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.51748060del | CA276016 | PKHD1 | c.9559del (p.Ser3187LeufsTer?) c.9430del (p.Ser3144LeufsTer?) c.9421del (p.Ser3141LeufsTer?) c.8917del (p.Ser2973LeufsTer?) c.8848del (p.Ser2950LeufsTer?) c.3634del (p.Ser1212LeufsTer?) c.9484del (p.Ser3162LeufsTer?) c.9364del (p.Ser3122LeufsTer?) c.9295del (p.Ser3099LeufsTer?) c.7699del (p.Ser2567LeufsTer?) n.9835del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.51748060A>C | CA364420809 | PKHD1 | c.9556T>G (p.Phe3186Val) c.9427T>G (p.Phe3143Val) c.9418T>G (p.Phe3140Val) c.8914T>G (p.Phe2972Val) c.8845T>G (p.Phe2949Val) c.3631T>G (p.Phe1211Val) c.9481T>G (p.Phe3161Val) c.9361T>G (p.Phe3121Val) c.9292T>G (p.Phe3098Val) c.7696T>G (p.Phe2566Val) n.9832T>G | |
| 6 | g.51748060A>G | CA364420811 | PKHD1 | c.9556T>C (p.Phe3186Leu) c.9427T>C (p.Phe3143Leu) c.9418T>C (p.Phe3140Leu) c.8914T>C (p.Phe2972Leu) c.8845T>C (p.Phe2949Leu) c.3631T>C (p.Phe1211Leu) c.9481T>C (p.Phe3161Leu) c.9361T>C (p.Phe3121Leu) c.9292T>C (p.Phe3098Leu) c.7696T>C (p.Phe2566Leu) n.9832T>C | |
| 6 | g.51748060A>T | CA364420810 | PKHD1 | c.9556T>A (p.Phe3186Ile) c.9427T>A (p.Phe3143Ile) c.9418T>A (p.Phe3140Ile) c.8914T>A (p.Phe2972Ile) c.8845T>A (p.Phe2949Ile) c.3631T>A (p.Phe1211Ile) c.9481T>A (p.Phe3161Ile) c.9361T>A (p.Phe3121Ile) c.9292T>A (p.Phe3098Ile) c.7696T>A (p.Phe2566Ile) n.9832T>A | |
| 6 | g.51748061T>A | CA450613393 | PKHD1 | c.9555A>T (p.Val3185=) c.9426A>T (p.Val3142=) c.9417A>T (p.Val3139=) c.8913A>T (p.Val2971=) c.8844A>T (p.Val2948=) c.3630A>T (p.Val1210=) c.9480A>T (p.Val3160=) c.9360A>T (p.Val3120=) c.9291A>T (p.Val3097=) c.7695A>T (p.Val2565=) n.9831A>T | |
| 6 | g.51748061T>C | CA450613395 | PKHD1 | c.9555A>G (p.Val3185=) c.9426A>G (p.Val3142=) c.9417A>G (p.Val3139=) c.8913A>G (p.Val2971=) c.8844A>G (p.Val2948=) c.3630A>G (p.Val1210=) c.9480A>G (p.Val3160=) c.9360A>G (p.Val3120=) c.9291A>G (p.Val3097=) c.7695A>G (p.Val2565=) n.9831A>G | |
| 6 | g.51748061T>G | CA450613396 | PKHD1 | c.9555A>C (p.Val3185=) c.9426A>C (p.Val3142=) c.9417A>C (p.Val3139=) c.8913A>C (p.Val2971=) c.8844A>C (p.Val2948=) c.3630A>C (p.Val1210=) c.9480A>C (p.Val3160=) c.9360A>C (p.Val3120=) c.9291A>C (p.Val3097=) c.7695A>C (p.Val2565=) n.9831A>C | |
| 6 | g.51748062A>C | CA364420812 | PKHD1 | c.9554T>G (p.Val3185Gly) c.9425T>G (p.Val3142Gly) c.9416T>G (p.Val3139Gly) c.8912T>G (p.Val2971Gly) c.8843T>G (p.Val2948Gly) c.3629T>G (p.Val1210Gly) c.9479T>G (p.Val3160Gly) c.9359T>G (p.Val3120Gly) c.9290T>G (p.Val3097Gly) c.7694T>G (p.Val2565Gly) n.9830T>G | |
