557Phe) n.9805A>T | COSMIC |
6 | g.51748087T>C | CA3851380 | PKHD1 | c.9529A>G (p.Ile3177Val) c.9400A>G (p.Ile3134Val) c.9391A>G (p.Ile3131Val) c.8887A>G (p.Ile2963Val) c.8818A>G (p.Ile2940Val) c.3604A>G (p.Ile1202Val) c.9454A>G (p.Ile3152Val) c.9334A>G (p.Ile3112Val) c.9265A>G (p.Ile3089Val) c.7669A>G (p.Ile2557Val) n.9805A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.51748087T>G | CA364420861 | PKHD1 | c.9529A>C (p.Ile3177Leu) c.9400A>C (p.Ile3134Leu) c.9391A>C (p.Ile3131Leu) c.8887A>C (p.Ile2963Leu) c.8818A>C (p.Ile2940Leu) c.3604A>C (p.Ile1202Leu) c.9454A>C (p.Ile3152Leu) c.9334A>C (p.Ile3112Leu) c.9265A>C (p.Ile3089Leu) c.7669A>C (p.Ile2557Leu) n.9805A>C | |
6 | g.51748087T= | CA1628502498 | PKHD1 | c.9529A= (p.Ile3177=) c.9400A= (p.Ile3134=) c.9391A= (p.Ile3131=) c.8887A= (p.Ile2963=) c.8818A= (p.Ile2940=) c.3604A= (p.Ile1202=) c.9454A= (p.Ile3152=) c.9334A= (p.Ile3112=) c.9265A= (p.Ile3089=) c.7669A= (p.Ile2557=) n.9805A= | |
6 | g.51748088A>C | CA450613436 | PKHD1 | c.9528T>G (p.Thr3176=) c.9399T>G (p.Thr3133=) c.9390T>G (p.Thr3130=) c.8886T>G (p.Thr2962=) c.8817T>G (p.Thr2939=) c.3603T>G (p.Thr1201=) c.9453T>G (p.Thr3151=) c.9333T>G (p.Thr3111=) c.9264T>G (p.Thr3088=) c.7668T>G (p.Thr2556=) n.9804T>G | |
6 | g.51748088A>G | CA450613437 | PKHD1 | c.9528T>C (p.Thr3176=) c.9399T>C (p.Thr3133=) c.9390T>C (p.Thr3130=) c.8886T>C (p.Thr2962=) c.8817T>C (p.Thr2939=) c.3603T>C (p.Thr1201=) c.9453T>C (p.Thr3151=) c.9333T>C (p.Thr3111=) c.9264T>C (p.Thr3088=) c.7668T>C (p.Thr2556=) n.9804T>C | gnomAD v4 |
6 | g.51748088A>T | CA450613438 | PKHD1 | c.9528T>A (p.Thr3176=) c.9399T>A (p.Thr3133=) c.9390T>A (p.Thr3130=) c.8886T>A (p.Thr2962=) c.8817T>A (p.Thr2939=) c.3603T>A (p.Thr1201=) c.9453T>A (p.Thr3151=) c.9333T>A (p.Thr3111=) c.9264T>A (p.Thr3088=) c.7668T>A (p.Thr2556=) n.9804T>A | |
6 | g.51748089G>A | CA364420863 | PKHD1 | c.9527C>T (p.Thr3176Ile) c.9398C>T (p.Thr3133Ile) c.9389C>T (p.Thr3130Ile) c.8885C>T (p.Thr2962Ile) c.8816C>T (p.Thr2939Ile) c.3602C>T (p.Thr1201Ile) c.9452C>T (p.Thr3151Ile) c.9332C>T (p.Thr3111Ile) c.9263C>T (p.Thr3088Ile) c.7667C>T (p.Thr2556Ile) n.9803C>T | |
6 | g.51748089G>C | CA364420865 | PKHD1 | c.9527C>G (p.Thr3176Ser) c.9398C>G (p.Thr3133Ser) c.9389C>G (p.Thr3130Ser) c.8885C>G (p.Thr2962Ser) c.8816C>G (p.Thr2939Ser) c.3602C>G (p.Thr1201Ser) c.9452C>G (p.Thr3151Ser) c.9332C>G (p.Thr3111Ser) c.9263C>G (p.Thr3088Ser) c.7667C>G (p.Thr2556Ser) n.9803C>G | |
6 | g.51748089G>T | CA364420864 | PKHD1 | c.9527C>A (p.Thr3176Asn) c.9398C>A (p.Thr3133Asn) c.9389C>A (p.Thr3130Asn) c.8885C>A (p.Thr2962Asn) c.8816C>A (p.Thr2939Asn) c.3602C>A (p.Thr1201Asn) c.9452C>A (p.Thr3151Asn) c.9332C>A (p.Thr3111Asn) c.9263C>A (p.Thr3088Asn) c.7667C>A (p.Thr2556Asn) n.9803C>A | |
6 | g.51748090T>A | CA364420866 | PKHD1 | c.9526A>T (p.Thr3176Ser) c.9397A>T (p.Thr3133Ser) c.9388A>T (p.Thr3130Ser) c.8884A>T (p.Thr2962Ser) c.8815A>T (p.Thr2939Ser) c.3601A>T (p.Thr1201Ser) c.9451A>T (p.Thr3151Ser) c.9331A>T (p.Thr3111Ser) c.9262A>T (p.Thr3088Ser) c.7666A>T (p.Thr2556Ser) n.9802A>T | |
6 | g.51748090T>C | CA138896145 | PKHD1 | c.9526A>G (p.Thr3176Ala) c.9397A>G (p.Thr3133Ala) c.9388A>G (p.Thr3130Ala) c.8884A>G (p.Thr2962Ala) c.8815A>G (p.Thr2939Ala) c.3601A>G (p.Thr1201Ala) c.9451A>G (p.Thr3151Ala) c.9331A>G (p.Thr3111Ala) c.9262A>G (p.Thr3088Ala) c.7666A>G (p.Thr2556Ala) n.9802A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748090T>G | CA364420867 | PKHD1 | c.9526A>C (p.Thr3176Pro) c.9397A>C (p.Thr3133Pro) c.9388A>C (p.Thr3130Pro) c.8884A>C (p.Thr2962Pro) c.8815A>C (p.Thr2939Pro) c.3601A>C (p.Thr1201Pro) c.9451A>C (p.Thr3151Pro) c.9331A>C (p.Thr3111Pro) c.9262A>C (p.Thr3088Pro) c.7666A>C (p.Thr2556Pro) n.9802A>C | |
6 | g.51748090T= | CA1628502503 | PKHD1 | c.9526A= (p.Thr3176=) c.9397A= (p.Thr3133=) c.9388A= (p.Thr3130=) c.8884A= (p.Thr2962=) c.8815A= (p.Thr2939=) c.3601A= (p.Thr1201=) c.9451A= (p.Thr3151=) c.9331A= (p.Thr3111=) c.9262A= (p.Thr3088=) c.7666A= (p.Thr2556=) n.9802A= | |
6 | g.51748091A>C | CA364420868 | PKHD1 | c.9525T>G (p.Asn3175Lys) c.9396T>G (p.Asn3132Lys) c.9387T>G (p.Asn3129Lys) c.8883T>G (p.Asn2961Lys) c.8814T>G (p.Asn2938Lys) c.3600T>G (p.Asn1200Lys) c.9450T>G (p.Asn3150Lys) c.9330T>G (p.Asn3110Lys) c.9261T>G (p.Asn3087Lys) c.7665T>G (p.Asn2555Lys) n.9801T>G | |
6 | g.51748091A>G | CA450613440 | PKHD1 | c.9525T>C (p.Asn3175=) c.9396T>C (p.Asn3132=) c.9387T>C (p.Asn3129=) c.8883T>C (p.Asn2961=) c.8814T>C (p.Asn2938=) c.3600T>C (p.Asn1200=) c.9450T>C (p.Asn3150=) c.9330T>C (p.Asn3110=) c.9261T>C (p.Asn3087=) c.7665T>C (p.Asn2555=) n.9801T>C | gnomAD v4 |
6 | g.51748091A>T | CA364420869 | PKHD1 | c.9525T>A (p.Asn3175Lys) c.9396T>A (p.Asn3132Lys) c.9387T>A (p.Asn3129Lys) c.8883T>A (p.Asn2961Lys) c.8814T>A (p.Asn2938Lys) c.3600T>A (p.Asn1200Lys) c.9450T>A (p.Asn3150Lys) c.9330T>A (p.Asn3110Lys) c.9261T>A (p.Asn3087Lys) c.7665T>A (p.Asn2555Lys) n.9801T>A | dbSNP |
6 | g.51748092T>A | CA364420870 | PKHD1 | c.9524A>T (p.Asn3175Ile) c.9395A>T (p.Asn3132Ile) c.9386A>T (p.Asn3129Ile) c.8882A>T (p.Asn2961Ile) c.8813A>T (p.Asn2938Ile) c.3599A>T (p.Asn1200Ile) c.9449A>T (p.Asn3150Ile) c.9329A>T (p.Asn3110Ile) c.9260A>T (p.Asn3087Ile) c.7664A>T (p.Asn2555Ile) n.9800A>T | |
6 | g.51748092T>C | CA364420872 | PKHD1 | c.9524A>G (p.Asn3175Ser) c.9395A>G (p.Asn3132Ser) c.9386A>G (p.Asn3129Ser) c.8882A>G (p.Asn2961Ser) c.8813A>G (p.Asn2938Ser) c.3599A>G (p.Asn1200Ser) c.9449A>G (p.Asn3150Ser) c.9329A>G (p.Asn3110Ser) c.9260A>G (p.Asn3087Ser) c.7664A>G (p.Asn2555Ser) n.9800A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748092T>G | CA364420871 | PKHD1 | c.9524A>C (p.Asn3175Thr) c.9395A>C (p.Asn3132Thr) c.9386A>C (p.Asn3129Thr) c.8882A>C (p.Asn2961Thr) c.8813A>C (p.Asn2938Thr) c.3599A>C (p.Asn1200Thr) c.9449A>C (p.Asn3150Thr) c.9329A>C (p.Asn3110Thr) c.9260A>C (p.Asn3087Thr) c.7664A>C (p.Asn2555Thr) n.9800A>C | |
6 | g.51748092T= | CA1628502513 | PKHD1 | c.9524A= (p.Asn3175=) c.9395A= (p.Asn3132=) c.9386A= (p.Asn3129=) c.8882A= (p.Asn2961=) c.8813A= (p.Asn2938=) c.3599A= (p.Asn1200=) c.9449A= (p.Asn3150=) c.9329A= (p.Asn3110=) c.9260A= (p.Asn3087=) c.7664A= (p.Asn2555=) n.9800A= | |
6 | g.51748092_51748093delinsC | CA2695206427 | PKHD1 | c.9523_9524delinsG (p.Asn3175ValfsTer8) c.9394_9395delinsG (p.Asn3132ValfsTer8) c.9385_9386delinsG (p.Asn3129ValfsTer8) c.8881_8882delinsG (p.Asn2961ValfsTer8) c.8812_8813delinsG (p.Asn2938ValfsTer8) c.3598_3599delinsG (p.Asn1200ValfsTer8) c.9448_9449delinsG (p.Asn3150ValfsTer8) c.9328_9329delinsG (p.Asn3110ValfsTer8) c.9259_9260delinsG (p.Asn3087ValfsTer8) c.7663_7664delinsG (p.Asn2555ValfsTer8) n.9799_9800delinsG | |
6 | g.51748093T>A | CA364420873 | PKHD1 | c.9523A>T (p.Asn3175Tyr) c.9394A>T (p.Asn3132Tyr) c.9385A>T (p.Asn3129Tyr) c.8881A>T (p.Asn2961Tyr) c.8812A>T (p.Asn2938Tyr) c.3598A>T (p.Asn1200Tyr) c.9448A>T (p.Asn3150Tyr) c.9328A>T (p.Asn3110Tyr) c.9259A>T (p.Asn3087Tyr) c.7663A>T (p.Asn2555Tyr) n.9799A>T | |
6 | g.51748093T>C | CA364420874 | PKHD1 | c.9523A>G (p.Asn3175Asp) c.9394A>G (p.Asn3132Asp) c.9385A>G (p.Asn3129Asp) c.8881A>G (p.Asn2961Asp) c.8812A>G (p.Asn2938Asp) c.3598A>G (p.Asn1200Asp) c.9448A>G (p.Asn3150Asp) c.9328A>G (p.Asn3110Asp) c.9259A>G (p.Asn3087Asp) c.7663A>G (p.Asn2555Asp) n.9799A>G | |
6 | g.51748093T>G | CA364420875 | PKHD1 | c.9523A>C (p.Asn3175His) c.9394A>C (p.Asn3132His) c.9385A>C (p.Asn3129His) c.8881A>C (p.Asn2961His) c.8812A>C (p.Asn2938His) c.3598A>C (p.Asn1200His) c.9448A>C (p.Asn3150His) c.9328A>C (p.Asn3110His) c.9259A>C (p.Asn3087His) c.7663A>C (p.Asn2555His) n.9799A>C | |
6 | g.51748094G>A | CA450613441 | PKHD1 | c.9522C>T (p.Asp3174=) c.9393C>T (p.Asp3131=) c.9384C>T (p.Asp3128=) c.8880C>T (p.Asp2960=) c.8811C>T (p.Asp2937=) c.3597C>T (p.Asp1199=) c.9447C>T (p.Asp3149=) c.9327C>T (p.Asp3109=) c.9258C>T (p.Asp3086=) c.7662C>T (p.Asp2554=) n.9798C>T | ClinVar dbSNP |
6 | g.51748094G>C | CA364420876 | PKHD1 | c.9522C>G (p.Asp3174Glu) c.9393C>G (p.Asp3131Glu) c.9384C>G (p.Asp3128Glu) c.8880C>G (p.Asp2960Glu) c.8811C>G (p.Asp2937Glu) c.3597C>G (p.Asp1199Glu) c.9447C>G (p.Asp3149Glu) c.9327C>G (p.Asp3109Glu) c.9258C>G (p.Asp3086Glu) c.7662C>G (p.Asp2554Glu) n.9798C>G | gnomAD v4 |
6 | g.51748094G= | CA1628502518 | PKHD1 | c.9522C= (p.Asp3174=) c.9393C= (p.Asp3131=) c.9384C= (p.Asp3128=) c.8880C= (p.Asp2960=) c.8811C= (p.Asp2937=) c.3597C= (p.Asp1199=) c.9447C= (p.Asp3149=) c.9327C= (p.Asp3109=) c.9258C= (p.Asp3086=) c.7662C= (p.Asp2554=) n.9798C= | |
6 | g.51748094G>T | CA364420877 | PKHD1 | c.9522C>A (p.Asp3174Glu) c.9393C>A (p.Asp3131Glu) c.9384C>A (p.Asp3128Glu) c.8880C>A (p.Asp2960Glu) c.8811C>A (p.Asp2937Glu) c.3597C>A (p.Asp1199Glu) c.9447C>A (p.Asp3149Glu) c.9327C>A (p.Asp3109Glu) c.9258C>A (p.Asp3086Glu) c.7662C>A (p.Asp2554Glu) n.9798C>A | |
6 | g.51748095T>A | CA364420878 | PKHD1 | c.9521A>T (p.Asp3174Val) c.9392A>T (p.Asp3131Val) c.9383A>T (p.Asp3128Val) c.8879A>T (p.Asp2960Val) c.8810A>T (p.Asp2937Val) c.3596A>T (p.Asp1199Val) c.9446A>T (p.Asp3149Val) c.9326A>T (p.Asp3109Val) c.9257A>T (p.Asp3086Val) c.7661A>T (p.Asp2554Val) n.9797A>T | dbSNP |
6 | g.51748095T>C | CA364420879 | PKHD1 | c.9521A>G (p.Asp3174Gly) c.9392A>G (p.Asp3131Gly) c.9383A>G (p.Asp3128Gly) c.8879A>G (p.Asp2960Gly) c.8810A>G (p.Asp2937Gly) c.3596A>G (p.Asp1199Gly) c.9446A>G (p.Asp3149Gly) c.9326A>G (p.Asp3109Gly) c.9257A>G (p.Asp3086Gly) c.7661A>G (p.Asp2554Gly) n.9797A>G | |
6 | g.51748095T>G | CA364420880 | PKHD1 | c.9521A>C (p.Asp3174Ala) c.9392A>C (p.Asp3131Ala) c.9383A>C (p.Asp3128Ala) c.8879A>C (p.Asp2960Ala) c.8810A>C (p.Asp2937Ala) c.3596A>C (p.Asp1199Ala) c.9446A>C (p.Asp3149Ala) c.9326A>C (p.Asp3109Ala) c.9257A>C (p.Asp3086Ala) c.7661A>C (p.Asp2554Ala) n.9797A>C | |
6 | g.51748095T= | CA1628502522 | PKHD1 | c.9521A= (p.Asp3174=) c.9392A= (p.Asp3131=) c.9383A= (p.Asp3128=) c.8879A= (p.Asp2960=) c.8810A= (p.Asp2937=) c.3596A= (p.Asp1199=) c.9446A= (p.Asp3149=) c.9326A= (p.Asp3109=) c.9257A= (p.Asp3086=) c.7661A= (p.Asp2554=) n.9797A= | |
6 | g.51748096C>A | CA364420881 | PKHD1 | c.9520G>T (p.Asp3174Tyr) c.9391G>T (p.Asp3131Tyr) c.9382G>T (p.Asp3128Tyr) c.8878G>T (p.Asp2960Tyr) c.8809G>T (p.Asp2937Tyr) c.3595G>T (p.Asp1199Tyr) c.9445G>T (p.Asp3149Tyr) c.9325G>T (p.Asp3109Tyr) c.9256G>T (p.Asp3086Tyr) c.7660G>T (p.Asp2554Tyr) n.9796G>T | |
6 | g.51748096C>G | CA364420882 | PKHD1 | c.9520G>C (p.Asp3174His) c.9391G>C (p.Asp3131His) c.9382G>C (p.Asp3128His) c.8878G>C (p.Asp2960His) c.8809G>C (p.Asp2937His) c.3595G>C (p.Asp1199His) c.9445G>C (p.Asp3149His) c.9325G>C (p.Asp3109His) c.9256G>C (p.Asp3086His) c.7660G>C (p.Asp2554His) n.9796G>C | |
6 | g.51748096C>T | CA364420883 | PKHD1 | c.9520G>A (p.Asp3174Asn) c.9391G>A (p.Asp3131Asn) c.9382G>A (p.Asp3128Asn) c.8878G>A (p.Asp2960Asn) c.8809G>A (p.Asp2937Asn) c.3595G>A (p.Asp1199Asn) c.9445G>A (p.Asp3149Asn) c.9325G>A (p.Asp3109Asn) c.9256G>A (p.Asp3086Asn) c.7660G>A (p.Asp2554Asn) n.9796G>A | |
6 | g.51748097T>A | CA450613444 | PKHD1 | c.9519A>T (p.Val3173=) c.9390A>T (p.Val3130=) c.9381A>T (p.Val3127=) c.8877A>T (p.Val2959=) c.8808A>T (p.Val2936=) c.3594A>T (p.Val1198=) c.9444A>T (p.Val3148=) c.9324A>T (p.Val3108=) c.9255A>T (p.Val3085=) c.7659A>T (p.Val2553=) n.9795A>T | |
