Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2111524G>ACA394382697PKD1c.3643C>T (p.Leu1215Phe)
n.310+816C>T
n.430+816C>T
n.593C>T
c.233+292C>T
n.790+816C>T
c.473-3166C>T
n.773+816C>T
c.2226+816C>T (n.2226+816C>T)
n.421+816C>T
c.598C>T (p.Leu200Phe)
c.3721C>T (p.Leu1241Phe)
c.3697C>T (p.Leu1233Phe)
c.3667C>T (p.Leu1223Phe)
c.3649C>T (p.Leu1217Phe)
c.3595C>T (p.Leu1199Phe)
c.3514C>T (p.Leu1172Phe)
c.3457C>T (p.Leu1153Phe)
c.1543C>T (p.Leu515Phe)
c.721C>T (p.Leu241Phe)
n.3736C>T
c.3763C>T (p.Leu1255Phe)
c.3691C>T (p.Leu1231Phe)
c.3553C>T (p.Leu1185Phe)
c.1639C>T (p.Leu547Phe)
16g.2111524G>CCA7832689PKD1c.3643C>G (p.Leu1215Val)
n.310+816C>G
n.430+816C>G
n.593C>G
c.233+292C>G
n.790+816C>G
c.473-3166C>G
n.773+816C>G
c.2226+816C>G (n.2226+816C>G)
n.421+816C>G
c.598C>G (p.Leu200Val)
c.3721C>G (p.Leu1241Val)
c.3697C>G (p.Leu1233Val)
c.3667C>G (p.Leu1223Val)
c.3649C>G (p.Leu1217Val)
c.3595C>G (p.Leu1199Val)
c.3514C>G (p.Leu1172Val)
c.3457C>G (p.Leu1153Val)
c.1543C>G (p.Leu515Val)
c.721C>G (p.Leu241Val)
n.3736C>G
c.3763C>G (p.Leu1255Val)
c.3691C>G (p.Leu1231Val)
c.3553C>G (p.Leu1185Val)
c.1639C>G (p.Leu547Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111524G=CA2202047650PKD1c.3643C= (p.Leu1215=)
n.310+816C=
n.430+816C=
n.593C=
c.233+292C=
n.790+816C=
c.473-3166C=
n.773+816C=
c.2226+816C= (n.2226+816C=)
n.421+816C=
c.598C= (p.Leu200=)
c.3721C= (p.Leu1241=)
c.3697C= (p.Leu1233=)
c.3667C= (p.Leu1223=)
c.3649C= (p.Leu1217=)
c.3595C= (p.Leu1199=)
c.3514C= (p.Leu1172=)
c.3457C= (p.Leu1153=)
c.1543C= (p.Leu515=)
c.721C= (p.Leu241=)
n.3736C=
c.3763C= (p.Leu1255=)
c.3691C= (p.Leu1231=)
c.3553C= (p.Leu1185=)
c.1639C= (p.Leu547=)
16g.2111524G>TCA394382698PKD1c.3643C>A (p.Leu1215Ile)
n.310+816C>A
n.430+816C>A
n.593C>A
c.233+292C>A
n.790+816C>A
c.473-3166C>A
n.773+816C>A
c.2226+816C>A (n.2226+816C>A)
n.421+816C>A
c.598C>A (p.Leu200Ile)
c.3721C>A (p.Leu1241Ile)
c.3697C>A (p.Leu1233Ile)
c.3667C>A (p.Leu1223Ile)
c.3649C>A (p.Leu1217Ile)
c.3595C>A (p.Leu1199Ile)
c.3514C>A (p.Leu1172Ile)
c.3457C>A (p.Leu1153Ile)
c.1543C>A (p.Leu515Ile)
c.721C>A (p.Leu241Ile)
n.3736C>A
c.3763C>A (p.Leu1255Ile)
c.3691C>A (p.Leu1231Ile)
c.3553C>A (p.Leu1185Ile)
c.1639C>A (p.Leu547Ile)
16g.2111524_2111525delCA2695222474PKD1c.3642_3643del (p.Leu1215GlnfsTer?)
n.310+815_310+816del
n.430+815_430+816del
n.592_593del
c.233+291_233+292del
n.790+815_790+816del
c.473-3167_473-3166del
n.773+815_773+816del
c.2226+815_2226+816del (n.2226+815_2226+816del)
n.421+815_421+816del
c.597_598del (p.Leu200GlnfsTer?)
c.3720_3721del (p.Leu1241GlnfsTer?)
c.3696_3697del (p.Leu1233GlnfsTer?)
c.3666_3667del (p.Leu1223GlnfsTer?)
c.3648_3649del (p.Leu1217GlnfsTer?)
c.3594_3595del (p.Leu1199GlnfsTer?)
c.3513_3514del (p.Leu1172GlnfsTer?)
c.3456_3457del (p.Leu1153GlnfsTer?)
c.1542_1543del (p.Leu515GlnfsTer?)
c.720_721del (p.Leu241GlnfsTer?)
n.3735_3736del
c.3762_3763del (p.Leu1255GlnfsTer?)
c.3690_3691del (p.Leu1231GlnfsTer?)
c.3552_3553del (p.Leu1185GlnfsTer?)
c.1638_1639del (p.Leu547GlnfsTer?)
16g.2111525T>ACA493049124PKD1c.3642A>T (p.Gly1214=)
n.310+815A>T
n.430+815A>T
n.592A>T
c.233+291A>T
n.790+815A>T
c.473-3167A>T
n.773+815A>T
c.2226+815A>T (n.2226+815A>T)
n.421+815A>T
c.597A>T (p.Gly199=)
c.3720A>T (p.Gly1240=)
c.3696A>T (p.Gly1232=)
c.3666A>T (p.Gly1222=)
c.3648A>T (p.Gly1216=)
c.3594A>T (p.Gly1198=)
c.3513A>T (p.Gly1171=)
c.3456A>T (p.Gly1152=)
c.1542A>T (p.Gly514=)
c.720A>T (p.Gly240=)
n.3735A>T
c.3762A>T (p.Gly1254=)
c.3690A>T (p.Gly1230=)
c.3552A>T (p.Gly1184=)
c.1638A>T (p.Gly546=)
 gnomAD v4
16g.2111525T>CCA7832690PKD1c.3642A>G (p.Gly1214=)
n.310+815A>G
n.430+815A>G
n.592A>G
c.233+291A>G
n.790+815A>G
c.473-3167A>G
n.773+815A>G
c.2226+815A>G (n.2226+815A>G)
n.421+815A>G
c.597A>G (p.Gly199=)
c.3720A>G (p.Gly1240=)
c.3696A>G (p.Gly1232=)
c.3666A>G (p.Gly1222=)
c.3648A>G (p.Gly1216=)
c.3594A>G (p.Gly1198=)
c.3513A>G (p.Gly1171=)
c.3456A>G (p.Gly1152=)
c.1542A>G (p.Gly514=)
c.720A>G (p.Gly240=)
n.3735A>G
c.3762A>G (p.Gly1254=)
c.3690A>G (p.Gly1230=)
c.3552A>G (p.Gly1184=)
c.1638A>G (p.Gly546=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111525T>GCA493049125PKD1c.3642A>C (p.Gly1214=)
n.310+815A>C
n.430+815A>C
n.592A>C
c.233+291A>C
n.790+815A>C
c.473-3167A>C
n.773+815A>C
c.2226+815A>C (n.2226+815A>C)
n.421+815A>C
c.597A>C (p.Gly199=)
c.3720A>C (p.Gly1240=)
c.3696A>C (p.Gly1232=)
c.3666A>C (p.Gly1222=)
c.3648A>C (p.Gly1216=)
c.3594A>C (p.Gly1198=)
c.3513A>C (p.Gly1171=)
c.3456A>C (p.Gly1152=)
c.1542A>C (p.Gly514=)
c.720A>C (p.Gly240=)
n.3735A>C
c.3762A>C (p.Gly1254=)
c.3690A>C (p.Gly1230=)
c.3552A>C (p.Gly1184=)
c.1638A>C (p.Gly546=)
 dbSNP gnomAD v3 gnomAD v4
16g.2111525T=CA2202047651PKD1c.3642A= (p.Gly1214=)
n.310+815A=
n.430+815A=
n.592A=
c.233+291A=
n.790+815A=
c.473-3167A=
n.773+815A=
c.2226+815A= (n.2226+815A=)
n.421+815A=
c.597A= (p.Gly199=)
c.3720A= (p.Gly1240=)
c.3696A= (p.Gly1232=)
c.3666A= (p.Gly1222=)
c.3648A= (p.Gly1216=)
c.3594A= (p.Gly1198=)
c.3513A= (p.Gly1171=)
c.3456A= (p.Gly1152=)
c.1542A= (p.Gly514=)
c.720A= (p.Gly240=)
n.3735A=
c.3762A= (p.Gly1254=)
c.3690A= (p.Gly1230=)
c.3552A= (p.Gly1184=)
c.1638A= (p.Gly546=)
16g.2111526C>ACA394382699PKD1c.3641G>T (p.Gly1214Val)
n.310+814G>T
n.430+814G>T
n.591G>T
c.233+290G>T
n.790+814G>T
c.473-3168G>T
n.773+814G>T
c.2226+814G>T (n.2226+814G>T)
n.421+814G>T
c.596G>T (p.Gly199Val)
c.3719G>T (p.Gly1240Val)
c.3695G>T (p.Gly1232Val)
c.3665G>T (p.Gly1222Val)
c.3647G>T (p.Gly1216Val)
c.3593G>T (p.Gly1198Val)
c.3512G>T (p.Gly1171Val)
c.3455G>T (p.Gly1152Val)
c.1541G>T (p.Gly514Val)
c.719G>T (p.Gly240Val)
n.3734G>T
c.3761G>T (p.Gly1254Val)
c.3689G>T (p.Gly1230Val)
c.3551G>T (p.Gly1184Val)
c.1637G>T (p.Gly546Val)
 gnomAD v4
16g.2111526C>GCA394382700PKD1c.3641G>C (p.Gly1214Ala)
n.310+814G>C
n.430+814G>C
n.591G>C
c.233+290G>C
n.790+814G>C
c.473-3168G>C
n.773+814G>C
c.2226+814G>C (n.2226+814G>C)
n.421+814G>C
c.596G>C (p.Gly199Ala)
c.3719G>C (p.Gly1240Ala)
c.3695G>C (p.Gly1232Ala)
c.3665G>C (p.Gly1222Ala)
c.3647G>C (p.Gly1216Ala)
c.3593G>C (p.Gly1198Ala)
c.3512G>C (p.Gly1171Ala)
c.3455G>C (p.Gly1152Ala)
c.1541G>C (p.Gly514Ala)
c.719G>C (p.Gly240Ala)
n.3734G>C
c.3761G>C (p.Gly1254Ala)
c.3689G>C (p.Gly1230Ala)
c.3551G>C (p.Gly1184Ala)
c.1637G>C (p.Gly546Ala)
16g.2111526C>TCA394382701PKD1c.3641G>A (p.Gly1214Glu)
n.310+814G>A
n.430+814G>A
n.591G>A
c.233+290G>A
n.790+814G>A
c.473-3168G>A
n.773+814G>A
c.2226+814G>A (n.2226+814G>A)
n.421+814G>A
c.596G>A (p.Gly199Glu)
c.3719G>A (p.Gly1240Glu)
c.3695G>A (p.Gly1232Glu)
c.3665G>A (p.Gly1222Glu)
c.3647G>A (p.Gly1216Glu)
c.3593G>A (p.Gly1198Glu)
c.3512G>A (p.Gly1171Glu)
c.3455G>A (p.Gly1152Glu)
c.1541G>A (p.Gly514Glu)
c.719G>A (p.Gly240Glu)
n.3734G>A
c.3761G>A (p.Gly1254Glu)
c.3689G>A (p.Gly1230Glu)
c.3551G>A (p.Gly1184Glu)
c.1637G>A (p.Gly546Glu)
16g.2111527C>ACA394382702PKD1c.3640G>T (p.Gly1214Ter)
n.310+813G>T
n.430+813G>T
n.590G>T
c.233+289G>T
n.790+813G>T
c.473-3169G>T
n.773+813G>T
c.2226+813G>T (n.2226+813G>T)
n.421+813G>T
c.595G>T (p.Gly199Ter)
c.3718G>T (p.Gly1240Ter)
c.3694G>T (p.Gly1232Ter)
c.3664G>T (p.Gly1222Ter)
c.3646G>T (p.Gly1216Ter)
c.3592G>T (p.Gly1198Ter)
c.3511G>T (p.Gly1171Ter)
c.3454G>T (p.Gly1152Ter)
c.1540G>T (p.Gly514Ter)
c.718G>T (p.Gly240Ter)
n.3733G>T
c.3760G>T (p.Gly1254Ter)
c.3688G>T (p.Gly1230Ter)
c.3550G>T (p.Gly1184Ter)
c.1636G>T (p.Gly546Ter)
16g.2111527C=CA2202047652PKD1c.3640G= (p.Gly1214=)
n.310+813G=
n.430+813G=
n.590G=
c.233+289G=
n.790+813G=
c.473-3169G=
n.773+813G=
c.2226+813G= (n.2226+813G=)
n.421+813G=
c.595G= (p.Gly199=)
c.3718G= (p.Gly1240=)
c.3694G= (p.Gly1232=)
c.3664G= (p.Gly1222=)
c.3646G= (p.Gly1216=)
c.3592G= (p.Gly1198=)
c.3511G= (p.Gly1171=)
c.3454G= (p.Gly1152=)
c.1540G= (p.Gly514=)
c.718G= (p.Gly240=)
n.3733G=
c.3760G= (p.Gly1254=)
c.3688G= (p.Gly1230=)
