Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2094116_2094137dupCA2573332656PKD1,PKD1-AS1c.10573_10594dup (p.Gln3532ArgfsTer?)
c.10570_10591dup (p.Gln3531ArgfsTer?)
n.10_31dup
c.5135_5156dup (n.5135_5156dup)
c.7528_7549dup (p.Gln2517ArgfsTer?)
c.10651_10672dup (p.Gln3558ArgfsTer?)
c.10648_10669dup (p.Gln3557ArgfsTer?)
c.10633_10654dup (p.Gln3552ArgfsTer?)
c.10627_10648dup (p.Gln3550ArgfsTer?)
c.10624_10645dup (p.Gln3549ArgfsTer?)
c.10597_10618dup (p.Gln3540ArgfsTer?)
c.10579_10600dup (p.Gln3534ArgfsTer?)
c.10525_10546dup (p.Gln3516ArgfsTer?)
c.10444_10465dup (p.Gln3489ArgfsTer?)
c.10387_10408dup (p.Gln3470ArgfsTer?)
c.8473_8494dup (p.Gln2832ArgfsTer?)
c.7651_7672dup (p.Gln2558ArgfsTer?)
n.10666_10687dup
n.214-562_214-541dup
n.304-605_304-584dup
n.213-562_213-541dup
n.213-605_213-584dup
c.10693_10714dup (p.Gln3572ArgfsTer?)
c.10621_10642dup (p.Gln3548ArgfsTer?)
c.10483_10504dup (p.Gln3502ArgfsTer?)
c.8569_8590dup (p.Gln2864ArgfsTer?)
16g.2094124_2094158delinsTCCCAGTTCAGGCCTGGGCTGGGTGGCCCCAGCTCCA2202026180PKD1,PKD1-AS1c.10552_10586delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (p.Glu3518=)
c.10549_10583delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (p.Glu3517=)
c.5114_5148delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (n.5114_5148delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA)
c.7507_7541delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (p.Glu2503=)
c.10630_10664delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (p.Glu3544=)
c.10627_10661delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (p.Glu3543=)
c.10612_10646delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (p.Glu3538=)
c.10606_10640delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (p.Glu3536=)
c.10603_10637delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (p.Glu3535=)
c.10576_10610delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (p.Glu3526=)
c.10558_10592delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (p.Glu3520=)
c.10504_10538delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (p.Glu3502=)
c.10423_10457delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (p.Glu3475=)
c.10366_10400delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (p.Glu3456=)
c.8452_8486delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (p.Glu2818=)
c.7630_7664delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (p.Glu2544=)
n.10645_10679delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA
n.214-554_214-520delinsTCCCAGTTCAGGCCTGGGCTGGGTGGCCCCAGCTC
n.304-597_304-563delinsTCCCAGTTCAGGCCTGGGCTGGGTGGCCCCAGCTC
n.213-554_213-520delinsTCCCAGTTCAGGCCTGGGCTGGGTGGCCCCAGCTC
n.213-597_213-563delinsTCCCAGTTCAGGCCTGGGCTGGGTGGCCCCAGCTC
c.10672_10706delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (p.Glu3558=)
c.10600_10634delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (p.Glu3534=)
c.10462_10496delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (p.Glu3488=)
c.8548_8582delinsGAGCTGGGGCCACCCAGCCCAGGCCTGAACTGGGA (p.Glu2850=)
16g.2094128_2094161delCA913191025PKD1,PKD1-AS1c.10552_10585del (p.Glu3518AsnfsTer?)
c.10549_10582del (p.Glu3517AsnfsTer?)
c.5114_5147del (n.5114_5147del)
c.7507_7540del (p.Glu2503AsnfsTer?)
c.10630_10663del (p.Glu3544AsnfsTer?)
c.10627_10660del (p.Glu3543AsnfsTer?)
c.10612_10645del (p.Glu3538AsnfsTer?)
c.10606_10639del (p.Glu3536AsnfsTer?)
c.10603_10636del (p.Glu3535AsnfsTer?)
c.10576_10609del (p.Glu3526AsnfsTer?)
c.10558_10591del (p.Glu3520AsnfsTer?)
c.10504_10537del (p.Glu3502AsnfsTer?)
c.10423_10456del (p.Glu3475AsnfsTer?)
c.10366_10399del (p.Glu3456AsnfsTer?)
c.8452_8485del (p.Glu2818AsnfsTer?)
c.7630_7663del (p.Glu2544AsnfsTer?)
n.10645_10678del
n.214-550_214-517del
n.304-593_304-560del
n.213-550_213-517del
n.213-593_213-560del
c.10672_10705del (p.Glu3558AsnfsTer?)
c.10600_10633del (p.Glu3534AsnfsTer?)
c.10462_10495del (p.Glu3488AsnfsTer?)
c.8548_8581del (p.Glu2850AsnfsTer?)
 ClinVar dbSNP
16g.2094127C>ACA394341463PKD1,PKD1-AS1c.10583G>T (p.Trp3528Leu)
c.10580G>T (p.Trp3527Leu)
n.20G>T
c.5145G>T (n.5145G>T)
c.7538G>T (p.Trp2513Leu)