6 | g.51748097T>C | CA450613445 | PKHD1 | c.9519A>G (p.Val3173=) c.9390A>G (p.Val3130=) c.9381A>G (p.Val3127=) c.8877A>G (p.Val2959=) c.8808A>G (p.Val2936=) c.3594A>G (p.Val1198=) c.9444A>G (p.Val3148=) c.9324A>G (p.Val3108=) c.9255A>G (p.Val3085=) c.7659A>G (p.Val2553=) n.9795A>G | |
6 | g.51748097T>G | CA450613446 | PKHD1 | c.9519A>C (p.Val3173=) c.9390A>C (p.Val3130=) c.9381A>C (p.Val3127=) c.8877A>C (p.Val2959=) c.8808A>C (p.Val2936=) c.3594A>C (p.Val1198=) c.9444A>C (p.Val3148=) c.9324A>C (p.Val3108=) c.9255A>C (p.Val3085=) c.7659A>C (p.Val2553=) n.9795A>C | |
6 | g.51748098A>C | CA364420884 | PKHD1 | c.9518T>G (p.Val3173Gly) c.9389T>G (p.Val3130Gly) c.9380T>G (p.Val3127Gly) c.8876T>G (p.Val2959Gly) c.8807T>G (p.Val2936Gly) c.3593T>G (p.Val1198Gly) c.9443T>G (p.Val3148Gly) c.9323T>G (p.Val3108Gly) c.9254T>G (p.Val3085Gly) c.7658T>G (p.Val2553Gly) n.9794T>G | |
6 | g.51748098A>G | CA364420886 | PKHD1 | c.9518T>C (p.Val3173Ala) c.9389T>C (p.Val3130Ala) c.9380T>C (p.Val3127Ala) c.8876T>C (p.Val2959Ala) c.8807T>C (p.Val2936Ala) c.3593T>C (p.Val1198Ala) c.9443T>C (p.Val3148Ala) c.9323T>C (p.Val3108Ala) c.9254T>C (p.Val3085Ala) c.7658T>C (p.Val2553Ala) n.9794T>C | |
6 | g.51748098A>T | CA364420885 | PKHD1 | c.9518T>A (p.Val3173Glu) c.9389T>A (p.Val3130Glu) c.9380T>A (p.Val3127Glu) c.8876T>A (p.Val2959Glu) c.8807T>A (p.Val2936Glu) c.3593T>A (p.Val1198Glu) c.9443T>A (p.Val3148Glu) c.9323T>A (p.Val3108Glu) c.9254T>A (p.Val3085Glu) c.7658T>A (p.Val2553Glu) n.9794T>A | |
6 | g.51748099C>A | CA364420887 | PKHD1 | c.9517G>T (p.Val3173Leu) c.9388G>T (p.Val3130Leu) c.9379G>T (p.Val3127Leu) c.8875G>T (p.Val2959Leu) c.8806G>T (p.Val2936Leu) c.3592G>T (p.Val1198Leu) c.9442G>T (p.Val3148Leu) c.9322G>T (p.Val3108Leu) c.9253G>T (p.Val3085Leu) c.7657G>T (p.Val2553Leu) n.9793G>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748099C= | CA1628502528 | PKHD1 | c.9517G= (p.Val3173=) c.9388G= (p.Val3130=) c.9379G= (p.Val3127=) c.8875G= (p.Val2959=) c.8806G= (p.Val2936=) c.3592G= (p.Val1198=) c.9442G= (p.Val3148=) c.9322G= (p.Val3108=) c.9253G= (p.Val3085=) c.7657G= (p.Val2553=) n.9793G= | |
6 | g.51748099C>G | CA364420888 | PKHD1 | c.9517G>C (p.Val3173Leu) c.9388G>C (p.Val3130Leu) c.9379G>C (p.Val3127Leu) c.8875G>C (p.Val2959Leu) c.8806G>C (p.Val2936Leu) c.3592G>C (p.Val1198Leu) c.9442G>C (p.Val3148Leu) c.9322G>C (p.Val3108Leu) c.9253G>C (p.Val3085Leu) c.7657G>C (p.Val2553Leu) n.9793G>C | |
6 | g.51748099C>T | CA364420889 | PKHD1 | c.9517G>A (p.Val3173Ile) c.9388G>A (p.Val3130Ile) c.9379G>A (p.Val3127Ile) c.8875G>A (p.Val2959Ile) c.8806G>A (p.Val2936Ile) c.3592G>A (p.Val1198Ile) c.9442G>A (p.Val3148Ile) c.9322G>A (p.Val3108Ile) c.9253G>A (p.Val3085Ile) c.7657G>A (p.Val2553Ile) n.9793G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748100C>A | CA450613448 | PKHD1 | c.9516G>T (p.Leu3172=) c.9387G>T (p.Leu3129=) c.9378G>T (p.Leu3126=) c.8874G>T (p.Leu2958=) c.8805G>T (p.Leu2935=) c.3591G>T (p.Leu1197=) c.9441G>T (p.Leu3147=) c.9321G>T (p.Leu3107=) c.9252G>T (p.Leu3084=) c.7656G>T (p.Leu2552=) n.9792G>T | |
6 | g.51748100C= | CA1628502533 | PKHD1 | c.9516G= (p.Leu3172=) c.9387G= (p.Leu3129=) c.9378G= (p.Leu3126=) c.8874G= (p.Leu2958=) c.8805G= (p.Leu2935=) c.3591G= (p.Leu1197=) c.9441G= (p.Leu3147=) c.9321G= (p.Leu3107=) c.9252G= (p.Leu3084=) c.7656G= (p.Leu2552=) n.9792G= | |
6 | g.51748100C>G | CA450613449 | PKHD1 | c.9516G>C (p.Leu3172=) c.9387G>C (p.Leu3129=) c.9378G>C (p.Leu3126=) c.8874G>C (p.Leu2958=) c.8805G>C (p.Leu2935=) c.3591G>C (p.Leu1197=) c.9441G>C (p.Leu3147=) c.9321G>C (p.Leu3107=) c.9252G>C (p.Leu3084=) c.7656G>C (p.Leu2552=) n.9792G>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748100C>T | CA450613450 | PKHD1 | c.9516G>A (p.Leu3172=) c.9387G>A (p.Leu3129=) c.9378G>A (p.Leu3126=) c.8874G>A (p.Leu2958=) c.8805G>A (p.Leu2935=) c.3591G>A (p.Leu1197=) c.9441G>A (p.Leu3147=) c.9321G>A (p.Leu3107=) c.9252G>A (p.Leu3084=) c.7656G>A (p.Leu2552=) n.9792G>A | gnomAD v4 |
6 | g.51748101A>C | CA364420890 | PKHD1 | c.9515T>G (p.Leu3172Arg) c.9386T>G (p.Leu3129Arg) c.9377T>G (p.Leu3126Arg) c.8873T>G (p.Leu2958Arg) c.8804T>G (p.Leu2935Arg) c.3590T>G (p.Leu1197Arg) c.9440T>G (p.Leu3147Arg) c.9320T>G (p.Leu3107Arg) c.9251T>G (p.Leu3084Arg) c.7655T>G (p.Leu2552Arg) n.9791T>G | |
6 | g.51748101A>G | CA364420891 | PKHD1 | c.9515T>C (p.Leu3172Pro) c.9386T>C (p.Leu3129Pro) c.9377T>C (p.Leu3126Pro) c.8873T>C (p.Leu2958Pro) c.8804T>C (p.Leu2935Pro) c.3590T>C (p.Leu1197Pro) c.9440T>C (p.Leu3147Pro) c.9320T>C (p.Leu3107Pro) c.9251T>C (p.Leu3084Pro) c.7655T>C (p.Leu2552Pro) n.9791T>C | |
6 | g.51748101A>T | CA364420892 | PKHD1 | c.9515T>A (p.Leu3172Gln) c.9386T>A (p.Leu3129Gln) c.9377T>A (p.Leu3126Gln) c.8873T>A (p.Leu2958Gln) c.8804T>A (p.Leu2935Gln) c.3590T>A (p.Leu1197Gln) c.9440T>A (p.Leu3147Gln) c.9320T>A (p.Leu3107Gln) c.9251T>A (p.Leu3084Gln) c.7655T>A (p.Leu2552Gln) n.9791T>A | |
6 | g.51748102del | CA2679078632 | PKHD1 | c.9514del (p.Leu3172TrpfsTer2) c.9385del (p.Leu3129TrpfsTer2) c.9376del (p.Leu3126TrpfsTer2) c.8872del (p.Leu2958TrpfsTer2) c.8803del (p.Leu2935TrpfsTer2) c.3589del (p.Leu1197TrpfsTer2) c.9439del (p.Leu3147TrpfsTer2) c.9319del (p.Leu3107TrpfsTer2) c.9250del (p.Leu3084TrpfsTer2) c.7654del (p.Leu2552TrpfsTer2) n.9790del | gnomAD v4 |
6 | g.51748102G>A | CA450613451 | PKHD1 | c.9514C>T (p.Leu3172=) c.9385C>T (p.Leu3129=) c.9376C>T (p.Leu3126=) c.8872C>T (p.Leu2958=) c.8803C>T (p.Leu2935=) c.3589C>T (p.Leu1197=) c.9439C>T (p.Leu3147=) c.9319C>T (p.Leu3107=) c.9250C>T (p.Leu3084=) c.7654C>T (p.Leu2552=) n.9790C>T | |
6 | g.51748102G>C | CA364420893 | PKHD1 | c.9514C>G (p.Leu3172Val) c.9385C>G (p.Leu3129Val) c.9376C>G (p.Leu3126Val) c.8872C>G (p.Leu2958Val) c.8803C>G (p.Leu2935Val) c.3589C>G (p.Leu1197Val) c.9439C>G (p.Leu3147Val) c.9319C>G (p.Leu3107Val) c.9250C>G (p.Leu3084Val) c.7654C>G (p.Leu2552Val) n.9790C>G | |
6 | g.51748102G>T | CA364420894 | PKHD1 | c.9514C>A (p.Leu3172Met) c.9385C>A (p.Leu3129Met) c.9376C>A (p.Leu3126Met) c.8872C>A (p.Leu2958Met) c.8803C>A (p.Leu2935Met) c.3589C>A (p.Leu1197Met) c.9439C>A (p.Leu3147Met) c.9319C>A (p.Leu3107Met) c.9250C>A (p.Leu3084Met) c.7654C>A (p.Leu2552Met) n.9790C>A | |
6 | g.51748103A>C | CA450613453 | PKHD1 | c.9513T>G (p.Thr3171=) c.9384T>G (p.Thr3128=) c.9375T>G (p.Thr3125=) c.8871T>G (p.Thr2957=) c.8802T>G (p.Thr2934=) c.3588T>G (p.Thr1196=) c.9438T>G (p.Thr3146=) c.9318T>G (p.Thr3106=) c.9249T>G (p.Thr3083=) c.7653T>G (p.Thr2551=) n.9789T>G | |
6 | g.51748103A>G | CA450613455 | PKHD1 | c.9513T>C (p.Thr3171=) c.9384T>C (p.Thr3128=) c.9375T>C (p.Thr3125=) c.8871T>C (p.Thr2957=) c.8802T>C (p.Thr2934=) c.3588T>C (p.Thr1196=) c.9438T>C (p.Thr3146=) c.9318T>C (p.Thr3106=) c.9249T>C (p.Thr3083=) c.7653T>C (p.Thr2551=) n.9789T>C | ClinVar gnomAD v4 |
6 | g.51748103A>T | CA450613454 | PKHD1 | c.9513T>A (p.Thr3171=) c.9384T>A (p.Thr3128=) c.9375T>A (p.Thr3125=) c.8871T>A (p.Thr2957=) c.8802T>A (p.Thr2934=) c.3588T>A (p.Thr1196=) c.9438T>A (p.Thr3146=) c.9318T>A (p.Thr3106=) c.9249T>A (p.Thr3083=) c.7653T>A (p.Thr2551=) n.9789T>A | |
6 | g.51748104G>A | CA364420896 | PKHD1 | c.9512C>T (p.Thr3171Ile) c.9383C>T (p.Thr3128Ile) c.9374C>T (p.Thr3125Ile) c.8870C>T (p.Thr2957Ile) c.8801C>T (p.Thr2934Ile) c.3587C>T (p.Thr1196Ile) c.9437C>T (p.Thr3146Ile) c.9317C>T (p.Thr3106Ile) c.9248C>T (p.Thr3083Ile) c.7652C>T (p.Thr2551Ile) n.9788C>T | gnomAD v4 |
6 | g.51748104G>C | CA364420897 | PKHD1 | c.9512C>G (p.Thr3171Ser) c.9383C>G (p.Thr3128Ser) c.9374C>G (p.Thr3125Ser) c.8870C>G (p.Thr2957Ser) c.8801C>G (p.Thr2934Ser) c.3587C>G (p.Thr1196Ser) c.9437C>G (p.Thr3146Ser) c.9317C>G (p.Thr3106Ser) c.9248C>G (p.Thr3083Ser) c.7652C>G (p.Thr2551Ser) n.9788C>G | |
6 | g.51748104G>T | CA364420895 | PKHD1 | c.9512C>A (p.Thr3171Asn) c.9383C>A (p.Thr3128Asn) c.9374C>A (p.Thr3125Asn) c.8870C>A (p.Thr2957Asn) c.8801C>A (p.Thr2934Asn) c.3587C>A (p.Thr1196Asn) c.9437C>A (p.Thr3146Asn) c.9317C>A (p.Thr3106Asn) c.9248C>A (p.Thr3083Asn) c.7652C>A (p.Thr2551Asn) n.9788C>A | |
6 | g.51748105T>A | CA364420898 | PKHD1 | c.9511A>T (p.Thr3171Ser) c.9382A>T (p.Thr3128Ser) c.9373A>T (p.Thr3125Ser) c.8869A>T (p.Thr2957Ser) c.8800A>T (p.Thr2934Ser) c.3586A>T (p.Thr1196Ser) c.9436A>T (p.Thr3146Ser) c.9316A>T (p.Thr3106Ser) c.9247A>T (p.Thr3083Ser) c.7651A>T (p.Thr2551Ser) n.9787A>T | |
6 | g.51748105T>C | CA364420899 | PKHD1 | c.9511A>G (p.Thr3171Ala) c.9382A>G (p.Thr3128Ala) c.9373A>G (p.Thr3125Ala) c.8869A>G (p.Thr2957Ala) c.8800A>G (p.Thr2934Ala) c.3586A>G (p.Thr1196Ala) c.9436A>G (p.Thr3146Ala) c.9316A>G (p.Thr3106Ala) c.9247A>G (p.Thr3083Ala) c.7651A>G (p.Thr2551Ala) n.9787A>G | |
6 | g.51748105T>G | CA364420900 | PKHD1 | c.9511A>C (p.Thr3171Pro) c.9382A>C (p.Thr3128Pro) c.9373A>C (p.Thr3125Pro) c.8869A>C (p.Thr2957Pro) c.8800A>C (p.Thr2934Pro) c.3586A>C (p.Thr1196Pro) c.9436A>C (p.Thr3146Pro) c.9316A>C (p.Thr3106Pro) c.9247A>C (p.Thr3083Pro) c.7651A>C (p.Thr2551Pro) n.9787A>C | |
6 | g.51748106A>C | CA364420901 | PKHD1 | c.9510T>G (p.Ile3170Met) c.9381T>G (p.Ile3127Met) c.9372T>G (p.Ile3124Met) c.8868T>G (p.Ile2956Met) c.8799T>G (p.Ile2933Met) c.3585T>G (p.Ile1195Met) c.9435T>G (p.Ile3145Met) c.9315T>G (p.Ile3105Met) c.9246T>G (p.Ile3082Met) c.7650T>G (p.Ile2550Met) n.9786T>G | |
6 | g.51748106A>G | CA450613459 | PKHD1 | c.9510T>C (p.Ile3170=) c.9381T>C (p.Ile3127=) c.9372T>C (p.Ile3124=) c.8868T>C (p.Ile2956=) c.8799T>C (p.Ile2933=) c.3585T>C (p.Ile1195=) c.9435T>C (p.Ile3145=) c.9315T>C (p.Ile3105=) c.9246T>C (p.Ile3082=) c.7650T>C (p.Ile2550=) n.9786T>C | |
6 | g.51748106A>T | CA450613460 | PKHD1 | c.9510T>A (p.Ile3170=) c.9381T>A (p.Ile3127=) c.9372T>A (p.Ile3124=) c.8868T>A (p.Ile2956=) c.8799T>A (p.Ile2933=) c.3585T>A (p.Ile1195=) c.9435T>A (p.Ile3145=) c.9315T>A (p.Ile3105=) c.9246T>A (p.Ile3082=) c.7650T>A (p.Ile2550=) n.9786T>A | |
6 | g.51748107A>C | CA364420902 | PKHD1 | c.9509T>G (p.Ile3170Ser) c.9380T>G (p.Ile3127Ser) c.9371T>G (p.Ile3124Ser) c.8867T>G (p.Ile2956Ser) c.8798T>G (p.Ile2933Ser) c.3584T>G (p.Ile1195Ser) c.9434T>G (p.Ile3145Ser) c.9314T>G (p.Ile3105Ser) c.9245T>G (p.Ile3082Ser) c.7649T>G (p.Ile2550Ser) n.9785T>G | |
6 | g.51748107A>G | CA364420903 | PKHD1 | c.9509T>C (p.Ile3170Thr) c.9380T>C (p.Ile3127Thr) c.9371T>C (p.Ile3124Thr) c.8867T>C (p.Ile2956Thr) c.8798T>C (p.Ile2933Thr) c.3584T>C (p.Ile1195Thr) c.9434T>C (p.Ile3145Thr) c.9314T>C (p.Ile3105Thr) c.9245T>C (p.Ile3082Thr) c.7649T>C (p.Ile2550Thr) n.9785T>C | |
6 | g.51748107A>T | CA364420904 | PKHD1 | c.9509T>A (p.Ile3170Asn) c.9380T>A (p.Ile3127Asn) c.9371T>A (p.Ile3124Asn) c.8867T>A (p.Ile2956Asn) c.8798T>A (p.Ile2933Asn) c.3584T>A (p.Ile1195Asn) c.9434T>A (p.Ile3145Asn) c.9314T>A (p.Ile3105Asn) c.9245T>A (p.Ile3082Asn) c.7649T>A (p.Ile2550Asn) n.9785T>A | |
6 | g.51748108T>A | CA364420905 | PKHD1 | c.9508A>T (p.Ile3170Phe) c.9379A>T (p.Ile3127Phe) c.9370A>T (p.Ile3124Phe) c.8866A>T (p.Ile2956Phe) c.8797A>T (p.Ile2933Phe) c.3583A>T (p.Ile1195Phe) c.9433A>T (p.Ile3145Phe) c.9313A>T (p.Ile3105Phe) c.9244A>T (p.Ile3082Phe) c.7648A>T (p.Ile2550Phe) n.9784A>T | |
6 | g.51748108T>C | CA364420906 | PKHD1 | c.9508A>G (p.Ile3170Val) c.9379A>G (p.Ile3127Val) c.9370A>G (p.Ile3124Val) c.8866A>G (p.Ile2956Val) c.8797A>G (p.Ile2933Val) c.3583A>G (p.Ile1195Val) c.9433A>G (p.Ile3145Val) c.9313A>G (p.Ile3105Val) c.9244A>G (p.Ile3082Val) c.7648A>G (p.Ile2550Val) n.9784A>G | |
