Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
6 | g.51748171C>A | CA364421051 | PKHD1 | c.9445G>T (p.Ala3149Ser) c.9316G>T (p.Ala3106Ser) c.9307G>T (p.Ala3103Ser) c.8803G>T (p.Ala2935Ser) c.8734G>T (p.Ala2912Ser) c.3520G>T (p.Ala1174Ser) c.9370G>T (p.Ala3124Ser) c.9250G>T (p.Ala3084Ser) c.9181G>T (p.Ala3061Ser) c.7585G>T (p.Ala2529Ser) n.9721G>T | |
6 | g.51748171C>G | CA364421053 | PKHD1 | c.9445G>C (p.Ala3149Pro) c.9316G>C (p.Ala3106Pro) c.9307G>C (p.Ala3103Pro) c.8803G>C (p.Ala2935Pro) c.8734G>C (p.Ala2912Pro) c.3520G>C (p.Ala1174Pro) c.9370G>C (p.Ala3124Pro) c.9250G>C (p.Ala3084Pro) c.9181G>C (p.Ala3061Pro) c.7585G>C (p.Ala2529Pro) n.9721G>C | |
6 | g.51748171C>T | CA364421052 | PKHD1 | c.9445G>A (p.Ala3149Thr) c.9316G>A (p.Ala3106Thr) c.9307G>A (p.Ala3103Thr) c.8803G>A (p.Ala2935Thr) c.8734G>A (p.Ala2912Thr) c.3520G>A (p.Ala1174Thr) c.9370G>A (p.Ala3124Thr) c.9250G>A (p.Ala3084Thr) c.9181G>A (p.Ala3061Thr) c.7585G>A (p.Ala2529Thr) n.9721G>A | |
6 | g.51748172C>A | CA364421054 | PKHD1 | c.9444G>T (p.Leu3148Phe) c.9315G>T (p.Leu3105Phe) c.9306G>T (p.Leu3102Phe) c.8802G>T (p.Leu2934Phe) c.8733G>T (p.Leu2911Phe) c.3519G>T (p.Leu1173Phe) c.9369G>T (p.Leu3123Phe) c.9249G>T (p.Leu3083Phe) c.9180G>T (p.Leu3060Phe) c.7584G>T (p.Leu2528Phe) n.9720G>T | |
6 | g.51748172C>G | CA364421055 | PKHD1 | c.9444G>C (p.Leu3148Phe) c.9315G>C (p.Leu3105Phe) c.9306G>C (p.Leu3102Phe) c.8802G>C (p.Leu2934Phe) c.8733G>C (p.Leu2911Phe) c.3519G>C (p.Leu1173Phe) c.9369G>C (p.Leu3123Phe) c.9249G>C (p.Leu3083Phe) c.9180G>C (p.Leu3060Phe) c.7584G>C (p.Leu2528Phe) n.9720G>C | |
6 | g.51748172C>T | CA450613703 | PKHD1 | c.9444G>A (p.Leu3148=) c.9315G>A (p.Leu3105=) c.9306G>A (p.Leu3102=) c.8802G>A (p.Leu2934=) c.8733G>A (p.Leu2911=) c.3519G>A (p.Leu1173=) c.9369G>A (p.Leu3123=) c.9249G>A (p.Leu3083=) c.9180G>A (p.Leu3060=) c.7584G>A (p.Leu2528=) n.9720G>A | |
6 | g.51748173A>C | CA364421056 | PKHD1 | c.9443T>G (p.Leu3148Trp) c.9314T>G (p.Leu3105Trp) c.9305T>G (p.Leu3102Trp) c.8801T>G (p.Leu2934Trp) c.8732T>G (p.Leu2911Trp) c.3518T>G (p.Leu1173Trp) c.9368T>G (p.Leu3123Trp) c.9248T>G (p.Leu3083Trp) c.9179T>G (p.Leu3060Trp) c.7583T>G (p.Leu2528Trp) n.9719T>G | |
6 | g.51748173A>G | CA364421057 | PKHD1 | c.9443T>C (p.Leu3148Ser) c.9314T>C (p.Leu3105Ser) c.9305T>C (p.Leu3102Ser) c.8801T>C (p.Leu2934Ser) c.8732T>C (p.Leu2911Ser) c.3518T>C (p.Leu1173Ser) c.9368T>C (p.Leu3123Ser) c.9248T>C (p.Leu3083Ser) c.9179T>C (p.Leu3060Ser) c.7583T>C (p.Leu2528Ser) n.9719T>C | |
6 | g.51748173A>T | CA364421058 | PKHD1 | c.9443T>A (p.Leu3148Ter) c.9314T>A (p.Leu3105Ter) c.9305T>A (p.Leu3102Ter) c.8801T>A (p.Leu2934Ter) c.8732T>A (p.Leu2911Ter) c.3518T>A (p.Leu1173Ter) c.9368T>A (p.Leu3123Ter) c.9248T>A (p.Leu3083Ter) c.9179T>A (p.Leu3060Ter) c.7583T>A (p.Leu2528Ter) n.9719T>A | |
6 | g.51748174A>C | CA364421059 | PKHD1 | c.9442T>G (p.Leu3148Val) c.9313T>G (p.Leu3105Val) c.9304T>G (p.Leu3102Val) c.8800T>G (p.Leu2934Val) c.8731T>G (p.Leu2911Val) c.3517T>G (p.Leu1173Val) c.9367T>G (p.Leu3123Val) c.9247T>G (p.Leu3083Val) c.9178T>G (p.Leu3060Val) c.7582T>G (p.Leu2528Val) n.9718T>G | |
6 | g.51748174A>G | CA450613706 | PKHD1 | c.9442T>C (p.Leu3148=) c.9313T>C (p.Leu3105=) c.9304T>C (p.Leu3102=) c.8800T>C (p.Leu2934=) c.8731T>C (p.Leu2911=) c.3517T>C (p.Leu1173=) c.9367T>C (p.Leu3123=) c.9247T>C (p.Leu3083=) c.9178T>C (p.Leu3060=) c.7582T>C (p.Leu2528=) n.9718T>C | |
6 | g.51748174A>T | CA364421060 | PKHD1 | c.9442T>A (p.Leu3148Met) c.9313T>A (p.Leu3105Met) c.9304T>A (p.Leu3102Met) c.8800T>A (p.Leu2934Met) c.8731T>A (p.Leu2911Met) c.3517T>A (p.Leu1173Met) c.9367T>A (p.Leu3123Met) c.9247T>A (p.Leu3083Met) c.9178T>A (p.Leu3060Met) c.7582T>A (p.Leu2528Met) n.9718T>A | |
6 | g.51748175G>A | CA450613708 | PKHD1 | c.9441C>T (p.Phe3147=) c.9312C>T (p.Phe3104=) c.9303C>T (p.Phe3101=) c.8799C>T (p.Phe2933=) c.8730C>T (p.Phe2910=) c.3516C>T (p.Phe1172=) c.9366C>T (p.Phe3122=) c.9246C>T (p.Phe3082=) c.9177C>T (p.Phe3059=) c.7581C>T (p.Phe2527=) n.9717C>T | |
6 | g.51748175G>C | CA364421061 | PKHD1 | c.9441C>G (p.Phe3147Leu) c.9312C>G (p.Phe3104Leu) c.9303C>G (p.Phe3101Leu) c.8799C>G (p.Phe2933Leu) c.8730C>G (p.Phe2910Leu) c.3516C>G (p.Phe1172Leu) c.9366C>G (p.Phe3122Leu) c.9246C>G (p.Phe3082Leu) c.9177C>G (p.Phe3059Leu) c.7581C>G (p.Phe2527Leu) n.9717C>G | dbSNP |
6 | g.51748175G= | CA1628502690 | PKHD1 | c.9441C= (p.Phe3147=) c.9312C= (p.Phe3104=) c.9303C= (p.Phe3101=) c.8799C= (p.Phe2933=) c.8730C= (p.Phe2910=) c.3516C= (p.Phe1172=) c.9366C= (p.Phe3122=) c.9246C= (p.Phe3082=) c.9177C= (p.Phe3059=) c.7581C= (p.Phe2527=) n.9717C= | |
6 | g.51748175G>T | CA364421062 | PKHD1 | c.9441C>A (p.Phe3147Leu) c.9312C>A (p.Phe3104Leu) c.9303C>A (p.Phe3101Leu) c.8799C>A (p.Phe2933Leu) c.8730C>A (p.Phe2910Leu) c.3516C>A (p.Phe1172Leu) c.9366C>A (p.Phe3122Leu) c.9246C>A (p.Phe3082Leu) c.9177C>A (p.Phe3059Leu) c.7581C>A (p.Phe2527Leu) n.9717C>A | |
6 | g.51748176A>C | CA364421063 | PKHD1 | c.9440T>G (p.Phe3147Cys) c.9311T>G (p.Phe3104Cys) c.9302T>G (p.Phe3101Cys) c.8798T>G (p.Phe2933Cys) c.8729T>G (p.Phe2910Cys) c.3515T>G (p.Phe1172Cys) c.9365T>G (p.Phe3122Cys) c.9245T>G (p.Phe3082Cys) c.9176T>G (p.Phe3059Cys) c.7580T>G (p.Phe2527Cys) n.9716T>G | |
6 | g.51748176A>G | CA364421064 | PKHD1 | c.9440T>C (p.Phe3147Ser) c.9311T>C (p.Phe3104Ser) c.9302T>C (p.Phe3101Ser) c.8798T>C (p.Phe2933Ser) c.8729T>C (p.Phe2910Ser) c.3515T>C (p.Phe1172Ser) c.9365T>C (p.Phe3122Ser) c.9245T>C (p.Phe3082Ser) c.9176T>C (p.Phe3059Ser) c.7580T>C (p.Phe2527Ser) n.9716T>C | |
6 | g.51748176A>T | CA364421065 | PKHD1 | c.9440T>A (p.Phe3147Tyr) c.9311T>A (p.Phe3104Tyr) c.9302T>A (p.Phe3101Tyr) c.8798T>A (p.Phe2933Tyr) c.8729T>A (p.Phe2910Tyr) c.3515T>A (p.Phe1172Tyr) c.9365T>A (p.Phe3122Tyr) c.9245T>A (p.Phe3082Tyr) c.9176T>A (p.Phe3059Tyr) c.7580T>A (p.Phe2527Tyr) n.9716T>A | |
6 | g.51748177A>C | CA364421066 | PKHD1 | c.9439T>G (p.Phe3147Val) c.9310T>G (p.Phe3104Val) c.9301T>G (p.Phe3101Val) c.8797T>G (p.Phe2933Val) c.8728T>G (p.Phe2910Val) c.3514T>G (p.Phe1172Val) c.9364T>G (p.Phe3122Val) c.9244T>G (p.Phe3082Val) c.9175T>G (p.Phe3059Val) c.7579T>G (p.Phe2527Val) n.9715T>G | |
6 | g.51748177A>G | CA364421068 | PKHD1 | c.9439T>C (p.Phe3147Leu) c.9310T>C (p.Phe3104Leu) c.9301T>C (p.Phe3101Leu) c.8797T>C (p.Phe2933Leu) c.8728T>C (p.Phe2910Leu) c.3514T>C (p.Phe1172Leu) c.9364T>C (p.Phe3122Leu) c.9244T>C (p.Phe3082Leu) c.9175T>C (p.Phe3059Leu) c.7579T>C (p.Phe2527Leu) n.9715T>C | |
6 | g.51748177A>T | CA364421067 | PKHD1 | c.9439T>A (p.Phe3147Ile) c.9310T>A (p.Phe3104Ile) c.9301T>A (p.Phe3101Ile) c.8797T>A (p.Phe2933Ile) c.8728T>A (p.Phe2910Ile) c.3514T>A (p.Phe1172Ile) c.9364T>A (p.Phe3122Ile) c.9244T>A (p.Phe3082Ile) c.9175T>A (p.Phe3059Ile) c.7579T>A (p.Phe2527Ile) n.9715T>A | |
6 | g.51748178G>A | CA450613713 | PKHD1 | c.9438C>T (p.Gly3146=) c.9309C>T (p.Gly3103=) c.9300C>T (p.Gly3100=) c.8796C>T (p.Gly2932=) c.8727C>T (p.Gly2909=) c.3513C>T (p.Gly1171=) c.9363C>T (p.Gly3121=) c.9243C>T (p.Gly3081=) c.9174C>T (p.Gly3058=) c.7578C>T (p.Gly2526=) n.9714C>T | |
6 | g.51748178G>C | CA450613715 | PKHD1 | c.9438C>G (p.Gly3146=) c.9309C>G (p.Gly3103=) c.9300C>G (p.Gly3100=) c.8796C>G (p.Gly2932=) c.8727C>G (p.Gly2909=) c.3513C>G (p.Gly1171=) c.9363C>G (p.Gly3121=) c.9243C>G (p.Gly3081=) c.9174C>G (p.Gly3058=) c.7578C>G (p.Gly2526=) n.9714C>G | |
6 | g.51748178G= | CA1628502693 | PKHD1 | c.9438C= (p.Gly3146=) c.9309C= (p.Gly3103=) c.9300C= (p.Gly3100=) c.8796C= (p.Gly2932=) c.8727C= (p.Gly2909=) c.3513C= (p.Gly1171=) c.9363C= (p.Gly3121=) c.9243C= (p.Gly3081=) c.9174C= (p.Gly3058=) c.7578C= (p.Gly2526=) n.9714C= | |
6 | g.51748178G>T | CA450613717 | PKHD1 | c.9438C>A (p.Gly3146=) c.9309C>A (p.Gly3103=) c.9300C>A (p.Gly3100=) c.8796C>A (p.Gly2932=) c.8727C>A (p.Gly2909=) c.3513C>A (p.Gly1171=) c.9363C>A (p.Gly3121=) c.9243C>A (p.Gly3081=) c.9174C>A (p.Gly3058=) c.7578C>A (p.Gly2526=) n.9714C>A | dbSNP gnomAD v4 |
6 | g.51748179C>A | CA364421069 | PKHD1 | c.9437G>T (p.Gly3146Val) c.9308G>T (p.Gly3103Val) c.9299G>T (p.Gly3100Val) c.8795G>T (p.Gly2932Val) c.8726G>T (p.Gly2909Val) c.3512G>T (p.Gly1171Val) c.9362G>T (p.Gly3121Val) c.9242G>T (p.Gly3081Val) c.9173G>T (p.Gly3058Val) c.7577G>T (p.Gly2526Val) n.9713G>T | |