c.10661G>T (p.Trp3554Leu)
c.10658G>T (p.Trp3553Leu)
c.10643G>T (p.Trp3548Leu)
c.10637G>T (p.Trp3546Leu)
c.10634G>T (p.Trp3545Leu)
c.10607G>T (p.Trp3536Leu)
c.10589G>T (p.Trp3530Leu)
c.10535G>T (p.Trp3512Leu)
c.10454G>T (p.Trp3485Leu)
c.10397G>T (p.Trp3466Leu)
c.8483G>T (p.Trp2828Leu)
c.7661G>T (p.Trp2554Leu)
n.10676G>T
n.214-551C>A
n.304-594C>A
n.213-551C>A
n.213-594C>A
c.10703G>T (p.Trp3568Leu)
c.10631G>T (p.Trp3544Leu)
c.10493G>T (p.Trp3498Leu)
c.8579G>T (p.Trp2860Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.2094127C=CA2202026192PKD1,PKD1-AS1c.10583G= (p.Trp3528=)
c.10580G= (p.Trp3527=)
n.20G=
c.5145G= (n.5145G=)
c.7538G= (p.Trp2513=)
c.10661G= (p.Trp3554=)
c.10658G= (p.Trp3553=)
c.10643G= (p.Trp3548=)
c.10637G= (p.Trp3546=)
c.10634G= (p.Trp3545=)
c.10607G= (p.Trp3536=)
c.10589G= (p.Trp3530=)
c.10535G= (p.Trp3512=)
c.10454G= (p.Trp3485=)
c.10397G= (p.Trp3466=)
c.8483G= (p.Trp2828=)
c.7661G= (p.Trp2554=)
n.10676G=
n.214-551C=
n.304-594C=
n.213-551C=
n.213-594C=
c.10703G= (p.Trp3568=)
c.10631G= (p.Trp3544=)
c.10493G= (p.Trp3498=)
c.8579G= (p.Trp2860=)
16g.2094127C>GCA394341471PKD1,PKD1-AS1c.10583G>C (p.Trp3528Ser)
c.10580G>C (p.Trp3527Ser)
n.20G>C
c.5145G>C (n.5145G>C)
c.7538G>C (p.Trp2513Ser)
c.10661G>C (p.Trp3554Ser)
c.10658G>C (p.Trp3553Ser)
c.10643G>C (p.Trp3548Ser)
c.10637G>C (p.Trp3546Ser)
c.10634G>C (p.Trp3545Ser)
c.10607G>C (p.Trp3536Ser)
c.10589G>C (p.Trp3530Ser)
c.10535G>C (p.Trp3512Ser)
c.10454G>C (p.Trp3485Ser)
c.10397G>C (p.Trp3466Ser)
c.8483G>C (p.Trp2828Ser)
c.7661G>C (p.Trp2554Ser)
n.10676G>C
n.214-551C>G
n.304-594C>G
n.213-551C>G
n.213-594C>G
c.10703G>C (p.Trp3568Ser)
c.10631G>C (p.Trp3544Ser)
c.10493G>C (p.Trp3498Ser)
c.8579G>C (p.Trp2860Ser)
16g.2094127C>TCA10654768PKD1,PKD1-AS1c.10583G>A (p.Trp3528Ter)
c.10580G>A (p.Trp3527Ter)
n.20G>A
c.5145G>A (n.5145G>A)
c.7538G>A (p.Trp2513Ter)
c.10661G>A (p.Trp3554Ter)
c.10658G>A (p.Trp3553Ter)
c.10643G>A (p.Trp3548Ter)
c.10637G>A (p.Trp3546Ter)
c.10634G>A (p.Trp3545Ter)
c.10607G>A (p.Trp3536Ter)
c.10589G>A (p.Trp3530Ter)
c.10535G>A (p.Trp3512Ter)
c.10454G>A (p.Trp3485Ter)
c.10397G>A (p.Trp3466Ter)
c.8483G>A (p.Trp2828Ter)
c.7661G>A (p.Trp2554Ter)
n.10676G>A
n.214-551C>T
n.304-594C>T
n.213-551C>T
n.213-594C>T
c.10703G>A (p.Trp3568Ter)
c.10631G>A (p.Trp3544Ter)
c.10493G>A (p.Trp3498Ter)
c.8579G>A (p.Trp2860Ter)
 ClinVar dbSNP gnomAD v4
16g.2094128A=CA2202026204PKD1,PKD1-AS1c.10582T= (p.Trp3528=)
c.10579T= (p.Trp3527=)
n.19T=
c.5144T= (n.5144T=)
c.7537T= (p.Trp2513=)
c.10660T= (p.Trp3554=)
c.10657T= (p.Trp3553=)
c.10642T= (p.Trp3548=)
c.10636T= (p.Trp3546=)
c.10633T= (p.Trp3545=)
c.10606T= (p.Trp3536=)
c.10588T= (p.Trp3530=)
c.10534T= (p.Trp3512=)
c.10453T= (p.Trp3485=)
c.10396T= (p.Trp3466=)
c.8482T= (p.Trp2828=)
c.7660T= (p.Trp2554=)
n.10675T=
n.214-550A=
n.304-593A=
n.213-550A=
n.213-593A=
c.10702T= (p.Trp3568=)
c.10630T= (p.Trp3544=)
c.10492T= (p.Trp3498=)
c.8578T= (p.Trp2860=)
16g.2094128A>CCA394341478PKD1,PKD1-AS1c.10582T>G (p.Trp3528Gly)
c.10579T>G (p.Trp3527Gly)
n.19T>G
c.5144T>G (n.5144T>G)
c.7537T>G (p.Trp2513Gly)
c.10660T>G (p.Trp3554Gly)
c.10657T>G (p.Trp3553Gly)
c.10642T>G (p.Trp3548Gly)
c.10636T>G (p.Trp3546Gly)
c.10633T>G (p.Trp3545Gly)
c.10606T>G (p.Trp3536Gly)
c.10588T>G (p.Trp3530Gly)
c.10534T>G (p.Trp3512Gly)
c.10453T>G (p.Trp3485Gly)
c.10396T>G (p.Trp3466Gly)
c.8482T>G (p.Trp2828Gly)
c.7660T>G (p.Trp2554Gly)
n.10675T>G
n.214-550A>C
n.304-593A>C
n.213-550A>C
n.213-593A>C
c.10702T>G (p.Trp3568Gly)
c.10630T>G (p.Trp3544Gly)
c.10492T>G (p.Trp3498Gly)
c.8578T>G (p.Trp2860Gly)
16g.2094128A>GCA7829515PKD1,PKD1-AS1c.10582T>C (p.Trp3528Arg)
c.10579T>C (p.Trp3527Arg)
n.19T>C
c.5144T>C (n.5144T>C)
c.7537T>C (p.Trp2513Arg)
c.10660T>C (p.Trp3554Arg)
c.10657T>C (p.Trp3553Arg)
c.10642T>C (p.Trp3548Arg)
c.10636T>C (p.Trp3546Arg)
c.10633T>C (p.Trp3545Arg)
c.10606T>C (p.Trp3536Arg)
c.10588T>C (p.Trp3530Arg)
c.10534T>C (p.Trp3512Arg)
c.10453T>C (p.Trp3485Arg)
c.10396T>C (p.Trp3466Arg)
c.8482T>C (p.Trp2828Arg)
c.7660T>C (p.Trp2554Arg)
n.10675T>C
n.214-550A>G
n.304-593A>G
n.213-550A>G
n.213-593A>G
c.10702T>C (p.Trp3568Arg)
c.10630T>C (p.Trp3544Arg)
