Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.51748584G>A | CA364424123 | PKHD1 | c.9032C>T (p.Ala3011Val) c.8903C>T (p.Ala2968Val) c.8894C>T (p.Ala2965Val) c.8390C>T (p.Ala2797Val) c.8321C>T (p.Ala2774Val) c.3107C>T (p.Ala1036Val) c.8957C>T (p.Ala2986Val) c.8837C>T (p.Ala2946Val) c.8768C>T (p.Ala2923Val) c.7172C>T (p.Ala2391Val) n.9308C>T | COSMIC COSMIC |
6 | g.51748584G>C | CA364424127 | PKHD1 | c.9032C>G (p.Ala3011Gly) c.8903C>G (p.Ala2968Gly) c.8894C>G (p.Ala2965Gly) c.8390C>G (p.Ala2797Gly) c.8321C>G (p.Ala2774Gly) c.3107C>G (p.Ala1036Gly) c.8957C>G (p.Ala2986Gly) c.8837C>G (p.Ala2946Gly) c.8768C>G (p.Ala2923Gly) c.7172C>G (p.Ala2391Gly) n.9308C>G | gnomAD v4 |
6 | g.51748584G>T | CA364424125 | PKHD1 | c.9032C>A (p.Ala3011Glu) c.8903C>A (p.Ala2968Glu) c.8894C>A (p.Ala2965Glu) c.8390C>A (p.Ala2797Glu) c.8321C>A (p.Ala2774Glu) c.3107C>A (p.Ala1036Glu) c.8957C>A (p.Ala2986Glu) c.8837C>A (p.Ala2946Glu) c.8768C>A (p.Ala2923Glu) c.7172C>A (p.Ala2391Glu) n.9308C>A | gnomAD v4 |
6 | g.51748585C>A | CA364424129 | PKHD1 | c.9031G>T (p.Ala3011Ser) c.8902G>T (p.Ala2968Ser) c.8893G>T (p.Ala2965Ser) c.8389G>T (p.Ala2797Ser) c.8320G>T (p.Ala2774Ser) c.3106G>T (p.Ala1036Ser) c.8956G>T (p.Ala2986Ser) c.8836G>T (p.Ala2946Ser) c.8767G>T (p.Ala2923Ser) c.7171G>T (p.Ala2391Ser) n.9307G>T | |
6 | g.51748585C>G | CA364424130 | PKHD1 | c.9031G>C (p.Ala3011Pro) c.8902G>C (p.Ala2968Pro) c.8893G>C (p.Ala2965Pro) c.8389G>C (p.Ala2797Pro) c.8320G>C (p.Ala2774Pro) c.3106G>C (p.Ala1036Pro) c.8956G>C (p.Ala2986Pro) c.8836G>C (p.Ala2946Pro) c.8767G>C (p.Ala2923Pro) c.7171G>C (p.Ala2391Pro) n.9307G>C | |
6 | g.51748585C>T | CA364424132 | PKHD1 | c.9031G>A (p.Ala3011Thr) c.8902G>A (p.Ala2968Thr) c.8893G>A (p.Ala2965Thr) c.8389G>A (p.Ala2797Thr) c.8320G>A (p.Ala2774Thr) c.3106G>A (p.Ala1036Thr) c.8956G>A (p.Ala2986Thr) c.8836G>A (p.Ala2946Thr) c.8767G>A (p.Ala2923Thr) c.7171G>A (p.Ala2391Thr) n.9307G>A | COSMIC COSMIC |
6 | g.51748585_51748586insAGGT | CA2679078642 | PKHD1 | c.9030_9031insACCT (p.Ala3011ThrfsTer31) c.8901_8902insACCT (p.Ala2968ThrfsTer31) c.8892_8893insACCT (p.Ala2965ThrfsTer31) c.8388_8389insACCT (p.Ala2797ThrfsTer31) c.8319_8320insACCT (p.Ala2774ThrfsTer31) c.3105_3106insACCT (p.Ala1036ThrfsTer31) c.8955_8956insACCT (p.Ala2986ThrfsTer31) c.8835_8836insACCT (p.Ala2946ThrfsTer31) c.8766_8767insACCT (p.Ala2923ThrfsTer31) c.7170_7171insACCT (p.Ala2391ThrfsTer31) n.9306_9307insACCT | gnomAD v4 |
6 | g.51748586T>A | CA450614045 | PKHD1 | c.9030A>T (p.Ser3010=) c.8901A>T (p.Ser2967=) c.8892A>T (p.Ser2964=) c.8388A>T (p.Ser2796=) c.8319A>T (p.Ser2773=) c.3105A>T (p.Ser1035=) c.8955A>T (p.Ser2985=) c.8835A>T (p.Ser2945=) c.8766A>T (p.Ser2922=) c.7170A>T (p.Ser2390=) n.9306A>T | gnomAD v4 |
6 | g.51748586T>C | CA450614051 | PKHD1 | c.9030A>G (p.Ser3010=) c.8901A>G (p.Ser2967=) c.8892A>G (p.Ser2964=) c.8388A>G (p.Ser2796=) c.8319A>G (p.Ser2773=) c.3105A>G (p.Ser1035=) c.8955A>G (p.Ser2985=) c.8835A>G (p.Ser2945=) c.8766A>G (p.Ser2922=) c.7170A>G (p.Ser2390=) n.9306A>G | ClinVar dbSNP |
6 | g.51748586T>G | CA450614053 | PKHD1 | c.9030A>C (p.Ser3010=) c.8901A>C (p.Ser2967=) c.8892A>C (p.Ser2964=) c.8388A>C (p.Ser2796=) c.8319A>C (p.Ser2773=) c.3105A>C (p.Ser1035=) c.8955A>C (p.Ser2985=) c.8835A>C (p.Ser2945=) c.8766A>C (p.Ser2922=) c.7170A>C (p.Ser2390=) n.9306A>C | |
6 | g.51748586T= | CA1628503791 | PKHD1 | c.9030A= (p.Ser3010=) c.8901A= (p.Ser2967=) c.8892A= (p.Ser2964=) c.8388A= (p.Ser2796=) c.8319A= (p.Ser2773=) c.3105A= (p.Ser1035=) c.8955A= (p.Ser2985=) c.8835A= (p.Ser2945=) c.8766A= (p.Ser2922=) c.7170A= (p.Ser2390=) n.9306A= | |
6 | g.51748587G>A | CA364424133 | PKHD1 | c.9029C>T (p.Ser3010Leu) c.8900C>T (p.Ser2967Leu) c.8891C>T (p.Ser2964Leu) c.8387C>T (p.Ser2796Leu) c.8318C>T (p.Ser2773Leu) c.3104C>T (p.Ser1035Leu) c.8954C>T (p.Ser2985Leu) c.8834C>T (p.Ser2945Leu) c.8765C>T (p.Ser2922Leu) c.7169C>T (p.Ser2390Leu) n.9305C>T | |
6 | g.51748587G>C | CA364424134 | PKHD1 | c.9029C>G (p.Ser3010Ter) c.8900C>G (p.Ser2967Ter) c.8891C>G (p.Ser2964Ter) c.8387C>G (p.Ser2796Ter) c.8318C>G (p.Ser2773Ter) c.3104C>G (p.Ser1035Ter) c.8954C>G (p.Ser2985Ter) c.8834C>G (p.Ser2945Ter) c.8765C>G (p.Ser2922Ter) c.7169C>G (p.Ser2390Ter) n.9305C>G | |
6 | g.51748587G>T | CA364424136 | PKHD1 | c.9029C>A (p.Ser3010Ter) c.8900C>A (p.Ser2967Ter) c.8891C>A (p.Ser2964Ter) c.8387C>A (p.Ser2796Ter) c.8318C>A (p.Ser2773Ter) c.3104C>A (p.Ser1035Ter) c.8954C>A (p.Ser2985Ter) c.8834C>A (p.Ser2945Ter) c.8765C>A (p.Ser2922Ter) c.7169C>A (p.Ser2390Ter) n.9305C>A | |
6 | g.51748587_51748588insGACAGCAAGCACTAGACCACAATGT | CA2679078643 | PKHD1 | c.9028_9029insACATTGTGGTCTAGTGCTTGCTGTC (p.Ser3010TyrfsTer5) c.8899_8900insACATTGTGGTCTAGTGCTTGCTGTC (p.Ser2967TyrfsTer5) c.8890_8891insACATTGTGGTCTAGTGCTTGCTGTC (p.Ser2964TyrfsTer5) c.8386_8387insACATTGTGGTCTAGTGCTTGCTGTC (p.Ser2796TyrfsTer5) c.8317_8318insACATTGTGGTCTAGTGCTTGCTGTC (p.Ser2773TyrfsTer5) c.3103_3104insACATTGTGGTCTAGTGCTTGCTGTC (p.Ser1035TyrfsTer5) c.8953_8954insACATTGTGGTCTAGTGCTTGCTGTC (p.Ser2985TyrfsTer5) c.8833_8834insACATTGTGGTCTAGTGCTTGCTGTC (p.Ser2945TyrfsTer5) c.8764_8765insACATTGTGGTCTAGTGCTTGCTGTC (p.Ser2922TyrfsTer5) c.7168_7169insACATTGTGGTCTAGTGCTTGCTGTC (p.Ser2390TyrfsTer5) n.9304_9305insACATTGTGGTCTAGTGCTTGCTGTC | gnomAD v4 |
6 | g.51748588A>C | CA364424139 | PKHD1 | c.9028T>G (p.Ser3010Ala) c.8899T>G (p.Ser2967Ala) c.8890T>G (p.Ser2964Ala) c.8386T>G (p.Ser2796Ala) c.8317T>G (p.Ser2773Ala) c.3103T>G (p.Ser1035Ala) c.8953T>G (p.Ser2985Ala) c.8833T>G (p.Ser2945Ala) c.8764T>G (p.Ser2922Ala) c.7168T>G (p.Ser2390Ala) n.9304T>G | |
6 | g.51748588A>G | CA364424140 | PKHD1 | c.9028T>C (p.Ser3010Pro) c.8899T>C (p.Ser2967Pro) c.8890T>C (p.Ser2964Pro) c.8386T>C (p.Ser2796Pro) c.8317T>C (p.Ser2773Pro) c.3103T>C (p.Ser1035Pro) c.8953T>C (p.Ser2985Pro) c.8833T>C (p.Ser2945Pro) c.8764T>C (p.Ser2922Pro) c.7168T>C (p.Ser2390Pro) n.9304T>C | |
6 | g.51748588A>T | CA364424141 | PKHD1 | c.9028T>A (p.Ser3010Thr) c.8899T>A (p.Ser2967Thr) c.8890T>A (p.Ser2964Thr) c.8386T>A (p.Ser2796Thr) c.8317T>A (p.Ser2773Thr) c.3103T>A (p.Ser1035Thr) c.8953T>A (p.Ser2985Thr) c.8833T>A (p.Ser2945Thr) c.8764T>A (p.Ser2922Thr) c.7168T>A (p.Ser2390Thr) n.9304T>A | |
6 | g.51748589C>A | CA450614060 | PKHD1 | c.9027G>T (p.Val3009=) c.8898G>T (p.Val2966=) c.8889G>T (p.Val2963=) c.8385G>T (p.Val2795=) c.8316G>T (p.Val2772=) c.3102G>T (p.Val1034=) c.8952G>T (p.Val2984=) c.8832G>T (p.Val2944=) c.8763G>T (p.Val2921=) c.7167G>T (p.Val2389=) n.9303G>T | ClinVar dbSNP |
6 | g.51748589C= | CA1628503797 | PKHD1 | c.9027G= (p.Val3009=) c.8898G= (p.Val2966=) c.8889G= (p.Val2963=) c.8385G= (p.Val2795=) c.8316G= (p.Val2772=) c.3102G= (p.Val1034=) c.8952G= (p.Val2984=) c.8832G= (p.Val2944=) c.8763G= (p.Val2921=) c.7167G= (p.Val2389=) n.9303G= | |
6 | g.51748589C>G | CA450614058 | PKHD1 | c.9027G>C (p.Val3009=) c.8898G>C (p.Val2966=) c.8889G>C (p.Val2963=) c.8385G>C (p.Val2795=) c.8316G>C (p.Val2772=) c.3102G>C (p.Val1034=) c.8952G>C (p.Val2984=) c.8832G>C (p.Val2944=) c.8763G>C (p.Val2921=) c.7167G>C (p.Val2389=) n.9303G>C | |
6 | g.51748589C>T | CA450614056 | PKHD1 | c.9027G>A (p.Val3009=) c.8898G>A (p.Val2966=) c.8889G>A (p.Val2963=) c.8385G>A (p.Val2795=) c.8316G>A (p.Val2772=) c.3102G>A (p.Val1034=) c.8952G>A (p.Val2984=) c.8832G>A (p.Val2944=) c.8763G>A (p.Val2921=) c.7167G>A (p.Val2389=) n.9303G>A | ClinVar gnomAD v4 |
6 | g.51748590A>C | CA364424144 | PKHD1 | c.9026T>G (p.Val3009Gly) c.8897T>G (p.Val2966Gly) c.8888T>G (p.Val2963Gly) c.8384T>G (p.Val2795Gly) c.8315T>G (p.Val2772Gly) c.3101T>G (p.Val1034Gly) c.8951T>G (p.Val2984Gly) c.8831T>G (p.Val2944Gly) c.8762T>G (p.Val2921Gly) c.7166T>G (p.Val2389Gly) n.9302T>G | |
6 | g.51748590A>G | CA364424145 | PKHD1 | c.9026T>C (p.Val3009Ala) c.8897T>C (p.Val2966Ala) c.8888T>C (p.Val2963Ala) c.8384T>C (p.Val2795Ala) c.8315T>C (p.Val2772Ala) c.3101T>C (p.Val1034Ala) c.8951T>C (p.Val2984Ala) c.8831T>C (p.Val2944Ala) c.8762T>C (p.Val2921Ala) c.7166T>C (p.Val2389Ala) n.9302T>C | |
6 | g.51748590A>T | CA364424147 | PKHD1 | c.9026T>A (p.Val3009Glu) c.8897T>A (p.Val2966Glu) c.8888T>A (p.Val2963Glu) c.8384T>A (p.Val2795Glu) c.8315T>A (p.Val2772Glu) c.3101T>A (p.Val1034Glu) c.8951T>A (p.Val2984Glu) c.8831T>A (p.Val2944Glu) c.8762T>A (p.Val2921Glu) c.7166T>A (p.Val2389Glu) n.9302T>A | |
6 | g.51748591C>A | CA364424149 | PKHD1 | c.9025G>T (p.Val3009Leu) c.8896G>T (p.Val2966Leu) c.8887G>T (p.Val2963Leu) c.8383G>T (p.Val2795Leu) c.8314G>T (p.Val2772Leu) c.3100G>T (p.Val1034Leu) c.8950G>T (p.Val2984Leu) c.8830G>T (p.Val2944Leu) c.8761G>T (p.Val2921Leu) c.7165G>T (p.Val2389Leu) n.9301G>T | |
6 | g.51748591C= | CA1628503805 | PKHD1 | c.9025G= (p.Val3009=) c.8896G= (p.Val2966=) c.8887G= (p.Val2963=) c.8383G= (p.Val2795=) c.8314G= (p.Val2772=) c.3100G= (p.Val1034=) c.8950G= (p.Val2984=) c.8830G= (p.Val2944=) c.8761G= (p.Val2921=) c.7165G= (p.Val2389=) n.9301G= | |
6 | g.51748591C>G | CA364424150 | PKHD1 | c.9025G>C (p.Val3009Leu) c.8896G>C (p.Val2966Leu) c.8887G>C (p.Val2963Leu) c.8383G>C (p.Val2795Leu) c.8314G>C (p.Val2772Leu) c.3100G>C (p.Val1034Leu) c.8950G>C (p.Val2984Leu) c.8830G>C (p.Val2944Leu) c.8761G>C (p.Val2921Leu) c.7165G>C (p.Val2389Leu) n.9301G>C | |
6 | g.51748591C>T | CA3851457 | PKHD1 | c.9025G>A (p.Val3009Met) c.8896G>A (p.Val2966Met) c.8887G>A (p.Val2963Met) c.8383G>A (p.Val2795Met) c.8314G>A (p.Val2772Met) c.3100G>A (p.Val1034Met) c.8950G>A (p.Val2984Met) c.8830G>A (p.Val2944Met) c.8761G>A (p.Val2921Met) c.7165G>A (p.Val2389Met) n.9301G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748592A>C | CA364424152 | PKHD1 | c.9024T>G (p.Asn3008Lys) c.8895T>G (p.Asn2965Lys) c.8886T>G (p.Asn2962Lys) c.8382T>G (p.Asn2794Lys) c.8313T>G (p.Asn2771Lys) c.3099T>G (p.Asn1033Lys) c.8949T>G (p.Asn2983Lys) c.8829T>G (p.Asn2943Lys) c.8760T>G (p.Asn2920Lys) c.7164T>G (p.Asn2388Lys) n.9300T>G | |
6 | g.51748592A>G | CA450614070 | PKHD1 | c.9024T>C (p.Asn3008=) c.8895T>C (p.Asn2965=) c.8886T>C (p.Asn2962=) c.8382T>C (p.Asn2794=) c.8313T>C (p.Asn2771=) c.3099T>C (p.Asn1033=) c.8949T>C (p.Asn2983=) c.8829T>C (p.Asn2943=) c.8760T>C (p.Asn2920=) c.7164T>C (p.Asn2388=) n.9300T>C | gnomAD v4 |
6 | g.51748592A>T | CA364424154 | PKHD1 | c.9024T>A (p.Asn3008Lys) c.8895T>A (p.Asn2965Lys) c.8886T>A (p.Asn2962Lys) c.8382T>A (p.Asn2794Lys) c.8313T>A (p.Asn2771Lys) c.3099T>A (p.Asn1033Lys) c.8949T>A (p.Asn2983Lys) c.8829T>A (p.Asn2943Lys) c.8760T>A (p.Asn2920Lys) c.7164T>A (p.Asn2388Lys) n.9300T>A | |
6 | g.51748593T>A | CA364424156 | PKHD1 | c.9023A>T (p.Asn3008Ile) c.8894A>T (p.Asn2965Ile) c.8885A>T (p.Asn2962Ile) c.8381A>T (p.Asn2794Ile) c.8312A>T (p.Asn2771Ile) c.3098A>T (p.Asn1033Ile) c.8948A>T (p.Asn2983Ile) c.8828A>T (p.Asn2943Ile) c.8759A>T (p.Asn2920Ile) c.7163A>T (p.Asn2388Ile) n.9299A>T | |
6 | g.51748593T>C | CA364424158 | PKHD1 | c.9023A>G (p.Asn3008Ser) c.8894A>G (p.Asn2965Ser) c.8885A>G (p.Asn2962Ser) c.8381A>G (p.Asn2794Ser) c.8312A>G (p.Asn2771Ser) c.3098A>G (p.Asn1033Ser) c.8948A>G (p.Asn2983Ser) c.8828A>G (p.Asn2943Ser) c.8759A>G (p.Asn2920Ser) c.7163A>G (p.Asn2388Ser) n.9299A>G | |
6 | g.51748593T>G | CA364424160 | PKHD1 | c.9023A>C (p.Asn3008Thr) c.8894A>C (p.Asn2965Thr) c.8885A>C (p.Asn2962Thr) c.8381A>C (p.Asn2794Thr) c.8312A>C (p.Asn2771Thr) c.3098A>C (p.Asn1033Thr) c.8948A>C (p.Asn2983Thr) c.8828A>C (p.Asn2943Thr) c.8759A>C (p.Asn2920Thr) c.7163A>C (p.Asn2388Thr) n.9299A>C | |
6 | g.51748594T>A | CA364424166 | PKHD1 | c.9022A>T (p.Asn3008Tyr) c.8893A>T (p.Asn2965Tyr) c.8884A>T (p.Asn2962Tyr) c.8380A>T (p.Asn2794Tyr) c.8311A>T (p.Asn2771Tyr) c.3097A>T (p.Asn1033Tyr) c.8947A>T (p.Asn2983Tyr) c.8827A>T (p.Asn2943Tyr) c.8758A>T (p.Asn2920Tyr) c.7162A>T (p.Asn2388Tyr) n.9298A>T | |
6 | g.51748594T>C | CA364424162 | PKHD1 | c.9022A>G (p.Asn3008Asp) c.8893A>G (p.Asn2965Asp) c.8884A>G (p.Asn2962Asp) c.8380A>G (p.Asn2794Asp) c.8311A>G (p.Asn2771Asp) c.3097A>G (p.Asn1033Asp) c.8947A>G (p.Asn2983Asp) c.8827A>G (p.Asn2943Asp) c.8758A>G (p.Asn2920Asp) c.7162A>G (p.Asn2388Asp) n.9298A>G | |
6 | g.51748594T>G | CA364424164 | PKHD1 | c.9022A>C (p.Asn3008His) c.8893A>C (p.Asn2965His) c.8884A>C (p.Asn2962His) c.8380A>C (p.Asn2794His) c.8311A>C (p.Asn2771His) c.3097A>C (p.Asn1033His) c.8947A>C (p.Asn2983His) c.8827A>C (p.Asn2943His) c.8758A>C (p.Asn2920His) c.7162A>C (p.Asn2388His) n.9298A>C | |