6 | g.51748179C>G | CA364421070 | PKHD1 | c.9437G>C (p.Gly3146Ala) c.9308G>C (p.Gly3103Ala) c.9299G>C (p.Gly3100Ala) c.8795G>C (p.Gly2932Ala) c.8726G>C (p.Gly2909Ala) c.3512G>C (p.Gly1171Ala) c.9362G>C (p.Gly3121Ala) c.9242G>C (p.Gly3081Ala) c.9173G>C (p.Gly3058Ala) c.7577G>C (p.Gly2526Ala) n.9713G>C | |
6 | g.51748179C>T | CA364421071 | PKHD1 | c.9437G>A (p.Gly3146Asp) c.9308G>A (p.Gly3103Asp) c.9299G>A (p.Gly3100Asp) c.8795G>A (p.Gly2932Asp) c.8726G>A (p.Gly2909Asp) c.3512G>A (p.Gly1171Asp) c.9362G>A (p.Gly3121Asp) c.9242G>A (p.Gly3081Asp) c.9173G>A (p.Gly3058Asp) c.7577G>A (p.Gly2526Asp) n.9713G>A | |
6 | g.51748180C>A | CA364421072 | PKHD1 | c.9436G>T (p.Gly3146Cys) c.9307G>T (p.Gly3103Cys) c.9298G>T (p.Gly3100Cys) c.8794G>T (p.Gly2932Cys) c.8725G>T (p.Gly2909Cys) c.3511G>T (p.Gly1171Cys) c.9361G>T (p.Gly3121Cys) c.9241G>T (p.Gly3081Cys) c.9172G>T (p.Gly3058Cys) c.7576G>T (p.Gly2526Cys) n.9712G>T | |
6 | g.51748180C= | CA1628502698 | PKHD1 | c.9436G= (p.Gly3146=) c.9307G= (p.Gly3103=) c.9298G= (p.Gly3100=) c.8794G= (p.Gly2932=) c.8725G= (p.Gly2909=) c.3511G= (p.Gly1171=) c.9361G= (p.Gly3121=) c.9241G= (p.Gly3081=) c.9172G= (p.Gly3058=) c.7576G= (p.Gly2526=) n.9712G= | |
6 | g.51748180C>G | CA364421073 | PKHD1 | c.9436G>C (p.Gly3146Arg) c.9307G>C (p.Gly3103Arg) c.9298G>C (p.Gly3100Arg) c.8794G>C (p.Gly2932Arg) c.8725G>C (p.Gly2909Arg) c.3511G>C (p.Gly1171Arg) c.9361G>C (p.Gly3121Arg) c.9241G>C (p.Gly3081Arg) c.9172G>C (p.Gly3058Arg) c.7576G>C (p.Gly2526Arg) n.9712G>C | |
6 | g.51748180C>T | CA364421074 | PKHD1 | c.9436G>A (p.Gly3146Ser) c.9307G>A (p.Gly3103Ser) c.9298G>A (p.Gly3100Ser) c.8794G>A (p.Gly2932Ser) c.8725G>A (p.Gly2909Ser) c.3511G>A (p.Gly1171Ser) c.9361G>A (p.Gly3121Ser) c.9241G>A (p.Gly3081Ser) c.9172G>A (p.Gly3058Ser) c.7576G>A (p.Gly2526Ser) n.9712G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748181A>C | CA450613722 | PKHD1 | c.9435T>G (p.Ser3145=) c.9306T>G (p.Ser3102=) c.9297T>G (p.Ser3099=) c.8793T>G (p.Ser2931=) c.8724T>G (p.Ser2908=) c.3510T>G (p.Ser1170=) c.9360T>G (p.Ser3120=) c.9240T>G (p.Ser3080=) c.9171T>G (p.Ser3057=) c.7575T>G (p.Ser2525=) n.9711T>G | gnomAD v4 |
6 | g.51748181A>G | CA450613723 | PKHD1 | c.9435T>C (p.Ser3145=) c.9306T>C (p.Ser3102=) c.9297T>C (p.Ser3099=) c.8793T>C (p.Ser2931=) c.8724T>C (p.Ser2908=) c.3510T>C (p.Ser1170=) c.9360T>C (p.Ser3120=) c.9240T>C (p.Ser3080=) c.9171T>C (p.Ser3057=) c.7575T>C (p.Ser2525=) n.9711T>C | |
6 | g.51748181A>T | CA450613724 | PKHD1 | c.9435T>A (p.Ser3145=) c.9306T>A (p.Ser3102=) c.9297T>A (p.Ser3099=) c.8793T>A (p.Ser2931=) c.8724T>A (p.Ser2908=) c.3510T>A (p.Ser1170=) c.9360T>A (p.Ser3120=) c.9240T>A (p.Ser3080=) c.9171T>A (p.Ser3057=) c.7575T>A (p.Ser2525=) n.9711T>A | |
6 | g.51748182G>A | CA364421075 | PKHD1 | c.9434C>T (p.Ser3145Phe) c.9305C>T (p.Ser3102Phe) c.9296C>T (p.Ser3099Phe) c.8792C>T (p.Ser2931Phe) c.8723C>T (p.Ser2908Phe) c.3509C>T (p.Ser1170Phe) c.9359C>T (p.Ser3120Phe) c.9239C>T (p.Ser3080Phe) c.9170C>T (p.Ser3057Phe) c.7574C>T (p.Ser2525Phe) n.9710C>T | |
6 | g.51748182G>C | CA364421076 | PKHD1 | c.9434C>G (p.Ser3145Cys) c.9305C>G (p.Ser3102Cys) c.9296C>G (p.Ser3099Cys) c.8792C>G (p.Ser2931Cys) c.8723C>G (p.Ser2908Cys) c.3509C>G (p.Ser1170Cys) c.9359C>G (p.Ser3120Cys) c.9239C>G (p.Ser3080Cys) c.9170C>G (p.Ser3057Cys) c.7574C>G (p.Ser2525Cys) n.9710C>G | |
6 | g.51748182G>T | CA364421077 | PKHD1 | c.9434C>A (p.Ser3145Tyr) c.9305C>A (p.Ser3102Tyr) c.9296C>A (p.Ser3099Tyr) c.8792C>A (p.Ser2931Tyr) c.8723C>A (p.Ser2908Tyr) c.3509C>A (p.Ser1170Tyr) c.9359C>A (p.Ser3120Tyr) c.9239C>A (p.Ser3080Tyr) c.9170C>A (p.Ser3057Tyr) c.7574C>A (p.Ser2525Tyr) n.9710C>A | |
6 | g.51748183A= | CA1628502706 | PKHD1 | c.9433T= (p.Ser3145=) c.9304T= (p.Ser3102=) c.9295T= (p.Ser3099=) c.8791T= (p.Ser2931=) c.8722T= (p.Ser2908=) c.3508T= (p.Ser1170=) c.9358T= (p.Ser3120=) c.9238T= (p.Ser3080=) c.9169T= (p.Ser3057=) c.7573T= (p.Ser2525=) n.9709T= | |
6 | g.51748183A>C | CA364421078 | PKHD1 | c.9433T>G (p.Ser3145Ala) c.9304T>G (p.Ser3102Ala) c.9295T>G (p.Ser3099Ala) c.8791T>G (p.Ser2931Ala) c.8722T>G (p.Ser2908Ala) c.3508T>G (p.Ser1170Ala) c.9358T>G (p.Ser3120Ala) c.9238T>G (p.Ser3080Ala) c.9169T>G (p.Ser3057Ala) c.7573T>G (p.Ser2525Ala) n.9709T>G | |
6 | g.51748183A>G | CA138896243 | PKHD1 | c.9433T>C (p.Ser3145Pro) c.9304T>C (p.Ser3102Pro) c.9295T>C (p.Ser3099Pro) c.8791T>C (p.Ser2931Pro) c.8722T>C (p.Ser2908Pro) c.3508T>C (p.Ser1170Pro) c.9358T>C (p.Ser3120Pro) c.9238T>C (p.Ser3080Pro) c.9169T>C (p.Ser3057Pro) c.7573T>C (p.Ser2525Pro) n.9709T>C | dbSNP gnomAD v4 |
6 | g.51748183A>T | CA364421079 | PKHD1 | c.9433T>A (p.Ser3145Thr) c.9304T>A (p.Ser3102Thr) c.9295T>A (p.Ser3099Thr) c.8791T>A (p.Ser2931Thr) c.8722T>A (p.Ser2908Thr) c.3508T>A (p.Ser1170Thr) c.9358T>A (p.Ser3120Thr) c.9238T>A (p.Ser3080Thr) c.9169T>A (p.Ser3057Thr) c.7573T>A (p.Ser2525Thr) n.9709T>A | |
6 | g.51748184G>A | CA450613727 | PKHD1 | c.9432C>T (p.Ile3144=) c.9303C>T (p.Ile3101=) c.9294C>T (p.Ile3098=) c.8790C>T (p.Ile2930=) c.8721C>T (p.Ile2907=) c.3507C>T (p.Ile1169=) c.9357C>T (p.Ile3119=) c.9237C>T (p.Ile3079=) c.9168C>T (p.Ile3056=) c.7572C>T (p.Ile2524=) n.9708C>T | |
6 | g.51748184G>C | CA364421080 | PKHD1 | c.9432C>G (p.Ile3144Met) c.9303C>G (p.Ile3101Met) c.9294C>G (p.Ile3098Met) c.8790C>G (p.Ile2930Met) c.8721C>G (p.Ile2907Met) c.3507C>G (p.Ile1169Met) c.9357C>G (p.Ile3119Met) c.9237C>G (p.Ile3079Met) c.9168C>G (p.Ile3056Met) c.7572C>G (p.Ile2524Met) n.9708C>G | |
6 | g.51748184G= | CA1628502712 | PKHD1 | c.9432C= (p.Ile3144=) c.9303C= (p.Ile3101=) c.9294C= (p.Ile3098=) c.8790C= (p.Ile2930=) c.8721C= (p.Ile2907=) c.3507C= (p.Ile1169=) c.9357C= (p.Ile3119=) c.9237C= (p.Ile3079=) c.9168C= (p.Ile3056=) c.7572C= (p.Ile2524=) n.9708C= | |
6 | g.51748184G>T | CA3851390 | PKHD1 | c.9432C>A (p.Ile3144=) c.9303C>A (p.Ile3101=) c.9294C>A (p.Ile3098=) c.8790C>A (p.Ile2930=) c.8721C>A (p.Ile2907=) c.3507C>A (p.Ile1169=) c.9357C>A (p.Ile3119=) c.9237C>A (p.Ile3079=) c.9168C>A (p.Ile3056=) c.7572C>A (p.Ile2524=) n.9708C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748185A>C | CA364421081 | PKHD1 | c.9431T>G (p.Ile3144Ser) c.9302T>G (p.Ile3101Ser) c.9293T>G (p.Ile3098Ser) c.8789T>G (p.Ile2930Ser) c.8720T>G (p.Ile2907Ser) c.3506T>G (p.Ile1169Ser) c.9356T>G (p.Ile3119Ser) c.9236T>G (p.Ile3079Ser) c.9167T>G (p.Ile3056Ser) c.7571T>G (p.Ile2524Ser) n.9707T>G | |
6 | g.51748185A>G | CA364421082 | PKHD1 | c.9431T>C (p.Ile3144Thr) c.9302T>C (p.Ile3101Thr) c.9293T>C (p.Ile3098Thr) c.8789T>C (p.Ile2930Thr) c.8720T>C (p.Ile2907Thr) c.3506T>C (p.Ile1169Thr) c.9356T>C (p.Ile3119Thr) c.9236T>C (p.Ile3079Thr) c.9167T>C (p.Ile3056Thr) c.7571T>C (p.Ile2524Thr) n.9707T>C | |
6 | g.51748185A>T | CA364421083 | PKHD1 | c.9431T>A (p.Ile3144Asn) c.9302T>A (p.Ile3101Asn) c.9293T>A (p.Ile3098Asn) c.8789T>A (p.Ile2930Asn) c.8720T>A (p.Ile2907Asn) c.3506T>A (p.Ile1169Asn) c.9356T>A (p.Ile3119Asn) c.9236T>A (p.Ile3079Asn) c.9167T>A (p.Ile3056Asn) c.7571T>A (p.Ile2524Asn) n.9707T>A | gnomAD v4 |
6 | g.51748186T>A | CA364421084 | PKHD1 | c.9430A>T (p.Ile3144Phe) c.9301A>T (p.Ile3101Phe) c.9292A>T (p.Ile3098Phe) c.8788A>T (p.Ile2930Phe) c.8719A>T (p.Ile2907Phe) c.3505A>T (p.Ile1169Phe) c.9355A>T (p.Ile3119Phe) c.9235A>T (p.Ile3079Phe) c.9166A>T (p.Ile3056Phe) c.7570A>T (p.Ile2524Phe) n.9706A>T | |
6 | g.51748186T>C | CA364421085 | PKHD1 | c.9430A>G (p.Ile3144Val) c.9301A>G (p.Ile3101Val) c.9292A>G (p.Ile3098Val) c.8788A>G (p.Ile2930Val) c.8719A>G (p.Ile2907Val) c.3505A>G (p.Ile1169Val) c.9355A>G (p.Ile3119Val) c.9235A>G (p.Ile3079Val) c.9166A>G (p.Ile3056Val) c.7570A>G (p.Ile2524Val) n.9706A>G | |
6 | g.51748186T>G | CA364421086 | PKHD1 | c.9430A>C (p.Ile3144Leu) c.9301A>C (p.Ile3101Leu) c.9292A>C (p.Ile3098Leu) c.8788A>C (p.Ile2930Leu) c.8719A>C (p.Ile2907Leu) c.3505A>C (p.Ile1169Leu) c.9355A>C (p.Ile3119Leu) c.9235A>C (p.Ile3079Leu) c.9166A>C (p.Ile3056Leu) c.7570A>C (p.Ile2524Leu) n.9706A>C | |
6 | g.51748187T>A | CA364421087 | PKHD1 | c.9429A>T (p.Arg3143Ser) c.9300A>T (p.Arg3100Ser) c.9291A>T (p.Arg3097Ser) c.8787A>T (p.Arg2929Ser) c.8718A>T (p.Arg2906Ser) c.3504A>T (p.Arg1168Ser) c.9354A>T (p.Arg3118Ser) c.9234A>T (p.Arg3078Ser) c.9165A>T (p.Arg3055Ser) c.7569A>T (p.Arg2523Ser) n.9705A>T | gnomAD v4 |