6 | g.51748108T>G | CA364420907 | PKHD1 | c.9508A>C (p.Ile3170Leu) c.9379A>C (p.Ile3127Leu) c.9370A>C (p.Ile3124Leu) c.8866A>C (p.Ile2956Leu) c.8797A>C (p.Ile2933Leu) c.3583A>C (p.Ile1195Leu) c.9433A>C (p.Ile3145Leu) c.9313A>C (p.Ile3105Leu) c.9244A>C (p.Ile3082Leu) c.7648A>C (p.Ile2550Leu) n.9784A>C | |
6 | g.51748109G>A | CA450613461 | PKHD1 | c.9507C>T (p.Asn3169=) c.9378C>T (p.Asn3126=) c.9369C>T (p.Asn3123=) c.8865C>T (p.Asn2955=) c.8796C>T (p.Asn2932=) c.3582C>T (p.Asn1194=) c.9432C>T (p.Asn3144=) c.9312C>T (p.Asn3104=) c.9243C>T (p.Asn3081=) c.7647C>T (p.Asn2549=) n.9783C>T | ClinVar dbSNP gnomAD v4 |
6 | g.51748109G>C | CA364420908 | PKHD1 | c.9507C>G (p.Asn3169Lys) c.9378C>G (p.Asn3126Lys) c.9369C>G (p.Asn3123Lys) c.8865C>G (p.Asn2955Lys) c.8796C>G (p.Asn2932Lys) c.3582C>G (p.Asn1194Lys) c.9432C>G (p.Asn3144Lys) c.9312C>G (p.Asn3104Lys) c.9243C>G (p.Asn3081Lys) c.7647C>G (p.Asn2549Lys) n.9783C>G | |
6 | g.51748109G= | CA1628502537 | PKHD1 | c.9507C= (p.Asn3169=) c.9378C= (p.Asn3126=) c.9369C= (p.Asn3123=) c.8865C= (p.Asn2955=) c.8796C= (p.Asn2932=) c.3582C= (p.Asn1194=) c.9432C= (p.Asn3144=) c.9312C= (p.Asn3104=) c.9243C= (p.Asn3081=) c.7647C= (p.Asn2549=) n.9783C= | |
6 | g.51748109G>T | CA364420909 | PKHD1 | c.9507C>A (p.Asn3169Lys) c.9378C>A (p.Asn3126Lys) c.9369C>A (p.Asn3123Lys) c.8865C>A (p.Asn2955Lys) c.8796C>A (p.Asn2932Lys) c.3582C>A (p.Asn1194Lys) c.9432C>A (p.Asn3144Lys) c.9312C>A (p.Asn3104Lys) c.9243C>A (p.Asn3081Lys) c.7647C>A (p.Asn2549Lys) n.9783C>A | |
6 | g.51748110T>A | CA364420912 | PKHD1 | c.9506A>T (p.Asn3169Ile) c.9377A>T (p.Asn3126Ile) c.9368A>T (p.Asn3123Ile) c.8864A>T (p.Asn2955Ile) c.8795A>T (p.Asn2932Ile) c.3581A>T (p.Asn1194Ile) c.9431A>T (p.Asn3144Ile) c.9311A>T (p.Asn3104Ile) c.9242A>T (p.Asn3081Ile) c.7646A>T (p.Asn2549Ile) n.9782A>T | |
6 | g.51748110T>C | CA364420910 | PKHD1 | c.9506A>G (p.Asn3169Ser) c.9377A>G (p.Asn3126Ser) c.9368A>G (p.Asn3123Ser) c.8864A>G (p.Asn2955Ser) c.8795A>G (p.Asn2932Ser) c.3581A>G (p.Asn1194Ser) c.9431A>G (p.Asn3144Ser) c.9311A>G (p.Asn3104Ser) c.9242A>G (p.Asn3081Ser) c.7646A>G (p.Asn2549Ser) n.9782A>G | |
6 | g.51748110T>G | CA364420911 | PKHD1 | c.9506A>C (p.Asn3169Thr) c.9377A>C (p.Asn3126Thr) c.9368A>C (p.Asn3123Thr) c.8864A>C (p.Asn2955Thr) c.8795A>C (p.Asn2932Thr) c.3581A>C (p.Asn1194Thr) c.9431A>C (p.Asn3144Thr) c.9311A>C (p.Asn3104Thr) c.9242A>C (p.Asn3081Thr) c.7646A>C (p.Asn2549Thr) n.9782A>C | |
6 | g.51748111T>A | CA364420913 | PKHD1 | c.9505A>T (p.Asn3169Tyr) c.9376A>T (p.Asn3126Tyr) c.9367A>T (p.Asn3123Tyr) c.8863A>T (p.Asn2955Tyr) c.8794A>T (p.Asn2932Tyr) c.3580A>T (p.Asn1194Tyr) c.9430A>T (p.Asn3144Tyr) c.9310A>T (p.Asn3104Tyr) c.9241A>T (p.Asn3081Tyr) c.7645A>T (p.Asn2549Tyr) n.9781A>T | |
6 | g.51748111T>C | CA364420914 | PKHD1 | c.9505A>G (p.Asn3169Asp) c.9376A>G (p.Asn3126Asp) c.9367A>G (p.Asn3123Asp) c.8863A>G (p.Asn2955Asp) c.8794A>G (p.Asn2932Asp) c.3580A>G (p.Asn1194Asp) c.9430A>G (p.Asn3144Asp) c.9310A>G (p.Asn3104Asp) c.9241A>G (p.Asn3081Asp) c.7645A>G (p.Asn2549Asp) n.9781A>G | |
6 | g.51748111T>G | CA364420915 | PKHD1 | c.9505A>C (p.Asn3169His) c.9376A>C (p.Asn3126His) c.9367A>C (p.Asn3123His) c.8863A>C (p.Asn2955His) c.8794A>C (p.Asn2932His) c.3580A>C (p.Asn1194His) c.9430A>C (p.Asn3144His) c.9310A>C (p.Asn3104His) c.9241A>C (p.Asn3081His) c.7645A>C (p.Asn2549His) n.9781A>C | |
6 | g.51748112C>A | CA364420916 | PKHD1 | c.9504G>T (p.Glu3168Asp) c.9375G>T (p.Glu3125Asp) c.9366G>T (p.Glu3122Asp) c.8862G>T (p.Glu2954Asp) c.8793G>T (p.Glu2931Asp) c.3579G>T (p.Glu1193Asp) c.9429G>T (p.Glu3143Asp) c.9309G>T (p.Glu3103Asp) c.9240G>T (p.Glu3080Asp) c.7644G>T (p.Glu2548Asp) n.9780G>T | |
6 | g.51748112C= | CA1628502541 | PKHD1 | c.9504G= (p.Glu3168=) c.9375G= (p.Glu3125=) c.9366G= (p.Glu3122=) c.8862G= (p.Glu2954=) c.8793G= (p.Glu2931=) c.3579G= (p.Glu1193=) c.9429G= (p.Glu3143=) c.9309G= (p.Glu3103=) c.9240G= (p.Glu3080=) c.7644G= (p.Glu2548=) n.9780G= | |
6 | g.51748112C>G | CA364420917 | PKHD1 | c.9504G>C (p.Glu3168Asp) c.9375G>C (p.Glu3125Asp) c.9366G>C (p.Glu3122Asp) c.8862G>C (p.Glu2954Asp) c.8793G>C (p.Glu2931Asp) c.3579G>C (p.Glu1193Asp) c.9429G>C (p.Glu3143Asp) c.9309G>C (p.Glu3103Asp) c.9240G>C (p.Glu3080Asp) c.7644G>C (p.Glu2548Asp) n.9780G>C | |
6 | g.51748112C>T | CA138896146 | PKHD1 | c.9504G>A (p.Glu3168=) c.9375G>A (p.Glu3125=) c.9366G>A (p.Glu3122=) c.8862G>A (p.Glu2954=) c.8793G>A (p.Glu2931=) c.3579G>A (p.Glu1193=) c.9429G>A (p.Glu3143=) c.9309G>A (p.Glu3103=) c.9240G>A (p.Glu3080=) c.7644G>A (p.Glu2548=) n.9780G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748113T>A | CA364420918 | PKHD1 | c.9503A>T (p.Glu3168Val) c.9374A>T (p.Glu3125Val) c.9365A>T (p.Glu3122Val) c.8861A>T (p.Glu2954Val) c.8792A>T (p.Glu2931Val) c.3578A>T (p.Glu1193Val) c.9428A>T (p.Glu3143Val) c.9308A>T (p.Glu3103Val) c.9239A>T (p.Glu3080Val) c.7643A>T (p.Glu2548Val) n.9779A>T | |
6 | g.51748113T>C | CA364420919 | PKHD1 | c.9503A>G (p.Glu3168Gly) c.9374A>G (p.Glu3125Gly) c.9365A>G (p.Glu3122Gly) c.8861A>G (p.Glu2954Gly) c.8792A>G (p.Glu2931Gly) c.3578A>G (p.Glu1193Gly) c.9428A>G (p.Glu3143Gly) c.9308A>G (p.Glu3103Gly) c.9239A>G (p.Glu3080Gly) c.7643A>G (p.Glu2548Gly) n.9779A>G | |
6 | g.51748113T>G | CA364420920 | PKHD1 | c.9503A>C (p.Glu3168Ala) c.9374A>C (p.Glu3125Ala) c.9365A>C (p.Glu3122Ala) c.8861A>C (p.Glu2954Ala) c.8792A>C (p.Glu2931Ala) c.3578A>C (p.Glu1193Ala) c.9428A>C (p.Glu3143Ala) c.9308A>C (p.Glu3103Ala) c.9239A>C (p.Glu3080Ala) c.7643A>C (p.Glu2548Ala) n.9779A>C | |
6 | g.51748114C>A | CA364420921 | PKHD1 | c.9502G>T (p.Glu3168Ter) c.9373G>T (p.Glu3125Ter) c.9364G>T (p.Glu3122Ter) c.8860G>T (p.Glu2954Ter) c.8791G>T (p.Glu2931Ter) c.3577G>T (p.Glu1193Ter) c.9427G>T (p.Glu3143Ter) c.9307G>T (p.Glu3103Ter) c.9238G>T (p.Glu3080Ter) c.7642G>T (p.Glu2548Ter) n.9778G>T | gnomAD v4 |
6 | g.51748114C>G | CA364420922 | PKHD1 | c.9502G>C (p.Glu3168Gln) c.9373G>C (p.Glu3125Gln) c.9364G>C (p.Glu3122Gln) c.8860G>C (p.Glu2954Gln) c.8791G>C (p.Glu2931Gln) c.3577G>C (p.Glu1193Gln) c.9427G>C (p.Glu3143Gln) c.9307G>C (p.Glu3103Gln) c.9238G>C (p.Glu3080Gln) c.7642G>C (p.Glu2548Gln) n.9778G>C | |
6 | g.51748114C>T | CA364420923 | PKHD1 | c.9502G>A (p.Glu3168Lys) c.9373G>A (p.Glu3125Lys) c.9364G>A (p.Glu3122Lys) c.8860G>A (p.Glu2954Lys) c.8791G>A (p.Glu2931Lys) c.3577G>A (p.Glu1193Lys) c.9427G>A (p.Glu3143Lys) c.9307G>A (p.Glu3103Lys) c.9238G>A (p.Glu3080Lys) c.7642G>A (p.Glu2548Lys) n.9778G>A | gnomAD v4 |
6 | g.51748115T>A | CA450613463 | PKHD1 | c.9501A>T (p.Ile3167=) c.9372A>T (p.Ile3124=) c.9363A>T (p.Ile3121=) c.8859A>T (p.Ile2953=) c.8790A>T (p.Ile2930=) c.3576A>T (p.Ile1192=) c.9426A>T (p.Ile3142=) c.9306A>T (p.Ile3102=) c.9237A>T (p.Ile3079=) c.7641A>T (p.Ile2547=) n.9777A>T | |
6 | g.51748115T>C | CA364420924 | PKHD1 | c.9501A>G (p.Ile3167Met) c.9372A>G (p.Ile3124Met) c.9363A>G (p.Ile3121Met) c.8859A>G (p.Ile2953Met) c.8790A>G (p.Ile2930Met) c.3576A>G (p.Ile1192Met) c.9426A>G (p.Ile3142Met) c.9306A>G (p.Ile3102Met) c.9237A>G (p.Ile3079Met) c.7641A>G (p.Ile2547Met) n.9777A>G | dbSNP gnomAD v2 |
6 | g.51748115T>G | CA450613465 | PKHD1 | c.9501A>C (p.Ile3167=) c.9372A>C (p.Ile3124=) c.9363A>C (p.Ile3121=) c.8859A>C (p.Ile2953=) c.8790A>C (p.Ile2930=) c.3576A>C (p.Ile1192=) c.9426A>C (p.Ile3142=) c.9306A>C (p.Ile3102=) c.9237A>C (p.Ile3079=) c.7641A>C (p.Ile2547=) n.9777A>C | gnomAD v4 |
6 | g.51748115T= | CA1628502546 | PKHD1 | c.9501A= (p.Ile3167=) c.9372A= (p.Ile3124=) c.9363A= (p.Ile3121=) c.8859A= (p.Ile2953=) c.8790A= (p.Ile2930=) c.3576A= (p.Ile1192=) c.9426A= (p.Ile3142=) c.9306A= (p.Ile3102=) c.9237A= (p.Ile3079=) c.7641A= (p.Ile2547=) n.9777A= | |
6 | g.51748116A= | CA1628502550 | PKHD1 | c.9500T= (p.Ile3167=) c.9371T= (p.Ile3124=) c.9362T= (p.Ile3121=) c.8858T= (p.Ile2953=) c.8789T= (p.Ile2930=) c.3575T= (p.Ile1192=) c.9425T= (p.Ile3142=) c.9305T= (p.Ile3102=) c.9236T= (p.Ile3079=) c.7640T= (p.Ile2547=) n.9776T= | |
6 | g.51748116A>C | CA364420926 | PKHD1 | c.9500T>G (p.Ile3167Arg) c.9371T>G (p.Ile3124Arg) c.9362T>G (p.Ile3121Arg) c.8858T>G (p.Ile2953Arg) c.8789T>G (p.Ile2930Arg) c.3575T>G (p.Ile1192Arg) c.9425T>G (p.Ile3142Arg) c.9305T>G (p.Ile3102Arg) c.9236T>G (p.Ile3079Arg) c.7640T>G (p.Ile2547Arg) n.9776T>G | gnomAD v4 |
6 | g.51748116A>G | CA3851381 | PKHD1 | c.9500T>C (p.Ile3167Thr) c.9371T>C (p.Ile3124Thr) c.9362T>C (p.Ile3121Thr) c.8858T>C (p.Ile2953Thr) c.8789T>C (p.Ile2930Thr) c.3575T>C (p.Ile1192Thr) c.9425T>C (p.Ile3142Thr) c.9305T>C (p.Ile3102Thr) c.9236T>C (p.Ile3079Thr) c.7640T>C (p.Ile2547Thr) n.9776T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748116A>T | CA364420925 | PKHD1 | c.9500T>A (p.Ile3167Lys) c.9371T>A (p.Ile3124Lys) c.9362T>A (p.Ile3121Lys) c.8858T>A (p.Ile2953Lys) c.8789T>A (p.Ile2930Lys) c.3575T>A (p.Ile1192Lys) c.9425T>A (p.Ile3142Lys) c.9305T>A (p.Ile3102Lys) c.9236T>A (p.Ile3079Lys) c.7640T>A (p.Ile2547Lys) n.9776T>A | |
6 | g.51748117T>A | CA364420927 | PKHD1 | c.9499A>T (p.Ile3167Leu) c.9370A>T (p.Ile3124Leu) c.9361A>T (p.Ile3121Leu) c.8857A>T (p.Ile2953Leu) c.8788A>T (p.Ile2930Leu) c.3574A>T (p.Ile1192Leu) c.9424A>T (p.Ile3142Leu) c.9304A>T (p.Ile3102Leu) c.9235A>T (p.Ile3079Leu) c.7639A>T (p.Ile2547Leu) n.9775A>T | |
6 | g.51748117T>C | CA364420928 | PKHD1 | c.9499A>G (p.Ile3167Val) c.9370A>G (p.Ile3124Val) c.9361A>G (p.Ile3121Val) c.8857A>G (p.Ile2953Val) c.8788A>G (p.Ile2930Val) c.3574A>G (p.Ile1192Val) c.9424A>G (p.Ile3142Val) c.9304A>G (p.Ile3102Val) c.9235A>G (p.Ile3079Val) c.7639A>G (p.Ile2547Val) n.9775A>G | gnomAD v4 |
6 | g.51748117T>G | CA364420929 | PKHD1 | c.9499A>C (p.Ile3167Leu) c.9370A>C (p.Ile3124Leu) c.9361A>C (p.Ile3121Leu) c.8857A>C (p.Ile2953Leu) c.8788A>C (p.Ile2930Leu) c.3574A>C (p.Ile1192Leu) c.9424A>C (p.Ile3142Leu) c.9304A>C (p.Ile3102Leu) c.9235A>C (p.Ile3079Leu) c.7639A>C (p.Ile2547Leu) n.9775A>C | |
6 | g.51748118C>A | CA364420930 | PKHD1 | c.9498G>T (p.Glu3166Asp) c.9369G>T (p.Glu3123Asp) c.9360G>T (p.Glu3120Asp) c.8856G>T (p.Glu2952Asp) c.8787G>T (p.Glu2929Asp) c.3573G>T (p.Glu1191Asp) c.9423G>T (p.Glu3141Asp) c.9303G>T (p.Glu3101Asp) c.9234G>T (p.Glu3078Asp) c.7638G>T (p.Glu2546Asp) n.9774G>T | |
6 | g.51748118C>G | CA364420931 | PKHD1 | c.9498G>C (p.Glu3166Asp) c.9369G>C (p.Glu3123Asp) c.9360G>C (p.Glu3120Asp) c.8856G>C (p.Glu2952Asp) c.8787G>C (p.Glu2929Asp) c.3573G>C (p.Glu1191Asp) c.9423G>C (p.Glu3141Asp) c.9303G>C (p.Glu3101Asp) c.9234G>C (p.Glu3078Asp) c.7638G>C (p.Glu2546Asp) n.9774G>C | |
6 | g.51748118C>T | CA450613467 | PKHD1 | c.9498G>A (p.Glu3166=) c.9369G>A (p.Glu3123=) c.9360G>A (p.Glu3120=) c.8856G>A (p.Glu2952=) c.8787G>A (p.Glu2929=) c.3573G>A (p.Glu1191=) c.9423G>A (p.Glu3141=) c.9303G>A (p.Glu3101=) c.9234G>A (p.Glu3078=) c.7638G>A (p.Glu2546=) n.9774G>A | |
6 | g.51748119T>A | CA364420934 | PKHD1 | c.9497A>T (p.Glu3166Val) c.9368A>T (p.Glu3123Val) c.9359A>T (p.Glu3120Val) c.8855A>T (p.Glu2952Val) c.8786A>T (p.Glu2929Val) c.3572A>T (p.Glu1191Val) c.9422A>T (p.Glu3141Val) c.9302A>T (p.Glu3101Val) c.9233A>T (p.Glu3078Val) c.7637A>T (p.Glu2546Val) n.9773A>T | |
6 | g.51748119T>C | CA364420933 | PKHD1 | c.9497A>G (p.Glu3166Gly) c.9368A>G (p.Glu3123Gly) c.9359A>G (p.Glu3120Gly) c.8855A>G (p.Glu2952Gly) c.8786A>G (p.Glu2929Gly) c.3572A>G (p.Glu1191Gly) c.9422A>G (p.Glu3141Gly) c.9302A>G (p.Glu3101Gly) c.9233A>G (p.Glu3078Gly) c.7637A>G (p.Glu2546Gly) n.9773A>G | |
