Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2114807delCA2631142026PKD1c.2218del (p.Ala740ProfsTer?)
c.472+2684del
c.1149del (n.1149del)
c.2272del (p.Ala758ProfsTer?)
c.2200del (p.Ala734ProfsTer?)
c.2146del (p.Ala716ProfsTer?)
c.2065del (p.Ala689ProfsTer?)
c.2008del (p.Ala670ProfsTer?)
c.94del (p.Ala32ProfsTer?)
n.2287del
c.-832del (n.-832del)
 gnomAD v4
16g.2114807C>ACA394388653PKD1c.2216G>T (p.Arg739Leu)
c.472+2682G>T
c.1147G>T (n.1147G>T)
c.2270G>T (p.Arg757Leu)
c.2198G>T (p.Arg733Leu)
c.2144G>T (p.Arg715Leu)
c.2063G>T (p.Arg688Leu)
c.2006G>T (p.Arg669Leu)
c.92G>T (p.Arg31Leu)
n.2285G>T
c.-834G>T (n.-834G>T)
 gnomAD v4
16g.2114807C=CA645373041PKD1c.2216G= (p.Arg739=)
c.472+2682G=
c.1147G= (n.1147G=)
c.2270G= (p.Arg757=)
c.2198G= (p.Arg733=)
c.2144G= (p.Arg715=)
c.2063G= (p.Arg688=)
c.2006G= (p.Arg669=)
c.92G= (p.Arg31=)
n.2285G=
c.-834G= (n.-834G=)
16g.2114807C>GCA394388654PKD1c.2216G>C (p.Arg739Pro)
c.472+2682G>C
c.1147G>C (n.1147G>C)
c.2270G>C (p.Arg757Pro)
c.2198G>C (p.Arg733Pro)
c.2144G>C (p.Arg715Pro)
c.2063G>C (p.Arg688Pro)
c.2006G>C (p.Arg669Pro)
c.92G>C (p.Arg31Pro)
n.2285G>C
c.-834G>C (n.-834G>C)
 dbSNP gnomAD v3 gnomAD v4
16g.2114807C>TCA7833257PKD1c.2216G>A (p.Arg739Gln)
c.472+2682G>A
c.1147G>A (n.1147G>A)
c.2270G>A (p.Arg757Gln)
c.2198G>A (p.Arg733Gln)
c.2144G>A (p.Arg715Gln)
c.2063G>A (p.Arg688Gln)
c.2006G>A (p.Arg669Gln)
c.92G>A (p.Arg31Gln)
n.2285G>A
c.-834G>A (n.-834G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114808G>ACA394388657PKD1c.2215C>T (p.Arg739Trp)
c.472+2681C>T
c.1146C>T (n.1146C>T)
c.2215C>T (p.Gln739Ter)
c.2269C>T (p.Arg757Trp)
c.2197C>T (p.Arg733Trp)
c.2143C>T (p.Arg715Trp)
c.2062C>T (p.Arg688Trp)
c.2005C>T (p.Arg669Trp)
c.91C>T (p.Arg31Trp)
n.2284C>T
c.-835C>T (n.-835C>T)
 ClinVar dbSNP gnomAD v4
16g.2114808G>CCA7833258PKD1c.2215C>G (p.Arg739Gly)
c.472+2681C>G
c.1146C>G (n.1146C>G)
c.2215C>G (p.Gln739Glu)
c.2269C>G (p.Arg757Gly)
c.2197C>G (p.Arg733Gly)
c.2143C>G (p.Arg715Gly)
c.2062C>G (p.Arg688Gly)
c.2005C>G (p.Arg669Gly)
c.91C>G (p.Arg31Gly)
n.2284C>G
c.-835C>G (n.-835C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2114808G=CA2202049931PKD1c.2215C= (p.Arg739=)
c.472+2681C=
c.1146C= (n.1146C=)
c.2215C= (p.Gln739=)
c.2269C= (p.Arg757=)
c.2197C= (p.Arg733=)
c.2143C= (p.Arg715=)
c.2062C= (p.Arg688=)
c.2005C= (p.Arg669=)
c.91C= (p.Arg31=)
n.2284C=
c.-835C= (n.-835C=)
16g.2114808G>TCA493050054PKD1c.2215C>A (p.Arg739=)
c.472+2681C>A
c.1146C>A (n.1146C>A)
c.2215C>A (p.Gln739Lys)
c.2269C>A (p.Arg757=)
c.2197C>A (p.Arg733=)
c.2143C>A (p.Arg715=)
c.2062C>A (p.Arg688=)
c.2005C>A (p.Arg669=)
c.91C>A (p.Arg31=)
n.2284C>A
c.-835C>A (n.-835C>A)
 dbSNP gnomAD v4
16g.2114811delCA2631142027PKD1c.2215del (p.Arg739GlyfsTer?)
c.472+2681del
c.1146del (n.1146del)
c.2215del (p.Gln739ArgfsTer?)
c.2269del (p.Arg757GlyfsTer?)
c.2197del (p.Arg733GlyfsTer?)
c.2143del (p.Arg715GlyfsTer?)
c.2062del (p.Arg688GlyfsTer?)
c.2005del (p.Arg669GlyfsTer?)
c.91del (p.Arg31GlyfsTer?)
n.2284del
c.-835del (n.-835del)
 gnomAD v4
16g.2114811_2114818dupCA2695222569PKD1c.2208_2215dup (p.Arg739LeufsTer?)
c.472+2674_472+2681dup
c.1139_1146dup (n.1139_1146dup)
c.2208_2215dup (p.Gln739LeufsTer?)
c.2262_2269dup (p.Arg757LeufsTer?)
c.2190_2197dup (p.Arg733LeufsTer?)
c.2136_2143dup (p.Arg715LeufsTer?)
c.2055_2062dup (p.Arg688LeufsTer?)
c.1998_2005dup (p.Arg669LeufsTer?)
c.84_91dup (p.Arg31LeufsTer?)
n.2277_2284dup
16g.2114809G>ACA493050056PKD1c.2214C>T (p.Pro738=)
c.472+2680C>T
c.1145C>T (n.1145C>T)
c.2268C>T (p.Pro756=)
c.2196C>T (p.Pro732=)
c.2142C>T (p.Pro714=)
c.2061C>T (p.Pro687=)
c.2004C>T (p.Pro668=)
c.90C>T (p.Pro30=)
n.2283C>T
c.-836C>T (n.-836C>T)
 dbSNP gnomAD v2 gnomAD v4
16g.2114809G>CCA7833259PKD1c.2214C>G (p.Pro738=)
c.472+2680C>G
c.1145C>G (n.1145C>G)
c.2268C>G (p.Pro756=)
c.2196C>G (p.Pro732=)
c.2142C>G (p.Pro714=)
c.2061C>G (p.Pro687=)
c.2004C>G (p.Pro668=)
c.90C>G (p.Pro30=)
n.2283C>G
c.-836C>G (n.-836C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114809G=CA2202049932PKD1c.2214C= (p.Pro738=)
c.472+2680C=
c.1145C= (n.1145C=)
c.2268C= (p.Pro756=)
c.2196C= (p.Pro732=)
c.2142C= (p.Pro714=)
c.2061C= (p.Pro687=)
c.2004C= (p.Pro668=)
c.90C= (p.Pro30=)
n.2283C=
c.-836C= (n.-836C=)
16g.2114809G>TCA493050057PKD1c.2214C>A (p.Pro738=)
c.472+2680C>A
c.1145C>A (n.1145C>A)
c.2268C>A (p.Pro756=)
c.2196C>A (p.Pro732=)
c.2142C>A (p.Pro714=)
c.2061C>A (p.Pro687=)
c.2004C>A (p.Pro668=)
c.90C>A (p.Pro30=)
n.2283C>A
c.-836C>A (n.-836C>A)
 gnomAD v4
16g.2114810G>ACA276782857PKD1c.2213C>T (p.Pro738Leu)
c.472+2679C>T
c.1144C>T (n.1144C>T)
c.2267C>T (p.Pro756Leu)
c.2195C>T (p.Pro732Leu)
c.2141C>T (p.Pro714Leu)
c.2060C>T (p.Pro687Leu)
c.2003C>T (p.Pro668Leu)
c.89C>T (p.Pro30Leu)
n.2282C>T
c.-837C>T (n.-837C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114810G>CCA394388664PKD1c.2213C>G (p.Pro738Arg)
c.472+2679C>G
c.1144C>G (n.1144C>G)
c.2267C>G (p.Pro756Arg)
c.2195C>G (p.Pro732Arg)
c.2141C>G (p.Pro714Arg)
c.2060C>G (p.Pro687Arg)
c.2003C>G (p.Pro668Arg)
c.89C>G (p.Pro30Arg)
n.2282C>G
c.-837C>G (n.-837C>G)
16g.2114810G=CA2202049933PKD1c.2213C= (p.Pro738=)
c.472+2679C=
c.1144C= (n.1144C=)
c.2267C= (p.Pro756=)
c.2195C= (p.Pro732=)
c.2141C= (p.Pro714=)
c.2060C= (p.Pro687=)
c.2003C= (p.Pro668=)
c.89C= (p.Pro30=)
n.2282C=
c.-837C= (n.-837C=)
16g.2114810G>TCA276782858PKD1c.2213C>A (p.Pro738His)
c.472+2679C>A
c.1144C>A (n.1144C>A)
c.2267C>A (p.Pro756His)
c.2195C>A (p.Pro732His)
c.2141C>A (p.Pro714His)
c.2060C>A (p.Pro687His)
c.2003C>A (p.Pro668His)
c.89C>A (p.Pro30His)
n.2282C>A
c.-837C>A (n.-837C>A)
 dbSNP gnomAD v3 gnomAD v4
16g.2114811G>ACA394388666PKD1c.2212C>T (p.Pro738Ser)
c.472+2678C>T
c.1143C>T (n.1143C>T)
c.2266C>T (p.Pro756Ser)
c.2194C>T (p.Pro732Ser)
c.2140C>T (p.Pro714Ser)
c.2059C>T (p.Pro687Ser)
c.2002C>T (p.Pro668Ser)
c.88C>T (p.Pro30Ser)
n.2281C>T
c.-838C>T (n.-838C>T)
 dbSNP gnomAD v3 gnomAD v4
16g.2114811G>CCA394388667PKD1c.2212C>G (p.Pro738Ala)
c.472+2678C>G
c.1143C>G (n.1143C>G)
c.2266C>G (p.Pro756Ala)
c.2194C>G (p.Pro732Ala)
c.2140C>G (p.Pro714Ala)
c.2059C>G (p.Pro687Ala)
c.2002C>G (p.Pro668Ala)
c.88C>G (p.Pro30Ala)
n.2281C>G
c.-838C>G (n.-838C>G)
 gnomAD v4
16g.2114811G=CA2202049934PKD1c.2212C= (p.Pro738=)
c.472+2678C=
c.1143C= (n.1143C=)
c.2266C= (p.Pro756=)
c.2194C= (p.Pro732=)
c.2140C= (p.Pro714=)
c.2059C= (p.Pro687=)
c.2002C= (p.Pro668=)
c.88C= (p.Pro30=)
n.2281C=
c.-838C= (n.-838C=)
16g.2114811G>TCA394388669PKD1c.2212C>A (p.Pro738Thr)
c.472+2678C>A
c.1143C>A (n.1143C>A)
c.2266C>A (p.Pro756Thr)
c.2194C>A (p.Pro732Thr)
c.2140C>A (p.Pro714Thr)
c.2059C>A (p.Pro687Thr)
c.2002C>A (p.Pro668Thr)
c.88C>A (p.Pro30Thr)
n.2281C>A
c.-838C>A (n.-838C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114812A=CA2202049935PKD1c.2211T= (p.Gly737=)
c.472+2677T=
c.1142T= (n.1142T=)
c.2265T= (p.Gly755=)
c.2193T= (p.Gly731=)
c.2139T= (p.Gly713=)
c.2058T= (p.Gly686=)
c.2001T= (p.Gly667=)
c.87T= (p.Gly29=)
n.2280T=
c.-839T= (n.-839T=)
16g.2114812A>CCA492974184PKD1c.2211T>G (p.Gly737=)
c.472+2677T>G
c.1142T>G (n.1142T>G)
c.2265T>G (p.Gly755=)
c.2193T>G (p.Gly731=)
c.2139T>G (p.Gly713=)
c.2058T>G (p.Gly686=)
c.2001T>G (p.Gly667=)
c.87T>G (p.Gly29=)
n.2280T>G
c.-839T>G (n.-839T>G)
 dbSNP gnomAD v3 gnomAD v4
16g.2114812A>GCA492974187PKD1c.2211T>C (p.Gly737=)
c.472+2677T>C
c.1142T>C (n.1142T>C)
c.2265T>C (p.Gly755=)
c.2193T>C (p.Gly731=)
c.2139T>C (p.Gly713=)
c.2058T>C (p.Gly686=)
c.2001T>C (p.Gly667=)
c.87T>C (p.Gly29=)
n.2280T>C
c.-839T>C (n.-839T>C)
16g.2114812A>TCA492974190PKD1c.2211T>A (p.Gly737=)
c.472+2677T>A
c.1142T>A (n.1142T>A)
c.2265T>A (p.Gly755=)
c.2193T>A (p.Gly731=)
c.2139T>A (p.Gly713=)
c.2058T>A (p.Gly686=)
c.2001T>A (p.Gly667=)
c.87T>A (p.Gly29=)
n.2280T>A
c.-839T>A (n.-839T>A)
 gnomAD v4
16g.2114813C>ACA394389079PKD1c.2210G>T (p.Gly737Val)
c.472+2676G>T
c.1141G>T (n.1141G>T)
c.2264G>T (p.Gly755Val)
c.2192G>T (p.Gly731Val)
c.2138G>T (p.Gly713Val)
c.2057G>T (p.Gly686Val)
c.2000G>T (p.Gly667Val)
c.86G>T (p.Gly29Val)
n.2279G>T
c.-840G>T (n.-840G>T)
16g.2114813C=CA2202049936PKD1c.2210G= (p.Gly737=)
c.472+2676G=
c.1141G= (n.1141G=)
c.2264G= (p.Gly755=)
c.2192G= (p.Gly731=)
c.2138G= (p.Gly713=)
c.2057G= (p.Gly686=)
c.2000G= (p.Gly667=)
c.86G= (p.Gly29=)
n.2279G=
c.-840G= (n.-840G=)
16g.2114813C>GCA394389080PKD1c.2210G>C (p.Gly737Ala)
c.472+2676G>C
c.1141G>C (n.1141G>C)
c.2264G>C (p.Gly755Ala)
c.2192G>C (p.Gly731Ala)
c.2138G>C (p.Gly713Ala)
c.2057G>C (p.Gly686Ala)
c.2000G>C (p.Gly667Ala)
c.86G>C (p.Gly29Ala)
n.2279G>C
c.-840G>C (n.-840G>C)
 gnomAD v4
16g.2114813C>TCA7833260PKD1c.2210G>A (p.Gly737Asp)
c.472+2676G>A
c.1141G>A (n.1141G>A)
c.2264G>A (p.Gly755Asp)
c.2192G>A (p.Gly731Asp)
c.2138G>A (p.Gly713Asp)
c.2057G>A (p.Gly686Asp)
c.2000G>A (p.Gly667Asp)
c.86G>A (p.Gly29Asp)
n.2279G>A
c.-840G>A (n.-840G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2114814delCA2631142028PKD1c.2210del (p.Gly737ValfsTer?)
c.472+2676del
c.1141del (n.1141del)
c.2264del (p.Gly755ValfsTer?)
c.2192del (p.Gly731ValfsTer?)
c.2138del (p.Gly713ValfsTer?)
c.2057del (p.Gly686ValfsTer?)
c.2000del (p.Gly667ValfsTer?)
c.86del (p.Gly29ValfsTer?)