6 | g.51748595A>C | CA364424168 | PKHD1 | c.9021T>G (p.Ser3007Arg) c.8892T>G (p.Ser2964Arg) c.8883T>G (p.Ser2961Arg) c.8379T>G (p.Ser2793Arg) c.8310T>G (p.Ser2770Arg) c.3096T>G (p.Ser1032Arg) c.8946T>G (p.Ser2982Arg) c.8826T>G (p.Ser2942Arg) c.8757T>G (p.Ser2919Arg) c.7161T>G (p.Ser2387Arg) n.9297T>G | |
6 | g.51748595A>G | CA450614082 | PKHD1 | c.9021T>C (p.Ser3007=) c.8892T>C (p.Ser2964=) c.8883T>C (p.Ser2961=) c.8379T>C (p.Ser2793=) c.8310T>C (p.Ser2770=) c.3096T>C (p.Ser1032=) c.8946T>C (p.Ser2982=) c.8826T>C (p.Ser2942=) c.8757T>C (p.Ser2919=) c.7161T>C (p.Ser2387=) n.9297T>C | |
6 | g.51748595A>T | CA364424170 | PKHD1 | c.9021T>A (p.Ser3007Arg) c.8892T>A (p.Ser2964Arg) c.8883T>A (p.Ser2961Arg) c.8379T>A (p.Ser2793Arg) c.8310T>A (p.Ser2770Arg) c.3096T>A (p.Ser1032Arg) c.8946T>A (p.Ser2982Arg) c.8826T>A (p.Ser2942Arg) c.8757T>A (p.Ser2919Arg) c.7161T>A (p.Ser2387Arg) n.9297T>A | |
6 | g.51748596C>A | CA364424173 | PKHD1 | c.9020G>T (p.Ser3007Ile) c.8891G>T (p.Ser2964Ile) c.8882G>T (p.Ser2961Ile) c.8378G>T (p.Ser2793Ile) c.8309G>T (p.Ser2770Ile) c.3095G>T (p.Ser1032Ile) c.8945G>T (p.Ser2982Ile) c.8825G>T (p.Ser2942Ile) c.8756G>T (p.Ser2919Ile) c.7160G>T (p.Ser2387Ile) n.9296G>T | |
6 | g.51748596C>G | CA364424175 | PKHD1 | c.9020G>C (p.Ser3007Thr) c.8891G>C (p.Ser2964Thr) c.8882G>C (p.Ser2961Thr) c.8378G>C (p.Ser2793Thr) c.8309G>C (p.Ser2770Thr) c.3095G>C (p.Ser1032Thr) c.8945G>C (p.Ser2982Thr) c.8825G>C (p.Ser2942Thr) c.8756G>C (p.Ser2919Thr) c.7160G>C (p.Ser2387Thr) n.9296G>C | |
6 | g.51748596C>T | CA364424176 | PKHD1 | c.9020G>A (p.Ser3007Asn) c.8891G>A (p.Ser2964Asn) c.8882G>A (p.Ser2961Asn) c.8378G>A (p.Ser2793Asn) c.8309G>A (p.Ser2770Asn) c.3095G>A (p.Ser1032Asn) c.8945G>A (p.Ser2982Asn) c.8825G>A (p.Ser2942Asn) c.8756G>A (p.Ser2919Asn) c.7160G>A (p.Ser2387Asn) n.9296G>A | |
6 | g.51748597T>A | CA364424178 | PKHD1 | c.9019A>T (p.Ser3007Cys) c.8890A>T (p.Ser2964Cys) c.8881A>T (p.Ser2961Cys) c.8377A>T (p.Ser2793Cys) c.8308A>T (p.Ser2770Cys) c.3094A>T (p.Ser1032Cys) c.8944A>T (p.Ser2982Cys) c.8824A>T (p.Ser2942Cys) c.8755A>T (p.Ser2919Cys) c.7159A>T (p.Ser2387Cys) n.9295A>T | |
6 | g.51748597T>C | CA364424181 | PKHD1 | c.9019A>G (p.Ser3007Gly) c.8890A>G (p.Ser2964Gly) c.8881A>G (p.Ser2961Gly) c.8377A>G (p.Ser2793Gly) c.8308A>G (p.Ser2770Gly) c.3094A>G (p.Ser1032Gly) c.8944A>G (p.Ser2982Gly) c.8824A>G (p.Ser2942Gly) c.8755A>G (p.Ser2919Gly) c.7159A>G (p.Ser2387Gly) n.9295A>G | |
6 | g.51748597T>G | CA364424180 | PKHD1 | c.9019A>C (p.Ser3007Arg) c.8890A>C (p.Ser2964Arg) c.8881A>C (p.Ser2961Arg) c.8377A>C (p.Ser2793Arg) c.8308A>C (p.Ser2770Arg) c.3094A>C (p.Ser1032Arg) c.8944A>C (p.Ser2982Arg) c.8824A>C (p.Ser2942Arg) c.8755A>C (p.Ser2919Arg) c.7159A>C (p.Ser2387Arg) n.9295A>C | |
6 | g.51748598G>A | CA450614085 | PKHD1 | c.9018C>T (p.Phe3006=) c.8889C>T (p.Phe2963=) c.8880C>T (p.Phe2960=) c.8376C>T (p.Phe2792=) c.8307C>T (p.Phe2769=) c.3093C>T (p.Phe1031=) c.8943C>T (p.Phe2981=) c.8823C>T (p.Phe2941=) c.8754C>T (p.Phe2918=) c.7158C>T (p.Phe2386=) n.9294C>T | |
6 | g.51748598G>C | CA364424184 | PKHD1 | c.9018C>G (p.Phe3006Leu) c.8889C>G (p.Phe2963Leu) c.8880C>G (p.Phe2960Leu) c.8376C>G (p.Phe2792Leu) c.8307C>G (p.Phe2769Leu) c.3093C>G (p.Phe1031Leu) c.8943C>G (p.Phe2981Leu) c.8823C>G (p.Phe2941Leu) c.8754C>G (p.Phe2918Leu) c.7158C>G (p.Phe2386Leu) n.9294C>G | |
6 | g.51748598G>T | CA364424186 | PKHD1 | c.9018C>A (p.Phe3006Leu) c.8889C>A (p.Phe2963Leu) c.8880C>A (p.Phe2960Leu) c.8376C>A (p.Phe2792Leu) c.8307C>A (p.Phe2769Leu) c.3093C>A (p.Phe1031Leu) c.8943C>A (p.Phe2981Leu) c.8823C>A (p.Phe2941Leu) c.8754C>A (p.Phe2918Leu) c.7158C>A (p.Phe2386Leu) n.9294C>A | COSMIC COSMIC |
6 | g.51748599A>C | CA364424189 | PKHD1 | c.9017T>G (p.Phe3006Cys) c.8888T>G (p.Phe2963Cys) c.8879T>G (p.Phe2960Cys) c.8375T>G (p.Phe2792Cys) c.8306T>G (p.Phe2769Cys) c.3092T>G (p.Phe1031Cys) c.8942T>G (p.Phe2981Cys) c.8822T>G (p.Phe2941Cys) c.8753T>G (p.Phe2918Cys) c.7157T>G (p.Phe2386Cys) n.9293T>G | |
6 | g.51748599A>G | CA364424191 | PKHD1 | c.9017T>C (p.Phe3006Ser) c.8888T>C (p.Phe2963Ser) c.8879T>C (p.Phe2960Ser) c.8375T>C (p.Phe2792Ser) c.8306T>C (p.Phe2769Ser) c.3092T>C (p.Phe1031Ser) c.8942T>C (p.Phe2981Ser) c.8822T>C (p.Phe2941Ser) c.8753T>C (p.Phe2918Ser) c.7157T>C (p.Phe2386Ser) n.9293T>C | |
6 | g.51748599A>T | CA364424192 | PKHD1 | c.9017T>A (p.Phe3006Tyr) c.8888T>A (p.Phe2963Tyr) c.8879T>A (p.Phe2960Tyr) c.8375T>A (p.Phe2792Tyr) c.8306T>A (p.Phe2769Tyr) c.3092T>A (p.Phe1031Tyr) c.8942T>A (p.Phe2981Tyr) c.8822T>A (p.Phe2941Tyr) c.8753T>A (p.Phe2918Tyr) c.7157T>A (p.Phe2386Tyr) n.9293T>A | |
6 | g.51748600A>C | CA364424195 | PKHD1 | c.9016T>G (p.Phe3006Val) c.8887T>G (p.Phe2963Val) c.8878T>G (p.Phe2960Val) c.8374T>G (p.Phe2792Val) c.8305T>G (p.Phe2769Val) c.3091T>G (p.Phe1031Val) c.8941T>G (p.Phe2981Val) c.8821T>G (p.Phe2941Val) c.8752T>G (p.Phe2918Val) c.7156T>G (p.Phe2386Val) n.9292T>G | |
6 | g.51748600A>G | CA364424197 | PKHD1 | c.9016T>C (p.Phe3006Leu) c.8887T>C (p.Phe2963Leu) c.8878T>C (p.Phe2960Leu) c.8374T>C (p.Phe2792Leu) c.8305T>C (p.Phe2769Leu) c.3091T>C (p.Phe1031Leu) c.8941T>C (p.Phe2981Leu) c.8821T>C (p.Phe2941Leu) c.8752T>C (p.Phe2918Leu) c.7156T>C (p.Phe2386Leu) n.9292T>C | |
6 | g.51748600A>T | CA364424198 | PKHD1 | c.9016T>A (p.Phe3006Ile) c.8887T>A (p.Phe2963Ile) c.8878T>A (p.Phe2960Ile) c.8374T>A (p.Phe2792Ile) c.8305T>A (p.Phe2769Ile) c.3091T>A (p.Phe1031Ile) c.8941T>A (p.Phe2981Ile) c.8821T>A (p.Phe2941Ile) c.8752T>A (p.Phe2918Ile) c.7156T>A (p.Phe2386Ile) n.9292T>A | |
6 | g.51748601T>A | CA364424199 | PKHD1 | c.9015A>T (p.Glu3005Asp) c.8886A>T (p.Glu2962Asp) c.8877A>T (p.Glu2959Asp) c.8373A>T (p.Glu2791Asp) c.8304A>T (p.Glu2768Asp) c.3090A>T (p.Glu1030Asp) c.8940A>T (p.Glu2980Asp) c.8820A>T (p.Glu2940Asp) c.8751A>T (p.Glu2917Asp) c.7155A>T (p.Glu2385Asp) n.9291A>T | |
6 | g.51748601T>C | CA450614088 | PKHD1 | c.9015A>G (p.Glu3005=) c.8886A>G (p.Glu2962=) c.8877A>G (p.Glu2959=) c.8373A>G (p.Glu2791=) c.8304A>G (p.Glu2768=) c.3090A>G (p.Glu1030=) c.8940A>G (p.Glu2980=) c.8820A>G (p.Glu2940=) c.8751A>G (p.Glu2917=) c.7155A>G (p.Glu2385=) n.9291A>G | |
6 | g.51748601T>G | CA364424200 | PKHD1 | c.9015A>C (p.Glu3005Asp) c.8886A>C (p.Glu2962Asp) c.8877A>C (p.Glu2959Asp) c.8373A>C (p.Glu2791Asp) c.8304A>C (p.Glu2768Asp) c.3090A>C (p.Glu1030Asp) c.8940A>C (p.Glu2980Asp) c.8820A>C (p.Glu2940Asp) c.8751A>C (p.Glu2917Asp) c.7155A>C (p.Glu2385Asp) n.9291A>C | |
6 | g.51748602T>A | CA3851458 | PKHD1 | c.9014A>T (p.Glu3005Val) c.8885A>T (p.Glu2962Val) c.8876A>T (p.Glu2959Val) c.8372A>T (p.Glu2791Val) c.8303A>T (p.Glu2768Val) c.3089A>T (p.Glu1030Val) c.8939A>T (p.Glu2980Val) c.8819A>T (p.Glu2940Val) c.8750A>T (p.Glu2917Val) c.7154A>T (p.Glu2385Val) n.9290A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748602T>C | CA364424202 | PKHD1 | c.9014A>G (p.Glu3005Gly) c.8885A>G (p.Glu2962Gly) c.8876A>G (p.Glu2959Gly) c.8372A>G (p.Glu2791Gly) c.8303A>G (p.Glu2768Gly) c.3089A>G (p.Glu1030Gly) c.8939A>G (p.Glu2980Gly) c.8819A>G (p.Glu2940Gly) c.8750A>G (p.Glu2917Gly) c.7154A>G (p.Glu2385Gly) n.9290A>G | |
6 | g.51748602T>G | CA364424203 | PKHD1 | c.9014A>C (p.Glu3005Ala) c.8885A>C (p.Glu2962Ala) c.8876A>C (p.Glu2959Ala) c.8372A>C (p.Glu2791Ala) c.8303A>C (p.Glu2768Ala) c.3089A>C (p.Glu1030Ala) c.8939A>C (p.Glu2980Ala) c.8819A>C (p.Glu2940Ala) c.8750A>C (p.Glu2917Ala) c.7154A>C (p.Glu2385Ala) n.9290A>C | |
6 | g.51748602T= | CA1628503812 | PKHD1 | c.9014A= (p.Glu3005=) c.8885A= (p.Glu2962=) c.8876A= (p.Glu2959=) c.8372A= (p.Glu2791=) c.8303A= (p.Glu2768=) c.3089A= (p.Glu1030=) c.8939A= (p.Glu2980=) c.8819A= (p.Glu2940=) c.8750A= (p.Glu2917=) c.7154A= (p.Glu2385=) n.9290A= | |
6 | g.51748603C>A | CA364424209 | PKHD1 | c.9013G>T (p.Glu3005Ter) c.8884G>T (p.Glu2962Ter) c.8875G>T (p.Glu2959Ter) c.8371G>T (p.Glu2791Ter) c.8302G>T (p.Glu2768Ter) c.3088G>T (p.Glu1030Ter) c.8938G>T (p.Glu2980Ter) c.8818G>T (p.Glu2940Ter) c.8749G>T (p.Glu2917Ter) c.7153G>T (p.Glu2385Ter) n.9289G>T | |
6 | g.51748603C>G | CA364424207 | PKHD1 | c.9013G>C (p.Glu3005Gln) c.8884G>C (p.Glu2962Gln) c.8875G>C (p.Glu2959Gln) c.8371G>C (p.Glu2791Gln) c.8302G>C (p.Glu2768Gln) c.3088G>C (p.Glu1030Gln) c.8938G>C (p.Glu2980Gln) c.8818G>C (p.Glu2940Gln) c.8749G>C (p.Glu2917Gln) c.7153G>C (p.Glu2385Gln) n.9289G>C | |
6 | g.51748603C>T | CA364424206 | PKHD1 | c.9013G>A (p.Glu3005Lys) c.8884G>A (p.Glu2962Lys) c.8875G>A (p.Glu2959Lys) c.8371G>A (p.Glu2791Lys) c.8302G>A (p.Glu2768Lys) c.3088G>A (p.Glu1030Lys) c.8938G>A (p.Glu2980Lys) c.8818G>A (p.Glu2940Lys) c.8749G>A (p.Glu2917Lys) c.7153G>A (p.Glu2385Lys) n.9289G>A | |
6 | g.51748604A>C | CA450614096 | PKHD1 | c.9012T>G (p.Val3004=) c.8883T>G (p.Val2961=) c.8874T>G (p.Val2958=) c.8370T>G (p.Val2790=) c.8301T>G (p.Val2767=) c.3087T>G (p.Val1029=) c.8937T>G (p.Val2979=) c.8817T>G (p.Val2939=) c.8748T>G (p.Val2916=) c.7152T>G (p.Val2384=) n.9288T>G | |
6 | g.51748604A>G | CA450614097 | PKHD1 | c.9012T>C (p.Val3004=) c.8883T>C (p.Val2961=) c.8874T>C (p.Val2958=) c.8370T>C (p.Val2790=) c.8301T>C (p.Val2767=) c.3087T>C (p.Val1029=) c.8937T>C (p.Val2979=) c.8817T>C (p.Val2939=) c.8748T>C (p.Val2916=) c.7152T>C (p.Val2384=) n.9288T>C | |
6 | g.51748604A>T | CA450614098 | PKHD1 | c.9012T>A (p.Val3004=) c.8883T>A (p.Val2961=) c.8874T>A (p.Val2958=) c.8370T>A (p.Val2790=) c.8301T>A (p.Val2767=) c.3087T>A (p.Val1029=) c.8937T>A (p.Val2979=) c.8817T>A (p.Val2939=) c.8748T>A (p.Val2916=) c.7152T>A (p.Val2384=) n.9288T>A | |
6 | g.51748605A>C | CA364424211 | PKHD1 | c.9011T>G (p.Val3004Gly) c.8882T>G (p.Val2961Gly) c.8873T>G (p.Val2958Gly) c.8369T>G (p.Val2790Gly) c.8300T>G (p.Val2767Gly) c.3086T>G (p.Val1029Gly) c.8936T>G (p.Val2979Gly) c.8816T>G (p.Val2939Gly) c.8747T>G (p.Val2916Gly) c.7151T>G (p.Val2384Gly) n.9287T>G | |
6 | g.51748605A>G | CA364424213 | PKHD1 | c.9011T>C (p.Val3004Ala) c.8882T>C (p.Val2961Ala) c.8873T>C (p.Val2958Ala) c.8369T>C (p.Val2790Ala) c.8300T>C (p.Val2767Ala) c.3086T>C (p.Val1029Ala) c.8936T>C (p.Val2979Ala) c.8816T>C (p.Val2939Ala) c.8747T>C (p.Val2916Ala) c.7151T>C (p.Val2384Ala) n.9287T>C | gnomAD v4 |
6 | g.51748605A>T | CA364424215 | PKHD1 | c.9011T>A (p.Val3004Asp) c.8882T>A (p.Val2961Asp) c.8873T>A (p.Val2958Asp) c.8369T>A (p.Val2790Asp) c.8300T>A (p.Val2767Asp) c.3086T>A (p.Val1029Asp) c.8936T>A (p.Val2979Asp) c.8816T>A (p.Val2939Asp) c.8747T>A (p.Val2916Asp) c.7151T>A (p.Val2384Asp) n.9287T>A | |
6 | g.51748606C>A | CA364424217 | PKHD1 | c.9010G>T (p.Val3004Phe) c.8881G>T (p.Val2961Phe) c.8872G>T (p.Val2958Phe) c.8368G>T (p.Val2790Phe) c.8299G>T (p.Val2767Phe) c.3085G>T (p.Val1029Phe) c.8935G>T (p.Val2979Phe) c.8815G>T (p.Val2939Phe) c.8746G>T (p.Val2916Phe) c.7150G>T (p.Val2384Phe) n.9286G>T | |
6 | g.51748606C= | CA1628503817 | PKHD1 | c.9010G= (p.Val3004=) c.8881G= (p.Val2961=) c.8872G= (p.Val2958=) c.8368G= (p.Val2790=) c.8299G= (p.Val2767=) c.3085G= (p.Val1029=) c.8935G= (p.Val2979=) c.8815G= (p.Val2939=) c.8746G= (p.Val2916=) c.7150G= (p.Val2384=) n.9286G= | |
6 | g.51748606C>G | CA364424218 | PKHD1 | c.9010G>C (p.Val3004Leu) c.8881G>C (p.Val2961Leu) c.8872G>C (p.Val2958Leu) c.8368G>C (p.Val2790Leu) c.8299G>C (p.Val2767Leu) c.3085G>C (p.Val1029Leu) c.8935G>C (p.Val2979Leu) c.8815G>C (p.Val2939Leu) c.8746G>C (p.Val2916Leu) c.7150G>C (p.Val2384Leu) n.9286G>C | COSMIC COSMIC |
6 | g.51748606C>T | CA364424221 | PKHD1 | c.9010G>A (p.Val3004Ile) c.8881G>A (p.Val2961Ile) c.8872G>A (p.Val2958Ile) c.8368G>A (p.Val2790Ile) c.8299G>A (p.Val2767Ile) c.3085G>A (p.Val1029Ile) c.8935G>A (p.Val2979Ile) c.8815G>A (p.Val2939Ile) c.8746G>A (p.Val2916Ile) c.7150G>A (p.Val2384Ile) n.9286G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748607A>C | CA450614107 | PKHD1 | c.9009T>G (p.Ser3003=) c.8880T>G (p.Ser2960=) c.8871T>G (p.Ser2957=) c.8367T>G (p.Ser2789=) c.8298T>G (p.Ser2766=) c.3084T>G (p.Ser1028=) c.8934T>G (p.Ser2978=) c.8814T>G (p.Ser2938=) c.8745T>G (p.Ser2915=) c.7149T>G (p.Ser2383=) n.9285T>G | |
6 | g.51748607A>G | CA450614109 | PKHD1 | c.9009T>C (p.Ser3003=) c.8880T>C (p.Ser2960=) c.8871T>C (p.Ser2957=) c.8367T>C (p.Ser2789=) c.8298T>C (p.Ser2766=) c.3084T>C (p.Ser1028=) c.8934T>C (p.Ser2978=) c.8814T>C (p.Ser2938=) c.8745T>C (p.Ser2915=) c.7149T>C (p.Ser2383=) n.9285T>C | |
