Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2114489A=CA2202049741PKD1c.2534T= (p.Leu845=)
c.472+3000T=
c.1465T= (n.1465T=)
c.2588T= (p.Leu863=)
c.2516T= (p.Leu839=)
c.2462T= (p.Leu821=)
c.2381T= (p.Leu794=)
c.2324T= (p.Leu775=)
c.410T= (p.Leu137=)
n.2603T=
c.-516T= (n.-516T=)
16g.2114489A>CCA394387579PKD1c.2534T>G (p.Leu845Trp)
c.472+3000T>G
c.1465T>G (n.1465T>G)
c.2588T>G (p.Leu863Trp)
c.2516T>G (p.Leu839Trp)
c.2462T>G (p.Leu821Trp)
c.2381T>G (p.Leu794Trp)
c.2324T>G (p.Leu775Trp)
c.410T>G (p.Leu137Trp)
n.2603T>G
c.-516T>G (n.-516T>G)
16g.2114489A>GCA119381PKD1c.2534T>C (p.Leu845Ser)
c.472+3000T>C
c.1465T>C (n.1465T>C)
c.2588T>C (p.Leu863Ser)
c.2516T>C (p.Leu839Ser)
c.2462T>C (p.Leu821Ser)
c.2381T>C (p.Leu794Ser)
c.2324T>C (p.Leu775Ser)
c.410T>C (p.Leu137Ser)
n.2603T>C
c.-516T>C (n.-516T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2114489A>TCA394387577PKD1c.2534T>A (p.Leu845Ter)
c.472+3000T>A
c.1465T>A (n.1465T>A)
c.2588T>A (p.Leu863Ter)
c.2516T>A (p.Leu839Ter)
c.2462T>A (p.Leu821Ter)
c.2381T>A (p.Leu794Ter)
c.2324T>A (p.Leu775Ter)
c.410T>A (p.Leu137Ter)
n.2603T>A
c.-516T>A (n.-516T>A)
 ClinVar dbSNP
16g.2114490A>CCA394387581PKD1c.2533T>G (p.Leu845Val)
c.472+2999T>G
c.1464T>G (n.1464T>G)
c.2587T>G (p.Leu863Val)
c.2515T>G (p.Leu839Val)
c.2461T>G (p.Leu821Val)
c.2380T>G (p.Leu794Val)
c.2323T>G (p.Leu775Val)
c.409T>G (p.Leu137Val)
n.2602T>G
c.-517T>G (n.-517T>G)
16g.2114490A>GCA493049725PKD1c.2533T>C (p.Leu845=)
c.472+2999T>C
c.1464T>C (n.1464T>C)
c.2587T>C (p.Leu863=)
c.2515T>C (p.Leu839=)
c.2461T>C (p.Leu821=)
c.2380T>C (p.Leu794=)
c.2323T>C (p.Leu775=)
c.409T>C (p.Leu137=)
n.2602T>C
c.-517T>C (n.-517T>C)
16g.2114490A>TCA394387582PKD1c.2533T>A (p.Leu845Met)
c.472+2999T>A
c.1464T>A (n.1464T>A)
c.2587T>A (p.Leu863Met)
c.2515T>A (p.Leu839Met)
c.2461T>A (p.Leu821Met)
c.2380T>A (p.Leu794Met)
c.2323T>A (p.Leu775Met)
c.409T>A (p.Leu137Met)
n.2602T>A
c.-517T>A (n.-517T>A)
16g.2114490_2114491insCCA2575879040PKD1c.2532_2533insG (p.Leu845ValfsTer27)
c.472+2998_472+2999insG
c.1463_1464insG (n.1463_1464insG)
c.2586_2587insG (p.Leu863ValfsTer27)
c.2514_2515insG (p.Leu839ValfsTer27)
c.2460_2461insG (p.Leu821ValfsTer27)
c.2379_2380insG (p.Leu794ValfsTer27)
c.2322_2323insG (p.Leu775ValfsTer27)
c.408_409insG (p.Leu137ValfsTer27)
n.2601_2602insG
c.-518_-517insG (n.-518_-517insG)
16g.2114491G>ACA7833177PKD1c.2532C>T (p.Ala844=)
c.472+2998C>T
c.1463C>T (n.1463C>T)
c.2586C>T (p.Ala862=)
c.2514C>T (p.Ala838=)
c.2460C>T (p.Ala820=)
c.2379C>T (p.Ala793=)
c.2322C>T (p.Ala774=)
c.408C>T (p.Ala136=)
n.2601C>T
c.-518C>T (n.-518C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114491G>CCA493049727PKD1c.2532C>G (p.Ala844=)
c.472+2998C>G
c.1463C>G (n.1463C>G)
c.2586C>G (p.Ala862=)
c.2514C>G (p.Ala838=)
c.2460C>G (p.Ala820=)
c.2379C>G (p.Ala793=)
c.2322C>G (p.Ala774=)
c.408C>G (p.Ala136=)
n.2601C>G
c.-518C>G (n.-518C>G)
16g.2114491G=CA2202049742PKD1c.2532C= (p.Ala844=)
c.472+2998C=
c.1463C= (n.1463C=)
c.2586C= (p.Ala862=)
c.2514C= (p.Ala838=)
c.2460C= (p.Ala820=)
c.2379C= (p.Ala793=)
c.2322C= (p.Ala774=)
c.408C= (p.Ala136=)
n.2601C=
c.-518C= (n.-518C=)
16g.2114491G>TCA493049728PKD1c.2532C>A (p.Ala844=)
c.472+2998C>A
c.1463C>A (n.1463C>A)
c.2586C>A (p.Ala862=)
c.2514C>A (p.Ala838=)
c.2460C>A (p.Ala820=)
c.2379C>A (p.Ala793=)
c.2322C>A (p.Ala774=)
c.408C>A (p.Ala136=)
n.2601C>A
c.-518C>A (n.-518C>A)
16g.2114492G>ACA394387585PKD1c.2531C>T (p.Ala844Val)
c.472+2997C>T
c.1462C>T (n.1462C>T)
c.2585C>T (p.Ala862Val)
c.2513C>T (p.Ala838Val)
c.2459C>T (p.Ala820Val)
c.2378C>T (p.Ala793Val)
c.2321C>T (p.Ala774Val)
c.407C>T (p.Ala136Val)
n.2600C>T
c.-519C>T (n.-519C>T)
 dbSNP gnomAD v4
16g.2114492G>CCA394387586PKD1c.2531C>G (p.Ala844Gly)
c.472+2997C>G
c.1462C>G (n.1462C>G)
c.2585C>G (p.Ala862Gly)
c.2513C>G (p.Ala838Gly)
c.2459C>G (p.Ala820Gly)
c.2378C>G (p.Ala793Gly)
c.2321C>G (p.Ala774Gly)
c.407C>G (p.Ala136Gly)
n.2600C>G
c.-519C>G (n.-519C>G)
16g.2114492G=CA2202049743PKD1c.2531C= (p.Ala844=)
c.472+2997C=
c.1462C= (n.1462C=)
c.2585C= (p.Ala862=)
c.2513C= (p.Ala838=)
c.2459C= (p.Ala820=)
c.2378C= (p.Ala793=)
c.2321C= (p.Ala774=)
c.407C= (p.Ala136=)
n.2600C=
c.-519C= (n.-519C=)
16g.2114492G>TCA394387587PKD1c.2531C>A (p.Ala844Asp)
c.472+2997C>A
c.1462C>A (n.1462C>A)
c.2585C>A (p.Ala862Asp)
c.2513C>A (p.Ala838Asp)
c.2459C>A (p.Ala820Asp)
c.2378C>A (p.Ala793Asp)
c.2321C>A (p.Ala774Asp)
c.407C>A (p.Ala136Asp)
n.2600C>A
c.-519C>A (n.-519C>A)
16g.2114493C>ACA394387589PKD1c.2530G>T (p.Ala844Ser)
c.472+2996G>T
c.1461G>T (n.1461G>T)
c.2584G>T (p.Ala862Ser)
c.2512G>T (p.Ala838Ser)
c.2458G>T (p.Ala820Ser)
c.2377G>T (p.Ala793Ser)
c.2320G>T (p.Ala774Ser)
c.406G>T (p.Ala136Ser)
n.2599G>T
c.-520G>T (n.-520G>T)
 gnomAD v4
16g.2114493C=CA2202049744PKD1c.2530G= (p.Ala844=)
c.472+2996G=
c.1461G= (n.1461G=)
c.2584G= (p.Ala862=)
c.2512G= (p.Ala838=)
c.2458G= (p.Ala820=)
c.2377G= (p.Ala793=)
c.2320G= (p.Ala774=)
c.406G= (p.Ala136=)
n.2599G=
c.-520G= (n.-520G=)
16g.2114493C>GCA394387592PKD1c.2530G>C (p.Ala844Pro)
c.472+2996G>C
c.1461G>C (n.1461G>C)
c.2584G>C (p.Ala862Pro)
c.2512G>C (p.Ala838Pro)
c.2458G>C (p.Ala820Pro)
c.2377G>C (p.Ala793Pro)
c.2320G>C (p.Ala774Pro)
c.406G>C (p.Ala136Pro)
n.2599G>C
c.-520G>C (n.-520G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114493C>TCA394387591PKD1c.2530G>A (p.Ala844Thr)
c.472+2996G>A
c.1461G>A (n.1461G>A)
c.2584G>A (p.Ala862Thr)
c.2512G>A (p.Ala838Thr)
c.2458G>A (p.Ala820Thr)
c.2377G>A (p.Ala793Thr)
c.2320G>A (p.Ala774Thr)
c.406G>A (p.Ala136Thr)
n.2599G>A
c.-520G>A (n.-520G>A)
 gnomAD v4
16g.2114494T>ACA493049733PKD1c.2529A>T (p.Ser843=)
c.472+2995A>T
c.1460A>T (n.1460A>T)
c.2583A>T (p.Ser861=)
c.2511A>T (p.Ser837=)
c.2457A>T (p.Ser819=)
c.2376A>T (p.Ser792=)
c.2319A>T (p.Ser773=)
c.405A>T (p.Ser135=)
n.2598A>T
c.-521A>T (n.-521A>T)
16g.2114494T>CCA493049734PKD1c.2529A>G (p.Ser843=)
c.472+2995A>G
c.1460A>G (n.1460A>G)
c.2583A>G (p.Ser861=)
c.2511A>G (p.Ser837=)
c.2457A>G (p.Ser819=)
c.2376A>G (p.Ser792=)
c.2319A>G (p.Ser773=)
c.405A>G (p.Ser135=)
n.2598A>G
c.-521A>G (n.-521A>G)
16g.2114494T>GCA493049735PKD1c.2529A>C (p.Ser843=)
c.472+2995A>C
c.1460A>C (n.1460A>C)
c.2583A>C (p.Ser861=)
c.2511A>C (p.Ser837=)
c.2457A>C (p.Ser819=)
c.2376A>C (p.Ser792=)
c.2319A>C (p.Ser773=)
c.405A>C (p.Ser135=)
n.2598A>C
c.-521A>C (n.-521A>C)
16g.2114495G>ACA394387594PKD1c.2528C>T (p.Ser843Leu)
c.472+2994C>T
c.1459C>T (n.1459C>T)
c.2582C>T (p.Ser861Leu)
c.2510C>T (p.Ser837Leu)
c.2456C>T (p.Ser819Leu)
c.2375C>T (p.Ser792Leu)
c.2318C>T (p.Ser773Leu)
c.404C>T (p.Ser135Leu)
n.2597C>T
c.-522C>T (n.-522C>T)
16g.2114495G>CCA394387595PKD1c.2528C>G (p.Ser843Ter)
c.472+2994C>G
c.1459C>G (n.1459C>G)
c.2582C>G (p.Ser861Ter)
c.2510C>G (p.Ser837Ter)
c.2456C>G (p.Ser819Ter)
c.2375C>G (p.Ser792Ter)
c.2318C>G (p.Ser773Ter)
c.404C>G (p.Ser135Ter)
n.2597C>G
c.-522C>G (n.-522C>G)
 ClinVar dbSNP
16g.2114495G=CA2202049745PKD1c.2528C= (p.Ser843=)
c.472+2994C=
c.1459C= (n.1459C=)
c.2582C= (p.Ser861=)
c.2510C= (p.Ser837=)
c.2456C= (p.Ser819=)
c.2375C= (p.Ser792=)
c.2318C= (p.Ser773=)
c.404C= (p.Ser135=)
n.2597C=
c.-522C= (n.-522C=)
16g.2114495G>TCA394387597PKD1c.2528C>A (p.Ser843Ter)
c.472+2994C>A
c.1459C>A (n.1459C>A)
c.2582C>A (p.Ser861Ter)
c.2510C>A (p.Ser837Ter)
c.2456C>A (p.Ser819Ter)
c.2375C>A (p.Ser792Ter)
c.2318C>A (p.Ser773Ter)
c.404C>A (p.Ser135Ter)
n.2597C>A
c.-522C>A (n.-522C>A)
16g.2114496A=CA2202049746PKD1c.2527T= (p.Ser843=)
c.472+2993T=
c.1458T= (n.1458T=)
c.2581T= (p.Ser861=)
c.2509T= (p.Ser837=)
c.2455T= (p.Ser819=)
c.2374T= (p.Ser792=)
c.2317T= (p.Ser773=)
c.403T= (p.Ser135=)
n.2596T=
c.-523T= (n.-523T=)
16g.2114496A>CCA394387598PKD1c.2527T>G (p.Ser843Ala)
c.472+2993T>G
c.1458T>G (n.1458T>G)
c.2581T>G (p.Ser861Ala)
c.2509T>G (p.Ser837Ala)
c.2455T>G (p.Ser819Ala)
c.2374T>G (p.Ser792Ala)
c.2317T>G (p.Ser773Ala)
c.403T>G (p.Ser135Ala)
n.2596T>G
c.-523T>G (n.-523T>G)
16g.2114496A>GCA7833178PKD1c.2527T>C (p.Ser843Pro)
c.472+2993T>C
c.1458T>C (n.1458T>C)
c.2581T>C (p.Ser861Pro)
c.2509T>C (p.Ser837Pro)
c.2455T>C (p.Ser819Pro)
c.2374T>C (p.Ser792Pro)
c.2317T>C (p.Ser773Pro)
c.403T>C (p.Ser135Pro)
n.2596T>C
c.-523T>C (n.-523T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114496A>TCA394387600PKD1c.2527T>A (p.Ser843Thr)
c.472+2993T>A
c.1458T>A (n.1458T>A)
c.2581T>A (p.Ser861Thr)
c.2509T>A (p.Ser837Thr)
c.2455T>A (p.Ser819Thr)
c.2374T>A (p.Ser792Thr)
c.2317T>A (p.Ser773Thr)
c.403T>A (p.Ser135Thr)
n.2596T>A
c.-523T>A (n.-523T>A)
16g.2114497G>ACA493049743PKD1c.2526C>T (p.Gly842=)
c.472+2992C>T
c.1457C>T (n.1457C>T)
c.2580C>T (p.Gly860=)
c.2508C>T (p.Gly836=)
c.2454C>T (p.Gly818=)
c.2373C>T (p.Gly791=)
c.2316C>T (p.Gly772=)
c.402C>T (p.Gly134=)
n.2595C>T
c.-524C>T (n.-524C>T)
 gnomAD v4
16g.2114497G>CCA493049745PKD1c.2526C>G (p.Gly842=)
c.472+2992C>G
c.1457C>G (n.1457C>G)
c.2580C>G (p.Gly860=)
c.2508C>G (p.Gly836=)
c.2454C>G (p.Gly818=)
c.2373C>G (p.Gly791=)
c.2316C>G (p.Gly772=)
c.402C>G (p.Gly134=)
n.2595C>G
c.-524C>G (n.-524C>G)
16g.2114497G>TCA493049744PKD1c.2526C>A (p.Gly842=)
c.472+2992C>A
c.1457C>A (n.1457C>A)
c.2580C>A (p.Gly860=)
c.2508C>A (p.Gly836=)
c.2454C>A (p.Gly818=)
c.2373C>A (p.Gly791=)
c.2316C>A (p.Gly772=)
c.402C>A (p.Gly134=)
n.2595C>A
c.-524C>A (n.-524C>A)
16g.2114498C>ACA394387602PKD1c.2525G>T (p.Gly842Val)
c.472+2991G>T
c.1456G>T (n.1456G>T)
c.2579G>T (p.Gly860Val)
c.2507G>T (p.Gly836Val)
c.2453G>T (p.Gly818Val)
c.2372G>T (p.Gly791Val)
c.2315G>T (p.Gly772Val)
c.401G>T (p.Gly134Val)
n.2594G>T
c.-525G>T (n.-525G>T)
16g.2114498C=CA2202049747PKD1c.2525G= (p.Gly842=)
c.472+2991G=
c.1456G= (n.1456G=)
c.2579G= (p.Gly860=)
c.2507G= (p.Gly836=)
c.2453G= (p.Gly818=)
c.2372G= (p.Gly791=)
c.2315G= (p.Gly772=)
c.401G= (p.Gly134=)
n.2594G=
c.-525G= (n.-525G=)
16g.2114498C>GCA394387603PKD1c.2525G>C (p.Gly842Ala)
c.472+2991G>C
c.1456G>C (n.1456G>C)
c.2579G>C (p.Gly860Ala)
c.2507G>C (p.Gly836Ala)
c.2453G>C (p.Gly818Ala)
c.2372G>C (p.Gly791Ala)
c.2315G>C (p.Gly772Ala)
c.401G>C (p.Gly134Ala)
n.2594G>C
c.-525G>C (n.-525G>C)
16g.2114498C>TCA7833179PKD1c.2525G>A (p.Gly842Asp)
c.472+2991G>A
c.1456G>A (n.1456G>A)
c.2579G>A (p.Gly860Asp)
c.2507G>A (p.Gly836Asp)
c.2453G>A (p.Gly818Asp)
c.2372G>A (p.Gly791Asp)
c.2315G>A (p.Gly772Asp)
c.401G>A (p.Gly134Asp)
n.2594G>A
c.-525G>A (n.-525G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2114499C>ACA394387606PKD1c.2524G>T (p.Gly842Cys)
c.472+2990G>T
c.1455G>T (n.1455G>T)
c.2578G>T (p.Gly860Cys)
c.2506G>T (p.Gly836Cys)
c.2452G>T (p.Gly818Cys)
c.2371G>T (p.Gly791Cys)
c.2314G>T (p.Gly772Cys)
c.400G>T (p.Gly134Cys)
n.2593G>T
c.-526G>T (n.-526G>T)
 gnomAD v4
16g.2114499C=CA2202049748PKD1c.2524G= (p.Gly842=)
c.472+2990G=
c.1455G= (n.1455G=)
c.2578G= (p.Gly860=)
c.2506G= (p.Gly836=)
c.2452G= (p.Gly818=)
c.2371G= (p.Gly791=)
c.2314G= (p.Gly772=)
c.400G= (p.Gly134=)
n.2593G=
c.-526G= (n.-526G=)
16g.2114499C>GCA394387607PKD1c.2524G>C (p.Gly842Arg)
c.472+2990G>C
c.1455G>C (n.1455G>C)
c.2578G>C (p.Gly860Arg)
c.2506G>C (p.Gly836Arg)
c.2452G>C (p.Gly818Arg)
c.2371G>C (p.Gly791Arg)
c.2314G>C (p.Gly772Arg)
c.400G>C (p.Gly134Arg)
n.2593G>C
c.-526G>C (n.-526G>C)
16g.2114499C>TCA7833180PKD1c.2524G>A (p.Gly842Ser)
c.472+2990G>A
c.1455G>A (n.1455G>A)
c.2578G>A (p.Gly860Ser)
c.2506G>A (p.Gly836Ser)
c.2452G>A (p.Gly818Ser)
c.2371G>A (p.Gly791Ser)
c.2314G>A (p.Gly772Ser)
c.400G>A (p.Gly134Ser)
n.2593G>A
c.-526G>A (n.-526G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114500delCA2575879041PKD1c.2523del (p.Asn841LysfsTer?)
c.472+2989del
c.1454del (n.1454del)
c.2577del (p.Asn859LysfsTer?)
c.2505del (p.Asn835LysfsTer?)
c.2451del (p.Asn817LysfsTer?)
c.2370del (p.Asn790LysfsTer?)
c.2313del (p.Asn771LysfsTer?)
c.399del (p.Asn133LysfsTer?)