n.2279del
c.-840del (n.-840del)
 gnomAD v4
16g.2114814C>ACA394389083PKD1c.2209G>T (p.Gly737Cys)
c.472+2675G>T
c.1140G>T (n.1140G>T)
c.2263G>T (p.Gly755Cys)
c.2191G>T (p.Gly731Cys)
c.2137G>T (p.Gly713Cys)
c.2056G>T (p.Gly686Cys)
c.1999G>T (p.Gly667Cys)
c.85G>T (p.Gly29Cys)
n.2278G>T
c.-841G>T (n.-841G>T)
16g.2114814C=CA2202049937PKD1c.2209G= (p.Gly737=)
c.472+2675G=
c.1140G= (n.1140G=)
c.2263G= (p.Gly755=)
c.2191G= (p.Gly731=)
c.2137G= (p.Gly713=)
c.2056G= (p.Gly686=)
c.1999G= (p.Gly667=)
c.85G= (p.Gly29=)
n.2278G=
c.-841G= (n.-841G=)
16g.2114814C>GCA394389085PKD1c.2209G>C (p.Gly737Arg)
c.472+2675G>C
c.1140G>C (n.1140G>C)
c.2263G>C (p.Gly755Arg)
c.2191G>C (p.Gly731Arg)
c.2137G>C (p.Gly713Arg)
c.2056G>C (p.Gly686Arg)
c.1999G>C (p.Gly667Arg)
c.85G>C (p.Gly29Arg)
n.2278G>C
c.-841G>C (n.-841G>C)
 gnomAD v4
16g.2114814C>TCA394389086PKD1c.2209G>A (p.Gly737Ser)
c.472+2675G>A
c.1140G>A (n.1140G>A)
c.2263G>A (p.Gly755Ser)
c.2191G>A (p.Gly731Ser)
c.2137G>A (p.Gly713Ser)
c.2056G>A (p.Gly686Ser)
c.1999G>A (p.Gly667Ser)
c.85G>A (p.Gly29Ser)
n.2278G>A
c.-841G>A (n.-841G>A)
 dbSNP gnomAD v2 gnomAD v4
16g.2114815A=CA2202049938PKD1c.2208T= (p.Pro736=)
c.472+2674T=
c.1139T= (n.1139T=)
c.2262T= (p.Pro754=)
c.2190T= (p.Pro730=)
c.2136T= (p.Pro712=)
c.2055T= (p.Pro685=)
c.1998T= (p.Pro666=)
c.84T= (p.Pro28=)
n.2277T=
16g.2114815A>CCA492974201PKD1c.2208T>G (p.Pro736=)
c.472+2674T>G
c.1139T>G (n.1139T>G)
c.2262T>G (p.Pro754=)
c.2190T>G (p.Pro730=)
c.2136T>G (p.Pro712=)
c.2055T>G (p.Pro685=)
c.1998T>G (p.Pro666=)
c.84T>G (p.Pro28=)
n.2277T>G
 gnomAD v4
16g.2114815A>GCA7833261PKD1c.2208T>C (p.Pro736=)
c.472+2674T>C
c.1139T>C (n.1139T>C)
c.2262T>C (p.Pro754=)
c.2190T>C (p.Pro730=)
c.2136T>C (p.Pro712=)
c.2055T>C (p.Pro685=)
c.1998T>C (p.Pro666=)
c.84T>C (p.Pro28=)
n.2277T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114815A>TCA492974205PKD1c.2208T>A (p.Pro736=)
c.472+2674T>A
c.1139T>A (n.1139T>A)
c.2262T>A (p.Pro754=)
c.2190T>A (p.Pro730=)
c.2136T>A (p.Pro712=)
c.2055T>A (p.Pro685=)
c.1998T>A (p.Pro666=)
c.84T>A (p.Pro28=)
n.2277T>A
16g.2114816G>ACA394389092PKD1c.2207C>T (p.Pro736Leu)
c.472+2673C>T
c.1138C>T (n.1138C>T)
c.2261C>T (p.Pro754Leu)
c.2189C>T (p.Pro730Leu)
c.2135C>T (p.Pro712Leu)
c.2054C>T (p.Pro685Leu)
c.1997C>T (p.Pro666Leu)
c.83C>T (p.Pro28Leu)
n.2276C>T
 gnomAD v4
16g.2114816G>CCA394389091PKD1c.2207C>G (p.Pro736Arg)
c.472+2673C>G
c.1138C>G (n.1138C>G)
c.2261C>G (p.Pro754Arg)
c.2189C>G (p.Pro730Arg)
c.2135C>G (p.Pro712Arg)
c.2054C>G (p.Pro685Arg)
c.1997C>G (p.Pro666Arg)
c.83C>G (p.Pro28Arg)
n.2276C>G
16g.2114816G=CA2202049939PKD1c.2207C= (p.Pro736=)
c.472+2673C=
c.1138C= (n.1138C=)
c.2261C= (p.Pro754=)
c.2189C= (p.Pro730=)
c.2135C= (p.Pro712=)
c.2054C= (p.Pro685=)
c.1997C= (p.Pro666=)
c.83C= (p.Pro28=)
n.2276C=
16g.2114816G>TCA394389089PKD1c.2207C>A (p.Pro736His)
c.472+2673C>A
c.1138C>A (n.1138C>A)
c.2261C>A (p.Pro754His)
c.2189C>A (p.Pro730His)
c.2135C>A (p.Pro712His)
c.2054C>A (p.Pro685His)
c.1997C>A (p.Pro666His)
c.83C>A (p.Pro28His)
n.2276C>A
 dbSNP gnomAD v4
16g.2114817G>ACA394389094PKD1c.2206C>T (p.Pro736Ser)
c.472+2672C>T
c.1137C>T (n.1137C>T)
c.2260C>T (p.Pro754Ser)
c.2188C>T (p.Pro730Ser)
c.2134C>T (p.Pro712Ser)
c.2053C>T (p.Pro685Ser)
c.1996C>T (p.Pro666Ser)
c.82C>T (p.Pro28Ser)
n.2275C>T
16g.2114817G>CCA394389097PKD1c.2206C>G (p.Pro736Ala)
c.472+2672C>G
c.1137C>G (n.1137C>G)
c.2260C>G (p.Pro754Ala)
c.2188C>G (p.Pro730Ala)
c.2134C>G (p.Pro712Ala)
c.2053C>G (p.Pro685Ala)
c.1996C>G (p.Pro666Ala)
c.82C>G (p.Pro28Ala)
n.2275C>G
16g.2114817G>TCA394389095PKD1c.2206C>A (p.Pro736Thr)
c.472+2672C>A
c.1137C>A (n.1137C>A)
c.2260C>A (p.Pro754Thr)
c.2188C>A (p.Pro730Thr)
c.2134C>A (p.Pro712Thr)
c.2053C>A (p.Pro685Thr)
c.1996C>A (p.Pro666Thr)
c.82C>A (p.Pro28Thr)
n.2275C>A
 gnomAD v4
16g.2114818G>ACA492974216PKD1c.2205C>T (p.His735=)
c.472+2671C>T
c.1136C>T (n.1136C>T)
c.2259C>T (p.His753=)
c.2187C>T (p.His729=)
c.2133C>T (p.His711=)
c.2052C>T (p.His684=)
c.1995C>T (p.His665=)
c.81C>T (p.His27=)
n.2274C>T
 dbSNP gnomAD v2 gnomAD v4
16g.2114818G>CCA394389099PKD1c.2205C>G (p.His735Gln)
c.472+2671C>G
c.1136C>G (n.1136C>G)
c.2259C>G (p.His753Gln)
c.2187C>G (p.His729Gln)
c.2133C>G (p.His711Gln)
c.2052C>G (p.His684Gln)
c.1995C>G (p.His665Gln)
c.81C>G (p.His27Gln)
n.2274C>G
 dbSNP gnomAD v3 gnomAD v4
16g.2114818G=CA2202049940PKD1c.2205C= (p.His735=)
c.472+2671C=
c.1136C= (n.1136C=)
c.2259C= (p.His753=)
c.2187C= (p.His729=)
c.2133C= (p.His711=)
c.2052C= (p.His684=)
c.1995C= (p.His665=)
c.81C= (p.His27=)
n.2274C=
16g.2114818G>TCA394389100PKD1c.2205C>A (p.His735Gln)
c.472+2671C>A
c.1136C>A (n.1136C>A)
c.2259C>A (p.His753Gln)
c.2187C>A (p.His729Gln)
c.2133C>A (p.His711Gln)
c.2052C>A (p.His684Gln)
c.1995C>A (p.His665Gln)
c.81C>A (p.His27Gln)
n.2274C>A
 gnomAD v4
16g.2114819T>ACA394389101PKD1c.2204A>T (p.His735Leu)
c.472+2670A>T
c.1135A>T (n.1135A>T)
c.2258A>T (p.His753Leu)
c.2186A>T (p.His729Leu)
c.2132A>T (p.His711Leu)
c.2051A>T (p.His684Leu)
c.1994A>T (p.His665Leu)
c.80A>T (p.His27Leu)
n.2273A>T
16g.2114819T>CCA394389103PKD1c.2204A>G (p.His735Arg)
c.472+2670A>G
c.1135A>G (n.1135A>G)
c.2258A>G (p.His753Arg)
c.2186A>G (p.His729Arg)
c.2132A>G (p.His711Arg)
c.2051A>G (p.His684Arg)
c.1994A>G (p.His665Arg)
c.80A>G (p.His27Arg)
n.2273A>G
16g.2114819T>GCA394389104PKD1c.2204A>C (p.His735Pro)
c.472+2670A>C
c.1135A>C (n.1135A>C)
c.2258A>C (p.His753Pro)
c.2186A>C (p.His729Pro)
c.2132A>C (p.His711Pro)
c.2051A>C (p.His684Pro)
c.1994A>C (p.His665Pro)
c.80A>C (p.His27Pro)
n.2273A>C
16g.2114820G>ACA394389106PKD1c.2203C>T (p.His735Tyr)
c.472+2669C>T
c.1134C>T (n.1134C>T)
c.2257C>T (p.His753Tyr)
c.2185C>T (p.His729Tyr)
c.2131C>T (p.His711Tyr)
c.2050C>T (p.His684Tyr)
c.1993C>T (p.His665Tyr)
c.79C>T (p.His27Tyr)
n.2272C>T
16g.2114820G>CCA394389107PKD1c.2203C>G (p.His735Asp)
c.472+2669C>G
c.1134C>G (n.1134C>G)
c.2257C>G (p.His753Asp)
c.2185C>G (p.His729Asp)
c.2131C>G (p.His711Asp)
c.2050C>G (p.His684Asp)
c.1993C>G (p.His665Asp)
c.79C>G (p.His27Asp)
n.2272C>G
16g.2114820G>TCA394389109PKD1c.2203C>A (p.His735Asn)
c.472+2669C>A
c.1134C>A (n.1134C>A)
c.2257C>A (p.His753Asn)
c.2185C>A (p.His729Asn)
c.2131C>A (p.His711Asn)
c.2050C>A (p.His684Asn)
c.1993C>A (p.His665Asn)
c.79C>A (p.His27Asn)
n.2272C>A
 gnomAD v4
16g.2114821G>ACA492974232PKD1c.2202C>T (p.Gly734=)
c.472+2668C>T
c.1133C>T (n.1133C>T)
c.2256C>T (p.Gly752=)
c.2184C>T (p.Gly728=)
c.2130C>T (p.Gly710=)
c.2049C>T (p.Gly683=)
c.1992C>T (p.Gly664=)
c.78C>T (p.Gly26=)
n.2271C>T
 dbSNP gnomAD v3 gnomAD v4
16g.2114821G>CCA492974234PKD1c.2202C>G (p.Gly734=)
c.472+2668C>G
c.1133C>G (n.1133C>G)
c.2256C>G (p.Gly752=)
c.2184C>G (p.Gly728=)
c.2130C>G (p.Gly710=)
c.2049C>G (p.Gly683=)
c.1992C>G (p.Gly664=)
c.78C>G (p.Gly26=)
n.2271C>G
16g.2114821G=CA2202049941PKD1c.2202C= (p.Gly734=)
c.472+2668C=
c.1133C= (n.1133C=)
c.2256C= (p.Gly752=)
c.2184C= (p.Gly728=)
c.2130C= (p.Gly710=)
c.2049C= (p.Gly683=)
c.1992C= (p.Gly664=)
c.78C= (p.Gly26=)
n.2271C=
16g.2114821G>TCA492974235PKD1c.2202C>A (p.Gly734=)
c.472+2668C>A
c.1133C>A (n.1133C>A)
c.2256C>A (p.Gly752=)
c.2184C>A (p.Gly728=)
c.2130C>A (p.Gly710=)
c.2049C>A (p.Gly683=)
c.1992C>A (p.Gly664=)
c.78C>A (p.Gly26=)
n.2271C>A
 gnomAD v4
16g.2114822C>ACA394389110PKD1c.2201G>T (p.Gly734Val)
c.472+2667G>T
c.1132G>T (n.1132G>T)
c.2255G>T (p.Gly752Val)
c.2183G>T (p.Gly728Val)
c.2129G>T (p.Gly710Val)
c.2048G>T (p.Gly683Val)
c.1991G>T (p.Gly664Val)
c.77G>T (p.Gly26Val)
n.2270G>T
16g.2114822C>GCA394389112PKD1c.2201G>C (p.Gly734Ala)
c.472+2667G>C
c.1132G>C (n.1132G>C)
c.2255G>C (p.Gly752Ala)
c.2183G>C (p.Gly728Ala)
c.2129G>C (p.Gly710Ala)
c.2048G>C (p.Gly683Ala)
c.1991G>C (p.Gly664Ala)
c.77G>C (p.Gly26Ala)
n.2270G>C
16g.2114822C>TCA394389113PKD1c.2201G>A (p.Gly734Asp)
c.472+2667G>A
c.1132G>A (n.1132G>A)
c.2255G>A (p.Gly752Asp)
c.2183G>A (p.Gly728Asp)
c.2129G>A (p.Gly710Asp)
c.2048G>A (p.Gly683Asp)
c.1991G>A (p.Gly664Asp)
c.77G>A (p.Gly26Asp)
n.2270G>A
16g.2114823C>ACA394389117PKD1c.2200G>T (p.Gly734Cys)
c.472+2666G>T
c.1131G>T (n.1131G>T)
c.2254G>T (p.Gly752Cys)
c.2182G>T (p.Gly728Cys)
c.2128G>T (p.Gly710Cys)
c.2047G>T (p.Gly683Cys)
c.1990G>T (p.Gly664Cys)
c.76G>T (p.Gly26Cys)
n.2269G>T
16g.2114823C=CA2202049942PKD1c.2200G= (p.Gly734=)
c.472+2666G=
c.1131G= (n.1131G=)
c.2254G= (p.Gly752=)
c.2182G= (p.Gly728=)
c.2128G= (p.Gly710=)
c.2047G= (p.Gly683=)
c.1990G= (p.Gly664=)
c.76G= (p.Gly26=)
n.2269G=
16g.2114823C>GCA394389114PKD1c.2200G>C (p.Gly734Arg)
c.472+2666G>C
c.1131G>C (n.1131G>C)
c.2254G>C (p.Gly752Arg)
c.2182G>C (p.Gly728Arg)
c.2128G>C (p.Gly710Arg)
c.2047G>C (p.Gly683Arg)
c.1990G>C (p.Gly664Arg)
c.76G>C (p.Gly26Arg)
n.2269G>C
16g.2114823C>TCA394389115PKD1c.2200G>A (p.Gly734Ser)
c.472+2666G>A
c.1131G>A (n.1131G>A)
c.2254G>A (p.Gly752Ser)
c.2182G>A (p.Gly728Ser)
c.2128G>A (p.Gly710Ser)
c.2047G>A (p.Gly683Ser)
c.1990G>A (p.Gly664Ser)
c.76G>A (p.Gly26Ser)
n.2269G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114823_2114824delCA2695222570PKD1c.2199_2200del (p.Gly734ProfsTer?)
c.472+2665_472+2666del
c.1130_1131del (n.1130_1131del)
c.2253_2254del (p.Gly752ProfsTer?)
c.2181_2182del (p.Gly728ProfsTer?)
c.2127_2128del (p.Gly710ProfsTer?)
c.2046_2047del (p.Gly683ProfsTer?)
c.1989_1990del (p.Gly664ProfsTer?)
c.75_76del (p.Gly26ProfsTer?)
n.2268_2269del
16g.2114824G>ACA7833263PKD1c.2199C>T (p.Pro733=)
c.472+2665C>T
c.1130C>T (n.1130C>T)
c.2253C>T (p.Pro751=)
c.2181C>T (p.Pro727=)
c.2127C>T (p.Pro709=)
c.2046C>T (p.Pro682=)
c.1989C>T (p.Pro663=)
c.75C>T (p.Pro25=)
n.2268C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114824G>CCA7833262PKD1c.2199C>G (p.Pro733=)
c.472+2665C>G
c.1130C>G (n.1130C>G)
c.2253C>G (p.Pro751=)
c.2181C>G (p.Pro727=)
c.2127C>G (p.Pro709=)
c.2046C>G (p.Pro682=)
c.1989C>G (p.Pro663=)
c.75C>G (p.Pro25=)
n.2268C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114824G=CA2202049943PKD1c.2199C= (p.Pro733=)
c.472+2665C=
c.1130C= (n.1130C=)
c.2253C= (p.Pro751=)
c.2181C= (p.Pro727=)
c.2127C= (p.Pro709=)
c.2046C= (p.Pro682=)
c.1989C= (p.Pro663=)
c.75C= (p.Pro25=)
n.2268C=
16g.2114824G>TCA492974239PKD1c.2199C>A (p.Pro733=)
c.472+2665C>A
c.1130C>A (n.1130C>A)
c.2253C>A (p.Pro751=)
c.2181C>A (p.Pro727=)
c.2127C>A (p.Pro709=)
c.2046C>A (p.Pro682=)
c.1989C>A (p.Pro663=)
c.75C>A (p.Pro25=)
n.2268C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114825G>ACA394389119PKD1c.2198C>T (p.Pro733Leu)
c.472+2664C>T
c.1129C>T (n.1129C>T)
c.2252C>T (p.Pro751Leu)
c.2180C>T (p.Pro727Leu)
c.2126C>T (p.Pro709Leu)
c.2045C>T (p.Pro682Leu)
c.1988C>T (p.Pro663Leu)
c.74C>T (p.Pro25Leu)
n.2267C>T
16g.2114825G>CCA394389120PKD1c.2198C>G (p.Pro733Arg)
c.472+2664C>G
c.1129C>G (n.1129C>G)
c.2252C>G (p.Pro751Arg)
c.2180C>G (p.Pro727Arg)
c.2126C>G (p.Pro709Arg)
c.2045C>G (p.Pro682Arg)
c.1988C>G (p.Pro663Arg)
c.74C>G (p.Pro25Arg)
n.2267C>G
 gnomAD v4
16g.2114825G>TCA394389121PKD1c.2198C>A (p.Pro733His)
c.472+2664C>A
c.1129C>A (n.1129C>A)
c.2252C>A (p.Pro751His)
c.2180C>A (p.Pro727His)
c.2126C>A (p.Pro709His)
c.2045C>A (p.Pro682His)
c.1988C>A (p.Pro663His)
c.74C>A (p.Pro25His)
n.2267C>A
16g.2114826G>ACA7833264PKD1c.2197C>T (p.Pro733Ser)
c.472+2663C>T
c.1128C>T (n.1128C>T)
c.2251C>T (p.Pro751Ser)
c.2179C>T (p.Pro727Ser)
c.2125C>T (p.Pro709Ser)
c.2044C>T (p.Pro682Ser)
c.1987C>T (p.Pro663Ser)
c.73C>T (p.Pro25Ser)
n.2266C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2114826G>CCA394389122PKD1c.2197C>G (p.Pro733Ala)
c.472+2663C>G
c.1128C>G (n.1128C>G)
c.2251C>G (p.Pro751Ala)
c.2179C>G (p.Pro727Ala)
c.2125C>G (p.Pro709Ala)
c.2044C>G (p.Pro682Ala)
c.1987C>G (p.Pro663Ala)
c.73C>G (p.Pro25Ala)
n.2266C>G
16g.2114826G=CA2202049944PKD1c.2197C= (p.Pro733=)
c.472+2663C=
c.1128C= (n.1128C=)
c.2251C= (p.Pro751=)
c.2179C= (p.Pro727=)
c.2125C= (p.Pro709=)
c.2044C= (p.Pro682=)
c.1987C= (p.Pro663=)
c.73C= (p.Pro25=)
n.2266C=
16g.2114826G>TCA394389123PKD1c.2197C>A (p.Pro733Thr)
c.472+2663C>A
c.1128C>A (n.1128C>A)
c.2251C>A (p.Pro751Thr)
c.2179C>A (p.Pro727Thr)
c.2125C>A (p.Pro709Thr)
c.2044C>A (p.Pro682Thr)
c.1987C>A (p.Pro663Thr)
c.73C>A (p.Pro25Thr)
n.2266C>A
16g.2114827A>CCA492974258PKD1c.2196T>G (p.Ala732=)
c.472+2662T>G
c.1127T>G (n.1127T>G)
c.2250T>G (p.Ala750=)
c.2178T>G (p.Ala726=)
c.2124T>G (p.Ala708=)
c.2043T>G (p.Ala681=)
c.1986T>G (p.Ala662=)
c.72T>G (p.Ala24=)
n.2265T>G
 gnomAD v4
16g.2114827A>GCA492974262PKD1c.2196T>C (p.Ala732=)
c.472+2662T>C
c.1127T>C (n.1127T>C)
c.2250T>C (p.Ala750=)
c.2178T>C (p.Ala726=)
c.2124T>C (p.Ala708=)
c.2043T>C (p.Ala681=)
c.1986T>C (p.Ala662=)
c.72T>C (p.Ala24=)
n.2265T>C
16g.2114827A>TCA492974264PKD1c.2196T>A (p.Ala732=)
c.472+2662T>A
c.1127T>A (n.1127T>A)
c.2250T>A (p.Ala750=)
c.2178T>A (p.Ala726=)
c.2124T>A (p.Ala708=)
c.2043T>A (p.Ala681=)
c.1986T>A (p.Ala662=)
c.72T>A (p.Ala24=)
n.2265T>A
16g.2114828G>ACA394389125PKD1c.2195C>T (p.Ala732Val)
c.472+2661C>T
c.1126C>T (n.1126C>T)
c.2249C>T (p.Ala750Val)
c.2177C>T (p.Ala726Val)
c.2123C>T (p.Ala708Val)
c.2042C>T (p.Ala681Val)
c.1985C>T (p.Ala662Val)
c.71C>T (p.Ala24Val)
n.2264C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114828G>CCA394389126PKD1c.2195C>G (p.Ala732Gly)
c.472+2661C>G
c.1126C>G (n.1126C>G)
c.2249C>G (p.Ala750Gly)
c.2177C>G (p.Ala726Gly)
c.2123C>G (p.Ala708Gly)
c.2042C>G (p.Ala681Gly)
c.1985C>G (p.Ala662Gly)
c.71C>G (p.Ala24Gly)
n.2264C>G
 gnomAD v4
16g.2114828G=CA2202049945PKD1c.2195C= (p.Ala732=)
c.472+2661C=
c.1126C= (n.1126C=)
c.2249C= (p.Ala750=)
c.2177C= (p.Ala726=)
c.2123C= (p.Ala708=)
c.2042C= (p.Ala681=)
c.1985C= (p.Ala662=)
c.71C= (p.Ala24=)
n.2264C=
16g.2114828G>TCA394389127PKD1c.2195C>A (p.Ala732Asp)
c.472+2661C>A
c.1126C>A (n.1126C>A)
c.2249C>A (p.Ala750Asp)
c.2177C>A (p.Ala726Asp)
c.2123C>A (p.Ala708Asp)
c.2042C>A (p.Ala681Asp)