6 | g.51748187T>C | CA450613733 | PKHD1 | c.9429A>G (p.Arg3143=) c.9300A>G (p.Arg3100=) c.9291A>G (p.Arg3097=) c.8787A>G (p.Arg2929=) c.8718A>G (p.Arg2906=) c.3504A>G (p.Arg1168=) c.9354A>G (p.Arg3118=) c.9234A>G (p.Arg3078=) c.9165A>G (p.Arg3055=) c.7569A>G (p.Arg2523=) n.9705A>G | ClinVar |
6 | g.51748187T>G | CA364421088 | PKHD1 | c.9429A>C (p.Arg3143Ser) c.9300A>C (p.Arg3100Ser) c.9291A>C (p.Arg3097Ser) c.8787A>C (p.Arg2929Ser) c.8718A>C (p.Arg2906Ser) c.3504A>C (p.Arg1168Ser) c.9354A>C (p.Arg3118Ser) c.9234A>C (p.Arg3078Ser) c.9165A>C (p.Arg3055Ser) c.7569A>C (p.Arg2523Ser) n.9705A>C | |
6 | g.51748188C>A | CA364421090 | PKHD1 | c.9428G>T (p.Arg3143Ile) c.9299G>T (p.Arg3100Ile) c.9290G>T (p.Arg3097Ile) c.8786G>T (p.Arg2929Ile) c.8717G>T (p.Arg2906Ile) c.3503G>T (p.Arg1168Ile) c.9353G>T (p.Arg3118Ile) c.9233G>T (p.Arg3078Ile) c.9164G>T (p.Arg3055Ile) c.7568G>T (p.Arg2523Ile) n.9704G>T | gnomAD v4 |
6 | g.51748188C= | CA1628502715 | PKHD1 | c.9428G= (p.Arg3143=) c.9299G= (p.Arg3100=) c.9290G= (p.Arg3097=) c.8786G= (p.Arg2929=) c.8717G= (p.Arg2906=) c.3503G= (p.Arg1168=) c.9353G= (p.Arg3118=) c.9233G= (p.Arg3078=) c.9164G= (p.Arg3055=) c.7568G= (p.Arg2523=) n.9704G= | |
6 | g.51748188C>G | CA364421091 | PKHD1 | c.9428G>C (p.Arg3143Thr) c.9299G>C (p.Arg3100Thr) c.9290G>C (p.Arg3097Thr) c.8786G>C (p.Arg2929Thr) c.8717G>C (p.Arg2906Thr) c.3503G>C (p.Arg1168Thr) c.9353G>C (p.Arg3118Thr) c.9233G>C (p.Arg3078Thr) c.9164G>C (p.Arg3055Thr) c.7568G>C (p.Arg2523Thr) n.9704G>C | |
6 | g.51748188C>T | CA364421092 | PKHD1 | c.9428G>A (p.Arg3143Lys) c.9299G>A (p.Arg3100Lys) c.9290G>A (p.Arg3097Lys) c.8786G>A (p.Arg2929Lys) c.8717G>A (p.Arg2906Lys) c.3503G>A (p.Arg1168Lys) c.9353G>A (p.Arg3118Lys) c.9233G>A (p.Arg3078Lys) c.9164G>A (p.Arg3055Lys) c.7568G>A (p.Arg2523Lys) n.9704G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748189T>A | CA364421093 | PKHD1 | c.9427A>T (p.Arg3143Ter) c.9298A>T (p.Arg3100Ter) c.9289A>T (p.Arg3097Ter) c.8785A>T (p.Arg2929Ter) c.8716A>T (p.Arg2906Ter) c.3502A>T (p.Arg1168Ter) c.9352A>T (p.Arg3118Ter) c.9232A>T (p.Arg3078Ter) c.9163A>T (p.Arg3055Ter) c.7567A>T (p.Arg2523Ter) n.9703A>T | |
6 | g.51748189T>C | CA364421094 | PKHD1 | c.9427A>G (p.Arg3143Gly) c.9298A>G (p.Arg3100Gly) c.9289A>G (p.Arg3097Gly) c.8785A>G (p.Arg2929Gly) c.8716A>G (p.Arg2906Gly) c.3502A>G (p.Arg1168Gly) c.9352A>G (p.Arg3118Gly) c.9232A>G (p.Arg3078Gly) c.9163A>G (p.Arg3055Gly) c.7567A>G (p.Arg2523Gly) n.9703A>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748189T>G | CA450613739 | PKHD1 | c.9427A>C (p.Arg3143=) c.9298A>C (p.Arg3100=) c.9289A>C (p.Arg3097=) c.8785A>C (p.Arg2929=) c.8716A>C (p.Arg2906=) c.3502A>C (p.Arg1168=) c.9352A>C (p.Arg3118=) c.9232A>C (p.Arg3078=) c.9163A>C (p.Arg3055=) c.7567A>C (p.Arg2523=) n.9703A>C | |
6 | g.51748189T= | CA1628502717 | PKHD1 | c.9427A= (p.Arg3143=) c.9298A= (p.Arg3100=) c.9289A= (p.Arg3097=) c.8785A= (p.Arg2929=) c.8716A= (p.Arg2906=) c.3502A= (p.Arg1168=) c.9352A= (p.Arg3118=) c.9232A= (p.Arg3078=) c.9163A= (p.Arg3055=) c.7567A= (p.Arg2523=) n.9703A= | |
6 | g.51748190G>A | CA450613740 | PKHD1 | c.9426C>T (p.Thr3142=) c.9297C>T (p.Thr3099=) c.9288C>T (p.Thr3096=) c.8784C>T (p.Thr2928=) c.8715C>T (p.Thr2905=) c.3501C>T (p.Thr1167=) c.9351C>T (p.Thr3117=) c.9231C>T (p.Thr3077=) c.9162C>T (p.Thr3054=) c.7566C>T (p.Thr2522=) n.9702C>T | COSMIC COSMIC |
6 | g.51748190G>C | CA450613741 | PKHD1 | c.9426C>G (p.Thr3142=) c.9297C>G (p.Thr3099=) c.9288C>G (p.Thr3096=) c.8784C>G (p.Thr2928=) c.8715C>G (p.Thr2905=) c.3501C>G (p.Thr1167=) c.9351C>G (p.Thr3117=) c.9231C>G (p.Thr3077=) c.9162C>G (p.Thr3054=) c.7566C>G (p.Thr2522=) n.9702C>G | |
6 | g.51748190G= | CA1628502720 | PKHD1 | c.9426C= (p.Thr3142=) c.9297C= (p.Thr3099=) c.9288C= (p.Thr3096=) c.8784C= (p.Thr2928=) c.8715C= (p.Thr2905=) c.3501C= (p.Thr1167=) c.9351C= (p.Thr3117=) c.9231C= (p.Thr3077=) c.9162C= (p.Thr3054=) c.7566C= (p.Thr2522=) n.9702C= | |
6 | g.51748190G>T | CA450613742 | PKHD1 | c.9426C>A (p.Thr3142=) c.9297C>A (p.Thr3099=) c.9288C>A (p.Thr3096=) c.8784C>A (p.Thr2928=) c.8715C>A (p.Thr2905=) c.3501C>A (p.Thr1167=) c.9351C>A (p.Thr3117=) c.9231C>A (p.Thr3077=) c.9162C>A (p.Thr3054=) c.7566C>A (p.Thr2522=) n.9702C>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748191G>A | CA138896249 | PKHD1 | c.9425C>T (p.Thr3142Ile) c.9296C>T (p.Thr3099Ile) c.9287C>T (p.Thr3096Ile) c.8783C>T (p.Thr2928Ile) c.8714C>T (p.Thr2905Ile) c.3500C>T (p.Thr1167Ile) c.9350C>T (p.Thr3117Ile) c.9230C>T (p.Thr3077Ile) c.9161C>T (p.Thr3054Ile) c.7565C>T (p.Thr2522Ile) n.9701C>T | dbSNP gnomAD v4 |
6 | g.51748191G>C | CA364421096 | PKHD1 | c.9425C>G (p.Thr3142Ser) c.9296C>G (p.Thr3099Ser) c.9287C>G (p.Thr3096Ser) c.8783C>G (p.Thr2928Ser) c.8714C>G (p.Thr2905Ser) c.3500C>G (p.Thr1167Ser) c.9350C>G (p.Thr3117Ser) c.9230C>G (p.Thr3077Ser) c.9161C>G (p.Thr3054Ser) c.7565C>G (p.Thr2522Ser) n.9701C>G | |
6 | g.51748191G= | CA1628502725 | PKHD1 | c.9425C= (p.Thr3142=) c.9296C= (p.Thr3099=) c.9287C= (p.Thr3096=) c.8783C= (p.Thr2928=) c.8714C= (p.Thr2905=) c.3500C= (p.Thr1167=) c.9350C= (p.Thr3117=) c.9230C= (p.Thr3077=) c.9161C= (p.Thr3054=) c.7565C= (p.Thr2522=) n.9701C= | |
6 | g.51748191G>T | CA364421095 | PKHD1 | c.9425C>A (p.Thr3142Asn) c.9296C>A (p.Thr3099Asn) c.9287C>A (p.Thr3096Asn) c.8783C>A (p.Thr2928Asn) c.8714C>A (p.Thr2905Asn) c.3500C>A (p.Thr1167Asn) c.9350C>A (p.Thr3117Asn) c.9230C>A (p.Thr3077Asn) c.9161C>A (p.Thr3054Asn) c.7565C>A (p.Thr2522Asn) n.9701C>A | COSMIC COSMIC |
6 | g.51748192T>A | CA364421098 | PKHD1 | c.9424A>T (p.Thr3142Ser) c.9295A>T (p.Thr3099Ser) c.9286A>T (p.Thr3096Ser) c.8782A>T (p.Thr2928Ser) c.8713A>T (p.Thr2905Ser) c.3499A>T (p.Thr1167Ser) c.9349A>T (p.Thr3117Ser) c.9229A>T (p.Thr3077Ser) c.9160A>T (p.Thr3054Ser) c.7564A>T (p.Thr2522Ser) n.9700A>T | gnomAD v4 |
6 | g.51748192T>C | CA364421097 | PKHD1 | c.9424A>G (p.Thr3142Ala) c.9295A>G (p.Thr3099Ala) c.9286A>G (p.Thr3096Ala) c.8782A>G (p.Thr2928Ala) c.8713A>G (p.Thr2905Ala) c.3499A>G (p.Thr1167Ala) c.9349A>G (p.Thr3117Ala) c.9229A>G (p.Thr3077Ala) c.9160A>G (p.Thr3054Ala) c.7564A>G (p.Thr2522Ala) n.9700A>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748192T>G | CA364421099 | PKHD1 | c.9424A>C (p.Thr3142Pro) c.9295A>C (p.Thr3099Pro) c.9286A>C (p.Thr3096Pro) c.8782A>C (p.Thr2928Pro) c.8713A>C (p.Thr2905Pro) c.3499A>C (p.Thr1167Pro) c.9349A>C (p.Thr3117Pro) c.9229A>C (p.Thr3077Pro) c.9160A>C (p.Thr3054Pro) c.7564A>C (p.Thr2522Pro) n.9700A>C | |
6 | g.51748192T= | CA1628502730 | PKHD1 | c.9424A= (p.Thr3142=) c.9295A= (p.Thr3099=) c.9286A= (p.Thr3096=) c.8782A= (p.Thr2928=) c.8713A= (p.Thr2905=) c.3499A= (p.Thr1167=) c.9349A= (p.Thr3117=) c.9229A= (p.Thr3077=) c.9160A= (p.Thr3054=) c.7564A= (p.Thr2522=) n.9700A= | |
6 | g.51748193A>C | CA364421100 | PKHD1 | c.9423T>G (p.Cys3141Trp) c.9294T>G (p.Cys3098Trp) c.9285T>G (p.Cys3095Trp) c.8781T>G (p.Cys2927Trp) c.8712T>G (p.Cys2904Trp) c.3498T>G (p.Cys1166Trp) c.9348T>G (p.Cys3116Trp) c.9228T>G (p.Cys3076Trp) c.9159T>G (p.Cys3053Trp) c.7563T>G (p.Cys2521Trp) n.9699T>G | |
6 | g.51748193A>G | CA450613747 | PKHD1 | c.9423T>C (p.Cys3141=) c.9294T>C (p.Cys3098=) c.9285T>C (p.Cys3095=) c.8781T>C (p.Cys2927=) c.8712T>C (p.Cys2904=) c.3498T>C (p.Cys1166=) c.9348T>C (p.Cys3116=) c.9228T>C (p.Cys3076=) c.9159T>C (p.Cys3053=) c.7563T>C (p.Cys2521=) n.9699T>C | |
6 | g.51748193A>T | CA364421101 | PKHD1 | c.9423T>A (p.Cys3141Ter) c.9294T>A (p.Cys3098Ter) c.9285T>A (p.Cys3095Ter) c.8781T>A (p.Cys2927Ter) c.8712T>A (p.Cys2904Ter) c.3498T>A (p.Cys1166Ter) c.9348T>A (p.Cys3116Ter) c.9228T>A (p.Cys3076Ter) c.9159T>A (p.Cys3053Ter) c.7563T>A (p.Cys2521Ter) n.9699T>A | |
6 | g.51748193_51748194insGA | CA2524344115 | PKHD1 | c.9423_9424insCT (p.Thr3142LeufsTer21) c.9294_9295insCT (p.Thr3099LeufsTer21) c.9285_9286insCT (p.Thr3096LeufsTer21) c.8781_8782insCT (p.Thr2928LeufsTer21) c.8712_8713insCT (p.Thr2905LeufsTer21) c.3498_3499insCT (p.Thr1167LeufsTer21) c.9348_9349insCT (p.Thr3117LeufsTer21) c.9228_9229insCT (p.Thr3077LeufsTer21) c.9159_9160insCT (p.Thr3054LeufsTer21) c.7563_7564insCT (p.Thr2522LeufsTer21) n.9699_9700insCT | |
6 | g.51748194C>A | CA364421102 | PKHD1 | c.9422G>T (p.Cys3141Phe) c.9293G>T (p.Cys3098Phe) c.9284G>T (p.Cys3095Phe) c.8780G>T (p.Cys2927Phe) c.8711G>T (p.Cys2904Phe) c.3497G>T (p.Cys1166Phe) c.9347G>T (p.Cys3116Phe) c.9227G>T (p.Cys3076Phe) c.9158G>T (p.Cys3053Phe) c.7562G>T (p.Cys2521Phe) n.9698G>T | gnomAD v4 |
