Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51748566_51748568delCA2695206434PKHD1c.9051_9053del (p.Ser3018del)
c.8922_8924del (p.Ser2975del)
c.8913_8915del (p.Ser2972del)
c.8409_8411del (p.Ser2804del)
c.8340_8342del (p.Ser2781del)
c.3126_3128del (p.Ser1043del)
c.8976_8978del (p.Ser2993del)
c.8856_8858del (p.Ser2953del)
c.8787_8789del (p.Ser2930del)
c.7191_7193del (p.Ser2398del)
n.9327_9329del
6g.51748568T>ACA450614003PKHD1c.9048A>T (p.Ile3016=)
c.8919A>T (p.Ile2973=)
c.8910A>T (p.Ile2970=)
c.8406A>T (p.Ile2802=)
c.8337A>T (p.Ile2779=)
c.3123A>T (p.Ile1041=)
c.8973A>T (p.Ile2991=)
c.8853A>T (p.Ile2951=)
c.8784A>T (p.Ile2928=)
c.7188A>T (p.Ile2396=)
n.9324A>T
6g.51748568T>CCA364424081PKHD1c.9048A>G (p.Ile3016Met)
c.8919A>G (p.Ile2973Met)
c.8910A>G (p.Ile2970Met)
c.8406A>G (p.Ile2802Met)
c.8337A>G (p.Ile2779Met)
c.3123A>G (p.Ile1041Met)
c.8973A>G (p.Ile2991Met)
c.8853A>G (p.Ile2951Met)
c.8784A>G (p.Ile2928Met)
c.7188A>G (p.Ile2396Met)
n.9324A>G
 gnomAD v4
6g.51748568T>GCA450614005PKHD1c.9048A>C (p.Ile3016=)
c.8919A>C (p.Ile2973=)
c.8910A>C (p.Ile2970=)
c.8406A>C (p.Ile2802=)
c.8337A>C (p.Ile2779=)
c.3123A>C (p.Ile1041=)
c.8973A>C (p.Ile2991=)
c.8853A>C (p.Ile2951=)
c.8784A>C (p.Ile2928=)
c.7188A>C (p.Ile2396=)
n.9324A>C
6g.51748569A>CCA364424084PKHD1c.9047T>G (p.Ile3016Arg)
c.8918T>G (p.Ile2973Arg)
c.8909T>G (p.Ile2970Arg)
c.8405T>G (p.Ile2802Arg)
c.8336T>G (p.Ile2779Arg)
c.3122T>G (p.Ile1041Arg)
c.8972T>G (p.Ile2991Arg)
c.8852T>G (p.Ile2951Arg)
c.8783T>G (p.Ile2928Arg)
c.7187T>G (p.Ile2396Arg)
n.9323T>G
6g.51748569A>GCA364424082PKHD1c.9047T>C (p.Ile3016Thr)
c.8918T>C (p.Ile2973Thr)
c.8909T>C (p.Ile2970Thr)
c.8405T>C (p.Ile2802Thr)
c.8336T>C (p.Ile2779Thr)
c.3122T>C (p.Ile1041Thr)
c.8972T>C (p.Ile2991Thr)
c.8852T>C (p.Ile2951Thr)
c.8783T>C (p.Ile2928Thr)
c.7187T>C (p.Ile2396Thr)
n.9323T>C
6g.51748569A>TCA364424083PKHD1c.9047T>A (p.Ile3016Lys)
c.8918T>A (p.Ile2973Lys)
c.8909T>A (p.Ile2970Lys)
c.8405T>A (p.Ile2802Lys)
c.8336T>A (p.Ile2779Lys)
c.3122T>A (p.Ile1041Lys)
c.8972T>A (p.Ile2991Lys)
c.8852T>A (p.Ile2951Lys)
c.8783T>A (p.Ile2928Lys)
c.7187T>A (p.Ile2396Lys)
n.9323T>A
6g.51748570T>ACA364424085PKHD1c.9046A>T (p.Ile3016Leu)