6 | g.51748119T>G | CA364420932 | PKHD1 | c.9497A>C (p.Glu3166Ala) c.9368A>C (p.Glu3123Ala) c.9359A>C (p.Glu3120Ala) c.8855A>C (p.Glu2952Ala) c.8786A>C (p.Glu2929Ala) c.3572A>C (p.Glu1191Ala) c.9422A>C (p.Glu3141Ala) c.9302A>C (p.Glu3101Ala) c.9233A>C (p.Glu3078Ala) c.7637A>C (p.Glu2546Ala) n.9773A>C | |
6 | g.51748120C>A | CA364420935 | PKHD1 | c.9496G>T (p.Glu3166Ter) c.9367G>T (p.Glu3123Ter) c.9358G>T (p.Glu3120Ter) c.8854G>T (p.Glu2952Ter) c.8785G>T (p.Glu2929Ter) c.3571G>T (p.Glu1191Ter) c.9421G>T (p.Glu3141Ter) c.9301G>T (p.Glu3101Ter) c.9232G>T (p.Glu3078Ter) c.7636G>T (p.Glu2546Ter) n.9772G>T | |
6 | g.51748120C= | CA1628502556 | PKHD1 | c.9496G= (p.Glu3166=) c.9367G= (p.Glu3123=) c.9358G= (p.Glu3120=) c.8854G= (p.Glu2952=) c.8785G= (p.Glu2929=) c.3571G= (p.Glu1191=) c.9421G= (p.Glu3141=) c.9301G= (p.Glu3101=) c.9232G= (p.Glu3078=) c.7636G= (p.Glu2546=) n.9772G= | |
6 | g.51748120C>G | CA3851382 | PKHD1 | c.9496G>C (p.Glu3166Gln) c.9367G>C (p.Glu3123Gln) c.9358G>C (p.Glu3120Gln) c.8854G>C (p.Glu2952Gln) c.8785G>C (p.Glu2929Gln) c.3571G>C (p.Glu1191Gln) c.9421G>C (p.Glu3141Gln) c.9301G>C (p.Glu3101Gln) c.9232G>C (p.Glu3078Gln) c.7636G>C (p.Glu2546Gln) n.9772G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748120C>T | CA364420936 | PKHD1 | c.9496G>A (p.Glu3166Lys) c.9367G>A (p.Glu3123Lys) c.9358G>A (p.Glu3120Lys) c.8854G>A (p.Glu2952Lys) c.8785G>A (p.Glu2929Lys) c.3571G>A (p.Glu1191Lys) c.9421G>A (p.Glu3141Lys) c.9301G>A (p.Glu3101Lys) c.9232G>A (p.Glu3078Lys) c.7636G>A (p.Glu2546Lys) n.9772G>A | gnomAD v4 |
6 | g.51748121C>A | CA450613469 | PKHD1 | c.9495G>T (p.Val3165=) c.9366G>T (p.Val3122=) c.9357G>T (p.Val3119=) c.8853G>T (p.Val2951=) c.8784G>T (p.Val2928=) c.3570G>T (p.Val1190=) c.9420G>T (p.Val3140=) c.9300G>T (p.Val3100=) c.9231G>T (p.Val3077=) c.7635G>T (p.Val2545=) n.9771G>T | |
6 | g.51748121C>G | CA450613470 | PKHD1 | c.9495G>C (p.Val3165=) c.9366G>C (p.Val3122=) c.9357G>C (p.Val3119=) c.8853G>C (p.Val2951=) c.8784G>C (p.Val2928=) c.3570G>C (p.Val1190=) c.9420G>C (p.Val3140=) c.9300G>C (p.Val3100=) c.9231G>C (p.Val3077=) c.7635G>C (p.Val2545=) n.9771G>C | |
6 | g.51748121C>T | CA450613471 | PKHD1 | c.9495G>A (p.Val3165=) c.9366G>A (p.Val3122=) c.9357G>A (p.Val3119=) c.8853G>A (p.Val2951=) c.8784G>A (p.Val2928=) c.3570G>A (p.Val1190=) c.9420G>A (p.Val3140=) c.9300G>A (p.Val3100=) c.9231G>A (p.Val3077=) c.7635G>A (p.Val2545=) n.9771G>A | COSMIC COSMIC |
6 | g.51748122A>C | CA364420937 | PKHD1 | c.9494T>G (p.Val3165Gly) c.9365T>G (p.Val3122Gly) c.9356T>G (p.Val3119Gly) c.8852T>G (p.Val2951Gly) c.8783T>G (p.Val2928Gly) c.3569T>G (p.Val1190Gly) c.9419T>G (p.Val3140Gly) c.9299T>G (p.Val3100Gly) c.9230T>G (p.Val3077Gly) c.7634T>G (p.Val2545Gly) n.9770T>G | |
6 | g.51748122A>G | CA364420938 | PKHD1 | c.9494T>C (p.Val3165Ala) c.9365T>C (p.Val3122Ala) c.9356T>C (p.Val3119Ala) c.8852T>C (p.Val2951Ala) c.8783T>C (p.Val2928Ala) c.3569T>C (p.Val1190Ala) c.9419T>C (p.Val3140Ala) c.9299T>C (p.Val3100Ala) c.9230T>C (p.Val3077Ala) c.7634T>C (p.Val2545Ala) n.9770T>C | |
6 | g.51748122A>T | CA364420939 | PKHD1 | c.9494T>A (p.Val3165Glu) c.9365T>A (p.Val3122Glu) c.9356T>A (p.Val3119Glu) c.8852T>A (p.Val2951Glu) c.8783T>A (p.Val2928Glu) c.3569T>A (p.Val1190Glu) c.9419T>A (p.Val3140Glu) c.9299T>A (p.Val3100Glu) c.9230T>A (p.Val3077Glu) c.7634T>A (p.Val2545Glu) n.9770T>A | |
6 | g.51748123C>A | CA364420940 | PKHD1 | c.9493G>T (p.Val3165Leu) c.9364G>T (p.Val3122Leu) c.9355G>T (p.Val3119Leu) c.8851G>T (p.Val2951Leu) c.8782G>T (p.Val2928Leu) c.3568G>T (p.Val1190Leu) c.9418G>T (p.Val3140Leu) c.9298G>T (p.Val3100Leu) c.9229G>T (p.Val3077Leu) c.7633G>T (p.Val2545Leu) n.9769G>T | |
6 | g.51748123C= | CA1628502577 | PKHD1 | c.9493G= (p.Val3165=) c.9364G= (p.Val3122=) c.9355G= (p.Val3119=) c.8851G= (p.Val2951=) c.8782G= (p.Val2928=) c.3568G= (p.Val1190=) c.9418G= (p.Val3140=) c.9298G= (p.Val3100=) c.9229G= (p.Val3077=) c.7633G= (p.Val2545=) n.9769G= | |
6 | g.51748123C>G | CA364420941 | PKHD1 | c.9493G>C (p.Val3165Leu) c.9364G>C (p.Val3122Leu) c.9355G>C (p.Val3119Leu) c.8851G>C (p.Val2951Leu) c.8782G>C (p.Val2928Leu) c.3568G>C (p.Val1190Leu) c.9418G>C (p.Val3140Leu) c.9298G>C (p.Val3100Leu) c.9229G>C (p.Val3077Leu) c.7633G>C (p.Val2545Leu) n.9769G>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748123C>T | CA3851383 | PKHD1 | c.9493G>A (p.Val3165Met) c.9364G>A (p.Val3122Met) c.9355G>A (p.Val3119Met) c.8851G>A (p.Val2951Met) c.8782G>A (p.Val2928Met) c.3568G>A (p.Val1190Met) c.9418G>A (p.Val3140Met) c.9298G>A (p.Val3100Met) c.9229G>A (p.Val3077Met) c.7633G>A (p.Val2545Met) n.9769G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748124G>A | CA149537 | PKHD1 | c.9492C>T (p.Ser3164=) c.9363C>T (p.Ser3121=) c.9354C>T (p.Ser3118=) c.8850C>T (p.Ser2950=) c.8781C>T (p.Ser2927=) c.3567C>T (p.Ser1189=) c.9417C>T (p.Ser3139=) c.9297C>T (p.Ser3099=) c.9228C>T (p.Ser3076=) c.7632C>T (p.Ser2544=) n.9768C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748124G>C | CA364420942 | PKHD1 | c.9492C>G (p.Ser3164Arg) c.9363C>G (p.Ser3121Arg) c.9354C>G (p.Ser3118Arg) c.8850C>G (p.Ser2950Arg) c.8781C>G (p.Ser2927Arg) c.3567C>G (p.Ser1189Arg) c.9417C>G (p.Ser3139Arg) c.9297C>G (p.Ser3099Arg) c.9228C>G (p.Ser3076Arg) c.7632C>G (p.Ser2544Arg) n.9768C>G | |
6 | g.51748124G= | CA1628502578 | PKHD1 | c.9492C= (p.Ser3164=) c.9363C= (p.Ser3121=) c.9354C= (p.Ser3118=) c.8850C= (p.Ser2950=) c.8781C= (p.Ser2927=) c.3567C= (p.Ser1189=) c.9417C= (p.Ser3139=) c.9297C= (p.Ser3099=) c.9228C= (p.Ser3076=) c.7632C= (p.Ser2544=) n.9768C= | |
6 | g.51748124G>T | CA364420943 | PKHD1 | c.9492C>A (p.Ser3164Arg) c.9363C>A (p.Ser3121Arg) c.9354C>A (p.Ser3118Arg) c.8850C>A (p.Ser2950Arg) c.8781C>A (p.Ser2927Arg) c.3567C>A (p.Ser1189Arg) c.9417C>A (p.Ser3139Arg) c.9297C>A (p.Ser3099Arg) c.9228C>A (p.Ser3076Arg) c.7632C>A (p.Ser2544Arg) n.9768C>A | |
6 | g.51748125C>A | CA364420944 | PKHD1 | c.9491G>T (p.Ser3164Ile) c.9362G>T (p.Ser3121Ile) c.9353G>T (p.Ser3118Ile) c.8849G>T (p.Ser2950Ile) c.8780G>T (p.Ser2927Ile) c.3566G>T (p.Ser1189Ile) c.9416G>T (p.Ser3139Ile) c.9296G>T (p.Ser3099Ile) c.9227G>T (p.Ser3076Ile) c.7631G>T (p.Ser2544Ile) n.9767G>T | |
6 | g.51748125C>G | CA364420945 | PKHD1 | c.9491G>C (p.Ser3164Thr) c.9362G>C (p.Ser3121Thr) c.9353G>C (p.Ser3118Thr) c.8849G>C (p.Ser2950Thr) c.8780G>C (p.Ser2927Thr) c.3566G>C (p.Ser1189Thr) c.9416G>C (p.Ser3139Thr) c.9296G>C (p.Ser3099Thr) c.9227G>C (p.Ser3076Thr) c.7631G>C (p.Ser2544Thr) n.9767G>C | |
6 | g.51748125C>T | CA364420946 | PKHD1 | c.9491G>A (p.Ser3164Asn) c.9362G>A (p.Ser3121Asn) c.9353G>A (p.Ser3118Asn) c.8849G>A (p.Ser2950Asn) c.8780G>A (p.Ser2927Asn) c.3566G>A (p.Ser1189Asn) c.9416G>A (p.Ser3139Asn) c.9296G>A (p.Ser3099Asn) c.9227G>A (p.Ser3076Asn) c.7631G>A (p.Ser2544Asn) n.9767G>A | |
6 | g.51748126T>A | CA364420947 | PKHD1 | c.9490A>T (p.Ser3164Cys) c.9361A>T (p.Ser3121Cys) c.9352A>T (p.Ser3118Cys) c.8848A>T (p.Ser2950Cys) c.8779A>T (p.Ser2927Cys) c.3565A>T (p.Ser1189Cys) c.9415A>T (p.Ser3139Cys) c.9295A>T (p.Ser3099Cys) c.9226A>T (p.Ser3076Cys) c.7630A>T (p.Ser2544Cys) n.9766A>T | |
6 | g.51748126T>C | CA364420948 | PKHD1 | c.9490A>G (p.Ser3164Gly) c.9361A>G (p.Ser3121Gly) c.9352A>G (p.Ser3118Gly) c.8848A>G (p.Ser2950Gly) c.8779A>G (p.Ser2927Gly) c.3565A>G (p.Ser1189Gly) c.9415A>G (p.Ser3139Gly) c.9295A>G (p.Ser3099Gly) c.9226A>G (p.Ser3076Gly) c.7630A>G (p.Ser2544Gly) n.9766A>G | |
6 | g.51748126T>G | CA364420949 | PKHD1 | c.9490A>C (p.Ser3164Arg) c.9361A>C (p.Ser3121Arg) c.9352A>C (p.Ser3118Arg) c.8848A>C (p.Ser2950Arg) c.8779A>C (p.Ser2927Arg) c.3565A>C (p.Ser1189Arg) c.9415A>C (p.Ser3139Arg) c.9295A>C (p.Ser3099Arg) c.9226A>C (p.Ser3076Arg) c.7630A>C (p.Ser2544Arg) n.9766A>C | |
6 | g.51748127G>A | CA450613478 | PKHD1 | c.9489C>T (p.Asn3163=) c.9360C>T (p.Asn3120=) c.9351C>T (p.Asn3117=) c.8847C>T (p.Asn2949=) c.8778C>T (p.Asn2926=) c.3564C>T (p.Asn1188=) c.9414C>T (p.Asn3138=) c.9294C>T (p.Asn3098=) c.9225C>T (p.Asn3075=) c.7629C>T (p.Asn2543=) n.9765C>T | |
6 | g.51748127G>C | CA364420950 | PKHD1 | c.9489C>G (p.Asn3163Lys) c.9360C>G (p.Asn3120Lys) c.9351C>G (p.Asn3117Lys) c.8847C>G (p.Asn2949Lys) c.8778C>G (p.Asn2926Lys) c.3564C>G (p.Asn1188Lys) c.9414C>G (p.Asn3138Lys) c.9294C>G (p.Asn3098Lys) c.9225C>G (p.Asn3075Lys) c.7629C>G (p.Asn2543Lys) n.9765C>G | |
6 | g.51748127G>T | CA364420951 | PKHD1 | c.9489C>A (p.Asn3163Lys) c.9360C>A (p.Asn3120Lys) c.9351C>A (p.Asn3117Lys) c.8847C>A (p.Asn2949Lys) c.8778C>A (p.Asn2926Lys) c.3564C>A (p.Asn1188Lys) c.9414C>A (p.Asn3138Lys) c.9294C>A (p.Asn3098Lys) c.9225C>A (p.Asn3075Lys) c.7629C>A (p.Asn2543Lys) n.9765C>A | COSMIC COSMIC |
6 | g.51748128T>A | CA364420952 | PKHD1 | c.9488A>T (p.Asn3163Ile) c.9359A>T (p.Asn3120Ile) c.9350A>T (p.Asn3117Ile) c.8846A>T (p.Asn2949Ile) c.8777A>T (p.Asn2926Ile) c.3563A>T (p.Asn1188Ile) c.9413A>T (p.Asn3138Ile) c.9293A>T (p.Asn3098Ile) c.9224A>T (p.Asn3075Ile) c.7628A>T (p.Asn2543Ile) n.9764A>T | |
6 | g.51748128T>C | CA364420954 | PKHD1 | c.9488A>G (p.Asn3163Ser) c.9359A>G (p.Asn3120Ser) c.9350A>G (p.Asn3117Ser) c.8846A>G (p.Asn2949Ser) c.8777A>G (p.Asn2926Ser) c.3563A>G (p.Asn1188Ser) c.9413A>G (p.Asn3138Ser) c.9293A>G (p.Asn3098Ser) c.9224A>G (p.Asn3075Ser) c.7628A>G (p.Asn2543Ser) n.9764A>G | |
6 | g.51748128T>G | CA364420953 | PKHD1 | c.9488A>C (p.Asn3163Thr) c.9359A>C (p.Asn3120Thr) c.9350A>C (p.Asn3117Thr) c.8846A>C (p.Asn2949Thr) c.8777A>C (p.Asn2926Thr) c.3563A>C (p.Asn1188Thr) c.9413A>C (p.Asn3138Thr) c.9293A>C (p.Asn3098Thr) c.9224A>C (p.Asn3075Thr) c.7628A>C (p.Asn2543Thr) n.9764A>C | |
6 | g.51748129T>A | CA138896163 | PKHD1 | c.9487A>T (p.Asn3163Tyr) c.9358A>T (p.Asn3120Tyr) c.9349A>T (p.Asn3117Tyr) c.8845A>T (p.Asn2949Tyr) c.8776A>T (p.Asn2926Tyr) c.3562A>T (p.Asn1188Tyr) c.9412A>T (p.Asn3138Tyr) c.9292A>T (p.Asn3098Tyr) c.9223A>T (p.Asn3075Tyr) c.7627A>T (p.Asn2543Tyr) n.9763A>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748129T>C | CA364420955 | PKHD1 | c.9487A>G (p.Asn3163Asp) c.9358A>G (p.Asn3120Asp) c.9349A>G (p.Asn3117Asp) c.8845A>G (p.Asn2949Asp) c.8776A>G (p.Asn2926Asp) c.3562A>G (p.Asn1188Asp) c.9412A>G (p.Asn3138Asp) c.9292A>G (p.Asn3098Asp) c.9223A>G (p.Asn3075Asp) c.7627A>G (p.Asn2543Asp) n.9763A>G | |
6 | g.51748129T>G | CA364420956 | PKHD1 | c.9487A>C (p.Asn3163His) c.9358A>C (p.Asn3120His) c.9349A>C (p.Asn3117His) c.8845A>C (p.Asn2949His) c.8776A>C (p.Asn2926His) c.3562A>C (p.Asn1188His) c.9412A>C (p.Asn3138His) c.9292A>C (p.Asn3098His) c.9223A>C (p.Asn3075His) c.7627A>C (p.Asn2543His) n.9763A>C | |
6 | g.51748129T= | CA1628502583 | PKHD1 | c.9487A= (p.Asn3163=) c.9358A= (p.Asn3120=) c.9349A= (p.Asn3117=) c.8845A= (p.Asn2949=) c.8776A= (p.Asn2926=) c.3562A= (p.Asn1188=) c.9412A= (p.Asn3138=) c.9292A= (p.Asn3098=) c.9223A= (p.Asn3075=) c.7627A= (p.Asn2543=) n.9763A= | |
6 | g.51748130C>A | CA364420957 | PKHD1 | c.9486G>T (p.Glu3162Asp) c.9357G>T (p.Glu3119Asp) c.9348G>T (p.Glu3116Asp) c.8844G>T (p.Glu2948Asp) c.8775G>T (p.Glu2925Asp) c.3561G>T (p.Glu1187Asp) c.9411G>T (p.Glu3137Asp) c.9291G>T (p.Glu3097Asp) c.9222G>T (p.Glu3074Asp) c.7626G>T (p.Glu2542Asp) n.9762G>T | COSMIC COSMIC |