c.3550G= (p.Gly1184=)
c.1636G= (p.Gly546=)
16g.2111527C>GCA394382703PKD1c.3640G>C (p.Gly1214Arg)
n.310+813G>C
n.430+813G>C
n.590G>C
c.233+289G>C
n.790+813G>C
c.473-3169G>C
n.773+813G>C
c.2226+813G>C (n.2226+813G>C)
n.421+813G>C
c.595G>C (p.Gly199Arg)
c.3718G>C (p.Gly1240Arg)
c.3694G>C (p.Gly1232Arg)
c.3664G>C (p.Gly1222Arg)
c.3646G>C (p.Gly1216Arg)
c.3592G>C (p.Gly1198Arg)
c.3511G>C (p.Gly1171Arg)
c.3454G>C (p.Gly1152Arg)
c.1540G>C (p.Gly514Arg)
c.718G>C (p.Gly240Arg)
n.3733G>C
c.3760G>C (p.Gly1254Arg)
c.3688G>C (p.Gly1230Arg)
c.3550G>C (p.Gly1184Arg)
c.1636G>C (p.Gly546Arg)
 gnomAD v4
16g.2111527C>TCA7832691PKD1c.3640G>A (p.Gly1214Arg)
n.310+813G>A
n.430+813G>A
n.590G>A
c.233+289G>A
n.790+813G>A
c.473-3169G>A
n.773+813G>A
c.2226+813G>A (n.2226+813G>A)
n.421+813G>A
c.595G>A (p.Gly199Arg)
c.3718G>A (p.Gly1240Arg)
c.3694G>A (p.Gly1232Arg)
c.3664G>A (p.Gly1222Arg)
c.3646G>A (p.Gly1216Arg)
c.3592G>A (p.Gly1198Arg)
c.3511G>A (p.Gly1171Arg)
c.3454G>A (p.Gly1152Arg)
c.1540G>A (p.Gly514Arg)
c.718G>A (p.Gly240Arg)
n.3733G>A
c.3760G>A (p.Gly1254Arg)
c.3688G>A (p.Gly1230Arg)
c.3550G>A (p.Gly1184Arg)
c.1636G>A (p.Gly546Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2111528G>ACA493049134PKD1c.3639C>T (p.Arg1213=)
n.310+812C>T
n.430+812C>T
n.589C>T
c.233+288C>T
n.790+812C>T
c.473-3170C>T
n.773+812C>T
c.2226+812C>T (n.2226+812C>T)
n.421+812C>T
c.594C>T (p.Arg198=)
c.3717C>T (p.Arg1239=)
c.3693C>T (p.Arg1231=)
c.3663C>T (p.Arg1221=)
c.3645C>T (p.Arg1215=)
c.3591C>T (p.Arg1197=)
c.3510C>T (p.Arg1170=)
c.3453C>T (p.Arg1151=)
c.1539C>T (p.Arg513=)
c.717C>T (p.Arg239=)
n.3732C>T
c.3759C>T (p.Arg1253=)
c.3687C>T (p.Arg1229=)
c.3549C>T (p.Arg1183=)
c.1635C>T (p.Arg545=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2111528G>CCA493049135PKD1c.3639C>G (p.Arg1213=)
n.310+812C>G
n.430+812C>G
n.589C>G
c.233+288C>G
n.790+812C>G
c.473-3170C>G
n.773+812C>G
c.2226+812C>G (n.2226+812C>G)
n.421+812C>G
c.594C>G (p.Arg198=)
c.3717C>G (p.Arg1239=)
c.3693C>G (p.Arg1231=)
c.3663C>G (p.Arg1221=)
c.3645C>G (p.Arg1215=)
c.3591C>G (p.Arg1197=)
c.3510C>G (p.Arg1170=)
c.3453C>G (p.Arg1151=)
c.1539C>G (p.Arg513=)
c.717C>G (p.Arg239=)
n.3732C>G
c.3759C>G (p.Arg1253=)
c.3687C>G (p.Arg1229=)
c.3549C>G (p.Arg1183=)
c.1635C>G (p.Arg545=)
16g.2111528G=CA2202047653PKD1c.3639C= (p.Arg1213=)
n.310+812C=
n.430+812C=
n.589C=
c.233+288C=
n.790+812C=
c.473-3170C=
n.773+812C=
c.2226+812C= (n.2226+812C=)
n.421+812C=
c.594C= (p.Arg198=)
c.3717C= (p.Arg1239=)
c.3693C= (p.Arg1231=)
c.3663C= (p.Arg1221=)
c.3645C= (p.Arg1215=)
c.3591C= (p.Arg1197=)
c.3510C= (p.Arg1170=)
c.3453C= (p.Arg1151=)
c.1539C= (p.Arg513=)
c.717C= (p.Arg239=)
n.3732C=
c.3759C= (p.Arg1253=)
c.3687C= (p.Arg1229=)
c.3549C= (p.Arg1183=)
c.1635C= (p.Arg545=)
16g.2111528G>TCA493049136PKD1c.3639C>A (p.Arg1213=)
n.310+812C>A
n.430+812C>A
n.589C>A
c.233+288C>A
n.790+812C>A
c.473-3170C>A
n.773+812C>A
c.2226+812C>A (n.2226+812C>A)
n.421+812C>A
c.594C>A (p.Arg198=)
c.3717C>A (p.Arg1239=)
c.3693C>A (p.Arg1231=)
c.3663C>A (p.Arg1221=)
c.3645C>A (p.Arg1215=)
c.3591C>A (p.Arg1197=)
c.3510C>A (p.Arg1170=)
c.3453C>A (p.Arg1151=)
c.1539C>A (p.Arg513=)
c.717C>A (p.Arg239=)
n.3732C>A
c.3759C>A (p.Arg1253=)
c.3687C>A (p.Arg1229=)
c.3549C>A (p.Arg1183=)
c.1635C>A (p.Arg545=)
16g.2111529C>ACA394382704PKD1c.3638G>T (p.Arg1213Leu)
n.310+811G>T
n.430+811G>T
n.588G>T
c.233+287G>T
n.790+811G>T
c.473-3171G>T
n.773+811G>T
c.2226+811G>T (n.2226+811G>T)
n.421+811G>T
c.593G>T (p.Arg198Leu)
c.3716G>T (p.Arg1239Leu)
c.3692G>T (p.Arg1231Leu)
c.3662G>T (p.Arg1221Leu)
c.3644G>T (p.Arg1215Leu)
c.3590G>T (p.Arg1197Leu)
c.3509G>T (p.Arg1170Leu)
c.3452G>T (p.Arg1151Leu)
c.1538G>T (p.Arg513Leu)
c.716G>T (p.Arg239Leu)
n.3731G>T
c.3758G>T (p.Arg1253Leu)
c.3686G>T (p.Arg1229Leu)
c.3548G>T (p.Arg1183Leu)
c.1634G>T (p.Arg545Leu)
16g.2111529C=CA2202047654PKD1c.3638G= (p.Arg1213=)
n.310+811G=
n.430+811G=
n.588G=
c.233+287G=
n.790+811G=
c.473-3171G=
n.773+811G=
c.2226+811G= (n.2226+811G=)
n.421+811G=
c.593G= (p.Arg198=)
c.3716G= (p.Arg1239=)
c.3692G= (p.Arg1231=)
c.3662G= (p.Arg1221=)
c.3644G= (p.Arg1215=)
c.3590G= (p.Arg1197=)
c.3509G= (p.Arg1170=)
c.3452G= (p.Arg1151=)
c.1538G= (p.Arg513=)
c.716G= (p.Arg239=)
n.3731G=
c.3758G= (p.Arg1253=)
c.3686G= (p.Arg1229=)
c.3548G= (p.Arg1183=)
c.1634G= (p.Arg545=)
16g.2111529C>GCA394382705PKD1c.3638G>C (p.Arg1213Pro)
n.310+811G>C
n.430+811G>C
n.588G>C
c.233+287G>C
n.790+811G>C
c.473-3171G>C
n.773+811G>C
c.2226+811G>C (n.2226+811G>C)
n.421+811G>C
c.593G>C (p.Arg198Pro)
c.3716G>C (p.Arg1239Pro)
c.3692G>C (p.Arg1231Pro)
c.3662G>C (p.Arg1221Pro)
c.3644G>C (p.Arg1215Pro)
c.3590G>C (p.Arg1197Pro)
c.3509G>C (p.Arg1170Pro)
c.3452G>C (p.Arg1151Pro)
c.1538G>C (p.Arg513Pro)
c.716G>C (p.Arg239Pro)
n.3731G>C
c.3758G>C (p.Arg1253Pro)
c.3686G>C (p.Arg1229Pro)
c.3548G>C (p.Arg1183Pro)
c.1634G>C (p.Arg545Pro)
16g.2111529C>TCA7832692PKD1c.3638G>A (p.Arg1213His)
n.310+811G>A
n.430+811G>A
n.588G>A
c.233+287G>A
n.790+811G>A
c.473-3171G>A
n.773+811G>A
c.2226+811G>A (n.2226+811G>A)
n.421+811G>A
c.593G>A (p.Arg198His)
c.3716G>A (p.Arg1239His)
c.3692G>A (p.Arg1231His)
c.3662G>A (p.Arg1221His)
c.3644G>A (p.Arg1215His)
c.3590G>A (p.Arg1197His)
c.3509G>A (p.Arg1170His)
c.3452G>A (p.Arg1151His)
c.1538G>A (p.Arg513His)
c.716G>A (p.Arg239His)
n.3731G>A
c.3758G>A (p.Arg1253His)
c.3686G>A (p.Arg1229His)
c.3548G>A (p.Arg1183His)
c.1634G>A (p.Arg545His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2111530G>ACA7832693PKD1c.3637C>T (p.Arg1213Cys)
n.310+810C>T
n.430+810C>T
n.587C>T
c.233+286C>T
n.790+810C>T
c.473-3172C>T
n.773+810C>T
c.2226+810C>T (n.2226+810C>T)
n.421+810C>T
c.592C>T (p.Arg198Cys)
c.3715C>T (p.Arg1239Cys)
c.3691C>T (p.Arg1231Cys)
c.3661C>T (p.Arg1221Cys)
c.3643C>T (p.Arg1215Cys)
c.3589C>T (p.Arg1197Cys)
c.3508C>T (p.Arg1170Cys)
c.3451C>T (p.Arg1151Cys)
c.1537C>T (p.Arg513Cys)
c.715C>T (p.Arg239Cys)
n.3730C>T
c.3757C>T (p.Arg1253Cys)
c.3685C>T (p.Arg1229Cys)
c.3547C>T (p.Arg1183Cys)
c.1633C>T (p.Arg545Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111530G>CCA394382707PKD1c.3637C>G (p.Arg1213Gly)
n.310+810C>G
n.430+810C>G
n.587C>G
c.233+286C>G
n.790+810C>G
c.473-3172C>G
n.773+810C>G
c.2226+810C>G (n.2226+810C>G)
n.421+810C>G
c.592C>G (p.Arg198Gly)
c.3715C>G (p.Arg1239Gly)
c.3691C>G (p.Arg1231Gly)
c.3661C>G (p.Arg1221Gly)
c.3643C>G (p.Arg1215Gly)
c.3589C>G (p.Arg1197Gly)
c.3508C>G (p.Arg1170Gly)
c.3451C>G (p.Arg1151Gly)
c.1537C>G (p.Arg513Gly)
c.715C>G (p.Arg239Gly)
n.3730C>G
c.3757C>G (p.Arg1253Gly)
c.3685C>G (p.Arg1229Gly)
c.3547C>G (p.Arg1183Gly)
c.1633C>G (p.Arg545Gly)
 dbSNP
16g.2111530G=CA2202047655PKD1c.3637C= (p.Arg1213=)
n.310+810C=
n.430+810C=
n.587C=
c.233+286C=
n.790+810C=
c.473-3172C=
n.773+810C=
c.2226+810C= (n.2226+810C=)
n.421+810C=
c.592C= (p.Arg198=)
c.3715C= (p.Arg1239=)
c.3691C= (p.Arg1231=)
c.3661C= (p.Arg1221=)
c.3643C= (p.Arg1215=)
c.3589C= (p.Arg1197=)
c.3508C= (p.Arg1170=)
c.3451C= (p.Arg1151=)
c.1537C= (p.Arg513=)
c.715C= (p.Arg239=)
n.3730C=
c.3757C= (p.Arg1253=)
c.3685C= (p.Arg1229=)
c.3547C= (p.Arg1183=)
c.1633C= (p.Arg545=)
16g.2111530G>TCA394382706PKD1c.3637C>A (p.Arg1213Ser)
n.310+810C>A
n.430+810C>A
n.587C>A
c.233+286C>A
n.790+810C>A
c.473-3172C>A
n.773+810C>A
c.2226+810C>A (n.2226+810C>A)
n.421+810C>A
c.592C>A (p.Arg198Ser)
c.3715C>A (p.Arg1239Ser)
c.3691C>A (p.Arg1231Ser)
c.3661C>A (p.Arg1221Ser)
c.3643C>A (p.Arg1215Ser)
c.3589C>A (p.Arg1197Ser)
c.3508C>A (p.Arg1170Ser)
c.3451C>A (p.Arg1151Ser)
c.1537C>A (p.Arg513Ser)
c.715C>A (p.Arg239Ser)
n.3730C>A
c.3757C>A (p.Arg1253Ser)
c.3685C>A (p.Arg1229Ser)
c.3547C>A (p.Arg1183Ser)
c.1633C>A (p.Arg545Ser)
16g.2111531G>ACA7832695PKD1c.3636C>T (p.Leu1212=)
n.310+809C>T
n.430+809C>T
n.586C>T
c.233+285C>T
n.790+809C>T
c.473-3173C>T
n.773+809C>T
c.2226+809C>T (n.2226+809C>T)