6 | g.51748607A>T | CA450614111 | PKHD1 | c.9009T>A (p.Ser3003=) c.8880T>A (p.Ser2960=) c.8871T>A (p.Ser2957=) c.8367T>A (p.Ser2789=) c.8298T>A (p.Ser2766=) c.3084T>A (p.Ser1028=) c.8934T>A (p.Ser2978=) c.8814T>A (p.Ser2938=) c.8745T>A (p.Ser2915=) c.7149T>A (p.Ser2383=) n.9285T>A | |
6 | g.51748608G>A | CA364424224 | PKHD1 | c.9008C>T (p.Ser3003Phe) c.8879C>T (p.Ser2960Phe) c.8870C>T (p.Ser2957Phe) c.8366C>T (p.Ser2789Phe) c.8297C>T (p.Ser2766Phe) c.3083C>T (p.Ser1028Phe) c.8933C>T (p.Ser2978Phe) c.8813C>T (p.Ser2938Phe) c.8744C>T (p.Ser2915Phe) c.7148C>T (p.Ser2383Phe) n.9284C>T | |
6 | g.51748608G>C | CA138896758 | PKHD1 | c.9008C>G (p.Ser3003Cys) c.8879C>G (p.Ser2960Cys) c.8870C>G (p.Ser2957Cys) c.8366C>G (p.Ser2789Cys) c.8297C>G (p.Ser2766Cys) c.3083C>G (p.Ser1028Cys) c.8933C>G (p.Ser2978Cys) c.8813C>G (p.Ser2938Cys) c.8744C>G (p.Ser2915Cys) c.7148C>G (p.Ser2383Cys) n.9284C>G | dbSNP gnomAD v4 |
6 | g.51748608G= | CA1628503821 | PKHD1 | c.9008C= (p.Ser3003=) c.8879C= (p.Ser2960=) c.8870C= (p.Ser2957=) c.8366C= (p.Ser2789=) c.8297C= (p.Ser2766=) c.3083C= (p.Ser1028=) c.8933C= (p.Ser2978=) c.8813C= (p.Ser2938=) c.8744C= (p.Ser2915=) c.7148C= (p.Ser2383=) n.9284C= | |
6 | g.51748608G>T | CA364424226 | PKHD1 | c.9008C>A (p.Ser3003Tyr) c.8879C>A (p.Ser2960Tyr) c.8870C>A (p.Ser2957Tyr) c.8366C>A (p.Ser2789Tyr) c.8297C>A (p.Ser2766Tyr) c.3083C>A (p.Ser1028Tyr) c.8933C>A (p.Ser2978Tyr) c.8813C>A (p.Ser2938Tyr) c.8744C>A (p.Ser2915Tyr) c.7148C>A (p.Ser2383Tyr) n.9284C>A | |
6 | g.51748609A>C | CA364424229 | PKHD1 | c.9007T>G (p.Ser3003Ala) c.8878T>G (p.Ser2960Ala) c.8869T>G (p.Ser2957Ala) c.8365T>G (p.Ser2789Ala) c.8296T>G (p.Ser2766Ala) c.3082T>G (p.Ser1028Ala) c.8932T>G (p.Ser2978Ala) c.8812T>G (p.Ser2938Ala) c.8743T>G (p.Ser2915Ala) c.7147T>G (p.Ser2383Ala) n.9283T>G | |
6 | g.51748609A>G | CA364424231 | PKHD1 | c.9007T>C (p.Ser3003Pro) c.8878T>C (p.Ser2960Pro) c.8869T>C (p.Ser2957Pro) c.8365T>C (p.Ser2789Pro) c.8296T>C (p.Ser2766Pro) c.3082T>C (p.Ser1028Pro) c.8932T>C (p.Ser2978Pro) c.8812T>C (p.Ser2938Pro) c.8743T>C (p.Ser2915Pro) c.7147T>C (p.Ser2383Pro) n.9283T>C | |
6 | g.51748609A>T | CA364424232 | PKHD1 | c.9007T>A (p.Ser3003Thr) c.8878T>A (p.Ser2960Thr) c.8869T>A (p.Ser2957Thr) c.8365T>A (p.Ser2789Thr) c.8296T>A (p.Ser2766Thr) c.3082T>A (p.Ser1028Thr) c.8932T>A (p.Ser2978Thr) c.8812T>A (p.Ser2938Thr) c.8743T>A (p.Ser2915Thr) c.7147T>A (p.Ser2383Thr) n.9283T>A | |
6 | g.51748610T>A | CA450614120 | PKHD1 | c.9006A>T (p.Ser3002=) c.8877A>T (p.Ser2959=) c.8868A>T (p.Ser2956=) c.8364A>T (p.Ser2788=) c.8295A>T (p.Ser2765=) c.3081A>T (p.Ser1027=) c.8931A>T (p.Ser2977=) c.8811A>T (p.Ser2937=) c.8742A>T (p.Ser2914=) c.7146A>T (p.Ser2382=) n.9282A>T | gnomAD v4 |
6 | g.51748610T>C | CA450614121 | PKHD1 | c.9006A>G (p.Ser3002=) c.8877A>G (p.Ser2959=) c.8868A>G (p.Ser2956=) c.8364A>G (p.Ser2788=) c.8295A>G (p.Ser2765=) c.3081A>G (p.Ser1027=) c.8931A>G (p.Ser2977=) c.8811A>G (p.Ser2937=) c.8742A>G (p.Ser2914=) c.7146A>G (p.Ser2382=) n.9282A>G | gnomAD v4 |
6 | g.51748610T>G | CA450614122 | PKHD1 | c.9006A>C (p.Ser3002=) c.8877A>C (p.Ser2959=) c.8868A>C (p.Ser2956=) c.8364A>C (p.Ser2788=) c.8295A>C (p.Ser2765=) c.3081A>C (p.Ser1027=) c.8931A>C (p.Ser2977=) c.8811A>C (p.Ser2937=) c.8742A>C (p.Ser2914=) c.7146A>C (p.Ser2382=) n.9282A>C | |
6 | g.51748611G>A | CA364424236 | PKHD1 | c.9005C>T (p.Ser3002Leu) c.8876C>T (p.Ser2959Leu) c.8867C>T (p.Ser2956Leu) c.8363C>T (p.Ser2788Leu) c.8294C>T (p.Ser2765Leu) c.3080C>T (p.Ser1027Leu) c.8930C>T (p.Ser2977Leu) c.8810C>T (p.Ser2937Leu) c.8741C>T (p.Ser2914Leu) c.7145C>T (p.Ser2382Leu) n.9281C>T | |
6 | g.51748611G>C | CA364424237 | PKHD1 | c.9005C>G (p.Ser3002Ter) c.8876C>G (p.Ser2959Ter) c.8867C>G (p.Ser2956Ter) c.8363C>G (p.Ser2788Ter) c.8294C>G (p.Ser2765Ter) c.3080C>G (p.Ser1027Ter) c.8930C>G (p.Ser2977Ter) c.8810C>G (p.Ser2937Ter) c.8741C>G (p.Ser2914Ter) c.7145C>G (p.Ser2382Ter) n.9281C>G | |
6 | g.51748611G>T | CA364424235 | PKHD1 | c.9005C>A (p.Ser3002Ter) c.8876C>A (p.Ser2959Ter) c.8867C>A (p.Ser2956Ter) c.8363C>A (p.Ser2788Ter) c.8294C>A (p.Ser2765Ter) c.3080C>A (p.Ser1027Ter) c.8930C>A (p.Ser2977Ter) c.8810C>A (p.Ser2937Ter) c.8741C>A (p.Ser2914Ter) c.7145C>A (p.Ser2382Ter) n.9281C>A | ClinVar |
6 | g.51748612A>C | CA364424240 | PKHD1 | c.9004T>G (p.Ser3002Ala) c.8875T>G (p.Ser2959Ala) c.8866T>G (p.Ser2956Ala) c.8362T>G (p.Ser2788Ala) c.8293T>G (p.Ser2765Ala) c.3079T>G (p.Ser1027Ala) c.8929T>G (p.Ser2977Ala) c.8809T>G (p.Ser2937Ala) c.8740T>G (p.Ser2914Ala) c.7144T>G (p.Ser2382Ala) n.9280T>G | |
6 | g.51748612A>G | CA364424242 | PKHD1 | c.9004T>C (p.Ser3002Pro) c.8875T>C (p.Ser2959Pro) c.8866T>C (p.Ser2956Pro) c.8362T>C (p.Ser2788Pro) c.8293T>C (p.Ser2765Pro) c.3079T>C (p.Ser1027Pro) c.8929T>C (p.Ser2977Pro) c.8809T>C (p.Ser2937Pro) c.8740T>C (p.Ser2914Pro) c.7144T>C (p.Ser2382Pro) n.9280T>C | gnomAD v4 |
6 | g.51748612A>T | CA364424243 | PKHD1 | c.9004T>A (p.Ser3002Thr) c.8875T>A (p.Ser2959Thr) c.8866T>A (p.Ser2956Thr) c.8362T>A (p.Ser2788Thr) c.8293T>A (p.Ser2765Thr) c.3079T>A (p.Ser1027Thr) c.8929T>A (p.Ser2977Thr) c.8809T>A (p.Ser2937Thr) c.8740T>A (p.Ser2914Thr) c.7144T>A (p.Ser2382Thr) n.9280T>A | gnomAD v4 |
6 | g.51748613G>A | CA3851459 | PKHD1 | c.9003C>T (p.Tyr3001=) c.8874C>T (p.Tyr2958=) c.8865C>T (p.Tyr2955=) c.8361C>T (p.Tyr2787=) c.8292C>T (p.Tyr2764=) c.3078C>T (p.Tyr1026=) c.8928C>T (p.Tyr2976=) c.8808C>T (p.Tyr2936=) c.8739C>T (p.Tyr2913=) c.7143C>T (p.Tyr2381=) n.9279C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748613G>C | CA364424247 | PKHD1 | c.9003C>G (p.Tyr3001Ter) c.8874C>G (p.Tyr2958Ter) c.8865C>G (p.Tyr2955Ter) c.8361C>G (p.Tyr2787Ter) c.8292C>G (p.Tyr2764Ter) c.3078C>G (p.Tyr1026Ter) c.8928C>G (p.Tyr2976Ter) c.8808C>G (p.Tyr2936Ter) c.8739C>G (p.Tyr2913Ter) c.7143C>G (p.Tyr2381Ter) n.9279C>G | ClinVar dbSNP |
6 | g.51748613G= | CA1628503830 | PKHD1 | c.9003C= (p.Tyr3001=) c.8874C= (p.Tyr2958=) c.8865C= (p.Tyr2955=) c.8361C= (p.Tyr2787=) c.8292C= (p.Tyr2764=) c.3078C= (p.Tyr1026=) c.8928C= (p.Tyr2976=) c.8808C= (p.Tyr2936=) c.8739C= (p.Tyr2913=) c.7143C= (p.Tyr2381=) n.9279C= | |
6 | g.51748613G>T | CA364424248 | PKHD1 | c.9003C>A (p.Tyr3001Ter) c.8874C>A (p.Tyr2958Ter) c.8865C>A (p.Tyr2955Ter) c.8361C>A (p.Tyr2787Ter) c.8292C>A (p.Tyr2764Ter) c.3078C>A (p.Tyr1026Ter) c.8928C>A (p.Tyr2976Ter) c.8808C>A (p.Tyr2936Ter) c.8739C>A (p.Tyr2913Ter) c.7143C>A (p.Tyr2381Ter) n.9279C>A | ClinVar |
6 | g.51748614T>A | CA364424251 | PKHD1 | c.9002A>T (p.Tyr3001Phe) c.8873A>T (p.Tyr2958Phe) c.8864A>T (p.Tyr2955Phe) c.8360A>T (p.Tyr2787Phe) c.8291A>T (p.Tyr2764Phe) c.3077A>T (p.Tyr1026Phe) c.8927A>T (p.Tyr2976Phe) c.8807A>T (p.Tyr2936Phe) c.8738A>T (p.Tyr2913Phe) c.7142A>T (p.Tyr2381Phe) n.9278A>T | |
6 | g.51748614T>C | CA364424252 | PKHD1 | c.9002A>G (p.Tyr3001Cys) c.8873A>G (p.Tyr2958Cys) c.8864A>G (p.Tyr2955Cys) c.8360A>G (p.Tyr2787Cys) c.8291A>G (p.Tyr2764Cys) c.3077A>G (p.Tyr1026Cys) c.8927A>G (p.Tyr2976Cys) c.8807A>G (p.Tyr2936Cys) c.8738A>G (p.Tyr2913Cys) c.7142A>G (p.Tyr2381Cys) n.9278A>G | |
6 | g.51748614T>G | CA364424254 | PKHD1 | c.9002A>C (p.Tyr3001Ser) c.8873A>C (p.Tyr2958Ser) c.8864A>C (p.Tyr2955Ser) c.8360A>C (p.Tyr2787Ser) c.8291A>C (p.Tyr2764Ser) c.3077A>C (p.Tyr1026Ser) c.8927A>C (p.Tyr2976Ser) c.8807A>C (p.Tyr2936Ser) c.8738A>C (p.Tyr2913Ser) c.7142A>C (p.Tyr2381Ser) n.9278A>C | |
6 | g.51748615A>C | CA364424257 | PKHD1 | c.9001T>G (p.Tyr3001Asp) c.8872T>G (p.Tyr2958Asp) c.8863T>G (p.Tyr2955Asp) c.8359T>G (p.Tyr2787Asp) c.8290T>G (p.Tyr2764Asp) c.3076T>G (p.Tyr1026Asp) c.8926T>G (p.Tyr2976Asp) c.8806T>G (p.Tyr2936Asp) c.8737T>G (p.Tyr2913Asp) c.7141T>G (p.Tyr2381Asp) n.9277T>G | |
6 | g.51748615A>G | CA364424258 | PKHD1 | c.9001T>C (p.Tyr3001His) c.8872T>C (p.Tyr2958His) c.8863T>C (p.Tyr2955His) c.8359T>C (p.Tyr2787His) c.8290T>C (p.Tyr2764His) c.3076T>C (p.Tyr1026His) c.8926T>C (p.Tyr2976His) c.8806T>C (p.Tyr2936His) c.8737T>C (p.Tyr2913His) c.7141T>C (p.Tyr2381His) n.9277T>C | gnomAD v4 |
6 | g.51748615A>T | CA364424260 | PKHD1 | c.9001T>A (p.Tyr3001Asn) c.8872T>A (p.Tyr2958Asn) c.8863T>A (p.Tyr2955Asn) c.8359T>A (p.Tyr2787Asn) c.8290T>A (p.Tyr2764Asn) c.3076T>A (p.Tyr1026Asn) c.8926T>A (p.Tyr2976Asn) c.8806T>A (p.Tyr2936Asn) c.8737T>A (p.Tyr2913Asn) c.7141T>A (p.Tyr2381Asn) n.9277T>A | |
6 | g.51748616C>A | CA364424263 | PKHD1 | c.9000G>T (p.Leu3000Phe) c.8871G>T (p.Leu2957Phe) c.8862G>T (p.Leu2954Phe) c.8358G>T (p.Leu2786Phe) c.8289G>T (p.Leu2763Phe) c.3075G>T (p.Leu1025Phe) c.8925G>T (p.Leu2975Phe) c.8805G>T (p.Leu2935Phe) c.8736G>T (p.Leu2912Phe) c.7140G>T (p.Leu2380Phe) n.9276G>T | gnomAD v4 |
6 | g.51748616C= | CA1628503845 | PKHD1 | c.9000G= (p.Leu3000=) c.8871G= (p.Leu2957=) c.8862G= (p.Leu2954=) c.8358G= (p.Leu2786=) c.8289G= (p.Leu2763=) c.3075G= (p.Leu1025=) c.8925G= (p.Leu2975=) c.8805G= (p.Leu2935=) c.8736G= (p.Leu2912=) c.7140G= (p.Leu2380=) n.9276G= | |
6 | g.51748616C>G | CA3851460 | PKHD1 | c.9000G>C (p.Leu3000Phe) c.8871G>C (p.Leu2957Phe) c.8862G>C (p.Leu2954Phe) c.8358G>C (p.Leu2786Phe) c.8289G>C (p.Leu2763Phe) c.3075G>C (p.Leu1025Phe) c.8925G>C (p.Leu2975Phe) c.8805G>C (p.Leu2935Phe) c.8736G>C (p.Leu2912Phe) c.7140G>C (p.Leu2380Phe) n.9276G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748616C>T | CA3851461 | PKHD1 | c.9000G>A (p.Leu3000=) c.8871G>A (p.Leu2957=) c.8862G>A (p.Leu2954=) c.8358G>A (p.Leu2786=) c.8289G>A (p.Leu2763=) c.3075G>A (p.Leu1025=) c.8925G>A (p.Leu2975=) c.8805G>A (p.Leu2935=) c.8736G>A (p.Leu2912=) c.7140G>A (p.Leu2380=) n.9276G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748617A= | CA1628503846 | PKHD1 | c.8999T= (p.Leu3000=) c.8870T= (p.Leu2957=) c.8861T= (p.Leu2954=) c.8357T= (p.Leu2786=) c.8288T= (p.Leu2763=) c.3074T= (p.Leu1025=) c.8924T= (p.Leu2975=) c.8804T= (p.Leu2935=) c.8735T= (p.Leu2912=) c.7139T= (p.Leu2380=) n.9275T= | |
6 | g.51748617A>C | CA364424266 | PKHD1 | c.8999T>G (p.Leu3000Trp) c.8870T>G (p.Leu2957Trp) c.8861T>G (p.Leu2954Trp) c.8357T>G (p.Leu2786Trp) c.8288T>G (p.Leu2763Trp) c.3074T>G (p.Leu1025Trp) c.8924T>G (p.Leu2975Trp) c.8804T>G (p.Leu2935Trp) c.8735T>G (p.Leu2912Trp) c.7139T>G (p.Leu2380Trp) n.9275T>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748617A>G | CA364424268 | PKHD1 | c.8999T>C (p.Leu3000Ser) c.8870T>C (p.Leu2957Ser) c.8861T>C (p.Leu2954Ser) c.8357T>C (p.Leu2786Ser) c.8288T>C (p.Leu2763Ser) c.3074T>C (p.Leu1025Ser) c.8924T>C (p.Leu2975Ser) c.8804T>C (p.Leu2935Ser) c.8735T>C (p.Leu2912Ser) c.7139T>C (p.Leu2380Ser) n.9275T>C | |
6 | g.51748617A>T | CA364424269 | PKHD1 | c.8999T>A (p.Leu3000Ter) c.8870T>A (p.Leu2957Ter) c.8861T>A (p.Leu2954Ter) c.8357T>A (p.Leu2786Ter) c.8288T>A (p.Leu2763Ter) c.3074T>A (p.Leu1025Ter) c.8924T>A (p.Leu2975Ter) c.8804T>A (p.Leu2935Ter) c.8735T>A (p.Leu2912Ter) c.7139T>A (p.Leu2380Ter) n.9275T>A | |
6 | g.51748618A>C | CA364424272 | PKHD1 | c.8998T>G (p.Leu3000Val) c.8869T>G (p.Leu2957Val) c.8860T>G (p.Leu2954Val) c.8356T>G (p.Leu2786Val) c.8287T>G (p.Leu2763Val) c.3073T>G (p.Leu1025Val) c.8923T>G (p.Leu2975Val) c.8803T>G (p.Leu2935Val) c.8734T>G (p.Leu2912Val) c.7138T>G (p.Leu2380Val) n.9274T>G | |
6 | g.51748618A>G | CA450614145 | PKHD1 | c.8998T>C (p.Leu3000=) c.8869T>C (p.Leu2957=) c.8860T>C (p.Leu2954=) c.8356T>C (p.Leu2786=) c.8287T>C (p.Leu2763=) c.3073T>C (p.Leu1025=) c.8923T>C (p.Leu2975=) c.8803T>C (p.Leu2935=) c.8734T>C (p.Leu2912=) c.7138T>C (p.Leu2380=) n.9274T>C | |
6 | g.51748618A>T | CA364424274 | PKHD1 | c.8998T>A (p.Leu3000Met) c.8869T>A (p.Leu2957Met) c.8860T>A (p.Leu2954Met) c.8356T>A (p.Leu2786Met) c.8287T>A (p.Leu2763Met) c.3073T>A (p.Leu1025Met) c.8923T>A (p.Leu2975Met) c.8803T>A (p.Leu2935Met) c.8734T>A (p.Leu2912Met) c.7138T>A (p.Leu2380Met) n.9274T>A | |
6 | g.51748619T>A | CA450614149 | PKHD1 | c.8997A>T (p.Pro2999=) c.8868A>T (p.Pro2956=) c.8859A>T (p.Pro2953=) c.8355A>T (p.Pro2785=) c.8286A>T (p.Pro2762=) c.3072A>T (p.Pro1024=) c.8922A>T (p.Pro2974=) c.8802A>T (p.Pro2934=) c.8733A>T (p.Pro2911=) c.7137A>T (p.Pro2379=) n.9273A>T | |
6 | g.51748619T>C | CA3851462 | PKHD1 | c.8997A>G (p.Pro2999=) c.8868A>G (p.Pro2956=) c.8859A>G (p.Pro2953=) c.8355A>G (p.Pro2785=) c.8286A>G (p.Pro2762=) c.3072A>G (p.Pro1024=) c.8922A>G (p.Pro2974=) c.8802A>G (p.Pro2934=) c.8733A>G (p.Pro2911=) c.7137A>G (p.Pro2379=) n.9273A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748619T>G | CA450614153 | PKHD1 | c.8997A>C (p.Pro2999=) c.8868A>C (p.Pro2956=) c.8859A>C (p.Pro2953=) c.8355A>C (p.Pro2785=) c.8286A>C (p.Pro2762=) c.3072A>C (p.Pro1024=) c.8922A>C (p.Pro2974=) c.8802A>C (p.Pro2934=) c.8733A>C (p.Pro2911=) c.7137A>C (p.Pro2379=) n.9273A>C | |