6 | g.51748130C>G | CA364420958 | PKHD1 | c.9486G>C (p.Glu3162Asp) c.9357G>C (p.Glu3119Asp) c.9348G>C (p.Glu3116Asp) c.8844G>C (p.Glu2948Asp) c.8775G>C (p.Glu2925Asp) c.3561G>C (p.Glu1187Asp) c.9411G>C (p.Glu3137Asp) c.9291G>C (p.Glu3097Asp) c.9222G>C (p.Glu3074Asp) c.7626G>C (p.Glu2542Asp) n.9762G>C | |
6 | g.51748130C>T | CA450613480 | PKHD1 | c.9486G>A (p.Glu3162=) c.9357G>A (p.Glu3119=) c.9348G>A (p.Glu3116=) c.8844G>A (p.Glu2948=) c.8775G>A (p.Glu2925=) c.3561G>A (p.Glu1187=) c.9411G>A (p.Glu3137=) c.9291G>A (p.Glu3097=) c.9222G>A (p.Glu3074=) c.7626G>A (p.Glu2542=) n.9762G>A | |
6 | g.51748131T>A | CA364420959 | PKHD1 | c.9485A>T (p.Glu3162Val) c.9356A>T (p.Glu3119Val) c.9347A>T (p.Glu3116Val) c.8843A>T (p.Glu2948Val) c.8774A>T (p.Glu2925Val) c.3560A>T (p.Glu1187Val) c.9410A>T (p.Glu3137Val) c.9290A>T (p.Glu3097Val) c.9221A>T (p.Glu3074Val) c.7625A>T (p.Glu2542Val) n.9761A>T | |
6 | g.51748131T>C | CA138896165 | PKHD1 | c.9485A>G (p.Glu3162Gly) c.9356A>G (p.Glu3119Gly) c.9347A>G (p.Glu3116Gly) c.8843A>G (p.Glu2948Gly) c.8774A>G (p.Glu2925Gly) c.3560A>G (p.Glu1187Gly) c.9410A>G (p.Glu3137Gly) c.9290A>G (p.Glu3097Gly) c.9221A>G (p.Glu3074Gly) c.7625A>G (p.Glu2542Gly) n.9761A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748131T>G | CA364420960 | PKHD1 | c.9485A>C (p.Glu3162Ala) c.9356A>C (p.Glu3119Ala) c.9347A>C (p.Glu3116Ala) c.8843A>C (p.Glu2948Ala) c.8774A>C (p.Glu2925Ala) c.3560A>C (p.Glu1187Ala) c.9410A>C (p.Glu3137Ala) c.9290A>C (p.Glu3097Ala) c.9221A>C (p.Glu3074Ala) c.7625A>C (p.Glu2542Ala) n.9761A>C | |
6 | g.51748131T= | CA1628502587 | PKHD1 | c.9485A= (p.Glu3162=) c.9356A= (p.Glu3119=) c.9347A= (p.Glu3116=) c.8843A= (p.Glu2948=) c.8774A= (p.Glu2925=) c.3560A= (p.Glu1187=) c.9410A= (p.Glu3137=) c.9290A= (p.Glu3097=) c.9221A= (p.Glu3074=) c.7625A= (p.Glu2542=) n.9761A= | |
6 | g.51748132C>A | CA364420961 | PKHD1 | c.9484G>T (p.Glu3162Ter) c.9355G>T (p.Glu3119Ter) c.9346G>T (p.Glu3116Ter) c.8842G>T (p.Glu2948Ter) c.8773G>T (p.Glu2925Ter) c.3559G>T (p.Glu1187Ter) c.9409G>T (p.Glu3137Ter) c.9289G>T (p.Glu3097Ter) c.9220G>T (p.Glu3074Ter) c.7624G>T (p.Glu2542Ter) n.9760G>T | |
6 | g.51748132C>G | CA364420962 | PKHD1 | c.9484G>C (p.Glu3162Gln) c.9355G>C (p.Glu3119Gln) c.9346G>C (p.Glu3116Gln) c.8842G>C (p.Glu2948Gln) c.8773G>C (p.Glu2925Gln) c.3559G>C (p.Glu1187Gln) c.9409G>C (p.Glu3137Gln) c.9289G>C (p.Glu3097Gln) c.9220G>C (p.Glu3074Gln) c.7624G>C (p.Glu2542Gln) n.9760G>C | |
6 | g.51748132C>T | CA364420963 | PKHD1 | c.9484G>A (p.Glu3162Lys) c.9355G>A (p.Glu3119Lys) c.9346G>A (p.Glu3116Lys) c.8842G>A (p.Glu2948Lys) c.8773G>A (p.Glu2925Lys) c.3559G>A (p.Glu1187Lys) c.9409G>A (p.Glu3137Lys) c.9289G>A (p.Glu3097Lys) c.9220G>A (p.Glu3074Lys) c.7624G>A (p.Glu2542Lys) n.9760G>A | |
6 | g.51748133T>A | CA450613484 | PKHD1 | c.9483A>T (p.Val3161=) c.9354A>T (p.Val3118=) c.9345A>T (p.Val3115=) c.8841A>T (p.Val2947=) c.8772A>T (p.Val2924=) c.3558A>T (p.Val1186=) c.9408A>T (p.Val3136=) c.9288A>T (p.Val3096=) c.9219A>T (p.Val3073=) c.7623A>T (p.Val2541=) n.9759A>T | |
6 | g.51748133T>C | CA450613485 | PKHD1 | c.9483A>G (p.Val3161=) c.9354A>G (p.Val3118=) c.9345A>G (p.Val3115=) c.8841A>G (p.Val2947=) c.8772A>G (p.Val2924=) c.3558A>G (p.Val1186=) c.9408A>G (p.Val3136=) c.9288A>G (p.Val3096=) c.9219A>G (p.Val3073=) c.7623A>G (p.Val2541=) n.9759A>G | |
6 | g.51748133T>G | CA450613486 | PKHD1 | c.9483A>C (p.Val3161=) c.9354A>C (p.Val3118=) c.9345A>C (p.Val3115=) c.8841A>C (p.Val2947=) c.8772A>C (p.Val2924=) c.3558A>C (p.Val1186=) c.9408A>C (p.Val3136=) c.9288A>C (p.Val3096=) c.9219A>C (p.Val3073=) c.7623A>C (p.Val2541=) n.9759A>C | |
6 | g.51748134A= | CA1628502590 | PKHD1 | c.9482T= (p.Val3161=) c.9353T= (p.Val3118=) c.9344T= (p.Val3115=) c.8840T= (p.Val2947=) c.8771T= (p.Val2924=) c.3557T= (p.Val1186=) c.9407T= (p.Val3136=) c.9287T= (p.Val3096=) c.9218T= (p.Val3073=) c.7622T= (p.Val2541=) n.9758T= | |
6 | g.51748134A>C | CA364420966 | PKHD1 | c.9482T>G (p.Val3161Gly) c.9353T>G (p.Val3118Gly) c.9344T>G (p.Val3115Gly) c.8840T>G (p.Val2947Gly) c.8771T>G (p.Val2924Gly) c.3557T>G (p.Val1186Gly) c.9407T>G (p.Val3136Gly) c.9287T>G (p.Val3096Gly) c.9218T>G (p.Val3073Gly) c.7622T>G (p.Val2541Gly) n.9758T>G | |
6 | g.51748134A>G | CA364420965 | PKHD1 | c.9482T>C (p.Val3161Ala) c.9353T>C (p.Val3118Ala) c.9344T>C (p.Val3115Ala) c.8840T>C (p.Val2947Ala) c.8771T>C (p.Val2924Ala) c.3557T>C (p.Val1186Ala) c.9407T>C (p.Val3136Ala) c.9287T>C (p.Val3096Ala) c.9218T>C (p.Val3073Ala) c.7622T>C (p.Val2541Ala) n.9758T>C | dbSNP |
6 | g.51748134A>T | CA364420964 | PKHD1 | c.9482T>A (p.Val3161Glu) c.9353T>A (p.Val3118Glu) c.9344T>A (p.Val3115Glu) c.8840T>A (p.Val2947Glu) c.8771T>A (p.Val2924Glu) c.3557T>A (p.Val1186Glu) c.9407T>A (p.Val3136Glu) c.9287T>A (p.Val3096Glu) c.9218T>A (p.Val3073Glu) c.7622T>A (p.Val2541Glu) n.9758T>A | |
6 | g.51748139_51748145del | CA2679078633 | PKHD1 | c.9476_9482del (p.Leu3159Ter) c.9347_9353del (p.Leu3116Ter) c.9338_9344del (p.Leu3113Ter) c.8834_8840del (p.Leu2945Ter) c.8765_8771del (p.Leu2922Ter) c.3551_3557del (p.Leu1184Ter) c.9401_9407del (p.Leu3134Ter) c.9281_9287del (p.Leu3094Ter) c.9212_9218del (p.Leu3071Ter) c.7616_7622del (p.Leu2539Ter) n.9752_9758del | gnomAD v4 |
6 | g.51748135C>A | CA364420967 | PKHD1 | c.9481G>T (p.Val3161Leu) c.9352G>T (p.Val3118Leu) c.9343G>T (p.Val3115Leu) c.8839G>T (p.Val2947Leu) c.8770G>T (p.Val2924Leu) c.3556G>T (p.Val1186Leu) c.9406G>T (p.Val3136Leu) c.9286G>T (p.Val3096Leu) c.9217G>T (p.Val3073Leu) c.7621G>T (p.Val2541Leu) n.9757G>T | |
6 | g.51748135C>G | CA364420968 | PKHD1 | c.9481G>C (p.Val3161Leu) c.9352G>C (p.Val3118Leu) c.9343G>C (p.Val3115Leu) c.8839G>C (p.Val2947Leu) c.8770G>C (p.Val2924Leu) c.3556G>C (p.Val1186Leu) c.9406G>C (p.Val3136Leu) c.9286G>C (p.Val3096Leu) c.9217G>C (p.Val3073Leu) c.7621G>C (p.Val2541Leu) n.9757G>C | |
6 | g.51748135C>T | CA364420969 | PKHD1 | c.9481G>A (p.Val3161Ile) c.9352G>A (p.Val3118Ile) c.9343G>A (p.Val3115Ile) c.8839G>A (p.Val2947Ile) c.8770G>A (p.Val2924Ile) c.3556G>A (p.Val1186Ile) c.9406G>A (p.Val3136Ile) c.9286G>A (p.Val3096Ile) c.9217G>A (p.Val3073Ile) c.7621G>A (p.Val2541Ile) n.9757G>A | |
6 | g.51748136A>C | CA364420970 | PKHD1 | c.9480T>G (p.His3160Gln) c.9351T>G (p.His3117Gln) c.9342T>G (p.His3114Gln) c.8838T>G (p.His2946Gln) c.8769T>G (p.His2923Gln) c.3555T>G (p.His1185Gln) c.9405T>G (p.His3135Gln) c.9285T>G (p.His3095Gln) c.9216T>G (p.His3072Gln) c.7620T>G (p.His2540Gln) n.9756T>G | gnomAD v4 |
6 | g.51748136A>G | CA450613491 | PKHD1 | c.9480T>C (p.His3160=) c.9351T>C (p.His3117=) c.9342T>C (p.His3114=) c.8838T>C (p.His2946=) c.8769T>C (p.His2923=) c.3555T>C (p.His1185=) c.9405T>C (p.His3135=) c.9285T>C (p.His3095=) c.9216T>C (p.His3072=) c.7620T>C (p.His2540=) n.9756T>C | COSMIC COSMIC |
6 | g.51748136A>T | CA364420971 | PKHD1 | c.9480T>A (p.His3160Gln) c.9351T>A (p.His3117Gln) c.9342T>A (p.His3114Gln) c.8838T>A (p.His2946Gln) c.8769T>A (p.His2923Gln) c.3555T>A (p.His1185Gln) c.9405T>A (p.His3135Gln) c.9285T>A (p.His3095Gln) c.9216T>A (p.His3072Gln) c.7620T>A (p.His2540Gln) n.9756T>A | |
6 | g.51748137T>A | CA3851384 | PKHD1 | c.9479A>T (p.His3160Leu) c.9350A>T (p.His3117Leu) c.9341A>T (p.His3114Leu) c.8837A>T (p.His2946Leu) c.8768A>T (p.His2923Leu) c.3554A>T (p.His1185Leu) c.9404A>T (p.His3135Leu) c.9284A>T (p.His3095Leu) c.9215A>T (p.His3072Leu) c.7619A>T (p.His2540Leu) n.9755A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748137T>C | CA138896168 | PKHD1 | c.9479A>G (p.His3160Arg) c.9350A>G (p.His3117Arg) c.9341A>G (p.His3114Arg) c.8837A>G (p.His2946Arg) c.8768A>G (p.His2923Arg) c.3554A>G (p.His1185Arg) c.9404A>G (p.His3135Arg) c.9284A>G (p.His3095Arg) c.9215A>G (p.His3072Arg) c.7619A>G (p.His2540Arg) n.9755A>G | dbSNP |
6 | g.51748137T>G | CA364420972 | PKHD1 | c.9479A>C (p.His3160Pro) c.9350A>C (p.His3117Pro) c.9341A>C (p.His3114Pro) c.8837A>C (p.His2946Pro) c.8768A>C (p.His2923Pro) c.3554A>C (p.His1185Pro) c.9404A>C (p.His3135Pro) c.9284A>C (p.His3095Pro) c.9215A>C (p.His3072Pro) c.7619A>C (p.His2540Pro) n.9755A>C | |
6 | g.51748137T= | CA1628502593 | PKHD1 | c.9479A= (p.His3160=) c.9350A= (p.His3117=) c.9341A= (p.His3114=) c.8837A= (p.His2946=) c.8768A= (p.His2923=) c.3554A= (p.His1185=) c.9404A= (p.His3135=) c.9284A= (p.His3095=) c.9215A= (p.His3072=) c.7619A= (p.His2540=) n.9755A= | |
6 | g.51748138G>A | CA3851385 | PKHD1 | c.9478C>T (p.His3160Tyr) c.9349C>T (p.His3117Tyr) c.9340C>T (p.His3114Tyr) c.8836C>T (p.His2946Tyr) c.8767C>T (p.His2923Tyr) c.3553C>T (p.His1185Tyr) c.9403C>T (p.His3135Tyr) c.9283C>T (p.His3095Tyr) c.9214C>T (p.His3072Tyr) c.7618C>T (p.His2540Tyr) n.9754C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748138G>C | CA364420973 | PKHD1 | c.9478C>G (p.His3160Asp) c.9349C>G (p.His3117Asp) c.9340C>G (p.His3114Asp) c.8836C>G (p.His2946Asp) c.8767C>G (p.His2923Asp) c.3553C>G (p.His1185Asp) c.9403C>G (p.His3135Asp) c.9283C>G (p.His3095Asp) c.9214C>G (p.His3072Asp) c.7618C>G (p.His2540Asp) n.9754C>G | |
6 | g.51748138G= | CA1628502600 | PKHD1 | c.9478C= (p.His3160=) c.9349C= (p.His3117=) c.9340C= (p.His3114=) c.8836C= (p.His2946=) c.8767C= (p.His2923=) c.3553C= (p.His1185=) c.9403C= (p.His3135=) c.9283C= (p.His3095=) c.9214C= (p.His3072=) c.7618C= (p.His2540=) n.9754C= | |
6 | g.51748138G>T | CA364420974 | PKHD1 | c.9478C>A (p.His3160Asn) c.9349C>A (p.His3117Asn) c.9340C>A (p.His3114Asn) c.8836C>A (p.His2946Asn) c.8767C>A (p.His2923Asn) c.3553C>A (p.His1185Asn) c.9403C>A (p.His3135Asn) c.9283C>A (p.His3095Asn) c.9214C>A (p.His3072Asn) c.7618C>A (p.His2540Asn) n.9754C>A | |
6 | g.51748139T>A | CA364420975 | PKHD1 | c.9477A>T (p.Leu3159Phe) c.9348A>T (p.Leu3116Phe) c.9339A>T (p.Leu3113Phe) c.8835A>T (p.Leu2945Phe) c.8766A>T (p.Leu2922Phe) c.3552A>T (p.Leu1184Phe) c.9402A>T (p.Leu3134Phe) c.9282A>T (p.Leu3094Phe) c.9213A>T (p.Leu3071Phe) c.7617A>T (p.Leu2539Phe) n.9753A>T | |
6 | g.51748139T>C | CA450613496 | PKHD1 | c.9477A>G (p.Leu3159=) c.9348A>G (p.Leu3116=) c.9339A>G (p.Leu3113=) c.8835A>G (p.Leu2945=) c.8766A>G (p.Leu2922=) c.3552A>G (p.Leu1184=) c.9402A>G (p.Leu3134=) c.9282A>G (p.Leu3094=) c.9213A>G (p.Leu3071=) c.7617A>G (p.Leu2539=) n.9753A>G | dbSNP |
6 | g.51748139T>G | CA364420976 | PKHD1 | c.9477A>C (p.Leu3159Phe) c.9348A>C (p.Leu3116Phe) c.9339A>C (p.Leu3113Phe) c.8835A>C (p.Leu2945Phe) c.8766A>C (p.Leu2922Phe) c.3552A>C (p.Leu1184Phe) c.9402A>C (p.Leu3134Phe) c.9282A>C (p.Leu3094Phe) c.9213A>C (p.Leu3071Phe) c.7617A>C (p.Leu2539Phe) n.9753A>C | |
6 | g.51748140A>C | CA364420978 | PKHD1 | c.9476T>G (p.Leu3159Ter) c.9347T>G (p.Leu3116Ter) c.9338T>G (p.Leu3113Ter) c.8834T>G (p.Leu2945Ter) c.8765T>G (p.Leu2922Ter) c.3551T>G (p.Leu1184Ter) c.9401T>G (p.Leu3134Ter) c.9281T>G (p.Leu3094Ter) c.9212T>G (p.Leu3071Ter) c.7616T>G (p.Leu2539Ter) n.9752T>G | |
6 | g.51748140A>G | CA364420979 | PKHD1 | c.9476T>C (p.Leu3159Ser) c.9347T>C (p.Leu3116Ser) c.9338T>C (p.Leu3113Ser) c.8834T>C (p.Leu2945Ser) c.8765T>C (p.Leu2922Ser) c.3551T>C (p.Leu1184Ser) c.9401T>C (p.Leu3134Ser) c.9281T>C (p.Leu3094Ser) c.9212T>C (p.Leu3071Ser) c.7616T>C (p.Leu2539Ser) n.9752T>C | |
6 | g.51748140A>T | CA364420977 | PKHD1 | c.9476T>A (p.Leu3159Ter) c.9347T>A (p.Leu3116Ter) c.9338T>A (p.Leu3113Ter) c.8834T>A (p.Leu2945Ter) c.8765T>A (p.Leu2922Ter) c.3551T>A (p.Leu1184Ter) c.9401T>A (p.Leu3134Ter) c.9281T>A (p.Leu3094Ter) c.9212T>A (p.Leu3071Ter) c.7616T>A (p.Leu2539Ter) n.9752T>A | |