c.10492T>C (p.Trp3498Arg)
c.8578T>C (p.Trp2860Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2094128A>TCA394341483PKD1,PKD1-AS1c.10582T>A (p.Trp3528Arg)
c.10579T>A (p.Trp3527Arg)
n.19T>A
c.5144T>A (n.5144T>A)
c.7537T>A (p.Trp2513Arg)
c.10660T>A (p.Trp3554Arg)
c.10657T>A (p.Trp3553Arg)
c.10642T>A (p.Trp3548Arg)
c.10636T>A (p.Trp3546Arg)
c.10633T>A (p.Trp3545Arg)
c.10606T>A (p.Trp3536Arg)
c.10588T>A (p.Trp3530Arg)
c.10534T>A (p.Trp3512Arg)
c.10453T>A (p.Trp3485Arg)
c.10396T>A (p.Trp3466Arg)
c.8482T>A (p.Trp2828Arg)
c.7660T>A (p.Trp2554Arg)
n.10675T>A
n.214-550A>T
n.304-593A>T
n.213-550A>T
n.213-593A>T
c.10702T>A (p.Trp3568Arg)
c.10630T>A (p.Trp3544Arg)
c.10492T>A (p.Trp3498Arg)
c.8578T>A (p.Trp2860Arg)
16g.2094129G>ACA493044980PKD1,PKD1-AS1c.10581C>T (p.Asn3527=)
c.10578C>T (p.Asn3526=)
n.18C>T
c.5143C>T (n.5143C>T)
c.7536C>T (p.Asn2512=)
c.10659C>T (p.Asn3553=)
c.10656C>T (p.Asn3552=)
c.10641C>T (p.Asn3547=)
c.10635C>T (p.Asn3545=)
c.10632C>T (p.Asn3544=)
c.10605C>T (p.Asn3535=)
c.10587C>T (p.Asn3529=)
c.10533C>T (p.Asn3511=)
c.10452C>T (p.Asn3484=)
c.10395C>T (p.Asn3465=)
c.8481C>T (p.Asn2827=)
c.7659C>T (p.Asn2553=)
n.10674C>T
n.214-549G>A
n.304-592G>A
n.213-549G>A
n.213-592G>A
c.10701C>T (p.Asn3567=)
c.10629C>T (p.Asn3543=)
c.10491C>T (p.Asn3497=)
c.8577C>T (p.Asn2859=)
 dbSNP gnomAD v2 gnomAD v4
16g.2094129G>CCA394341485PKD1,PKD1-AS1c.10581C>G (p.Asn3527Lys)
c.10578C>G (p.Asn3526Lys)
n.18C>G
c.5143C>G (n.5143C>G)
c.7536C>G (p.Asn2512Lys)
c.10659C>G (p.Asn3553Lys)
c.10656C>G (p.Asn3552Lys)
c.10641C>G (p.Asn3547Lys)
c.10635C>G (p.Asn3545Lys)
c.10632C>G (p.Asn3544Lys)
c.10605C>G (p.Asn3535Lys)
c.10587C>G (p.Asn3529Lys)
c.10533C>G (p.Asn3511Lys)
c.10452C>G (p.Asn3484Lys)
c.10395C>G (p.Asn3465Lys)
c.8481C>G (p.Asn2827Lys)
c.7659C>G (p.Asn2553Lys)
n.10674C>G
n.214-549G>C
n.304-592G>C
n.213-549G>C
n.213-592G>C
c.10701C>G (p.Asn3567Lys)
c.10629C>G (p.Asn3543Lys)
c.10491C>G (p.Asn3497Lys)
c.8577C>G (p.Asn2859Lys)
 gnomAD v4
16g.2094129G=CA2202026205PKD1,PKD1-AS1c.10581C= (p.Asn3527=)
c.10578C= (p.Asn3526=)
n.18C=
c.5143C= (n.5143C=)
c.7536C= (p.Asn2512=)
c.10659C= (p.Asn3553=)
c.10656C= (p.Asn3552=)
c.10641C= (p.Asn3547=)
c.10635C= (p.Asn3545=)
c.10632C= (p.Asn3544=)
c.10605C= (p.Asn3535=)
c.10587C= (p.Asn3529=)
c.10533C= (p.Asn3511=)
c.10452C= (p.Asn3484=)
c.10395C= (p.Asn3465=)
c.8481C= (p.Asn2827=)
c.7659C= (p.Asn2553=)
n.10674C=
n.214-549G=
n.304-592G=
n.213-549G=
n.213-592G=
c.10701C= (p.Asn3567=)
c.10629C= (p.Asn3543=)
c.10491C= (p.Asn3497=)
c.8577C= (p.Asn2859=)
16g.2094129G>TCA394341487PKD1,PKD1-AS1c.10581C>A (p.Asn3527Lys)
c.10578C>A (p.Asn3526Lys)
n.18C>A
c.5143C>A (n.5143C>A)
c.7536C>A (p.Asn2512Lys)
c.10659C>A (p.Asn3553Lys)
c.10656C>A (p.Asn3552Lys)
c.10641C>A (p.Asn3547Lys)
c.10635C>A (p.Asn3545Lys)
c.10632C>A (p.Asn3544Lys)
c.10605C>A (p.Asn3535Lys)
c.10587C>A (p.Asn3529Lys)
c.10533C>A (p.Asn3511Lys)
c.10452C>A (p.Asn3484Lys)
c.10395C>A (p.Asn3465Lys)
c.8481C>A (p.Asn2827Lys)
c.7659C>A (p.Asn2553Lys)
n.10674C>A
n.214-549G>T
n.304-592G>T
n.213-549G>T
n.213-592G>T
c.10701C>A (p.Asn3567Lys)
c.10629C>A (p.Asn3543Lys)
c.10491C>A (p.Asn3497Lys)
c.8577C>A (p.Asn2859Lys)
 gnomAD v4
16g.2094130T>ACA394341492PKD1,PKD1-AS1c.10580A>T (p.Asn3527Ile)
c.10577A>T (p.Asn3526Ile)
n.17A>T
c.5142A>T (n.5142A>T)
c.7535A>T (p.Asn2512Ile)
c.10658A>T (p.Asn3553Ile)
c.10655A>T (p.Asn3552Ile)
c.10640A>T (p.Asn3547Ile)
c.10634A>T (p.Asn3545Ile)
c.10631A>T (p.Asn3544Ile)
c.10604A>T (p.Asn3535Ile)
c.10586A>T (p.Asn3529Ile)
c.10532A>T (p.Asn3511Ile)
c.10451A>T (p.Asn3484Ile)
c.10394A>T (p.Asn3465Ile)
c.8480A>T (p.Asn2827Ile)
c.7658A>T (p.Asn2553Ile)
n.10673A>T
n.214-548T>A
n.304-591T>A
n.213-548T>A
n.213-591T>A
c.10700A>T (p.Asn3567Ile)
c.10628A>T (p.Asn3543Ile)
c.10490A>T (p.Asn3497Ile)
c.8576A>T (p.Asn2859Ile)
16g.2094130T>CCA394341495PKD1,PKD1-AS1c.10580A>G (p.Asn3527Ser)
c.10577A>G (p.Asn3526Ser)
n.17A>G
c.5142A>G (n.5142A>G)
c.7535A>G (p.Asn2512Ser)
c.10658A>G (p.Asn3553Ser)
c.10655A>G (p.Asn3552Ser)
c.10640A>G (p.Asn3547Ser)
c.10634A>G (p.Asn3545Ser)
c.10631A>G (p.Asn3544Ser)
c.10604A>G (p.Asn3535Ser)