n.421+809C>T
c.591C>T (p.Leu197=)
c.3714C>T (p.Leu1238=)
c.3690C>T (p.Leu1230=)
c.3660C>T (p.Leu1220=)
c.3642C>T (p.Leu1214=)
c.3588C>T (p.Leu1196=)
c.3507C>T (p.Leu1169=)
c.3450C>T (p.Leu1150=)
c.1536C>T (p.Leu512=)
c.714C>T (p.Leu238=)
n.3729C>T
c.3756C>T (p.Leu1252=)
c.3684C>T (p.Leu1228=)
c.3546C>T (p.Leu1182=)
c.1632C>T (p.Leu544=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2111531G>CCA7832694PKD1c.3636C>G (p.Leu1212=)
n.310+809C>G
n.430+809C>G
n.586C>G
c.233+285C>G
n.790+809C>G
c.473-3173C>G
n.773+809C>G
c.2226+809C>G (n.2226+809C>G)
n.421+809C>G
c.591C>G (p.Leu197=)
c.3714C>G (p.Leu1238=)
c.3690C>G (p.Leu1230=)
c.3660C>G (p.Leu1220=)
c.3642C>G (p.Leu1214=)
c.3588C>G (p.Leu1196=)
c.3507C>G (p.Leu1169=)
c.3450C>G (p.Leu1150=)
c.1536C>G (p.Leu512=)
c.714C>G (p.Leu238=)
n.3729C>G
c.3756C>G (p.Leu1252=)
c.3684C>G (p.Leu1228=)
c.3546C>G (p.Leu1182=)
c.1632C>G (p.Leu544=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2111531G=CA2202047656PKD1c.3636C= (p.Leu1212=)
n.310+809C=
n.430+809C=
n.586C=
c.233+285C=
n.790+809C=
c.473-3173C=
n.773+809C=
c.2226+809C= (n.2226+809C=)
n.421+809C=
c.591C= (p.Leu197=)
c.3714C= (p.Leu1238=)
c.3690C= (p.Leu1230=)
c.3660C= (p.Leu1220=)
c.3642C= (p.Leu1214=)
c.3588C= (p.Leu1196=)
c.3507C= (p.Leu1169=)
c.3450C= (p.Leu1150=)
c.1536C= (p.Leu512=)
c.714C= (p.Leu238=)
n.3729C=
c.3756C= (p.Leu1252=)
c.3684C= (p.Leu1228=)
c.3546C= (p.Leu1182=)
c.1632C= (p.Leu544=)
16g.2111531G>TCA493049144PKD1c.3636C>A (p.Leu1212=)
n.310+809C>A
n.430+809C>A
n.586C>A
c.233+285C>A
n.790+809C>A
c.473-3173C>A
n.773+809C>A
c.2226+809C>A (n.2226+809C>A)
n.421+809C>A
c.591C>A (p.Leu197=)
c.3714C>A (p.Leu1238=)
c.3690C>A (p.Leu1230=)
c.3660C>A (p.Leu1220=)
c.3642C>A (p.Leu1214=)
c.3588C>A (p.Leu1196=)
c.3507C>A (p.Leu1169=)
c.3450C>A (p.Leu1150=)
c.1536C>A (p.Leu512=)
c.714C>A (p.Leu238=)
n.3729C>A
c.3756C>A (p.Leu1252=)
c.3684C>A (p.Leu1228=)
c.3546C>A (p.Leu1182=)
c.1632C>A (p.Leu544=)
16g.2111532A>CCA394382708PKD1c.3635T>G (p.Leu1212Arg)
n.310+808T>G
n.430+808T>G
n.585T>G
c.233+284T>G
n.790+808T>G
c.473-3174T>G
n.773+808T>G
c.2226+808T>G (n.2226+808T>G)
n.421+808T>G
c.590T>G (p.Leu197Arg)
c.3713T>G (p.Leu1238Arg)
c.3689T>G (p.Leu1230Arg)
c.3659T>G (p.Leu1220Arg)
c.3641T>G (p.Leu1214Arg)
c.3587T>G (p.Leu1196Arg)
c.3506T>G (p.Leu1169Arg)
c.3449T>G (p.Leu1150Arg)
c.1535T>G (p.Leu512Arg)
c.713T>G (p.Leu238Arg)
n.3728T>G
c.3755T>G (p.Leu1252Arg)
c.3683T>G (p.Leu1228Arg)
c.3545T>G (p.Leu1182Arg)
c.1631T>G (p.Leu544Arg)
16g.2111532A>GCA394382709PKD1c.3635T>C (p.Leu1212Pro)
n.310+808T>C
n.430+808T>C
n.585T>C
c.233+284T>C
n.790+808T>C
c.473-3174T>C
n.773+808T>C
c.2226+808T>C (n.2226+808T>C)
n.421+808T>C
c.590T>C (p.Leu197Pro)
c.3713T>C (p.Leu1238Pro)
c.3689T>C (p.Leu1230Pro)
c.3659T>C (p.Leu1220Pro)
c.3641T>C (p.Leu1214Pro)
c.3587T>C (p.Leu1196Pro)
c.3506T>C (p.Leu1169Pro)
c.3449T>C (p.Leu1150Pro)
c.1535T>C (p.Leu512Pro)
c.713T>C (p.Leu238Pro)
n.3728T>C
c.3755T>C (p.Leu1252Pro)
c.3683T>C (p.Leu1228Pro)
c.3545T>C (p.Leu1182Pro)
c.1631T>C (p.Leu544Pro)
16g.2111532A>TCA394382710PKD1c.3635T>A (p.Leu1212His)
n.310+808T>A
n.430+808T>A
n.585T>A
c.233+284T>A
n.790+808T>A
c.473-3174T>A
n.773+808T>A
c.2226+808T>A (n.2226+808T>A)
n.421+808T>A
c.590T>A (p.Leu197His)
c.3713T>A (p.Leu1238His)
c.3689T>A (p.Leu1230His)
c.3659T>A (p.Leu1220His)
c.3641T>A (p.Leu1214His)
c.3587T>A (p.Leu1196His)
c.3506T>A (p.Leu1169His)
c.3449T>A (p.Leu1150His)
c.1535T>A (p.Leu512His)
c.713T>A (p.Leu238His)
n.3728T>A
c.3755T>A (p.Leu1252His)
c.3683T>A (p.Leu1228His)
c.3545T>A (p.Leu1182His)
c.1631T>A (p.Leu544His)
16g.2111533G>ACA394382711PKD1c.3634C>T (p.Leu1212Phe)
n.310+807C>T
n.430+807C>T
n.584C>T
c.233+283C>T
n.790+807C>T
c.473-3175C>T
n.773+807C>T
c.2226+807C>T (n.2226+807C>T)
n.421+807C>T
c.589C>T (p.Leu197Phe)
c.3712C>T (p.Leu1238Phe)
c.3688C>T (p.Leu1230Phe)
c.3658C>T (p.Leu1220Phe)
c.3640C>T (p.Leu1214Phe)
c.3586C>T (p.Leu1196Phe)
c.3505C>T (p.Leu1169Phe)
c.3448C>T (p.Leu1150Phe)
c.1534C>T (p.Leu512Phe)
c.712C>T (p.Leu238Phe)
n.3727C>T
c.3754C>T (p.Leu1252Phe)
c.3682C>T (p.Leu1228Phe)
c.3544C>T (p.Leu1182Phe)
c.1630C>T (p.Leu544Phe)
 gnomAD v4
16g.2111533G>CCA394382712PKD1c.3634C>G (p.Leu1212Val)
n.310+807C>G
n.430+807C>G
n.584C>G
c.233+283C>G
n.790+807C>G
c.473-3175C>G
n.773+807C>G
c.2226+807C>G (n.2226+807C>G)
n.421+807C>G
c.589C>G (p.Leu197Val)
c.3712C>G (p.Leu1238Val)
c.3688C>G (p.Leu1230Val)
c.3658C>G (p.Leu1220Val)
c.3640C>G (p.Leu1214Val)
c.3586C>G (p.Leu1196Val)
c.3505C>G (p.Leu1169Val)
c.3448C>G (p.Leu1150Val)
c.1534C>G (p.Leu512Val)
c.712C>G (p.Leu238Val)
n.3727C>G
c.3754C>G (p.Leu1252Val)
c.3682C>G (p.Leu1228Val)
c.3544C>G (p.Leu1182Val)
c.1630C>G (p.Leu544Val)
16g.2111533G>TCA394382713PKD1c.3634C>A (p.Leu1212Ile)
n.310+807C>A
n.430+807C>A
n.584C>A
c.233+283C>A
n.790+807C>A
c.473-3175C>A
n.773+807C>A
c.2226+807C>A (n.2226+807C>A)
n.421+807C>A
c.589C>A (p.Leu197Ile)
c.3712C>A (p.Leu1238Ile)
c.3688C>A (p.Leu1230Ile)
c.3658C>A (p.Leu1220Ile)
c.3640C>A (p.Leu1214Ile)
c.3586C>A (p.Leu1196Ile)
c.3505C>A (p.Leu1169Ile)
c.3448C>A (p.Leu1150Ile)
c.1534C>A (p.Leu512Ile)
c.712C>A (p.Leu238Ile)
n.3727C>A
c.3754C>A (p.Leu1252Ile)
c.3682C>A (p.Leu1228Ile)
c.3544C>A (p.Leu1182Ile)
c.1630C>A (p.Leu544Ile)
16g.2111534C>ACA394382714PKD1c.3633G>T (p.Glu1211Asp)
n.310+806G>T
n.430+806G>T
n.583G>T
c.233+282G>T
n.790+806G>T
c.473-3176G>T
n.773+806G>T
c.2226+806G>T (n.2226+806G>T)
n.421+806G>T
c.588G>T (p.Glu196Asp)
c.3711G>T (p.Glu1237Asp)
c.3687G>T (p.Glu1229Asp)
c.3657G>T (p.Glu1219Asp)
c.3639G>T (p.Glu1213Asp)
c.3585G>T (p.Glu1195Asp)
c.3504G>T (p.Glu1168Asp)
c.3447G>T (p.Glu1149Asp)
c.1533G>T (p.Glu511Asp)
c.711G>T (p.Glu237Asp)
n.3726G>T
c.3753G>T (p.Glu1251Asp)
c.3681G>T (p.Glu1227Asp)
c.3543G>T (p.Glu1181Asp)
c.1629G>T (p.Glu543Asp)
 dbSNP gnomAD v2 gnomAD v4
16g.2111534C=CA2202047657PKD1c.3633G= (p.Glu1211=)
n.310+806G=
n.430+806G=
n.583G=
c.233+282G=
n.790+806G=
c.473-3176G=
n.773+806G=
c.2226+806G= (n.2226+806G=)
n.421+806G=
c.588G= (p.Glu196=)
c.3711G= (p.Glu1237=)
c.3687G= (p.Glu1229=)
c.3657G= (p.Glu1219=)
c.3639G= (p.Glu1213=)
c.3585G= (p.Glu1195=)
c.3504G= (p.Glu1168=)
c.3447G= (p.Glu1149=)
c.1533G= (p.Glu511=)
c.711G= (p.Glu237=)
n.3726G=
c.3753G= (p.Glu1251=)
c.3681G= (p.Glu1227=)
c.3543G= (p.Glu1181=)
c.1629G= (p.Glu543=)
16g.2111534C>GCA394382715PKD1c.3633G>C (p.Glu1211Asp)
n.310+806G>C
n.430+806G>C
n.583G>C
c.233+282G>C
n.790+806G>C
c.473-3176G>C
n.773+806G>C
c.2226+806G>C (n.2226+806G>C)
n.421+806G>C
c.588G>C (p.Glu196Asp)
c.3711G>C (p.Glu1237Asp)
c.3687G>C (p.Glu1229Asp)
c.3657G>C (p.Glu1219Asp)
c.3639G>C (p.Glu1213Asp)
c.3585G>C (p.Glu1195Asp)
c.3504G>C (p.Glu1168Asp)
c.3447G>C (p.Glu1149Asp)
c.1533G>C (p.Glu511Asp)
c.711G>C (p.Glu237Asp)
n.3726G>C
c.3753G>C (p.Glu1251Asp)
c.3681G>C (p.Glu1227Asp)
c.3543G>C (p.Glu1181Asp)
c.1629G>C (p.Glu543Asp)
16g.2111534C>TCA493049153PKD1c.3633G>A (p.Glu1211=)
n.310+806G>A
n.430+806G>A
n.583G>A
c.233+282G>A
n.790+806G>A
c.473-3176G>A
n.773+806G>A
c.2226+806G>A (n.2226+806G>A)
n.421+806G>A
c.588G>A (p.Glu196=)
c.3711G>A (p.Glu1237=)
c.3687G>A (p.Glu1229=)
c.3657G>A (p.Glu1219=)
c.3639G>A (p.Glu1213=)
c.3585G>A (p.Glu1195=)
c.3504G>A (p.Glu1168=)
c.3447G>A (p.Glu1149=)
c.1533G>A (p.Glu511=)
c.711G>A (p.Glu237=)
n.3726G>A
c.3753G>A (p.Glu1251=)
c.3681G>A (p.Glu1227=)
c.3543G>A (p.Glu1181=)
c.1629G>A (p.Glu543=)
16g.2111535T>ACA394382716PKD1c.3632A>T (p.Glu1211Val)
n.310+805A>T
n.430+805A>T
n.582A>T
c.233+281A>T
n.790+805A>T
c.473-3177A>T
n.773+805A>T
c.2226+805A>T (n.2226+805A>T)
n.421+805A>T
c.587A>T (p.Glu196Val)
c.3710A>T (p.Glu1237Val)
c.3686A>T (p.Glu1229Val)
c.3656A>T (p.Glu1219Val)
c.3638A>T (p.Glu1213Val)
c.3584A>T (p.Glu1195Val)
c.3503A>T (p.Glu1168Val)
c.3446A>T (p.Glu1149Val)
c.1532A>T (p.Glu511Val)