| 6 | g.51748062A>G | CA364420813 | PKHD1 | c.9554T>C (p.Val3185Ala) c.9425T>C (p.Val3142Ala) c.9416T>C (p.Val3139Ala) c.8912T>C (p.Val2971Ala) c.8843T>C (p.Val2948Ala) c.3629T>C (p.Val1210Ala) c.9479T>C (p.Val3160Ala) c.9359T>C (p.Val3120Ala) c.9290T>C (p.Val3097Ala) c.7694T>C (p.Val2565Ala) n.9830T>C | gnomAD v4 |
| 6 | g.51748062A>T | CA364420814 | PKHD1 | c.9554T>A (p.Val3185Glu) c.9425T>A (p.Val3142Glu) c.9416T>A (p.Val3139Glu) c.8912T>A (p.Val2971Glu) c.8843T>A (p.Val2948Glu) c.3629T>A (p.Val1210Glu) c.9479T>A (p.Val3160Glu) c.9359T>A (p.Val3120Glu) c.9290T>A (p.Val3097Glu) c.7694T>A (p.Val2565Glu) n.9830T>A | |
| 6 | g.51748063C>A | CA364420815 | PKHD1 | c.9553G>T (p.Val3185Leu) c.9424G>T (p.Val3142Leu) c.9415G>T (p.Val3139Leu) c.8911G>T (p.Val2971Leu) c.8842G>T (p.Val2948Leu) c.3628G>T (p.Val1210Leu) c.9478G>T (p.Val3160Leu) c.9358G>T (p.Val3120Leu) c.9289G>T (p.Val3097Leu) c.7693G>T (p.Val2565Leu) n.9829G>T | |
| 6 | g.51748063C= | CA1628502420 | PKHD1 | c.9553G= (p.Val3185=) c.9424G= (p.Val3142=) c.9415G= (p.Val3139=) c.8911G= (p.Val2971=) c.8842G= (p.Val2948=) c.3628G= (p.Val1210=) c.9478G= (p.Val3160=) c.9358G= (p.Val3120=) c.9289G= (p.Val3097=) c.7693G= (p.Val2565=) n.9829G= | |
| 6 | g.51748063C>G | CA364420816 | PKHD1 | c.9553G>C (p.Val3185Leu) c.9424G>C (p.Val3142Leu) c.9415G>C (p.Val3139Leu) c.8911G>C (p.Val2971Leu) c.8842G>C (p.Val2948Leu) c.3628G>C (p.Val1210Leu) c.9478G>C (p.Val3160Leu) c.9358G>C (p.Val3120Leu) c.9289G>C (p.Val3097Leu) c.7693G>C (p.Val2565Leu) n.9829G>C | |
| 6 | g.51748063C>T | CA3851373 | PKHD1 | c.9553G>A (p.Val3185Ile) c.9424G>A (p.Val3142Ile) c.9415G>A (p.Val3139Ile) c.8911G>A (p.Val2971Ile) c.8842G>A (p.Val2948Ile) c.3628G>A (p.Val1210Ile) c.9478G>A (p.Val3160Ile) c.9358G>A (p.Val3120Ile) c.9289G>A (p.Val3097Ile) c.7693G>A (p.Val2565Ile) n.9829G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51748064A= | CA1628502429 | PKHD1 | c.9552T= (p.Tyr3184=) c.9423T= (p.Tyr3141=) c.9414T= (p.Tyr3138=) c.8910T= (p.Tyr2970=) c.8841T= (p.Tyr2947=) c.3627T= (p.Tyr1209=) c.9477T= (p.Tyr3159=) c.9357T= (p.Tyr3119=) c.9288T= (p.Tyr3096=) c.7692T= (p.Tyr2564=) n.9828T= | |
| 6 | g.51748064A>C | CA364420817 | PKHD1 | c.9552T>G (p.Tyr3184Ter) c.9423T>G (p.Tyr3141Ter) c.9414T>G (p.Tyr3138Ter) c.8910T>G (p.Tyr2970Ter) c.8841T>G (p.Tyr2947Ter) c.3627T>G (p.Tyr1209Ter) c.9477T>G (p.Tyr3159Ter) c.9357T>G (p.Tyr3119Ter) c.9288T>G (p.Tyr3096Ter) c.7692T>G (p.Tyr2564Ter) n.9828T>G | ClinVar |