c.10586A>G (p.Asn3529Ser)
c.10532A>G (p.Asn3511Ser)
c.10451A>G (p.Asn3484Ser)
c.10394A>G (p.Asn3465Ser)
c.8480A>G (p.Asn2827Ser)
c.7658A>G (p.Asn2553Ser)
n.10673A>G
n.214-548T>C
n.304-591T>C
n.213-548T>C
n.213-591T>C
c.10700A>G (p.Asn3567Ser)
c.10628A>G (p.Asn3543Ser)
c.10490A>G (p.Asn3497Ser)
c.8576A>G (p.Asn2859Ser)
16g.2094130T>GCA394341497PKD1,PKD1-AS1c.10580A>C (p.Asn3527Thr)
c.10577A>C (p.Asn3526Thr)
n.17A>C
c.5142A>C (n.5142A>C)
c.7535A>C (p.Asn2512Thr)
c.10658A>C (p.Asn3553Thr)
c.10655A>C (p.Asn3552Thr)
c.10640A>C (p.Asn3547Thr)
c.10634A>C (p.Asn3545Thr)
c.10631A>C (p.Asn3544Thr)
c.10604A>C (p.Asn3535Thr)
c.10586A>C (p.Asn3529Thr)
c.10532A>C (p.Asn3511Thr)
c.10451A>C (p.Asn3484Thr)
c.10394A>C (p.Asn3465Thr)
c.8480A>C (p.Asn2827Thr)
c.7658A>C (p.Asn2553Thr)
n.10673A>C
n.214-548T>G
n.304-591T>G
n.213-548T>G
n.213-591T>G
c.10700A>C (p.Asn3567Thr)
c.10628A>C (p.Asn3543Thr)
c.10490A>C (p.Asn3497Thr)
c.8576A>C (p.Asn2859Thr)
16g.2094131T>ACA394341501PKD1,PKD1-AS1c.10579A>T (p.Asn3527Tyr)
c.10576A>T (p.Asn3526Tyr)
n.16A>T
c.5141A>T (n.5141A>T)
c.7534A>T (p.Asn2512Tyr)
c.10657A>T (p.Asn3553Tyr)
c.10654A>T (p.Asn3552Tyr)
c.10639A>T (p.Asn3547Tyr)
c.10633A>T (p.Asn3545Tyr)
c.10630A>T (p.Asn3544Tyr)
c.10603A>T (p.Asn3535Tyr)
c.10585A>T (p.Asn3529Tyr)
c.10531A>T (p.Asn3511Tyr)
c.10450A>T (p.Asn3484Tyr)
c.10393A>T (p.Asn3465Tyr)
c.8479A>T (p.Asn2827Tyr)
c.7657A>T (p.Asn2553Tyr)
n.10672A>T
n.214-547T>A
n.304-590T>A
n.213-547T>A
n.213-590T>A
c.10699A>T (p.Asn3567Tyr)
c.10627A>T (p.Asn3543Tyr)
c.10489A>T (p.Asn3497Tyr)
c.8575A>T (p.Asn2859Tyr)
16g.2094131T>CCA394341502PKD1,PKD1-AS1c.10579A>G (p.Asn3527Asp)
c.10576A>G (p.Asn3526Asp)
n.16A>G
c.5141A>G (n.5141A>G)
c.7534A>G (p.Asn2512Asp)
c.10657A>G (p.Asn3553Asp)
c.10654A>G (p.Asn3552Asp)
c.10639A>G (p.Asn3547Asp)
c.10633A>G (p.Asn3545Asp)
c.10630A>G (p.Asn3544Asp)
c.10603A>G (p.Asn3535Asp)
c.10585A>G (p.Asn3529Asp)
c.10531A>G (p.Asn3511Asp)
c.10450A>G (p.Asn3484Asp)
c.10393A>G (p.Asn3465Asp)
c.8479A>G (p.Asn2827Asp)
c.7657A>G (p.Asn2553Asp)
n.10672A>G
n.214-547T>C
n.304-590T>C
n.213-547T>C
n.213-590T>C
c.10699A>G (p.Asn3567Asp)
c.10627A>G (p.Asn3543Asp)
c.10489A>G (p.Asn3497Asp)
c.8575A>G (p.Asn2859Asp)
 dbSNP gnomAD v2 gnomAD v4
16g.2094131T>GCA394341505PKD1,PKD1-AS1c.10579A>C (p.Asn3527His)
c.10576A>C (p.Asn3526His)
n.16A>C
c.5141A>C (n.5141A>C)
c.7534A>C (p.Asn2512His)
c.10657A>C (p.Asn3553His)
c.10654A>C (p.Asn3552His)
c.10639A>C (p.Asn3547His)
c.10633A>C (p.Asn3545His)
c.10630A>C (p.Asn3544His)
c.10603A>C (p.Asn3535His)
c.10585A>C (p.Asn3529His)
c.10531A>C (p.Asn3511His)
c.10450A>C (p.Asn3484His)
c.10393A>C (p.Asn3465His)
c.8479A>C (p.Asn2827His)
c.7657A>C (p.Asn2553His)
n.10672A>C
n.214-547T>G
n.304-590T>G
n.213-547T>G
n.213-590T>G
c.10699A>C (p.Asn3567His)
c.10627A>C (p.Asn3543His)
c.10489A>C (p.Asn3497His)
c.8575A>C (p.Asn2859His)
16g.2094131T=CA2202026210PKD1,PKD1-AS1c.10579A= (p.Asn3527=)
c.10576A= (p.Asn3526=)
n.16A=
c.5141A= (n.5141A=)
c.7534A= (p.Asn2512=)
c.10657A= (p.Asn3553=)
c.10654A= (p.Asn3552=)
c.10639A= (p.Asn3547=)
c.10633A= (p.Asn3545=)
c.10630A= (p.Asn3544=)
c.10603A= (p.Asn3535=)
c.10585A= (p.Asn3529=)
c.10531A= (p.Asn3511=)
c.10450A= (p.Asn3484=)
c.10393A= (p.Asn3465=)
c.8479A= (p.Asn2827=)
c.7657A= (p.Asn2553=)
n.10672A=
n.214-547T=
n.304-590T=
n.213-547T=
n.213-590T=
c.10699A= (p.Asn3567=)
c.10627A= (p.Asn3543=)
c.10489A= (p.Asn3497=)
c.8575A= (p.Asn2859=)
16g.2094132C>ACA7829517PKD1,PKD1-AS1c.10578G>T (p.Leu3526=)
c.10575G>T (p.Leu3525=)
n.15G>T
c.5140G>T (n.5140G>T)
c.7533G>T (p.Leu2511=)
c.10656G>T (p.Leu3552=)
c.10653G>T (p.Leu3551=)
c.10638G>T (p.Leu3546=)
c.10632G>T (p.Leu3544=)
c.10629G>T (p.Leu3543=)
c.10602G>T (p.Leu3534=)
c.10584G>T (p.Leu3528=)
c.10530G>T (p.Leu3510=)
c.10449G>T (p.Leu3483=)
c.10392G>T (p.Leu3464=)
c.8478G>T (p.Leu2826=)
c.7656G>T (p.Leu2552=)
n.10671G>T
n.214-546C>A
n.304-589C>A
n.213-546C>A
n.213-589C>A
c.10698G>T (p.Leu3566=)
c.10626G>T (p.Leu3542=)
c.10488G>T (p.Leu3496=)
c.8574G>T (p.Leu2858=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2094132C=CA2202026219PKD1,PKD1-AS1c.10578G= (p.Leu3526=)
