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.51748559A>C | CA450613984 | PKHD1 | c.9057T>G (p.Thr3019=) c.8928T>G (p.Thr2976=) c.8919T>G (p.Thr2973=) c.8415T>G (p.Thr2805=) c.8346T>G (p.Thr2782=) c.3132T>G (p.Thr1044=) c.8982T>G (p.Thr2994=) c.8862T>G (p.Thr2954=) c.8793T>G (p.Thr2931=) c.7197T>G (p.Thr2399=) n.9333T>G | |
| 6 | g.51748559A>G | CA450613986 | PKHD1 | c.9057T>C (p.Thr3019=) c.8928T>C (p.Thr2976=) c.8919T>C (p.Thr2973=) c.8415T>C (p.Thr2805=) c.8346T>C (p.Thr2782=) c.3132T>C (p.Thr1044=) c.8982T>C (p.Thr2994=) c.8862T>C (p.Thr2954=) c.8793T>C (p.Thr2931=) c.7197T>C (p.Thr2399=) n.9333T>C | |
| 6 | g.51748559A>T | CA450613988 | PKHD1 | c.9057T>A (p.Thr3019=) c.8928T>A (p.Thr2976=) c.8919T>A (p.Thr2973=) c.8415T>A (p.Thr2805=) c.8346T>A (p.Thr2782=) c.3132T>A (p.Thr1044=) c.8982T>A (p.Thr2994=) c.8862T>A (p.Thr2954=) c.8793T>A (p.Thr2931=) c.7197T>A (p.Thr2399=) n.9333T>A | |
| 6 | g.51748560G>A | CA364424064 | PKHD1 | c.9056C>T (p.Thr3019Ile) c.8927C>T (p.Thr2976Ile) c.8918C>T (p.Thr2973Ile) c.8414C>T (p.Thr2805Ile) c.8345C>T (p.Thr2782Ile) c.3131C>T (p.Thr1044Ile) c.8981C>T (p.Thr2994Ile) c.8861C>T (p.Thr2954Ile) c.8792C>T (p.Thr2931Ile) c.7196C>T (p.Thr2399Ile) n.9332C>T | |
| 6 | g.51748560G>C | CA364424065 | PKHD1 | c.9056C>G (p.Thr3019Ser) c.8927C>G (p.Thr2976Ser) c.8918C>G (p.Thr2973Ser) c.8414C>G (p.Thr2805Ser) c.8345C>G (p.Thr2782Ser) c.3131C>G (p.Thr1044Ser) c.8981C>G (p.Thr2994Ser) c.8861C>G (p.Thr2954Ser) c.8792C>G (p.Thr2931Ser) c.7196C>G (p.Thr2399Ser) n.9332C>G | gnomAD v4 |
| 6 | g.51748560G>T | CA364424066 | PKHD1 | c.9056C>A (p.Thr3019Asn) c.8927C>A (p.Thr2976Asn) c.8918C>A (p.Thr2973Asn) c.8414C>A (p.Thr2805Asn) c.8345C>A (p.Thr2782Asn) c.3131C>A (p.Thr1044Asn) c.8981C>A (p.Thr2994Asn) c.8861C>A (p.Thr2954Asn) c.8792C>A (p.Thr2931Asn) c.7196C>A (p.Thr2399Asn) n.9332C>A | |
| 6 | g.51748561T>A | CA364424068 | PKHD1 | c.9055A>T (p.Thr3019Ser) c.8926A>T (p.Thr2976Ser) c.8917A>T (p.Thr2973Ser) c.8413A>T (p.Thr2805Ser) c.8344A>T (p.Thr2782Ser) c.3130A>T (p.Thr1044Ser) c.8980A>T (p.Thr2994Ser) c.8860A>T (p.Thr2954Ser) c.8791A>T (p.Thr2931Ser) c.7195A>T (p.Thr2399Ser) n.9331A>T | |
| 6 | g.51748561T>C | CA364424069 | PKHD1 | c.9055A>G (p.Thr3019Ala) c.8926A>G (p.Thr2976Ala) c.8917A>G (p.Thr2973Ala) c.8413A>G (p.Thr2805Ala) c.8344A>G (p.Thr2782Ala) c.3130A>G (p.Thr1044Ala) c.8980A>G (p.Thr2994Ala) c.8860A>G (p.Thr2954Ala) c.8791A>G (p.Thr2931Ala) c.7195A>G (p.Thr2399Ala) n.9331A>G | |
| 6 | g.51748561T>G | CA364424067 | PKHD1 | c.9055A>C (p.Thr3019Pro) c.8926A>C (p.Thr2976Pro) c.8917A>C (p.Thr2973Pro) c.8413A>C (p.Thr2805Pro) c.8344A>C (p.Thr2782Pro) c.3130A>C (p.Thr1044Pro) c.8980A>C (p.Thr2994Pro) c.8860A>C (p.Thr2954Pro) c.8791A>C (p.Thr2931Pro) c.7195A>C (p.Thr2399Pro) n.9331A>C | |
| 6 | g.51748562A>C | CA450613991 | PKHD1 | c.9054T>G (p.Ser3018=) c.8925T>G (p.Ser2975=) c.8916T>G (p.Ser2972=) c.8412T>G (p.Ser2804=) c.8343T>G (p.Ser2781=) c.3129T>G (p.Ser1043=) c.8979T>G (p.Ser2993=) c.8859T>G (p.Ser2953=) c.8790T>G (p.Ser2930=) c.7194T>G (p.Ser2398=) n.9330T>G | |