c.710A>T (p.Glu237Val)
n.3725A>T
c.3752A>T (p.Glu1251Val)
c.3680A>T (p.Glu1227Val)
c.3542A>T (p.Glu1181Val)
c.1628A>T (p.Glu543Val)
16g.2111535T>CCA394382717PKD1c.3632A>G (p.Glu1211Gly)
n.310+805A>G
n.430+805A>G
n.582A>G
c.233+281A>G
n.790+805A>G
c.473-3177A>G
n.773+805A>G
c.2226+805A>G (n.2226+805A>G)
n.421+805A>G
c.587A>G (p.Glu196Gly)
c.3710A>G (p.Glu1237Gly)
c.3686A>G (p.Glu1229Gly)
c.3656A>G (p.Glu1219Gly)
c.3638A>G (p.Glu1213Gly)
c.3584A>G (p.Glu1195Gly)
c.3503A>G (p.Glu1168Gly)
c.3446A>G (p.Glu1149Gly)
c.1532A>G (p.Glu511Gly)
c.710A>G (p.Glu237Gly)
n.3725A>G
c.3752A>G (p.Glu1251Gly)
c.3680A>G (p.Glu1227Gly)
c.3542A>G (p.Glu1181Gly)
c.1628A>G (p.Glu543Gly)
16g.2111535T>GCA394382718PKD1c.3632A>C (p.Glu1211Ala)
n.310+805A>C
n.430+805A>C
n.582A>C
c.233+281A>C
n.790+805A>C
c.473-3177A>C
n.773+805A>C
c.2226+805A>C (n.2226+805A>C)
n.421+805A>C
c.587A>C (p.Glu196Ala)
c.3710A>C (p.Glu1237Ala)
c.3686A>C (p.Glu1229Ala)
c.3656A>C (p.Glu1219Ala)
c.3638A>C (p.Glu1213Ala)
c.3584A>C (p.Glu1195Ala)
c.3503A>C (p.Glu1168Ala)
c.3446A>C (p.Glu1149Ala)
c.1532A>C (p.Glu511Ala)
c.710A>C (p.Glu237Ala)
n.3725A>C
c.3752A>C (p.Glu1251Ala)
c.3680A>C (p.Glu1227Ala)
c.3542A>C (p.Glu1181Ala)
c.1628A>C (p.Glu543Ala)
16g.2111536C>ACA394382720PKD1c.3631G>T (p.Glu1211Ter)
n.310+804G>T
n.430+804G>T
n.581G>T
c.233+280G>T
n.790+804G>T
c.473-3178G>T
n.773+804G>T
c.2226+804G>T (n.2226+804G>T)
n.421+804G>T
c.586G>T (p.Glu196Ter)
c.3709G>T (p.Glu1237Ter)
c.3685G>T (p.Glu1229Ter)
c.3655G>T (p.Glu1219Ter)
c.3637G>T (p.Glu1213Ter)
c.3583G>T (p.Glu1195Ter)
c.3502G>T (p.Glu1168Ter)
c.3445G>T (p.Glu1149Ter)
c.1531G>T (p.Glu511Ter)
c.709G>T (p.Glu237Ter)
n.3724G>T
c.3751G>T (p.Glu1251Ter)
c.3679G>T (p.Glu1227Ter)
c.3541G>T (p.Glu1181Ter)
c.1627G>T (p.Glu543Ter)
 ClinVar dbSNP
16g.2111536C=CA2202047658PKD1c.3631G= (p.Glu1211=)
n.310+804G=
n.430+804G=
n.581G=
c.233+280G=
n.790+804G=
c.473-3178G=
n.773+804G=
c.2226+804G= (n.2226+804G=)
n.421+804G=
c.586G= (p.Glu196=)
c.3709G= (p.Glu1237=)
c.3685G= (p.Glu1229=)
c.3655G= (p.Glu1219=)
c.3637G= (p.Glu1213=)
c.3583G= (p.Glu1195=)
c.3502G= (p.Glu1168=)
c.3445G= (p.Glu1149=)
c.1531G= (p.Glu511=)
c.709G= (p.Glu237=)
n.3724G=
c.3751G= (p.Glu1251=)
c.3679G= (p.Glu1227=)
c.3541G= (p.Glu1181=)
c.1627G= (p.Glu543=)
16g.2111536C>GCA394382721PKD1c.3631G>C (p.Glu1211Gln)
n.310+804G>C
n.430+804G>C
n.581G>C
c.233+280G>C
n.790+804G>C
c.473-3178G>C
n.773+804G>C
c.2226+804G>C (n.2226+804G>C)
n.421+804G>C
c.586G>C (p.Glu196Gln)
c.3709G>C (p.Glu1237Gln)
c.3685G>C (p.Glu1229Gln)
c.3655G>C (p.Glu1219Gln)
c.3637G>C (p.Glu1213Gln)
c.3583G>C (p.Glu1195Gln)
c.3502G>C (p.Glu1168Gln)
c.3445G>C (p.Glu1149Gln)
c.1531G>C (p.Glu511Gln)
c.709G>C (p.Glu237Gln)
n.3724G>C
c.3751G>C (p.Glu1251Gln)
c.3679G>C (p.Glu1227Gln)
c.3541G>C (p.Glu1181Gln)
c.1627G>C (p.Glu543Gln)
16g.2111536C>TCA394382719PKD1c.3631G>A (p.Glu1211Lys)
n.310+804G>A
n.430+804G>A
n.581G>A
c.233+280G>A
n.790+804G>A
c.473-3178G>A
n.773+804G>A
c.2226+804G>A (n.2226+804G>A)
n.421+804G>A
c.586G>A (p.Glu196Lys)
c.3709G>A (p.Glu1237Lys)
c.3685G>A (p.Glu1229Lys)
c.3655G>A (p.Glu1219Lys)
c.3637G>A (p.Glu1213Lys)
c.3583G>A (p.Glu1195Lys)
c.3502G>A (p.Glu1168Lys)
c.3445G>A (p.Glu1149Lys)
c.1531G>A (p.Glu511Lys)
c.709G>A (p.Glu237Lys)
n.3724G>A
c.3751G>A (p.Glu1251Lys)
c.3679G>A (p.Glu1227Lys)
c.3541G>A (p.Glu1181Lys)
c.1627G>A (p.Glu543Lys)
16g.2111537C>ACA394382722PKD1c.3630G>T (p.Glu1210Asp)
n.310+803G>T
n.430+803G>T
n.580G>T
c.233+279G>T
n.790+803G>T
c.473-3179G>T
n.773+803G>T
c.2226+803G>T (n.2226+803G>T)
n.421+803G>T
c.585G>T (p.Glu195Asp)
c.3708G>T (p.Glu1236Asp)
c.3684G>T (p.Glu1228Asp)
c.3654G>T (p.Glu1218Asp)
c.3636G>T (p.Glu1212Asp)
c.3582G>T (p.Glu1194Asp)
c.3501G>T (p.Glu1167Asp)
c.3444G>T (p.Glu1148Asp)
c.1530G>T (p.Glu510Asp)
c.708G>T (p.Glu236Asp)
n.3723G>T
c.3750G>T (p.Glu1250Asp)
c.3678G>T (p.Glu1226Asp)
c.3540G>T (p.Glu1180Asp)
c.1626G>T (p.Glu542Asp)
16g.2111537C=CA2202047659PKD1c.3630G= (p.Glu1210=)
n.310+803G=
n.430+803G=
n.580G=
c.233+279G=
n.790+803G=
c.473-3179G=
n.773+803G=
c.2226+803G= (n.2226+803G=)
n.421+803G=
c.585G= (p.Glu195=)
c.3708G= (p.Glu1236=)
c.3684G= (p.Glu1228=)
c.3654G= (p.Glu1218=)
c.3636G= (p.Glu1212=)
c.3582G= (p.Glu1194=)
c.3501G= (p.Glu1167=)
c.3444G= (p.Glu1148=)
c.1530G= (p.Glu510=)
c.708G= (p.Glu236=)
n.3723G=
c.3750G= (p.Glu1250=)
c.3678G= (p.Glu1226=)
c.3540G= (p.Glu1180=)
c.1626G= (p.Glu542=)
16g.2111537C>GCA394382723PKD1c.3630G>C (p.Glu1210Asp)
n.310+803G>C
n.430+803G>C
n.580G>C
c.233+279G>C
n.790+803G>C
c.473-3179G>C
n.773+803G>C
c.2226+803G>C (n.2226+803G>C)
n.421+803G>C
c.585G>C (p.Glu195Asp)
c.3708G>C (p.Glu1236Asp)
c.3684G>C (p.Glu1228Asp)
c.3654G>C (p.Glu1218Asp)
c.3636G>C (p.Glu1212Asp)
c.3582G>C (p.Glu1194Asp)
c.3501G>C (p.Glu1167Asp)
c.3444G>C (p.Glu1148Asp)
c.1530G>C (p.Glu510Asp)
c.708G>C (p.Glu236Asp)
n.3723G>C
c.3750G>C (p.Glu1250Asp)
c.3678G>C (p.Glu1226Asp)
c.3540G>C (p.Glu1180Asp)
c.1626G>C (p.Glu542Asp)
16g.2111537C>TCA493049160PKD1c.3630G>A (p.Glu1210=)
n.310+803G>A
n.430+803G>A
n.580G>A
c.233+279G>A
n.790+803G>A
c.473-3179G>A
n.773+803G>A
c.2226+803G>A (n.2226+803G>A)
n.421+803G>A
c.585G>A (p.Glu195=)
c.3708G>A (p.Glu1236=)
c.3684G>A (p.Glu1228=)
c.3654G>A (p.Glu1218=)
c.3636G>A (p.Glu1212=)
c.3582G>A (p.Glu1194=)
c.3501G>A (p.Glu1167=)
c.3444G>A (p.Glu1148=)
c.1530G>A (p.Glu510=)
c.708G>A (p.Glu236=)
n.3723G>A
c.3750G>A (p.Glu1250=)
c.3678G>A (p.Glu1226=)
c.3540G>A (p.Glu1180=)
c.1626G>A (p.Glu542=)
 dbSNP
16g.2111538T>ACA394382724PKD1c.3629A>T (p.Glu1210Val)
n.310+802A>T
n.430+802A>T
n.579A>T
c.233+278A>T
n.790+802A>T
c.473-3180A>T
n.773+802A>T
c.2226+802A>T (n.2226+802A>T)
n.421+802A>T
c.584A>T (p.Glu195Val)
c.3707A>T (p.Glu1236Val)
c.3683A>T (p.Glu1228Val)
c.3653A>T (p.Glu1218Val)
c.3635A>T (p.Glu1212Val)
c.3581A>T (p.Glu1194Val)
c.3500A>T (p.Glu1167Val)
c.3443A>T (p.Glu1148Val)
c.1529A>T (p.Glu510Val)
c.707A>T (p.Glu236Val)
n.3722A>T
c.3749A>T (p.Glu1250Val)
c.3677A>T (p.Glu1226Val)
c.3539A>T (p.Glu1180Val)
c.1625A>T (p.Glu542Val)
16g.2111538T>CCA394382725PKD1c.3629A>G (p.Glu1210Gly)
n.310+802A>G
n.430+802A>G
n.579A>G
c.233+278A>G
n.790+802A>G
c.473-3180A>G
n.773+802A>G
c.2226+802A>G (n.2226+802A>G)
n.421+802A>G
c.584A>G (p.Glu195Gly)
c.3707A>G (p.Glu1236Gly)
c.3683A>G (p.Glu1228Gly)
c.3653A>G (p.Glu1218Gly)
c.3635A>G (p.Glu1212Gly)
c.3581A>G (p.Glu1194Gly)
c.3500A>G (p.Glu1167Gly)
c.3443A>G (p.Glu1148Gly)
c.1529A>G (p.Glu510Gly)
c.707A>G (p.Glu236Gly)
n.3722A>G
c.3749A>G (p.Glu1250Gly)
c.3677A>G (p.Glu1226Gly)
c.3539A>G (p.Glu1180Gly)
c.1625A>G (p.Glu542Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2111538T>GCA394382726PKD1c.3629A>C (p.Glu1210Ala)
n.310+802A>C
n.430+802A>C
n.579A>C
c.233+278A>C
n.790+802A>C
c.473-3180A>C
n.773+802A>C
c.2226+802A>C (n.2226+802A>C)
n.421+802A>C
c.584A>C (p.Glu195Ala)
c.3707A>C (p.Glu1236Ala)
c.3683A>C (p.Glu1228Ala)
c.3653A>C (p.Glu1218Ala)
c.3635A>C (p.Glu1212Ala)
c.3581A>C (p.Glu1194Ala)
c.3500A>C (p.Glu1167Ala)
c.3443A>C (p.Glu1148Ala)
c.1529A>C (p.Glu510Ala)
c.707A>C (p.Glu236Ala)
n.3722A>C
c.3749A>C (p.Glu1250Ala)
c.3677A>C (p.Glu1226Ala)
c.3539A>C (p.Glu1180Ala)
c.1625A>C (p.Glu542Ala)
16g.2111538T=CA2202047660PKD1c.3629A= (p.Glu1210=)
n.310+802A=
n.430+802A=
n.579A=
c.233+278A=
n.790+802A=
c.473-3180A=
n.773+802A=
c.2226+802A= (n.2226+802A=)
n.421+802A=
c.584A= (p.Glu195=)
c.3707A= (p.Glu1236=)
c.3683A= (p.Glu1228=)
c.3653A= (p.Glu1218=)
c.3635A= (p.Glu1212=)
c.3581A= (p.Glu1194=)
c.3500A= (p.Glu1167=)
c.3443A= (p.Glu1148=)
c.1529A= (p.Glu510=)
c.707A= (p.Glu236=)
n.3722A=
c.3749A= (p.Glu1250=)
c.3677A= (p.Glu1226=)
c.3539A= (p.Glu1180=)
c.1625A= (p.Glu542=)
16g.2111539C>ACA394382727PKD1c.3628G>T (p.Glu1210Ter)
n.310+801G>T
n.430+801G>T
n.578G>T
c.233+277G>T
n.790+801G>T
c.473-3181G>T