| 6 | g.51748064A>G | CA450613400 | PKHD1 | c.9552T>C (p.Tyr3184=) c.9423T>C (p.Tyr3141=) c.9414T>C (p.Tyr3138=) c.8910T>C (p.Tyr2970=) c.8841T>C (p.Tyr2947=) c.3627T>C (p.Tyr1209=) c.9477T>C (p.Tyr3159=) c.9357T>C (p.Tyr3119=) c.9288T>C (p.Tyr3096=) c.7692T>C (p.Tyr2564=) n.9828T>C | |
| 6 | g.51748064A>T | CA364420818 | PKHD1 | c.9552T>A (p.Tyr3184Ter) c.9423T>A (p.Tyr3141Ter) c.9414T>A (p.Tyr3138Ter) c.8910T>A (p.Tyr2970Ter) c.8841T>A (p.Tyr2947Ter) c.3627T>A (p.Tyr1209Ter) c.9477T>A (p.Tyr3159Ter) c.9357T>A (p.Tyr3119Ter) c.9288T>A (p.Tyr3096Ter) c.7692T>A (p.Tyr2564Ter) n.9828T>A | |
| 6 | g.51748065T>A | CA364420819 | PKHD1 | c.9551A>T (p.Tyr3184Phe) c.9422A>T (p.Tyr3141Phe) c.9413A>T (p.Tyr3138Phe) c.8909A>T (p.Tyr2970Phe) c.8840A>T (p.Tyr2947Phe) c.3626A>T (p.Tyr1209Phe) c.9476A>T (p.Tyr3159Phe) c.9356A>T (p.Tyr3119Phe) c.9287A>T (p.Tyr3096Phe) c.7691A>T (p.Tyr2564Phe) n.9827A>T | gnomAD v4 |
| 6 | g.51748065T>C | CA364420820 | PKHD1 | c.9551A>G (p.Tyr3184Cys) c.9422A>G (p.Tyr3141Cys) c.9413A>G (p.Tyr3138Cys) c.8909A>G (p.Tyr2970Cys) c.8840A>G (p.Tyr2947Cys) c.3626A>G (p.Tyr1209Cys) c.9476A>G (p.Tyr3159Cys) c.9356A>G (p.Tyr3119Cys) c.9287A>G (p.Tyr3096Cys) c.7691A>G (p.Tyr2564Cys) n.9827A>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.51748065T>G | CA364420821 | PKHD1 | c.9551A>C (p.Tyr3184Ser) c.9422A>C (p.Tyr3141Ser) c.9413A>C (p.Tyr3138Ser) c.8909A>C (p.Tyr2970Ser) c.8840A>C (p.Tyr2947Ser) c.3626A>C (p.Tyr1209Ser) c.9476A>C (p.Tyr3159Ser) c.9356A>C (p.Tyr3119Ser) c.9287A>C (p.Tyr3096Ser) c.7691A>C (p.Tyr2564Ser) n.9827A>C | |
| 6 | g.51748065T= | CA1628502431 | PKHD1 | c.9551A= (p.Tyr3184=) c.9422A= (p.Tyr3141=) c.9413A= (p.Tyr3138=) c.8909A= (p.Tyr2970=) c.8840A= (p.Tyr2947=) c.3626A= (p.Tyr1209=) c.9476A= (p.Tyr3159=) c.9356A= (p.Tyr3119=) c.9287A= (p.Tyr3096=) c.7691A= (p.Tyr2564=) n.9827A= | |
| 6 | g.51748065_51748067dup | CA1628502430 | PKHD1 | c.9549_9551dup (p.Tyr3184Ter) c.9420_9422dup (p.Tyr3141Ter) c.9411_9413dup (p.Tyr3138Ter) c.8907_8909dup (p.Tyr2970Ter) c.8838_8840dup (p.Tyr2947Ter) c.3624_3626dup (p.Tyr1209Ter) c.9474_9476dup (p.Tyr3159Ter) c.9354_9356dup (p.Tyr3119Ter) c.9285_9287dup (p.Tyr3096Ter) c.7689_7691dup (p.Tyr2564Ter) n.9825_9827dup | dbSNP |
| 6 | g.51748066A>C | CA364420824 | PKHD1 | c.9550T>G (p.Tyr3184Asp) c.9421T>G (p.Tyr3141Asp) c.9412T>G (p.Tyr3138Asp) c.8908T>G (p.Tyr2970Asp) c.8839T>G (p.Tyr2947Asp) c.3625T>G (p.Tyr1209Asp) c.9475T>G (p.Tyr3159Asp) c.9355T>G (p.Tyr3119Asp) c.9286T>G (p.Tyr3096Asp) c.7690T>G (p.Tyr2564Asp) n.9826T>G | |
| 6 | g.51748066A>G | CA364420822 | PKHD1 | c.9550T>C (p.Tyr3184His) c.9421T>C (p.Tyr3141His) c.9412T>C (p.Tyr3138His) c.8908T>C (p.Tyr2970His) c.8839T>C (p.Tyr2947His) c.3625T>C (p.Tyr1209His) c.9475T>C (p.Tyr3159His) c.9355T>C (p.Tyr3119His) c.9286T>C (p.Tyr3096His) c.7690T>C (p.Tyr2564His) n.9826T>C | |