6 | g.51748194C>G | CA364421103 | PKHD1 | c.9422G>C (p.Cys3141Ser) c.9293G>C (p.Cys3098Ser) c.9284G>C (p.Cys3095Ser) c.8780G>C (p.Cys2927Ser) c.8711G>C (p.Cys2904Ser) c.3497G>C (p.Cys1166Ser) c.9347G>C (p.Cys3116Ser) c.9227G>C (p.Cys3076Ser) c.9158G>C (p.Cys3053Ser) c.7562G>C (p.Cys2521Ser) n.9698G>C | |
6 | g.51748194C>T | CA364421104 | PKHD1 | c.9422G>A (p.Cys3141Tyr) c.9293G>A (p.Cys3098Tyr) c.9284G>A (p.Cys3095Tyr) c.8780G>A (p.Cys2927Tyr) c.8711G>A (p.Cys2904Tyr) c.3497G>A (p.Cys1166Tyr) c.9347G>A (p.Cys3116Tyr) c.9227G>A (p.Cys3076Tyr) c.9158G>A (p.Cys3053Tyr) c.7562G>A (p.Cys2521Tyr) n.9698G>A | gnomAD v4 |
6 | g.51748195A= | CA1628502735 | PKHD1 | c.9421T= (p.Cys3141=) c.9292T= (p.Cys3098=) c.9283T= (p.Cys3095=) c.8779T= (p.Cys2927=) c.8710T= (p.Cys2904=) c.3496T= (p.Cys1166=) c.9346T= (p.Cys3116=) c.9226T= (p.Cys3076=) c.9157T= (p.Cys3053=) c.7561T= (p.Cys2521=) n.9697T= | |
6 | g.51748195A>C | CA364421107 | PKHD1 | c.9421T>G (p.Cys3141Gly) c.9292T>G (p.Cys3098Gly) c.9283T>G (p.Cys3095Gly) c.8779T>G (p.Cys2927Gly) c.8710T>G (p.Cys2904Gly) c.3496T>G (p.Cys1166Gly) c.9346T>G (p.Cys3116Gly) c.9226T>G (p.Cys3076Gly) c.9157T>G (p.Cys3053Gly) c.7561T>G (p.Cys2521Gly) n.9697T>G | |
6 | g.51748195A>G | CA364421106 | PKHD1 | c.9421T>C (p.Cys3141Arg) c.9292T>C (p.Cys3098Arg) c.9283T>C (p.Cys3095Arg) c.8779T>C (p.Cys2927Arg) c.8710T>C (p.Cys2904Arg) c.3496T>C (p.Cys1166Arg) c.9346T>C (p.Cys3116Arg) c.9226T>C (p.Cys3076Arg) c.9157T>C (p.Cys3053Arg) c.7561T>C (p.Cys2521Arg) n.9697T>C | |
6 | g.51748195A>T | CA364421105 | PKHD1 | c.9421T>A (p.Cys3141Ser) c.9292T>A (p.Cys3098Ser) c.9283T>A (p.Cys3095Ser) c.8779T>A (p.Cys2927Ser) c.8710T>A (p.Cys2904Ser) c.3496T>A (p.Cys1166Ser) c.9346T>A (p.Cys3116Ser) c.9226T>A (p.Cys3076Ser) c.9157T>A (p.Cys3053Ser) c.7561T>A (p.Cys2521Ser) n.9697T>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748195_51748196insATACT | CA2529619496 | PKHD1 | c.9420_9421insAGTAT (p.Cys3141SerfsTer23) c.9291_9292insAGTAT (p.Cys3098SerfsTer23) c.9282_9283insAGTAT (p.Cys3095SerfsTer23) c.8778_8779insAGTAT (p.Cys2927SerfsTer23) c.8709_8710insAGTAT (p.Cys2904SerfsTer23) c.3495_3496insAGTAT (p.Cys1166SerfsTer23) c.9345_9346insAGTAT (p.Cys3116SerfsTer23) c.9225_9226insAGTAT (p.Cys3076SerfsTer23) c.9156_9157insAGTAT (p.Cys3053SerfsTer23) c.7560_7561insAGTAT (p.Cys2521SerfsTer23) n.9696_9697insAGTAT | |
6 | g.51748196G>A | CA3851391 | PKHD1 | c.9420C>T (p.Asn3140=) c.9291C>T (p.Asn3097=) c.9282C>T (p.Asn3094=) c.8778C>T (p.Asn2926=) c.8709C>T (p.Asn2903=) c.3495C>T (p.Asn1165=) c.9345C>T (p.Asn3115=) c.9225C>T (p.Asn3075=) c.9156C>T (p.Asn3052=) c.7560C>T (p.Asn2520=) n.9696C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748196G>C | CA364421108 | PKHD1 | c.9420C>G (p.Asn3140Lys) c.9291C>G (p.Asn3097Lys) c.9282C>G (p.Asn3094Lys) c.8778C>G (p.Asn2926Lys) c.8709C>G (p.Asn2903Lys) c.3495C>G (p.Asn1165Lys) c.9345C>G (p.Asn3115Lys) c.9225C>G (p.Asn3075Lys) c.9156C>G (p.Asn3052Lys) c.7560C>G (p.Asn2520Lys) n.9696C>G | |
6 | g.51748196G= | CA1628502741 | PKHD1 | c.9420C= (p.Asn3140=) c.9291C= (p.Asn3097=) c.9282C= (p.Asn3094=) c.8778C= (p.Asn2926=) c.8709C= (p.Asn2903=) c.3495C= (p.Asn1165=) c.9345C= (p.Asn3115=) c.9225C= (p.Asn3075=) c.9156C= (p.Asn3052=) c.7560C= (p.Asn2520=) n.9696C= | |
6 | g.51748196G>T | CA364421109 | PKHD1 | c.9420C>A (p.Asn3140Lys) c.9291C>A (p.Asn3097Lys) c.9282C>A (p.Asn3094Lys) c.8778C>A (p.Asn2926Lys) c.8709C>A (p.Asn2903Lys) c.3495C>A (p.Asn1165Lys) c.9345C>A (p.Asn3115Lys) c.9225C>A (p.Asn3075Lys) c.9156C>A (p.Asn3052Lys) c.7560C>A (p.Asn2520Lys) n.9696C>A | |
6 | g.51748197T>A | CA364421110 | PKHD1 | c.9419A>T (p.Asn3140Ile) c.9290A>T (p.Asn3097Ile) c.9281A>T (p.Asn3094Ile) c.8777A>T (p.Asn2926Ile) c.8708A>T (p.Asn2903Ile) c.3494A>T (p.Asn1165Ile) c.9344A>T (p.Asn3115Ile) c.9224A>T (p.Asn3075Ile) c.9155A>T (p.Asn3052Ile) c.7559A>T (p.Asn2520Ile) n.9695A>T | |
6 | g.51748197T>C | CA364421111 | PKHD1 | c.9419A>G (p.Asn3140Ser) c.9290A>G (p.Asn3097Ser) c.9281A>G (p.Asn3094Ser) c.8777A>G (p.Asn2926Ser) c.8708A>G (p.Asn2903Ser) c.3494A>G (p.Asn1165Ser) c.9344A>G (p.Asn3115Ser) c.9224A>G (p.Asn3075Ser) c.9155A>G (p.Asn3052Ser) c.7559A>G (p.Asn2520Ser) n.9695A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748197T>G | CA364421112 | PKHD1 | c.9419A>C (p.Asn3140Thr) c.9290A>C (p.Asn3097Thr) c.9281A>C (p.Asn3094Thr) c.8777A>C (p.Asn2926Thr) c.8708A>C (p.Asn2903Thr) c.3494A>C (p.Asn1165Thr) c.9344A>C (p.Asn3115Thr) c.9224A>C (p.Asn3075Thr) c.9155A>C (p.Asn3052Thr) c.7559A>C (p.Asn2520Thr) n.9695A>C | |
6 | g.51748197T= | CA1628502742 | PKHD1 | c.9419A= (p.Asn3140=) c.9290A= (p.Asn3097=) c.9281A= (p.Asn3094=) c.8777A= (p.Asn2926=) c.8708A= (p.Asn2903=) c.3494A= (p.Asn1165=) c.9344A= (p.Asn3115=) c.9224A= (p.Asn3075=) c.9155A= (p.Asn3052=) c.7559A= (p.Asn2520=) n.9695A= | |
6 | g.51748198T>A | CA364421113 | PKHD1 | c.9418A>T (p.Asn3140Tyr) c.9289A>T (p.Asn3097Tyr) c.9280A>T (p.Asn3094Tyr) c.8776A>T (p.Asn2926Tyr) c.8707A>T (p.Asn2903Tyr) c.3493A>T (p.Asn1165Tyr) c.9343A>T (p.Asn3115Tyr) c.9223A>T (p.Asn3075Tyr) c.9154A>T (p.Asn3052Tyr) c.7558A>T (p.Asn2520Tyr) n.9694A>T | |
6 | g.51748198T>C | CA3851392 | PKHD1 | c.9418A>G (p.Asn3140Asp) c.9289A>G (p.Asn3097Asp) c.9280A>G (p.Asn3094Asp) c.8776A>G (p.Asn2926Asp) c.8707A>G (p.Asn2903Asp) c.3493A>G (p.Asn1165Asp) c.9343A>G (p.Asn3115Asp) c.9223A>G (p.Asn3075Asp) c.9154A>G (p.Asn3052Asp) c.7558A>G (p.Asn2520Asp) n.9694A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748198T>G | CA364421114 | PKHD1 | c.9418A>C (p.Asn3140His) c.9289A>C (p.Asn3097His) c.9280A>C (p.Asn3094His) c.8776A>C (p.Asn2926His) c.8707A>C (p.Asn2903His) c.3493A>C (p.Asn1165His) c.9343A>C (p.Asn3115His) c.9223A>C (p.Asn3075His) c.9154A>C (p.Asn3052His) c.7558A>C (p.Asn2520His) n.9694A>C | |
6 | g.51748198T= | CA1628502746 | PKHD1 | c.9418A= (p.Asn3140=) c.9289A= (p.Asn3097=) c.9280A= (p.Asn3094=) c.8776A= (p.Asn2926=) c.8707A= (p.Asn2903=) c.3493A= (p.Asn1165=) c.9343A= (p.Asn3115=) c.9223A= (p.Asn3075=) c.9154A= (p.Asn3052=) c.7558A= (p.Asn2520=) n.9694A= | |
6 | g.51748199G>A | CA450613755 | PKHD1 | c.9417C>T (p.Asp3139=) c.9288C>T (p.Asp3096=) c.9279C>T (p.Asp3093=) c.8775C>T (p.Asp2925=) c.8706C>T (p.Asp2902=) c.3492C>T (p.Asp1164=) c.9342C>T (p.Asp3114=) c.9222C>T (p.Asp3074=) c.9153C>T (p.Asp3051=) c.7557C>T (p.Asp2519=) n.9693C>T | gnomAD v4 |
6 | g.51748199G>C | CA364421115 | PKHD1 | c.9417C>G (p.Asp3139Glu) c.9288C>G (p.Asp3096Glu) c.9279C>G (p.Asp3093Glu) c.8775C>G (p.Asp2925Glu) c.8706C>G (p.Asp2902Glu) c.3492C>G (p.Asp1164Glu) c.9342C>G (p.Asp3114Glu) c.9222C>G (p.Asp3074Glu) c.9153C>G (p.Asp3051Glu) c.7557C>G (p.Asp2519Glu) n.9693C>G | |
6 | g.51748199G>T | CA364421116 | PKHD1 | c.9417C>A (p.Asp3139Glu) c.9288C>A (p.Asp3096Glu) c.9279C>A (p.Asp3093Glu) c.8775C>A (p.Asp2925Glu) c.8706C>A (p.Asp2902Glu) c.3492C>A (p.Asp1164Glu) c.9342C>A (p.Asp3114Glu) c.9222C>A (p.Asp3074Glu) c.9153C>A (p.Asp3051Glu) c.7557C>A (p.Asp2519Glu) n.9693C>A | |
6 | g.51748200T>A | CA364421117 | PKHD1 | c.9416A>T (p.Asp3139Val) c.9287A>T (p.Asp3096Val) c.9278A>T (p.Asp3093Val) c.8774A>T (p.Asp2925Val) c.8705A>T (p.Asp2902Val) c.3491A>T (p.Asp1164Val) c.9341A>T (p.Asp3114Val) c.9221A>T (p.Asp3074Val) c.9152A>T (p.Asp3051Val) c.7556A>T (p.Asp2519Val) n.9692A>T | |
6 | g.51748200T>C | CA364421118 | PKHD1 | c.9416A>G (p.Asp3139Gly) c.9287A>G (p.Asp3096Gly) c.9278A>G (p.Asp3093Gly) c.8774A>G (p.Asp2925Gly) c.8705A>G (p.Asp2902Gly) c.3491A>G (p.Asp1164Gly) c.9341A>G (p.Asp3114Gly) c.9221A>G (p.Asp3074Gly) c.9152A>G (p.Asp3051Gly) c.7556A>G (p.Asp2519Gly) n.9692A>G | |
6 | g.51748200T>G | CA138896253 | PKHD1 | c.9416A>C (p.Asp3139Ala) c.9287A>C (p.Asp3096Ala) c.9278A>C (p.Asp3093Ala) c.8774A>C (p.Asp2925Ala) c.8705A>C (p.Asp2902Ala) c.3491A>C (p.Asp1164Ala) c.9341A>C (p.Asp3114Ala) c.9221A>C (p.Asp3074Ala) c.9152A>C (p.Asp3051Ala) c.7556A>C (p.Asp2519Ala) n.9692A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748200T= | CA1628502749 | PKHD1 | c.9416A= (p.Asp3139=) c.9287A= (p.Asp3096=) c.9278A= (p.Asp3093=) c.8774A= (p.Asp2925=) c.8705A= (p.Asp2902=) c.3491A= (p.Asp1164=) c.9341A= (p.Asp3114=) c.9221A= (p.Asp3074=) c.9152A= (p.Asp3051=) c.7556A= (p.Asp2519=) n.9692A= | |