c.1985C>A (p.Ala662Asp)
c.71C>A (p.Ala24Asp)
n.2264C>A
 gnomAD v4
16g.2114829C>ACA394389130PKD1c.2194G>T (p.Ala732Ser)
c.472+2660G>T
c.1125G>T (n.1125G>T)
c.2248G>T (p.Ala750Ser)
c.2176G>T (p.Ala726Ser)
c.2122G>T (p.Ala708Ser)
c.2041G>T (p.Ala681Ser)
c.1984G>T (p.Ala662Ser)
c.70G>T (p.Ala24Ser)
n.2263G>T
 dbSNP gnomAD v3 gnomAD v4
16g.2114829C=CA2202049946PKD1c.2194G= (p.Ala732=)
c.472+2660G=
c.1125G= (n.1125G=)
c.2248G= (p.Ala750=)
c.2176G= (p.Ala726=)
c.2122G= (p.Ala708=)
c.2041G= (p.Ala681=)
c.1984G= (p.Ala662=)
c.70G= (p.Ala24=)
n.2263G=
16g.2114829C>GCA394389131PKD1c.2194G>C (p.Ala732Pro)
c.472+2660G>C
c.1125G>C (n.1125G>C)
c.2248G>C (p.Ala750Pro)
c.2176G>C (p.Ala726Pro)
c.2122G>C (p.Ala708Pro)
c.2041G>C (p.Ala681Pro)
c.1984G>C (p.Ala662Pro)
c.70G>C (p.Ala24Pro)
n.2263G>C
16g.2114829C>TCA394389129PKD1c.2194G>A (p.Ala732Thr)
c.472+2660G>A
c.1125G>A (n.1125G>A)
c.2248G>A (p.Ala750Thr)
c.2176G>A (p.Ala726Thr)
c.2122G>A (p.Ala708Thr)
c.2041G>A (p.Ala681Thr)
c.1984G>A (p.Ala662Thr)
c.70G>A (p.Ala24Thr)
n.2263G>A
 dbSNP gnomAD v2 gnomAD v4
16g.2114830C>ACA7833265PKD1c.2193G>T (p.Pro731=)
c.472+2659G>T
c.1124G>T (n.1124G>T)
c.2247G>T (p.Pro749=)
c.2175G>T (p.Pro725=)
c.2121G>T (p.Pro707=)
c.2040G>T (p.Pro680=)
c.1983G>T (p.Pro661=)
c.69G>T (p.Pro23=)
n.2262G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114830C=CA2202049947PKD1c.2193G= (p.Pro731=)
c.472+2659G=
c.1124G= (n.1124G=)
c.2247G= (p.Pro749=)
c.2175G= (p.Pro725=)
c.2121G= (p.Pro707=)
c.2040G= (p.Pro680=)
c.1983G= (p.Pro661=)
c.69G= (p.Pro23=)
n.2262G=
16g.2114830C>GCA492974275PKD1c.2193G>C (p.Pro731=)
c.472+2659G>C
c.1124G>C (n.1124G>C)
c.2247G>C (p.Pro749=)
c.2175G>C (p.Pro725=)
c.2121G>C (p.Pro707=)
c.2040G>C (p.Pro680=)
c.1983G>C (p.Pro661=)
c.69G>C (p.Pro23=)
n.2262G>C
16g.2114830C>TCA492974272PKD1c.2193G>A (p.Pro731=)
c.472+2659G>A
c.1124G>A (n.1124G>A)
c.2247G>A (p.Pro749=)
c.2175G>A (p.Pro725=)
c.2121G>A (p.Pro707=)
c.2040G>A (p.Pro680=)
c.1983G>A (p.Pro661=)
c.69G>A (p.Pro23=)
n.2262G>A
 dbSNP gnomAD v4
16g.2114831G>ACA276782864PKD1c.2192C>T (p.Pro731Leu)
c.472+2658C>T
c.1123C>T (n.1123C>T)
c.2246C>T (p.Pro749Leu)
c.2174C>T (p.Pro725Leu)
c.2120C>T (p.Pro707Leu)
c.2039C>T (p.Pro680Leu)
c.1982C>T (p.Pro661Leu)
c.68C>T (p.Pro23Leu)
n.2261C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114831G>CCA394389134PKD1c.2192C>G (p.Pro731Arg)
c.472+2658C>G
c.1123C>G (n.1123C>G)
c.2246C>G (p.Pro749Arg)
c.2174C>G (p.Pro725Arg)
c.2120C>G (p.Pro707Arg)
c.2039C>G (p.Pro680Arg)
c.1982C>G (p.Pro661Arg)
c.68C>G (p.Pro23Arg)
n.2261C>G
16g.2114831G=CA2202049948PKD1c.2192C= (p.Pro731=)
c.472+2658C=
c.1123C= (n.1123C=)
c.2246C= (p.Pro749=)
c.2174C= (p.Pro725=)
c.2120C= (p.Pro707=)
c.2039C= (p.Pro680=)
c.1982C= (p.Pro661=)
c.68C= (p.Pro23=)
n.2261C=
16g.2114831G>TCA394389135PKD1c.2192C>A (p.Pro731Gln)
c.472+2658C>A
c.1123C>A (n.1123C>A)
c.2246C>A (p.Pro749Gln)
c.2174C>A (p.Pro725Gln)
c.2120C>A (p.Pro707Gln)
c.2039C>A (p.Pro680Gln)
c.1982C>A (p.Pro661Gln)
c.68C>A (p.Pro23Gln)
n.2261C>A
 gnomAD v4
16g.2114832G>ACA394389137PKD1c.2191C>T (p.Pro731Ser)
c.472+2657C>T
c.1122C>T (n.1122C>T)
c.2245C>T (p.Pro749Ser)
c.2173C>T (p.Pro725Ser)
c.2119C>T (p.Pro707Ser)
c.2038C>T (p.Pro680Ser)
c.1981C>T (p.Pro661Ser)
c.67C>T (p.Pro23Ser)
n.2260C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114832G>CCA394389138PKD1c.2191C>G (p.Pro731Ala)
c.472+2657C>G
c.1122C>G (n.1122C>G)
c.2245C>G (p.Pro749Ala)
c.2173C>G (p.Pro725Ala)
c.2119C>G (p.Pro707Ala)
c.2038C>G (p.Pro680Ala)
c.1981C>G (p.Pro661Ala)
c.67C>G (p.Pro23Ala)
n.2260C>G
16g.2114832G=CA2202049949PKD1c.2191C= (p.Pro731=)
c.472+2657C=
c.1122C= (n.1122C=)
c.2245C= (p.Pro749=)
c.2173C= (p.Pro725=)
c.2119C= (p.Pro707=)
c.2038C= (p.Pro680=)
c.1981C= (p.Pro661=)
c.67C= (p.Pro23=)
n.2260C=
16g.2114832G>TCA394389139PKD1c.2191C>A (p.Pro731Thr)
c.472+2657C>A
c.1122C>A (n.1122C>A)
c.2245C>A (p.Pro749Thr)
c.2173C>A (p.Pro725Thr)
c.2119C>A (p.Pro707Thr)
c.2038C>A (p.Pro680Thr)
c.1981C>A (p.Pro661Thr)
c.67C>A (p.Pro23Thr)
n.2260C>A
 gnomAD v4
16g.2114833C>ACA7833266PKD1c.2190G>T (p.Ser730=)
c.472+2656G>T
c.1121G>T (n.1121G>T)
c.2244G>T (p.Ser748=)
c.2172G>T (p.Ser724=)
c.2118G>T (p.Ser706=)
c.2037G>T (p.Ser679=)
c.1980G>T (p.Ser660=)
c.66G>T (p.Ser22=)
n.2259G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2114833C=CA2202049950PKD1c.2190G= (p.Ser730=)
c.472+2656G=
c.1121G= (n.1121G=)
c.2244G= (p.Ser748=)
c.2172G= (p.Ser724=)
c.2118G= (p.Ser706=)
c.2037G= (p.Ser679=)
c.1980G= (p.Ser660=)
c.66G= (p.Ser22=)
n.2259G=
16g.2114833C>GCA492974289PKD1c.2190G>C (p.Ser730=)
c.472+2656G>C
c.1121G>C (n.1121G>C)
c.2244G>C (p.Ser748=)
c.2172G>C (p.Ser724=)
c.2118G>C (p.Ser706=)
c.2037G>C (p.Ser679=)
c.1980G>C (p.Ser660=)
c.66G>C (p.Ser22=)
n.2259G>C
16g.2114833C>TCA276782866PKD1c.2190G>A (p.Ser730=)
c.472+2656G>A
c.1121G>A (n.1121G>A)
c.2244G>A (p.Ser748=)
c.2172G>A (p.Ser724=)
c.2118G>A (p.Ser706=)
c.2037G>A (p.Ser679=)
c.1980G>A (p.Ser660=)
c.66G>A (p.Ser22=)
n.2259G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114834G>ACA7833267PKD1c.2189C>T (p.Ser730Leu)
c.472+2655C>T
c.1120C>T (n.1120C>T)
c.2243C>T (p.Ser748Leu)
c.2171C>T (p.Ser724Leu)
c.2117C>T (p.Ser706Leu)
c.2036C>T (p.Ser679Leu)
c.1979C>T (p.Ser660Leu)
c.65C>T (p.Ser22Leu)
n.2258C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114834G>CCA394389140PKD1c.2189C>G (p.Ser730Trp)
c.472+2655C>G
c.1120C>G (n.1120C>G)
c.2243C>G (p.Ser748Trp)
c.2171C>G (p.Ser724Trp)
c.2117C>G (p.Ser706Trp)
c.2036C>G (p.Ser679Trp)
c.1979C>G (p.Ser660Trp)
c.65C>G (p.Ser22Trp)
n.2258C>G
16g.2114834G=CA2202049951PKD1c.2189C= (p.Ser730=)
c.472+2655C=
c.1120C= (n.1120C=)
c.2243C= (p.Ser748=)
c.2171C= (p.Ser724=)
c.2117C= (p.Ser706=)
c.2036C= (p.Ser679=)
c.1979C= (p.Ser660=)
c.65C= (p.Ser22=)
n.2258C=
16g.2114834G>TCA394389142PKD1c.2189C>A (p.Ser730Ter)
c.472+2655C>A
c.1120C>A (n.1120C>A)
c.2243C>A (p.Ser748Ter)
c.2171C>A (p.Ser724Ter)
c.2117C>A (p.Ser706Ter)
c.2036C>A (p.Ser679Ter)
c.1979C>A (p.Ser660Ter)
c.65C>A (p.Ser22Ter)
n.2258C>A
 gnomAD v4
16g.2114835A=CA2202049952PKD1c.2188T= (p.Ser730=)
c.472+2654T=
c.1119T= (n.1119T=)
c.2242T= (p.Ser748=)
c.2170T= (p.Ser724=)
c.2116T= (p.Ser706=)
c.2035T= (p.Ser679=)
c.1978T= (p.Ser660=)
c.64T= (p.Ser22=)
n.2257T=
16g.2114835A>CCA394389143PKD1c.2188T>G (p.Ser730Ala)
c.472+2654T>G
c.1119T>G (n.1119T>G)
c.2242T>G (p.Ser748Ala)
c.2170T>G (p.Ser724Ala)
c.2116T>G (p.Ser706Ala)
c.2035T>G (p.Ser679Ala)
c.1978T>G (p.Ser660Ala)
c.64T>G (p.Ser22Ala)
n.2257T>G
16g.2114835A>GCA394389145PKD1c.2188T>C (p.Ser730Pro)
c.472+2654T>C
c.1119T>C (n.1119T>C)
c.2242T>C (p.Ser748Pro)
c.2170T>C (p.Ser724Pro)
c.2116T>C (p.Ser706Pro)
c.2035T>C (p.Ser679Pro)
c.1978T>C (p.Ser660Pro)
c.64T>C (p.Ser22Pro)
n.2257T>C
 dbSNP gnomAD v4
16g.2114835A>TCA394389146PKD1c.2188T>A (p.Ser730Thr)
c.472+2654T>A
c.1119T>A (n.1119T>A)
c.2242T>A (p.Ser748Thr)
c.2170T>A (p.Ser724Thr)
c.2116T>A (p.Ser706Thr)
c.2035T>A (p.Ser679Thr)
c.1978T>A (p.Ser660Thr)
c.64T>A (p.Ser22Thr)
n.2257T>A
16g.2114836G>ACA492974295PKD1c.2187C>T (p.Cys729=)
c.472+2653C>T
c.1118C>T (n.1118C>T)
c.2241C>T (p.Cys747=)
c.2169C>T (p.Cys723=)
c.2115C>T (p.Cys705=)
c.2034C>T (p.Cys678=)
c.1977C>T (p.Cys659=)
c.63C>T (p.Cys21=)
n.2256C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114836G>CCA394389147PKD1c.2187C>G (p.Cys729Trp)
c.472+2653C>G
c.1118C>G (n.1118C>G)
c.2241C>G (p.Cys747Trp)
c.2169C>G (p.Cys723Trp)
c.2115C>G (p.Cys705Trp)
c.2034C>G (p.Cys678Trp)
c.1977C>G (p.Cys659Trp)
c.63C>G (p.Cys21Trp)
n.2256C>G
16g.2114836G=CA2202049953PKD1c.2187C= (p.Cys729=)
c.472+2653C=
c.1118C= (n.1118C=)
c.2241C= (p.Cys747=)
c.2169C= (p.Cys723=)
c.2115C= (p.Cys705=)
c.2034C= (p.Cys678=)
c.1977C= (p.Cys659=)
c.63C= (p.Cys21=)
n.2256C=
16g.2114836G>TCA394389148PKD1c.2187C>A (p.Cys729Ter)
c.472+2653C>A
c.1118C>A (n.1118C>A)
c.2241C>A (p.Cys747Ter)
c.2169C>A (p.Cys723Ter)
c.2115C>A (p.Cys705Ter)
c.2034C>A (p.Cys678Ter)
c.1977C>A (p.Cys659Ter)
c.63C>A (p.Cys21Ter)
n.2256C>A
 gnomAD v4
16g.2114837C>ACA394389150PKD1c.2186G>T (p.Cys729Phe)
c.472+2652G>T
c.1117G>T (n.1117G>T)
c.2240G>T (p.Cys747Phe)
c.2168G>T (p.Cys723Phe)
c.2114G>T (p.Cys705Phe)
c.2033G>T (p.Cys678Phe)
c.1976G>T (p.Cys659Phe)
c.62G>T (p.Cys21Phe)
n.2255G>T
 gnomAD v4
16g.2114837C>GCA394389151PKD1c.2186G>C (p.Cys729Ser)
c.472+2652G>C
c.1117G>C (n.1117G>C)
c.2240G>C (p.Cys747Ser)
c.2168G>C (p.Cys723Ser)
c.2114G>C (p.Cys705Ser)
c.2033G>C (p.Cys678Ser)
c.1976G>C (p.Cys659Ser)
c.62G>C (p.Cys21Ser)
n.2255G>C
16g.2114837C>TCA394389152PKD1c.2186G>A (p.Cys729Tyr)
c.472+2652G>A
c.1117G>A (n.1117G>A)
c.2240G>A (p.Cys747Tyr)
c.2168G>A (p.Cys723Tyr)
c.2114G>A (p.Cys705Tyr)
c.2033G>A (p.Cys678Tyr)
c.1976G>A (p.Cys659Tyr)
c.62G>A (p.Cys21Tyr)
n.2255G>A
 gnomAD v4
16g.2114838A=CA2202049954PKD1c.2185T= (p.Cys729=)
c.472+2651T=
c.1116T= (n.1116T=)
c.2239T= (p.Cys747=)
c.2167T= (p.Cys723=)
c.2113T= (p.Cys705=)
c.2032T= (p.Cys678=)
c.1975T= (p.Cys659=)
c.61T= (p.Cys21=)
n.2254T=
16g.2114838A>CCA394389154PKD1c.2185T>G (p.Cys729Gly)
c.472+2651T>G
c.1116T>G (n.1116T>G)
c.2239T>G (p.Cys747Gly)
c.2167T>G (p.Cys723Gly)
c.2113T>G (p.Cys705Gly)
c.2032T>G (p.Cys678Gly)
c.1975T>G (p.Cys659Gly)
c.61T>G (p.Cys21Gly)
n.2254T>G
16g.2114838A>GCA394389155PKD1c.2185T>C (p.Cys729Arg)
c.472+2651T>C
c.1116T>C (n.1116T>C)
c.2239T>C (p.Cys747Arg)
c.2167T>C (p.Cys723Arg)
c.2113T>C (p.Cys705Arg)
c.2032T>C (p.Cys678Arg)
c.1975T>C (p.Cys659Arg)
c.61T>C (p.Cys21Arg)
n.2254T>C
 dbSNP gnomAD v2 gnomAD v4
16g.2114838A>TCA394389157PKD1c.2185T>A (p.Cys729Ser)
c.472+2651T>A
c.1116T>A (n.1116T>A)
c.2239T>A (p.Cys747Ser)
c.2167T>A (p.Cys723Ser)
c.2113T>A (p.Cys705Ser)
c.2032T>A (p.Cys678Ser)
c.1975T>A (p.Cys659Ser)
c.61T>A (p.Cys21Ser)
n.2254T>A
16g.2114839G>ACA492974302PKD1c.2184C>T (p.His728=)
c.472+2650C>T
c.1115C>T (n.1115C>T)
c.2238C>T (p.His746=)
c.2166C>T (p.His722=)
c.2112C>T (p.His704=)
c.2031C>T (p.His677=)
c.1974C>T (p.His658=)
c.60C>T (p.His20=)
n.2253C>T
16g.2114839G>CCA394389158PKD1c.2184C>G (p.His728Gln)
c.472+2650C>G
c.1115C>G (n.1115C>G)
c.2238C>G (p.His746Gln)
c.2166C>G (p.His722Gln)
c.2112C>G (p.His704Gln)
c.2031C>G (p.His677Gln)
c.1974C>G (p.His658Gln)
c.60C>G (p.His20Gln)
n.2253C>G
16g.2114839G>TCA394389160PKD1c.2184C>A (p.His728Gln)
c.472+2650C>A
c.1115C>A (n.1115C>A)
c.2238C>A (p.His746Gln)
c.2166C>A (p.His722Gln)
c.2112C>A (p.His704Gln)
c.2031C>A (p.His677Gln)
c.1974C>A (p.His658Gln)
c.60C>A (p.His20Gln)
n.2253C>A
 gnomAD v4
16g.2114840T>ACA394389161PKD1c.2183A>T (p.His728Leu)
c.472+2649A>T
c.1114A>T (n.1114A>T)
c.2237A>T (p.His746Leu)
c.2165A>T (p.His722Leu)
c.2111A>T (p.His704Leu)
c.2030A>T (p.His677Leu)
c.1973A>T (p.His658Leu)
c.59A>T (p.His20Leu)
n.2252A>T
16g.2114840T>CCA276782869PKD1c.2183A>G (p.His728Arg)
c.472+2649A>G
c.1114A>G (n.1114A>G)
c.2237A>G (p.His746Arg)
c.2165A>G (p.His722Arg)
c.2111A>G (p.His704Arg)
c.2030A>G (p.His677Arg)
c.1973A>G (p.His658Arg)
c.59A>G (p.His20Arg)
n.2252A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114840T>GCA394389163PKD1c.2183A>C (p.His728Pro)
c.472+2649A>C
c.1114A>C (n.1114A>C)
c.2237A>C (p.His746Pro)
c.2165A>C (p.His722Pro)
c.2111A>C (p.His704Pro)
c.2030A>C (p.His677Pro)
c.1973A>C (p.His658Pro)
c.59A>C (p.His20Pro)
n.2252A>C
 dbSNP
16g.2114840T=CA2202049955PKD1c.2183A= (p.His728=)
c.472+2649A=
c.1114A= (n.1114A=)
c.2237A= (p.His746=)
c.2165A= (p.His722=)
c.2111A= (p.His704=)
c.2030A= (p.His677=)
c.1973A= (p.His658=)
c.59A= (p.His20=)
n.2252A=
16g.2114841G>ACA394389165PKD1c.2182C>T (p.His728Tyr)
c.472+2648C>T
c.1113C>T (n.1113C>T)
c.2236C>T (p.His746Tyr)
c.2164C>T (p.His722Tyr)
c.2110C>T (p.His704Tyr)
c.2029C>T (p.His677Tyr)
c.1972C>T (p.His658Tyr)
c.58C>T (p.His20Tyr)
n.2251C>T
 gnomAD v4
16g.2114841G>CCA394389166PKD1c.2182C>G (p.His728Asp)
c.472+2648C>G
c.1113C>G (n.1113C>G)
c.2236C>G (p.His746Asp)
c.2164C>G (p.His722Asp)
c.2110C>G (p.His704Asp)
c.2029C>G (p.His677Asp)
c.1972C>G (p.His658Asp)
c.58C>G (p.His20Asp)
n.2251C>G
 gnomAD v4
16g.2114841G>TCA394389167PKD1c.2182C>A (p.His728Asn)
c.472+2648C>A
c.1113C>A (n.1113C>A)
c.2236C>A (p.His746Asn)
c.2164C>A (p.His722Asn)
c.2110C>A (p.His704Asn)
c.2029C>A (p.His677Asn)
c.1972C>A (p.His658Asn)
c.58C>A (p.His20Asn)
n.2251C>A
16g.2114842_2114844delCA2575879054PKD1c.2180_2182del (p.Leu727del)
c.472+2646_472+2648del
c.1111_1113del (n.1111_1113del)
c.2234_2236del (p.Leu745del)
c.2162_2164del (p.Leu721del)
c.2108_2110del (p.Leu703del)
c.2027_2029del (p.Leu676del)
c.1970_1972del (p.Leu657del)
c.56_58del (p.Leu19del)
n.2249_2251del
16g.2114842C>ACA492974316PKD1c.2181G>T (p.Leu727=)
c.472+2647G>T
c.1112G>T (n.1112G>T)
c.2235G>T (p.Leu745=)
c.2163G>T (p.Leu721=)
c.2109G>T (p.Leu703=)
c.2028G>T (p.Leu676=)
c.1971G>T (p.Leu657=)
c.57G>T (p.Leu19=)
n.2250G>T
 gnomAD v4
16g.2114842C>GCA492974317PKD1c.2181G>C (p.Leu727=)
c.472+2647G>C
c.1112G>C (n.1112G>C)
c.2235G>C (p.Leu745=)
c.2163G>C (p.Leu721=)
c.2109G>C (p.Leu703=)
c.2028G>C (p.Leu676=)
c.1971G>C (p.Leu657=)
c.57G>C (p.Leu19=)
n.2250G>C
16g.2114842C>TCA492974319PKD1c.2181G>A (p.Leu727=)
c.472+2647G>A
c.1112G>A (n.1112G>A)
c.2235G>A (p.Leu745=)
c.2163G>A (p.Leu721=)
c.2109G>A (p.Leu703=)
c.2028G>A (p.Leu676=)
c.1971G>A (p.Leu657=)
c.57G>A (p.Leu19=)
n.2250G>A
16g.2114843A=CA2202049956PKD1c.2180T= (p.Leu727=)
c.472+2646T=
c.1111T= (n.1111T=)
c.2234T= (p.Leu745=)
c.2162T= (p.Leu721=)
c.2108T= (p.Leu703=)
c.2027T= (p.Leu676=)
c.1970T= (p.Leu657=)
c.56T= (p.Leu19=)
n.2249T=
16g.2114843A>CCA394389171PKD1c.2180T>G (p.Leu727Arg)
c.472+2646T>G
c.1111T>G (n.1111T>G)
c.2234T>G (p.Leu745Arg)
c.2162T>G (p.Leu721Arg)
c.2108T>G (p.Leu703Arg)
c.2027T>G (p.Leu676Arg)
c.1970T>G (p.Leu657Arg)
c.56T>G (p.Leu19Arg)
n.2249T>G
 ClinVar dbSNP gnomAD v4