| 6 | g.51748562A>G | CA450613992 | PKHD1 | c.9054T>C (p.Ser3018=) c.8925T>C (p.Ser2975=) c.8916T>C (p.Ser2972=) c.8412T>C (p.Ser2804=) c.8343T>C (p.Ser2781=) c.3129T>C (p.Ser1043=) c.8979T>C (p.Ser2993=) c.8859T>C (p.Ser2953=) c.8790T>C (p.Ser2930=) c.7194T>C (p.Ser2398=) n.9330T>C | |
| 6 | g.51748562A>T | CA450613993 | PKHD1 | c.9054T>A (p.Ser3018=) c.8925T>A (p.Ser2975=) c.8916T>A (p.Ser2972=) c.8412T>A (p.Ser2804=) c.8343T>A (p.Ser2781=) c.3129T>A (p.Ser1043=) c.8979T>A (p.Ser2993=) c.8859T>A (p.Ser2953=) c.8790T>A (p.Ser2930=) c.7194T>A (p.Ser2398=) n.9330T>A | |
| 6 | g.51748563G>A | CA253010 | PKHD1 | c.9053C>T (p.Ser3018Phe) c.8924C>T (p.Ser2975Phe) c.8915C>T (p.Ser2972Phe) c.8411C>T (p.Ser2804Phe) c.8342C>T (p.Ser2781Phe) c.3128C>T (p.Ser1043Phe) c.8978C>T (p.Ser2993Phe) c.8858C>T (p.Ser2953Phe) c.8789C>T (p.Ser2930Phe) c.7193C>T (p.Ser2398Phe) n.9329C>T | ClinVar dbSNP |
| 6 | g.51748563G>C | CA364424070 | PKHD1 | c.9053C>G (p.Ser3018Cys) c.8924C>G (p.Ser2975Cys) c.8915C>G (p.Ser2972Cys) c.8411C>G (p.Ser2804Cys) c.8342C>G (p.Ser2781Cys) c.3128C>G (p.Ser1043Cys) c.8978C>G (p.Ser2993Cys) c.8858C>G (p.Ser2953Cys) c.8789C>G (p.Ser2930Cys) c.7193C>G (p.Ser2398Cys) n.9329C>G | gnomAD v4 |
| 6 | g.51748563G= | CA1628503757 | PKHD1 | c.9053C= (p.Ser3018=) c.8924C= (p.Ser2975=) c.8915C= (p.Ser2972=) c.8411C= (p.Ser2804=) c.8342C= (p.Ser2781=) c.3128C= (p.Ser1043=) c.8978C= (p.Ser2993=) c.8858C= (p.Ser2953=) c.8789C= (p.Ser2930=) c.7193C= (p.Ser2398=) n.9329C= | |
| 6 | g.51748563G>T | CA364424071 | PKHD1 | c.9053C>A (p.Ser3018Tyr) c.8924C>A (p.Ser2975Tyr) c.8915C>A (p.Ser2972Tyr) c.8411C>A (p.Ser2804Tyr) c.8342C>A (p.Ser2781Tyr) c.3128C>A (p.Ser1043Tyr) c.8978C>A (p.Ser2993Tyr) c.8858C>A (p.Ser2953Tyr) c.8789C>A (p.Ser2930Tyr) c.7193C>A (p.Ser2398Tyr) n.9329C>A | |
| 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.51748564A>C | CA364424072 | PKHD1 | c.9052T>G (p.Ser3018Ala) c.8923T>G (p.Ser2975Ala) c.8914T>G (p.Ser2972Ala) c.8410T>G (p.Ser2804Ala) c.8341T>G (p.Ser2781Ala) c.3127T>G (p.Ser1043Ala) c.8977T>G (p.Ser2993Ala) c.8857T>G (p.Ser2953Ala) c.8788T>G (p.Ser2930Ala) c.7192T>G (p.Ser2398Ala) n.9328T>G | |
| 6 | g.51748564A>G | CA364424073 | PKHD1 | c.9052T>C (p.Ser3018Pro) c.8923T>C (p.Ser2975Pro) c.8914T>C (p.Ser2972Pro) c.8410T>C (p.Ser2804Pro) c.8341T>C (p.Ser2781Pro) c.3127T>C (p.Ser1043Pro) c.8977T>C (p.Ser2993Pro) c.8857T>C (p.Ser2953Pro) c.8788T>C (p.Ser2930Pro) c.7192T>C (p.Ser2398Pro) n.9328T>C | |
| 6 | g.51748564A>T | CA364424074 | PKHD1 | c.9052T>A (p.Ser3018Thr) c.8923T>A (p.Ser2975Thr) c.8914T>A (p.Ser2972Thr) c.8410T>A (p.Ser2804Thr) c.8341T>A (p.Ser2781Thr) c.3127T>A (p.Ser1043Thr) c.8977T>A (p.Ser2993Thr) c.8857T>A (p.Ser2953Thr) c.8788T>A (p.Ser2930Thr) c.7192T>A (p.Ser2398Thr) n.9328T>A | |
| 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 |