c.8917A>T (p.Ile2973Leu)
c.8908A>T (p.Ile2970Leu)
c.8404A>T (p.Ile2802Leu)
c.8335A>T (p.Ile2779Leu)
c.3121A>T (p.Ile1041Leu)
c.8971A>T (p.Ile2991Leu)
c.8851A>T (p.Ile2951Leu)
c.8782A>T (p.Ile2928Leu)
c.7186A>T (p.Ile2396Leu)
n.9322A>T
6g.51748570T>CCA364424086PKHD1c.9046A>G (p.Ile3016Val)
c.8917A>G (p.Ile2973Val)
c.8908A>G (p.Ile2970Val)
c.8404A>G (p.Ile2802Val)
c.8335A>G (p.Ile2779Val)
c.3121A>G (p.Ile1041Val)
c.8971A>G (p.Ile2991Val)
c.8851A>G (p.Ile2951Val)
c.8782A>G (p.Ile2928Val)
c.7186A>G (p.Ile2396Val)
n.9322A>G
6g.51748570T>GCA364424087PKHD1c.9046A>C (p.Ile3016Leu)
c.8917A>C (p.Ile2973Leu)
c.8908A>C (p.Ile2970Leu)
c.8404A>C (p.Ile2802Leu)
c.8335A>C (p.Ile2779Leu)
c.3121A>C (p.Ile1041Leu)
c.8971A>C (p.Ile2991Leu)
c.8851A>C (p.Ile2951Leu)
c.8782A>C (p.Ile2928Leu)
c.7186A>C (p.Ile2396Leu)
n.9322A>C
6g.51748571G>ACA450614010PKHD1c.9045C>T (p.Ile3015=)
c.8916C>T (p.Ile2972=)
c.8907C>T (p.Ile2969=)
c.8403C>T (p.Ile2801=)
c.8334C>T (p.Ile2778=)
c.3120C>T (p.Ile1040=)
c.8970C>T (p.Ile2990=)
c.8850C>T (p.Ile2950=)
c.8781C>T (p.Ile2927=)
c.7185C>T (p.Ile2395=)
n.9321C>T
6g.51748571G>CCA364424088PKHD1c.9045C>G (p.Ile3015Met)
c.8916C>G (p.Ile2972Met)
c.8907C>G (p.Ile2969Met)
c.8403C>G (p.Ile2801Met)
c.8334C>G (p.Ile2778Met)
c.3120C>G (p.Ile1040Met)
c.8970C>G (p.Ile2990Met)
c.8850C>G (p.Ile2950Met)
c.8781C>G (p.Ile2927Met)
c.7185C>G (p.Ile2395Met)
n.9321C>G
6g.51748571G>TCA450614012PKHD1c.9045C>A (p.Ile3015=)
c.8916C>A (p.Ile2972=)
c.8907C>A (p.Ile2969=)
c.8403C>A (p.Ile2801=)
c.8334C>A (p.Ile2778=)
c.3120C>A (p.Ile1040=)
c.8970C>A (p.Ile2990=)
c.8850C>A (p.Ile2950=)
c.8781C>A (p.Ile2927=)
c.7185C>A (p.Ile2395=)
n.9321C>A
6g.51748572A>CCA364424089PKHD1c.9044T>G (p.Ile3015Ser)
c.8915T>G (p.Ile2972Ser)
c.8906T>G (p.Ile2969Ser)
c.8402T>G (p.Ile2801Ser)
c.8333T>G (p.Ile2778Ser)
c.3119T>G (p.Ile1040Ser)
c.8969T>G (p.Ile2990Ser)
c.8849T>G (p.Ile2950Ser)
c.8780T>G (p.Ile2927Ser)
c.7184T>G (p.Ile2395Ser)
n.9320T>G
 ClinVar dbSNP
6g.51748572A>GCA364424090PKHD1c.9044T>C (p.Ile3015Thr)
c.8915T>C (p.Ile2972Thr)
c.8906T>C (p.Ile2969Thr)
c.8402T>C (p.Ile2801Thr)
c.8333T>C (p.Ile2778Thr)
c.3119T>C (p.Ile1040Thr)
c.8969T>C (p.Ile2990Thr)