n.773+801G>T
c.2226+801G>T (n.2226+801G>T)
n.421+801G>T
c.583G>T (p.Glu195Ter)
c.3706G>T (p.Glu1236Ter)
c.3682G>T (p.Glu1228Ter)
c.3652G>T (p.Glu1218Ter)
c.3634G>T (p.Glu1212Ter)
c.3580G>T (p.Glu1194Ter)
c.3499G>T (p.Glu1167Ter)
c.3442G>T (p.Glu1148Ter)
c.1528G>T (p.Glu510Ter)
c.706G>T (p.Glu236Ter)
n.3721G>T
c.3748G>T (p.Glu1250Ter)
c.3676G>T (p.Glu1226Ter)
c.3538G>T (p.Glu1180Ter)
c.1624G>T (p.Glu542Ter)
 gnomAD v4
16g.2111539C>GCA394382728PKD1c.3628G>C (p.Glu1210Gln)
n.310+801G>C
n.430+801G>C
n.578G>C
c.233+277G>C
n.790+801G>C
c.473-3181G>C
n.773+801G>C
c.2226+801G>C (n.2226+801G>C)
n.421+801G>C
c.583G>C (p.Glu195Gln)
c.3706G>C (p.Glu1236Gln)
c.3682G>C (p.Glu1228Gln)
c.3652G>C (p.Glu1218Gln)
c.3634G>C (p.Glu1212Gln)
c.3580G>C (p.Glu1194Gln)
c.3499G>C (p.Glu1167Gln)
c.3442G>C (p.Glu1148Gln)
c.1528G>C (p.Glu510Gln)
c.706G>C (p.Glu236Gln)
n.3721G>C
c.3748G>C (p.Glu1250Gln)
c.3676G>C (p.Glu1226Gln)
c.3538G>C (p.Glu1180Gln)
c.1624G>C (p.Glu542Gln)
16g.2111539C>TCA394382729PKD1c.3628G>A (p.Glu1210Lys)
n.310+801G>A
n.430+801G>A
n.578G>A
c.233+277G>A
n.790+801G>A
c.473-3181G>A
n.773+801G>A
c.2226+801G>A (n.2226+801G>A)
n.421+801G>A
c.583G>A (p.Glu195Lys)
c.3706G>A (p.Glu1236Lys)
c.3682G>A (p.Glu1228Lys)
c.3652G>A (p.Glu1218Lys)
c.3634G>A (p.Glu1212Lys)
c.3580G>A (p.Glu1194Lys)
c.3499G>A (p.Glu1167Lys)
c.3442G>A (p.Glu1148Lys)
c.1528G>A (p.Glu510Lys)
c.706G>A (p.Glu236Lys)
n.3721G>A
c.3748G>A (p.Glu1250Lys)
c.3676G>A (p.Glu1226Lys)
c.3538G>A (p.Glu1180Lys)
c.1624G>A (p.Glu542Lys)
16g.2111540A>CCA394382730PKD1c.3627T>G (p.Phe1209Leu)
n.310+800T>G
n.430+800T>G
n.577T>G
c.233+276T>G
n.790+800T>G
c.473-3182T>G
n.773+800T>G
c.2226+800T>G (n.2226+800T>G)
n.421+800T>G
c.582T>G (p.Phe194Leu)
c.3705T>G (p.Phe1235Leu)
c.3681T>G (p.Phe1227Leu)
c.3651T>G (p.Phe1217Leu)
c.3633T>G (p.Phe1211Leu)
c.3579T>G (p.Phe1193Leu)
c.3498T>G (p.Phe1166Leu)
c.3441T>G (p.Phe1147Leu)
c.1527T>G (p.Phe509Leu)
c.705T>G (p.Phe235Leu)
n.3720T>G
c.3747T>G (p.Phe1249Leu)
c.3675T>G (p.Phe1225Leu)
c.3537T>G (p.Phe1179Leu)
c.1623T>G (p.Phe541Leu)
16g.2111540A>GCA493049169PKD1c.3627T>C (p.Phe1209=)
n.310+800T>C
n.430+800T>C
n.577T>C
c.233+276T>C
n.790+800T>C
c.473-3182T>C
n.773+800T>C
c.2226+800T>C (n.2226+800T>C)
n.421+800T>C
c.582T>C (p.Phe194=)
c.3705T>C (p.Phe1235=)
c.3681T>C (p.Phe1227=)
c.3651T>C (p.Phe1217=)
c.3633T>C (p.Phe1211=)
c.3579T>C (p.Phe1193=)
c.3498T>C (p.Phe1166=)
c.3441T>C (p.Phe1147=)
c.1527T>C (p.Phe509=)
c.705T>C (p.Phe235=)
n.3720T>C
c.3747T>C (p.Phe1249=)
c.3675T>C (p.Phe1225=)
c.3537T>C (p.Phe1179=)
c.1623T>C (p.Phe541=)
 gnomAD v4
16g.2111540A>TCA394382731PKD1c.3627T>A (p.Phe1209Leu)
n.310+800T>A
n.430+800T>A
n.577T>A
c.233+276T>A
n.790+800T>A
c.473-3182T>A
n.773+800T>A
c.2226+800T>A (n.2226+800T>A)
n.421+800T>A
c.582T>A (p.Phe194Leu)
c.3705T>A (p.Phe1235Leu)
c.3681T>A (p.Phe1227Leu)
c.3651T>A (p.Phe1217Leu)
c.3633T>A (p.Phe1211Leu)
c.3579T>A (p.Phe1193Leu)
c.3498T>A (p.Phe1166Leu)
c.3441T>A (p.Phe1147Leu)
c.1527T>A (p.Phe509Leu)
c.705T>A (p.Phe235Leu)
n.3720T>A
c.3747T>A (p.Phe1249Leu)
c.3675T>A (p.Phe1225Leu)
c.3537T>A (p.Phe1179Leu)
c.1623T>A (p.Phe541Leu)
16g.2111541A>CCA394382732PKD1c.3626T>G (p.Phe1209Cys)
n.310+799T>G
n.430+799T>G
n.576T>G
c.233+275T>G
n.790+799T>G
c.473-3183T>G
n.773+799T>G
c.2226+799T>G (n.2226+799T>G)
n.421+799T>G
c.581T>G (p.Phe194Cys)
c.3704T>G (p.Phe1235Cys)
c.3680T>G (p.Phe1227Cys)
c.3650T>G (p.Phe1217Cys)
c.3632T>G (p.Phe1211Cys)
c.3578T>G (p.Phe1193Cys)
c.3497T>G (p.Phe1166Cys)
c.3440T>G (p.Phe1147Cys)
c.1526T>G (p.Phe509Cys)
c.704T>G (p.Phe235Cys)
n.3719T>G
c.3746T>G (p.Phe1249Cys)
c.3674T>G (p.Phe1225Cys)
c.3536T>G (p.Phe1179Cys)
c.1622T>G (p.Phe541Cys)
16g.2111541A>GCA394382733PKD1c.3626T>C (p.Phe1209Ser)
n.310+799T>C
n.430+799T>C
n.576T>C
c.233+275T>C
n.790+799T>C
c.473-3183T>C
n.773+799T>C
c.2226+799T>C (n.2226+799T>C)
n.421+799T>C
c.581T>C (p.Phe194Ser)
c.3704T>C (p.Phe1235Ser)
c.3680T>C (p.Phe1227Ser)
c.3650T>C (p.Phe1217Ser)
c.3632T>C (p.Phe1211Ser)
c.3578T>C (p.Phe1193Ser)
c.3497T>C (p.Phe1166Ser)
c.3440T>C (p.Phe1147Ser)
c.1526T>C (p.Phe509Ser)
c.704T>C (p.Phe235Ser)
n.3719T>C
c.3746T>C (p.Phe1249Ser)
c.3674T>C (p.Phe1225Ser)
c.3536T>C (p.Phe1179Ser)
c.1622T>C (p.Phe541Ser)
 gnomAD v4
16g.2111541A>TCA394382734PKD1c.3626T>A (p.Phe1209Tyr)
n.310+799T>A
n.430+799T>A
n.576T>A
c.233+275T>A
n.790+799T>A
c.473-3183T>A
n.773+799T>A
c.2226+799T>A (n.2226+799T>A)
n.421+799T>A
c.581T>A (p.Phe194Tyr)
c.3704T>A (p.Phe1235Tyr)
c.3680T>A (p.Phe1227Tyr)
c.3650T>A (p.Phe1217Tyr)
c.3632T>A (p.Phe1211Tyr)
c.3578T>A (p.Phe1193Tyr)
c.3497T>A (p.Phe1166Tyr)
c.3440T>A (p.Phe1147Tyr)
c.1526T>A (p.Phe509Tyr)
c.704T>A (p.Phe235Tyr)
n.3719T>A
c.3746T>A (p.Phe1249Tyr)
c.3674T>A (p.Phe1225Tyr)
c.3536T>A (p.Phe1179Tyr)
c.1622T>A (p.Phe541Tyr)
16g.2111542A=CA2202047661PKD1c.3625T= (p.Phe1209=)
n.310+798T=
n.430+798T=
n.575T=
c.233+274T=
n.790+798T=
c.473-3184T=
n.773+798T=
c.2226+798T= (n.2226+798T=)
n.421+798T=
c.580T= (p.Phe194=)
c.3703T= (p.Phe1235=)
c.3679T= (p.Phe1227=)
c.3649T= (p.Phe1217=)
c.3631T= (p.Phe1211=)
c.3577T= (p.Phe1193=)
c.3496T= (p.Phe1166=)
c.3439T= (p.Phe1147=)
c.1525T= (p.Phe509=)
c.703T= (p.Phe235=)
n.3718T=
c.3745T= (p.Phe1249=)
c.3673T= (p.Phe1225=)
c.3535T= (p.Phe1179=)
c.1621T= (p.Phe541=)
16g.2111542A>CCA394382735PKD1c.3625T>G (p.Phe1209Val)
n.310+798T>G
n.430+798T>G
n.575T>G
c.233+274T>G
n.790+798T>G
c.473-3184T>G
n.773+798T>G
c.2226+798T>G (n.2226+798T>G)
n.421+798T>G
c.580T>G (p.Phe194Val)
c.3703T>G (p.Phe1235Val)
c.3679T>G (p.Phe1227Val)
c.3649T>G (p.Phe1217Val)
c.3631T>G (p.Phe1211Val)
c.3577T>G (p.Phe1193Val)
c.3496T>G (p.Phe1166Val)
c.3439T>G (p.Phe1147Val)
c.1525T>G (p.Phe509Val)
c.703T>G (p.Phe235Val)
n.3718T>G
c.3745T>G (p.Phe1249Val)
c.3673T>G (p.Phe1225Val)
c.3535T>G (p.Phe1179Val)
c.1621T>G (p.Phe541Val)
16g.2111542A>GCA394382737PKD1c.3625T>C (p.Phe1209Leu)
n.310+798T>C
n.430+798T>C
n.575T>C
c.233+274T>C
n.790+798T>C
c.473-3184T>C
n.773+798T>C
c.2226+798T>C (n.2226+798T>C)
n.421+798T>C
c.580T>C (p.Phe194Leu)
c.3703T>C (p.Phe1235Leu)
c.3679T>C (p.Phe1227Leu)
c.3649T>C (p.Phe1217Leu)
c.3631T>C (p.Phe1211Leu)
c.3577T>C (p.Phe1193Leu)
c.3496T>C (p.Phe1166Leu)
c.3439T>C (p.Phe1147Leu)
c.1525T>C (p.Phe509Leu)
c.703T>C (p.Phe235Leu)
n.3718T>C
c.3745T>C (p.Phe1249Leu)
c.3673T>C (p.Phe1225Leu)
c.3535T>C (p.Phe1179Leu)
c.1621T>C (p.Phe541Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.2111542A>TCA394382736PKD1c.3625T>A (p.Phe1209Ile)
n.310+798T>A
n.430+798T>A
n.575T>A
c.233+274T>A
n.790+798T>A
c.473-3184T>A
n.773+798T>A
c.2226+798T>A (n.2226+798T>A)
n.421+798T>A
c.580T>A (p.Phe194Ile)
c.3703T>A (p.Phe1235Ile)
c.3679T>A (p.Phe1227Ile)
c.3649T>A (p.Phe1217Ile)
c.3631T>A (p.Phe1211Ile)
c.3577T>A (p.Phe1193Ile)
c.3496T>A (p.Phe1166Ile)
c.3439T>A (p.Phe1147Ile)
c.1525T>A (p.Phe509Ile)
c.703T>A (p.Phe235Ile)
n.3718T>A
c.3745T>A (p.Phe1249Ile)
c.3673T>A (p.Phe1225Ile)
c.3535T>A (p.Phe1179Ile)
c.1621T>A (p.Phe541Ile)
 COSMIC
16g.2111543G>ACA493049176PKD1c.3624C>T (p.Val1208=)
n.310+797C>T
n.430+797C>T
n.574C>T
c.233+273C>T
n.790+797C>T
c.473-3185C>T
n.773+797C>T
c.2226+797C>T (n.2226+797C>T)
n.421+797C>T
c.579C>T (p.Val193=)
c.3702C>T (p.Val1234=)
c.3678C>T (p.Val1226=)
c.3648C>T (p.Val1216=)
c.3630C>T (p.Val1210=)
c.3576C>T (p.Val1192=)
c.3495C>T (p.Val1165=)
c.3438C>T (p.Val1146=)
c.1524C>T (p.Val508=)
c.702C>T (p.Val234=)
n.3717C>T
c.3744C>T (p.Val1248=)
c.3672C>T (p.Val1224=)
c.3534C>T (p.Val1178=)
c.1620C>T (p.Val540=)
16g.2111543G>CCA493049177PKD1c.3624C>G (p.Val1208=)
n.310+797C>G
n.430+797C>G
n.574C>G
c.233+273C>G
n.790+797C>G
c.473-3185C>G
n.773+797C>G
c.2226+797C>G (n.2226+797C>G)
n.421+797C>G
c.579C>G (p.Val193=)
c.3702C>G (p.Val1234=)
c.3678C>G (p.Val1226=)
c.3648C>G (p.Val1216=)
c.3630C>G (p.Val1210=)