n.2592del
c.-527del (n.-527del)
16g.2114500G>ACA7833181PKD1c.2523C>T (p.Asn841=)
c.472+2989C>T
c.1454C>T (n.1454C>T)
c.2577C>T (p.Asn859=)
c.2505C>T (p.Asn835=)
c.2451C>T (p.Asn817=)
c.2370C>T (p.Asn790=)
c.2313C>T (p.Asn771=)
c.399C>T (p.Asn133=)
n.2592C>T
c.-527C>T (n.-527C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114500G>CCA394387611PKD1c.2523C>G (p.Asn841Lys)
c.472+2989C>G
c.1454C>G (n.1454C>G)
c.2577C>G (p.Asn859Lys)
c.2505C>G (p.Asn835Lys)
c.2451C>G (p.Asn817Lys)
c.2370C>G (p.Asn790Lys)
c.2313C>G (p.Asn771Lys)
c.399C>G (p.Asn133Lys)
n.2592C>G
c.-527C>G (n.-527C>G)
16g.2114500G=CA2202049749PKD1c.2523C= (p.Asn841=)
c.472+2989C=
c.1454C= (n.1454C=)
c.2577C= (p.Asn859=)
c.2505C= (p.Asn835=)
c.2451C= (p.Asn817=)
c.2370C= (p.Asn790=)
c.2313C= (p.Asn771=)
c.399C= (p.Asn133=)
n.2592C=
c.-527C= (n.-527C=)
16g.2114500G>TCA394387609PKD1c.2523C>A (p.Asn841Lys)
c.472+2989C>A
c.1454C>A (n.1454C>A)
c.2577C>A (p.Asn859Lys)
c.2505C>A (p.Asn835Lys)
c.2451C>A (p.Asn817Lys)
c.2370C>A (p.Asn790Lys)
c.2313C>A (p.Asn771Lys)
c.399C>A (p.Asn133Lys)
n.2592C>A
c.-527C>A (n.-527C>A)
16g.2114501T>ACA394387614PKD1c.2522A>T (p.Asn841Ile)
c.472+2988A>T
c.1453A>T (n.1453A>T)
c.2576A>T (p.Asn859Ile)
c.2504A>T (p.Asn835Ile)
c.2450A>T (p.Asn817Ile)
c.2369A>T (p.Asn790Ile)
c.2312A>T (p.Asn771Ile)
c.398A>T (p.Asn133Ile)
n.2591A>T
c.-528A>T (n.-528A>T)
16g.2114501T>CCA7833182PKD1c.2522A>G (p.Asn841Ser)
c.472+2988A>G
c.1453A>G (n.1453A>G)
c.2576A>G (p.Asn859Ser)
c.2504A>G (p.Asn835Ser)
c.2450A>G (p.Asn817Ser)
c.2369A>G (p.Asn790Ser)
c.2312A>G (p.Asn771Ser)
c.398A>G (p.Asn133Ser)
n.2591A>G
c.-528A>G (n.-528A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2114501T>GCA394387615PKD1c.2522A>C (p.Asn841Thr)
c.472+2988A>C
c.1453A>C (n.1453A>C)
c.2576A>C (p.Asn859Thr)
c.2504A>C (p.Asn835Thr)
c.2450A>C (p.Asn817Thr)
c.2369A>C (p.Asn790Thr)
c.2312A>C (p.Asn771Thr)
c.398A>C (p.Asn133Thr)
n.2591A>C
c.-528A>C (n.-528A>C)
16g.2114501T=CA2202049750PKD1c.2522A= (p.Asn841=)
c.472+2988A=
c.1453A= (n.1453A=)
c.2576A= (p.Asn859=)
c.2504A= (p.Asn835=)
c.2450A= (p.Asn817=)
c.2369A= (p.Asn790=)
c.2312A= (p.Asn771=)
c.398A= (p.Asn133=)
n.2591A=
c.-528A= (n.-528A=)
16g.2114502T>ACA394387617PKD1c.2521A>T (p.Asn841Tyr)
c.472+2987A>T
c.1452A>T (n.1452A>T)
c.2575A>T (p.Asn859Tyr)
c.2503A>T (p.Asn835Tyr)
c.2449A>T (p.Asn817Tyr)
c.2368A>T (p.Asn790Tyr)
c.2311A>T (p.Asn771Tyr)
c.397A>T (p.Asn133Tyr)
n.2590A>T
c.-529A>T (n.-529A>T)
16g.2114502T>CCA394387618PKD1c.2521A>G (p.Asn841Asp)
c.472+2987A>G
c.1452A>G (n.1452A>G)
c.2575A>G (p.Asn859Asp)
c.2503A>G (p.Asn835Asp)
c.2449A>G (p.Asn817Asp)
c.2368A>G (p.Asn790Asp)
c.2311A>G (p.Asn771Asp)
c.397A>G (p.Asn133Asp)
n.2590A>G
c.-529A>G (n.-529A>G)
 gnomAD v4
16g.2114502T>GCA394387620PKD1c.2521A>C (p.Asn841His)
c.472+2987A>C
c.1452A>C (n.1452A>C)
c.2575A>C (p.Asn859His)
c.2503A>C (p.Asn835His)
c.2449A>C (p.Asn817His)
c.2368A>C (p.Asn790His)
c.2311A>C (p.Asn771His)
c.397A>C (p.Asn133His)
n.2590A>C
c.-529A>C (n.-529A>C)
16g.2114503G>ACA493049760PKD1c.2520C>T (p.Thr840=)
c.472+2986C>T
c.1451C>T (n.1451C>T)
c.2574C>T (p.Thr858=)
c.2502C>T (p.Thr834=)
c.2448C>T (p.Thr816=)
c.2367C>T (p.Thr789=)
c.2310C>T (p.Thr770=)
c.396C>T (p.Thr132=)
n.2589C>T
c.-530C>T (n.-530C>T)
16g.2114503G>CCA493049761PKD1c.2520C>G (p.Thr840=)
c.472+2986C>G
c.1451C>G (n.1451C>G)
c.2574C>G (p.Thr858=)
c.2502C>G (p.Thr834=)
c.2448C>G (p.Thr816=)
c.2367C>G (p.Thr789=)
c.2310C>G (p.Thr770=)
c.396C>G (p.Thr132=)
n.2589C>G
c.-530C>G (n.-530C>G)
16g.2114503G>TCA493049762PKD1c.2520C>A (p.Thr840=)
c.472+2986C>A
c.1451C>A (n.1451C>A)
c.2574C>A (p.Thr858=)
c.2502C>A (p.Thr834=)
c.2448C>A (p.Thr816=)
c.2367C>A (p.Thr789=)
c.2310C>A (p.Thr770=)
c.396C>A (p.Thr132=)
n.2589C>A
c.-530C>A (n.-530C>A)
16g.2114504G>ACA394387622PKD1c.2519C>T (p.Thr840Ile)
c.472+2985C>T
c.1450C>T (n.1450C>T)
c.2573C>T (p.Thr858Ile)
c.2501C>T (p.Thr834Ile)
c.2447C>T (p.Thr816Ile)
c.2366C>T (p.Thr789Ile)
c.2309C>T (p.Thr770Ile)
c.395C>T (p.Thr132Ile)
n.2588C>T
c.-531C>T (n.-531C>T)
16g.2114504G>CCA394387623PKD1c.2519C>G (p.Thr840Ser)
c.472+2985C>G
c.1450C>G (n.1450C>G)
c.2573C>G (p.Thr858Ser)
c.2501C>G (p.Thr834Ser)
c.2447C>G (p.Thr816Ser)
c.2366C>G (p.Thr789Ser)
c.2309C>G (p.Thr770Ser)
c.395C>G (p.Thr132Ser)
n.2588C>G
c.-531C>G (n.-531C>G)
16g.2114504G>TCA394387624PKD1c.2519C>A (p.Thr840Asn)
c.472+2985C>A
c.1450C>A (n.1450C>A)
c.2573C>A (p.Thr858Asn)
c.2501C>A (p.Thr834Asn)
c.2447C>A (p.Thr816Asn)
c.2366C>A (p.Thr789Asn)
c.2309C>A (p.Thr770Asn)
c.395C>A (p.Thr132Asn)
n.2588C>A
c.-531C>A (n.-531C>A)
16g.2114505T>ACA7833183PKD1c.2518A>T (p.Thr840Ser)
c.472+2984A>T
c.1449A>T (n.1449A>T)
c.2572A>T (p.Thr858Ser)
c.2500A>T (p.Thr834Ser)
c.2446A>T (p.Thr816Ser)
c.2365A>T (p.Thr789Ser)
c.2308A>T (p.Thr770Ser)
c.394A>T (p.Thr132Ser)
n.2587A>T
c.-532A>T (n.-532A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2114505T>CCA394387629PKD1c.2518A>G (p.Thr840Ala)
c.472+2984A>G
c.1449A>G (n.1449A>G)
c.2572A>G (p.Thr858Ala)
c.2500A>G (p.Thr834Ala)
c.2446A>G (p.Thr816Ala)
c.2365A>G (p.Thr789Ala)
c.2308A>G (p.Thr770Ala)
c.394A>G (p.Thr132Ala)
n.2587A>G
c.-532A>G (n.-532A>G)
 dbSNP gnomAD v3 gnomAD v4
16g.2114505T>GCA394387627PKD1c.2518A>C (p.Thr840Pro)
c.472+2984A>C
c.1449A>C (n.1449A>C)
c.2572A>C (p.Thr858Pro)
c.2500A>C (p.Thr834Pro)
c.2446A>C (p.Thr816Pro)
c.2365A>C (p.Thr789Pro)
c.2308A>C (p.Thr770Pro)
c.394A>C (p.Thr132Pro)
n.2587A>C
c.-532A>C (n.-532A>C)
16g.2114505T=CA2202049751PKD1c.2518A= (p.Thr840=)
c.472+2984A=
c.1449A= (n.1449A=)
c.2572A= (p.Thr858=)
c.2500A= (p.Thr834=)
c.2446A= (p.Thr816=)
c.2365A= (p.Thr789=)
c.2308A= (p.Thr770=)
c.394A= (p.Thr132=)
n.2587A=
c.-532A= (n.-532A=)
16g.2114506G>ACA493049769PKD1c.2517C>T (p.Pro839=)
c.472+2983C>T
c.1448C>T (n.1448C>T)
c.2571C>T (p.Pro857=)
c.2499C>T (p.Pro833=)
c.2445C>T (p.Pro815=)
c.2364C>T (p.Pro788=)
c.2307C>T (p.Pro769=)
c.393C>T (p.Pro131=)
n.2586C>T
c.-533C>T (n.-533C>T)
 gnomAD v4
16g.2114506G>CCA493049770PKD1c.2517C>G (p.Pro839=)
c.472+2983C>G
c.1448C>G (n.1448C>G)
c.2571C>G (p.Pro857=)
c.2499C>G (p.Pro833=)
c.2445C>G (p.Pro815=)
c.2364C>G (p.Pro788=)
c.2307C>G (p.Pro769=)
c.393C>G (p.Pro131=)
n.2586C>G
c.-533C>G (n.-533C>G)
16g.2114506G>TCA493049771PKD1c.2517C>A (p.Pro839=)
c.472+2983C>A
c.1448C>A (n.1448C>A)
c.2571C>A (p.Pro857=)
c.2499C>A (p.Pro833=)
c.2445C>A (p.Pro815=)
c.2364C>A (p.Pro788=)
c.2307C>A (p.Pro769=)
c.393C>A (p.Pro131=)
n.2586C>A
c.-533C>A (n.-533C>A)
 gnomAD v4
16g.2114507G>ACA394387631PKD1c.2516C>T (p.Pro839Leu)
c.472+2982C>T
c.1447C>T (n.1447C>T)
c.2570C>T (p.Pro857Leu)
c.2498C>T (p.Pro833Leu)
c.2444C>T (p.Pro815Leu)
c.2363C>T (p.Pro788Leu)
c.2306C>T (p.Pro769Leu)
c.392C>T (p.Pro131Leu)
n.2585C>T
c.-534C>T (n.-534C>T)
16g.2114507G>CCA394387632PKD1c.2516C>G (p.Pro839Arg)
c.472+2982C>G
c.1447C>G (n.1447C>G)
c.2570C>G (p.Pro857Arg)
c.2498C>G (p.Pro833Arg)
c.2444C>G (p.Pro815Arg)
c.2363C>G (p.Pro788Arg)
c.2306C>G (p.Pro769Arg)
c.392C>G (p.Pro131Arg)
n.2585C>G
c.-534C>G (n.-534C>G)
16g.2114507G>TCA394387634PKD1c.2516C>A (p.Pro839His)
c.472+2982C>A
c.1447C>A (n.1447C>A)
c.2570C>A (p.Pro857His)
c.2498C>A (p.Pro833His)
c.2444C>A (p.Pro815His)
c.2363C>A (p.Pro788His)
c.2306C>A (p.Pro769His)
c.392C>A (p.Pro131His)
n.2585C>A
c.-534C>A (n.-534C>A)
16g.2114508G>ACA7833184PKD1c.2515C>T (p.Pro839Ser)
c.472+2981C>T
c.1446C>T (n.1446C>T)
c.2569C>T (p.Pro857Ser)
c.2497C>T (p.Pro833Ser)
c.2443C>T (p.Pro815Ser)
c.2362C>T (p.Pro788Ser)
c.2305C>T (p.Pro769Ser)
c.391C>T (p.Pro131Ser)
n.2584C>T
c.-535C>T (n.-535C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114508G>CCA394387636PKD1c.2515C>G (p.Pro839Ala)
c.472+2981C>G
c.1446C>G (n.1446C>G)
c.2569C>G (p.Pro857Ala)
c.2497C>G (p.Pro833Ala)
c.2443C>G (p.Pro815Ala)
c.2362C>G (p.Pro788Ala)
c.2305C>G (p.Pro769Ala)
c.391C>G (p.Pro131Ala)
n.2584C>G
c.-535C>G (n.-535C>G)
 gnomAD v4
16g.2114508G=CA2202049752PKD1c.2515C= (p.Pro839=)
c.472+2981C=
c.1446C= (n.1446C=)
c.2569C= (p.Pro857=)
c.2497C= (p.Pro833=)
c.2443C= (p.Pro815=)
c.2362C= (p.Pro788=)
c.2305C= (p.Pro769=)
c.391C= (p.Pro131=)
n.2584C=
c.-535C= (n.-535C=)
16g.2114508G>TCA394387638PKD1c.2515C>A (p.Pro839Thr)
c.472+2981C>A
c.1446C>A (n.1446C>A)
c.2569C>A (p.Pro857Thr)
c.2497C>A (p.Pro833Thr)
c.2443C>A (p.Pro815Thr)
c.2362C>A (p.Pro788Thr)
c.2305C>A (p.Pro769Thr)
c.391C>A (p.Pro131Thr)
n.2584C>A
c.-535C>A (n.-535C>A)
16g.2114509C>ACA493049778PKD1c.2514G>T (p.Val838=)
c.472+2980G>T
c.1445G>T (n.1445G>T)
c.2568G>T (p.Val856=)
c.2496G>T (p.Val832=)
c.2442G>T (p.Val814=)
c.2361G>T (p.Val787=)
c.2304G>T (p.Val768=)
c.390G>T (p.Val130=)
n.2583G>T
c.-536G>T (n.-536G>T)
16g.2114509C=CA2202049753PKD1c.2514G= (p.Val838=)
c.472+2980G=
c.1445G= (n.1445G=)
c.2568G= (p.Val856=)
c.2496G= (p.Val832=)
c.2442G= (p.Val814=)
c.2361G= (p.Val787=)
c.2304G= (p.Val768=)
c.390G= (p.Val130=)
n.2583G=
c.-536G= (n.-536G=)
16g.2114509C>GCA493049779PKD1c.2514G>C (p.Val838=)
c.472+2980G>C
c.1445G>C (n.1445G>C)
c.2568G>C (p.Val856=)
c.2496G>C (p.Val832=)
c.2442G>C (p.Val814=)
c.2361G>C (p.Val787=)
c.2304G>C (p.Val768=)
c.390G>C (p.Val130=)
n.2583G>C
c.-536G>C (n.-536G>C)
16g.2114509C>TCA493049781PKD1c.2514G>A (p.Val838=)
c.472+2980G>A
c.1445G>A (n.1445G>A)
c.2568G>A (p.Val856=)
c.2496G>A (p.Val832=)
c.2442G>A (p.Val814=)
c.2361G>A (p.Val787=)
c.2304G>A (p.Val768=)
c.390G>A (p.Val130=)
n.2583G>A
c.-536G>A (n.-536G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2114510A>CCA394387641PKD1c.2513T>G (p.Val838Gly)
c.472+2979T>G
c.1444T>G (n.1444T>G)
c.2567T>G (p.Val856Gly)
c.2495T>G (p.Val832Gly)
c.2441T>G (p.Val814Gly)
c.2360T>G (p.Val787Gly)
c.2303T>G (p.Val768Gly)
c.389T>G (p.Val130Gly)
n.2582T>G
c.-537T>G (n.-537T>G)
16g.2114510A>GCA394387639PKD1c.2513T>C (p.Val838Ala)
c.472+2979T>C
c.1444T>C (n.1444T>C)
c.2567T>C (p.Val856Ala)
c.2495T>C (p.Val832Ala)
c.2441T>C (p.Val814Ala)
c.2360T>C (p.Val787Ala)
c.2303T>C (p.Val768Ala)
c.389T>C (p.Val130Ala)
n.2582T>C
c.-537T>C (n.-537T>C)
16g.2114510A>TCA394387640PKD1c.2513T>A (p.Val838Glu)
c.472+2979T>A
c.1444T>A (n.1444T>A)
c.2567T>A (p.Val856Glu)
c.2495T>A (p.Val832Glu)
c.2441T>A (p.Val814Glu)
c.2360T>A (p.Val787Glu)
c.2303T>A (p.Val768Glu)
c.389T>A (p.Val130Glu)
n.2582T>A
c.-537T>A (n.-537T>A)
16g.2114511C>ACA394387642PKD1c.2512G>T (p.Val838Leu)
c.472+2978G>T
c.1443G>T (n.1443G>T)
c.2566G>T (p.Val856Leu)
c.2494G>T (p.Val832Leu)
c.2440G>T (p.Val814Leu)
c.2359G>T (p.Val787Leu)
c.2302G>T (p.Val768Leu)
c.388G>T (p.Val130Leu)
n.2581G>T
c.-538G>T (n.-538G>T)
 dbSNP gnomAD v2 gnomAD v4
16g.2114511C=CA2202049754PKD1c.2512G= (p.Val838=)
c.472+2978G=
c.1443G= (n.1443G=)
c.2566G= (p.Val856=)
c.2494G= (p.Val832=)
c.2440G= (p.Val814=)
c.2359G= (p.Val787=)
c.2302G= (p.Val768=)
c.388G= (p.Val130=)
n.2581G=
c.-538G= (n.-538G=)
16g.2114511C>GCA394387643PKD1c.2512G>C (p.Val838Leu)
c.472+2978G>C
c.1443G>C (n.1443G>C)
c.2566G>C (p.Val856Leu)
c.2494G>C (p.Val832Leu)
c.2440G>C (p.Val814Leu)
c.2359G>C (p.Val787Leu)
c.2302G>C (p.Val768Leu)
c.388G>C (p.Val130Leu)
n.2581G>C
c.-538G>C (n.-538G>C)
 gnomAD v4
16g.2114511C>TCA7833185PKD1c.2512G>A (p.Val838Met)
c.472+2978G>A
c.1443G>A (n.1443G>A)
c.2566G>A (p.Val856Met)
c.2494G>A (p.Val832Met)
c.2440G>A (p.Val814Met)
c.2359G>A (p.Val787Met)
c.2302G>A (p.Val768Met)
c.388G>A (p.Val130Met)
n.2581G>A
c.-538G>A (n.-538G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114512G>ACA7833186PKD1c.2511C>T (p.Tyr837=)
c.472+2977C>T
c.1442C>T (n.1442C>T)
c.2565C>T (p.Tyr855=)
c.2493C>T (p.Tyr831=)
c.2439C>T (p.Tyr813=)
c.2358C>T (p.Tyr786=)
c.2301C>T (p.Tyr767=)
c.387C>T (p.Tyr129=)
n.2580C>T
c.-539C>T (n.-539C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114512G>CCA394387646PKD1c.2511C>G (p.Tyr837Ter)
c.472+2977C>G
c.1442C>G (n.1442C>G)
c.2565C>G (p.Tyr855Ter)
c.2493C>G (p.Tyr831Ter)
c.2439C>G (p.Tyr813Ter)
c.2358C>G (p.Tyr786Ter)
c.2301C>G (p.Tyr767Ter)
c.387C>G (p.Tyr129Ter)
n.2580C>G
c.-539C>G (n.-539C>G)
16g.2114512G=CA2202049755PKD1c.2511C= (p.Tyr837=)
c.472+2977C=
c.1442C= (n.1442C=)
c.2565C= (p.Tyr855=)
c.2493C= (p.Tyr831=)
c.2439C= (p.Tyr813=)
c.2358C= (p.Tyr786=)
c.2301C= (p.Tyr767=)
c.387C= (p.Tyr129=)
n.2580C=
c.-539C= (n.-539C=)
16g.2114512G>TCA394387647PKD1c.2511C>A (p.Tyr837Ter)
c.472+2977C>A
c.1442C>A (n.1442C>A)
c.2565C>A (p.Tyr855Ter)
c.2493C>A (p.Tyr831Ter)
c.2439C>A (p.Tyr813Ter)
c.2358C>A (p.Tyr786Ter)
c.2301C>A (p.Tyr767Ter)
c.387C>A (p.Tyr129Ter)
n.2580C>A
c.-539C>A (n.-539C>A)
16g.2114513T>ACA394387649PKD1c.2510A>T (p.Tyr837Phe)
c.472+2976A>T
c.1441A>T (n.1441A>T)
c.2564A>T (p.Tyr855Phe)
c.2492A>T (p.Tyr831Phe)
c.2438A>T (p.Tyr813Phe)
c.2357A>T (p.Tyr786Phe)
c.2300A>T (p.Tyr767Phe)
c.386A>T (p.Tyr129Phe)
n.2579A>T
c.-540A>T (n.-540A>T)
16g.2114513T>CCA394387650PKD1c.2510A>G (p.Tyr837Cys)
c.472+2976A>G
c.1441A>G (n.1441A>G)
c.2564A>G (p.Tyr855Cys)
c.2492A>G (p.Tyr831Cys)
c.2438A>G (p.Tyr813Cys)
c.2357A>G (p.Tyr786Cys)
c.2300A>G (p.Tyr767Cys)
c.386A>G (p.Tyr129Cys)
n.2579A>G
c.-540A>G (n.-540A>G)
16g.2114513T>GCA394387651PKD1c.2510A>C (p.Tyr837Ser)
c.472+2976A>C
c.1441A>C (n.1441A>C)
c.2564A>C (p.Tyr855Ser)
c.2492A>C (p.Tyr831Ser)
c.2438A>C (p.Tyr813Ser)
c.2357A>C (p.Tyr786Ser)
c.2300A>C (p.Tyr767Ser)
c.386A>C (p.Tyr129Ser)
n.2579A>C
c.-540A>C (n.-540A>C)
 gnomAD v4
16g.2114514A>CCA394387652PKD1c.2509T>G (p.Tyr837Asp)
c.472+2975T>G
c.1440T>G (n.1440T>G)
c.2563T>G (p.Tyr855Asp)
c.2491T>G (p.Tyr831Asp)
c.2437T>G (p.Tyr813Asp)
c.2356T>G (p.Tyr786Asp)
c.2299T>G (p.Tyr767Asp)
c.385T>G (p.Tyr129Asp)
n.2578T>G
c.-541T>G (n.-541T>G)
16g.2114514A>GCA394387653PKD1c.2509T>C (p.Tyr837His)
c.472+2975T>C
c.1440T>C (n.1440T>C)
c.2563T>C (p.Tyr855His)
c.2491T>C (p.Tyr831His)
c.2437T>C (p.Tyr813His)
c.2356T>C (p.Tyr786His)
c.2299T>C (p.Tyr767His)
c.385T>C (p.Tyr129His)
n.2578T>C
c.-541T>C (n.-541T>C)
 gnomAD v4
16g.2114514A>TCA394387655PKD1c.2509T>A (p.Tyr837Asn)
c.472+2975T>A
c.1440T>A (n.1440T>A)
c.2563T>A (p.Tyr855Asn)
c.2491T>A (p.Tyr831Asn)
c.2437T>A (p.Tyr813Asn)
c.2356T>A (p.Tyr786Asn)
c.2299T>A (p.Tyr767Asn)
c.385T>A (p.Tyr129Asn)
n.2578T>A
c.-541T>A (n.-541T>A)
16g.2114515G>ACA7833187PKD1c.2508C>T (p.Leu836=)
c.472+2974C>T
c.1439C>T (n.1439C>T)
c.2562C>T (p.Leu854=)
c.2490C>T (p.Leu830=)
c.2436C>T (p.Leu812=)
c.2355C>T (p.Leu785=)
c.2298C>T (p.Leu766=)
c.384C>T (p.Leu128=)
n.2577C>T
c.-542C>T (n.-542C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114515G>CCA493049791PKD1c.2508C>G (p.Leu836=)
c.472+2974C>G
c.1439C>G (n.1439C>G)
c.2562C>G (p.Leu854=)
c.2490C>G (p.Leu830=)
c.2436C>G (p.Leu812=)
c.2355C>G (p.Leu785=)
c.2298C>G (p.Leu766=)
c.384C>G (p.Leu128=)
n.2577C>G
c.-542C>G (n.-542C>G)
 dbSNP gnomAD v3 gnomAD v4
16g.2114515G=CA2202049756PKD1c.2508C= (p.Leu836=)
c.472+2974C=
c.1439C= (n.1439C=)
c.2562C= (p.Leu854=)
c.2490C= (p.Leu830=)
c.2436C= (p.Leu812=)
c.2355C= (p.Leu785=)
c.2298C= (p.Leu766=)
c.384C= (p.Leu128=)
n.2577C=
c.-542C= (n.-542C=)
16g.2114515G>TCA493049793PKD1c.2508C>A (p.Leu836=)
c.472+2974C>A
c.1439C>A (n.1439C>A)
c.2562C>A (p.Leu854=)
c.2490C>A (p.Leu830=)