6 | g.51748619T= | CA1628503850 | PKHD1 | c.8997A= (p.Pro2999=) c.8868A= (p.Pro2956=) c.8859A= (p.Pro2953=) c.8355A= (p.Pro2785=) c.8286A= (p.Pro2762=) c.3072A= (p.Pro1024=) c.8922A= (p.Pro2974=) c.8802A= (p.Pro2934=) c.8733A= (p.Pro2911=) c.7137A= (p.Pro2379=) n.9273A= | |
6 | g.51748620G>A | CA364424278 | PKHD1 | c.8996C>T (p.Pro2999Leu) c.8867C>T (p.Pro2956Leu) c.8858C>T (p.Pro2953Leu) c.8354C>T (p.Pro2785Leu) c.8285C>T (p.Pro2762Leu) c.3071C>T (p.Pro1024Leu) c.8921C>T (p.Pro2974Leu) c.8801C>T (p.Pro2934Leu) c.8732C>T (p.Pro2911Leu) c.7136C>T (p.Pro2379Leu) n.9272C>T | |
6 | g.51748620G>C | CA364424282 | PKHD1 | c.8996C>G (p.Pro2999Arg) c.8867C>G (p.Pro2956Arg) c.8858C>G (p.Pro2953Arg) c.8354C>G (p.Pro2785Arg) c.8285C>G (p.Pro2762Arg) c.3071C>G (p.Pro1024Arg) c.8921C>G (p.Pro2974Arg) c.8801C>G (p.Pro2934Arg) c.8732C>G (p.Pro2911Arg) c.7136C>G (p.Pro2379Arg) n.9272C>G | |
6 | g.51748620G>T | CA364424280 | PKHD1 | c.8996C>A (p.Pro2999Gln) c.8867C>A (p.Pro2956Gln) c.8858C>A (p.Pro2953Gln) c.8354C>A (p.Pro2785Gln) c.8285C>A (p.Pro2762Gln) c.3071C>A (p.Pro1024Gln) c.8921C>A (p.Pro2974Gln) c.8801C>A (p.Pro2934Gln) c.8732C>A (p.Pro2911Gln) c.7136C>A (p.Pro2379Gln) n.9272C>A | |
6 | g.51748621del | CA2695206435 | PKHD1 | c.8996del (p.Pro2999HisfsTer?) c.8867del (p.Pro2956HisfsTer?) c.8858del (p.Pro2953HisfsTer?) c.8354del (p.Pro2785HisfsTer?) c.8285del (p.Pro2762HisfsTer?) c.3071del (p.Pro1024HisfsTer?) c.8921del (p.Pro2974HisfsTer?) c.8801del (p.Pro2934HisfsTer?) c.8732del (p.Pro2911HisfsTer?) c.7136del (p.Pro2379HisfsTer?) n.9272del | |
6 | g.51748621G>A | CA364424284 | PKHD1 | c.8995C>T (p.Pro2999Ser) c.8866C>T (p.Pro2956Ser) c.8857C>T (p.Pro2953Ser) c.8353C>T (p.Pro2785Ser) c.8284C>T (p.Pro2762Ser) c.3070C>T (p.Pro1024Ser) c.8920C>T (p.Pro2974Ser) c.8800C>T (p.Pro2934Ser) c.8731C>T (p.Pro2911Ser) c.7135C>T (p.Pro2379Ser) n.9271C>T | |
6 | g.51748621G>C | CA364424285 | PKHD1 | c.8995C>G (p.Pro2999Ala) c.8866C>G (p.Pro2956Ala) c.8857C>G (p.Pro2953Ala) c.8353C>G (p.Pro2785Ala) c.8284C>G (p.Pro2762Ala) c.3070C>G (p.Pro1024Ala) c.8920C>G (p.Pro2974Ala) c.8800C>G (p.Pro2934Ala) c.8731C>G (p.Pro2911Ala) c.7135C>G (p.Pro2379Ala) n.9271C>G | |
6 | g.51748621G>T | CA364424286 | PKHD1 | c.8995C>A (p.Pro2999Thr) c.8866C>A (p.Pro2956Thr) c.8857C>A (p.Pro2953Thr) c.8353C>A (p.Pro2785Thr) c.8284C>A (p.Pro2762Thr) c.3070C>A (p.Pro1024Thr) c.8920C>A (p.Pro2974Thr) c.8800C>A (p.Pro2934Thr) c.8731C>A (p.Pro2911Thr) c.7135C>A (p.Pro2379Thr) n.9271C>A | |
6 | g.51748622T>A | CA450614156 | PKHD1 | c.8994A>T (p.Ser2998=) c.8865A>T (p.Ser2955=) c.8856A>T (p.Ser2952=) c.8352A>T (p.Ser2784=) c.8283A>T (p.Ser2761=) c.3069A>T (p.Ser1023=) c.8919A>T (p.Ser2973=) c.8799A>T (p.Ser2933=) c.8730A>T (p.Ser2910=) c.7134A>T (p.Ser2378=) n.9270A>T | |
6 | g.51748622T>C | CA3851463 | PKHD1 | c.8994A>G (p.Ser2998=) c.8865A>G (p.Ser2955=) c.8856A>G (p.Ser2952=) c.8352A>G (p.Ser2784=) c.8283A>G (p.Ser2761=) c.3069A>G (p.Ser1023=) c.8919A>G (p.Ser2973=) c.8799A>G (p.Ser2933=) c.8730A>G (p.Ser2910=) c.7134A>G (p.Ser2378=) n.9270A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748622T>G | CA450614158 | PKHD1 | c.8994A>C (p.Ser2998=) c.8865A>C (p.Ser2955=) c.8856A>C (p.Ser2952=) c.8352A>C (p.Ser2784=) c.8283A>C (p.Ser2761=) c.3069A>C (p.Ser1023=) c.8919A>C (p.Ser2973=) c.8799A>C (p.Ser2933=) c.8730A>C (p.Ser2910=) c.7134A>C (p.Ser2378=) n.9270A>C | |
6 | g.51748622T= | CA1628503859 | PKHD1 | c.8994A= (p.Ser2998=) c.8865A= (p.Ser2955=) c.8856A= (p.Ser2952=) c.8352A= (p.Ser2784=) c.8283A= (p.Ser2761=) c.3069A= (p.Ser1023=) c.8919A= (p.Ser2973=) c.8799A= (p.Ser2933=) c.8730A= (p.Ser2910=) c.7134A= (p.Ser2378=) n.9270A= | |
6 | g.51748623G>A | CA3851464 | PKHD1 | c.8993C>T (p.Ser2998Leu) c.8864C>T (p.Ser2955Leu) c.8855C>T (p.Ser2952Leu) c.8351C>T (p.Ser2784Leu) c.8282C>T (p.Ser2761Leu) c.3068C>T (p.Ser1023Leu) c.8918C>T (p.Ser2973Leu) c.8798C>T (p.Ser2933Leu) c.8729C>T (p.Ser2910Leu) c.7133C>T (p.Ser2378Leu) n.9269C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748623G>C | CA364424291 | PKHD1 | c.8993C>G (p.Ser2998Ter) c.8864C>G (p.Ser2955Ter) c.8855C>G (p.Ser2952Ter) c.8351C>G (p.Ser2784Ter) c.8282C>G (p.Ser2761Ter) c.3068C>G (p.Ser1023Ter) c.8918C>G (p.Ser2973Ter) c.8798C>G (p.Ser2933Ter) c.8729C>G (p.Ser2910Ter) c.7133C>G (p.Ser2378Ter) n.9269C>G | |
6 | g.51748623G= | CA1628503864 | PKHD1 | c.8993C= (p.Ser2998=) c.8864C= (p.Ser2955=) c.8855C= (p.Ser2952=) c.8351C= (p.Ser2784=) c.8282C= (p.Ser2761=) c.3068C= (p.Ser1023=) c.8918C= (p.Ser2973=) c.8798C= (p.Ser2933=) c.8729C= (p.Ser2910=) c.7133C= (p.Ser2378=) n.9269C= | |
6 | g.51748623G>T | CA364424289 | PKHD1 | c.8993C>A (p.Ser2998Ter) c.8864C>A (p.Ser2955Ter) c.8855C>A (p.Ser2952Ter) c.8351C>A (p.Ser2784Ter) c.8282C>A (p.Ser2761Ter) c.3068C>A (p.Ser1023Ter) c.8918C>A (p.Ser2973Ter) c.8798C>A (p.Ser2933Ter) c.8729C>A (p.Ser2910Ter) c.7133C>A (p.Ser2378Ter) n.9269C>A | |
6 | g.51748624A>C | CA364424293 | PKHD1 | c.8992T>G (p.Ser2998Ala) c.8863T>G (p.Ser2955Ala) c.8854T>G (p.Ser2952Ala) c.8350T>G (p.Ser2784Ala) c.8281T>G (p.Ser2761Ala) c.3067T>G (p.Ser1023Ala) c.8917T>G (p.Ser2973Ala) c.8797T>G (p.Ser2933Ala) c.8728T>G (p.Ser2910Ala) c.7132T>G (p.Ser2378Ala) n.9268T>G | |
6 | g.51748624A>G | CA364424296 | PKHD1 | c.8992T>C (p.Ser2998Pro) c.8863T>C (p.Ser2955Pro) c.8854T>C (p.Ser2952Pro) c.8350T>C (p.Ser2784Pro) c.8281T>C (p.Ser2761Pro) c.3067T>C (p.Ser1023Pro) c.8917T>C (p.Ser2973Pro) c.8797T>C (p.Ser2933Pro) c.8728T>C (p.Ser2910Pro) c.7132T>C (p.Ser2378Pro) n.9268T>C | |
6 | g.51748624A>T | CA364424295 | PKHD1 | c.8992T>A (p.Ser2998Thr) c.8863T>A (p.Ser2955Thr) c.8854T>A (p.Ser2952Thr) c.8350T>A (p.Ser2784Thr) c.8281T>A (p.Ser2761Thr) c.3067T>A (p.Ser1023Thr) c.8917T>A (p.Ser2973Thr) c.8797T>A (p.Ser2933Thr) c.8728T>A (p.Ser2910Thr) c.7132T>A (p.Ser2378Thr) n.9268T>A | |
6 | g.51748625C>A | CA450614162 | PKHD1 | c.8991G>T (p.Gly2997=) c.8862G>T (p.Gly2954=) c.8853G>T (p.Gly2951=) c.8349G>T (p.Gly2783=) c.8280G>T (p.Gly2760=) c.3066G>T (p.Gly1022=) c.8916G>T (p.Gly2972=) c.8796G>T (p.Gly2932=) c.8727G>T (p.Gly2909=) c.7131G>T (p.Gly2377=) n.9267G>T | |
6 | g.51748625C>G | CA450614163 | PKHD1 | c.8991G>C (p.Gly2997=) c.8862G>C (p.Gly2954=) c.8853G>C (p.Gly2951=) c.8349G>C (p.Gly2783=) c.8280G>C (p.Gly2760=) c.3066G>C (p.Gly1022=) c.8916G>C (p.Gly2972=) c.8796G>C (p.Gly2932=) c.8727G>C (p.Gly2909=) c.7131G>C (p.Gly2377=) n.9267G>C | |
6 | g.51748625C>T | CA450614164 | PKHD1 | c.8991G>A (p.Gly2997=) c.8862G>A (p.Gly2954=) c.8853G>A (p.Gly2951=) c.8349G>A (p.Gly2783=) c.8280G>A (p.Gly2760=) c.3066G>A (p.Gly1022=) c.8916G>A (p.Gly2972=) c.8796G>A (p.Gly2932=) c.8727G>A (p.Gly2909=) c.7131G>A (p.Gly2377=) n.9267G>A | gnomAD v4 |
6 | g.51748626C>A | CA364424297 | PKHD1 | c.8990G>T (p.Gly2997Val) c.8861G>T (p.Gly2954Val) c.8852G>T (p.Gly2951Val) c.8348G>T (p.Gly2783Val) c.8279G>T (p.Gly2760Val) c.3065G>T (p.Gly1022Val) c.8915G>T (p.Gly2972Val) c.8795G>T (p.Gly2932Val) c.8726G>T (p.Gly2909Val) c.7130G>T (p.Gly2377Val) n.9266G>T | gnomAD v4 |
6 | g.51748626C>G | CA364424300 | PKHD1 | c.8990G>C (p.Gly2997Ala) c.8861G>C (p.Gly2954Ala) c.8852G>C (p.Gly2951Ala) c.8348G>C (p.Gly2783Ala) c.8279G>C (p.Gly2760Ala) c.3065G>C (p.Gly1022Ala) c.8915G>C (p.Gly2972Ala) c.8795G>C (p.Gly2932Ala) c.8726G>C (p.Gly2909Ala) c.7130G>C (p.Gly2377Ala) n.9266G>C | |
6 | g.51748626C>T | CA364424298 | PKHD1 | c.8990G>A (p.Gly2997Glu) c.8861G>A (p.Gly2954Glu) c.8852G>A (p.Gly2951Glu) c.8348G>A (p.Gly2783Glu) c.8279G>A (p.Gly2760Glu) c.3065G>A (p.Gly1022Glu) c.8915G>A (p.Gly2972Glu) c.8795G>A (p.Gly2932Glu) c.8726G>A (p.Gly2909Glu) c.7130G>A (p.Gly2377Glu) n.9266G>A | gnomAD v4 |
6 | g.51748627C>A | CA364424302 | PKHD1 | c.8989G>T (p.Gly2997Trp) c.8860G>T (p.Gly2954Trp) c.8851G>T (p.Gly2951Trp) c.8347G>T (p.Gly2783Trp) c.8278G>T (p.Gly2760Trp) c.3064G>T (p.Gly1022Trp) c.8914G>T (p.Gly2972Trp) c.8794G>T (p.Gly2932Trp) c.8725G>T (p.Gly2909Trp) c.7129G>T (p.Gly2377Trp) n.9265G>T | dbSNP gnomAD v2 |
6 | g.51748627C= | CA1628503875 | PKHD1 | c.8989G= (p.Gly2997=) c.8860G= (p.Gly2954=) c.8851G= (p.Gly2951=) c.8347G= (p.Gly2783=) c.8278G= (p.Gly2760=) c.3064G= (p.Gly1022=) c.8914G= (p.Gly2972=) c.8794G= (p.Gly2932=) c.8725G= (p.Gly2909=) c.7129G= (p.Gly2377=) n.9265G= | |
6 | g.51748627C>G | CA364424304 | PKHD1 | c.8989G>C (p.Gly2997Arg) c.8860G>C (p.Gly2954Arg) c.8851G>C (p.Gly2951Arg) c.8347G>C (p.Gly2783Arg) c.8278G>C (p.Gly2760Arg) c.3064G>C (p.Gly1022Arg) c.8914G>C (p.Gly2972Arg) c.8794G>C (p.Gly2932Arg) c.8725G>C (p.Gly2909Arg) c.7129G>C (p.Gly2377Arg) n.9265G>C | |
6 | g.51748627C>T | CA10627197 | PKHD1 | c.8989G>A (p.Gly2997Arg) c.8860G>A (p.Gly2954Arg) c.8851G>A (p.Gly2951Arg) c.8347G>A (p.Gly2783Arg) c.8278G>A (p.Gly2760Arg) c.3064G>A (p.Gly1022Arg) c.8914G>A (p.Gly2972Arg) c.8794G>A (p.Gly2932Arg) c.8725G>A (p.Gly2909Arg) c.7129G>A (p.Gly2377Arg) n.9265G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
6 | g.51748628G>A | CA3851465 | PKHD1 | c.8988C>T (p.Phe2996=) c.8859C>T (p.Phe2953=) c.8850C>T (p.Phe2950=) c.8346C>T (p.Phe2782=) c.8277C>T (p.Phe2759=) c.3063C>T (p.Phe1021=) c.8913C>T (p.Phe2971=) c.8793C>T (p.Phe2931=) c.8724C>T (p.Phe2908=) c.7128C>T (p.Phe2376=) n.9264C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.51748628G>C | CA364424309 | PKHD1 | c.8988C>G (p.Phe2996Leu) c.8859C>G (p.Phe2953Leu) c.8850C>G (p.Phe2950Leu) c.8346C>G (p.Phe2782Leu) c.8277C>G (p.Phe2759Leu) c.3063C>G (p.Phe1021Leu) c.8913C>G (p.Phe2971Leu) c.8793C>G (p.Phe2931Leu) c.8724C>G (p.Phe2908Leu) c.7128C>G (p.Phe2376Leu) n.9264C>G | |
6 | g.51748628G= | CA1628503879 | PKHD1 | c.8988C= (p.Phe2996=) c.8859C= (p.Phe2953=) c.8850C= (p.Phe2950=) c.8346C= (p.Phe2782=) c.8277C= (p.Phe2759=) c.3063C= (p.Phe1021=) c.8913C= (p.Phe2971=) c.8793C= (p.Phe2931=) c.8724C= (p.Phe2908=) c.7128C= (p.Phe2376=) n.9264C= | |
6 | g.51748628G>T | CA364424311 | PKHD1 | c.8988C>A (p.Phe2996Leu) c.8859C>A (p.Phe2953Leu) c.8850C>A (p.Phe2950Leu) c.8346C>A (p.Phe2782Leu) c.8277C>A (p.Phe2759Leu) c.3063C>A (p.Phe1021Leu) c.8913C>A (p.Phe2971Leu) c.8793C>A (p.Phe2931Leu) c.8724C>A (p.Phe2908Leu) c.7128C>A (p.Phe2376Leu) n.9264C>A | |
6 | g.51748629A= | CA1628503884 | PKHD1 | c.8987T= (p.Phe2996=) c.8858T= (p.Phe2953=) c.8849T= (p.Phe2950=) c.8345T= (p.Phe2782=) c.8276T= (p.Phe2759=) c.3062T= (p.Phe1021=) c.8912T= (p.Phe2971=) c.8792T= (p.Phe2931=) c.8723T= (p.Phe2908=) c.7127T= (p.Phe2376=) n.9263T= | |
6 | g.51748629A>C | CA3851466 | PKHD1 | c.8987T>G (p.Phe2996Cys) c.8858T>G (p.Phe2953Cys) c.8849T>G (p.Phe2950Cys) c.8345T>G (p.Phe2782Cys) c.8276T>G (p.Phe2759Cys) c.3062T>G (p.Phe1021Cys) c.8912T>G (p.Phe2971Cys) c.8792T>G (p.Phe2931Cys) c.8723T>G (p.Phe2908Cys) c.7127T>G (p.Phe2376Cys) n.9263T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748629A>G | CA364424313 | PKHD1 | c.8987T>C (p.Phe2996Ser) c.8858T>C (p.Phe2953Ser) c.8849T>C (p.Phe2950Ser) c.8345T>C (p.Phe2782Ser) c.8276T>C (p.Phe2759Ser) c.3062T>C (p.Phe1021Ser) c.8912T>C (p.Phe2971Ser) c.8792T>C (p.Phe2931Ser) c.8723T>C (p.Phe2908Ser) c.7127T>C (p.Phe2376Ser) n.9263T>C | COSMIC COSMIC |
6 | g.51748629A>T | CA364424315 | PKHD1 | c.8987T>A (p.Phe2996Tyr) c.8858T>A (p.Phe2953Tyr) c.8849T>A (p.Phe2950Tyr) c.8345T>A (p.Phe2782Tyr) c.8276T>A (p.Phe2759Tyr) c.3062T>A (p.Phe1021Tyr) c.8912T>A (p.Phe2971Tyr) c.8792T>A (p.Phe2931Tyr) c.8723T>A (p.Phe2908Tyr) c.7127T>A (p.Phe2376Tyr) n.9263T>A | |
6 | g.51748630dup | CA2580075493 | PKHD1 | c.8987dup (p.Gly2997ArgfsTer9) c.8858dup (p.Gly2954ArgfsTer9) c.8849dup (p.Gly2951ArgfsTer9) c.8345dup (p.Gly2783ArgfsTer9) c.8276dup (p.Gly2760ArgfsTer9) c.3062dup (p.Gly1022ArgfsTer9) c.8912dup (p.Gly2972ArgfsTer9) c.8792dup (p.Gly2932ArgfsTer9) c.8723dup (p.Gly2909ArgfsTer9) c.7127dup (p.Gly2377ArgfsTer9) n.9263dup | ClinVar |
6 | g.51748630A>C | CA364424318 | PKHD1 | c.8986T>G (p.Phe2996Val) c.8857T>G (p.Phe2953Val) c.8848T>G (p.Phe2950Val) c.8344T>G (p.Phe2782Val) c.8275T>G (p.Phe2759Val) c.3061T>G (p.Phe1021Val) c.8911T>G (p.Phe2971Val) c.8791T>G (p.Phe2931Val) c.8722T>G (p.Phe2908Val) c.7126T>G (p.Phe2376Val) n.9262T>G | |