| 6 | g.51748066A>T | CA364420823 | PKHD1 | c.9550T>A (p.Tyr3184Asn) c.9421T>A (p.Tyr3141Asn) c.9412T>A (p.Tyr3138Asn) c.8908T>A (p.Tyr2970Asn) c.8839T>A (p.Tyr2947Asn) c.3625T>A (p.Tyr1209Asn) c.9475T>A (p.Tyr3159Asn) c.9355T>A (p.Tyr3119Asn) c.9286T>A (p.Tyr3096Asn) c.7690T>A (p.Tyr2564Asn) n.9826T>A | |
| 6 | g.51748067C>A | CA450613407 | PKHD1 | c.9549G>T (p.Val3183=) c.9420G>T (p.Val3140=) c.9411G>T (p.Val3137=) c.8907G>T (p.Val2969=) c.8838G>T (p.Val2946=) c.3624G>T (p.Val1208=) c.9474G>T (p.Val3158=) c.9354G>T (p.Val3118=) c.9285G>T (p.Val3095=) c.7689G>T (p.Val2563=) n.9825G>T | |
| 6 | g.51748067C= | CA1628502436 | PKHD1 | c.9549G= (p.Val3183=) c.9420G= (p.Val3140=) c.9411G= (p.Val3137=) c.8907G= (p.Val2969=) c.8838G= (p.Val2946=) c.3624G= (p.Val1208=) c.9474G= (p.Val3158=) c.9354G= (p.Val3118=) c.9285G= (p.Val3095=) c.7689G= (p.Val2563=) n.9825G= | |
| 6 | g.51748067C>G | CA450613409 | PKHD1 | c.9549G>C (p.Val3183=) c.9420G>C (p.Val3140=) c.9411G>C (p.Val3137=) c.8907G>C (p.Val2969=) c.8838G>C (p.Val2946=) c.3624G>C (p.Val1208=) c.9474G>C (p.Val3158=) c.9354G>C (p.Val3118=) c.9285G>C (p.Val3095=) c.7689G>C (p.Val2563=) n.9825G>C | |
| 6 | g.51748067C>T | CA3851374 | PKHD1 | c.9549G>A (p.Val3183=) c.9420G>A (p.Val3140=) c.9411G>A (p.Val3137=) c.8907G>A (p.Val2969=) c.8838G>A (p.Val2946=) c.3624G>A (p.Val1208=) c.9474G>A (p.Val3158=) c.9354G>A (p.Val3118=) c.9285G>A (p.Val3095=) c.7689G>A (p.Val2563=) n.9825G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.51748068A= | CA1628502438 | PKHD1 | c.9548T= (p.Val3183=) c.9419T= (p.Val3140=) c.9410T= (p.Val3137=) c.8906T= (p.Val2969=) c.8837T= (p.Val2946=) c.3623T= (p.Val1208=) c.9473T= (p.Val3158=) c.9353T= (p.Val3118=) c.9284T= (p.Val3095=) c.7688T= (p.Val2563=) n.9824T= | |
| 6 | g.51748068A>C | CA364420825 | PKHD1 | c.9548T>G (p.Val3183Gly) c.9419T>G (p.Val3140Gly) c.9410T>G (p.Val3137Gly) c.8906T>G (p.Val2969Gly) c.8837T>G (p.Val2946Gly) c.3623T>G (p.Val1208Gly) c.9473T>G (p.Val3158Gly) c.9353T>G (p.Val3118Gly) c.9284T>G (p.Val3095Gly) c.7688T>G (p.Val2563Gly) n.9824T>G | |
| 6 | g.51748068A>G | CA364420826 | PKHD1 | c.9548T>C (p.Val3183Ala) c.9419T>C (p.Val3140Ala) c.9410T>C (p.Val3137Ala) c.8906T>C (p.Val2969Ala) c.8837T>C (p.Val2946Ala) c.3623T>C (p.Val1208Ala) c.9473T>C (p.Val3158Ala) c.9353T>C (p.Val3118Ala) c.9284T>C (p.Val3095Ala) c.7688T>C (p.Val2563Ala) n.9824T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51748068A>T | CA364420827 | PKHD1 | c.9548T>A (p.Val3183Glu) c.9419T>A (p.Val3140Glu) c.9410T>A (p.Val3137Glu) c.8906T>A (p.Val2969Glu) c.8837T>A (p.Val2946Glu) c.3623T>A (p.Val1208Glu) c.9473T>A (p.Val3158Glu) c.9353T>A (p.Val3118Glu) c.9284T>A (p.Val3095Glu) c.7688T>A (p.Val2563Glu) n.9824T>A | |