c.10575G= (p.Leu3525=)
n.15G=
c.5140G= (n.5140G=)
c.7533G= (p.Leu2511=)
c.10656G= (p.Leu3552=)
c.10653G= (p.Leu3551=)
c.10638G= (p.Leu3546=)
c.10632G= (p.Leu3544=)
c.10629G= (p.Leu3543=)
c.10602G= (p.Leu3534=)
c.10584G= (p.Leu3528=)
c.10530G= (p.Leu3510=)
c.10449G= (p.Leu3483=)
c.10392G= (p.Leu3464=)
c.8478G= (p.Leu2826=)
c.7656G= (p.Leu2552=)
n.10671G=
n.214-546C=
n.304-589C=
n.213-546C=
n.213-589C=
c.10698G= (p.Leu3566=)
c.10626G= (p.Leu3542=)
c.10488G= (p.Leu3496=)
c.8574G= (p.Leu2858=)
16g.2094132C>GCA493044981PKD1,PKD1-AS1c.10578G>C (p.Leu3526=)
c.10575G>C (p.Leu3525=)
n.15G>C
c.5140G>C (n.5140G>C)
c.7533G>C (p.Leu2511=)
c.10656G>C (p.Leu3552=)
c.10653G>C (p.Leu3551=)
c.10638G>C (p.Leu3546=)
c.10632G>C (p.Leu3544=)
c.10629G>C (p.Leu3543=)
c.10602G>C (p.Leu3534=)
c.10584G>C (p.Leu3528=)
c.10530G>C (p.Leu3510=)
c.10449G>C (p.Leu3483=)
c.10392G>C (p.Leu3464=)
c.8478G>C (p.Leu2826=)
c.7656G>C (p.Leu2552=)
n.10671G>C
n.214-546C>G
n.304-589C>G
n.213-546C>G
n.213-589C>G
c.10698G>C (p.Leu3566=)
c.10626G>C (p.Leu3542=)
c.10488G>C (p.Leu3496=)
c.8574G>C (p.Leu2858=)
 gnomAD v4
16g.2094132C>TCA7829516PKD1,PKD1-AS1c.10578G>A (p.Leu3526=)
c.10575G>A (p.Leu3525=)
n.15G>A
c.5140G>A (n.5140G>A)
c.7533G>A (p.Leu2511=)
c.10656G>A (p.Leu3552=)
c.10653G>A (p.Leu3551=)
c.10638G>A (p.Leu3546=)
c.10632G>A (p.Leu3544=)
c.10629G>A (p.Leu3543=)
c.10602G>A (p.Leu3534=)
c.10584G>A (p.Leu3528=)
c.10530G>A (p.Leu3510=)
c.10449G>A (p.Leu3483=)
c.10392G>A (p.Leu3464=)
c.8478G>A (p.Leu2826=)
c.7656G>A (p.Leu2552=)
n.10671G>A
n.214-546C>T
n.304-589C>T
n.213-546C>T
n.213-589C>T
c.10698G>A (p.Leu3566=)
c.10626G>A (p.Leu3542=)
c.10488G>A (p.Leu3496=)
c.8574G>A (p.Leu2858=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2094133A=CA2202026222PKD1,PKD1-AS1c.10577T= (p.Leu3526=)
c.10574T= (p.Leu3525=)
n.14T=
c.5139T= (n.5139T=)
c.7532T= (p.Leu2511=)
c.10655T= (p.Leu3552=)
c.10652T= (p.Leu3551=)
c.10637T= (p.Leu3546=)
c.10631T= (p.Leu3544=)
c.10628T= (p.Leu3543=)
c.10601T= (p.Leu3534=)
c.10583T= (p.Leu3528=)
c.10529T= (p.Leu3510=)
c.10448T= (p.Leu3483=)
c.10391T= (p.Leu3464=)
c.8477T= (p.Leu2826=)
c.7655T= (p.Leu2552=)
n.10670T=
n.214-545A=
n.304-588A=
n.213-545A=
n.213-588A=
c.10697T= (p.Leu3566=)
c.10625T= (p.Leu3542=)
c.10487T= (p.Leu3496=)
c.8573T= (p.Leu2858=)
16g.2094133A>CCA394341516PKD1,PKD1-AS1c.10577T>G (p.Leu3526Arg)
c.10574T>G (p.Leu3525Arg)
n.14T>G
c.5139T>G (n.5139T>G)
c.7532T>G (p.Leu2511Arg)
c.10655T>G (p.Leu3552Arg)
c.10652T>G (p.Leu3551Arg)
c.10637T>G (p.Leu3546Arg)
c.10631T>G (p.Leu3544Arg)
c.10628T>G (p.Leu3543Arg)
c.10601T>G (p.Leu3534Arg)
c.10583T>G (p.Leu3528Arg)
c.10529T>G (p.Leu3510Arg)
c.10448T>G (p.Leu3483Arg)
c.10391T>G (p.Leu3464Arg)
c.8477T>G (p.Leu2826Arg)
c.7655T>G (p.Leu2552Arg)
n.10670T>G
n.214-545A>C
n.304-588A>C
n.213-545A>C
n.213-588A>C
c.10697T>G (p.Leu3566Arg)
c.10625T>G (p.Leu3542Arg)
c.10487T>G (p.Leu3496Arg)
c.8573T>G (p.Leu2858Arg)
16g.2094133A>GCA394341518PKD1,PKD1-AS1c.10577T>C (p.Leu3526Pro)
c.10574T>C (p.Leu3525Pro)
n.14T>C
c.5139T>C (n.5139T>C)
c.7532T>C (p.Leu2511Pro)
c.10655T>C (p.Leu3552Pro)
c.10652T>C (p.Leu3551Pro)
c.10637T>C (p.Leu3546Pro)
c.10631T>C (p.Leu3544Pro)
c.10628T>C (p.Leu3543Pro)
c.10601T>C (p.Leu3534Pro)
c.10583T>C (p.Leu3528Pro)
c.10529T>C (p.Leu3510Pro)
c.10448T>C (p.Leu3483Pro)
c.10391T>C (p.Leu3464Pro)
c.8477T>C (p.Leu2826Pro)
c.7655T>C (p.Leu2552Pro)
n.10670T>C
n.214-545A>G
n.304-588A>G
n.213-545A>G
n.213-588A>G
c.10697T>C (p.Leu3566Pro)
c.10625T>C (p.Leu3542Pro)
c.10487T>C (p.Leu3496Pro)
c.8573T>C (p.Leu2858Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2094133A>TCA394341519PKD1,PKD1-AS1c.10577T>A (p.Leu3526Gln)
c.10574T>A (p.Leu3525Gln)
n.14T>A
c.5139T>A (n.5139T>A)
c.7532T>A (p.Leu2511Gln)
c.10655T>A (p.Leu3552Gln)
c.10652T>A (p.Leu3551Gln)
c.10637T>A (p.Leu3546Gln)
c.10631T>A (p.Leu3544Gln)
c.10628T>A (p.Leu3543Gln)
c.10601T>A (p.Leu3534Gln)
c.10583T>A (p.Leu3528Gln)
c.10529T>A (p.Leu3510Gln)
c.10448T>A (p.Leu3483Gln)
c.10391T>A (p.Leu3464Gln)
c.8477T>A (p.Leu2826Gln)
c.7655T>A (p.Leu2552Gln)
n.10670T>A
n.214-545A>T
n.304-588A>T
n.213-545A>T
n.213-588A>T