6 | g.51748141A>C | CA364420981 | PKHD1 | c.9475T>G (p.Leu3159Val) c.9346T>G (p.Leu3116Val) c.9337T>G (p.Leu3113Val) c.8833T>G (p.Leu2945Val) c.8764T>G (p.Leu2922Val) c.3550T>G (p.Leu1184Val) c.9400T>G (p.Leu3134Val) c.9280T>G (p.Leu3094Val) c.9211T>G (p.Leu3071Val) c.7615T>G (p.Leu2539Val) n.9751T>G | |
6 | g.51748141A>G | CA450613503 | PKHD1 | c.9475T>C (p.Leu3159=) c.9346T>C (p.Leu3116=) c.9337T>C (p.Leu3113=) c.8833T>C (p.Leu2945=) c.8764T>C (p.Leu2922=) c.3550T>C (p.Leu1184=) c.9400T>C (p.Leu3134=) c.9280T>C (p.Leu3094=) c.9211T>C (p.Leu3071=) c.7615T>C (p.Leu2539=) n.9751T>C | |
6 | g.51748141A>T | CA364420980 | PKHD1 | c.9475T>A (p.Leu3159Ile) c.9346T>A (p.Leu3116Ile) c.9337T>A (p.Leu3113Ile) c.8833T>A (p.Leu2945Ile) c.8764T>A (p.Leu2922Ile) c.3550T>A (p.Leu1184Ile) c.9400T>A (p.Leu3134Ile) c.9280T>A (p.Leu3094Ile) c.9211T>A (p.Leu3071Ile) c.7615T>A (p.Leu2539Ile) n.9751T>A | |
6 | g.51748142C>A | CA364420982 | PKHD1 | c.9474G>T (p.Met3158Ile) c.9345G>T (p.Met3115Ile) c.9336G>T (p.Met3112Ile) c.8832G>T (p.Met2944Ile) c.8763G>T (p.Met2921Ile) c.3549G>T (p.Met1183Ile) c.9399G>T (p.Met3133Ile) c.9279G>T (p.Met3093Ile) c.9210G>T (p.Met3070Ile) c.7614G>T (p.Met2538Ile) n.9750G>T | |
6 | g.51748142C= | CA1628502606 | PKHD1 | c.9474G= (p.Met3158=) c.9345G= (p.Met3115=) c.9336G= (p.Met3112=) c.8832G= (p.Met2944=) c.8763G= (p.Met2921=) c.3549G= (p.Met1183=) c.9399G= (p.Met3133=) c.9279G= (p.Met3093=) c.9210G= (p.Met3070=) c.7614G= (p.Met2538=) n.9750G= | |
6 | g.51748142C>G | CA364420983 | PKHD1 | c.9474G>C (p.Met3158Ile) c.9345G>C (p.Met3115Ile) c.9336G>C (p.Met3112Ile) c.8832G>C (p.Met2944Ile) c.8763G>C (p.Met2921Ile) c.3549G>C (p.Met1183Ile) c.9399G>C (p.Met3133Ile) c.9279G>C (p.Met3093Ile) c.9210G>C (p.Met3070Ile) c.7614G>C (p.Met2538Ile) n.9750G>C | |
6 | g.51748142C>T | CA364420984 | PKHD1 | c.9474G>A (p.Met3158Ile) c.9345G>A (p.Met3115Ile) c.9336G>A (p.Met3112Ile) c.8832G>A (p.Met2944Ile) c.8763G>A (p.Met2921Ile) c.3549G>A (p.Met1183Ile) c.9399G>A (p.Met3133Ile) c.9279G>A (p.Met3093Ile) c.9210G>A (p.Met3070Ile) c.7614G>A (p.Met2538Ile) n.9750G>A | |
6 | g.51748143A>C | CA364420985 | PKHD1 | c.9473T>G (p.Met3158Arg) c.9344T>G (p.Met3115Arg) c.9335T>G (p.Met3112Arg) c.8831T>G (p.Met2944Arg) c.8762T>G (p.Met2921Arg) c.3548T>G (p.Met1183Arg) c.9398T>G (p.Met3133Arg) c.9278T>G (p.Met3093Arg) c.9209T>G (p.Met3070Arg) c.7613T>G (p.Met2538Arg) n.9749T>G | |
6 | g.51748143A>G | CA364420986 | PKHD1 | c.9473T>C (p.Met3158Thr) c.9344T>C (p.Met3115Thr) c.9335T>C (p.Met3112Thr) c.8831T>C (p.Met2944Thr) c.8762T>C (p.Met2921Thr) c.3548T>C (p.Met1183Thr) c.9398T>C (p.Met3133Thr) c.9278T>C (p.Met3093Thr) c.9209T>C (p.Met3070Thr) c.7613T>C (p.Met2538Thr) n.9749T>C | ClinVar |
6 | g.51748143A>T | CA364420987 | PKHD1 | c.9473T>A (p.Met3158Lys) c.9344T>A (p.Met3115Lys) c.9335T>A (p.Met3112Lys) c.8831T>A (p.Met2944Lys) c.8762T>A (p.Met2921Lys) c.3548T>A (p.Met1183Lys) c.9398T>A (p.Met3133Lys) c.9278T>A (p.Met3093Lys) c.9209T>A (p.Met3070Lys) c.7613T>A (p.Met2538Lys) n.9749T>A | |
6 | g.51748143_51748144delinsAT | CA1628502620 | PKHD1 | c.9472_9473delinsAT (p.Met3158=) c.9343_9344delinsAT (p.Met3115=) c.9334_9335delinsAT (p.Met3112=) c.8830_8831delinsAT (p.Met2944=) c.8761_8762delinsAT (p.Met2921=) c.3547_3548delinsAT (p.Met1183=) c.9397_9398delinsAT (p.Met3133=) c.9277_9278delinsAT (p.Met3093=) c.9208_9209delinsAT (p.Met3070=) c.7612_7613delinsAT (p.Met2538=) n.9748_9749delinsAT | |
6 | g.51748143_51748146dup | CA16041033 | PKHD1 | c.9470_9473dup (p.Met3158IlefsTer?) c.9341_9344dup (p.Met3115IlefsTer?) c.9332_9335dup (p.Met3112IlefsTer?) c.8828_8831dup (p.Met2944IlefsTer?) c.8759_8762dup (p.Met2921IlefsTer?) c.3545_3548dup (p.Met1183IlefsTer?) c.9395_9398dup (p.Met3133IlefsTer?) c.9275_9278dup (p.Met3093IlefsTer?) c.9206_9209dup (p.Met3070IlefsTer?) c.7610_7613dup (p.Met2538IlefsTer?) n.9746_9749dup | ClinVar dbSNP gnomAD v4 |
6 | g.51748144del | CA825699169 | PKHD1 | c.9472del (p.Met3158CysfsTer4) c.9343del (p.Met3115CysfsTer4) c.9334del (p.Met3112CysfsTer4) c.8830del (p.Met2944CysfsTer4) c.8761del (p.Met2921CysfsTer4) c.3547del (p.Met1183CysfsTer4) c.9397del (p.Met3133CysfsTer4) c.9277del (p.Met3093CysfsTer4) c.9208del (p.Met3070CysfsTer4) c.7612del (p.Met2538CysfsTer4) n.9748del | dbSNP |
6 | g.51748144T>A | CA364420988 | PKHD1 | c.9472A>T (p.Met3158Leu) c.9343A>T (p.Met3115Leu) c.9334A>T (p.Met3112Leu) c.8830A>T (p.Met2944Leu) c.8761A>T (p.Met2921Leu) c.3547A>T (p.Met1183Leu) c.9397A>T (p.Met3133Leu) c.9277A>T (p.Met3093Leu) c.9208A>T (p.Met3070Leu) c.7612A>T (p.Met2538Leu) n.9748A>T | |
6 | g.51748144T>C | CA3851386 | PKHD1 | c.9472A>G (p.Met3158Val) c.9343A>G (p.Met3115Val) c.9334A>G (p.Met3112Val) c.8830A>G (p.Met2944Val) c.8761A>G (p.Met2921Val) c.3547A>G (p.Met1183Val) c.9397A>G (p.Met3133Val) c.9277A>G (p.Met3093Val) c.9208A>G (p.Met3070Val) c.7612A>G (p.Met2538Val) n.9748A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748144T>G | CA364420989 | PKHD1 | c.9472A>C (p.Met3158Leu) c.9343A>C (p.Met3115Leu) c.9334A>C (p.Met3112Leu) c.8830A>C (p.Met2944Leu) c.8761A>C (p.Met2921Leu) c.3547A>C (p.Met1183Leu) c.9397A>C (p.Met3133Leu) c.9277A>C (p.Met3093Leu) c.9208A>C (p.Met3070Leu) c.7612A>C (p.Met2538Leu) n.9748A>C | |
6 | g.51748144T= | CA1628502627 | PKHD1 | c.9472A= (p.Met3158=) c.9343A= (p.Met3115=) c.9334A= (p.Met3112=) c.8830A= (p.Met2944=) c.8761A= (p.Met2921=) c.3547A= (p.Met1183=) c.9397A= (p.Met3133=) c.9277A= (p.Met3093=) c.9208A= (p.Met3070=) c.7612A= (p.Met2538=) n.9748A= | |
6 | g.51748145G>A | CA450613511 | PKHD1 | c.9471C>T (p.Ala3157=) c.9342C>T (p.Ala3114=) c.9333C>T (p.Ala3111=) c.8829C>T (p.Ala2943=) c.8760C>T (p.Ala2920=) c.3546C>T (p.Ala1182=) c.9396C>T (p.Ala3132=) c.9276C>T (p.Ala3092=) c.9207C>T (p.Ala3069=) c.7611C>T (p.Ala2537=) n.9747C>T | |
6 | g.51748145G>C | CA450613512 | PKHD1 | c.9471C>G (p.Ala3157=) c.9342C>G (p.Ala3114=) c.9333C>G (p.Ala3111=) c.8829C>G (p.Ala2943=) c.8760C>G (p.Ala2920=) c.3546C>G (p.Ala1182=) c.9396C>G (p.Ala3132=) c.9276C>G (p.Ala3092=) c.9207C>G (p.Ala3069=) c.7611C>G (p.Ala2537=) n.9747C>G | |
6 | g.51748145G>T | CA450613514 | PKHD1 | c.9471C>A (p.Ala3157=) c.9342C>A (p.Ala3114=) c.9333C>A (p.Ala3111=) c.8829C>A (p.Ala2943=) c.8760C>A (p.Ala2920=) c.3546C>A (p.Ala1182=) c.9396C>A (p.Ala3132=) c.9276C>A (p.Ala3092=) c.9207C>A (p.Ala3069=) c.7611C>A (p.Ala2537=) n.9747C>A | |
6 | g.51748146del | CA2679078634 | PKHD1 | c.9471del (p.Met3158CysfsTer4) c.9342del (p.Met3115CysfsTer4) c.9333del (p.Met3112CysfsTer4) c.8829del (p.Met2944CysfsTer4) c.8760del (p.Met2921CysfsTer4) c.3546del (p.Met1183CysfsTer4) c.9396del (p.Met3133CysfsTer4) c.9276del (p.Met3093CysfsTer4) c.9207del (p.Met3070CysfsTer4) c.7611del (p.Met2538CysfsTer4) n.9747del | gnomAD v4 |
6 | g.51748146G>A | CA364420990 | PKHD1 | c.9470C>T (p.Ala3157Val) c.9341C>T (p.Ala3114Val) c.9332C>T (p.Ala3111Val) c.8828C>T (p.Ala2943Val) c.8759C>T (p.Ala2920Val) c.3545C>T (p.Ala1182Val) c.9395C>T (p.Ala3132Val) c.9275C>T (p.Ala3092Val) c.9206C>T (p.Ala3069Val) c.7610C>T (p.Ala2537Val) n.9746C>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748146G>C | CA364420991 | PKHD1 | c.9470C>G (p.Ala3157Gly) c.9341C>G (p.Ala3114Gly) c.9332C>G (p.Ala3111Gly) c.8828C>G (p.Ala2943Gly) c.8759C>G (p.Ala2920Gly) c.3545C>G (p.Ala1182Gly) c.9395C>G (p.Ala3132Gly) c.9275C>G (p.Ala3092Gly) c.9206C>G (p.Ala3069Gly) c.7610C>G (p.Ala2537Gly) n.9746C>G | |
6 | g.51748146G= | CA1628502636 | PKHD1 | c.9470C= (p.Ala3157=) c.9341C= (p.Ala3114=) c.9332C= (p.Ala3111=) c.8828C= (p.Ala2943=) c.8759C= (p.Ala2920=) c.3545C= (p.Ala1182=) c.9395C= (p.Ala3132=) c.9275C= (p.Ala3092=) c.9206C= (p.Ala3069=) c.7610C= (p.Ala2537=) n.9746C= | |
6 | g.51748146G>T | CA364420992 | PKHD1 | c.9470C>A (p.Ala3157Asp) c.9341C>A (p.Ala3114Asp) c.9332C>A (p.Ala3111Asp) c.8828C>A (p.Ala2943Asp) c.8759C>A (p.Ala2920Asp) c.3545C>A (p.Ala1182Asp) c.9395C>A (p.Ala3132Asp) c.9275C>A (p.Ala3092Asp) c.9206C>A (p.Ala3069Asp) c.7610C>A (p.Ala2537Asp) n.9746C>A | |
6 | g.51748146_51748147delinsGC | CA1628502635 | PKHD1 | c.9469_9470delinsGC (p.Ala3157=) c.9340_9341delinsGC (p.Ala3114=) c.9331_9332delinsGC (p.Ala3111=) c.8827_8828delinsGC (p.Ala2943=) c.8758_8759delinsGC (p.Ala2920=) c.3544_3545delinsGC (p.Ala1182=) c.9394_9395delinsGC (p.Ala3132=) c.9274_9275delinsGC (p.Ala3092=) c.9205_9206delinsGC (p.Ala3069=) c.7609_7610delinsGC (p.Ala2537=) n.9745_9746delinsGC | |
6 | g.51748146_51748147delinsTT | CA10582453 | PKHD1 | c.9469_9470delinsAA (p.Ala3157Asn) c.9340_9341delinsAA (p.Ala3114Asn) c.9331_9332delinsAA (p.Ala3111Asn) c.8827_8828delinsAA (p.Ala2943Asn) c.8758_8759delinsAA (p.Ala2920Asn) c.3544_3545delinsAA (p.Ala1182Asn) c.9394_9395delinsAA (p.Ala3132Asn) c.9274_9275delinsAA (p.Ala3092Asn) c.9205_9206delinsAA (p.Ala3069Asn) c.7609_7610delinsAA (p.Ala2537Asn) n.9745_9746delinsAA | ClinVar dbSNP |
6 | g.51748147C>A | CA364420993 | PKHD1 | c.9469G>T (p.Ala3157Ser) c.9340G>T (p.Ala3114Ser) c.9331G>T (p.Ala3111Ser) c.8827G>T (p.Ala2943Ser) c.8758G>T (p.Ala2920Ser) c.3544G>T (p.Ala1182Ser) c.9394G>T (p.Ala3132Ser) c.9274G>T (p.Ala3092Ser) c.9205G>T (p.Ala3069Ser) c.7609G>T (p.Ala2537Ser) n.9745G>T | |
6 | g.51748147C>G | CA364420995 | PKHD1 | c.9469G>C (p.Ala3157Pro) c.9340G>C (p.Ala3114Pro) c.9331G>C (p.Ala3111Pro) c.8827G>C (p.Ala2943Pro) c.8758G>C (p.Ala2920Pro) c.3544G>C (p.Ala1182Pro) c.9394G>C (p.Ala3132Pro) c.9274G>C (p.Ala3092Pro) c.9205G>C (p.Ala3069Pro) c.7609G>C (p.Ala2537Pro) n.9745G>C | |
6 | g.51748147C>T | CA364420994 | PKHD1 | c.9469G>A (p.Ala3157Thr) c.9340G>A (p.Ala3114Thr) c.9331G>A (p.Ala3111Thr) c.8827G>A (p.Ala2943Thr) c.8758G>A (p.Ala2920Thr) c.3544G>A (p.Ala1182Thr) c.9394G>A (p.Ala3132Thr) c.9274G>A (p.Ala3092Thr) c.9205G>A (p.Ala3069Thr) c.7609G>A (p.Ala2537Thr) n.9745G>A | gnomAD v4 |
6 | g.51748148A= | CA1628502642 | PKHD1 | c.9468T= (p.Gly3156=) c.9339T= (p.Gly3113=) c.9330T= (p.Gly3110=) c.8826T= (p.Gly2942=) c.8757T= (p.Gly2919=) c.3543T= (p.Gly1181=) c.9393T= (p.Gly3131=) c.9273T= (p.Gly3091=) c.9204T= (p.Gly3068=) c.7608T= (p.Gly2536=) n.9744T= | |
6 | g.51748148A>C | CA450613521 | PKHD1 | c.9468T>G (p.Gly3156=) c.9339T>G (p.Gly3113=) c.9330T>G (p.Gly3110=) c.8826T>G (p.Gly2942=) c.8757T>G (p.Gly2919=) c.3543T>G (p.Gly1181=) c.9393T>G (p.Gly3131=) c.9273T>G (p.Gly3091=) c.9204T>G (p.Gly3068=) c.7608T>G (p.Gly2536=) n.9744T>G | gnomAD v4 |
6 | g.51748148A>G | CA3851387 | PKHD1 | c.9468T>C (p.Gly3156=) c.9339T>C (p.Gly3113=) c.9330T>C (p.Gly3110=) c.8826T>C (p.Gly2942=) c.8757T>C (p.Gly2919=) c.3543T>C (p.Gly1181=) c.9393T>C (p.Gly3131=) c.9273T>C (p.Gly3091=) c.9204T>C (p.Gly3068=) c.7608T>C (p.Gly2536=) n.9744T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748148A>T | CA450613522 | PKHD1 | c.9468T>A (p.Gly3156=) c.9339T>A (p.Gly3113=) c.9330T>A (p.Gly3110=) c.8826T>A (p.Gly2942=) c.8757T>A (p.Gly2919=) c.3543T>A (p.Gly1181=) c.9393T>A (p.Gly3131=) c.9273T>A (p.Gly3091=) c.9204T>A (p.Gly3068=) c.7608T>A (p.Gly2536=) n.9744T>A | |
6 | g.51748149C>A | CA364420996 | PKHD1 | c.9467G>T (p.Gly3156Val) c.9338G>T (p.Gly3113Val) c.9329G>T (p.Gly3110Val) c.8825G>T (p.Gly2942Val) c.8756G>T (p.Gly2919Val) c.3542G>T (p.Gly1181Val) c.9392G>T (p.Gly3131Val) c.9272G>T (p.Gly3091Val) c.9203G>T (p.Gly3068Val) c.7607G>T (p.Gly2536Val) n.9743G>T | |