| 6 | g.51748069C>A | CA364420828 | PKHD1 | c.9547G>T (p.Val3183Leu) c.9418G>T (p.Val3140Leu) c.9409G>T (p.Val3137Leu) c.8905G>T (p.Val2969Leu) c.8836G>T (p.Val2946Leu) c.3622G>T (p.Val1208Leu) c.9472G>T (p.Val3158Leu) c.9352G>T (p.Val3118Leu) c.9283G>T (p.Val3095Leu) c.7687G>T (p.Val2563Leu) n.9823G>T | |
| 6 | g.51748069C>G | CA364420829 | PKHD1 | c.9547G>C (p.Val3183Leu) c.9418G>C (p.Val3140Leu) c.9409G>C (p.Val3137Leu) c.8905G>C (p.Val2969Leu) c.8836G>C (p.Val2946Leu) c.3622G>C (p.Val1208Leu) c.9472G>C (p.Val3158Leu) c.9352G>C (p.Val3118Leu) c.9283G>C (p.Val3095Leu) c.7687G>C (p.Val2563Leu) n.9823G>C | |
| 6 | g.51748069C>T | CA364420830 | PKHD1 | c.9547G>A (p.Val3183Met) c.9418G>A (p.Val3140Met) c.9409G>A (p.Val3137Met) c.8905G>A (p.Val2969Met) c.8836G>A (p.Val2946Met) c.3622G>A (p.Val1208Met) c.9472G>A (p.Val3158Met) c.9352G>A (p.Val3118Met) c.9283G>A (p.Val3095Met) c.7687G>A (p.Val2563Met) n.9823G>A | |
| 6 | g.51748070T>A | CA450613413 | PKHD1 | c.9546A>T (p.Val3182=) c.9417A>T (p.Val3139=) c.9408A>T (p.Val3136=) c.8904A>T (p.Val2968=) c.8835A>T (p.Val2945=) c.3621A>T (p.Val1207=) c.9471A>T (p.Val3157=) c.9351A>T (p.Val3117=) c.9282A>T (p.Val3094=) c.7686A>T (p.Val2562=) n.9822A>T | |
| 6 | g.51748070T>C | CA3851375 | PKHD1 | c.9546A>G (p.Val3182=) c.9417A>G (p.Val3139=) c.9408A>G (p.Val3136=) c.8904A>G (p.Val2968=) c.8835A>G (p.Val2945=) c.3621A>G (p.Val1207=) c.9471A>G (p.Val3157=) c.9351A>G (p.Val3117=) c.9282A>G (p.Val3094=) c.7686A>G (p.Val2562=) n.9822A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.51748070T>G | CA450613414 | PKHD1 | c.9546A>C (p.Val3182=) c.9417A>C (p.Val3139=) c.9408A>C (p.Val3136=) c.8904A>C (p.Val2968=) c.8835A>C (p.Val2945=) c.3621A>C (p.Val1207=) c.9471A>C (p.Val3157=) c.9351A>C (p.Val3117=) c.9282A>C (p.Val3094=) c.7686A>C (p.Val2562=) n.9822A>C | |
| 6 | g.51748070T= | CA1628502444 | PKHD1 | c.9546A= (p.Val3182=) c.9417A= (p.Val3139=) c.9408A= (p.Val3136=) c.8904A= (p.Val2968=) c.8835A= (p.Val2945=) c.3621A= (p.Val1207=) c.9471A= (p.Val3157=) c.9351A= (p.Val3117=) c.9282A= (p.Val3094=) c.7686A= (p.Val2562=) n.9822A= | |
| 6 | g.51748071A>C | CA364420831 | PKHD1 | c.9545T>G (p.Val3182Gly) c.9416T>G (p.Val3139Gly) c.9407T>G (p.Val3136Gly) c.8903T>G (p.Val2968Gly) c.8834T>G (p.Val2945Gly) c.3620T>G (p.Val1207Gly) c.9470T>G (p.Val3157Gly) c.9350T>G (p.Val3117Gly) c.9281T>G (p.Val3094Gly) c.7685T>G (p.Val2562Gly) n.9821T>G | |