16g.2114843A>GCA276782871PKD1c.2180T>C (p.Leu727Pro)
c.472+2646T>C
c.1111T>C (n.1111T>C)
c.2234T>C (p.Leu745Pro)
c.2162T>C (p.Leu721Pro)
c.2108T>C (p.Leu703Pro)
c.2027T>C (p.Leu676Pro)
c.1970T>C (p.Leu657Pro)
c.56T>C (p.Leu19Pro)
n.2249T>C
 ClinVar dbSNP gnomAD v4
16g.2114843A>TCA394389169PKD1c.2180T>A (p.Leu727Gln)
c.472+2646T>A
c.1111T>A (n.1111T>A)
c.2234T>A (p.Leu745Gln)
c.2162T>A (p.Leu721Gln)
c.2108T>A (p.Leu703Gln)
c.2027T>A (p.Leu676Gln)
c.1970T>A (p.Leu657Gln)
c.56T>A (p.Leu19Gln)
n.2249T>A
 ClinVar dbSNP
16g.2114844G>ACA492974324PKD1c.2179C>T (p.Leu727=)
c.472+2645C>T
c.1110C>T (n.1110C>T)
c.2233C>T (p.Leu745=)
c.2161C>T (p.Leu721=)
c.2107C>T (p.Leu703=)
c.2026C>T (p.Leu676=)
c.1969C>T (p.Leu657=)
c.55C>T (p.Leu19=)
n.2248C>T
 gnomAD v4
16g.2114844G>CCA394389173PKD1c.2179C>G (p.Leu727Val)
c.472+2645C>G
c.1110C>G (n.1110C>G)
c.2233C>G (p.Leu745Val)
c.2161C>G (p.Leu721Val)
c.2107C>G (p.Leu703Val)
c.2026C>G (p.Leu676Val)
c.1969C>G (p.Leu657Val)
c.55C>G (p.Leu19Val)
n.2248C>G
16g.2114844G>TCA394389176PKD1c.2179C>A (p.Leu727Met)
c.472+2645C>A
c.1110C>A (n.1110C>A)
c.2233C>A (p.Leu745Met)
c.2161C>A (p.Leu721Met)
c.2107C>A (p.Leu703Met)
c.2026C>A (p.Leu676Met)
c.1969C>A (p.Leu657Met)
c.55C>A (p.Leu19Met)
n.2248C>A
 gnomAD v4
16g.2114845G>ACA276782873PKD1c.2178C>T (p.Leu726=)
c.472+2644C>T
c.1109C>T (n.1109C>T)
c.2232C>T (p.Leu744=)
c.2160C>T (p.Leu720=)
c.2106C>T (p.Leu702=)
c.2025C>T (p.Leu675=)
c.1968C>T (p.Leu656=)
c.54C>T (p.Leu18=)
n.2247C>T
 dbSNP gnomAD v4
16g.2114845G>CCA492974328PKD1c.2178C>G (p.Leu726=)
c.472+2644C>G
c.1109C>G (n.1109C>G)
c.2232C>G (p.Leu744=)
c.2160C>G (p.Leu720=)
c.2106C>G (p.Leu702=)
c.2025C>G (p.Leu675=)
c.1968C>G (p.Leu656=)
c.54C>G (p.Leu18=)
n.2247C>G
 dbSNP
16g.2114845G=CA2202049957PKD1c.2178C= (p.Leu726=)
c.472+2644C=
c.1109C= (n.1109C=)
c.2232C= (p.Leu744=)
c.2160C= (p.Leu720=)
c.2106C= (p.Leu702=)
c.2025C= (p.Leu675=)
c.1968C= (p.Leu656=)
c.54C= (p.Leu18=)
n.2247C=
16g.2114845G>TCA492974330PKD1c.2178C>A (p.Leu726=)
c.472+2644C>A
c.1109C>A (n.1109C>A)
c.2232C>A (p.Leu744=)
c.2160C>A (p.Leu720=)
c.2106C>A (p.Leu702=)
c.2025C>A (p.Leu675=)
c.1968C>A (p.Leu656=)
c.54C>A (p.Leu18=)
n.2247C>A
 gnomAD v4
16g.2114846A>CCA394389178PKD1c.2177T>G (p.Leu726Arg)
c.472+2643T>G
c.1108T>G (n.1108T>G)
c.2231T>G (p.Leu744Arg)
c.2159T>G (p.Leu720Arg)
c.2105T>G (p.Leu702Arg)
c.2024T>G (p.Leu675Arg)
c.1967T>G (p.Leu656Arg)
c.53T>G (p.Leu18Arg)
n.2246T>G
16g.2114846A>GCA394389180PKD1c.2177T>C (p.Leu726Pro)
c.472+2643T>C
c.1108T>C (n.1108T>C)
c.2231T>C (p.Leu744Pro)
c.2159T>C (p.Leu720Pro)
c.2105T>C (p.Leu702Pro)
c.2024T>C (p.Leu675Pro)
c.1967T>C (p.Leu656Pro)
c.53T>C (p.Leu18Pro)
n.2246T>C
16g.2114846A>TCA394389181PKD1c.2177T>A (p.Leu726His)
c.472+2643T>A
c.1108T>A (n.1108T>A)
c.2231T>A (p.Leu744His)
c.2159T>A (p.Leu720His)
c.2105T>A (p.Leu702His)
c.2024T>A (p.Leu675His)
c.1967T>A (p.Leu656His)
c.53T>A (p.Leu18His)
n.2246T>A
16g.2114847G>ACA7833268PKD1c.2176C>T (p.Leu726Phe)
c.472+2642C>T
c.1107C>T (n.1107C>T)
c.2230C>T (p.Leu744Phe)
c.2158C>T (p.Leu720Phe)
c.2104C>T (p.Leu702Phe)
c.2023C>T (p.Leu675Phe)
c.1966C>T (p.Leu656Phe)
c.52C>T (p.Leu18Phe)
n.2245C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114847G>CCA394389183PKD1c.2176C>G (p.Leu726Val)
c.472+2642C>G
c.1107C>G (n.1107C>G)
c.2230C>G (p.Leu744Val)
c.2158C>G (p.Leu720Val)
c.2104C>G (p.Leu702Val)
c.2023C>G (p.Leu675Val)
c.1966C>G (p.Leu656Val)
c.52C>G (p.Leu18Val)
n.2245C>G
16g.2114847G=CA2202049958PKD1c.2176C= (p.Leu726=)
c.472+2642C=
c.1107C= (n.1107C=)
c.2230C= (p.Leu744=)
c.2158C= (p.Leu720=)
c.2104C= (p.Leu702=)
c.2023C= (p.Leu675=)
c.1966C= (p.Leu656=)
c.52C= (p.Leu18=)
n.2245C=
16g.2114847G>TCA394389185PKD1c.2176C>A (p.Leu726Ile)
c.472+2642C>A
c.1107C>A (n.1107C>A)
c.2230C>A (p.Leu744Ile)
c.2158C>A (p.Leu720Ile)
c.2104C>A (p.Leu702Ile)
c.2023C>A (p.Leu675Ile)
c.1966C>A (p.Leu656Ile)
c.52C>A (p.Leu18Ile)
n.2245C>A
 gnomAD v4
16g.2114848G>ACA492974344PKD1c.2175C>T (p.Ala725=)
c.472+2641C>T
c.1106C>T (n.1106C>T)
c.2229C>T (p.Ala743=)
c.2157C>T (p.Ala719=)
c.2103C>T (p.Ala701=)
c.2022C>T (p.Ala674=)
c.1965C>T (p.Ala655=)
c.51C>T (p.Ala17=)
n.2244C>T
 dbSNP gnomAD v2 gnomAD v4
16g.2114848G>CCA492974346PKD1c.2175C>G (p.Ala725=)
c.472+2641C>G
c.1106C>G (n.1106C>G)
c.2229C>G (p.Ala743=)
c.2157C>G (p.Ala719=)
c.2103C>G (p.Ala701=)
c.2022C>G (p.Ala674=)
c.1965C>G (p.Ala655=)
c.51C>G (p.Ala17=)
n.2244C>G
 gnomAD v4
16g.2114848G=CA2202049959PKD1c.2175C= (p.Ala725=)
c.472+2641C=
c.1106C= (n.1106C=)
c.2229C= (p.Ala743=)
c.2157C= (p.Ala719=)
c.2103C= (p.Ala701=)
c.2022C= (p.Ala674=)
c.1965C= (p.Ala655=)
c.51C= (p.Ala17=)
n.2244C=
16g.2114848G>TCA492974347PKD1c.2175C>A (p.Ala725=)
c.472+2641C>A
c.1106C>A (n.1106C>A)
c.2229C>A (p.Ala743=)
c.2157C>A (p.Ala719=)
c.2103C>A (p.Ala701=)
c.2022C>A (p.Ala674=)
c.1965C>A (p.Ala655=)
c.51C>A (p.Ala17=)
n.2244C>A
16g.2114849G>ACA394389186PKD1c.2174C>T (p.Ala725Val)
c.472+2640C>T
c.1105C>T (n.1105C>T)
c.2228C>T (p.Ala743Val)
c.2156C>T (p.Ala719Val)
c.2102C>T (p.Ala701Val)
c.2021C>T (p.Ala674Val)
c.1964C>T (p.Ala655Val)
c.50C>T (p.Ala17Val)
n.2243C>T
 gnomAD v4
16g.2114849G>CCA394389188PKD1c.2174C>G (p.Ala725Gly)
c.472+2640C>G
c.1105C>G (n.1105C>G)
c.2228C>G (p.Ala743Gly)
c.2156C>G (p.Ala719Gly)
c.2102C>G (p.Ala701Gly)
c.2021C>G (p.Ala674Gly)
c.1964C>G (p.Ala655Gly)
c.50C>G (p.Ala17Gly)
n.2243C>G
16g.2114849G>TCA394389189PKD1c.2174C>A (p.Ala725Asp)
c.472+2640C>A
c.1105C>A (n.1105C>A)
c.2228C>A (p.Ala743Asp)
c.2156C>A (p.Ala719Asp)
c.2102C>A (p.Ala701Asp)
c.2021C>A (p.Ala674Asp)
c.1964C>A (p.Ala655Asp)
c.50C>A (p.Ala17Asp)
n.2243C>A
 gnomAD v4
16g.2114850C>ACA394389191PKD1c.2173G>T (p.Ala725Ser)
c.472+2639G>T
c.1104G>T (n.1104G>T)
c.2227G>T (p.Ala743Ser)
c.2155G>T (p.Ala719Ser)
c.2101G>T (p.Ala701Ser)
c.2020G>T (p.Ala674Ser)
c.1963G>T (p.Ala655Ser)
c.49G>T (p.Ala17Ser)
n.2242G>T
 gnomAD v4
16g.2114850C=CA2202049960PKD1c.2173G= (p.Ala725=)
c.472+2639G=
c.1104G= (n.1104G=)
c.2227G= (p.Ala743=)
c.2155G= (p.Ala719=)
c.2101G= (p.Ala701=)
c.2020G= (p.Ala674=)
c.1963G= (p.Ala655=)
c.49G= (p.Ala17=)
n.2242G=
16g.2114850C>GCA394389192PKD1c.2173G>C (p.Ala725Pro)
c.472+2639G>C
c.1104G>C (n.1104G>C)
c.2227G>C (p.Ala743Pro)
c.2155G>C (p.Ala719Pro)
c.2101G>C (p.Ala701Pro)
c.2020G>C (p.Ala674Pro)
c.1963G>C (p.Ala655Pro)
c.49G>C (p.Ala17Pro)
n.2242G>C
16g.2114850C>TCA7833269PKD1c.2173G>A (p.Ala725Thr)
c.472+2639G>A
c.1104G>A (n.1104G>A)
c.2227G>A (p.Ala743Thr)
c.2155G>A (p.Ala719Thr)
c.2101G>A (p.Ala701Thr)
c.2020G>A (p.Ala674Thr)
c.1963G>A (p.Ala655Thr)
c.49G>A (p.Ala17Thr)
n.2242G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114851G>ACA492974363PKD1c.2172C>T (p.Gly724=)
c.472+2638C>T
c.1103C>T (n.1103C>T)
c.2226C>T (p.Gly742=)
c.2154C>T (p.Gly718=)
c.2100C>T (p.Gly700=)
c.2019C>T (p.Gly673=)
c.1962C>T (p.Gly654=)
c.48C>T (p.Gly16=)
n.2241C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114851G>CCA492974361PKD1c.2172C>G (p.Gly724=)
c.472+2638C>G
c.1103C>G (n.1103C>G)
c.2226C>G (p.Gly742=)
c.2154C>G (p.Gly718=)
c.2100C>G (p.Gly700=)
c.2019C>G (p.Gly673=)
c.1962C>G (p.Gly654=)
c.48C>G (p.Gly16=)
n.2241C>G
16g.2114851G=CA2202049961PKD1c.2172C= (p.Gly724=)
c.472+2638C=
c.1103C= (n.1103C=)
c.2226C= (p.Gly742=)
c.2154C= (p.Gly718=)
c.2100C= (p.Gly700=)
c.2019C= (p.Gly673=)
c.1962C= (p.Gly654=)
c.48C= (p.Gly16=)
n.2241C=
16g.2114851G>TCA492974359PKD1c.2172C>A (p.Gly724=)
c.472+2638C>A
c.1103C>A (n.1103C>A)
c.2226C>A (p.Gly742=)
c.2154C>A (p.Gly718=)
c.2100C>A (p.Gly700=)
c.2019C>A (p.Gly673=)
c.1962C>A (p.Gly654=)
c.48C>A (p.Gly16=)
n.2241C>A
 dbSNP gnomAD v4
16g.2114853_2114862delCA2695222571PKD1c.2163_2172del (p.Gly722ProfsTer?)
c.472+2629_472+2638del
c.1094_1103del (n.1094_1103del)
c.2217_2226del (p.Gly740ProfsTer?)
c.2145_2154del (p.Gly716ProfsTer?)
c.2091_2100del (p.Gly698ProfsTer?)
c.2010_2019del (p.Gly671ProfsTer?)
c.1953_1962del (p.Gly652ProfsTer?)
c.39_48del (p.Gly14ProfsTer?)
n.2232_2241del
16g.2114852C>ACA394389197PKD1c.2171G>T (p.Gly724Val)
c.472+2637G>T
c.1102G>T (n.1102G>T)
c.2225G>T (p.Gly742Val)
c.2153G>T (p.Gly718Val)
c.2099G>T (p.Gly700Val)
c.2018G>T (p.Gly673Val)
c.1961G>T (p.Gly654Val)
c.47G>T (p.Gly16Val)
n.2240G>T
 gnomAD v4
16g.2114852C>GCA394389194PKD1c.2171G>C (p.Gly724Ala)
c.472+2637G>C
c.1102G>C (n.1102G>C)
c.2225G>C (p.Gly742Ala)
c.2153G>C (p.Gly718Ala)
c.2099G>C (p.Gly700Ala)
c.2018G>C (p.Gly673Ala)
c.1961G>C (p.Gly654Ala)
c.47G>C (p.Gly16Ala)
n.2240G>C
16g.2114852C>TCA394389196PKD1c.2171G>A (p.Gly724Asp)
c.472+2637G>A
c.1102G>A (n.1102G>A)
c.2225G>A (p.Gly742Asp)
c.2153G>A (p.Gly718Asp)
c.2099G>A (p.Gly700Asp)
c.2018G>A (p.Gly673Asp)
c.1961G>A (p.Gly654Asp)
c.47G>A (p.Gly16Asp)
n.2240G>A
16g.2114853C>ACA394389199PKD1c.2170G>T (p.Gly724Cys)
c.472+2636G>T
c.1101G>T (n.1101G>T)
c.2224G>T (p.Gly742Cys)
c.2152G>T (p.Gly718Cys)
c.2098G>T (p.Gly700Cys)
c.2017G>T (p.Gly673Cys)
c.1960G>T (p.Gly654Cys)
c.46G>T (p.Gly16Cys)
n.2239G>T
 ClinVar gnomAD v4
16g.2114853C>GCA394389200PKD1c.2170G>C (p.Gly724Arg)
c.472+2636G>C
c.1101G>C (n.1101G>C)
c.2224G>C (p.Gly742Arg)
c.2152G>C (p.Gly718Arg)
c.2098G>C (p.Gly700Arg)
c.2017G>C (p.Gly673Arg)
c.1960G>C (p.Gly654Arg)
c.46G>C (p.Gly16Arg)
n.2239G>C
16g.2114853C>TCA394389201PKD1c.2170G>A (p.Gly724Ser)
c.472+2636G>A
c.1101G>A (n.1101G>A)
c.2224G>A (p.Gly742Ser)
c.2152G>A (p.Gly718Ser)
c.2098G>A (p.Gly700Ser)
c.2017G>A (p.Gly673Ser)
c.1960G>A (p.Gly654Ser)
c.46G>A (p.Gly16Ser)
n.2239G>A
16g.2114854A=CA2202049962PKD1c.2169T= (p.Pro723=)
c.472+2635T=
c.1100T= (n.1100T=)
c.2223T= (p.Pro741=)
c.2151T= (p.Pro717=)
c.2097T= (p.Pro699=)
c.2016T= (p.Pro672=)
c.1959T= (p.Pro653=)
c.45T= (p.Pro15=)
n.2238T=
16g.2114854A>CCA276782875PKD1c.2169T>G (p.Pro723=)
c.472+2635T>G
c.1100T>G (n.1100T>G)
c.2223T>G (p.Pro741=)
c.2151T>G (p.Pro717=)
c.2097T>G (p.Pro699=)
c.2016T>G (p.Pro672=)
c.1959T>G (p.Pro653=)
c.45T>G (p.Pro15=)
n.2238T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114854A>GCA492974375PKD1c.2169T>C (p.Pro723=)
c.472+2635T>C
c.1100T>C (n.1100T>C)
c.2223T>C (p.Pro741=)
c.2151T>C (p.Pro717=)
c.2097T>C (p.Pro699=)
c.2016T>C (p.Pro672=)
c.1959T>C (p.Pro653=)
c.45T>C (p.Pro15=)
n.2238T>C
 gnomAD v4
16g.2114854A>TCA492974377PKD1c.2169T>A (p.Pro723=)
c.472+2635T>A
c.1100T>A (n.1100T>A)
c.2223T>A (p.Pro741=)
c.2151T>A (p.Pro717=)
c.2097T>A (p.Pro699=)
c.2016T>A (p.Pro672=)
c.1959T>A (p.Pro653=)
c.45T>A (p.Pro15=)
n.2238T>A
16g.2114855G>ACA394389203PKD1c.2168C>T (p.Pro723Leu)
c.472+2634C>T
c.1099C>T (n.1099C>T)
c.2222C>T (p.Pro741Leu)
c.2150C>T (p.Pro717Leu)
c.2096C>T (p.Pro699Leu)
c.2015C>T (p.Pro672Leu)
c.1958C>T (p.Pro653Leu)
c.44C>T (p.Pro15Leu)
n.2237C>T
 gnomAD v4
16g.2114855G>CCA394389204PKD1c.2168C>G (p.Pro723Arg)
c.472+2634C>G
c.1099C>G (n.1099C>G)
c.2222C>G (p.Pro741Arg)
c.2150C>G (p.Pro717Arg)
c.2096C>G (p.Pro699Arg)
c.2015C>G (p.Pro672Arg)
c.1958C>G (p.Pro653Arg)
c.44C>G (p.Pro15Arg)
n.2237C>G
16g.2114855G>TCA394389206PKD1c.2168C>A (p.Pro723His)
c.472+2634C>A
c.1099C>A (n.1099C>A)
c.2222C>A (p.Pro741His)
c.2150C>A (p.Pro717His)
c.2096C>A (p.Pro699His)
c.2015C>A (p.Pro672His)
c.1958C>A (p.Pro653His)
c.44C>A (p.Pro15His)
n.2237C>A
 gnomAD v4
16g.2114856G>ACA276782877PKD1c.2167C>T (p.Pro723Ser)
c.472+2633C>T
c.1098C>T (n.1098C>T)
c.2221C>T (p.Pro741Ser)
c.2149C>T (p.Pro717Ser)
c.2095C>T (p.Pro699Ser)
c.2014C>T (p.Pro672Ser)
c.1957C>T (p.Pro653Ser)
c.43C>T (p.Pro15Ser)
n.2236C>T
 dbSNP gnomAD v3 gnomAD v4
16g.2114856G>CCA394389208PKD1c.2167C>G (p.Pro723Ala)
c.472+2633C>G
c.1098C>G (n.1098C>G)
c.2221C>G (p.Pro741Ala)
c.2149C>G (p.Pro717Ala)
c.2095C>G (p.Pro699Ala)
c.2014C>G (p.Pro672Ala)
c.1957C>G (p.Pro653Ala)
c.43C>G (p.Pro15Ala)
n.2236C>G
16g.2114856G=CA2202049963PKD1c.2167C= (p.Pro723=)
c.472+2633C=
c.1098C= (n.1098C=)
c.2221C= (p.Pro741=)
c.2149C= (p.Pro717=)
c.2095C= (p.Pro699=)
c.2014C= (p.Pro672=)
c.1957C= (p.Pro653=)
c.43C= (p.Pro15=)
n.2236C=
16g.2114856G>TCA394389209PKD1c.2167C>A (p.Pro723Thr)
c.472+2633C>A
c.1098C>A (n.1098C>A)
c.2221C>A (p.Pro741Thr)
c.2149C>A (p.Pro717Thr)
c.2095C>A (p.Pro699Thr)
c.2014C>A (p.Pro672Thr)
c.1957C>A (p.Pro653Thr)
c.43C>A (p.Pro15Thr)
n.2236C>A
 gnomAD v4
16g.2114857G>ACA492974395PKD1c.2166C>T (p.Gly722=)
c.472+2632C>T
c.1097C>T (n.1097C>T)
c.2220C>T (p.Gly740=)
c.2148C>T (p.Gly716=)
c.2094C>T (p.Gly698=)
c.2013C>T (p.Gly671=)
c.1956C>T (p.Gly652=)
c.42C>T (p.Gly14=)
n.2235C>T
 dbSNP gnomAD v3 gnomAD v4
16g.2114857G>CCA492974388PKD1c.2166C>G (p.Gly722=)
c.472+2632C>G
c.1097C>G (n.1097C>G)
c.2220C>G (p.Gly740=)
c.2148C>G (p.Gly716=)
c.2094C>G (p.Gly698=)
c.2013C>G (p.Gly671=)
c.1956C>G (p.Gly652=)
c.42C>G (p.Gly14=)
n.2235C>G
16g.2114857G>TCA492974393PKD1c.2166C>A (p.Gly722=)
c.472+2632C>A
c.1097C>A (n.1097C>A)
c.2220C>A (p.Gly740=)
c.2148C>A (p.Gly716=)
c.2094C>A (p.Gly698=)
c.2013C>A (p.Gly671=)
c.1956C>A (p.Gly652=)
c.42C>A (p.Gly14=)
n.2235C>A
 gnomAD v4
16g.2114858C>ACA394389211PKD1c.2165G>T (p.Gly722Val)
c.472+2631G>T
c.1096G>T (n.1096G>T)
c.2219G>T (p.Gly740Val)
c.2147G>T (p.Gly716Val)
c.2093G>T (p.Gly698Val)
c.2012G>T (p.Gly671Val)
c.1955G>T (p.Gly652Val)
c.41G>T (p.Gly14Val)
n.2234G>T
 gnomAD v4
16g.2114858C>GCA394389213PKD1c.2165G>C (p.Gly722Ala)
c.472+2631G>C
c.1096G>C (n.1096G>C)
c.2219G>C (p.Gly740Ala)
c.2147G>C (p.Gly716Ala)
c.2093G>C (p.Gly698Ala)
c.2012G>C (p.Gly671Ala)
c.1955G>C (p.Gly652Ala)
c.41G>C (p.Gly14Ala)
n.2234G>C
16g.2114858C>TCA394389214PKD1c.2165G>A (p.Gly722Asp)
c.472+2631G>A
c.1096G>A (n.1096G>A)
c.2219G>A (p.Gly740Asp)
c.2147G>A (p.Gly716Asp)
c.2093G>A (p.Gly698Asp)
c.2012G>A (p.Gly671Asp)
c.1955G>A (p.Gly652Asp)
c.41G>A (p.Gly14Asp)
n.2234G>A
 gnomAD v4
16g.2114859delCA2631142029PKD1c.2165del (p.Gly722AlafsTer?)