c.10697T>A (p.Leu3566Gln)
c.10625T>A (p.Leu3542Gln)
c.10487T>A (p.Leu3496Gln)
c.8573T>A (p.Leu2858Gln)
16g.2094134G>ACA493044982PKD1,PKD1-AS1c.10576C>T (p.Leu3526=)
c.10573C>T (p.Leu3525=)
n.13C>T
c.5138C>T (n.5138C>T)
c.7531C>T (p.Leu2511=)
c.10654C>T (p.Leu3552=)
c.10651C>T (p.Leu3551=)
c.10636C>T (p.Leu3546=)
c.10630C>T (p.Leu3544=)
c.10627C>T (p.Leu3543=)
c.10600C>T (p.Leu3534=)
c.10582C>T (p.Leu3528=)
c.10528C>T (p.Leu3510=)
c.10447C>T (p.Leu3483=)
c.10390C>T (p.Leu3464=)
c.8476C>T (p.Leu2826=)
c.7654C>T (p.Leu2552=)
n.10669C>T
n.214-544G>A
n.304-587G>A
n.213-544G>A
n.213-587G>A
c.10696C>T (p.Leu3566=)
c.10624C>T (p.Leu3542=)
c.10486C>T (p.Leu3496=)
c.8572C>T (p.Leu2858=)
16g.2094134G>CCA394341526PKD1,PKD1-AS1c.10576C>G (p.Leu3526Val)
c.10573C>G (p.Leu3525Val)
n.13C>G
c.5138C>G (n.5138C>G)
c.7531C>G (p.Leu2511Val)
c.10654C>G (p.Leu3552Val)
c.10651C>G (p.Leu3551Val)
c.10636C>G (p.Leu3546Val)
c.10630C>G (p.Leu3544Val)
c.10627C>G (p.Leu3543Val)
c.10600C>G (p.Leu3534Val)
c.10582C>G (p.Leu3528Val)
c.10528C>G (p.Leu3510Val)
c.10447C>G (p.Leu3483Val)
c.10390C>G (p.Leu3464Val)
c.8476C>G (p.Leu2826Val)
c.7654C>G (p.Leu2552Val)
n.10669C>G
n.214-544G>C
n.304-587G>C
n.213-544G>C
n.213-587G>C
c.10696C>G (p.Leu3566Val)
c.10624C>G (p.Leu3542Val)
c.10486C>G (p.Leu3496Val)
c.8572C>G (p.Leu2858Val)
16g.2094134G>TCA394341523PKD1,PKD1-AS1c.10576C>A (p.Leu3526Met)
c.10573C>A (p.Leu3525Met)
n.13C>A
c.5138C>A (n.5138C>A)
c.7531C>A (p.Leu2511Met)
c.10654C>A (p.Leu3552Met)
c.10651C>A (p.Leu3551Met)
c.10636C>A (p.Leu3546Met)
c.10630C>A (p.Leu3544Met)
c.10627C>A (p.Leu3543Met)
c.10600C>A (p.Leu3534Met)
c.10582C>A (p.Leu3528Met)
c.10528C>A (p.Leu3510Met)
c.10447C>A (p.Leu3483Met)
c.10390C>A (p.Leu3464Met)
c.8476C>A (p.Leu2826Met)
c.7654C>A (p.Leu2552Met)
n.10669C>A
n.214-544G>T
n.304-587G>T
n.213-544G>T
n.213-587G>T
c.10696C>A (p.Leu3566Met)
c.10624C>A (p.Leu3542Met)
c.10486C>A (p.Leu3496Met)
c.8572C>A (p.Leu2858Met)
 gnomAD v4
16g.2094135G>ACA493044985PKD1,PKD1-AS1c.10575C>T (p.Gly3525=)
c.10572C>T (p.Gly3524=)
n.12C>T
c.5137C>T (n.5137C>T)
c.7530C>T (p.Gly2510=)
c.10653C>T (p.Gly3551=)
c.10650C>T (p.Gly3550=)
c.10635C>T (p.Gly3545=)
c.10629C>T (p.Gly3543=)
c.10626C>T (p.Gly3542=)
c.10599C>T (p.Gly3533=)
c.10581C>T (p.Gly3527=)
c.10527C>T (p.Gly3509=)
c.10446C>T (p.Gly3482=)
c.10389C>T (p.Gly3463=)
c.8475C>T (p.Gly2825=)
c.7653C>T (p.Gly2551=)
n.10668C>T
n.214-543G>A
n.304-586G>A
n.213-543G>A
n.213-586G>A
c.10695C>T (p.Gly3565=)
c.10623C>T (p.Gly3541=)
c.10485C>T (p.Gly3495=)
c.8571C>T (p.Gly2857=)
16g.2094135G>CCA493044983PKD1,PKD1-AS1c.10575C>G (p.Gly3525=)
c.10572C>G (p.Gly3524=)
n.12C>G
c.5137C>G (n.5137C>G)
c.7530C>G (p.Gly2510=)
c.10653C>G (p.Gly3551=)
c.10650C>G (p.Gly3550=)
c.10635C>G (p.Gly3545=)
c.10629C>G (p.Gly3543=)
c.10626C>G (p.Gly3542=)
c.10599C>G (p.Gly3533=)
c.10581C>G (p.Gly3527=)
c.10527C>G (p.Gly3509=)
c.10446C>G (p.Gly3482=)
c.10389C>G (p.Gly3463=)
c.8475C>G (p.Gly2825=)
c.7653C>G (p.Gly2551=)
n.10668C>G
n.214-543G>C
n.304-586G>C
n.213-543G>C
n.213-586G>C
c.10695C>G (p.Gly3565=)
c.10623C>G (p.Gly3541=)
c.10485C>G (p.Gly3495=)
c.8571C>G (p.Gly2857=)
16g.2094135G>TCA493044984PKD1,PKD1-AS1c.10575C>A (p.Gly3525=)
c.10572C>A (p.Gly3524=)
n.12C>A
c.5137C>A (n.5137C>A)
c.7530C>A (p.Gly2510=)
c.10653C>A (p.Gly3551=)
c.10650C>A (p.Gly3550=)
c.10635C>A (p.Gly3545=)
c.10629C>A (p.Gly3543=)
c.10626C>A (p.Gly3542=)
c.10599C>A (p.Gly3533=)
c.10581C>A (p.Gly3527=)
c.10527C>A (p.Gly3509=)
c.10446C>A (p.Gly3482=)
c.10389C>A (p.Gly3463=)
c.8475C>A (p.Gly2825=)
c.7653C>A (p.Gly2551=)
n.10668C>A
n.214-543G>T
n.304-586G>T
n.213-543G>T
n.213-586G>T
c.10695C>A (p.Gly3565=)
c.10623C>A (p.Gly3541=)
c.10485C>A (p.Gly3495=)
c.8571C>A (p.Gly2857=)
 gnomAD v4
16g.2094136C>ACA7829518PKD1,PKD1-AS1c.10574G>T (p.Gly3525Val)
c.10571G>T (p.Gly3524Val)
n.11G>T
c.5136G>T (n.5136G>T)
c.7529G>T (p.Gly2510Val)
c.10652G>T (p.Gly3551Val)
c.10649G>T (p.Gly3550Val)
c.10634G>T (p.Gly3545Val)
c.10628G>T (p.Gly3543Val)
c.10625G>T (p.Gly3542Val)
c.10598G>T (p.Gly3533Val)
c.10580G>T (p.Gly3527Val)
c.10526G>T (p.Gly3509Val)
c.10445G>T (p.Gly3482Val)
c.10388G>T (p.Gly3463Val)