c.2436C>A (p.Leu812=)
c.2355C>A (p.Leu785=)
c.2298C>A (p.Leu766=)
c.384C>A (p.Leu128=)
n.2577C>A
c.-542C>A (n.-542C>A)
16g.2114516A>CCA394387658PKD1c.2507T>G (p.Leu836Arg)
c.472+2973T>G
c.1438T>G (n.1438T>G)
c.2561T>G (p.Leu854Arg)
c.2489T>G (p.Leu830Arg)
c.2435T>G (p.Leu812Arg)
c.2354T>G (p.Leu785Arg)
c.2297T>G (p.Leu766Arg)
c.383T>G (p.Leu128Arg)
n.2576T>G
c.-543T>G (n.-543T>G)
16g.2114516A>GCA394387660PKD1c.2507T>C (p.Leu836Pro)
c.472+2973T>C
c.1438T>C (n.1438T>C)
c.2561T>C (p.Leu854Pro)
c.2489T>C (p.Leu830Pro)
c.2435T>C (p.Leu812Pro)
c.2354T>C (p.Leu785Pro)
c.2297T>C (p.Leu766Pro)
c.383T>C (p.Leu128Pro)
n.2576T>C
c.-543T>C (n.-543T>C)
16g.2114516A>TCA394387659PKD1c.2507T>A (p.Leu836His)
c.472+2973T>A
c.1438T>A (n.1438T>A)
c.2561T>A (p.Leu854His)
c.2489T>A (p.Leu830His)
c.2435T>A (p.Leu812His)
c.2354T>A (p.Leu785His)
c.2297T>A (p.Leu766His)
c.383T>A (p.Leu128His)
n.2576T>A
c.-543T>A (n.-543T>A)
16g.2114517G>ACA394387662PKD1c.2506C>T (p.Leu836Phe)
c.472+2972C>T
c.1437C>T (n.1437C>T)
c.2560C>T (p.Leu854Phe)
c.2488C>T (p.Leu830Phe)
c.2434C>T (p.Leu812Phe)
c.2353C>T (p.Leu785Phe)
c.2296C>T (p.Leu766Phe)
c.382C>T (p.Leu128Phe)
n.2575C>T
c.-544C>T (n.-544C>T)
 dbSNP gnomAD v3 gnomAD v4
16g.2114517G>CCA394387664PKD1c.2506C>G (p.Leu836Val)
c.472+2972C>G
c.1437C>G (n.1437C>G)
c.2560C>G (p.Leu854Val)
c.2488C>G (p.Leu830Val)
c.2434C>G (p.Leu812Val)
c.2353C>G (p.Leu785Val)
c.2296C>G (p.Leu766Val)
c.382C>G (p.Leu128Val)
n.2575C>G
c.-544C>G (n.-544C>G)
 gnomAD v4
16g.2114517G=CA2202049757PKD1c.2506C= (p.Leu836=)
c.472+2972C=
c.1437C= (n.1437C=)
c.2560C= (p.Leu854=)
c.2488C= (p.Leu830=)
c.2434C= (p.Leu812=)
c.2353C= (p.Leu785=)
c.2296C= (p.Leu766=)
c.382C= (p.Leu128=)
n.2575C=
c.-544C= (n.-544C=)
16g.2114517G>TCA394387666PKD1c.2506C>A (p.Leu836Ile)
c.472+2972C>A
c.1437C>A (n.1437C>A)
c.2560C>A (p.Leu854Ile)
c.2488C>A (p.Leu830Ile)
c.2434C>A (p.Leu812Ile)
c.2353C>A (p.Leu785Ile)
c.2296C>A (p.Leu766Ile)
c.382C>A (p.Leu128Ile)
n.2575C>A
c.-544C>A (n.-544C>A)
16g.2114518G>ACA493049803PKD1c.2505C>T (p.Arg835=)
c.472+2971C>T
c.1436C>T (n.1436C>T)
c.2559C>T (p.Arg853=)
c.2487C>T (p.Arg829=)
c.2433C>T (p.Arg811=)
c.2352C>T (p.Arg784=)
c.2295C>T (p.Arg765=)
c.381C>T (p.Arg127=)
n.2574C>T
c.-545C>T (n.-545C>T)
 gnomAD v4
16g.2114518G>CCA493049801PKD1c.2505C>G (p.Arg835=)
c.472+2971C>G
c.1436C>G (n.1436C>G)
c.2559C>G (p.Arg853=)
c.2487C>G (p.Arg829=)
c.2433C>G (p.Arg811=)
c.2352C>G (p.Arg784=)
c.2295C>G (p.Arg765=)
c.381C>G (p.Arg127=)
n.2574C>G
c.-545C>G (n.-545C>G)
16g.2114518G>TCA493049799PKD1c.2505C>A (p.Arg835=)
c.472+2971C>A
c.1436C>A (n.1436C>A)
c.2559C>A (p.Arg853=)
c.2487C>A (p.Arg829=)
c.2433C>A (p.Arg811=)
c.2352C>A (p.Arg784=)
c.2295C>A (p.Arg765=)
c.381C>A (p.Arg127=)
n.2574C>A
c.-545C>A (n.-545C>A)
16g.2114519C>ACA394387667PKD1c.2504G>T (p.Arg835Leu)
c.472+2970G>T
c.1435G>T (n.1435G>T)
c.2558G>T (p.Arg853Leu)
c.2486G>T (p.Arg829Leu)
c.2432G>T (p.Arg811Leu)
c.2351G>T (p.Arg784Leu)
c.2294G>T (p.Arg765Leu)
c.380G>T (p.Arg127Leu)
n.2573G>T
c.-546G>T (n.-546G>T)
16g.2114519C=CA2202049758PKD1c.2504G= (p.Arg835=)
c.472+2970G=
c.1435G= (n.1435G=)
c.2558G= (p.Arg853=)
c.2486G= (p.Arg829=)
c.2432G= (p.Arg811=)
c.2351G= (p.Arg784=)
c.2294G= (p.Arg765=)
c.380G= (p.Arg127=)
n.2573G=
c.-546G= (n.-546G=)
16g.2114519C>GCA394387669PKD1c.2504G>C (p.Arg835Pro)
c.472+2970G>C
c.1435G>C (n.1435G>C)
c.2558G>C (p.Arg853Pro)
c.2486G>C (p.Arg829Pro)
c.2432G>C (p.Arg811Pro)
c.2351G>C (p.Arg784Pro)
c.2294G>C (p.Arg765Pro)
c.380G>C (p.Arg127Pro)
n.2573G>C
c.-546G>C (n.-546G>C)
16g.2114519C>TCA7833188PKD1c.2504G>A (p.Arg835His)
c.472+2970G>A
c.1435G>A (n.1435G>A)
c.2558G>A (p.Arg853His)
c.2486G>A (p.Arg829His)
c.2432G>A (p.Arg811His)
c.2351G>A (p.Arg784His)
c.2294G>A (p.Arg765His)
c.380G>A (p.Arg127His)
n.2573G>A
c.-546G>A (n.-546G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114520G>ACA7833189PKD1c.2503C>T (p.Arg835Cys)
c.472+2969C>T
c.1434C>T (n.1434C>T)
c.2557C>T (p.Arg853Cys)
c.2485C>T (p.Arg829Cys)
c.2431C>T (p.Arg811Cys)
c.2350C>T (p.Arg784Cys)
c.2293C>T (p.Arg765Cys)
c.379C>T (p.Arg127Cys)
n.2572C>T
c.-547C>T (n.-547C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2114520G>CCA394387671PKD1c.2503C>G (p.Arg835Gly)
c.472+2969C>G
c.1434C>G (n.1434C>G)
c.2557C>G (p.Arg853Gly)
c.2485C>G (p.Arg829Gly)
c.2431C>G (p.Arg811Gly)
c.2350C>G (p.Arg784Gly)
c.2293C>G (p.Arg765Gly)
c.379C>G (p.Arg127Gly)
n.2572C>G
c.-547C>G (n.-547C>G)
16g.2114520G=CA2202049759PKD1c.2503C= (p.Arg835=)
c.472+2969C=
c.1434C= (n.1434C=)
c.2557C= (p.Arg853=)
c.2485C= (p.Arg829=)
c.2431C= (p.Arg811=)
c.2350C= (p.Arg784=)
c.2293C= (p.Arg765=)
c.379C= (p.Arg127=)
n.2572C=
c.-547C= (n.-547C=)
16g.2114520G>TCA394387672PKD1c.2503C>A (p.Arg835Ser)
c.472+2969C>A
c.1434C>A (n.1434C>A)
c.2557C>A (p.Arg853Ser)
c.2485C>A (p.Arg829Ser)
c.2431C>A (p.Arg811Ser)
c.2350C>A (p.Arg784Ser)
c.2293C>A (p.Arg765Ser)
c.379C>A (p.Arg127Ser)
n.2572C>A
c.-547C>A (n.-547C>A)
 gnomAD v4
16g.2114521G>ACA7833190PKD1c.2502C>T (p.Gly834=)
c.472+2968C>T
c.1433C>T (n.1433C>T)
c.2556C>T (p.Gly852=)
c.2484C>T (p.Gly828=)
c.2430C>T (p.Gly810=)
c.2349C>T (p.Gly783=)
c.2292C>T (p.Gly764=)
c.378C>T (p.Gly126=)
n.2571C>T
c.-548C>T (n.-548C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114521G>CCA493049815PKD1c.2502C>G (p.Gly834=)
c.472+2968C>G
c.1433C>G (n.1433C>G)
c.2556C>G (p.Gly852=)
c.2484C>G (p.Gly828=)
c.2430C>G (p.Gly810=)
c.2349C>G (p.Gly783=)
c.2292C>G (p.Gly764=)
c.378C>G (p.Gly126=)
n.2571C>G
c.-548C>G (n.-548C>G)
16g.2114521G=CA2202049760PKD1c.2502C= (p.Gly834=)
c.472+2968C=
c.1433C= (n.1433C=)
c.2556C= (p.Gly852=)
c.2484C= (p.Gly828=)
c.2430C= (p.Gly810=)
c.2349C= (p.Gly783=)
c.2292C= (p.Gly764=)
c.378C= (p.Gly126=)
n.2571C=
c.-548C= (n.-548C=)
16g.2114521G>TCA493049814PKD1c.2502C>A (p.Gly834=)
c.472+2968C>A
c.1433C>A (n.1433C>A)
c.2556C>A (p.Gly852=)
c.2484C>A (p.Gly828=)
c.2430C>A (p.Gly810=)
c.2349C>A (p.Gly783=)
c.2292C>A (p.Gly764=)
c.378C>A (p.Gly126=)
n.2571C>A
c.-548C>A (n.-548C>A)
 dbSNP gnomAD v4
16g.2114522C>ACA394387674PKD1c.2501G>T (p.Gly834Val)
c.472+2967G>T
c.1432G>T (n.1432G>T)
c.2555G>T (p.Gly852Val)
c.2483G>T (p.Gly828Val)
c.2429G>T (p.Gly810Val)
c.2348G>T (p.Gly783Val)
c.2291G>T (p.Gly764Val)
c.377G>T (p.Gly126Val)
n.2570G>T
c.-549G>T (n.-549G>T)
16g.2114522C>GCA394387676PKD1c.2501G>C (p.Gly834Ala)
c.472+2967G>C
c.1432G>C (n.1432G>C)
c.2555G>C (p.Gly852Ala)
c.2483G>C (p.Gly828Ala)
c.2429G>C (p.Gly810Ala)
c.2348G>C (p.Gly783Ala)
c.2291G>C (p.Gly764Ala)
c.377G>C (p.Gly126Ala)
n.2570G>C
c.-549G>C (n.-549G>C)
 dbSNP
16g.2114522C>TCA394387677PKD1c.2501G>A (p.Gly834Asp)
c.472+2967G>A
c.1432G>A (n.1432G>A)
c.2555G>A (p.Gly852Asp)
c.2483G>A (p.Gly828Asp)
c.2429G>A (p.Gly810Asp)
c.2348G>A (p.Gly783Asp)
c.2291G>A (p.Gly764Asp)
c.377G>A (p.Gly126Asp)
n.2570G>A
c.-549G>A (n.-549G>A)
 gnomAD v4
16g.2114523C>ACA394387681PKD1c.2500G>T (p.Gly834Cys)
c.472+2966G>T
c.1431G>T (n.1431G>T)
c.2554G>T (p.Gly852Cys)
c.2482G>T (p.Gly828Cys)
c.2428G>T (p.Gly810Cys)
c.2347G>T (p.Gly783Cys)
c.2290G>T (p.Gly764Cys)
c.376G>T (p.Gly126Cys)
n.2569G>T
c.-550G>T (n.-550G>T)
16g.2114523C=CA2202049761PKD1c.2500G= (p.Gly834=)
c.472+2966G=
c.1431G= (n.1431G=)
c.2554G= (p.Gly852=)
c.2482G= (p.Gly828=)
c.2428G= (p.Gly810=)
c.2347G= (p.Gly783=)
c.2290G= (p.Gly764=)
c.376G= (p.Gly126=)
n.2569G=
c.-550G= (n.-550G=)
16g.2114523C>GCA394387679PKD1c.2500G>C (p.Gly834Arg)
c.472+2966G>C
c.1431G>C (n.1431G>C)
c.2554G>C (p.Gly852Arg)
c.2482G>C (p.Gly828Arg)
c.2428G>C (p.Gly810Arg)
c.2347G>C (p.Gly783Arg)
c.2290G>C (p.Gly764Arg)
c.376G>C (p.Gly126Arg)
n.2569G>C
c.-550G>C (n.-550G>C)
16g.2114523C>TCA7833191PKD1c.2500G>A (p.Gly834Ser)
c.472+2966G>A
c.1431G>A (n.1431G>A)
c.2554G>A (p.Gly852Ser)
c.2482G>A (p.Gly828Ser)
c.2428G>A (p.Gly810Ser)
c.2347G>A (p.Gly783Ser)
c.2290G>A (p.Gly764Ser)
c.376G>A (p.Gly126Ser)
n.2569G>A
c.-550G>A (n.-550G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114524G>ACA7833192PKD1c.2499C>T (p.Asp833=)
c.472+2965C>T
c.1430C>T (n.1430C>T)
c.2553C>T (p.Asp851=)
c.2481C>T (p.Asp827=)
c.2427C>T (p.Asp809=)
c.2346C>T (p.Asp782=)
c.2289C>T (p.Asp763=)
c.375C>T (p.Asp125=)
n.2568C>T
c.-551C>T (n.-551C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114524G>CCA394387683PKD1c.2499C>G (p.Asp833Glu)
c.472+2965C>G
c.1430C>G (n.1430C>G)
c.2553C>G (p.Asp851Glu)
c.2481C>G (p.Asp827Glu)
c.2427C>G (p.Asp809Glu)
c.2346C>G (p.Asp782Glu)
c.2289C>G (p.Asp763Glu)
c.375C>G (p.Asp125Glu)
n.2568C>G
c.-551C>G (n.-551C>G)
16g.2114524G=CA2202049762PKD1c.2499C= (p.Asp833=)
c.472+2965C=
c.1430C= (n.1430C=)
c.2553C= (p.Asp851=)
c.2481C= (p.Asp827=)
c.2427C= (p.Asp809=)
c.2346C= (p.Asp782=)
c.2289C= (p.Asp763=)
c.375C= (p.Asp125=)
n.2568C=
c.-551C= (n.-551C=)
16g.2114524G>TCA394387684PKD1c.2499C>A (p.Asp833Glu)
c.472+2965C>A
c.1430C>A (n.1430C>A)
c.2553C>A (p.Asp851Glu)
c.2481C>A (p.Asp827Glu)
c.2427C>A (p.Asp809Glu)
c.2346C>A (p.Asp782Glu)
c.2289C>A (p.Asp763Glu)
c.375C>A (p.Asp125Glu)
n.2568C>A
c.-551C>A (n.-551C>A)
 gnomAD v4
16g.2114525T>ACA394387686PKD1c.2498A>T (p.Asp833Val)
c.472+2964A>T
c.1429A>T (n.1429A>T)
c.2552A>T (p.Asp851Val)
c.2480A>T (p.Asp827Val)
c.2426A>T (p.Asp809Val)
c.2345A>T (p.Asp782Val)
c.2288A>T (p.Asp763Val)
c.374A>T (p.Asp125Val)
n.2567A>T
c.-552A>T (n.-552A>T)
16g.2114525T>CCA394387687PKD1c.2498A>G (p.Asp833Gly)
c.472+2964A>G
c.1429A>G (n.1429A>G)
c.2552A>G (p.Asp851Gly)
c.2480A>G (p.Asp827Gly)
c.2426A>G (p.Asp809Gly)
c.2345A>G (p.Asp782Gly)
c.2288A>G (p.Asp763Gly)
c.374A>G (p.Asp125Gly)
n.2567A>G
c.-552A>G (n.-552A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2114525T>GCA394387689PKD1c.2498A>C (p.Asp833Ala)
c.472+2964A>C
c.1429A>C (n.1429A>C)
c.2552A>C (p.Asp851Ala)
c.2480A>C (p.Asp827Ala)
c.2426A>C (p.Asp809Ala)
c.2345A>C (p.Asp782Ala)
c.2288A>C (p.Asp763Ala)
c.374A>C (p.Asp125Ala)
n.2567A>C
c.-552A>C (n.-552A>C)
16g.2114525T=CA2202049763PKD1c.2498A= (p.Asp833=)
c.472+2964A=
c.1429A= (n.1429A=)
c.2552A= (p.Asp851=)
c.2480A= (p.Asp827=)
c.2426A= (p.Asp809=)
c.2345A= (p.Asp782=)
c.2288A= (p.Asp763=)
c.374A= (p.Asp125=)
n.2567A=
c.-552A= (n.-552A=)
16g.2114526C>ACA394387690PKD1c.2497G>T (p.Asp833Tyr)
c.472+2963G>T
c.1428G>T (n.1428G>T)
c.2551G>T (p.Asp851Tyr)
c.2479G>T (p.Asp827Tyr)
c.2425G>T (p.Asp809Tyr)
c.2344G>T (p.Asp782Tyr)
c.2287G>T (p.Asp763Tyr)
c.373G>T (p.Asp125Tyr)
n.2566G>T
c.-553G>T (n.-553G>T)
 gnomAD v4
16g.2114526C=CA2202049764PKD1c.2497G= (p.Asp833=)
c.472+2963G=
c.1428G= (n.1428G=)
c.2551G= (p.Asp851=)
c.2479G= (p.Asp827=)
c.2425G= (p.Asp809=)
c.2344G= (p.Asp782=)
c.2287G= (p.Asp763=)
c.373G= (p.Asp125=)
n.2566G=
c.-553G= (n.-553G=)
16g.2114526C>GCA394387691PKD1c.2497G>C (p.Asp833His)
c.472+2963G>C
c.1428G>C (n.1428G>C)
c.2551G>C (p.Asp851His)
c.2479G>C (p.Asp827His)
c.2425G>C (p.Asp809His)
c.2344G>C (p.Asp782His)
c.2287G>C (p.Asp763His)
c.373G>C (p.Asp125His)
n.2566G>C
c.-553G>C (n.-553G>C)
16g.2114526C>TCA7833193PKD1c.2497G>A (p.Asp833Asn)
c.472+2963G>A
c.1428G>A (n.1428G>A)
c.2551G>A (p.Asp851Asn)
c.2479G>A (p.Asp827Asn)
c.2425G>A (p.Asp809Asn)
c.2344G>A (p.Asp782Asn)
c.2287G>A (p.Asp763Asn)
c.373G>A (p.Asp125Asn)
n.2566G>A
c.-553G>A (n.-553G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2114527G>ACA7833194PKD1c.2496C>T (p.Arg832=)
c.472+2962C>T
c.1427C>T (n.1427C>T)
c.2550C>T (p.Arg850=)
c.2478C>T (p.Arg826=)
c.2424C>T (p.Arg808=)
c.2343C>T (p.Arg781=)
c.2286C>T (p.Arg762=)
c.372C>T (p.Arg124=)
n.2565C>T
c.-554C>T (n.-554C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114527G>CCA493049825PKD1c.2496C>G (p.Arg832=)
c.472+2962C>G
c.1427C>G (n.1427C>G)
c.2550C>G (p.Arg850=)
c.2478C>G (p.Arg826=)
c.2424C>G (p.Arg808=)
c.2343C>G (p.Arg781=)
c.2286C>G (p.Arg762=)
c.372C>G (p.Arg124=)
n.2565C>G
c.-554C>G (n.-554C>G)
16g.2114527G=CA2202049765PKD1c.2496C= (p.Arg832=)
c.472+2962C=
c.1427C= (n.1427C=)
c.2550C= (p.Arg850=)
c.2478C= (p.Arg826=)
c.2424C= (p.Arg808=)
c.2343C= (p.Arg781=)
c.2286C= (p.Arg762=)
c.372C= (p.Arg124=)
n.2565C=
c.-554C= (n.-554C=)
16g.2114527G>TCA7833195PKD1c.2496C>A (p.Arg832=)
c.472+2962C>A
c.1427C>A (n.1427C>A)
c.2550C>A (p.Arg850=)
c.2478C>A (p.Arg826=)
c.2424C>A (p.Arg808=)
c.2343C>A (p.Arg781=)
c.2286C>A (p.Arg762=)
c.372C>A (p.Arg124=)
n.2565C>A
c.-554C>A (n.-554C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2114528C>ACA394387695PKD1c.2495G>T (p.Arg832Leu)
c.472+2961G>T
c.1426G>T (n.1426G>T)
c.2549G>T (p.Arg850Leu)
c.2477G>T (p.Arg826Leu)
c.2423G>T (p.Arg808Leu)
c.2342G>T (p.Arg781Leu)
c.2285G>T (p.Arg762Leu)
c.371G>T (p.Arg124Leu)
n.2564G>T
c.-555G>T (n.-555G>T)
16g.2114528C=CA2202049766PKD1c.2495G= (p.Arg832=)
c.472+2961G=
c.1426G= (n.1426G=)
c.2549G= (p.Arg850=)
c.2477G= (p.Arg826=)
c.2423G= (p.Arg808=)
c.2342G= (p.Arg781=)
c.2285G= (p.Arg762=)
c.371G= (p.Arg124=)
n.2564G=
c.-555G= (n.-555G=)
16g.2114528C>GCA394387697PKD1c.2495G>C (p.Arg832Pro)
c.472+2961G>C
c.1426G>C (n.1426G>C)
c.2549G>C (p.Arg850Pro)
c.2477G>C (p.Arg826Pro)
c.2423G>C (p.Arg808Pro)
c.2342G>C (p.Arg781Pro)
c.2285G>C (p.Arg762Pro)
c.371G>C (p.Arg124Pro)
n.2564G>C
c.-555G>C (n.-555G>C)
16g.2114528C>TCA7833196PKD1c.2495G>A (p.Arg832His)
c.472+2961G>A
c.1426G>A (n.1426G>A)
c.2549G>A (p.Arg850His)
c.2477G>A (p.Arg826His)
c.2423G>A (p.Arg808His)
c.2342G>A (p.Arg781His)
c.2285G>A (p.Arg762His)
c.371G>A (p.Arg124His)
n.2564G>A
c.-555G>A (n.-555G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114528_2114529delinsCGCA2202049767PKD1c.2494_2495delinsCG (p.Arg832=)
c.472+2960_472+2961delinsCG
c.1425_1426delinsCG (n.1425_1426delinsCG)
c.2548_2549delinsCG (p.Arg850=)
c.2476_2477delinsCG (p.Arg826=)
c.2422_2423delinsCG (p.Arg808=)
c.2341_2342delinsCG (p.Arg781=)
c.2284_2285delinsCG (p.Arg762=)
c.370_371delinsCG (p.Arg124=)
n.2563_2564delinsCG
c.-556_-555delinsCG (n.-556_-555delinsCG)
16g.2114529G>ACA7833197PKD1c.2494C>T (p.Arg832Cys)
c.472+2960C>T
c.1425C>T (n.1425C>T)
c.2548C>T (p.Arg850Cys)
c.2476C>T (p.Arg826Cys)
c.2422C>T (p.Arg808Cys)
c.2341C>T (p.Arg781Cys)
c.2284C>T (p.Arg762Cys)
c.370C>T (p.Arg124Cys)
n.2563C>T
c.-556C>T (n.-556C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114529G>CCA7833199PKD1c.2494C>G (p.Arg832Gly)
c.472+2960C>G
c.1425C>G (n.1425C>G)
c.2548C>G (p.Arg850Gly)
c.2476C>G (p.Arg826Gly)
c.2422C>G (p.Arg808Gly)
c.2341C>G (p.Arg781Gly)
c.2284C>G (p.Arg762Gly)
c.370C>G (p.Arg124Gly)
n.2563C>G
c.-556C>G (n.-556C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114529G=CA2202049768PKD1c.2494C= (p.Arg832=)
c.472+2960C=
c.1425C= (n.1425C=)
c.2548C= (p.Arg850=)
c.2476C= (p.Arg826=)
c.2422C= (p.Arg808=)
c.2341C= (p.Arg781=)
c.2284C= (p.Arg762=)
c.370C= (p.Arg124=)
n.2563C=
c.-556C= (n.-556C=)
16g.2114529G>TCA7833198PKD1c.2494C>A (p.Arg832Ser)
c.472+2960C>A
c.1425C>A (n.1425C>A)
c.2548C>A (p.Arg850Ser)
c.2476C>A (p.Arg826Ser)
c.2422C>A (p.Arg808Ser)
c.2341C>A (p.Arg781Ser)
c.2284C>A (p.Arg762Ser)
c.370C>A (p.Arg124Ser)
n.2563C>A
c.-556C>A (n.-556C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2114534dupCA620705845PKD1c.2494dup (p.Arg832ProfsTer?)