6 | g.51748201C>A | CA180301 | PKHD1 | c.9415G>T (p.Asp3139Tyr) c.9286G>T (p.Asp3096Tyr) c.9277G>T (p.Asp3093Tyr) c.8773G>T (p.Asp2925Tyr) c.8704G>T (p.Asp2902Tyr) c.3490G>T (p.Asp1164Tyr) c.9340G>T (p.Asp3114Tyr) c.9220G>T (p.Asp3074Tyr) c.9151G>T (p.Asp3051Tyr) c.7555G>T (p.Asp2519Tyr) n.9691G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748201C= | CA1628502755 | PKHD1 | c.9415G= (p.Asp3139=) c.9286G= (p.Asp3096=) c.9277G= (p.Asp3093=) c.8773G= (p.Asp2925=) c.8704G= (p.Asp2902=) c.3490G= (p.Asp1164=) c.9340G= (p.Asp3114=) c.9220G= (p.Asp3074=) c.9151G= (p.Asp3051=) c.7555G= (p.Asp2519=) n.9691G= | |
6 | g.51748201C>G | CA364421119 | PKHD1 | c.9415G>C (p.Asp3139His) c.9286G>C (p.Asp3096His) c.9277G>C (p.Asp3093His) c.8773G>C (p.Asp2925His) c.8704G>C (p.Asp2902His) c.3490G>C (p.Asp1164His) c.9340G>C (p.Asp3114His) c.9220G>C (p.Asp3074His) c.9151G>C (p.Asp3051His) c.7555G>C (p.Asp2519His) n.9691G>C | gnomAD v4 |
6 | g.51748201C>T | CA364421120 | PKHD1 | c.9415G>A (p.Asp3139Asn) c.9286G>A (p.Asp3096Asn) c.9277G>A (p.Asp3093Asn) c.8773G>A (p.Asp2925Asn) c.8704G>A (p.Asp2902Asn) c.3490G>A (p.Asp1164Asn) c.9340G>A (p.Asp3114Asn) c.9220G>A (p.Asp3074Asn) c.9151G>A (p.Asp3051Asn) c.7555G>A (p.Asp2519Asn) n.9691G>A | |
6 | g.51748202A= | CA1628502758 | PKHD1 | c.9414T= (p.Leu3138=) c.9285T= (p.Leu3095=) c.9276T= (p.Leu3092=) c.8772T= (p.Leu2924=) c.8703T= (p.Leu2901=) c.3489T= (p.Leu1163=) c.9339T= (p.Leu3113=) c.9219T= (p.Leu3073=) c.9150T= (p.Leu3050=) c.7554T= (p.Leu2518=) n.9690T= | |
6 | g.51748202A>C | CA450613758 | PKHD1 | c.9414T>G (p.Leu3138=) c.9285T>G (p.Leu3095=) c.9276T>G (p.Leu3092=) c.8772T>G (p.Leu2924=) c.8703T>G (p.Leu2901=) c.3489T>G (p.Leu1163=) c.9339T>G (p.Leu3113=) c.9219T>G (p.Leu3073=) c.9150T>G (p.Leu3050=) c.7554T>G (p.Leu2518=) n.9690T>G | |
6 | g.51748202A>G | CA450613759 | PKHD1 | c.9414T>C (p.Leu3138=) c.9285T>C (p.Leu3095=) c.9276T>C (p.Leu3092=) c.8772T>C (p.Leu2924=) c.8703T>C (p.Leu2901=) c.3489T>C (p.Leu1163=) c.9339T>C (p.Leu3113=) c.9219T>C (p.Leu3073=) c.9150T>C (p.Leu3050=) c.7554T>C (p.Leu2518=) n.9690T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748202A>T | CA450613760 | PKHD1 | c.9414T>A (p.Leu3138=) c.9285T>A (p.Leu3095=) c.9276T>A (p.Leu3092=) c.8772T>A (p.Leu2924=) c.8703T>A (p.Leu2901=) c.3489T>A (p.Leu1163=) c.9339T>A (p.Leu3113=) c.9219T>A (p.Leu3073=) c.9150T>A (p.Leu3050=) c.7554T>A (p.Leu2518=) n.9690T>A | |
6 | g.51748203A>C | CA364421121 | PKHD1 | c.9413T>G (p.Leu3138Arg) c.9284T>G (p.Leu3095Arg) c.9275T>G (p.Leu3092Arg) c.8771T>G (p.Leu2924Arg) c.8702T>G (p.Leu2901Arg) c.3488T>G (p.Leu1163Arg) c.9338T>G (p.Leu3113Arg) c.9218T>G (p.Leu3073Arg) c.9149T>G (p.Leu3050Arg) c.7553T>G (p.Leu2518Arg) n.9689T>G | |
6 | g.51748203A>G | CA364421122 | PKHD1 | c.9413T>C (p.Leu3138Pro) c.9284T>C (p.Leu3095Pro) c.9275T>C (p.Leu3092Pro) c.8771T>C (p.Leu2924Pro) c.8702T>C (p.Leu2901Pro) c.3488T>C (p.Leu1163Pro) c.9338T>C (p.Leu3113Pro) c.9218T>C (p.Leu3073Pro) c.9149T>C (p.Leu3050Pro) c.7553T>C (p.Leu2518Pro) n.9689T>C | |
6 | g.51748203A>T | CA364421123 | PKHD1 | c.9413T>A (p.Leu3138His) c.9284T>A (p.Leu3095His) c.9275T>A (p.Leu3092His) c.8771T>A (p.Leu2924His) c.8702T>A (p.Leu2901His) c.3488T>A (p.Leu1163His) c.9338T>A (p.Leu3113His) c.9218T>A (p.Leu3073His) c.9149T>A (p.Leu3050His) c.7553T>A (p.Leu2518His) n.9689T>A | |
6 | g.51748204G>A | CA364421124 | PKHD1 | c.9412C>T (p.Leu3138Phe) c.9283C>T (p.Leu3095Phe) c.9274C>T (p.Leu3092Phe) c.8770C>T (p.Leu2924Phe) c.8701C>T (p.Leu2901Phe) c.3487C>T (p.Leu1163Phe) c.9337C>T (p.Leu3113Phe) c.9217C>T (p.Leu3073Phe) c.9148C>T (p.Leu3050Phe) c.7552C>T (p.Leu2518Phe) n.9688C>T | |
6 | g.51748204G>C | CA364421126 | PKHD1 | c.9412C>G (p.Leu3138Val) c.9283C>G (p.Leu3095Val) c.9274C>G (p.Leu3092Val) c.8770C>G (p.Leu2924Val) c.8701C>G (p.Leu2901Val) c.3487C>G (p.Leu1163Val) c.9337C>G (p.Leu3113Val) c.9217C>G (p.Leu3073Val) c.9148C>G (p.Leu3050Val) c.7552C>G (p.Leu2518Val) n.9688C>G | |
6 | g.51748204G>T | CA364421125 | PKHD1 | c.9412C>A (p.Leu3138Ile) c.9283C>A (p.Leu3095Ile) c.9274C>A (p.Leu3092Ile) c.8770C>A (p.Leu2924Ile) c.8701C>A (p.Leu2901Ile) c.3487C>A (p.Leu1163Ile) c.9337C>A (p.Leu3113Ile) c.9217C>A (p.Leu3073Ile) c.9148C>A (p.Leu3050Ile) c.7552C>A (p.Leu2518Ile) n.9688C>A | |
6 | g.51748205T>A | CA3851393 | PKHD1 | c.9411A>T (p.Gly3137=) c.9282A>T (p.Gly3094=) c.9273A>T (p.Gly3091=) c.8769A>T (p.Gly2923=) c.8700A>T (p.Gly2900=) c.3486A>T (p.Gly1162=) c.9336A>T (p.Gly3112=) c.9216A>T (p.Gly3072=) c.9147A>T (p.Gly3049=) c.7551A>T (p.Gly2517=) n.9687A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748205T>C | CA450613762 | PKHD1 | c.9411A>G (p.Gly3137=) c.9282A>G (p.Gly3094=) c.9273A>G (p.Gly3091=) c.8769A>G (p.Gly2923=) c.8700A>G (p.Gly2900=) c.3486A>G (p.Gly1162=) c.9336A>G (p.Gly3112=) c.9216A>G (p.Gly3072=) c.9147A>G (p.Gly3049=) c.7551A>G (p.Gly2517=) n.9687A>G | |
6 | g.51748205T>G | CA450613763 | PKHD1 | c.9411A>C (p.Gly3137=) c.9282A>C (p.Gly3094=) c.9273A>C (p.Gly3091=) c.8769A>C (p.Gly2923=) c.8700A>C (p.Gly2900=) c.3486A>C (p.Gly1162=) c.9336A>C (p.Gly3112=) c.9216A>C (p.Gly3072=) c.9147A>C (p.Gly3049=) c.7551A>C (p.Gly2517=) n.9687A>C | |
6 | g.51748205T= | CA1628502762 | PKHD1 | c.9411A= (p.Gly3137=) c.9282A= (p.Gly3094=) c.9273A= (p.Gly3091=) c.8769A= (p.Gly2923=) c.8700A= (p.Gly2900=) c.3486A= (p.Gly1162=) c.9336A= (p.Gly3112=) c.9216A= (p.Gly3072=) c.9147A= (p.Gly3049=) c.7551A= (p.Gly2517=) n.9687A= | |
6 | g.51748206C>A | CA364421127 | PKHD1 | c.9410G>T (p.Gly3137Val) c.9281G>T (p.Gly3094Val) c.9272G>T (p.Gly3091Val) c.8768G>T (p.Gly2923Val) c.8699G>T (p.Gly2900Val) c.3485G>T (p.Gly1162Val) c.9335G>T (p.Gly3112Val) c.9215G>T (p.Gly3072Val) c.9146G>T (p.Gly3049Val) c.7550G>T (p.Gly2517Val) n.9686G>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748206C= | CA1628502773 | PKHD1 | c.9410G= (p.Gly3137=) c.9281G= (p.Gly3094=) c.9272G= (p.Gly3091=) c.8768G= (p.Gly2923=) c.8699G= (p.Gly2900=) c.3485G= (p.Gly1162=) c.9335G= (p.Gly3112=) c.9215G= (p.Gly3072=) c.9146G= (p.Gly3049=) c.7550G= (p.Gly2517=) n.9686G= | |
6 | g.51748206C>G | CA364421128 | PKHD1 | c.9410G>C (p.Gly3137Ala) c.9281G>C (p.Gly3094Ala) c.9272G>C (p.Gly3091Ala) c.8768G>C (p.Gly2923Ala) c.8699G>C (p.Gly2900Ala) c.3485G>C (p.Gly1162Ala) c.9335G>C (p.Gly3112Ala) c.9215G>C (p.Gly3072Ala) c.9146G>C (p.Gly3049Ala) c.7550G>C (p.Gly2517Ala) n.9686G>C | |
6 | g.51748206C>T | CA364421129 | PKHD1 | c.9410G>A (p.Gly3137Glu) c.9281G>A (p.Gly3094Glu) c.9272G>A (p.Gly3091Glu) c.8768G>A (p.Gly2923Glu) c.8699G>A (p.Gly2900Glu) c.3485G>A (p.Gly1162Glu) c.9335G>A (p.Gly3112Glu) c.9215G>A (p.Gly3072Glu) c.9146G>A (p.Gly3049Glu) c.7550G>A (p.Gly2517Glu) n.9686G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748207C>A | CA364421130 | PKHD1 | c.9409G>T (p.Gly3137Ter) c.9280G>T (p.Gly3094Ter) c.9271G>T (p.Gly3091Ter) c.8767G>T (p.Gly2923Ter) c.8698G>T (p.Gly2900Ter) c.3484G>T (p.Gly1162Ter) c.9334G>T (p.Gly3112Ter) c.9214G>T (p.Gly3072Ter) c.9145G>T (p.Gly3049Ter) c.7549G>T (p.Gly2517Ter) n.9685G>T | |
6 | g.51748207C>G | CA364421131 | PKHD1 | c.9409G>C (p.Gly3137Arg) c.9280G>C (p.Gly3094Arg) c.9271G>C (p.Gly3091Arg) c.8767G>C (p.Gly2923Arg) c.8698G>C (p.Gly2900Arg) c.3484G>C (p.Gly1162Arg) c.9334G>C (p.Gly3112Arg) c.9214G>C (p.Gly3072Arg) c.9145G>C (p.Gly3049Arg) c.7549G>C (p.Gly2517Arg) n.9685G>C | |
6 | g.51748207C>T | CA364421132 | PKHD1 | c.9409G>A (p.Gly3137Arg) c.9280G>A (p.Gly3094Arg) c.9271G>A (p.Gly3091Arg) c.8767G>A (p.Gly2923Arg) c.8698G>A (p.Gly2900Arg) c.3484G>A (p.Gly1162Arg) c.9334G>A (p.Gly3112Arg) c.9214G>A (p.Gly3072Arg) c.9145G>A (p.Gly3049Arg) c.7549G>A (p.Gly2517Arg) n.9685G>A | |
6 | g.51748208A= | CA1628502781 | PKHD1 | c.9408T= (p.Ser3136=) c.9279T= (p.Ser3093=) c.9270T= (p.Ser3090=) c.8766T= (p.Ser2922=) c.8697T= (p.Ser2899=) c.3483T= (p.Ser1161=) c.9333T= (p.Ser3111=) c.9213T= (p.Ser3071=) c.9144T= (p.Ser3048=) c.7548T= (p.Ser2516=) n.9684T= | |
6 | g.51748208A>C | CA364421133 | PKHD1 | c.9408T>G (p.Ser3136Arg) c.9279T>G (p.Ser3093Arg) c.9270T>G (p.Ser3090Arg) c.8766T>G (p.Ser2922Arg) c.8697T>G (p.Ser2899Arg) c.3483T>G (p.Ser1161Arg) c.9333T>G (p.Ser3111Arg) c.9213T>G (p.Ser3071Arg) c.9144T>G (p.Ser3048Arg) c.7548T>G (p.Ser2516Arg) n.9684T>G | dbSNP |