c.3576C>G (p.Val1192=)
c.3495C>G (p.Val1165=)
c.3438C>G (p.Val1146=)
c.1524C>G (p.Val508=)
c.702C>G (p.Val234=)
n.3717C>G
c.3744C>G (p.Val1248=)
c.3672C>G (p.Val1224=)
c.3534C>G (p.Val1178=)
c.1620C>G (p.Val540=)
 dbSNP gnomAD v3 gnomAD v4
16g.2111543G=CA2202047662PKD1c.3624C= (p.Val1208=)
n.310+797C=
n.430+797C=
n.574C=
c.233+273C=
n.790+797C=
c.473-3185C=
n.773+797C=
c.2226+797C= (n.2226+797C=)
n.421+797C=
c.579C= (p.Val193=)
c.3702C= (p.Val1234=)
c.3678C= (p.Val1226=)
c.3648C= (p.Val1216=)
c.3630C= (p.Val1210=)
c.3576C= (p.Val1192=)
c.3495C= (p.Val1165=)
c.3438C= (p.Val1146=)
c.1524C= (p.Val508=)
c.702C= (p.Val234=)
n.3717C=
c.3744C= (p.Val1248=)
c.3672C= (p.Val1224=)
c.3534C= (p.Val1178=)
c.1620C= (p.Val540=)
16g.2111543G>TCA493049179PKD1c.3624C>A (p.Val1208=)
n.310+797C>A
n.430+797C>A
n.574C>A
c.233+273C>A
n.790+797C>A
c.473-3185C>A
n.773+797C>A
c.2226+797C>A (n.2226+797C>A)
n.421+797C>A
c.579C>A (p.Val193=)
c.3702C>A (p.Val1234=)
c.3678C>A (p.Val1226=)
c.3648C>A (p.Val1216=)
c.3630C>A (p.Val1210=)
c.3576C>A (p.Val1192=)
c.3495C>A (p.Val1165=)
c.3438C>A (p.Val1146=)
c.1524C>A (p.Val508=)
c.702C>A (p.Val234=)
n.3717C>A
c.3744C>A (p.Val1248=)
c.3672C>A (p.Val1224=)
c.3534C>A (p.Val1178=)
c.1620C>A (p.Val540=)
16g.2111544A=CA2202047663PKD1c.3623T= (p.Val1208=)
n.310+796T=
n.430+796T=
n.573T=
c.233+272T=
n.790+796T=
c.473-3186T=
n.773+796T=
c.2226+796T= (n.2226+796T=)
n.421+796T=
c.578T= (p.Val193=)
c.3701T= (p.Val1234=)
c.3677T= (p.Val1226=)
c.3647T= (p.Val1216=)
c.3629T= (p.Val1210=)
c.3575T= (p.Val1192=)
c.3494T= (p.Val1165=)
c.3437T= (p.Val1146=)
c.1523T= (p.Val508=)
c.701T= (p.Val234=)
n.3716T=
c.3743T= (p.Val1248=)
c.3671T= (p.Val1224=)
c.3533T= (p.Val1178=)
c.1619T= (p.Val540=)
16g.2111544A>CCA394382738PKD1c.3623T>G (p.Val1208Gly)
n.310+796T>G
n.430+796T>G
n.573T>G
c.233+272T>G
n.790+796T>G
c.473-3186T>G
n.773+796T>G
c.2226+796T>G (n.2226+796T>G)
n.421+796T>G
c.578T>G (p.Val193Gly)
c.3701T>G (p.Val1234Gly)
c.3677T>G (p.Val1226Gly)
c.3647T>G (p.Val1216Gly)
c.3629T>G (p.Val1210Gly)
c.3575T>G (p.Val1192Gly)
c.3494T>G (p.Val1165Gly)
c.3437T>G (p.Val1146Gly)
c.1523T>G (p.Val508Gly)
c.701T>G (p.Val234Gly)
n.3716T>G
c.3743T>G (p.Val1248Gly)
c.3671T>G (p.Val1224Gly)
c.3533T>G (p.Val1178Gly)
c.1619T>G (p.Val540Gly)
16g.2111544A>GCA7832696PKD1c.3623T>C (p.Val1208Ala)
n.310+796T>C
n.430+796T>C
n.573T>C
c.233+272T>C
n.790+796T>C
c.473-3186T>C
n.773+796T>C
c.2226+796T>C (n.2226+796T>C)
n.421+796T>C
c.578T>C (p.Val193Ala)
c.3701T>C (p.Val1234Ala)
c.3677T>C (p.Val1226Ala)
c.3647T>C (p.Val1216Ala)
c.3629T>C (p.Val1210Ala)
c.3575T>C (p.Val1192Ala)
c.3494T>C (p.Val1165Ala)
c.3437T>C (p.Val1146Ala)
c.1523T>C (p.Val508Ala)
c.701T>C (p.Val234Ala)
n.3716T>C
c.3743T>C (p.Val1248Ala)
c.3671T>C (p.Val1224Ala)
c.3533T>C (p.Val1178Ala)
c.1619T>C (p.Val540Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2111544A>TCA394382739PKD1c.3623T>A (p.Val1208Asp)
n.310+796T>A
n.430+796T>A
n.573T>A
c.233+272T>A
n.790+796T>A
c.473-3186T>A
n.773+796T>A
c.2226+796T>A (n.2226+796T>A)
n.421+796T>A
c.578T>A (p.Val193Asp)
c.3701T>A (p.Val1234Asp)
c.3677T>A (p.Val1226Asp)
c.3647T>A (p.Val1216Asp)
c.3629T>A (p.Val1210Asp)
c.3575T>A (p.Val1192Asp)
c.3494T>A (p.Val1165Asp)
c.3437T>A (p.Val1146Asp)
c.1523T>A (p.Val508Asp)
c.701T>A (p.Val234Asp)
n.3716T>A
c.3743T>A (p.Val1248Asp)
c.3671T>A (p.Val1224Asp)
c.3533T>A (p.Val1178Asp)
c.1619T>A (p.Val540Asp)
16g.2111545_2111546insACACCA2695222475PKD1c.3623_3624insGTGT (p.Phe1209CysfsTer3)
n.310+796_310+797insGTGT
n.430+796_430+797insGTGT
n.573_574insGTGT
c.233+272_233+273insGTGT
n.790+796_790+797insGTGT
c.473-3186_473-3185insGTGT
n.773+796_773+797insGTGT
c.2226+796_2226+797insGTGT (n.2226+796_2226+797insGTGT)
n.421+796_421+797insGTGT
c.578_579insGTGT (p.Phe194CysfsTer3)
c.3701_3702insGTGT (p.Phe1235CysfsTer3)
c.3677_3678insGTGT (p.Phe1227CysfsTer3)
c.3647_3648insGTGT (p.Phe1217CysfsTer3)
c.3629_3630insGTGT (p.Phe1211CysfsTer3)
c.3575_3576insGTGT (p.Phe1193CysfsTer3)
c.3494_3495insGTGT (p.Phe1166CysfsTer3)
c.3437_3438insGTGT (p.Phe1147CysfsTer3)
c.1523_1524insGTGT (p.Phe509CysfsTer3)
c.701_702insGTGT (p.Phe235CysfsTer3)
n.3716_3717insGTGT
c.3743_3744insGTGT (p.Phe1249CysfsTer3)
c.3671_3672insGTGT (p.Phe1225CysfsTer3)
c.3533_3534insGTGT (p.Phe1179CysfsTer3)
c.1619_1620insGTGT (p.Phe541CysfsTer3)
16g.2111545C>ACA394382740PKD1c.3622G>T (p.Val1208Phe)
n.310+795G>T
n.430+795G>T
n.572G>T
c.233+271G>T
n.790+795G>T
c.473-3187G>T
n.773+795G>T
c.2226+795G>T (n.2226+795G>T)
n.421+795G>T
c.577G>T (p.Val193Phe)
c.3700G>T (p.Val1234Phe)
c.3676G>T (p.Val1226Phe)
c.3646G>T (p.Val1216Phe)
c.3628G>T (p.Val1210Phe)
c.3574G>T (p.Val1192Phe)
c.3493G>T (p.Val1165Phe)
c.3436G>T (p.Val1146Phe)
c.1522G>T (p.Val508Phe)
c.700G>T (p.Val234Phe)
n.3715G>T
c.3742G>T (p.Val1248Phe)
c.3670G>T (p.Val1224Phe)
c.3532G>T (p.Val1178Phe)
c.1618G>T (p.Val540Phe)
16g.2111545C=CA2202047664PKD1c.3622G= (p.Val1208=)
n.310+795G=
n.430+795G=
n.572G=
c.233+271G=
n.790+795G=
c.473-3187G=
n.773+795G=
c.2226+795G= (n.2226+795G=)
n.421+795G=
c.577G= (p.Val193=)
c.3700G= (p.Val1234=)
c.3676G= (p.Val1226=)
c.3646G= (p.Val1216=)
c.3628G= (p.Val1210=)
c.3574G= (p.Val1192=)
c.3493G= (p.Val1165=)
c.3436G= (p.Val1146=)
c.1522G= (p.Val508=)
c.700G= (p.Val234=)
n.3715G=
c.3742G= (p.Val1248=)
c.3670G= (p.Val1224=)
c.3532G= (p.Val1178=)
c.1618G= (p.Val540=)
16g.2111545C>GCA394382741PKD1c.3622G>C (p.Val1208Leu)
n.310+795G>C
n.430+795G>C
n.572G>C
c.233+271G>C
n.790+795G>C
c.473-3187G>C
n.773+795G>C
c.2226+795G>C (n.2226+795G>C)
n.421+795G>C
c.577G>C (p.Val193Leu)
c.3700G>C (p.Val1234Leu)
c.3676G>C (p.Val1226Leu)
c.3646G>C (p.Val1216Leu)
c.3628G>C (p.Val1210Leu)
c.3574G>C (p.Val1192Leu)
c.3493G>C (p.Val1165Leu)
c.3436G>C (p.Val1146Leu)
c.1522G>C (p.Val508Leu)
c.700G>C (p.Val234Leu)
n.3715G>C
c.3742G>C (p.Val1248Leu)
c.3670G>C (p.Val1224Leu)
c.3532G>C (p.Val1178Leu)
c.1618G>C (p.Val540Leu)
 gnomAD v4
16g.2111545C>TCA7832697PKD1c.3622G>A (p.Val1208Ile)
n.310+795G>A
n.430+795G>A
n.572G>A
c.233+271G>A
n.790+795G>A
c.473-3187G>A
n.773+795G>A
c.2226+795G>A (n.2226+795G>A)
n.421+795G>A
c.577G>A (p.Val193Ile)
c.3700G>A (p.Val1234Ile)
c.3676G>A (p.Val1226Ile)
c.3646G>A (p.Val1216Ile)
c.3628G>A (p.Val1210Ile)
c.3574G>A (p.Val1192Ile)
c.3493G>A (p.Val1165Ile)
c.3436G>A (p.Val1146Ile)
c.1522G>A (p.Val508Ile)
c.700G>A (p.Val234Ile)
n.3715G>A
c.3742G>A (p.Val1248Ile)
c.3670G>A (p.Val1224Ile)
c.3532G>A (p.Val1178Ile)
c.1618G>A (p.Val540Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111548_2111557delCA2695222476PKD1c.3613_3622del (p.Asp1205SerfsTer12)
n.310+786_310+795del
n.430+786_430+795del
n.563_572del
c.233+262_233+271del
n.790+786_790+795del
c.473-3196_473-3187del
n.773+786_773+795del
c.2226+786_2226+795del (n.2226+786_2226+795del)
n.421+786_421+795del
c.568_577del (p.Asp190SerfsTer12)
c.3691_3700del (p.Asp1231SerfsTer12)
c.3667_3676del (p.Asp1223SerfsTer12)
c.3637_3646del (p.Asp1213SerfsTer12)
c.3619_3628del (p.Asp1207SerfsTer12)
c.3565_3574del (p.Asp1189SerfsTer12)
c.3484_3493del (p.Asp1162SerfsTer12)
c.3427_3436del (p.Asp1143SerfsTer12)
c.1513_1522del (p.Asp505SerfsTer12)
c.691_700del (p.Asp231SerfsTer12)
n.3706_3715del
c.3733_3742del (p.Asp1245SerfsTer12)
c.3661_3670del (p.Asp1221SerfsTer12)
c.3523_3532del (p.Asp1175SerfsTer12)
c.1609_1618del (p.Asp537SerfsTer12)
16g.2111546G>ACA7832698PKD1c.3621C>T (p.Arg1207=)
n.310+794C>T
n.430+794C>T
n.571C>T
c.233+270C>T
n.790+794C>T
c.473-3188C>T
n.773+794C>T
c.2226+794C>T (n.2226+794C>T)
n.421+794C>T
c.576C>T (p.Arg192=)
c.3699C>T (p.Arg1233=)
c.3675C>T (p.Arg1225=)
c.3645C>T (p.Arg1215=)
c.3627C>T (p.Arg1209=)
c.3573C>T (p.Arg1191=)
c.3492C>T (p.Arg1164=)
c.3435C>T (p.Arg1145=)
c.1521C>T (p.Arg507=)
c.699C>T (p.Arg233=)
n.3714C>T
c.3741C>T (p.Arg1247=)