c.8849T>C (p.Ile2950Thr)
c.8780T>C (p.Ile2927Thr)
c.7184T>C (p.Ile2395Thr)
n.9320T>C
6g.51748572A>TCA364424091PKHD1c.9044T>A (p.Ile3015Asn)
c.8915T>A (p.Ile2972Asn)
c.8906T>A (p.Ile2969Asn)
c.8402T>A (p.Ile2801Asn)
c.8333T>A (p.Ile2778Asn)
c.3119T>A (p.Ile1040Asn)
c.8969T>A (p.Ile2990Asn)
c.8849T>A (p.Ile2950Asn)
c.8780T>A (p.Ile2927Asn)
c.7184T>A (p.Ile2395Asn)
n.9320T>A
6g.51748573T>ACA364424094PKHD1c.9043A>T (p.Ile3015Phe)
c.8914A>T (p.Ile2972Phe)
c.8905A>T (p.Ile2969Phe)
c.8401A>T (p.Ile2801Phe)
c.8332A>T (p.Ile2778Phe)
c.3118A>T (p.Ile1040Phe)
c.8968A>T (p.Ile2990Phe)
c.8848A>T (p.Ile2950Phe)
c.8779A>T (p.Ile2927Phe)
c.7183A>T (p.Ile2395Phe)
n.9319A>T
6g.51748573T>CCA364424092PKHD1c.9043A>G (p.Ile3015Val)
c.8914A>G (p.Ile2972Val)
c.8905A>G (p.Ile2969Val)
c.8401A>G (p.Ile2801Val)
c.8332A>G (p.Ile2778Val)
c.3118A>G (p.Ile1040Val)
c.8968A>G (p.Ile2990Val)
c.8848A>G (p.Ile2950Val)
c.8779A>G (p.Ile2927Val)
c.7183A>G (p.Ile2395Val)
n.9319A>G
 gnomAD v4
6g.51748573T>GCA364424093PKHD1c.9043A>C (p.Ile3015Leu)
c.8914A>C (p.Ile2972Leu)
c.8905A>C (p.Ile2969Leu)
c.8401A>C (p.Ile2801Leu)
c.8332A>C (p.Ile2778Leu)
c.3118A>C (p.Ile1040Leu)
c.8968A>C (p.Ile2990Leu)
c.8848A>C (p.Ile2950Leu)
c.8779A>C (p.Ile2927Leu)
c.7183A>C (p.Ile2395Leu)
n.9319A>C
6g.51748574C>ACA364424095PKHD1c.9042G>T (p.Trp3014Cys)
c.8913G>T (p.Trp2971Cys)
c.8904G>T (p.Trp2968Cys)
c.8400G>T (p.Trp2800Cys)
c.8331G>T (p.Trp2777Cys)
c.3117G>T (p.Trp1039Cys)
c.8967G>T (p.Trp2989Cys)
c.8847G>T (p.Trp2949Cys)
c.8778G>T (p.Trp2926Cys)
c.7182G>T (p.Trp2394Cys)
n.9318G>T
 dbSNP gnomAD v2
6g.51748574C=CA1628503762PKHD1c.9042G= (p.Trp3014=)
c.8913G= (p.Trp2971=)
c.8904G= (p.Trp2968=)
c.8400G= (p.Trp2800=)
c.8331G= (p.Trp2777=)
c.3117G= (p.Trp1039=)
c.8967G= (p.Trp2989=)
c.8847G= (p.Trp2949=)
c.8778G= (p.Trp2926=)
c.7182G= (p.Trp2394=)
n.9318G=
6g.51748574C>GCA364424096PKHD1c.9042G>C (p.Trp3014Cys)
c.8913G>C (p.Trp2971Cys)
c.8904G>C (p.Trp2968Cys)
c.8400G>C (p.Trp2800Cys)
c.8331G>C (p.Trp2777Cys)
c.3117G>C (p.Trp1039Cys)
c.8967G>C (p.Trp2989Cys)
c.8847G>C (p.Trp2949Cys)
c.8778G>C (p.Trp2926Cys)
c.7182G>C (p.Trp2394Cys)
n.9318G>C
 dbSNP gnomAD v4
