Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2090314_2090322dupCA2825002345PKD1c.12407_12415dup (p.Arg4138_Leu4139insArgLeuArg)
c.12404_12412dup (p.Arg4137_Leu4138insArgLeuArg)
n.435_443dup
c.9362_9370dup (p.Arg3123_Leu3124insArgLeuArg)
c.12485_12493dup (p.Arg4164_Leu4165insArgLeuArg)
c.12482_12490dup (p.Arg4163_Leu4164insArgLeuArg)
c.12467_12475dup (p.Arg4158_Leu4159insArgLeuArg)
c.12461_12469dup (p.Arg4156_Leu4157insArgLeuArg)
c.12458_12466dup (p.Arg4155_Leu4156insArgLeuArg)
c.12431_12439dup (p.Arg4146_Leu4147insArgLeuArg)
c.12413_12421dup (p.Arg4140_Leu4141insArgLeuArg)
c.12359_12367dup (p.Arg4122_Leu4123insArgLeuArg)
c.12278_12286dup (p.Arg4095_Leu4096insArgLeuArg)
c.12221_12229dup (p.Arg4076_Leu4077insArgLeuArg)
c.10307_10315dup (p.Arg3438_Leu3439insArgLeuArg)
c.9485_9493dup (p.Arg3164_Leu3165insArgLeuArg)
n.12325_12333dup
c.12527_12535dup (p.Arg4178_Leu4179insArgLeuArg)
c.12455_12463dup (p.Arg4154_Leu4155insArgLeuArg)
c.12317_12325dup (p.Arg4108_Leu4109insArgLeuArg)
c.10403_10411dup (p.Arg3470_Leu3471insArgLeuArg)
 ClinVar
16g.2090319A=CA2202041363PKD1c.12410T= (p.Leu4137=)
c.12407T= (p.Leu4136=)
n.438T=
c.9365T= (p.Leu3122=)
c.12488T= (p.Leu4163=)
c.12485T= (p.Leu4162=)
c.12470T= (p.Leu4157=)
c.12464T= (p.Leu4155=)
c.12461T= (p.Leu4154=)
c.12434T= (p.Leu4145=)
c.12416T= (p.Leu4139=)
c.12362T= (p.Leu4121=)
c.12281T= (p.Leu4094=)
c.12224T= (p.Leu4075=)
c.10310T= (p.Leu3437=)
c.9488T= (p.Leu3163=)
n.12328T=
c.12530T= (p.Leu4177=)
c.12458T= (p.Leu4153=)
c.12320T= (p.Leu4107=)
c.10406T= (p.Leu3469=)
16g.2090319A>CCA394324675PKD1c.12410T>G (p.Leu4137Arg)
c.12407T>G (p.Leu4136Arg)
n.438T>G
c.9365T>G (p.Leu3122Arg)
c.12488T>G (p.Leu4163Arg)
c.12485T>G (p.Leu4162Arg)
c.12470T>G (p.Leu4157Arg)
c.12464T>G (p.Leu4155Arg)
c.12461T>G (p.Leu4154Arg)
c.12434T>G (p.Leu4145Arg)
c.12416T>G (p.Leu4139Arg)
c.12362T>G (p.Leu4121Arg)
c.12281T>G (p.Leu4094Arg)
c.12224T>G (p.Leu4075Arg)
c.10310T>G (p.Leu3437Arg)
c.9488T>G (p.Leu3163Arg)
n.12328T>G
c.12530T>G (p.Leu4177Arg)
c.12458T>G (p.Leu4153Arg)
c.12320T>G (p.Leu4107Arg)
c.10406T>G (p.Leu3469Arg)
16g.2090319A>GCA394324679PKD1c.12410T>C (p.Leu4137Pro)
c.12407T>C (p.Leu4136Pro)
n.438T>C
c.9365T>C (p.Leu3122Pro)
c.12488T>C (p.Leu4163Pro)
c.12485T>C (p.Leu4162Pro)
c.12470T>C (p.Leu4157Pro)
c.12464T>C (p.Leu4155Pro)
c.12461T>C (p.Leu4154Pro)
c.12434T>C (p.Leu4145Pro)
c.12416T>C (p.Leu4139Pro)
c.12362T>C (p.Leu4121Pro)
c.12281T>C (p.Leu4094Pro)
c.12224T>C (p.Leu4075Pro)
c.10310T>C (p.Leu3437Pro)
c.9488T>C (p.Leu3163Pro)
n.12328T>C
c.12530T>C (p.Leu4177Pro)
c.12458T>C (p.Leu4153Pro)
c.12320T>C (p.Leu4107Pro)
c.10406T>C (p.Leu3469Pro)
 dbSNP gnomAD v3 gnomAD v4
16g.2090319A>TCA394324682PKD1c.12410T>A (p.Leu4137Gln)
c.12407T>A (p.Leu4136Gln)
n.438T>A
c.9365T>A (p.Leu3122Gln)
c.12488T>A (p.Leu4163Gln)
c.12485T>A (p.Leu4162Gln)
c.12470T>A (p.Leu4157Gln)
c.12464T>A (p.Leu4155Gln)
c.12461T>A (p.Leu4154Gln)
c.12434T>A (p.Leu4145Gln)
c.12416T>A (p.Leu4139Gln)
c.12362T>A (p.Leu4121Gln)
c.12281T>A (p.Leu4094Gln)
c.12224T>A (p.Leu4075Gln)
c.10310T>A (p.Leu3437Gln)
c.9488T>A (p.Leu3163Gln)
n.12328T>A
c.12530T>A (p.Leu4177Gln)
c.12458T>A (p.Leu4153Gln)
c.12320T>A (p.Leu4107Gln)
c.10406T>A (p.Leu3469Gln)
 dbSNP
16g.2090320delCA2695221494PKD1c.12409del (p.Leu4137CysfsTer?)
c.12406del (p.Leu4136CysfsTer?)
n.437del
c.9364del (p.Leu3122CysfsTer?)
c.12487del (p.Leu4163CysfsTer?)
c.12484del (p.Leu4162CysfsTer?)
c.12469del (p.Leu4157CysfsTer?)
c.12463del (p.Leu4155CysfsTer?)
c.12460del (p.Leu4154CysfsTer?)
c.12433del (p.Leu4145CysfsTer?)
c.12415del (p.Leu4139CysfsTer?)
c.12361del (p.Leu4121CysfsTer?)
c.12280del (p.Leu4094CysfsTer?)
c.12223del (p.Leu4075CysfsTer?)
c.10309del (p.Leu3437CysfsTer?)
c.9487del (p.Leu3163CysfsTer?)
n.12327del
c.12529del (p.Leu4177CysfsTer?)
c.12457del (p.Leu4153CysfsTer?)
c.12319del (p.Leu4107CysfsTer?)
c.10405del (p.Leu3469CysfsTer?)
16g.2090320G>ACA7828652PKD1c.12409C>T (p.Leu4137=)
c.12406C>T (p.Leu4136=)
n.437C>T
c.9364C>T (p.Leu3122=)
c.12487C>T (p.Leu4163=)
c.12484C>T (p.Leu4162=)
c.12469C>T (p.Leu4157=)
c.12463C>T (p.Leu4155=)
c.12460C>T (p.Leu4154=)
c.12433C>T (p.Leu4145=)
c.12415C>T (p.Leu4139=)
c.12361C>T (p.Leu4121=)
c.12280C>T (p.Leu4094=)
c.12223C>T (p.Leu4075=)
c.10309C>T (p.Leu3437=)
c.9487C>T (p.Leu3163=)
n.12327C>T
c.12529C>T (p.Leu4177=)
c.12457C>T (p.Leu4153=)
c.12319C>T (p.Leu4107=)
c.10405C>T (p.Leu3469=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090320G>CCA394324686PKD1c.12409C>G (p.Leu4137Val)
c.12406C>G (p.Leu4136Val)
n.437C>G
c.9364C>G (p.Leu3122Val)
c.12487C>G (p.Leu4163Val)
c.12484C>G (p.Leu4162Val)
c.12469C>G (p.Leu4157Val)
c.12463C>G (p.Leu4155Val)
c.12460C>G (p.Leu4154Val)
c.12433C>G (p.Leu4145Val)
c.12415C>G (p.Leu4139Val)
c.12361C>G (p.Leu4121Val)
c.12280C>G (p.Leu4094Val)
c.12223C>G (p.Leu4075Val)
c.10309C>G (p.Leu3437Val)
c.9487C>G (p.Leu3163Val)
n.12327C>G
c.12529C>G (p.Leu4177Val)
c.12457C>G (p.Leu4153Val)
c.12319C>G (p.Leu4107Val)
c.10405C>G (p.Leu3469Val)
16g.2090320G=CA2202041371PKD1c.12409C= (p.Leu4137=)
c.12406C= (p.Leu4136=)
n.437C=
c.9364C= (p.Leu3122=)
c.12487C= (p.Leu4163=)
c.12484C= (p.Leu4162=)
c.12469C= (p.Leu4157=)
c.12463C= (p.Leu4155=)
c.12460C= (p.Leu4154=)
c.12433C= (p.Leu4145=)
c.12415C= (p.Leu4139=)
c.12361C= (p.Leu4121=)
c.12280C= (p.Leu4094=)
c.12223C= (p.Leu4075=)
c.10309C= (p.Leu3437=)
c.9487C= (p.Leu3163=)
n.12327C=
c.12529C= (p.Leu4177=)
c.12457C= (p.Leu4153=)
c.12319C= (p.Leu4107=)
c.10405C= (p.Leu3469=)
16g.2090320G>TCA394324689PKD1c.12409C>A (p.Leu4137Met)
c.12406C>A (p.Leu4136Met)
n.437C>A
c.9364C>A (p.Leu3122Met)
c.12487C>A (p.Leu4163Met)
c.12484C>A (p.Leu4162Met)
c.12469C>A (p.Leu4157Met)
c.12463C>A (p.Leu4155Met)
c.12460C>A (p.Leu4154Met)
c.12433C>A (p.Leu4145Met)
c.12415C>A (p.Leu4139Met)
c.12361C>A (p.Leu4121Met)
c.12280C>A (p.Leu4094Met)
c.12223C>A (p.Leu4075Met)
c.10309C>A (p.Leu3437Met)
c.9487C>A (p.Leu3163Met)
n.12327C>A
c.12529C>A (p.Leu4177Met)
c.12457C>A (p.Leu4153Met)
c.12319C>A (p.Leu4107Met)
c.10405C>A (p.Leu3469Met)
16g.2090321C>ACA394324694PKD1c.12408G>T (p.Arg4136Ser)
c.12405G>T (p.Arg4135Ser)
n.436G>T
c.9363G>T (p.Arg3121Ser)
c.12486G>T (p.Arg4162Ser)
c.12483G>T (p.Arg4161Ser)
c.12468G>T (p.Arg4156Ser)
c.12462G>T (p.Arg4154Ser)
c.12459G>T (p.Arg4153Ser)
c.12432G>T (p.Arg4144Ser)
c.12414G>T (p.Arg4138Ser)
c.12360G>T (p.Arg4120Ser)
c.12279G>T (p.Arg4093Ser)
c.12222G>T (p.Arg4074Ser)
c.10308G>T (p.Arg3436Ser)
c.9486G>T (p.Arg3162Ser)
n.12326G>T
c.12528G>T (p.Arg4176Ser)
c.12456G>T (p.Arg4152Ser)
c.12318G>T (p.Arg4106Ser)
c.10404G>T (p.Arg3468Ser)
16g.2090321C>GCA394324693PKD1c.12408G>C (p.Arg4136Ser)
c.12405G>C (p.Arg4135Ser)
n.436G>C
c.9363G>C (p.Arg3121Ser)
c.12486G>C (p.Arg4162Ser)
c.12483G>C (p.Arg4161Ser)
c.12468G>C (p.Arg4156Ser)
c.12462G>C (p.Arg4154Ser)
c.12459G>C (p.Arg4153Ser)
c.12432G>C (p.Arg4144Ser)
c.12414G>C (p.Arg4138Ser)
c.12360G>C (p.Arg4120Ser)
c.12279G>C (p.Arg4093Ser)
c.12222G>C (p.Arg4074Ser)
c.10308G>C (p.Arg3436Ser)
c.9486G>C (p.Arg3162Ser)
n.12326G>C
c.12528G>C (p.Arg4176Ser)
c.12456G>C (p.Arg4152Ser)
c.12318G>C (p.Arg4106Ser)
c.10404G>C (p.Arg3468Ser)
16g.2090321C>TCA493044194PKD1c.12408G>A (p.Arg4136=)
c.12405G>A (p.Arg4135=)
n.436G>A
c.9363G>A (p.Arg3121=)
c.12486G>A (p.Arg4162=)
c.12483G>A (p.Arg4161=)
c.12468G>A (p.Arg4156=)
c.12462G>A (p.Arg4154=)
c.12459G>A (p.Arg4153=)
c.12432G>A (p.Arg4144=)
c.12414G>A (p.Arg4138=)
c.12360G>A (p.Arg4120=)
c.12279G>A (p.Arg4093=)
c.12222G>A (p.Arg4074=)
c.10308G>A (p.Arg3436=)
c.9486G>A (p.Arg3162=)
n.12326G>A
c.12528G>A (p.Arg4176=)
c.12456G>A (p.Arg4152=)
c.12318G>A (p.Arg4106=)
c.10404G>A (p.Arg3468=)
 gnomAD v4
16g.2090322C>ACA7828653PKD1c.12407G>T (p.Arg4136Met)
c.12404G>T (p.Arg4135Met)
n.435G>T
c.9362G>T (p.Arg3121Met)
c.12485G>T (p.Arg4162Met)
c.12482G>T (p.Arg4161Met)
c.12467G>T (p.Arg4156Met)
c.12461G>T (p.Arg4154Met)
c.12458G>T (p.Arg4153Met)
c.12431G>T (p.Arg4144Met)
c.12413G>T (p.Arg4138Met)
c.12359G>T (p.Arg4120Met)
c.12278G>T (p.Arg4093Met)
c.12221G>T (p.Arg4074Met)
c.10307G>T (p.Arg3436Met)
c.9485G>T (p.Arg3162Met)
n.12325G>T
c.12527G>T (p.Arg4176Met)
c.12455G>T (p.Arg4152Met)
c.12317G>T (p.Arg4106Met)
c.10403G>T (p.Arg3468Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2090322C=CA2202041376PKD1c.12407G= (p.Arg4136=)
c.12404G= (p.Arg4135=)
n.435G=
c.9362G= (p.Arg3121=)
c.12485G= (p.Arg4162=)
c.12482G= (p.Arg4161=)
c.12467G= (p.Arg4156=)
c.12461G= (p.Arg4154=)
c.12458G= (p.Arg4153=)
c.12431G= (p.Arg4144=)
c.12413G= (p.Arg4138=)
c.12359G= (p.Arg4120=)
c.12278G= (p.Arg4093=)
c.12221G= (p.Arg4074=)
c.10307G= (p.Arg3436=)
c.9485G= (p.Arg3162=)
n.12325G=
c.12527G= (p.Arg4176=)
c.12455G= (p.Arg4152=)
c.12317G= (p.Arg4106=)
c.10403G= (p.Arg3468=)
16g.2090322C>GCA394324698PKD1c.12407G>C (p.Arg4136Thr)
c.12404G>C (p.Arg4135Thr)
n.435G>C
c.9362G>C (p.Arg3121Thr)
c.12485G>C (p.Arg4162Thr)
c.12482G>C (p.Arg4161Thr)
c.12467G>C (p.Arg4156Thr)
c.12461G>C (p.Arg4154Thr)
c.12458G>C (p.Arg4153Thr)
c.12431G>C (p.Arg4144Thr)
c.12413G>C (p.Arg4138Thr)
c.12359G>C (p.Arg4120Thr)
c.12278G>C (p.Arg4093Thr)
c.12221G>C (p.Arg4074Thr)
c.10307G>C (p.Arg3436Thr)
c.9485G>C (p.Arg3162Thr)
n.12325G>C
c.12527G>C (p.Arg4176Thr)
c.12455G>C (p.Arg4152Thr)
c.12317G>C (p.Arg4106Thr)
c.10403G>C (p.Arg3468Thr)
 ClinVar
16g.2090322C>TCA394324700PKD1c.12407G>A (p.Arg4136Lys)
c.12404G>A (p.Arg4135Lys)
n.435G>A
c.9362G>A (p.Arg3121Lys)
c.12485G>A (p.Arg4162Lys)
c.12482G>A (p.Arg4161Lys)
c.12467G>A (p.Arg4156Lys)
c.12461G>A (p.Arg4154Lys)
c.12458G>A (p.Arg4153Lys)
c.12431G>A (p.Arg4144Lys)
c.12413G>A (p.Arg4138Lys)
c.12359G>A (p.Arg4120Lys)
c.12278G>A (p.Arg4093Lys)
c.12221G>A (p.Arg4074Lys)
c.10307G>A (p.Arg3436Lys)
c.9485G>A (p.Arg3162Lys)
n.12325G>A
c.12527G>A (p.Arg4176Lys)
c.12455G>A (p.Arg4152Lys)
c.12317G>A (p.Arg4106Lys)
c.10403G>A (p.Arg3468Lys)
 ClinVar dbSNP gnomAD v4
16g.2090322_2090330delCA2695221495PKD1c.12399_12407del (p.Phe4133_Arg4136delinsLeu)
c.12396_12404del (p.Phe4132_Arg4135delinsLeu)
n.427_435del
c.9354_9362del (p.Phe3118_Arg3121delinsLeu)
c.12477_12485del (p.Phe4159_Arg4162delinsLeu)
c.12474_12482del (p.Phe4158_Arg4161delinsLeu)
c.12459_12467del (p.Phe4153_Arg4156delinsLeu)
c.12453_12461del (p.Phe4151_Arg4154delinsLeu)
c.12450_12458del (p.Phe4150_Arg4153delinsLeu)
c.12423_12431del (p.Phe4141_Arg4144delinsLeu)
c.12405_12413del (p.Phe4135_Arg4138delinsLeu)
c.12351_12359del (p.Phe4117_Arg4120delinsLeu)
c.12270_12278del (p.Phe4090_Arg4093delinsLeu)
c.12213_12221del (p.Phe4071_Arg4074delinsLeu)
c.10299_10307del (p.Phe3433_Arg3436delinsLeu)
c.9477_9485del (p.Phe3159_Arg3162delinsLeu)
n.12317_12325del
c.12519_12527del (p.Phe4173_Arg4176delinsLeu)
c.12447_12455del (p.Phe4149_Arg4152delinsLeu)
c.12309_12317del (p.Phe4103_Arg4106delinsLeu)
c.10395_10403del (p.Phe3465_Arg3468delinsLeu)
16g.2090323T>ACA394324706PKD1c.12406A>T (p.Arg4136Trp)
c.12403A>T (p.Arg4135Trp)
n.434A>T
c.9361A>T (p.Arg3121Trp)
c.12484A>T (p.Arg4162Trp)
c.12481A>T (p.Arg4161Trp)
c.12466A>T (p.Arg4156Trp)
c.12460A>T (p.Arg4154Trp)
c.12457A>T (p.Arg4153Trp)
c.12430A>T (p.Arg4144Trp)
c.12412A>T (p.Arg4138Trp)
c.12358A>T (p.Arg4120Trp)
c.12277A>T (p.Arg4093Trp)
c.12220A>T (p.Arg4074Trp)
c.10306A>T (p.Arg3436Trp)
c.9484A>T (p.Arg3162Trp)
n.12324A>T
c.12526A>T (p.Arg4176Trp)
c.12454A>T (p.Arg4152Trp)
c.12316A>T (p.Arg4106Trp)
c.10402A>T (p.Arg3468Trp)
 ClinVar
16g.2090323T>CCA394324708PKD1c.12406A>G (p.Arg4136Gly)
c.12403A>G (p.Arg4135Gly)
n.434A>G
c.9361A>G (p.Arg3121Gly)
c.12484A>G (p.Arg4162Gly)
c.12481A>G (p.Arg4161Gly)
c.12466A>G (p.Arg4156Gly)
c.12460A>G (p.Arg4154Gly)
c.12457A>G (p.Arg4153Gly)
c.12430A>G (p.Arg4144Gly)
c.12412A>G (p.Arg4138Gly)
c.12358A>G (p.Arg4120Gly)
c.12277A>G (p.Arg4093Gly)
c.12220A>G (p.Arg4074Gly)
c.10306A>G (p.Arg3436Gly)
c.9484A>G (p.Arg3162Gly)
n.12324A>G
c.12526A>G (p.Arg4176Gly)
c.12454A>G (p.Arg4152Gly)
c.12316A>G (p.Arg4106Gly)
c.10402A>G (p.Arg3468Gly)
16g.2090323T>GCA493044198PKD1c.12406A>C (p.Arg4136=)
c.12403A>C (p.Arg4135=)
n.434A>C
c.9361A>C (p.Arg3121=)
c.12484A>C (p.Arg4162=)
c.12481A>C (p.Arg4161=)
c.12466A>C (p.Arg4156=)
c.12460A>C (p.Arg4154=)
c.12457A>C (p.Arg4153=)
c.12430A>C (p.Arg4144=)
c.12412A>C (p.Arg4138=)
c.12358A>C (p.Arg4120=)
c.12277A>C (p.Arg4093=)
c.12220A>C (p.Arg4074=)
c.10306A>C (p.Arg3436=)
c.9484A>C (p.Arg3162=)
n.12324A>C
c.12526A>C (p.Arg4176=)
c.12454A>C (p.Arg4152=)
c.12316A>C (p.Arg4106=)
c.10402A>C (p.Arg3468=)
16g.2090323_2090331delCA2695221496PKD1c.12398_12406del (p.Phe4133_Arg4136delinsTrp)
c.12395_12403del (p.Phe4132_Arg4135delinsTrp)
n.426_434del
c.9353_9361del (p.Phe3118_Arg3121delinsTrp)
c.12476_12484del (p.Phe4159_Arg4162delinsTrp)
c.12473_12481del (p.Phe4158_Arg4161delinsTrp)
c.12458_12466del (p.Phe4153_Arg4156delinsTrp)
c.12452_12460del (p.Phe4151_Arg4154delinsTrp)
c.12449_12457del (p.Phe4150_Arg4153delinsTrp)
c.12422_12430del (p.Phe4141_Arg4144delinsTrp)
c.12404_12412del (p.Phe4135_Arg4138delinsTrp)
c.12350_12358del (p.Phe4117_Arg4120delinsTrp)
c.12269_12277del (p.Phe4090_Arg4093delinsTrp)
c.12212_12220del (p.Phe4071_Arg4074delinsTrp)
c.10298_10306del (p.Phe3433_Arg3436delinsTrp)
c.9476_9484del (p.Phe3159_Arg3162delinsTrp)
n.12316_12324del
c.12518_12526del (p.Phe4173_Arg4176delinsTrp)
c.12446_12454del (p.Phe4149_Arg4152delinsTrp)
c.12308_12316del (p.Phe4103_Arg4106delinsTrp)
c.10394_10402del (p.Phe3465_Arg3468delinsTrp)
16g.2090324G>ACA7828654PKD1c.12405C>T (p.Arg4135=)
c.12402C>T (p.Arg4134=)
n.433C>T
c.9360C>T (p.Arg3120=)
c.12483C>T (p.Arg4161=)
c.12480C>T (p.Arg4160=)
c.12465C>T (p.Arg4155=)
c.12459C>T (p.Arg4153=)
c.12456C>T (p.Arg4152=)
c.12429C>T (p.Arg4143=)
c.12411C>T (p.Arg4137=)
c.12357C>T (p.Arg4119=)
c.12276C>T (p.Arg4092=)
c.12219C>T (p.Arg4073=)
c.10305C>T (p.Arg3435=)
c.9483C>T (p.Arg3161=)
n.12323C>T
c.12525C>T (p.Arg4175=)
c.12453C>T (p.Arg4151=)
c.12315C>T (p.Arg4105=)
c.10401C>T (p.Arg3467=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090324G>CCA493044199PKD1c.12405C>G (p.Arg4135=)
c.12402C>G (p.Arg4134=)
n.433C>G
c.9360C>G (p.Arg3120=)
c.12483C>G (p.Arg4161=)
c.12480C>G (p.Arg4160=)
c.12465C>G (p.Arg4155=)
c.12459C>G (p.Arg4153=)
c.12456C>G (p.Arg4152=)
c.12429C>G (p.Arg4143=)
c.12411C>G (p.Arg4137=)
c.12357C>G (p.Arg4119=)
c.12276C>G (p.Arg4092=)
c.12219C>G (p.Arg4073=)
c.10305C>G (p.Arg3435=)
c.9483C>G (p.Arg3161=)
n.12323C>G
c.12525C>G (p.Arg4175=)
c.12453C>G (p.Arg4151=)
c.12315C>G (p.Arg4105=)
c.10401C>G (p.Arg3467=)
 dbSNP
16g.2090324G=CA2202041380PKD1c.12405C= (p.Arg4135=)
c.12402C= (p.Arg4134=)
n.433C=
c.9360C= (p.Arg3120=)
c.12483C= (p.Arg4161=)
c.12480C= (p.Arg4160=)
c.12465C= (p.Arg4155=)
c.12459C= (p.Arg4153=)
c.12456C= (p.Arg4152=)
c.12429C= (p.Arg4143=)
c.12411C= (p.Arg4137=)
c.12357C= (p.Arg4119=)
c.12276C= (p.Arg4092=)
c.12219C= (p.Arg4073=)
c.10305C= (p.Arg3435=)
c.9483C= (p.Arg3161=)
n.12323C=
c.12525C= (p.Arg4175=)
c.12453C= (p.Arg4151=)
c.12315C= (p.Arg4105=)
c.10401C= (p.Arg3467=)
16g.2090324G>TCA493044200PKD1c.12405C>A (p.Arg4135=)
c.12402C>A (p.Arg4134=)
n.433C>A
c.9360C>A (p.Arg3120=)
c.12483C>A (p.Arg4161=)
c.12480C>A (p.Arg4160=)
c.12465C>A (p.Arg4155=)
c.12459C>A (p.Arg4153=)
c.12456C>A (p.Arg4152=)
c.12429C>A (p.Arg4143=)
c.12411C>A (p.Arg4137=)
c.12357C>A (p.Arg4119=)
c.12276C>A (p.Arg4092=)
c.12219C>A (p.Arg4073=)
c.10305C>A (p.Arg3435=)
c.9483C>A (p.Arg3161=)
n.12323C>A
c.12525C>A (p.Arg4175=)
c.12453C>A (p.Arg4151=)
c.12315C>A (p.Arg4105=)
c.10401C>A (p.Arg3467=)
16g.2090325C>ACA7828656PKD1c.12404G>T (p.Arg4135Leu)
c.12401G>T (p.Arg4134Leu)
n.432G>T
c.9359G>T (p.Arg3120Leu)
c.12482G>T (p.Arg4161Leu)
c.12479G>T (p.Arg4160Leu)
c.12464G>T (p.Arg4155Leu)
c.12458G>T (p.Arg4153Leu)
c.12455G>T (p.Arg4152Leu)
c.12428G>T (p.Arg4143Leu)
c.12410G>T (p.Arg4137Leu)
c.12356G>T (p.Arg4119Leu)
c.12275G>T (p.Arg4092Leu)
c.12218G>T (p.Arg4073Leu)
c.10304G>T (p.Arg3435Leu)
c.9482G>T (p.Arg3161Leu)
n.12322G>T
c.12524G>T (p.Arg4175Leu)
c.12452G>T (p.Arg4151Leu)
c.12314G>T (p.Arg4105Leu)
c.10400G>T (p.Arg3467Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090325C=CA2202041383PKD1c.12404G= (p.Arg4135=)
c.12401G= (p.Arg4134=)
n.432G=
c.9359G= (p.Arg3120=)
c.12482G= (p.Arg4161=)
c.12479G= (p.Arg4160=)
c.12464G= (p.Arg4155=)
c.12458G= (p.Arg4153=)
c.12455G= (p.Arg4152=)
c.12428G= (p.Arg4143=)
c.12410G= (p.Arg4137=)
c.12356G= (p.Arg4119=)
c.12275G= (p.Arg4092=)
c.12218G= (p.Arg4073=)
c.10304G= (p.Arg3435=)
c.9482G= (p.Arg3161=)
n.12322G=
c.12524G= (p.Arg4175=)
c.12452G= (p.Arg4151=)
c.12314G= (p.Arg4105=)
c.10400G= (p.Arg3467=)
16g.2090325C>GCA394324716PKD1c.12404G>C (p.Arg4135Pro)
c.12401G>C (p.Arg4134Pro)
n.432G>C
c.9359G>C (p.Arg3120Pro)
c.12482G>C (p.Arg4161Pro)
c.12479G>C (p.Arg4160Pro)
c.12464G>C (p.Arg4155Pro)
c.12458G>C (p.Arg4153Pro)
c.12455G>C (p.Arg4152Pro)
c.12428G>C (p.Arg4143Pro)
c.12410G>C (p.Arg4137Pro)
c.12356G>C (p.Arg4119Pro)
c.12275G>C (p.Arg4092Pro)
c.12218G>C (p.Arg4073Pro)
c.10304G>C (p.Arg3435Pro)
c.9482G>C (p.Arg3161Pro)
n.12322G>C
c.12524G>C (p.Arg4175Pro)
c.12452G>C (p.Arg4151Pro)
c.12314G>C (p.Arg4105Pro)
c.10400G>C (p.Arg3467Pro)
16g.2090325C>TCA7828655PKD1c.12404G>A (p.Arg4135His)
c.12401G>A (p.Arg4134His)
n.432G>A
c.9359G>A (p.Arg3120His)
c.12482G>A (p.Arg4161His)
c.12479G>A (p.Arg4160His)
c.12464G>A (p.Arg4155His)
c.12458G>A (p.Arg4153His)
c.12455G>A (p.Arg4152His)
c.12428G>A (p.Arg4143His)
c.12410G>A (p.Arg4137His)
c.12356G>A (p.Arg4119His)
c.12275G>A (p.Arg4092His)
c.12218G>A (p.Arg4073His)
c.10304G>A (p.Arg3435His)
c.9482G>A (p.Arg3161His)
n.12322G>A
c.12524G>A (p.Arg4175His)
c.12452G>A (p.Arg4151His)
c.12314G>A (p.Arg4105His)
c.10400G>A (p.Arg3467His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2090326G>ACA7828657PKD1c.12403C>T (p.Arg4135Cys)
c.12400C>T (p.Arg4134Cys)
n.431C>T
c.9358C>T (p.Arg3120Cys)
c.12481C>T (p.Arg4161Cys)
c.12478C>T (p.Arg4160Cys)
c.12463C>T (p.Arg4155Cys)
c.12457C>T (p.Arg4153Cys)
c.12454C>T (p.Arg4152Cys)
c.12427C>T (p.Arg4143Cys)
c.12409C>T (p.Arg4137Cys)
c.12355C>T (p.Arg4119Cys)
c.12274C>T (p.Arg4092Cys)
c.12217C>T (p.Arg4073Cys)
c.10303C>T (p.Arg3435Cys)
c.9481C>T (p.Arg3161Cys)
n.12321C>T
c.12523C>T (p.Arg4175Cys)
c.12451C>T (p.Arg4151Cys)
c.12313C>T (p.Arg4105Cys)
c.10399C>T (p.Arg3467Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090326G>CCA394324724PKD1c.12403C>G (p.Arg4135Gly)
c.12400C>G (p.Arg4134Gly)
n.431C>G
c.9358C>G (p.Arg3120Gly)
c.12481C>G (p.Arg4161Gly)
c.12478C>G (p.Arg4160Gly)
c.12463C>G (p.Arg4155Gly)
c.12457C>G (p.Arg4153Gly)
c.12454C>G (p.Arg4152Gly)
c.12427C>G (p.Arg4143Gly)
c.12409C>G (p.Arg4137Gly)
c.12355C>G (p.Arg4119Gly)
c.12274C>G (p.Arg4092Gly)
c.12217C>G (p.Arg4073Gly)
c.10303C>G (p.Arg3435Gly)
c.9481C>G (p.Arg3161Gly)
n.12321C>G
c.12523C>G (p.Arg4175Gly)
c.12451C>G (p.Arg4151Gly)
c.12313C>G (p.Arg4105Gly)
c.10399C>G (p.Arg3467Gly)
16g.2090326G=CA2202041390PKD1c.12403C= (p.Arg4135=)
c.12400C= (p.Arg4134=)
n.431C=
c.9358C= (p.Arg3120=)
c.12481C= (p.Arg4161=)
c.12478C= (p.Arg4160=)
c.12463C= (p.Arg4155=)
c.12457C= (p.Arg4153=)
c.12454C= (p.Arg4152=)
c.12427C= (p.Arg4143=)
c.12409C= (p.Arg4137=)
c.12355C= (p.Arg4119=)
c.12274C= (p.Arg4092=)
c.12217C= (p.Arg4073=)
c.10303C= (p.Arg3435=)
c.9481C= (p.Arg3161=)
n.12321C=
c.12523C= (p.Arg4175=)
c.12451C= (p.Arg4151=)
c.12313C= (p.Arg4105=)
c.10399C= (p.Arg3467=)
16g.2090326G>TCA394324727PKD1c.12403C>A (p.Arg4135Ser)
c.12400C>A (p.Arg4134Ser)
n.431C>A
c.9358C>A (p.Arg3120Ser)
c.12481C>A (p.Arg4161Ser)
c.12478C>A (p.Arg4160Ser)
c.12463C>A (p.Arg4155Ser)
c.12457C>A (p.Arg4153Ser)
c.12454C>A (p.Arg4152Ser)
c.12427C>A (p.Arg4143Ser)
c.12409C>A (p.Arg4137Ser)
c.12355C>A (p.Arg4119Ser)
c.12274C>A (p.Arg4092Ser)
c.12217C>A (p.Arg4073Ser)
c.10303C>A (p.Arg3435Ser)
c.9481C>A (p.Arg3161Ser)
n.12321C>A
c.12523C>A (p.Arg4175Ser)
c.12451C>A (p.Arg4151Ser)
c.12313C>A (p.Arg4105Ser)
c.10399C>A (p.Arg3467Ser)
16g.2090326dupCA1139664262PKD1c.12403dup (p.Arg4135ProfsTer22)
c.12400dup (p.Arg4134ProfsTer22)
n.431dup
c.9358dup (p.Arg3120ProfsTer22)
c.12481dup (p.Arg4161ProfsTer22)
c.12478dup (p.Arg4160ProfsTer22)
c.12463dup (p.Arg4155ProfsTer22)
c.12457dup (p.Arg4153ProfsTer22)
c.12454dup (p.Arg4152ProfsTer22)
c.12427dup (p.Arg4143ProfsTer22)
c.12409dup (p.Arg4137ProfsTer22)
c.12355dup (p.Arg4119ProfsTer22)
c.12274dup (p.Arg4092ProfsTer22)
c.12217dup (p.Arg4073ProfsTer22)
c.10303dup (p.Arg3435ProfsTer22)
c.9481dup (p.Arg3161ProfsTer22)
n.12321dup
c.12523dup (p.Arg4175ProfsTer22)
c.12451dup (p.Arg4151ProfsTer22)
c.12313dup (p.Arg4105ProfsTer22)
c.10399dup (p.Arg3467ProfsTer22)
 ClinVar dbSNP
16g.2090327C>ACA493044204PKD1c.12402G>T (p.Leu4134=)
c.12399G>T (p.Leu4133=)
n.430G>T
c.9357G>T (p.Leu3119=)
c.12480G>T (p.Leu4160=)
c.12477G>T (p.Leu4159=)
c.12462G>T (p.Leu4154=)
c.12456G>T (p.Leu4152=)
c.12453G>T (p.Leu4151=)
c.12426G>T (p.Leu4142=)
c.12408G>T (p.Leu4136=)
c.12354G>T (p.Leu4118=)
c.12273G>T (p.Leu4091=)
c.12216G>T (p.Leu4072=)
c.10302G>T (p.Leu3434=)
c.9480G>T (p.Leu3160=)
n.12320G>T
c.12522G>T (p.Leu4174=)
c.12450G>T (p.Leu4150=)
c.12312G>T (p.Leu4104=)
c.10398G>T (p.Leu3466=)
16g.2090327C=CA2202041391PKD1c.12402G= (p.Leu4134=)
c.12399G= (p.Leu4133=)
n.430G=
c.9357G= (p.Leu3119=)
c.12480G= (p.Leu4160=)
c.12477G= (p.Leu4159=)
c.12462G= (p.Leu4154=)
c.12456G= (p.Leu4152=)
c.12453G= (p.Leu4151=)
c.12426G= (p.Leu4142=)
c.12408G= (p.Leu4136=)
c.12354G= (p.Leu4118=)
c.12273G= (p.Leu4091=)
c.12216G= (p.Leu4072=)
c.10302G= (p.Leu3434=)
c.9480G= (p.Leu3160=)
n.12320G=
c.12522G= (p.Leu4174=)
c.12450G= (p.Leu4150=)
c.12312G= (p.Leu4104=)
c.10398G= (p.Leu3466=)
16g.2090327C>GCA493044205PKD1c.12402G>C (p.Leu4134=)
c.12399G>C (p.Leu4133=)
n.430G>C
c.9357G>C (p.Leu3119=)
c.12480G>C (p.Leu4160=)
c.12477G>C (p.Leu4159=)
c.12462G>C (p.Leu4154=)
c.12456G>C (p.Leu4152=)
c.12453G>C (p.Leu4151=)
c.12426G>C (p.Leu4142=)
c.12408G>C (p.Leu4136=)
c.12354G>C (p.Leu4118=)
c.12273G>C (p.Leu4091=)
c.12216G>C (p.Leu4072=)
c.10302G>C (p.Leu3434=)
c.9480G>C (p.Leu3160=)
n.12320G>C
c.12522G>C (p.Leu4174=)
c.12450G>C (p.Leu4150=)
c.12312G>C (p.Leu4104=)
c.10398G>C (p.Leu3466=)
16g.2090327C>TCA493044206PKD1c.12402G>A (p.Leu4134=)
c.12399G>A (p.Leu4133=)
n.430G>A
c.9357G>A (p.Leu3119=)
c.12480G>A (p.Leu4160=)
c.12477G>A (p.Leu4159=)
c.12462G>A (p.Leu4154=)
c.12456G>A (p.Leu4152=)
c.12453G>A (p.Leu4151=)
c.12426G>A (p.Leu4142=)
c.12408G>A (p.Leu4136=)
c.12354G>A (p.Leu4118=)
c.12273G>A (p.Leu4091=)
c.12216G>A (p.Leu4072=)
c.10302G>A (p.Leu3434=)
c.9480G>A (p.Leu3160=)
n.12320G>A
c.12522G>A (p.Leu4174=)
c.12450G>A (p.Leu4150=)
c.12312G>A (p.Leu4104=)
c.10398G>A (p.Leu3466=)
 ClinVar dbSNP gnomAD v4
16g.2090328A=CA2202041394PKD1c.12401T= (p.Leu4134=)
c.12398T= (p.Leu4133=)
n.429T=
c.9356T= (p.Leu3119=)
c.12479T= (p.Leu4160=)
c.12476T= (p.Leu4159=)
c.12461T= (p.Leu4154=)
c.12455T= (p.Leu4152=)
c.12452T= (p.Leu4151=)
c.12425T= (p.Leu4142=)
c.12407T= (p.Leu4136=)
c.12353T= (p.Leu4118=)
c.12272T= (p.Leu4091=)
c.12215T= (p.Leu4072=)
c.10301T= (p.Leu3434=)
c.9479T= (p.Leu3160=)
n.12319T=
c.12521T= (p.Leu4174=)
c.12449T= (p.Leu4150=)
c.12311T= (p.Leu4104=)
c.10397T= (p.Leu3466=)
16g.2090328A>CCA394324734PKD1c.12401T>G (p.Leu4134Arg)
c.12398T>G (p.Leu4133Arg)
n.429T>G
c.9356T>G (p.Leu3119Arg)
c.12479T>G (p.Leu4160Arg)
c.12476T>G (p.Leu4159Arg)
c.12461T>G (p.Leu4154Arg)
c.12455T>G (p.Leu4152Arg)
c.12452T>G (p.Leu4151Arg)
c.12425T>G (p.Leu4142Arg)
c.12407T>G (p.Leu4136Arg)
c.12353T>G (p.Leu4118Arg)
c.12272T>G (p.Leu4091Arg)
c.12215T>G (p.Leu4072Arg)
c.10301T>G (p.Leu3434Arg)
c.9479T>G (p.Leu3160Arg)
n.12319T>G
c.12521T>G (p.Leu4174Arg)
c.12449T>G (p.Leu4150Arg)
c.12311T>G (p.Leu4104Arg)
c.10397T>G (p.Leu3466Arg)
 dbSNP gnomAD v3 gnomAD v4
16g.2090328A>GCA394324739PKD1c.12401T>C (p.Leu4134Pro)
c.12398T>C (p.Leu4133Pro)
n.429T>C
c.9356T>C (p.Leu3119Pro)
c.12479T>C (p.Leu4160Pro)
c.12476T>C (p.Leu4159Pro)
c.12461T>C (p.Leu4154Pro)
c.12455T>C (p.Leu4152Pro)
c.12452T>C (p.Leu4151Pro)
c.12425T>C (p.Leu4142Pro)
c.12407T>C (p.Leu4136Pro)
c.12353T>C (p.Leu4118Pro)
c.12272T>C (p.Leu4091Pro)
c.12215T>C (p.Leu4072Pro)
c.10301T>C (p.Leu3434Pro)
c.9479T>C (p.Leu3160Pro)
n.12319T>C
c.12521T>C (p.Leu4174Pro)
c.12449T>C (p.Leu4150Pro)
c.12311T>C (p.Leu4104Pro)
c.10397T>C (p.Leu3466Pro)
16g.2090328A>TCA394324731PKD1c.12401T>A (p.Leu4134Gln)
c.12398T>A (p.Leu4133Gln)
n.429T>A
c.9356T>A (p.Leu3119Gln)
c.12479T>A (p.Leu4160Gln)
c.12476T>A (p.Leu4159Gln)
c.12461T>A (p.Leu4154Gln)
c.12455T>A (p.Leu4152Gln)
c.12452T>A (p.Leu4151Gln)
c.12425T>A (p.Leu4142Gln)
c.12407T>A (p.Leu4136Gln)
c.12353T>A (p.Leu4118Gln)
c.12272T>A (p.Leu4091Gln)
c.12215T>A (p.Leu4072Gln)
c.10301T>A (p.Leu3434Gln)
c.9479T>A (p.Leu3160Gln)
n.12319T>A
c.12521T>A (p.Leu4174Gln)
c.12449T>A (p.Leu4150Gln)
c.12311T>A (p.Leu4104Gln)
c.10397T>A (p.Leu3466Gln)
16g.2090329G>ACA7828658PKD1c.12400C>T (p.Leu4134=)
c.12397C>T (p.Leu4133=)
n.428C>T
c.9355C>T (p.Leu3119=)
c.12478C>T (p.Leu4160=)
c.12475C>T (p.Leu4159=)
c.12460C>T (p.Leu4154=)
c.12454C>T (p.Leu4152=)
c.12451C>T (p.Leu4151=)
c.12424C>T (p.Leu4142=)
c.12406C>T (p.Leu4136=)
c.12352C>T (p.Leu4118=)
c.12271C>T (p.Leu4091=)
c.12214C>T (p.Leu4072=)
c.10300C>T (p.Leu3434=)
c.9478C>T (p.Leu3160=)
n.12318C>T
c.12520C>T (p.Leu4174=)
c.12448C>T (p.Leu4150=)
c.12310C>T (p.Leu4104=)
c.10396C>T (p.Leu3466=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090329G>CCA394324745PKD1c.12400C>G (p.Leu4134Val)
c.12397C>G (p.Leu4133Val)
n.428C>G
c.9355C>G (p.Leu3119Val)
c.12478C>G (p.Leu4160Val)
c.12475C>G (p.Leu4159Val)
c.12460C>G (p.Leu4154Val)
c.12454C>G (p.Leu4152Val)
c.12451C>G (p.Leu4151Val)
c.12424C>G (p.Leu4142Val)
c.12406C>G (p.Leu4136Val)
c.12352C>G (p.Leu4118Val)
c.12271C>G (p.Leu4091Val)
c.12214C>G (p.Leu4072Val)
c.10300C>G (p.Leu3434Val)
c.9478C>G (p.Leu3160Val)
n.12318C>G
c.12520C>G (p.Leu4174Val)
c.12448C>G (p.Leu4150Val)
c.12310C>G (p.Leu4104Val)
c.10396C>G (p.Leu3466Val)
16g.2090329G=CA2202041396PKD1c.12400C= (p.Leu4134=)
c.12397C= (p.Leu4133=)
n.428C=
c.9355C= (p.Leu3119=)
c.12478C= (p.Leu4160=)
c.12475C= (p.Leu4159=)
c.12460C= (p.Leu4154=)
c.12454C= (p.Leu4152=)
c.12451C= (p.Leu4151=)
c.12424C= (p.Leu4142=)
c.12406C= (p.Leu4136=)
c.12352C= (p.Leu4118=)
c.12271C= (p.Leu4091=)
c.12214C= (p.Leu4072=)
c.10300C= (p.Leu3434=)
c.9478C= (p.Leu3160=)
n.12318C=
c.12520C= (p.Leu4174=)
c.12448C= (p.Leu4150=)
c.12310C= (p.Leu4104=)
c.10396C= (p.Leu3466=)
16g.2090329G>TCA394324747PKD1c.12400C>A (p.Leu4134Met)
c.12397C>A (p.Leu4133Met)
n.428C>A
c.9355C>A (p.Leu3119Met)
c.12478C>A (p.Leu4160Met)
c.12475C>A (p.Leu4159Met)
c.12460C>A (p.Leu4154Met)
c.12454C>A (p.Leu4152Met)
c.12451C>A (p.Leu4151Met)
c.12424C>A (p.Leu4142Met)
c.12406C>A (p.Leu4136Met)
c.12352C>A (p.Leu4118Met)
c.12271C>A (p.Leu4091Met)
c.12214C>A (p.Leu4072Met)
c.10300C>A (p.Leu3434Met)
c.9478C>A (p.Leu3160Met)
n.12318C>A
c.12520C>A (p.Leu4174Met)
c.12448C>A (p.Leu4150Met)
c.12310C>A (p.Leu4104Met)
c.10396C>A (p.Leu3466Met)
16g.2090330G>ACA7828659PKD1c.12399C>T (p.Phe4133=)
c.12396C>T (p.Phe4132=)
n.427C>T
c.9354C>T (p.Phe3118=)
c.12477C>T (p.Phe4159=)
c.12474C>T (p.Phe4158=)
c.12459C>T (p.Phe4153=)
c.12453C>T (p.Phe4151=)
c.12450C>T (p.Phe4150=)
c.12423C>T (p.Phe4141=)
c.12405C>T (p.Phe4135=)
c.12351C>T (p.Phe4117=)
c.12270C>T (p.Phe4090=)
c.12213C>T (p.Phe4071=)
c.10299C>T (p.Phe3433=)
c.9477C>T (p.Phe3159=)
n.12317C>T
c.12519C>T (p.Phe4173=)
c.12447C>T (p.Phe4149=)
c.12309C>T (p.Phe4103=)
c.10395C>T (p.Phe3465=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090330G>CCA394324752PKD1c.12399C>G (p.Phe4133Leu)
c.12396C>G (p.Phe4132Leu)
n.427C>G
c.9354C>G (p.Phe3118Leu)
c.12477C>G (p.Phe4159Leu)
c.12474C>G (p.Phe4158Leu)
c.12459C>G (p.Phe4153Leu)
c.12453C>G (p.Phe4151Leu)
c.12450C>G (p.Phe4150Leu)
c.12423C>G (p.Phe4141Leu)
c.12405C>G (p.Phe4135Leu)
c.12351C>G (p.Phe4117Leu)
c.12270C>G (p.Phe4090Leu)
c.12213C>G (p.Phe4071Leu)
c.10299C>G (p.Phe3433Leu)
c.9477C>G (p.Phe3159Leu)
n.12317C>G
c.12519C>G (p.Phe4173Leu)
c.12447C>G (p.Phe4149Leu)
c.12309C>G (p.Phe4103Leu)
c.10395C>G (p.Phe3465Leu)
 gnomAD v4
16g.2090330G=CA2202041399PKD1c.12399C= (p.Phe4133=)
c.12396C= (p.Phe4132=)
n.427C=
c.9354C= (p.Phe3118=)
c.12477C= (p.Phe4159=)
c.12474C= (p.Phe4158=)
c.12459C= (p.Phe4153=)
c.12453C= (p.Phe4151=)
c.12450C= (p.Phe4150=)
c.12423C= (p.Phe4141=)
c.12405C= (p.Phe4135=)
c.12351C= (p.Phe4117=)
c.12270C= (p.Phe4090=)
c.12213C= (p.Phe4071=)
c.10299C= (p.Phe3433=)
c.9477C= (p.Phe3159=)
n.12317C=
c.12519C= (p.Phe4173=)
c.12447C= (p.Phe4149=)
c.12309C= (p.Phe4103=)
c.10395C= (p.Phe3465=)
16g.2090330G>TCA7828660PKD1c.12399C>A (p.Phe4133Leu)
c.12396C>A (p.Phe4132Leu)
n.427C>A
c.9354C>A (p.Phe3118Leu)
c.12477C>A (p.Phe4159Leu)
c.12474C>A (p.Phe4158Leu)
c.12459C>A (p.Phe4153Leu)
c.12453C>A (p.Phe4151Leu)
c.12450C>A (p.Phe4150Leu)
c.12423C>A (p.Phe4141Leu)
c.12405C>A (p.Phe4135Leu)
c.12351C>A (p.Phe4117Leu)
c.12270C>A (p.Phe4090Leu)
c.12213C>A (p.Phe4071Leu)
c.10299C>A (p.Phe3433Leu)
c.9477C>A (p.Phe3159Leu)
n.12317C>A
c.12519C>A (p.Phe4173Leu)
c.12447C>A (p.Phe4149Leu)
c.12309C>A (p.Phe4103Leu)
c.10395C>A (p.Phe3465Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2090331A>CCA394324762PKD1c.12398T>G (p.Phe4133Cys)
c.12395T>G (p.Phe4132Cys)
n.426T>G
c.9353T>G (p.Phe3118Cys)
c.12476T>G (p.Phe4159Cys)
c.12473T>G (p.Phe4158Cys)
c.12458T>G (p.Phe4153Cys)
c.12452T>G (p.Phe4151Cys)
c.12449T>G (p.Phe4150Cys)
c.12422T>G (p.Phe4141Cys)
c.12404T>G (p.Phe4135Cys)
c.12350T>G (p.Phe4117Cys)
c.12269T>G (p.Phe4090Cys)
c.12212T>G (p.Phe4071Cys)
c.10298T>G (p.Phe3433Cys)
c.9476T>G (p.Phe3159Cys)
n.12316T>G
c.12518T>G (p.Phe4173Cys)
c.12446T>G (p.Phe4149Cys)
c.12308T>G (p.Phe4103Cys)
c.10394T>G (p.Phe3465Cys)
16g.2090331A>GCA394324767PKD1c.12398T>C (p.Phe4133Ser)
c.12395T>C (p.Phe4132Ser)
n.426T>C
c.9353T>C (p.Phe3118Ser)
c.12476T>C (p.Phe4159Ser)
c.12473T>C (p.Phe4158Ser)
c.12458T>C (p.Phe4153Ser)
c.12452T>C (p.Phe4151Ser)
c.12449T>C (p.Phe4150Ser)
c.12422T>C (p.Phe4141Ser)