c.8474G>T (p.Gly2825Val)
c.7652G>T (p.Gly2551Val)
n.10667G>T
n.214-542C>A
n.304-585C>A
n.213-542C>A
n.213-585C>A
c.10694G>T (p.Gly3565Val)
c.10622G>T (p.Gly3541Val)
c.10484G>T (p.Gly3495Val)
c.8570G>T (p.Gly2857Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2094136C=CA2202026228PKD1,PKD1-AS1c.10574G= (p.Gly3525=)
c.10571G= (p.Gly3524=)
n.11G=
c.5136G= (n.5136G=)
c.7529G= (p.Gly2510=)
c.10652G= (p.Gly3551=)
c.10649G= (p.Gly3550=)
c.10634G= (p.Gly3545=)
c.10628G= (p.Gly3543=)
c.10625G= (p.Gly3542=)
c.10598G= (p.Gly3533=)
c.10580G= (p.Gly3527=)
c.10526G= (p.Gly3509=)
c.10445G= (p.Gly3482=)
c.10388G= (p.Gly3463=)
c.8474G= (p.Gly2825=)
c.7652G= (p.Gly2551=)
n.10667G=
n.214-542C=
n.304-585C=
n.213-542C=
n.213-585C=
c.10694G= (p.Gly3565=)
c.10622G= (p.Gly3541=)
c.10484G= (p.Gly3495=)
c.8570G= (p.Gly2857=)
16g.2094136C>GCA394341530PKD1,PKD1-AS1c.10574G>C (p.Gly3525Ala)
c.10571G>C (p.Gly3524Ala)
n.11G>C
c.5136G>C (n.5136G>C)
c.7529G>C (p.Gly2510Ala)
c.10652G>C (p.Gly3551Ala)
c.10649G>C (p.Gly3550Ala)
c.10634G>C (p.Gly3545Ala)
c.10628G>C (p.Gly3543Ala)
c.10625G>C (p.Gly3542Ala)
c.10598G>C (p.Gly3533Ala)
c.10580G>C (p.Gly3527Ala)
c.10526G>C (p.Gly3509Ala)
c.10445G>C (p.Gly3482Ala)
c.10388G>C (p.Gly3463Ala)
c.8474G>C (p.Gly2825Ala)
c.7652G>C (p.Gly2551Ala)
n.10667G>C
n.214-542C>G
n.304-585C>G
n.213-542C>G
n.213-585C>G
c.10694G>C (p.Gly3565Ala)
c.10622G>C (p.Gly3541Ala)
c.10484G>C (p.Gly3495Ala)
c.8570G>C (p.Gly2857Ala)
16g.2094136C>TCA7829519PKD1,PKD1-AS1c.10574G>A (p.Gly3525Asp)
c.10571G>A (p.Gly3524Asp)
n.11G>A
c.5136G>A (n.5136G>A)
c.7529G>A (p.Gly2510Asp)
c.10652G>A (p.Gly3551Asp)
c.10649G>A (p.Gly3550Asp)
c.10634G>A (p.Gly3545Asp)
c.10628G>A (p.Gly3543Asp)
c.10625G>A (p.Gly3542Asp)
c.10598G>A (p.Gly3533Asp)
c.10580G>A (p.Gly3527Asp)
c.10526G>A (p.Gly3509Asp)
c.10445G>A (p.Gly3482Asp)
c.10388G>A (p.Gly3463Asp)
c.8474G>A (p.Gly2825Asp)
c.7652G>A (p.Gly2551Asp)
n.10667G>A
n.214-542C>T
n.304-585C>T
n.213-542C>T
n.213-585C>T
c.10694G>A (p.Gly3565Asp)
c.10622G>A (p.Gly3541Asp)
c.10484G>A (p.Gly3495Asp)
c.8570G>A (p.Gly2857Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2094137C>ACA394341538PKD1,PKD1-AS1c.10573G>T (p.Gly3525Cys)
c.10570G>T (p.Gly3524Cys)
n.10G>T
c.5135G>T (n.5135G>T)
c.7528G>T (p.Gly2510Cys)
c.10651G>T (p.Gly3551Cys)
c.10648G>T (p.Gly3550Cys)
c.10633G>T (p.Gly3545Cys)
c.10627G>T (p.Gly3543Cys)
c.10624G>T (p.Gly3542Cys)
c.10597G>T (p.Gly3533Cys)
c.10579G>T (p.Gly3527Cys)
c.10525G>T (p.Gly3509Cys)
c.10444G>T (p.Gly3482Cys)
c.10387G>T (p.Gly3463Cys)
c.8473G>T (p.Gly2825Cys)
c.7651G>T (p.Gly2551Cys)
n.10666G>T
n.214-541C>A
n.304-584C>A
n.213-541C>A
n.213-584C>A
c.10693G>T (p.Gly3565Cys)
c.10621G>T (p.Gly3541Cys)
c.10483G>T (p.Gly3495Cys)
c.8569G>T (p.Gly2857Cys)
 gnomAD v4
16g.2094137C=CA2202026235PKD1,PKD1-AS1c.10573G= (p.Gly3525=)
c.10570G= (p.Gly3524=)
n.10G=
c.5135G= (n.5135G=)
c.7528G= (p.Gly2510=)
c.10651G= (p.Gly3551=)
c.10648G= (p.Gly3550=)
c.10633G= (p.Gly3545=)
c.10627G= (p.Gly3543=)
c.10624G= (p.Gly3542=)
c.10597G= (p.Gly3533=)
c.10579G= (p.Gly3527=)
c.10525G= (p.Gly3509=)
c.10444G= (p.Gly3482=)
c.10387G= (p.Gly3463=)
c.8473G= (p.Gly2825=)
c.7651G= (p.Gly2551=)
n.10666G=
n.214-541C=
n.304-584C=
n.213-541C=
n.213-584C=
c.10693G= (p.Gly3565=)
c.10621G= (p.Gly3541=)
c.10483G= (p.Gly3495=)
c.8569G= (p.Gly2857=)
16g.2094137C>GCA394341541PKD1,PKD1-AS1c.10573G>C (p.Gly3525Arg)
c.10570G>C (p.Gly3524Arg)
n.10G>C
c.5135G>C (n.5135G>C)
c.7528G>C (p.Gly2510Arg)
c.10651G>C (p.Gly3551Arg)
c.10648G>C (p.Gly3550Arg)
c.10633G>C (p.Gly3545Arg)
c.10627G>C (p.Gly3543Arg)
c.10624G>C (p.Gly3542Arg)
c.10597G>C (p.Gly3533Arg)
c.10579G>C (p.Gly3527Arg)
c.10525G>C (p.Gly3509Arg)
c.10444G>C (p.Gly3482Arg)
c.10387G>C (p.Gly3463Arg)
c.8473G>C (p.Gly2825Arg)
c.7651G>C (p.Gly2551Arg)
n.10666G>C
n.214-541C>G
n.304-584C>G
n.213-541C>G
n.213-584C>G
c.10693G>C (p.Gly3565Arg)
c.10621G>C (p.Gly3541Arg)
c.10483G>C (p.Gly3495Arg)
c.8569G>C (p.Gly2857Arg)
16g.2094137C>TCA394341544PKD1,PKD1-AS1c.10573G>A (p.Gly3525Ser)
c.10570G>A (p.Gly3524Ser)
n.10G>A
c.5135G>A (n.5135G>A)
c.7528G>A (p.Gly2510Ser)
c.10651G>A (p.Gly3551Ser)