| 6 | g.51748071A>G | CA364420832 | PKHD1 | c.9545T>C (p.Val3182Ala) c.9416T>C (p.Val3139Ala) c.9407T>C (p.Val3136Ala) c.8903T>C (p.Val2968Ala) c.8834T>C (p.Val2945Ala) c.3620T>C (p.Val1207Ala) c.9470T>C (p.Val3157Ala) c.9350T>C (p.Val3117Ala) c.9281T>C (p.Val3094Ala) c.7685T>C (p.Val2562Ala) n.9821T>C | |
| 6 | g.51748071A>T | CA364420833 | PKHD1 | c.9545T>A (p.Val3182Glu) c.9416T>A (p.Val3139Glu) c.9407T>A (p.Val3136Glu) c.8903T>A (p.Val2968Glu) c.8834T>A (p.Val2945Glu) c.3620T>A (p.Val1207Glu) c.9470T>A (p.Val3157Glu) c.9350T>A (p.Val3117Glu) c.9281T>A (p.Val3094Glu) c.7685T>A (p.Val2562Glu) n.9821T>A | |
| 6 | g.51748072C>A | CA364420835 | PKHD1 | c.9544G>T (p.Val3182Leu) c.9415G>T (p.Val3139Leu) c.9406G>T (p.Val3136Leu) c.8902G>T (p.Val2968Leu) c.8833G>T (p.Val2945Leu) c.3619G>T (p.Val1207Leu) c.9469G>T (p.Val3157Leu) c.9349G>T (p.Val3117Leu) c.9280G>T (p.Val3094Leu) c.7684G>T (p.Val2562Leu) n.9820G>T | |
| 6 | g.51748072C= | CA1628502455 | PKHD1 | c.9544G= (p.Val3182=) c.9415G= (p.Val3139=) c.9406G= (p.Val3136=) c.8902G= (p.Val2968=) c.8833G= (p.Val2945=) c.3619G= (p.Val1207=) c.9469G= (p.Val3157=) c.9349G= (p.Val3117=) c.9280G= (p.Val3094=) c.7684G= (p.Val2562=) n.9820G= | |
| 6 | g.51748072C>G | CA364420834 | PKHD1 | c.9544G>C (p.Val3182Leu) c.9415G>C (p.Val3139Leu) c.9406G>C (p.Val3136Leu) c.8902G>C (p.Val2968Leu) c.8833G>C (p.Val2945Leu) c.3619G>C (p.Val1207Leu) c.9469G>C (p.Val3157Leu) c.9349G>C (p.Val3117Leu) c.9280G>C (p.Val3094Leu) c.7684G>C (p.Val2562Leu) n.9820G>C | |
| 6 | g.51748072C>T | CA3851376 | PKHD1 | c.9544G>A (p.Val3182Ile) c.9415G>A (p.Val3139Ile) c.9406G>A (p.Val3136Ile) c.8902G>A (p.Val2968Ile) c.8833G>A (p.Val2945Ile) c.3619G>A (p.Val1207Ile) c.9469G>A (p.Val3157Ile) c.9349G>A (p.Val3117Ile) c.9280G>A (p.Val3094Ile) c.7684G>A (p.Val2562Ile) n.9820G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.51748073T>A | CA450613416 | PKHD1 | c.9543A>T (p.Ala3181=) c.9414A>T (p.Ala3138=) c.9405A>T (p.Ala3135=) c.8901A>T (p.Ala2967=) c.8832A>T (p.Ala2944=) c.3618A>T (p.Ala1206=) c.9468A>T (p.Ala3156=) c.9348A>T (p.Ala3116=) c.9279A>T (p.Ala3093=) c.7683A>T (p.Ala2561=) n.9819A>T | |
| 6 | g.51748073T>C | CA450613417 | PKHD1 | c.9543A>G (p.Ala3181=) c.9414A>G (p.Ala3138=) c.9405A>G (p.Ala3135=) c.8901A>G (p.Ala2967=) c.8832A>G (p.Ala2944=) c.3618A>G (p.Ala1206=) c.9468A>G (p.Ala3156=) c.9348A>G (p.Ala3116=) c.9279A>G (p.Ala3093=) c.7683A>G (p.Ala2561=) n.9819A>G | ClinVar dbSNP |