6 | g.51748208A>G | CA450613764 | PKHD1 | c.9408T>C (p.Ser3136=) c.9279T>C (p.Ser3093=) c.9270T>C (p.Ser3090=) c.8766T>C (p.Ser2922=) c.8697T>C (p.Ser2899=) c.3483T>C (p.Ser1161=) c.9333T>C (p.Ser3111=) c.9213T>C (p.Ser3071=) c.9144T>C (p.Ser3048=) c.7548T>C (p.Ser2516=) n.9684T>C | ClinVar dbSNP |
6 | g.51748208A>T | CA364421134 | PKHD1 | c.9408T>A (p.Ser3136Arg) c.9279T>A (p.Ser3093Arg) c.9270T>A (p.Ser3090Arg) c.8766T>A (p.Ser2922Arg) c.8697T>A (p.Ser2899Arg) c.3483T>A (p.Ser1161Arg) c.9333T>A (p.Ser3111Arg) c.9213T>A (p.Ser3071Arg) c.9144T>A (p.Ser3048Arg) c.7548T>A (p.Ser2516Arg) n.9684T>A | |
6 | g.51748209C>A | CA364421135 | PKHD1 | c.9407G>T (p.Ser3136Ile) c.9278G>T (p.Ser3093Ile) c.9269G>T (p.Ser3090Ile) c.8765G>T (p.Ser2922Ile) c.8696G>T (p.Ser2899Ile) c.3482G>T (p.Ser1161Ile) c.9332G>T (p.Ser3111Ile) c.9212G>T (p.Ser3071Ile) c.9143G>T (p.Ser3048Ile) c.7547G>T (p.Ser2516Ile) n.9683G>T | |
6 | g.51748209C>G | CA364421136 | PKHD1 | c.9407G>C (p.Ser3136Thr) c.9278G>C (p.Ser3093Thr) c.9269G>C (p.Ser3090Thr) c.8765G>C (p.Ser2922Thr) c.8696G>C (p.Ser2899Thr) c.3482G>C (p.Ser1161Thr) c.9332G>C (p.Ser3111Thr) c.9212G>C (p.Ser3071Thr) c.9143G>C (p.Ser3048Thr) c.7547G>C (p.Ser2516Thr) n.9683G>C | |
6 | g.51748209C>T | CA364421137 | PKHD1 | c.9407G>A (p.Ser3136Asn) c.9278G>A (p.Ser3093Asn) c.9269G>A (p.Ser3090Asn) c.8765G>A (p.Ser2922Asn) c.8696G>A (p.Ser2899Asn) c.3482G>A (p.Ser1161Asn) c.9332G>A (p.Ser3111Asn) c.9212G>A (p.Ser3071Asn) c.9143G>A (p.Ser3048Asn) c.7547G>A (p.Ser2516Asn) n.9683G>A | |
6 | g.51748210T>A | CA364421140 | PKHD1 | c.9406A>T (p.Ser3136Cys) c.9277A>T (p.Ser3093Cys) c.9268A>T (p.Ser3090Cys) c.8764A>T (p.Ser2922Cys) c.8695A>T (p.Ser2899Cys) c.3481A>T (p.Ser1161Cys) c.9331A>T (p.Ser3111Cys) c.9211A>T (p.Ser3071Cys) c.9142A>T (p.Ser3048Cys) c.7546A>T (p.Ser2516Cys) n.9682A>T | |
6 | g.51748210T>C | CA364421138 | PKHD1 | c.9406A>G (p.Ser3136Gly) c.9277A>G (p.Ser3093Gly) c.9268A>G (p.Ser3090Gly) c.8764A>G (p.Ser2922Gly) c.8695A>G (p.Ser2899Gly) c.3481A>G (p.Ser1161Gly) c.9331A>G (p.Ser3111Gly) c.9211A>G (p.Ser3071Gly) c.9142A>G (p.Ser3048Gly) c.7546A>G (p.Ser2516Gly) n.9682A>G | dbSNP gnomAD v4 |
6 | g.51748210T>G | CA364421139 | PKHD1 | c.9406A>C (p.Ser3136Arg) c.9277A>C (p.Ser3093Arg) c.9268A>C (p.Ser3090Arg) c.8764A>C (p.Ser2922Arg) c.8695A>C (p.Ser2899Arg) c.3481A>C (p.Ser1161Arg) c.9331A>C (p.Ser3111Arg) c.9211A>C (p.Ser3071Arg) c.9142A>C (p.Ser3048Arg) c.7546A>C (p.Ser2516Arg) n.9682A>C | |
6 | g.51748210T= | CA1628502782 | PKHD1 | c.9406A= (p.Ser3136=) c.9277A= (p.Ser3093=) c.9268A= (p.Ser3090=) c.8764A= (p.Ser2922=) c.8695A= (p.Ser2899=) c.3481A= (p.Ser1161=) c.9331A= (p.Ser3111=) c.9211A= (p.Ser3071=) c.9142A= (p.Ser3048=) c.7546A= (p.Ser2516=) n.9682A= | |
6 | g.51748211T>A | CA364421141 | PKHD1 | c.9405A>T (p.Glu3135Asp) c.9276A>T (p.Glu3092Asp) c.9267A>T (p.Glu3089Asp) c.8763A>T (p.Glu2921Asp) c.8694A>T (p.Glu2898Asp) c.3480A>T (p.Glu1160Asp) c.9330A>T (p.Glu3110Asp) c.9210A>T (p.Glu3070Asp) c.9141A>T (p.Glu3047Asp) c.7545A>T (p.Glu2515Asp) n.9681A>T | |
6 | g.51748211T>C | CA450613766 | PKHD1 | c.9405A>G (p.Glu3135=) c.9276A>G (p.Glu3092=) c.9267A>G (p.Glu3089=) c.8763A>G (p.Glu2921=) c.8694A>G (p.Glu2898=) c.3480A>G (p.Glu1160=) c.9330A>G (p.Glu3110=) c.9210A>G (p.Glu3070=) c.9141A>G (p.Glu3047=) c.7545A>G (p.Glu2515=) n.9681A>G | gnomAD v4 |
6 | g.51748211T>G | CA364421142 | PKHD1 | c.9405A>C (p.Glu3135Asp) c.9276A>C (p.Glu3092Asp) c.9267A>C (p.Glu3089Asp) c.8763A>C (p.Glu2921Asp) c.8694A>C (p.Glu2898Asp) c.3480A>C (p.Glu1160Asp) c.9330A>C (p.Glu3110Asp) c.9210A>C (p.Glu3070Asp) c.9141A>C (p.Glu3047Asp) c.7545A>C (p.Glu2515Asp) n.9681A>C | |
6 | g.51748212T>A | CA364421143 | PKHD1 | c.9404A>T (p.Glu3135Val) c.9275A>T (p.Glu3092Val) c.9266A>T (p.Glu3089Val) c.8762A>T (p.Glu2921Val) c.8693A>T (p.Glu2898Val) c.3479A>T (p.Glu1160Val) c.9329A>T (p.Glu3110Val) c.9209A>T (p.Glu3070Val) c.9140A>T (p.Glu3047Val) c.7544A>T (p.Glu2515Val) n.9680A>T | |
6 | g.51748212T>C | CA364421144 | PKHD1 | c.9404A>G (p.Glu3135Gly) c.9275A>G (p.Glu3092Gly) c.9266A>G (p.Glu3089Gly) c.8762A>G (p.Glu2921Gly) c.8693A>G (p.Glu2898Gly) c.3479A>G (p.Glu1160Gly) c.9329A>G (p.Glu3110Gly) c.9209A>G (p.Glu3070Gly) c.9140A>G (p.Glu3047Gly) c.7544A>G (p.Glu2515Gly) n.9680A>G | |
6 | g.51748212T>G | CA138896272 | PKHD1 | c.9404A>C (p.Glu3135Ala) c.9275A>C (p.Glu3092Ala) c.9266A>C (p.Glu3089Ala) c.8762A>C (p.Glu2921Ala) c.8693A>C (p.Glu2898Ala) c.3479A>C (p.Glu1160Ala) c.9329A>C (p.Glu3110Ala) c.9209A>C (p.Glu3070Ala) c.9140A>C (p.Glu3047Ala) c.7544A>C (p.Glu2515Ala) n.9680A>C | dbSNP |
6 | g.51748212T= | CA1628502783 | PKHD1 | c.9404A= (p.Glu3135=) c.9275A= (p.Glu3092=) c.9266A= (p.Glu3089=) c.8762A= (p.Glu2921=) c.8693A= (p.Glu2898=) c.3479A= (p.Glu1160=) c.9329A= (p.Glu3110=) c.9209A= (p.Glu3070=) c.9140A= (p.Glu3047=) c.7544A= (p.Glu2515=) n.9680A= | |
6 | g.51748213C>A | CA364421145 | PKHD1 | c.9403G>T (p.Glu3135Ter) c.9274G>T (p.Glu3092Ter) c.9265G>T (p.Glu3089Ter) c.8761G>T (p.Glu2921Ter) c.8692G>T (p.Glu2898Ter) c.3478G>T (p.Glu1160Ter) c.9328G>T (p.Glu3110Ter) c.9208G>T (p.Glu3070Ter) c.9139G>T (p.Glu3047Ter) c.7543G>T (p.Glu2515Ter) n.9679G>T | |
6 | g.51748213C>G | CA364421146 | PKHD1 | c.9403G>C (p.Glu3135Gln) c.9274G>C (p.Glu3092Gln) c.9265G>C (p.Glu3089Gln) c.8761G>C (p.Glu2921Gln) c.8692G>C (p.Glu2898Gln) c.3478G>C (p.Glu1160Gln) c.9328G>C (p.Glu3110Gln) c.9208G>C (p.Glu3070Gln) c.9139G>C (p.Glu3047Gln) c.7543G>C (p.Glu2515Gln) n.9679G>C | |
6 | g.51748213C>T | CA364421147 | PKHD1 | c.9403G>A (p.Glu3135Lys) c.9274G>A (p.Glu3092Lys) c.9265G>A (p.Glu3089Lys) c.8761G>A (p.Glu2921Lys) c.8692G>A (p.Glu2898Lys) c.3478G>A (p.Glu1160Lys) c.9328G>A (p.Glu3110Lys) c.9208G>A (p.Glu3070Lys) c.9139G>A (p.Glu3047Lys) c.7543G>A (p.Glu2515Lys) n.9679G>A | COSMIC COSMIC |
6 | g.51748214C>A | CA364421148 | PKHD1 | c.9402G>T (p.Lys3134Asn) c.9273G>T (p.Lys3091Asn) c.9264G>T (p.Lys3088Asn) c.8760G>T (p.Lys2920Asn) c.8691G>T (p.Lys2897Asn) c.3477G>T (p.Lys1159Asn) c.9327G>T (p.Lys3109Asn) c.9207G>T (p.Lys3069Asn) c.9138G>T (p.Lys3046Asn) c.7542G>T (p.Lys2514Asn) n.9678G>T | dbSNP gnomAD v4 |
6 | g.51748214C= | CA1628502788 | PKHD1 | c.9402G= (p.Lys3134=) c.9273G= (p.Lys3091=) c.9264G= (p.Lys3088=) c.8760G= (p.Lys2920=) c.8691G= (p.Lys2897=) c.3477G= (p.Lys1159=) c.9327G= (p.Lys3109=) c.9207G= (p.Lys3069=) c.9138G= (p.Lys3046=) c.7542G= (p.Lys2514=) n.9678G= | |
6 | g.51748214C>G | CA364421149 | PKHD1 | c.9402G>C (p.Lys3134Asn) c.9273G>C (p.Lys3091Asn) c.9264G>C (p.Lys3088Asn) c.8760G>C (p.Lys2920Asn) c.8691G>C (p.Lys2897Asn) c.3477G>C (p.Lys1159Asn) c.9327G>C (p.Lys3109Asn) c.9207G>C (p.Lys3069Asn) c.9138G>C (p.Lys3046Asn) c.7542G>C (p.Lys2514Asn) n.9678G>C | |
6 | g.51748214C>T | CA3851394 | PKHD1 | c.9402G>A (p.Lys3134=) c.9273G>A (p.Lys3091=) c.9264G>A (p.Lys3088=) c.8760G>A (p.Lys2920=) c.8691G>A (p.Lys2897=) c.3477G>A (p.Lys1159=) c.9327G>A (p.Lys3109=) c.9207G>A (p.Lys3069=) c.9138G>A (p.Lys3046=) c.7542G>A (p.Lys2514=) n.9678G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748215T>A | CA364421151 | PKHD1 | c.9401A>T (p.Lys3134Met) c.9272A>T (p.Lys3091Met) c.9263A>T (p.Lys3088Met) c.8759A>T (p.Lys2920Met) c.8690A>T (p.Lys2897Met) c.3476A>T (p.Lys1159Met) c.9326A>T (p.Lys3109Met) c.9206A>T (p.Lys3069Met) c.9137A>T (p.Lys3046Met) c.7541A>T (p.Lys2514Met) n.9677A>T | |
6 | g.51748215T>C | CA364421152 | PKHD1 | c.9401A>G (p.Lys3134Arg) c.9272A>G (p.Lys3091Arg) c.9263A>G (p.Lys3088Arg) c.8759A>G (p.Lys2920Arg) c.8690A>G (p.Lys2897Arg) c.3476A>G (p.Lys1159Arg) c.9326A>G (p.Lys3109Arg) c.9206A>G (p.Lys3069Arg) c.9137A>G (p.Lys3046Arg) c.7541A>G (p.Lys2514Arg) n.9677A>G | |
6 | g.51748215T>G | CA364421150 | PKHD1 | c.9401A>C (p.Lys3134Thr) c.9272A>C (p.Lys3091Thr) c.9263A>C (p.Lys3088Thr) c.8759A>C (p.Lys2920Thr) c.8690A>C (p.Lys2897Thr) c.3476A>C (p.Lys1159Thr) c.9326A>C (p.Lys3109Thr) c.9206A>C (p.Lys3069Thr) c.9137A>C (p.Lys3046Thr) c.7541A>C (p.Lys2514Thr) n.9677A>C | |
6 | g.51748216T>A | CA364421155 | PKHD1 | c.9400A>T (p.Lys3134Ter) c.9271A>T (p.Lys3091Ter) c.9262A>T (p.Lys3088Ter) c.8758A>T (p.Lys2920Ter) c.8689A>T (p.Lys2897Ter) c.3475A>T (p.Lys1159Ter) c.9325A>T (p.Lys3109Ter) c.9205A>T (p.Lys3069Ter) c.9136A>T (p.Lys3046Ter) c.7540A>T (p.Lys2514Ter) n.9676A>T | |