c.3669C>T (p.Arg1223=)
c.3531C>T (p.Arg1177=)
c.1617C>T (p.Arg539=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111546G>CCA493049186PKD1c.3621C>G (p.Arg1207=)
n.310+794C>G
n.430+794C>G
n.571C>G
c.233+270C>G
n.790+794C>G
c.473-3188C>G
n.773+794C>G
c.2226+794C>G (n.2226+794C>G)
n.421+794C>G
c.576C>G (p.Arg192=)
c.3699C>G (p.Arg1233=)
c.3675C>G (p.Arg1225=)
c.3645C>G (p.Arg1215=)
c.3627C>G (p.Arg1209=)
c.3573C>G (p.Arg1191=)
c.3492C>G (p.Arg1164=)
c.3435C>G (p.Arg1145=)
c.1521C>G (p.Arg507=)
c.699C>G (p.Arg233=)
n.3714C>G
c.3741C>G (p.Arg1247=)
c.3669C>G (p.Arg1223=)
c.3531C>G (p.Arg1177=)
c.1617C>G (p.Arg539=)
16g.2111546G=CA2202047666PKD1c.3621C= (p.Arg1207=)
n.310+794C=
n.430+794C=
n.571C=
c.233+270C=
n.790+794C=
c.473-3188C=
n.773+794C=
c.2226+794C= (n.2226+794C=)
n.421+794C=
c.576C= (p.Arg192=)
c.3699C= (p.Arg1233=)
c.3675C= (p.Arg1225=)
c.3645C= (p.Arg1215=)
c.3627C= (p.Arg1209=)
c.3573C= (p.Arg1191=)
c.3492C= (p.Arg1164=)
c.3435C= (p.Arg1145=)
c.1521C= (p.Arg507=)
c.699C= (p.Arg233=)
n.3714C=
c.3741C= (p.Arg1247=)
c.3669C= (p.Arg1223=)
c.3531C= (p.Arg1177=)
c.1617C= (p.Arg539=)
16g.2111546G>TCA493049188PKD1c.3621C>A (p.Arg1207=)
n.310+794C>A
n.430+794C>A
n.571C>A
c.233+270C>A
n.790+794C>A
c.473-3188C>A
n.773+794C>A
c.2226+794C>A (n.2226+794C>A)
n.421+794C>A
c.576C>A (p.Arg192=)
c.3699C>A (p.Arg1233=)
c.3675C>A (p.Arg1225=)
c.3645C>A (p.Arg1215=)
c.3627C>A (p.Arg1209=)
c.3573C>A (p.Arg1191=)
c.3492C>A (p.Arg1164=)
c.3435C>A (p.Arg1145=)
c.1521C>A (p.Arg507=)
c.699C>A (p.Arg233=)
n.3714C>A
c.3741C>A (p.Arg1247=)
c.3669C>A (p.Arg1223=)
c.3531C>A (p.Arg1177=)
c.1617C>A (p.Arg539=)
16g.2111546_2111566delinsGCGCACATCCGCCTGGGCCGCCA2202047665PKD1c.3601_3621delinsGCGGCCCAGGCGGATGTGCGC (p.Ala1201=)
n.310+774_310+794delinsGCGGCCCAGGCGGATGTGCGC
n.430+774_430+794delinsGCGGCCCAGGCGGATGTGCGC
n.551_571delinsGCGGCCCAGGCGGATGTGCGC
c.233+250_233+270delinsGCGGCCCAGGCGGATGTGCGC
n.790+774_790+794delinsGCGGCCCAGGCGGATGTGCGC
c.473-3208_473-3188delinsGCGGCCCAGGCGGATGTGCGC
n.773+774_773+794delinsGCGGCCCAGGCGGATGTGCGC
c.2226+774_2226+794delinsGCGGCCCAGGCGGATGTGCGC (n.2226+774_2226+794delinsGCGGCCCAGGCGGATGTGCGC)
n.421+774_421+794delinsGCGGCCCAGGCGGATGTGCGC
c.556_576delinsGCGGCCCAGGCGGATGTGCGC (p.Ala186=)
c.3679_3699delinsGCGGCCCAGGCGGATGTGCGC (p.Ala1227=)
c.3655_3675delinsGCGGCCCAGGCGGATGTGCGC (p.Ala1219=)
c.3625_3645delinsGCGGCCCAGGCGGATGTGCGC (p.Ala1209=)
c.3607_3627delinsGCGGCCCAGGCGGATGTGCGC (p.Ala1203=)
c.3553_3573delinsGCGGCCCAGGCGGATGTGCGC (p.Ala1185=)
c.3472_3492delinsGCGGCCCAGGCGGATGTGCGC (p.Ala1158=)
c.3415_3435delinsGCGGCCCAGGCGGATGTGCGC (p.Ala1139=)
c.1501_1521delinsGCGGCCCAGGCGGATGTGCGC (p.Ala501=)
c.679_699delinsGCGGCCCAGGCGGATGTGCGC (p.Ala227=)
n.3694_3714delinsGCGGCCCAGGCGGATGTGCGC
c.3721_3741delinsGCGGCCCAGGCGGATGTGCGC (p.Ala1241=)
c.3649_3669delinsGCGGCCCAGGCGGATGTGCGC (p.Ala1217=)
c.3511_3531delinsGCGGCCCAGGCGGATGTGCGC (p.Ala1171=)
c.1597_1617delinsGCGGCCCAGGCGGATGTGCGC (p.Ala533=)
16g.2111547C>ACA394382742PKD1c.3620G>T (p.Arg1207Leu)
n.310+793G>T
n.430+793G>T
n.570G>T
c.233+269G>T
n.790+793G>T
c.473-3189G>T
n.773+793G>T
c.2226+793G>T (n.2226+793G>T)
n.421+793G>T
c.575G>T (p.Arg192Leu)
c.3698G>T (p.Arg1233Leu)
c.3674G>T (p.Arg1225Leu)
c.3644G>T (p.Arg1215Leu)
c.3626G>T (p.Arg1209Leu)
c.3572G>T (p.Arg1191Leu)
c.3491G>T (p.Arg1164Leu)
c.3434G>T (p.Arg1145Leu)
c.1520G>T (p.Arg507Leu)
c.698G>T (p.Arg233Leu)
n.3713G>T
c.3740G>T (p.Arg1247Leu)
c.3668G>T (p.Arg1223Leu)
c.3530G>T (p.Arg1177Leu)
c.1616G>T (p.Arg539Leu)
16g.2111547C=CA2202047667PKD1c.3620G= (p.Arg1207=)
n.310+793G=
n.430+793G=
n.570G=
c.233+269G=
n.790+793G=
c.473-3189G=
n.773+793G=
c.2226+793G= (n.2226+793G=)
n.421+793G=
c.575G= (p.Arg192=)
c.3698G= (p.Arg1233=)
c.3674G= (p.Arg1225=)
c.3644G= (p.Arg1215=)
c.3626G= (p.Arg1209=)
c.3572G= (p.Arg1191=)
c.3491G= (p.Arg1164=)
c.3434G= (p.Arg1145=)
c.1520G= (p.Arg507=)
c.698G= (p.Arg233=)
n.3713G=
c.3740G= (p.Arg1247=)
c.3668G= (p.Arg1223=)
c.3530G= (p.Arg1177=)
c.1616G= (p.Arg539=)
16g.2111547C>GCA394382743PKD1c.3620G>C (p.Arg1207Pro)
n.310+793G>C
n.430+793G>C
n.570G>C
c.233+269G>C
n.790+793G>C
c.473-3189G>C
n.773+793G>C
c.2226+793G>C (n.2226+793G>C)
n.421+793G>C
c.575G>C (p.Arg192Pro)
c.3698G>C (p.Arg1233Pro)
c.3674G>C (p.Arg1225Pro)
c.3644G>C (p.Arg1215Pro)
c.3626G>C (p.Arg1209Pro)
c.3572G>C (p.Arg1191Pro)
c.3491G>C (p.Arg1164Pro)
c.3434G>C (p.Arg1145Pro)
c.1520G>C (p.Arg507Pro)
c.698G>C (p.Arg233Pro)
n.3713G>C
c.3740G>C (p.Arg1247Pro)
c.3668G>C (p.Arg1223Pro)
c.3530G>C (p.Arg1177Pro)
c.1616G>C (p.Arg539Pro)
16g.2111547C>TCA7832700PKD1c.3620G>A (p.Arg1207His)
n.310+793G>A
n.430+793G>A
n.570G>A
c.233+269G>A
n.790+793G>A
c.473-3189G>A
n.773+793G>A
c.2226+793G>A (n.2226+793G>A)
n.421+793G>A
c.575G>A (p.Arg192His)
c.3698G>A (p.Arg1233His)
c.3674G>A (p.Arg1225His)
c.3644G>A (p.Arg1215His)
c.3626G>A (p.Arg1209His)
c.3572G>A (p.Arg1191His)
c.3491G>A (p.Arg1164His)
c.3434G>A (p.Arg1145His)
c.1520G>A (p.Arg507His)
c.698G>A (p.Arg233His)
n.3713G>A
c.3740G>A (p.Arg1247His)
c.3668G>A (p.Arg1223His)
c.3530G>A (p.Arg1177His)
c.1616G>A (p.Arg539His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111552_2111571delCA7832699PKD1c.3601_3620del (p.Ala1201ArgfsTer3)
n.310+774_310+793del
n.430+774_430+793del
n.551_570del
c.233+250_233+269del
n.790+774_790+793del
c.473-3208_473-3189del
n.773+774_773+793del
c.2226+774_2226+793del (n.2226+774_2226+793del)
n.421+774_421+793del
c.556_575del (p.Ala186ArgfsTer3)
c.3679_3698del (p.Ala1227ArgfsTer3)
c.3655_3674del (p.Ala1219ArgfsTer3)
c.3625_3644del (p.Ala1209ArgfsTer3)
c.3607_3626del (p.Ala1203ArgfsTer3)
c.3553_3572del (p.Ala1185ArgfsTer3)
c.3472_3491del (p.Ala1158ArgfsTer3)
c.3415_3434del (p.Ala1139ArgfsTer3)
c.1501_1520del (p.Ala501ArgfsTer3)
c.679_698del (p.Ala227ArgfsTer3)
n.3694_3713del
c.3721_3740del (p.Ala1241ArgfsTer3)
c.3649_3668del (p.Ala1217ArgfsTer3)
c.3511_3530del (p.Ala1171ArgfsTer3)
c.1597_1616del (p.Ala533ArgfsTer3)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2111548G>ACA7832702PKD1c.3619C>T (p.Arg1207Cys)
n.310+792C>T
n.430+792C>T
n.569C>T
c.233+268C>T
n.790+792C>T
c.473-3190C>T
n.773+792C>T
c.2226+792C>T (n.2226+792C>T)
n.421+792C>T
c.574C>T (p.Arg192Cys)
c.3697C>T (p.Arg1233Cys)
c.3673C>T (p.Arg1225Cys)
c.3643C>T (p.Arg1215Cys)
c.3625C>T (p.Arg1209Cys)
c.3571C>T (p.Arg1191Cys)
c.3490C>T (p.Arg1164Cys)
c.3433C>T (p.Arg1145Cys)
c.1519C>T (p.Arg507Cys)
c.697C>T (p.Arg233Cys)
n.3712C>T
c.3739C>T (p.Arg1247Cys)
c.3667C>T (p.Arg1223Cys)
c.3529C>T (p.Arg1177Cys)
c.1615C>T (p.Arg539Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111548G>CCA394382744PKD1c.3619C>G (p.Arg1207Gly)
n.310+792C>G
n.430+792C>G
n.569C>G
c.233+268C>G
n.790+792C>G
c.473-3190C>G
n.773+792C>G
c.2226+792C>G (n.2226+792C>G)
n.421+792C>G
c.574C>G (p.Arg192Gly)
c.3697C>G (p.Arg1233Gly)
c.3673C>G (p.Arg1225Gly)
c.3643C>G (p.Arg1215Gly)
c.3625C>G (p.Arg1209Gly)
c.3571C>G (p.Arg1191Gly)
c.3490C>G (p.Arg1164Gly)
c.3433C>G (p.Arg1145Gly)
c.1519C>G (p.Arg507Gly)
c.697C>G (p.Arg233Gly)
n.3712C>G
c.3739C>G (p.Arg1247Gly)
c.3667C>G (p.Arg1223Gly)
c.3529C>G (p.Arg1177Gly)
c.1615C>G (p.Arg539Gly)
 dbSNP gnomAD v2 gnomAD v4
16g.2111548G=CA2202047668PKD1c.3619C= (p.Arg1207=)
n.310+792C=
n.430+792C=
n.569C=
c.233+268C=
n.790+792C=
c.473-3190C=
n.773+792C=
c.2226+792C= (n.2226+792C=)
n.421+792C=
c.574C= (p.Arg192=)
c.3697C= (p.Arg1233=)
c.3673C= (p.Arg1225=)
c.3643C= (p.Arg1215=)
c.3625C= (p.Arg1209=)
c.3571C= (p.Arg1191=)
c.3490C= (p.Arg1164=)
c.3433C= (p.Arg1145=)
c.1519C= (p.Arg507=)
c.697C= (p.Arg233=)
n.3712C=
c.3739C= (p.Arg1247=)
c.3667C= (p.Arg1223=)
c.3529C= (p.Arg1177=)
c.1615C= (p.Arg539=)
16g.2111548G>TCA7832701PKD1c.3619C>A (p.Arg1207Ser)
n.310+792C>A
n.430+792C>A
n.569C>A
c.233+268C>A
n.790+792C>A
c.473-3190C>A