6 | g.51748630A>G | CA364424320 | PKHD1 | c.8986T>C (p.Phe2996Leu) c.8857T>C (p.Phe2953Leu) c.8848T>C (p.Phe2950Leu) c.8344T>C (p.Phe2782Leu) c.8275T>C (p.Phe2759Leu) c.3061T>C (p.Phe1021Leu) c.8911T>C (p.Phe2971Leu) c.8791T>C (p.Phe2931Leu) c.8722T>C (p.Phe2908Leu) c.7126T>C (p.Phe2376Leu) n.9262T>C | |
6 | g.51748630A>T | CA364424322 | PKHD1 | c.8986T>A (p.Phe2996Ile) c.8857T>A (p.Phe2953Ile) c.8848T>A (p.Phe2950Ile) c.8344T>A (p.Phe2782Ile) c.8275T>A (p.Phe2759Ile) c.3061T>A (p.Phe1021Ile) c.8911T>A (p.Phe2971Ile) c.8791T>A (p.Phe2931Ile) c.8722T>A (p.Phe2908Ile) c.7126T>A (p.Phe2376Ile) n.9262T>A | |
6 | g.51748631G>A | CA450614169 | PKHD1 | c.8985C>T (p.Asn2995=) c.8856C>T (p.Asn2952=) c.8847C>T (p.Asn2949=) c.8343C>T (p.Asn2781=) c.8274C>T (p.Asn2758=) c.3060C>T (p.Asn1020=) c.8910C>T (p.Asn2970=) c.8790C>T (p.Asn2930=) c.8721C>T (p.Asn2907=) c.7125C>T (p.Asn2375=) n.9261C>T | |
6 | g.51748631G>C | CA364424324 | PKHD1 | c.8985C>G (p.Asn2995Lys) c.8856C>G (p.Asn2952Lys) c.8847C>G (p.Asn2949Lys) c.8343C>G (p.Asn2781Lys) c.8274C>G (p.Asn2758Lys) c.3060C>G (p.Asn1020Lys) c.8910C>G (p.Asn2970Lys) c.8790C>G (p.Asn2930Lys) c.8721C>G (p.Asn2907Lys) c.7125C>G (p.Asn2375Lys) n.9261C>G | |
6 | g.51748631G>T | CA364424325 | PKHD1 | c.8985C>A (p.Asn2995Lys) c.8856C>A (p.Asn2952Lys) c.8847C>A (p.Asn2949Lys) c.8343C>A (p.Asn2781Lys) c.8274C>A (p.Asn2758Lys) c.3060C>A (p.Asn1020Lys) c.8910C>A (p.Asn2970Lys) c.8790C>A (p.Asn2930Lys) c.8721C>A (p.Asn2907Lys) c.7125C>A (p.Asn2375Lys) n.9261C>A | |
6 | g.51748632T>A | CA364424329 | PKHD1 | c.8984A>T (p.Asn2995Ile) c.8855A>T (p.Asn2952Ile) c.8846A>T (p.Asn2949Ile) c.8342A>T (p.Asn2781Ile) c.8273A>T (p.Asn2758Ile) c.3059A>T (p.Asn1020Ile) c.8909A>T (p.Asn2970Ile) c.8789A>T (p.Asn2930Ile) c.8720A>T (p.Asn2907Ile) c.7124A>T (p.Asn2375Ile) n.9260A>T | |
6 | g.51748632T>C | CA364424326 | PKHD1 | c.8984A>G (p.Asn2995Ser) c.8855A>G (p.Asn2952Ser) c.8846A>G (p.Asn2949Ser) c.8342A>G (p.Asn2781Ser) c.8273A>G (p.Asn2758Ser) c.3059A>G (p.Asn1020Ser) c.8909A>G (p.Asn2970Ser) c.8789A>G (p.Asn2930Ser) c.8720A>G (p.Asn2907Ser) c.7124A>G (p.Asn2375Ser) n.9260A>G | |
6 | g.51748632T>G | CA364424327 | PKHD1 | c.8984A>C (p.Asn2995Thr) c.8855A>C (p.Asn2952Thr) c.8846A>C (p.Asn2949Thr) c.8342A>C (p.Asn2781Thr) c.8273A>C (p.Asn2758Thr) c.3059A>C (p.Asn1020Thr) c.8909A>C (p.Asn2970Thr) c.8789A>C (p.Asn2930Thr) c.8720A>C (p.Asn2907Thr) c.7124A>C (p.Asn2375Thr) n.9260A>C | |
6 | g.51748633T>A | CA364424330 | PKHD1 | c.8983A>T (p.Asn2995Tyr) c.8854A>T (p.Asn2952Tyr) c.8845A>T (p.Asn2949Tyr) c.8341A>T (p.Asn2781Tyr) c.8272A>T (p.Asn2758Tyr) c.3058A>T (p.Asn1020Tyr) c.8908A>T (p.Asn2970Tyr) c.8788A>T (p.Asn2930Tyr) c.8719A>T (p.Asn2907Tyr) c.7123A>T (p.Asn2375Tyr) n.9259A>T | |
6 | g.51748633T>C | CA364424332 | PKHD1 | c.8983A>G (p.Asn2995Asp) c.8854A>G (p.Asn2952Asp) c.8845A>G (p.Asn2949Asp) c.8341A>G (p.Asn2781Asp) c.8272A>G (p.Asn2758Asp) c.3058A>G (p.Asn1020Asp) c.8908A>G (p.Asn2970Asp) c.8788A>G (p.Asn2930Asp) c.8719A>G (p.Asn2907Asp) c.7123A>G (p.Asn2375Asp) n.9259A>G | |
6 | g.51748633T>G | CA364424334 | PKHD1 | c.8983A>C (p.Asn2995His) c.8854A>C (p.Asn2952His) c.8845A>C (p.Asn2949His) c.8341A>C (p.Asn2781His) c.8272A>C (p.Asn2758His) c.3058A>C (p.Asn1020His) c.8908A>C (p.Asn2970His) c.8788A>C (p.Asn2930His) c.8719A>C (p.Asn2907His) c.7123A>C (p.Asn2375His) n.9259A>C | |
6 | g.51748634C>A | CA364424339 | PKHD1 | c.8982G>T (p.Gln2994His) c.8853G>T (p.Gln2951His) c.8844G>T (p.Gln2948His) c.8340G>T (p.Gln2780His) c.8271G>T (p.Gln2757His) c.3057G>T (p.Gln1019His) c.8907G>T (p.Gln2969His) c.8787G>T (p.Gln2929His) c.8718G>T (p.Gln2906His) c.7122G>T (p.Gln2374His) n.9258G>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748634C= | CA1628503887 | PKHD1 | c.8982G= (p.Gln2994=) c.8853G= (p.Gln2951=) c.8844G= (p.Gln2948=) c.8340G= (p.Gln2780=) c.8271G= (p.Gln2757=) c.3057G= (p.Gln1019=) c.8907G= (p.Gln2969=) c.8787G= (p.Gln2929=) c.8718G= (p.Gln2906=) c.7122G= (p.Gln2374=) n.9258G= | |
6 | g.51748634C>G | CA364424344 | PKHD1 | c.8982G>C (p.Gln2994His) c.8853G>C (p.Gln2951His) c.8844G>C (p.Gln2948His) c.8340G>C (p.Gln2780His) c.8271G>C (p.Gln2757His) c.3057G>C (p.Gln1019His) c.8907G>C (p.Gln2969His) c.8787G>C (p.Gln2929His) c.8718G>C (p.Gln2906His) c.7122G>C (p.Gln2374His) n.9258G>C | |
6 | g.51748634C>T | CA450614177 | PKHD1 | c.8982G>A (p.Gln2994=) c.8853G>A (p.Gln2951=) c.8844G>A (p.Gln2948=) c.8340G>A (p.Gln2780=) c.8271G>A (p.Gln2757=) c.3057G>A (p.Gln1019=) c.8907G>A (p.Gln2969=) c.8787G>A (p.Gln2929=) c.8718G>A (p.Gln2906=) c.7122G>A (p.Gln2374=) n.9258G>A | |
6 | g.51748635T>A | CA364424346 | PKHD1 | c.8981A>T (p.Gln2994Leu) c.8852A>T (p.Gln2951Leu) c.8843A>T (p.Gln2948Leu) c.8339A>T (p.Gln2780Leu) c.8270A>T (p.Gln2757Leu) c.3056A>T (p.Gln1019Leu) c.8906A>T (p.Gln2969Leu) c.8786A>T (p.Gln2929Leu) c.8717A>T (p.Gln2906Leu) c.7121A>T (p.Gln2374Leu) n.9257A>T | |
6 | g.51748635T>C | CA364424354 | PKHD1 | c.8981A>G (p.Gln2994Arg) c.8852A>G (p.Gln2951Arg) c.8843A>G (p.Gln2948Arg) c.8339A>G (p.Gln2780Arg) c.8270A>G (p.Gln2757Arg) c.3056A>G (p.Gln1019Arg) c.8906A>G (p.Gln2969Arg) c.8786A>G (p.Gln2929Arg) c.8717A>G (p.Gln2906Arg) c.7121A>G (p.Gln2374Arg) n.9257A>G | dbSNP |
6 | g.51748635T>G | CA364424356 | PKHD1 | c.8981A>C (p.Gln2994Pro) c.8852A>C (p.Gln2951Pro) c.8843A>C (p.Gln2948Pro) c.8339A>C (p.Gln2780Pro) c.8270A>C (p.Gln2757Pro) c.3056A>C (p.Gln1019Pro) c.8906A>C (p.Gln2969Pro) c.8786A>C (p.Gln2929Pro) c.8717A>C (p.Gln2906Pro) c.7121A>C (p.Gln2374Pro) n.9257A>C | |
6 | g.51748635T= | CA1628503889 | PKHD1 | c.8981A= (p.Gln2994=) c.8852A= (p.Gln2951=) c.8843A= (p.Gln2948=) c.8339A= (p.Gln2780=) c.8270A= (p.Gln2757=) c.3056A= (p.Gln1019=) c.8906A= (p.Gln2969=) c.8786A= (p.Gln2929=) c.8717A= (p.Gln2906=) c.7121A= (p.Gln2374=) n.9257A= | |
6 | g.51748636G>A | CA364424358 | PKHD1 | c.8980C>T (p.Gln2994Ter) c.8851C>T (p.Gln2951Ter) c.8842C>T (p.Gln2948Ter) c.8338C>T (p.Gln2780Ter) c.8269C>T (p.Gln2757Ter) c.3055C>T (p.Gln1019Ter) c.8905C>T (p.Gln2969Ter) c.8785C>T (p.Gln2929Ter) c.8716C>T (p.Gln2906Ter) c.7120C>T (p.Gln2374Ter) n.9256C>T | ClinVar dbSNP gnomAD v4 |
6 | g.51748636G>C | CA364424359 | PKHD1 | c.8980C>G (p.Gln2994Glu) c.8851C>G (p.Gln2951Glu) c.8842C>G (p.Gln2948Glu) c.8338C>G (p.Gln2780Glu) c.8269C>G (p.Gln2757Glu) c.3055C>G (p.Gln1019Glu) c.8905C>G (p.Gln2969Glu) c.8785C>G (p.Gln2929Glu) c.8716C>G (p.Gln2906Glu) c.7120C>G (p.Gln2374Glu) n.9256C>G | gnomAD v4 |
6 | g.51748636G>T | CA364424362 | PKHD1 | c.8980C>A (p.Gln2994Lys) c.8851C>A (p.Gln2951Lys) c.8842C>A (p.Gln2948Lys) c.8338C>A (p.Gln2780Lys) c.8269C>A (p.Gln2757Lys) c.3055C>A (p.Gln1019Lys) c.8905C>A (p.Gln2969Lys) c.8785C>A (p.Gln2929Lys) c.8716C>A (p.Gln2906Lys) c.7120C>A (p.Gln2374Lys) n.9256C>A | |
6 | g.51748637A>C | CA364424365 | PKHD1 | c.8979T>G (p.Ile2993Met) c.8850T>G (p.Ile2950Met) c.8841T>G (p.Ile2947Met) c.8337T>G (p.Ile2779Met) c.8268T>G (p.Ile2756Met) c.3054T>G (p.Ile1018Met) c.8904T>G (p.Ile2968Met) c.8784T>G (p.Ile2928Met) c.8715T>G (p.Ile2905Met) c.7119T>G (p.Ile2373Met) n.9255T>G | |
6 | g.51748637A>G | CA450614181 | PKHD1 | c.8979T>C (p.Ile2993=) c.8850T>C (p.Ile2950=) c.8841T>C (p.Ile2947=) c.8337T>C (p.Ile2779=) c.8268T>C (p.Ile2756=) c.3054T>C (p.Ile1018=) c.8904T>C (p.Ile2968=) c.8784T>C (p.Ile2928=) c.8715T>C (p.Ile2905=) c.7119T>C (p.Ile2373=) n.9255T>C | |
6 | g.51748637A>T | CA450614182 | PKHD1 | c.8979T>A (p.Ile2993=) c.8850T>A (p.Ile2950=) c.8841T>A (p.Ile2947=) c.8337T>A (p.Ile2779=) c.8268T>A (p.Ile2756=) c.3054T>A (p.Ile1018=) c.8904T>A (p.Ile2968=) c.8784T>A (p.Ile2928=) c.8715T>A (p.Ile2905=) c.7119T>A (p.Ile2373=) n.9255T>A | |
6 | g.51748638A>C | CA364424370 | PKHD1 | c.8978T>G (p.Ile2993Ser) c.8849T>G (p.Ile2950Ser) c.8840T>G (p.Ile2947Ser) c.8336T>G (p.Ile2779Ser) c.8267T>G (p.Ile2756Ser) c.3053T>G (p.Ile1018Ser) c.8903T>G (p.Ile2968Ser) c.8783T>G (p.Ile2928Ser) c.8714T>G (p.Ile2905Ser) c.7118T>G (p.Ile2373Ser) n.9254T>G | |
6 | g.51748638A>G | CA364424377 | PKHD1 | c.8978T>C (p.Ile2993Thr) c.8849T>C (p.Ile2950Thr) c.8840T>C (p.Ile2947Thr) c.8336T>C (p.Ile2779Thr) c.8267T>C (p.Ile2756Thr) c.3053T>C (p.Ile1018Thr) c.8903T>C (p.Ile2968Thr) c.8783T>C (p.Ile2928Thr) c.8714T>C (p.Ile2905Thr) c.7118T>C (p.Ile2373Thr) n.9254T>C | |
6 | g.51748638A>T | CA364424373 | PKHD1 | c.8978T>A (p.Ile2993Asn) c.8849T>A (p.Ile2950Asn) c.8840T>A (p.Ile2947Asn) c.8336T>A (p.Ile2779Asn) c.8267T>A (p.Ile2756Asn) c.3053T>A (p.Ile1018Asn) c.8903T>A (p.Ile2968Asn) c.8783T>A (p.Ile2928Asn) c.8714T>A (p.Ile2905Asn) c.7118T>A (p.Ile2373Asn) n.9254T>A | |
6 | g.51748639T>A | CA364424380 | PKHD1 | c.8977A>T (p.Ile2993Phe) c.8848A>T (p.Ile2950Phe) c.8839A>T (p.Ile2947Phe) c.8335A>T (p.Ile2779Phe) c.8266A>T (p.Ile2756Phe) c.3052A>T (p.Ile1018Phe) c.8902A>T (p.Ile2968Phe) c.8782A>T (p.Ile2928Phe) c.8713A>T (p.Ile2905Phe) c.7117A>T (p.Ile2373Phe) n.9253A>T | gnomAD v4 |
6 | g.51748639T>C | CA364424383 | PKHD1 | c.8977A>G (p.Ile2993Val) c.8848A>G (p.Ile2950Val) c.8839A>G (p.Ile2947Val) c.8335A>G (p.Ile2779Val) c.8266A>G (p.Ile2756Val) c.3052A>G (p.Ile1018Val) c.8902A>G (p.Ile2968Val) c.8782A>G (p.Ile2928Val) c.8713A>G (p.Ile2905Val) c.7117A>G (p.Ile2373Val) n.9253A>G | gnomAD v4 |
6 | g.51748639T>G | CA364424385 | PKHD1 | c.8977A>C (p.Ile2993Leu) c.8848A>C (p.Ile2950Leu) c.8839A>C (p.Ile2947Leu) c.8335A>C (p.Ile2779Leu) c.8266A>C (p.Ile2756Leu) c.3052A>C (p.Ile1018Leu) c.8902A>C (p.Ile2968Leu) c.8782A>C (p.Ile2928Leu) c.8713A>C (p.Ile2905Leu) c.7117A>C (p.Ile2373Leu) n.9253A>C | |
6 | g.51748640T>A | CA364424388 | PKHD1 | c.8976A>T (p.Glu2992Asp) c.8847A>T (p.Glu2949Asp) c.8838A>T (p.Glu2946Asp) c.8334A>T (p.Glu2778Asp) c.8265A>T (p.Glu2755Asp) c.3051A>T (p.Glu1017Asp) c.8901A>T (p.Glu2967Asp) c.8781A>T (p.Glu2927Asp) c.8712A>T (p.Glu2904Asp) c.7116A>T (p.Glu2372Asp) n.9252A>T | |
6 | g.51748640T>C | CA450614185 | PKHD1 | c.8976A>G (p.Glu2992=) c.8847A>G (p.Glu2949=) c.8838A>G (p.Glu2946=) c.8334A>G (p.Glu2778=) c.8265A>G (p.Glu2755=) c.3051A>G (p.Glu1017=) c.8901A>G (p.Glu2967=) c.8781A>G (p.Glu2927=) c.8712A>G (p.Glu2904=) c.7116A>G (p.Glu2372=) n.9252A>G | gnomAD v4 |
6 | g.51748640T>G | CA364424389 | PKHD1 | c.8976A>C (p.Glu2992Asp) c.8847A>C (p.Glu2949Asp) c.8838A>C (p.Glu2946Asp) c.8334A>C (p.Glu2778Asp) c.8265A>C (p.Glu2755Asp) c.3051A>C (p.Glu1017Asp) c.8901A>C (p.Glu2967Asp) c.8781A>C (p.Glu2927Asp) c.8712A>C (p.Glu2904Asp) c.7116A>C (p.Glu2372Asp) n.9252A>C | |
6 | g.51748641T>A | CA364424392 | PKHD1 | c.8975A>T (p.Glu2992Val) c.8846A>T (p.Glu2949Val) c.8837A>T (p.Glu2946Val) c.8333A>T (p.Glu2778Val) c.8264A>T (p.Glu2755Val) c.3050A>T (p.Glu1017Val) c.8900A>T (p.Glu2967Val) c.8780A>T (p.Glu2927Val) c.8711A>T (p.Glu2904Val) c.7115A>T (p.Glu2372Val) n.9251A>T | |
6 | g.51748641T>C | CA364424393 | PKHD1 | c.8975A>G (p.Glu2992Gly) c.8846A>G (p.Glu2949Gly) c.8837A>G (p.Glu2946Gly) c.8333A>G (p.Glu2778Gly) c.8264A>G (p.Glu2755Gly) c.3050A>G (p.Glu1017Gly) c.8900A>G (p.Glu2967Gly) c.8780A>G (p.Glu2927Gly) c.8711A>G (p.Glu2904Gly) c.7115A>G (p.Glu2372Gly) n.9251A>G | |
6 | g.51748641T>G | CA364424394 | PKHD1 | c.8975A>C (p.Glu2992Ala) c.8846A>C (p.Glu2949Ala) c.8837A>C (p.Glu2946Ala) c.8333A>C (p.Glu2778Ala) c.8264A>C (p.Glu2755Ala) c.3050A>C (p.Glu1017Ala) c.8900A>C (p.Glu2967Ala) c.8780A>C (p.Glu2927Ala) c.8711A>C (p.Glu2904Ala) c.7115A>C (p.Glu2372Ala) n.9251A>C | |
6 | g.51748642C>A | CA364424396 | PKHD1 | c.8974G>T (p.Glu2992Ter) c.8845G>T (p.Glu2949Ter) c.8836G>T (p.Glu2946Ter) c.8332G>T (p.Glu2778Ter) c.8263G>T (p.Glu2755Ter) c.3049G>T (p.Glu1017Ter) c.8899G>T (p.Glu2967Ter) c.8779G>T (p.Glu2927Ter) c.8710G>T (p.Glu2904Ter) c.7114G>T (p.Glu2372Ter) n.9250G>T | |
6 | g.51748642C>G | CA364424399 | PKHD1 | c.8974G>C (p.Glu2992Gln) c.8845G>C (p.Glu2949Gln) c.8836G>C (p.Glu2946Gln) c.8332G>C (p.Glu2778Gln) c.8263G>C (p.Glu2755Gln) c.3049G>C (p.Glu1017Gln) c.8899G>C (p.Glu2967Gln) c.8779G>C (p.Glu2927Gln) c.8710G>C (p.Glu2904Gln) c.7114G>C (p.Glu2372Gln) n.9250G>C | |
6 | g.51748642C>T | CA364424401 | PKHD1 | c.8974G>A (p.Glu2992Lys) c.8845G>A (p.Glu2949Lys) c.8836G>A (p.Glu2946Lys) c.8332G>A (p.Glu2778Lys) c.8263G>A (p.Glu2755Lys) c.3049G>A (p.Glu1017Lys) c.8899G>A (p.Glu2967Lys) c.8779G>A (p.Glu2927Lys) c.8710G>A (p.Glu2904Lys) c.7114G>A (p.Glu2372Lys) n.9250G>A | |