6g.51748574C>TCA364424097PKHD1c.9042G>A (p.Trp3014Ter)
c.8913G>A (p.Trp2971Ter)
c.8904G>A (p.Trp2968Ter)
c.8400G>A (p.Trp2800Ter)
c.8331G>A (p.Trp2777Ter)
c.3117G>A (p.Trp1039Ter)
c.8967G>A (p.Trp2989Ter)
c.8847G>A (p.Trp2949Ter)
c.8778G>A (p.Trp2926Ter)
c.7182G>A (p.Trp2394Ter)
n.9318G>A
6g.51748575C>ACA364424098PKHD1c.9041G>T (p.Trp3014Leu)
c.8912G>T (p.Trp2971Leu)
c.8903G>T (p.Trp2968Leu)
c.8399G>T (p.Trp2800Leu)
c.8330G>T (p.Trp2777Leu)
c.3116G>T (p.Trp1039Leu)
c.8966G>T (p.Trp2989Leu)
c.8846G>T (p.Trp2949Leu)
c.8777G>T (p.Trp2926Leu)
c.7181G>T (p.Trp2394Leu)
n.9317G>T
6g.51748575C>GCA364424099PKHD1c.9041G>C (p.Trp3014Ser)
c.8912G>C (p.Trp2971Ser)
c.8903G>C (p.Trp2968Ser)
c.8399G>C (p.Trp2800Ser)
c.8330G>C (p.Trp2777Ser)
c.3116G>C (p.Trp1039Ser)
c.8966G>C (p.Trp2989Ser)
c.8846G>C (p.Trp2949Ser)
c.8777G>C (p.Trp2926Ser)
c.7181G>C (p.Trp2394Ser)
n.9317G>C
6g.51748575C>TCA364424100PKHD1c.9041G>A (p.Trp3014Ter)
c.8912G>A (p.Trp2971Ter)
c.8903G>A (p.Trp2968Ter)
c.8399G>A (p.Trp2800Ter)
c.8330G>A (p.Trp2777Ter)
c.3116G>A (p.Trp1039Ter)
c.8966G>A (p.Trp2989Ter)
c.8846G>A (p.Trp2949Ter)
c.8777G>A (p.Trp2926Ter)
c.7181G>A (p.Trp2394Ter)
n.9317G>A
6g.51748576A>CCA364424101PKHD1c.9040T>G (p.Trp3014Gly)
c.8911T>G (p.Trp2971Gly)
c.8902T>G (p.Trp2968Gly)
c.8398T>G (p.Trp2800Gly)
c.8329T>G (p.Trp2777Gly)
c.3115T>G (p.Trp1039Gly)
c.8965T>G (p.Trp2989Gly)
c.8845T>G (p.Trp2949Gly)
c.8776T>G (p.Trp2926Gly)
c.7180T>G (p.Trp2394Gly)
n.9316T>G
6g.51748576A>GCA364424103PKHD1c.9040T>C (p.Trp3014Arg)
c.8911T>C (p.Trp2971Arg)
c.8902T>C (p.Trp2968Arg)
c.8398T>C (p.Trp2800Arg)
c.8329T>C (p.Trp2777Arg)
c.3115T>C (p.Trp1039Arg)
c.8965T>C (p.Trp2989Arg)
c.8845T>C (p.Trp2949Arg)
c.8776T>C (p.Trp2926Arg)
c.7180T>C (p.Trp2394Arg)
n.9316T>C
6g.51748576A>TCA364424102PKHD1c.9040T>A (p.Trp3014Arg)
c.8911T>A (p.Trp2971Arg)
c.8902T>A (p.Trp2968Arg)
c.8398T>A (p.Trp2800Arg)
c.8329T>A (p.Trp2777Arg)
c.3115T>A (p.Trp1039Arg)
c.8965T>A (p.Trp2989Arg)
c.8845T>A (p.Trp2949Arg)
c.8776T>A (p.Trp2926Arg)
c.7180T>A (p.Trp2394Arg)
n.9316T>A
6g.51748577G>ACA138896748PKHD1c.9039C>T (p.Ser3013=)
c.8910C>T (p.Ser2970=)
c.8901C>T (p.Ser2967=)
c.8397C>T (p.Ser2799=)
c.8328C>T (p.Ser2776=)
