Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.51748583T>A | CA450614036 | PKHD1 | c.9033A>T (p.Ala3011=) c.8904A>T (p.Ala2968=) c.8895A>T (p.Ala2965=) c.8391A>T (p.Ala2797=) c.8322A>T (p.Ala2774=) c.3108A>T (p.Ala1036=) c.8958A>T (p.Ala2986=) c.8838A>T (p.Ala2946=) c.8769A>T (p.Ala2923=) c.7173A>T (p.Ala2391=) n.9309A>T | |
6 | g.51748583T>C | CA450614038 | PKHD1 | c.9033A>G (p.Ala3011=) c.8904A>G (p.Ala2968=) c.8895A>G (p.Ala2965=) c.8391A>G (p.Ala2797=) c.8322A>G (p.Ala2774=) c.3108A>G (p.Ala1036=) c.8958A>G (p.Ala2986=) c.8838A>G (p.Ala2946=) c.8769A>G (p.Ala2923=) c.7173A>G (p.Ala2391=) n.9309A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.51748583T>G | CA450614041 | PKHD1 | c.9033A>C (p.Ala3011=) c.8904A>C (p.Ala2968=) c.8895A>C (p.Ala2965=) c.8391A>C (p.Ala2797=) c.8322A>C (p.Ala2774=) c.3108A>C (p.Ala1036=) c.8958A>C (p.Ala2986=) c.8838A>C (p.Ala2946=) c.8769A>C (p.Ala2923=) c.7173A>C (p.Ala2391=) n.9309A>C | |
6 | g.51748583T= | CA1628503778 | PKHD1 | c.9033A= (p.Ala3011=) c.8904A= (p.Ala2968=) c.8895A= (p.Ala2965=) c.8391A= (p.Ala2797=) c.8322A= (p.Ala2774=) c.3108A= (p.Ala1036=) c.8958A= (p.Ala2986=) c.8838A= (p.Ala2946=) c.8769A= (p.Ala2923=) c.7173A= (p.Ala2391=) n.9309A= | |
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 |