6 | g.51748643C>A | CA450614188 | PKHD1 | c.8973G>T (p.Val2991=) c.8844G>T (p.Val2948=) c.8835G>T (p.Val2945=) c.8331G>T (p.Val2777=) c.8262G>T (p.Val2754=) c.3048G>T (p.Val1016=) c.8898G>T (p.Val2966=) c.8778G>T (p.Val2926=) c.8709G>T (p.Val2903=) c.7113G>T (p.Val2371=) n.9249G>T | |
6 | g.51748643C>G | CA450614192 | PKHD1 | c.8973G>C (p.Val2991=) c.8844G>C (p.Val2948=) c.8835G>C (p.Val2945=) c.8331G>C (p.Val2777=) c.8262G>C (p.Val2754=) c.3048G>C (p.Val1016=) c.8898G>C (p.Val2966=) c.8778G>C (p.Val2926=) c.8709G>C (p.Val2903=) c.7113G>C (p.Val2371=) n.9249G>C | |
6 | g.51748643C>T | CA450614189 | PKHD1 | c.8973G>A (p.Val2991=) c.8844G>A (p.Val2948=) c.8835G>A (p.Val2945=) c.8331G>A (p.Val2777=) c.8262G>A (p.Val2754=) c.3048G>A (p.Val1016=) c.8898G>A (p.Val2966=) c.8778G>A (p.Val2926=) c.8709G>A (p.Val2903=) c.7113G>A (p.Val2371=) n.9249G>A | COSMIC COSMIC |
6 | g.51748644A>C | CA364424409 | PKHD1 | c.8972T>G (p.Val2991Gly) c.8843T>G (p.Val2948Gly) c.8834T>G (p.Val2945Gly) c.8330T>G (p.Val2777Gly) c.8261T>G (p.Val2754Gly) c.3047T>G (p.Val1016Gly) c.8897T>G (p.Val2966Gly) c.8777T>G (p.Val2926Gly) c.8708T>G (p.Val2903Gly) c.7112T>G (p.Val2371Gly) n.9248T>G | |
6 | g.51748644A>G | CA364424407 | PKHD1 | c.8972T>C (p.Val2991Ala) c.8843T>C (p.Val2948Ala) c.8834T>C (p.Val2945Ala) c.8330T>C (p.Val2777Ala) c.8261T>C (p.Val2754Ala) c.3047T>C (p.Val1016Ala) c.8897T>C (p.Val2966Ala) c.8777T>C (p.Val2926Ala) c.8708T>C (p.Val2903Ala) c.7112T>C (p.Val2371Ala) n.9248T>C | gnomAD v4 |
6 | g.51748644A>T | CA364424403 | PKHD1 | c.8972T>A (p.Val2991Glu) c.8843T>A (p.Val2948Glu) c.8834T>A (p.Val2945Glu) c.8330T>A (p.Val2777Glu) c.8261T>A (p.Val2754Glu) c.3047T>A (p.Val1016Glu) c.8897T>A (p.Val2966Glu) c.8777T>A (p.Val2926Glu) c.8708T>A (p.Val2903Glu) c.7112T>A (p.Val2371Glu) n.9248T>A | |
6 | g.51748645C>A | CA364424414 | PKHD1 | c.8971G>T (p.Val2991Leu) c.8842G>T (p.Val2948Leu) c.8833G>T (p.Val2945Leu) c.8329G>T (p.Val2777Leu) c.8260G>T (p.Val2754Leu) c.3046G>T (p.Val1016Leu) c.8896G>T (p.Val2966Leu) c.8776G>T (p.Val2926Leu) c.8707G>T (p.Val2903Leu) c.7111G>T (p.Val2371Leu) n.9247G>T | |
6 | g.51748645C>G | CA364424418 | PKHD1 | c.8971G>C (p.Val2991Leu) c.8842G>C (p.Val2948Leu) c.8833G>C (p.Val2945Leu) c.8329G>C (p.Val2777Leu) c.8260G>C (p.Val2754Leu) c.3046G>C (p.Val1016Leu) c.8896G>C (p.Val2966Leu) c.8776G>C (p.Val2926Leu) c.8707G>C (p.Val2903Leu) c.7111G>C (p.Val2371Leu) n.9247G>C | |
6 | g.51748645C>T | CA364424420 | PKHD1 | c.8971G>A (p.Val2991Met) c.8842G>A (p.Val2948Met) c.8833G>A (p.Val2945Met) c.8329G>A (p.Val2777Met) c.8260G>A (p.Val2754Met) c.3046G>A (p.Val1016Met) c.8896G>A (p.Val2966Met) c.8776G>A (p.Val2926Met) c.8707G>A (p.Val2903Met) c.7111G>A (p.Val2371Met) n.9247G>A | |
6 | g.51748646A= | CA1628503897 | PKHD1 | c.8970T= (p.Asn2990=) c.8841T= (p.Asn2947=) c.8832T= (p.Asn2944=) c.8328T= (p.Asn2776=) c.8259T= (p.Asn2753=) c.3045T= (p.Asn1015=) c.8895T= (p.Asn2965=) c.8775T= (p.Asn2925=) c.8706T= (p.Asn2902=) c.7110T= (p.Asn2370=) n.9246T= | |
6 | g.51748646A>C | CA364424422 | PKHD1 | c.8970T>G (p.Asn2990Lys) c.8841T>G (p.Asn2947Lys) c.8832T>G (p.Asn2944Lys) c.8328T>G (p.Asn2776Lys) c.8259T>G (p.Asn2753Lys) c.3045T>G (p.Asn1015Lys) c.8895T>G (p.Asn2965Lys) c.8775T>G (p.Asn2925Lys) c.8706T>G (p.Asn2902Lys) c.7110T>G (p.Asn2370Lys) n.9246T>G | |
6 | g.51748646A>G | CA450614196 | PKHD1 | c.8970T>C (p.Asn2990=) c.8841T>C (p.Asn2947=) c.8832T>C (p.Asn2944=) c.8328T>C (p.Asn2776=) c.8259T>C (p.Asn2753=) c.3045T>C (p.Asn1015=) c.8895T>C (p.Asn2965=) c.8775T>C (p.Asn2925=) c.8706T>C (p.Asn2902=) c.7110T>C (p.Asn2370=) n.9246T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748646A>T | CA364424423 | PKHD1 | c.8970T>A (p.Asn2990Lys) c.8841T>A (p.Asn2947Lys) c.8832T>A (p.Asn2944Lys) c.8328T>A (p.Asn2776Lys) c.8259T>A (p.Asn2753Lys) c.3045T>A (p.Asn1015Lys) c.8895T>A (p.Asn2965Lys) c.8775T>A (p.Asn2925Lys) c.8706T>A (p.Asn2902Lys) c.7110T>A (p.Asn2370Lys) n.9246T>A | dbSNP gnomAD v4 |
6 | g.51748647T>A | CA364424424 | PKHD1 | c.8969A>T (p.Asn2990Ile) c.8840A>T (p.Asn2947Ile) c.8831A>T (p.Asn2944Ile) c.8327A>T (p.Asn2776Ile) c.8258A>T (p.Asn2753Ile) c.3044A>T (p.Asn1015Ile) c.8894A>T (p.Asn2965Ile) c.8774A>T (p.Asn2925Ile) c.8705A>T (p.Asn2902Ile) c.7109A>T (p.Asn2370Ile) n.9245A>T | |
6 | g.51748647T>C | CA364424425 | PKHD1 | c.8969A>G (p.Asn2990Ser) c.8840A>G (p.Asn2947Ser) c.8831A>G (p.Asn2944Ser) c.8327A>G (p.Asn2776Ser) c.8258A>G (p.Asn2753Ser) c.3044A>G (p.Asn1015Ser) c.8894A>G (p.Asn2965Ser) c.8774A>G (p.Asn2925Ser) c.8705A>G (p.Asn2902Ser) c.7109A>G (p.Asn2370Ser) n.9245A>G | |
6 | g.51748647T>G | CA364424426 | PKHD1 | c.8969A>C (p.Asn2990Thr) c.8840A>C (p.Asn2947Thr) c.8831A>C (p.Asn2944Thr) c.8327A>C (p.Asn2776Thr) c.8258A>C (p.Asn2753Thr) c.3044A>C (p.Asn1015Thr) c.8894A>C (p.Asn2965Thr) c.8774A>C (p.Asn2925Thr) c.8705A>C (p.Asn2902Thr) c.7109A>C (p.Asn2370Thr) n.9245A>C | |
6 | g.51748648T>A | CA364424429 | PKHD1 | c.8968A>T (p.Asn2990Tyr) c.8839A>T (p.Asn2947Tyr) c.8830A>T (p.Asn2944Tyr) c.8326A>T (p.Asn2776Tyr) c.8257A>T (p.Asn2753Tyr) c.3043A>T (p.Asn1015Tyr) c.8893A>T (p.Asn2965Tyr) c.8773A>T (p.Asn2925Tyr) c.8704A>T (p.Asn2902Tyr) c.7108A>T (p.Asn2370Tyr) n.9244A>T | |
6 | g.51748648T>C | CA364424435 | PKHD1 | c.8968A>G (p.Asn2990Asp) c.8839A>G (p.Asn2947Asp) c.8830A>G (p.Asn2944Asp) c.8326A>G (p.Asn2776Asp) c.8257A>G (p.Asn2753Asp) c.3043A>G (p.Asn1015Asp) c.8893A>G (p.Asn2965Asp) c.8773A>G (p.Asn2925Asp) c.8704A>G (p.Asn2902Asp) c.7108A>G (p.Asn2370Asp) n.9244A>G | |
6 | g.51748648T>G | CA364424438 | PKHD1 | c.8968A>C (p.Asn2990His) c.8839A>C (p.Asn2947His) c.8830A>C (p.Asn2944His) c.8326A>C (p.Asn2776His) c.8257A>C (p.Asn2753His) c.3043A>C (p.Asn1015His) c.8893A>C (p.Asn2965His) c.8773A>C (p.Asn2925His) c.8704A>C (p.Asn2902His) c.7108A>C (p.Asn2370His) n.9244A>C | |
6 | g.51748649A>C | CA450614200 | PKHD1 | c.8967T>G (p.Leu2989=) c.8838T>G (p.Leu2946=) c.8829T>G (p.Leu2943=) c.8325T>G (p.Leu2775=) c.8256T>G (p.Leu2752=) c.3042T>G (p.Leu1014=) c.8892T>G (p.Leu2964=) c.8772T>G (p.Leu2924=) c.8703T>G (p.Leu2901=) c.7107T>G (p.Leu2369=) n.9243T>G | |
6 | g.51748649A>G | CA450614201 | PKHD1 | c.8967T>C (p.Leu2989=) c.8838T>C (p.Leu2946=) c.8829T>C (p.Leu2943=) c.8325T>C (p.Leu2775=) c.8256T>C (p.Leu2752=) c.3042T>C (p.Leu1014=) c.8892T>C (p.Leu2964=) c.8772T>C (p.Leu2924=) c.8703T>C (p.Leu2901=) c.7107T>C (p.Leu2369=) n.9243T>C | |
6 | g.51748649A>T | CA450614202 | PKHD1 | c.8967T>A (p.Leu2989=) c.8838T>A (p.Leu2946=) c.8829T>A (p.Leu2943=) c.8325T>A (p.Leu2775=) c.8256T>A (p.Leu2752=) c.3042T>A (p.Leu1014=) c.8892T>A (p.Leu2964=) c.8772T>A (p.Leu2924=) c.8703T>A (p.Leu2901=) c.7107T>A (p.Leu2369=) n.9243T>A | |
6 | g.51748652_51748654del | CA450614203 | PKHD1 | c.8965_8967del (p.Leu2989del) c.8836_8838del (p.Leu2946del) c.8827_8829del (p.Leu2943del) c.8323_8325del (p.Leu2775del) c.8254_8256del (p.Leu2752del) c.3040_3042del (p.Leu1014del) c.8890_8892del (p.Leu2964del) c.8770_8772del (p.Leu2924del) c.8701_8703del (p.Leu2901del) c.7105_7107del (p.Leu2369del) n.9241_9243del | gnomAD v4 |
6 | g.51748650A>C | CA364424446 | PKHD1 | c.8966T>G (p.Leu2989Arg) c.8837T>G (p.Leu2946Arg) c.8828T>G (p.Leu2943Arg) c.8324T>G (p.Leu2775Arg) c.8255T>G (p.Leu2752Arg) c.3041T>G (p.Leu1014Arg) c.8891T>G (p.Leu2964Arg) c.8771T>G (p.Leu2924Arg) c.8702T>G (p.Leu2901Arg) c.7106T>G (p.Leu2369Arg) n.9242T>G | |
6 | g.51748650A>G | CA364424444 | PKHD1 | c.8966T>C (p.Leu2989Pro) c.8837T>C (p.Leu2946Pro) c.8828T>C (p.Leu2943Pro) c.8324T>C (p.Leu2775Pro) c.8255T>C (p.Leu2752Pro) c.3041T>C (p.Leu1014Pro) c.8891T>C (p.Leu2964Pro) c.8771T>C (p.Leu2924Pro) c.8702T>C (p.Leu2901Pro) c.7106T>C (p.Leu2369Pro) n.9242T>C | |
6 | g.51748650A>T | CA364424441 | PKHD1 | c.8966T>A (p.Leu2989His) c.8837T>A (p.Leu2946His) c.8828T>A (p.Leu2943His) c.8324T>A (p.Leu2775His) c.8255T>A (p.Leu2752His) c.3041T>A (p.Leu1014His) c.8891T>A (p.Leu2964His) c.8771T>A (p.Leu2924His) c.8702T>A (p.Leu2901His) c.7106T>A (p.Leu2369His) n.9242T>A | |
6 | g.51748651G>A | CA3851467 | PKHD1 | c.8965C>T (p.Leu2989Phe) c.8836C>T (p.Leu2946Phe) c.8827C>T (p.Leu2943Phe) c.8323C>T (p.Leu2775Phe) c.8254C>T (p.Leu2752Phe) c.3040C>T (p.Leu1014Phe) c.8890C>T (p.Leu2964Phe) c.8770C>T (p.Leu2924Phe) c.8701C>T (p.Leu2901Phe) c.7105C>T (p.Leu2369Phe) n.9241C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748651G>C | CA364424458 | PKHD1 | c.8965C>G (p.Leu2989Val) c.8836C>G (p.Leu2946Val) c.8827C>G (p.Leu2943Val) c.8323C>G (p.Leu2775Val) c.8254C>G (p.Leu2752Val) c.3040C>G (p.Leu1014Val) c.8890C>G (p.Leu2964Val) c.8770C>G (p.Leu2924Val) c.8701C>G (p.Leu2901Val) c.7105C>G (p.Leu2369Val) n.9241C>G | |
6 | g.51748651G= | CA1628503905 | PKHD1 | c.8965C= (p.Leu2989=) c.8836C= (p.Leu2946=) c.8827C= (p.Leu2943=) c.8323C= (p.Leu2775=) c.8254C= (p.Leu2752=) c.3040C= (p.Leu1014=) c.8890C= (p.Leu2964=) c.8770C= (p.Leu2924=) c.8701C= (p.Leu2901=) c.7105C= (p.Leu2369=) n.9241C= | |
6 | g.51748651G>T | CA364424452 | PKHD1 | c.8965C>A (p.Leu2989Ile) c.8836C>A (p.Leu2946Ile) c.8827C>A (p.Leu2943Ile) c.8323C>A (p.Leu2775Ile) c.8254C>A (p.Leu2752Ile) c.3040C>A (p.Leu1014Ile) c.8890C>A (p.Leu2964Ile) c.8770C>A (p.Leu2924Ile) c.8701C>A (p.Leu2901Ile) c.7105C>A (p.Leu2369Ile) n.9241C>A | |
6 | g.51748652A>C | CA450614209 | PKHD1 | c.8964T>G (p.Leu2988=) c.8835T>G (p.Leu2945=) c.8826T>G (p.Leu2942=) c.8322T>G (p.Leu2774=) c.8253T>G (p.Leu2751=) c.3039T>G (p.Leu1013=) c.8889T>G (p.Leu2963=) c.8769T>G (p.Leu2923=) c.8700T>G (p.Leu2900=) c.7104T>G (p.Leu2368=) n.9240T>G | ClinVar dbSNP gnomAD v4 |
6 | g.51748652A>G | CA450614208 | PKHD1 | c.8964T>C (p.Leu2988=) c.8835T>C (p.Leu2945=) c.8826T>C (p.Leu2942=) c.8322T>C (p.Leu2774=) c.8253T>C (p.Leu2751=) c.3039T>C (p.Leu1013=) c.8889T>C (p.Leu2963=) c.8769T>C (p.Leu2923=) c.8700T>C (p.Leu2900=) c.7104T>C (p.Leu2368=) n.9240T>C | |
6 | g.51748652A>T | CA450614206 | PKHD1 | c.8964T>A (p.Leu2988=) c.8835T>A (p.Leu2945=) c.8826T>A (p.Leu2942=) c.8322T>A (p.Leu2774=) c.8253T>A (p.Leu2751=) c.3039T>A (p.Leu1013=) c.8889T>A (p.Leu2963=) c.8769T>A (p.Leu2923=) c.8700T>A (p.Leu2900=) c.7104T>A (p.Leu2368=) n.9240T>A | |
6 | g.51748653A>C | CA364424459 | PKHD1 | c.8963T>G (p.Leu2988Arg) c.8834T>G (p.Leu2945Arg) c.8825T>G (p.Leu2942Arg) c.8321T>G (p.Leu2774Arg) c.8252T>G (p.Leu2751Arg) c.3038T>G (p.Leu1013Arg) c.8888T>G (p.Leu2963Arg) c.8768T>G (p.Leu2923Arg) c.8699T>G (p.Leu2900Arg) c.7103T>G (p.Leu2368Arg) n.9239T>G | |
6 | g.51748653A>G | CA364424460 | PKHD1 | c.8963T>C (p.Leu2988Pro) c.8834T>C (p.Leu2945Pro) c.8825T>C (p.Leu2942Pro) c.8321T>C (p.Leu2774Pro) c.8252T>C (p.Leu2751Pro) c.3038T>C (p.Leu1013Pro) c.8888T>C (p.Leu2963Pro) c.8768T>C (p.Leu2923Pro) c.8699T>C (p.Leu2900Pro) c.7103T>C (p.Leu2368Pro) n.9239T>C | |
6 | g.51748653A>T | CA364424463 | PKHD1 | c.8963T>A (p.Leu2988His) c.8834T>A (p.Leu2945His) c.8825T>A (p.Leu2942His) c.8321T>A (p.Leu2774His) c.8252T>A (p.Leu2751His) c.3038T>A (p.Leu1013His) c.8888T>A (p.Leu2963His) c.8768T>A (p.Leu2923His) c.8699T>A (p.Leu2900His) c.7103T>A (p.Leu2368His) n.9239T>A | ClinVar |
6 | g.51748654G>A | CA364424464 | PKHD1 | c.8962C>T (p.Leu2988Phe) c.8833C>T (p.Leu2945Phe) c.8824C>T (p.Leu2942Phe) c.8320C>T (p.Leu2774Phe) c.8251C>T (p.Leu2751Phe) c.3037C>T (p.Leu1013Phe) c.8887C>T (p.Leu2963Phe) c.8767C>T (p.Leu2923Phe) c.8698C>T (p.Leu2900Phe) c.7102C>T (p.Leu2368Phe) n.9238C>T | |
6 | g.51748654G>C | CA364424465 | PKHD1 | c.8962C>G (p.Leu2988Val) c.8833C>G (p.Leu2945Val) c.8824C>G (p.Leu2942Val) c.8320C>G (p.Leu2774Val) c.8251C>G (p.Leu2751Val) c.3037C>G (p.Leu1013Val) c.8887C>G (p.Leu2963Val) c.8767C>G (p.Leu2923Val) c.8698C>G (p.Leu2900Val) c.7102C>G (p.Leu2368Val) n.9238C>G | |
6 | g.51748654G>T | CA364424466 | PKHD1 | c.8962C>A (p.Leu2988Ile) c.8833C>A (p.Leu2945Ile) c.8824C>A (p.Leu2942Ile) c.8320C>A (p.Leu2774Ile) c.8251C>A (p.Leu2751Ile) c.3037C>A (p.Leu1013Ile) c.8887C>A (p.Leu2963Ile) c.8767C>A (p.Leu2923Ile) c.8698C>A (p.Leu2900Ile) c.7102C>A (p.Leu2368Ile) n.9238C>A | |
6 | g.51748655T>A | CA364424470 | PKHD1 | c.8961A>T (p.Gln2987His) c.8832A>T (p.Gln2944His) c.8823A>T (p.Gln2941His) c.8319A>T (p.Gln2773His) c.8250A>T (p.Gln2750His) c.3036A>T (p.Gln1012His) c.8886A>T (p.Gln2962His) c.8766A>T (p.Gln2922His) c.8697A>T (p.Gln2899His) c.7101A>T (p.Gln2367His) n.9237A>T | |
