WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 6 | g.51748580T>A | CA450614030 | PKHD1 | c.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 | |
| 6 | g.51748580T>C | CA450614031 | PKHD1 | c.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 |
| 6 | g.51748580T>G | CA450614032 | PKHD1 | c.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 | |
| 6 | g.51748581C>A | CA364424110 | PKHD1 | c.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 | |
| 6 | g.51748581C>G | CA364424111 | PKHD1 | c.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 | |
| 6 | g.51748581C>T | CA364424115 | PKHD1 | c.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 | |
| 6 | g.51748582C>A | CA364424117 | PKHD1 | c.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 | |
| 6 | g.51748582C>G | CA364424119 | PKHD1 | c.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 | |
| 6 | g.51748582C>T | CA364424121 | PKHD1 | c.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 | |
| 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 |