6 | g.51748149C= | CA1628502648 | PKHD1 | c.9467G= (p.Gly3156=) c.9338G= (p.Gly3113=) c.9329G= (p.Gly3110=) c.8825G= (p.Gly2942=) c.8756G= (p.Gly2919=) c.3542G= (p.Gly1181=) c.9392G= (p.Gly3131=) c.9272G= (p.Gly3091=) c.9203G= (p.Gly3068=) c.7607G= (p.Gly2536=) n.9743G= | |
6 | g.51748149C>G | CA364420997 | PKHD1 | c.9467G>C (p.Gly3156Ala) c.9338G>C (p.Gly3113Ala) c.9329G>C (p.Gly3110Ala) c.8825G>C (p.Gly2942Ala) c.8756G>C (p.Gly2919Ala) c.3542G>C (p.Gly1181Ala) c.9392G>C (p.Gly3131Ala) c.9272G>C (p.Gly3091Ala) c.9203G>C (p.Gly3068Ala) c.7607G>C (p.Gly2536Ala) n.9743G>C | |
6 | g.51748149C>T | CA364420998 | PKHD1 | c.9467G>A (p.Gly3156Asp) c.9338G>A (p.Gly3113Asp) c.9329G>A (p.Gly3110Asp) c.8825G>A (p.Gly2942Asp) c.8756G>A (p.Gly2919Asp) c.3542G>A (p.Gly1181Asp) c.9392G>A (p.Gly3131Asp) c.9272G>A (p.Gly3091Asp) c.9203G>A (p.Gly3068Asp) c.7607G>A (p.Gly2536Asp) n.9743G>A | dbSNP gnomAD v2 |
6 | g.51748150C>A | CA364420999 | PKHD1 | c.9466G>T (p.Gly3156Cys) c.9337G>T (p.Gly3113Cys) c.9328G>T (p.Gly3110Cys) c.8824G>T (p.Gly2942Cys) c.8755G>T (p.Gly2919Cys) c.3541G>T (p.Gly1181Cys) c.9391G>T (p.Gly3131Cys) c.9271G>T (p.Gly3091Cys) c.9202G>T (p.Gly3068Cys) c.7606G>T (p.Gly2536Cys) n.9742G>T | |
6 | g.51748150C>G | CA364421000 | PKHD1 | c.9466G>C (p.Gly3156Arg) c.9337G>C (p.Gly3113Arg) c.9328G>C (p.Gly3110Arg) c.8824G>C (p.Gly2942Arg) c.8755G>C (p.Gly2919Arg) c.3541G>C (p.Gly1181Arg) c.9391G>C (p.Gly3131Arg) c.9271G>C (p.Gly3091Arg) c.9202G>C (p.Gly3068Arg) c.7606G>C (p.Gly2536Arg) n.9742G>C | |
6 | g.51748150C>T | CA364421001 | PKHD1 | c.9466G>A (p.Gly3156Ser) c.9337G>A (p.Gly3113Ser) c.9328G>A (p.Gly3110Ser) c.8824G>A (p.Gly2942Ser) c.8755G>A (p.Gly2919Ser) c.3541G>A (p.Gly1181Ser) c.9391G>A (p.Gly3131Ser) c.9271G>A (p.Gly3091Ser) c.9202G>A (p.Gly3068Ser) c.7606G>A (p.Gly2536Ser) n.9742G>A | |
6 | g.51748151A= | CA1628502657 | PKHD1 | c.9465T= (p.Tyr3155=) c.9336T= (p.Tyr3112=) c.9327T= (p.Tyr3109=) c.8823T= (p.Tyr2941=) c.8754T= (p.Tyr2918=) c.3540T= (p.Tyr1180=) c.9390T= (p.Tyr3130=) c.9270T= (p.Tyr3090=) c.9201T= (p.Tyr3067=) c.7605T= (p.Tyr2535=) n.9741T= | |
6 | g.51748151A>C | CA364421002 | PKHD1 | c.9465T>G (p.Tyr3155Ter) c.9336T>G (p.Tyr3112Ter) c.9327T>G (p.Tyr3109Ter) c.8823T>G (p.Tyr2941Ter) c.8754T>G (p.Tyr2918Ter) c.3540T>G (p.Tyr1180Ter) c.9390T>G (p.Tyr3130Ter) c.9270T>G (p.Tyr3090Ter) c.9201T>G (p.Tyr3067Ter) c.7605T>G (p.Tyr2535Ter) n.9741T>G | |
6 | g.51748151A>G | CA450613531 | PKHD1 | c.9465T>C (p.Tyr3155=) c.9336T>C (p.Tyr3112=) c.9327T>C (p.Tyr3109=) c.8823T>C (p.Tyr2941=) c.8754T>C (p.Tyr2918=) c.3540T>C (p.Tyr1180=) c.9390T>C (p.Tyr3130=) c.9270T>C (p.Tyr3090=) c.9201T>C (p.Tyr3067=) c.7605T>C (p.Tyr2535=) n.9741T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748151A>T | CA364421003 | PKHD1 | c.9465T>A (p.Tyr3155Ter) c.9336T>A (p.Tyr3112Ter) c.9327T>A (p.Tyr3109Ter) c.8823T>A (p.Tyr2941Ter) c.8754T>A (p.Tyr2918Ter) c.3540T>A (p.Tyr1180Ter) c.9390T>A (p.Tyr3130Ter) c.9270T>A (p.Tyr3090Ter) c.9201T>A (p.Tyr3067Ter) c.7605T>A (p.Tyr2535Ter) n.9741T>A | |
6 | g.51748152T>A | CA364421004 | PKHD1 | c.9464A>T (p.Tyr3155Phe) c.9335A>T (p.Tyr3112Phe) c.9326A>T (p.Tyr3109Phe) c.8822A>T (p.Tyr2941Phe) c.8753A>T (p.Tyr2918Phe) c.3539A>T (p.Tyr1180Phe) c.9389A>T (p.Tyr3130Phe) c.9269A>T (p.Tyr3090Phe) c.9200A>T (p.Tyr3067Phe) c.7604A>T (p.Tyr2535Phe) n.9740A>T | |
6 | g.51748152T>C | CA138896240 | PKHD1 | c.9464A>G (p.Tyr3155Cys) c.9335A>G (p.Tyr3112Cys) c.9326A>G (p.Tyr3109Cys) c.8822A>G (p.Tyr2941Cys) c.8753A>G (p.Tyr2918Cys) c.3539A>G (p.Tyr1180Cys) c.9389A>G (p.Tyr3130Cys) c.9269A>G (p.Tyr3090Cys) c.9200A>G (p.Tyr3067Cys) c.7604A>G (p.Tyr2535Cys) n.9740A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.51748152T>G | CA364421005 | PKHD1 | c.9464A>C (p.Tyr3155Ser) c.9335A>C (p.Tyr3112Ser) c.9326A>C (p.Tyr3109Ser) c.8822A>C (p.Tyr2941Ser) c.8753A>C (p.Tyr2918Ser) c.3539A>C (p.Tyr1180Ser) c.9389A>C (p.Tyr3130Ser) c.9269A>C (p.Tyr3090Ser) c.9200A>C (p.Tyr3067Ser) c.7604A>C (p.Tyr2535Ser) n.9740A>C | |
6 | g.51748152T= | CA1628502662 | PKHD1 | c.9464A= (p.Tyr3155=) c.9335A= (p.Tyr3112=) c.9326A= (p.Tyr3109=) c.8822A= (p.Tyr2941=) c.8753A= (p.Tyr2918=) c.3539A= (p.Tyr1180=) c.9389A= (p.Tyr3130=) c.9269A= (p.Tyr3090=) c.9200A= (p.Tyr3067=) c.7604A= (p.Tyr2535=) n.9740A= | |
6 | g.51748153A>C | CA364421006 | PKHD1 | c.9463T>G (p.Tyr3155Asp) c.9334T>G (p.Tyr3112Asp) c.9325T>G (p.Tyr3109Asp) c.8821T>G (p.Tyr2941Asp) c.8752T>G (p.Tyr2918Asp) c.3538T>G (p.Tyr1180Asp) c.9388T>G (p.Tyr3130Asp) c.9268T>G (p.Tyr3090Asp) c.9199T>G (p.Tyr3067Asp) c.7603T>G (p.Tyr2535Asp) n.9739T>G | |
6 | g.51748153A>G | CA364421008 | PKHD1 | c.9463T>C (p.Tyr3155His) c.9334T>C (p.Tyr3112His) c.9325T>C (p.Tyr3109His) c.8821T>C (p.Tyr2941His) c.8752T>C (p.Tyr2918His) c.3538T>C (p.Tyr1180His) c.9388T>C (p.Tyr3130His) c.9268T>C (p.Tyr3090His) c.9199T>C (p.Tyr3067His) c.7603T>C (p.Tyr2535His) n.9739T>C | |
6 | g.51748153A>T | CA364421007 | PKHD1 | c.9463T>A (p.Tyr3155Asn) c.9334T>A (p.Tyr3112Asn) c.9325T>A (p.Tyr3109Asn) c.8821T>A (p.Tyr2941Asn) c.8752T>A (p.Tyr2918Asn) c.3538T>A (p.Tyr1180Asn) c.9388T>A (p.Tyr3130Asn) c.9268T>A (p.Tyr3090Asn) c.9199T>A (p.Tyr3067Asn) c.7603T>A (p.Tyr2535Asn) n.9739T>A | |
6 | g.51748154G>A | CA450613542 | PKHD1 | c.9462C>T (p.Asp3154=) c.9333C>T (p.Asp3111=) c.9324C>T (p.Asp3108=) c.8820C>T (p.Asp2940=) c.8751C>T (p.Asp2917=) c.3537C>T (p.Asp1179=) c.9387C>T (p.Asp3129=) c.9267C>T (p.Asp3089=) c.9198C>T (p.Asp3066=) c.7602C>T (p.Asp2534=) n.9738C>T | ClinVar dbSNP gnomAD v4 |
6 | g.51748154G>C | CA364421009 | PKHD1 | c.9462C>G (p.Asp3154Glu) c.9333C>G (p.Asp3111Glu) c.9324C>G (p.Asp3108Glu) c.8820C>G (p.Asp2940Glu) c.8751C>G (p.Asp2917Glu) c.3537C>G (p.Asp1179Glu) c.9387C>G (p.Asp3129Glu) c.9267C>G (p.Asp3089Glu) c.9198C>G (p.Asp3066Glu) c.7602C>G (p.Asp2534Glu) n.9738C>G | |
6 | g.51748154G= | CA1628502668 | PKHD1 | c.9462C= (p.Asp3154=) c.9333C= (p.Asp3111=) c.9324C= (p.Asp3108=) c.8820C= (p.Asp2940=) c.8751C= (p.Asp2917=) c.3537C= (p.Asp1179=) c.9387C= (p.Asp3129=) c.9267C= (p.Asp3089=) c.9198C= (p.Asp3066=) c.7602C= (p.Asp2534=) n.9738C= | |
6 | g.51748154G>T | CA364421010 | PKHD1 | c.9462C>A (p.Asp3154Glu) c.9333C>A (p.Asp3111Glu) c.9324C>A (p.Asp3108Glu) c.8820C>A (p.Asp2940Glu) c.8751C>A (p.Asp2917Glu) c.3537C>A (p.Asp1179Glu) c.9387C>A (p.Asp3129Glu) c.9267C>A (p.Asp3089Glu) c.9198C>A (p.Asp3066Glu) c.7602C>A (p.Asp2534Glu) n.9738C>A | |
6 | g.51748155T>A | CA364421011 | PKHD1 | c.9461A>T (p.Asp3154Val) c.9332A>T (p.Asp3111Val) c.9323A>T (p.Asp3108Val) c.8819A>T (p.Asp2940Val) c.8750A>T (p.Asp2917Val) c.3536A>T (p.Asp1179Val) c.9386A>T (p.Asp3129Val) c.9266A>T (p.Asp3089Val) c.9197A>T (p.Asp3066Val) c.7601A>T (p.Asp2534Val) n.9737A>T | |
6 | g.51748155T>C | CA364421012 | PKHD1 | c.9461A>G (p.Asp3154Gly) c.9332A>G (p.Asp3111Gly) c.9323A>G (p.Asp3108Gly) c.8819A>G (p.Asp2940Gly) c.8750A>G (p.Asp2917Gly) c.3536A>G (p.Asp1179Gly) c.9386A>G (p.Asp3129Gly) c.9266A>G (p.Asp3089Gly) c.9197A>G (p.Asp3066Gly) c.7601A>G (p.Asp2534Gly) n.9737A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748155T>G | CA364421013 | PKHD1 | c.9461A>C (p.Asp3154Ala) c.9332A>C (p.Asp3111Ala) c.9323A>C (p.Asp3108Ala) c.8819A>C (p.Asp2940Ala) c.8750A>C (p.Asp2917Ala) c.3536A>C (p.Asp1179Ala) c.9386A>C (p.Asp3129Ala) c.9266A>C (p.Asp3089Ala) c.9197A>C (p.Asp3066Ala) c.7601A>C (p.Asp2534Ala) n.9737A>C | |
6 | g.51748155T= | CA1628502673 | PKHD1 | c.9461A= (p.Asp3154=) c.9332A= (p.Asp3111=) c.9323A= (p.Asp3108=) c.8819A= (p.Asp2940=) c.8750A= (p.Asp2917=) c.3536A= (p.Asp1179=) c.9386A= (p.Asp3129=) c.9266A= (p.Asp3089=) c.9197A= (p.Asp3066=) c.7601A= (p.Asp2534=) n.9737A= | |
6 | g.51748156C>A | CA364421014 | PKHD1 | c.9460G>T (p.Asp3154Tyr) c.9331G>T (p.Asp3111Tyr) c.9322G>T (p.Asp3108Tyr) c.8818G>T (p.Asp2940Tyr) c.8749G>T (p.Asp2917Tyr) c.3535G>T (p.Asp1179Tyr) c.9385G>T (p.Asp3129Tyr) c.9265G>T (p.Asp3089Tyr) c.9196G>T (p.Asp3066Tyr) c.7600G>T (p.Asp2534Tyr) n.9736G>T | |
6 | g.51748156C>G | CA364421015 | PKHD1 | c.9460G>C (p.Asp3154His) c.9331G>C (p.Asp3111His) c.9322G>C (p.Asp3108His) c.8818G>C (p.Asp2940His) c.8749G>C (p.Asp2917His) c.3535G>C (p.Asp1179His) c.9385G>C (p.Asp3129His) c.9265G>C (p.Asp3089His) c.9196G>C (p.Asp3066His) c.7600G>C (p.Asp2534His) n.9736G>C | |
6 | g.51748156C>T | CA364421016 | PKHD1 | c.9460G>A (p.Asp3154Asn) c.9331G>A (p.Asp3111Asn) c.9322G>A (p.Asp3108Asn) c.8818G>A (p.Asp2940Asn) c.8749G>A (p.Asp2917Asn) c.3535G>A (p.Asp1179Asn) c.9385G>A (p.Asp3129Asn) c.9265G>A (p.Asp3089Asn) c.9196G>A (p.Asp3066Asn) c.7600G>A (p.Asp2534Asn) n.9736G>A | ClinVar dbSNP |
6 | g.51748157A>C | CA364421017 | PKHD1 | c.9459T>G (p.Phe3153Leu) c.9330T>G (p.Phe3110Leu) c.9321T>G (p.Phe3107Leu) c.8817T>G (p.Phe2939Leu) c.8748T>G (p.Phe2916Leu) c.3534T>G (p.Phe1178Leu) c.9384T>G (p.Phe3128Leu) c.9264T>G (p.Phe3088Leu) c.9195T>G (p.Phe3065Leu) c.7599T>G (p.Phe2533Leu) n.9735T>G | COSMIC COSMIC |
6 | g.51748157A>G | CA450613548 | PKHD1 | c.9459T>C (p.Phe3153=) c.9330T>C (p.Phe3110=) c.9321T>C (p.Phe3107=) c.8817T>C (p.Phe2939=) c.8748T>C (p.Phe2916=) c.3534T>C (p.Phe1178=) c.9384T>C (p.Phe3128=) c.9264T>C (p.Phe3088=) c.9195T>C (p.Phe3065=) c.7599T>C (p.Phe2533=) n.9735T>C | |
6 | g.51748157A>T | CA364421018 | PKHD1 | c.9459T>A (p.Phe3153Leu) c.9330T>A (p.Phe3110Leu) c.9321T>A (p.Phe3107Leu) c.8817T>A (p.Phe2939Leu) c.8748T>A (p.Phe2916Leu) c.3534T>A (p.Phe1178Leu) c.9384T>A (p.Phe3128Leu) c.9264T>A (p.Phe3088Leu) c.9195T>A (p.Phe3065Leu) c.7599T>A (p.Phe2533Leu) n.9735T>A | |
6 | g.51748158A>C | CA364421019 | PKHD1 | c.9458T>G (p.Phe3153Cys) c.9329T>G (p.Phe3110Cys) c.9320T>G (p.Phe3107Cys) c.8816T>G (p.Phe2939Cys) c.8747T>G (p.Phe2916Cys) c.3533T>G (p.Phe1178Cys) c.9383T>G (p.Phe3128Cys) c.9263T>G (p.Phe3088Cys) c.9194T>G (p.Phe3065Cys) c.7598T>G (p.Phe2533Cys) n.9734T>G | |
6 | g.51748158A>G | CA364421020 | PKHD1 | c.9458T>C (p.Phe3153Ser) c.9329T>C (p.Phe3110Ser) c.9320T>C (p.Phe3107Ser) c.8816T>C (p.Phe2939Ser) c.8747T>C (p.Phe2916Ser) c.3533T>C (p.Phe1178Ser) c.9383T>C (p.Phe3128Ser) c.9263T>C (p.Phe3088Ser) c.9194T>C (p.Phe3065Ser) c.7598T>C (p.Phe2533Ser) n.9734T>C | |
6 | g.51748158A>T | CA364421021 | PKHD1 | c.9458T>A (p.Phe3153Tyr) c.9329T>A (p.Phe3110Tyr) c.9320T>A (p.Phe3107Tyr) c.8816T>A (p.Phe2939Tyr) c.8747T>A (p.Phe2916Tyr) c.3533T>A (p.Phe1178Tyr) c.9383T>A (p.Phe3128Tyr) c.9263T>A (p.Phe3088Tyr) c.9194T>A (p.Phe3065Tyr) c.7598T>A (p.Phe2533Tyr) n.9734T>A | |
6 | g.51748159A>C | CA364421022 | PKHD1 | c.9457T>G (p.Phe3153Val) c.9328T>G (p.Phe3110Val) c.9319T>G (p.Phe3107Val) c.8815T>G (p.Phe2939Val) c.8746T>G (p.Phe2916Val) c.3532T>G (p.Phe1178Val) c.9382T>G (p.Phe3128Val) c.9262T>G (p.Phe3088Val) c.9193T>G (p.Phe3065Val) c.7597T>G (p.Phe2533Val) n.9733T>G | |
6 | g.51748159A>G | CA364421024 | PKHD1 | c.9457T>C (p.Phe3153Leu) c.9328T>C (p.Phe3110Leu) c.9319T>C (p.Phe3107Leu) c.8815T>C (p.Phe2939Leu) c.8746T>C (p.Phe2916Leu) c.3532T>C (p.Phe1178Leu) c.9382T>C (p.Phe3128Leu) c.9262T>C (p.Phe3088Leu) c.9193T>C (p.Phe3065Leu) c.7597T>C (p.Phe2533Leu) n.9733T>C | COSMIC COSMIC |