6 | g.51748655T>C | CA3851468 | PKHD1 | c.8961A>G (p.Gln2987=) c.8832A>G (p.Gln2944=) c.8823A>G (p.Gln2941=) c.8319A>G (p.Gln2773=) c.8250A>G (p.Gln2750=) c.3036A>G (p.Gln1012=) c.8886A>G (p.Gln2962=) c.8766A>G (p.Gln2922=) c.8697A>G (p.Gln2899=) c.7101A>G (p.Gln2367=) n.9237A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748655T>G | CA364424474 | PKHD1 | c.8961A>C (p.Gln2987His) c.8832A>C (p.Gln2944His) c.8823A>C (p.Gln2941His) c.8319A>C (p.Gln2773His) c.8250A>C (p.Gln2750His) c.3036A>C (p.Gln1012His) c.8886A>C (p.Gln2962His) c.8766A>C (p.Gln2922His) c.8697A>C (p.Gln2899His) c.7101A>C (p.Gln2367His) n.9237A>C | |
6 | g.51748655T= | CA1628503909 | PKHD1 | c.8961A= (p.Gln2987=) c.8832A= (p.Gln2944=) c.8823A= (p.Gln2941=) c.8319A= (p.Gln2773=) c.8250A= (p.Gln2750=) c.3036A= (p.Gln1012=) c.8886A= (p.Gln2962=) c.8766A= (p.Gln2922=) c.8697A= (p.Gln2899=) c.7101A= (p.Gln2367=) n.9237A= | |
6 | g.51748656T>A | CA364424475 | PKHD1 | c.8960A>T (p.Gln2987Leu) c.8831A>T (p.Gln2944Leu) c.8822A>T (p.Gln2941Leu) c.8318A>T (p.Gln2773Leu) c.8249A>T (p.Gln2750Leu) c.3035A>T (p.Gln1012Leu) c.8885A>T (p.Gln2962Leu) c.8765A>T (p.Gln2922Leu) c.8696A>T (p.Gln2899Leu) c.7100A>T (p.Gln2367Leu) n.9236A>T | |
6 | g.51748656T>C | CA364424476 | PKHD1 | c.8960A>G (p.Gln2987Arg) c.8831A>G (p.Gln2944Arg) c.8822A>G (p.Gln2941Arg) c.8318A>G (p.Gln2773Arg) c.8249A>G (p.Gln2750Arg) c.3035A>G (p.Gln1012Arg) c.8885A>G (p.Gln2962Arg) c.8765A>G (p.Gln2922Arg) c.8696A>G (p.Gln2899Arg) c.7100A>G (p.Gln2367Arg) n.9236A>G | |
6 | g.51748656T>G | CA364424477 | PKHD1 | c.8960A>C (p.Gln2987Pro) c.8831A>C (p.Gln2944Pro) c.8822A>C (p.Gln2941Pro) c.8318A>C (p.Gln2773Pro) c.8249A>C (p.Gln2750Pro) c.3035A>C (p.Gln1012Pro) c.8885A>C (p.Gln2962Pro) c.8765A>C (p.Gln2922Pro) c.8696A>C (p.Gln2899Pro) c.7100A>C (p.Gln2367Pro) n.9236A>C | |
6 | g.51748657G>A | CA364424480 | PKHD1 | c.8959C>T (p.Gln2987Ter) c.8830C>T (p.Gln2944Ter) c.8821C>T (p.Gln2941Ter) c.8317C>T (p.Gln2773Ter) c.8248C>T (p.Gln2750Ter) c.3034C>T (p.Gln1012Ter) c.8884C>T (p.Gln2962Ter) c.8764C>T (p.Gln2922Ter) c.8695C>T (p.Gln2899Ter) c.7099C>T (p.Gln2367Ter) n.9235C>T | COSMIC COSMIC |
6 | g.51748657G>C | CA364424490 | PKHD1 | c.8959C>G (p.Gln2987Glu) c.8830C>G (p.Gln2944Glu) c.8821C>G (p.Gln2941Glu) c.8317C>G (p.Gln2773Glu) c.8248C>G (p.Gln2750Glu) c.3034C>G (p.Gln1012Glu) c.8884C>G (p.Gln2962Glu) c.8764C>G (p.Gln2922Glu) c.8695C>G (p.Gln2899Glu) c.7099C>G (p.Gln2367Glu) n.9235C>G | |
6 | g.51748657G>T | CA364424482 | PKHD1 | c.8959C>A (p.Gln2987Lys) c.8830C>A (p.Gln2944Lys) c.8821C>A (p.Gln2941Lys) c.8317C>A (p.Gln2773Lys) c.8248C>A (p.Gln2750Lys) c.3034C>A (p.Gln1012Lys) c.8884C>A (p.Gln2962Lys) c.8764C>A (p.Gln2922Lys) c.8695C>A (p.Gln2899Lys) c.7099C>A (p.Gln2367Lys) n.9235C>A | |
6 | g.51748657_51748658delinsGA | CA1628503921 | PKHD1 | c.8958_8959delinsTC (p.Leu2986=) c.8829_8830delinsTC (p.Leu2943=) c.8820_8821delinsTC (p.Leu2940=) c.8316_8317delinsTC (p.Leu2772=) c.8247_8248delinsTC (p.Leu2749=) c.3033_3034delinsTC (p.Leu1011=) c.8883_8884delinsTC (p.Leu2961=) c.8763_8764delinsTC (p.Leu2921=) c.8694_8695delinsTC (p.Leu2898=) c.7098_7099delinsTC (p.Leu2366=) n.9234_9235delinsTC | |
6 | g.51748658A>C | CA450614215 | PKHD1 | c.8958T>G (p.Leu2986=) c.8829T>G (p.Leu2943=) c.8820T>G (p.Leu2940=) c.8316T>G (p.Leu2772=) c.8247T>G (p.Leu2749=) c.3033T>G (p.Leu1011=) c.8883T>G (p.Leu2961=) c.8763T>G (p.Leu2921=) c.8694T>G (p.Leu2898=) c.7098T>G (p.Leu2366=) n.9234T>G | |
6 | g.51748658A>G | CA450614216 | PKHD1 | c.8958T>C (p.Leu2986=) c.8829T>C (p.Leu2943=) c.8820T>C (p.Leu2940=) c.8316T>C (p.Leu2772=) c.8247T>C (p.Leu2749=) c.3033T>C (p.Leu1011=) c.8883T>C (p.Leu2961=) c.8763T>C (p.Leu2921=) c.8694T>C (p.Leu2898=) c.7098T>C (p.Leu2366=) n.9234T>C | |
6 | g.51748658A>T | CA450614217 | PKHD1 | c.8958T>A (p.Leu2986=) c.8829T>A (p.Leu2943=) c.8820T>A (p.Leu2940=) c.8316T>A (p.Leu2772=) c.8247T>A (p.Leu2749=) c.3033T>A (p.Leu1011=) c.8883T>A (p.Leu2961=) c.8763T>A (p.Leu2921=) c.8694T>A (p.Leu2898=) c.7098T>A (p.Leu2366=) n.9234T>A | |
6 | g.51748659del | CA16041034 | PKHD1 | c.8958del (p.Gln2987AsnfsTer?) c.8829del (p.Gln2944AsnfsTer?) c.8820del (p.Gln2941AsnfsTer?) c.8316del (p.Gln2773AsnfsTer?) c.8247del (p.Gln2750AsnfsTer?) c.3033del (p.Gln1012AsnfsTer?) c.8883del (p.Gln2962AsnfsTer?) c.8763del (p.Gln2922AsnfsTer?) c.8694del (p.Gln2899AsnfsTer?) c.7098del (p.Gln2367AsnfsTer?) n.9234del | ClinVar dbSNP |
6 | g.51748659A>C | CA364424498 | PKHD1 | c.8957T>G (p.Leu2986Arg) c.8828T>G (p.Leu2943Arg) c.8819T>G (p.Leu2940Arg) c.8315T>G (p.Leu2772Arg) c.8246T>G (p.Leu2749Arg) c.3032T>G (p.Leu1011Arg) c.8882T>G (p.Leu2961Arg) c.8762T>G (p.Leu2921Arg) c.8693T>G (p.Leu2898Arg) c.7097T>G (p.Leu2366Arg) n.9233T>G | |
6 | g.51748659A>G | CA364424505 | PKHD1 | c.8957T>C (p.Leu2986Pro) c.8828T>C (p.Leu2943Pro) c.8819T>C (p.Leu2940Pro) c.8315T>C (p.Leu2772Pro) c.8246T>C (p.Leu2749Pro) c.3032T>C (p.Leu1011Pro) c.8882T>C (p.Leu2961Pro) c.8762T>C (p.Leu2921Pro) c.8693T>C (p.Leu2898Pro) c.7097T>C (p.Leu2366Pro) n.9233T>C | |
6 | g.51748659A>T | CA364424513 | PKHD1 | c.8957T>A (p.Leu2986His) c.8828T>A (p.Leu2943His) c.8819T>A (p.Leu2940His) c.8315T>A (p.Leu2772His) c.8246T>A (p.Leu2749His) c.3032T>A (p.Leu1011His) c.8882T>A (p.Leu2961His) c.8762T>A (p.Leu2921His) c.8693T>A (p.Leu2898His) c.7097T>A (p.Leu2366His) n.9233T>A | |
6 | g.51748660G>A | CA364424516 | PKHD1 | c.8956C>T (p.Leu2986Phe) c.8827C>T (p.Leu2943Phe) c.8818C>T (p.Leu2940Phe) c.8314C>T (p.Leu2772Phe) c.8245C>T (p.Leu2749Phe) c.3031C>T (p.Leu1011Phe) c.8881C>T (p.Leu2961Phe) c.8761C>T (p.Leu2921Phe) c.8692C>T (p.Leu2898Phe) c.7096C>T (p.Leu2366Phe) n.9232C>T | |
6 | g.51748660G>C | CA364424521 | PKHD1 | c.8956C>G (p.Leu2986Val) c.8827C>G (p.Leu2943Val) c.8818C>G (p.Leu2940Val) c.8314C>G (p.Leu2772Val) c.8245C>G (p.Leu2749Val) c.3031C>G (p.Leu1011Val) c.8881C>G (p.Leu2961Val) c.8761C>G (p.Leu2921Val) c.8692C>G (p.Leu2898Val) c.7096C>G (p.Leu2366Val) n.9232C>G | |
6 | g.51748660G>T | CA364424522 | PKHD1 | c.8956C>A (p.Leu2986Ile) c.8827C>A (p.Leu2943Ile) c.8818C>A (p.Leu2940Ile) c.8314C>A (p.Leu2772Ile) c.8245C>A (p.Leu2749Ile) c.3031C>A (p.Leu1011Ile) c.8881C>A (p.Leu2961Ile) c.8761C>A (p.Leu2921Ile) c.8692C>A (p.Leu2898Ile) c.7096C>A (p.Leu2366Ile) n.9232C>A | |
6 | g.51748661del | CA2597157280 | PKHD1 | c.8956del (p.Leu2986PhefsTer?) c.8827del (p.Leu2943PhefsTer?) c.8818del (p.Leu2940PhefsTer?) c.8314del (p.Leu2772PhefsTer?) c.8245del (p.Leu2749PhefsTer?) c.3031del (p.Leu1011PhefsTer?) c.8881del (p.Leu2961PhefsTer?) c.8761del (p.Leu2921PhefsTer?) c.8692del (p.Leu2898PhefsTer?) c.7096del (p.Leu2366PhefsTer?) n.9232del | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748661G>A | CA450614223 | PKHD1 | c.8955C>T (p.Val2985=) c.8826C>T (p.Val2942=) c.8817C>T (p.Val2939=) c.8313C>T (p.Val2771=) c.8244C>T (p.Val2748=) c.3030C>T (p.Val1010=) c.8880C>T (p.Val2960=) c.8760C>T (p.Val2920=) c.8691C>T (p.Val2897=) c.7095C>T (p.Val2365=) n.9231C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748661G>C | CA450614224 | PKHD1 | c.8955C>G (p.Val2985=) c.8826C>G (p.Val2942=) c.8817C>G (p.Val2939=) c.8313C>G (p.Val2771=) c.8244C>G (p.Val2748=) c.3030C>G (p.Val1010=) c.8880C>G (p.Val2960=) c.8760C>G (p.Val2920=) c.8691C>G (p.Val2897=) c.7095C>G (p.Val2365=) n.9231C>G | |
6 | g.51748661G= | CA1628503932 | PKHD1 | c.8955C= (p.Val2985=) c.8826C= (p.Val2942=) c.8817C= (p.Val2939=) c.8313C= (p.Val2771=) c.8244C= (p.Val2748=) c.3030C= (p.Val1010=) c.8880C= (p.Val2960=) c.8760C= (p.Val2920=) c.8691C= (p.Val2897=) c.7095C= (p.Val2365=) n.9231C= | |
6 | g.51748661G>T | CA450614226 | PKHD1 | c.8955C>A (p.Val2985=) c.8826C>A (p.Val2942=) c.8817C>A (p.Val2939=) c.8313C>A (p.Val2771=) c.8244C>A (p.Val2748=) c.3030C>A (p.Val1010=) c.8880C>A (p.Val2960=) c.8760C>A (p.Val2920=) c.8691C>A (p.Val2897=) c.7095C>A (p.Val2365=) n.9231C>A | ClinVar dbSNP |
6 | g.51748662A>C | CA364424525 | PKHD1 | c.8954T>G (p.Val2985Gly) c.8825T>G (p.Val2942Gly) c.8816T>G (p.Val2939Gly) c.8312T>G (p.Val2771Gly) c.8243T>G (p.Val2748Gly) c.3029T>G (p.Val1010Gly) c.8879T>G (p.Val2960Gly) c.8759T>G (p.Val2920Gly) c.8690T>G (p.Val2897Gly) c.7094T>G (p.Val2365Gly) n.9230T>G | |
6 | g.51748662A>G | CA364424528 | PKHD1 | c.8954T>C (p.Val2985Ala) c.8825T>C (p.Val2942Ala) c.8816T>C (p.Val2939Ala) c.8312T>C (p.Val2771Ala) c.8243T>C (p.Val2748Ala) c.3029T>C (p.Val1010Ala) c.8879T>C (p.Val2960Ala) c.8759T>C (p.Val2920Ala) c.8690T>C (p.Val2897Ala) c.7094T>C (p.Val2365Ala) n.9230T>C | |
6 | g.51748662A>T | CA364424530 | PKHD1 | c.8954T>A (p.Val2985Asp) c.8825T>A (p.Val2942Asp) c.8816T>A (p.Val2939Asp) c.8312T>A (p.Val2771Asp) c.8243T>A (p.Val2748Asp) c.3029T>A (p.Val1010Asp) c.8879T>A (p.Val2960Asp) c.8759T>A (p.Val2920Asp) c.8690T>A (p.Val2897Asp) c.7094T>A (p.Val2365Asp) n.9230T>A | |
6 | g.51748663C>A | CA364424534 | PKHD1 | c.8953G>T (p.Val2985Phe) c.8824G>T (p.Val2942Phe) c.8815G>T (p.Val2939Phe) c.8311G>T (p.Val2771Phe) c.8242G>T (p.Val2748Phe) c.3028G>T (p.Val1010Phe) c.8878G>T (p.Val2960Phe) c.8758G>T (p.Val2920Phe) c.8689G>T (p.Val2897Phe) c.7093G>T (p.Val2365Phe) n.9229G>T | gnomAD v4 |
6 | g.51748663C>G | CA364424536 | PKHD1 | c.8953G>C (p.Val2985Leu) c.8824G>C (p.Val2942Leu) c.8815G>C (p.Val2939Leu) c.8311G>C (p.Val2771Leu) c.8242G>C (p.Val2748Leu) c.3028G>C (p.Val1010Leu) c.8878G>C (p.Val2960Leu) c.8758G>C (p.Val2920Leu) c.8689G>C (p.Val2897Leu) c.7093G>C (p.Val2365Leu) n.9229G>C | |
6 | g.51748663C>T | CA364424533 | PKHD1 | c.8953G>A (p.Val2985Ile) c.8824G>A (p.Val2942Ile) c.8815G>A (p.Val2939Ile) c.8311G>A (p.Val2771Ile) c.8242G>A (p.Val2748Ile) c.3028G>A (p.Val1010Ile) c.8878G>A (p.Val2960Ile) c.8758G>A (p.Val2920Ile) c.8689G>A (p.Val2897Ile) c.7093G>A (p.Val2365Ile) n.9229G>A | |
6 | g.51748664A= | CA1628503936 | PKHD1 | c.8952T= (p.Gly2984=) c.8823T= (p.Gly2941=) c.8814T= (p.Gly2938=) c.8310T= (p.Gly2770=) c.8241T= (p.Gly2747=) c.3027T= (p.Gly1009=) c.8877T= (p.Gly2959=) c.8757T= (p.Gly2919=) c.8688T= (p.Gly2896=) c.7092T= (p.Gly2364=) n.9228T= | |
6 | g.51748664A>C | CA450614234 | PKHD1 | c.8952T>G (p.Gly2984=) c.8823T>G (p.Gly2941=) c.8814T>G (p.Gly2938=) c.8310T>G (p.Gly2770=) c.8241T>G (p.Gly2747=) c.3027T>G (p.Gly1009=) c.8877T>G (p.Gly2959=) c.8757T>G (p.Gly2919=) c.8688T>G (p.Gly2896=) c.7092T>G (p.Gly2364=) n.9228T>G | |
6 | g.51748664A>G | CA450614238 | PKHD1 | c.8952T>C (p.Gly2984=) c.8823T>C (p.Gly2941=) c.8814T>C (p.Gly2938=) c.8310T>C (p.Gly2770=) c.8241T>C (p.Gly2747=) c.3027T>C (p.Gly1009=) c.8877T>C (p.Gly2959=) c.8757T>C (p.Gly2919=) c.8688T>C (p.Gly2896=) c.7092T>C (p.Gly2364=) n.9228T>C | dbSNP |
6 | g.51748664A>T | CA450614236 | PKHD1 | c.8952T>A (p.Gly2984=) c.8823T>A (p.Gly2941=) c.8814T>A (p.Gly2938=) c.8310T>A (p.Gly2770=) c.8241T>A (p.Gly2747=) c.3027T>A (p.Gly1009=) c.8877T>A (p.Gly2959=) c.8757T>A (p.Gly2919=) c.8688T>A (p.Gly2896=) c.7092T>A (p.Gly2364=) n.9228T>A | gnomAD v4 |
6 | g.51748665C>A | CA364424540 | PKHD1 | c.8951G>T (p.Gly2984Val) c.8822G>T (p.Gly2941Val) c.8813G>T (p.Gly2938Val) c.8309G>T (p.Gly2770Val) c.8240G>T (p.Gly2747Val) c.3026G>T (p.Gly1009Val) c.8876G>T (p.Gly2959Val) c.8756G>T (p.Gly2919Val) c.8687G>T (p.Gly2896Val) c.7091G>T (p.Gly2364Val) n.9227G>T | |
6 | g.51748665C= | CA1628503940 | PKHD1 | c.8951G= (p.Gly2984=) c.8822G= (p.Gly2941=) c.8813G= (p.Gly2938=) c.8309G= (p.Gly2770=) c.8240G= (p.Gly2747=) c.3026G= (p.Gly1009=) c.8876G= (p.Gly2959=) c.8756G= (p.Gly2919=) c.8687G= (p.Gly2896=) c.7091G= (p.Gly2364=) n.9227G= | |
6 | g.51748665C>G | CA10654916 | PKHD1 | c.8951G>C (p.Gly2984Ala) c.8822G>C (p.Gly2941Ala) c.8813G>C (p.Gly2938Ala) c.8309G>C (p.Gly2770Ala) c.8240G>C (p.Gly2747Ala) c.3026G>C (p.Gly1009Ala) c.8876G>C (p.Gly2959Ala) c.8756G>C (p.Gly2919Ala) c.8687G>C (p.Gly2896Ala) c.7091G>C (p.Gly2364Ala) n.9227G>C | ClinVar dbSNP |
6 | g.51748665C>T | CA364424546 | PKHD1 | c.8951G>A (p.Gly2984Asp) c.8822G>A (p.Gly2941Asp) c.8813G>A (p.Gly2938Asp) c.8309G>A (p.Gly2770Asp) c.8240G>A (p.Gly2747Asp) c.3026G>A (p.Gly1009Asp) c.8876G>A (p.Gly2959Asp) c.8756G>A (p.Gly2919Asp) c.8687G>A (p.Gly2896Asp) c.7091G>A (p.Gly2364Asp) n.9227G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748666C>A | CA364424551 | PKHD1 | c.8951-1G>T (n.8951-1G>T) c.8822-1G>T (n.8822-1G>T) c.8813-1G>T (n.8813-1G>T) c.8309-1G>T (n.8309-1G>T) c.8240-1G>T (n.8240-1G>T) c.3026-1G>T (n.3026-1G>T) c.8876-1G>T (n.8876-1G>T) c.8756-1G>T (n.8756-1G>T) c.8687-1G>T (n.8687-1G>T) c.7091-1G>T (n.7091-1G>T) n.9227-1G>T | |