c.12404T>C (p.Phe4135Ser)
c.12350T>C (p.Phe4117Ser)
c.12269T>C (p.Phe4090Ser)
c.12212T>C (p.Phe4071Ser)
c.10298T>C (p.Phe3433Ser)
c.9476T>C (p.Phe3159Ser)
n.12316T>C
c.12518T>C (p.Phe4173Ser)
c.12446T>C (p.Phe4149Ser)
c.12308T>C (p.Phe4103Ser)
c.10394T>C (p.Phe3465Ser)
16g.2090331A>TCA394324770PKD1c.12398T>A (p.Phe4133Tyr)
c.12395T>A (p.Phe4132Tyr)
n.426T>A
c.9353T>A (p.Phe3118Tyr)
c.12476T>A (p.Phe4159Tyr)
c.12473T>A (p.Phe4158Tyr)
c.12458T>A (p.Phe4153Tyr)
c.12452T>A (p.Phe4151Tyr)
c.12449T>A (p.Phe4150Tyr)
c.12422T>A (p.Phe4141Tyr)
c.12404T>A (p.Phe4135Tyr)
c.12350T>A (p.Phe4117Tyr)
c.12269T>A (p.Phe4090Tyr)
c.12212T>A (p.Phe4071Tyr)
c.10298T>A (p.Phe3433Tyr)
c.9476T>A (p.Phe3159Tyr)
n.12316T>A
c.12518T>A (p.Phe4173Tyr)
c.12446T>A (p.Phe4149Tyr)
c.12308T>A (p.Phe4103Tyr)
c.10394T>A (p.Phe3465Tyr)
16g.2090334_2090336delCA2695221498PKD1c.12396_12398del (p.Leu4132del)
c.12393_12395del (p.Leu4131del)
n.424_426del
c.9351_9353del (p.Leu3117del)
c.12474_12476del (p.Leu4158del)
c.12471_12473del (p.Leu4157del)
c.12456_12458del (p.Leu4152del)
c.12450_12452del (p.Leu4150del)
c.12447_12449del (p.Leu4149del)
c.12420_12422del (p.Leu4140del)
c.12402_12404del (p.Leu4134del)
c.12348_12350del (p.Leu4116del)
c.12267_12269del (p.Leu4089del)
c.12210_12212del (p.Leu4070del)
c.10296_10298del (p.Leu3432del)
c.9474_9476del (p.Leu3158del)
n.12314_12316del
c.12516_12518del (p.Leu4172del)
c.12444_12446del (p.Leu4148del)
c.12306_12308del (p.Leu4102del)
c.10392_10394del (p.Leu3464del)
16g.2090332A>CCA394324774PKD1c.12397T>G (p.Phe4133Val)
c.12394T>G (p.Phe4132Val)
n.425T>G
c.9352T>G (p.Phe3118Val)
c.12475T>G (p.Phe4159Val)
c.12472T>G (p.Phe4158Val)
c.12457T>G (p.Phe4153Val)
c.12451T>G (p.Phe4151Val)
c.12448T>G (p.Phe4150Val)
c.12421T>G (p.Phe4141Val)
c.12403T>G (p.Phe4135Val)
c.12349T>G (p.Phe4117Val)
c.12268T>G (p.Phe4090Val)
c.12211T>G (p.Phe4071Val)
c.10297T>G (p.Phe3433Val)
c.9475T>G (p.Phe3159Val)
n.12315T>G
c.12517T>G (p.Phe4173Val)
c.12445T>G (p.Phe4149Val)
c.12307T>G (p.Phe4103Val)
c.10393T>G (p.Phe3465Val)
16g.2090332A>GCA394324779PKD1c.12397T>C (p.Phe4133Leu)
c.12394T>C (p.Phe4132Leu)
n.425T>C
c.9352T>C (p.Phe3118Leu)
c.12475T>C (p.Phe4159Leu)
c.12472T>C (p.Phe4158Leu)
c.12457T>C (p.Phe4153Leu)
c.12451T>C (p.Phe4151Leu)
c.12448T>C (p.Phe4150Leu)
c.12421T>C (p.Phe4141Leu)
c.12403T>C (p.Phe4135Leu)
c.12349T>C (p.Phe4117Leu)
c.12268T>C (p.Phe4090Leu)
c.12211T>C (p.Phe4071Leu)
c.10297T>C (p.Phe3433Leu)
c.9475T>C (p.Phe3159Leu)
n.12315T>C
c.12517T>C (p.Phe4173Leu)
c.12445T>C (p.Phe4149Leu)
c.12307T>C (p.Phe4103Leu)
c.10393T>C (p.Phe3465Leu)
16g.2090332A>TCA394324780PKD1c.12397T>A (p.Phe4133Ile)
c.12394T>A (p.Phe4132Ile)
n.425T>A
c.9352T>A (p.Phe3118Ile)
c.12475T>A (p.Phe4159Ile)
c.12472T>A (p.Phe4158Ile)
c.12457T>A (p.Phe4153Ile)
c.12451T>A (p.Phe4151Ile)
c.12448T>A (p.Phe4150Ile)
c.12421T>A (p.Phe4141Ile)
c.12403T>A (p.Phe4135Ile)
c.12349T>A (p.Phe4117Ile)
c.12268T>A (p.Phe4090Ile)
c.12211T>A (p.Phe4071Ile)
c.10297T>A (p.Phe3433Ile)
c.9475T>A (p.Phe3159Ile)
n.12315T>A
c.12517T>A (p.Phe4173Ile)
c.12445T>A (p.Phe4149Ile)
c.12307T>A (p.Phe4103Ile)
c.10393T>A (p.Phe3465Ile)
16g.2090333C>ACA394324796PKD1c.12396G>T (p.Leu4132Phe)
c.12393G>T (p.Leu4131Phe)
n.424G>T
c.9351G>T (p.Leu3117Phe)
c.12474G>T (p.Leu4158Phe)
c.12471G>T (p.Leu4157Phe)
c.12456G>T (p.Leu4152Phe)
c.12450G>T (p.Leu4150Phe)
c.12447G>T (p.Leu4149Phe)
c.12420G>T (p.Leu4140Phe)
c.12402G>T (p.Leu4134Phe)
c.12348G>T (p.Leu4116Phe)
c.12267G>T (p.Leu4089Phe)
c.12210G>T (p.Leu4070Phe)
c.10296G>T (p.Leu3432Phe)
c.9474G>T (p.Leu3158Phe)
n.12314G>T
c.12516G>T (p.Leu4172Phe)
c.12444G>T (p.Leu4148Phe)
c.12306G>T (p.Leu4102Phe)
c.10392G>T (p.Leu3464Phe)
16g.2090333C>GCA394324792PKD1c.12396G>C (p.Leu4132Phe)
c.12393G>C (p.Leu4131Phe)
n.424G>C
c.9351G>C (p.Leu3117Phe)
c.12474G>C (p.Leu4158Phe)
c.12471G>C (p.Leu4157Phe)
c.12456G>C (p.Leu4152Phe)
c.12450G>C (p.Leu4150Phe)
c.12447G>C (p.Leu4149Phe)
c.12420G>C (p.Leu4140Phe)
c.12402G>C (p.Leu4134Phe)
c.12348G>C (p.Leu4116Phe)
c.12267G>C (p.Leu4089Phe)
c.12210G>C (p.Leu4070Phe)
c.10296G>C (p.Leu3432Phe)
c.9474G>C (p.Leu3158Phe)
n.12314G>C
c.12516G>C (p.Leu4172Phe)
c.12444G>C (p.Leu4148Phe)
c.12306G>C (p.Leu4102Phe)
c.10392G>C (p.Leu3464Phe)
 gnomAD v4
16g.2090333C>TCA493044210PKD1c.12396G>A (p.Leu4132=)
c.12393G>A (p.Leu4131=)
n.424G>A
c.9351G>A (p.Leu3117=)
c.12474G>A (p.Leu4158=)
c.12471G>A (p.Leu4157=)
c.12456G>A (p.Leu4152=)
c.12450G>A (p.Leu4150=)
c.12447G>A (p.Leu4149=)
c.12420G>A (p.Leu4140=)
c.12402G>A (p.Leu4134=)
c.12348G>A (p.Leu4116=)
c.12267G>A (p.Leu4089=)
c.12210G>A (p.Leu4070=)
c.10296G>A (p.Leu3432=)
c.9474G>A (p.Leu3158=)
n.12314G>A
c.12516G>A (p.Leu4172=)
c.12444G>A (p.Leu4148=)
c.12306G>A (p.Leu4102=)
c.10392G>A (p.Leu3464=)
16g.2090334A>CCA394324801PKD1c.12395T>G (p.Leu4132Trp)
c.12392T>G (p.Leu4131Trp)
n.423T>G
c.9350T>G (p.Leu3117Trp)
c.12473T>G (p.Leu4158Trp)
c.12470T>G (p.Leu4157Trp)
c.12455T>G (p.Leu4152Trp)
c.12449T>G (p.Leu4150Trp)
c.12446T>G (p.Leu4149Trp)
c.12419T>G (p.Leu4140Trp)
c.12401T>G (p.Leu4134Trp)
c.12347T>G (p.Leu4116Trp)
c.12266T>G (p.Leu4089Trp)
c.12209T>G (p.Leu4070Trp)
c.10295T>G (p.Leu3432Trp)
c.9473T>G (p.Leu3158Trp)
n.12313T>G
c.12515T>G (p.Leu4172Trp)
c.12443T>G (p.Leu4148Trp)
c.12305T>G (p.Leu4102Trp)
c.10391T>G (p.Leu3464Trp)
16g.2090334A>GCA394324803PKD1c.12395T>C (p.Leu4132Ser)
c.12392T>C (p.Leu4131Ser)
n.423T>C
c.9350T>C (p.Leu3117Ser)
c.12473T>C (p.Leu4158Ser)
c.12470T>C (p.Leu4157Ser)
c.12455T>C (p.Leu4152Ser)
c.12449T>C (p.Leu4150Ser)
c.12446T>C (p.Leu4149Ser)
c.12419T>C (p.Leu4140Ser)
c.12401T>C (p.Leu4134Ser)
c.12347T>C (p.Leu4116Ser)
c.12266T>C (p.Leu4089Ser)
c.12209T>C (p.Leu4070Ser)
c.10295T>C (p.Leu3432Ser)
c.9473T>C (p.Leu3158Ser)
n.12313T>C
c.12515T>C (p.Leu4172Ser)
c.12443T>C (p.Leu4148Ser)
c.12305T>C (p.Leu4102Ser)
c.10391T>C (p.Leu3464Ser)
16g.2090334A>TCA394324809PKD1c.12395T>A (p.Leu4132Ter)
c.12392T>A (p.Leu4131Ter)
n.423T>A
c.9350T>A (p.Leu3117Ter)
c.12473T>A (p.Leu4158Ter)
c.12470T>A (p.Leu4157Ter)
c.12455T>A (p.Leu4152Ter)
c.12449T>A (p.Leu4150Ter)
c.12446T>A (p.Leu4149Ter)
c.12419T>A (p.Leu4140Ter)
c.12401T>A (p.Leu4134Ter)
c.12347T>A (p.Leu4116Ter)
c.12266T>A (p.Leu4089Ter)
c.12209T>A (p.Leu4070Ter)
c.10295T>A (p.Leu3432Ter)
c.9473T>A (p.Leu3158Ter)
n.12313T>A
c.12515T>A (p.Leu4172Ter)
c.12443T>A (p.Leu4148Ter)
c.12305T>A (p.Leu4102Ter)
c.10391T>A (p.Leu3464Ter)
16g.2090335A>CCA394324814PKD1c.12394T>G (p.Leu4132Val)
c.12391T>G (p.Leu4131Val)
n.422T>G
c.9349T>G (p.Leu3117Val)
c.12472T>G (p.Leu4158Val)
c.12469T>G (p.Leu4157Val)
c.12454T>G (p.Leu4152Val)
c.12448T>G (p.Leu4150Val)
c.12445T>G (p.Leu4149Val)
c.12418T>G (p.Leu4140Val)
c.12400T>G (p.Leu4134Val)
c.12346T>G (p.Leu4116Val)
c.12265T>G (p.Leu4089Val)
c.12208T>G (p.Leu4070Val)
c.10294T>G (p.Leu3432Val)
c.9472T>G (p.Leu3158Val)
n.12312T>G
c.12514T>G (p.Leu4172Val)
c.12442T>G (p.Leu4148Val)
c.12304T>G (p.Leu4102Val)
c.10390T>G (p.Leu3464Val)
16g.2090335A>GCA493044213PKD1c.12394T>C (p.Leu4132=)
c.12391T>C (p.Leu4131=)
n.422T>C
c.9349T>C (p.Leu3117=)
c.12472T>C (p.Leu4158=)
c.12469T>C (p.Leu4157=)
c.12454T>C (p.Leu4152=)
c.12448T>C (p.Leu4150=)
c.12445T>C (p.Leu4149=)
c.12418T>C (p.Leu4140=)
c.12400T>C (p.Leu4134=)
c.12346T>C (p.Leu4116=)
c.12265T>C (p.Leu4089=)
c.12208T>C (p.Leu4070=)
c.10294T>C (p.Leu3432=)
c.9472T>C (p.Leu3158=)
n.12312T>C
c.12514T>C (p.Leu4172=)
c.12442T>C (p.Leu4148=)
c.12304T>C (p.Leu4102=)
c.10390T>C (p.Leu3464=)
16g.2090335A>TCA394324819PKD1c.12394T>A (p.Leu4132Met)
c.12391T>A (p.Leu4131Met)
n.422T>A
c.9349T>A (p.Leu3117Met)
c.12472T>A (p.Leu4158Met)
c.12469T>A (p.Leu4157Met)
c.12454T>A (p.Leu4152Met)
c.12448T>A (p.Leu4150Met)
c.12445T>A (p.Leu4149Met)
c.12418T>A (p.Leu4140Met)
c.12400T>A (p.Leu4134Met)
c.12346T>A (p.Leu4116Met)
c.12265T>A (p.Leu4089Met)
c.12208T>A (p.Leu4070Met)
c.10294T>A (p.Leu3432Met)
c.9472T>A (p.Leu3158Met)
n.12312T>A
c.12514T>A (p.Leu4172Met)
c.12442T>A (p.Leu4148Met)
c.12304T>A (p.Leu4102Met)
c.10390T>A (p.Leu3464Met)
16g.2090335_2090338delinsACTCCA2202041400PKD1c.12391_12394delinsGAGT (p.Glu4131=)
c.12388_12391delinsGAGT (p.Glu4130=)
n.419_422delinsGAGT
c.9346_9349delinsGAGT (p.Glu3116=)
c.12469_12472delinsGAGT (p.Glu4157=)
c.12466_12469delinsGAGT (p.Glu4156=)
c.12451_12454delinsGAGT (p.Glu4151=)
c.12445_12448delinsGAGT (p.Glu4149=)
c.12442_12445delinsGAGT (p.Glu4148=)
c.12415_12418delinsGAGT (p.Glu4139=)
c.12397_12400delinsGAGT (p.Glu4133=)
c.12343_12346delinsGAGT (p.Glu4115=)
c.12262_12265delinsGAGT (p.Glu4088=)
c.12205_12208delinsGAGT (p.Glu4069=)
c.10291_10294delinsGAGT (p.Glu3431=)
c.9469_9472delinsGAGT (p.Glu3157=)
n.12309_12312delinsGAGT
c.12511_12514delinsGAGT (p.Glu4171=)
c.12439_12442delinsGAGT (p.Glu4147=)
c.12301_12304delinsGAGT (p.Glu4101=)
c.10387_10390delinsGAGT (p.Glu3463=)
16g.2090336C>ACA394324821PKD1c.12393G>T (p.Glu4131Asp)
c.12390G>T (p.Glu4130Asp)
n.421G>T
c.9348G>T (p.Glu3116Asp)
c.12471G>T (p.Glu4157Asp)
c.12468G>T (p.Glu4156Asp)
c.12453G>T (p.Glu4151Asp)
c.12447G>T (p.Glu4149Asp)
c.12444G>T (p.Glu4148Asp)
c.12417G>T (p.Glu4139Asp)
c.12399G>T (p.Glu4133Asp)
c.12345G>T (p.Glu4115Asp)
c.12264G>T (p.Glu4088Asp)
c.12207G>T (p.Glu4069Asp)
c.10293G>T (p.Glu3431Asp)
c.9471G>T (p.Glu3157Asp)
n.12311G>T
c.12513G>T (p.Glu4171Asp)
c.12441G>T (p.Glu4147Asp)
c.12303G>T (p.Glu4101Asp)
c.10389G>T (p.Glu3463Asp)
16g.2090336C>GCA394324824PKD1c.12393G>C (p.Glu4131Asp)
c.12390G>C (p.Glu4130Asp)
n.421G>C
c.9348G>C (p.Glu3116Asp)
c.12471G>C (p.Glu4157Asp)
c.12468G>C (p.Glu4156Asp)
c.12453G>C (p.Glu4151Asp)
c.12447G>C (p.Glu4149Asp)
c.12444G>C (p.Glu4148Asp)
c.12417G>C (p.Glu4139Asp)
c.12399G>C (p.Glu4133Asp)
c.12345G>C (p.Glu4115Asp)
c.12264G>C (p.Glu4088Asp)
c.12207G>C (p.Glu4069Asp)
c.10293G>C (p.Glu3431Asp)
c.9471G>C (p.Glu3157Asp)
n.12311G>C
c.12513G>C (p.Glu4171Asp)
c.12441G>C (p.Glu4147Asp)
c.12303G>C (p.Glu4101Asp)
c.10389G>C (p.Glu3463Asp)
 gnomAD v4
16g.2090336C>TCA493044214PKD1c.12393G>A (p.Glu4131=)
c.12390G>A (p.Glu4130=)
n.421G>A
c.9348G>A (p.Glu3116=)
c.12471G>A (p.Glu4157=)
c.12468G>A (p.Glu4156=)
c.12453G>A (p.Glu4151=)
c.12447G>A (p.Glu4149=)
c.12444G>A (p.Glu4148=)
c.12417G>A (p.Glu4139=)
c.12399G>A (p.Glu4133=)
c.12345G>A (p.Glu4115=)
c.12264G>A (p.Glu4088=)
c.12207G>A (p.Glu4069=)
c.10293G>A (p.Glu3431=)
c.9471G>A (p.Glu3157=)
n.12311G>A
c.12513G>A (p.Glu4171=)
c.12441G>A (p.Glu4147=)
c.12303G>A (p.Glu4101=)
c.10389G>A (p.Glu3463=)
16g.2090337_2090339delCA645373028PKD1c.12391_12393del (p.Glu4131del)
c.12388_12390del (p.Glu4130del)
n.419_421del
c.9346_9348del (p.Glu3116del)
c.12469_12471del (p.Glu4157del)
c.12466_12468del (p.Glu4156del)
c.12451_12453del (p.Glu4151del)
c.12445_12447del (p.Glu4149del)
c.12442_12444del (p.Glu4148del)
c.12415_12417del (p.Glu4139del)
c.12397_12399del (p.Glu4133del)
c.12343_12345del (p.Glu4115del)
c.12262_12264del (p.Glu4088del)
c.12205_12207del (p.Glu4069del)
c.10291_10293del (p.Glu3431del)
c.9469_9471del (p.Glu3157del)
n.12309_12311del
c.12511_12513del (p.Glu4171del)
c.12439_12441del (p.Glu4147del)
c.12301_12303del (p.Glu4101del)
c.10387_10389del (p.Glu3463del)
 ClinVar dbSNP gnomAD v4
16g.2090337T>ACA7828661PKD1c.12392A>T (p.Glu4131Val)
c.12389A>T (p.Glu4130Val)
n.420A>T
c.9347A>T (p.Glu3116Val)
c.12470A>T (p.Glu4157Val)
c.12467A>T (p.Glu4156Val)
c.12452A>T (p.Glu4151Val)
c.12446A>T (p.Glu4149Val)
c.12443A>T (p.Glu4148Val)
c.12416A>T (p.Glu4139Val)
c.12398A>T (p.Glu4133Val)
c.12344A>T (p.Glu4115Val)
c.12263A>T (p.Glu4088Val)
c.12206A>T (p.Glu4069Val)
c.10292A>T (p.Glu3431Val)
c.9470A>T (p.Glu3157Val)
n.12310A>T
c.12512A>T (p.Glu4171Val)
c.12440A>T (p.Glu4147Val)
c.12302A>T (p.Glu4101Val)
c.10388A>T (p.Glu3463Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090337T>CCA394324830PKD1c.12392A>G (p.Glu4131Gly)
c.12389A>G (p.Glu4130Gly)
n.420A>G
c.9347A>G (p.Glu3116Gly)
c.12470A>G (p.Glu4157Gly)
c.12467A>G (p.Glu4156Gly)
c.12452A>G (p.Glu4151Gly)
c.12446A>G (p.Glu4149Gly)
c.12443A>G (p.Glu4148Gly)
c.12416A>G (p.Glu4139Gly)
c.12398A>G (p.Glu4133Gly)
c.12344A>G (p.Glu4115Gly)
c.12263A>G (p.Glu4088Gly)
c.12206A>G (p.Glu4069Gly)
c.10292A>G (p.Glu3431Gly)
c.9470A>G (p.Glu3157Gly)
n.12310A>G
c.12512A>G (p.Glu4171Gly)
c.12440A>G (p.Glu4147Gly)
c.12302A>G (p.Glu4101Gly)
c.10388A>G (p.Glu3463Gly)
 gnomAD v4
16g.2090337T>GCA394324833PKD1c.12392A>C (p.Glu4131Ala)
c.12389A>C (p.Glu4130Ala)
n.420A>C
c.9347A>C (p.Glu3116Ala)
c.12470A>C (p.Glu4157Ala)
c.12467A>C (p.Glu4156Ala)
c.12452A>C (p.Glu4151Ala)
c.12446A>C (p.Glu4149Ala)
c.12443A>C (p.Glu4148Ala)
c.12416A>C (p.Glu4139Ala)
c.12398A>C (p.Glu4133Ala)
c.12344A>C (p.Glu4115Ala)
c.12263A>C (p.Glu4088Ala)
c.12206A>C (p.Glu4069Ala)
c.10292A>C (p.Glu3431Ala)
c.9470A>C (p.Glu3157Ala)
n.12310A>C
c.12512A>C (p.Glu4171Ala)
c.12440A>C (p.Glu4147Ala)
c.12302A>C (p.Glu4101Ala)
c.10388A>C (p.Glu3463Ala)
16g.2090337T=CA2202041409PKD1c.12392A= (p.Glu4131=)
c.12389A= (p.Glu4130=)
n.420A=
c.9347A= (p.Glu3116=)
c.12470A= (p.Glu4157=)
c.12467A= (p.Glu4156=)
c.12452A= (p.Glu4151=)
c.12446A= (p.Glu4149=)
c.12443A= (p.Glu4148=)
c.12416A= (p.Glu4139=)
c.12398A= (p.Glu4133=)
c.12344A= (p.Glu4115=)
c.12263A= (p.Glu4088=)
c.12206A= (p.Glu4069=)
c.10292A= (p.Glu3431=)
c.9470A= (p.Glu3157=)
n.12310A=
c.12512A= (p.Glu4171=)
c.12440A= (p.Glu4147=)
c.12302A= (p.Glu4101=)
c.10388A= (p.Glu3463=)
16g.2090337_2090338delinsAACA2695221499PKD1c.12391_12392delinsTT (p.Glu4131Leu)
c.12388_12389delinsTT (p.Glu4130Leu)
n.419_420delinsTT
c.9346_9347delinsTT (p.Glu3116Leu)
c.12469_12470delinsTT (p.Glu4157Leu)
c.12466_12467delinsTT (p.Glu4156Leu)
c.12451_12452delinsTT (p.Glu4151Leu)
c.12445_12446delinsTT (p.Glu4149Leu)
c.12442_12443delinsTT (p.Glu4148Leu)
c.12415_12416delinsTT (p.Glu4139Leu)
c.12397_12398delinsTT (p.Glu4133Leu)
c.12343_12344delinsTT (p.Glu4115Leu)
c.12262_12263delinsTT (p.Glu4088Leu)
c.12205_12206delinsTT (p.Glu4069Leu)
c.10291_10292delinsTT (p.Glu3431Leu)
c.9469_9470delinsTT (p.Glu3157Leu)
n.12309_12310delinsTT
c.12511_12512delinsTT (p.Glu4171Leu)
c.12439_12440delinsTT (p.Glu4147Leu)
c.12301_12302delinsTT (p.Glu4101Leu)
c.10387_10388delinsTT (p.Glu3463Leu)
16g.2090338C>ACA7828662PKD1c.12391G>T (p.Glu4131Ter)
c.12388G>T (p.Glu4130Ter)
n.419G>T
c.9346G>T (p.Glu3116Ter)
c.12469G>T (p.Glu4157Ter)
c.12466G>T (p.Glu4156Ter)
c.12451G>T (p.Glu4151Ter)
c.12445G>T (p.Glu4149Ter)
c.12442G>T (p.Glu4148Ter)
c.12415G>T (p.Glu4139Ter)
c.12397G>T (p.Glu4133Ter)
c.12343G>T (p.Glu4115Ter)
c.12262G>T (p.Glu4088Ter)
c.12205G>T (p.Glu4069Ter)
c.10291G>T (p.Glu3431Ter)
c.9469G>T (p.Glu3157Ter)
n.12309G>T
c.12511G>T (p.Glu4171Ter)
c.12439G>T (p.Glu4147Ter)
c.12301G>T (p.Glu4101Ter)
c.10387G>T (p.Glu3463Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090338C=CA2202041422PKD1c.12391G= (p.Glu4131=)
c.12388G= (p.Glu4130=)
n.419G=
c.9346G= (p.Glu3116=)
c.12469G= (p.Glu4157=)
c.12466G= (p.Glu4156=)
c.12451G= (p.Glu4151=)
c.12445G= (p.Glu4149=)
c.12442G= (p.Glu4148=)
c.12415G= (p.Glu4139=)
c.12397G= (p.Glu4133=)
c.12343G= (p.Glu4115=)
c.12262G= (p.Glu4088=)
c.12205G= (p.Glu4069=)
c.10291G= (p.Glu3431=)
c.9469G= (p.Glu3157=)
n.12309G=
c.12511G= (p.Glu4171=)
c.12439G= (p.Glu4147=)
c.12301G= (p.Glu4101=)
c.10387G= (p.Glu3463=)
16g.2090338C>GCA394324838PKD1c.12391G>C (p.Glu4131Gln)
c.12388G>C (p.Glu4130Gln)
n.419G>C
c.9346G>C (p.Glu3116Gln)
c.12469G>C (p.Glu4157Gln)
c.12466G>C (p.Glu4156Gln)
c.12451G>C (p.Glu4151Gln)
c.12445G>C (p.Glu4149Gln)
c.12442G>C (p.Glu4148Gln)
c.12415G>C (p.Glu4139Gln)
c.12397G>C (p.Glu4133Gln)
c.12343G>C (p.Glu4115Gln)
c.12262G>C (p.Glu4088Gln)
c.12205G>C (p.Glu4069Gln)
c.10291G>C (p.Glu3431Gln)
c.9469G>C (p.Glu3157Gln)
n.12309G>C
c.12511G>C (p.Glu4171Gln)
c.12439G>C (p.Glu4147Gln)
c.12301G>C (p.Glu4101Gln)
c.10387G>C (p.Glu3463Gln)
16g.2090338C>TCA394324841PKD1c.12391G>A (p.Glu4131Lys)
c.12388G>A (p.Glu4130Lys)
n.419G>A
c.9346G>A (p.Glu3116Lys)
c.12469G>A (p.Glu4157Lys)
c.12466G>A (p.Glu4156Lys)
c.12451G>A (p.Glu4151Lys)
c.12445G>A (p.Glu4149Lys)
c.12442G>A (p.Glu4148Lys)
c.12415G>A (p.Glu4139Lys)
c.12397G>A (p.Glu4133Lys)
c.12343G>A (p.Glu4115Lys)
c.12262G>A (p.Glu4088Lys)
c.12205G>A (p.Glu4069Lys)
c.10291G>A (p.Glu3431Lys)
c.9469G>A (p.Glu3157Lys)
n.12309G>A
c.12511G>A (p.Glu4171Lys)
c.12439G>A (p.Glu4147Lys)
c.12301G>A (p.Glu4101Lys)
c.10387G>A (p.Glu3463Lys)
 gnomAD v4
16g.2090339delCA2695221501PKD1c.12391del (p.Glu4131SerfsTer?)
c.12388del (p.Glu4130SerfsTer?)
n.419del
c.9346del (p.Glu3116SerfsTer?)
c.12469del (p.Glu4157SerfsTer?)
c.12466del (p.Glu4156SerfsTer?)
c.12451del (p.Glu4151SerfsTer?)
c.12445del (p.Glu4149SerfsTer?)
c.12442del (p.Glu4148SerfsTer?)
c.12415del (p.Glu4139SerfsTer?)
c.12397del (p.Glu4133SerfsTer?)
c.12343del (p.Glu4115SerfsTer?)
c.12262del (p.Glu4088SerfsTer?)
c.12205del (p.Glu4069SerfsTer?)
c.10291del (p.Glu3431SerfsTer?)
c.9469del (p.Glu3157SerfsTer?)
n.12309del
c.12511del (p.Glu4171SerfsTer?)
c.12439del (p.Glu4147SerfsTer?)
c.12301del (p.Glu4101SerfsTer?)
c.10387del (p.Glu3463SerfsTer?)
16g.2090341_2090343delCA2580612734PKD1c.12389_12391del (p.Val4130del)
c.12386_12388del (p.Val4129del)
n.417_419del
c.9344_9346del (p.Val3115del)
c.12467_12469del (p.Val4156del)
c.12464_12466del (p.Val4155del)
c.12449_12451del (p.Val4150del)
c.12443_12445del (p.Val4148del)
c.12440_12442del (p.Val4147del)
c.12413_12415del (p.Val4138del)
c.12395_12397del (p.Val4132del)
c.12341_12343del (p.Val4114del)
c.12260_12262del (p.Val4087del)
c.12203_12205del (p.Val4068del)
c.10289_10291del (p.Val3430del)
c.9467_9469del (p.Val3156del)
n.12307_12309del
c.12509_12511del (p.Val4170del)
c.12437_12439del (p.Val4146del)
c.12299_12301del (p.Val4100del)
c.10385_10387del (p.Val3462del)
 ClinVar
16g.2090339C>ACA493044217PKD1c.12390G>T (p.Val4130=)
c.12387G>T (p.Val4129=)
n.418G>T
c.9345G>T (p.Val3115=)
c.12468G>T (p.Val4156=)
c.12465G>T (p.Val4155=)
c.12450G>T (p.Val4150=)
c.12444G>T (p.Val4148=)
c.12441G>T (p.Val4147=)
c.12414G>T (p.Val4138=)
c.12396G>T (p.Val4132=)
c.12342G>T (p.Val4114=)
c.12261G>T (p.Val4087=)
c.12204G>T (p.Val4068=)
c.10290G>T (p.Val3430=)
c.9468G>T (p.Val3156=)
n.12308G>T
c.12510G>T (p.Val4170=)
c.12438G>T (p.Val4146=)
c.12300G>T (p.Val4100=)
c.10386G>T (p.Val3462=)
 gnomAD v4
16g.2090339C=CA2202041429PKD1c.12390G= (p.Val4130=)
c.12387G= (p.Val4129=)
n.418G=
c.9345G= (p.Val3115=)
c.12468G= (p.Val4156=)
c.12465G= (p.Val4155=)
c.12450G= (p.Val4150=)
c.12444G= (p.Val4148=)
c.12441G= (p.Val4147=)
c.12414G= (p.Val4138=)
c.12396G= (p.Val4132=)
c.12342G= (p.Val4114=)
c.12261G= (p.Val4087=)
c.12204G= (p.Val4068=)
c.10290G= (p.Val3430=)
c.9468G= (p.Val3156=)
n.12308G=
c.12510G= (p.Val4170=)
c.12438G= (p.Val4146=)
c.12300G= (p.Val4100=)
c.10386G= (p.Val3462=)
16g.2090339C>GCA493044218PKD1c.12390G>C (p.Val4130=)
c.12387G>C (p.Val4129=)
n.418G>C
c.9345G>C (p.Val3115=)
c.12468G>C (p.Val4156=)
c.12465G>C (p.Val4155=)
c.12450G>C (p.Val4150=)
c.12444G>C (p.Val4148=)
c.12441G>C (p.Val4147=)
c.12414G>C (p.Val4138=)
c.12396G>C (p.Val4132=)
c.12342G>C (p.Val4114=)
c.12261G>C (p.Val4087=)
c.12204G>C (p.Val4068=)
c.10290G>C (p.Val3430=)
c.9468G>C (p.Val3156=)
n.12308G>C
c.12510G>C (p.Val4170=)
c.12438G>C (p.Val4146=)
c.12300G>C (p.Val4100=)
c.10386G>C (p.Val3462=)
16g.2090339C>TCA7828663PKD1c.12390G>A (p.Val4130=)
c.12387G>A (p.Val4129=)
n.418G>A
c.9345G>A (p.Val3115=)
c.12468G>A (p.Val4156=)
c.12465G>A (p.Val4155=)
c.12450G>A (p.Val4150=)
c.12444G>A (p.Val4148=)
c.12441G>A (p.Val4147=)
c.12414G>A (p.Val4138=)
c.12396G>A (p.Val4132=)
c.12342G>A (p.Val4114=)
c.12261G>A (p.Val4087=)
c.12204G>A (p.Val4068=)
c.10290G>A (p.Val3430=)
c.9468G>A (p.Val3156=)
n.12308G>A
c.12510G>A (p.Val4170=)
c.12438G>A (p.Val4146=)
c.12300G>A (p.Val4100=)
c.10386G>A (p.Val3462=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2090340A=CA2202041432PKD1c.12389T= (p.Val4130=)
c.12386T= (p.Val4129=)
n.417T=
c.9344T= (p.Val3115=)
c.12467T= (p.Val4156=)
c.12464T= (p.Val4155=)
c.12449T= (p.Val4150=)
c.12443T= (p.Val4148=)
c.12440T= (p.Val4147=)
c.12413T= (p.Val4138=)
c.12395T= (p.Val4132=)
c.12341T= (p.Val4114=)
c.12260T= (p.Val4087=)
c.12203T= (p.Val4068=)
c.10289T= (p.Val3430=)
c.9467T= (p.Val3156=)
n.12307T=
c.12509T= (p.Val4170=)
c.12437T= (p.Val4146=)
c.12299T= (p.Val4100=)
c.10385T= (p.Val3462=)
16g.2090340A>CCA394324853PKD1c.12389T>G (p.Val4130Gly)
c.12386T>G (p.Val4129Gly)
n.417T>G
c.9344T>G (p.Val3115Gly)
c.12467T>G (p.Val4156Gly)
c.12464T>G (p.Val4155Gly)
c.12449T>G (p.Val4150Gly)
c.12443T>G (p.Val4148Gly)
c.12440T>G (p.Val4147Gly)
c.12413T>G (p.Val4138Gly)
c.12395T>G (p.Val4132Gly)
c.12341T>G (p.Val4114Gly)
c.12260T>G (p.Val4087Gly)
c.12203T>G (p.Val4068Gly)
c.10289T>G (p.Val3430Gly)
c.9467T>G (p.Val3156Gly)
n.12307T>G
c.12509T>G (p.Val4170Gly)
c.12437T>G (p.Val4146Gly)
c.12299T>G (p.Val4100Gly)
c.10385T>G (p.Val3462Gly)
16g.2090340A>GCA7828664PKD1c.12389T>C (p.Val4130Ala)
c.12386T>C (p.Val4129Ala)
n.417T>C
c.9344T>C (p.Val3115Ala)
c.12467T>C (p.Val4156Ala)
c.12464T>C (p.Val4155Ala)
c.12449T>C (p.Val4150Ala)
c.12443T>C (p.Val4148Ala)
c.12440T>C (p.Val4147Ala)
c.12413T>C (p.Val4138Ala)
c.12395T>C (p.Val4132Ala)
c.12341T>C (p.Val4114Ala)
c.12260T>C (p.Val4087Ala)
c.12203T>C (p.Val4068Ala)
c.10289T>C (p.Val3430Ala)
c.9467T>C (p.Val3156Ala)
n.12307T>C
c.12509T>C (p.Val4170Ala)
c.12437T>C (p.Val4146Ala)
c.12299T>C (p.Val4100Ala)
c.10385T>C (p.Val3462Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090340A>TCA394324848PKD1c.12389T>A (p.Val4130Glu)
c.12386T>A (p.Val4129Glu)
n.417T>A
c.9344T>A (p.Val3115Glu)
c.12467T>A (p.Val4156Glu)
c.12464T>A (p.Val4155Glu)
c.12449T>A (p.Val4150Glu)
c.12443T>A (p.Val4148Glu)
c.12440T>A (p.Val4147Glu)
c.12413T>A (p.Val4138Glu)
c.12395T>A (p.Val4132Glu)
c.12341T>A (p.Val4114Glu)
c.12260T>A (p.Val4087Glu)
c.12203T>A (p.Val4068Glu)
c.10289T>A (p.Val3430Glu)
c.9467T>A (p.Val3156Glu)
n.12307T>A
c.12509T>A (p.Val4170Glu)
c.12437T>A (p.Val4146Glu)
c.12299T>A (p.Val4100Glu)
c.10385T>A (p.Val3462Glu)
16g.2090341C>ACA394324859PKD1c.12388G>T (p.Val4130Leu)
c.12385G>T (p.Val4129Leu)
n.416G>T
c.9343G>T (p.Val3115Leu)
c.12466G>T (p.Val4156Leu)
c.12463G>T (p.Val4155Leu)
c.12448G>T (p.Val4150Leu)
c.12442G>T (p.Val4148Leu)
c.12439G>T (p.Val4147Leu)
c.12412G>T (p.Val4138Leu)
c.12394G>T (p.Val4132Leu)
c.12340G>T (p.Val4114Leu)
c.12259G>T (p.Val4087Leu)
c.12202G>T (p.Val4068Leu)
c.10288G>T (p.Val3430Leu)
c.9466G>T (p.Val3156Leu)
n.12306G>T
c.12508G>T (p.Val4170Leu)
c.12436G>T (p.Val4146Leu)
c.12298G>T (p.Val4100Leu)
c.10384G>T (p.Val3462Leu)
16g.2090341C=CA2202041435PKD1c.12388G= (p.Val4130=)
c.12385G= (p.Val4129=)
n.416G=
c.9343G= (p.Val3115=)
c.12466G= (p.Val4156=)
c.12463G= (p.Val4155=)
c.12448G= (p.Val4150=)
c.12442G= (p.Val4148=)
c.12439G= (p.Val4147=)
c.12412G= (p.Val4138=)
c.12394G= (p.Val4132=)
c.12340G= (p.Val4114=)
c.12259G= (p.Val4087=)
c.12202G= (p.Val4068=)
c.10288G= (p.Val3430=)
c.9466G= (p.Val3156=)
n.12306G=
c.12508G= (p.Val4170=)
c.12436G= (p.Val4146=)
c.12298G= (p.Val4100=)
c.10384G= (p.Val3462=)
16g.2090341C>GCA394324856PKD1c.12388G>C (p.Val4130Leu)
c.12385G>C (p.Val4129Leu)
n.416G>C
c.9343G>C (p.Val3115Leu)
c.12466G>C (p.Val4156Leu)
c.12463G>C (p.Val4155Leu)
c.12448G>C (p.Val4150Leu)
c.12442G>C (p.Val4148Leu)
c.12439G>C (p.Val4147Leu)
c.12412G>C (p.Val4138Leu)
c.12394G>C (p.Val4132Leu)
c.12340G>C (p.Val4114Leu)
c.12259G>C (p.Val4087Leu)
c.12202G>C (p.Val4068Leu)
c.10288G>C (p.Val3430Leu)
c.9466G>C (p.Val3156Leu)
n.12306G>C
c.12508G>C (p.Val4170Leu)
c.12436G>C (p.Val4146Leu)
c.12298G>C (p.Val4100Leu)
c.10384G>C (p.Val3462Leu)
16g.2090341C>TCA7828665PKD1c.12388G>A (p.Val4130Met)
c.12385G>A (p.Val4129Met)
n.416G>A
c.9343G>A (p.Val3115Met)
c.12466G>A (p.Val4156Met)
c.12463G>A (p.Val4155Met)
c.12448G>A (p.Val4150Met)
c.12442G>A (p.Val4148Met)
c.12439G>A (p.Val4147Met)
c.12412G>A (p.Val4138Met)
c.12394G>A (p.Val4132Met)
c.12340G>A (p.Val4114Met)
c.12259G>A (p.Val4087Met)
c.12202G>A (p.Val4068Met)
c.10288G>A (p.Val3430Met)
c.9466G>A (p.Val3156Met)
n.12306G>A
c.12508G>A (p.Val4170Met)
c.12436G>A (p.Val4146Met)
c.12298G>A (p.Val4100Met)
c.10384G>A (p.Val3462Met)
 dbSNP ExAC gnomAD v2
16g.2090342C>ACA394324873PKD1c.12387G>T (p.Met4129Ile)
c.12384G>T (p.Met4128Ile)
n.415G>T
c.9342G>T (p.Met3114Ile)
c.12465G>T (p.Met4155Ile)
c.12462G>T (p.Met4154Ile)
c.12447G>T (p.Met4149Ile)
c.12441G>T (p.Met4147Ile)
c.12438G>T (p.Met4146Ile)
c.12411G>T (p.Met4137Ile)
c.12393G>T (p.Met4131Ile)
c.12339G>T (p.Met4113Ile)
c.12258G>T (p.Met4086Ile)
c.12201G>T (p.Met4067Ile)
c.10287G>T (p.Met3429Ile)
c.9465G>T (p.Met3155Ile)
n.12305G>T
c.12507G>T (p.Met4169Ile)
c.12435G>T (p.Met4145Ile)
c.12297G>T (p.Met4099Ile)
c.10383G>T (p.Met3461Ile)
16g.2090342C=CA2202041439PKD1c.12387G= (p.Met4129=)
c.12384G= (p.Met4128=)
n.415G=
c.9342G= (p.Met3114=)
c.12465G= (p.Met4155=)
c.12462G= (p.Met4154=)
c.12447G= (p.Met4149=)
c.12441G= (p.Met4147=)
c.12438G= (p.Met4146=)
c.12411G= (p.Met4137=)
c.12393G= (p.Met4131=)
c.12339G= (p.Met4113=)
c.12258G= (p.Met4086=)
c.12201G= (p.Met4067=)
c.10287G= (p.Met3429=)
c.9465G= (p.Met3155=)
n.12305G=
c.12507G= (p.Met4169=)
c.12435G= (p.Met4145=)
c.12297G= (p.Met4099=)
c.10383G= (p.Met3461=)
16g.2090342C>GCA7828666PKD1c.12387G>C (p.Met4129Ile)
c.12384G>C (p.Met4128Ile)
n.415G>C
c.9342G>C (p.Met3114Ile)
c.12465G>C (p.Met4155Ile)
c.12462G>C (p.Met4154Ile)
c.12447G>C (p.Met4149Ile)
c.12441G>C (p.Met4147Ile)
c.12438G>C (p.Met4146Ile)
c.12411G>C (p.Met4137Ile)
c.12393G>C (p.Met4131Ile)
c.12339G>C (p.Met4113Ile)
c.12258G>C (p.Met4086Ile)
c.12201G>C (p.Met4067Ile)
c.10287G>C (p.Met3429Ile)
c.9465G>C (p.Met3155Ile)
n.12305G>C
c.12507G>C (p.Met4169Ile)
c.12435G>C (p.Met4145Ile)
c.12297G>C (p.Met4099Ile)
c.10383G>C (p.Met3461Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2090342C>TCA394324876PKD1c.12387G>A (p.Met4129Ile)
c.12384G>A (p.Met4128Ile)
n.415G>A
c.9342G>A (p.Met3114Ile)
c.12465G>A (p.Met4155Ile)
c.12462G>A (p.Met4154Ile)
c.12447G>A (p.Met4149Ile)
c.12441G>A (p.Met4147Ile)
c.12438G>A (p.Met4146Ile)
c.12411G>A (p.Met4137Ile)
c.12393G>A (p.Met4131Ile)
c.12339G>A (p.Met4113Ile)
c.12258G>A (p.Met4086Ile)
c.12201G>A (p.Met4067Ile)
c.10287G>A (p.Met3429Ile)
c.9465G>A (p.Met3155Ile)
n.12305G>A
c.12507G>A (p.Met4169Ile)
c.12435G>A (p.Met4145Ile)
c.12297G>A (p.Met4099Ile)
c.10383G>A (p.Met3461Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2090343_2090347delCA2499223360PKD1c.12383_12387del (p.Glu4128GlyfsTer27)
c.12380_12384del (p.Glu4127GlyfsTer27)
n.411_415del
c.9338_9342del (p.Glu3113GlyfsTer27)
c.12461_12465del (p.Glu4154GlyfsTer27)
c.12458_12462del (p.Glu4153GlyfsTer27)
c.12443_12447del (p.Glu4148GlyfsTer27)
c.12437_12441del (p.Glu4146GlyfsTer27)
c.12434_12438del (p.Glu4145GlyfsTer27)
c.12407_12411del (p.Glu4136GlyfsTer27)
c.12389_12393del (p.Glu4130GlyfsTer27)
c.12335_12339del (p.Glu4112GlyfsTer27)
c.12254_12258del (p.Glu4085GlyfsTer27)
c.12197_12201del (p.Glu4066GlyfsTer27)
c.10283_10287del (p.Glu3428GlyfsTer27)
c.9461_9465del (p.Glu3154GlyfsTer27)
n.12301_12305del
c.12503_12507del (p.Glu4168GlyfsTer27)
c.12431_12435del (p.Glu4144GlyfsTer27)
c.12293_12297del (p.Glu4098GlyfsTer27)
c.10379_10383del (p.Glu3460GlyfsTer27)
 ClinVar dbSNP
16g.2090343A=CA2202041443PKD1c.12386T= (p.Met4129=)
c.12383T= (p.Met4128=)
n.414T=
c.9341T= (p.Met3114=)
c.12464T= (p.Met4155=)
c.12461T= (p.Met4154=)
c.12446T= (p.Met4149=)
c.12440T= (p.Met4147=)
c.12437T= (p.Met4146=)
c.12410T= (p.Met4137=)
c.12392T= (p.Met4131=)
c.12338T= (p.Met4113=)
c.12257T= (p.Met4086=)
c.12200T= (p.Met4067=)
c.10286T= (p.Met3429=)
c.9464T= (p.Met3155=)
n.12304T=
c.12506T= (p.Met4169=)
c.12434T= (p.Met4145=)
c.12296T= (p.Met4099=)
c.10382T= (p.Met3461=)
16g.2090343A>CCA394324884PKD1c.12386T>G (p.Met4129Arg)
c.12383T>G (p.Met4128Arg)
n.414T>G
c.9341T>G (p.Met3114Arg)
c.12464T>G (p.Met4155Arg)
c.12461T>G (p.Met4154Arg)
c.12446T>G (p.Met4149Arg)
c.12440T>G (p.Met4147Arg)
c.12437T>G (p.Met4146Arg)
c.12410T>G (p.Met4137Arg)
c.12392T>G (p.Met4131Arg)
c.12338T>G (p.Met4113Arg)
c.12257T>G (p.Met4086Arg)
c.12200T>G (p.Met4067Arg)
c.10286T>G (p.Met3429Arg)
c.9464T>G (p.Met3155Arg)
n.12304T>G
c.12506T>G (p.Met4169Arg)
c.12434T>G (p.Met4145Arg)
c.12296T>G (p.Met4099Arg)
c.10382T>G (p.Met3461Arg)
 ClinVar dbSNP
16g.2090343A>GCA394324887PKD1c.12386T>C (p.Met4129Thr)
c.12383T>C (p.Met4128Thr)
n.414T>C
c.9341T>C (p.Met3114Thr)
c.12464T>C (p.Met4155Thr)
c.12461T>C (p.Met4154Thr)
c.12446T>C (p.Met4149Thr)
c.12440T>C (p.Met4147Thr)
c.12437T>C (p.Met4146Thr)
c.12410T>C (p.Met4137Thr)
c.12392T>C (p.Met4131Thr)
c.12338T>C (p.Met4113Thr)
c.12257T>C (p.Met4086Thr)
c.12200T>C (p.Met4067Thr)
c.10286T>C (p.Met3429Thr)
c.9464T>C (p.Met3155Thr)
n.12304T>C
c.12506T>C (p.Met4169Thr)
c.12434T>C (p.Met4145Thr)
c.12296T>C (p.Met4099Thr)
c.10382T>C (p.Met3461Thr)
16g.2090343A>TCA394324889PKD1c.12386T>A (p.Met4129Lys)
c.12383T>A (p.Met4128Lys)
n.414T>A
c.9341T>A (p.Met3114Lys)
c.12464T>A (p.Met4155Lys)
c.12461T>A (p.Met4154Lys)
c.12446T>A (p.Met4149Lys)
c.12440T>A (p.Met4147Lys)
c.12437T>A (p.Met4146Lys)
c.12410T>A (p.Met4137Lys)
c.12392T>A (p.Met4131Lys)
c.12338T>A (p.Met4113Lys)
c.12257T>A (p.Met4086Lys)
c.12200T>A (p.Met4067Lys)
c.10286T>A (p.Met3429Lys)
c.9464T>A (p.Met3155Lys)
n.12304T>A
c.12506T>A (p.Met4169Lys)
c.12434T>A (p.Met4145Lys)
c.12296T>A (p.Met4099Lys)
c.10382T>A (p.Met3461Lys)
16g.2090344delCA2695221504PKD1c.12385del (p.Met4129TrpfsTer?)
c.12382del (p.Met4128TrpfsTer?)
n.413del
c.9340del (p.Met3114TrpfsTer?)
c.12463del (p.Met4155TrpfsTer?)
c.12460del (p.Met4154TrpfsTer?)
c.12445del (p.Met4149TrpfsTer?)
c.12439del (p.Met4147TrpfsTer?)
c.12436del (p.Met4146TrpfsTer?)
c.12409del (p.Met4137TrpfsTer?)
c.12391del (p.Met4131TrpfsTer?)
c.12337del (p.Met4113TrpfsTer?)
c.12256del (p.Met4086TrpfsTer?)
c.12199del (p.Met4067TrpfsTer?)
c.10285del (p.Met3429TrpfsTer?)
c.9463del (p.Met3155TrpfsTer?)
n.12303del
c.12505del (p.Met4169TrpfsTer?)
c.12433del (p.Met4145TrpfsTer?)
c.12295del (p.Met4099TrpfsTer?)
c.10381del (p.Met3461TrpfsTer?)
16g.2090344T>ACA394324894PKD1c.12385A>T (p.Met4129Leu)
c.12382A>T (p.Met4128Leu)
n.413A>T
c.9340A>T (p.Met3114Leu)
c.12463A>T (p.Met4155Leu)
c.12460A>T (p.Met4154Leu)
c.12445A>T (p.Met4149Leu)
c.12439A>T (p.Met4147Leu)
c.12436A>T (p.Met4146Leu)
c.12409A>T (p.Met4137Leu)
c.12391A>T (p.Met4131Leu)
c.12337A>T (p.Met4113Leu)
c.12256A>T (p.Met4086Leu)
c.12199A>T (p.Met4067Leu)
c.10285A>T (p.Met3429Leu)
c.9463A>T (p.Met3155Leu)
n.12303A>T
c.12505A>T (p.Met4169Leu)
c.12433A>T (p.Met4145Leu)
c.12295A>T (p.Met4099Leu)
c.10381A>T (p.Met3461Leu)
16g.2090344T>CCA394324896PKD1c.12385A>G (p.Met4129Val)
c.12382A>G (p.Met4128Val)
n.413A>G
c.9340A>G (p.Met3114Val)
c.12463A>G (p.Met4155Val)
c.12460A>G (p.Met4154Val)
c.12445A>G (p.Met4149Val)
c.12439A>G (p.Met4147Val)
c.12436A>G (p.Met4146Val)
c.12409A>G (p.Met4137Val)
c.12391A>G (p.Met4131Val)
c.12337A>G (p.Met4113Val)
c.12256A>G (p.Met4086Val)
c.12199A>G (p.Met4067Val)
c.10285A>G (p.Met3429Val)
c.9463A>G (p.Met3155Val)
n.12303A>G
c.12505A>G (p.Met4169Val)
c.12433A>G (p.Met4145Val)
c.12295A>G (p.Met4099Val)
c.10381A>G (p.Met3461Val)
 dbSNP gnomAD v2
16g.2090344T>GCA394324901PKD1c.12385A>C (p.Met4129Leu)
c.12382A>C (p.Met4128Leu)
n.413A>C
c.9340A>C (p.Met3114Leu)
c.12463A>C (p.Met4155Leu)
c.12460A>C (p.Met4154Leu)
c.12445A>C (p.Met4149Leu)
c.12439A>C (p.Met4147Leu)
c.12436A>C (p.Met4146Leu)
c.12409A>C (p.Met4137Leu)
c.12391A>C (p.Met4131Leu)
c.12337A>C (p.Met4113Leu)
c.12256A>C (p.Met4086Leu)
c.12199A>C (p.Met4067Leu)
c.10285A>C (p.Met3429Leu)
c.9463A>C (p.Met3155Leu)
n.12303A>C
c.12505A>C (p.Met4169Leu)
c.12433A>C (p.Met4145Leu)
c.12295A>C (p.Met4099Leu)
c.10381A>C (p.Met3461Leu)
16g.2090344T=CA2202041446PKD1c.12385A= (p.Met4129=)
c.12382A= (p.Met4128=)
n.413A=
c.9340A= (p.Met3114=)
c.12463A= (p.Met4155=)
c.12460A= (p.Met4154=)
c.12445A= (p.Met4149=)
c.12439A= (p.Met4147=)
c.12436A= (p.Met4146=)
c.12409A= (p.Met4137=)
c.12391A= (p.Met4131=)
c.12337A= (p.Met4113=)
c.12256A= (p.Met4086=)
c.12199A= (p.Met4067=)
c.10285A= (p.Met3429=)
c.9463A= (p.Met3155=)
n.12303A=
c.12505A= (p.Met4169=)
c.12433A= (p.Met4145=)
c.12295A= (p.Met4099=)
c.10381A= (p.Met3461=)
16g.2090345C>ACA394324905PKD1c.12384G>T (p.Glu4128Asp)
c.12381G>T (p.Glu4127Asp)
n.412G>T
c.9339G>T (p.Glu3113Asp)
c.12462G>T (p.Glu4154Asp)
c.12459G>T (p.Glu4153Asp)
c.12444G>T (p.Glu4148Asp)
c.12438G>T (p.Glu4146Asp)
c.12435G>T (p.Glu4145Asp)
c.12408G>T (p.Glu4136Asp)
c.12390G>T (p.Glu4130Asp)
c.12336G>T (p.Glu4112Asp)
c.12255G>T (p.Glu4085Asp)
c.12198G>T (p.Glu4066Asp)
c.10284G>T (p.Glu3428Asp)
c.9462G>T (p.Glu3154Asp)
n.12302G>T
c.12504G>T (p.Glu4168Asp)
c.12432G>T (p.Glu4144Asp)
c.12294G>T (p.Glu4098Asp)
c.10380G>T (p.Glu3460Asp)
16g.2090345C=CA2202041451PKD1c.12384G= (p.Glu4128=)
c.12381G= (p.Glu4127=)
n.412G=
c.9339G= (p.Glu3113=)
c.12462G= (p.Glu4154=)
c.12459G= (p.Glu4153=)
c.12444G= (p.Glu4148=)
c.12438G= (p.Glu4146=)
c.12435G= (p.Glu4145=)
c.12408G= (p.Glu4136=)
c.12390G= (p.Glu4130=)
c.12336G= (p.Glu4112=)
c.12255G= (p.Glu4085=)
c.12198G= (p.Glu4066=)
c.10284G= (p.Glu3428=)
c.9462G= (p.Glu3154=)
n.12302G=
c.12504G= (p.Glu4168=)
c.12432G= (p.Glu4144=)
c.12294G= (p.Glu4098=)
c.10380G= (p.Glu3460=)
16g.2090345C>GCA394324907PKD1c.12384G>C (p.Glu4128Asp)
c.12381G>C (p.Glu4127Asp)
n.412G>C
c.9339G>C (p.Glu3113Asp)
c.12462G>C (p.Glu4154Asp)
c.12459G>C (p.Glu4153Asp)
c.12444G>C (p.Glu4148Asp)
c.12438G>C (p.Glu4146Asp)
c.12435G>C (p.Glu4145Asp)
c.12408G>C (p.Glu4136Asp)
c.12390G>C (p.Glu4130Asp)
c.12336G>C (p.Glu4112Asp)
c.12255G>C (p.Glu4085Asp)
c.12198G>C (p.Glu4066Asp)
c.10284G>C (p.Glu3428Asp)
c.9462G>C (p.Glu3154Asp)
n.12302G>C
c.12504G>C (p.Glu4168Asp)
c.12432G>C (p.Glu4144Asp)
c.12294G>C (p.Glu4098Asp)
c.10380G>C (p.Glu3460Asp)
16g.2090345C>TCA276763998PKD1c.12384G>A (p.Glu4128=)
c.12381G>A (p.Glu4127=)
n.412G>A
c.9339G>A (p.Glu3113=)
c.12462G>A (p.Glu4154=)
c.12459G>A (p.Glu4153=)
c.12444G>A (p.Glu4148=)
c.12438G>A (p.Glu4146=)
c.12435G>A (p.Glu4145=)
c.12408G>A (p.Glu4136=)
c.12390G>A (p.Glu4130=)
c.12336G>A (p.Glu4112=)
c.12255G>A (p.Glu4085=)
c.12198G>A (p.Glu4066=)
c.10284G>A (p.Glu3428=)
c.9462G>A (p.Glu3154=)
n.12302G>A
c.12504G>A (p.Glu4168=)
c.12432G>A (p.Glu4144=)
c.12294G>A (p.Glu4098=)
c.10380G>A (p.Glu3460=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2090346T>ACA394324914PKD1c.12383A>T (p.Glu4128Val)
c.12380A>T (p.Glu4127Val)
n.411A>T
c.9338A>T (p.Glu3113Val)
c.12461A>T (p.Glu4154Val)
c.12458A>T (p.Glu4153Val)
c.12443A>T (p.Glu4148Val)
c.12437A>T (p.Glu4146Val)
c.12434A>T (p.Glu4145Val)
c.12407A>T (p.Glu4136Val)
c.12389A>T (p.Glu4130Val)
c.12335A>T (p.Glu4112Val)
c.12254A>T (p.Glu4085Val)
c.12197A>T (p.Glu4066Val)
c.10283A>T (p.Glu3428Val)
c.9461A>T (p.Glu3154Val)
n.12301A>T
c.12503A>T (p.Glu4168Val)
c.12431A>T (p.Glu4144Val)
c.12293A>T (p.Glu4098Val)
c.10379A>T (p.Glu3460Val)
16g.2090346T>CCA394324918PKD1c.12383A>G (p.Glu4128Gly)
c.12380A>G (p.Glu4127Gly)
n.411A>G
c.9338A>G (p.Glu3113Gly)
c.12461A>G (p.Glu4154Gly)
c.12458A>G (p.Glu4153Gly)
c.12443A>G (p.Glu4148Gly)
c.12437A>G (p.Glu4146Gly)
c.12434A>G (p.Glu4145Gly)
c.12407A>G (p.Glu4136Gly)
c.12389A>G (p.Glu4130Gly)
c.12335A>G (p.Glu4112Gly)
c.12254A>G (p.Glu4085Gly)
c.12197A>G (p.Glu4066Gly)
c.10283A>G (p.Glu3428Gly)
c.9461A>G (p.Glu3154Gly)
n.12301A>G
c.12503A>G (p.Glu4168Gly)
c.12431A>G (p.Glu4144Gly)
c.12293A>G (p.Glu4098Gly)
c.10379A>G (p.Glu3460Gly)
 gnomAD v4
16g.2090346T>GCA394324922PKD1c.12383A>C (p.Glu4128Ala)
c.12380A>C (p.Glu4127Ala)
n.411A>C
c.9338A>C (p.Glu3113Ala)
c.12461A>C (p.Glu4154Ala)
c.12458A>C (p.Glu4153Ala)
c.12443A>C (p.Glu4148Ala)
c.12437A>C (p.Glu4146Ala)
c.12434A>C (p.Glu4145Ala)
c.12407A>C (p.Glu4136Ala)
c.12389A>C (p.Glu4130Ala)
c.12335A>C (p.Glu4112Ala)
c.12254A>C (p.Glu4085Ala)
c.12197A>C (p.Glu4066Ala)
c.10283A>C (p.Glu3428Ala)
c.9461A>C (p.Glu3154Ala)
n.12301A>C
c.12503A>C (p.Glu4168Ala)
c.12431A>C (p.Glu4144Ala)
c.12293A>C (p.Glu4098Ala)
c.10379A>C (p.Glu3460Ala)
16g.2090347C>ACA394324930PKD1c.12382G>T (p.Glu4128Ter)
c.12379G>T (p.Glu4127Ter)
n.410G>T
c.9337G>T (p.Glu3113Ter)
c.12460G>T (p.Glu4154Ter)
c.12457G>T (p.Glu4153Ter)
c.12442G>T (p.Glu4148Ter)
c.12436G>T (p.Glu4146Ter)
c.12433G>T (p.Glu4145Ter)
c.12406G>T (p.Glu4136Ter)
c.12388G>T (p.Glu4130Ter)
c.12334G>T (p.Glu4112Ter)
c.12253G>T (p.Glu4085Ter)
c.12196G>T (p.Glu4066Ter)
c.10282G>T (p.Glu3428Ter)
c.9460G>T (p.Glu3154Ter)
n.12300G>T
c.12502G>T (p.Glu4168Ter)
c.12430G>T (p.Glu4144Ter)
c.12292G>T (p.Glu4098Ter)
c.10378G>T (p.Glu3460Ter)
 ClinVar
16g.2090347C=CA2202041457PKD1c.12382G= (p.Glu4128=)
c.12379G= (p.Glu4127=)
n.410G=
c.9337G= (p.Glu3113=)
c.12460G= (p.Glu4154=)
c.12457G= (p.Glu4153=)
c.12442G= (p.Glu4148=)
c.12436G= (p.Glu4146=)
c.12433G= (p.Glu4145=)
c.12406G= (p.Glu4136=)
c.12388G= (p.Glu4130=)
c.12334G= (p.Glu4112=)
c.12253G= (p.Glu4085=)
c.12196G= (p.Glu4066=)
c.10282G= (p.Glu3428=)
c.9460G= (p.Glu3154=)
n.12300G=
c.12502G= (p.Glu4168=)
c.12430G= (p.Glu4144=)
c.12292G= (p.Glu4098=)
c.10378G= (p.Glu3460=)
16g.2090347C>GCA394324928PKD1c.12382G>C (p.Glu4128Gln)
c.12379G>C (p.Glu4127Gln)
n.410G>C
c.9337G>C (p.Glu3113Gln)
c.12460G>C (p.Glu4154Gln)
c.12457G>C (p.Glu4153Gln)
c.12442G>C (p.Glu4148Gln)
c.12436G>C (p.Glu4146Gln)
c.12433G>C (p.Glu4145Gln)
c.12406G>C (p.Glu4136Gln)
c.12388G>C (p.Glu4130Gln)
c.12334G>C (p.Glu4112Gln)
c.12253G>C (p.Glu4085Gln)
c.12196G>C (p.Glu4066Gln)
c.10282G>C (p.Glu3428Gln)
c.9460G>C (p.Glu3154Gln)
n.12300G>C
c.12502G>C (p.Glu4168Gln)
c.12430G>C (p.Glu4144Gln)
c.12292G>C (p.Glu4098Gln)
c.10378G>C (p.Glu3460Gln)
 dbSNP gnomAD v4
16g.2090347C>TCA394324926PKD1c.12382G>A (p.Glu4128Lys)
c.12379G>A (p.Glu4127Lys)
n.410G>A
c.9337G>A (p.Glu3113Lys)
c.12460G>A (p.Glu4154Lys)
c.12457G>A (p.Glu4153Lys)
c.12442G>A (p.Glu4148Lys)
c.12436G>A (p.Glu4146Lys)
c.12433G>A (p.Glu4145Lys)
c.12406G>A (p.Glu4136Lys)
c.12388G>A (p.Glu4130Lys)
c.12334G>A (p.Glu4112Lys)
c.12253G>A (p.Glu4085Lys)
c.12196G>A (p.Glu4066Lys)
c.10282G>A (p.Glu3428Lys)
c.9460G>A (p.Glu3154Lys)
n.12300G>A
c.12502G>A (p.Glu4168Lys)
c.12430G>A (p.Glu4144Lys)
c.12292G>A (p.Glu4098Lys)
c.10378G>A (p.Glu3460Lys)
 ClinVar dbSNP
16g.2090348G>ACA7828667PKD1c.12381C>T (p.Tyr4127=)
c.12378C>T (p.Tyr4126=)
n.409C>T
c.9336C>T (p.Tyr3112=)
c.12459C>T (p.Tyr4153=)
c.12456C>T (p.Tyr4152=)
c.12441C>T (p.Tyr4147=)
c.12435C>T (p.Tyr4145=)
c.12432C>T (p.Tyr4144=)
c.12405C>T (p.Tyr4135=)
c.12387C>T (p.Tyr4129=)
c.12333C>T (p.Tyr4111=)
c.12252C>T (p.Tyr4084=)
c.12195C>T (p.Tyr4065=)
c.10281C>T (p.Tyr3427=)
c.9459C>T (p.Tyr3153=)
n.12299C>T
c.12501C>T (p.Tyr4167=)
c.12429C>T (p.Tyr4143=)
c.12291C>T (p.Tyr4097=)
c.10377C>T (p.Tyr3459=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090348G>CCA394324937PKD1c.12381C>G (p.Tyr4127Ter)
c.12378C>G (p.Tyr4126Ter)
n.409C>G
c.9336C>G (p.Tyr3112Ter)
c.12459C>G (p.Tyr4153Ter)
c.12456C>G (p.Tyr4152Ter)
c.12441C>G (p.Tyr4147Ter)
c.12435C>G (p.Tyr4145Ter)
c.12432C>G (p.Tyr4144Ter)
c.12405C>G (p.Tyr4135Ter)
c.12387C>G (p.Tyr4129Ter)
c.12333C>G (p.Tyr4111Ter)
c.12252C>G (p.Tyr4084Ter)
c.12195C>G (p.Tyr4065Ter)
c.10281C>G (p.Tyr3427Ter)
c.9459C>G (p.Tyr3153Ter)
n.12299C>G
c.12501C>G (p.Tyr4167Ter)
c.12429C>G (p.Tyr4143Ter)
c.12291C>G (p.Tyr4097Ter)
c.10377C>G (p.Tyr3459Ter)
 ClinVar dbSNP
16g.2090348G=CA2202041464PKD1c.12381C= (p.Tyr4127=)
c.12378C= (p.Tyr4126=)
n.409C=
c.9336C= (p.Tyr3112=)
c.12459C= (p.Tyr4153=)
c.12456C= (p.Tyr4152=)
c.12441C= (p.Tyr4147=)
c.12435C= (p.Tyr4145=)
c.12432C= (p.Tyr4144=)
c.12405C= (p.Tyr4135=)
c.12387C= (p.Tyr4129=)
c.12333C= (p.Tyr4111=)
c.12252C= (p.Tyr4084=)
c.12195C= (p.Tyr4065=)
c.10281C= (p.Tyr3427=)
c.9459C= (p.Tyr3153=)
n.12299C=
c.12501C= (p.Tyr4167=)
c.12429C= (p.Tyr4143=)
c.12291C= (p.Tyr4097=)
c.10377C= (p.Tyr3459=)
16g.2090348G>TCA394324939PKD1c.12381C>A (p.Tyr4127Ter)
c.12378C>A (p.Tyr4126Ter)
n.409C>A
c.9336C>A (p.Tyr3112Ter)
c.12459C>A (p.Tyr4153Ter)
c.12456C>A (p.Tyr4152Ter)
c.12441C>A (p.Tyr4147Ter)
c.12435C>A (p.Tyr4145Ter)
c.12432C>A (p.Tyr4144Ter)
c.12405C>A (p.Tyr4135Ter)
c.12387C>A (p.Tyr4129Ter)
c.12333C>A (p.Tyr4111Ter)
c.12252C>A (p.Tyr4084Ter)
c.12195C>A (p.Tyr4065Ter)
c.10281C>A (p.Tyr3427Ter)
c.9459C>A (p.Tyr3153Ter)
n.12299C>A
c.12501C>A (p.Tyr4167Ter)
c.12429C>A (p.Tyr4143Ter)
c.12291C>A (p.Tyr4097Ter)
c.10377C>A (p.Tyr3459Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2090349T>ACA394324945PKD1c.12380A>T (p.Tyr4127Phe)
c.12377A>T (p.Tyr4126Phe)
n.408A>T
c.9335A>T (p.Tyr3112Phe)
c.12458A>T (p.Tyr4153Phe)
c.12455A>T (p.Tyr4152Phe)
c.12440A>T (p.Tyr4147Phe)
c.12434A>T (p.Tyr4145Phe)
c.12431A>T (p.Tyr4144Phe)
c.12404A>T (p.Tyr4135Phe)
c.12386A>T (p.Tyr4129Phe)
c.12332A>T (p.Tyr4111Phe)
c.12251A>T (p.Tyr4084Phe)
c.12194A>T (p.Tyr4065Phe)
c.10280A>T (p.Tyr3427Phe)
c.9458A>T (p.Tyr3153Phe)
n.12298A>T
c.12500A>T (p.Tyr4167Phe)
c.12428A>T (p.Tyr4143Phe)
c.12290A>T (p.Tyr4097Phe)
c.10376A>T (p.Tyr3459Phe)
16g.2090349T>CCA276764000PKD1c.12380A>G (p.Tyr4127Cys)
c.12377A>G (p.Tyr4126Cys)
n.408A>G
c.9335A>G (p.Tyr3112Cys)
c.12458A>G (p.Tyr4153Cys)
c.12455A>G (p.Tyr4152Cys)
c.12440A>G (p.Tyr4147Cys)
c.12434A>G (p.Tyr4145Cys)
c.12431A>G (p.Tyr4144Cys)
c.12404A>G (p.Tyr4135Cys)
c.12386A>G (p.Tyr4129Cys)
c.12332A>G (p.Tyr4111Cys)
c.12251A>G (p.Tyr4084Cys)
c.12194A>G (p.Tyr4065Cys)
c.10280A>G (p.Tyr3427Cys)
c.9458A>G (p.Tyr3153Cys)
n.12298A>G
c.12500A>G (p.Tyr4167Cys)
c.12428A>G (p.Tyr4143Cys)
c.12290A>G (p.Tyr4097Cys)
c.10376A>G (p.Tyr3459Cys)
 dbSNP
16g.2090349T>GCA394324951PKD1c.12380A>C (p.Tyr4127Ser)
c.12377A>C (p.Tyr4126Ser)
n.408A>C
c.9335A>C (p.Tyr3112Ser)
c.12458A>C (p.Tyr4153Ser)
c.12455A>C (p.Tyr4152Ser)
c.12440A>C (p.Tyr4147Ser)
c.12434A>C (p.Tyr4145Ser)
c.12431A>C (p.Tyr4144Ser)
c.12404A>C (p.Tyr4135Ser)
c.12386A>C (p.Tyr4129Ser)
c.12332A>C (p.Tyr4111Ser)
c.12251A>C (p.Tyr4084Ser)
c.12194A>C (p.Tyr4065Ser)
c.10280A>C (p.Tyr3427Ser)
c.9458A>C (p.Tyr3153Ser)
n.12298A>C
c.12500A>C (p.Tyr4167Ser)
c.12428A>C (p.Tyr4143Ser)
c.12290A>C (p.Tyr4097Ser)
c.10376A>C (p.Tyr3459Ser)
16g.2090349T=CA2202041470PKD1c.12380A= (p.Tyr4127=)
c.12377A= (p.Tyr4126=)
n.408A=
c.9335A= (p.Tyr3112=)
c.12458A= (p.Tyr4153=)
c.12455A= (p.Tyr4152=)
c.12440A= (p.Tyr4147=)
c.12434A= (p.Tyr4145=)
c.12431A= (p.Tyr4144=)
c.12404A= (p.Tyr4135=)
c.12386A= (p.Tyr4129=)
c.12332A= (p.Tyr4111=)
c.12251A= (p.Tyr4084=)
c.12194A= (p.Tyr4065=)
c.10280A= (p.Tyr3427=)
c.9458A= (p.Tyr3153=)
n.12298A=
c.12500A= (p.Tyr4167=)
c.12428A= (p.Tyr4143=)
c.12290A= (p.Tyr4097=)
c.10376A= (p.Tyr3459=)
16g.2090349dupCA2695221507PKD1c.12380dup (p.Tyr4127Ter)
c.12377dup (p.Tyr4126Ter)
n.408dup
c.9335dup (p.Tyr3112Ter)
c.12458dup (p.Tyr4153Ter)
c.12455dup (p.Tyr4152Ter)
c.12440dup (p.Tyr4147Ter)
c.12434dup (p.Tyr4145Ter)
c.12431dup (p.Tyr4144Ter)
c.12404dup (p.Tyr4135Ter)
c.12386dup (p.Tyr4129Ter)
c.12332dup (p.Tyr4111Ter)
c.12251dup (p.Tyr4084Ter)
c.12194dup (p.Tyr4065Ter)
c.10280dup (p.Tyr3427Ter)
c.9458dup (p.Tyr3153Ter)
n.12298dup
c.12500dup (p.Tyr4167Ter)
c.12428dup (p.Tyr4143Ter)
c.12290dup (p.Tyr4097Ter)
c.10376dup (p.Tyr3459Ter)
16g.2090350A=CA2202041473PKD1c.12379T= (p.Tyr4127=)
c.12376T= (p.Tyr4126=)
n.407T=
c.9334T= (p.Tyr3112=)
c.12457T= (p.Tyr4153=)
c.12454T= (p.Tyr4152=)
c.12439T= (p.Tyr4147=)
c.12433T= (p.Tyr4145=)
c.12430T= (p.Tyr4144=)
c.12403T= (p.Tyr4135=)
c.12385T= (p.Tyr4129=)
c.12331T= (p.Tyr4111=)
c.12250T= (p.Tyr4084=)
c.12193T= (p.Tyr4065=)
c.10279T= (p.Tyr3427=)
c.9457T= (p.Tyr3153=)
n.12297T=
c.12499T= (p.Tyr4167=)
c.12427T= (p.Tyr4143=)
c.12289T= (p.Tyr4097=)
c.10375T= (p.Tyr3459=)
16g.2090350A>CCA7828668PKD1c.12379T>G (p.Tyr4127Asp)
c.12376T>G (p.Tyr4126Asp)
n.407T>G
c.9334T>G (p.Tyr3112Asp)
c.12457T>G (p.Tyr4153Asp)
c.12454T>G (p.Tyr4152Asp)
c.12439T>G (p.Tyr4147Asp)
c.12433T>G (p.Tyr4145Asp)
c.12430T>G (p.Tyr4144Asp)
c.12403T>G (p.Tyr4135Asp)
c.12385T>G (p.Tyr4129Asp)
c.12331T>G (p.Tyr4111Asp)
c.12250T>G (p.Tyr4084Asp)
c.12193T>G (p.Tyr4065Asp)
c.10279T>G (p.Tyr3427Asp)
c.9457T>G (p.Tyr3153Asp)
n.12297T>G
c.12499T>G (p.Tyr4167Asp)
c.12427T>G (p.Tyr4143Asp)
c.12289T>G (p.Tyr4097Asp)
c.10375T>G (p.Tyr3459Asp)
 dbSNP ExAC gnomAD v2
16g.2090350A>GCA394324956PKD1c.12379T>C (p.Tyr4127His)
c.12376T>C (p.Tyr4126His)
n.407T>C
c.9334T>C (p.Tyr3112His)
c.12457T>C (p.Tyr4153His)
c.12454T>C (p.Tyr4152His)
c.12439T>C (p.Tyr4147His)
c.12433T>C (p.Tyr4145His)
c.12430T>C (p.Tyr4144His)
c.12403T>C (p.Tyr4135His)
c.12385T>C (p.Tyr4129His)
c.12331T>C (p.Tyr4111His)
c.12250T>C (p.Tyr4084His)
c.12193T>C (p.Tyr4065His)
c.10279T>C (p.Tyr3427His)
c.9457T>C (p.Tyr3153His)
n.12297T>C
c.12499T>C (p.Tyr4167His)
c.12427T>C (p.Tyr4143His)
c.12289T>C (p.Tyr4097His)
c.10375T>C (p.Tyr3459His)
16g.2090350A>TCA394324960PKD1c.12379T>A (p.Tyr4127Asn)
c.12376T>A (p.Tyr4126Asn)
n.407T>A
c.9334T>A (p.Tyr3112Asn)
c.12457T>A (p.Tyr4153Asn)
c.12454T>A (p.Tyr4152Asn)
c.12439T>A (p.Tyr4147Asn)
c.12433T>A (p.Tyr4145Asn)
c.12430T>A (p.Tyr4144Asn)
c.12403T>A (p.Tyr4135Asn)
c.12385T>A (p.Tyr4129Asn)
c.12331T>A (p.Tyr4111Asn)
c.12250T>A (p.Tyr4084Asn)
c.12193T>A (p.Tyr4065Asn)
c.10279T>A (p.Tyr3427Asn)
c.9457T>A (p.Tyr3153Asn)
n.12297T>A
c.12499T>A (p.Tyr4167Asn)
c.12427T>A (p.Tyr4143Asn)
c.12289T>A (p.Tyr4097Asn)
c.10375T>A (p.Tyr3459Asn)
16g.2090351G>ACA493044239PKD1c.12378C>T (p.Asp4126=)
c.12375C>T (p.Asp4125=)
n.406C>T
c.9333C>T (p.Asp3111=)
c.12456C>T (p.Asp4152=)
c.12453C>T (p.Asp4151=)
c.12438C>T (p.Asp4146=)
c.12432C>T (p.Asp4144=)
c.12429C>T (p.Asp4143=)
c.12402C>T (p.Asp4134=)
c.12384C>T (p.Asp4128=)
c.12330C>T (p.Asp4110=)
c.12249C>T (p.Asp4083=)
c.12192C>T (p.Asp4064=)
c.10278C>T (p.Asp3426=)
c.9456C>T (p.Asp3152=)
n.12296C>T
c.12498C>T (p.Asp4166=)
c.12426C>T (p.Asp4142=)
c.12288C>T (p.Asp4096=)
c.10374C>T (p.Asp3458=)
 dbSNP gnomAD v4
16g.2090351G>CCA7828669PKD1c.12378C>G (p.Asp4126Glu)
c.12375C>G (p.Asp4125Glu)
n.406C>G
c.9333C>G (p.Asp3111Glu)
c.12456C>G (p.Asp4152Glu)
c.12453C>G (p.Asp4151Glu)
c.12438C>G (p.Asp4146Glu)
c.12432C>G (p.Asp4144Glu)
c.12429C>G (p.Asp4143Glu)
c.12402C>G (p.Asp4134Glu)
c.12384C>G (p.Asp4128Glu)
c.12330C>G (p.Asp4110Glu)
c.12249C>G (p.Asp4083Glu)
c.12192C>G (p.Asp4064Glu)
c.10278C>G (p.Asp3426Glu)
c.9456C>G (p.Asp3152Glu)
n.12296C>G
c.12498C>G (p.Asp4166Glu)
c.12426C>G (p.Asp4142Glu)
c.12288C>G (p.Asp4096Glu)
c.10374C>G (p.Asp3458Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090351G=CA2202041477PKD1c.12378C= (p.Asp4126=)
c.12375C= (p.Asp4125=)
n.406C=
c.9333C= (p.Asp3111=)
c.12456C= (p.Asp4152=)
c.12453C= (p.Asp4151=)
c.12438C= (p.Asp4146=)
c.12432C= (p.Asp4144=)
c.12429C= (p.Asp4143=)
c.12402C= (p.Asp4134=)
c.12384C= (p.Asp4128=)
c.12330C= (p.Asp4110=)
c.12249C= (p.Asp4083=)
c.12192C= (p.Asp4064=)
c.10278C= (p.Asp3426=)
c.9456C= (p.Asp3152=)
n.12296C=
c.12498C= (p.Asp4166=)
c.12426C= (p.Asp4142=)
c.12288C= (p.Asp4096=)
c.10374C= (p.Asp3458=)
16g.2090351G>TCA394324965PKD1c.12378C>A (p.Asp4126Glu)
c.12375C>A (p.Asp4125Glu)
n.406C>A
c.9333C>A (p.Asp3111Glu)
c.12456C>A (p.Asp4152Glu)
c.12453C>A (p.Asp4151Glu)
c.12438C>A (p.Asp4146Glu)
c.12432C>A (p.Asp4144Glu)
c.12429C>A (p.Asp4143Glu)
c.12402C>A (p.Asp4134Glu)
c.12384C>A (p.Asp4128Glu)
c.12330C>A (p.Asp4110Glu)
c.12249C>A (p.Asp4083Glu)
c.12192C>A (p.Asp4064Glu)
c.10278C>A (p.Asp3426Glu)
c.9456C>A (p.Asp3152Glu)
n.12296C>A
c.12498C>A (p.Asp4166Glu)
c.12426C>A (p.Asp4142Glu)
c.12288C>A (p.Asp4096Glu)
c.10374C>A (p.Asp3458Glu)
16g.2090352T>ACA394324976PKD1c.12377A>T (p.Asp4126Val)
c.12374A>T (p.Asp4125Val)
n.405A>T
c.9332A>T (p.Asp3111Val)
c.12455A>T (p.Asp4152Val)
c.12452A>T (p.Asp4151Val)
c.12437A>T (p.Asp4146Val)
c.12431A>T (p.Asp4144Val)
c.12428A>T (p.Asp4143Val)
c.12401A>T (p.Asp4134Val)
c.12383A>T (p.Asp4128Val)
c.12329A>T (p.Asp4110Val)
c.12248A>T (p.Asp4083Val)
c.12191A>T (p.Asp4064Val)
c.10277A>T (p.Asp3426Val)
c.9455A>T (p.Asp3152Val)
n.12295A>T
c.12497A>T (p.Asp4166Val)
c.12425A>T (p.Asp4142Val)
c.12287A>T (p.Asp4096Val)
c.10373A>T (p.Asp3458Val)
16g.2090352T>CCA394324973PKD1c.12377A>G (p.Asp4126Gly)
c.12374A>G (p.Asp4125Gly)
n.405A>G
c.9332A>G (p.Asp3111Gly)
c.12455A>G (p.Asp4152Gly)
c.12452A>G (p.Asp4151Gly)
c.12437A>G (p.Asp4146Gly)
c.12431A>G (p.Asp4144Gly)
c.12428A>G (p.Asp4143Gly)
c.12401A>G (p.Asp4134Gly)
c.12383A>G (p.Asp4128Gly)
c.12329A>G (p.Asp4110Gly)
c.12248A>G (p.Asp4083Gly)
c.12191A>G (p.Asp4064Gly)
c.10277A>G (p.Asp3426Gly)
c.9455A>G (p.Asp3152Gly)
n.12295A>G
c.12497A>G (p.Asp4166Gly)
c.12425A>G (p.Asp4142Gly)
c.12287A>G (p.Asp4096Gly)
c.10373A>G (p.Asp3458Gly)
16g.2090352T>GCA394324969PKD1c.12377A>C (p.Asp4126Ala)
c.12374A>C (p.Asp4125Ala)
n.405A>C
c.9332A>C (p.Asp3111Ala)
c.12455A>C (p.Asp4152Ala)
c.12452A>C (p.Asp4151Ala)
c.12437A>C (p.Asp4146Ala)
c.12431A>C (p.Asp4144Ala)
c.12428A>C (p.Asp4143Ala)
c.12401A>C (p.Asp4134Ala)
c.12383A>C (p.Asp4128Ala)
c.12329A>C (p.Asp4110Ala)
c.12248A>C (p.Asp4083Ala)
c.12191A>C (p.Asp4064Ala)
c.10277A>C (p.Asp3426Ala)
c.9455A>C (p.Asp3152Ala)
n.12295A>C
c.12497A>C (p.Asp4166Ala)
c.12425A>C (p.Asp4142Ala)
c.12287A>C (p.Asp4096Ala)
c.10373A>C (p.Asp3458Ala)
16g.2090353C>ACA394324980PKD1c.12376G>T (p.Asp4126Tyr)
c.12373G>T (p.Asp4125Tyr)
n.404G>T
c.9331G>T (p.Asp3111Tyr)
c.12454G>T (p.Asp4152Tyr)
c.12451G>T (p.Asp4151Tyr)
c.12436G>T (p.Asp4146Tyr)
c.12430G>T (p.Asp4144Tyr)
c.12427G>T (p.Asp4143Tyr)
c.12400G>T (p.Asp4134Tyr)
c.12382G>T (p.Asp4128Tyr)
c.12328G>T (p.Asp4110Tyr)
c.12247G>T (p.Asp4083Tyr)
c.12190G>T (p.Asp4064Tyr)
c.10276G>T (p.Asp3426Tyr)
c.9454G>T (p.Asp3152Tyr)
n.12294G>T
c.12496G>T (p.Asp4166Tyr)
c.12424G>T (p.Asp4142Tyr)
c.12286G>T (p.Asp4096Tyr)
c.10372G>T (p.Asp3458Tyr)
16g.2090353C=CA2202041479PKD1c.12376G= (p.Asp4126=)
c.12373G= (p.Asp4125=)
n.404G=
c.9331G= (p.Asp3111=)
c.12454G= (p.Asp4152=)
c.12451G= (p.Asp4151=)
c.12436G= (p.Asp4146=)
c.12430G= (p.Asp4144=)
c.12427G= (p.Asp4143=)
c.12400G= (p.Asp4134=)
c.12382G= (p.Asp4128=)
c.12328G= (p.Asp4110=)
c.12247G= (p.Asp4083=)
c.12190G= (p.Asp4064=)
c.10276G= (p.Asp3426=)
c.9454G= (p.Asp3152=)
n.12294G=
c.12496G= (p.Asp4166=)
c.12424G= (p.Asp4142=)
c.12286G= (p.Asp4096=)
c.10372G= (p.Asp3458=)
16g.2090353C>GCA394324988PKD1c.12376G>C (p.Asp4126His)
c.12373G>C (p.Asp4125His)
n.404G>C
c.9331G>C (p.Asp3111His)
c.12454G>C (p.Asp4152His)
c.12451G>C (p.Asp4151His)
c.12436G>C (p.Asp4146His)
c.12430G>C (p.Asp4144His)
c.12427G>C (p.Asp4143His)
c.12400G>C (p.Asp4134His)
c.12382G>C (p.Asp4128His)
c.12328G>C (p.Asp4110His)
c.12247G>C (p.Asp4083His)
c.12190G>C (p.Asp4064His)
c.10276G>C (p.Asp3426His)
c.9454G>C (p.Asp3152His)
n.12294G>C
c.12496G>C (p.Asp4166His)
c.12424G>C (p.Asp4142His)
c.12286G>C (p.Asp4096His)
c.10372G>C (p.Asp3458His)
16g.2090353C>TCA394324990PKD1c.12376G>A (p.Asp4126Asn)
c.12373G>A (p.Asp4125Asn)
n.404G>A
c.9331G>A (p.Asp3111Asn)
c.12454G>A (p.Asp4152Asn)
c.12451G>A (p.Asp4151Asn)
c.12436G>A (p.Asp4146Asn)
c.12430G>A (p.Asp4144Asn)
c.12427G>A (p.Asp4143Asn)
c.12400G>A (p.Asp4134Asn)
c.12382G>A (p.Asp4128Asn)
c.12328G>A (p.Asp4110Asn)
c.12247G>A (p.Asp4083Asn)
c.12190G>A (p.Asp4064Asn)
c.10276G>A (p.Asp3426Asn)
c.9454G>A (p.Asp3152Asn)
n.12294G>A
c.12496G>A (p.Asp4166Asn)
c.12424G>A (p.Asp4142Asn)
c.12286G>A (p.Asp4096Asn)
c.10372G>A (p.Asp3458Asn)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.2090354C>ACA394324994PKD1c.12375G>T (p.Gln4125His)
c.12372G>T (p.Gln4124His)
n.403G>T
c.9330G>T (p.Gln3110His)
c.12453G>T (p.Gln4151His)
c.12450G>T (p.Gln4150His)
c.12435G>T (p.Gln4145His)
c.12429G>T (p.Gln4143His)
c.12426G>T (p.Gln4142His)
c.12399G>T (p.Gln4133His)
c.12381G>T (p.Gln4127His)
c.12327G>T (p.Gln4109His)
c.12246G>T (p.Gln4082His)
c.12189G>T (p.Gln4063His)
c.10275G>T (p.Gln3425His)
c.9453G>T (p.Gln3151His)
n.12293G>T
c.12495G>T (p.Gln4165His)
c.12423G>T (p.Gln4141His)
c.12285G>T (p.Gln4095His)
c.10371G>T (p.Gln3457His)
16g.2090354C=CA2202041482PKD1c.12375G= (p.Gln4125=)
c.12372G= (p.Gln4124=)
n.403G=
c.9330G= (p.Gln3110=)
c.12453G= (p.Gln4151=)
c.12450G= (p.Gln4150=)
c.12435G= (p.Gln4145=)
c.12429G= (p.Gln4143=)
c.12426G= (p.Gln4142=)
c.12399G= (p.Gln4133=)
c.12381G= (p.Gln4127=)
c.12327G= (p.Gln4109=)
c.12246G= (p.Gln4082=)
c.12189G= (p.Gln4063=)
c.10275G= (p.Gln3425=)
c.9453G= (p.Gln3151=)
n.12293G=
c.12495G= (p.Gln4165=)
c.12423G= (p.Gln4141=)
c.12285G= (p.Gln4095=)
c.10371G= (p.Gln3457=)
16g.2090354C>GCA394324997PKD1c.12375G>C (p.Gln4125His)
c.12372G>C (p.Gln4124His)
n.403G>C
c.9330G>C (p.Gln3110His)
c.12453G>C (p.Gln4151His)
c.12450G>C (p.Gln4150His)
c.12435G>C (p.Gln4145His)
c.12429G>C (p.Gln4143His)
c.12426G>C (p.Gln4142His)
c.12399G>C (p.Gln4133His)
c.12381G>C (p.Gln4127His)
c.12327G>C (p.Gln4109His)
c.12246G>C (p.Gln4082His)
c.12189G>C (p.Gln4063His)
c.10275G>C (p.Gln3425His)
c.9453G>C (p.Gln3151His)
n.12293G>C
c.12495G>C (p.Gln4165His)
c.12423G>C (p.Gln4141His)
c.12285G>C (p.Gln4095His)
c.10371G>C (p.Gln3457His)
16g.2090354C>TCA7828670PKD1c.12375G>A (p.Gln4125=)
c.12372G>A (p.Gln4124=)
n.403G>A
c.9330G>A (p.Gln3110=)
c.12453G>A (p.Gln4151=)
c.12450G>A (p.Gln4150=)
c.12435G>A (p.Gln4145=)
c.12429G>A (p.Gln4143=)
c.12426G>A (p.Gln4142=)
c.12399G>A (p.Gln4133=)
c.12381G>A (p.Gln4127=)
c.12327G>A (p.Gln4109=)
c.12246G>A (p.Gln4082=)
c.12189G>A (p.Gln4063=)
c.10275G>A (p.Gln3425=)
c.9453G>A (p.Gln3151=)
n.12293G>A
c.12495G>A (p.Gln4165=)
c.12423G>A (p.Gln4141=)
c.12285G>A (p.Gln4095=)
c.10371G>A (p.Gln3457=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090355T>ACA394325007PKD1c.12374A>T (p.Gln4125Leu)
c.12371A>T (p.Gln4124Leu)
n.402A>T
c.9329A>T (p.Gln3110Leu)
c.12452A>T (p.Gln4151Leu)
c.12449A>T (p.Gln4150Leu)
c.12434A>T (p.Gln4145Leu)
c.12428A>T (p.Gln4143Leu)
c.12425A>T (p.Gln4142Leu)
c.12398A>T (p.Gln4133Leu)
c.12380A>T (p.Gln4127Leu)
c.12326A>T (p.Gln4109Leu)
c.12245A>T (p.Gln4082Leu)
c.12188A>T (p.Gln4063Leu)
c.10274A>T (p.Gln3425Leu)
c.9452A>T (p.Gln3151Leu)
n.12292A>T
c.12494A>T (p.Gln4165Leu)
c.12422A>T (p.Gln4141Leu)
c.12284A>T (p.Gln4095Leu)
c.10370A>T (p.Gln3457Leu)
 dbSNP gnomAD v4
16g.2090355T>CCA394325011PKD1c.12374A>G (p.Gln4125Arg)
c.12371A>G (p.Gln4124Arg)
n.402A>G
c.9329A>G (p.Gln3110Arg)
c.12452A>G (p.Gln4151Arg)
c.12449A>G (p.Gln4150Arg)
c.12434A>G (p.Gln4145Arg)
c.12428A>G (p.Gln4143Arg)
c.12425A>G (p.Gln4142Arg)
c.12398A>G (p.Gln4133Arg)
c.12380A>G (p.Gln4127Arg)
c.12326A>G (p.Gln4109Arg)
c.12245A>G (p.Gln4082Arg)
c.12188A>G (p.Gln4063Arg)
c.10274A>G (p.Gln3425Arg)
c.9452A>G (p.Gln3151Arg)
n.12292A>G
c.12494A>G (p.Gln4165Arg)
c.12422A>G (p.Gln4141Arg)
c.12284A>G (p.Gln4095Arg)
c.10370A>G (p.Gln3457Arg)
 gnomAD v4
16g.2090355T>GCA394325015PKD1c.12374A>C (p.Gln4125Pro)
c.12371A>C (p.Gln4124Pro)
n.402A>C
c.9329A>C (p.Gln3110Pro)
c.12452A>C (p.Gln4151Pro)
c.12449A>C (p.Gln4150Pro)
c.12434A>C (p.Gln4145Pro)
c.12428A>C (p.Gln4143Pro)
c.12425A>C (p.Gln4142Pro)
c.12398A>C (p.Gln4133Pro)
c.12380A>C (p.Gln4127Pro)
c.12326A>C (p.Gln4109Pro)
c.12245A>C (p.Gln4082Pro)
c.12188A>C (p.Gln4063Pro)
c.10274A>C (p.Gln3425Pro)
c.9452A>C (p.Gln3151Pro)
n.12292A>C
c.12494A>C (p.Gln4165Pro)
c.12422A>C (p.Gln4141Pro)
c.12284A>C (p.Gln4095Pro)
c.10370A>C (p.Gln3457Pro)
16g.2090355T=CA2202041484PKD1c.12374A= (p.Gln4125=)
c.12371A= (p.Gln4124=)
n.402A=
c.9329A= (p.Gln3110=)
c.12452A= (p.Gln4151=)
c.12449A= (p.Gln4150=)
c.12434A= (p.Gln4145=)
c.12428A= (p.Gln4143=)
c.12425A= (p.Gln4142=)
c.12398A= (p.Gln4133=)
c.12380A= (p.Gln4127=)
c.12326A= (p.Gln4109=)
c.12245A= (p.Gln4082=)
c.12188A= (p.Gln4063=)
c.10274A= (p.Gln3425=)
c.9452A= (p.Gln3151=)
n.12292A=
c.12494A= (p.Gln4165=)
c.12422A= (p.Gln4141=)
c.12284A= (p.Gln4095=)
c.10370A= (p.Gln3457=)
16g.2090356G>ACA394325017PKD1c.12373C>T (p.Gln4125Ter)
c.12370C>T (p.Gln4124Ter)
n.401C>T
c.9328C>T (p.Gln3110Ter)
c.12451C>T (p.Gln4151Ter)
c.12448C>T (p.Gln4150Ter)
c.12433C>T (p.Gln4145Ter)
c.12427C>T (p.Gln4143Ter)
c.12424C>T (p.Gln4142Ter)
c.12397C>T (p.Gln4133Ter)
c.12379C>T (p.Gln4127Ter)
c.12325C>T (p.Gln4109Ter)
c.12244C>T (p.Gln4082Ter)
c.12187C>T (p.Gln4063Ter)
c.10273C>T (p.Gln3425Ter)
c.9451C>T (p.Gln3151Ter)
n.12291C>T
c.12493C>T (p.Gln4165Ter)
c.12421C>T (p.Gln4141Ter)
c.12283C>T (p.Gln4095Ter)
c.10369C>T (p.Gln3457Ter)
 ClinVar dbSNP
16g.2090356G>CCA394325019PKD1c.12373C>G (p.Gln4125Glu)
c.12370C>G (p.Gln4124Glu)
n.401C>G
c.9328C>G (p.Gln3110Glu)
c.12451C>G (p.Gln4151Glu)
c.12448C>G (p.Gln4150Glu)
c.12433C>G (p.Gln4145Glu)
c.12427C>G (p.Gln4143Glu)
c.12424C>G (p.Gln4142Glu)
c.12397C>G (p.Gln4133Glu)
c.12379C>G (p.Gln4127Glu)
c.12325C>G (p.Gln4109Glu)
c.12244C>G (p.Gln4082Glu)
c.12187C>G (p.Gln4063Glu)
c.10273C>G (p.Gln3425Glu)
c.9451C>G (p.Gln3151Glu)
n.12291C>G
c.12493C>G (p.Gln4165Glu)
c.12421C>G (p.Gln4141Glu)
c.12283C>G (p.Gln4095Glu)
c.10369C>G (p.Gln3457Glu)
16g.2090356G=CA2202041489PKD1c.12373C= (p.Gln4125=)
c.12370C= (p.Gln4124=)
n.401C=
c.9328C= (p.Gln3110=)
c.12451C= (p.Gln4151=)
c.12448C= (p.Gln4150=)
c.12433C= (p.Gln4145=)
c.12427C= (p.Gln4143=)
c.12424C= (p.Gln4142=)
c.12397C= (p.Gln4133=)
c.12379C= (p.Gln4127=)
c.12325C= (p.Gln4109=)
c.12244C= (p.Gln4082=)
c.12187C= (p.Gln4063=)
c.10273C= (p.Gln3425=)
c.9451C= (p.Gln3151=)
n.12291C=
c.12493C= (p.Gln4165=)
c.12421C= (p.Gln4141=)
c.12283C= (p.Gln4095=)
c.10369C= (p.Gln3457=)
16g.2090356G>TCA394325022PKD1c.12373C>A (p.Gln4125Lys)
c.12370C>A (p.Gln4124Lys)
n.401C>A
c.9328C>A (p.Gln3110Lys)
c.12451C>A (p.Gln4151Lys)
c.12448C>A (p.Gln4150Lys)
c.12433C>A (p.Gln4145Lys)
c.12427C>A (p.Gln4143Lys)
c.12424C>A (p.Gln4142Lys)
c.12397C>A (p.Gln4133Lys)
c.12379C>A (p.Gln4127Lys)
c.12325C>A (p.Gln4109Lys)
c.12244C>A (p.Gln4082Lys)
c.12187C>A (p.Gln4063Lys)
c.10273C>A (p.Gln3425Lys)
c.9451C>A (p.Gln3151Lys)
n.12291C>A
c.12493C>A (p.Gln4165Lys)
c.12421C>A (p.Gln4141Lys)
c.12283C>A (p.Gln4095Lys)
c.10369C>A (p.Gln3457Lys)
16g.2090359delCA2695221509PKD1c.12373del (p.Gln4125ArgfsTer?)
c.12370del (p.Gln4124ArgfsTer?)
n.401del
c.9328del (p.Gln3110ArgfsTer?)
c.12451del (p.Gln4151ArgfsTer?)
c.12448del (p.Gln4150ArgfsTer?)
c.12433del (p.Gln4145ArgfsTer?)
c.12427del (p.Gln4143ArgfsTer?)
c.12424del (p.Gln4142ArgfsTer?)
c.12397del (p.Gln4133ArgfsTer?)
c.12379del (p.Gln4127ArgfsTer?)
c.12325del (p.Gln4109ArgfsTer?)
c.12244del (p.Gln4082ArgfsTer?)
c.12187del (p.Gln4063ArgfsTer?)
c.10273del (p.Gln3425ArgfsTer?)
c.9451del (p.Gln3151ArgfsTer?)
n.12291del
c.12493del (p.Gln4165ArgfsTer?)
c.12421del (p.Gln4141ArgfsTer?)
c.12283del (p.Gln4095ArgfsTer?)
c.10369del (p.Gln3457ArgfsTer?)
16g.2090357G>ACA493044255PKD1c.12372C>T (p.Pro4124=)
c.12369C>T (p.Pro4123=)
n.400C>T
c.9327C>T (p.Pro3109=)
c.12450C>T (p.Pro4150=)
c.12447C>T (p.Pro4149=)
c.12432C>T (p.Pro4144=)
c.12426C>T (p.Pro4142=)
c.12423C>T (p.Pro4141=)
c.12396C>T (p.Pro4132=)
c.12378C>T (p.Pro4126=)
c.12324C>T (p.Pro4108=)
c.12243C>T (p.Pro4081=)
c.12186C>T (p.Pro4062=)
c.10272C>T (p.Pro3424=)
c.9450C>T (p.Pro3150=)
n.12290C>T
c.12492C>T (p.Pro4164=)
c.12420C>T (p.Pro4140=)
c.12282C>T (p.Pro4094=)
c.10368C>T (p.Pro3456=)
 gnomAD v4
16g.2090357G>CCA493044254PKD1c.12372C>G (p.Pro4124=)
c.12369C>G (p.Pro4123=)
n.400C>G
c.9327C>G (p.Pro3109=)
c.12450C>G (p.Pro4150=)
c.12447C>G (p.Pro4149=)
c.12432C>G (p.Pro4144=)
c.12426C>G (p.Pro4142=)
c.12423C>G (p.Pro4141=)
c.12396C>G (p.Pro4132=)
c.12378C>G (p.Pro4126=)
c.12324C>G (p.Pro4108=)
c.12243C>G (p.Pro4081=)
c.12186C>G (p.Pro4062=)
c.10272C>G (p.Pro3424=)
c.9450C>G (p.Pro3150=)
n.12290C>G
c.12492C>G (p.Pro4164=)
c.12420C>G (p.Pro4140=)
c.12282C>G (p.Pro4094=)
c.10368C>G (p.Pro3456=)
 dbSNP gnomAD v2 gnomAD v4
16g.2090357G=CA2202041495PKD1c.12372C= (p.Pro4124=)
c.12369C= (p.Pro4123=)
n.400C=
c.9327C= (p.Pro3109=)
c.12450C= (p.Pro4150=)
c.12447C= (p.Pro4149=)
c.12432C= (p.Pro4144=)
c.12426C= (p.Pro4142=)
c.12423C= (p.Pro4141=)
c.12396C= (p.Pro4132=)
c.12378C= (p.Pro4126=)
c.12324C= (p.Pro4108=)
c.12243C= (p.Pro4081=)
c.12186C= (p.Pro4062=)
c.10272C= (p.Pro3424=)
c.9450C= (p.Pro3150=)
n.12290C=
c.12492C= (p.Pro4164=)
c.12420C= (p.Pro4140=)
c.12282C= (p.Pro4094=)
c.10368C= (p.Pro3456=)
16g.2090357G>TCA7828671PKD1c.12372C>A (p.Pro4124=)
c.12369C>A (p.Pro4123=)
n.400C>A
c.9327C>A (p.Pro3109=)
c.12450C>A (p.Pro4150=)
c.12447C>A (p.Pro4149=)
c.12432C>A (p.Pro4144=)
c.12426C>A (p.Pro4142=)
c.12423C>A (p.Pro4141=)
c.12396C>A (p.Pro4132=)
c.12378C>A (p.Pro4126=)
c.12324C>A (p.Pro4108=)
c.12243C>A (p.Pro4081=)
c.12186C>A (p.Pro4062=)
c.10272C>A (p.Pro3424=)
c.9450C>A (p.Pro3150=)
n.12290C>A
c.12492C>A (p.Pro4164=)
c.12420C>A (p.Pro4140=)
c.12282C>A (p.Pro4094=)
c.10368C>A (p.Pro3456=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090358G>ACA394325029PKD1c.12371C>T (p.Pro4124Leu)
c.12368C>T (p.Pro4123Leu)
n.399C>T
c.9326C>T (p.Pro3109Leu)
c.12449C>T (p.Pro4150Leu)
c.12446C>T (p.Pro4149Leu)
c.12431C>T (p.Pro4144Leu)
c.12425C>T (p.Pro4142Leu)
c.12422C>T (p.Pro4141Leu)
c.12395C>T (p.Pro4132Leu)
c.12377C>T (p.Pro4126Leu)
c.12323C>T (p.Pro4108Leu)
c.12242C>T (p.Pro4081Leu)
c.12185C>T (p.Pro4062Leu)
c.10271C>T (p.Pro3424Leu)
c.9449C>T (p.Pro3150Leu)
n.12289C>T
c.12491C>T (p.Pro4164Leu)
c.12419C>T (p.Pro4140Leu)
c.12281C>T (p.Pro4094Leu)
c.10367C>T (p.Pro3456Leu)
16g.2090358G>CCA394325034PKD1c.12371C>G (p.Pro4124Arg)
c.12368C>G (p.Pro4123Arg)
n.399C>G
c.9326C>G (p.Pro3109Arg)
c.12449C>G (p.Pro4150Arg)
c.12446C>G (p.Pro4149Arg)
c.12431C>G (p.Pro4144Arg)
c.12425C>G (p.Pro4142Arg)
c.12422C>G (p.Pro4141Arg)
c.12395C>G (p.Pro4132Arg)
c.12377C>G (p.Pro4126Arg)
c.12323C>G (p.Pro4108Arg)
c.12242C>G (p.Pro4081Arg)
c.12185C>G (p.Pro4062Arg)
c.10271C>G (p.Pro3424Arg)
c.9449C>G (p.Pro3150Arg)
n.12289C>G
c.12491C>G (p.Pro4164Arg)
c.12419C>G (p.Pro4140Arg)
c.12281C>G (p.Pro4094Arg)
c.10367C>G (p.Pro3456Arg)
16g.2090358G>TCA394325032PKD1c.12371C>A (p.Pro4124His)
c.12368C>A (p.Pro4123His)
n.399C>A
c.9326C>A (p.Pro3109His)
c.12449C>A (p.Pro4150His)
c.12446C>A (p.Pro4149His)
c.12431C>A (p.Pro4144His)
c.12425C>A (p.Pro4142His)
c.12422C>A (p.Pro4141His)
c.12395C>A (p.Pro4132His)
c.12377C>A (p.Pro4126His)
c.12323C>A (p.Pro4108His)
c.12242C>A (p.Pro4081His)
c.12185C>A (p.Pro4062His)
c.10271C>A (p.Pro3424His)
c.9449C>A (p.Pro3150His)
n.12289C>A
c.12491C>A (p.Pro4164His)
c.12419C>A (p.Pro4140His)
c.12281C>A (p.Pro4094His)
c.10367C>A (p.Pro3456His)
16g.2090359G>ACA394325038PKD1c.12370C>T (p.Pro4124Ser)
c.12367C>T (p.Pro4123Ser)
n.398C>T
c.9325C>T (p.Pro3109Ser)
c.12448C>T (p.Pro4150Ser)
c.12445C>T (p.Pro4149Ser)
c.12430C>T (p.Pro4144Ser)
c.12424C>T (p.Pro4142Ser)
c.12421C>T (p.Pro4141Ser)
c.12394C>T (p.Pro4132Ser)
c.12376C>T (p.Pro4126Ser)
c.12322C>T (p.Pro4108Ser)
c.12241C>T (p.Pro4081Ser)
c.12184C>T (p.Pro4062Ser)
c.10270C>T (p.Pro3424Ser)
c.9448C>T (p.Pro3150Ser)
n.12288C>T
c.12490C>T (p.Pro4164Ser)
c.12418C>T (p.Pro4140Ser)
c.12280C>T (p.Pro4094Ser)
c.10366C>T (p.Pro3456Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2090359G>CCA394325041PKD1c.12370C>G (p.Pro4124Ala)
c.12367C>G (p.Pro4123Ala)
n.398C>G
c.9325C>G (p.Pro3109Ala)
c.12448C>G (p.Pro4150Ala)
c.12445C>G (p.Pro4149Ala)
c.12430C>G (p.Pro4144Ala)
c.12424C>G (p.Pro4142Ala)
c.12421C>G (p.Pro4141Ala)
c.12394C>G (p.Pro4132Ala)
c.12376C>G (p.Pro4126Ala)
c.12322C>G (p.Pro4108Ala)
c.12241C>G (p.Pro4081Ala)
c.12184C>G (p.Pro4062Ala)
c.10270C>G (p.Pro3424Ala)
c.9448C>G (p.Pro3150Ala)
n.12288C>G
c.12490C>G (p.Pro4164Ala)
c.12418C>G (p.Pro4140Ala)
c.12280C>G (p.Pro4094Ala)
c.10366C>G (p.Pro3456Ala)
16g.2090359G=CA2202041503PKD1c.12370C= (p.Pro4124=)
c.12367C= (p.Pro4123=)
n.398C=
c.9325C= (p.Pro3109=)
c.12448C= (p.Pro4150=)
c.12445C= (p.Pro4149=)
c.12430C= (p.Pro4144=)
c.12424C= (p.Pro4142=)
c.12421C= (p.Pro4141=)
c.12394C= (p.Pro4132=)
c.12376C= (p.Pro4126=)
c.12322C= (p.Pro4108=)
c.12241C= (p.Pro4081=)
c.12184C= (p.Pro4062=)
c.10270C= (p.Pro3424=)
c.9448C= (p.Pro3150=)
n.12288C=
c.12490C= (p.Pro4164=)
c.12418C= (p.Pro4140=)
c.12280C= (p.Pro4094=)
c.10366C= (p.Pro3456=)
16g.2090359G>TCA394325044PKD1c.12370C>A (p.Pro4124Thr)
c.12367C>A (p.Pro4123Thr)
n.398C>A
c.9325C>A (p.Pro3109Thr)
c.12448C>A (p.Pro4150Thr)
c.12445C>A (p.Pro4149Thr)
c.12430C>A (p.Pro4144Thr)
c.12424C>A (p.Pro4142Thr)
c.12421C>A (p.Pro4141Thr)
c.12394C>A (p.Pro4132Thr)
c.12376C>A (p.Pro4126Thr)
c.12322C>A (p.Pro4108Thr)
c.12241C>A (p.Pro4081Thr)
c.12184C>A (p.Pro4062Thr)
c.10270C>A (p.Pro3424Thr)
c.9448C>A (p.Pro3150Thr)
n.12288C>A
c.12490C>A (p.Pro4164Thr)
c.12418C>A (p.Pro4140Thr)
c.12280C>A (p.Pro4094Thr)
c.10366C>A (p.Pro3456Thr)
 dbSNP
16g.2090360C>ACA7828672PKD1c.12369G>T (p.Glu4123Asp)
c.12366G>T (p.Glu4122Asp)
n.397G>T
c.9324G>T (p.Glu3108Asp)
c.12447G>T (p.Glu4149Asp)
c.12444G>T (p.Glu4148Asp)
c.12429G>T (p.Glu4143Asp)
c.12423G>T (p.Glu4141Asp)
c.12420G>T (p.Glu4140Asp)
c.12393G>T (p.Glu4131Asp)
c.12375G>T (p.Glu4125Asp)
c.12321G>T (p.Glu4107Asp)
c.12240G>T (p.Glu4080Asp)
c.12183G>T (p.Glu4061Asp)
c.10269G>T (p.Glu3423Asp)
c.9447G>T (p.Glu3149Asp)
n.12287G>T
c.12489G>T (p.Glu4163Asp)
c.12417G>T (p.Glu4139Asp)
c.12279G>T (p.Glu4093Asp)
c.10365G>T (p.Glu3455Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2090360C=CA2202041506PKD1c.12369G= (p.Glu4123=)
c.12366G= (p.Glu4122=)
n.397G=
c.9324G= (p.Glu3108=)
c.12447G= (p.Glu4149=)
c.12444G= (p.Glu4148=)
c.12429G= (p.Glu4143=)
c.12423G= (p.Glu4141=)
c.12420G= (p.Glu4140=)
c.12393G= (p.Glu4131=)
c.12375G= (p.Glu4125=)
c.12321G= (p.Glu4107=)
c.12240G= (p.Glu4080=)
c.12183G= (p.Glu4061=)
c.10269G= (p.Glu3423=)
c.9447G= (p.Glu3149=)
n.12287G=
c.12489G= (p.Glu4163=)
c.12417G= (p.Glu4139=)
c.12279G= (p.Glu4093=)
c.10365G= (p.Glu3455=)
16g.2090360C>GCA394325051PKD1c.12369G>C (p.Glu4123Asp)
c.12366G>C (p.Glu4122Asp)
n.397G>C
c.9324G>C (p.Glu3108Asp)
c.12447G>C (p.Glu4149Asp)
c.12444G>C (p.Glu4148Asp)
c.12429G>C (p.Glu4143Asp)
c.12423G>C (p.Glu4141Asp)
c.12420G>C (p.Glu4140Asp)
c.12393G>C (p.Glu4131Asp)
c.12375G>C (p.Glu4125Asp)
c.12321G>C (p.Glu4107Asp)
c.12240G>C (p.Glu4080Asp)
c.12183G>C (p.Glu4061Asp)
c.10269G>C (p.Glu3423Asp)
c.9447G>C (p.Glu3149Asp)
n.12287G>C
c.12489G>C (p.Glu4163Asp)
c.12417G>C (p.Glu4139Asp)
c.12279G>C (p.Glu4093Asp)
c.10365G>C (p.Glu3455Asp)
16g.2090360C>TCA493044264PKD1c.12369G>A (p.Glu4123=)
c.12366G>A (p.Glu4122=)
n.397G>A
c.9324G>A (p.Glu3108=)
c.12447G>A (p.Glu4149=)
c.12444G>A (p.Glu4148=)
c.12429G>A (p.Glu4143=)
c.12423G>A (p.Glu4141=)
c.12420G>A (p.Glu4140=)
c.12393G>A (p.Glu4131=)
c.12375G>A (p.Glu4125=)
c.12321G>A (p.Glu4107=)
c.12240G>A (p.Glu4080=)
c.12183G>A (p.Glu4061=)
c.10269G>A (p.Glu3423=)
c.9447G>A (p.Glu3149=)
n.12287G>A
c.12489G>A (p.Glu4163=)
c.12417G>A (p.Glu4139=)
c.12279G>A (p.Glu4093=)
c.10365G>A (p.Glu3455=)
 dbSNP gnomAD v3 gnomAD v4
16g.2090361T>ACA394325056PKD1c.12368A>T (p.Glu4123Val)
c.12365A>T (p.Glu4122Val)
n.396A>T
c.9323A>T (p.Glu3108Val)
c.12446A>T (p.Glu4149Val)
c.12443A>T (p.Glu4148Val)
c.12428A>T (p.Glu4143Val)
c.12422A>T (p.Glu4141Val)
c.12419A>T (p.Glu4140Val)
c.12392A>T (p.Glu4131Val)
c.12374A>T (p.Glu4125Val)
c.12320A>T (p.Glu4107Val)
c.12239A>T (p.Glu4080Val)
c.12182A>T (p.Glu4061Val)
c.10268A>T (p.Glu3423Val)
c.9446A>T (p.Glu3149Val)
n.12286A>T
c.12488A>T (p.Glu4163Val)
c.12416A>T (p.Glu4139Val)
c.12278A>T (p.Glu4093Val)
c.10364A>T (p.Glu3455Val)
16g.2090361T>CCA394325060PKD1c.12368A>G (p.Glu4123Gly)
c.12365A>G (p.Glu4122Gly)
n.396A>G
c.9323A>G (p.Glu3108Gly)
c.12446A>G (p.Glu4149Gly)
c.12443A>G (p.Glu4148Gly)
c.12428A>G (p.Glu4143Gly)
c.12422A>G (p.Glu4141Gly)
c.12419A>G (p.Glu4140Gly)
c.12392A>G (p.Glu4131Gly)
c.12374A>G (p.Glu4125Gly)
c.12320A>G (p.Glu4107Gly)
c.12239A>G (p.Glu4080Gly)
c.12182A>G (p.Glu4061Gly)
c.10268A>G (p.Glu3423Gly)
c.9446A>G (p.Glu3149Gly)
n.12286A>G
c.12488A>G (p.Glu4163Gly)
c.12416A>G (p.Glu4139Gly)
c.12278A>G (p.Glu4093Gly)
c.10364A>G (p.Glu3455Gly)
16g.2090361T>GCA394325063PKD1c.12368A>C (p.Glu4123Ala)
c.12365A>C (p.Glu4122Ala)
n.396A>C
c.9323A>C (p.Glu3108Ala)
c.12446A>C (p.Glu4149Ala)
c.12443A>C (p.Glu4148Ala)
c.12428A>C (p.Glu4143Ala)
c.12422A>C (p.Glu4141Ala)
c.12419A>C (p.Glu4140Ala)
c.12392A>C (p.Glu4131Ala)
c.12374A>C (p.Glu4125Ala)
c.12320A>C (p.Glu4107Ala)
c.12239A>C (p.Glu4080Ala)
c.12182A>C (p.Glu4061Ala)
c.10268A>C (p.Glu3423Ala)
c.9446A>C (p.Glu3149Ala)
n.12286A>C
c.12488A>C (p.Glu4163Ala)
c.12416A>C (p.Glu4139Ala)
c.12278A>C (p.Glu4093Ala)
c.10364A>C (p.Glu3455Ala)
16g.2090361dupCA2695221511PKD1c.12368dup (p.Pro4124AlafsTer?)
c.12365dup (p.Pro4123AlafsTer?)
n.396dup
c.9323dup (p.Pro3109AlafsTer?)
c.12446dup (p.Pro4150AlafsTer?)
c.12443dup (p.Pro4149AlafsTer?)
c.12428dup (p.Pro4144AlafsTer?)
c.12422dup (p.Pro4142AlafsTer?)
c.12419dup (p.Pro4141AlafsTer?)
c.12392dup (p.Pro4132AlafsTer?)
c.12374dup (p.Pro4126AlafsTer?)
c.12320dup (p.Pro4108AlafsTer?)
c.12239dup (p.Pro4081AlafsTer?)
c.12182dup (p.Pro4062AlafsTer?)
c.10268dup (p.Pro3424AlafsTer?)
c.9446dup (p.Pro3150AlafsTer?)
n.12286dup
c.12488dup (p.Pro4164AlafsTer?)
c.12416dup (p.Pro4140AlafsTer?)
c.12278dup (p.Pro4094AlafsTer?)
c.10364dup (p.Pro3456AlafsTer?)
16g.2090362C>ACA394325066PKD1c.12367G>T (p.Glu4123Ter)
c.12364G>T (p.Glu4122Ter)
n.395G>T
c.9322G>T (p.Glu3108Ter)
c.12445G>T (p.Glu4149Ter)
c.12442G>T (p.Glu4148Ter)
c.12427G>T (p.Glu4143Ter)
c.12421G>T (p.Glu4141Ter)
c.12418G>T (p.Glu4140Ter)
c.12391G>T (p.Glu4131Ter)
c.12373G>T (p.Glu4125Ter)
c.12319G>T (p.Glu4107Ter)
c.12238G>T (p.Glu4080Ter)
c.12181G>T (p.Glu4061Ter)
c.10267G>T (p.Glu3423Ter)
c.9445G>T (p.Glu3149Ter)
n.12285G>T
c.12487G>T (p.Glu4163Ter)
c.12415G>T (p.Glu4139Ter)
c.12277G>T (p.Glu4093Ter)
c.10363G>T (p.Glu3455Ter)
16g.2090362C=CA2202041509PKD1c.12367G= (p.Glu4123=)
c.12364G= (p.Glu4122=)
n.395G=
c.9322G= (p.Glu3108=)
c.12445G= (p.Glu4149=)
c.12442G= (p.Glu4148=)
c.12427G= (p.Glu4143=)
c.12421G= (p.Glu4141=)
c.12418G= (p.Glu4140=)
c.12391G= (p.Glu4131=)
c.12373G= (p.Glu4125=)
c.12319G= (p.Glu4107=)
c.12238G= (p.Glu4080=)
c.12181G= (p.Glu4061=)
c.10267G= (p.Glu3423=)
c.9445G= (p.Glu3149=)
n.12285G=
c.12487G= (p.Glu4163=)
c.12415G= (p.Glu4139=)
c.12277G= (p.Glu4093=)
c.10363G= (p.Glu3455=)
16g.2090362C>GCA394325068PKD1c.12367G>C (p.Glu4123Gln)
c.12364G>C (p.Glu4122Gln)
n.395G>C
c.9322G>C (p.Glu3108Gln)
c.12445G>C (p.Glu4149Gln)
c.12442G>C (p.Glu4148Gln)
c.12427G>C (p.Glu4143Gln)
c.12421G>C (p.Glu4141Gln)
c.12418G>C (p.Glu4140Gln)
c.12391G>C (p.Glu4131Gln)
c.12373G>C (p.Glu4125Gln)
c.12319G>C (p.Glu4107Gln)
c.12238G>C (p.Glu4080Gln)
c.12181G>C (p.Glu4061Gln)
c.10267G>C (p.Glu3423Gln)
c.9445G>C (p.Glu3149Gln)
n.12285G>C
c.12487G>C (p.Glu4163Gln)
c.12415G>C (p.Glu4139Gln)
c.12277G>C (p.Glu4093Gln)
c.10363G>C (p.Glu3455Gln)
16g.2090362C>TCA394325069PKD1c.12367G>A (p.Glu4123Lys)
c.12364G>A (p.Glu4122Lys)
n.395G>A
c.9322G>A (p.Glu3108Lys)
c.12445G>A (p.Glu4149Lys)
c.12442G>A (p.Glu4148Lys)
c.12427G>A (p.Glu4143Lys)
c.12421G>A (p.Glu4141Lys)
c.12418G>A (p.Glu4140Lys)
c.12391G>A (p.Glu4131Lys)
c.12373G>A (p.Glu4125Lys)
c.12319G>A (p.Glu4107Lys)
c.12238G>A (p.Glu4080Lys)
c.12181G>A (p.Glu4061Lys)
c.10267G>A (p.Glu3423Lys)
c.9445G>A (p.Glu3149Lys)
n.12285G>A
c.12487G>A (p.Glu4163Lys)
c.12415G>A (p.Glu4139Lys)
c.12277G>A (p.Glu4093Lys)
c.10363G>A (p.Glu3455Lys)
 dbSNP gnomAD v4
16g.2090364delCA2695221512PKD1c.12367del (p.Glu4123SerfsTer?)
c.12364del (p.Glu4122SerfsTer?)
n.395del
c.9322del (p.Glu3108SerfsTer?)
c.12445del (p.Glu4149SerfsTer?)
c.12442del (p.Glu4148SerfsTer?)
c.12427del (p.Glu4143SerfsTer?)
c.12421del (p.Glu4141SerfsTer?)
c.12418del (p.Glu4140SerfsTer?)
c.12391del (p.Glu4131SerfsTer?)
c.12373del (p.Glu4125SerfsTer?)
c.12319del (p.Glu4107SerfsTer?)
c.12238del (p.Glu4080SerfsTer?)
c.12181del (p.Glu4061SerfsTer?)
c.10267del (p.Glu3423SerfsTer?)
c.9445del (p.Glu3149SerfsTer?)
n.12285del
c.12487del (p.Glu4163SerfsTer?)
c.12415del (p.Glu4139SerfsTer?)
c.12277del (p.Glu4093SerfsTer?)
c.10363del (p.Glu3455SerfsTer?)
16g.2090363C>ACA394325077PKD1c.12366G>T (p.Trp4122Cys)
c.12363G>T (p.Trp4121Cys)
n.394G>T
c.9321G>T (p.Trp3107Cys)
c.12444G>T (p.Trp4148Cys)
c.12441G>T (p.Trp4147Cys)
c.12426G>T (p.Trp4142Cys)
c.12420G>T (p.Trp4140Cys)
c.12417G>T (p.Trp4139Cys)
c.12390G>T (p.Trp4130Cys)
c.12372G>T (p.Trp4124Cys)
c.12318G>T (p.Trp4106Cys)
c.12237G>T (p.Trp4079Cys)
c.12180G>T (p.Trp4060Cys)
c.10266G>T (p.Trp3422Cys)
c.9444G>T (p.Trp3148Cys)
n.12284G>T
c.12486G>T (p.Trp4162Cys)
c.12414G>T (p.Trp4138Cys)
c.12276G>T (p.Trp4092Cys)
c.10362G>T (p.Trp3454Cys)
16g.2090363C>GCA394325079PKD1c.12366G>C (p.Trp4122Cys)
c.12363G>C (p.Trp4121Cys)
n.394G>C
c.9321G>C (p.Trp3107Cys)
c.12444G>C (p.Trp4148Cys)
c.12441G>C (p.Trp4147Cys)
c.12426G>C (p.Trp4142Cys)
c.12420G>C (p.Trp4140Cys)
c.12417G>C (p.Trp4139Cys)
c.12390G>C (p.Trp4130Cys)
c.12372G>C (p.Trp4124Cys)
c.12318G>C (p.Trp4106Cys)
c.12237G>C (p.Trp4079Cys)
c.12180G>C (p.Trp4060Cys)
c.10266G>C (p.Trp3422Cys)
c.9444G>C (p.Trp3148Cys)
n.12284G>C
c.12486G>C (p.Trp4162Cys)
c.12414G>C (p.Trp4138Cys)
c.12276G>C (p.Trp4092Cys)
c.10362G>C (p.Trp3454Cys)
16g.2090363C>TCA394325076PKD1c.12366G>A (p.Trp4122Ter)
c.12363G>A (p.Trp4121Ter)
n.394G>A
c.9321G>A (p.Trp3107Ter)
c.12444G>A (p.Trp4148Ter)
c.12441G>A (p.Trp4147Ter)
c.12426G>A (p.Trp4142Ter)
c.12420G>A (p.Trp4140Ter)
c.12417G>A (p.Trp4139Ter)
c.12390G>A (p.Trp4130Ter)
c.12372G>A (p.Trp4124Ter)
c.12318G>A (p.Trp4106Ter)
c.12237G>A (p.Trp4079Ter)
c.12180G>A (p.Trp4060Ter)
c.10266G>A (p.Trp3422Ter)
c.9444G>A (p.Trp3148Ter)
n.12284G>A
c.12486G>A (p.Trp4162Ter)
c.12414G>A (p.Trp4138Ter)
c.12276G>A (p.Trp4092Ter)
c.10362G>A (p.Trp3454Ter)
16g.2090364C>ACA394325088PKD1c.12365G>T (p.Trp4122Leu)
c.12362G>T (p.Trp4121Leu)
n.393G>T
c.9320G>T (p.Trp3107Leu)
c.12443G>T (p.Trp4148Leu)
c.12440G>T (p.Trp4147Leu)
c.12425G>T (p.Trp4142Leu)
c.12419G>T (p.Trp4140Leu)
c.12416G>T (p.Trp4139Leu)
c.12389G>T (p.Trp4130Leu)
c.12371G>T (p.Trp4124Leu)
c.12317G>T (p.Trp4106Leu)
c.12236G>T (p.Trp4079Leu)
c.12179G>T (p.Trp4060Leu)
c.10265G>T (p.Trp3422Leu)
c.9443G>T (p.Trp3148Leu)
n.12283G>T
c.12485G>T (p.Trp4162Leu)
c.12413G>T (p.Trp4138Leu)
c.12275G>T (p.Trp4092Leu)
c.10361G>T (p.Trp3454Leu)
16g.2090364C=CA2202041516PKD1c.12365G= (p.Trp4122=)
c.12362G= (p.Trp4121=)
n.393G=
c.9320G= (p.Trp3107=)
c.12443G= (p.Trp4148=)
c.12440G= (p.Trp4147=)
c.12425G= (p.Trp4142=)
c.12419G= (p.Trp4140=)
c.12416G= (p.Trp4139=)
c.12389G= (p.Trp4130=)
c.12371G= (p.Trp4124=)
c.12317G= (p.Trp4106=)
c.12236G= (p.Trp4079=)
c.12179G= (p.Trp4060=)
c.10265G= (p.Trp3422=)
c.9443G= (p.Trp3148=)
n.12283G=
c.12485G= (p.Trp4162=)
c.12413G= (p.Trp4138=)
c.12275G= (p.Trp4092=)
c.10361G= (p.Trp3454=)
16g.2090364C>GCA394325082PKD1c.12365G>C (p.Trp4122Ser)
c.12362G>C (p.Trp4121Ser)
n.393G>C
c.9320G>C (p.Trp3107Ser)
c.12443G>C (p.Trp4148Ser)
c.12440G>C (p.Trp4147Ser)
c.12425G>C (p.Trp4142Ser)
c.12419G>C (p.Trp4140Ser)
c.12416G>C (p.Trp4139Ser)
c.12389G>C (p.Trp4130Ser)
c.12371G>C (p.Trp4124Ser)
c.12317G>C (p.Trp4106Ser)
c.12236G>C (p.Trp4079Ser)
c.12179G>C (p.Trp4060Ser)
c.10265G>C (p.Trp3422Ser)
c.9443G>C (p.Trp3148Ser)
n.12283G>C
c.12485G>C (p.Trp4162Ser)
c.12413G>C (p.Trp4138Ser)
c.12275G>C (p.Trp4092Ser)
c.10361G>C (p.Trp3454Ser)
16g.2090364C>TCA394325084PKD1c.12365G>A (p.Trp4122Ter)
c.12362G>A (p.Trp4121Ter)
n.393G>A
c.9320G>A (p.Trp3107Ter)
c.12443G>A (p.Trp4148Ter)
c.12440G>A (p.Trp4147Ter)
c.12425G>A (p.Trp4142Ter)
c.12419G>A (p.Trp4140Ter)
c.12416G>A (p.Trp4139Ter)
c.12389G>A (p.Trp4130Ter)
c.12371G>A (p.Trp4124Ter)
c.12317G>A (p.Trp4106Ter)
c.12236G>A (p.Trp4079Ter)
c.12179G>A (p.Trp4060Ter)
c.10265G>A (p.Trp3422Ter)
c.9443G>A (p.Trp3148Ter)
n.12283G>A
c.12485G>A (p.Trp4162Ter)
c.12413G>A (p.Trp4138Ter)
c.12275G>A (p.Trp4092Ter)
c.10361G>A (p.Trp3454Ter)
 ClinVar dbSNP
16g.2090365A>CCA394325092PKD1c.12364T>G (p.Trp4122Gly)
c.12361T>G (p.Trp4121Gly)
n.392T>G
c.9319T>G (p.Trp3107Gly)
c.12442T>G (p.Trp4148Gly)
c.12439T>G (p.Trp4147Gly)
c.12424T>G (p.Trp4142Gly)
c.12418T>G (p.Trp4140Gly)
c.12415T>G (p.Trp4139Gly)
c.12388T>G (p.Trp4130Gly)
c.12370T>G (p.Trp4124Gly)
c.12316T>G (p.Trp4106Gly)
c.12235T>G (p.Trp4079Gly)
c.12178T>G (p.Trp4060Gly)
c.10264T>G (p.Trp3422Gly)
c.9442T>G (p.Trp3148Gly)
n.12282T>G
c.12484T>G (p.Trp4162Gly)
c.12412T>G (p.Trp4138Gly)
c.12274T>G (p.Trp4092Gly)
c.10360T>G (p.Trp3454Gly)
16g.2090365A>GCA394325095PKD1c.12364T>C (p.Trp4122Arg)
c.12361T>C (p.Trp4121Arg)
n.392T>C
c.9319T>C (p.Trp3107Arg)
c.12442T>C (p.Trp4148Arg)
c.12439T>C (p.Trp4147Arg)
c.12424T>C (p.Trp4142Arg)
c.12418T>C (p.Trp4140Arg)
c.12415T>C (p.Trp4139Arg)
c.12388T>C (p.Trp4130Arg)
c.12370T>C (p.Trp4124Arg)
c.12316T>C (p.Trp4106Arg)
c.12235T>C (p.Trp4079Arg)
c.12178T>C (p.Trp4060Arg)
c.10264T>C (p.Trp3422Arg)
c.9442T>C (p.Trp3148Arg)
n.12282T>C
c.12484T>C (p.Trp4162Arg)
c.12412T>C (p.Trp4138Arg)
c.12274T>C (p.Trp4092Arg)
c.10360T>C (p.Trp3454Arg)
 gnomAD v4
16g.2090365A>TCA394325096PKD1c.12364T>A (p.Trp4122Arg)
c.12361T>A (p.Trp4121Arg)
n.392T>A
c.9319T>A (p.Trp3107Arg)
c.12442T>A (p.Trp4148Arg)
c.12439T>A (p.Trp4147Arg)
c.12424T>A (p.Trp4142Arg)
c.12418T>A (p.Trp4140Arg)
c.12415T>A (p.Trp4139Arg)
c.12388T>A (p.Trp4130Arg)
c.12370T>A (p.Trp4124Arg)
c.12316T>A (p.Trp4106Arg)
c.12235T>A (p.Trp4079Arg)
c.12178T>A (p.Trp4060Arg)
c.10264T>A (p.Trp3422Arg)
c.9442T>A (p.Trp3148Arg)
n.12282T>A
c.12484T>A (p.Trp4162Arg)
c.12412T>A (p.Trp4138Arg)
c.12274T>A (p.Trp4092Arg)
c.10360T>A (p.Trp3454Arg)
16g.2090366G>ACA493044273PKD1c.12363C>T (p.Ala4121=)
c.12360C>T (p.Ala4120=)
n.391C>T
c.9318C>T (p.Ala3106=)
c.12441C>T (p.Ala4147=)
c.12438C>T (p.Ala4146=)
c.12423C>T (p.Ala4141=)
c.12417C>T (p.Ala4139=)
c.12414C>T (p.Ala4138=)
c.12387C>T (p.Ala4129=)
c.12369C>T (p.Ala4123=)
c.12315C>T (p.Ala4105=)
c.12234C>T (p.Ala4078=)
c.12177C>T (p.Ala4059=)
c.10263C>T (p.Ala3421=)
c.9441C>T (p.Ala3147=)
n.12281C>T
c.12483C>T (p.Ala4161=)
c.12411C>T (p.Ala4137=)
c.12273C>T (p.Ala4091=)
c.10359C>T (p.Ala3453=)
 dbSNP gnomAD v4
16g.2090366G>CCA276764027PKD1c.12363C>G (p.Ala4121=)
c.12360C>G (p.Ala4120=)
n.391C>G
c.9318C>G (p.Ala3106=)
c.12441C>G (p.Ala4147=)
c.12438C>G (p.Ala4146=)
c.12423C>G (p.Ala4141=)
c.12417C>G (p.Ala4139=)
c.12414C>G (p.Ala4138=)
c.12387C>G (p.Ala4129=)
c.12369C>G (p.Ala4123=)
c.12315C>G (p.Ala4105=)
c.12234C>G (p.Ala4078=)
c.12177C>G (p.Ala4059=)
c.10263C>G (p.Ala3421=)
c.9441C>G (p.Ala3147=)
n.12281C>G
c.12483C>G (p.Ala4161=)
c.12411C>G (p.Ala4137=)
c.12273C>G (p.Ala4091=)
c.10359C>G (p.Ala3453=)
 dbSNP gnomAD v4
16g.2090366G=CA2202041521PKD1c.12363C= (p.Ala4121=)
c.12360C= (p.Ala4120=)
n.391C=
c.9318C= (p.Ala3106=)
c.12441C= (p.Ala4147=)
c.12438C= (p.Ala4146=)
c.12423C= (p.Ala4141=)
c.12417C= (p.Ala4139=)
c.12414C= (p.Ala4138=)
c.12387C= (p.Ala4129=)
c.12369C= (p.Ala4123=)
c.12315C= (p.Ala4105=)
c.12234C= (p.Ala4078=)
c.12177C= (p.Ala4059=)
c.10263C= (p.Ala3421=)
c.9441C= (p.Ala3147=)
n.12281C=
c.12483C= (p.Ala4161=)
c.12411C= (p.Ala4137=)
c.12273C= (p.Ala4091=)
c.10359C= (p.Ala3453=)
16g.2090366G>TCA493044274PKD1c.12363C>A (p.Ala4121=)
c.12360C>A (p.Ala4120=)
n.391C>A
c.9318C>A (p.Ala3106=)
c.12441C>A (p.Ala4147=)
c.12438C>A (p.Ala4146=)
c.12423C>A (p.Ala4141=)
c.12417C>A (p.Ala4139=)
c.12414C>A (p.Ala4138=)
c.12387C>A (p.Ala4129=)
c.12369C>A (p.Ala4123=)
c.12315C>A (p.Ala4105=)
c.12234C>A (p.Ala4078=)
c.12177C>A (p.Ala4059=)
c.10263C>A (p.Ala3421=)
c.9441C>A (p.Ala3147=)
n.12281C>A
c.12483C>A (p.Ala4161=)
c.12411C>A (p.Ala4137=)
c.12273C>A (p.Ala4091=)
c.10359C>A (p.Ala3453=)
16g.2090367G>ACA394325097PKD1c.12362C>T (p.Ala4121Val)
c.12359C>T (p.Ala4120Val)
n.390C>T
c.9317C>T (p.Ala3106Val)
c.12440C>T (p.Ala4147Val)
c.12437C>T (p.Ala4146Val)
c.12422C>T (p.Ala4141Val)
c.12416C>T (p.Ala4139Val)
c.12413C>T (p.Ala4138Val)
c.12386C>T (p.Ala4129Val)
c.12368C>T (p.Ala4123Val)
c.12314C>T (p.Ala4105Val)
c.12233C>T (p.Ala4078Val)
c.12176C>T (p.Ala4059Val)
c.10262C>T (p.Ala3421Val)
c.9440C>T (p.Ala3147Val)
n.12280C>T
c.12482C>T (p.Ala4161Val)
c.12410C>T (p.Ala4137Val)
c.12272C>T (p.Ala4091Val)
c.10358C>T (p.Ala3453Val)
 gnomAD v4
16g.2090367G>CCA394325098PKD1c.12362C>G (p.Ala4121Gly)
c.12359C>G (p.Ala4120Gly)
n.390C>G
c.9317C>G (p.Ala3106Gly)
c.12440C>G (p.Ala4147Gly)
c.12437C>G (p.Ala4146Gly)
c.12422C>G (p.Ala4141Gly)
c.12416C>G (p.Ala4139Gly)
c.12413C>G (p.Ala4138Gly)
c.12386C>G (p.Ala4129Gly)
c.12368C>G (p.Ala4123Gly)
c.12314C>G (p.Ala4105Gly)
c.12233C>G (p.Ala4078Gly)
c.12176C>G (p.Ala4059Gly)
c.10262C>G (p.Ala3421Gly)
c.9440C>G (p.Ala3147Gly)
n.12280C>G
c.12482C>G (p.Ala4161Gly)
c.12410C>G (p.Ala4137Gly)
c.12272C>G (p.Ala4091Gly)
c.10358C>G (p.Ala3453Gly)
16g.2090367G=CA2202041524PKD1c.12362C= (p.Ala4121=)
c.12359C= (p.Ala4120=)
n.390C=
c.9317C= (p.Ala3106=)
c.12440C= (p.Ala4147=)
c.12437C= (p.Ala4146=)
c.12422C= (p.Ala4141=)
c.12416C= (p.Ala4139=)
c.12413C= (p.Ala4138=)
c.12386C= (p.Ala4129=)
c.12368C= (p.Ala4123=)
c.12314C= (p.Ala4105=)
c.12233C= (p.Ala4078=)
c.12176C= (p.Ala4059=)
c.10262C= (p.Ala3421=)
c.9440C= (p.Ala3147=)
n.12280C=
c.12482C= (p.Ala4161=)
c.12410C= (p.Ala4137=)
c.12272C= (p.Ala4091=)
c.10358C= (p.Ala3453=)
16g.2090367G>TCA394325099PKD1c.12362C>A (p.Ala4121Asp)
c.12359C>A (p.Ala4120Asp)
n.390C>A
c.9317C>A (p.Ala3106Asp)
c.12440C>A (p.Ala4147Asp)
c.12437C>A (p.Ala4146Asp)
c.12422C>A (p.Ala4141Asp)
c.12416C>A (p.Ala4139Asp)
c.12413C>A (p.Ala4138Asp)
c.12386C>A (p.Ala4129Asp)
c.12368C>A (p.Ala4123Asp)
c.12314C>A (p.Ala4105Asp)
c.12233C>A (p.Ala4078Asp)
c.12176C>A (p.Ala4059Asp)
c.10262C>A (p.Ala3421Asp)
c.9440C>A (p.Ala3147Asp)
n.12280C>A
c.12482C>A (p.Ala4161Asp)
c.12410C>A (p.Ala4137Asp)
c.12272C>A (p.Ala4091Asp)
c.10358C>A (p.Ala3453Asp)
 dbSNP gnomAD v2 gnomAD v4
16g.2090368C>ACA394325100PKD1c.12361G>T (p.Ala4121Ser)
c.12358G>T (p.Ala4120Ser)
n.389G>T
c.9316G>T (p.Ala3106Ser)
c.12439G>T (p.Ala4147Ser)
c.12436G>T (p.Ala4146Ser)
c.12421G>T (p.Ala4141Ser)
c.12415G>T (p.Ala4139Ser)
c.12412G>T (p.Ala4138Ser)
c.12385G>T (p.Ala4129Ser)
c.12367G>T (p.Ala4123Ser)
c.12313G>T (p.Ala4105Ser)
c.12232G>T (p.Ala4078Ser)
c.12175G>T (p.Ala4059Ser)
c.10261G>T (p.Ala3421Ser)
c.9439G>T (p.Ala3147Ser)
n.12279G>T
c.12481G>T (p.Ala4161Ser)
c.12409G>T (p.Ala4137Ser)
c.12271G>T (p.Ala4091Ser)
c.10357G>T (p.Ala3453Ser)
 gnomAD v4
16g.2090368C=CA2202041525PKD1c.12361G= (p.Ala4121=)
c.12358G= (p.Ala4120=)
n.389G=
c.9316G= (p.Ala3106=)
c.12439G= (p.Ala4147=)
c.12436G= (p.Ala4146=)
c.12421G= (p.Ala4141=)
c.12415G= (p.Ala4139=)
c.12412G= (p.Ala4138=)
c.12385G= (p.Ala4129=)
c.12367G= (p.Ala4123=)
c.12313G= (p.Ala4105=)
c.12232G= (p.Ala4078=)
c.12175G= (p.Ala4059=)
c.10261G= (p.Ala3421=)
c.9439G= (p.Ala3147=)
n.12279G=
c.12481G= (p.Ala4161=)
c.12409G= (p.Ala4137=)
c.12271G= (p.Ala4091=)
c.10357G= (p.Ala3453=)
16g.2090368C>GCA394325102PKD1c.12361G>C (p.Ala4121Pro)
c.12358G>C (p.Ala4120Pro)
n.389G>C
c.9316G>C (p.Ala3106Pro)
c.12439G>C (p.Ala4147Pro)
c.12436G>C (p.Ala4146Pro)
c.12421G>C (p.Ala4141Pro)
c.12415G>C (p.Ala4139Pro)
c.12412G>C (p.Ala4138Pro)
c.12385G>C (p.Ala4129Pro)
c.12367G>C (p.Ala4123Pro)
c.12313G>C (p.Ala4105Pro)
c.12232G>C (p.Ala4078Pro)
c.12175G>C (p.Ala4059Pro)
c.10261G>C (p.Ala3421Pro)
c.9439G>C (p.Ala3147Pro)
n.12279G>C
c.12481G>C (p.Ala4161Pro)
c.12409G>C (p.Ala4137Pro)
c.12271G>C (p.Ala4091Pro)
c.10357G>C (p.Ala3453Pro)
16g.2090368C>TCA394325106PKD1c.12361G>A (p.Ala4121Thr)
c.12358G>A (p.Ala4120Thr)
n.389G>A
c.9316G>A (p.Ala3106Thr)
c.12439G>A (p.Ala4147Thr)
c.12436G>A (p.Ala4146Thr)
c.12421G>A (p.Ala4141Thr)
c.12415G>A (p.Ala4139Thr)
c.12412G>A (p.Ala4138Thr)
c.12385G>A (p.Ala4129Thr)
c.12367G>A (p.Ala4123Thr)
c.12313G>A (p.Ala4105Thr)
c.12232G>A (p.Ala4078Thr)
c.12175G>A (p.Ala4059Thr)
c.10261G>A (p.Ala3421Thr)
c.9439G>A (p.Ala3147Thr)
n.12279G>A
c.12481G>A (p.Ala4161Thr)
c.12409G>A (p.Ala4137Thr)
c.12271G>A (p.Ala4091Thr)
c.10357G>A (p.Ala3453Thr)
 dbSNP gnomAD v2 gnomAD v4
16g.2090369C>ACA493044280PKD1c.12360G>T (p.Pro4120=)
c.12357G>T (p.Pro4119=)
n.388G>T
c.9315G>T (p.Pro3105=)
c.12438G>T (p.Pro4146=)
c.12435G>T (p.Pro4145=)
c.12420G>T (p.Pro4140=)
c.12414G>T (p.Pro4138=)
c.12411G>T (p.Pro4137=)
c.12384G>T (p.Pro4128=)
c.12366G>T (p.Pro4122=)
c.12312G>T (p.Pro4104=)
c.12231G>T (p.Pro4077=)
c.12174G>T (p.Pro4058=)
c.10260G>T (p.Pro3420=)
c.9438G>T (p.Pro3146=)
n.12278G>T
c.12480G>T (p.Pro4160=)
c.12408G>T (p.Pro4136=)
c.12270G>T (p.Pro4090=)
c.10356G>T (p.Pro3452=)
 dbSNP
16g.2090369C=CA2202041529PKD1c.12360G= (p.Pro4120=)
c.12357G= (p.Pro4119=)
n.388G=
c.9315G= (p.Pro3105=)
c.12438G= (p.Pro4146=)
c.12435G= (p.Pro4145=)
c.12420G= (p.Pro4140=)
c.12414G= (p.Pro4138=)
c.12411G= (p.Pro4137=)
c.12384G= (p.Pro4128=)
c.12366G= (p.Pro4122=)
c.12312G= (p.Pro4104=)
c.12231G= (p.Pro4077=)
c.12174G= (p.Pro4058=)
c.10260G= (p.Pro3420=)
c.9438G= (p.Pro3146=)
n.12278G=
c.12480G= (p.Pro4160=)
c.12408G= (p.Pro4136=)
c.12270G= (p.Pro4090=)
c.10356G= (p.Pro3452=)
16g.2090369C>GCA493044282PKD1c.12360G>C (p.Pro4120=)
c.12357G>C (p.Pro4119=)
n.388G>C
c.9315G>C (p.Pro3105=)
c.12438G>C (p.Pro4146=)
c.12435G>C (p.Pro4145=)
c.12420G>C (p.Pro4140=)
c.12414G>C (p.Pro4138=)
c.12411G>C (p.Pro4137=)
c.12384G>C (p.Pro4128=)
c.12366G>C (p.Pro4122=)
c.12312G>C (p.Pro4104=)
c.12231G>C (p.Pro4077=)
c.12174G>C (p.Pro4058=)
c.10260G>C (p.Pro3420=)
c.9438G>C (p.Pro3146=)
n.12278G>C
c.12480G>C (p.Pro4160=)
c.12408G>C (p.Pro4136=)
c.12270G>C (p.Pro4090=)
c.10356G>C (p.Pro3452=)
 dbSNP
16g.2090369C>TCA493044281PKD1c.12360G>A (p.Pro4120=)
c.12357G>A (p.Pro4119=)
n.388G>A
c.9315G>A (p.Pro3105=)
c.12438G>A (p.Pro4146=)
c.12435G>A (p.Pro4145=)
c.12420G>A (p.Pro4140=)
c.12414G>A (p.Pro4138=)
c.12411G>A (p.Pro4137=)
c.12384G>A (p.Pro4128=)
c.12366G>A (p.Pro4122=)
c.12312G>A (p.Pro4104=)
c.12231G>A (p.Pro4077=)
c.12174G>A (p.Pro4058=)
c.10260G>A (p.Pro3420=)
c.9438G>A (p.Pro3146=)
n.12278G>A
c.12480G>A (p.Pro4160=)
c.12408G>A (p.Pro4136=)
c.12270G>A (p.Pro4090=)
c.10356G>A (p.Pro3452=)
 dbSNP gnomAD v2 gnomAD v4
16g.2090370G>ACA7828673PKD1c.12359C>T (p.Pro4120Leu)
c.12356C>T (p.Pro4119Leu)
n.387C>T
c.9314C>T (p.Pro3105Leu)
c.12437C>T (p.Pro4146Leu)
c.12434C>T (p.Pro4145Leu)
c.12419C>T (p.Pro4140Leu)
c.12413C>T (p.Pro4138Leu)
c.12410C>T (p.Pro4137Leu)
c.12383C>T (p.Pro4128Leu)
c.12365C>T (p.Pro4122Leu)
c.12311C>T (p.Pro4104Leu)
c.12230C>T (p.Pro4077Leu)
c.12173C>T (p.Pro4058Leu)
c.10259C>T (p.Pro3420Leu)
c.9437C>T (p.Pro3146Leu)
n.12277C>T
c.12479C>T (p.Pro4160Leu)
c.12407C>T (p.Pro4136Leu)
c.12269C>T (p.Pro4090Leu)
c.10355C>T (p.Pro3452Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090370G>CCA394325110PKD1c.12359C>G (p.Pro4120Arg)
c.12356C>G (p.Pro4119Arg)
n.387C>G
c.9314C>G (p.Pro3105Arg)
c.12437C>G (p.Pro4146Arg)
c.12434C>G (p.Pro4145Arg)
c.12419C>G (p.Pro4140Arg)
c.12413C>G (p.Pro4138Arg)
c.12410C>G (p.Pro4137Arg)
c.12383C>G (p.Pro4128Arg)
c.12365C>G (p.Pro4122Arg)
c.12311C>G (p.Pro4104Arg)
c.12230C>G (p.Pro4077Arg)
c.12173C>G (p.Pro4058Arg)
c.10259C>G (p.Pro3420Arg)
c.9437C>G (p.Pro3146Arg)
n.12277C>G
c.12479C>G (p.Pro4160Arg)
c.12407C>G (p.Pro4136Arg)
c.12269C>G (p.Pro4090Arg)
c.10355C>G (p.Pro3452Arg)
16g.2090370G=CA2202041534PKD1c.12359C= (p.Pro4120=)
c.12356C= (p.Pro4119=)
n.387C=
c.9314C= (p.Pro3105=)
c.12437C= (p.Pro4146=)
c.12434C= (p.Pro4145=)
c.12419C= (p.Pro4140=)
c.12413C= (p.Pro4138=)
c.12410C= (p.Pro4137=)
c.12383C= (p.Pro4128=)
c.12365C= (p.Pro4122=)
c.12311C= (p.Pro4104=)
c.12230C= (p.Pro4077=)
c.12173C= (p.Pro4058=)
c.10259C= (p.Pro3420=)
c.9437C= (p.Pro3146=)
n.12277C=
c.12479C= (p.Pro4160=)
c.12407C= (p.Pro4136=)
c.12269C= (p.Pro4090=)
c.10355C= (p.Pro3452=)
16g.2090370G>TCA394325109PKD1c.12359C>A (p.Pro4120Gln)
c.12356C>A (p.Pro4119Gln)
n.387C>A
c.9314C>A (p.Pro3105Gln)
c.12437C>A (p.Pro4146Gln)
c.12434C>A (p.Pro4145Gln)
c.12419C>A (p.Pro4140Gln)
c.12413C>A (p.Pro4138Gln)
c.12410C>A (p.Pro4137Gln)
c.12383C>A (p.Pro4128Gln)
c.12365C>A (p.Pro4122Gln)
c.12311C>A (p.Pro4104Gln)
c.12230C>A (p.Pro4077Gln)
c.12173C>A (p.Pro4058Gln)
c.10259C>A (p.Pro3420Gln)
c.9437C>A (p.Pro3146Gln)
n.12277C>A
c.12479C>A (p.Pro4160Gln)
c.12407C>A (p.Pro4136Gln)
c.12269C>A (p.Pro4090Gln)
c.10355C>A (p.Pro3452Gln)
16g.2090371G>ACA394325113PKD1c.12358C>T (p.Pro4120Ser)
c.12355C>T (p.Pro4119Ser)
n.386C>T
c.9313C>T (p.Pro3105Ser)
c.12436C>T (p.Pro4146Ser)
c.12433C>T (p.Pro4145Ser)
c.12418C>T (p.Pro4140Ser)
c.12412C>T (p.Pro4138Ser)
c.12409C>T (p.Pro4137Ser)
c.12382C>T (p.Pro4128Ser)
c.12364C>T (p.Pro4122Ser)
c.12310C>T (p.Pro4104Ser)
c.12229C>T (p.Pro4077Ser)
c.12172C>T (p.Pro4058Ser)
c.10258C>T (p.Pro3420Ser)
c.9436C>T (p.Pro3146Ser)
n.12276C>T
c.12478C>T (p.Pro4160Ser)
c.12406C>T (p.Pro4136Ser)
c.12268C>T (p.Pro4090Ser)
c.10354C>T (p.Pro3452Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2090371G>CCA394325116PKD1c.12358C>G (p.Pro4120Ala)
c.12355C>G (p.Pro4119Ala)
n.386C>G
c.9313C>G (p.Pro3105Ala)
c.12436C>G (p.Pro4146Ala)
c.12433C>G (p.Pro4145Ala)
c.12418C>G (p.Pro4140Ala)
c.12412C>G (p.Pro4138Ala)
c.12409C>G (p.Pro4137Ala)
c.12382C>G (p.Pro4128Ala)
c.12364C>G (p.Pro4122Ala)
c.12310C>G (p.Pro4104Ala)
c.12229C>G (p.Pro4077Ala)
c.12172C>G (p.Pro4058Ala)
c.10258C>G (p.Pro3420Ala)
c.9436C>G (p.Pro3146Ala)
n.12276C>G
c.12478C>G (p.Pro4160Ala)
c.12406C>G (p.Pro4136Ala)
c.12268C>G (p.Pro4090Ala)
c.10354C>G (p.Pro3452Ala)
16g.2090371G=CA2202041539PKD1c.12358C= (p.Pro4120=)
c.12355C= (p.Pro4119=)
n.386C=
c.9313C= (p.Pro3105=)
c.12436C= (p.Pro4146=)
c.12433C= (p.Pro4145=)
c.12418C= (p.Pro4140=)
c.12412C= (p.Pro4138=)
c.12409C= (p.Pro4137=)
c.12382C= (p.Pro4128=)
c.12364C= (p.Pro4122=)
c.12310C= (p.Pro4104=)
c.12229C= (p.Pro4077=)
c.12172C= (p.Pro4058=)
c.10258C= (p.Pro3420=)
c.9436C= (p.Pro3146=)
n.12276C=
c.12478C= (p.Pro4160=)
c.12406C= (p.Pro4136=)
c.12268C= (p.Pro4090=)
c.10354C= (p.Pro3452=)
16g.2090371G>TCA394325118PKD1c.12358C>A (p.Pro4120Thr)
c.12355C>A (p.Pro4119Thr)
n.386C>A
c.9313C>A (p.Pro3105Thr)
c.12436C>A (p.Pro4146Thr)
c.12433C>A (p.Pro4145Thr)
c.12418C>A (p.Pro4140Thr)
c.12412C>A (p.Pro4138Thr)
c.12409C>A (p.Pro4137Thr)
c.12382C>A (p.Pro4128Thr)
c.12364C>A (p.Pro4122Thr)
c.12310C>A (p.Pro4104Thr)
c.12229C>A (p.Pro4077Thr)
c.12172C>A (p.Pro4058Thr)
c.10258C>A (p.Pro3420Thr)
c.9436C>A (p.Pro3146Thr)
n.12276C>A
c.12478C>A (p.Pro4160Thr)
c.12406C>A (p.Pro4136Thr)
c.12268C>A (p.Pro4090Thr)
c.10354C>A (p.Pro3452Thr)
16g.2090372C>ACA493044290PKD1c.12357G>T (p.Arg4119=)
c.12354G>T (p.Arg4118=)
n.385G>T
c.9312G>T (p.Arg3104=)
c.12435G>T (p.Arg4145=)
c.12432G>T (p.Arg4144=)
c.12417G>T (p.Arg4139=)
c.12411G>T (p.Arg4137=)
c.12408G>T (p.Arg4136=)
c.12381G>T (p.Arg4127=)
c.12363G>T (p.Arg4121=)
c.12309G>T (p.Arg4103=)
c.12228G>T (p.Arg4076=)
c.12171G>T (p.Arg4057=)
c.10257G>T (p.Arg3419=)
c.9435G>T (p.Arg3145=)
n.12275G>T
c.12477G>T (p.Arg4159=)
c.12405G>T (p.Arg4135=)
c.12267G>T (p.Arg4089=)
c.10353G>T (p.Arg3451=)
16g.2090372C>GCA493044291PKD1c.12357G>C (p.Arg4119=)
c.12354G>C (p.Arg4118=)
n.385G>C
c.9312G>C (p.Arg3104=)
c.12435G>C (p.Arg4145=)
c.12432G>C (p.Arg4144=)
c.12417G>C (p.Arg4139=)
c.12411G>C (p.Arg4137=)
c.12408G>C (p.Arg4136=)
c.12381G>C (p.Arg4127=)
c.12363G>C (p.Arg4121=)
c.12309G>C (p.Arg4103=)
c.12228G>C (p.Arg4076=)
c.12171G>C (p.Arg4057=)
c.10257G>C (p.Arg3419=)
c.9435G>C (p.Arg3145=)
n.12275G>C
c.12477G>C (p.Arg4159=)
c.12405G>C (p.Arg4135=)
c.12267G>C (p.Arg4089=)
c.10353G>C (p.Arg3451=)
16g.2090372C>TCA493044293PKD1c.12357G>A (p.Arg4119=)
c.12354G>A (p.Arg4118=)
n.385G>A
c.9312G>A (p.Arg3104=)
c.12435G>A (p.Arg4145=)
c.12432G>A (p.Arg4144=)
c.12417G>A (p.Arg4139=)
c.12411G>A (p.Arg4137=)
c.12408G>A (p.Arg4136=)
c.12381G>A (p.Arg4127=)
c.12363G>A (p.Arg4121=)
c.12309G>A (p.Arg4103=)
c.12228G>A (p.Arg4076=)
c.12171G>A (p.Arg4057=)
c.10257G>A (p.Arg3419=)
c.9435G>A (p.Arg3145=)
n.12275G>A
c.12477G>A (p.Arg4159=)
c.12405G>A (p.Arg4135=)
c.12267G>A (p.Arg4089=)
c.10353G>A (p.Arg3451=)
 gnomAD v4
16g.2090373C>ACA394325122PKD1c.12356G>T (p.Arg4119Leu)
c.12353G>T (p.Arg4118Leu)
n.384G>T
c.9311G>T (p.Arg3104Leu)
c.12434G>T (p.Arg4145Leu)
c.12431G>T (p.Arg4144Leu)
c.12416G>T (p.Arg4139Leu)
c.12410G>T (p.Arg4137Leu)
c.12407G>T (p.Arg4136Leu)
c.12380G>T (p.Arg4127Leu)
c.12362G>T (p.Arg4121Leu)
c.12308G>T (p.Arg4103Leu)
c.12227G>T (p.Arg4076Leu)
c.12170G>T (p.Arg4057Leu)
c.10256G>T (p.Arg3419Leu)
c.9434G>T (p.Arg3145Leu)
n.12274G>T
c.12476G>T (p.Arg4159Leu)
c.12404G>T (p.Arg4135Leu)
c.12266G>T (p.Arg4089Leu)
c.10352G>T (p.Arg3451Leu)
16g.2090373C=CA2202041543PKD1c.12356G= (p.Arg4119=)
c.12353G= (p.Arg4118=)
n.384G=
c.9311G= (p.Arg3104=)
c.12434G= (p.Arg4145=)
c.12431G= (p.Arg4144=)
c.12416G= (p.Arg4139=)
c.12410G= (p.Arg4137=)
c.12407G= (p.Arg4136=)
c.12380G= (p.Arg4127=)
c.12362G= (p.Arg4121=)
c.12308G= (p.Arg4103=)
c.12227G= (p.Arg4076=)
c.12170G= (p.Arg4057=)
c.10256G= (p.Arg3419=)
c.9434G= (p.Arg3145=)
n.12274G=
c.12476G= (p.Arg4159=)
c.12404G= (p.Arg4135=)
c.12266G= (p.Arg4089=)
c.10352G= (p.Arg3451=)
16g.2090373C>GCA394325126PKD1c.12356G>C (p.Arg4119Pro)
c.12353G>C (p.Arg4118Pro)
n.384G>C
c.9311G>C (p.Arg3104Pro)
c.12434G>C (p.Arg4145Pro)
c.12431G>C (p.Arg4144Pro)
c.12416G>C (p.Arg4139Pro)
c.12410G>C (p.Arg4137Pro)
c.12407G>C (p.Arg4136Pro)
c.12380G>C (p.Arg4127Pro)
c.12362G>C (p.Arg4121Pro)
c.12308G>C (p.Arg4103Pro)
c.12227G>C (p.Arg4076Pro)
c.12170G>C (p.Arg4057Pro)
c.10256G>C (p.Arg3419Pro)
c.9434G>C (p.Arg3145Pro)
n.12274G>C
c.12476G>C (p.Arg4159Pro)
c.12404G>C (p.Arg4135Pro)
c.12266G>C (p.Arg4089Pro)
c.10352G>C (p.Arg3451Pro)
16g.2090373C>TCA276764030PKD1c.12356G>A (p.Arg4119Gln)
c.12353G>A (p.Arg4118Gln)
n.384G>A
c.9311G>A (p.Arg3104Gln)
c.12434G>A (p.Arg4145Gln)
c.12431G>A (p.Arg4144Gln)
c.12416G>A (p.Arg4139Gln)
c.12410G>A (p.Arg4137Gln)
c.12407G>A (p.Arg4136Gln)
c.12380G>A (p.Arg4127Gln)
c.12362G>A (p.Arg4121Gln)
c.12308G>A (p.Arg4103Gln)
c.12227G>A (p.Arg4076Gln)
c.12170G>A (p.Arg4057Gln)
c.10256G>A (p.Arg3419Gln)
c.9434G>A (p.Arg3145Gln)
n.12274G>A
c.12476G>A (p.Arg4159Gln)
c.12404G>A (p.Arg4135Gln)
c.12266G>A (p.Arg4089Gln)
c.10352G>A (p.Arg3451Gln)
 dbSNP gnomAD v3 gnomAD v4
16g.2090374G>ACA276764031PKD1c.12355C>T (p.Arg4119Trp)
c.12352C>T (p.Arg4118Trp)
n.383C>T
c.9310C>T (p.Arg3104Trp)
c.12433C>T (p.Arg4145Trp)
c.12430C>T (p.Arg4144Trp)
c.12415C>T (p.Arg4139Trp)
c.12409C>T (p.Arg4137Trp)
c.12406C>T (p.Arg4136Trp)
c.12379C>T (p.Arg4127Trp)
c.12361C>T (p.Arg4121Trp)
c.12307C>T (p.Arg4103Trp)
c.12226C>T (p.Arg4076Trp)
c.12169C>T (p.Arg4057Trp)
c.10255C>T (p.Arg3419Trp)
c.9433C>T (p.Arg3145Trp)
n.12273C>T
c.12475C>T (p.Arg4159Trp)
c.12403C>T (p.Arg4135Trp)
c.12265C>T (p.Arg4089Trp)
c.10351C>T (p.Arg3451Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2090374G>CCA394325144PKD1c.12355C>G (p.Arg4119Gly)
c.12352C>G (p.Arg4118Gly)
n.383C>G
c.9310C>G (p.Arg3104Gly)
c.12433C>G (p.Arg4145Gly)
c.12430C>G (p.Arg4144Gly)
c.12415C>G (p.Arg4139Gly)
c.12409C>G (p.Arg4137Gly)
c.12406C>G (p.Arg4136Gly)
c.12379C>G (p.Arg4127Gly)
c.12361C>G (p.Arg4121Gly)
c.12307C>G (p.Arg4103Gly)
c.12226C>G (p.Arg4076Gly)
c.12169C>G (p.Arg4057Gly)
c.10255C>G (p.Arg3419Gly)
c.9433C>G (p.Arg3145Gly)
n.12273C>G
c.12475C>G (p.Arg4159Gly)
c.12403C>G (p.Arg4135Gly)
c.12265C>G (p.Arg4089Gly)
c.10351C>G (p.Arg3451Gly)
16g.2090374G=CA2202041549PKD1c.12355C= (p.Arg4119=)
c.12352C= (p.Arg4118=)
n.383C=
c.9310C= (p.Arg3104=)
c.12433C= (p.Arg4145=)
c.12430C= (p.Arg4144=)
c.12415C= (p.Arg4139=)
c.12409C= (p.Arg4137=)
c.12406C= (p.Arg4136=)
c.12379C= (p.Arg4127=)
c.12361C= (p.Arg4121=)
c.12307C= (p.Arg4103=)
c.12226C= (p.Arg4076=)
c.12169C= (p.Arg4057=)
c.10255C= (p.Arg3419=)
c.9433C= (p.Arg3145=)
n.12273C=
c.12475C= (p.Arg4159=)
c.12403C= (p.Arg4135=)
c.12265C= (p.Arg4089=)
c.10351C= (p.Arg3451=)
16g.2090374G>TCA493044300PKD1c.12355C>A (p.Arg4119=)
c.12352C>A (p.Arg4118=)
n.383C>A
c.9310C>A (p.Arg3104=)
c.12433C>A (p.Arg4145=)
c.12430C>A (p.Arg4144=)
c.12415C>A (p.Arg4139=)
c.12409C>A (p.Arg4137=)
c.12406C>A (p.Arg4136=)
c.12379C>A (p.Arg4127=)
c.12361C>A (p.Arg4121=)
c.12307C>A (p.Arg4103=)
c.12226C>A (p.Arg4076=)
c.12169C>A (p.Arg4057=)
c.10255C>A (p.Arg3419=)
c.9433C>A (p.Arg3145=)
n.12273C>A
c.12475C>A (p.Arg4159=)
c.12403C>A (p.Arg4135=)
c.12265C>A (p.Arg4089=)
c.10351C>A (p.Arg3451=)
16g.2090375G>ACA493044301PKD1c.12354C>T (p.Tyr4118=)
c.12351C>T (p.Tyr4117=)
n.382C>T
c.9309C>T (p.Tyr3103=)
c.12432C>T (p.Tyr4144=)
c.12429C>T (p.Tyr4143=)
c.12414C>T (p.Tyr4138=)
c.12408C>T (p.Tyr4136=)
c.12405C>T (p.Tyr4135=)
c.12378C>T (p.Tyr4126=)
c.12360C>T (p.Tyr4120=)
c.12306C>T (p.Tyr4102=)
c.12225C>T (p.Tyr4075=)
c.12168C>T (p.Tyr4056=)
c.10254C>T (p.Tyr3418=)
c.9432C>T (p.Tyr3144=)
n.12272C>T
c.12474C>T (p.Tyr4158=)
c.12402C>T (p.Tyr4134=)
c.12264C>T (p.Tyr4088=)
c.10350C>T (p.Tyr3450=)
16g.2090375G>CCA394325149PKD1c.12354C>G (p.Tyr4118Ter)
c.12351C>G (p.Tyr4117Ter)
n.382C>G
c.9309C>G (p.Tyr3103Ter)
c.12432C>G (p.Tyr4144Ter)
c.12429C>G (p.Tyr4143Ter)
c.12414C>G (p.Tyr4138Ter)
c.12408C>G (p.Tyr4136Ter)
c.12405C>G (p.Tyr4135Ter)
c.12378C>G (p.Tyr4126Ter)
c.12360C>G (p.Tyr4120Ter)
c.12306C>G (p.Tyr4102Ter)
c.12225C>G (p.Tyr4075Ter)
c.12168C>G (p.Tyr4056Ter)
c.10254C>G (p.Tyr3418Ter)
c.9432C>G (p.Tyr3144Ter)
n.12272C>G
c.12474C>G (p.Tyr4158Ter)
c.12402C>G (p.Tyr4134Ter)
c.12264C>G (p.Tyr4088Ter)
c.10350C>G (p.Tyr3450Ter)
16g.2090375G=CA2202041557PKD1c.12354C= (p.Tyr4118=)
c.12351C= (p.Tyr4117=)
n.382C=
c.9309C= (p.Tyr3103=)
c.12432C= (p.Tyr4144=)
c.12429C= (p.Tyr4143=)
c.12414C= (p.Tyr4138=)
c.12408C= (p.Tyr4136=)
c.12405C= (p.Tyr4135=)
c.12378C= (p.Tyr4126=)
c.12360C= (p.Tyr4120=)
c.12306C= (p.Tyr4102=)
c.12225C= (p.Tyr4075=)
c.12168C= (p.Tyr4056=)
c.10254C= (p.Tyr3418=)
c.9432C= (p.Tyr3144=)
n.12272C=
c.12474C= (p.Tyr4158=)
c.12402C= (p.Tyr4134=)
c.12264C= (p.Tyr4088=)
c.10350C= (p.Tyr3450=)
16g.2090375G>TCA394325158PKD1c.12354C>A (p.Tyr4118Ter)
c.12351C>A (p.Tyr4117Ter)
n.382C>A
c.9309C>A (p.Tyr3103Ter)
c.12432C>A (p.Tyr4144Ter)
c.12429C>A (p.Tyr4143Ter)
c.12414C>A (p.Tyr4138Ter)
c.12408C>A (p.Tyr4136Ter)
c.12405C>A (p.Tyr4135Ter)
c.12378C>A (p.Tyr4126Ter)
c.12360C>A (p.Tyr4120Ter)
c.12306C>A (p.Tyr4102Ter)
c.12225C>A (p.Tyr4075Ter)
c.12168C>A (p.Tyr4056Ter)
c.10254C>A (p.Tyr3418Ter)
c.9432C>A (p.Tyr3144Ter)
n.12272C>A
c.12474C>A (p.Tyr4158Ter)
c.12402C>A (p.Tyr4134Ter)
c.12264C>A (p.Tyr4088Ter)
c.10350C>A (p.Tyr3450Ter)
 ClinVar dbSNP gnomAD v2
16g.2090376T>ACA394325162PKD1c.12353A>T (p.Tyr4118Phe)
c.12350A>T (p.Tyr4117Phe)
n.381A>T
c.9308A>T (p.Tyr3103Phe)
c.12431A>T (p.Tyr4144Phe)
c.12428A>T (p.Tyr4143Phe)
c.12413A>T (p.Tyr4138Phe)
c.12407A>T (p.Tyr4136Phe)
c.12404A>T (p.Tyr4135Phe)
c.12377A>T (p.Tyr4126Phe)
c.12359A>T (p.Tyr4120Phe)
c.12305A>T (p.Tyr4102Phe)
c.12224A>T (p.Tyr4075Phe)
c.12167A>T (p.Tyr4056Phe)
c.10253A>T (p.Tyr3418Phe)
c.9431A>T (p.Tyr3144Phe)
n.12271A>T
c.12473A>T (p.Tyr4158Phe)
c.12401A>T (p.Tyr4134Phe)
c.12263A>T (p.Tyr4088Phe)
c.10349A>T (p.Tyr3450Phe)
16g.2090376T>CCA394325164PKD1c.12353A>G (p.Tyr4118Cys)
c.12350A>G (p.Tyr4117Cys)
n.381A>G
c.9308A>G (p.Tyr3103Cys)
c.12431A>G (p.Tyr4144Cys)
c.12428A>G (p.Tyr4143Cys)
c.12413A>G (p.Tyr4138Cys)
c.12407A>G (p.Tyr4136Cys)
c.12404A>G (p.Tyr4135Cys)
c.12377A>G (p.Tyr4126Cys)
c.12359A>G (p.Tyr4120Cys)
c.12305A>G (p.Tyr4102Cys)
c.12224A>G (p.Tyr4075Cys)
c.12167A>G (p.Tyr4056Cys)
c.10253A>G (p.Tyr3418Cys)
c.9431A>G (p.Tyr3144Cys)
n.12271A>G
c.12473A>G (p.Tyr4158Cys)
c.12401A>G (p.Tyr4134Cys)
c.12263A>G (p.Tyr4088Cys)
c.10349A>G (p.Tyr3450Cys)
16g.2090376T>GCA394325166PKD1c.12353A>C (p.Tyr4118Ser)
c.12350A>C (p.Tyr4117Ser)
n.381A>C
c.9308A>C (p.Tyr3103Ser)
c.12431A>C (p.Tyr4144Ser)
c.12428A>C (p.Tyr4143Ser)
c.12413A>C (p.Tyr4138Ser)
c.12407A>C (p.Tyr4136Ser)
c.12404A>C (p.Tyr4135Ser)
c.12377A>C (p.Tyr4126Ser)
c.12359A>C (p.Tyr4120Ser)
c.12305A>C (p.Tyr4102Ser)
c.12224A>C (p.Tyr4075Ser)
c.12167A>C (p.Tyr4056Ser)
c.10253A>C (p.Tyr3418Ser)
c.9431A>C (p.Tyr3144Ser)
n.12271A>C
c.12473A>C (p.Tyr4158Ser)
c.12401A>C (p.Tyr4134Ser)
c.12263A>C (p.Tyr4088Ser)
c.10349A>C (p.Tyr3450Ser)
16g.2090377A>CCA394325171PKD1c.12352T>G (p.Tyr4118Asp)
c.12349T>G (p.Tyr4117Asp)
n.380T>G
c.9307T>G (p.Tyr3103Asp)
c.12430T>G (p.Tyr4144Asp)
c.12427T>G (p.Tyr4143Asp)
c.12412T>G (p.Tyr4138Asp)
c.12406T>G (p.Tyr4136Asp)
c.12403T>G (p.Tyr4135Asp)
c.12376T>G (p.Tyr4126Asp)
c.12358T>G (p.Tyr4120Asp)
c.12304T>G (p.Tyr4102Asp)
c.12223T>G (p.Tyr4075Asp)
c.12166T>G (p.Tyr4056Asp)
c.10252T>G (p.Tyr3418Asp)
c.9430T>G (p.Tyr3144Asp)
n.12270T>G
c.12472T>G (p.Tyr4158Asp)
c.12400T>G (p.Tyr4134Asp)
c.12262T>G (p.Tyr4088Asp)
c.10348T>G (p.Tyr3450Asp)
16g.2090377A>GCA394325173PKD1c.12352T>C (p.Tyr4118His)
c.12349T>C (p.Tyr4117His)
n.380T>C
c.9307T>C (p.Tyr3103His)
c.12430T>C (p.Tyr4144His)
c.12427T>C (p.Tyr4143His)
c.12412T>C (p.Tyr4138His)
c.12406T>C (p.Tyr4136His)
c.12403T>C (p.Tyr4135His)
c.12376T>C (p.Tyr4126His)
c.12358T>C (p.Tyr4120His)
c.12304T>C (p.Tyr4102His)
c.12223T>C (p.Tyr4075His)
c.12166T>C (p.Tyr4056His)
c.10252T>C (p.Tyr3418His)
c.9430T>C (p.Tyr3144His)
n.12270T>C
c.12472T>C (p.Tyr4158His)
c.12400T>C (p.Tyr4134His)
c.12262T>C (p.Tyr4088His)
c.10348T>C (p.Tyr3450His)
16g.2090377A>TCA394325169PKD1c.12352T>A (p.Tyr4118Asn)
c.12349T>A (p.Tyr4117Asn)
n.380T>A
c.9307T>A (p.Tyr3103Asn)
c.12430T>A (p.Tyr4144Asn)
c.12427T>A (p.Tyr4143Asn)
c.12412T>A (p.Tyr4138Asn)
c.12406T>A (p.Tyr4136Asn)
c.12403T>A (p.Tyr4135Asn)
c.12376T>A (p.Tyr4126Asn)
c.12358T>A (p.Tyr4120Asn)
c.12304T>A (p.Tyr4102Asn)
c.12223T>A (p.Tyr4075Asn)
c.12166T>A (p.Tyr4056Asn)
c.10252T>A (p.Tyr3418Asn)
c.9430T>A (p.Tyr3144Asn)
n.12270T>A
c.12472T>A (p.Tyr4158Asn)
c.12400T>A (p.Tyr4134Asn)
c.12262T>A (p.Tyr4088Asn)
c.10348T>A (p.Tyr3450Asn)
16g.2090378C>ACA493044311PKD1c.12351G>T (p.Leu4117=)
c.12348G>T (p.Leu4116=)
n.379G>T
c.9306G>T (p.Leu3102=)
c.12429G>T (p.Leu4143=)
c.12426G>T (p.Leu4142=)
c.12411G>T (p.Leu4137=)
c.12405G>T (p.Leu4135=)
c.12402G>T (p.Leu4134=)
c.12375G>T (p.Leu4125=)
c.12357G>T (p.Leu4119=)
c.12303G>T (p.Leu4101=)
c.12222G>T (p.Leu4074=)
c.12165G>T (p.Leu4055=)
c.10251G>T (p.Leu3417=)
c.9429G>T (p.Leu3143=)
n.12269G>T
c.12471G>T (p.Leu4157=)
c.12399G>T (p.Leu4133=)
c.12261G>T (p.Leu4087=)
c.10347G>T (p.Leu3449=)
16g.2090378C>GCA493044308PKD1c.12351G>C (p.Leu4117=)
c.12348G>C (p.Leu4116=)
n.379G>C
c.9306G>C (p.Leu3102=)
c.12429G>C (p.Leu4143=)
c.12426G>C (p.Leu4142=)
c.12411G>C (p.Leu4137=)
c.12405G>C (p.Leu4135=)
c.12402G>C (p.Leu4134=)
c.12375G>C (p.Leu4125=)
c.12357G>C (p.Leu4119=)
c.12303G>C (p.Leu4101=)
c.12222G>C (p.Leu4074=)
c.12165G>C (p.Leu4055=)
c.10251G>C (p.Leu3417=)
c.9429G>C (p.Leu3143=)
n.12269G>C
c.12471G>C (p.Leu4157=)
c.12399G>C (p.Leu4133=)
c.12261G>C (p.Leu4087=)
c.10347G>C (p.Leu3449=)
16g.2090378C>TCA493044309PKD1c.12351G>A (p.Leu4117=)
c.12348G>A (p.Leu4116=)
n.379G>A
c.9306G>A (p.Leu3102=)
c.12429G>A (p.Leu4143=)
c.12426G>A (p.Leu4142=)
c.12411G>A (p.Leu4137=)
c.12405G>A (p.Leu4135=)
c.12402G>A (p.Leu4134=)
c.12375G>A (p.Leu4125=)
c.12357G>A (p.Leu4119=)
c.12303G>A (p.Leu4101=)
c.12222G>A (p.Leu4074=)
c.12165G>A (p.Leu4055=)
c.10251G>A (p.Leu3417=)
c.9429G>A (p.Leu3143=)
n.12269G>A
c.12471G>A (p.Leu4157=)
c.12399G>A (p.Leu4133=)
c.12261G>A (p.Leu4087=)
c.10347G>A (p.Leu3449=)
 gnomAD v4
16g.2090379A=CA2202041561PKD1c.12350T= (p.Leu4117=)
c.12347T= (p.Leu4116=)
n.378T=
c.9305T= (p.Leu3102=)
c.12428T= (p.Leu4143=)
c.12425T= (p.Leu4142=)
c.12410T= (p.Leu4137=)
c.12404T= (p.Leu4135=)
c.12401T= (p.Leu4134=)
c.12374T= (p.Leu4125=)
c.12356T= (p.Leu4119=)
c.12302T= (p.Leu4101=)
c.12221T= (p.Leu4074=)
c.12164T= (p.Leu4055=)
c.10250T= (p.Leu3417=)
c.9428T= (p.Leu3143=)
n.12268T=
c.12470T= (p.Leu4157=)
c.12398T= (p.Leu4133=)
c.12260T= (p.Leu4087=)
c.10346T= (p.Leu3449=)
16g.2090379A>CCA394325176PKD1c.12350T>G (p.Leu4117Arg)
c.12347T>G (p.Leu4116Arg)
n.378T>G
c.9305T>G (p.Leu3102Arg)
c.12428T>G (p.Leu4143Arg)
c.12425T>G (p.Leu4142Arg)
c.12410T>G (p.Leu4137Arg)
c.12404T>G (p.Leu4135Arg)
c.12401T>G (p.Leu4134Arg)
c.12374T>G (p.Leu4125Arg)
c.12356T>G (p.Leu4119Arg)
c.12302T>G (p.Leu4101Arg)
c.12221T>G (p.Leu4074Arg)
c.12164T>G (p.Leu4055Arg)
c.10250T>G (p.Leu3417Arg)
c.9428T>G (p.Leu3143Arg)
n.12268T>G
c.12470T>G (p.Leu4157Arg)
c.12398T>G (p.Leu4133Arg)
c.12260T>G (p.Leu4087Arg)
c.10346T>G (p.Leu3449Arg)
16g.2090379A>GCA7828674PKD1c.12350T>C (p.Leu4117Pro)
c.12347T>C (p.Leu4116Pro)
n.378T>C
c.9305T>C (p.Leu3102Pro)
c.12428T>C (p.Leu4143Pro)
c.12425T>C (p.Leu4142Pro)
c.12410T>C (p.Leu4137Pro)
c.12404T>C (p.Leu4135Pro)
c.12401T>C (p.Leu4134Pro)
c.12374T>C (p.Leu4125Pro)
c.12356T>C (p.Leu4119Pro)
c.12302T>C (p.Leu4101Pro)
c.12221T>C (p.Leu4074Pro)
c.12164T>C (p.Leu4055Pro)
c.10250T>C (p.Leu3417Pro)
c.9428T>C (p.Leu3143Pro)
n.12268T>C
c.12470T>C (p.Leu4157Pro)
c.12398T>C (p.Leu4133Pro)
c.12260T>C (p.Leu4087Pro)
c.10346T>C (p.Leu3449Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2090379A>TCA394325178PKD1c.12350T>A (p.Leu4117Gln)
c.12347T>A (p.Leu4116Gln)
n.378T>A
c.9305T>A (p.Leu3102Gln)
c.12428T>A (p.Leu4143Gln)
c.12425T>A (p.Leu4142Gln)
c.12410T>A (p.Leu4137Gln)
c.12404T>A (p.Leu4135Gln)
c.12401T>A (p.Leu4134Gln)
c.12374T>A (p.Leu4125Gln)
c.12356T>A (p.Leu4119Gln)
c.12302T>A (p.Leu4101Gln)
c.12221T>A (p.Leu4074Gln)
c.12164T>A (p.Leu4055Gln)
c.10250T>A (p.Leu3417Gln)
c.9428T>A (p.Leu3143Gln)
n.12268T>A
c.12470T>A (p.Leu4157Gln)
c.12398T>A (p.Leu4133Gln)
c.12260T>A (p.Leu4087Gln)
c.10346T>A (p.Leu3449Gln)
16g.2090380G>ACA493044315PKD1c.12349C>T (p.Leu4117=)
c.12346C>T (p.Leu4116=)
n.377C>T
c.9304C>T (p.Leu3102=)
c.12427C>T (p.Leu4143=)
c.12424C>T (p.Leu4142=)
c.12409C>T (p.Leu4137=)
c.12403C>T (p.Leu4135=)
c.12400C>T (p.Leu4134=)
c.12373C>T (p.Leu4125=)
c.12355C>T (p.Leu4119=)
c.12301C>T (p.Leu4101=)
c.12220C>T (p.Leu4074=)
c.12163C>T (p.Leu4055=)
c.10249C>T (p.Leu3417=)
c.9427C>T (p.Leu3143=)
n.12267C>T
c.12469C>T (p.Leu4157=)
c.12397C>T (p.Leu4133=)
c.12259C>T (p.Leu4087=)
c.10345C>T (p.Leu3449=)
 dbSNP gnomAD v3 gnomAD v4
16g.2090380G>CCA394325183PKD1c.12349C>G (p.Leu4117Val)
c.12346C>G (p.Leu4116Val)
n.377C>G
c.9304C>G (p.Leu3102Val)
c.12427C>G (p.Leu4143Val)
c.12424C>G (p.Leu4142Val)
c.12409C>G (p.Leu4137Val)
c.12403C>G (p.Leu4135Val)
c.12400C>G (p.Leu4134Val)
c.12373C>G (p.Leu4125Val)
c.12355C>G (p.Leu4119Val)
c.12301C>G (p.Leu4101Val)
c.12220C>G (p.Leu4074Val)
c.12163C>G (p.Leu4055Val)
c.10249C>G (p.Leu3417Val)
c.9427C>G (p.Leu3143Val)
n.12267C>G
c.12469C>G (p.Leu4157Val)
c.12397C>G (p.Leu4133Val)
c.12259C>G (p.Leu4087Val)
c.10345C>G (p.Leu3449Val)
16g.2090380G=CA2202041566PKD1c.12349C= (p.Leu4117=)
c.12346C= (p.Leu4116=)
n.377C=
c.9304C= (p.Leu3102=)
c.12427C= (p.Leu4143=)
c.12424C= (p.Leu4142=)
c.12409C= (p.Leu4137=)
c.12403C= (p.Leu4135=)
c.12400C= (p.Leu4134=)
c.12373C= (p.Leu4125=)
c.12355C= (p.Leu4119=)
c.12301C= (p.Leu4101=)
c.12220C= (p.Leu4074=)
c.12163C= (p.Leu4055=)
c.10249C= (p.Leu3417=)
c.9427C= (p.Leu3143=)
n.12267C=
c.12469C= (p.Leu4157=)
c.12397C= (p.Leu4133=)
c.12259C= (p.Leu4087=)
c.10345C= (p.Leu3449=)
16g.2090380G>TCA394325189PKD1c.12349C>A (p.Leu4117Met)
c.12346C>A (p.Leu4116Met)
n.377C>A
c.9304C>A (p.Leu3102Met)
c.12427C>A (p.Leu4143Met)
c.12424C>A (p.Leu4142Met)
c.12409C>A (p.Leu4137Met)
c.12403C>A (p.Leu4135Met)
c.12400C>A (p.Leu4134Met)
c.12373C>A (p.Leu4125Met)
c.12355C>A (p.Leu4119Met)
c.12301C>A (p.Leu4101Met)
c.12220C>A (p.Leu4074Met)
c.12163C>A (p.Leu4055Met)
c.10249C>A (p.Leu3417Met)
c.9427C>A (p.Leu3143Met)
n.12267C>A
c.12469C>A (p.Leu4157Met)
c.12397C>A (p.Leu4133Met)
c.12259C>A (p.Leu4087Met)
c.10345C>A (p.Leu3449Met)
16g.2090380_2090381delinsGCCA2202041570PKD1c.12348_12349delinsGC (p.Glu4116=)
c.12345_12346delinsGC (p.Glu4115=)
n.376_377delinsGC
c.9303_9304delinsGC (p.Glu3101=)
c.12426_12427delinsGC (p.Glu4142=)
c.12423_12424delinsGC (p.Glu4141=)
c.12408_12409delinsGC (p.Glu4136=)
c.12402_12403delinsGC (p.Glu4134=)
c.12399_12400delinsGC (p.Glu4133=)
c.12372_12373delinsGC (p.Glu4124=)
c.12354_12355delinsGC (p.Glu4118=)
c.12300_12301delinsGC (p.Glu4100=)
c.12219_12220delinsGC (p.Glu4073=)
c.12162_12163delinsGC (p.Glu4054=)
c.10248_10249delinsGC (p.Glu3416=)
c.9426_9427delinsGC (p.Glu3142=)
n.12266_12267delinsGC
c.12468_12469delinsGC (p.Glu4156=)
c.12396_12397delinsGC (p.Glu4132=)
c.12258_12259delinsGC (p.Glu4086=)
c.10344_10345delinsGC (p.Glu3448=)
16g.2090381delCA913191021PKD1c.12348del (p.Glu4116AspfsTer?)
c.12345del (p.Glu4115AspfsTer?)
n.376del
c.9303del (p.Glu3101AspfsTer?)
c.12426del (p.Glu4142AspfsTer?)
c.12423del (p.Glu4141AspfsTer?)
c.12408del (p.Glu4136AspfsTer?)
c.12402del (p.Glu4134AspfsTer?)
c.12399del (p.Glu4133AspfsTer?)
c.12372del (p.Glu4124AspfsTer?)
c.12354del (p.Glu4118AspfsTer?)
c.12300del (p.Glu4100AspfsTer?)
c.12219del (p.Glu4073AspfsTer?)
c.12162del (p.Glu4054AspfsTer?)
c.10248del (p.Glu3416AspfsTer?)
c.9426del (p.Glu3142AspfsTer?)
n.12266del
c.12468del (p.Glu4156AspfsTer?)
c.12396del (p.Glu4132AspfsTer?)
c.12258del (p.Glu4086AspfsTer?)
c.10344del (p.Glu3448AspfsTer?)
 ClinVar dbSNP
16g.2090381C>ACA394325195PKD1c.12348G>T (p.Glu4116Asp)
c.12345G>T (p.Glu4115Asp)
n.376G>T
c.9303G>T (p.Glu3101Asp)
c.12426G>T (p.Glu4142Asp)
c.12423G>T (p.Glu4141Asp)
c.12408G>T (p.Glu4136Asp)
c.12402G>T (p.Glu4134Asp)
c.12399G>T (p.Glu4133Asp)
c.12372G>T (p.Glu4124Asp)
c.12354G>T (p.Glu4118Asp)
c.12300G>T (p.Glu4100Asp)
c.12219G>T (p.Glu4073Asp)
c.12162G>T (p.Glu4054Asp)
c.10248G>T (p.Glu3416Asp)
c.9426G>T (p.Glu3142Asp)
n.12266G>T
c.12468G>T (p.Glu4156Asp)
c.12396G>T (p.Glu4132Asp)
c.12258G>T (p.Glu4086Asp)
c.10344G>T (p.Glu3448Asp)
16g.2090381C=CA2202041580PKD1c.12348G= (p.Glu4116=)
c.12345G= (p.Glu4115=)
n.376G=
c.9303G= (p.Glu3101=)
c.12426G= (p.Glu4142=)
c.12423G= (p.Glu4141=)
c.12408G= (p.Glu4136=)
c.12402G= (p.Glu4134=)
c.12399G= (p.Glu4133=)
c.12372G= (p.Glu4124=)
c.12354G= (p.Glu4118=)
c.12300G= (p.Glu4100=)
c.12219G= (p.Glu4073=)
c.12162G= (p.Glu4054=)
c.10248G= (p.Glu3416=)
c.9426G= (p.Glu3142=)
n.12266G=
c.12468G= (p.Glu4156=)
c.12396G= (p.Glu4132=)
c.12258G= (p.Glu4086=)
c.10344G= (p.Glu3448=)
16g.2090381C>GCA394325193PKD1c.12348G>C (p.Glu4116Asp)
c.12345G>C (p.Glu4115Asp)
n.376G>C
c.9303G>C (p.Glu3101Asp)
c.12426G>C (p.Glu4142Asp)
c.12423G>C (p.Glu4141Asp)
c.12408G>C (p.Glu4136Asp)
c.12402G>C (p.Glu4134Asp)
c.12399G>C (p.Glu4133Asp)
c.12372G>C (p.Glu4124Asp)
c.12354G>C (p.Glu4118Asp)
c.12300G>C (p.Glu4100Asp)
c.12219G>C (p.Glu4073Asp)
c.12162G>C (p.Glu4054Asp)
c.10248G>C (p.Glu3416Asp)
c.9426G>C (p.Glu3142Asp)
n.12266G>C
c.12468G>C (p.Glu4156Asp)
c.12396G>C (p.Glu4132Asp)
c.12258G>C (p.Glu4086Asp)
c.10344G>C (p.Glu3448Asp)
 gnomAD v4
16g.2090381C>TCA7828675PKD1c.12348G>A (p.Glu4116=)
c.12345G>A (p.Glu4115=)
n.376G>A
c.9303G>A (p.Glu3101=)
c.12426G>A (p.Glu4142=)
c.12423G>A (p.Glu4141=)
c.12408G>A (p.Glu4136=)
c.12402G>A (p.Glu4134=)
c.12399G>A (p.Glu4133=)
c.12372G>A (p.Glu4124=)
c.12354G>A (p.Glu4118=)
c.12300G>A (p.Glu4100=)
c.12219G>A (p.Glu4073=)
c.12162G>A (p.Glu4054=)
c.10248G>A (p.Glu3416=)
c.9426G>A (p.Glu3142=)
n.12266G>A
c.12468G>A (p.Glu4156=)
c.12396G>A (p.Glu4132=)
c.12258G>A (p.Glu4086=)
c.10344G>A (p.Glu3448=)
 dbSNP ExAC gnomAD v4
16g.2090384_2090385delCA2695221515PKD1c.12347_12348del (p.Glu4116AlafsTer?)
c.12344_12345del (p.Glu4115AlafsTer?)
n.375_376del
c.9302_9303del (p.Glu3101AlafsTer?)
c.12425_12426del (p.Glu4142AlafsTer?)
c.12422_12423del (p.Glu4141AlafsTer?)
c.12407_12408del (p.Glu4136AlafsTer?)
c.12401_12402del (p.Glu4134AlafsTer?)
c.12398_12399del (p.Glu4133AlafsTer?)
c.12371_12372del (p.Glu4124AlafsTer?)
c.12353_12354del (p.Glu4118AlafsTer?)
c.12299_12300del (p.Glu4100AlafsTer?)
c.12218_12219del (p.Glu4073AlafsTer?)
c.12161_12162del (p.Glu4054AlafsTer?)
c.10247_10248del (p.Glu3416AlafsTer?)
c.9425_9426del (p.Glu3142AlafsTer?)
n.12265_12266del
c.12467_12468del (p.Glu4156AlafsTer?)
c.12395_12396del (p.Glu4132AlafsTer?)
c.12257_12258del (p.Glu4086AlafsTer?)
c.10343_10344del (p.Glu3448AlafsTer?)
16g.2090382T>ACA394325201PKD1c.12347A>T (p.Glu4116Val)
c.12344A>T (p.Glu4115Val)
n.375A>T
c.9302A>T (p.Glu3101Val)
c.12425A>T (p.Glu4142Val)
c.12422A>T (p.Glu4141Val)
c.12407A>T (p.Glu4136Val)
c.12401A>T (p.Glu4134Val)
c.12398A>T (p.Glu4133Val)
c.12371A>T (p.Glu4124Val)
c.12353A>T (p.Glu4118Val)
c.12299A>T (p.Glu4100Val)
c.12218A>T (p.Glu4073Val)
c.12161A>T (p.Glu4054Val)
c.10247A>T (p.Glu3416Val)
c.9425A>T (p.Glu3142Val)
n.12265A>T
c.12467A>T (p.Glu4156Val)
c.12395A>T (p.Glu4132Val)
c.12257A>T (p.Glu4086Val)
c.10343A>T (p.Glu3448Val)
16g.2090382T>CCA394325204PKD1c.12347A>G (p.Glu4116Gly)
c.12344A>G (p.Glu4115Gly)
n.375A>G
c.9302A>G (p.Glu3101Gly)
c.12425A>G (p.Glu4142Gly)
c.12422A>G (p.Glu4141Gly)
c.12407A>G (p.Glu4136Gly)
c.12401A>G (p.Glu4134Gly)
c.12398A>G (p.Glu4133Gly)
c.12371A>G (p.Glu4124Gly)
c.12353A>G (p.Glu4118Gly)
c.12299A>G (p.Glu4100Gly)
c.12218A>G (p.Glu4073Gly)
c.12161A>G (p.Glu4054Gly)
c.10247A>G (p.Glu3416Gly)
c.9425A>G (p.Glu3142Gly)
n.12265A>G
c.12467A>G (p.Glu4156Gly)
c.12395A>G (p.Glu4132Gly)
c.12257A>G (p.Glu4086Gly)
c.10343A>G (p.Glu3448Gly)
16g.2090382T>GCA394325209PKD1c.12347A>C (p.Glu4116Ala)
c.12344A>C (p.Glu4115Ala)
n.375A>C
c.9302A>C (p.Glu3101Ala)
c.12425A>C (p.Glu4142Ala)
c.12422A>C (p.Glu4141Ala)
c.12407A>C (p.Glu4136Ala)
c.12401A>C (p.Glu4134Ala)
c.12398A>C (p.Glu4133Ala)
c.12371A>C (p.Glu4124Ala)
c.12353A>C (p.Glu4118Ala)
c.12299A>C (p.Glu4100Ala)
c.12218A>C (p.Glu4073Ala)
c.12161A>C (p.Glu4054Ala)
c.10247A>C (p.Glu3416Ala)
c.9425A>C (p.Glu3142Ala)
n.12265A>C
c.12467A>C (p.Glu4156Ala)
c.12395A>C (p.Glu4132Ala)
c.12257A>C (p.Glu4086Ala)
c.10343A>C (p.Glu3448Ala)
16g.2090383C>ACA394325211PKD1c.12346G>T (p.Glu4116Ter)
c.12343G>T (p.Glu4115Ter)
n.374G>T
c.9301G>T (p.Glu3101Ter)
c.12424G>T (p.Glu4142Ter)
c.12421G>T (p.Glu4141Ter)
c.12406G>T (p.Glu4136Ter)
c.12400G>T (p.Glu4134Ter)
c.12397G>T (p.Glu4133Ter)
c.12370G>T (p.Glu4124Ter)
c.12352G>T (p.Glu4118Ter)
c.12298G>T (p.Glu4100Ter)
c.12217G>T (p.Glu4073Ter)
c.12160G>T (p.Glu4054Ter)
c.10246G>T (p.Glu3416Ter)
c.9424G>T (p.Glu3142Ter)
n.12264G>T
c.12466G>T (p.Glu4156Ter)
c.12394G>T (p.Glu4132Ter)
c.12256G>T (p.Glu4086Ter)
c.10342G>T (p.Glu3448Ter)
16g.2090383C=CA2202041584PKD1c.12346G= (p.Glu4116=)
c.12343G= (p.Glu4115=)
n.374G=
c.9301G= (p.Glu3101=)
c.12424G= (p.Glu4142=)
c.12421G= (p.Glu4141=)
c.12406G= (p.Glu4136=)
c.12400G= (p.Glu4134=)
c.12397G= (p.Glu4133=)
c.12370G= (p.Glu4124=)
c.12352G= (p.Glu4118=)
c.12298G= (p.Glu4100=)
c.12217G= (p.Glu4073=)
c.12160G= (p.Glu4054=)
c.10246G= (p.Glu3416=)
c.9424G= (p.Glu3142=)
n.12264G=
c.12466G= (p.Glu4156=)
c.12394G= (p.Glu4132=)
c.12256G= (p.Glu4086=)
c.10342G= (p.Glu3448=)
16g.2090383C>GCA394325213PKD1c.12346G>C (p.Glu4116Gln)
c.12343G>C (p.Glu4115Gln)
n.374G>C
c.9301G>C (p.Glu3101Gln)
c.12424G>C (p.Glu4142Gln)
c.12421G>C (p.Glu4141Gln)
c.12406G>C (p.Glu4136Gln)
c.12400G>C (p.Glu4134Gln)
c.12397G>C (p.Glu4133Gln)
c.12370G>C (p.Glu4124Gln)
c.12352G>C (p.Glu4118Gln)
c.12298G>C (p.Glu4100Gln)
c.12217G>C (p.Glu4073Gln)
c.12160G>C (p.Glu4054Gln)
c.10246G>C (p.Glu3416Gln)
c.9424G>C (p.Glu3142Gln)
n.12264G>C
c.12466G>C (p.Glu4156Gln)
c.12394G>C (p.Glu4132Gln)
c.12256G>C (p.Glu4086Gln)
c.10342G>C (p.Glu3448Gln)
16g.2090383C>TCA394325214PKD1c.12346G>A (p.Glu4116Lys)
c.12343G>A (p.Glu4115Lys)
n.374G>A
c.9301G>A (p.Glu3101Lys)
c.12424G>A (p.Glu4142Lys)
c.12421G>A (p.Glu4141Lys)
c.12406G>A (p.Glu4136Lys)
c.12400G>A (p.Glu4134Lys)
c.12397G>A (p.Glu4133Lys)
c.12370G>A (p.Glu4124Lys)
c.12352G>A (p.Glu4118Lys)
c.12298G>A (p.Glu4100Lys)
c.12217G>A (p.Glu4073Lys)
c.12160G>A (p.Glu4054Lys)
c.10246G>A (p.Glu3416Lys)
c.9424G>A (p.Glu3142Lys)
n.12264G>A
c.12466G>A (p.Glu4156Lys)
c.12394G>A (p.Glu4132Lys)
c.12256G>A (p.Glu4086Lys)
c.10342G>A (p.Glu3448Lys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.2090384T>ACA493044318PKD1c.12345A>T (p.Gly4115=)
c.12342A>T (p.Gly4114=)
n.373A>T
c.9300A>T (p.Gly3100=)
c.12423A>T (p.Gly4141=)
c.12420A>T (p.Gly4140=)
c.12405A>T (p.Gly4135=)
c.12399A>T (p.Gly4133=)
c.12396A>T (p.Gly4132=)
c.12369A>T (p.Gly4123=)
c.12351A>T (p.Gly4117=)
c.12297A>T (p.Gly4099=)
c.12216A>T (p.Gly4072=)
c.12159A>T (p.Gly4053=)
c.10245A>T (p.Gly3415=)
c.9423A>T (p.Gly3141=)
n.12263A>T
c.12465A>T (p.Gly4155=)
c.12393A>T (p.Gly4131=)
c.12255A>T (p.Gly4085=)
c.10341A>T (p.Gly3447=)
16g.2090384T>CCA493044320PKD1c.12345A>G (p.Gly4115=)
c.12342A>G (p.Gly4114=)
n.373A>G
c.9300A>G (p.Gly3100=)
c.12423A>G (p.Gly4141=)
c.12420A>G (p.Gly4140=)
c.12405A>G (p.Gly4135=)
c.12399A>G (p.Gly4133=)
c.12396A>G (p.Gly4132=)
c.12369A>G (p.Gly4123=)
c.12351A>G (p.Gly4117=)
c.12297A>G (p.Gly4099=)
c.12216A>G (p.Gly4072=)
c.12159A>G (p.Gly4053=)
c.10245A>G (p.Gly3415=)
c.9423A>G (p.Gly3141=)
n.12263A>G
c.12465A>G (p.Gly4155=)
c.12393A>G (p.Gly4131=)
c.12255A>G (p.Gly4085=)
c.10341A>G (p.Gly3447=)
 dbSNP gnomAD v4
16g.2090384T>GCA493044321PKD1c.12345A>C (p.Gly4115=)
c.12342A>C (p.Gly4114=)
n.373A>C
c.9300A>C (p.Gly3100=)
c.12423A>C (p.Gly4141=)
c.12420A>C (p.Gly4140=)
c.12405A>C (p.Gly4135=)
c.12399A>C (p.Gly4133=)
c.12396A>C (p.Gly4132=)
c.12369A>C (p.Gly4123=)
c.12351A>C (p.Gly4117=)
c.12297A>C (p.Gly4099=)
c.12216A>C (p.Gly4072=)
c.12159A>C (p.Gly4053=)
c.10245A>C (p.Gly3415=)
c.9423A>C (p.Gly3141=)
n.12263A>C
c.12465A>C (p.Gly4155=)
c.12393A>C (p.Gly4131=)
c.12255A>C (p.Gly4085=)
c.10341A>C (p.Gly3447=)
16g.2090384T=CA2202041588PKD1c.12345A= (p.Gly4115=)
c.12342A= (p.Gly4114=)
n.373A=
c.9300A= (p.Gly3100=)
c.12423A= (p.Gly4141=)
c.12420A= (p.Gly4140=)
c.12405A= (p.Gly4135=)
c.12399A= (p.Gly4133=)
c.12396A= (p.Gly4132=)
c.12369A= (p.Gly4123=)
c.12351A= (p.Gly4117=)
c.12297A= (p.Gly4099=)
c.12216A= (p.Gly4072=)
c.12159A= (p.Gly4053=)
c.10245A= (p.Gly3415=)
c.9423A= (p.Gly3141=)
n.12263A=
c.12465A= (p.Gly4155=)
c.12393A= (p.Gly4131=)
c.12255A= (p.Gly4085=)
c.10341A= (p.Gly3447=)
16g.2090385C>ACA394325217PKD1c.12344G>T (p.Gly4115Val)
c.12341G>T (p.Gly4114Val)
n.372G>T
c.9299G>T (p.Gly3100Val)
c.12422G>T (p.Gly4141Val)
c.12419G>T (p.Gly4140Val)
c.12404G>T (p.Gly4135Val)
c.12398G>T (p.Gly4133Val)
c.12395G>T (p.Gly4132Val)
c.12368G>T (p.Gly4123Val)
c.12350G>T (p.Gly4117Val)
c.12296G>T (p.Gly4099Val)
c.12215G>T (p.Gly4072Val)
c.12158G>T (p.Gly4053Val)
c.10244G>T (p.Gly3415Val)
c.9422G>T (p.Gly3141Val)
n.12262G>T
c.12464G>T (p.Gly4155Val)
c.12392G>T (p.Gly4131Val)
c.12254G>T (p.Gly4085Val)
c.10340G>T (p.Gly3447Val)
16g.2090385C>GCA394325224PKD1c.12344G>C (p.Gly4115Ala)
c.12341G>C (p.Gly4114Ala)
n.372G>C
c.9299G>C (p.Gly3100Ala)
c.12422G>C (p.Gly4141Ala)
c.12419G>C (p.Gly4140Ala)
c.12404G>C (p.Gly4135Ala)
c.12398G>C (p.Gly4133Ala)
c.12395G>C (p.Gly4132Ala)
c.12368G>C (p.Gly4123Ala)
c.12350G>C (p.Gly4117Ala)
c.12296G>C (p.Gly4099Ala)
c.12215G>C (p.Gly4072Ala)
c.12158G>C (p.Gly4053Ala)
c.10244G>C (p.Gly3415Ala)
c.9422G>C (p.Gly3141Ala)
n.12262G>C
c.12464G>C (p.Gly4155Ala)
c.12392G>C (p.Gly4131Ala)
c.12254G>C (p.Gly4085Ala)
c.10340G>C (p.Gly3447Ala)
 gnomAD v4
16g.2090385C>TCA394325221PKD1c.12344G>A (p.Gly4115Glu)
c.12341G>A (p.Gly4114Glu)
n.372G>A
c.9299G>A (p.Gly3100Glu)
c.12422G>A (p.Gly4141Glu)
c.12419G>A (p.Gly4140Glu)
c.12404G>A (p.Gly4135Glu)
c.12398G>A (p.Gly4133Glu)
c.12395G>A (p.Gly4132Glu)
c.12368G>A (p.Gly4123Glu)
c.12350G>A (p.Gly4117Glu)
c.12296G>A (p.Gly4099Glu)
c.12215G>A (p.Gly4072Glu)
c.12158G>A (p.Gly4053Glu)
c.10244G>A (p.Gly3415Glu)
c.9422G>A (p.Gly3141Glu)
n.12262G>A
c.12464G>A (p.Gly4155Glu)
c.12392G>A (p.Gly4131Glu)
c.12254G>A (p.Gly4085Glu)
c.10340G>A (p.Gly3447Glu)
 gnomAD v4
16g.2090386dupCA915948974PKD1c.12344dup (p.Glu4116ArgfsTer?)
c.12341dup (p.Glu4115ArgfsTer?)
n.372dup
c.9299dup (p.Glu3101ArgfsTer?)
c.12422dup (p.Glu4142ArgfsTer?)
c.12419dup (p.Glu4141ArgfsTer?)
c.12404dup (p.Glu4136ArgfsTer?)
c.12398dup (p.Glu4134ArgfsTer?)
c.12395dup (p.Glu4133ArgfsTer?)
c.12368dup (p.Glu4124ArgfsTer?)
c.12350dup (p.Glu4118ArgfsTer?)
c.12296dup (p.Glu4100ArgfsTer?)
c.12215dup (p.Glu4073ArgfsTer?)
c.12158dup (p.Glu4054ArgfsTer?)
c.10244dup (p.Glu3416ArgfsTer?)
c.9422dup (p.Glu3142ArgfsTer?)
n.12262dup
c.12464dup (p.Glu4156ArgfsTer?)
c.12392dup (p.Glu4132ArgfsTer?)
c.12254dup (p.Glu4086ArgfsTer?)
c.10340dup (p.Glu3448ArgfsTer?)
 ClinVar dbSNP
16g.2090386C>ACA394325226PKD1c.12343G>T (p.Gly4115Ter)
c.12340G>T (p.Gly4114Ter)
n.371G>T
c.9298G>T (p.Gly3100Ter)
c.12421G>T (p.Gly4141Ter)
c.12418G>T (p.Gly4140Ter)
c.12403G>T (p.Gly4135Ter)
c.12397G>T (p.Gly4133Ter)
c.12394G>T (p.Gly4132Ter)
c.12367G>T (p.Gly4123Ter)
c.12349G>T (p.Gly4117Ter)
c.12295G>T (p.Gly4099Ter)
c.12214G>T (p.Gly4072Ter)
c.12157G>T (p.Gly4053Ter)
c.10243G>T (p.Gly3415Ter)
c.9421G>T (p.Gly3141Ter)
n.12261G>T
c.12463G>T (p.Gly4155Ter)
c.12391G>T (p.Gly4131Ter)
c.12253G>T (p.Gly4085Ter)
c.10339G>T (p.Gly3447Ter)
16g.2090386C>GCA394325228PKD1c.12343G>C (p.Gly4115Arg)
c.12340G>C (p.Gly4114Arg)
n.371G>C
c.9298G>C (p.Gly3100Arg)
c.12421G>C (p.Gly4141Arg)
c.12418G>C (p.Gly4140Arg)
c.12403G>C (p.Gly4135Arg)
c.12397G>C (p.Gly4133Arg)
c.12394G>C (p.Gly4132Arg)
c.12367G>C (p.Gly4123Arg)
c.12349G>C (p.Gly4117Arg)
c.12295G>C (p.Gly4099Arg)
c.12214G>C (p.Gly4072Arg)
c.12157G>C (p.Gly4053Arg)
c.10243G>C (p.Gly3415Arg)
c.9421G>C (p.Gly3141Arg)
n.12261G>C
c.12463G>C (p.Gly4155Arg)
c.12391G>C (p.Gly4131Arg)
c.12253G>C (p.Gly4085Arg)
c.10339G>C (p.Gly3447Arg)
16g.2090386C>TCA394325231PKD1c.12343G>A (p.Gly4115Arg)
c.12340G>A (p.Gly4114Arg)
n.371G>A
c.9298G>A (p.Gly3100Arg)
c.12421G>A (p.Gly4141Arg)
c.12418G>A (p.Gly4140Arg)
c.12403G>A (p.Gly4135Arg)
c.12397G>A (p.Gly4133Arg)
c.12394G>A (p.Gly4132Arg)
c.12367G>A (p.Gly4123Arg)
c.12349G>A (p.Gly4117Arg)
c.12295G>A (p.Gly4099Arg)
c.12214G>A (p.Gly4072Arg)
c.12157G>A (p.Gly4053Arg)
c.10243G>A (p.Gly3415Arg)
c.9421G>A (p.Gly3141Arg)
n.12261G>A
c.12463G>A (p.Gly4155Arg)
c.12391G>A (p.Gly4131Arg)
c.12253G>A (p.Gly4085Arg)
c.10339G>A (p.Gly3447Arg)
16g.2090387A=CA2202041594PKD1c.12342T= (p.Arg4114=)
c.12339T= (p.Arg4113=)
n.370T=
c.9297T= (p.Arg3099=)
c.12420T= (p.Arg4140=)
c.12417T= (p.Arg4139=)
c.12402T= (p.Arg4134=)
c.12396T= (p.Arg4132=)
c.12393T= (p.Arg4131=)
c.12366T= (p.Arg4122=)
c.12348T= (p.Arg4116=)
c.12294T= (p.Arg4098=)
c.12213T= (p.Arg4071=)
c.12156T= (p.Arg4052=)
c.10242T= (p.Arg3414=)
c.9420T= (p.Arg3140=)
n.12260T=
c.12462T= (p.Arg4154=)
c.12390T= (p.Arg4130=)
c.12252T= (p.Arg4084=)
c.10338T= (p.Arg3446=)
16g.2090387A>CCA7828676PKD1c.12342T>G (p.Arg4114=)
c.12339T>G (p.Arg4113=)
n.370T>G
c.9297T>G (p.Arg3099=)
c.12420T>G (p.Arg4140=)
c.12417T>G (p.Arg4139=)
c.12402T>G (p.Arg4134=)
c.12396T>G (p.Arg4132=)
c.12393T>G (p.Arg4131=)
c.12366T>G (p.Arg4122=)
c.12348T>G (p.Arg4116=)
c.12294T>G (p.Arg4098=)
c.12213T>G (p.Arg4071=)
c.12156T>G (p.Arg4052=)
c.10242T>G (p.Arg3414=)
c.9420T>G (p.Arg3140=)
n.12260T>G
c.12462T>G (p.Arg4154=)
c.12390T>G (p.Arg4130=)
c.12252T>G (p.Arg4084=)
c.10338T>G (p.Arg3446=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2090387A>GCA493044325PKD1c.12342T>C (p.Arg4114=)
c.12339T>C (p.Arg4113=)
n.370T>C
c.9297T>C (p.Arg3099=)
c.12420T>C (p.Arg4140=)
c.12417T>C (p.Arg4139=)
c.12402T>C (p.Arg4134=)
c.12396T>C (p.Arg4132=)
c.12393T>C (p.Arg4131=)
c.12366T>C (p.Arg4122=)
c.12348T>C (p.Arg4116=)
c.12294T>C (p.Arg4098=)
c.12213T>C (p.Arg4071=)
c.12156T>C (p.Arg4052=)
c.10242T>C (p.Arg3414=)
c.9420T>C (p.Arg3140=)
n.12260T>C
c.12462T>C (p.Arg4154=)
c.12390T>C (p.Arg4130=)
c.12252T>C (p.Arg4084=)
c.10338T>C (p.Arg3446=)
16g.2090387A>TCA493044326PKD1c.12342T>A (p.Arg4114=)
c.12339T>A (p.Arg4113=)
n.370T>A
c.9297T>A (p.Arg3099=)
c.12420T>A (p.Arg4140=)
c.12417T>A (p.Arg4139=)
c.12402T>A (p.Arg4134=)
c.12396T>A (p.Arg4132=)
c.12393T>A (p.Arg4131=)
c.12366T>A (p.Arg4122=)
c.12348T>A (p.Arg4116=)
c.12294T>A (p.Arg4098=)
c.12213T>A (p.Arg4071=)
c.12156T>A (p.Arg4052=)
c.10242T>A (p.Arg3414=)
c.9420T>A (p.Arg3140=)
n.12260T>A
c.12462T>A (p.Arg4154=)
c.12390T>A (p.Arg4130=)
c.12252T>A (p.Arg4084=)
c.10338T>A (p.Arg3446=)
16g.2090388C>ACA394325240PKD1c.12341G>T (p.Arg4114Leu)
c.12338G>T (p.Arg4113Leu)
n.369G>T
c.9296G>T (p.Arg3099Leu)
c.12419G>T (p.Arg4140Leu)
c.12416G>T (p.Arg4139Leu)
c.12401G>T (p.Arg4134Leu)
c.12395G>T (p.Arg4132Leu)
c.12392G>T (p.Arg4131Leu)
c.12365G>T (p.Arg4122Leu)
c.12347G>T (p.Arg4116Leu)
c.12293G>T (p.Arg4098Leu)
c.12212G>T (p.Arg4071Leu)
c.12155G>T (p.Arg4052Leu)
c.10241G>T (p.Arg3414Leu)
c.9419G>T (p.Arg3140Leu)
n.12259G>T
c.12461G>T (p.Arg4154Leu)
c.12389G>T (p.Arg4130Leu)
c.12251G>T (p.Arg4084Leu)
c.10337G>T (p.Arg3446Leu)
 dbSNP gnomAD v4
16g.2090388C=CA2202041597PKD1c.12341G= (p.Arg4114=)
c.12338G= (p.Arg4113=)
n.369G=
c.9296G= (p.Arg3099=)
c.12419G= (p.Arg4140=)
c.12416G= (p.Arg4139=)
c.12401G= (p.Arg4134=)
c.12395G= (p.Arg4132=)
c.12392G= (p.Arg4131=)
c.12365G= (p.Arg4122=)
c.12347G= (p.Arg4116=)
c.12293G= (p.Arg4098=)
c.12212G= (p.Arg4071=)
c.12155G= (p.Arg4052=)
c.10241G= (p.Arg3414=)
c.9419G= (p.Arg3140=)
n.12259G=
c.12461G= (p.Arg4154=)
c.12389G= (p.Arg4130=)
c.12251G= (p.Arg4084=)
c.10337G= (p.Arg3446=)
16g.2090388C>GCA394325246PKD1c.12341G>C (p.Arg4114Pro)
c.12338G>C (p.Arg4113Pro)
n.369G>C
c.9296G>C (p.Arg3099Pro)
c.12419G>C (p.Arg4140Pro)
c.12416G>C (p.Arg4139Pro)
c.12401G>C (p.Arg4134Pro)
c.12395G>C (p.Arg4132Pro)
c.12392G>C (p.Arg4131Pro)
c.12365G>C (p.Arg4122Pro)
c.12347G>C (p.Arg4116Pro)
c.12293G>C (p.Arg4098Pro)
c.12212G>C (p.Arg4071Pro)
c.12155G>C (p.Arg4052Pro)
c.10241G>C (p.Arg3414Pro)
c.9419G>C (p.Arg3140Pro)
n.12259G>C
c.12461G>C (p.Arg4154Pro)
c.12389G>C (p.Arg4130Pro)
c.12251G>C (p.Arg4084Pro)
c.10337G>C (p.Arg3446Pro)
16g.2090388C>TCA7828677PKD1c.12341G>A (p.Arg4114His)
c.12338G>A (p.Arg4113His)
n.369G>A
c.9296G>A (p.Arg3099His)
c.12419G>A (p.Arg4140His)
c.12416G>A (p.Arg4139His)
c.12401G>A (p.Arg4134His)
c.12395G>A (p.Arg4132His)
c.12392G>A (p.Arg4131His)
c.12365G>A (p.Arg4122His)
c.12347G>A (p.Arg4116His)
c.12293G>A (p.Arg4098His)
c.12212G>A (p.Arg4071His)
c.12155G>A (p.Arg4052His)
c.10241G>A (p.Arg3414His)
c.9419G>A (p.Arg3140His)
n.12259G>A
c.12461G>A (p.Arg4154His)
c.12389G>A (p.Arg4130His)
c.12251G>A (p.Arg4084His)
c.10337G>A (p.Arg3446His)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2090389G>ACA394325254PKD1c.12340C>T (p.Arg4114Cys)
c.12337C>T (p.Arg4113Cys)
n.368C>T
c.9295C>T (p.Arg3099Cys)
c.12418C>T (p.Arg4140Cys)
c.12415C>T (p.Arg4139Cys)
c.12400C>T (p.Arg4134Cys)
c.12394C>T (p.Arg4132Cys)
c.12391C>T (p.Arg4131Cys)
c.12364C>T (p.Arg4122Cys)
c.12346C>T (p.Arg4116Cys)
c.12292C>T (p.Arg4098Cys)
c.12211C>T (p.Arg4071Cys)
c.12154C>T (p.Arg4052Cys)
c.10240C>T (p.Arg3414Cys)
c.9418C>T (p.Arg3140Cys)
n.12258C>T
c.12460C>T (p.Arg4154Cys)
c.12388C>T (p.Arg4130Cys)
c.12250C>T (p.Arg4084Cys)
c.10336C>T (p.Arg3446Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2090389G>CCA394325256PKD1c.12340C>G (p.Arg4114Gly)
c.12337C>G (p.Arg4113Gly)
n.368C>G
c.9295C>G (p.Arg3099Gly)
c.12418C>G (p.Arg4140Gly)
c.12415C>G (p.Arg4139Gly)
c.12400C>G (p.Arg4134Gly)
c.12394C>G (p.Arg4132Gly)
c.12391C>G (p.Arg4131Gly)
c.12364C>G (p.Arg4122Gly)
c.12346C>G (p.Arg4116Gly)
c.12292C>G (p.Arg4098Gly)
c.12211C>G (p.Arg4071Gly)
c.12154C>G (p.Arg4052Gly)
c.10240C>G (p.Arg3414Gly)
c.9418C>G (p.Arg3140Gly)
n.12258C>G
c.12460C>G (p.Arg4154Gly)
c.12388C>G (p.Arg4130Gly)
c.12250C>G (p.Arg4084Gly)
c.10336C>G (p.Arg3446Gly)
16g.2090389G=CA2202041602PKD1c.12340C= (p.Arg4114=)
c.12337C= (p.Arg4113=)
n.368C=
c.9295C= (p.Arg3099=)
c.12418C= (p.Arg4140=)
c.12415C= (p.Arg4139=)
c.12400C= (p.Arg4134=)
c.12394C= (p.Arg4132=)
c.12391C= (p.Arg4131=)
c.12364C= (p.Arg4122=)
c.12346C= (p.Arg4116=)
c.12292C= (p.Arg4098=)
c.12211C= (p.Arg4071=)
c.12154C= (p.Arg4052=)
c.10240C= (p.Arg3414=)
c.9418C= (p.Arg3140=)
n.12258C=
c.12460C= (p.Arg4154=)
c.12388C= (p.Arg4130=)
c.12250C= (p.Arg4084=)
c.10336C= (p.Arg3446=)
16g.2090389G>TCA394325260PKD1c.12340C>A (p.Arg4114Ser)
c.12337C>A (p.Arg4113Ser)
n.368C>A
c.9295C>A (p.Arg3099Ser)
c.12418C>A (p.Arg4140Ser)
c.12415C>A (p.Arg4139Ser)
c.12400C>A (p.Arg4134Ser)
c.12394C>A (p.Arg4132Ser)
c.12391C>A (p.Arg4131Ser)
c.12364C>A (p.Arg4122Ser)
c.12346C>A (p.Arg4116Ser)
c.12292C>A (p.Arg4098Ser)
c.12211C>A (p.Arg4071Ser)
c.12154C>A (p.Arg4052Ser)
c.10240C>A (p.Arg3414Ser)
c.9418C>A (p.Arg3140Ser)
n.12258C>A
c.12460C>A (p.Arg4154Ser)
c.12388C>A (p.Arg4130Ser)
c.12250C>A (p.Arg4084Ser)
c.10336C>A (p.Arg3446Ser)
 gnomAD v4
16g.2090390C>ACA394325264PKD1c.12339G>T (p.Leu4113Phe)
c.12336G>T (p.Leu4112Phe)
n.367G>T
c.9294G>T (p.Leu3098Phe)
c.12417G>T (p.Leu4139Phe)
c.12414G>T (p.Leu4138Phe)
c.12399G>T (p.Leu4133Phe)
c.12393G>T (p.Leu4131Phe)
c.12390G>T (p.Leu4130Phe)
c.12363G>T (p.Leu4121Phe)
c.12345G>T (p.Leu4115Phe)
c.12291G>T (p.Leu4097Phe)
c.12210G>T (p.Leu4070Phe)
c.12153G>T (p.Leu4051Phe)
c.10239G>T (p.Leu3413Phe)
c.9417G>T (p.Leu3139Phe)
n.12257G>T
c.12459G>T (p.Leu4153Phe)
c.12387G>T (p.Leu4129Phe)
c.12249G>T (p.Leu4083Phe)
c.10335G>T (p.Leu3445Phe)
 gnomAD v4
16g.2090390C=CA2202041605PKD1c.12339G= (p.Leu4113=)
c.12336G= (p.Leu4112=)
n.367G=
c.9294G= (p.Leu3098=)
c.12417G= (p.Leu4139=)
c.12414G= (p.Leu4138=)
c.12399G= (p.Leu4133=)
c.12393G= (p.Leu4131=)
c.12390G= (p.Leu4130=)
c.12363G= (p.Leu4121=)
c.12345G= (p.Leu4115=)
c.12291G= (p.Leu4097=)
c.12210G= (p.Leu4070=)
c.12153G= (p.Leu4051=)
c.10239G= (p.Leu3413=)
c.9417G= (p.Leu3139=)
n.12257G=
c.12459G= (p.Leu4153=)
c.12387G= (p.Leu4129=)
c.12249G= (p.Leu4083=)
c.10335G= (p.Leu3445=)
16g.2090390C>GCA394325269PKD1c.12339G>C (p.Leu4113Phe)
c.12336G>C (p.Leu4112Phe)
n.367G>C
c.9294G>C (p.Leu3098Phe)
c.12417G>C (p.Leu4139Phe)
c.12414G>C (p.Leu4138Phe)
c.12399G>C (p.Leu4133Phe)
c.12393G>C (p.Leu4131Phe)
c.12390G>C (p.Leu4130Phe)
c.12363G>C (p.Leu4121Phe)
c.12345G>C (p.Leu4115Phe)
c.12291G>C (p.Leu4097Phe)
c.12210G>C (p.Leu4070Phe)
c.12153G>C (p.Leu4051Phe)
c.10239G>C (p.Leu3413Phe)
c.9417G>C (p.Leu3139Phe)
n.12257G>C
c.12459G>C (p.Leu4153Phe)
c.12387G>C (p.Leu4129Phe)
c.12249G>C (p.Leu4083Phe)
c.10335G>C (p.Leu3445Phe)
16g.2090390C>TCA7828678PKD1c.12339G>A (p.Leu4113=)
c.12336G>A (p.Leu4112=)
n.367G>A
c.9294G>A (p.Leu3098=)
c.12417G>A (p.Leu4139=)
c.12414G>A (p.Leu4138=)
c.12399G>A (p.Leu4133=)
c.12393G>A (p.Leu4131=)
c.12390G>A (p.Leu4130=)
c.12363G>A (p.Leu4121=)
c.12345G>A (p.Leu4115=)
c.12291G>A (p.Leu4097=)
c.12210G>A (p.Leu4070=)
c.12153G>A (p.Leu4051=)
c.10239G>A (p.Leu3413=)
c.9417G>A (p.Leu3139=)
n.12257G>A
c.12459G>A (p.Leu4153=)
c.12387G>A (p.Leu4129=)
c.12249G>A (p.Leu4083=)
c.10335G>A (p.Leu3445=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2090391A=CA2202041607PKD1c.12338T= (p.Leu4113=)
c.12335T= (p.Leu4112=)
n.366T=
c.9293T= (p.Leu3098=)
c.12416T= (p.Leu4139=)
c.12413T= (p.Leu4138=)
c.12398T= (p.Leu4133=)
c.12392T= (p.Leu4131=)
c.12389T= (p.Leu4130=)
c.12362T= (p.Leu4121=)
c.12344T= (p.Leu4115=)
c.12290T= (p.Leu4097=)
c.12209T= (p.Leu4070=)
c.12152T= (p.Leu4051=)
c.10238T= (p.Leu3413=)
c.9416T= (p.Leu3139=)
n.12256T=
c.12458T= (p.Leu4153=)
c.12386T= (p.Leu4129=)
c.12248T= (p.Leu4083=)
c.10334T= (p.Leu3445=)
16g.2090391A>CCA394325275PKD1c.12338T>G (p.Leu4113Trp)
c.12335T>G (p.Leu4112Trp)
n.366T>G
c.9293T>G (p.Leu3098Trp)
c.12416T>G (p.Leu4139Trp)
c.12413T>G (p.Leu4138Trp)
c.12398T>G (p.Leu4133Trp)
c.12392T>G (p.Leu4131Trp)
c.12389T>G (p.Leu4130Trp)
c.12362T>G (p.Leu4121Trp)
c.12344T>G (p.Leu4115Trp)
c.12290T>G (p.Leu4097Trp)
c.12209T>G (p.Leu4070Trp)
c.12152T>G (p.Leu4051Trp)
c.10238T>G (p.Leu3413Trp)
c.9416T>G (p.Leu3139Trp)
n.12256T>G
c.12458T>G (p.Leu4153Trp)
c.12386T>G (p.Leu4129Trp)
c.12248T>G (p.Leu4083Trp)
c.10334T>G (p.Leu3445Trp)
16g.2090391A>GCA7828679PKD1c.12338T>C (p.Leu4113Ser)
c.12335T>C (p.Leu4112Ser)
n.366T>C
c.9293T>C (p.Leu3098Ser)
c.12416T>C (p.Leu4139Ser)
c.12413T>C (p.Leu4138Ser)
c.12398T>C (p.Leu4133Ser)
c.12392T>C (p.Leu4131Ser)
c.12389T>C (p.Leu4130Ser)
c.12362T>C (p.Leu4121Ser)
c.12344T>C (p.Leu4115Ser)
c.12290T>C (p.Leu4097Ser)
c.12209T>C (p.Leu4070Ser)
c.12152T>C (p.Leu4051Ser)
c.10238T>C (p.Leu3413Ser)
c.9416T>C (p.Leu3139Ser)
n.12256T>C
c.12458T>C (p.Leu4153Ser)
c.12386T>C (p.Leu4129Ser)
c.12248T>C (p.Leu4083Ser)
c.10334T>C (p.Leu3445Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090391A>TCA394325273PKD1c.12338T>A (p.Leu4113Ter)
c.12335T>A (p.Leu4112Ter)
n.366T>A
c.9293T>A (p.Leu3098Ter)
c.12416T>A (p.Leu4139Ter)
c.12413T>A (p.Leu4138Ter)
c.12398T>A (p.Leu4133Ter)
c.12392T>A (p.Leu4131Ter)
c.12389T>A (p.Leu4130Ter)
c.12362T>A (p.Leu4121Ter)
c.12344T>A (p.Leu4115Ter)
c.12290T>A (p.Leu4097Ter)
c.12209T>A (p.Leu4070Ter)
c.12152T>A (p.Leu4051Ter)
c.10238T>A (p.Leu3413Ter)
c.9416T>A (p.Leu3139Ter)
n.12256T>A
c.12458T>A (p.Leu4153Ter)
c.12386T>A (p.Leu4129Ter)
c.12248T>A (p.Leu4083Ter)
c.10334T>A (p.Leu3445Ter)
16g.2090392A=CA2202041613PKD1c.12337T= (p.Leu4113=)
c.12334T= (p.Leu4112=)
n.365T=
c.9292T= (p.Leu3098=)
c.12415T= (p.Leu4139=)
c.12412T= (p.Leu4138=)
c.12397T= (p.Leu4133=)
c.12391T= (p.Leu4131=)
c.12388T= (p.Leu4130=)
c.12361T= (p.Leu4121=)
c.12343T= (p.Leu4115=)
c.12289T= (p.Leu4097=)
c.12208T= (p.Leu4070=)
c.12151T= (p.Leu4051=)
c.10237T= (p.Leu3413=)
c.9415T= (p.Leu3139=)
n.12255T=
c.12457T= (p.Leu4153=)
c.12385T= (p.Leu4129=)
c.12247T= (p.Leu4083=)
c.10333T= (p.Leu3445=)
16g.2090392A>CCA394325282PKD1c.12337T>G (p.Leu4113Val)
c.12334T>G (p.Leu4112Val)
n.365T>G
c.9292T>G (p.Leu3098Val)
c.12415T>G (p.Leu4139Val)
c.12412T>G (p.Leu4138Val)
c.12397T>G (p.Leu4133Val)
c.12391T>G (p.Leu4131Val)
c.12388T>G (p.Leu4130Val)
c.12361T>G (p.Leu4121Val)
c.12343T>G (p.Leu4115Val)
c.12289T>G (p.Leu4097Val)
c.12208T>G (p.Leu4070Val)
c.12151T>G (p.Leu4051Val)
c.10237T>G (p.Leu3413Val)
c.9415T>G (p.Leu3139Val)
n.12255T>G
c.12457T>G (p.Leu4153Val)
c.12385T>G (p.Leu4129Val)
c.12247T>G (p.Leu4083Val)
c.10333T>G (p.Leu3445Val)
16g.2090392A>GCA493044336PKD1c.12337T>C (p.Leu4113=)
c.12334T>C (p.Leu4112=)
n.365T>C
c.9292T>C (p.Leu3098=)
c.12415T>C (p.Leu4139=)
c.12412T>C (p.Leu4138=)
c.12397T>C (p.Leu4133=)
c.12391T>C (p.Leu4131=)
c.12388T>C (p.Leu4130=)
c.12361T>C (p.Leu4121=)
c.12343T>C (p.Leu4115=)
c.12289T>C (p.Leu4097=)
c.12208T>C (p.Leu4070=)
c.12151T>C (p.Leu4051=)
c.10237T>C (p.Leu3413=)
c.9415T>C (p.Leu3139=)
n.12255T>C
c.12457T>C (p.Leu4153=)
c.12385T>C (p.Leu4129=)
c.12247T>C (p.Leu4083=)
c.10333T>C (p.Leu3445=)
 dbSNP gnomAD v4
16g.2090392A>TCA394325285PKD1c.12337T>A (p.Leu4113Met)
c.12334T>A (p.Leu4112Met)
n.365T>A
c.9292T>A (p.Leu3098Met)
c.12415T>A (p.Leu4139Met)
c.12412T>A (p.Leu4138Met)
c.12397T>A (p.Leu4133Met)
c.12391T>A (p.Leu4131Met)
c.12388T>A (p.Leu4130Met)
c.12361T>A (p.Leu4121Met)
c.12343T>A (p.Leu4115Met)
c.12289T>A (p.Leu4097Met)
c.12208T>A (p.Leu4070Met)
c.12151T>A (p.Leu4051Met)
c.10237T>A (p.Leu3413Met)
c.9415T>A (p.Leu3139Met)
n.12255T>A
c.12457T>A (p.Leu4153Met)
c.12385T>A (p.Leu4129Met)
c.12247T>A (p.Leu4083Met)
c.10333T>A (p.Leu3445Met)
16g.2090392_2090393delinsAGCA2202041616PKD1c.12336_12337delinsCT (p.Ala4112=)
c.12333_12334delinsCT (p.Ala4111=)
n.364_365delinsCT
c.9291_9292delinsCT (p.Ala3097=)
c.12414_12415delinsCT (p.Ala4138=)
c.12411_12412delinsCT (p.Ala4137=)
c.12396_12397delinsCT (p.Ala4132=)
c.12390_12391delinsCT (p.Ala4130=)
c.12387_12388delinsCT (p.Ala4129=)
c.12360_12361delinsCT (p.Ala4120=)
c.12342_12343delinsCT (p.Ala4114=)
c.12288_12289delinsCT (p.Ala4096=)
c.12207_12208delinsCT (p.Ala4069=)
c.12150_12151delinsCT (p.Ala4050=)
c.10236_10237delinsCT (p.Ala3412=)
c.9414_9415delinsCT (p.Ala3138=)
n.12254_12255delinsCT
c.12456_12457delinsCT (p.Ala4152=)
c.12384_12385delinsCT (p.Ala4128=)
c.12246_12247delinsCT (p.Ala4082=)
c.10332_10333delinsCT (p.Ala3444=)
16g.2090393G>ACA7828680PKD1c.12336C>T (p.Ala4112=)
c.12333C>T (p.Ala4111=)
n.364C>T
c.9291C>T (p.Ala3097=)
c.12414C>T (p.Ala4138=)
c.12411C>T (p.Ala4137=)
c.12396C>T (p.Ala4132=)
c.12390C>T (p.Ala4130=)
c.12387C>T (p.Ala4129=)
c.12360C>T (p.Ala4120=)
c.12342C>T (p.Ala4114=)
c.12288C>T (p.Ala4096=)
c.12207C>T (p.Ala4069=)
c.12150C>T (p.Ala4050=)
c.10236C>T (p.Ala3412=)
c.9414C>T (p.Ala3138=)
n.12254C>T
c.12456C>T (p.Ala4152=)
c.12384C>T (p.Ala4128=)
c.12246C>T (p.Ala4082=)
c.10332C>T (p.Ala3444=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090393G>CCA493044338PKD1c.12336C>G (p.Ala4112=)
c.12333C>G (p.Ala4111=)
n.364C>G
c.9291C>G (p.Ala3097=)
c.12414C>G (p.Ala4138=)
c.12411C>G (p.Ala4137=)
c.12396C>G (p.Ala4132=)
c.12390C>G (p.Ala4130=)
c.12387C>G (p.Ala4129=)
c.12360C>G (p.Ala4120=)
c.12342C>G (p.Ala4114=)
c.12288C>G (p.Ala4096=)
c.12207C>G (p.Ala4069=)
c.12150C>G (p.Ala4050=)
c.10236C>G (p.Ala3412=)
c.9414C>G (p.Ala3138=)
n.12254C>G
c.12456C>G (p.Ala4152=)
c.12384C>G (p.Ala4128=)
c.12246C>G (p.Ala4082=)
c.10332C>G (p.Ala3444=)
16g.2090393G=CA2202041625PKD1c.12336C= (p.Ala4112=)
c.12333C= (p.Ala4111=)
n.364C=
c.9291C= (p.Ala3097=)
c.12414C= (p.Ala4138=)
c.12411C= (p.Ala4137=)
c.12396C= (p.Ala4132=)
c.12390C= (p.Ala4130=)
c.12387C= (p.Ala4129=)
c.12360C= (p.Ala4120=)
c.12342C= (p.Ala4114=)
c.12288C= (p.Ala4096=)
c.12207C= (p.Ala4069=)
c.12150C= (p.Ala4050=)
c.10236C= (p.Ala3412=)
c.9414C= (p.Ala3138=)
n.12254C=
c.12456C= (p.Ala4152=)
c.12384C= (p.Ala4128=)
c.12246C= (p.Ala4082=)
c.10332C= (p.Ala3444=)
16g.2090393G>TCA493044339PKD1c.12336C>A (p.Ala4112=)
c.12333C>A (p.Ala4111=)
n.364C>A
c.9291C>A (p.Ala3097=)
c.12414C>A (p.Ala4138=)
c.12411C>A (p.Ala4137=)
c.12396C>A (p.Ala4132=)
c.12390C>A (p.Ala4130=)
c.12387C>A (p.Ala4129=)
c.12360C>A (p.Ala4120=)
c.12342C>A (p.Ala4114=)
c.12288C>A (p.Ala4096=)
c.12207C>A (p.Ala4069=)
c.12150C>A (p.Ala4050=)
c.10236C>A (p.Ala3412=)
c.9414C>A (p.Ala3138=)
n.12254C>A
c.12456C>A (p.Ala4152=)
c.12384C>A (p.Ala4128=)
c.12246C>A (p.Ala4082=)
c.10332C>A (p.Ala3444=)
16g.2090394delCA1139664263PKD1c.12336del (p.Leu4113CysfsTer?)
c.12333del (p.Leu4112CysfsTer?)
n.364del
c.9291del (p.Leu3098CysfsTer?)
c.12414del (p.Leu4139CysfsTer?)
c.12411del (p.Leu4138CysfsTer?)
c.12396del (p.Leu4133CysfsTer?)
c.12390del (p.Leu4131CysfsTer?)
c.12387del (p.Leu4130CysfsTer?)
c.12360del (p.Leu4121CysfsTer?)
c.12342del (p.Leu4115CysfsTer?)
c.12288del (p.Leu4097CysfsTer?)
c.12207del (p.Leu4070CysfsTer?)
c.12150del (p.Leu4051CysfsTer?)
c.10236del (p.Leu3413CysfsTer?)
c.9414del (p.Leu3139CysfsTer?)
n.12254del
c.12456del (p.Leu4153CysfsTer?)
c.12384del (p.Leu4129CysfsTer?)
c.12246del (p.Leu4083CysfsTer?)
c.10332del (p.Leu3445CysfsTer?)
 ClinVar dbSNP
16g.2090393_2090403delinsGGCGTGGTAGCCA2202041627PKD1c.12326_12336delinsGCTACCACGCC (p.Arg4109=)
c.12323_12333delinsGCTACCACGCC (p.Arg4108=)
n.354_364delinsGCTACCACGCC
c.9281_9291delinsGCTACCACGCC (p.Arg3094=)
c.12404_12414delinsGCTACCACGCC (p.Arg4135=)
c.12401_12411delinsGCTACCACGCC (p.Arg4134=)
c.12386_12396delinsGCTACCACGCC (p.Arg4129=)
c.12380_12390delinsGCTACCACGCC (p.Arg4127=)
c.12377_12387delinsGCTACCACGCC (p.Arg4126=)
c.12350_12360delinsGCTACCACGCC (p.Arg4117=)
c.12332_12342delinsGCTACCACGCC (p.Arg4111=)
c.12278_12288delinsGCTACCACGCC (p.Arg4093=)
c.12197_12207delinsGCTACCACGCC (p.Arg4066=)
c.12140_12150delinsGCTACCACGCC (p.Arg4047=)
c.10226_10236delinsGCTACCACGCC (p.Arg3409=)
c.9404_9414delinsGCTACCACGCC (p.Arg3135=)
n.12244_12254delinsGCTACCACGCC
c.12446_12456delinsGCTACCACGCC (p.Arg4149=)
c.12374_12384delinsGCTACCACGCC (p.Arg4125=)
c.12236_12246delinsGCTACCACGCC (p.Arg4079=)
c.10322_10332delinsGCTACCACGCC (p.Arg3441=)
16g.2090394G>ACA394325297PKD1c.12335C>T (p.Ala4112Val)
c.12332C>T (p.Ala4111Val)
n.363C>T
c.9290C>T (p.Ala3097Val)
c.12413C>T (p.Ala4138Val)
c.12410C>T (p.Ala4137Val)
c.12395C>T (p.Ala4132Val)
c.12389C>T (p.Ala4130Val)
c.12386C>T (p.Ala4129Val)
c.12359C>T (p.Ala4120Val)
c.12341C>T (p.Ala4114Val)
c.12287C>T (p.Ala4096Val)
c.12206C>T (p.Ala4069Val)
c.12149C>T (p.Ala4050Val)
c.10235C>T (p.Ala3412Val)
c.9413C>T (p.Ala3138Val)
n.12253C>T
c.12455C>T (p.Ala4152Val)
c.12383C>T (p.Ala4128Val)
c.12245C>T (p.Ala4082Val)
c.10331C>T (p.Ala3444Val)
 dbSNP
16g.2090394G>CCA394325293PKD1c.12335C>G (p.Ala4112Gly)
c.12332C>G (p.Ala4111Gly)
n.363C>G
c.9290C>G (p.Ala3097Gly)
c.12413C>G (p.Ala4138Gly)
c.12410C>G (p.Ala4137Gly)
c.12395C>G (p.Ala4132Gly)
c.12389C>G (p.Ala4130Gly)
c.12386C>G (p.Ala4129Gly)
c.12359C>G (p.Ala4120Gly)
c.12341C>G (p.Ala4114Gly)
c.12287C>G (p.Ala4096Gly)
c.12206C>G (p.Ala4069Gly)
c.12149C>G (p.Ala4050Gly)
c.10235C>G (p.Ala3412Gly)
c.9413C>G (p.Ala3138Gly)
n.12253C>G
c.12455C>G (p.Ala4152Gly)
c.12383C>G (p.Ala4128Gly)
c.12245C>G (p.Ala4082Gly)
c.10331C>G (p.Ala3444Gly)
 dbSNP gnomAD v4
16g.2090394G=CA2202041633PKD1c.12335C= (p.Ala4112=)
c.12332C= (p.Ala4111=)
n.363C=
c.9290C= (p.Ala3097=)
c.12413C= (p.Ala4138=)
c.12410C= (p.Ala4137=)
c.12395C= (p.Ala4132=)
c.12389C= (p.Ala4130=)
c.12386C= (p.Ala4129=)
c.12359C= (p.Ala4120=)
c.12341C= (p.Ala4114=)
c.12287C= (p.Ala4096=)
c.12206C= (p.Ala4069=)
c.12149C= (p.Ala4050=)
c.10235C= (p.Ala3412=)
c.9413C= (p.Ala3138=)
n.12253C=
c.12455C= (p.Ala4152=)
c.12383C= (p.Ala4128=)
c.12245C= (p.Ala4082=)
c.10331C= (p.Ala3444=)
16g.2090394G>TCA394325300PKD1c.12335C>A (p.Ala4112Asp)
c.12332C>A (p.Ala4111Asp)
n.363C>A
c.9290C>A (p.Ala3097Asp)
c.12413C>A (p.Ala4138Asp)
c.12410C>A (p.Ala4137Asp)
c.12395C>A (p.Ala4132Asp)
c.12389C>A (p.Ala4130Asp)
c.12386C>A (p.Ala4129Asp)
c.12359C>A (p.Ala4120Asp)
c.12341C>A (p.Ala4114Asp)
c.12287C>A (p.Ala4096Asp)
c.12206C>A (p.Ala4069Asp)
c.12149C>A (p.Ala4050Asp)
c.10235C>A (p.Ala3412Asp)
c.9413C>A (p.Ala3138Asp)
n.12253C>A
c.12455C>A (p.Ala4152Asp)
c.12383C>A (p.Ala4128Asp)
c.12245C>A (p.Ala4082Asp)
c.10331C>A (p.Ala3444Asp)
16g.2090396_2090405delCA916079844PKD1c.12326_12335del (p.Arg4109ProfsTer?)
c.12323_12332del (p.Arg4108ProfsTer?)
n.354_363del
c.9281_9290del (p.Arg3094ProfsTer?)
c.12404_12413del (p.Arg4135ProfsTer?)
c.12401_12410del (p.Arg4134ProfsTer?)
c.12386_12395del (p.Arg4129ProfsTer?)
c.12380_12389del (p.Arg4127ProfsTer?)
c.12377_12386del (p.Arg4126ProfsTer?)
c.12350_12359del (p.Arg4117ProfsTer?)
c.12332_12341del (p.Arg4111ProfsTer?)
c.12278_12287del (p.Arg4093ProfsTer?)
c.12197_12206del (p.Arg4066ProfsTer?)
c.12140_12149del (p.Arg4047ProfsTer?)
c.10226_10235del (p.Arg3409ProfsTer?)
c.9404_9413del (p.Arg3135ProfsTer?)
n.12244_12253del
c.12446_12455del (p.Arg4149ProfsTer?)
c.12374_12383del (p.Arg4125ProfsTer?)
c.12236_12245del (p.Arg4079ProfsTer?)
c.10322_10331del (p.Arg3441ProfsTer?)
 ClinVar dbSNP
16g.2090395C>ACA7828681PKD1c.12334G>T (p.Ala4112Ser)
c.12331G>T (p.Ala4111Ser)
n.362G>T
c.9289G>T (p.Ala3097Ser)
c.12412G>T (p.Ala4138Ser)
c.12409G>T (p.Ala4137Ser)
c.12394G>T (p.Ala4132Ser)
c.12388G>T (p.Ala4130Ser)
c.12385G>T (p.Ala4129Ser)
c.12358G>T (p.Ala4120Ser)
c.12340G>T (p.Ala4114Ser)
c.12286G>T (p.Ala4096Ser)
c.12205G>T (p.Ala4069Ser)
c.12148G>T (p.Ala4050Ser)
c.10234G>T (p.Ala3412Ser)
c.9412G>T (p.Ala3138Ser)
n.12252G>T
c.12454G>T (p.Ala4152Ser)
c.12382G>T (p.Ala4128Ser)
c.12244G>T (p.Ala4082Ser)
c.10330G>T (p.Ala3444Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2090395C=CA2202041636PKD1c.12334G= (p.Ala4112=)
c.12331G= (p.Ala4111=)
n.362G=
c.9289G= (p.Ala3097=)
c.12412G= (p.Ala4138=)
c.12409G= (p.Ala4137=)
c.12394G= (p.Ala4132=)
c.12388G= (p.Ala4130=)
c.12385G= (p.Ala4129=)
c.12358G= (p.Ala4120=)
c.12340G= (p.Ala4114=)
c.12286G= (p.Ala4096=)
c.12205G= (p.Ala4069=)
c.12148G= (p.Ala4050=)
c.10234G= (p.Ala3412=)
c.9412G= (p.Ala3138=)
n.12252G=
c.12454G= (p.Ala4152=)
c.12382G= (p.Ala4128=)
c.12244G= (p.Ala4082=)
c.10330G= (p.Ala3444=)
16g.2090395C>GCA394325308PKD1c.12334G>C (p.Ala4112Pro)
c.12331G>C (p.Ala4111Pro)
n.362G>C
c.9289G>C (p.Ala3097Pro)
c.12412G>C (p.Ala4138Pro)
c.12409G>C (p.Ala4137Pro)
c.12394G>C (p.Ala4132Pro)
c.12388G>C (p.Ala4130Pro)
c.12385G>C (p.Ala4129Pro)
c.12358G>C (p.Ala4120Pro)
c.12340G>C (p.Ala4114Pro)
c.12286G>C (p.Ala4096Pro)
c.12205G>C (p.Ala4069Pro)
c.12148G>C (p.Ala4050Pro)
c.10234G>C (p.Ala3412Pro)
c.9412G>C (p.Ala3138Pro)
n.12252G>C
c.12454G>C (p.Ala4152Pro)
c.12382G>C (p.Ala4128Pro)
c.12244G>C (p.Ala4082Pro)
c.10330G>C (p.Ala3444Pro)
 ClinVar gnomAD v4
16g.2090395C>TCA394325311PKD1c.12334G>A (p.Ala4112Thr)
c.12331G>A (p.Ala4111Thr)
n.362G>A
c.9289G>A (p.Ala3097Thr)
c.12412G>A (p.Ala4138Thr)
c.12409G>A (p.Ala4137Thr)
c.12394G>A (p.Ala4132Thr)
c.12388G>A (p.Ala4130Thr)
c.12385G>A (p.Ala4129Thr)
c.12358G>A (p.Ala4120Thr)
c.12340G>A (p.Ala4114Thr)
c.12286G>A (p.Ala4096Thr)
c.12205G>A (p.Ala4069Thr)
c.12148G>A (p.Ala4050Thr)
c.10234G>A (p.Ala3412Thr)
c.9412G>A (p.Ala3138Thr)
n.12252G>A
c.12454G>A (p.Ala4152Thr)
c.12382G>A (p.Ala4128Thr)
c.12244G>A (p.Ala4082Thr)
c.10330G>A (p.Ala3444Thr)
 dbSNP gnomAD v3 gnomAD v4
16g.2090395_2090396insCCCA2580612736PKD1c.12334_12335insGG (p.Ala4112GlyfsTer?)
c.12331_12332insGG (p.Ala4111GlyfsTer?)
n.362_363insGG
c.9289_9290insGG (p.Ala3097GlyfsTer?)
c.12412_12413insGG (p.Ala4138GlyfsTer?)
c.12409_12410insGG (p.Ala4137GlyfsTer?)
c.12394_12395insGG (p.Ala4132GlyfsTer?)
c.12388_12389insGG (p.Ala4130GlyfsTer?)
c.12385_12386insGG (p.Ala4129GlyfsTer?)
c.12358_12359insGG (p.Ala4120GlyfsTer?)
c.12340_12341insGG (p.Ala4114GlyfsTer?)
c.12286_12287insGG (p.Ala4096GlyfsTer?)
c.12205_12206insGG (p.Ala4069GlyfsTer?)
c.12148_12149insGG (p.Ala4050GlyfsTer?)
c.10234_10235insGG (p.Ala3412GlyfsTer?)
c.9412_9413insGG (p.Ala3138GlyfsTer?)
n.12252_12253insGG
c.12454_12455insGG (p.Ala4152GlyfsTer?)
c.12382_12383insGG (p.Ala4128GlyfsTer?)
c.12244_12245insGG (p.Ala4082GlyfsTer?)
c.10330_10331insGG (p.Ala3444GlyfsTer?)
 ClinVar
16g.2090396G>ACA276764053PKD1c.12333C>T (p.His4111=)
c.12330C>T (p.His4110=)
n.361C>T
c.9288C>T (p.His3096=)
c.12411C>T (p.His4137=)
c.12408C>T (p.His4136=)
c.12393C>T (p.His4131=)
c.12387C>T (p.His4129=)
c.12384C>T (p.His4128=)
c.12357C>T (p.His4119=)
c.12339C>T (p.His4113=)
c.12285C>T (p.His4095=)
c.12204C>T (p.His4068=)
c.12147C>T (p.His4049=)
c.10233C>T (p.His3411=)
c.9411C>T (p.His3137=)
n.12251C>T
c.12453C>T (p.His4151=)
c.12381C>T (p.His4127=)
c.12243C>T (p.His4081=)
c.10329C>T (p.His3443=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2090396G>CCA394325317PKD1c.12333C>G (p.His4111Gln)
c.12330C>G (p.His4110Gln)
n.361C>G
c.9288C>G (p.His3096Gln)
c.12411C>G (p.His4137Gln)
c.12408C>G (p.His4136Gln)
c.12393C>G (p.His4131Gln)
c.12387C>G (p.His4129Gln)
c.12384C>G (p.His4128Gln)
c.12357C>G (p.His4119Gln)
c.12339C>G (p.His4113Gln)
c.12285C>G (p.His4095Gln)
c.12204C>G (p.His4068Gln)
c.12147C>G (p.His4049Gln)
c.10233C>G (p.His3411Gln)
c.9411C>G (p.His3137Gln)
n.12251C>G
c.12453C>G (p.His4151Gln)
c.12381C>G (p.His4127Gln)
c.12243C>G (p.His4081Gln)
c.10329C>G (p.His3443Gln)
 gnomAD v4
16g.2090396G=CA2202041640PKD1c.12333C= (p.His4111=)
c.12330C= (p.His4110=)
n.361C=
c.9288C= (p.His3096=)
c.12411C= (p.His4137=)
c.12408C= (p.His4136=)
c.12393C= (p.His4131=)
c.12387C= (p.His4129=)
c.12384C= (p.His4128=)
c.12357C= (p.His4119=)
c.12339C= (p.His4113=)
c.12285C= (p.His4095=)
c.12204C= (p.His4068=)
c.12147C= (p.His4049=)
c.10233C= (p.His3411=)
c.9411C= (p.His3137=)
n.12251C=
c.12453C= (p.His4151=)
c.12381C= (p.His4127=)
c.12243C= (p.His4081=)
c.10329C= (p.His3443=)
16g.2090396G>TCA394325331PKD1c.12333C>A (p.His4111Gln)
c.12330C>A (p.His4110Gln)
n.361C>A
c.9288C>A (p.His3096Gln)
c.12411C>A (p.His4137Gln)
c.12408C>A (p.His4136Gln)
c.12393C>A (p.His4131Gln)
c.12387C>A (p.His4129Gln)
c.12384C>A (p.His4128Gln)
c.12357C>A (p.His4119Gln)
c.12339C>A (p.His4113Gln)
c.12285C>A (p.His4095Gln)
c.12204C>A (p.His4068Gln)
c.12147C>A (p.His4049Gln)
c.10233C>A (p.His3411Gln)
c.9411C>A (p.His3137Gln)
n.12251C>A
c.12453C>A (p.His4151Gln)
c.12381C>A (p.His4127Gln)
c.12243C>A (p.His4081Gln)
c.10329C>A (p.His3443Gln)
16g.2090397delCA2631135076PKD1c.12332del (p.His4111ProfsTer?)
c.12329del (p.His4110ProfsTer?)
n.360del
c.9287del (p.His3096ProfsTer?)
c.12410del (p.His4137ProfsTer?)
c.12407del (p.His4136ProfsTer?)
c.12392del (p.His4131ProfsTer?)
c.12386del (p.His4129ProfsTer?)
c.12383del (p.His4128ProfsTer?)
c.12356del (p.His4119ProfsTer?)
c.12338del (p.His4113ProfsTer?)
c.12284del (p.His4095ProfsTer?)
c.12203del (p.His4068ProfsTer?)
c.12146del (p.His4049ProfsTer?)
c.10232del (p.His3411ProfsTer?)
c.9410del (p.His3137ProfsTer?)
n.12250del
c.12452del (p.His4151ProfsTer?)
c.12380del (p.His4127ProfsTer?)
c.12242del (p.His4081ProfsTer?)
c.10328del (p.His3443ProfsTer?)
 gnomAD v4
16g.2090397T>ACA394325335PKD1c.12332A>T (p.His4111Leu)
c.12329A>T (p.His4110Leu)
n.360A>T
c.9287A>T (p.His3096Leu)
c.12410A>T (p.His4137Leu)
c.12407A>T (p.His4136Leu)
c.12392A>T (p.His4131Leu)
c.12386A>T (p.His4129Leu)
c.12383A>T (p.His4128Leu)
c.12356A>T (p.His4119Leu)
c.12338A>T (p.His4113Leu)
c.12284A>T (p.His4095Leu)
c.12203A>T (p.His4068Leu)
c.12146A>T (p.His4049Leu)
c.10232A>T (p.His3411Leu)
c.9410A>T (p.His3137Leu)
n.12250A>T
c.12452A>T (p.His4151Leu)
c.12380A>T (p.His4127Leu)
c.12242A>T (p.His4081Leu)
c.10328A>T (p.His3443Leu)
16g.2090397T>CCA394325337PKD1c.12332A>G (p.His4111Arg)
c.12329A>G (p.His4110Arg)
n.360A>G
c.9287A>G (p.His3096Arg)
c.12410A>G (p.His4137Arg)
c.12407A>G (p.His4136Arg)
c.12392A>G (p.His4131Arg)
c.12386A>G (p.His4129Arg)
c.12383A>G (p.His4128Arg)
c.12356A>G (p.His4119Arg)
c.12338A>G (p.His4113Arg)
c.12284A>G (p.His4095Arg)
c.12203A>G (p.His4068Arg)
c.12146A>G (p.His4049Arg)
c.10232A>G (p.His3411Arg)
c.9410A>G (p.His3137Arg)
n.12250A>G
c.12452A>G (p.His4151Arg)
c.12380A>G (p.His4127Arg)
c.12242A>G (p.His4081Arg)
c.10328A>G (p.His3443Arg)
 dbSNP gnomAD v2 gnomAD v4
16g.2090397T>GCA394325342PKD1c.12332A>C (p.His4111Pro)
c.12329A>C (p.His4110Pro)
n.360A>C
c.9287A>C (p.His3096Pro)
c.12410A>C (p.His4137Pro)
c.12407A>C (p.His4136Pro)
c.12392A>C (p.His4131Pro)
c.12386A>C (p.His4129Pro)
c.12383A>C (p.His4128Pro)
c.12356A>C (p.His4119Pro)
c.12338A>C (p.His4113Pro)
c.12284A>C (p.His4095Pro)
c.12203A>C (p.His4068Pro)
c.12146A>C (p.His4049Pro)
c.10232A>C (p.His3411Pro)
c.9410A>C (p.His3137Pro)
n.12250A>C
c.12452A>C (p.His4151Pro)
c.12380A>C (p.His4127Pro)
c.12242A>C (p.His4081Pro)
c.10328A>C (p.His3443Pro)
16g.2090397T=CA2202041645PKD1c.12332A= (p.His4111=)
c.12329A= (p.His4110=)
n.360A=
c.9287A= (p.His3096=)
c.12410A= (p.His4137=)
c.12407A= (p.His4136=)
c.12392A= (p.His4131=)
c.12386A= (p.His4129=)
c.12383A= (p.His4128=)
c.12356A= (p.His4119=)
c.12338A= (p.His4113=)
c.12284A= (p.His4095=)
c.12203A= (p.His4068=)
c.12146A= (p.His4049=)
c.10232A= (p.His3411=)
c.9410A= (p.His3137=)
n.12250A=
c.12452A= (p.His4151=)
c.12380A= (p.His4127=)
c.12242A= (p.His4081=)
c.10328A= (p.His3443=)
16g.2090398G>ACA394325346PKD1c.12331C>T (p.His4111Tyr)
c.12328C>T (p.His4110Tyr)
n.359C>T
c.9286C>T (p.His3096Tyr)
c.12409C>T (p.His4137Tyr)
c.12406C>T (p.His4136Tyr)
c.12391C>T (p.His4131Tyr)
c.12385C>T (p.His4129Tyr)
c.12382C>T (p.His4128Tyr)
c.12355C>T (p.His4119Tyr)
c.12337C>T (p.His4113Tyr)
c.12283C>T (p.His4095Tyr)
c.12202C>T (p.His4068Tyr)
c.12145C>T (p.His4049Tyr)
c.10231C>T (p.His3411Tyr)
c.9409C>T (p.His3137Tyr)
n.12249C>T
c.12451C>T (p.His4151Tyr)
c.12379C>T (p.His4127Tyr)
c.12241C>T (p.His4081Tyr)
c.10327C>T (p.His3443Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2090398G>CCA394325349PKD1c.12331C>G (p.His4111Asp)
c.12328C>G (p.His4110Asp)
n.359C>G
c.9286C>G (p.His3096Asp)
c.12409C>G (p.His4137Asp)
c.12406C>G (p.His4136Asp)
c.12391C>G (p.His4131Asp)
c.12385C>G (p.His4129Asp)
c.12382C>G (p.His4128Asp)
c.12355C>G (p.His4119Asp)
c.12337C>G (p.His4113Asp)
c.12283C>G (p.His4095Asp)
c.12202C>G (p.His4068Asp)
c.12145C>G (p.His4049Asp)
c.10231C>G (p.His3411Asp)
c.9409C>G (p.His3137Asp)
n.12249C>G
c.12451C>G (p.His4151Asp)
c.12379C>G (p.His4127Asp)
c.12241C>G (p.His4081Asp)
c.10327C>G (p.His3443Asp)
 dbSNP gnomAD v3 gnomAD v4
16g.2090398G=CA2202041651PKD1c.12331C= (p.His4111=)
c.12328C= (p.His4110=)
n.359C=
c.9286C= (p.His3096=)
c.12409C= (p.His4137=)
c.12406C= (p.His4136=)
c.12391C= (p.His4131=)
c.12385C= (p.His4129=)
c.12382C= (p.His4128=)
c.12355C= (p.His4119=)
c.12337C= (p.His4113=)
c.12283C= (p.His4095=)
c.12202C= (p.His4068=)
c.12145C= (p.His4049=)
c.10231C= (p.His3411=)
c.9409C= (p.His3137=)
n.12249C=
c.12451C= (p.His4151=)
c.12379C= (p.His4127=)
c.12241C= (p.His4081=)
c.10327C= (p.His3443=)
16g.2090398G>TCA394325352PKD1c.12331C>A (p.His4111Asn)
c.12328C>A (p.His4110Asn)
n.359C>A
c.9286C>A (p.His3096Asn)
c.12409C>A (p.His4137Asn)
c.12406C>A (p.His4136Asn)
c.12391C>A (p.His4131Asn)
c.12385C>A (p.His4129Asn)
c.12382C>A (p.His4128Asn)
c.12355C>A (p.His4119Asn)
c.12337C>A (p.His4113Asn)
c.12283C>A (p.His4095Asn)
c.12202C>A (p.His4068Asn)
c.12145C>A (p.His4049Asn)
c.10231C>A (p.His3411Asn)
c.9409C>A (p.His3137Asn)
n.12249C>A
c.12451C>A (p.His4151Asn)
c.12379C>A (p.His4127Asn)
c.12241C>A (p.His4081Asn)
c.10327C>A (p.His3443Asn)
16g.2090399G>ACA276764055PKD1c.12330C>T (p.Tyr4110=)
c.12327C>T (p.Tyr4109=)
n.358C>T
c.9285C>T (p.Tyr3095=)
c.12408C>T (p.Tyr4136=)
c.12405C>T (p.Tyr4135=)
c.12390C>T (p.Tyr4130=)
c.12384C>T (p.Tyr4128=)
c.12381C>T (p.Tyr4127=)
c.12354C>T (p.Tyr4118=)
c.12336C>T (p.Tyr4112=)
c.12282C>T (p.Tyr4094=)
c.12201C>T (p.Tyr4067=)
c.12144C>T (p.Tyr4048=)
c.10230C>T (p.Tyr3410=)
c.9408C>T (p.Tyr3136=)
n.12248C>T
c.12450C>T (p.Tyr4150=)
c.12378C>T (p.Tyr4126=)
c.12240C>T (p.Tyr4080=)
c.10326C>T (p.Tyr3442=)
 dbSNP gnomAD v4
16g.2090399G>CCA394325362PKD1c.12330C>G (p.Tyr4110Ter)
c.12327C>G (p.Tyr4109Ter)
n.358C>G
c.9285C>G (p.Tyr3095Ter)
c.12408C>G (p.Tyr4136Ter)
c.12405C>G (p.Tyr4135Ter)
c.12390C>G (p.Tyr4130Ter)
c.12384C>G (p.Tyr4128Ter)
c.12381C>G (p.Tyr4127Ter)
c.12354C>G (p.Tyr4118Ter)
c.12336C>G (p.Tyr4112Ter)
c.12282C>G (p.Tyr4094Ter)
c.12201C>G (p.Tyr4067Ter)
c.12144C>G (p.Tyr4048Ter)
c.10230C>G (p.Tyr3410Ter)
c.9408C>G (p.Tyr3136Ter)
n.12248C>G
c.12450C>G (p.Tyr4150Ter)
c.12378C>G (p.Tyr4126Ter)
c.12240C>G (p.Tyr4080Ter)
c.10326C>G (p.Tyr3442Ter)
16g.2090399G=CA2202041654PKD1c.12330C= (p.Tyr4110=)
c.12327C= (p.Tyr4109=)
n.358C=
c.9285C= (p.Tyr3095=)
c.12408C= (p.Tyr4136=)
c.12405C= (p.Tyr4135=)
c.12390C= (p.Tyr4130=)
c.12384C= (p.Tyr4128=)
c.12381C= (p.Tyr4127=)
c.12354C= (p.Tyr4118=)
c.12336C= (p.Tyr4112=)
c.12282C= (p.Tyr4094=)
c.12201C= (p.Tyr4067=)
c.12144C= (p.Tyr4048=)
c.10230C= (p.Tyr3410=)
c.9408C= (p.Tyr3136=)
n.12248C=
c.12450C= (p.Tyr4150=)
c.12378C= (p.Tyr4126=)
c.12240C= (p.Tyr4080=)
c.10326C= (p.Tyr3442=)
16g.2090399G>TCA394325357PKD1c.12330C>A (p.Tyr4110Ter)
c.12327C>A (p.Tyr4109Ter)
n.358C>A
c.9285C>A (p.Tyr3095Ter)
c.12408C>A (p.Tyr4136Ter)
c.12405C>A (p.Tyr4135Ter)
c.12390C>A (p.Tyr4130Ter)
c.12384C>A (p.Tyr4128Ter)
c.12381C>A (p.Tyr4127Ter)
c.12354C>A (p.Tyr4118Ter)
c.12336C>A (p.Tyr4112Ter)
c.12282C>A (p.Tyr4094Ter)
c.12201C>A (p.Tyr4067Ter)
c.12144C>A (p.Tyr4048Ter)
c.10230C>A (p.Tyr3410Ter)
c.9408C>A (p.Tyr3136Ter)
n.12248C>A
c.12450C>A (p.Tyr4150Ter)
c.12378C>A (p.Tyr4126Ter)
c.12240C>A (p.Tyr4080Ter)
c.10326C>A (p.Tyr3442Ter)
16g.2090400T>ACA7828682PKD1c.12329A>T (p.Tyr4110Phe)
c.12326A>T (p.Tyr4109Phe)
n.357A>T
c.9284A>T (p.Tyr3095Phe)
c.12407A>T (p.Tyr4136Phe)
c.12404A>T (p.Tyr4135Phe)
c.12389A>T (p.Tyr4130Phe)
c.12383A>T (p.Tyr4128Phe)
c.12380A>T (p.Tyr4127Phe)
c.12353A>T (p.Tyr4118Phe)
c.12335A>T (p.Tyr4112Phe)
c.12281A>T (p.Tyr4094Phe)
c.12200A>T (p.Tyr4067Phe)
c.12143A>T (p.Tyr4048Phe)
c.10229A>T (p.Tyr3410Phe)
c.9407A>T (p.Tyr3136Phe)
n.12247A>T
c.12449A>T (p.Tyr4150Phe)
c.12377A>T (p.Tyr4126Phe)
c.12239A>T (p.Tyr4080Phe)
c.10325A>T (p.Tyr3442Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090400T>CCA394325371PKD1c.12329A>G (p.Tyr4110Cys)
c.12326A>G (p.Tyr4109Cys)
n.357A>G
c.9284A>G (p.Tyr3095Cys)
c.12407A>G (p.Tyr4136Cys)
c.12404A>G (p.Tyr4135Cys)
c.12389A>G (p.Tyr4130Cys)
c.12383A>G (p.Tyr4128Cys)
c.12380A>G (p.Tyr4127Cys)
c.12353A>G (p.Tyr4118Cys)
c.12335A>G (p.Tyr4112Cys)
c.12281A>G (p.Tyr4094Cys)
c.12200A>G (p.Tyr4067Cys)
c.12143A>G (p.Tyr4048Cys)
c.10229A>G (p.Tyr3410Cys)
c.9407A>G (p.Tyr3136Cys)
n.12247A>G
c.12449A>G (p.Tyr4150Cys)
c.12377A>G (p.Tyr4126Cys)
c.12239A>G (p.Tyr4080Cys)
c.10325A>G (p.Tyr3442Cys)
16g.2090400T>GCA394325373PKD1c.12329A>C (p.Tyr4110Ser)
c.12326A>C (p.Tyr4109Ser)
n.357A>C
c.9284A>C (p.Tyr3095Ser)
c.12407A>C (p.Tyr4136Ser)
c.12404A>C (p.Tyr4135Ser)
c.12389A>C (p.Tyr4130Ser)
c.12383A>C (p.Tyr4128Ser)
c.12380A>C (p.Tyr4127Ser)
c.12353A>C (p.Tyr4118Ser)
c.12335A>C (p.Tyr4112Ser)
c.12281A>C (p.Tyr4094Ser)
c.12200A>C (p.Tyr4067Ser)
c.12143A>C (p.Tyr4048Ser)
c.10229A>C (p.Tyr3410Ser)
c.9407A>C (p.Tyr3136Ser)
n.12247A>C
c.12449A>C (p.Tyr4150Ser)
c.12377A>C (p.Tyr4126Ser)
c.12239A>C (p.Tyr4080Ser)
c.10325A>C (p.Tyr3442Ser)
16g.2090400T=CA2202041657PKD1c.12329A= (p.Tyr4110=)
c.12326A= (p.Tyr4109=)
n.357A=
c.9284A= (p.Tyr3095=)
c.12407A= (p.Tyr4136=)
c.12404A= (p.Tyr4135=)
c.12389A= (p.Tyr4130=)
c.12383A= (p.Tyr4128=)
c.12380A= (p.Tyr4127=)
c.12353A= (p.Tyr4118=)
c.12335A= (p.Tyr4112=)
c.12281A= (p.Tyr4094=)
c.12200A= (p.Tyr4067=)
c.12143A= (p.Tyr4048=)
c.10229A= (p.Tyr3410=)
c.9407A= (p.Tyr3136=)
n.12247A=
c.12449A= (p.Tyr4150=)
c.12377A= (p.Tyr4126=)
c.12239A= (p.Tyr4080=)
c.10325A= (p.Tyr3442=)
16g.2090401A=CA2202041658PKD1c.12328T= (p.Tyr4110=)
c.12325T= (p.Tyr4109=)
n.356T=
c.9283T= (p.Tyr3095=)
c.12406T= (p.Tyr4136=)
c.12403T= (p.Tyr4135=)
c.12388T= (p.Tyr4130=)
c.12382T= (p.Tyr4128=)
c.12379T= (p.Tyr4127=)
c.12352T= (p.Tyr4118=)
c.12334T= (p.Tyr4112=)
c.12280T= (p.Tyr4094=)
c.12199T= (p.Tyr4067=)
c.12142T= (p.Tyr4048=)
c.10228T= (p.Tyr3410=)
c.9406T= (p.Tyr3136=)
n.12246T=
c.12448T= (p.Tyr4150=)
c.12376T= (p.Tyr4126=)
c.12238T= (p.Tyr4080=)
c.10324T= (p.Tyr3442=)
16g.2090401A>CCA394325378PKD1c.12328T>G (p.Tyr4110Asp)
c.12325T>G (p.Tyr4109Asp)
n.356T>G
c.9283T>G (p.Tyr3095Asp)
c.12406T>G (p.Tyr4136Asp)
c.12403T>G (p.Tyr4135Asp)
c.12388T>G (p.Tyr4130Asp)
c.12382T>G (p.Tyr4128Asp)
c.12379T>G (p.Tyr4127Asp)
c.12352T>G (p.Tyr4118Asp)
c.12334T>G (p.Tyr4112Asp)
c.12280T>G (p.Tyr4094Asp)
c.12199T>G (p.Tyr4067Asp)
c.12142T>G (p.Tyr4048Asp)
c.10228T>G (p.Tyr3410Asp)
c.9406T>G (p.Tyr3136Asp)
n.12246T>G
c.12448T>G (p.Tyr4150Asp)
c.12376T>G (p.Tyr4126Asp)
c.12238T>G (p.Tyr4080Asp)
c.10324T>G (p.Tyr3442Asp)
16g.2090401A>GCA394325386PKD1c.12328T>C (p.Tyr4110His)
c.12325T>C (p.Tyr4109His)
n.356T>C
c.9283T>C (p.Tyr3095His)
c.12406T>C (p.Tyr4136His)
c.12403T>C (p.Tyr4135His)
c.12388T>C (p.Tyr4130His)
c.12382T>C (p.Tyr4128His)
c.12379T>C (p.Tyr4127His)
c.12352T>C (p.Tyr4118His)
c.12334T>C (p.Tyr4112His)
c.12280T>C (p.Tyr4094His)
c.12199T>C (p.Tyr4067His)
c.12142T>C (p.Tyr4048His)
c.10228T>C (p.Tyr3410His)
c.9406T>C (p.Tyr3136His)
n.12246T>C
c.12448T>C (p.Tyr4150His)
c.12376T>C (p.Tyr4126His)
c.12238T>C (p.Tyr4080His)
c.10324T>C (p.Tyr3442His)
 dbSNP
16g.2090401A>TCA394325390PKD1c.12328T>A (p.Tyr4110Asn)
c.12325T>A (p.Tyr4109Asn)
n.356T>A
c.9283T>A (p.Tyr3095Asn)
c.12406T>A (p.Tyr4136Asn)
c.12403T>A (p.Tyr4135Asn)
c.12388T>A (p.Tyr4130Asn)
c.12382T>A (p.Tyr4128Asn)
c.12379T>A (p.Tyr4127Asn)
c.12352T>A (p.Tyr4118Asn)
c.12334T>A (p.Tyr4112Asn)
c.12280T>A (p.Tyr4094Asn)
c.12199T>A (p.Tyr4067Asn)
c.12142T>A (p.Tyr4048Asn)
c.10228T>A (p.Tyr3410Asn)
c.9406T>A (p.Tyr3136Asn)
n.12246T>A
c.12448T>A (p.Tyr4150Asn)
c.12376T>A (p.Tyr4126Asn)
c.12238T>A (p.Tyr4080Asn)
c.10324T>A (p.Tyr3442Asn)
16g.2090402G>ACA493044359PKD1c.12327C>T (p.Arg4109=)
c.12324C>T (p.Arg4108=)
n.355C>T
c.9282C>T (p.Arg3094=)
c.12405C>T (p.Arg4135=)
c.12402C>T (p.Arg4134=)
c.12387C>T (p.Arg4129=)
c.12381C>T (p.Arg4127=)
c.12378C>T (p.Arg4126=)
c.12351C>T (p.Arg4117=)
c.12333C>T (p.Arg4111=)
c.12279C>T (p.Arg4093=)
c.12198C>T (p.Arg4066=)
c.12141C>T (p.Arg4047=)
c.10227C>T (p.Arg3409=)
c.9405C>T (p.Arg3135=)
n.12245C>T
c.12447C>T (p.Arg4149=)
c.12375C>T (p.Arg4125=)
c.12237C>T (p.Arg4079=)
c.10323C>T (p.Arg3441=)
 dbSNP gnomAD v3 gnomAD v4
16g.2090402G>CCA493044361PKD1c.12327C>G (p.Arg4109=)
c.12324C>G (p.Arg4108=)
n.355C>G
c.9282C>G (p.Arg3094=)
c.12405C>G (p.Arg4135=)
c.12402C>G (p.Arg4134=)
c.12387C>G (p.Arg4129=)
c.12381C>G (p.Arg4127=)
c.12378C>G (p.Arg4126=)
c.12351C>G (p.Arg4117=)
c.12333C>G (p.Arg4111=)
c.12279C>G (p.Arg4093=)
c.12198C>G (p.Arg4066=)
c.12141C>G (p.Arg4047=)
c.10227C>G (p.Arg3409=)
c.9405C>G (p.Arg3135=)
n.12245C>G
c.12447C>G (p.Arg4149=)
c.12375C>G (p.Arg4125=)
c.12237C>G (p.Arg4079=)
c.10323C>G (p.Arg3441=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2090402G=CA2202041661PKD1c.12327C= (p.Arg4109=)
c.12324C= (p.Arg4108=)
n.355C=
c.9282C= (p.Arg3094=)
c.12405C= (p.Arg4135=)
c.12402C= (p.Arg4134=)
c.12387C= (p.Arg4129=)
c.12381C= (p.Arg4127=)
c.12378C= (p.Arg4126=)
c.12351C= (p.Arg4117=)
c.12333C= (p.Arg4111=)
c.12279C= (p.Arg4093=)
c.12198C= (p.Arg4066=)
c.12141C= (p.Arg4047=)
c.10227C= (p.Arg3409=)
c.9405C= (p.Arg3135=)
n.12245C=
c.12447C= (p.Arg4149=)
c.12375C= (p.Arg4125=)
c.12237C= (p.Arg4079=)
c.10323C= (p.Arg3441=)
16g.2090402G>TCA493044362PKD1c.12327C>A (p.Arg4109=)
c.12324C>A (p.Arg4108=)
n.355C>A
c.9282C>A (p.Arg3094=)
c.12405C>A (p.Arg4135=)
c.12402C>A (p.Arg4134=)
c.12387C>A (p.Arg4129=)
c.12381C>A (p.Arg4127=)
c.12378C>A (p.Arg4126=)
c.12351C>A (p.Arg4117=)
c.12333C>A (p.Arg4111=)
c.12279C>A (p.Arg4093=)
c.12198C>A (p.Arg4066=)
c.12141C>A (p.Arg4047=)
c.10227C>A (p.Arg3409=)
c.9405C>A (p.Arg3135=)
n.12245C>A
c.12447C>A (p.Arg4149=)
c.12375C>A (p.Arg4125=)
c.12237C>A (p.Arg4079=)
c.10323C>A (p.Arg3441=)
16g.2090403C>ACA394325393PKD1c.12326G>T (p.Arg4109Leu)
c.12323G>T (p.Arg4108Leu)
n.354G>T
c.9281G>T (p.Arg3094Leu)
c.12404G>T (p.Arg4135Leu)
c.12401G>T (p.Arg4134Leu)
c.12386G>T (p.Arg4129Leu)
c.12380G>T (p.Arg4127Leu)
c.12377G>T (p.Arg4126Leu)
c.12350G>T (p.Arg4117Leu)
c.12332G>T (p.Arg4111Leu)
c.12278G>T (p.Arg4093Leu)
c.12197G>T (p.Arg4066Leu)
c.12140G>T (p.Arg4047Leu)
c.10226G>T (p.Arg3409Leu)
c.9404G>T (p.Arg3135Leu)
n.12244G>T
c.12446G>T (p.Arg4149Leu)
c.12374G>T (p.Arg4125Leu)
c.12236G>T (p.Arg4079Leu)
c.10322G>T (p.Arg3441Leu)
 ClinVar dbSNP
16g.2090403C=CA2202041662PKD1c.12326G= (p.Arg4109=)
c.12323G= (p.Arg4108=)
n.354G=
c.9281G= (p.Arg3094=)
c.12404G= (p.Arg4135=)
c.12401G= (p.Arg4134=)
c.12386G= (p.Arg4129=)
c.12380G= (p.Arg4127=)
c.12377G= (p.Arg4126=)
c.12350G= (p.Arg4117=)
c.12332G= (p.Arg4111=)
c.12278G= (p.Arg4093=)
c.12197G= (p.Arg4066=)
c.12140G= (p.Arg4047=)
c.10226G= (p.Arg3409=)
c.9404G= (p.Arg3135=)
n.12244G=
c.12446G= (p.Arg4149=)
c.12374G= (p.Arg4125=)
c.12236G= (p.Arg4079=)
c.10322G= (p.Arg3441=)
16g.2090403C>GCA394325394PKD1c.12326G>C (p.Arg4109Pro)
c.12323G>C (p.Arg4108Pro)
n.354G>C
c.9281G>C (p.Arg3094Pro)
c.12404G>C (p.Arg4135Pro)
c.12401G>C (p.Arg4134Pro)
c.12386G>C (p.Arg4129Pro)
c.12380G>C (p.Arg4127Pro)
c.12377G>C (p.Arg4126Pro)
c.12350G>C (p.Arg4117Pro)
c.12332G>C (p.Arg4111Pro)
c.12278G>C (p.Arg4093Pro)
c.12197G>C (p.Arg4066Pro)
c.12140G>C (p.Arg4047Pro)
c.10226G>C (p.Arg3409Pro)
c.9404G>C (p.Arg3135Pro)
n.12244G>C
c.12446G>C (p.Arg4149Pro)
c.12374G>C (p.Arg4125Pro)
c.12236G>C (p.Arg4079Pro)
c.10322G>C (p.Arg3441Pro)
16g.2090403C>TCA394325395PKD1c.12326G>A (p.Arg4109His)
c.12323G>A (p.Arg4108His)
n.354G>A
c.9281G>A (p.Arg3094His)
c.12404G>A (p.Arg4135His)
c.12401G>A (p.Arg4134His)
c.12386G>A (p.Arg4129His)
c.12380G>A (p.Arg4127His)
c.12377G>A (p.Arg4126His)
c.12350G>A (p.Arg4117His)
c.12332G>A (p.Arg4111His)
c.12278G>A (p.Arg4093His)
c.12197G>A (p.Arg4066His)
c.12140G>A (p.Arg4047His)
c.10226G>A (p.Arg3409His)
c.9404G>A (p.Arg3135His)
n.12244G>A
c.12446G>A (p.Arg4149His)
c.12374G>A (p.Arg4125His)
c.12236G>A (p.Arg4079His)
c.10322G>A (p.Arg3441His)
 dbSNP gnomAD v2 gnomAD v4
16g.2090404G>ACA7828683PKD1c.12325C>T (p.Arg4109Cys)
c.12322C>T (p.Arg4108Cys)
n.353C>T
c.9280C>T (p.Arg3094Cys)
c.12403C>T (p.Arg4135Cys)
c.12400C>T (p.Arg4134Cys)
c.12385C>T (p.Arg4129Cys)
c.12379C>T (p.Arg4127Cys)
c.12376C>T (p.Arg4126Cys)
c.12349C>T (p.Arg4117Cys)
c.12331C>T (p.Arg4111Cys)
c.12277C>T (p.Arg4093Cys)
c.12196C>T (p.Arg4066Cys)
c.12139C>T (p.Arg4047Cys)
c.10225C>T (p.Arg3409Cys)
c.9403C>T (p.Arg3135Cys)
n.12243C>T
c.12445C>T (p.Arg4149Cys)
c.12373C>T (p.Arg4125Cys)
c.12235C>T (p.Arg4079Cys)
c.10321C>T (p.Arg3441Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.2090404G>CCA394325400PKD1c.12325C>G (p.Arg4109Gly)
c.12322C>G (p.Arg4108Gly)
n.353C>G
c.9280C>G (p.Arg3094Gly)
c.12403C>G (p.Arg4135Gly)
c.12400C>G (p.Arg4134Gly)
c.12385C>G (p.Arg4129Gly)
c.12379C>G (p.Arg4127Gly)
c.12376C>G (p.Arg4126Gly)
c.12349C>G (p.Arg4117Gly)
c.12331C>G (p.Arg4111Gly)
c.12277C>G (p.Arg4093Gly)
c.12196C>G (p.Arg4066Gly)
c.12139C>G (p.Arg4047Gly)
c.10225C>G (p.Arg3409Gly)
c.9403C>G (p.Arg3135Gly)
n.12243C>G
c.12445C>G (p.Arg4149Gly)
c.12373C>G (p.Arg4125Gly)
c.12235C>G (p.Arg4079Gly)
c.10321C>G (p.Arg3441Gly)
16g.2090404G=CA2202041666PKD1c.12325C= (p.Arg4109=)
c.12322C= (p.Arg4108=)
n.353C=
c.9280C= (p.Arg3094=)
c.12403C= (p.Arg4135=)
c.12400C= (p.Arg4134=)
c.12385C= (p.Arg4129=)
c.12379C= (p.Arg4127=)
c.12376C= (p.Arg4126=)
c.12349C= (p.Arg4117=)
c.12331C= (p.Arg4111=)
c.12277C= (p.Arg4093=)
c.12196C= (p.Arg4066=)
c.12139C= (p.Arg4047=)
c.10225C= (p.Arg3409=)
c.9403C= (p.Arg3135=)
n.12243C=
c.12445C= (p.Arg4149=)
c.12373C= (p.Arg4125=)
c.12235C= (p.Arg4079=)
c.10321C= (p.Arg3441=)
16g.2090404G>TCA394325405PKD1c.12325C>A (p.Arg4109Ser)
c.12322C>A (p.Arg4108Ser)
n.353C>A
c.9280C>A (p.Arg3094Ser)
c.12403C>A (p.Arg4135Ser)
c.12400C>A (p.Arg4134Ser)
c.12385C>A (p.Arg4129Ser)
c.12379C>A (p.Arg4127Ser)
c.12376C>A (p.Arg4126Ser)
c.12349C>A (p.Arg4117Ser)
c.12331C>A (p.Arg4111Ser)
c.12277C>A (p.Arg4093Ser)
c.12196C>A (p.Arg4066Ser)
c.12139C>A (p.Arg4047Ser)
c.10225C>A (p.Arg3409Ser)
c.9403C>A (p.Arg3135Ser)
n.12243C>A
c.12445C>A (p.Arg4149Ser)
c.12373C>A (p.Arg4125Ser)
c.12235C>A (p.Arg4079Ser)
c.10321C>A (p.Arg3441Ser)
16g.2090405C>ACA394325415PKD1c.12324G>T (p.Trp4108Cys)
c.12321G>T (p.Trp4107Cys)
n.352G>T
c.9279G>T (p.Trp3093Cys)
c.12402G>T (p.Trp4134Cys)
c.12399G>T (p.Trp4133Cys)
c.12384G>T (p.Trp4128Cys)
c.12378G>T (p.Trp4126Cys)
c.12375G>T (p.Trp4125Cys)
c.12348G>T (p.Trp4116Cys)
c.12330G>T (p.Trp4110Cys)
c.12276G>T (p.Trp4092Cys)
c.12195G>T (p.Trp4065Cys)
c.12138G>T (p.Trp4046Cys)
c.10224G>T (p.Trp3408Cys)
c.9402G>T (p.Trp3134Cys)
n.12242G>T
c.12444G>T (p.Trp4148Cys)
c.12372G>T (p.Trp4124Cys)
c.12234G>T (p.Trp4078Cys)
c.10320G>T (p.Trp3440Cys)
16g.2090405C>GCA394325421PKD1c.12324G>C (p.Trp4108Cys)
c.12321G>C (p.Trp4107Cys)
n.352G>C
c.9279G>C (p.Trp3093Cys)
c.12402G>C (p.Trp4134Cys)
c.12399G>C (p.Trp4133Cys)
c.12384G>C (p.Trp4128Cys)
c.12378G>C (p.Trp4126Cys)
c.12375G>C (p.Trp4125Cys)
c.12348G>C (p.Trp4116Cys)
c.12330G>C (p.Trp4110Cys)
c.12276G>C (p.Trp4092Cys)
c.12195G>C (p.Trp4065Cys)
c.12138G>C (p.Trp4046Cys)
c.10224G>C (p.Trp3408Cys)
c.9402G>C (p.Trp3134Cys)
n.12242G>C
c.12444G>C (p.Trp4148Cys)
c.12372G>C (p.Trp4124Cys)
c.12234G>C (p.Trp4078Cys)
c.10320G>C (p.Trp3440Cys)
16g.2090405C>TCA394325412PKD1c.12324G>A (p.Trp4108Ter)
c.12321G>A (p.Trp4107Ter)
n.352G>A
c.9279G>A (p.Trp3093Ter)
c.12402G>A (p.Trp4134Ter)
c.12399G>A (p.Trp4133Ter)
c.12384G>A (p.Trp4128Ter)
c.12378G>A (p.Trp4126Ter)
c.12375G>A (p.Trp4125Ter)
c.12348G>A (p.Trp4116Ter)
c.12330G>A (p.Trp4110Ter)
c.12276G>A (p.Trp4092Ter)
c.12195G>A (p.Trp4065Ter)
c.12138G>A (p.Trp4046Ter)
c.10224G>A (p.Trp3408Ter)
c.9402G>A (p.Trp3134Ter)
n.12242G>A
c.12444G>A (p.Trp4148Ter)
c.12372G>A (p.Trp4124Ter)
c.12234G>A (p.Trp4078Ter)
c.10320G>A (p.Trp3440Ter)
16g.2090406C>ACA394325429PKD1c.12323G>T (p.Trp4108Leu)
c.12320G>T (p.Trp4107Leu)
n.351G>T
c.9278G>T (p.Trp3093Leu)
c.12401G>T (p.Trp4134Leu)
c.12398G>T (p.Trp4133Leu)
c.12383G>T (p.Trp4128Leu)
c.12377G>T (p.Trp4126Leu)
c.12374G>T (p.Trp4125Leu)
c.12347G>T (p.Trp4116Leu)
c.12329G>T (p.Trp4110Leu)
c.12275G>T (p.Trp4092Leu)
c.12194G>T (p.Trp4065Leu)
c.12137G>T (p.Trp4046Leu)
c.10223G>T (p.Trp3408Leu)
c.9401G>T (p.Trp3134Leu)
n.12241G>T
c.12443G>T (p.Trp4148Leu)
c.12371G>T (p.Trp4124Leu)
c.12233G>T (p.Trp4078Leu)
c.10319G>T (p.Trp3440Leu)
16g.2090406C>GCA394325433PKD1c.12323G>C (p.Trp4108Ser)
c.12320G>C (p.Trp4107Ser)
n.351G>C
c.9278G>C (p.Trp3093Ser)
c.12401G>C (p.Trp4134Ser)
c.12398G>C (p.Trp4133Ser)
c.12383G>C (p.Trp4128Ser)
c.12377G>C (p.Trp4126Ser)
c.12374G>C (p.Trp4125Ser)
c.12347G>C (p.Trp4116Ser)
c.12329G>C (p.Trp4110Ser)
c.12275G>C (p.Trp4092Ser)
c.12194G>C (p.Trp4065Ser)
c.12137G>C (p.Trp4046Ser)
c.10223G>C (p.Trp3408Ser)
c.9401G>C (p.Trp3134Ser)
n.12241G>C
c.12443G>C (p.Trp4148Ser)
c.12371G>C (p.Trp4124Ser)
c.12233G>C (p.Trp4078Ser)
c.10319G>C (p.Trp3440Ser)
16g.2090406C>TCA394325435PKD1c.12323G>A (p.Trp4108Ter)
c.12320G>A (p.Trp4107Ter)
n.351G>A
c.9278G>A (p.Trp3093Ter)
c.12401G>A (p.Trp4134Ter)
c.12398G>A (p.Trp4133Ter)
c.12383G>A (p.Trp4128Ter)
c.12377G>A (p.Trp4126Ter)
c.12374G>A (p.Trp4125Ter)
c.12347G>A (p.Trp4116Ter)
c.12329G>A (p.Trp4110Ter)
c.12275G>A (p.Trp4092Ter)
c.12194G>A (p.Trp4065Ter)
c.12137G>A (p.Trp4046Ter)
c.10223G>A (p.Trp3408Ter)
c.9401G>A (p.Trp3134Ter)
n.12241G>A
c.12443G>A (p.Trp4148Ter)
c.12371G>A (p.Trp4124Ter)
c.12233G>A (p.Trp4078Ter)
c.10319G>A (p.Trp3440Ter)
 ClinVar
16g.2090407A>CCA394325438PKD1c.12322T>G (p.Trp4108Gly)
c.12319T>G (p.Trp4107Gly)
n.350T>G
c.9277T>G (p.Trp3093Gly)
c.12400T>G (p.Trp4134Gly)
c.12397T>G (p.Trp4133Gly)
c.12382T>G (p.Trp4128Gly)
c.12376T>G (p.Trp4126Gly)
c.12373T>G (p.Trp4125Gly)
c.12346T>G (p.Trp4116Gly)
c.12328T>G (p.Trp4110Gly)
c.12274T>G (p.Trp4092Gly)
c.12193T>G (p.Trp4065Gly)
c.12136T>G (p.Trp4046Gly)
c.10222T>G (p.Trp3408Gly)
c.9400T>G (p.Trp3134Gly)
n.12240T>G
c.12442T>G (p.Trp4148Gly)
c.12370T>G (p.Trp4124Gly)
c.12232T>G (p.Trp4078Gly)
c.10318T>G (p.Trp3440Gly)
16g.2090407A>GCA394325441PKD1c.12322T>C (p.Trp4108Arg)
c.12319T>C (p.Trp4107Arg)
n.350T>C
c.9277T>C (p.Trp3093Arg)
c.12400T>C (p.Trp4134Arg)
c.12397T>C (p.Trp4133Arg)
c.12382T>C (p.Trp4128Arg)
c.12376T>C (p.Trp4126Arg)
c.12373T>C (p.Trp4125Arg)
c.12346T>C (p.Trp4116Arg)
c.12328T>C (p.Trp4110Arg)
c.12274T>C (p.Trp4092Arg)
c.12193T>C (p.Trp4065Arg)
c.12136T>C (p.Trp4046Arg)
c.10222T>C (p.Trp3408Arg)
c.9400T>C (p.Trp3134Arg)
n.12240T>C
c.12442T>C (p.Trp4148Arg)
c.12370T>C (p.Trp4124Arg)
c.12232T>C (p.Trp4078Arg)
c.10318T>C (p.Trp3440Arg)
 gnomAD v4
16g.2090407A>TCA394325443PKD1c.12322T>A (p.Trp4108Arg)
c.12319T>A (p.Trp4107Arg)
n.350T>A
c.9277T>A (p.Trp3093Arg)
c.12400T>A (p.Trp4134Arg)
c.12397T>A (p.Trp4133Arg)
c.12382T>A (p.Trp4128Arg)
c.12376T>A (p.Trp4126Arg)
c.12373T>A (p.Trp4125Arg)
c.12346T>A (p.Trp4116Arg)
c.12328T>A (p.Trp4110Arg)
c.12274T>A (p.Trp4092Arg)
c.12193T>A (p.Trp4065Arg)
c.12136T>A (p.Trp4046Arg)
c.10222T>A (p.Trp3408Arg)
c.9400T>A (p.Trp3134Arg)
n.12240T>A
c.12442T>A (p.Trp4148Arg)
c.12370T>A (p.Trp4124Arg)
c.12232T>A (p.Trp4078Arg)
c.10318T>A (p.Trp3440Arg)
16g.2090408G>ACA493044366PKD1c.12321C>T (p.Arg4107=)
c.12318C>T (p.Arg4106=)
n.349C>T
c.9276C>T (p.Arg3092=)
c.12399C>T (p.Arg4133=)
c.12396C>T (p.Arg4132=)
c.12381C>T (p.Arg4127=)
c.12375C>T (p.Arg4125=)
c.12372C>T (p.Arg4124=)
c.12345C>T (p.Arg4115=)
c.12327C>T (p.Arg4109=)
c.12273C>T (p.Arg4091=)
c.12192C>T (p.Arg4064=)
c.12135C>T (p.Arg4045=)
c.10221C>T (p.Arg3407=)
c.9399C>T (p.Arg3133=)
n.12239C>T
c.12441C>T (p.Arg4147=)
c.12369C>T (p.Arg4123=)
c.12231C>T (p.Arg4077=)
c.10317C>T (p.Arg3439=)
 dbSNP gnomAD v3 gnomAD v4
16g.2090408G>CCA493044367PKD1c.12321C>G (p.Arg4107=)
c.12318C>G (p.Arg4106=)
n.349C>G
c.9276C>G (p.Arg3092=)
c.12399C>G (p.Arg4133=)
c.12396C>G (p.Arg4132=)
c.12381C>G (p.Arg4127=)
c.12375C>G (p.Arg4125=)
c.12372C>G (p.Arg4124=)
c.12345C>G (p.Arg4115=)
c.12327C>G (p.Arg4109=)
c.12273C>G (p.Arg4091=)
c.12192C>G (p.Arg4064=)
c.12135C>G (p.Arg4045=)
c.10221C>G (p.Arg3407=)
c.9399C>G (p.Arg3133=)
n.12239C>G
c.12441C>G (p.Arg4147=)
c.12369C>G (p.Arg4123=)
c.12231C>G (p.Arg4077=)
c.10317C>G (p.Arg3439=)
16g.2090408G=CA2202041672PKD1c.12321C= (p.Arg4107=)
c.12318C= (p.Arg4106=)
n.349C=
c.9276C= (p.Arg3092=)
c.12399C= (p.Arg4133=)
c.12396C= (p.Arg4132=)
c.12381C= (p.Arg4127=)
c.12375C= (p.Arg4125=)
c.12372C= (p.Arg4124=)
c.12345C= (p.Arg4115=)
c.12327C= (p.Arg4109=)
c.12273C= (p.Arg4091=)
c.12192C= (p.Arg4064=)
c.12135C= (p.Arg4045=)
c.10221C= (p.Arg3407=)
c.9399C= (p.Arg3133=)
n.12239C=
c.12441C= (p.Arg4147=)
c.12369C= (p.Arg4123=)
c.12231C= (p.Arg4077=)
c.10317C= (p.Arg3439=)
16g.2090408G>TCA493044368PKD1c.12321C>A (p.Arg4107=)
c.12318C>A (p.Arg4106=)
n.349C>A
c.9276C>A (p.Arg3092=)
c.12399C>A (p.Arg4133=)
c.12396C>A (p.Arg4132=)
c.12381C>A (p.Arg4127=)
c.12375C>A (p.Arg4125=)
c.12372C>A (p.Arg4124=)
c.12345C>A (p.Arg4115=)
c.12327C>A (p.Arg4109=)
c.12273C>A (p.Arg4091=)
c.12192C>A (p.Arg4064=)
c.12135C>A (p.Arg4045=)
c.10221C>A (p.Arg3407=)
c.9399C>A (p.Arg3133=)
n.12239C>A
c.12441C>A (p.Arg4147=)
c.12369C>A (p.Arg4123=)
c.12231C>A (p.Arg4077=)
c.10317C>A (p.Arg3439=)
16g.2090409C>ACA394325457PKD1c.12320G>T (p.Arg4107Leu)
c.12317G>T (p.Arg4106Leu)
n.348G>T
c.9275G>T (p.Arg3092Leu)
c.12398G>T (p.Arg4133Leu)
c.12395G>T (p.Arg4132Leu)
c.12380G>T (p.Arg4127Leu)
c.12374G>T (p.Arg4125Leu)
c.12371G>T (p.Arg4124Leu)
c.12344G>T (p.Arg4115Leu)
c.12326G>T (p.Arg4109Leu)
c.12272G>T (p.Arg4091Leu)
c.12191G>T (p.Arg4064Leu)
c.12134G>T (p.Arg4045Leu)
c.10220G>T (p.Arg3407Leu)
c.9398G>T (p.Arg3133Leu)
n.12238G>T
c.12440G>T (p.Arg4147Leu)
c.12368G>T (p.Arg4123Leu)
c.12230G>T (p.Arg4077Leu)
c.10316G>T (p.Arg3439Leu)
16g.2090409C=CA2202041679PKD1c.12320G= (p.Arg4107=)
c.12317G= (p.Arg4106=)
n.348G=
c.9275G= (p.Arg3092=)
c.12398G= (p.Arg4133=)
c.12395G= (p.Arg4132=)
c.12380G= (p.Arg4127=)
c.12374G= (p.Arg4125=)
c.12371G= (p.Arg4124=)
c.12344G= (p.Arg4115=)
c.12326G= (p.Arg4109=)
c.12272G= (p.Arg4091=)
c.12191G= (p.Arg4064=)
c.12134G= (p.Arg4045=)
c.10220G= (p.Arg3407=)
c.9398G= (p.Arg3133=)
n.12238G=
c.12440G= (p.Arg4147=)
c.12368G= (p.Arg4123=)
c.12230G= (p.Arg4077=)
c.10316G= (p.Arg3439=)
16g.2090409C>GCA394325449PKD1c.12320G>C (p.Arg4107Pro)
c.12317G>C (p.Arg4106Pro)
n.348G>C
c.9275G>C (p.Arg3092Pro)
c.12398G>C (p.Arg4133Pro)
c.12395G>C (p.Arg4132Pro)
c.12380G>C (p.Arg4127Pro)
c.12374G>C (p.Arg4125Pro)
c.12371G>C (p.Arg4124Pro)
c.12344G>C (p.Arg4115Pro)
c.12326G>C (p.Arg4109Pro)
c.12272G>C (p.Arg4091Pro)
c.12191G>C (p.Arg4064Pro)
c.12134G>C (p.Arg4045Pro)
c.10220G>C (p.Arg3407Pro)
c.9398G>C (p.Arg3133Pro)
n.12238G>C
c.12440G>C (p.Arg4147Pro)
c.12368G>C (p.Arg4123Pro)
c.12230G>C (p.Arg4077Pro)
c.10316G>C (p.Arg3439Pro)
 dbSNP gnomAD v4
16g.2090409C>TCA7828684PKD1c.12320G>A (p.Arg4107His)
c.12317G>A (p.Arg4106His)
n.348G>A
c.9275G>A (p.Arg3092His)
c.12398G>A (p.Arg4133His)
c.12395G>A (p.Arg4132His)
c.12380G>A (p.Arg4127His)
c.12374G>A (p.Arg4125His)
c.12371G>A (p.Arg4124His)
c.12344G>A (p.Arg4115His)
c.12326G>A (p.Arg4109His)
c.12272G>A (p.Arg4091His)
c.12191G>A (p.Arg4064His)
c.12134G>A (p.Arg4045His)
c.10220G>A (p.Arg3407His)
c.9398G>A (p.Arg3133His)
n.12238G>A
c.12440G>A (p.Arg4147His)
c.12368G>A (p.Arg4123His)
c.12230G>A (p.Arg4077His)
c.10316G>A (p.Arg3439His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090410G>ACA7828685PKD1c.12319C>T (p.Arg4107Cys)
c.12316C>T (p.Arg4106Cys)
n.347C>T
c.9274C>T (p.Arg3092Cys)
c.12397C>T (p.Arg4133Cys)
c.12394C>T (p.Arg4132Cys)
c.12379C>T (p.Arg4127Cys)
c.12373C>T (p.Arg4125Cys)
c.12370C>T (p.Arg4124Cys)
c.12343C>T (p.Arg4115Cys)
c.12325C>T (p.Arg4109Cys)
c.12271C>T (p.Arg4091Cys)
c.12190C>T (p.Arg4064Cys)
c.12133C>T (p.Arg4045Cys)
c.10219C>T (p.Arg3407Cys)
c.9397C>T (p.Arg3133Cys)
n.12237C>T
c.12439C>T (p.Arg4147Cys)
c.12367C>T (p.Arg4123Cys)
c.12229C>T (p.Arg4077Cys)
c.10315C>T (p.Arg3439Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090410G>CCA394325465PKD1c.12319C>G (p.Arg4107Gly)
c.12316C>G (p.Arg4106Gly)
n.347C>G
c.9274C>G (p.Arg3092Gly)
c.12397C>G (p.Arg4133Gly)
c.12394C>G (p.Arg4132Gly)
c.12379C>G (p.Arg4127Gly)
c.12373C>G (p.Arg4125Gly)
c.12370C>G (p.Arg4124Gly)
c.12343C>G (p.Arg4115Gly)
c.12325C>G (p.Arg4109Gly)
c.12271C>G (p.Arg4091Gly)
c.12190C>G (p.Arg4064Gly)
c.12133C>G (p.Arg4045Gly)
c.10219C>G (p.Arg3407Gly)
c.9397C>G (p.Arg3133Gly)
n.12237C>G
c.12439C>G (p.Arg4147Gly)
c.12367C>G (p.Arg4123Gly)
c.12229C>G (p.Arg4077Gly)
c.10315C>G (p.Arg3439Gly)
16g.2090410G=CA2202041686PKD1c.12319C= (p.Arg4107=)
c.12316C= (p.Arg4106=)
n.347C=
c.9274C= (p.Arg3092=)
c.12397C= (p.Arg4133=)
c.12394C= (p.Arg4132=)
c.12379C= (p.Arg4127=)
c.12373C= (p.Arg4125=)
c.12370C= (p.Arg4124=)
c.12343C= (p.Arg4115=)
c.12325C= (p.Arg4109=)
c.12271C= (p.Arg4091=)
c.12190C= (p.Arg4064=)
c.12133C= (p.Arg4045=)
c.10219C= (p.Arg3407=)
c.9397C= (p.Arg3133=)
n.12237C=
c.12439C= (p.Arg4147=)
c.12367C= (p.Arg4123=)
c.12229C= (p.Arg4077=)
c.10315C= (p.Arg3439=)
16g.2090410G>TCA394325468PKD1c.12319C>A (p.Arg4107Ser)
c.12316C>A (p.Arg4106Ser)
n.347C>A
c.9274C>A (p.Arg3092Ser)
c.12397C>A (p.Arg4133Ser)
c.12394C>A (p.Arg4132Ser)
c.12379C>A (p.Arg4127Ser)
c.12373C>A (p.Arg4125Ser)
c.12370C>A (p.Arg4124Ser)
c.12343C>A (p.Arg4115Ser)
c.12325C>A (p.Arg4109Ser)
c.12271C>A (p.Arg4091Ser)
c.12190C>A (p.Arg4064Ser)
c.12133C>A (p.Arg4045Ser)
c.10219C>A (p.Arg3407Ser)
c.9397C>A (p.Arg3133Ser)
n.12237C>A
c.12439C>A (p.Arg4147Ser)
c.12367C>A (p.Arg4123Ser)
c.12229C>A (p.Arg4077Ser)
c.10315C>A (p.Arg3439Ser)
16g.2090411G>ACA7828687PKD1c.12318C>T (p.Leu4106=)
c.12315C>T (p.Leu4105=)
n.346C>T
c.9273C>T (p.Leu3091=)
c.12396C>T (p.Leu4132=)
c.12393C>T (p.Leu4131=)
c.12378C>T (p.Leu4126=)
c.12372C>T (p.Leu4124=)
c.12369C>T (p.Leu4123=)
c.12342C>T (p.Leu4114=)
c.12324C>T (p.Leu4108=)
c.12270C>T (p.Leu4090=)
c.12189C>T (p.Leu4063=)
c.12132C>T (p.Leu4044=)
c.10218C>T (p.Leu3406=)
c.9396C>T (p.Leu3132=)
n.12236C>T
c.12438C>T (p.Leu4146=)
c.12366C>T (p.Leu4122=)
c.12228C>T (p.Leu4076=)
c.10314C>T (p.Leu3438=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090411G>CCA7828686PKD1c.12318C>G (p.Leu4106=)
c.12315C>G (p.Leu4105=)
n.346C>G
c.9273C>G (p.Leu3091=)
c.12396C>G (p.Leu4132=)
c.12393C>G (p.Leu4131=)
c.12378C>G (p.Leu4126=)
c.12372C>G (p.Leu4124=)
c.12369C>G (p.Leu4123=)
c.12342C>G (p.Leu4114=)
c.12324C>G (p.Leu4108=)
c.12270C>G (p.Leu4090=)
c.12189C>G (p.Leu4063=)
c.12132C>G (p.Leu4044=)
c.10218C>G (p.Leu3406=)
c.9396C>G (p.Leu3132=)
n.12236C>G
c.12438C>G (p.Leu4146=)
c.12366C>G (p.Leu4122=)
c.12228C>G (p.Leu4076=)
c.10314C>G (p.Leu3438=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2090411G=CA2202041688PKD1c.12318C= (p.Leu4106=)
c.12315C= (p.Leu4105=)
n.346C=
c.9273C= (p.Leu3091=)
c.12396C= (p.Leu4132=)
c.12393C= (p.Leu4131=)
c.12378C= (p.Leu4126=)
c.12372C= (p.Leu4124=)
c.12369C= (p.Leu4123=)
c.12342C= (p.Leu4114=)
c.12324C= (p.Leu4108=)
c.12270C= (p.Leu4090=)
c.12189C= (p.Leu4063=)
c.12132C= (p.Leu4044=)
c.10218C= (p.Leu3406=)
c.9396C= (p.Leu3132=)
n.12236C=
c.12438C= (p.Leu4146=)
c.12366C= (p.Leu4122=)
c.12228C= (p.Leu4076=)
c.10314C= (p.Leu3438=)
16g.2090411G>TCA493044372PKD1c.12318C>A (p.Leu4106=)
c.12315C>A (p.Leu4105=)
n.346C>A
c.9273C>A (p.Leu3091=)
c.12396C>A (p.Leu4132=)
c.12393C>A (p.Leu4131=)
c.12378C>A (p.Leu4126=)
c.12372C>A (p.Leu4124=)
c.12369C>A (p.Leu4123=)
c.12342C>A (p.Leu4114=)
c.12324C>A (p.Leu4108=)
c.12270C>A (p.Leu4090=)
c.12189C>A (p.Leu4063=)
c.12132C>A (p.Leu4044=)
c.10218C>A (p.Leu3406=)
c.9396C>A (p.Leu3132=)
n.12236C>A
c.12438C>A (p.Leu4146=)
c.12366C>A (p.Leu4122=)
c.12228C>A (p.Leu4076=)
c.10314C>A (p.Leu3438=)
16g.2090412A>CCA394325477PKD1c.12317T>G (p.Leu4106Arg)
c.12314T>G (p.Leu4105Arg)
n.345T>G
c.9272T>G (p.Leu3091Arg)
c.12395T>G (p.Leu4132Arg)
c.12392T>G (p.Leu4131Arg)
c.12377T>G (p.Leu4126Arg)
c.12371T>G (p.Leu4124Arg)
c.12368T>G (p.Leu4123Arg)
c.12341T>G (p.Leu4114Arg)
c.12323T>G (p.Leu4108Arg)
c.12269T>G (p.Leu4090Arg)
c.12188T>G (p.Leu4063Arg)
c.12131T>G (p.Leu4044Arg)
c.10217T>G (p.Leu3406Arg)
c.9395T>G (p.Leu3132Arg)
n.12235T>G
c.12437T>G (p.Leu4146Arg)
c.12365T>G (p.Leu4122Arg)
c.12227T>G (p.Leu4076Arg)
c.10313T>G (p.Leu3438Arg)
16g.2090412A>GCA394325483PKD1c.12317T>C (p.Leu4106Pro)
c.12314T>C (p.Leu4105Pro)
n.345T>C
c.9272T>C (p.Leu3091Pro)
c.12395T>C (p.Leu4132Pro)
c.12392T>C (p.Leu4131Pro)
c.12377T>C (p.Leu4126Pro)
c.12371T>C (p.Leu4124Pro)
c.12368T>C (p.Leu4123Pro)
c.12341T>C (p.Leu4114Pro)
c.12323T>C (p.Leu4108Pro)
c.12269T>C (p.Leu4090Pro)
c.12188T>C (p.Leu4063Pro)
c.12131T>C (p.Leu4044Pro)
c.10217T>C (p.Leu3406Pro)
c.9395T>C (p.Leu3132Pro)
n.12235T>C
c.12437T>C (p.Leu4146Pro)
c.12365T>C (p.Leu4122Pro)
c.12227T>C (p.Leu4076Pro)
c.10313T>C (p.Leu3438Pro)
16g.2090412A>TCA394325479PKD1c.12317T>A (p.Leu4106His)
c.12314T>A (p.Leu4105His)
n.345T>A
c.9272T>A (p.Leu3091His)
c.12395T>A (p.Leu4132His)
c.12392T>A (p.Leu4131His)
c.12377T>A (p.Leu4126His)
c.12371T>A (p.Leu4124His)
c.12368T>A (p.Leu4123His)
c.12341T>A (p.Leu4114His)
c.12323T>A (p.Leu4108His)
c.12269T>A (p.Leu4090His)
c.12188T>A (p.Leu4063His)
c.12131T>A (p.Leu4044His)
c.10217T>A (p.Leu3406His)
c.9395T>A (p.Leu3132His)
n.12235T>A
c.12437T>A (p.Leu4146His)
c.12365T>A (p.Leu4122His)
c.12227T>A (p.Leu4076His)
c.10313T>A (p.Leu3438His)
16g.2090413G>ACA7828688PKD1c.12316C>T (p.Leu4106Phe)
c.12313C>T (p.Leu4105Phe)
n.344C>T
c.9271C>T (p.Leu3091Phe)
c.12394C>T (p.Leu4132Phe)
c.12391C>T (p.Leu4131Phe)
c.12376C>T (p.Leu4126Phe)
c.12370C>T (p.Leu4124Phe)
c.12367C>T (p.Leu4123Phe)
c.12340C>T (p.Leu4114Phe)
c.12322C>T (p.Leu4108Phe)
c.12268C>T (p.Leu4090Phe)
c.12187C>T (p.Leu4063Phe)
c.12130C>T (p.Leu4044Phe)
c.10216C>T (p.Leu3406Phe)
c.9394C>T (p.Leu3132Phe)
n.12234C>T
c.12436C>T (p.Leu4146Phe)
c.12364C>T (p.Leu4122Phe)
c.12226C>T (p.Leu4076Phe)
c.10312C>T (p.Leu3438Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090413G>CCA394325489PKD1c.12316C>G (p.Leu4106Val)
c.12313C>G (p.Leu4105Val)
n.344C>G
c.9271C>G (p.Leu3091Val)
c.12394C>G (p.Leu4132Val)
c.12391C>G (p.Leu4131Val)
c.12376C>G (p.Leu4126Val)
c.12370C>G (p.Leu4124Val)
c.12367C>G (p.Leu4123Val)
c.12340C>G (p.Leu4114Val)
c.12322C>G (p.Leu4108Val)
c.12268C>G (p.Leu4090Val)
c.12187C>G (p.Leu4063Val)
c.12130C>G (p.Leu4044Val)
c.10216C>G (p.Leu3406Val)
c.9394C>G (p.Leu3132Val)
n.12234C>G
c.12436C>G (p.Leu4146Val)
c.12364C>G (p.Leu4122Val)
c.12226C>G (p.Leu4076Val)
c.10312C>G (p.Leu3438Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2090413G=CA2202041692PKD1c.12316C= (p.Leu4106=)
c.12313C= (p.Leu4105=)
n.344C=
c.9271C= (p.Leu3091=)
c.12394C= (p.Leu4132=)
c.12391C= (p.Leu4131=)
c.12376C= (p.Leu4126=)
c.12370C= (p.Leu4124=)
c.12367C= (p.Leu4123=)
c.12340C= (p.Leu4114=)
c.12322C= (p.Leu4108=)
c.12268C= (p.Leu4090=)
c.12187C= (p.Leu4063=)
c.12130C= (p.Leu4044=)
c.10216C= (p.Leu3406=)
c.9394C= (p.Leu3132=)
n.12234C=
c.12436C= (p.Leu4146=)
c.12364C= (p.Leu4122=)
c.12226C= (p.Leu4076=)
c.10312C= (p.Leu3438=)
16g.2090413G>TCA394325498PKD1c.12316C>A (p.Leu4106Ile)
c.12313C>A (p.Leu4105Ile)
n.344C>A
c.9271C>A (p.Leu3091Ile)
c.12394C>A (p.Leu4132Ile)
c.12391C>A (p.Leu4131Ile)
c.12376C>A (p.Leu4126Ile)
c.12370C>A (p.Leu4124Ile)
c.12367C>A (p.Leu4123Ile)
c.12340C>A (p.Leu4114Ile)
c.12322C>A (p.Leu4108Ile)
c.12268C>A (p.Leu4090Ile)
c.12187C>A (p.Leu4063Ile)
c.12130C>A (p.Leu4044Ile)
c.10216C>A (p.Leu3406Ile)
c.9394C>A (p.Leu3132Ile)
n.12234C>A
c.12436C>A (p.Leu4146Ile)
c.12364C>A (p.Leu4122Ile)
c.12226C>A (p.Leu4076Ile)
c.10312C>A (p.Leu3438Ile)
16g.2090414A>CCA394325503PKD1c.12315T>G (p.Ile4105Met)
c.12312T>G (p.Ile4104Met)
n.343T>G
c.9270T>G (p.Ile3090Met)
c.12393T>G (p.Ile4131Met)
c.12390T>G (p.Ile4130Met)
c.12375T>G (p.Ile4125Met)
c.12369T>G (p.Ile4123Met)
c.12366T>G (p.Ile4122Met)
c.12339T>G (p.Ile4113Met)
c.12321T>G (p.Ile4107Met)
c.12267T>G (p.Ile4089Met)
c.12186T>G (p.Ile4062Met)
c.12129T>G (p.Ile4043Met)
c.10215T>G (p.Ile3405Met)
c.9393T>G (p.Ile3131Met)
n.12233T>G
c.12435T>G (p.Ile4145Met)
c.12363T>G (p.Ile4121Met)
c.12225T>G (p.Ile4075Met)
c.10311T>G (p.Ile3437Met)
16g.2090414A>GCA493044376PKD1c.12315T>C (p.Ile4105=)
c.12312T>C (p.Ile4104=)
n.343T>C
c.9270T>C (p.Ile3090=)
c.12393T>C (p.Ile4131=)
c.12390T>C (p.Ile4130=)
c.12375T>C (p.Ile4125=)
c.12369T>C (p.Ile4123=)
c.12366T>C (p.Ile4122=)
c.12339T>C (p.Ile4113=)
c.12321T>C (p.Ile4107=)
c.12267T>C (p.Ile4089=)
c.12186T>C (p.Ile4062=)
c.12129T>C (p.Ile4043=)
c.10215T>C (p.Ile3405=)
c.9393T>C (p.Ile3131=)
n.12233T>C
c.12435T>C (p.Ile4145=)
c.12363T>C (p.Ile4121=)
c.12225T>C (p.Ile4075=)
c.10311T>C (p.Ile3437=)
16g.2090414A>TCA493044377PKD1c.12315T>A (p.Ile4105=)
c.12312T>A (p.Ile4104=)
n.343T>A
c.9270T>A (p.Ile3090=)
c.12393T>A (p.Ile4131=)
c.12390T>A (p.Ile4130=)
c.12375T>A (p.Ile4125=)
c.12369T>A (p.Ile4123=)
c.12366T>A (p.Ile4122=)
c.12339T>A (p.Ile4113=)
c.12321T>A (p.Ile4107=)
c.12267T>A (p.Ile4089=)
c.12186T>A (p.Ile4062=)
c.12129T>A (p.Ile4043=)
c.10215T>A (p.Ile3405=)
c.9393T>A (p.Ile3131=)
n.12233T>A
c.12435T>A (p.Ile4145=)
c.12363T>A (p.Ile4121=)
c.12225T>A (p.Ile4075=)
c.10311T>A (p.Ile3437=)
16g.2090415A=CA2202041697PKD1c.12314T= (p.Ile4105=)
c.12311T= (p.Ile4104=)
n.342T=
c.9269T= (p.Ile3090=)
c.12392T= (p.Ile4131=)
c.12389T= (p.Ile4130=)
c.12374T= (p.Ile4125=)
c.12368T= (p.Ile4123=)
c.12365T= (p.Ile4122=)
c.12338T= (p.Ile4113=)
c.12320T= (p.Ile4107=)
c.12266T= (p.Ile4089=)
c.12185T= (p.Ile4062=)
c.12128T= (p.Ile4043=)
c.10214T= (p.Ile3405=)
c.9392T= (p.Ile3131=)
n.12232T=
c.12434T= (p.Ile4145=)
c.12362T= (p.Ile4121=)
c.12224T= (p.Ile4075=)
c.10310T= (p.Ile3437=)
16g.2090415A>CCA394325509PKD1c.12314T>G (p.Ile4105Ser)
c.12311T>G (p.Ile4104Ser)
n.342T>G
c.9269T>G (p.Ile3090Ser)
c.12392T>G (p.Ile4131Ser)
c.12389T>G (p.Ile4130Ser)
c.12374T>G (p.Ile4125Ser)
c.12368T>G (p.Ile4123Ser)
c.12365T>G (p.Ile4122Ser)
c.12338T>G (p.Ile4113Ser)
c.12320T>G (p.Ile4107Ser)
c.12266T>G (p.Ile4089Ser)
c.12185T>G (p.Ile4062Ser)
c.12128T>G (p.Ile4043Ser)
c.10214T>G (p.Ile3405Ser)
c.9392T>G (p.Ile3131Ser)
n.12232T>G
c.12434T>G (p.Ile4145Ser)
c.12362T>G (p.Ile4121Ser)
c.12224T>G (p.Ile4075Ser)
c.10310T>G (p.Ile3437Ser)
16g.2090415A>GCA7828689PKD1c.12314T>C (p.Ile4105Thr)
c.12311T>C (p.Ile4104Thr)
n.342T>C
c.9269T>C (p.Ile3090Thr)
c.12392T>C (p.Ile4131Thr)
c.12389T>C (p.Ile4130Thr)
c.12374T>C (p.Ile4125Thr)
c.12368T>C (p.Ile4123Thr)
c.12365T>C (p.Ile4122Thr)
c.12338T>C (p.Ile4113Thr)
c.12320T>C (p.Ile4107Thr)
c.12266T>C (p.Ile4089Thr)
c.12185T>C (p.Ile4062Thr)
c.12128T>C (p.Ile4043Thr)
c.10214T>C (p.Ile3405Thr)
c.9392T>C (p.Ile3131Thr)
n.12232T>C
c.12434T>C (p.Ile4145Thr)
c.12362T>C (p.Ile4121Thr)
c.12224T>C (p.Ile4075Thr)
c.10310T>C (p.Ile3437Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2090415A>TCA394325516PKD1c.12314T>A (p.Ile4105Asn)
c.12311T>A (p.Ile4104Asn)
n.342T>A
c.9269T>A (p.Ile3090Asn)
c.12392T>A (p.Ile4131Asn)
c.12389T>A (p.Ile4130Asn)
c.12374T>A (p.Ile4125Asn)
c.12368T>A (p.Ile4123Asn)
c.12365T>A (p.Ile4122Asn)
c.12338T>A (p.Ile4113Asn)
c.12320T>A (p.Ile4107Asn)
c.12266T>A (p.Ile4089Asn)
c.12185T>A (p.Ile4062Asn)
c.12128T>A (p.Ile4043Asn)
c.10214T>A (p.Ile3405Asn)
c.9392T>A (p.Ile3131Asn)
n.12232T>A
c.12434T>A (p.Ile4145Asn)
c.12362T>A (p.Ile4121Asn)
c.12224T>A (p.Ile4075Asn)
c.10310T>A (p.Ile3437Asn)
16g.2090416T>ACA394325517PKD1c.12313A>T (p.Ile4105Phe)
c.12310A>T (p.Ile4104Phe)
n.341A>T
c.9268A>T (p.Ile3090Phe)
c.12391A>T (p.Ile4131Phe)
c.12388A>T (p.Ile4130Phe)
c.12373A>T (p.Ile4125Phe)
c.12367A>T (p.Ile4123Phe)
c.12364A>T (p.Ile4122Phe)
c.12337A>T (p.Ile4113Phe)
c.12319A>T (p.Ile4107Phe)
c.12265A>T (p.Ile4089Phe)
c.12184A>T (p.Ile4062Phe)
c.12127A>T (p.Ile4043Phe)
c.10213A>T (p.Ile3405Phe)
c.9391A>T (p.Ile3131Phe)
n.12231A>T
c.12433A>T (p.Ile4145Phe)
c.12361A>T (p.Ile4121Phe)
c.12223A>T (p.Ile4075Phe)
c.10309A>T (p.Ile3437Phe)
16g.2090416T>CCA394325518PKD1c.12313A>G (p.Ile4105Val)
c.12310A>G (p.Ile4104Val)
n.341A>G
c.9268A>G (p.Ile3090Val)
c.12391A>G (p.Ile4131Val)
c.12388A>G (p.Ile4130Val)
c.12373A>G (p.Ile4125Val)
c.12367A>G (p.Ile4123Val)
c.12364A>G (p.Ile4122Val)
c.12337A>G (p.Ile4113Val)
c.12319A>G (p.Ile4107Val)
c.12265A>G (p.Ile4089Val)
c.12184A>G (p.Ile4062Val)
c.12127A>G (p.Ile4043Val)
c.10213A>G (p.Ile3405Val)
c.9391A>G (p.Ile3131Val)
n.12231A>G
c.12433A>G (p.Ile4145Val)
c.12361A>G (p.Ile4121Val)
c.12223A>G (p.Ile4075Val)
c.10309A>G (p.Ile3437Val)
 dbSNP gnomAD v3 gnomAD v4
16g.2090416T>GCA7828690PKD1c.12313A>C (p.Ile4105Leu)
c.12310A>C (p.Ile4104Leu)
n.341A>C
c.9268A>C (p.Ile3090Leu)
c.12391A>C (p.Ile4131Leu)
c.12388A>C (p.Ile4130Leu)
c.12373A>C (p.Ile4125Leu)
c.12367A>C (p.Ile4123Leu)
c.12364A>C (p.Ile4122Leu)
c.12337A>C (p.Ile4113Leu)
c.12319A>C (p.Ile4107Leu)
c.12265A>C (p.Ile4089Leu)
c.12184A>C (p.Ile4062Leu)
c.12127A>C (p.Ile4043Leu)
c.10213A>C (p.Ile3405Leu)
c.9391A>C (p.Ile3131Leu)
n.12231A>C
c.12433A>C (p.Ile4145Leu)
c.12361A>C (p.Ile4121Leu)
c.12223A>C (p.Ile4075Leu)
c.10309A>C (p.Ile3437Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090416T=CA2202041704PKD1c.12313A= (p.Ile4105=)
c.12310A= (p.Ile4104=)
n.341A=
c.9268A= (p.Ile3090=)
c.12391A= (p.Ile4131=)
c.12388A= (p.Ile4130=)
c.12373A= (p.Ile4125=)
c.12367A= (p.Ile4123=)
c.12364A= (p.Ile4122=)
c.12337A= (p.Ile4113=)
c.12319A= (p.Ile4107=)
c.12265A= (p.Ile4089=)
c.12184A= (p.Ile4062=)
c.12127A= (p.Ile4043=)
c.10213A= (p.Ile3405=)
c.9391A= (p.Ile3131=)
n.12231A=
c.12433A= (p.Ile4145=)
c.12361A= (p.Ile4121=)
c.12223A= (p.Ile4075=)
c.10309A= (p.Ile3437=)
16g.2090416dupCA2695221520PKD1c.12313dup (p.Ile4105AsnfsTer?)
c.12310dup (p.Ile4104AsnfsTer?)
n.341dup
c.9268dup (p.Ile3090AsnfsTer?)
c.12391dup (p.Ile4131AsnfsTer?)
c.12388dup (p.Ile4130AsnfsTer?)
c.12373dup (p.Ile4125AsnfsTer?)
c.12367dup (p.Ile4123AsnfsTer?)
c.12364dup (p.Ile4122AsnfsTer?)
c.12337dup (p.Ile4113AsnfsTer?)
c.12319dup (p.Ile4107AsnfsTer?)
c.12265dup (p.Ile4089AsnfsTer?)
c.12184dup (p.Ile4062AsnfsTer?)
c.12127dup (p.Ile4043AsnfsTer?)
c.10213dup (p.Ile3405AsnfsTer?)
c.9391dup (p.Ile3131AsnfsTer?)
n.12231dup
c.12433dup (p.Ile4145AsnfsTer?)
c.12361dup (p.Ile4121AsnfsTer?)
c.12223dup (p.Ile4075AsnfsTer?)
c.10309dup (p.Ile3437AsnfsTer?)
16g.2090416_2090419delCA2695221519PKD1c.12310_12313del (p.Val4104PhefsTer?)
c.12307_12310del (p.Val4103PhefsTer?)
n.338_341del
c.9265_9268del (p.Val3089PhefsTer?)
c.12388_12391del (p.Val4130PhefsTer?)
c.12385_12388del (p.Val4129PhefsTer?)
c.12370_12373del (p.Val4124PhefsTer?)
c.12364_12367del (p.Val4122PhefsTer?)
c.12361_12364del (p.Val4121PhefsTer?)
c.12334_12337del (p.Val4112PhefsTer?)
c.12316_12319del (p.Val4106PhefsTer?)
c.12262_12265del (p.Val4088PhefsTer?)
c.12181_12184del (p.Val4061PhefsTer?)
c.12124_12127del (p.Val4042PhefsTer?)
c.10210_10213del (p.Val3404PhefsTer?)
c.9388_9391del (p.Val3130PhefsTer?)
n.12228_12231del
c.12430_12433del (p.Val4144PhefsTer?)
c.12358_12361del (p.Val4120PhefsTer?)
c.12220_12223del (p.Val4074PhefsTer?)
c.10306_10309del (p.Val3436PhefsTer?)
16g.2090416_2090419delinsTAACCA2202041703PKD1c.12310_12313delinsGTTA (p.Val4104=)
c.12307_12310delinsGTTA (p.Val4103=)
n.338_341delinsGTTA
c.9265_9268delinsGTTA (p.Val3089=)
c.12388_12391delinsGTTA (p.Val4130=)
c.12385_12388delinsGTTA (p.Val4129=)
c.12370_12373delinsGTTA (p.Val4124=)
c.12364_12367delinsGTTA (p.Val4122=)
c.12361_12364delinsGTTA (p.Val4121=)
c.12334_12337delinsGTTA (p.Val4112=)
c.12316_12319delinsGTTA (p.Val4106=)
c.12262_12265delinsGTTA (p.Val4088=)
c.12181_12184delinsGTTA (p.Val4061=)
c.12124_12127delinsGTTA (p.Val4042=)
c.10210_10213delinsGTTA (p.Val3404=)
c.9388_9391delinsGTTA (p.Val3130=)
n.12228_12231delinsGTTA
c.12430_12433delinsGTTA (p.Val4144=)
c.12358_12361delinsGTTA (p.Val4120=)
c.12220_12223delinsGTTA (p.Val4074=)
c.10306_10309delinsGTTA (p.Val3436=)
16g.2090416_2090419dupCA16620106PKD1c.12310_12313dup (p.Ile4105SerfsTer?)
c.12307_12310dup (p.Ile4104SerfsTer?)
n.338_341dup
c.9265_9268dup (p.Ile3090SerfsTer?)
c.12388_12391dup (p.Ile4131SerfsTer?)
c.12385_12388dup (p.Ile4130SerfsTer?)
c.12370_12373dup (p.Ile4125SerfsTer?)
c.12364_12367dup (p.Ile4123SerfsTer?)
c.12361_12364dup (p.Ile4122SerfsTer?)
c.12334_12337dup (p.Ile4113SerfsTer?)
c.12316_12319dup (p.Ile4107SerfsTer?)
c.12262_12265dup (p.Ile4089SerfsTer?)
c.12181_12184dup (p.Ile4062SerfsTer?)
c.12124_12127dup (p.Ile4043SerfsTer?)
c.10210_10213dup (p.Ile3405SerfsTer?)
c.9388_9391dup (p.Ile3131SerfsTer?)
n.12228_12231dup
c.12430_12433dup (p.Ile4145SerfsTer?)
c.12358_12361dup (p.Ile4121SerfsTer?)
c.12220_12223dup (p.Ile4075SerfsTer?)
c.10306_10309dup (p.Ile3437SerfsTer?)
 ClinVar dbSNP
16g.2090417A=CA2202041712PKD1c.12312T= (p.Val4104=)
c.12309T= (p.Val4103=)
n.340T=
c.9267T= (p.Val3089=)
c.12390T= (p.Val4130=)
c.12387T= (p.Val4129=)
c.12372T= (p.Val4124=)
c.12366T= (p.Val4122=)
c.12363T= (p.Val4121=)
c.12336T= (p.Val4112=)
c.12318T= (p.Val4106=)
c.12264T= (p.Val4088=)
c.12183T= (p.Val4061=)
c.12126T= (p.Val4042=)
c.10212T= (p.Val3404=)
c.9390T= (p.Val3130=)
n.12230T=
c.12432T= (p.Val4144=)
c.12360T= (p.Val4120=)
c.12222T= (p.Val4074=)
c.10308T= (p.Val3436=)
16g.2090417A>CCA493044381PKD1c.12312T>G (p.Val4104=)
c.12309T>G (p.Val4103=)
n.340T>G
c.9267T>G (p.Val3089=)
c.12390T>G (p.Val4130=)
c.12387T>G (p.Val4129=)
c.12372T>G (p.Val4124=)
c.12366T>G (p.Val4122=)
c.12363T>G (p.Val4121=)
c.12336T>G (p.Val4112=)
c.12318T>G (p.Val4106=)
c.12264T>G (p.Val4088=)
c.12183T>G (p.Val4061=)
c.12126T>G (p.Val4042=)
c.10212T>G (p.Val3404=)
c.9390T>G (p.Val3130=)
n.12230T>G
c.12432T>G (p.Val4144=)
c.12360T>G (p.Val4120=)
c.12222T>G (p.Val4074=)
c.10308T>G (p.Val3436=)
16g.2090417A>GCA7828691PKD1c.12312T>C (p.Val4104=)
c.12309T>C (p.Val4103=)
n.340T>C
c.9267T>C (p.Val3089=)
c.12390T>C (p.Val4130=)
c.12387T>C (p.Val4129=)
c.12372T>C (p.Val4124=)
c.12366T>C (p.Val4122=)
c.12363T>C (p.Val4121=)
c.12336T>C (p.Val4112=)
c.12318T>C (p.Val4106=)
c.12264T>C (p.Val4088=)
c.12183T>C (p.Val4061=)
c.12126T>C (p.Val4042=)
c.10212T>C (p.Val3404=)
c.9390T>C (p.Val3130=)
n.12230T>C
c.12432T>C (p.Val4144=)
c.12360T>C (p.Val4120=)
c.12222T>C (p.Val4074=)
c.10308T>C (p.Val3436=)
 dbSNP ExAC gnomAD v2
16g.2090417A>TCA493044382PKD1c.12312T>A (p.Val4104=)
c.12309T>A (p.Val4103=)
n.340T>A
c.9267T>A (p.Val3089=)
c.12390T>A (p.Val4130=)
c.12387T>A (p.Val4129=)
c.12372T>A (p.Val4124=)
c.12366T>A (p.Val4122=)
c.12363T>A (p.Val4121=)
c.12336T>A (p.Val4112=)
c.12318T>A (p.Val4106=)
c.12264T>A (p.Val4088=)
c.12183T>A (p.Val4061=)
c.12126T>A (p.Val4042=)
c.10212T>A (p.Val3404=)
c.9390T>A (p.Val3130=)
n.12230T>A
c.12432T>A (p.Val4144=)
c.12360T>A (p.Val4120=)
c.12222T>A (p.Val4074=)
c.10308T>A (p.Val3436=)
16g.2090417_2090419delinsAACCA2202041715PKD1c.12310_12312delinsGTT (p.Val4104=)
c.12307_12309delinsGTT (p.Val4103=)
n.338_340delinsGTT
c.9265_9267delinsGTT (p.Val3089=)
c.12388_12390delinsGTT (p.Val4130=)
c.12385_12387delinsGTT (p.Val4129=)
c.12370_12372delinsGTT (p.Val4124=)
c.12364_12366delinsGTT (p.Val4122=)
c.12361_12363delinsGTT (p.Val4121=)
c.12334_12336delinsGTT (p.Val4112=)
c.12316_12318delinsGTT (p.Val4106=)
c.12262_12264delinsGTT (p.Val4088=)
c.12181_12183delinsGTT (p.Val4061=)
c.12124_12126delinsGTT (p.Val4042=)
c.10210_10212delinsGTT (p.Val3404=)
c.9388_9390delinsGTT (p.Val3130=)
n.12228_12230delinsGTT
c.12430_12432delinsGTT (p.Val4144=)
c.12358_12360delinsGTT (p.Val4120=)
c.12220_12222delinsGTT (p.Val4074=)
c.10306_10308delinsGTT (p.Val3436=)
16g.2090418_2090420delCA718966366PKD1c.12310_12312del (p.Val4104del)
c.12307_12309del (p.Val4103del)
n.338_340del
c.9265_9267del (p.Val3089del)
c.12388_12390del (p.Val4130del)
c.12385_12387del (p.Val4129del)
c.12370_12372del (p.Val4124del)
c.12364_12366del (p.Val4122del)
c.12361_12363del (p.Val4121del)
c.12334_12336del (p.Val4112del)
c.12316_12318del (p.Val4106del)
c.12262_12264del (p.Val4088del)
c.12181_12183del (p.Val4061del)
c.12124_12126del (p.Val4042del)
c.10210_10212del (p.Val3404del)
c.9388_9390del (p.Val3130del)
n.12228_12230del
c.12430_12432del (p.Val4144del)
c.12358_12360del (p.Val4120del)
c.12220_12222del (p.Val4074del)
c.10306_10308del (p.Val3436del)
 dbSNP gnomAD v4
16g.2090418A>CCA394325539PKD1c.12311T>G (p.Val4104Gly)
c.12308T>G (p.Val4103Gly)
n.339T>G
c.9266T>G (p.Val3089Gly)
c.12389T>G (p.Val4130Gly)
c.12386T>G (p.Val4129Gly)
c.12371T>G (p.Val4124Gly)
c.12365T>G (p.Val4122Gly)
c.12362T>G (p.Val4121Gly)
c.12335T>G (p.Val4112Gly)
c.12317T>G (p.Val4106Gly)
c.12263T>G (p.Val4088Gly)
c.12182T>G (p.Val4061Gly)
c.12125T>G (p.Val4042Gly)
c.10211T>G (p.Val3404Gly)
c.9389T>G (p.Val3130Gly)
n.12229T>G
c.12431T>G (p.Val4144Gly)
c.12359T>G (p.Val4120Gly)
c.12221T>G (p.Val4074Gly)
c.10307T>G (p.Val3436Gly)
16g.2090418A>GCA394325530PKD1c.12311T>C (p.Val4104Ala)
c.12308T>C (p.Val4103Ala)
n.339T>C
c.9266T>C (p.Val3089Ala)
c.12389T>C (p.Val4130Ala)
c.12386T>C (p.Val4129Ala)
c.12371T>C (p.Val4124Ala)
c.12365T>C (p.Val4122Ala)
c.12362T>C (p.Val4121Ala)
c.12335T>C (p.Val4112Ala)
c.12317T>C (p.Val4106Ala)
c.12263T>C (p.Val4088Ala)
c.12182T>C (p.Val4061Ala)
c.12125T>C (p.Val4042Ala)
c.10211T>C (p.Val3404Ala)
c.9389T>C (p.Val3130Ala)
n.12229T>C
c.12431T>C (p.Val4144Ala)
c.12359T>C (p.Val4120Ala)
c.12221T>C (p.Val4074Ala)
c.10307T>C (p.Val3436Ala)
16g.2090418A>TCA394325527PKD1c.12311T>A (p.Val4104Asp)
c.12308T>A (p.Val4103Asp)
n.339T>A
c.9266T>A (p.Val3089Asp)
c.12389T>A (p.Val4130Asp)
c.12386T>A (p.Val4129Asp)
c.12371T>A (p.Val4124Asp)
c.12365T>A (p.Val4122Asp)
c.12362T>A (p.Val4121Asp)
c.12335T>A (p.Val4112Asp)
c.12317T>A (p.Val4106Asp)
c.12263T>A (p.Val4088Asp)
c.12182T>A (p.Val4061Asp)
c.12125T>A (p.Val4042Asp)
c.10211T>A (p.Val3404Asp)
c.9389T>A (p.Val3130Asp)
n.12229T>A
c.12431T>A (p.Val4144Asp)
c.12359T>A (p.Val4120Asp)
c.12221T>A (p.Val4074Asp)
c.10307T>A (p.Val3436Asp)
16g.2090419_2090420delCA16609451PKD1c.12310_12311del (p.Val4104TyrfsTer?)
c.12307_12308del (p.Val4103TyrfsTer?)
n.338_339del
c.9265_9266del (p.Val3089TyrfsTer?)
c.12388_12389del (p.Val4130TyrfsTer?)
c.12385_12386del (p.Val4129TyrfsTer?)
c.12370_12371del (p.Val4124TyrfsTer?)
c.12364_12365del (p.Val4122TyrfsTer?)
c.12361_12362del (p.Val4121TyrfsTer?)
c.12334_12335del (p.Val4112TyrfsTer?)
c.12316_12317del (p.Val4106TyrfsTer?)
c.12262_12263del (p.Val4088TyrfsTer?)
c.12181_12182del (p.Val4061TyrfsTer?)
c.12124_12125del (p.Val4042TyrfsTer?)
c.10210_10211del (p.Val3404TyrfsTer?)
c.9388_9389del (p.Val3130TyrfsTer?)
n.12228_12229del
c.12430_12431del (p.Val4144TyrfsTer?)
c.12358_12359del (p.Val4120TyrfsTer?)
c.12220_12221del (p.Val4074TyrfsTer?)
c.10306_10307del (p.Val3436TyrfsTer?)
 ClinVar dbSNP
16g.2090419C>ACA394325541PKD1c.12310G>T (p.Val4104Phe)
c.12307G>T (p.Val4103Phe)
n.338G>T
c.9265G>T (p.Val3089Phe)
c.12388G>T (p.Val4130Phe)
c.12385G>T (p.Val4129Phe)
c.12370G>T (p.Val4124Phe)
c.12364G>T (p.Val4122Phe)
c.12361G>T (p.Val4121Phe)
c.12334G>T (p.Val4112Phe)
c.12316G>T (p.Val4106Phe)
c.12262G>T (p.Val4088Phe)
c.12181G>T (p.Val4061Phe)
c.12124G>T (p.Val4042Phe)
c.10210G>T (p.Val3404Phe)
c.9388G>T (p.Val3130Phe)
n.12228G>T
c.12430G>T (p.Val4144Phe)
c.12358G>T (p.Val4120Phe)
c.12220G>T (p.Val4074Phe)
c.10306G>T (p.Val3436Phe)
16g.2090419C>GCA394325543PKD1c.12310G>C (p.Val4104Leu)
c.12307G>C (p.Val4103Leu)
n.338G>C
c.9265G>C (p.Val3089Leu)
c.12388G>C (p.Val4130Leu)
c.12385G>C (p.Val4129Leu)
c.12370G>C (p.Val4124Leu)
c.12364G>C (p.Val4122Leu)
c.12361G>C (p.Val4121Leu)
c.12334G>C (p.Val4112Leu)
c.12316G>C (p.Val4106Leu)
c.12262G>C (p.Val4088Leu)
c.12181G>C (p.Val4061Leu)
c.12124G>C (p.Val4042Leu)
c.10210G>C (p.Val3404Leu)
c.9388G>C (p.Val3130Leu)
n.12228G>C
c.12430G>C (p.Val4144Leu)
c.12358G>C (p.Val4120Leu)
c.12220G>C (p.Val4074Leu)
c.10306G>C (p.Val3436Leu)
16g.2090419C>TCA394325542PKD1c.12310G>A (p.Val4104Ile)
c.12307G>A (p.Val4103Ile)
n.338G>A
c.9265G>A (p.Val3089Ile)
c.12388G>A (p.Val4130Ile)
c.12385G>A (p.Val4129Ile)
c.12370G>A (p.Val4124Ile)
c.12364G>A (p.Val4122Ile)
c.12361G>A (p.Val4121Ile)
c.12334G>A (p.Val4112Ile)
c.12316G>A (p.Val4106Ile)
c.12262G>A (p.Val4088Ile)
c.12181G>A (p.Val4061Ile)
c.12124G>A (p.Val4042Ile)
c.10210G>A (p.Val3404Ile)
c.9388G>A (p.Val3130Ile)
n.12228G>A
c.12430G>A (p.Val4144Ile)
c.12358G>A (p.Val4120Ile)
c.12220G>A (p.Val4074Ile)
c.10306G>A (p.Val3436Ile)

Number of alleles fetched