c.472+2631del
c.1096del (n.1096del)
c.2219del (p.Gly740AlafsTer?)
c.2147del (p.Gly716AlafsTer?)
c.2093del (p.Gly698AlafsTer?)
c.2012del (p.Gly671AlafsTer?)
c.1955del (p.Gly652AlafsTer?)
c.41del (p.Gly14AlafsTer?)
n.2234del
 gnomAD v4
16g.2114859C>ACA394389218PKD1c.2164G>T (p.Gly722Cys)
c.472+2630G>T
c.1095G>T (n.1095G>T)
c.2218G>T (p.Gly740Cys)
c.2146G>T (p.Gly716Cys)
c.2092G>T (p.Gly698Cys)
c.2011G>T (p.Gly671Cys)
c.1954G>T (p.Gly652Cys)
c.40G>T (p.Gly14Cys)
n.2233G>T
 gnomAD v4
16g.2114859C>GCA394389217PKD1c.2164G>C (p.Gly722Arg)
c.472+2630G>C
c.1095G>C (n.1095G>C)
c.2218G>C (p.Gly740Arg)
c.2146G>C (p.Gly716Arg)
c.2092G>C (p.Gly698Arg)
c.2011G>C (p.Gly671Arg)
c.1954G>C (p.Gly652Arg)
c.40G>C (p.Gly14Arg)
n.2233G>C
16g.2114859C>TCA394389215PKD1c.2164G>A (p.Gly722Ser)
c.472+2630G>A
c.1095G>A (n.1095G>A)
c.2218G>A (p.Gly740Ser)
c.2146G>A (p.Gly716Ser)
c.2092G>A (p.Gly698Ser)
c.2011G>A (p.Gly671Ser)
c.1954G>A (p.Gly652Ser)
c.40G>A (p.Gly14Ser)
n.2233G>A
 gnomAD v4
16g.2114860A=CA2202049964PKD1c.2163T= (p.Ala721=)
c.472+2629T=
c.1094T= (n.1094T=)
c.2217T= (p.Ala739=)
c.2145T= (p.Ala715=)
c.2091T= (p.Ala697=)
c.2010T= (p.Ala670=)
c.1953T= (p.Ala651=)
c.39T= (p.Ala13=)
n.2232T=
16g.2114860A>CCA7833270PKD1c.2163T>G (p.Ala721=)
c.472+2629T>G
c.1094T>G (n.1094T>G)
c.2217T>G (p.Ala739=)
c.2145T>G (p.Ala715=)
c.2091T>G (p.Ala697=)
c.2010T>G (p.Ala670=)
c.1953T>G (p.Ala651=)
c.39T>G (p.Ala13=)
n.2232T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2114860A>GCA492974405PKD1c.2163T>C (p.Ala721=)
c.472+2629T>C
c.1094T>C (n.1094T>C)
c.2217T>C (p.Ala739=)
c.2145T>C (p.Ala715=)
c.2091T>C (p.Ala697=)
c.2010T>C (p.Ala670=)
c.1953T>C (p.Ala651=)
c.39T>C (p.Ala13=)
n.2232T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114860A>TCA492974407PKD1c.2163T>A (p.Ala721=)
c.472+2629T>A
c.1094T>A (n.1094T>A)
c.2217T>A (p.Ala739=)
c.2145T>A (p.Ala715=)
c.2091T>A (p.Ala697=)
c.2010T>A (p.Ala670=)
c.1953T>A (p.Ala651=)
c.39T>A (p.Ala13=)
n.2232T>A
 gnomAD v4
16g.2114861G>ACA394389221PKD1c.2162C>T (p.Ala721Val)
c.472+2628C>T
c.1093C>T (n.1093C>T)
c.2216C>T (p.Ala739Val)
c.2144C>T (p.Ala715Val)
c.2090C>T (p.Ala697Val)
c.2009C>T (p.Ala670Val)
c.1952C>T (p.Ala651Val)
c.38C>T (p.Ala13Val)
n.2231C>T
16g.2114861G>CCA394389222PKD1c.2162C>G (p.Ala721Gly)
c.472+2628C>G
c.1093C>G (n.1093C>G)
c.2216C>G (p.Ala739Gly)
c.2144C>G (p.Ala715Gly)
c.2090C>G (p.Ala697Gly)
c.2009C>G (p.Ala670Gly)
c.1952C>G (p.Ala651Gly)
c.38C>G (p.Ala13Gly)
n.2231C>G
 gnomAD v4
16g.2114861G>TCA394389223PKD1c.2162C>A (p.Ala721Asp)
c.472+2628C>A
c.1093C>A (n.1093C>A)
c.2216C>A (p.Ala739Asp)
c.2144C>A (p.Ala715Asp)
c.2090C>A (p.Ala697Asp)
c.2009C>A (p.Ala670Asp)
c.1952C>A (p.Ala651Asp)
c.38C>A (p.Ala13Asp)
n.2231C>A
 gnomAD v4
16g.2114862C>ACA394389225PKD1c.2161G>T (p.Ala721Ser)
c.472+2627G>T
c.1092G>T (n.1092G>T)
c.2215G>T (p.Ala739Ser)
c.2143G>T (p.Ala715Ser)
c.2089G>T (p.Ala697Ser)
c.2008G>T (p.Ala670Ser)
c.1951G>T (p.Ala651Ser)
c.37G>T (p.Ala13Ser)
n.2230G>T
 gnomAD v4
16g.2114862C=CA2202049965PKD1c.2161G= (p.Ala721=)
c.472+2627G=
c.1092G= (n.1092G=)
c.2215G= (p.Ala739=)
c.2143G= (p.Ala715=)
c.2089G= (p.Ala697=)
c.2008G= (p.Ala670=)
c.1951G= (p.Ala651=)
c.37G= (p.Ala13=)
n.2230G=
16g.2114862C>GCA394389226PKD1c.2161G>C (p.Ala721Pro)
c.472+2627G>C
c.1092G>C (n.1092G>C)
c.2215G>C (p.Ala739Pro)
c.2143G>C (p.Ala715Pro)
c.2089G>C (p.Ala697Pro)
c.2008G>C (p.Ala670Pro)
c.1951G>C (p.Ala651Pro)
c.37G>C (p.Ala13Pro)
n.2230G>C
 gnomAD v4
16g.2114862C>TCA394389228PKD1c.2161G>A (p.Ala721Thr)
c.472+2627G>A
c.1092G>A (n.1092G>A)
c.2215G>A (p.Ala739Thr)
c.2143G>A (p.Ala715Thr)
c.2089G>A (p.Ala697Thr)
c.2008G>A (p.Ala670Thr)
c.1951G>A (p.Ala651Thr)
c.37G>A (p.Ala13Thr)
n.2230G>A
 ClinVar dbSNP gnomAD v4
16g.2114863G>ACA7833271PKD1c.2160C>T (p.Asp720=)
c.472+2626C>T
c.1091C>T (n.1091C>T)
c.2214C>T (p.Asp738=)
c.2142C>T (p.Asp714=)
c.2088C>T (p.Asp696=)
c.2007C>T (p.Asp669=)
c.1950C>T (p.Asp650=)
c.36C>T (p.Asp12=)
n.2229C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114863G>CCA394389230PKD1c.2160C>G (p.Asp720Glu)
c.472+2626C>G
c.1091C>G (n.1091C>G)
c.2214C>G (p.Asp738Glu)
c.2142C>G (p.Asp714Glu)
c.2088C>G (p.Asp696Glu)
c.2007C>G (p.Asp669Glu)
c.1950C>G (p.Asp650Glu)
c.36C>G (p.Asp12Glu)
n.2229C>G
16g.2114863G=CA2202049966PKD1c.2160C= (p.Asp720=)
c.472+2626C=
c.1091C= (n.1091C=)
c.2214C= (p.Asp738=)
c.2142C= (p.Asp714=)
c.2088C= (p.Asp696=)
c.2007C= (p.Asp669=)
c.1950C= (p.Asp650=)
c.36C= (p.Asp12=)
n.2229C=
16g.2114863G>TCA394389231PKD1c.2160C>A (p.Asp720Glu)
c.472+2626C>A
c.1091C>A (n.1091C>A)
c.2214C>A (p.Asp738Glu)
c.2142C>A (p.Asp714Glu)
c.2088C>A (p.Asp696Glu)
c.2007C>A (p.Asp669Glu)
c.1950C>A (p.Asp650Glu)
c.36C>A (p.Asp12Glu)
n.2229C>A
 gnomAD v4
16g.2114864T>ACA394389232PKD1c.2159A>T (p.Asp720Val)
c.472+2625A>T
c.1090A>T (n.1090A>T)
c.2213A>T (p.Asp738Val)
c.2141A>T (p.Asp714Val)
c.2087A>T (p.Asp696Val)
c.2006A>T (p.Asp669Val)
c.1949A>T (p.Asp650Val)
c.35A>T (p.Asp12Val)
n.2228A>T
16g.2114864T>CCA394389234PKD1c.2159A>G (p.Asp720Gly)
c.472+2625A>G
c.1090A>G (n.1090A>G)
c.2213A>G (p.Asp738Gly)
c.2141A>G (p.Asp714Gly)
c.2087A>G (p.Asp696Gly)
c.2006A>G (p.Asp669Gly)
c.1949A>G (p.Asp650Gly)
c.35A>G (p.Asp12Gly)
n.2228A>G
 gnomAD v4
16g.2114864T>GCA394389235PKD1c.2159A>C (p.Asp720Ala)
c.472+2625A>C
c.1090A>C (n.1090A>C)
c.2213A>C (p.Asp738Ala)
c.2141A>C (p.Asp714Ala)
c.2087A>C (p.Asp696Ala)
c.2006A>C (p.Asp669Ala)
c.1949A>C (p.Asp650Ala)
c.35A>C (p.Asp12Ala)
n.2228A>C
16g.2114865C>ACA394389237PKD1c.2158G>T (p.Asp720Tyr)
c.472+2624G>T
c.1089G>T (n.1089G>T)
c.2212G>T (p.Asp738Tyr)
c.2140G>T (p.Asp714Tyr)
c.2086G>T (p.Asp696Tyr)
c.2005G>T (p.Asp669Tyr)
c.1948G>T (p.Asp650Tyr)
c.34G>T (p.Asp12Tyr)
n.2227G>T
 gnomAD v4
16g.2114865C=CA2202049967PKD1c.2158G= (p.Asp720=)
c.472+2624G=
c.1089G= (n.1089G=)
c.2212G= (p.Asp738=)
c.2140G= (p.Asp714=)
c.2086G= (p.Asp696=)
c.2005G= (p.Asp669=)
c.1948G= (p.Asp650=)
c.34G= (p.Asp12=)
n.2227G=
16g.2114865C>GCA394389239PKD1c.2158G>C (p.Asp720His)
c.472+2624G>C
c.1089G>C (n.1089G>C)
c.2212G>C (p.Asp738His)
c.2140G>C (p.Asp714His)
c.2086G>C (p.Asp696His)
c.2005G>C (p.Asp669His)
c.1948G>C (p.Asp650His)
c.34G>C (p.Asp12His)
n.2227G>C
16g.2114865C>TCA394389236PKD1c.2158G>A (p.Asp720Asn)
c.472+2624G>A
c.1089G>A (n.1089G>A)
c.2212G>A (p.Asp738Asn)
c.2140G>A (p.Asp714Asn)
c.2086G>A (p.Asp696Asn)
c.2005G>A (p.Asp669Asn)
c.1948G>A (p.Asp650Asn)
c.34G>A (p.Asp12Asn)
n.2227G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114866G>ACA7833272PKD1c.2157C>T (p.His719=)
c.472+2623C>T
c.1088C>T (n.1088C>T)
c.2211C>T (p.His737=)
c.2139C>T (p.His713=)
c.2085C>T (p.His695=)
c.2004C>T (p.His668=)
c.1947C>T (p.His649=)
c.33C>T (p.His11=)
n.2226C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2114866G>CCA394389240PKD1c.2157C>G (p.His719Gln)
c.472+2623C>G
c.1088C>G (n.1088C>G)
c.2211C>G (p.His737Gln)
c.2139C>G (p.His713Gln)
c.2085C>G (p.His695Gln)
c.2004C>G (p.His668Gln)
c.1947C>G (p.His649Gln)
c.33C>G (p.His11Gln)
n.2226C>G
16g.2114866G=CA2202049968PKD1c.2157C= (p.His719=)
c.472+2623C=
c.1088C= (n.1088C=)
c.2211C= (p.His737=)
c.2139C= (p.His713=)
c.2085C= (p.His695=)
c.2004C= (p.His668=)
c.1947C= (p.His649=)
c.33C= (p.His11=)
n.2226C=
16g.2114866G>TCA394389242PKD1c.2157C>A (p.His719Gln)
c.472+2623C>A
c.1088C>A (n.1088C>A)
c.2211C>A (p.His737Gln)
c.2139C>A (p.His713Gln)
c.2085C>A (p.His695Gln)
c.2004C>A (p.His668Gln)
c.1947C>A (p.His649Gln)
c.33C>A (p.His11Gln)
n.2226C>A
 gnomAD v4
16g.2114867T>ACA394389243PKD1c.2156A>T (p.His719Leu)
c.472+2622A>T
c.1087A>T (n.1087A>T)
c.2210A>T (p.His737Leu)
c.2138A>T (p.His713Leu)
c.2084A>T (p.His695Leu)
c.2003A>T (p.His668Leu)
c.1946A>T (p.His649Leu)
c.32A>T (p.His11Leu)
n.2225A>T
 gnomAD v4
16g.2114867T>CCA394389245PKD1c.2156A>G (p.His719Arg)
c.472+2622A>G
c.1087A>G (n.1087A>G)
c.2210A>G (p.His737Arg)
c.2138A>G (p.His713Arg)
c.2084A>G (p.His695Arg)
c.2003A>G (p.His668Arg)
c.1946A>G (p.His649Arg)
c.32A>G (p.His11Arg)
n.2225A>G
 gnomAD v4
16g.2114867T>GCA394389246PKD1c.2156A>C (p.His719Pro)
c.472+2622A>C
c.1087A>C (n.1087A>C)
c.2210A>C (p.His737Pro)
c.2138A>C (p.His713Pro)
c.2084A>C (p.His695Pro)
c.2003A>C (p.His668Pro)
c.1946A>C (p.His649Pro)
c.32A>C (p.His11Pro)
n.2225A>C
16g.2114868G>ACA394389247PKD1c.2155C>T (p.His719Tyr)
c.472+2621C>T
c.1086C>T (n.1086C>T)
c.2209C>T (p.His737Tyr)
c.2137C>T (p.His713Tyr)
c.2083C>T (p.His695Tyr)
c.2002C>T (p.His668Tyr)
c.1945C>T (p.His649Tyr)
c.31C>T (p.His11Tyr)
n.2224C>T
 ClinVar gnomAD v4
16g.2114868G>CCA394389250PKD1c.2155C>G (p.His719Asp)
c.472+2621C>G
c.1086C>G (n.1086C>G)
c.2209C>G (p.His737Asp)
c.2137C>G (p.His713Asp)
c.2083C>G (p.His695Asp)
c.2002C>G (p.His668Asp)
c.1945C>G (p.His649Asp)
c.31C>G (p.His11Asp)
n.2224C>G
16g.2114868G>TCA394389249PKD1c.2155C>A (p.His719Asn)
c.472+2621C>A
c.1086C>A (n.1086C>A)
c.2209C>A (p.His737Asn)
c.2137C>A (p.His713Asn)
c.2083C>A (p.His695Asn)