c.472+2960dup
c.1425dup (n.1425dup)
c.2548dup (p.Arg850ProfsTer?)
c.2476dup (p.Arg826ProfsTer?)
c.2422dup (p.Arg808ProfsTer?)
c.2341dup (p.Arg781ProfsTer?)
c.2284dup (p.Arg762ProfsTer?)
c.370dup (p.Arg124ProfsTer?)
n.2563dup
c.-556dup (n.-556dup)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2114534delCA645597004PKD1c.2494del (p.Arg832AlafsTer?)
c.472+2960del
c.1425del (n.1425del)
c.2548del (p.Arg850AlafsTer?)
c.2476del (p.Arg826AlafsTer?)
c.2422del (p.Arg808AlafsTer?)
c.2341del (p.Arg781AlafsTer?)
c.2284del (p.Arg762AlafsTer?)
c.370del (p.Arg124AlafsTer?)
n.2563del
c.-556del (n.-556del)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.2114530G>ACA493049830PKD1c.2493C>T (p.Pro831=)
c.472+2959C>T
c.1424C>T (n.1424C>T)
c.2547C>T (p.Pro849=)
c.2475C>T (p.Pro825=)
c.2421C>T (p.Pro807=)
c.2340C>T (p.Pro780=)
c.2283C>T (p.Pro761=)
c.369C>T (p.Pro123=)
n.2562C>T
c.-557C>T (n.-557C>T)
 dbSNP gnomAD v3 gnomAD v4
16g.2114530G>CCA493049831PKD1c.2493C>G (p.Pro831=)
c.472+2959C>G
c.1424C>G (n.1424C>G)
c.2547C>G (p.Pro849=)
c.2475C>G (p.Pro825=)
c.2421C>G (p.Pro807=)
c.2340C>G (p.Pro780=)
c.2283C>G (p.Pro761=)
c.369C>G (p.Pro123=)
n.2562C>G
c.-557C>G (n.-557C>G)
16g.2114530G=CA2202049769PKD1c.2493C= (p.Pro831=)
c.472+2959C=
c.1424C= (n.1424C=)
c.2547C= (p.Pro849=)
c.2475C= (p.Pro825=)
c.2421C= (p.Pro807=)
c.2340C= (p.Pro780=)
c.2283C= (p.Pro761=)
c.369C= (p.Pro123=)
n.2562C=
c.-557C= (n.-557C=)
16g.2114530G>TCA493049833PKD1c.2493C>A (p.Pro831=)
c.472+2959C>A
c.1424C>A (n.1424C>A)
c.2547C>A (p.Pro849=)
c.2475C>A (p.Pro825=)
c.2421C>A (p.Pro807=)
c.2340C>A (p.Pro780=)
c.2283C>A (p.Pro761=)
c.369C>A (p.Pro123=)
n.2562C>A
c.-557C>A (n.-557C>A)
 gnomAD v4
16g.2114531G>ACA394387701PKD1c.2492C>T (p.Pro831Leu)
c.472+2958C>T
c.1423C>T (n.1423C>T)
c.2546C>T (p.Pro849Leu)
c.2474C>T (p.Pro825Leu)
c.2420C>T (p.Pro807Leu)
c.2339C>T (p.Pro780Leu)
c.2282C>T (p.Pro761Leu)
c.368C>T (p.Pro123Leu)
n.2561C>T
c.-558C>T (n.-558C>T)
 gnomAD v4
16g.2114531G>CCA394387703PKD1c.2492C>G (p.Pro831Arg)
c.472+2958C>G
c.1423C>G (n.1423C>G)
c.2546C>G (p.Pro849Arg)
c.2474C>G (p.Pro825Arg)
c.2420C>G (p.Pro807Arg)
c.2339C>G (p.Pro780Arg)
c.2282C>G (p.Pro761Arg)
c.368C>G (p.Pro123Arg)
n.2561C>G
c.-558C>G (n.-558C>G)
16g.2114531G>TCA394387704PKD1c.2492C>A (p.Pro831His)
c.472+2958C>A
c.1423C>A (n.1423C>A)
c.2546C>A (p.Pro849His)
c.2474C>A (p.Pro825His)
c.2420C>A (p.Pro807His)
c.2339C>A (p.Pro780His)
c.2282C>A (p.Pro761His)
c.368C>A (p.Pro123His)
n.2561C>A
c.-558C>A (n.-558C>A)
 ClinVar gnomAD v4
16g.2114532G>ACA394387706PKD1c.2491C>T (p.Pro831Ser)
c.472+2957C>T
c.1422C>T (n.1422C>T)
c.2545C>T (p.Pro849Ser)
c.2473C>T (p.Pro825Ser)
c.2419C>T (p.Pro807Ser)
c.2338C>T (p.Pro780Ser)
c.2281C>T (p.Pro761Ser)
c.367C>T (p.Pro123Ser)
n.2560C>T
c.-559C>T (n.-559C>T)
 gnomAD v4
16g.2114532G>CCA394387708PKD1c.2491C>G (p.Pro831Ala)
c.472+2957C>G
c.1422C>G (n.1422C>G)
c.2545C>G (p.Pro849Ala)
c.2473C>G (p.Pro825Ala)
c.2419C>G (p.Pro807Ala)
c.2338C>G (p.Pro780Ala)
c.2281C>G (p.Pro761Ala)
c.367C>G (p.Pro123Ala)
n.2560C>G
c.-559C>G (n.-559C>G)
16g.2114532G>TCA394387709PKD1c.2491C>A (p.Pro831Thr)
c.472+2957C>A
c.1422C>A (n.1422C>A)
c.2545C>A (p.Pro849Thr)
c.2473C>A (p.Pro825Thr)
c.2419C>A (p.Pro807Thr)
c.2338C>A (p.Pro780Thr)
c.2281C>A (p.Pro761Thr)
c.367C>A (p.Pro123Thr)
n.2560C>A
c.-559C>A (n.-559C>A)
16g.2114533G>ACA493049836PKD1c.2490C>T (p.Ala830=)
c.472+2956C>T
c.1421C>T (n.1421C>T)
c.2544C>T (p.Ala848=)
c.2472C>T (p.Ala824=)
c.2418C>T (p.Ala806=)
c.2337C>T (p.Ala779=)
c.2280C>T (p.Ala760=)
c.366C>T (p.Ala122=)
n.2559C>T
c.-560C>T (n.-560C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114533G>CCA493049837PKD1c.2490C>G (p.Ala830=)
c.472+2956C>G
c.1421C>G (n.1421C>G)
c.2544C>G (p.Ala848=)
c.2472C>G (p.Ala824=)
c.2418C>G (p.Ala806=)
c.2337C>G (p.Ala779=)
c.2280C>G (p.Ala760=)
c.366C>G (p.Ala122=)
n.2559C>G
c.-560C>G (n.-560C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114533G=CA2202049770PKD1c.2490C= (p.Ala830=)
c.472+2956C=
c.1421C= (n.1421C=)
c.2544C= (p.Ala848=)
c.2472C= (p.Ala824=)
c.2418C= (p.Ala806=)
c.2337C= (p.Ala779=)
c.2280C= (p.Ala760=)
c.366C= (p.Ala122=)
n.2559C=
c.-560C= (n.-560C=)
16g.2114533G>TCA493049840PKD1c.2490C>A (p.Ala830=)
c.472+2956C>A
c.1421C>A (n.1421C>A)
c.2544C>A (p.Ala848=)
c.2472C>A (p.Ala824=)
c.2418C>A (p.Ala806=)
c.2337C>A (p.Ala779=)
c.2280C>A (p.Ala760=)
c.366C>A (p.Ala122=)
n.2559C>A
c.-560C>A (n.-560C>A)
16g.2114534G>ACA7833200PKD1c.2489C>T (p.Ala830Val)
c.472+2955C>T
c.1420C>T (n.1420C>T)
c.2543C>T (p.Ala848Val)
c.2471C>T (p.Ala824Val)
c.2417C>T (p.Ala806Val)
c.2336C>T (p.Ala779Val)
c.2279C>T (p.Ala760Val)
c.365C>T (p.Ala122Val)
n.2558C>T
c.-561C>T (n.-561C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114534G>CCA394387712PKD1c.2489C>G (p.Ala830Gly)
c.472+2955C>G
c.1420C>G (n.1420C>G)
c.2543C>G (p.Ala848Gly)
c.2471C>G (p.Ala824Gly)
c.2417C>G (p.Ala806Gly)
c.2336C>G (p.Ala779Gly)
c.2279C>G (p.Ala760Gly)
c.365C>G (p.Ala122Gly)
n.2558C>G
c.-561C>G (n.-561C>G)
16g.2114534G=CA2202049771PKD1c.2489C= (p.Ala830=)
c.472+2955C=
c.1420C= (n.1420C=)
c.2543C= (p.Ala848=)
c.2471C= (p.Ala824=)
c.2417C= (p.Ala806=)
c.2336C= (p.Ala779=)
c.2279C= (p.Ala760=)
c.365C= (p.Ala122=)
n.2558C=
c.-561C= (n.-561C=)
16g.2114534G>TCA394387714PKD1c.2489C>A (p.Ala830Asp)
c.472+2955C>A
c.1420C>A (n.1420C>A)
c.2543C>A (p.Ala848Asp)
c.2471C>A (p.Ala824Asp)
c.2417C>A (p.Ala806Asp)
c.2336C>A (p.Ala779Asp)
c.2279C>A (p.Ala760Asp)
c.365C>A (p.Ala122Asp)
n.2558C>A
c.-561C>A (n.-561C>A)
16g.2114535C>ACA7833201PKD1c.2488G>T (p.Ala830Ser)
c.472+2954G>T
c.1419G>T (n.1419G>T)
c.2542G>T (p.Ala848Ser)
c.2470G>T (p.Ala824Ser)
c.2416G>T (p.Ala806Ser)
c.2335G>T (p.Ala779Ser)
c.2278G>T (p.Ala760Ser)
c.364G>T (p.Ala122Ser)
n.2557G>T
c.-562G>T (n.-562G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114535C=CA2202049772PKD1c.2488G= (p.Ala830=)
c.472+2954G=
c.1419G= (n.1419G=)
c.2542G= (p.Ala848=)
c.2470G= (p.Ala824=)
c.2416G= (p.Ala806=)
c.2335G= (p.Ala779=)
c.2278G= (p.Ala760=)
c.364G= (p.Ala122=)
n.2557G=
c.-562G= (n.-562G=)
16g.2114535C>GCA394387715PKD1c.2488G>C (p.Ala830Pro)
c.472+2954G>C
c.1419G>C (n.1419G>C)
c.2542G>C (p.Ala848Pro)
c.2470G>C (p.Ala824Pro)
c.2416G>C (p.Ala806Pro)
c.2335G>C (p.Ala779Pro)
c.2278G>C (p.Ala760Pro)
c.364G>C (p.Ala122Pro)
n.2557G>C
c.-562G>C (n.-562G>C)
16g.2114535C>TCA394387717PKD1c.2488G>A (p.Ala830Thr)
c.472+2954G>A
c.1419G>A (n.1419G>A)
c.2542G>A (p.Ala848Thr)
c.2470G>A (p.Ala824Thr)
c.2416G>A (p.Ala806Thr)
c.2335G>A (p.Ala779Thr)
c.2278G>A (p.Ala760Thr)
c.364G>A (p.Ala122Thr)
n.2557G>A
c.-562G>A (n.-562G>A)
16g.2114536A=CA2202049773PKD1c.2487T= (p.Pro829=)
c.472+2953T=
c.1418T= (n.1418T=)
c.2541T= (p.Pro847=)
c.2469T= (p.Pro823=)
c.2415T= (p.Pro805=)
c.2334T= (p.Pro778=)
c.2277T= (p.Pro759=)
c.363T= (p.Pro121=)
n.2556T=
c.-563T= (n.-563T=)
16g.2114536A>CCA7833203PKD1c.2487T>G (p.Pro829=)
c.472+2953T>G
c.1418T>G (n.1418T>G)
c.2541T>G (p.Pro847=)
c.2469T>G (p.Pro823=)
c.2415T>G (p.Pro805=)
c.2334T>G (p.Pro778=)
c.2277T>G (p.Pro759=)
c.363T>G (p.Pro121=)
n.2556T>G
c.-563T>G (n.-563T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114536A>GCA7833202PKD1c.2487T>C (p.Pro829=)
c.472+2953T>C
c.1418T>C (n.1418T>C)
c.2541T>C (p.Pro847=)
c.2469T>C (p.Pro823=)
c.2415T>C (p.Pro805=)
c.2334T>C (p.Pro778=)
c.2277T>C (p.Pro759=)
c.363T>C (p.Pro121=)
n.2556T>C
c.-563T>C (n.-563T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2114536A>TCA493049854PKD1c.2487T>A (p.Pro829=)
c.472+2953T>A
c.1418T>A (n.1418T>A)
c.2541T>A (p.Pro847=)
c.2469T>A (p.Pro823=)
c.2415T>A (p.Pro805=)
c.2334T>A (p.Pro778=)
c.2277T>A (p.Pro759=)
c.363T>A (p.Pro121=)
n.2556T>A
c.-563T>A (n.-563T>A)
 gnomAD v4
16g.2114536dupCA2695222555PKD1c.2487dup (p.Ala830CysfsTer?)
c.472+2953dup
c.1418dup (n.1418dup)
c.2541dup (p.Ala848CysfsTer?)
c.2469dup (p.Ala824CysfsTer?)
c.2415dup (p.Ala806CysfsTer?)
c.2334dup (p.Ala779CysfsTer?)
c.2277dup (p.Ala760CysfsTer?)
c.363dup (p.Ala122CysfsTer?)
n.2556dup
c.-563dup (n.-563dup)
16g.2114537G>ACA394387719PKD1c.2486C>T (p.Pro829Leu)
c.472+2952C>T
c.1417C>T (n.1417C>T)
c.2540C>T (p.Pro847Leu)
c.2468C>T (p.Pro823Leu)
c.2414C>T (p.Pro805Leu)
c.2333C>T (p.Pro778Leu)
c.2276C>T (p.Pro759Leu)
c.362C>T (p.Pro121Leu)
n.2555C>T
c.-564C>T (n.-564C>T)
 gnomAD v4
16g.2114537G>CCA394387720PKD1c.2486C>G (p.Pro829Arg)
c.472+2952C>G
c.1417C>G (n.1417C>G)
c.2540C>G (p.Pro847Arg)
c.2468C>G (p.Pro823Arg)
c.2414C>G (p.Pro805Arg)
c.2333C>G (p.Pro778Arg)
c.2276C>G (p.Pro759Arg)
c.362C>G (p.Pro121Arg)
n.2555C>G
c.-564C>G (n.-564C>G)
16g.2114537G>TCA394387722PKD1c.2486C>A (p.Pro829His)
c.472+2952C>A
c.1417C>A (n.1417C>A)
c.2540C>A (p.Pro847His)
c.2468C>A (p.Pro823His)
c.2414C>A (p.Pro805His)
c.2333C>A (p.Pro778His)
c.2276C>A (p.Pro759His)
c.362C>A (p.Pro121His)
n.2555C>A
c.-564C>A (n.-564C>A)
16g.2114539delCA2695222556PKD1c.2486del (p.Pro829LeufsTer?)
c.472+2952del
c.1417del (n.1417del)
c.2540del (p.Pro847LeufsTer?)
c.2468del (p.Pro823LeufsTer?)
c.2414del (p.Pro805LeufsTer?)
c.2333del (p.Pro778LeufsTer?)
c.2276del (p.Pro759LeufsTer?)
c.362del (p.Pro121LeufsTer?)
n.2555del
c.-564del (n.-564del)
16g.2114538_2114539delCA2631142020PKD1c.2485_2486del (p.Pro829CysfsTer?)
c.472+2951_472+2952del
c.1416_1417del (n.1416_1417del)
c.2539_2540del (p.Pro847CysfsTer?)
c.2467_2468del (p.Pro823CysfsTer?)
c.2413_2414del (p.Pro805CysfsTer?)
c.2332_2333del (p.Pro778CysfsTer?)
c.2275_2276del (p.Pro759CysfsTer?)
c.361_362del (p.Pro121CysfsTer?)