6 | g.51748666C>G | CA364424552 | PKHD1 | c.8951-1G>C (n.8951-1G>C) c.8822-1G>C (n.8822-1G>C) c.8813-1G>C (n.8813-1G>C) c.8309-1G>C (n.8309-1G>C) c.8240-1G>C (n.8240-1G>C) c.3026-1G>C (n.3026-1G>C) c.8876-1G>C (n.8876-1G>C) c.8756-1G>C (n.8756-1G>C) c.8687-1G>C (n.8687-1G>C) c.7091-1G>C (n.7091-1G>C) n.9227-1G>C | |
6 | g.51748666C>T | CA364424554 | PKHD1 | c.8951-1G>A (n.8951-1G>A) c.8822-1G>A (n.8822-1G>A) c.8813-1G>A (n.8813-1G>A) c.8309-1G>A (n.8309-1G>A) c.8240-1G>A (n.8240-1G>A) c.3026-1G>A (n.3026-1G>A) c.8876-1G>A (n.8876-1G>A) c.8756-1G>A (n.8756-1G>A) c.8687-1G>A (n.8687-1G>A) c.7091-1G>A (n.7091-1G>A) n.9227-1G>A | gnomAD v4 |
6 | g.51748667T>A | CA364424559 | PKHD1 | c.8951-2A>T (n.8951-2A>T) c.8822-2A>T (n.8822-2A>T) c.8813-2A>T (n.8813-2A>T) c.8309-2A>T (n.8309-2A>T) c.8240-2A>T (n.8240-2A>T) c.3026-2A>T (n.3026-2A>T) c.8876-2A>T (n.8876-2A>T) c.8756-2A>T (n.8756-2A>T) c.8687-2A>T (n.8687-2A>T) c.7091-2A>T (n.7091-2A>T) n.9227-2A>T | |
6 | g.51748667T>C | CA364424563 | PKHD1 | c.8951-2A>G (n.8951-2A>G) c.8822-2A>G (n.8822-2A>G) c.8813-2A>G (n.8813-2A>G) c.8309-2A>G (n.8309-2A>G) c.8240-2A>G (n.8240-2A>G) c.3026-2A>G (n.3026-2A>G) c.8876-2A>G (n.8876-2A>G) c.8756-2A>G (n.8756-2A>G) c.8687-2A>G (n.8687-2A>G) c.7091-2A>G (n.7091-2A>G) n.9227-2A>G | |
6 | g.51748667T>G | CA364424564 | PKHD1 | c.8951-2A>C (n.8951-2A>C) c.8822-2A>C (n.8822-2A>C) c.8813-2A>C (n.8813-2A>C) c.8309-2A>C (n.8309-2A>C) c.8240-2A>C (n.8240-2A>C) c.3026-2A>C (n.3026-2A>C) c.8876-2A>C (n.8876-2A>C) c.8756-2A>C (n.8756-2A>C) c.8687-2A>C (n.8687-2A>C) c.7091-2A>C (n.7091-2A>C) n.9227-2A>C | |
6 | g.51748668A>G | CA2679078644 | PKHD1 | c.8951-3T>C (n.8951-3T>C) c.8822-3T>C (n.8822-3T>C) c.8813-3T>C (n.8813-3T>C) c.8309-3T>C (n.8309-3T>C) c.8240-3T>C (n.8240-3T>C) c.3026-3T>C (n.3026-3T>C) c.8876-3T>C (n.8876-3T>C) c.8756-3T>C (n.8756-3T>C) c.8687-3T>C (n.8687-3T>C) c.7091-3T>C (n.7091-3T>C) n.9227-3T>C | gnomAD v4 |
6 | g.51748669T>A | CA2573140943 | PKHD1 | c.8951-4A>T (n.8951-4A>T) c.8822-4A>T (n.8822-4A>T) c.8813-4A>T (n.8813-4A>T) c.8309-4A>T (n.8309-4A>T) c.8240-4A>T (n.8240-4A>T) c.3026-4A>T (n.3026-4A>T) c.8876-4A>T (n.8876-4A>T) c.8756-4A>T (n.8756-4A>T) c.8687-4A>T (n.8687-4A>T) c.7091-4A>T (n.7091-4A>T) n.9227-4A>T | ClinVar dbSNP gnomAD v4 |
6 | g.51748669T>C | CA2580075502 | PKHD1 | c.8951-4A>G (n.8951-4A>G) c.8822-4A>G (n.8822-4A>G) c.8813-4A>G (n.8813-4A>G) c.8309-4A>G (n.8309-4A>G) c.8240-4A>G (n.8240-4A>G) c.3026-4A>G (n.3026-4A>G) c.8876-4A>G (n.8876-4A>G) c.8756-4A>G (n.8756-4A>G) c.8687-4A>G (n.8687-4A>G) c.7091-4A>G (n.7091-4A>G) n.9227-4A>G | ClinVar dbSNP gnomAD v4 |
6 | g.51748672del | CA2499218345 | PKHD1 | c.8951-5del (n.8951-5del) c.8822-5del (n.8822-5del) c.8813-5del (n.8813-5del) c.8309-5del (n.8309-5del) c.8240-5del (n.8240-5del) c.3026-5del (n.3026-5del) c.8876-5del (n.8876-5del) c.8756-5del (n.8756-5del) c.8687-5del (n.8687-5del) c.7091-5del (n.7091-5del) n.9227-5del | ClinVar dbSNP gnomAD v4 |
6 | g.51748671A>C | CA2679078645 | PKHD1 | c.8951-6T>G (n.8951-6T>G) c.8822-6T>G (n.8822-6T>G) c.8813-6T>G (n.8813-6T>G) c.8309-6T>G (n.8309-6T>G) c.8240-6T>G (n.8240-6T>G) c.3026-6T>G (n.3026-6T>G) c.8876-6T>G (n.8876-6T>G) c.8756-6T>G (n.8756-6T>G) c.8687-6T>G (n.8687-6T>G) c.7091-6T>G (n.7091-6T>G) n.9227-6T>G | gnomAD v4 |
6 | g.51748672A= | CA1628503945 | PKHD1 | c.8951-7T= (n.8951-7T=) c.8822-7T= (n.8822-7T=) c.8813-7T= (n.8813-7T=) c.8309-7T= (n.8309-7T=) c.8240-7T= (n.8240-7T=) c.3026-7T= (n.3026-7T=) c.8876-7T= (n.8876-7T=) c.8756-7T= (n.8756-7T=) c.8687-7T= (n.8687-7T=) c.7091-7T= (n.7091-7T=) n.9227-7T= | |
6 | g.51748672A>C | CA3851469 | PKHD1 | c.8951-7T>G (n.8951-7T>G) c.8822-7T>G (n.8822-7T>G) c.8813-7T>G (n.8813-7T>G) c.8309-7T>G (n.8309-7T>G) c.8240-7T>G (n.8240-7T>G) c.3026-7T>G (n.3026-7T>G) c.8876-7T>G (n.8876-7T>G) c.8756-7T>G (n.8756-7T>G) c.8687-7T>G (n.8687-7T>G) c.7091-7T>G (n.7091-7T>G) n.9227-7T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.51748672A>G | CA2501100138 | PKHD1 | c.8951-7T>C (n.8951-7T>C) c.8822-7T>C (n.8822-7T>C) c.8813-7T>C (n.8813-7T>C) c.8309-7T>C (n.8309-7T>C) c.8240-7T>C (n.8240-7T>C) c.3026-7T>C (n.3026-7T>C) c.8876-7T>C (n.8876-7T>C) c.8756-7T>C (n.8756-7T>C) c.8687-7T>C (n.8687-7T>C) c.7091-7T>C (n.7091-7T>C) n.9227-7T>C | |
6 | g.51748673C>T | CA2679078646 | PKHD1 | c.8951-8G>A (n.8951-8G>A) c.8822-8G>A (n.8822-8G>A) c.8813-8G>A (n.8813-8G>A) c.8309-8G>A (n.8309-8G>A) c.8240-8G>A (n.8240-8G>A) c.3026-8G>A (n.3026-8G>A) c.8876-8G>A (n.8876-8G>A) c.8756-8G>A (n.8756-8G>A) c.8687-8G>A (n.8687-8G>A) c.7091-8G>A (n.7091-8G>A) n.9227-8G>A | gnomAD v4 |
6 | g.51748674A>C | CA2499218346 | PKHD1 | c.8951-9T>G (n.8951-9T>G) c.8822-9T>G (n.8822-9T>G) c.8813-9T>G (n.8813-9T>G) c.8309-9T>G (n.8309-9T>G) c.8240-9T>G (n.8240-9T>G) c.3026-9T>G (n.3026-9T>G) c.8876-9T>G (n.8876-9T>G) c.8756-9T>G (n.8756-9T>G) c.8687-9T>G (n.8687-9T>G) c.7091-9T>G (n.7091-9T>G) n.9227-9T>G | ClinVar dbSNP |
6 | g.51748677T>A | CA2697553464 | PKHD1 | c.8951-12A>T (n.8951-12A>T) c.8822-12A>T (n.8822-12A>T) c.8813-12A>T (n.8813-12A>T) c.8309-12A>T (n.8309-12A>T) c.8240-12A>T (n.8240-12A>T) c.3026-12A>T (n.3026-12A>T) c.8876-12A>T (n.8876-12A>T) c.8756-12A>T (n.8756-12A>T) c.8687-12A>T (n.8687-12A>T) c.7091-12A>T (n.7091-12A>T) n.9227-12A>T | ClinVar |
6 | g.51748677T>C | CA138896847 | PKHD1 | c.8951-12A>G (n.8951-12A>G) c.8822-12A>G (n.8822-12A>G) c.8813-12A>G (n.8813-12A>G) c.8309-12A>G (n.8309-12A>G) c.8240-12A>G (n.8240-12A>G) c.3026-12A>G (n.3026-12A>G) c.8876-12A>G (n.8876-12A>G) c.8756-12A>G (n.8756-12A>G) c.8687-12A>G (n.8687-12A>G) c.7091-12A>G (n.7091-12A>G) n.9227-12A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748677T>G | CA2679078647 | PKHD1 | c.8951-12A>C (n.8951-12A>C) c.8822-12A>C (n.8822-12A>C) c.8813-12A>C (n.8813-12A>C) c.8309-12A>C (n.8309-12A>C) c.8240-12A>C (n.8240-12A>C) c.3026-12A>C (n.3026-12A>C) c.8876-12A>C (n.8876-12A>C) c.8756-12A>C (n.8756-12A>C) c.8687-12A>C (n.8687-12A>C) c.7091-12A>C (n.7091-12A>C) n.9227-12A>C | gnomAD v4 |
6 | g.51748677T= | CA1628503949 | PKHD1 | c.8951-12A= (n.8951-12A=) c.8822-12A= (n.8822-12A=) c.8813-12A= (n.8813-12A=) c.8309-12A= (n.8309-12A=) c.8240-12A= (n.8240-12A=) c.3026-12A= (n.3026-12A=) c.8876-12A= (n.8876-12A=) c.8756-12A= (n.8756-12A=) c.8687-12A= (n.8687-12A=) c.7091-12A= (n.7091-12A=) n.9227-12A= | |
6 | g.51748678G>A | CA3851470 | PKHD1 | c.8951-13C>T (n.8951-13C>T) c.8822-13C>T (n.8822-13C>T) c.8813-13C>T (n.8813-13C>T) c.8309-13C>T (n.8309-13C>T) c.8240-13C>T (n.8240-13C>T) c.3026-13C>T (n.3026-13C>T) c.8876-13C>T (n.8876-13C>T) c.8756-13C>T (n.8756-13C>T) c.8687-13C>T (n.8687-13C>T) c.7091-13C>T (n.7091-13C>T) n.9227-13C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.51748678G= | CA1628503959 | PKHD1 | c.8951-13C= (n.8951-13C=) c.8822-13C= (n.8822-13C=) c.8813-13C= (n.8813-13C=) c.8309-13C= (n.8309-13C=) c.8240-13C= (n.8240-13C=) c.3026-13C= (n.3026-13C=) c.8876-13C= (n.8876-13C=) c.8756-13C= (n.8756-13C=) c.8687-13C= (n.8687-13C=) c.7091-13C= (n.7091-13C=) n.9227-13C= | |
6 | g.51748678G>T | CA2679078648 | PKHD1 | c.8951-13C>A (n.8951-13C>A) c.8822-13C>A (n.8822-13C>A) c.8813-13C>A (n.8813-13C>A) c.8309-13C>A (n.8309-13C>A) c.8240-13C>A (n.8240-13C>A) c.3026-13C>A (n.3026-13C>A) c.8876-13C>A (n.8876-13C>A) c.8756-13C>A (n.8756-13C>A) c.8687-13C>A (n.8687-13C>A) c.7091-13C>A (n.7091-13C>A) n.9227-13C>A | gnomAD v4 |
6 | g.51748679C>T | CA2679078649 | PKHD1 | c.8951-14G>A (n.8951-14G>A) c.8822-14G>A (n.8822-14G>A) c.8813-14G>A (n.8813-14G>A) c.8309-14G>A (n.8309-14G>A) c.8240-14G>A (n.8240-14G>A) c.3026-14G>A (n.3026-14G>A) c.8876-14G>A (n.8876-14G>A) c.8756-14G>A (n.8756-14G>A) c.8687-14G>A (n.8687-14G>A) c.7091-14G>A (n.7091-14G>A) n.9227-14G>A | gnomAD v4 |
6 | g.51748680A= | CA1628503965 | PKHD1 | c.8951-15T= (n.8951-15T=) c.8822-15T= (n.8822-15T=) c.8813-15T= (n.8813-15T=) c.8309-15T= (n.8309-15T=) c.8240-15T= (n.8240-15T=) c.3026-15T= (n.3026-15T=) c.8876-15T= (n.8876-15T=) c.8756-15T= (n.8756-15T=) c.8687-15T= (n.8687-15T=) c.7091-15T= (n.7091-15T=) n.9227-15T= | |
6 | g.51748680A>C | CA2679078650 | PKHD1 | c.8951-15T>G (n.8951-15T>G) c.8822-15T>G (n.8822-15T>G) c.8813-15T>G (n.8813-15T>G) c.8309-15T>G (n.8309-15T>G) c.8240-15T>G (n.8240-15T>G) c.3026-15T>G (n.3026-15T>G) c.8876-15T>G (n.8876-15T>G) c.8756-15T>G (n.8756-15T>G) c.8687-15T>G (n.8687-15T>G) c.7091-15T>G (n.7091-15T>G) n.9227-15T>G | gnomAD v4 |
6 | g.51748680A>G | CA1628503966 | PKHD1 | c.8951-15T>C (n.8951-15T>C) c.8822-15T>C (n.8822-15T>C) c.8813-15T>C (n.8813-15T>C) c.8309-15T>C (n.8309-15T>C) c.8240-15T>C (n.8240-15T>C) c.3026-15T>C (n.3026-15T>C) c.8876-15T>C (n.8876-15T>C) c.8756-15T>C (n.8756-15T>C) c.8687-15T>C (n.8687-15T>C) c.7091-15T>C (n.7091-15T>C) n.9227-15T>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.51748681T>C | CA1628503971 | PKHD1 | c.8951-16A>G (n.8951-16A>G) c.8822-16A>G (n.8822-16A>G) c.8813-16A>G (n.8813-16A>G) c.8309-16A>G (n.8309-16A>G) c.8240-16A>G (n.8240-16A>G) c.3026-16A>G (n.3026-16A>G) c.8876-16A>G (n.8876-16A>G) c.8756-16A>G (n.8756-16A>G) c.8687-16A>G (n.8687-16A>G) c.7091-16A>G (n.7091-16A>G) n.9227-16A>G | dbSNP gnomAD v4 |
6 | g.51748681T>G | CA2679078651 | PKHD1 | c.8951-16A>C (n.8951-16A>C) c.8822-16A>C (n.8822-16A>C) c.8813-16A>C (n.8813-16A>C) c.8309-16A>C (n.8309-16A>C) c.8240-16A>C (n.8240-16A>C) c.3026-16A>C (n.3026-16A>C) c.8876-16A>C (n.8876-16A>C) c.8756-16A>C (n.8756-16A>C) c.8687-16A>C (n.8687-16A>C) c.7091-16A>C (n.7091-16A>C) n.9227-16A>C | gnomAD v4 |
6 | g.51748681T= | CA1628503969 | PKHD1 | c.8951-16A= (n.8951-16A=) c.8822-16A= (n.8822-16A=) c.8813-16A= (n.8813-16A=) c.8309-16A= (n.8309-16A=) c.8240-16A= (n.8240-16A=) c.3026-16A= (n.3026-16A=) c.8876-16A= (n.8876-16A=) c.8756-16A= (n.8756-16A=) c.8687-16A= (n.8687-16A=) c.7091-16A= (n.7091-16A=) n.9227-16A= | |
6 | g.51748682G>A | CA2679078652 | PKHD1 | c.8951-17C>T (n.8951-17C>T) c.8822-17C>T (n.8822-17C>T) c.8813-17C>T (n.8813-17C>T) c.8309-17C>T (n.8309-17C>T) c.8240-17C>T (n.8240-17C>T) c.3026-17C>T (n.3026-17C>T) c.8876-17C>T (n.8876-17C>T) c.8756-17C>T (n.8756-17C>T) c.8687-17C>T (n.8687-17C>T) c.7091-17C>T (n.7091-17C>T) n.9227-17C>T | ClinVar gnomAD v4 |
6 | g.51748682G>C | CA2679078653 | PKHD1 | c.8951-17C>G (n.8951-17C>G) c.8822-17C>G (n.8822-17C>G) c.8813-17C>G (n.8813-17C>G) c.8309-17C>G (n.8309-17C>G) c.8240-17C>G (n.8240-17C>G) c.3026-17C>G (n.3026-17C>G) c.8876-17C>G (n.8876-17C>G) c.8756-17C>G (n.8756-17C>G) c.8687-17C>G (n.8687-17C>G) c.7091-17C>G (n.7091-17C>G) n.9227-17C>G | gnomAD v4 |
6 | g.51748682G>T | CA2679078654 | PKHD1 | c.8951-17C>A (n.8951-17C>A) c.8822-17C>A (n.8822-17C>A) c.8813-17C>A (n.8813-17C>A) c.8309-17C>A (n.8309-17C>A) c.8240-17C>A (n.8240-17C>A) c.3026-17C>A (n.3026-17C>A) c.8876-17C>A (n.8876-17C>A) c.8756-17C>A (n.8756-17C>A) c.8687-17C>A (n.8687-17C>A) c.7091-17C>A (n.7091-17C>A) n.9227-17C>A | gnomAD v4 |
6 | g.51748683T>A | CA2679078655 | PKHD1 | c.8951-18A>T (n.8951-18A>T) c.8822-18A>T (n.8822-18A>T) c.8813-18A>T (n.8813-18A>T) c.8309-18A>T (n.8309-18A>T) c.8240-18A>T (n.8240-18A>T) c.3026-18A>T (n.3026-18A>T) c.8876-18A>T (n.8876-18A>T) c.8756-18A>T (n.8756-18A>T) c.8687-18A>T (n.8687-18A>T) c.7091-18A>T (n.7091-18A>T) n.9227-18A>T | gnomAD v4 |
6 | g.51748684C= | CA1628503976 | PKHD1 | c.8951-19G= (n.8951-19G=) c.8822-19G= (n.8822-19G=) c.8813-19G= (n.8813-19G=) c.8309-19G= (n.8309-19G=) c.8240-19G= (n.8240-19G=) c.3026-19G= (n.3026-19G=) c.8876-19G= (n.8876-19G=) c.8756-19G= (n.8756-19G=) c.8687-19G= (n.8687-19G=) c.7091-19G= (n.7091-19G=) n.9227-19G= | |
6 | g.51748684C>T | CA3851471 | PKHD1 | c.8951-19G>A (n.8951-19G>A) c.8822-19G>A (n.8822-19G>A) c.8813-19G>A (n.8813-19G>A) c.8309-19G>A (n.8309-19G>A) c.8240-19G>A (n.8240-19G>A) c.3026-19G>A (n.3026-19G>A) c.8876-19G>A (n.8876-19G>A) c.8756-19G>A (n.8756-19G>A) c.8687-19G>A (n.8687-19G>A) c.7091-19G>A (n.7091-19G>A) n.9227-19G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |