| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.51748566_51748568del | CA2695206434 | PKHD1 | c.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 | |
| 6 | g.51748565T>A | CA450613996 | PKHD1 | c.9051A>T (p.Ser3017=) c.8922A>T (p.Ser2974=) c.8913A>T (p.Ser2971=) c.8409A>T (p.Ser2803=) c.8340A>T (p.Ser2780=) c.3126A>T (p.Ser1042=) c.8976A>T (p.Ser2992=) c.8856A>T (p.Ser2952=) c.8787A>T (p.Ser2929=) c.7191A>T (p.Ser2397=) n.9327A>T | |
| 6 | g.51748565T>C | CA450613998 | PKHD1 | c.9051A>G (p.Ser3017=) c.8922A>G (p.Ser2974=) c.8913A>G (p.Ser2971=) c.8409A>G (p.Ser2803=) c.8340A>G (p.Ser2780=) c.3126A>G (p.Ser1042=) c.8976A>G (p.Ser2992=) c.8856A>G (p.Ser2952=) c.8787A>G (p.Ser2929=) c.7191A>G (p.Ser2397=) n.9327A>G | gnomAD v4 |
| 6 | g.51748565T>G | CA450614000 | PKHD1 | c.9051A>C (p.Ser3017=) c.8922A>C (p.Ser2974=) c.8913A>C (p.Ser2971=) c.8409A>C (p.Ser2803=) c.8340A>C (p.Ser2780=) c.3126A>C (p.Ser1042=) c.8976A>C (p.Ser2992=) c.8856A>C (p.Ser2952=) c.8787A>C (p.Ser2929=) c.7191A>C (p.Ser2397=) n.9327A>C | |
| 6 | g.51748566G>A | CA364424075 | PKHD1 | c.9050C>T (p.Ser3017Leu) c.8921C>T (p.Ser2974Leu) c.8912C>T (p.Ser2971Leu) c.8408C>T (p.Ser2803Leu) c.8339C>T (p.Ser2780Leu) c.3125C>T (p.Ser1042Leu) c.8975C>T (p.Ser2992Leu) c.8855C>T (p.Ser2952Leu) c.8786C>T (p.Ser2929Leu) c.7190C>T (p.Ser2397Leu) n.9326C>T | |
| 6 | g.51748566G>C | CA364424077 | PKHD1 | c.9050C>G (p.Ser3017Ter) c.8921C>G (p.Ser2974Ter) c.8912C>G (p.Ser2971Ter) c.8408C>G (p.Ser2803Ter) c.8339C>G (p.Ser2780Ter) c.3125C>G (p.Ser1042Ter) c.8975C>G (p.Ser2992Ter) c.8855C>G (p.Ser2952Ter) c.8786C>G (p.Ser2929Ter) c.7190C>G (p.Ser2397Ter) n.9326C>G | |
| 6 | g.51748566G>T | CA364424076 | PKHD1 | c.9050C>A (p.Ser3017Ter) c.8921C>A (p.Ser2974Ter) c.8912C>A (p.Ser2971Ter) c.8408C>A (p.Ser2803Ter) c.8339C>A (p.Ser2780Ter) c.3125C>A (p.Ser1042Ter) c.8975C>A (p.Ser2992Ter) c.8855C>A (p.Ser2952Ter) c.8786C>A (p.Ser2929Ter) c.7190C>A (p.Ser2397Ter) n.9326C>A | |
| 6 | g.51748567A>C | CA364424078 | PKHD1 | c.9049T>G (p.Ser3017Ala) c.8920T>G (p.Ser2974Ala) c.8911T>G (p.Ser2971Ala) c.8407T>G (p.Ser2803Ala) c.8338T>G (p.Ser2780Ala) c.3124T>G (p.Ser1042Ala) c.8974T>G (p.Ser2992Ala) c.8854T>G (p.Ser2952Ala) c.8785T>G (p.Ser2929Ala) c.7189T>G (p.Ser2397Ala) n.9325T>G | |
| 6 | g.51748567A>G | CA364424079 | PKHD1 | c.9049T>C (p.Ser3017Pro) c.8920T>C (p.Ser2974Pro) c.8911T>C (p.Ser2971Pro) c.8407T>C (p.Ser2803Pro) c.8338T>C (p.Ser2780Pro) c.3124T>C (p.Ser1042Pro) c.8974T>C (p.Ser2992Pro) c.8854T>C (p.Ser2952Pro) c.8785T>C (p.Ser2929Pro) c.7189T>C (p.Ser2397Pro) n.9325T>C | |
| 6 | g.51748567A>T | CA364424080 | PKHD1 | c.9049T>A (p.Ser3017Thr) c.8920T>A (p.Ser2974Thr) c.8911T>A (p.Ser2971Thr) c.8407T>A (p.Ser2803Thr) c.8338T>A (p.Ser2780Thr) c.3124T>A (p.Ser1042Thr) c.8974T>A (p.Ser2992Thr) c.8854T>A (p.Ser2952Thr) c.8785T>A (p.Ser2929Thr) c.7189T>A (p.Ser2397Thr) n.9325T>A | |
| 6 | g.51748568T>A | CA450614003 | PKHD1 | c.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 | |
| 6 | g.51748568T>C | CA364424081 | PKHD1 | c.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 |
| 6 | g.51748568T>G | CA450614005 | PKHD1 | c.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 | |
| 6 | g.51748569A>C | CA364424084 | PKHD1 | c.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 | |
| 6 | g.51748569A>G | CA364424082 | PKHD1 | c.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 | |
| 6 | g.51748569A>T | CA364424083 | PKHD1 | c.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 | |