c.3114C>T (p.Ser1038=)
c.8964C>T (p.Ser2988=)
c.8844C>T (p.Ser2948=)
c.8775C>T (p.Ser2925=)
c.7179C>T (p.Ser2393=)
n.9315C>T
 dbSNP
6g.51748577G>CCA450614023PKHD1c.9039C>G (p.Ser3013=)
c.8910C>G (p.Ser2970=)
c.8901C>G (p.Ser2967=)
c.8397C>G (p.Ser2799=)
c.8328C>G (p.Ser2776=)
c.3114C>G (p.Ser1038=)
c.8964C>G (p.Ser2988=)
c.8844C>G (p.Ser2948=)
c.8775C>G (p.Ser2925=)
c.7179C>G (p.Ser2393=)
n.9315C>G
 gnomAD v4
6g.51748577G=CA1628503773PKHD1c.9039C= (p.Ser3013=)
c.8910C= (p.Ser2970=)
c.8901C= (p.Ser2967=)
c.8397C= (p.Ser2799=)
c.8328C= (p.Ser2776=)
c.3114C= (p.Ser1038=)
c.8964C= (p.Ser2988=)
c.8844C= (p.Ser2948=)
c.8775C= (p.Ser2925=)
c.7179C= (p.Ser2393=)
n.9315C=
6g.51748577G>TCA450614025PKHD1c.9039C>A (p.Ser3013=)
c.8910C>A (p.Ser2970=)
c.8901C>A (p.Ser2967=)
c.8397C>A (p.Ser2799=)
c.8328C>A (p.Ser2776=)
c.3114C>A (p.Ser1038=)
c.8964C>A (p.Ser2988=)
c.8844C>A (p.Ser2948=)
c.8775C>A (p.Ser2925=)
c.7179C>A (p.Ser2393=)
n.9315C>A
 gnomAD v4 COSMIC COSMIC
6g.51748577_51748578delinsTTCA2739273071PKHD1c.9038_9039delinsAA (p.Ser3013Ter)
c.8909_8910delinsAA (p.Ser2970Ter)
c.8900_8901delinsAA (p.Ser2967Ter)
c.8396_8397delinsAA (p.Ser2799Ter)
c.8327_8328delinsAA (p.Ser2776Ter)
c.3113_3114delinsAA (p.Ser1038Ter)
c.8963_8964delinsAA (p.Ser2988Ter)
c.8843_8844delinsAA (p.Ser2948Ter)
c.8774_8775delinsAA (p.Ser2925Ter)
c.7178_7179delinsAA (p.Ser2393Ter)
n.9314_9315delinsAA
 ClinVar
6g.51748578G>ACA364424104PKHD1c.9038C>T (p.Ser3013Phe)
c.8909C>T (p.Ser2970Phe)
c.8900C>T (p.Ser2967Phe)
c.8396C>T (p.Ser2799Phe)
c.8327C>T (p.Ser2776Phe)
c.3113C>T (p.Ser1038Phe)
c.8963C>T (p.Ser2988Phe)
c.8843C>T (p.Ser2948Phe)
c.8774C>T (p.Ser2925Phe)
c.7178C>T (p.Ser2393Phe)
n.9314C>T
6g.51748578G>CCA364424105PKHD1c.9038C>G (p.Ser3013Cys)
c.8909C>G (p.Ser2970Cys)
c.8900C>G (p.Ser2967Cys)
c.8396C>G (p.Ser2799Cys)
c.8327C>G (p.Ser2776Cys)
c.3113C>G (p.Ser1038Cys)
c.8963C>G (p.Ser2988Cys)
c.8843C>G (p.Ser2948Cys)
c.8774C>G (p.Ser2925Cys)
c.7178C>G (p.Ser2393Cys)
n.9314C>G
 gnomAD v4
6g.51748578G=CA1628503775PKHD1c.9038C= (p.Ser3013=)
c.8909C= (p.Ser2970=)
c.8900C= (p.Ser2967=)
c.8396C= (p.Ser2799=)
c.8327C= (p.Ser2776=)
c.3113C= (p.Ser1038=)
c.8963C= (p.Ser2988=)
c.8843C= (p.Ser2948=)
c.8774C= (p.Ser2925=)
c.7178C= (p.Ser2393=)
n.9314C=
6g.51748578G>TCA364424106PKHD1c.9038C>A (p.Ser3013Tyr)
c.8909C>A (p.Ser2970Tyr)
c.8900C>A (p.Ser2967Tyr)
c.8396C>A (p.Ser2799Tyr)
c.8327C>A (p.Ser2776Tyr)
c.3113C>A (p.Ser1038Tyr)
c.8963C>A (p.Ser2988Tyr)
c.8843C>A (p.Ser2948Tyr)
c.8774C>A (p.Ser2925Tyr)
c.7178C>A (p.Ser2393Tyr)
n.9314C>A
 dbSNP gnomAD v2 gnomAD v4
6g.51748579A>CCA364424107PKHD1c.9037T>G (p.Ser3013Ala)
c.8908T>G (p.Ser2970Ala)
c.8899T>G (p.Ser2967Ala)
c.8395T>G (p.Ser2799Ala)
c.8326T>G (p.Ser2776Ala)
c.3112T>G (p.Ser1038Ala)
c.8962T>G (p.Ser2988Ala)
c.8842T>G (p.Ser2948Ala)
c.8773T>G (p.Ser2925Ala)
c.7177T>G (p.Ser2393Ala)
n.9313T>G
6g.51748579A>GCA364424108PKHD1c.9037T>C (p.Ser3013Pro)
c.8908T>C (p.Ser2970Pro)
c.8899T>C (p.Ser2967Pro)
c.8395T>C (p.Ser2799Pro)
c.8326T>C (p.Ser2776Pro)
c.3112T>C (p.Ser1038Pro)
c.8962T>C (p.Ser2988Pro)
c.8842T>C (p.Ser2948Pro)
c.8773T>C (p.Ser2925Pro)
c.7177T>C (p.Ser2393Pro)
n.9313T>C
6g.51748579A>TCA364424109PKHD1c.9037T>A (p.Ser3013Thr)
c.8908T>A (p.Ser2970Thr)
c.8899T>A (p.Ser2967Thr)
c.8395T>A (p.Ser2799Thr)
c.8326T>A (p.Ser2776Thr)
c.3112T>A (p.Ser1038Thr)
c.8962T>A (p.Ser2988Thr)
c.8842T>A (p.Ser2948Thr)
c.8773T>A (p.Ser2925Thr)
c.7177T>A (p.Ser2393Thr)
n.9313T>A
6g.51748580T>ACA450614030PKHD1c.9036A>T (p.Gly3012=)
c.8907A>T (p.Gly2969=)
c.8898A>T (p.Gly2966=)
c.8394A>T (p.Gly2798=)
c.8325A>T (p.Gly2775=)
c.3111A>T (p.Gly1037=)
c.8961A>T (p.Gly2987=)
c.8841A>T (p.Gly2947=)
c.8772A>T (p.Gly2924=)
c.7176A>T (p.Gly2392=)
n.9312A>T
6g.51748580T>CCA450614031PKHD1c.9036A>G (p.Gly3012=)
c.8907A>G (p.Gly2969=)
c.8898A>G (p.Gly2966=)
c.8394A>G (p.Gly2798=)
c.8325A>G (p.Gly2775=)
c.3111A>G (p.Gly1037=)
c.8961A>G (p.Gly2987=)
c.8841A>G (p.Gly2947=)
c.8772A>G (p.Gly2924=)
c.7176A>G (p.Gly2392=)
n.9312A>G
 gnomAD v4
6g.51748580T>GCA450614032PKHD1c.9036A>C (p.Gly3012=)
c.8907A>C (p.Gly2969=)
c.8898A>C (p.Gly2966=)
c.8394A>C (p.Gly2798=)
c.8325A>C (p.Gly2775=)
c.3111A>C (p.Gly1037=)
c.8961A>C (p.Gly2987=)
c.8841A>C (p.Gly2947=)
c.8772A>C (p.Gly2924=)
c.7176A>C (p.Gly2392=)
n.9312A>C
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

Number of alleles fetched