6 | g.51748216T>C | CA364421153 | PKHD1 | c.9400A>G (p.Lys3134Glu) c.9271A>G (p.Lys3091Glu) c.9262A>G (p.Lys3088Glu) c.8758A>G (p.Lys2920Glu) c.8689A>G (p.Lys2897Glu) c.3475A>G (p.Lys1159Glu) c.9325A>G (p.Lys3109Glu) c.9205A>G (p.Lys3069Glu) c.9136A>G (p.Lys3046Glu) c.7540A>G (p.Lys2514Glu) n.9676A>G | ClinVar dbSNP |
6 | g.51748216T>G | CA364421154 | PKHD1 | c.9400A>C (p.Lys3134Gln) c.9271A>C (p.Lys3091Gln) c.9262A>C (p.Lys3088Gln) c.8758A>C (p.Lys2920Gln) c.8689A>C (p.Lys2897Gln) c.3475A>C (p.Lys1159Gln) c.9325A>C (p.Lys3109Gln) c.9205A>C (p.Lys3069Gln) c.9136A>C (p.Lys3046Gln) c.7540A>C (p.Lys2514Gln) n.9676A>C | |
6 | g.51748217A>C | CA364421156 | PKHD1 | c.9399T>G (p.Tyr3133Ter) c.9270T>G (p.Tyr3090Ter) c.9261T>G (p.Tyr3087Ter) c.8757T>G (p.Tyr2919Ter) c.8688T>G (p.Tyr2896Ter) c.3474T>G (p.Tyr1158Ter) c.9324T>G (p.Tyr3108Ter) c.9204T>G (p.Tyr3068Ter) c.9135T>G (p.Tyr3045Ter) c.7539T>G (p.Tyr2513Ter) n.9675T>G | |
6 | g.51748217A>G | CA450613772 | PKHD1 | c.9399T>C (p.Tyr3133=) c.9270T>C (p.Tyr3090=) c.9261T>C (p.Tyr3087=) c.8757T>C (p.Tyr2919=) c.8688T>C (p.Tyr2896=) c.3474T>C (p.Tyr1158=) c.9324T>C (p.Tyr3108=) c.9204T>C (p.Tyr3068=) c.9135T>C (p.Tyr3045=) c.7539T>C (p.Tyr2513=) n.9675T>C | |
6 | g.51748217A>T | CA364421157 | PKHD1 | c.9399T>A (p.Tyr3133Ter) c.9270T>A (p.Tyr3090Ter) c.9261T>A (p.Tyr3087Ter) c.8757T>A (p.Tyr2919Ter) c.8688T>A (p.Tyr2896Ter) c.3474T>A (p.Tyr1158Ter) c.9324T>A (p.Tyr3108Ter) c.9204T>A (p.Tyr3068Ter) c.9135T>A (p.Tyr3045Ter) c.7539T>A (p.Tyr2513Ter) n.9675T>A | |
6 | g.51748218T>A | CA364421158 | PKHD1 | c.9398A>T (p.Tyr3133Phe) c.9269A>T (p.Tyr3090Phe) c.9260A>T (p.Tyr3087Phe) c.8756A>T (p.Tyr2919Phe) c.8687A>T (p.Tyr2896Phe) c.3473A>T (p.Tyr1158Phe) c.9323A>T (p.Tyr3108Phe) c.9203A>T (p.Tyr3068Phe) c.9134A>T (p.Tyr3045Phe) c.7538A>T (p.Tyr2513Phe) n.9674A>T | gnomAD v4 |
6 | g.51748218T>C | CA3851395 | PKHD1 | c.9398A>G (p.Tyr3133Cys) c.9269A>G (p.Tyr3090Cys) c.9260A>G (p.Tyr3087Cys) c.8756A>G (p.Tyr2919Cys) c.8687A>G (p.Tyr2896Cys) c.3473A>G (p.Tyr1158Cys) c.9323A>G (p.Tyr3108Cys) c.9203A>G (p.Tyr3068Cys) c.9134A>G (p.Tyr3045Cys) c.7538A>G (p.Tyr2513Cys) n.9674A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748218T>G | CA364421159 | PKHD1 | c.9398A>C (p.Tyr3133Ser) c.9269A>C (p.Tyr3090Ser) c.9260A>C (p.Tyr3087Ser) c.8756A>C (p.Tyr2919Ser) c.8687A>C (p.Tyr2896Ser) c.3473A>C (p.Tyr1158Ser) c.9323A>C (p.Tyr3108Ser) c.9203A>C (p.Tyr3068Ser) c.9134A>C (p.Tyr3045Ser) c.7538A>C (p.Tyr2513Ser) n.9674A>C | dbSNP |
6 | g.51748218T= | CA1628502792 | PKHD1 | c.9398A= (p.Tyr3133=) c.9269A= (p.Tyr3090=) c.9260A= (p.Tyr3087=) c.8756A= (p.Tyr2919=) c.8687A= (p.Tyr2896=) c.3473A= (p.Tyr1158=) c.9323A= (p.Tyr3108=) c.9203A= (p.Tyr3068=) c.9134A= (p.Tyr3045=) c.7538A= (p.Tyr2513=) n.9674A= | |
6 | g.51748219A>C | CA364421160 | PKHD1 | c.9397T>G (p.Tyr3133Asp) c.9268T>G (p.Tyr3090Asp) c.9259T>G (p.Tyr3087Asp) c.8755T>G (p.Tyr2919Asp) c.8686T>G (p.Tyr2896Asp) c.3472T>G (p.Tyr1158Asp) c.9322T>G (p.Tyr3108Asp) c.9202T>G (p.Tyr3068Asp) c.9133T>G (p.Tyr3045Asp) c.7537T>G (p.Tyr2513Asp) n.9673T>G | gnomAD v4 |
6 | g.51748219A>G | CA364421161 | PKHD1 | c.9397T>C (p.Tyr3133His) c.9268T>C (p.Tyr3090His) c.9259T>C (p.Tyr3087His) c.8755T>C (p.Tyr2919His) c.8686T>C (p.Tyr2896His) c.3472T>C (p.Tyr1158His) c.9322T>C (p.Tyr3108His) c.9202T>C (p.Tyr3068His) c.9133T>C (p.Tyr3045His) c.7537T>C (p.Tyr2513His) n.9673T>C | COSMIC |
6 | g.51748219A>T | CA364421162 | PKHD1 | c.9397T>A (p.Tyr3133Asn) c.9268T>A (p.Tyr3090Asn) c.9259T>A (p.Tyr3087Asn) c.8755T>A (p.Tyr2919Asn) c.8686T>A (p.Tyr2896Asn) c.3472T>A (p.Tyr1158Asn) c.9322T>A (p.Tyr3108Asn) c.9202T>A (p.Tyr3068Asn) c.9133T>A (p.Tyr3045Asn) c.7537T>A (p.Tyr2513Asn) n.9673T>A | |
6 | g.51748220G>A | CA450613778 | PKHD1 | c.9396C>T (p.Leu3132=) c.9267C>T (p.Leu3089=) c.9258C>T (p.Leu3086=) c.8754C>T (p.Leu2918=) c.8685C>T (p.Leu2895=) c.3471C>T (p.Leu1157=) c.9321C>T (p.Leu3107=) c.9201C>T (p.Leu3067=) c.9132C>T (p.Leu3044=) c.7536C>T (p.Leu2512=) n.9672C>T | ClinVar gnomAD v4 |
6 | g.51748220G>C | CA450613777 | PKHD1 | c.9396C>G (p.Leu3132=) c.9267C>G (p.Leu3089=) c.9258C>G (p.Leu3086=) c.8754C>G (p.Leu2918=) c.8685C>G (p.Leu2895=) c.3471C>G (p.Leu1157=) c.9321C>G (p.Leu3107=) c.9201C>G (p.Leu3067=) c.9132C>G (p.Leu3044=) c.7536C>G (p.Leu2512=) n.9672C>G | ClinVar dbSNP |
6 | g.51748220G>T | CA450613776 | PKHD1 | c.9396C>A (p.Leu3132=) c.9267C>A (p.Leu3089=) c.9258C>A (p.Leu3086=) c.8754C>A (p.Leu2918=) c.8685C>A (p.Leu2895=) c.3471C>A (p.Leu1157=) c.9321C>A (p.Leu3107=) c.9201C>A (p.Leu3067=) c.9132C>A (p.Leu3044=) c.7536C>A (p.Leu2512=) n.9672C>A | |
6 | g.51748221A>C | CA364421163 | PKHD1 | c.9395T>G (p.Leu3132Arg) c.9266T>G (p.Leu3089Arg) c.9257T>G (p.Leu3086Arg) c.8753T>G (p.Leu2918Arg) c.8684T>G (p.Leu2895Arg) c.3470T>G (p.Leu1157Arg) c.9320T>G (p.Leu3107Arg) c.9200T>G (p.Leu3067Arg) c.9131T>G (p.Leu3044Arg) c.7535T>G (p.Leu2512Arg) n.9671T>G | |
6 | g.51748221A>G | CA364421164 | PKHD1 | c.9395T>C (p.Leu3132Pro) c.9266T>C (p.Leu3089Pro) c.9257T>C (p.Leu3086Pro) c.8753T>C (p.Leu2918Pro) c.8684T>C (p.Leu2895Pro) c.3470T>C (p.Leu1157Pro) c.9320T>C (p.Leu3107Pro) c.9200T>C (p.Leu3067Pro) c.9131T>C (p.Leu3044Pro) c.7535T>C (p.Leu2512Pro) n.9671T>C | |
6 | g.51748221A>T | CA364421165 | PKHD1 | c.9395T>A (p.Leu3132His) c.9266T>A (p.Leu3089His) c.9257T>A (p.Leu3086His) c.8753T>A (p.Leu2918His) c.8684T>A (p.Leu2895His) c.3470T>A (p.Leu1157His) c.9320T>A (p.Leu3107His) c.9200T>A (p.Leu3067His) c.9131T>A (p.Leu3044His) c.7535T>A (p.Leu2512His) n.9671T>A | gnomAD v4 |
6 | g.51748222G>A | CA364421168 | PKHD1 | c.9394C>T (p.Leu3132Phe) c.9265C>T (p.Leu3089Phe) c.9256C>T (p.Leu3086Phe) c.8752C>T (p.Leu2918Phe) c.8683C>T (p.Leu2895Phe) c.3469C>T (p.Leu1157Phe) c.9319C>T (p.Leu3107Phe) c.9199C>T (p.Leu3067Phe) c.9130C>T (p.Leu3044Phe) c.7534C>T (p.Leu2512Phe) n.9670C>T | |
6 | g.51748222G>C | CA364421166 | PKHD1 | c.9394C>G (p.Leu3132Val) c.9265C>G (p.Leu3089Val) c.9256C>G (p.Leu3086Val) c.8752C>G (p.Leu2918Val) c.8683C>G (p.Leu2895Val) c.3469C>G (p.Leu1157Val) c.9319C>G (p.Leu3107Val) c.9199C>G (p.Leu3067Val) c.9130C>G (p.Leu3044Val) c.7534C>G (p.Leu2512Val) n.9670C>G | |
6 | g.51748222G>T | CA364421167 | PKHD1 | c.9394C>A (p.Leu3132Ile) c.9265C>A (p.Leu3089Ile) c.9256C>A (p.Leu3086Ile) c.8752C>A (p.Leu2918Ile) c.8683C>A (p.Leu2895Ile) c.3469C>A (p.Leu1157Ile) c.9319C>A (p.Leu3107Ile) c.9199C>A (p.Leu3067Ile) c.9130C>A (p.Leu3044Ile) c.7534C>A (p.Leu2512Ile) n.9670C>A | |
6 | g.51748223A= | CA1628502797 | PKHD1 | c.9393T= (p.His3131=) c.9264T= (p.His3088=) c.9255T= (p.His3085=) c.8751T= (p.His2917=) c.8682T= (p.His2894=) c.3468T= (p.His1156=) c.9318T= (p.His3106=) c.9198T= (p.His3066=) c.9129T= (p.His3043=) c.7533T= (p.His2511=) n.9669T= | |
6 | g.51748223A>C | CA364421169 | PKHD1 | c.9393T>G (p.His3131Gln) c.9264T>G (p.His3088Gln) c.9255T>G (p.His3085Gln) c.8751T>G (p.His2917Gln) c.8682T>G (p.His2894Gln) c.3468T>G (p.His1156Gln) c.9318T>G (p.His3106Gln) c.9198T>G (p.His3066Gln) c.9129T>G (p.His3043Gln) c.7533T>G (p.His2511Gln) n.9669T>G | |
6 | g.51748223A>G | CA450613782 | PKHD1 | c.9393T>C (p.His3131=) c.9264T>C (p.His3088=) c.9255T>C (p.His3085=) c.8751T>C (p.His2917=) c.8682T>C (p.His2894=) c.3468T>C (p.His1156=) c.9318T>C (p.His3106=) c.9198T>C (p.His3066=) c.9129T>C (p.His3043=) c.7533T>C (p.His2511=) n.9669T>C | |
6 | g.51748223A>T | CA364421170 | PKHD1 | c.9393T>A (p.His3131Gln) c.9264T>A (p.His3088Gln) c.9255T>A (p.His3085Gln) c.8751T>A (p.His2917Gln) c.8682T>A (p.His2894Gln) c.3468T>A (p.His1156Gln) c.9318T>A (p.His3106Gln) c.9198T>A (p.His3066Gln) c.9129T>A (p.His3043Gln) c.7533T>A (p.His2511Gln) n.9669T>A | dbSNP |
6 | g.51748224T>A | CA364421171 | PKHD1 | c.9392A>T (p.His3131Leu) c.9263A>T (p.His3088Leu) c.9254A>T (p.His3085Leu) c.8750A>T (p.His2917Leu) c.8681A>T (p.His2894Leu) c.3467A>T (p.His1156Leu) c.9317A>T (p.His3106Leu) c.9197A>T (p.His3066Leu) c.9128A>T (p.His3043Leu) c.7532A>T (p.His2511Leu) n.9668A>T | |
6 | g.51748224T>C | CA364421172 | PKHD1 | c.9392A>G (p.His3131Arg) c.9263A>G (p.His3088Arg) c.9254A>G (p.His3085Arg) c.8750A>G (p.His2917Arg) c.8681A>G (p.His2894Arg) c.3467A>G (p.His1156Arg) c.9317A>G (p.His3106Arg) c.9197A>G (p.His3066Arg) c.9128A>G (p.His3043Arg) c.7532A>G (p.His2511Arg) n.9668A>G | |