c.2002C>A (p.His668Asn)
c.1945C>A (p.His649Asn)
c.31C>A (p.His11Asn)
n.2224C>A
 gnomAD v4
16g.2114869C>ACA394389252PKD1c.2154G>T (p.Gln718His)
c.472+2620G>T
c.1085G>T (n.1085G>T)
c.2208G>T (p.Gln736His)
c.2136G>T (p.Gln712His)
c.2082G>T (p.Gln694His)
c.2001G>T (p.Gln667His)
c.1944G>T (p.Gln648His)
c.30G>T (p.Gln10His)
n.2223G>T
 gnomAD v4
16g.2114869C=CA2202049969PKD1c.2154G= (p.Gln718=)
c.472+2620G=
c.1085G= (n.1085G=)
c.2208G= (p.Gln736=)
c.2136G= (p.Gln712=)
c.2082G= (p.Gln694=)
c.2001G= (p.Gln667=)
c.1944G= (p.Gln648=)
c.30G= (p.Gln10=)
n.2223G=
16g.2114869C>GCA394389253PKD1c.2154G>C (p.Gln718His)
c.472+2620G>C
c.1085G>C (n.1085G>C)
c.2208G>C (p.Gln736His)
c.2136G>C (p.Gln712His)
c.2082G>C (p.Gln694His)
c.2001G>C (p.Gln667His)
c.1944G>C (p.Gln648His)
c.30G>C (p.Gln10His)
n.2223G>C
 gnomAD v4
16g.2114869C>TCA492974462PKD1c.2154G>A (p.Gln718=)
c.472+2620G>A
c.1085G>A (n.1085G>A)
c.2208G>A (p.Gln736=)
c.2136G>A (p.Gln712=)
c.2082G>A (p.Gln694=)
c.2001G>A (p.Gln667=)
c.1944G>A (p.Gln648=)
c.30G>A (p.Gln10=)
n.2223G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114870T>ACA7833273PKD1c.2153A>T (p.Gln718Leu)
c.472+2619A>T
c.1084A>T (n.1084A>T)
c.2207A>T (p.Gln736Leu)
c.2135A>T (p.Gln712Leu)
c.2081A>T (p.Gln694Leu)
c.2000A>T (p.Gln667Leu)
c.1943A>T (p.Gln648Leu)
c.29A>T (p.Gln10Leu)
n.2222A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2114870T>CCA394389255PKD1c.2153A>G (p.Gln718Arg)
c.472+2619A>G
c.1084A>G (n.1084A>G)
c.2207A>G (p.Gln736Arg)
c.2135A>G (p.Gln712Arg)
c.2081A>G (p.Gln694Arg)
c.2000A>G (p.Gln667Arg)
c.1943A>G (p.Gln648Arg)
c.29A>G (p.Gln10Arg)
n.2222A>G
 ClinVar gnomAD v4
16g.2114870T>GCA394389256PKD1c.2153A>C (p.Gln718Pro)
c.472+2619A>C
c.1084A>C (n.1084A>C)
c.2207A>C (p.Gln736Pro)
c.2135A>C (p.Gln712Pro)
c.2081A>C (p.Gln694Pro)
c.2000A>C (p.Gln667Pro)
c.1943A>C (p.Gln648Pro)
c.29A>C (p.Gln10Pro)
n.2222A>C
16g.2114870T=CA2202049970PKD1c.2153A= (p.Gln718=)
c.472+2619A=
c.1084A= (n.1084A=)
c.2207A= (p.Gln736=)
c.2135A= (p.Gln712=)
c.2081A= (p.Gln694=)
c.2000A= (p.Gln667=)
c.1943A= (p.Gln648=)
c.29A= (p.Gln10=)
n.2222A=
16g.2114871G>ACA394389261PKD1c.2152C>T (p.Gln718Ter)
c.472+2618C>T
c.1083C>T (n.1083C>T)
c.2206C>T (p.Gln736Ter)
c.2134C>T (p.Gln712Ter)
c.2080C>T (p.Gln694Ter)
c.1999C>T (p.Gln667Ter)
c.1942C>T (p.Gln648Ter)
c.28C>T (p.Gln10Ter)
n.2221C>T
 ClinVar dbSNP gnomAD v4
16g.2114871G>CCA394389260PKD1c.2152C>G (p.Gln718Glu)
c.472+2618C>G
c.1083C>G (n.1083C>G)
c.2206C>G (p.Gln736Glu)
c.2134C>G (p.Gln712Glu)
c.2080C>G (p.Gln694Glu)
c.1999C>G (p.Gln667Glu)
c.1942C>G (p.Gln648Glu)
c.28C>G (p.Gln10Glu)
n.2221C>G
16g.2114871G=CA2202049971PKD1c.2152C= (p.Gln718=)
c.472+2618C=
c.1083C= (n.1083C=)
c.2206C= (p.Gln736=)
c.2134C= (p.Gln712=)
c.2080C= (p.Gln694=)
c.1999C= (p.Gln667=)
c.1942C= (p.Gln648=)
c.28C= (p.Gln10=)
n.2221C=
16g.2114871G>TCA394389258PKD1c.2152C>A (p.Gln718Lys)
c.472+2618C>A
c.1083C>A (n.1083C>A)
c.2206C>A (p.Gln736Lys)
c.2134C>A (p.Gln712Lys)
c.2080C>A (p.Gln694Lys)
c.1999C>A (p.Gln667Lys)
c.1942C>A (p.Gln648Lys)
c.28C>A (p.Gln10Lys)
n.2221C>A
 ClinVar dbSNP gnomAD v4
16g.2114872C>ACA394389262PKD1c.2151G>T (p.Leu717Phe)
c.472+2617G>T
c.1082G>T (n.1082G>T)
c.2205G>T (p.Leu735Phe)
c.2133G>T (p.Leu711Phe)
c.2079G>T (p.Leu693Phe)
c.1998G>T (p.Leu666Phe)
c.1941G>T (p.Leu647Phe)
c.27G>T (p.Leu9Phe)
n.2220G>T
 gnomAD v4
16g.2114872C=CA2202049972PKD1c.2151G= (p.Leu717=)
c.472+2617G=
c.1082G= (n.1082G=)
c.2205G= (p.Leu735=)
c.2133G= (p.Leu711=)
c.2079G= (p.Leu693=)
c.1998G= (p.Leu666=)
c.1941G= (p.Leu647=)
c.27G= (p.Leu9=)
n.2220G=
16g.2114872C>GCA394389263PKD1c.2151G>C (p.Leu717Phe)
c.472+2617G>C
c.1082G>C (n.1082G>C)
c.2205G>C (p.Leu735Phe)
c.2133G>C (p.Leu711Phe)
c.2079G>C (p.Leu693Phe)
c.1998G>C (p.Leu666Phe)
c.1941G>C (p.Leu647Phe)
c.27G>C (p.Leu9Phe)
n.2220G>C
16g.2114872C>TCA492974481PKD1c.2151G>A (p.Leu717=)
c.472+2617G>A
c.1082G>A (n.1082G>A)
c.2205G>A (p.Leu735=)
c.2133G>A (p.Leu711=)
c.2079G>A (p.Leu693=)
c.1998G>A (p.Leu666=)
c.1941G>A (p.Leu647=)
c.27G>A (p.Leu9=)
n.2220G>A
 dbSNP gnomAD v2 gnomAD v4
16g.2114873A>CCA394389264PKD1c.2150T>G (p.Leu717Trp)
c.472+2616T>G
c.1081T>G (n.1081T>G)
c.2204T>G (p.Leu735Trp)
c.2132T>G (p.Leu711Trp)
c.2078T>G (p.Leu693Trp)
c.1997T>G (p.Leu666Trp)
c.1940T>G (p.Leu647Trp)
c.26T>G (p.Leu9Trp)
n.2219T>G
16g.2114873A>GCA394389265PKD1c.2150T>C (p.Leu717Ser)
c.472+2616T>C
c.1081T>C (n.1081T>C)
c.2204T>C (p.Leu735Ser)
c.2132T>C (p.Leu711Ser)
c.2078T>C (p.Leu693Ser)
c.1997T>C (p.Leu666Ser)
c.1940T>C (p.Leu647Ser)
c.26T>C (p.Leu9Ser)
n.2219T>C
 gnomAD v4
16g.2114873A>TCA394389267PKD1c.2150T>A (p.Leu717Ter)
c.472+2616T>A
c.1081T>A (n.1081T>A)
c.2204T>A (p.Leu735Ter)
c.2132T>A (p.Leu711Ter)
c.2078T>A (p.Leu693Ter)
c.1997T>A (p.Leu666Ter)
c.1940T>A (p.Leu647Ter)
c.26T>A (p.Leu9Ter)
n.2219T>A
16g.2114874A=CA2202049973PKD1c.2149T= (p.Leu717=)
c.472+2615T=
c.1080T= (n.1080T=)
c.2203T= (p.Leu735=)
c.2131T= (p.Leu711=)
c.2077T= (p.Leu693=)
c.1996T= (p.Leu666=)
c.1939T= (p.Leu647=)
c.25T= (p.Leu9=)
n.2218T=
16g.2114874A>CCA394389268PKD1c.2149T>G (p.Leu717Val)
c.472+2615T>G
c.1080T>G (n.1080T>G)
c.2203T>G (p.Leu735Val)
c.2131T>G (p.Leu711Val)
c.2077T>G (p.Leu693Val)
c.1996T>G (p.Leu666Val)
c.1939T>G (p.Leu647Val)
c.25T>G (p.Leu9Val)
n.2218T>G
16g.2114874A>GCA492974490PKD1c.2149T>C (p.Leu717=)
c.472+2615T>C
c.1080T>C (n.1080T>C)
c.2203T>C (p.Leu735=)
c.2131T>C (p.Leu711=)
c.2077T>C (p.Leu693=)
c.1996T>C (p.Leu666=)
c.1939T>C (p.Leu647=)
c.25T>C (p.Leu9=)
n.2218T>C
 dbSNP gnomAD v4
16g.2114874A>TCA394389269PKD1c.2149T>A (p.Leu717Met)
c.472+2615T>A
c.1080T>A (n.1080T>A)
c.2203T>A (p.Leu735Met)
c.2131T>A (p.Leu711Met)
c.2077T>A (p.Leu693Met)
c.1996T>A (p.Leu666Met)
c.1939T>A (p.Leu647Met)
c.25T>A (p.Leu9Met)
n.2218T>A
 gnomAD v4
16g.2114875G>ACA492974495PKD1c.2148C>T (p.Gly716=)
c.472+2614C>T
c.1079C>T (n.1079C>T)
c.2202C>T (p.Gly734=)
c.2130C>T (p.Gly710=)
c.2076C>T (p.Gly692=)
c.1995C>T (p.Gly665=)
c.1938C>T (p.Gly646=)
c.24C>T (p.Gly8=)
n.2217C>T
 gnomAD v4
16g.2114875G>CCA492974498PKD1c.2148C>G (p.Gly716=)
c.472+2614C>G
c.1079C>G (n.1079C>G)
c.2202C>G (p.Gly734=)
c.2130C>G (p.Gly710=)
c.2076C>G (p.Gly692=)
c.1995C>G (p.Gly665=)
c.1938C>G (p.Gly646=)
c.24C>G (p.Gly8=)
n.2217C>G
 gnomAD v4
16g.2114875G>TCA492974500PKD1c.2148C>A (p.Gly716=)
c.472+2614C>A
c.1079C>A (n.1079C>A)
c.2202C>A (p.Gly734=)
c.2130C>A (p.Gly710=)
c.2076C>A (p.Gly692=)
c.1995C>A (p.Gly665=)
c.1938C>A (p.Gly646=)
c.24C>A (p.Gly8=)
n.2217C>A
 gnomAD v4
16g.2114876C>ACA394389271PKD1c.2147G>T (p.Gly716Val)
c.472+2613G>T
c.1078G>T (n.1078G>T)
c.2201G>T (p.Gly734Val)
c.2129G>T (p.Gly710Val)
c.2075G>T (p.Gly692Val)
c.1994G>T (p.Gly665Val)
c.1937G>T (p.Gly646Val)
c.23G>T (p.Gly8Val)
n.2216G>T
 gnomAD v4
16g.2114876C>GCA394389272PKD1c.2147G>C (p.Gly716Ala)
c.472+2613G>C
c.1078G>C (n.1078G>C)
c.2201G>C (p.Gly734Ala)
c.2129G>C (p.Gly710Ala)
c.2075G>C (p.Gly692Ala)
c.1994G>C (p.Gly665Ala)
c.1937G>C (p.Gly646Ala)
c.23G>C (p.Gly8Ala)
n.2216G>C
 gnomAD v4
16g.2114876C>TCA394389273PKD1c.2147G>A (p.Gly716Asp)
c.472+2613G>A
c.1078G>A (n.1078G>A)
c.2201G>A (p.Gly734Asp)
c.2129G>A (p.Gly710Asp)
c.2075G>A (p.Gly692Asp)
c.1994G>A (p.Gly665Asp)
c.1937G>A (p.Gly646Asp)
c.23G>A (p.Gly8Asp)
n.2216G>A
 gnomAD v4
16g.2114877C>ACA394389275PKD1c.2146G>T (p.Gly716Cys)
c.472+2612G>T
c.1077G>T (n.1077G>T)
c.2200G>T (p.Gly734Cys)
c.2128G>T (p.Gly710Cys)
c.2074G>T (p.Gly692Cys)
c.1993G>T (p.Gly665Cys)
c.1936G>T (p.Gly646Cys)
c.22G>T (p.Gly8Cys)
n.2215G>T
 gnomAD v4
16g.2114877C=CA2202049974PKD1c.2146G= (p.Gly716=)
c.472+2612G=
c.1077G= (n.1077G=)
c.2200G= (p.Gly734=)
c.2128G= (p.Gly710=)
c.2074G= (p.Gly692=)
c.1993G= (p.Gly665=)
c.1936G= (p.Gly646=)
c.22G= (p.Gly8=)
n.2215G=
16g.2114877C>GCA394389277PKD1c.2146G>C (p.Gly716Arg)
c.472+2612G>C
c.1077G>C (n.1077G>C)
c.2200G>C (p.Gly734Arg)
c.2128G>C (p.Gly710Arg)
c.2074G>C (p.Gly692Arg)
c.1993G>C (p.Gly665Arg)
c.1936G>C (p.Gly646Arg)
c.22G>C (p.Gly8Arg)
n.2215G>C
16g.2114877C>TCA394389278PKD1c.2146G>A (p.Gly716Ser)
c.472+2612G>A
c.1077G>A (n.1077G>A)
c.2200G>A (p.Gly734Ser)
c.2128G>A (p.Gly710Ser)
c.2074G>A (p.Gly692Ser)
c.1993G>A (p.Gly665Ser)
c.1936G>A (p.Gly646Ser)
c.22G>A (p.Gly8Ser)
n.2215G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114878_2114880delCA2695222572PKD1c.2144_2146del (p.Val715del)
c.472+2610_472+2612del
c.1075_1077del (n.1075_1077del)
c.2198_2200del (p.Val733del)
c.2126_2128del (p.Val709del)
c.2072_2074del (p.Val691del)
c.1991_1993del (p.Val664del)
c.1934_1936del (p.Val645del)
c.20_22del (p.Val7del)
n.2213_2215del
16g.2114877_2114878insTCA2631142030PKD1c.2145_2146insA (p.Gly716ArgfsTer?)
c.472+2611_472+2612insA
c.1076_1077insA (n.1076_1077insA)
c.2199_2200insA (p.Gly734ArgfsTer?)
c.2127_2128insA (p.Gly710ArgfsTer?)
c.2073_2074insA (p.Gly692ArgfsTer?)
c.1992_1993insA (p.Gly665ArgfsTer?)
c.1935_1936insA (p.Gly646ArgfsTer?)
c.21_22insA (p.Gly8ArgfsTer?)