c.10648G>A (p.Gly3550Ser)
c.10633G>A (p.Gly3545Ser)
c.10627G>A (p.Gly3543Ser)
c.10624G>A (p.Gly3542Ser)
c.10597G>A (p.Gly3533Ser)
c.10579G>A (p.Gly3527Ser)
c.10525G>A (p.Gly3509Ser)
c.10444G>A (p.Gly3482Ser)
c.10387G>A (p.Gly3463Ser)
c.8473G>A (p.Gly2825Ser)
c.7651G>A (p.Gly2551Ser)
n.10666G>A
n.214-541C>T
n.304-584C>T
n.213-541C>T
n.213-584C>T
c.10693G>A (p.Gly3565Ser)
c.10621G>A (p.Gly3541Ser)
c.10483G>A (p.Gly3495Ser)
c.8569G>A (p.Gly2857Ser)
 dbSNP gnomAD v2
16g.2094138T>ACA493044986PKD1,PKD1-AS1c.10572A>T (p.Pro3524=)
c.10569A>T (p.Pro3523=)
n.9A>T
c.5134A>T (n.5134A>T)
c.7527A>T (p.Pro2509=)
c.10650A>T (p.Pro3550=)
c.10647A>T (p.Pro3549=)
c.10632A>T (p.Pro3544=)
c.10626A>T (p.Pro3542=)
c.10623A>T (p.Pro3541=)
c.10596A>T (p.Pro3532=)
c.10578A>T (p.Pro3526=)
c.10524A>T (p.Pro3508=)
c.10443A>T (p.Pro3481=)
c.10386A>T (p.Pro3462=)
c.8472A>T (p.Pro2824=)
c.7650A>T (p.Pro2550=)
n.10665A>T
n.214-540T>A
n.304-583T>A
n.213-540T>A
n.213-583T>A
c.10692A>T (p.Pro3564=)
c.10620A>T (p.Pro3540=)
c.10482A>T (p.Pro3494=)
c.8568A>T (p.Pro2856=)
16g.2094138T>CCA493044987PKD1,PKD1-AS1c.10572A>G (p.Pro3524=)
c.10569A>G (p.Pro3523=)
n.9A>G
c.5134A>G (n.5134A>G)
c.7527A>G (p.Pro2509=)
c.10650A>G (p.Pro3550=)
c.10647A>G (p.Pro3549=)
c.10632A>G (p.Pro3544=)
c.10626A>G (p.Pro3542=)
c.10623A>G (p.Pro3541=)
c.10596A>G (p.Pro3532=)
c.10578A>G (p.Pro3526=)
c.10524A>G (p.Pro3508=)
c.10443A>G (p.Pro3481=)
c.10386A>G (p.Pro3462=)
c.8472A>G (p.Pro2824=)
c.7650A>G (p.Pro2550=)
n.10665A>G
n.214-540T>C
n.304-583T>C
n.213-540T>C
n.213-583T>C
c.10692A>G (p.Pro3564=)
c.10620A>G (p.Pro3540=)
c.10482A>G (p.Pro3494=)
c.8568A>G (p.Pro2856=)
 dbSNP gnomAD v4
16g.2094138T>GCA493044988PKD1,PKD1-AS1c.10572A>C (p.Pro3524=)
c.10569A>C (p.Pro3523=)
n.9A>C
c.5134A>C (n.5134A>C)
c.7527A>C (p.Pro2509=)
c.10650A>C (p.Pro3550=)
c.10647A>C (p.Pro3549=)
c.10632A>C (p.Pro3544=)
c.10626A>C (p.Pro3542=)
c.10623A>C (p.Pro3541=)
c.10596A>C (p.Pro3532=)
c.10578A>C (p.Pro3526=)
c.10524A>C (p.Pro3508=)
c.10443A>C (p.Pro3481=)
c.10386A>C (p.Pro3462=)
c.8472A>C (p.Pro2824=)
c.7650A>C (p.Pro2550=)
n.10665A>C
n.214-540T>G
n.304-583T>G
n.213-540T>G
n.213-583T>G
c.10692A>C (p.Pro3564=)
c.10620A>C (p.Pro3540=)
c.10482A>C (p.Pro3494=)
c.8568A>C (p.Pro2856=)
16g.2094138T=CA2202026239PKD1,PKD1-AS1c.10572A= (p.Pro3524=)
c.10569A= (p.Pro3523=)
n.9A=
c.5134A= (n.5134A=)
c.7527A= (p.Pro2509=)
c.10650A= (p.Pro3550=)
c.10647A= (p.Pro3549=)
c.10632A= (p.Pro3544=)
c.10626A= (p.Pro3542=)
c.10623A= (p.Pro3541=)
c.10596A= (p.Pro3532=)
c.10578A= (p.Pro3526=)
c.10524A= (p.Pro3508=)
c.10443A= (p.Pro3481=)
c.10386A= (p.Pro3462=)
c.8472A= (p.Pro2824=)
c.7650A= (p.Pro2550=)
n.10665A=
n.214-540T=
n.304-583T=
n.213-540T=
n.213-583T=
c.10692A= (p.Pro3564=)
c.10620A= (p.Pro3540=)
c.10482A= (p.Pro3494=)
c.8568A= (p.Pro2856=)
16g.2094139G>ACA394341555PKD1,PKD1-AS1c.10571C>T (p.Pro3524Leu)
c.10568C>T (p.Pro3523Leu)
n.8C>T
c.5133C>T (n.5133C>T)
c.7526C>T (p.Pro2509Leu)
c.10649C>T (p.Pro3550Leu)
c.10646C>T (p.Pro3549Leu)
c.10631C>T (p.Pro3544Leu)
c.10625C>T (p.Pro3542Leu)
c.10622C>T (p.Pro3541Leu)
c.10595C>T (p.Pro3532Leu)
c.10577C>T (p.Pro3526Leu)
c.10523C>T (p.Pro3508Leu)
c.10442C>T (p.Pro3481Leu)
c.10385C>T (p.Pro3462Leu)
c.8471C>T (p.Pro2824Leu)
c.7649C>T (p.Pro2550Leu)
n.10664C>T
n.214-539G>A
n.304-582G>A
n.213-539G>A
n.213-582G>A
c.10691C>T (p.Pro3564Leu)
c.10619C>T (p.Pro3540Leu)
c.10481C>T (p.Pro3494Leu)
c.8567C>T (p.Pro2856Leu)
 dbSNP gnomAD v4
16g.2094139G>CCA394341549PKD1,PKD1-AS1c.10571C>G (p.Pro3524Arg)
c.10568C>G (p.Pro3523Arg)
n.8C>G
c.5133C>G (n.5133C>G)
c.7526C>G (p.Pro2509Arg)
c.10649C>G (p.Pro3550Arg)
c.10646C>G (p.Pro3549Arg)
c.10631C>G (p.Pro3544Arg)
c.10625C>G (p.Pro3542Arg)
c.10622C>G (p.Pro3541Arg)
c.10595C>G (p.Pro3532Arg)
c.10577C>G (p.Pro3526Arg)
c.10523C>G (p.Pro3508Arg)
c.10442C>G (p.Pro3481Arg)
c.10385C>G (p.Pro3462Arg)
c.8471C>G (p.Pro2824Arg)
c.7649C>G (p.Pro2550Arg)
n.10664C>G
n.214-539G>C
n.304-582G>C
n.213-539G>C
n.213-582G>C
c.10691C>G (p.Pro3564Arg)
c.10619C>G (p.Pro3540Arg)
c.10481C>G (p.Pro3494Arg)
c.8567C>G (p.Pro2856Arg)

Number of alleles fetched