n.2554_2555del
c.-565_-564del (n.-565_-564del)
 gnomAD v4
16g.2114538G>ACA394387725PKD1c.2485C>T (p.Pro829Ser)
c.472+2951C>T
c.1416C>T (n.1416C>T)
c.2539C>T (p.Pro847Ser)
c.2467C>T (p.Pro823Ser)
c.2413C>T (p.Pro805Ser)
c.2332C>T (p.Pro778Ser)
c.2275C>T (p.Pro759Ser)
c.361C>T (p.Pro121Ser)
n.2554C>T
c.-565C>T (n.-565C>T)
 gnomAD v4
16g.2114538G>CCA394387726PKD1c.2485C>G (p.Pro829Ala)
c.472+2951C>G
c.1416C>G (n.1416C>G)
c.2539C>G (p.Pro847Ala)
c.2467C>G (p.Pro823Ala)
c.2413C>G (p.Pro805Ala)
c.2332C>G (p.Pro778Ala)
c.2275C>G (p.Pro759Ala)
c.361C>G (p.Pro121Ala)
n.2554C>G
c.-565C>G (n.-565C>G)
16g.2114538G>TCA394387727PKD1c.2485C>A (p.Pro829Thr)
c.472+2951C>A
c.1416C>A (n.1416C>A)
c.2539C>A (p.Pro847Thr)
c.2467C>A (p.Pro823Thr)
c.2413C>A (p.Pro805Thr)
c.2332C>A (p.Pro778Thr)
c.2275C>A (p.Pro759Thr)
c.361C>A (p.Pro121Thr)
n.2554C>A
c.-565C>A (n.-565C>A)
16g.2114539G>ACA493049863PKD1c.2484C>T (p.Tyr828=)
c.472+2950C>T
c.1415C>T (n.1415C>T)
c.2538C>T (p.Tyr846=)
c.2466C>T (p.Tyr822=)
c.2412C>T (p.Tyr804=)
c.2331C>T (p.Tyr777=)
c.2274C>T (p.Tyr758=)
c.360C>T (p.Tyr120=)
n.2553C>T
c.-566C>T (n.-566C>T)
 dbSNP gnomAD v2 gnomAD v4
16g.2114539G>CCA394387729PKD1c.2484C>G (p.Tyr828Ter)
c.472+2950C>G
c.1415C>G (n.1415C>G)
c.2538C>G (p.Tyr846Ter)
c.2466C>G (p.Tyr822Ter)
c.2412C>G (p.Tyr804Ter)
c.2331C>G (p.Tyr777Ter)
c.2274C>G (p.Tyr758Ter)
c.360C>G (p.Tyr120Ter)
n.2553C>G
c.-566C>G (n.-566C>G)
16g.2114539G=CA2202049774PKD1c.2484C= (p.Tyr828=)
c.472+2950C=
c.1415C= (n.1415C=)
c.2538C= (p.Tyr846=)
c.2466C= (p.Tyr822=)
c.2412C= (p.Tyr804=)
c.2331C= (p.Tyr777=)
c.2274C= (p.Tyr758=)
c.360C= (p.Tyr120=)
n.2553C=
c.-566C= (n.-566C=)
16g.2114539G>TCA394387730PKD1c.2484C>A (p.Tyr828Ter)
c.472+2950C>A
c.1415C>A (n.1415C>A)
c.2538C>A (p.Tyr846Ter)
c.2466C>A (p.Tyr822Ter)
c.2412C>A (p.Tyr804Ter)
c.2331C>A (p.Tyr777Ter)
c.2274C>A (p.Tyr758Ter)
c.360C>A (p.Tyr120Ter)
n.2553C>A
c.-566C>A (n.-566C>A)
 ClinVar gnomAD v4
16g.2114540T>ACA394387732PKD1c.2483A>T (p.Tyr828Phe)
c.472+2949A>T
c.1414A>T (n.1414A>T)
c.2537A>T (p.Tyr846Phe)
c.2465A>T (p.Tyr822Phe)
c.2411A>T (p.Tyr804Phe)
c.2330A>T (p.Tyr777Phe)
c.2273A>T (p.Tyr758Phe)
c.359A>T (p.Tyr120Phe)
n.2552A>T
c.-567A>T (n.-567A>T)
 gnomAD v4
16g.2114540T>CCA394387733PKD1c.2483A>G (p.Tyr828Cys)
c.472+2949A>G
c.1414A>G (n.1414A>G)
c.2537A>G (p.Tyr846Cys)
c.2465A>G (p.Tyr822Cys)
c.2411A>G (p.Tyr804Cys)
c.2330A>G (p.Tyr777Cys)
c.2273A>G (p.Tyr758Cys)
c.359A>G (p.Tyr120Cys)
n.2552A>G
c.-567A>G (n.-567A>G)
16g.2114540T>GCA394387735PKD1c.2483A>C (p.Tyr828Ser)
c.472+2949A>C
c.1414A>C (n.1414A>C)
c.2537A>C (p.Tyr846Ser)
c.2465A>C (p.Tyr822Ser)
c.2411A>C (p.Tyr804Ser)
c.2330A>C (p.Tyr777Ser)
c.2273A>C (p.Tyr758Ser)
c.359A>C (p.Tyr120Ser)
n.2552A>C
c.-567A>C (n.-567A>C)
16g.2114541A>CCA394387740PKD1c.2482T>G (p.Tyr828Asp)
c.472+2948T>G
c.1413T>G (n.1413T>G)
c.2536T>G (p.Tyr846Asp)
c.2464T>G (p.Tyr822Asp)
c.2410T>G (p.Tyr804Asp)
c.2329T>G (p.Tyr777Asp)
c.2272T>G (p.Tyr758Asp)
c.358T>G (p.Tyr120Asp)
n.2551T>G
c.-568T>G (n.-568T>G)
16g.2114541A>GCA394387738PKD1c.2482T>C (p.Tyr828His)
c.472+2948T>C
c.1413T>C (n.1413T>C)
c.2536T>C (p.Tyr846His)
c.2464T>C (p.Tyr822His)
c.2410T>C (p.Tyr804His)
c.2329T>C (p.Tyr777His)
c.2272T>C (p.Tyr758His)
c.358T>C (p.Tyr120His)
n.2551T>C
c.-568T>C (n.-568T>C)
16g.2114541A>TCA394387736PKD1c.2482T>A (p.Tyr828Asn)
c.472+2948T>A
c.1413T>A (n.1413T>A)
c.2536T>A (p.Tyr846Asn)
c.2464T>A (p.Tyr822Asn)
c.2410T>A (p.Tyr804Asn)
c.2329T>A (p.Tyr777Asn)
c.2272T>A (p.Tyr758Asn)
c.358T>A (p.Tyr120Asn)
n.2551T>A
c.-568T>A (n.-568T>A)
16g.2114542G>ACA493049874PKD1c.2481C>T (p.Ile827=)
c.472+2947C>T
c.1412C>T (n.1412C>T)
c.2535C>T (p.Ile845=)
c.2463C>T (p.Ile821=)
c.2409C>T (p.Ile803=)
c.2328C>T (p.Ile776=)
c.2271C>T (p.Ile757=)
c.357C>T (p.Ile119=)
n.2550C>T
c.-569C>T (n.-569C>T)
 gnomAD v4
16g.2114542G>CCA394387741PKD1c.2481C>G (p.Ile827Met)
c.472+2947C>G
c.1412C>G (n.1412C>G)
c.2535C>G (p.Ile845Met)
c.2463C>G (p.Ile821Met)
c.2409C>G (p.Ile803Met)
c.2328C>G (p.Ile776Met)
c.2271C>G (p.Ile757Met)
c.357C>G (p.Ile119Met)
n.2550C>G
c.-569C>G (n.-569C>G)
 dbSNP gnomAD v3 gnomAD v4
16g.2114542G=CA2202049775PKD1c.2481C= (p.Ile827=)
c.472+2947C=
c.1412C= (n.1412C=)
c.2535C= (p.Ile845=)
c.2463C= (p.Ile821=)
c.2409C= (p.Ile803=)
c.2328C= (p.Ile776=)
c.2271C= (p.Ile757=)
c.357C= (p.Ile119=)
n.2550C=
c.-569C= (n.-569C=)
16g.2114542G>TCA493049875PKD1c.2481C>A (p.Ile827=)
c.472+2947C>A
c.1412C>A (n.1412C>A)
c.2535C>A (p.Ile845=)
c.2463C>A (p.Ile821=)
c.2409C>A (p.Ile803=)
c.2328C>A (p.Ile776=)
c.2271C>A (p.Ile757=)
c.357C>A (p.Ile119=)
n.2550C>A
c.-569C>A (n.-569C>A)
16g.2114544_2114568delCA2695222557PKD1c.2457_2481del (p.Pro820ThrfsTer?)
c.472+2923_472+2947del
c.1388_1412del (n.1388_1412del)
c.2511_2535del (p.Pro838ThrfsTer?)
c.2439_2463del (p.Pro814ThrfsTer?)
c.2385_2409del (p.Pro796ThrfsTer?)
c.2304_2328del (p.Pro769ThrfsTer?)
c.2247_2271del (p.Pro750ThrfsTer?)
c.333_357del (p.Pro112ThrfsTer?)
n.2526_2550del
c.-593_-569del (n.-593_-569del)
16g.2114543A=CA2202049776PKD1c.2480T= (p.Ile827=)
c.472+2946T=
c.1411T= (n.1411T=)
c.2534T= (p.Ile845=)
c.2462T= (p.Ile821=)
c.2408T= (p.Ile803=)
c.2327T= (p.Ile776=)
c.2270T= (p.Ile757=)
c.356T= (p.Ile119=)
n.2549T=
c.-570T= (n.-570T=)
16g.2114543A>CCA394387743PKD1c.2480T>G (p.Ile827Ser)
c.472+2946T>G
c.1411T>G (n.1411T>G)
c.2534T>G (p.Ile845Ser)
c.2462T>G (p.Ile821Ser)
c.2408T>G (p.Ile803Ser)
c.2327T>G (p.Ile776Ser)
c.2270T>G (p.Ile757Ser)
c.356T>G (p.Ile119Ser)
n.2549T>G
c.-570T>G (n.-570T>G)
16g.2114543A>GCA276782803PKD1c.2480T>C (p.Ile827Thr)
c.472+2946T>C
c.1411T>C (n.1411T>C)
c.2534T>C (p.Ile845Thr)
c.2462T>C (p.Ile821Thr)
c.2408T>C (p.Ile803Thr)
c.2327T>C (p.Ile776Thr)
c.2270T>C (p.Ile757Thr)
c.356T>C (p.Ile119Thr)
n.2549T>C
c.-570T>C (n.-570T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114543A>TCA394387745PKD1c.2480T>A (p.Ile827Asn)
c.472+2946T>A
c.1411T>A (n.1411T>A)
c.2534T>A (p.Ile845Asn)
c.2462T>A (p.Ile821Asn)
c.2408T>A (p.Ile803Asn)
c.2327T>A (p.Ile776Asn)
c.2270T>A (p.Ile757Asn)
c.356T>A (p.Ile119Asn)
n.2549T>A
c.-570T>A (n.-570T>A)
16g.2114544T>ACA394387748PKD1c.2479A>T (p.Ile827Phe)
c.472+2945A>T
c.1410A>T (n.1410A>T)
c.2533A>T (p.Ile845Phe)
c.2461A>T (p.Ile821Phe)
c.2407A>T (p.Ile803Phe)
c.2326A>T (p.Ile776Phe)
c.2269A>T (p.Ile757Phe)
c.355A>T (p.Ile119Phe)
n.2548A>T
c.-571A>T (n.-571A>T)
16g.2114544T>CCA394387749PKD1c.2479A>G (p.Ile827Val)
c.472+2945A>G
c.1410A>G (n.1410A>G)
c.2533A>G (p.Ile845Val)
c.2461A>G (p.Ile821Val)
c.2407A>G (p.Ile803Val)
c.2326A>G (p.Ile776Val)
c.2269A>G (p.Ile757Val)
c.355A>G (p.Ile119Val)
n.2548A>G
c.-571A>G (n.-571A>G)
 gnomAD v4
16g.2114544T>GCA394387750PKD1c.2479A>C (p.Ile827Leu)
c.472+2945A>C
c.1410A>C (n.1410A>C)
c.2533A>C (p.Ile845Leu)
c.2461A>C (p.Ile821Leu)
c.2407A>C (p.Ile803Leu)
c.2326A>C (p.Ile776Leu)
c.2269A>C (p.Ile757Leu)
c.355A>C (p.Ile119Leu)
n.2548A>C
c.-571A>C (n.-571A>C)
16g.2114545delCA2695222558PKD1c.2478del (p.Ile827SerfsTer?)
c.472+2944del
c.1409del (n.1409del)
c.2532del (p.Ile845SerfsTer?)
c.2460del (p.Ile821SerfsTer?)
c.2406del (p.Ile803SerfsTer?)
c.2325del (p.Ile776SerfsTer?)
c.2268del (p.Ile757SerfsTer?)
c.354del (p.Ile119SerfsTer?)
n.2547del
c.-572del (n.-572del)
16g.2114545G>ACA493049883PKD1c.2478C>T (p.Val826=)
c.472+2944C>T
c.1409C>T (n.1409C>T)
c.2532C>T (p.Val844=)
c.2460C>T (p.Val820=)
c.2406C>T (p.Val802=)
c.2325C>T (p.Val775=)
c.2268C>T (p.Val756=)
c.354C>T (p.Val118=)
n.2547C>T
c.-572C>T (n.-572C>T)
 gnomAD v4
16g.2114545G>CCA493049881PKD1c.2478C>G (p.Val826=)
c.472+2944C>G
c.1409C>G (n.1409C>G)
c.2532C>G (p.Val844=)
c.2460C>G (p.Val820=)
c.2406C>G (p.Val802=)
c.2325C>G (p.Val775=)
c.2268C>G (p.Val756=)
c.354C>G (p.Val118=)
n.2547C>G
c.-572C>G (n.-572C>G)
 dbSNP
16g.2114545G=CA2202049777PKD1c.2478C= (p.Val826=)
c.472+2944C=
c.1409C= (n.1409C=)
c.2532C= (p.Val844=)
c.2460C= (p.Val820=)
c.2406C= (p.Val802=)
c.2325C= (p.Val775=)
c.2268C= (p.Val756=)
c.354C= (p.Val118=)
n.2547C=
c.-572C= (n.-572C=)
16g.2114545G>TCA493049879PKD1c.2478C>A (p.Val826=)
c.472+2944C>A
c.1409C>A (n.1409C>A)
c.2532C>A (p.Val844=)
c.2460C>A (p.Val820=)
c.2406C>A (p.Val802=)
c.2325C>A (p.Val775=)
c.2268C>A (p.Val756=)
c.354C>A (p.Val118=)
n.2547C>A
c.-572C>A (n.-572C>A)
16g.2114546_2114550dupCA2695222559PKD1c.2474_2478dup (p.Ile827GlyfsTer?)
c.472+2940_472+2944dup
c.1405_1409dup (n.1405_1409dup)
c.2528_2532dup (p.Ile845GlyfsTer?)
c.2456_2460dup (p.Ile821GlyfsTer?)
c.2402_2406dup (p.Ile803GlyfsTer?)
c.2321_2325dup (p.Ile776GlyfsTer?)
c.2264_2268dup (p.Ile757GlyfsTer?)
c.350_354dup (p.Ile119GlyfsTer?)
n.2543_2547dup
c.-576_-572dup (n.-576_-572dup)
16g.2114546A=CA2202049778PKD1c.2477T= (p.Val826=)
c.472+2943T=
c.1408T= (n.1408T=)
c.2531T= (p.Val844=)
c.2459T= (p.Val820=)
c.2405T= (p.Val802=)
c.2324T= (p.Val775=)
c.2267T= (p.Val756=)
c.353T= (p.Val118=)
n.2546T=
c.-573T= (n.-573T=)
16g.2114546A>CCA394387752PKD1c.2477T>G (p.Val826Gly)
c.472+2943T>G
c.1408T>G (n.1408T>G)
c.2531T>G (p.Val844Gly)
c.2459T>G (p.Val820Gly)
c.2405T>G (p.Val802Gly)
c.2324T>G (p.Val775Gly)
c.2267T>G (p.Val756Gly)
c.353T>G (p.Val118Gly)
n.2546T>G
c.-573T>G (n.-573T>G)
 dbSNP gnomAD v2 gnomAD v4
16g.2114546A>GCA394387755PKD1c.2477T>C (p.Val826Ala)
c.472+2943T>C
c.1408T>C (n.1408T>C)
c.2531T>C (p.Val844Ala)
c.2459T>C (p.Val820Ala)
c.2405T>C (p.Val802Ala)
c.2324T>C (p.Val775Ala)
c.2267T>C (p.Val756Ala)
c.353T>C (p.Val118Ala)
n.2546T>C
c.-573T>C (n.-573T>C)
 dbSNP gnomAD v2 gnomAD v4
16g.2114546A>TCA394387754PKD1c.2477T>A (p.Val826Asp)
c.472+2943T>A
c.1408T>A (n.1408T>A)
c.2531T>A (p.Val844Asp)
c.2459T>A (p.Val820Asp)
c.2405T>A (p.Val802Asp)
c.2324T>A (p.Val775Asp)
c.2267T>A (p.Val756Asp)
c.353T>A (p.Val118Asp)
n.2546T>A
c.-573T>A (n.-573T>A)
 gnomAD v4
16g.2114547C>ACA394387757PKD1c.2476G>T (p.Val826Phe)
c.472+2942G>T
c.1407G>T (n.1407G>T)
c.2530G>T (p.Val844Phe)
c.2458G>T (p.Val820Phe)
c.2404G>T (p.Val802Phe)
c.2323G>T (p.Val775Phe)
c.2266G>T (p.Val756Phe)
c.352G>T (p.Val118Phe)
n.2545G>T
c.-574G>T (n.-574G>T)
16g.2114547C>GCA394387759PKD1c.2476G>C (p.Val826Leu)
c.472+2942G>C
c.1407G>C (n.1407G>C)
c.2530G>C (p.Val844Leu)
c.2458G>C (p.Val820Leu)
c.2404G>C (p.Val802Leu)
c.2323G>C (p.Val775Leu)
c.2266G>C (p.Val756Leu)
c.352G>C (p.Val118Leu)
n.2545G>C
c.-574G>C (n.-574G>C)
16g.2114547C>TCA394387761PKD1c.2476G>A (p.Val826Ile)
c.472+2942G>A
c.1407G>A (n.1407G>A)
c.2530G>A (p.Val844Ile)
c.2458G>A (p.Val820Ile)
c.2404G>A (p.Val802Ile)
c.2323G>A (p.Val775Ile)
c.2266G>A (p.Val756Ile)
c.352G>A (p.Val118Ile)
n.2545G>A
c.-574G>A (n.-574G>A)
16g.2114549delCA2575879044PKD1c.2476del (p.Val826SerfsTer?)
c.472+2942del
c.1407del (n.1407del)
c.2530del (p.Val844SerfsTer?)
c.2458del (p.Val820SerfsTer?)
c.2404del (p.Val802SerfsTer?)
c.2323del (p.Val775SerfsTer?)
c.2266del (p.Val756SerfsTer?)
c.352del (p.Val118SerfsTer?)
n.2545del
c.-574del (n.-574del)
16g.2114548C>ACA493049891PKD1c.2475G>T (p.Arg825=)
c.472+2941G>T
c.1406G>T (n.1406G>T)
c.2529G>T (p.Arg843=)
c.2457G>T (p.Arg819=)
c.2403G>T (p.Arg801=)
c.2322G>T (p.Arg774=)
c.2265G>T (p.Arg755=)
c.351G>T (p.Arg117=)
n.2544G>T
c.-575G>T (n.-575G>T)
16g.2114548C=CA2202049779PKD1c.2475G= (p.Arg825=)
c.472+2941G=
c.1406G= (n.1406G=)
c.2529G= (p.Arg843=)
c.2457G= (p.Arg819=)
c.2403G= (p.Arg801=)
c.2322G= (p.Arg774=)
c.2265G= (p.Arg755=)
c.351G= (p.Arg117=)
n.2544G=
c.-575G= (n.-575G=)
16g.2114548C>GCA493049895PKD1c.2475G>C (p.Arg825=)
c.472+2941G>C
c.1406G>C (n.1406G>C)
c.2529G>C (p.Arg843=)
c.2457G>C (p.Arg819=)
c.2403G>C (p.Arg801=)
c.2322G>C (p.Arg774=)
c.2265G>C (p.Arg755=)
c.351G>C (p.Arg117=)
n.2544G>C
c.-575G>C (n.-575G>C)
16g.2114548C>TCA7833204PKD1c.2475G>A (p.Arg825=)
c.472+2941G>A
c.1406G>A (n.1406G>A)
c.2529G>A (p.Arg843=)
c.2457G>A (p.Arg819=)
c.2403G>A (p.Arg801=)
c.2322G>A (p.Arg774=)
c.2265G>A (p.Arg755=)
c.351G>A (p.Arg117=)
n.2544G>A
c.-575G>A (n.-575G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114549C>ACA394387763PKD1c.2474G>T (p.Arg825Leu)
c.472+2940G>T
c.1405G>T (n.1405G>T)
c.2528G>T (p.Arg843Leu)
c.2456G>T (p.Arg819Leu)
c.2402G>T (p.Arg801Leu)
c.2321G>T (p.Arg774Leu)
c.2264G>T (p.Arg755Leu)
c.350G>T (p.Arg117Leu)
n.2543G>T
c.-576G>T (n.-576G>T)
 gnomAD v4
16g.2114549C=CA2202049780PKD1c.2474G= (p.Arg825=)
c.472+2940G=
c.1405G= (n.1405G=)
c.2528G= (p.Arg843=)
c.2456G= (p.Arg819=)
c.2402G= (p.Arg801=)
c.2321G= (p.Arg774=)
c.2264G= (p.Arg755=)
c.350G= (p.Arg117=)
n.2543G=
c.-576G= (n.-576G=)
16g.2114549C>GCA394387765PKD1c.2474G>C (p.Arg825Pro)
c.472+2940G>C
c.1405G>C (n.1405G>C)
c.2528G>C (p.Arg843Pro)
c.2456G>C (p.Arg819Pro)
c.2402G>C (p.Arg801Pro)
c.2321G>C (p.Arg774Pro)
c.2264G>C (p.Arg755Pro)
c.350G>C (p.Arg117Pro)
n.2543G>C
c.-576G>C (n.-576G>C)
16g.2114549C>TCA7833205PKD1c.2474G>A (p.Arg825Gln)
c.472+2940G>A
c.1405G>A (n.1405G>A)
c.2528G>A (p.Arg843Gln)
c.2456G>A (p.Arg819Gln)
c.2402G>A (p.Arg801Gln)
c.2321G>A (p.Arg774Gln)
c.2264G>A (p.Arg755Gln)
c.350G>A (p.Arg117Gln)
n.2543G>A
c.-576G>A (n.-576G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114550G>ACA7833206PKD1c.2473C>T (p.Arg825Trp)
c.472+2939C>T
c.1404C>T (n.1404C>T)
c.2527C>T (p.Arg843Trp)
c.2455C>T (p.Arg819Trp)
c.2401C>T (p.Arg801Trp)
c.2320C>T (p.Arg774Trp)
c.2263C>T (p.Arg755Trp)
c.349C>T (p.Arg117Trp)
n.2542C>T
c.-577C>T (n.-577C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114550G>CCA394387767PKD1c.2473C>G (p.Arg825Gly)
c.472+2939C>G
c.1404C>G (n.1404C>G)
c.2527C>G (p.Arg843Gly)
c.2455C>G (p.Arg819Gly)
c.2401C>G (p.Arg801Gly)
c.2320C>G (p.Arg774Gly)
c.2263C>G (p.Arg755Gly)
c.349C>G (p.Arg117Gly)
n.2542C>G
c.-577C>G (n.-577C>G)
16g.2114550G=CA2202049781PKD1c.2473C= (p.Arg825=)
c.472+2939C=
c.1404C= (n.1404C=)
c.2527C= (p.Arg843=)
c.2455C= (p.Arg819=)
c.2401C= (p.Arg801=)
c.2320C= (p.Arg774=)
c.2263C= (p.Arg755=)
c.349C= (p.Arg117=)
n.2542C=
c.-577C= (n.-577C=)
16g.2114550G>TCA493049900PKD1c.2473C>A (p.Arg825=)
c.472+2939C>A
c.1404C>A (n.1404C>A)
c.2527C>A (p.Arg843=)
c.2455C>A (p.Arg819=)
c.2401C>A (p.Arg801=)
c.2320C>A (p.Arg774=)
c.2263C>A (p.Arg755=)
c.349C>A (p.Arg117=)
n.2542C>A
c.-577C>A (n.-577C>A)
16g.2114551C>ACA493049901PKD1c.2472G>T (p.Leu824=)
c.472+2938G>T
c.1403G>T (n.1403G>T)
c.2526G>T (p.Leu842=)
c.2454G>T (p.Leu818=)
c.2400G>T (p.Leu800=)
c.2319G>T (p.Leu773=)
c.2262G>T (p.Leu754=)
c.348G>T (p.Leu116=)
n.2541G>T
c.-578G>T (n.-578G>T)
16g.2114551C>GCA493049903PKD1c.2472G>C (p.Leu824=)
c.472+2938G>C
c.1403G>C (n.1403G>C)
c.2526G>C (p.Leu842=)
c.2454G>C (p.Leu818=)
c.2400G>C (p.Leu800=)
c.2319G>C (p.Leu773=)
c.2262G>C (p.Leu754=)
c.348G>C (p.Leu116=)
n.2541G>C
c.-578G>C (n.-578G>C)
16g.2114551C>TCA493049902PKD1c.2472G>A (p.Leu824=)
c.472+2938G>A
c.1403G>A (n.1403G>A)
c.2526G>A (p.Leu842=)
c.2454G>A (p.Leu818=)
c.2400G>A (p.Leu800=)
c.2319G>A (p.Leu773=)
c.2262G>A (p.Leu754=)
c.348G>A (p.Leu116=)
n.2541G>A
c.-578G>A (n.-578G>A)
16g.2114552A>CCA394387769PKD1c.2471T>G (p.Leu824Arg)
c.472+2937T>G
c.1402T>G (n.1402T>G)
c.2525T>G (p.Leu842Arg)
c.2453T>G (p.Leu818Arg)
c.2399T>G (p.Leu800Arg)
c.2318T>G (p.Leu773Arg)
c.2261T>G (p.Leu754Arg)
c.347T>G (p.Leu116Arg)
n.2540T>G
c.-579T>G (n.-579T>G)
16g.2114552A>GCA394387771PKD1c.2471T>C (p.Leu824Pro)
c.472+2937T>C
c.1402T>C (n.1402T>C)
c.2525T>C (p.Leu842Pro)
c.2453T>C (p.Leu818Pro)
c.2399T>C (p.Leu800Pro)
c.2318T>C (p.Leu773Pro)
c.2261T>C (p.Leu754Pro)
c.347T>C (p.Leu116Pro)
n.2540T>C
c.-579T>C (n.-579T>C)
16g.2114552A>TCA394387772PKD1c.2471T>A (p.Leu824Gln)
c.472+2937T>A
c.1402T>A (n.1402T>A)
c.2525T>A (p.Leu842Gln)
c.2453T>A (p.Leu818Gln)
c.2399T>A (p.Leu800Gln)
c.2318T>A (p.Leu773Gln)
c.2261T>A (p.Leu754Gln)
c.347T>A (p.Leu116Gln)
n.2540T>A
c.-579T>A (n.-579T>A)
16g.2114553delCA2695222560PKD1c.2470del (p.Leu824CysfsTer?)