n.2214_2215insA
 gnomAD v4
16g.2114878A>CCA492974512PKD1c.2145T>G (p.Val715=)
c.472+2611T>G
c.1076T>G (n.1076T>G)
c.2199T>G (p.Val733=)
c.2127T>G (p.Val709=)
c.2073T>G (p.Val691=)
c.1992T>G (p.Val664=)
c.1935T>G (p.Val645=)
c.21T>G (p.Val7=)
n.2214T>G
16g.2114878A>GCA492974513PKD1c.2145T>C (p.Val715=)
c.472+2611T>C
c.1076T>C (n.1076T>C)
c.2199T>C (p.Val733=)
c.2127T>C (p.Val709=)
c.2073T>C (p.Val691=)
c.1992T>C (p.Val664=)
c.1935T>C (p.Val645=)
c.21T>C (p.Val7=)
n.2214T>C
 gnomAD v4
16g.2114878A>TCA492974515PKD1c.2145T>A (p.Val715=)
c.472+2611T>A
c.1076T>A (n.1076T>A)
c.2199T>A (p.Val733=)
c.2127T>A (p.Val709=)
c.2073T>A (p.Val691=)
c.1992T>A (p.Val664=)
c.1935T>A (p.Val645=)
c.21T>A (p.Val7=)
n.2214T>A
16g.2114879A>CCA394389282PKD1c.2144T>G (p.Val715Gly)
c.472+2610T>G
c.1075T>G (n.1075T>G)
c.2198T>G (p.Val733Gly)
c.2126T>G (p.Val709Gly)
c.2072T>G (p.Val691Gly)
c.1991T>G (p.Val664Gly)
c.1934T>G (p.Val645Gly)
c.20T>G (p.Val7Gly)
n.2213T>G
16g.2114879A>GCA394389280PKD1c.2144T>C (p.Val715Ala)
c.472+2610T>C
c.1075T>C (n.1075T>C)
c.2198T>C (p.Val733Ala)
c.2126T>C (p.Val709Ala)
c.2072T>C (p.Val691Ala)
c.1991T>C (p.Val664Ala)
c.1934T>C (p.Val645Ala)
c.20T>C (p.Val7Ala)
n.2213T>C
 gnomAD v4
16g.2114879A>TCA394389279PKD1c.2144T>A (p.Val715Asp)
c.472+2610T>A
c.1075T>A (n.1075T>A)
c.2198T>A (p.Val733Asp)
c.2126T>A (p.Val709Asp)
c.2072T>A (p.Val691Asp)
c.1991T>A (p.Val664Asp)
c.1934T>A (p.Val645Asp)
c.20T>A (p.Val7Asp)
n.2213T>A
 gnomAD v4
16g.2114880C>ACA394389284PKD1c.2143G>T (p.Val715Phe)
c.472+2609G>T
c.1074G>T (n.1074G>T)
c.2197G>T (p.Val733Phe)
c.2125G>T (p.Val709Phe)
c.2071G>T (p.Val691Phe)
c.1990G>T (p.Val664Phe)
c.1933G>T (p.Val645Phe)
c.19G>T (p.Val7Phe)
n.2212G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2114880C=CA2202049975PKD1c.2143G= (p.Val715=)
c.472+2609G=
c.1074G= (n.1074G=)
c.2197G= (p.Val733=)
c.2125G= (p.Val709=)
c.2071G= (p.Val691=)
c.1990G= (p.Val664=)
c.1933G= (p.Val645=)
c.19G= (p.Val7=)
n.2212G=
16g.2114880C>GCA394389285PKD1c.2143G>C (p.Val715Leu)
c.472+2609G>C
c.1074G>C (n.1074G>C)
c.2197G>C (p.Val733Leu)
c.2125G>C (p.Val709Leu)
c.2071G>C (p.Val691Leu)
c.1990G>C (p.Val664Leu)
c.1933G>C (p.Val645Leu)
c.19G>C (p.Val7Leu)
n.2212G>C
16g.2114880C>TCA394389287PKD1c.2143G>A (p.Val715Ile)
c.472+2609G>A
c.1074G>A (n.1074G>A)
c.2197G>A (p.Val733Ile)
c.2125G>A (p.Val709Ile)
c.2071G>A (p.Val691Ile)
c.1990G>A (p.Val664Ile)
c.1933G>A (p.Val645Ile)
c.19G>A (p.Val7Ile)
n.2212G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114881G>ACA492974524PKD1c.2142C>T (p.Leu714=)
c.472+2608C>T
c.1073C>T (n.1073C>T)
c.2196C>T (p.Leu732=)
c.2124C>T (p.Leu708=)
c.2070C>T (p.Leu690=)
c.1989C>T (p.Leu663=)
c.1932C>T (p.Leu644=)
c.18C>T (p.Leu6=)
n.2211C>T
 dbSNP gnomAD v3 gnomAD v4
16g.2114881G>CCA492974527PKD1c.2142C>G (p.Leu714=)
c.472+2608C>G
c.1073C>G (n.1073C>G)
c.2196C>G (p.Leu732=)
c.2124C>G (p.Leu708=)
c.2070C>G (p.Leu690=)
c.1989C>G (p.Leu663=)
c.1932C>G (p.Leu644=)
c.18C>G (p.Leu6=)
n.2211C>G
16g.2114881G=CA2202049976PKD1c.2142C= (p.Leu714=)
c.472+2608C=
c.1073C= (n.1073C=)
c.2196C= (p.Leu732=)
c.2124C= (p.Leu708=)
c.2070C= (p.Leu690=)
c.1989C= (p.Leu663=)
c.1932C= (p.Leu644=)
c.18C= (p.Leu6=)
n.2211C=
16g.2114881G>TCA492974528PKD1c.2142C>A (p.Leu714=)
c.472+2608C>A
c.1073C>A (n.1073C>A)
c.2196C>A (p.Leu732=)
c.2124C>A (p.Leu708=)
c.2070C>A (p.Leu690=)
c.1989C>A (p.Leu663=)
c.1932C>A (p.Leu644=)
c.18C>A (p.Leu6=)
n.2211C>A
 gnomAD v4
16g.2114882A>CCA394389288PKD1c.2141T>G (p.Leu714Arg)
c.472+2607T>G
c.1072T>G (n.1072T>G)
c.2195T>G (p.Leu732Arg)
c.2123T>G (p.Leu708Arg)
c.2069T>G (p.Leu690Arg)
c.1988T>G (p.Leu663Arg)
c.1931T>G (p.Leu644Arg)
c.17T>G (p.Leu6Arg)
n.2210T>G
 gnomAD v4
16g.2114882A>GCA394389289PKD1c.2141T>C (p.Leu714Pro)
c.472+2607T>C
c.1072T>C (n.1072T>C)
c.2195T>C (p.Leu732Pro)
c.2123T>C (p.Leu708Pro)
c.2069T>C (p.Leu690Pro)
c.1988T>C (p.Leu663Pro)
c.1931T>C (p.Leu644Pro)
c.17T>C (p.Leu6Pro)
n.2210T>C
16g.2114882A>TCA394389291PKD1c.2141T>A (p.Leu714His)
c.472+2607T>A
c.1072T>A (n.1072T>A)
c.2195T>A (p.Leu732His)
c.2123T>A (p.Leu708His)
c.2069T>A (p.Leu690His)
c.1988T>A (p.Leu663His)
c.1931T>A (p.Leu644His)
c.17T>A (p.Leu6His)
n.2210T>A
 gnomAD v4
16g.2114883G>ACA394389293PKD1c.2140C>T (p.Leu714Phe)
c.472+2606C>T
c.1071C>T (n.1071C>T)
c.2194C>T (p.Leu732Phe)
c.2122C>T (p.Leu708Phe)
c.2068C>T (p.Leu690Phe)
c.1987C>T (p.Leu663Phe)
c.1930C>T (p.Leu644Phe)
c.16C>T (p.Leu6Phe)
n.2209C>T
 gnomAD v4
16g.2114883G>CCA394389294PKD1c.2140C>G (p.Leu714Val)
c.472+2606C>G
c.1071C>G (n.1071C>G)
c.2194C>G (p.Leu732Val)
c.2122C>G (p.Leu708Val)
c.2068C>G (p.Leu690Val)
c.1987C>G (p.Leu663Val)
c.1930C>G (p.Leu644Val)
c.16C>G (p.Leu6Val)
n.2209C>G
16g.2114883G>TCA394389296PKD1c.2140C>A (p.Leu714Ile)
c.472+2606C>A
c.1071C>A (n.1071C>A)
c.2194C>A (p.Leu732Ile)
c.2122C>A (p.Leu708Ile)
c.2068C>A (p.Leu690Ile)
c.1987C>A (p.Leu663Ile)
c.1930C>A (p.Leu644Ile)
c.16C>A (p.Leu6Ile)
n.2209C>A
 gnomAD v4
16g.2114884G>ACA492974540PKD1c.2139C>T (p.Asp713=)
c.472+2605C>T
c.1070C>T (n.1070C>T)
c.2193C>T (p.Asp731=)
c.2121C>T (p.Asp707=)
c.2067C>T (p.Asp689=)
c.1986C>T (p.Asp662=)
c.1929C>T (p.Asp643=)
c.15C>T (p.Asp5=)
n.2208C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114884G>CCA394389297PKD1c.2139C>G (p.Asp713Glu)
c.472+2605C>G
c.1070C>G (n.1070C>G)
c.2193C>G (p.Asp731Glu)
c.2121C>G (p.Asp707Glu)
c.2067C>G (p.Asp689Glu)
c.1986C>G (p.Asp662Glu)
c.1929C>G (p.Asp643Glu)
c.15C>G (p.Asp5Glu)
n.2208C>G
16g.2114884G=CA2202049977PKD1c.2139C= (p.Asp713=)
c.472+2605C=
c.1070C= (n.1070C=)
c.2193C= (p.Asp731=)
c.2121C= (p.Asp707=)
c.2067C= (p.Asp689=)
c.1986C= (p.Asp662=)
c.1929C= (p.Asp643=)
c.15C= (p.Asp5=)
n.2208C=
16g.2114884G>TCA394389298PKD1c.2139C>A (p.Asp713Glu)
c.472+2605C>A
c.1070C>A (n.1070C>A)
c.2193C>A (p.Asp731Glu)
c.2121C>A (p.Asp707Glu)
c.2067C>A (p.Asp689Glu)
c.1986C>A (p.Asp662Glu)
c.1929C>A (p.Asp643Glu)
c.15C>A (p.Asp5Glu)
n.2208C>A
 ClinVar gnomAD v4
16g.2114885T>ACA394389300PKD1c.2138A>T (p.Asp713Val)
c.472+2604A>T
c.1069A>T (n.1069A>T)
c.2192A>T (p.Asp731Val)
c.2120A>T (p.Asp707Val)
c.2066A>T (p.Asp689Val)
c.1985A>T (p.Asp662Val)
c.1928A>T (p.Asp643Val)
c.14A>T (p.Asp5Val)
n.2207A>T
16g.2114885T>CCA394389302PKD1c.2138A>G (p.Asp713Gly)
c.472+2604A>G
c.1069A>G (n.1069A>G)
c.2192A>G (p.Asp731Gly)
c.2120A>G (p.Asp707Gly)
c.2066A>G (p.Asp689Gly)
c.1985A>G (p.Asp662Gly)
c.1928A>G (p.Asp643Gly)
c.14A>G (p.Asp5Gly)
n.2207A>G
 gnomAD v4
16g.2114885T>GCA394389303PKD1c.2138A>C (p.Asp713Ala)
c.472+2604A>C
c.1069A>C (n.1069A>C)
c.2192A>C (p.Asp731Ala)
c.2120A>C (p.Asp707Ala)
c.2066A>C (p.Asp689Ala)
c.1985A>C (p.Asp662Ala)
c.1928A>C (p.Asp643Ala)
c.14A>C (p.Asp5Ala)
n.2207A>C
16g.2114886C>ACA394389307PKD1c.2137G>T (p.Asp713Tyr)
c.472+2603G>T
c.1068G>T (n.1068G>T)
c.2191G>T (p.Asp731Tyr)
c.2119G>T (p.Asp707Tyr)
c.2065G>T (p.Asp689Tyr)
c.1984G>T (p.Asp662Tyr)
c.1927G>T (p.Asp643Tyr)
c.13G>T (p.Asp5Tyr)
n.2206G>T
 gnomAD v4
16g.2114886C>GCA394389306PKD1c.2137G>C (p.Asp713His)
c.472+2603G>C
c.1068G>C (n.1068G>C)
c.2191G>C (p.Asp731His)
c.2119G>C (p.Asp707His)
c.2065G>C (p.Asp689His)
c.1984G>C (p.Asp662His)
c.1927G>C (p.Asp643His)
c.13G>C (p.Asp5His)
n.2206G>C
 gnomAD v4
16g.2114886C>TCA394389305PKD1c.2137G>A (p.Asp713Asn)
c.472+2603G>A
c.1068G>A (n.1068G>A)
c.2191G>A (p.Asp731Asn)
c.2119G>A (p.Asp707Asn)
c.2065G>A (p.Asp689Asn)
c.1984G>A (p.Asp662Asn)
c.1927G>A (p.Asp643Asn)
c.13G>A (p.Asp5Asn)
n.2206G>A
 gnomAD v4
16g.2114888_2114890delCA2631142031PKD1c.2135_2137del (p.Gly712del)
c.472+2601_472+2603del
c.1066_1068del (n.1066_1068del)
c.2189_2191del (p.Gly730del)
c.2117_2119del (p.Gly706del)
c.2063_2065del (p.Gly688del)
c.1982_1984del (p.Gly661del)
c.1925_1927del (p.Gly642del)
c.11_13del (p.Gly4del)
n.2204_2206del
 gnomAD v4
16g.2114887A=CA2202049978PKD1c.2136T= (p.Gly712=)
c.472+2602T=
c.1067T= (n.1067T=)
c.2190T= (p.Gly730=)
c.2118T= (p.Gly706=)
c.2064T= (p.Gly688=)
c.1983T= (p.Gly661=)
c.1926T= (p.Gly642=)
c.12T= (p.Gly4=)
n.2205T=
16g.2114887A>CCA492974543PKD1c.2136T>G (p.Gly712=)
c.472+2602T>G
c.1067T>G (n.1067T>G)
c.2190T>G (p.Gly730=)
c.2118T>G (p.Gly706=)
c.2064T>G (p.Gly688=)
c.1983T>G (p.Gly661=)
c.1926T>G (p.Gly642=)
c.12T>G (p.Gly4=)
n.2205T>G
16g.2114887A>GCA276782881PKD1c.2136T>C (p.Gly712=)
c.472+2602T>C
c.1067T>C (n.1067T>C)
c.2190T>C (p.Gly730=)
c.2118T>C (p.Gly706=)
c.2064T>C (p.Gly688=)
c.1983T>C (p.Gly661=)
c.1926T>C (p.Gly642=)
c.12T>C (p.Gly4=)
n.2205T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2114887A>TCA492974548PKD1c.2136T>A (p.Gly712=)
c.472+2602T>A
c.1067T>A (n.1067T>A)
c.2190T>A (p.Gly730=)
c.2118T>A (p.Gly706=)
c.2064T>A (p.Gly688=)
c.1983T>A (p.Gly661=)
c.1926T>A (p.Gly642=)
c.12T>A (p.Gly4=)
n.2205T>A
 gnomAD v4
16g.2114888C>ACA394389310PKD1c.2135G>T (p.Gly712Val)
c.472+2601G>T
c.1066G>T (n.1066G>T)
c.2189G>T (p.Gly730Val)
c.2117G>T (p.Gly706Val)
c.2063G>T (p.Gly688Val)
c.1982G>T (p.Gly661Val)
c.1925G>T (p.Gly642Val)
c.11G>T (p.Gly4Val)
n.2204G>T
 gnomAD v4
16g.2114888C=CA2202049979PKD1c.2135G= (p.Gly712=)
c.472+2601G=
c.1066G= (n.1066G=)
c.2189G= (p.Gly730=)
c.2117G= (p.Gly706=)
c.2063G= (p.Gly688=)
c.1982G= (p.Gly661=)
c.1925G= (p.Gly642=)
c.11G= (p.Gly4=)
n.2204G=
16g.2114888C>GCA394389311PKD1c.2135G>C (p.Gly712Ala)
c.472+2601G>C
c.1066G>C (n.1066G>C)
c.2189G>C (p.Gly730Ala)
c.2117G>C (p.Gly706Ala)
c.2063G>C (p.Gly688Ala)
c.1982G>C (p.Gly661Ala)
c.1925G>C (p.Gly642Ala)
c.11G>C (p.Gly4Ala)
n.2204G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114888C>TCA394389313PKD1c.2135G>A (p.Gly712Asp)
c.472+2601G>A
c.1066G>A (n.1066G>A)
c.2189G>A (p.Gly730Asp)
c.2117G>A (p.Gly706Asp)
c.2063G>A (p.Gly688Asp)
c.1982G>A (p.Gly661Asp)
c.1925G>A (p.Gly642Asp)
c.11G>A (p.Gly4Asp)
n.2204G>A
 gnomAD v4
16g.2114889delCA2575879056PKD1c.2135del (p.Gly712ValfsTer?)
c.472+2601del
c.1066del (n.1066del)
c.2189del (p.Gly730ValfsTer?)
c.2117del (p.Gly706ValfsTer?)
c.2063del (p.Gly688ValfsTer?)
c.1982del (p.Gly661ValfsTer?)
c.1925del (p.Gly642ValfsTer?)
c.11del (p.Gly4ValfsTer?)
n.2204del
 gnomAD v4
16g.2114889C>ACA394389314PKD1c.2134G>T (p.Gly712Cys)
c.472+2600G>T
c.1065G>T (n.1065G>T)
c.2188G>T (p.Gly730Cys)
c.2116G>T (p.Gly706Cys)
c.2062G>T (p.Gly688Cys)
c.1981G>T (p.Gly661Cys)
c.1924G>T (p.Gly642Cys)
c.10G>T (p.Gly4Cys)
n.2203G>T
 gnomAD v4
16g.2114889C>GCA394389315PKD1c.2134G>C (p.Gly712Arg)
c.472+2600G>C
c.1065G>C (n.1065G>C)
c.2188G>C (p.Gly730Arg)
c.2116G>C (p.Gly706Arg)
c.2062G>C (p.Gly688Arg)
c.1981G>C (p.Gly661Arg)
c.1924G>C (p.Gly642Arg)
c.10G>C (p.Gly4Arg)
n.2203G>C
 gnomAD v4
16g.2114889C>TCA394389316PKD1c.2134G>A (p.Gly712Ser)
c.472+2600G>A
c.1065G>A (n.1065G>A)
c.2188G>A (p.Gly730Ser)
c.2116G>A (p.Gly706Ser)
c.2062G>A (p.Gly688Ser)
c.1981G>A (p.Gly661Ser)
c.1924G>A (p.Gly642Ser)
c.10G>A (p.Gly4Ser)
n.2203G>A
 gnomAD v4
16g.2114890A>CCA492974556PKD1c.2133T>G (p.Pro711=)
c.472+2599T>G
c.1064T>G (n.1064T>G)
c.2187T>G (p.Pro729=)
c.2115T>G (p.Pro705=)
c.2061T>G (p.Pro687=)
c.1980T>G (p.Pro660=)
c.1923T>G (p.Pro641=)
c.9T>G (p.Pro3=)
n.2202T>G
16g.2114890A>GCA492974557PKD1c.2133T>C (p.Pro711=)
c.472+2599T>C
c.1064T>C (n.1064T>C)
c.2187T>C (p.Pro729=)
c.2115T>C (p.Pro705=)
c.2061T>C (p.Pro687=)
c.1980T>C (p.Pro660=)
c.1923T>C (p.Pro641=)
c.9T>C (p.Pro3=)
n.2202T>C
 gnomAD v4
16g.2114890A>TCA492974558PKD1c.2133T>A (p.Pro711=)
c.472+2599T>A
c.1064T>A (n.1064T>A)
c.2187T>A (p.Pro729=)
c.2115T>A (p.Pro705=)
c.2061T>A (p.Pro687=)
c.1980T>A (p.Pro660=)
c.1923T>A (p.Pro641=)
c.9T>A (p.Pro3=)
n.2202T>A
 gnomAD v4
16g.2114891G>ACA394389318PKD1c.2132C>T (p.Pro711Leu)
c.472+2598C>T
c.1063C>T (n.1063C>T)
c.2186C>T (p.Pro729Leu)
c.2114C>T (p.Pro705Leu)
c.2060C>T (p.Pro687Leu)
c.1979C>T (p.Pro660Leu)
c.1922C>T (p.Pro641Leu)
c.8C>T (p.Pro3Leu)
n.2201C>T
 gnomAD v4
16g.2114891G>CCA394389320PKD1c.2132C>G (p.Pro711Arg)
c.472+2598C>G
c.1063C>G (n.1063C>G)
c.2186C>G (p.Pro729Arg)
c.2114C>G (p.Pro705Arg)
c.2060C>G (p.Pro687Arg)
c.1979C>G (p.Pro660Arg)
c.1922C>G (p.Pro641Arg)
c.8C>G (p.Pro3Arg)
n.2201C>G
16g.2114891G>TCA394389321PKD1c.2132C>A (p.Pro711His)
c.472+2598C>A
c.1063C>A (n.1063C>A)
c.2186C>A (p.Pro729His)
c.2114C>A (p.Pro705His)
c.2060C>A (p.Pro687His)
c.1979C>A (p.Pro660His)
c.1922C>A (p.Pro641His)
c.8C>A (p.Pro3His)
n.2201C>A
 gnomAD v4
16g.2114893delCA2575879057PKD1c.2132del (p.Pro711LeufsTer?)
c.472+2598del
c.1063del (n.1063del)
c.2186del (p.Pro729LeufsTer?)
c.2114del (p.Pro705LeufsTer?)
c.2060del (p.Pro687LeufsTer?)
c.1979del (p.Pro660LeufsTer?)
c.1922del (p.Pro641LeufsTer?)
c.8del (p.Pro3LeufsTer?)