6 | g.51748159A>T | CA364421023 | PKHD1 | c.9457T>A (p.Phe3153Ile) c.9328T>A (p.Phe3110Ile) c.9319T>A (p.Phe3107Ile) c.8815T>A (p.Phe2939Ile) c.8746T>A (p.Phe2916Ile) c.3532T>A (p.Phe1178Ile) c.9382T>A (p.Phe3128Ile) c.9262T>A (p.Phe3088Ile) c.9193T>A (p.Phe3065Ile) c.7597T>A (p.Phe2533Ile) n.9733T>A | |
6 | g.51748160G>A | CA450613551 | PKHD1 | c.9456C>T (p.Asn3152=) c.9327C>T (p.Asn3109=) c.9318C>T (p.Asn3106=) c.8814C>T (p.Asn2938=) c.8745C>T (p.Asn2915=) c.3531C>T (p.Asn1177=) c.9381C>T (p.Asn3127=) c.9261C>T (p.Asn3087=) c.9192C>T (p.Asn3064=) c.7596C>T (p.Asn2532=) n.9732C>T | |
6 | g.51748160G>C | CA364421025 | PKHD1 | c.9456C>G (p.Asn3152Lys) c.9327C>G (p.Asn3109Lys) c.9318C>G (p.Asn3106Lys) c.8814C>G (p.Asn2938Lys) c.8745C>G (p.Asn2915Lys) c.3531C>G (p.Asn1177Lys) c.9381C>G (p.Asn3127Lys) c.9261C>G (p.Asn3087Lys) c.9192C>G (p.Asn3064Lys) c.7596C>G (p.Asn2532Lys) n.9732C>G | |
6 | g.51748160G>T | CA364421026 | PKHD1 | c.9456C>A (p.Asn3152Lys) c.9327C>A (p.Asn3109Lys) c.9318C>A (p.Asn3106Lys) c.8814C>A (p.Asn2938Lys) c.8745C>A (p.Asn2915Lys) c.3531C>A (p.Asn1177Lys) c.9381C>A (p.Asn3127Lys) c.9261C>A (p.Asn3087Lys) c.9192C>A (p.Asn3064Lys) c.7596C>A (p.Asn2532Lys) n.9732C>A | |
6 | g.51748161T>A | CA364421027 | PKHD1 | c.9455A>T (p.Asn3152Ile) c.9326A>T (p.Asn3109Ile) c.9317A>T (p.Asn3106Ile) c.8813A>T (p.Asn2938Ile) c.8744A>T (p.Asn2915Ile) c.3530A>T (p.Asn1177Ile) c.9380A>T (p.Asn3127Ile) c.9260A>T (p.Asn3087Ile) c.9191A>T (p.Asn3064Ile) c.7595A>T (p.Asn2532Ile) n.9731A>T | |
6 | g.51748161T>C | CA364421028 | PKHD1 | c.9455A>G (p.Asn3152Ser) c.9326A>G (p.Asn3109Ser) c.9317A>G (p.Asn3106Ser) c.8813A>G (p.Asn2938Ser) c.8744A>G (p.Asn2915Ser) c.3530A>G (p.Asn1177Ser) c.9380A>G (p.Asn3127Ser) c.9260A>G (p.Asn3087Ser) c.9191A>G (p.Asn3064Ser) c.7595A>G (p.Asn2532Ser) n.9731A>G | |
6 | g.51748161T>G | CA364421029 | PKHD1 | c.9455A>C (p.Asn3152Thr) c.9326A>C (p.Asn3109Thr) c.9317A>C (p.Asn3106Thr) c.8813A>C (p.Asn2938Thr) c.8744A>C (p.Asn2915Thr) c.3530A>C (p.Asn1177Thr) c.9380A>C (p.Asn3127Thr) c.9260A>C (p.Asn3087Thr) c.9191A>C (p.Asn3064Thr) c.7595A>C (p.Asn2532Thr) n.9731A>C | |
6 | g.51748162del | CA2695198858 | PKHD1 | c.9455del (p.Asn3152ThrfsTer10) c.9326del (p.Asn3109ThrfsTer10) c.9317del (p.Asn3106ThrfsTer10) c.8813del (p.Asn2938ThrfsTer10) c.8744del (p.Asn2915ThrfsTer10) c.3530del (p.Asn1177ThrfsTer10) c.9380del (p.Asn3127ThrfsTer10) c.9260del (p.Asn3087ThrfsTer10) c.9191del (p.Asn3064ThrfsTer10) c.7595del (p.Asn2532ThrfsTer10) n.9731del | ClinVar |
6 | g.51748162T>A | CA364421030 | PKHD1 | c.9454A>T (p.Asn3152Tyr) c.9325A>T (p.Asn3109Tyr) c.9316A>T (p.Asn3106Tyr) c.8812A>T (p.Asn2938Tyr) c.8743A>T (p.Asn2915Tyr) c.3529A>T (p.Asn1177Tyr) c.9379A>T (p.Asn3127Tyr) c.9259A>T (p.Asn3087Tyr) c.9190A>T (p.Asn3064Tyr) c.7594A>T (p.Asn2532Tyr) n.9730A>T | |
6 | g.51748162T>C | CA364421031 | PKHD1 | c.9454A>G (p.Asn3152Asp) c.9325A>G (p.Asn3109Asp) c.9316A>G (p.Asn3106Asp) c.8812A>G (p.Asn2938Asp) c.8743A>G (p.Asn2915Asp) c.3529A>G (p.Asn1177Asp) c.9379A>G (p.Asn3127Asp) c.9259A>G (p.Asn3087Asp) c.9190A>G (p.Asn3064Asp) c.7594A>G (p.Asn2532Asp) n.9730A>G | |
6 | g.51748162T>G | CA364421032 | PKHD1 | c.9454A>C (p.Asn3152His) c.9325A>C (p.Asn3109His) c.9316A>C (p.Asn3106His) c.8812A>C (p.Asn2938His) c.8743A>C (p.Asn2915His) c.3529A>C (p.Asn1177His) c.9379A>C (p.Asn3127His) c.9259A>C (p.Asn3087His) c.9190A>C (p.Asn3064His) c.7594A>C (p.Asn2532His) n.9730A>C | |
6 | g.51748163C>A | CA364421033 | PKHD1 | c.9453G>T (p.Lys3151Asn) c.9324G>T (p.Lys3108Asn) c.9315G>T (p.Lys3105Asn) c.8811G>T (p.Lys2937Asn) c.8742G>T (p.Lys2914Asn) c.3528G>T (p.Lys1176Asn) c.9378G>T (p.Lys3126Asn) c.9258G>T (p.Lys3086Asn) c.9189G>T (p.Lys3063Asn) c.7593G>T (p.Lys2531Asn) n.9729G>T | |
6 | g.51748163C>G | CA364421034 | PKHD1 | c.9453G>C (p.Lys3151Asn) c.9324G>C (p.Lys3108Asn) c.9315G>C (p.Lys3105Asn) c.8811G>C (p.Lys2937Asn) c.8742G>C (p.Lys2914Asn) c.3528G>C (p.Lys1176Asn) c.9378G>C (p.Lys3126Asn) c.9258G>C (p.Lys3086Asn) c.9189G>C (p.Lys3063Asn) c.7593G>C (p.Lys2531Asn) n.9729G>C | |
6 | g.51748163C>T | CA450613559 | PKHD1 | c.9453G>A (p.Lys3151=) c.9324G>A (p.Lys3108=) c.9315G>A (p.Lys3105=) c.8811G>A (p.Lys2937=) c.8742G>A (p.Lys2914=) c.3528G>A (p.Lys1176=) c.9378G>A (p.Lys3126=) c.9258G>A (p.Lys3086=) c.9189G>A (p.Lys3063=) c.7593G>A (p.Lys2531=) n.9729G>A | |
6 | g.51748164T>A | CA364421036 | PKHD1 | c.9452A>T (p.Lys3151Met) c.9323A>T (p.Lys3108Met) c.9314A>T (p.Lys3105Met) c.8810A>T (p.Lys2937Met) c.8741A>T (p.Lys2914Met) c.3527A>T (p.Lys1176Met) c.9377A>T (p.Lys3126Met) c.9257A>T (p.Lys3086Met) c.9188A>T (p.Lys3063Met) c.7592A>T (p.Lys2531Met) n.9728A>T | |
6 | g.51748164T>C | CA3851388 | PKHD1 | c.9452A>G (p.Lys3151Arg) c.9323A>G (p.Lys3108Arg) c.9314A>G (p.Lys3105Arg) c.8810A>G (p.Lys2937Arg) c.8741A>G (p.Lys2914Arg) c.3527A>G (p.Lys1176Arg) c.9377A>G (p.Lys3126Arg) c.9257A>G (p.Lys3086Arg) c.9188A>G (p.Lys3063Arg) c.7592A>G (p.Lys2531Arg) n.9728A>G | dbSNP ExAC gnomAD v2 |
6 | g.51748164T>G | CA364421035 | PKHD1 | c.9452A>C (p.Lys3151Thr) c.9323A>C (p.Lys3108Thr) c.9314A>C (p.Lys3105Thr) c.8810A>C (p.Lys2937Thr) c.8741A>C (p.Lys2914Thr) c.3527A>C (p.Lys1176Thr) c.9377A>C (p.Lys3126Thr) c.9257A>C (p.Lys3086Thr) c.9188A>C (p.Lys3063Thr) c.7592A>C (p.Lys2531Thr) n.9728A>C | |
6 | g.51748164T= | CA1628502677 | PKHD1 | c.9452A= (p.Lys3151=) c.9323A= (p.Lys3108=) c.9314A= (p.Lys3105=) c.8810A= (p.Lys2937=) c.8741A= (p.Lys2914=) c.3527A= (p.Lys1176=) c.9377A= (p.Lys3126=) c.9257A= (p.Lys3086=) c.9188A= (p.Lys3063=) c.7592A= (p.Lys2531=) n.9728A= | |
6 | g.51748165T>A | CA364421037 | PKHD1 | c.9451A>T (p.Lys3151Ter) c.9322A>T (p.Lys3108Ter) c.9313A>T (p.Lys3105Ter) c.8809A>T (p.Lys2937Ter) c.8740A>T (p.Lys2914Ter) c.3526A>T (p.Lys1176Ter) c.9376A>T (p.Lys3126Ter) c.9256A>T (p.Lys3086Ter) c.9187A>T (p.Lys3063Ter) c.7591A>T (p.Lys2531Ter) n.9727A>T | |
6 | g.51748165T>C | CA364421038 | PKHD1 | c.9451A>G (p.Lys3151Glu) c.9322A>G (p.Lys3108Glu) c.9313A>G (p.Lys3105Glu) c.8809A>G (p.Lys2937Glu) c.8740A>G (p.Lys2914Glu) c.3526A>G (p.Lys1176Glu) c.9376A>G (p.Lys3126Glu) c.9256A>G (p.Lys3086Glu) c.9187A>G (p.Lys3063Glu) c.7591A>G (p.Lys2531Glu) n.9727A>G | |
6 | g.51748165T>G | CA364421039 | PKHD1 | c.9451A>C (p.Lys3151Gln) c.9322A>C (p.Lys3108Gln) c.9313A>C (p.Lys3105Gln) c.8809A>C (p.Lys2937Gln) c.8740A>C (p.Lys2914Gln) c.3526A>C (p.Lys1176Gln) c.9376A>C (p.Lys3126Gln) c.9256A>C (p.Lys3086Gln) c.9187A>C (p.Lys3063Gln) c.7591A>C (p.Lys2531Gln) n.9727A>C | |
6 | g.51748166G>A | CA450613561 | PKHD1 | c.9450C>T (p.Phe3150=) c.9321C>T (p.Phe3107=) c.9312C>T (p.Phe3104=) c.8808C>T (p.Phe2936=) c.8739C>T (p.Phe2913=) c.3525C>T (p.Phe1175=) c.9375C>T (p.Phe3125=) c.9255C>T (p.Phe3085=) c.9186C>T (p.Phe3062=) c.7590C>T (p.Phe2530=) n.9726C>T | |
6 | g.51748166G>C | CA364421040 | PKHD1 | c.9450C>G (p.Phe3150Leu) c.9321C>G (p.Phe3107Leu) c.9312C>G (p.Phe3104Leu) c.8808C>G (p.Phe2936Leu) c.8739C>G (p.Phe2913Leu) c.3525C>G (p.Phe1175Leu) c.9375C>G (p.Phe3125Leu) c.9255C>G (p.Phe3085Leu) c.9186C>G (p.Phe3062Leu) c.7590C>G (p.Phe2530Leu) n.9726C>G | |
6 | g.51748166G>T | CA364421041 | PKHD1 | c.9450C>A (p.Phe3150Leu) c.9321C>A (p.Phe3107Leu) c.9312C>A (p.Phe3104Leu) c.8808C>A (p.Phe2936Leu) c.8739C>A (p.Phe2913Leu) c.3525C>A (p.Phe1175Leu) c.9375C>A (p.Phe3125Leu) c.9255C>A (p.Phe3085Leu) c.9186C>A (p.Phe3062Leu) c.7590C>A (p.Phe2530Leu) n.9726C>A | |
6 | g.51748167A>C | CA364421042 | PKHD1 | c.9449T>G (p.Phe3150Cys) c.9320T>G (p.Phe3107Cys) c.9311T>G (p.Phe3104Cys) c.8807T>G (p.Phe2936Cys) c.8738T>G (p.Phe2913Cys) c.3524T>G (p.Phe1175Cys) c.9374T>G (p.Phe3125Cys) c.9254T>G (p.Phe3085Cys) c.9185T>G (p.Phe3062Cys) c.7589T>G (p.Phe2530Cys) n.9725T>G | |
6 | g.51748167A>G | CA364421043 | PKHD1 | c.9449T>C (p.Phe3150Ser) c.9320T>C (p.Phe3107Ser) c.9311T>C (p.Phe3104Ser) c.8807T>C (p.Phe2936Ser) c.8738T>C (p.Phe2913Ser) c.3524T>C (p.Phe1175Ser) c.9374T>C (p.Phe3125Ser) c.9254T>C (p.Phe3085Ser) c.9185T>C (p.Phe3062Ser) c.7589T>C (p.Phe2530Ser) n.9725T>C | |
6 | g.51748167A>T | CA364421044 | PKHD1 | c.9449T>A (p.Phe3150Tyr) c.9320T>A (p.Phe3107Tyr) c.9311T>A (p.Phe3104Tyr) c.8807T>A (p.Phe2936Tyr) c.8738T>A (p.Phe2913Tyr) c.3524T>A (p.Phe1175Tyr) c.9374T>A (p.Phe3125Tyr) c.9254T>A (p.Phe3085Tyr) c.9185T>A (p.Phe3062Tyr) c.7589T>A (p.Phe2530Tyr) n.9725T>A | |
6 | g.51748168A>C | CA364421045 | PKHD1 | c.9448T>G (p.Phe3150Val) c.9319T>G (p.Phe3107Val) c.9310T>G (p.Phe3104Val) c.8806T>G (p.Phe2936Val) c.8737T>G (p.Phe2913Val) c.3523T>G (p.Phe1175Val) c.9373T>G (p.Phe3125Val) c.9253T>G (p.Phe3085Val) c.9184T>G (p.Phe3062Val) c.7588T>G (p.Phe2530Val) n.9724T>G | |
6 | g.51748168A>G | CA364421047 | PKHD1 | c.9448T>C (p.Phe3150Leu) c.9319T>C (p.Phe3107Leu) c.9310T>C (p.Phe3104Leu) c.8806T>C (p.Phe2936Leu) c.8737T>C (p.Phe2913Leu) c.3523T>C (p.Phe1175Leu) c.9373T>C (p.Phe3125Leu) c.9253T>C (p.Phe3085Leu) c.9184T>C (p.Phe3062Leu) c.7588T>C (p.Phe2530Leu) n.9724T>C | ClinVar dbSNP |
6 | g.51748168A>T | CA364421046 | PKHD1 | c.9448T>A (p.Phe3150Ile) c.9319T>A (p.Phe3107Ile) c.9310T>A (p.Phe3104Ile) c.8806T>A (p.Phe2936Ile) c.8737T>A (p.Phe2913Ile) c.3523T>A (p.Phe1175Ile) c.9373T>A (p.Phe3125Ile) c.9253T>A (p.Phe3085Ile) c.9184T>A (p.Phe3062Ile) c.7588T>A (p.Phe2530Ile) n.9724T>A | |
6 | g.51748169A= | CA1628502683 | PKHD1 | c.9447T= (p.Ala3149=) c.9318T= (p.Ala3106=) c.9309T= (p.Ala3103=) c.8805T= (p.Ala2935=) c.8736T= (p.Ala2912=) c.3522T= (p.Ala1174=) c.9372T= (p.Ala3124=) c.9252T= (p.Ala3084=) c.9183T= (p.Ala3061=) c.7587T= (p.Ala2529=) n.9723T= | |
6 | g.51748169A>C | CA450613566 | PKHD1 | c.9447T>G (p.Ala3149=) c.9318T>G (p.Ala3106=) c.9309T>G (p.Ala3103=) c.8805T>G (p.Ala2935=) c.8736T>G (p.Ala2912=) c.3522T>G (p.Ala1174=) c.9372T>G (p.Ala3124=) c.9252T>G (p.Ala3084=) c.9183T>G (p.Ala3061=) c.7587T>G (p.Ala2529=) n.9723T>G | |
6 | g.51748169A>G | CA450613568 | PKHD1 | c.9447T>C (p.Ala3149=) c.9318T>C (p.Ala3106=) c.9309T>C (p.Ala3103=) c.8805T>C (p.Ala2935=) c.8736T>C (p.Ala2912=) c.3522T>C (p.Ala1174=) c.9372T>C (p.Ala3124=) c.9252T>C (p.Ala3084=) c.9183T>C (p.Ala3061=) c.7587T>C (p.Ala2529=) n.9723T>C | gnomAD v4 |
6 | g.51748169A>T | CA3851389 | PKHD1 | c.9447T>A (p.Ala3149=) c.9318T>A (p.Ala3106=) c.9309T>A (p.Ala3103=) c.8805T>A (p.Ala2935=) c.8736T>A (p.Ala2912=) c.3522T>A (p.Ala1174=) c.9372T>A (p.Ala3124=) c.9252T>A (p.Ala3084=) c.9183T>A (p.Ala3061=) c.7587T>A (p.Ala2529=) n.9723T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748170G>A | CA364421048 | PKHD1 | c.9446C>T (p.Ala3149Val) c.9317C>T (p.Ala3106Val) c.9308C>T (p.Ala3103Val) c.8804C>T (p.Ala2935Val) c.8735C>T (p.Ala2912Val) c.3521C>T (p.Ala1174Val) c.9371C>T (p.Ala3124Val) c.9251C>T (p.Ala3084Val) c.9182C>T (p.Ala3061Val) c.7586C>T (p.Ala2529Val) n.9722C>T | gnomAD v4 |
6 | g.51748170G>C | CA364421049 | PKHD1 | c.9446C>G (p.Ala3149Gly) c.9317C>G (p.Ala3106Gly) c.9308C>G (p.Ala3103Gly) c.8804C>G (p.Ala2935Gly) c.8735C>G (p.Ala2912Gly) c.3521C>G (p.Ala1174Gly) c.9371C>G (p.Ala3124Gly) c.9251C>G (p.Ala3084Gly) c.9182C>G (p.Ala3061Gly) c.7586C>G (p.Ala2529Gly) n.9722C>G | |
6 | g.51748170G>T | CA364421050 | PKHD1 | c.9446C>A (p.Ala3149Asp) c.9317C>A (p.Ala3106Asp) c.9308C>A (p.Ala3103Asp) c.8804C>A (p.Ala2935Asp) c.8735C>A (p.Ala2912Asp) c.3521C>A (p.Ala1174Asp) c.9371C>A (p.Ala3124Asp) c.9251C>A (p.Ala3084Asp) c.9182C>A (p.Ala3061Asp) c.7586C>A (p.Ala2529Asp) n.9722C>A | gnomAD v4 |