c.472+2936del
c.1401del (n.1401del)
c.2524del (p.Leu842CysfsTer?)
c.2452del (p.Leu818CysfsTer?)
c.2398del (p.Leu800CysfsTer?)
c.2317del (p.Leu773CysfsTer?)
c.2260del (p.Leu754CysfsTer?)
c.346del (p.Leu116CysfsTer?)
n.2539del
c.-580del (n.-580del)
16g.2114553G>ACA493049909PKD1c.2470C>T (p.Leu824=)
c.472+2936C>T
c.1401C>T (n.1401C>T)
c.2524C>T (p.Leu842=)
c.2452C>T (p.Leu818=)
c.2398C>T (p.Leu800=)
c.2317C>T (p.Leu773=)
c.2260C>T (p.Leu754=)
c.346C>T (p.Leu116=)
n.2539C>T
c.-580C>T (n.-580C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2114553G>CCA394387774PKD1c.2470C>G (p.Leu824Val)
c.472+2936C>G
c.1401C>G (n.1401C>G)
c.2524C>G (p.Leu842Val)
c.2452C>G (p.Leu818Val)
c.2398C>G (p.Leu800Val)
c.2317C>G (p.Leu773Val)
c.2260C>G (p.Leu754Val)
c.346C>G (p.Leu116Val)
n.2539C>G
c.-580C>G (n.-580C>G)
16g.2114553G=CA2202049782PKD1c.2470C= (p.Leu824=)
c.472+2936C=
c.1401C= (n.1401C=)
c.2524C= (p.Leu842=)
c.2452C= (p.Leu818=)
c.2398C= (p.Leu800=)
c.2317C= (p.Leu773=)
c.2260C= (p.Leu754=)
c.346C= (p.Leu116=)
n.2539C=
c.-580C= (n.-580C=)
16g.2114553G>TCA394387775PKD1c.2470C>A (p.Leu824Met)
c.472+2936C>A
c.1401C>A (n.1401C>A)
c.2524C>A (p.Leu842Met)
c.2452C>A (p.Leu818Met)
c.2398C>A (p.Leu800Met)
c.2317C>A (p.Leu773Met)
c.2260C>A (p.Leu754Met)
c.346C>A (p.Leu116Met)
n.2539C>A
c.-580C>A (n.-580C>A)
16g.2114554C>ACA493049915PKD1c.2469G>T (p.Gly823=)
c.472+2935G>T
c.1400G>T (n.1400G>T)
c.2523G>T (p.Gly841=)
c.2451G>T (p.Gly817=)
c.2397G>T (p.Gly799=)
c.2316G>T (p.Gly772=)
c.2259G>T (p.Gly753=)
c.345G>T (p.Gly115=)
n.2538G>T
c.-581G>T (n.-581G>T)
16g.2114554C=CA2202049783PKD1c.2469G= (p.Gly823=)
c.472+2935G=
c.1400G= (n.1400G=)
c.2523G= (p.Gly841=)
c.2451G= (p.Gly817=)
c.2397G= (p.Gly799=)
c.2316G= (p.Gly772=)
c.2259G= (p.Gly753=)
c.345G= (p.Gly115=)
n.2538G=
c.-581G= (n.-581G=)
16g.2114554C>GCA493049919PKD1c.2469G>C (p.Gly823=)
c.472+2935G>C
c.1400G>C (n.1400G>C)
c.2523G>C (p.Gly841=)
c.2451G>C (p.Gly817=)
c.2397G>C (p.Gly799=)
c.2316G>C (p.Gly772=)
c.2259G>C (p.Gly753=)
c.345G>C (p.Gly115=)
n.2538G>C
c.-581G>C (n.-581G>C)
16g.2114554C>TCA493049921PKD1c.2469G>A (p.Gly823=)
c.472+2935G>A
c.1400G>A (n.1400G>A)
c.2523G>A (p.Gly841=)
c.2451G>A (p.Gly817=)
c.2397G>A (p.Gly799=)
c.2316G>A (p.Gly772=)
c.2259G>A (p.Gly753=)
c.345G>A (p.Gly115=)
n.2538G>A
c.-581G>A (n.-581G>A)
 dbSNP gnomAD v4
16g.2114556delCA2631142021PKD1c.2469del (p.Leu824CysfsTer?)
c.472+2935del
c.1400del (n.1400del)
c.2523del (p.Leu842CysfsTer?)
c.2451del (p.Leu818CysfsTer?)
c.2397del (p.Leu800CysfsTer?)
c.2316del (p.Leu773CysfsTer?)
c.2259del (p.Leu754CysfsTer?)
c.345del (p.Leu116CysfsTer?)
n.2538del
c.-581del (n.-581del)
 gnomAD v4
16g.2114555C>ACA394387777PKD1c.2468G>T (p.Gly823Val)
c.472+2934G>T
c.1399G>T (n.1399G>T)
c.2522G>T (p.Gly841Val)
c.2450G>T (p.Gly817Val)
c.2396G>T (p.Gly799Val)
c.2315G>T (p.Gly772Val)
c.2258G>T (p.Gly753Val)
c.344G>T (p.Gly115Val)
n.2537G>T
c.-582G>T (n.-582G>T)
 dbSNP
16g.2114555C=CA2202049784PKD1c.2468G= (p.Gly823=)
c.472+2934G=
c.1399G= (n.1399G=)
c.2522G= (p.Gly841=)
c.2450G= (p.Gly817=)
c.2396G= (p.Gly799=)
c.2315G= (p.Gly772=)
c.2258G= (p.Gly753=)
c.344G= (p.Gly115=)
n.2537G=
c.-582G= (n.-582G=)
16g.2114555C>GCA394387779PKD1c.2468G>C (p.Gly823Ala)
c.472+2934G>C
c.1399G>C (n.1399G>C)
c.2522G>C (p.Gly841Ala)
c.2450G>C (p.Gly817Ala)
c.2396G>C (p.Gly799Ala)
c.2315G>C (p.Gly772Ala)
c.2258G>C (p.Gly753Ala)
c.344G>C (p.Gly115Ala)
n.2537G>C
c.-582G>C (n.-582G>C)
16g.2114555C>TCA394387780PKD1c.2468G>A (p.Gly823Glu)
c.472+2934G>A
c.1399G>A (n.1399G>A)
c.2522G>A (p.Gly841Glu)
c.2450G>A (p.Gly817Glu)
c.2396G>A (p.Gly799Glu)
c.2315G>A (p.Gly772Glu)
c.2258G>A (p.Gly753Glu)
c.344G>A (p.Gly115Glu)
n.2537G>A
c.-582G>A (n.-582G>A)
16g.2114556C>ACA394387784PKD1c.2467G>T (p.Gly823Trp)
c.472+2933G>T
c.1398G>T (n.1398G>T)
c.2521G>T (p.Gly841Trp)
c.2449G>T (p.Gly817Trp)
c.2395G>T (p.Gly799Trp)
c.2314G>T (p.Gly772Trp)
c.2257G>T (p.Gly753Trp)
c.343G>T (p.Gly115Trp)
n.2536G>T
c.-583G>T (n.-583G>T)
16g.2114556C=CA2202049785PKD1c.2467G= (p.Gly823=)
c.472+2933G=
c.1398G= (n.1398G=)
c.2521G= (p.Gly841=)
c.2449G= (p.Gly817=)
c.2395G= (p.Gly799=)
c.2314G= (p.Gly772=)
c.2257G= (p.Gly753=)
c.343G= (p.Gly115=)
n.2536G=
c.-583G= (n.-583G=)
16g.2114556C>GCA394387783PKD1c.2467G>C (p.Gly823Arg)
c.472+2933G>C
c.1398G>C (n.1398G>C)
c.2521G>C (p.Gly841Arg)
c.2449G>C (p.Gly817Arg)
c.2395G>C (p.Gly799Arg)
c.2314G>C (p.Gly772Arg)
c.2257G>C (p.Gly753Arg)
c.343G>C (p.Gly115Arg)
n.2536G>C
c.-583G>C (n.-583G>C)
16g.2114556C>TCA394387782PKD1c.2467G>A (p.Gly823Arg)
c.472+2933G>A
c.1398G>A (n.1398G>A)
c.2521G>A (p.Gly841Arg)
c.2449G>A (p.Gly817Arg)
c.2395G>A (p.Gly799Arg)
c.2314G>A (p.Gly772Arg)
c.2257G>A (p.Gly753Arg)
c.343G>A (p.Gly115Arg)
n.2536G>A
c.-583G>A (n.-583G>A)
 dbSNP gnomAD v3 gnomAD v4
16g.2114557A>CCA493049378PKD1c.2466T>G (p.Ala822=)
c.472+2932T>G
c.1397T>G (n.1397T>G)
c.2520T>G (p.Ala840=)
c.2448T>G (p.Ala816=)
c.2394T>G (p.Ala798=)
c.2313T>G (p.Ala771=)
c.2256T>G (p.Ala752=)
c.342T>G (p.Ala114=)
n.2535T>G
c.-584T>G (n.-584T>G)
16g.2114557A>GCA493049379PKD1c.2466T>C (p.Ala822=)
c.472+2932T>C
c.1397T>C (n.1397T>C)
c.2520T>C (p.Ala840=)
c.2448T>C (p.Ala816=)
c.2394T>C (p.Ala798=)
c.2313T>C (p.Ala771=)
c.2256T>C (p.Ala752=)
c.342T>C (p.Ala114=)
n.2535T>C
c.-584T>C (n.-584T>C)
 gnomAD v4
16g.2114557A>TCA493049380PKD1c.2466T>A (p.Ala822=)
c.472+2932T>A
c.1397T>A (n.1397T>A)
c.2520T>A (p.Ala840=)
c.2448T>A (p.Ala816=)
c.2394T>A (p.Ala798=)
c.2313T>A (p.Ala771=)
c.2256T>A (p.Ala752=)
c.342T>A (p.Ala114=)
n.2535T>A
c.-584T>A (n.-584T>A)
16g.2114558G>ACA394387785PKD1c.2465C>T (p.Ala822Val)
c.472+2931C>T
c.1396C>T (n.1396C>T)
c.2519C>T (p.Ala840Val)
c.2447C>T (p.Ala816Val)
c.2393C>T (p.Ala798Val)
c.2312C>T (p.Ala771Val)
c.2255C>T (p.Ala752Val)
c.341C>T (p.Ala114Val)
n.2534C>T
c.-585C>T (n.-585C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2114558G>CCA394387787PKD1c.2465C>G (p.Ala822Gly)
c.472+2931C>G
c.1396C>G (n.1396C>G)
c.2519C>G (p.Ala840Gly)
c.2447C>G (p.Ala816Gly)
c.2393C>G (p.Ala798Gly)
c.2312C>G (p.Ala771Gly)
c.2255C>G (p.Ala752Gly)
c.341C>G (p.Ala114Gly)
n.2534C>G
c.-585C>G (n.-585C>G)
16g.2114558G=CA2202049786PKD1c.2465C= (p.Ala822=)
c.472+2931C=
c.1396C= (n.1396C=)
c.2519C= (p.Ala840=)
c.2447C= (p.Ala816=)
c.2393C= (p.Ala798=)
c.2312C= (p.Ala771=)
c.2255C= (p.Ala752=)
c.341C= (p.Ala114=)
n.2534C=
c.-585C= (n.-585C=)
16g.2114558G>TCA394387786PKD1c.2465C>A (p.Ala822Asp)
c.472+2931C>A
c.1396C>A (n.1396C>A)
c.2519C>A (p.Ala840Asp)
c.2447C>A (p.Ala816Asp)
c.2393C>A (p.Ala798Asp)
c.2312C>A (p.Ala771Asp)
c.2255C>A (p.Ala752Asp)
c.341C>A (p.Ala114Asp)
n.2534C>A
c.-585C>A (n.-585C>A)
16g.2114559C>ACA7833207PKD1c.2464G>T (p.Ala822Ser)
c.472+2930G>T
c.1395G>T (n.1395G>T)
c.2518G>T (p.Ala840Ser)
c.2446G>T (p.Ala816Ser)
c.2392G>T (p.Ala798Ser)
c.2311G>T (p.Ala771Ser)
c.2254G>T (p.Ala752Ser)
c.340G>T (p.Ala114Ser)
n.2533G>T
c.-586G>T (n.-586G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2114559C=CA2202049787PKD1c.2464G= (p.Ala822=)
c.472+2930G=
c.1395G= (n.1395G=)
c.2518G= (p.Ala840=)
c.2446G= (p.Ala816=)
c.2392G= (p.Ala798=)
c.2311G= (p.Ala771=)
c.2254G= (p.Ala752=)
c.340G= (p.Ala114=)
n.2533G=
c.-586G= (n.-586G=)
16g.2114559C>GCA394387788PKD1c.2464G>C (p.Ala822Pro)
c.472+2930G>C
c.1395G>C (n.1395G>C)
c.2518G>C (p.Ala840Pro)
c.2446G>C (p.Ala816Pro)
c.2392G>C (p.Ala798Pro)
c.2311G>C (p.Ala771Pro)
c.2254G>C (p.Ala752Pro)
c.340G>C (p.Ala114Pro)
n.2533G>C
c.-586G>C (n.-586G>C)
16g.2114559C>TCA394387789PKD1c.2464G>A (p.Ala822Thr)
c.472+2930G>A
c.1395G>A (n.1395G>A)
c.2518G>A (p.Ala840Thr)
c.2446G>A (p.Ala816Thr)
c.2392G>A (p.Ala798Thr)
c.2311G>A (p.Ala771Thr)
c.2254G>A (p.Ala752Thr)
c.340G>A (p.Ala114Thr)
n.2533G>A
c.-586G>A (n.-586G>A)
16g.2114560C>ACA493049384PKD1c.2463G>T (p.Val821=)
c.472+2929G>T
c.1394G>T (n.1394G>T)
c.2517G>T (p.Val839=)
c.2445G>T (p.Val815=)
c.2391G>T (p.Val797=)
c.2310G>T (p.Val770=)
c.2253G>T (p.Val751=)
c.339G>T (p.Val113=)
n.2532G>T
c.-587G>T (n.-587G>T)
16g.2114560C>GCA493049385PKD1c.2463G>C (p.Val821=)
c.472+2929G>C
c.1394G>C (n.1394G>C)
c.2517G>C (p.Val839=)
c.2445G>C (p.Val815=)
c.2391G>C (p.Val797=)
c.2310G>C (p.Val770=)
c.2253G>C (p.Val751=)
c.339G>C (p.Val113=)
n.2532G>C
c.-587G>C (n.-587G>C)
16g.2114560C>TCA493049386PKD1c.2463G>A (p.Val821=)
c.472+2929G>A
c.1394G>A (n.1394G>A)
c.2517G>A (p.Val839=)
c.2445G>A (p.Val815=)
c.2391G>A (p.Val797=)
c.2310G>A (p.Val770=)
c.2253G>A (p.Val751=)
c.339G>A (p.Val113=)
n.2532G>A
c.-587G>A (n.-587G>A)
16g.2114561A=CA2202049788PKD1c.2462T= (p.Val821=)
c.472+2928T=
c.1393T= (n.1393T=)
c.2516T= (p.Val839=)
c.2444T= (p.Val815=)
c.2390T= (p.Val797=)
c.2309T= (p.Val770=)
c.2252T= (p.Val751=)
c.338T= (p.Val113=)
n.2531T=
c.-588T= (n.-588T=)
16g.2114561A>CCA394387790PKD1c.2462T>G (p.Val821Gly)
c.472+2928T>G
c.1393T>G (n.1393T>G)
c.2516T>G (p.Val839Gly)
c.2444T>G (p.Val815Gly)
c.2390T>G (p.Val797Gly)
c.2309T>G (p.Val770Gly)
c.2252T>G (p.Val751Gly)
c.338T>G (p.Val113Gly)
n.2531T>G
c.-588T>G (n.-588T>G)
16g.2114561A>GCA7833208PKD1c.2462T>C (p.Val821Ala)
c.472+2928T>C
c.1393T>C (n.1393T>C)
c.2516T>C (p.Val839Ala)
c.2444T>C (p.Val815Ala)
c.2390T>C (p.Val797Ala)
c.2309T>C (p.Val770Ala)
c.2252T>C (p.Val751Ala)
c.338T>C (p.Val113Ala)
n.2531T>C
c.-588T>C (n.-588T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114561A>TCA394387791PKD1c.2462T>A (p.Val821Glu)
c.472+2928T>A
c.1393T>A (n.1393T>A)
c.2516T>A (p.Val839Glu)
c.2444T>A (p.Val815Glu)
c.2390T>A (p.Val797Glu)
c.2309T>A (p.Val770Glu)
c.2252T>A (p.Val751Glu)
c.338T>A (p.Val113Glu)
n.2531T>A
c.-588T>A (n.-588T>A)
16g.2114562C>ACA394387792PKD1c.2461G>T (p.Val821Leu)
c.472+2927G>T
c.1392G>T (n.1392G>T)
c.2515G>T (p.Val839Leu)
c.2443G>T (p.Val815Leu)
c.2389G>T (p.Val797Leu)
c.2308G>T (p.Val770Leu)
c.2251G>T (p.Val751Leu)
c.337G>T (p.Val113Leu)
n.2530G>T
c.-589G>T (n.-589G>T)
16g.2114562C=CA2202049789PKD1c.2461G= (p.Val821=)
c.472+2927G=
c.1392G= (n.1392G=)
c.2515G= (p.Val839=)
c.2443G= (p.Val815=)
c.2389G= (p.Val797=)
c.2308G= (p.Val770=)
c.2251G= (p.Val751=)
c.337G= (p.Val113=)
n.2530G=
c.-589G= (n.-589G=)
16g.2114562C>GCA394387793PKD1c.2461G>C (p.Val821Leu)
c.472+2927G>C
c.1392G>C (n.1392G>C)
c.2515G>C (p.Val839Leu)
c.2443G>C (p.Val815Leu)
c.2389G>C (p.Val797Leu)
c.2308G>C (p.Val770Leu)
c.2251G>C (p.Val751Leu)
c.337G>C (p.Val113Leu)
n.2530G>C
c.-589G>C (n.-589G>C)
 gnomAD v4
16g.2114562C>TCA7833209PKD1c.2461G>A (p.Val821Met)
c.472+2927G>A
c.1392G>A (n.1392G>A)
c.2515G>A (p.Val839Met)
c.2443G>A (p.Val815Met)
c.2389G>A (p.Val797Met)
c.2308G>A (p.Val770Met)
c.2251G>A (p.Val751Met)
c.337G>A (p.Val113Met)
n.2530G>A
c.-589G>A (n.-589G>A)
 dbSNP ExAC gnomAD v2
16g.2114563T>ACA493049389PKD1c.2460A>T (p.Pro820=)
c.472+2926A>T
c.1391A>T (n.1391A>T)
c.2514A>T (p.Pro838=)
c.2442A>T (p.Pro814=)
c.2388A>T (p.Pro796=)
c.2307A>T (p.Pro769=)
c.2250A>T (p.Pro750=)
c.336A>T (p.Pro112=)
n.2529A>T
c.-590A>T (n.-590A>T)
16g.2114563T>CCA493049390PKD1c.2460A>G (p.Pro820=)
c.472+2926A>G
c.1391A>G (n.1391A>G)
c.2514A>G (p.Pro838=)
c.2442A>G (p.Pro814=)
c.2388A>G (p.Pro796=)
c.2307A>G (p.Pro769=)
c.2250A>G (p.Pro750=)
c.336A>G (p.Pro112=)
n.2529A>G
c.-590A>G (n.-590A>G)
16g.2114563T>GCA7833210PKD1c.2460A>C (p.Pro820=)
c.472+2926A>C
c.1391A>C (n.1391A>C)
c.2514A>C (p.Pro838=)
c.2442A>C (p.Pro814=)
c.2388A>C (p.Pro796=)
c.2307A>C (p.Pro769=)
c.2250A>C (p.Pro750=)
c.336A>C (p.Pro112=)
n.2529A>C
c.-590A>C (n.-590A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2114563T=CA2202049790PKD1c.2460A= (p.Pro820=)
c.472+2926A=
c.1391A= (n.1391A=)
c.2514A= (p.Pro838=)
c.2442A= (p.Pro814=)
c.2388A= (p.Pro796=)
c.2307A= (p.Pro769=)
c.2250A= (p.Pro750=)
c.336A= (p.Pro112=)
n.2529A=
c.-590A= (n.-590A=)
16g.2114564G>ACA394387794PKD1c.2459C>T (p.Pro820Leu)
c.472+2925C>T
c.1390C>T (n.1390C>T)
c.2513C>T (p.Pro838Leu)
c.2441C>T (p.Pro814Leu)
c.2387C>T (p.Pro796Leu)
c.2306C>T (p.Pro769Leu)
c.2249C>T (p.Pro750Leu)
c.335C>T (p.Pro112Leu)
n.2528C>T
c.-591C>T (n.-591C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114564G>CCA394387795PKD1c.2459C>G (p.Pro820Arg)
c.472+2925C>G
c.1390C>G (n.1390C>G)
c.2513C>G (p.Pro838Arg)
c.2441C>G (p.Pro814Arg)
c.2387C>G (p.Pro796Arg)
c.2306C>G (p.Pro769Arg)
c.2249C>G (p.Pro750Arg)
c.335C>G (p.Pro112Arg)
n.2528C>G
c.-591C>G (n.-591C>G)
16g.2114564G=CA2202049791PKD1c.2459C= (p.Pro820=)
c.472+2925C=
c.1390C= (n.1390C=)
c.2513C= (p.Pro838=)
c.2441C= (p.Pro814=)
c.2387C= (p.Pro796=)
c.2306C= (p.Pro769=)
c.2249C= (p.Pro750=)
c.335C= (p.Pro112=)
n.2528C=
c.-591C= (n.-591C=)
16g.2114564G>TCA394387796PKD1c.2459C>A (p.Pro820Gln)
c.472+2925C>A
c.1390C>A (n.1390C>A)
c.2513C>A (p.Pro838Gln)
c.2441C>A (p.Pro814Gln)
c.2387C>A (p.Pro796Gln)
c.2306C>A (p.Pro769Gln)
c.2249C>A (p.Pro750Gln)
c.335C>A (p.Pro112Gln)
n.2528C>A
c.-591C>A (n.-591C>A)
16g.2114565G>ACA394387799PKD1c.2458C>T (p.Pro820Ser)
c.472+2924C>T
c.1389C>T (n.1389C>T)
c.2512C>T (p.Pro838Ser)
c.2440C>T (p.Pro814Ser)
c.2386C>T (p.Pro796Ser)
c.2305C>T (p.Pro769Ser)
c.2248C>T (p.Pro750Ser)
c.334C>T (p.Pro112Ser)
n.2527C>T
c.-592C>T (n.-592C>T)
16g.2114565G>CCA394387797PKD1c.2458C>G (p.Pro820Ala)
c.472+2924C>G
c.1389C>G (n.1389C>G)
c.2512C>G (p.Pro838Ala)
c.2440C>G (p.Pro814Ala)
c.2386C>G (p.Pro796Ala)
c.2305C>G (p.Pro769Ala)
c.2248C>G (p.Pro750Ala)
c.334C>G (p.Pro112Ala)
n.2527C>G
c.-592C>G (n.-592C>G)
 gnomAD v4
16g.2114565G>TCA394387798PKD1c.2458C>A (p.Pro820Thr)
c.472+2924C>A
c.1389C>A (n.1389C>A)
c.2512C>A (p.Pro838Thr)
c.2440C>A (p.Pro814Thr)
c.2386C>A (p.Pro796Thr)
c.2305C>A (p.Pro769Thr)