6 | g.51748224T>G | CA364421173 | PKHD1 | c.9392A>C (p.His3131Pro) c.9263A>C (p.His3088Pro) c.9254A>C (p.His3085Pro) c.8750A>C (p.His2917Pro) c.8681A>C (p.His2894Pro) c.3467A>C (p.His1156Pro) c.9317A>C (p.His3106Pro) c.9197A>C (p.His3066Pro) c.9128A>C (p.His3043Pro) c.7532A>C (p.His2511Pro) n.9668A>C | |
6 | g.51748225G>A | CA10605667 | PKHD1 | c.9391C>T (p.His3131Tyr) c.9262C>T (p.His3088Tyr) c.9253C>T (p.His3085Tyr) c.8749C>T (p.His2917Tyr) c.8680C>T (p.His2894Tyr) c.3466C>T (p.His1156Tyr) c.9316C>T (p.His3106Tyr) c.9196C>T (p.His3066Tyr) c.9127C>T (p.His3043Tyr) c.7531C>T (p.His2511Tyr) n.9667C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
6 | g.51748225G>C | CA364421174 | PKHD1 | c.9391C>G (p.His3131Asp) c.9262C>G (p.His3088Asp) c.9253C>G (p.His3085Asp) c.8749C>G (p.His2917Asp) c.8680C>G (p.His2894Asp) c.3466C>G (p.His1156Asp) c.9316C>G (p.His3106Asp) c.9196C>G (p.His3066Asp) c.9127C>G (p.His3043Asp) c.7531C>G (p.His2511Asp) n.9667C>G | |
6 | g.51748225G= | CA1628502805 | PKHD1 | c.9391C= (p.His3131=) c.9262C= (p.His3088=) c.9253C= (p.His3085=) c.8749C= (p.His2917=) c.8680C= (p.His2894=) c.3466C= (p.His1156=) c.9316C= (p.His3106=) c.9196C= (p.His3066=) c.9127C= (p.His3043=) c.7531C= (p.His2511=) n.9667C= | |
6 | g.51748225G>T | CA364421175 | PKHD1 | c.9391C>A (p.His3131Asn) c.9262C>A (p.His3088Asn) c.9253C>A (p.His3085Asn) c.8749C>A (p.His2917Asn) c.8680C>A (p.His2894Asn) c.3466C>A (p.His1156Asn) c.9316C>A (p.His3106Asn) c.9196C>A (p.His3066Asn) c.9127C>A (p.His3043Asn) c.7531C>A (p.His2511Asn) n.9667C>A | |
6 | g.51748226A>C | CA450613784 | PKHD1 | c.9390T>G (p.Leu3130=) c.9261T>G (p.Leu3087=) c.9252T>G (p.Leu3084=) c.8748T>G (p.Leu2916=) c.8679T>G (p.Leu2893=) c.3465T>G (p.Leu1155=) c.9315T>G (p.Leu3105=) c.9195T>G (p.Leu3065=) c.9126T>G (p.Leu3042=) c.7530T>G (p.Leu2510=) n.9666T>G | |
6 | g.51748226A>G | CA450613785 | PKHD1 | c.9390T>C (p.Leu3130=) c.9261T>C (p.Leu3087=) c.9252T>C (p.Leu3084=) c.8748T>C (p.Leu2916=) c.8679T>C (p.Leu2893=) c.3465T>C (p.Leu1155=) c.9315T>C (p.Leu3105=) c.9195T>C (p.Leu3065=) c.9126T>C (p.Leu3042=) c.7530T>C (p.Leu2510=) n.9666T>C | |
6 | g.51748226A>T | CA450613786 | PKHD1 | c.9390T>A (p.Leu3130=) c.9261T>A (p.Leu3087=) c.9252T>A (p.Leu3084=) c.8748T>A (p.Leu2916=) c.8679T>A (p.Leu2893=) c.3465T>A (p.Leu1155=) c.9315T>A (p.Leu3105=) c.9195T>A (p.Leu3065=) c.9126T>A (p.Leu3042=) c.7530T>A (p.Leu2510=) n.9666T>A | |
6 | g.51748227A>C | CA364421176 | PKHD1 | c.9389T>G (p.Leu3130Arg) c.9260T>G (p.Leu3087Arg) c.9251T>G (p.Leu3084Arg) c.8747T>G (p.Leu2916Arg) c.8678T>G (p.Leu2893Arg) c.3464T>G (p.Leu1155Arg) c.9314T>G (p.Leu3105Arg) c.9194T>G (p.Leu3065Arg) c.9125T>G (p.Leu3042Arg) c.7529T>G (p.Leu2510Arg) n.9665T>G | |
6 | g.51748227A>G | CA364421177 | PKHD1 | c.9389T>C (p.Leu3130Pro) c.9260T>C (p.Leu3087Pro) c.9251T>C (p.Leu3084Pro) c.8747T>C (p.Leu2916Pro) c.8678T>C (p.Leu2893Pro) c.3464T>C (p.Leu1155Pro) c.9314T>C (p.Leu3105Pro) c.9194T>C (p.Leu3065Pro) c.9125T>C (p.Leu3042Pro) c.7529T>C (p.Leu2510Pro) n.9665T>C | |
6 | g.51748227A>T | CA364421178 | PKHD1 | c.9389T>A (p.Leu3130His) c.9260T>A (p.Leu3087His) c.9251T>A (p.Leu3084His) c.8747T>A (p.Leu2916His) c.8678T>A (p.Leu2893His) c.3464T>A (p.Leu1155His) c.9314T>A (p.Leu3105His) c.9194T>A (p.Leu3065His) c.9125T>A (p.Leu3042His) c.7529T>A (p.Leu2510His) n.9665T>A | |
6 | g.51748228G>A | CA364421181 | PKHD1 | c.9388C>T (p.Leu3130Phe) c.9259C>T (p.Leu3087Phe) c.9250C>T (p.Leu3084Phe) c.8746C>T (p.Leu2916Phe) c.8677C>T (p.Leu2893Phe) c.3463C>T (p.Leu1155Phe) c.9313C>T (p.Leu3105Phe) c.9193C>T (p.Leu3065Phe) c.9124C>T (p.Leu3042Phe) c.7528C>T (p.Leu2510Phe) n.9664C>T | |
6 | g.51748228G>C | CA364421180 | PKHD1 | c.9388C>G (p.Leu3130Val) c.9259C>G (p.Leu3087Val) c.9250C>G (p.Leu3084Val) c.8746C>G (p.Leu2916Val) c.8677C>G (p.Leu2893Val) c.3463C>G (p.Leu1155Val) c.9313C>G (p.Leu3105Val) c.9193C>G (p.Leu3065Val) c.9124C>G (p.Leu3042Val) c.7528C>G (p.Leu2510Val) n.9664C>G | |
6 | g.51748228G>T | CA364421179 | PKHD1 | c.9388C>A (p.Leu3130Ile) c.9259C>A (p.Leu3087Ile) c.9250C>A (p.Leu3084Ile) c.8746C>A (p.Leu2916Ile) c.8677C>A (p.Leu2893Ile) c.3463C>A (p.Leu1155Ile) c.9313C>A (p.Leu3105Ile) c.9193C>A (p.Leu3065Ile) c.9124C>A (p.Leu3042Ile) c.7528C>A (p.Leu2510Ile) n.9664C>A | |
6 | g.51748229G>A | CA3851396 | PKHD1 | c.9387C>T (p.Gly3129=) c.9258C>T (p.Gly3086=) c.9249C>T (p.Gly3083=) c.8745C>T (p.Gly2915=) c.8676C>T (p.Gly2892=) c.3462C>T (p.Gly1154=) c.9312C>T (p.Gly3104=) c.9192C>T (p.Gly3064=) c.9123C>T (p.Gly3041=) c.7527C>T (p.Gly2509=) n.9663C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748229G>C | CA450613788 | PKHD1 | c.9387C>G (p.Gly3129=) c.9258C>G (p.Gly3086=) c.9249C>G (p.Gly3083=) c.8745C>G (p.Gly2915=) c.8676C>G (p.Gly2892=) c.3462C>G (p.Gly1154=) c.9312C>G (p.Gly3104=) c.9192C>G (p.Gly3064=) c.9123C>G (p.Gly3041=) c.7527C>G (p.Gly2509=) n.9663C>G | |
6 | g.51748229G= | CA1628502812 | PKHD1 | c.9387C= (p.Gly3129=) c.9258C= (p.Gly3086=) c.9249C= (p.Gly3083=) c.8745C= (p.Gly2915=) c.8676C= (p.Gly2892=) c.3462C= (p.Gly1154=) c.9312C= (p.Gly3104=) c.9192C= (p.Gly3064=) c.9123C= (p.Gly3041=) c.7527C= (p.Gly2509=) n.9663C= | |
6 | g.51748229G>T | CA450613789 | PKHD1 | c.9387C>A (p.Gly3129=) c.9258C>A (p.Gly3086=) c.9249C>A (p.Gly3083=) c.8745C>A (p.Gly2915=) c.8676C>A (p.Gly2892=) c.3462C>A (p.Gly1154=) c.9312C>A (p.Gly3104=) c.9192C>A (p.Gly3064=) c.9123C>A (p.Gly3041=) c.7527C>A (p.Gly2509=) n.9663C>A | COSMIC COSMIC |
6 | g.51748229_51748230delinsGC | CA1628502814 | PKHD1 | c.9386_9387delinsGC (p.Gly3129=) c.9257_9258delinsGC (p.Gly3086=) c.9248_9249delinsGC (p.Gly3083=) c.8744_8745delinsGC (p.Gly2915=) c.8675_8676delinsGC (p.Gly2892=) c.3461_3462delinsGC (p.Gly1154=) c.9311_9312delinsGC (p.Gly3104=) c.9191_9192delinsGC (p.Gly3064=) c.9122_9123delinsGC (p.Gly3041=) c.7526_7527delinsGC (p.Gly2509=) n.9662_9663delinsGC | |
6 | g.51748230C>A | CA364421182 | PKHD1 | c.9386G>T (p.Gly3129Val) c.9257G>T (p.Gly3086Val) c.9248G>T (p.Gly3083Val) c.8744G>T (p.Gly2915Val) c.8675G>T (p.Gly2892Val) c.3461G>T (p.Gly1154Val) c.9311G>T (p.Gly3104Val) c.9191G>T (p.Gly3064Val) c.9122G>T (p.Gly3041Val) c.7526G>T (p.Gly2509Val) n.9662G>T | |
6 | g.51748230C>G | CA364421183 | PKHD1 | c.9386G>C (p.Gly3129Ala) c.9257G>C (p.Gly3086Ala) c.9248G>C (p.Gly3083Ala) c.8744G>C (p.Gly2915Ala) c.8675G>C (p.Gly2892Ala) c.3461G>C (p.Gly1154Ala) c.9311G>C (p.Gly3104Ala) c.9191G>C (p.Gly3064Ala) c.9122G>C (p.Gly3041Ala) c.7526G>C (p.Gly2509Ala) n.9662G>C | |
6 | g.51748230C>T | CA364421184 | PKHD1 | c.9386G>A (p.Gly3129Asp) c.9257G>A (p.Gly3086Asp) c.9248G>A (p.Gly3083Asp) c.8744G>A (p.Gly2915Asp) c.8675G>A (p.Gly2892Asp) c.3461G>A (p.Gly1154Asp) c.9311G>A (p.Gly3104Asp) c.9191G>A (p.Gly3064Asp) c.9122G>A (p.Gly3041Asp) c.7526G>A (p.Gly2509Asp) n.9662G>A | |
6 | g.51748231del | CA1139659316 | PKHD1 | c.9386del (p.Gly3129AlafsTer?) c.9257del (p.Gly3086AlafsTer?) c.9248del (p.Gly3083AlafsTer?) c.8744del (p.Gly2915AlafsTer?) c.8675del (p.Gly2892AlafsTer?) c.3461del (p.Gly1154AlafsTer?) c.9311del (p.Gly3104AlafsTer?) c.9191del (p.Gly3064AlafsTer?) c.9122del (p.Gly3041AlafsTer?) c.7526del (p.Gly2509AlafsTer?) n.9662del | ClinVar dbSNP |
6 | g.51748231C>A | CA364421185 | PKHD1 | c.9385G>T (p.Gly3129Cys) c.9256G>T (p.Gly3086Cys) c.9247G>T (p.Gly3083Cys) c.8743G>T (p.Gly2915Cys) c.8674G>T (p.Gly2892Cys) c.3460G>T (p.Gly1154Cys) c.9310G>T (p.Gly3104Cys) c.9190G>T (p.Gly3064Cys) c.9121G>T (p.Gly3041Cys) c.7525G>T (p.Gly2509Cys) n.9661G>T | |
6 | g.51748231C>G | CA364421186 | PKHD1 | c.9385G>C (p.Gly3129Arg) c.9256G>C (p.Gly3086Arg) c.9247G>C (p.Gly3083Arg) c.8743G>C (p.Gly2915Arg) c.8674G>C (p.Gly2892Arg) c.3460G>C (p.Gly1154Arg) c.9310G>C (p.Gly3104Arg) c.9190G>C (p.Gly3064Arg) c.9121G>C (p.Gly3041Arg) c.7525G>C (p.Gly2509Arg) n.9661G>C | |
6 | g.51748231C>T | CA364421187 | PKHD1 | c.9385G>A (p.Gly3129Ser) c.9256G>A (p.Gly3086Ser) c.9247G>A (p.Gly3083Ser) c.8743G>A (p.Gly2915Ser) c.8674G>A (p.Gly2892Ser) c.3460G>A (p.Gly1154Ser) c.9310G>A (p.Gly3104Ser) c.9190G>A (p.Gly3064Ser) c.9121G>A (p.Gly3041Ser) c.7525G>A (p.Gly2509Ser) n.9661G>A |