| 6 | g.51748570T>A | CA364424085 | PKHD1 | c.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 | |
| 6 | g.51748570T>C | CA364424086 | PKHD1 | c.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 | |
| 6 | g.51748570T>G | CA364424087 | PKHD1 | c.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 | |
| 6 | g.51748571G>A | CA450614010 | PKHD1 | c.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 | |
| 6 | g.51748571G>C | CA364424088 | PKHD1 | c.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 | |
| 6 | g.51748571G>T | CA450614012 | PKHD1 | c.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 | |
| 6 | g.51748572A>C | CA364424089 | PKHD1 | c.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 |
| 6 | g.51748572A>G | CA364424090 | PKHD1 | c.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 | |
| 6 | g.51748572A>T | CA364424091 | PKHD1 | c.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 | |
| 6 | g.51748573T>A | CA364424094 | PKHD1 | c.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 | |
| 6 | g.51748573T>C | CA364424092 | PKHD1 | c.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 |
| 6 | g.51748573T>G | CA364424093 | PKHD1 | c.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 | |
| 6 | g.51748574C>A | CA364424095 | PKHD1 | c.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 |
| 6 | g.51748574C= | CA1628503762 | PKHD1 | c.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= | |
| 6 | g.51748574C>G | CA364424096 | PKHD1 | c.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 |
| 6 | g.51748574C>T | CA364424097 | PKHD1 | c.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 | |
| 6 | g.51748575C>A | CA364424098 | PKHD1 | c.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 | |
| 6 | g.51748575C>G | CA364424099 | PKHD1 | c.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 | |
| 6 | g.51748575C>T | CA364424100 | PKHD1 | c.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 | |
| 6 | g.51748576A>C | CA364424101 | PKHD1 | c.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 | |
| 6 | g.51748576A>G | CA364424103 | PKHD1 | c.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 | |
| 6 | g.51748576A>T | CA364424102 | PKHD1 | c.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 | |
| 6 | g.51748577G>A | CA138896748 | PKHD1 | c.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 |
| 6 | g.51748577G>C | CA450614023 | PKHD1 | c.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 |
| 6 | g.51748577G= | CA1628503773 | PKHD1 | c.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= | |
| 6 | g.51748577G>T | CA450614025 | PKHD1 | c.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 |
| 6 | g.51748577_51748578delinsTT | CA2739273071 | PKHD1 | c.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 |
| 6 | g.51748578G>A | CA364424104 | PKHD1 | c.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 | |
| 6 | g.51748578G>C | CA364424105 | PKHD1 | c.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 |
| 6 | g.51748578G= | CA1628503775 | PKHD1 | c.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= | |
| 6 | g.51748578G>T | CA364424106 | PKHD1 | c.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 |
| 6 | g.51748579A>C | CA364424107 | PKHD1 | c.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 | |
| 6 | g.51748579A>G | CA364424108 | PKHD1 | c.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 | |
| 6 | g.51748579A>T | CA364424109 | PKHD1 | c.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 |