c.2248C>A (p.Pro750Thr)
c.334C>A (p.Pro112Thr)
n.2527C>A
c.-592C>A (n.-592C>A)
16g.2114566G>ACA493049395PKD1c.2457C>T (p.Ser819=)
c.472+2923C>T
c.1388C>T (n.1388C>T)
c.2511C>T (p.Ser837=)
c.2439C>T (p.Ser813=)
c.2385C>T (p.Ser795=)
c.2304C>T (p.Ser768=)
c.2247C>T (p.Ser749=)
c.333C>T (p.Ser111=)
n.2526C>T
c.-593C>T (n.-593C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2114566G>CCA493049396PKD1c.2457C>G (p.Ser819=)
c.472+2923C>G
c.1388C>G (n.1388C>G)
c.2511C>G (p.Ser837=)
c.2439C>G (p.Ser813=)
c.2385C>G (p.Ser795=)
c.2304C>G (p.Ser768=)
c.2247C>G (p.Ser749=)
c.333C>G (p.Ser111=)
n.2526C>G
c.-593C>G (n.-593C>G)
16g.2114566G=CA2202049792PKD1c.2457C= (p.Ser819=)
c.472+2923C=
c.1388C= (n.1388C=)
c.2511C= (p.Ser837=)
c.2439C= (p.Ser813=)
c.2385C= (p.Ser795=)
c.2304C= (p.Ser768=)
c.2247C= (p.Ser749=)
c.333C= (p.Ser111=)
n.2526C=
c.-593C= (n.-593C=)
16g.2114566G>TCA493049398PKD1c.2457C>A (p.Ser819=)
c.472+2923C>A
c.1388C>A (n.1388C>A)
c.2511C>A (p.Ser837=)
c.2439C>A (p.Ser813=)
c.2385C>A (p.Ser795=)
c.2304C>A (p.Ser768=)
c.2247C>A (p.Ser749=)
c.333C>A (p.Ser111=)
n.2526C>A
c.-593C>A (n.-593C>A)
 gnomAD v4
16g.2114567G>ACA394387800PKD1c.2456C>T (p.Ser819Phe)
c.472+2922C>T
c.1387C>T (n.1387C>T)
c.2510C>T (p.Ser837Phe)
c.2438C>T (p.Ser813Phe)
c.2384C>T (p.Ser795Phe)
c.2303C>T (p.Ser768Phe)
c.2246C>T (p.Ser749Phe)
c.332C>T (p.Ser111Phe)
n.2525C>T
c.-594C>T (n.-594C>T)
16g.2114567G>CCA394387801PKD1c.2456C>G (p.Ser819Cys)
c.472+2922C>G
c.1387C>G (n.1387C>G)
c.2510C>G (p.Ser837Cys)
c.2438C>G (p.Ser813Cys)
c.2384C>G (p.Ser795Cys)
c.2303C>G (p.Ser768Cys)
c.2246C>G (p.Ser749Cys)
c.332C>G (p.Ser111Cys)
n.2525C>G
c.-594C>G (n.-594C>G)
16g.2114567G>TCA394387802PKD1c.2456C>A (p.Ser819Tyr)
c.472+2922C>A
c.1387C>A (n.1387C>A)
c.2510C>A (p.Ser837Tyr)
c.2438C>A (p.Ser813Tyr)
c.2384C>A (p.Ser795Tyr)
c.2303C>A (p.Ser768Tyr)
c.2246C>A (p.Ser749Tyr)
c.332C>A (p.Ser111Tyr)
n.2525C>A
c.-594C>A (n.-594C>A)
16g.2114568A>CCA394387803PKD1c.2455T>G (p.Ser819Ala)
c.472+2921T>G
c.1386T>G (n.1386T>G)
c.2509T>G (p.Ser837Ala)
c.2437T>G (p.Ser813Ala)
c.2383T>G (p.Ser795Ala)
c.2302T>G (p.Ser768Ala)
c.2245T>G (p.Ser749Ala)
c.331T>G (p.Ser111Ala)
n.2524T>G
c.-595T>G (n.-595T>G)
16g.2114568A>GCA394387804PKD1c.2455T>C (p.Ser819Pro)
c.472+2921T>C
c.1386T>C (n.1386T>C)
c.2509T>C (p.Ser837Pro)
c.2437T>C (p.Ser813Pro)
c.2383T>C (p.Ser795Pro)
c.2302T>C (p.Ser768Pro)
c.2245T>C (p.Ser749Pro)
c.331T>C (p.Ser111Pro)
n.2524T>C
c.-595T>C (n.-595T>C)
16g.2114568A>TCA394387805PKD1c.2455T>A (p.Ser819Thr)
c.472+2921T>A
c.1386T>A (n.1386T>A)
c.2509T>A (p.Ser837Thr)
c.2437T>A (p.Ser813Thr)
c.2383T>A (p.Ser795Thr)
c.2302T>A (p.Ser768Thr)
c.2245T>A (p.Ser749Thr)
c.331T>A (p.Ser111Thr)
n.2524T>A
c.-595T>A (n.-595T>A)
16g.2114569G>ACA493049403PKD1c.2454C>T (p.Val818=)
c.472+2920C>T
c.1385C>T (n.1385C>T)
c.2508C>T (p.Val836=)
c.2436C>T (p.Val812=)
c.2382C>T (p.Val794=)
c.2301C>T (p.Val767=)
c.2244C>T (p.Val748=)
c.330C>T (p.Val110=)
n.2523C>T
c.-596C>T (n.-596C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114569G>CCA493049405PKD1c.2454C>G (p.Val818=)
c.472+2920C>G
c.1385C>G (n.1385C>G)
c.2508C>G (p.Val836=)
c.2436C>G (p.Val812=)
c.2382C>G (p.Val794=)
c.2301C>G (p.Val767=)
c.2244C>G (p.Val748=)
c.330C>G (p.Val110=)
n.2523C>G
c.-596C>G (n.-596C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114569G=CA2202049793PKD1c.2454C= (p.Val818=)
c.472+2920C=
c.1385C= (n.1385C=)
c.2508C= (p.Val836=)
c.2436C= (p.Val812=)
c.2382C= (p.Val794=)
c.2301C= (p.Val767=)
c.2244C= (p.Val748=)
c.330C= (p.Val110=)
n.2523C=
c.-596C= (n.-596C=)
16g.2114569G>TCA493049407PKD1c.2454C>A (p.Val818=)
c.472+2920C>A
c.1385C>A (n.1385C>A)
c.2508C>A (p.Val836=)
c.2436C>A (p.Val812=)
c.2382C>A (p.Val794=)
c.2301C>A (p.Val767=)
c.2244C>A (p.Val748=)
c.330C>A (p.Val110=)
n.2523C>A
c.-596C>A (n.-596C>A)
 gnomAD v4
16g.2114570A=CA2202049794PKD1c.2453T= (p.Val818=)
c.472+2919T=
c.1384T= (n.1384T=)
c.2507T= (p.Val836=)
c.2435T= (p.Val812=)
c.2381T= (p.Val794=)
c.2300T= (p.Val767=)
c.2243T= (p.Val748=)
c.329T= (p.Val110=)
n.2522T=
c.-597T= (n.-597T=)
16g.2114570A>CCA7833211PKD1c.2453T>G (p.Val818Gly)
c.472+2919T>G
c.1384T>G (n.1384T>G)
c.2507T>G (p.Val836Gly)
c.2435T>G (p.Val812Gly)
c.2381T>G (p.Val794Gly)
c.2300T>G (p.Val767Gly)
c.2243T>G (p.Val748Gly)
c.329T>G (p.Val110Gly)
n.2522T>G
c.-597T>G (n.-597T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2114570A>GCA394387806PKD1c.2453T>C (p.Val818Ala)
c.472+2919T>C
c.1384T>C (n.1384T>C)
c.2507T>C (p.Val836Ala)
c.2435T>C (p.Val812Ala)
c.2381T>C (p.Val794Ala)
c.2300T>C (p.Val767Ala)
c.2243T>C (p.Val748Ala)
c.329T>C (p.Val110Ala)
n.2522T>C
c.-597T>C (n.-597T>C)
16g.2114570A>TCA394387807PKD1c.2453T>A (p.Val818Asp)
c.472+2919T>A
c.1384T>A (n.1384T>A)
c.2507T>A (p.Val836Asp)
c.2435T>A (p.Val812Asp)
c.2381T>A (p.Val794Asp)
c.2300T>A (p.Val767Asp)
c.2243T>A (p.Val748Asp)
c.329T>A (p.Val110Asp)
n.2522T>A
c.-597T>A (n.-597T>A)
 dbSNP gnomAD v4
16g.2114572_2114574delCA2631142023PKD1c.2451_2453del (p.Val818del)
c.472+2917_472+2919del
c.1382_1384del (n.1382_1384del)
c.2505_2507del (p.Val836del)
c.2433_2435del (p.Val812del)
c.2379_2381del (p.Val794del)
c.2298_2300del (p.Val767del)
c.2241_2243del (p.Val748del)
c.327_329del (p.Val110del)
n.2520_2522del
c.-599_-597del (n.-599_-597del)
 gnomAD v4
16g.2114571C>ACA394387808PKD1c.2452G>T (p.Val818Phe)
c.472+2918G>T
c.1383G>T (n.1383G>T)
c.2506G>T (p.Val836Phe)
c.2434G>T (p.Val812Phe)
c.2380G>T (p.Val794Phe)
c.2299G>T (p.Val767Phe)
c.2242G>T (p.Val748Phe)
c.328G>T (p.Val110Phe)
n.2521G>T
c.-598G>T (n.-598G>T)
16g.2114571C=CA2202049795PKD1c.2452G= (p.Val818=)
c.472+2918G=
c.1383G= (n.1383G=)
c.2506G= (p.Val836=)
c.2434G= (p.Val812=)
c.2380G= (p.Val794=)
c.2299G= (p.Val767=)
c.2242G= (p.Val748=)
c.328G= (p.Val110=)
n.2521G=
c.-598G= (n.-598G=)
16g.2114571C>GCA394387809PKD1c.2452G>C (p.Val818Leu)
c.472+2918G>C
c.1383G>C (n.1383G>C)
c.2506G>C (p.Val836Leu)
c.2434G>C (p.Val812Leu)
c.2380G>C (p.Val794Leu)
c.2299G>C (p.Val767Leu)
c.2242G>C (p.Val748Leu)
c.328G>C (p.Val110Leu)
n.2521G>C
c.-598G>C (n.-598G>C)
 ClinVar dbSNP gnomAD v4
16g.2114571C>TCA394387810PKD1c.2452G>A (p.Val818Ile)
c.472+2918G>A
c.1383G>A (n.1383G>A)
c.2506G>A (p.Val836Ile)
c.2434G>A (p.Val812Ile)
c.2380G>A (p.Val794Ile)
c.2299G>A (p.Val767Ile)
c.2242G>A (p.Val748Ile)
c.328G>A (p.Val110Ile)
n.2521G>A
c.-598G>A (n.-598G>A)
16g.2114572delCA2695222561PKD1c.2452del (p.Val818SerfsTer?)
c.472+2918del
c.1383del (n.1383del)
c.2506del (p.Val836SerfsTer?)
c.2434del (p.Val812SerfsTer?)
c.2380del (p.Val794SerfsTer?)
c.2299del (p.Val767SerfsTer?)
c.2242del (p.Val748SerfsTer?)
c.328del (p.Val110SerfsTer?)
n.2521del
c.-598del (n.-598del)
16g.2114572C>ACA493049415PKD1c.2451G>T (p.Val817=)
c.472+2917G>T
c.1382G>T (n.1382G>T)
c.2505G>T (p.Val835=)
c.2433G>T (p.Val811=)
c.2379G>T (p.Val793=)
c.2298G>T (p.Val766=)
c.2241G>T (p.Val747=)
c.327G>T (p.Val109=)
n.2520G>T
c.-599G>T (n.-599G>T)
 dbSNP gnomAD v2 gnomAD v4
16g.2114572C=CA2202049796PKD1c.2451G= (p.Val817=)
c.472+2917G=
c.1382G= (n.1382G=)
c.2505G= (p.Val835=)
c.2433G= (p.Val811=)
c.2379G= (p.Val793=)
c.2298G= (p.Val766=)
c.2241G= (p.Val747=)
c.327G= (p.Val109=)
n.2520G=
c.-599G= (n.-599G=)
16g.2114572C>GCA493049417PKD1c.2451G>C (p.Val817=)
c.472+2917G>C
c.1382G>C (n.1382G>C)
c.2505G>C (p.Val835=)
c.2433G>C (p.Val811=)
c.2379G>C (p.Val793=)
c.2298G>C (p.Val766=)
c.2241G>C (p.Val747=)
c.327G>C (p.Val109=)
n.2520G>C
c.-599G>C (n.-599G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114572C>TCA493049414PKD1c.2451G>A (p.Val817=)
c.472+2917G>A
c.1382G>A (n.1382G>A)
c.2505G>A (p.Val835=)
c.2433G>A (p.Val811=)
c.2379G>A (p.Val793=)
c.2298G>A (p.Val766=)
c.2241G>A (p.Val747=)
c.327G>A (p.Val109=)
n.2520G>A
c.-599G>A (n.-599G>A)
 dbSNP gnomAD v2
16g.2114573A>CCA394387811PKD1c.2450T>G (p.Val817Gly)
c.472+2916T>G
c.1381T>G (n.1381T>G)
c.2504T>G (p.Val835Gly)
c.2432T>G (p.Val811Gly)
c.2378T>G (p.Val793Gly)
c.2297T>G (p.Val766Gly)
c.2240T>G (p.Val747Gly)
c.326T>G (p.Val109Gly)
n.2519T>G
c.-600T>G (n.-600T>G)
16g.2114573A>GCA394387813PKD1c.2450T>C (p.Val817Ala)
c.472+2916T>C
c.1381T>C (n.1381T>C)
c.2504T>C (p.Val835Ala)
c.2432T>C (p.Val811Ala)
c.2378T>C (p.Val793Ala)
c.2297T>C (p.Val766Ala)
c.2240T>C (p.Val747Ala)
c.326T>C (p.Val109Ala)
n.2519T>C
c.-600T>C (n.-600T>C)
 gnomAD v4
16g.2114573A>TCA394387812PKD1c.2450T>A (p.Val817Glu)
c.472+2916T>A
c.1381T>A (n.1381T>A)
c.2504T>A (p.Val835Glu)
c.2432T>A (p.Val811Glu)
c.2378T>A (p.Val793Glu)
c.2297T>A (p.Val766Glu)
c.2240T>A (p.Val747Glu)
c.326T>A (p.Val109Glu)
n.2519T>A
c.-600T>A (n.-600T>A)
16g.2114574C>ACA394387814PKD1c.2449G>T (p.Val817Leu)
c.472+2915G>T
c.1380G>T (n.1380G>T)
c.2503G>T (p.Val835Leu)
c.2431G>T (p.Val811Leu)
c.2377G>T (p.Val793Leu)
c.2296G>T (p.Val766Leu)
c.2239G>T (p.Val747Leu)
c.325G>T (p.Val109Leu)
n.2518G>T
c.-601G>T (n.-601G>T)
 dbSNP gnomAD v3 gnomAD v4
16g.2114574C=CA2202049797PKD1c.2449G= (p.Val817=)
c.472+2915G=
c.1380G= (n.1380G=)
c.2503G= (p.Val835=)
c.2431G= (p.Val811=)
c.2377G= (p.Val793=)
c.2296G= (p.Val766=)
c.2239G= (p.Val747=)
c.325G= (p.Val109=)
n.2518G=
c.-601G= (n.-601G=)
16g.2114574C>GCA394387815PKD1c.2449G>C (p.Val817Leu)
c.472+2915G>C
c.1380G>C (n.1380G>C)
c.2503G>C (p.Val835Leu)
c.2431G>C (p.Val811Leu)
c.2377G>C (p.Val793Leu)
c.2296G>C (p.Val766Leu)
c.2239G>C (p.Val747Leu)
c.325G>C (p.Val109Leu)
n.2518G>C
c.-601G>C (n.-601G>C)
 dbSNP gnomAD v2 gnomAD v4
16g.2114574C>TCA394387816PKD1c.2449G>A (p.Val817Met)
c.472+2915G>A
c.1380G>A (n.1380G>A)
c.2503G>A (p.Val835Met)
c.2431G>A (p.Val811Met)
c.2377G>A (p.Val793Met)
c.2296G>A (p.Val766Met)
c.2239G>A (p.Val747Met)
c.325G>A (p.Val109Met)
n.2518G>A
c.-601G>A (n.-601G>A)
 dbSNP gnomAD v2 gnomAD v4
16g.2114575G>ACA7833212PKD1c.2448C>T (p.Asp816=)
c.472+2914C>T
c.1379C>T (n.1379C>T)
c.2502C>T (p.Asp834=)
c.2430C>T (p.Asp810=)
c.2376C>T (p.Asp792=)
c.2295C>T (p.Asp765=)
c.2238C>T (p.Asp746=)
c.324C>T (p.Asp108=)
n.2517C>T
c.-602C>T (n.-602C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114575G>CCA394387817PKD1c.2448C>G (p.Asp816Glu)
c.472+2914C>G
c.1379C>G (n.1379C>G)
c.2502C>G (p.Asp834Glu)
c.2430C>G (p.Asp810Glu)
c.2376C>G (p.Asp792Glu)
c.2295C>G (p.Asp765Glu)
c.2238C>G (p.Asp746Glu)
c.324C>G (p.Asp108Glu)
n.2517C>G
c.-602C>G (n.-602C>G)
16g.2114575G=CA2202049798PKD1c.2448C= (p.Asp816=)
c.472+2914C=
c.1379C= (n.1379C=)
c.2502C= (p.Asp834=)
c.2430C= (p.Asp810=)
c.2376C= (p.Asp792=)
c.2295C= (p.Asp765=)
c.2238C= (p.Asp746=)
c.324C= (p.Asp108=)
n.2517C=
c.-602C= (n.-602C=)
16g.2114575G>TCA394387818PKD1c.2448C>A (p.Asp816Glu)
c.472+2914C>A
c.1379C>A (n.1379C>A)
c.2502C>A (p.Asp834Glu)
c.2430C>A (p.Asp810Glu)
c.2376C>A (p.Asp792Glu)
c.2295C>A (p.Asp765Glu)
c.2238C>A (p.Asp746Glu)
c.324C>A (p.Asp108Glu)
n.2517C>A
c.-602C>A (n.-602C>A)
16g.2114576T>ACA394387819PKD1c.2447A>T (p.Asp816Val)
c.472+2913A>T
c.1378A>T (n.1378A>T)
c.2501A>T (p.Asp834Val)
c.2429A>T (p.Asp810Val)
c.2375A>T (p.Asp792Val)
c.2294A>T (p.Asp765Val)
c.2237A>T (p.Asp746Val)
c.323A>T (p.Asp108Val)
n.2516A>T
c.-603A>T (n.-603A>T)
16g.2114576T>CCA394387820PKD1c.2447A>G (p.Asp816Gly)
c.472+2913A>G
c.1378A>G (n.1378A>G)
c.2501A>G (p.Asp834Gly)
c.2429A>G (p.Asp810Gly)
c.2375A>G (p.Asp792Gly)
c.2294A>G (p.Asp765Gly)
c.2237A>G (p.Asp746Gly)
c.323A>G (p.Asp108Gly)
n.2516A>G
c.-603A>G (n.-603A>G)
16g.2114576T>GCA394387821PKD1c.2447A>C (p.Asp816Ala)
c.472+2913A>C
c.1378A>C (n.1378A>C)
c.2501A>C (p.Asp834Ala)
c.2429A>C (p.Asp810Ala)
c.2375A>C (p.Asp792Ala)
c.2294A>C (p.Asp765Ala)
c.2237A>C (p.Asp746Ala)
c.323A>C (p.Asp108Ala)
n.2516A>C
c.-603A>C (n.-603A>C)
16g.2114577C>ACA394387822PKD1c.2446G>T (p.Asp816Tyr)
c.472+2912G>T
c.1377G>T (n.1377G>T)
c.2500G>T (p.Asp834Tyr)
c.2428G>T (p.Asp810Tyr)
c.2374G>T (p.Asp792Tyr)
c.2293G>T (p.Asp765Tyr)
c.2236G>T (p.Asp746Tyr)
c.322G>T (p.Asp108Tyr)
n.2515G>T
c.-604G>T (n.-604G>T)
16g.2114577C>GCA394387823PKD1c.2446G>C (p.Asp816His)
c.472+2912G>C
c.1377G>C (n.1377G>C)
c.2500G>C (p.Asp834His)
c.2428G>C (p.Asp810His)
c.2374G>C (p.Asp792His)
c.2293G>C (p.Asp765His)
c.2236G>C (p.Asp746His)
c.322G>C (p.Asp108His)
n.2515G>C
c.-604G>C (n.-604G>C)
16g.2114577C>TCA394387824PKD1c.2446G>A (p.Asp816Asn)
c.472+2912G>A
c.1377G>A (n.1377G>A)
c.2500G>A (p.Asp834Asn)
c.2428G>A (p.Asp810Asn)
c.2374G>A (p.Asp792Asn)
c.2293G>A (p.Asp765Asn)
c.2236G>A (p.Asp746Asn)
c.322G>A (p.Asp108Asn)
n.2515G>A
c.-604G>A (n.-604G>A)
 gnomAD v4
16g.2114578A=CA2202049799PKD1c.2445T= (p.Phe815=)
c.472+2911T=
c.1376T= (n.1376T=)
c.2499T= (p.Phe833=)
c.2427T= (p.Phe809=)
c.2373T= (p.Phe791=)
c.2292T= (p.Phe764=)
c.2235T= (p.Phe745=)
c.321T= (p.Phe107=)
n.2514T=
c.-605T= (n.-605T=)
16g.2114578A>CCA394387826PKD1c.2445T>G (p.Phe815Leu)
c.472+2911T>G
c.1376T>G (n.1376T>G)
c.2499T>G (p.Phe833Leu)
c.2427T>G (p.Phe809Leu)
c.2373T>G (p.Phe791Leu)
c.2292T>G (p.Phe764Leu)
c.2235T>G (p.Phe745Leu)
c.321T>G (p.Phe107Leu)
n.2514T>G
c.-605T>G (n.-605T>G)
16g.2114578A>GCA7833213PKD1c.2445T>C (p.Phe815=)
c.472+2911T>C
c.1376T>C (n.1376T>C)
c.2499T>C (p.Phe833=)
c.2427T>C (p.Phe809=)
c.2373T>C (p.Phe791=)
c.2292T>C (p.Phe764=)
c.2235T>C (p.Phe745=)
c.321T>C (p.Phe107=)
n.2514T>C
c.-605T>C (n.-605T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114578A>TCA394387825PKD1c.2445T>A (p.Phe815Leu)
c.472+2911T>A
c.1376T>A (n.1376T>A)
c.2499T>A (p.Phe833Leu)
c.2427T>A (p.Phe809Leu)
c.2373T>A (p.Phe791Leu)
c.2292T>A (p.Phe764Leu)
c.2235T>A (p.Phe745Leu)
c.321T>A (p.Phe107Leu)
n.2514T>A
c.-605T>A (n.-605T>A)
16g.2114580delCA2631142024PKD1c.2445del (p.Phe815LeufsTer?)