n.2201del
 gnomAD v4
16g.2114892G>ACA394389322PKD1c.2131C>T (p.Pro711Ser)
c.472+2597C>T
c.1062C>T (n.1062C>T)
c.2185C>T (p.Pro729Ser)
c.2113C>T (p.Pro705Ser)
c.2059C>T (p.Pro687Ser)
c.1978C>T (p.Pro660Ser)
c.1921C>T (p.Pro641Ser)
c.7C>T (p.Pro3Ser)
n.2200C>T
 gnomAD v4
16g.2114892G>CCA394389323PKD1c.2131C>G (p.Pro711Ala)
c.472+2597C>G
c.1062C>G (n.1062C>G)
c.2185C>G (p.Pro729Ala)
c.2113C>G (p.Pro705Ala)
c.2059C>G (p.Pro687Ala)
c.1978C>G (p.Pro660Ala)
c.1921C>G (p.Pro641Ala)
c.7C>G (p.Pro3Ala)
n.2200C>G
 gnomAD v4
16g.2114892G>TCA394389324PKD1c.2131C>A (p.Pro711Thr)
c.472+2597C>A
c.1062C>A (n.1062C>A)
c.2185C>A (p.Pro729Thr)
c.2113C>A (p.Pro705Thr)
c.2059C>A (p.Pro687Thr)
c.1978C>A (p.Pro660Thr)
c.1921C>A (p.Pro641Thr)
c.7C>A (p.Pro3Thr)
n.2200C>A
 gnomAD v4
16g.2114893G>ACA492974570PKD1c.2130C>T (p.Leu710=)
c.472+2596C>T
c.1061C>T (n.1061C>T)
c.2184C>T (p.Leu728=)
c.2112C>T (p.Leu704=)
c.2058C>T (p.Leu686=)
c.1977C>T (p.Leu659=)
c.1920C>T (p.Leu640=)
c.6C>T (p.Leu2=)
n.2199C>T
 gnomAD v4
16g.2114893G>CCA492974573PKD1c.2130C>G (p.Leu710=)
c.472+2596C>G
c.1061C>G (n.1061C>G)
c.2184C>G (p.Leu728=)
c.2112C>G (p.Leu704=)
c.2058C>G (p.Leu686=)
c.1977C>G (p.Leu659=)
c.1920C>G (p.Leu640=)
c.6C>G (p.Leu2=)
n.2199C>G
16g.2114893G=CA2202049980PKD1c.2130C= (p.Leu710=)
c.472+2596C=
c.1061C= (n.1061C=)
c.2184C= (p.Leu728=)
c.2112C= (p.Leu704=)
c.2058C= (p.Leu686=)
c.1977C= (p.Leu659=)
c.1920C= (p.Leu640=)
c.6C= (p.Leu2=)
n.2199C=
16g.2114893G>TCA492974575PKD1c.2130C>A (p.Leu710=)
c.472+2596C>A
c.1061C>A (n.1061C>A)
c.2184C>A (p.Leu728=)
c.2112C>A (p.Leu704=)
c.2058C>A (p.Leu686=)
c.1977C>A (p.Leu659=)
c.1920C>A (p.Leu640=)
c.6C>A (p.Leu2=)
n.2199C>A
 dbSNP gnomAD v2 gnomAD v4
16g.2114894A>CCA394389329PKD1c.2129T>G (p.Leu710Arg)
c.472+2595T>G
c.1060T>G (n.1060T>G)
c.2183T>G (p.Leu728Arg)
c.2111T>G (p.Leu704Arg)
c.2057T>G (p.Leu686Arg)
c.1976T>G (p.Leu659Arg)
c.1919T>G (p.Leu640Arg)
c.5T>G (p.Leu2Arg)
n.2198T>G
16g.2114894A>GCA394389326PKD1c.2129T>C (p.Leu710Pro)
c.472+2595T>C
c.1060T>C (n.1060T>C)
c.2183T>C (p.Leu728Pro)
c.2111T>C (p.Leu704Pro)
c.2057T>C (p.Leu686Pro)
c.1976T>C (p.Leu659Pro)
c.1919T>C (p.Leu640Pro)
c.5T>C (p.Leu2Pro)
n.2198T>C
 gnomAD v4
16g.2114894A>TCA394389327PKD1c.2129T>A (p.Leu710His)
c.472+2595T>A
c.1060T>A (n.1060T>A)
c.2183T>A (p.Leu728His)
c.2111T>A (p.Leu704His)
c.2057T>A (p.Leu686His)
c.1976T>A (p.Leu659His)
c.1919T>A (p.Leu640His)
c.5T>A (p.Leu2His)
n.2198T>A
16g.2114895G>ACA276782882PKD1c.2128C>T (p.Leu710Phe)
c.472+2594C>T
c.1059C>T (n.1059C>T)
c.2182C>T (p.Leu728Phe)
c.2110C>T (p.Leu704Phe)
c.2056C>T (p.Leu686Phe)
c.1975C>T (p.Leu659Phe)
c.1918C>T (p.Leu640Phe)
c.4C>T (p.Leu2Phe)
n.2197C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114895G>CCA394389331PKD1c.2128C>G (p.Leu710Val)
c.472+2594C>G
c.1059C>G (n.1059C>G)
c.2182C>G (p.Leu728Val)
c.2110C>G (p.Leu704Val)
c.2056C>G (p.Leu686Val)
c.1975C>G (p.Leu659Val)
c.1918C>G (p.Leu640Val)
c.4C>G (p.Leu2Val)
n.2197C>G
16g.2114895G=CA2202049981PKD1c.2128C= (p.Leu710=)
c.472+2594C=
c.1059C= (n.1059C=)
c.2182C= (p.Leu728=)
c.2110C= (p.Leu704=)
c.2056C= (p.Leu686=)
c.1975C= (p.Leu659=)
c.1918C= (p.Leu640=)
c.4C= (p.Leu2=)
n.2197C=
16g.2114895G>TCA394389332PKD1c.2128C>A (p.Leu710Ile)
c.472+2594C>A
c.1059C>A (n.1059C>A)
c.2182C>A (p.Leu728Ile)
c.2110C>A (p.Leu704Ile)
c.2056C>A (p.Leu686Ile)
c.1975C>A (p.Leu659Ile)
c.1918C>A (p.Leu640Ile)
c.4C>A (p.Leu2Ile)
n.2197C>A
 gnomAD v4
16g.2114896C>ACA394389334PKD1c.2127G>T (p.Met709Ile)
c.472+2593G>T
c.1058G>T (n.1058G>T)
c.2181G>T (p.Met727Ile)
c.2109G>T (p.Met703Ile)
c.2055G>T (p.Met685Ile)
c.1974G>T (p.Met658Ile)
c.1917G>T (p.Met639Ile)
c.3G>T (p.Met1Ile)
n.2196G>T
 gnomAD v4
16g.2114896C>GCA394389335PKD1c.2127G>C (p.Met709Ile)
c.472+2593G>C
c.1058G>C (n.1058G>C)
c.2181G>C (p.Met727Ile)
c.2109G>C (p.Met703Ile)
c.2055G>C (p.Met685Ile)
c.1974G>C (p.Met658Ile)
c.1917G>C (p.Met639Ile)
c.3G>C (p.Met1Ile)
n.2196G>C
16g.2114896C>TCA394389337PKD1c.2127G>A (p.Met709Ile)
c.472+2593G>A
c.1058G>A (n.1058G>A)
c.2181G>A (p.Met727Ile)
c.2109G>A (p.Met703Ile)
c.2055G>A (p.Met685Ile)
c.1974G>A (p.Met658Ile)
c.1917G>A (p.Met639Ile)
c.3G>A (p.Met1Ile)
n.2196G>A
 gnomAD v4
16g.2114897A=CA2202049982PKD1c.2126T= (p.Met709=)
c.472+2592T=
c.1057T= (n.1057T=)
c.2180T= (p.Met727=)
c.2108T= (p.Met703=)
c.2054T= (p.Met685=)
c.1973T= (p.Met658=)
c.1916T= (p.Met639=)
c.2T= (p.Met1=)
n.2195T=
16g.2114897A>CCA394389338PKD1c.2126T>G (p.Met709Arg)
c.472+2592T>G
c.1057T>G (n.1057T>G)
c.2180T>G (p.Met727Arg)
c.2108T>G (p.Met703Arg)
c.2054T>G (p.Met685Arg)
c.1973T>G (p.Met658Arg)
c.1916T>G (p.Met639Arg)
c.2T>G (p.Met1Arg)
n.2195T>G
16g.2114897A>GCA394389340PKD1c.2126T>C (p.Met709Thr)
c.472+2592T>C
c.1057T>C (n.1057T>C)
c.2180T>C (p.Met727Thr)
c.2108T>C (p.Met703Thr)
c.2054T>C (p.Met685Thr)
c.1973T>C (p.Met658Thr)
c.1916T>C (p.Met639Thr)
c.2T>C (p.Met1Thr)
n.2195T>C
 dbSNP gnomAD v3 gnomAD v4
16g.2114897A>TCA394389341PKD1c.2126T>A (p.Met709Lys)
c.472+2592T>A
c.1057T>A (n.1057T>A)
c.2180T>A (p.Met727Lys)
c.2108T>A (p.Met703Lys)
c.2054T>A (p.Met685Lys)
c.1973T>A (p.Met658Lys)
c.1916T>A (p.Met639Lys)
c.2T>A (p.Met1Lys)
n.2195T>A
16g.2114898T>ACA394389342PKD1c.2125A>T (p.Met709Leu)
c.472+2591A>T
c.1056A>T (n.1056A>T)
c.2179A>T (p.Met727Leu)
c.2107A>T (p.Met703Leu)
c.2053A>T (p.Met685Leu)
c.1972A>T (p.Met658Leu)
c.1915A>T (p.Met639Leu)
c.1A>T (p.Met1Leu)
n.2194A>T
16g.2114898T>CCA394389343PKD1c.2125A>G (p.Met709Val)
c.472+2591A>G
c.1056A>G (n.1056A>G)
c.2179A>G (p.Met727Val)
c.2107A>G (p.Met703Val)
c.2053A>G (p.Met685Val)
c.1972A>G (p.Met658Val)
c.1915A>G (p.Met639Val)
c.1A>G (p.Met1Val)
n.2194A>G
 dbSNP gnomAD v3 gnomAD v4
16g.2114898T>GCA394389344PKD1c.2125A>C (p.Met709Leu)
c.472+2591A>C
c.1056A>C (n.1056A>C)
c.2179A>C (p.Met727Leu)
c.2107A>C (p.Met703Leu)
c.2053A>C (p.Met685Leu)
c.1972A>C (p.Met658Leu)
c.1915A>C (p.Met639Leu)
c.1A>C (p.Met1Leu)
n.2194A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114898T=CA2202049984PKD1c.2125A= (p.Met709=)
c.472+2591A=
c.1056A= (n.1056A=)
c.2179A= (p.Met727=)
c.2107A= (p.Met703=)
c.2053A= (p.Met685=)
c.1972A= (p.Met658=)
c.1915A= (p.Met639=)
c.1A= (p.Met1=)
n.2194A=
16g.2114898_2114901delinsTGAGCA2202049983PKD1c.2122_2125delinsCTCA (p.Leu708=)
c.472+2588_472+2591delinsCTCA
c.1053_1056delinsCTCA (n.1053_1056delinsCTCA)
c.2176_2179delinsCTCA (p.Leu726=)
c.2104_2107delinsCTCA (p.Leu702=)
c.2050_2053delinsCTCA (p.Leu684=)
c.1969_1972delinsCTCA (p.Leu657=)
c.1912_1915delinsCTCA (p.Leu638=)
c.-3_1delinsCTCA
n.2191_2194delinsCTCA
16g.2114899G>ACA492974615PKD1c.2124C>T (p.Leu708=)
c.472+2590C>T
c.1055C>T (n.1055C>T)
c.2178C>T (p.Leu726=)
c.2106C>T (p.Leu702=)
c.2052C>T (p.Leu684=)
c.1971C>T (p.Leu657=)
c.1914C>T (p.Leu638=)
c.-1C>T (n.-1C>T)
n.2193C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114899G>CCA492974616PKD1c.2124C>G (p.Leu708=)
c.472+2590C>G
c.1055C>G (n.1055C>G)
c.2178C>G (p.Leu726=)
c.2106C>G (p.Leu702=)
c.2052C>G (p.Leu684=)
c.1971C>G (p.Leu657=)
c.1914C>G (p.Leu638=)
c.-1C>G (n.-1C>G)
n.2193C>G
 gnomAD v4
16g.2114899G=CA2202049985PKD1c.2124C= (p.Leu708=)
c.472+2590C=
c.1055C= (n.1055C=)
c.2178C= (p.Leu726=)
c.2106C= (p.Leu702=)
c.2052C= (p.Leu684=)
c.1971C= (p.Leu657=)
c.1914C= (p.Leu638=)
c.-1C= (n.-1C=)
n.2193C=
16g.2114899G>TCA492974619PKD1c.2124C>A (p.Leu708=)
c.472+2590C>A
c.1055C>A (n.1055C>A)
c.2178C>A (p.Leu726=)
c.2106C>A (p.Leu702=)
c.2052C>A (p.Leu684=)
c.1971C>A (p.Leu657=)
c.1914C>A (p.Leu638=)
c.-1C>A (n.-1C>A)
n.2193C>A
 gnomAD v4
16g.2114901_2114903delCA276782884PKD1c.2122_2124del (p.Leu708del)
c.472+2588_472+2590del
c.1053_1055del (n.1053_1055del)
c.2176_2178del (p.Leu726del)
c.2104_2106del (p.Leu702del)
c.2050_2052del (p.Leu684del)
c.1969_1971del (p.Leu657del)
c.1912_1914del (p.Leu638del)
c.-3_-1del (n.-3_-1del)
n.2191_2193del
 dbSNP gnomAD v4
16g.2114900A>CCA394389345PKD1c.2123T>G (p.Leu708Arg)
c.472+2589T>G
c.1054T>G (n.1054T>G)
c.2177T>G (p.Leu726Arg)
c.2105T>G (p.Leu702Arg)
c.2051T>G (p.Leu684Arg)
c.1970T>G (p.Leu657Arg)
c.1913T>G (p.Leu638Arg)
c.-2T>G (n.-2T>G)
n.2192T>G
16g.2114900A>GCA394389347PKD1c.2123T>C (p.Leu708Pro)
c.472+2589T>C
c.1054T>C (n.1054T>C)
c.2177T>C (p.Leu726Pro)
c.2105T>C (p.Leu702Pro)
c.2051T>C (p.Leu684Pro)
c.1970T>C (p.Leu657Pro)
c.1913T>C (p.Leu638Pro)
c.-2T>C (n.-2T>C)
n.2192T>C
 gnomAD v4
16g.2114900A>TCA394389346PKD1c.2123T>A (p.Leu708His)
c.472+2589T>A
c.1054T>A (n.1054T>A)
c.2177T>A (p.Leu726His)
c.2105T>A (p.Leu702His)
c.2051T>A (p.Leu684His)
c.1970T>A (p.Leu657His)
c.1913T>A (p.Leu638His)
c.-2T>A (n.-2T>A)
n.2192T>A
 gnomAD v4
16g.2114901G>ACA394389348PKD1c.2122C>T (p.Leu708Phe)
c.472+2588C>T
c.1053C>T (n.1053C>T)
c.2176C>T (p.Leu726Phe)
c.2104C>T (p.Leu702Phe)
c.2050C>T (p.Leu684Phe)
c.1969C>T (p.Leu657Phe)
c.1912C>T (p.Leu638Phe)
c.-3C>T (n.-3C>T)
n.2191C>T
 gnomAD v4
16g.2114901G>CCA394389350PKD1c.2122C>G (p.Leu708Val)
c.472+2588C>G
c.1053C>G (n.1053C>G)
c.2176C>G (p.Leu726Val)
c.2104C>G (p.Leu702Val)
c.2050C>G (p.Leu684Val)
c.1969C>G (p.Leu657Val)
c.1912C>G (p.Leu638Val)
c.-3C>G (n.-3C>G)
n.2191C>G
16g.2114901G=CA2202049986PKD1c.2122C= (p.Leu708=)
c.472+2588C=
c.1053C= (n.1053C=)
c.2176C= (p.Leu726=)
c.2104C= (p.Leu702=)
c.2050C= (p.Leu684=)
c.1969C= (p.Leu657=)
c.1912C= (p.Leu638=)
c.-3C= (n.-3C=)
n.2191C=
16g.2114901G>TCA394389349PKD1c.2122C>A (p.Leu708Ile)
c.472+2588C>A
c.1053C>A (n.1053C>A)
c.2176C>A (p.Leu726Ile)
c.2104C>A (p.Leu702Ile)
c.2050C>A (p.Leu684Ile)
c.1969C>A (p.Leu657Ile)
c.1912C>A (p.Leu638Ile)
c.-3C>A (n.-3C>A)
n.2191C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114902G>ACA492974631PKD1c.2121C>T (p.Val707=)
c.472+2587C>T
c.1052C>T (n.1052C>T)
c.2175C>T (p.Val725=)
c.2103C>T (p.Val701=)
c.2049C>T (p.Val683=)
c.1968C>T (p.Val656=)
c.1911C>T (p.Val637=)
c.-4C>T (n.-4C>T)
n.2190C>T
 dbSNP gnomAD v4
16g.2114902G>CCA492974635PKD1c.2121C>G (p.Val707=)
c.472+2587C>G
c.1052C>G (n.1052C>G)
c.2175C>G (p.Val725=)
c.2103C>G (p.Val701=)
c.2049C>G (p.Val683=)
c.1968C>G (p.Val656=)
c.1911C>G (p.Val637=)
c.-4C>G (n.-4C>G)
n.2190C>G
16g.2114902G=CA2202049987PKD1c.2121C= (p.Val707=)
c.472+2587C=
c.1052C= (n.1052C=)
c.2175C= (p.Val725=)
c.2103C= (p.Val701=)
c.2049C= (p.Val683=)
c.1968C= (p.Val656=)
c.1911C= (p.Val637=)
c.-4C= (n.-4C=)
n.2190C=
16g.2114902G>TCA492974633PKD1c.2121C>A (p.Val707=)
c.472+2587C>A
c.1052C>A (n.1052C>A)
c.2175C>A (p.Val725=)
c.2103C>A (p.Val701=)
c.2049C>A (p.Val683=)
c.1968C>A (p.Val656=)
c.1911C>A (p.Val637=)
c.-4C>A (n.-4C>A)
n.2190C>A
 gnomAD v4
16g.2114903A>CCA394389351PKD1c.2120T>G (p.Val707Gly)
c.472+2586T>G
c.1051T>G (n.1051T>G)
c.2174T>G (p.Val725Gly)
c.2102T>G (p.Val701Gly)
c.2048T>G (p.Val683Gly)
c.1967T>G (p.Val656Gly)
c.1910T>G (p.Val637Gly)
c.-5T>G (n.-5T>G)
n.2189T>G
16g.2114903A>GCA394389353PKD1c.2120T>C (p.Val707Ala)
c.472+2586T>C
c.1051T>C (n.1051T>C)
c.2174T>C (p.Val725Ala)
c.2102T>C (p.Val701Ala)
c.2048T>C (p.Val683Ala)
c.1967T>C (p.Val656Ala)
c.1910T>C (p.Val637Ala)
c.-5T>C (n.-5T>C)
n.2189T>C
 gnomAD v4
16g.2114903A>TCA394389352PKD1c.2120T>A (p.Val707Asp)
c.472+2586T>A
c.1051T>A (n.1051T>A)
c.2174T>A (p.Val725Asp)
c.2102T>A (p.Val701Asp)
c.2048T>A (p.Val683Asp)
c.1967T>A (p.Val656Asp)
c.1910T>A (p.Val637Asp)
c.-5T>A (n.-5T>A)
n.2189T>A
 gnomAD v4
16g.2114904C>ACA394389354PKD1c.2119G>T (p.Val707Phe)
c.472+2585G>T
c.1050G>T (n.1050G>T)
c.2173G>T (p.Val725Phe)
c.2101G>T (p.Val701Phe)
c.2047G>T (p.Val683Phe)
c.1966G>T (p.Val656Phe)
c.1909G>T (p.Val637Phe)
c.-6G>T (n.-6G>T)
n.2188G>T
 gnomAD v4
16g.2114904C=CA2202049988PKD1c.2119G= (p.Val707=)
c.472+2585G=
c.1050G= (n.1050G=)
c.2173G= (p.Val725=)
c.2101G= (p.Val701=)
c.2047G= (p.Val683=)
c.1966G= (p.Val656=)
c.1909G= (p.Val637=)
c.-6G= (n.-6G=)
n.2188G=
16g.2114904C>GCA394389355PKD1c.2119G>C (p.Val707Leu)
c.472+2585G>C
c.1050G>C (n.1050G>C)
c.2173G>C (p.Val725Leu)
c.2101G>C (p.Val701Leu)
c.2047G>C (p.Val683Leu)
c.1966G>C (p.Val656Leu)
c.1909G>C (p.Val637Leu)
c.-6G>C (n.-6G>C)
n.2188G>C
 gnomAD v4
16g.2114904C>TCA394389356PKD1c.2119G>A (p.Val707Ile)
c.472+2585G>A
c.1050G>A (n.1050G>A)
c.2173G>A (p.Val725Ile)
c.2101G>A (p.Val701Ile)
c.2047G>A (p.Val683Ile)
c.1966G>A (p.Val656Ile)
c.1909G>A (p.Val637Ile)
c.-6G>A (n.-6G>A)
n.2188G>A
 dbSNP gnomAD v4
16g.2114905A>CCA394389357PKD1c.2118T>G (p.Asp706Glu)
c.472+2584T>G
c.1049T>G (n.1049T>G)
c.2172T>G (p.Asp724Glu)
c.2100T>G (p.Asp700Glu)
c.2046T>G (p.Asp682Glu)
c.1965T>G (p.Asp655Glu)
c.1908T>G (p.Asp636Glu)
c.-7T>G (n.-7T>G)
n.2187T>G
16g.2114905A>GCA492974643PKD1c.2118T>C (p.Asp706=)
c.472+2584T>C
c.1049T>C (n.1049T>C)
c.2172T>C (p.Asp724=)
c.2100T>C (p.Asp700=)
c.2046T>C (p.Asp682=)
c.1965T>C (p.Asp655=)
c.1908T>C (p.Asp636=)
c.-7T>C (n.-7T>C)
n.2187T>C
16g.2114905A>TCA394389358PKD1c.2118T>A (p.Asp706Glu)
c.472+2584T>A
c.1049T>A (n.1049T>A)
c.2172T>A (p.Asp724Glu)
c.2100T>A (p.Asp700Glu)
c.2046T>A (p.Asp682Glu)
c.1965T>A (p.Asp655Glu)
c.1908T>A (p.Asp636Glu)
c.-7T>A (n.-7T>A)
n.2187T>A
16g.2114906T>ACA394389359PKD1c.2117A>T (p.Asp706Val)
c.472+2583A>T
c.1048A>T (n.1048A>T)
c.2171A>T (p.Asp724Val)
c.2099A>T (p.Asp700Val)
c.2045A>T (p.Asp682Val)
c.1964A>T (p.Asp655Val)
c.1907A>T (p.Asp636Val)
c.-8A>T (n.-8A>T)
n.2186A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2114906T>CCA394389360PKD1c.2117A>G (p.Asp706Gly)
c.472+2583A>G
c.1048A>G (n.1048A>G)
c.2171A>G (p.Asp724Gly)
c.2099A>G (p.Asp700Gly)
c.2045A>G (p.Asp682Gly)
c.1964A>G (p.Asp655Gly)
c.1907A>G (p.Asp636Gly)
c.-8A>G (n.-8A>G)
n.2186A>G
 dbSNP gnomAD v3 gnomAD v4
16g.2114906T>GCA394389361PKD1c.2117A>C (p.Asp706Ala)
c.472+2583A>C
c.1048A>C (n.1048A>C)
c.2171A>C (p.Asp724Ala)
c.2099A>C (p.Asp700Ala)
c.2045A>C (p.Asp682Ala)
c.1964A>C (p.Asp655Ala)
c.1907A>C (p.Asp636Ala)
c.-8A>C (n.-8A>C)
n.2186A>C
16g.2114906T=CA2202049989PKD1c.2117A= (p.Asp706=)
c.472+2583A=
c.1048A= (n.1048A=)
c.2171A= (p.Asp724=)
c.2099A= (p.Asp700=)
c.2045A= (p.Asp682=)
c.1964A= (p.Asp655=)
c.1907A= (p.Asp636=)
c.-8A= (n.-8A=)
n.2186A=
16g.2114907C>ACA394389362PKD1c.2116G>T (p.Asp706Tyr)
c.472+2582G>T
c.1047G>T (n.1047G>T)
c.2170G>T (p.Asp724Tyr)
c.2098G>T (p.Asp700Tyr)
c.2044G>T (p.Asp682Tyr)
c.1963G>T (p.Asp655Tyr)
c.1906G>T (p.Asp636Tyr)
c.-9G>T (n.-9G>T)
n.2185G>T
 gnomAD v4
16g.2114907C>GCA394389363PKD1c.2116G>C (p.Asp706His)
c.472+2582G>C
c.1047G>C (n.1047G>C)
c.2170G>C (p.Asp724His)
c.2098G>C (p.Asp700His)
c.2044G>C (p.Asp682His)
c.1963G>C (p.Asp655His)
c.1906G>C (p.Asp636His)
c.-9G>C (n.-9G>C)
n.2185G>C
16g.2114907C>TCA394389364PKD1c.2116G>A (p.Asp706Asn)
c.472+2582G>A
c.1047G>A (n.1047G>A)
c.2170G>A (p.Asp724Asn)
c.2098G>A (p.Asp700Asn)
c.2044G>A (p.Asp682Asn)
c.1963G>A (p.Asp655Asn)
c.1906G>A (p.Asp636Asn)
c.-9G>A (n.-9G>A)
n.2185G>A

Number of alleles fetched