Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51748581C>ACA364424110PKHD1c.9035G>T (p.Gly3012Val)
c.8906G>T (p.Gly2969Val)
c.8897G>T (p.Gly2966Val)
c.8393G>T (p.Gly2798Val)
c.8324G>T (p.Gly2775Val)
c.3110G>T (p.Gly1037Val)
c.8960G>T (p.Gly2987Val)
c.8840G>T (p.Gly2947Val)
c.8771G>T (p.Gly2924Val)
c.7175G>T (p.Gly2392Val)
n.9311G>T
6g.51748581C>GCA364424111PKHD1c.9035G>C (p.Gly3012Ala)
c.8906G>C (p.Gly2969Ala)
c.8897G>C (p.Gly2966Ala)
c.8393G>C (p.Gly2798Ala)
c.8324G>C (p.Gly2775Ala)
c.3110G>C (p.Gly1037Ala)
c.8960G>C (p.Gly2987Ala)
c.8840G>C (p.Gly2947Ala)
c.8771G>C (p.Gly2924Ala)
c.7175G>C (p.Gly2392Ala)
n.9311G>C
6g.51748581C>TCA364424115PKHD1c.9035G>A (p.Gly3012Glu)
c.8906G>A (p.Gly2969Glu)
c.8897G>A (p.Gly2966Glu)
c.8393G>A (p.Gly2798Glu)
c.8324G>A (p.Gly2775Glu)
c.3110G>A (p.Gly1037Glu)
c.8960G>A (p.Gly2987Glu)
c.8840G>A (p.Gly2947Glu)
c.8771G>A (p.Gly2924Glu)
c.7175G>A (p.Gly2392Glu)
n.9311G>A
6g.51748582C>ACA364424117PKHD1c.9034G>T (p.Gly3012Ter)
c.8905G>T (p.Gly2969Ter)
c.8896G>T (p.Gly2966Ter)
c.8392G>T (p.Gly2798Ter)
c.8323G>T (p.Gly2775Ter)
c.3109G>T (p.Gly1037Ter)
c.8959G>T (p.Gly2987Ter)
c.8839G>T (p.Gly2947Ter)
c.8770G>T (p.Gly2924Ter)
c.7174G>T (p.Gly2392Ter)
n.9310G>T
6g.51748582C>GCA364424119PKHD1c.9034G>C (p.Gly3012Arg)
c.8905G>C (p.Gly2969Arg)
c.8896G>C (p.Gly2966Arg)
c.8392G>C (p.Gly2798Arg)
c.8323G>C (p.Gly2775Arg)
c.3109G>C (p.Gly1037Arg)
c.8959G>C (p.Gly2987Arg)
c.8839G>C (p.Gly2947Arg)
c.8770G>C (p.Gly2924Arg)
c.7174G>C (p.Gly2392Arg)
n.9310G>C
6g.51748582C>TCA364424121PKHD1c.9034G>A (p.Gly3012Arg)
c.8905G>A (p.Gly2969Arg)
c.8896G>A (p.Gly2966Arg)
c.8392G>A (p.Gly2798Arg)
c.8323G>A (p.Gly2775Arg)
c.3109G>A (p.Gly1037Arg)
c.8959G>A (p.Gly2987Arg)
c.8839G>A (p.Gly2947Arg)
c.8770G>A (p.Gly2924Arg)
c.7174G>A (p.Gly2392Arg)
n.9310G>A
6g.51748583T>ACA450614036PKHD1c.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
6g.51748583T>CCA450614038PKHD1c.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
6g.51748583T>GCA450614041PKHD1c.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
6g.51748583T=CA1628503778PKHD1c.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=
6g.51748584G>ACA364424123PKHD1c.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
6g.51748584G>CCA364424127PKHD1c.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
6g.51748584G>TCA364424125PKHD1c.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
6g.51748585C>ACA364424129PKHD1c.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
6g.51748585C>GCA364424130PKHD1c.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
6g.51748585C>TCA364424132PKHD1c.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
6g.51748585_51748586insAGGTCA2679078642PKHD1c.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
6g.51748586T>ACA450614045PKHD1c.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
6g.51748586T>CCA450614051PKHD1c.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
6g.51748586T>GCA450614053PKHD1c.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
6g.51748586T=CA1628503791PKHD1c.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=
6g.51748587G>ACA364424133PKHD1c.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
6g.51748587G>CCA364424134PKHD1c.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
6g.51748587G>TCA364424136PKHD1c.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
6g.51748587_51748588insGACAGCAAGCACTAGACCACAATGTCA2679078643PKHD1c.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
6g.51748588A>CCA364424139PKHD1c.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
6g.51748588A>GCA364424140PKHD1c.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
6g.51748588A>TCA364424141PKHD1c.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
6g.51748589C>ACA450614060PKHD1c.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
6g.51748589C=CA1628503797PKHD1c.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=
6g.51748589C>GCA450614058PKHD1c.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
6g.51748589C>TCA450614056PKHD1c.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
6g.51748590A>CCA364424144PKHD1c.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
6g.51748590A>GCA364424145PKHD1c.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
6g.51748590A>TCA364424147PKHD1c.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
6g.51748591C>ACA364424149PKHD1c.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
6g.51748591C=CA1628503805PKHD1c.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=
6g.51748591C>GCA364424150PKHD1c.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
6g.51748591C>TCA3851457PKHD1c.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
6g.51748592A>CCA364424152PKHD1c.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
6g.51748592A>GCA450614070PKHD1c.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
6g.51748592A>TCA364424154PKHD1c.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
6g.51748593T>ACA364424156PKHD1c.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
6g.51748593T>CCA364424158PKHD1c.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
6g.51748593T>GCA364424160PKHD1c.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
6g.51748594T>ACA364424166PKHD1c.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
6g.51748594T>CCA364424162PKHD1c.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
6g.51748594T>GCA364424164PKHD1c.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
6g.51748595A>CCA364424168PKHD1c.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
6g.51748595A>GCA450614082PKHD1c.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

Number of alleles fetched