c.472+2911del
c.1376del (n.1376del)
c.2499del (p.Phe833LeufsTer?)
c.2427del (p.Phe809LeufsTer?)
c.2373del (p.Phe791LeufsTer?)
c.2292del (p.Phe764LeufsTer?)
c.2235del (p.Phe745LeufsTer?)
c.321del (p.Phe107LeufsTer?)
n.2514del
c.-605del (n.-605del)
 gnomAD v4
16g.2114579_2114580delCA2695222562PKD1c.2444_2445del (p.Phe815Ter)
c.472+2910_472+2911del
c.1375_1376del (n.1375_1376del)
c.2498_2499del (p.Phe833Ter)
c.2426_2427del (p.Phe809Ter)
c.2372_2373del (p.Phe791Ter)
c.2291_2292del (p.Phe764Ter)
c.2234_2235del (p.Phe745Ter)
c.320_321del (p.Phe107Ter)
n.2513_2514del
c.-606_-605del (n.-606_-605del)
16g.2114579A=CA2202049800PKD1c.2444T= (p.Phe815=)
c.472+2910T=
c.1375T= (n.1375T=)
c.2498T= (p.Phe833=)
c.2426T= (p.Phe809=)
c.2372T= (p.Phe791=)
c.2291T= (p.Phe764=)
c.2234T= (p.Phe745=)
c.320T= (p.Phe107=)
n.2513T=
c.-606T= (n.-606T=)
16g.2114579A>CCA394387827PKD1c.2444T>G (p.Phe815Cys)
c.472+2910T>G
c.1375T>G (n.1375T>G)
c.2498T>G (p.Phe833Cys)
c.2426T>G (p.Phe809Cys)
c.2372T>G (p.Phe791Cys)
c.2291T>G (p.Phe764Cys)
c.2234T>G (p.Phe745Cys)
c.320T>G (p.Phe107Cys)
n.2513T>G
c.-606T>G (n.-606T>G)
16g.2114579A>GCA394387828PKD1c.2444T>C (p.Phe815Ser)
c.472+2910T>C
c.1375T>C (n.1375T>C)
c.2498T>C (p.Phe833Ser)
c.2426T>C (p.Phe809Ser)
c.2372T>C (p.Phe791Ser)
c.2291T>C (p.Phe764Ser)
c.2234T>C (p.Phe745Ser)
c.320T>C (p.Phe107Ser)
n.2513T>C
c.-606T>C (n.-606T>C)
 ClinVar dbSNP
16g.2114579A>TCA394387829PKD1c.2444T>A (p.Phe815Tyr)
c.472+2910T>A
c.1375T>A (n.1375T>A)
c.2498T>A (p.Phe833Tyr)
c.2426T>A (p.Phe809Tyr)
c.2372T>A (p.Phe791Tyr)
c.2291T>A (p.Phe764Tyr)
c.2234T>A (p.Phe745Tyr)
c.320T>A (p.Phe107Tyr)
n.2513T>A
c.-606T>A (n.-606T>A)
16g.2114580A>CCA394387830PKD1c.2443T>G (p.Phe815Val)
c.472+2909T>G
c.1374T>G (n.1374T>G)
c.2497T>G (p.Phe833Val)
c.2425T>G (p.Phe809Val)
c.2371T>G (p.Phe791Val)
c.2290T>G (p.Phe764Val)
c.2233T>G (p.Phe745Val)
c.319T>G (p.Phe107Val)
n.2512T>G
c.-607T>G (n.-607T>G)
16g.2114580A>GCA394387831PKD1c.2443T>C (p.Phe815Leu)
c.472+2909T>C
c.1374T>C (n.1374T>C)
c.2497T>C (p.Phe833Leu)
c.2425T>C (p.Phe809Leu)
c.2371T>C (p.Phe791Leu)
c.2290T>C (p.Phe764Leu)
c.2233T>C (p.Phe745Leu)
c.319T>C (p.Phe107Leu)
n.2512T>C
c.-607T>C (n.-607T>C)
16g.2114580A>TCA394387832PKD1c.2443T>A (p.Phe815Ile)
c.472+2909T>A
c.1374T>A (n.1374T>A)
c.2497T>A (p.Phe833Ile)
c.2425T>A (p.Phe809Ile)
c.2371T>A (p.Phe791Ile)
c.2290T>A (p.Phe764Ile)
c.2233T>A (p.Phe745Ile)
c.319T>A (p.Phe107Ile)
n.2512T>A
c.-607T>A (n.-607T>A)
 gnomAD v4
16g.2114581G>ACA493049437PKD1c.2442C>T (p.Ser814=)
c.472+2908C>T
c.1373C>T (n.1373C>T)
c.2496C>T (p.Ser832=)
c.2424C>T (p.Ser808=)
c.2370C>T (p.Ser790=)
c.2289C>T (p.Ser763=)
c.2232C>T (p.Ser744=)
c.318C>T (p.Ser106=)
n.2511C>T
c.-608C>T (n.-608C>T)
16g.2114581G>CCA394387833PKD1c.2442C>G (p.Ser814Arg)
c.472+2908C>G
c.1373C>G (n.1373C>G)
c.2496C>G (p.Ser832Arg)
c.2424C>G (p.Ser808Arg)
c.2370C>G (p.Ser790Arg)
c.2289C>G (p.Ser763Arg)
c.2232C>G (p.Ser744Arg)
c.318C>G (p.Ser106Arg)
n.2511C>G
c.-608C>G (n.-608C>G)
 gnomAD v4
16g.2114581G>TCA394387834PKD1c.2442C>A (p.Ser814Arg)
c.472+2908C>A
c.1373C>A (n.1373C>A)
c.2496C>A (p.Ser832Arg)
c.2424C>A (p.Ser808Arg)
c.2370C>A (p.Ser790Arg)
c.2289C>A (p.Ser763Arg)
c.2232C>A (p.Ser744Arg)
c.318C>A (p.Ser106Arg)
n.2511C>A
c.-608C>A (n.-608C>A)
16g.2114582C>ACA394387835PKD1c.2441G>T (p.Ser814Ile)
c.472+2907G>T
c.1372G>T (n.1372G>T)
c.2495G>T (p.Ser832Ile)
c.2423G>T (p.Ser808Ile)
c.2369G>T (p.Ser790Ile)
c.2288G>T (p.Ser763Ile)
c.2231G>T (p.Ser744Ile)
c.317G>T (p.Ser106Ile)
n.2510G>T
c.-609G>T (n.-609G>T)
 gnomAD v4
16g.2114582C=CA2202049801PKD1c.2441G= (p.Ser814=)
c.472+2907G=
c.1372G= (n.1372G=)
c.2495G= (p.Ser832=)
c.2423G= (p.Ser808=)
c.2369G= (p.Ser790=)
c.2288G= (p.Ser763=)
c.2231G= (p.Ser744=)
c.317G= (p.Ser106=)
n.2510G=
c.-609G= (n.-609G=)
16g.2114582C>GCA7833214PKD1c.2441G>C (p.Ser814Thr)
c.472+2907G>C
c.1372G>C (n.1372G>C)
c.2495G>C (p.Ser832Thr)
c.2423G>C (p.Ser808Thr)
c.2369G>C (p.Ser790Thr)
c.2288G>C (p.Ser763Thr)
c.2231G>C (p.Ser744Thr)
c.317G>C (p.Ser106Thr)
n.2510G>C
c.-609G>C (n.-609G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114582C>TCA394387836PKD1c.2441G>A (p.Ser814Asn)
c.472+2907G>A
c.1372G>A (n.1372G>A)
c.2495G>A (p.Ser832Asn)
c.2423G>A (p.Ser808Asn)
c.2369G>A (p.Ser790Asn)
c.2288G>A (p.Ser763Asn)
c.2231G>A (p.Ser744Asn)
c.317G>A (p.Ser106Asn)
n.2510G>A
c.-609G>A (n.-609G>A)
 gnomAD v4
16g.2114583T>ACA394387838PKD1c.2440A>T (p.Ser814Cys)
c.472+2906A>T
c.1371A>T (n.1371A>T)
c.2494A>T (p.Ser832Cys)
c.2422A>T (p.Ser808Cys)
c.2368A>T (p.Ser790Cys)
c.2287A>T (p.Ser763Cys)
c.2230A>T (p.Ser744Cys)
c.316A>T (p.Ser106Cys)
n.2509A>T
c.-610A>T (n.-610A>T)
16g.2114583T>CCA394387839PKD1c.2440A>G (p.Ser814Gly)
c.472+2906A>G
c.1371A>G (n.1371A>G)
c.2494A>G (p.Ser832Gly)
c.2422A>G (p.Ser808Gly)
c.2368A>G (p.Ser790Gly)
c.2287A>G (p.Ser763Gly)
c.2230A>G (p.Ser744Gly)
c.316A>G (p.Ser106Gly)
n.2509A>G
c.-610A>G (n.-610A>G)
16g.2114583T>GCA394387837PKD1c.2440A>C (p.Ser814Arg)
c.472+2906A>C
c.1371A>C (n.1371A>C)
c.2494A>C (p.Ser832Arg)
c.2422A>C (p.Ser808Arg)
c.2368A>C (p.Ser790Arg)
c.2287A>C (p.Ser763Arg)
c.2230A>C (p.Ser744Arg)
c.316A>C (p.Ser106Arg)
n.2509A>C
c.-610A>C (n.-610A>C)
16g.2114584G>ACA7833215PKD1c.2439C>T (p.Cys813=)
c.472+2905C>T
c.1370C>T (n.1370C>T)
c.2493C>T (p.Cys831=)
c.2421C>T (p.Cys807=)
c.2367C>T (p.Cys789=)
c.2286C>T (p.Cys762=)
c.2229C>T (p.Cys743=)
c.315C>T (p.Cys105=)
n.2508C>T
c.-611C>T (n.-611C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2114584G>CCA394387840PKD1c.2439C>G (p.Cys813Trp)
c.472+2905C>G
c.1370C>G (n.1370C>G)
c.2493C>G (p.Cys831Trp)
c.2421C>G (p.Cys807Trp)
c.2367C>G (p.Cys789Trp)
c.2286C>G (p.Cys762Trp)
c.2229C>G (p.Cys743Trp)
c.315C>G (p.Cys105Trp)
n.2508C>G
c.-611C>G (n.-611C>G)
16g.2114584G=CA2202049802PKD1c.2439C= (p.Cys813=)
c.472+2905C=
c.1370C= (n.1370C=)
c.2493C= (p.Cys831=)
c.2421C= (p.Cys807=)
c.2367C= (p.Cys789=)
c.2286C= (p.Cys762=)
c.2229C= (p.Cys743=)
c.315C= (p.Cys105=)
n.2508C=
c.-611C= (n.-611C=)
16g.2114584G>TCA394387841PKD1c.2439C>A (p.Cys813Ter)
c.472+2905C>A
c.1370C>A (n.1370C>A)
c.2493C>A (p.Cys831Ter)
c.2421C>A (p.Cys807Ter)
c.2367C>A (p.Cys789Ter)
c.2286C>A (p.Cys762Ter)
c.2229C>A (p.Cys743Ter)
c.315C>A (p.Cys105Ter)
n.2508C>A
c.-611C>A (n.-611C>A)
 ClinVar dbSNP
16g.2114585C>ACA394387842PKD1c.2438G>T (p.Cys813Phe)
c.472+2904G>T
c.1369G>T (n.1369G>T)
c.2492G>T (p.Cys831Phe)
c.2420G>T (p.Cys807Phe)
c.2366G>T (p.Cys789Phe)
c.2285G>T (p.Cys762Phe)
c.2228G>T (p.Cys743Phe)
c.314G>T (p.Cys105Phe)
n.2507G>T
c.-612G>T (n.-612G>T)
 ClinVar dbSNP gnomAD v4
16g.2114585C=CA2202049803PKD1c.2438G= (p.Cys813=)
c.472+2904G=
c.1369G= (n.1369G=)
c.2492G= (p.Cys831=)
c.2420G= (p.Cys807=)
c.2366G= (p.Cys789=)
c.2285G= (p.Cys762=)
c.2228G= (p.Cys743=)
c.314G= (p.Cys105=)
n.2507G=
c.-612G= (n.-612G=)
16g.2114585C>GCA394387843PKD1c.2438G>C (p.Cys813Ser)
c.472+2904G>C
c.1369G>C (n.1369G>C)
c.2492G>C (p.Cys831Ser)
c.2420G>C (p.Cys807Ser)
c.2366G>C (p.Cys789Ser)
c.2285G>C (p.Cys762Ser)
c.2228G>C (p.Cys743Ser)
c.314G>C (p.Cys105Ser)
n.2507G>C
c.-612G>C (n.-612G>C)
 gnomAD v4
16g.2114585C>TCA394387844PKD1c.2438G>A (p.Cys813Tyr)
c.472+2904G>A
c.1369G>A (n.1369G>A)
c.2492G>A (p.Cys831Tyr)
c.2420G>A (p.Cys807Tyr)
c.2366G>A (p.Cys789Tyr)
c.2285G>A (p.Cys762Tyr)
c.2228G>A (p.Cys743Tyr)
c.314G>A (p.Cys105Tyr)
n.2507G>A
c.-612G>A (n.-612G>A)
16g.2114586A>CCA394387845PKD1c.2437T>G (p.Cys813Gly)
c.472+2903T>G
c.1368T>G (n.1368T>G)
c.2491T>G (p.Cys831Gly)
c.2419T>G (p.Cys807Gly)
c.2365T>G (p.Cys789Gly)
c.2284T>G (p.Cys762Gly)
c.2227T>G (p.Cys743Gly)
c.313T>G (p.Cys105Gly)
n.2506T>G
c.-613T>G (n.-613T>G)
16g.2114586A>GCA394387846PKD1c.2437T>C (p.Cys813Arg)
c.472+2903T>C
c.1368T>C (n.1368T>C)
c.2491T>C (p.Cys831Arg)
c.2419T>C (p.Cys807Arg)
c.2365T>C (p.Cys789Arg)
c.2284T>C (p.Cys762Arg)
c.2227T>C (p.Cys743Arg)
c.313T>C (p.Cys105Arg)
n.2506T>C
c.-613T>C (n.-613T>C)
16g.2114586A>TCA394387847PKD1c.2437T>A (p.Cys813Ser)
c.472+2903T>A
c.1368T>A (n.1368T>A)
c.2491T>A (p.Cys831Ser)
c.2419T>A (p.Cys807Ser)
c.2365T>A (p.Cys789Ser)
c.2284T>A (p.Cys762Ser)
c.2227T>A (p.Cys743Ser)
c.313T>A (p.Cys105Ser)
n.2506T>A
c.-613T>A (n.-613T>A)
16g.2114587G>ACA493049451PKD1c.2436C>T (p.Ser812=)
c.472+2902C>T
c.1367C>T (n.1367C>T)
c.2490C>T (p.Ser830=)
c.2418C>T (p.Ser806=)
c.2364C>T (p.Ser788=)
c.2283C>T (p.Ser761=)
c.2226C>T (p.Ser742=)
c.312C>T (p.Ser104=)
n.2505C>T
c.-614C>T (n.-614C>T)
 gnomAD v4
16g.2114587G>CCA493049452PKD1c.2436C>G (p.Ser812=)
c.472+2902C>G
c.1367C>G (n.1367C>G)
c.2490C>G (p.Ser830=)
c.2418C>G (p.Ser806=)
c.2364C>G (p.Ser788=)
c.2283C>G (p.Ser761=)
c.2226C>G (p.Ser742=)
c.312C>G (p.Ser104=)
n.2505C>G
c.-614C>G (n.-614C>G)
16g.2114587G>TCA493049453PKD1c.2436C>A (p.Ser812=)
c.472+2902C>A
c.1367C>A (n.1367C>A)
c.2490C>A (p.Ser830=)
c.2418C>A (p.Ser806=)
c.2364C>A (p.Ser788=)
c.2283C>A (p.Ser761=)
c.2226C>A (p.Ser742=)
c.312C>A (p.Ser104=)
n.2505C>A
c.-614C>A (n.-614C>A)
16g.2114588G>ACA394387848PKD1c.2435C>T (p.Ser812Phe)
c.472+2901C>T
c.1366C>T (n.1366C>T)
c.2489C>T (p.Ser830Phe)
c.2417C>T (p.Ser806Phe)
c.2363C>T (p.Ser788Phe)
c.2282C>T (p.Ser761Phe)
c.2225C>T (p.Ser742Phe)
c.311C>T (p.Ser104Phe)
n.2504C>T
c.-615C>T (n.-615C>T)
16g.2114588G>CCA394387849PKD1c.2435C>G (p.Ser812Cys)
c.472+2901C>G
c.1366C>G (n.1366C>G)
c.2489C>G (p.Ser830Cys)
c.2417C>G (p.Ser806Cys)
c.2363C>G (p.Ser788Cys)
c.2282C>G (p.Ser761Cys)
c.2225C>G (p.Ser742Cys)
c.311C>G (p.Ser104Cys)
n.2504C>G
c.-615C>G (n.-615C>G)
16g.2114588G>TCA394387850PKD1c.2435C>A (p.Ser812Tyr)
c.472+2901C>A
c.1366C>A (n.1366C>A)
c.2489C>A (p.Ser830Tyr)
c.2417C>A (p.Ser806Tyr)
c.2363C>A (p.Ser788Tyr)
c.2282C>A (p.Ser761Tyr)
c.2225C>A (p.Ser742Tyr)
c.311C>A (p.Ser104Tyr)
n.2504C>A
c.-615C>A (n.-615C>A)
 gnomAD v4
16g.2114591_2114592delCA2695222563PKD1c.2434_2435del (p.Ser812LeufsTer4)
c.472+2900_472+2901del
c.1365_1366del (n.1365_1366del)
c.2488_2489del (p.Ser830LeufsTer4)
c.2416_2417del (p.Ser806LeufsTer4)
c.2362_2363del (p.Ser788LeufsTer4)
c.2281_2282del (p.Ser761LeufsTer4)
c.2224_2225del (p.Ser742LeufsTer4)
c.310_311del (p.Ser104LeufsTer4)
n.2503_2504del
c.-616_-615del (n.-616_-615del)
16g.2114589delCA2695222564PKD1c.2434del (p.Ser812ProfsTer?)
c.472+2900del
c.1365del (n.1365del)
c.2488del (p.Ser830ProfsTer?)
c.2416del (p.Ser806ProfsTer?)
c.2362del (p.Ser788ProfsTer?)
c.2281del (p.Ser761ProfsTer?)
c.2224del (p.Ser742ProfsTer?)
c.310del (p.Ser104ProfsTer?)
n.2503del
c.-616del (n.-616del)
16g.2114589A>CCA394387851PKD1c.2434T>G (p.Ser812Ala)
c.472+2900T>G
c.1365T>G (n.1365T>G)
c.2488T>G (p.Ser830Ala)
c.2416T>G (p.Ser806Ala)
c.2362T>G (p.Ser788Ala)
c.2281T>G (p.Ser761Ala)
c.2224T>G (p.Ser742Ala)
c.310T>G (p.Ser104Ala)
n.2503T>G
c.-616T>G (n.-616T>G)
 gnomAD v4
16g.2114589A>GCA394387852PKD1c.2434T>C (p.Ser812Pro)
c.472+2900T>C
c.1365T>C (n.1365T>C)
c.2488T>C (p.Ser830Pro)
c.2416T>C (p.Ser806Pro)
c.2362T>C (p.Ser788Pro)
c.2281T>C (p.Ser761Pro)
c.2224T>C (p.Ser742Pro)
c.310T>C (p.Ser104Pro)
n.2503T>C
c.-616T>C (n.-616T>C)
16g.2114589A>TCA394387853PKD1c.2434T>A (p.Ser812Thr)
c.472+2900T>A
c.1365T>A (n.1365T>A)
c.2488T>A (p.Ser830Thr)
c.2416T>A (p.Ser806Thr)
c.2362T>A (p.Ser788Thr)
c.2281T>A (p.Ser761Thr)
c.2224T>A (p.Ser742Thr)
c.310T>A (p.Ser104Thr)
n.2503T>A
c.-616T>A (n.-616T>A)

Number of alleles fetched