n.773+792C>A
c.2226+792C>A (n.2226+792C>A)
n.421+792C>A
c.574C>A (p.Arg192Ser)
c.3697C>A (p.Arg1233Ser)
c.3673C>A (p.Arg1225Ser)
c.3643C>A (p.Arg1215Ser)
c.3625C>A (p.Arg1209Ser)
c.3571C>A (p.Arg1191Ser)
c.3490C>A (p.Arg1164Ser)
c.3433C>A (p.Arg1145Ser)
c.1519C>A (p.Arg507Ser)
c.697C>A (p.Arg233Ser)
n.3712C>A
c.3739C>A (p.Arg1247Ser)
c.3667C>A (p.Arg1223Ser)
c.3529C>A (p.Arg1177Ser)
c.1615C>A (p.Arg539Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111549C>ACA493049196PKD1c.3618G>T (p.Val1206=)
n.310+791G>T
n.430+791G>T
n.568G>T
c.233+267G>T
n.790+791G>T
c.473-3191G>T
n.773+791G>T
c.2226+791G>T (n.2226+791G>T)
n.421+791G>T
c.573G>T (p.Val191=)
c.3696G>T (p.Val1232=)
c.3672G>T (p.Val1224=)
c.3642G>T (p.Val1214=)
c.3624G>T (p.Val1208=)
c.3570G>T (p.Val1190=)
c.3489G>T (p.Val1163=)
c.3432G>T (p.Val1144=)
c.1518G>T (p.Val506=)
c.696G>T (p.Val232=)
n.3711G>T
c.3738G>T (p.Val1246=)
c.3666G>T (p.Val1222=)
c.3528G>T (p.Val1176=)
c.1614G>T (p.Val538=)
 dbSNP gnomAD v3 gnomAD v4
16g.2111549C=CA2202047669PKD1c.3618G= (p.Val1206=)
n.310+791G=
n.430+791G=
n.568G=
c.233+267G=
n.790+791G=
c.473-3191G=
n.773+791G=
c.2226+791G= (n.2226+791G=)
n.421+791G=
c.573G= (p.Val191=)
c.3696G= (p.Val1232=)
c.3672G= (p.Val1224=)
c.3642G= (p.Val1214=)
c.3624G= (p.Val1208=)
c.3570G= (p.Val1190=)
c.3489G= (p.Val1163=)
c.3432G= (p.Val1144=)
c.1518G= (p.Val506=)
c.696G= (p.Val232=)
n.3711G=
c.3738G= (p.Val1246=)
c.3666G= (p.Val1222=)
c.3528G= (p.Val1176=)
c.1614G= (p.Val538=)
16g.2111549C>GCA493049197PKD1c.3618G>C (p.Val1206=)
n.310+791G>C
n.430+791G>C
n.568G>C
c.233+267G>C
n.790+791G>C
c.473-3191G>C
n.773+791G>C
c.2226+791G>C (n.2226+791G>C)
n.421+791G>C
c.573G>C (p.Val191=)
c.3696G>C (p.Val1232=)
c.3672G>C (p.Val1224=)
c.3642G>C (p.Val1214=)
c.3624G>C (p.Val1208=)
c.3570G>C (p.Val1190=)
c.3489G>C (p.Val1163=)
c.3432G>C (p.Val1144=)
c.1518G>C (p.Val506=)
c.696G>C (p.Val232=)
n.3711G>C
c.3738G>C (p.Val1246=)
c.3666G>C (p.Val1222=)
c.3528G>C (p.Val1176=)
c.1614G>C (p.Val538=)
16g.2111549C>TCA493049198PKD1c.3618G>A (p.Val1206=)
n.310+791G>A
n.430+791G>A
n.568G>A
c.233+267G>A
n.790+791G>A
c.473-3191G>A
n.773+791G>A
c.2226+791G>A (n.2226+791G>A)
n.421+791G>A
c.573G>A (p.Val191=)
c.3696G>A (p.Val1232=)
c.3672G>A (p.Val1224=)
c.3642G>A (p.Val1214=)
c.3624G>A (p.Val1208=)
c.3570G>A (p.Val1190=)
c.3489G>A (p.Val1163=)
c.3432G>A (p.Val1144=)
c.1518G>A (p.Val506=)
c.696G>A (p.Val232=)
n.3711G>A
c.3738G>A (p.Val1246=)
c.3666G>A (p.Val1222=)
c.3528G>A (p.Val1176=)
c.1614G>A (p.Val538=)
 ClinVar dbSNP gnomAD v4
16g.2111550A>CCA394382745PKD1c.3617T>G (p.Val1206Gly)
n.310+790T>G
n.430+790T>G
n.567T>G
c.233+266T>G
n.790+790T>G
c.473-3192T>G
n.773+790T>G
c.2226+790T>G (n.2226+790T>G)
n.421+790T>G
c.572T>G (p.Val191Gly)
c.3695T>G (p.Val1232Gly)
c.3671T>G (p.Val1224Gly)
c.3641T>G (p.Val1214Gly)
c.3623T>G (p.Val1208Gly)
c.3569T>G (p.Val1190Gly)
c.3488T>G (p.Val1163Gly)
c.3431T>G (p.Val1144Gly)
c.1517T>G (p.Val506Gly)
c.695T>G (p.Val232Gly)
n.3710T>G
c.3737T>G (p.Val1246Gly)
c.3665T>G (p.Val1222Gly)
c.3527T>G (p.Val1176Gly)
c.1613T>G (p.Val538Gly)
16g.2111550A>GCA394382747PKD1c.3617T>C (p.Val1206Ala)
n.310+790T>C
n.430+790T>C
n.567T>C
c.233+266T>C
n.790+790T>C
c.473-3192T>C
n.773+790T>C
c.2226+790T>C (n.2226+790T>C)
n.421+790T>C
c.572T>C (p.Val191Ala)
c.3695T>C (p.Val1232Ala)
c.3671T>C (p.Val1224Ala)
c.3641T>C (p.Val1214Ala)
c.3623T>C (p.Val1208Ala)
c.3569T>C (p.Val1190Ala)
c.3488T>C (p.Val1163Ala)
c.3431T>C (p.Val1144Ala)
c.1517T>C (p.Val506Ala)
c.695T>C (p.Val232Ala)
n.3710T>C
c.3737T>C (p.Val1246Ala)
c.3665T>C (p.Val1222Ala)
c.3527T>C (p.Val1176Ala)
c.1613T>C (p.Val538Ala)
 gnomAD v4
16g.2111550A>TCA394382746PKD1c.3617T>A (p.Val1206Glu)
n.310+790T>A
n.430+790T>A
n.567T>A
c.233+266T>A
n.790+790T>A
c.473-3192T>A
n.773+790T>A
c.2226+790T>A (n.2226+790T>A)
n.421+790T>A
c.572T>A (p.Val191Glu)
c.3695T>A (p.Val1232Glu)
c.3671T>A (p.Val1224Glu)
c.3641T>A (p.Val1214Glu)
c.3623T>A (p.Val1208Glu)
c.3569T>A (p.Val1190Glu)
c.3488T>A (p.Val1163Glu)
c.3431T>A (p.Val1144Glu)
c.1517T>A (p.Val506Glu)
c.695T>A (p.Val232Glu)
n.3710T>A
c.3737T>A (p.Val1246Glu)
c.3665T>A (p.Val1222Glu)
c.3527T>A (p.Val1176Glu)
c.1613T>A (p.Val538Glu)
16g.2111551C>ACA394382748PKD1c.3616G>T (p.Val1206Leu)
n.310+789G>T
n.430+789G>T
n.566G>T
c.233+265G>T
n.790+789G>T
c.473-3193G>T
n.773+789G>T
c.2226+789G>T (n.2226+789G>T)
n.421+789G>T
c.571G>T (p.Val191Leu)
c.3694G>T (p.Val1232Leu)
c.3670G>T (p.Val1224Leu)
c.3640G>T (p.Val1214Leu)
c.3622G>T (p.Val1208Leu)
c.3568G>T (p.Val1190Leu)
c.3487G>T (p.Val1163Leu)
c.3430G>T (p.Val1144Leu)
c.1516G>T (p.Val506Leu)
c.694G>T (p.Val232Leu)
n.3709G>T
c.3736G>T (p.Val1246Leu)
c.3664G>T (p.Val1222Leu)
c.3526G>T (p.Val1176Leu)
c.1612G>T (p.Val538Leu)
 COSMIC
16g.2111551C>GCA394382749PKD1c.3616G>C (p.Val1206Leu)
n.310+789G>C
n.430+789G>C
n.566G>C
c.233+265G>C
n.790+789G>C
c.473-3193G>C
n.773+789G>C
c.2226+789G>C (n.2226+789G>C)
n.421+789G>C
c.571G>C (p.Val191Leu)
c.3694G>C (p.Val1232Leu)
c.3670G>C (p.Val1224Leu)
c.3640G>C (p.Val1214Leu)
c.3622G>C (p.Val1208Leu)
c.3568G>C (p.Val1190Leu)
c.3487G>C (p.Val1163Leu)
c.3430G>C (p.Val1144Leu)
c.1516G>C (p.Val506Leu)
c.694G>C (p.Val232Leu)
n.3709G>C
c.3736G>C (p.Val1246Leu)
c.3664G>C (p.Val1222Leu)
c.3526G>C (p.Val1176Leu)
c.1612G>C (p.Val538Leu)
16g.2111551C>TCA394382750PKD1c.3616G>A (p.Val1206Met)
n.310+789G>A
n.430+789G>A
n.566G>A
c.233+265G>A
n.790+789G>A
c.473-3193G>A
n.773+789G>A
c.2226+789G>A (n.2226+789G>A)
n.421+789G>A
c.571G>A (p.Val191Met)
c.3694G>A (p.Val1232Met)
c.3670G>A (p.Val1224Met)
c.3640G>A (p.Val1214Met)
c.3622G>A (p.Val1208Met)
c.3568G>A (p.Val1190Met)
c.3487G>A (p.Val1163Met)
c.3430G>A (p.Val1144Met)
c.1516G>A (p.Val506Met)
c.694G>A (p.Val232Met)
n.3709G>A
c.3736G>A (p.Val1246Met)
c.3664G>A (p.Val1222Met)
c.3526G>A (p.Val1176Met)
c.1612G>A (p.Val538Met)
 gnomAD v4
16g.2111552A=CA2202047670PKD1c.3615T= (p.Asp1205=)
n.310+788T=
n.430+788T=
n.565T=
c.233+264T=
n.790+788T=
c.473-3194T=
n.773+788T=
c.2226+788T= (n.2226+788T=)
n.421+788T=
c.570T= (p.Asp190=)
c.3693T= (p.Asp1231=)
c.3669T= (p.Asp1223=)
c.3639T= (p.Asp1213=)
c.3621T= (p.Asp1207=)
c.3567T= (p.Asp1189=)
c.3486T= (p.Asp1162=)
c.3429T= (p.Asp1143=)
c.1515T= (p.Asp505=)
c.693T= (p.Asp231=)
n.3708T=
c.3735T= (p.Asp1245=)
c.3663T= (p.Asp1221=)
c.3525T= (p.Asp1175=)
c.1611T= (p.Asp537=)
16g.2111552A>CCA394382751PKD1c.3615T>G (p.Asp1205Glu)
n.310+788T>G
n.430+788T>G
n.565T>G
c.233+264T>G
n.790+788T>G
c.473-3194T>G
n.773+788T>G
c.2226+788T>G (n.2226+788T>G)
n.421+788T>G
c.570T>G (p.Asp190Glu)
c.3693T>G (p.Asp1231Glu)
c.3669T>G (p.Asp1223Glu)
c.3639T>G (p.Asp1213Glu)
c.3621T>G (p.Asp1207Glu)
c.3567T>G (p.Asp1189Glu)
c.3486T>G (p.Asp1162Glu)
c.3429T>G (p.Asp1143Glu)
c.1515T>G (p.Asp505Glu)
c.693T>G (p.Asp231Glu)
n.3708T>G
c.3735T>G (p.Asp1245Glu)
c.3663T>G (p.Asp1221Glu)
c.3525T>G (p.Asp1175Glu)
c.1611T>G (p.Asp537Glu)
16g.2111552A>GCA276781899PKD1c.3615T>C (p.Asp1205=)
n.310+788T>C
n.430+788T>C
n.565T>C
c.233+264T>C
n.790+788T>C
c.473-3194T>C
n.773+788T>C
c.2226+788T>C (n.2226+788T>C)
n.421+788T>C
c.570T>C (p.Asp190=)
c.3693T>C (p.Asp1231=)
c.3669T>C (p.Asp1223=)
c.3639T>C (p.Asp1213=)
c.3621T>C (p.Asp1207=)
c.3567T>C (p.Asp1189=)
c.3486T>C (p.Asp1162=)
c.3429T>C (p.Asp1143=)
c.1515T>C (p.Asp505=)
c.693T>C (p.Asp231=)
n.3708T>C
c.3735T>C (p.Asp1245=)
c.3663T>C (p.Asp1221=)
c.3525T>C (p.Asp1175=)
c.1611T>C (p.Asp537=)
 dbSNP gnomAD v2 gnomAD v4
16g.2111552A>TCA394382752PKD1c.3615T>A (p.Asp1205Glu)
n.310+788T>A
n.430+788T>A
n.565T>A
c.233+264T>A
n.790+788T>A
c.473-3194T>A
n.773+788T>A
c.2226+788T>A (n.2226+788T>A)
n.421+788T>A
c.570T>A (p.Asp190Glu)
c.3693T>A (p.Asp1231Glu)
c.3669T>A (p.Asp1223Glu)
c.3639T>A (p.Asp1213Glu)
c.3621T>A (p.Asp1207Glu)
c.3567T>A (p.Asp1189Glu)
c.3486T>A (p.Asp1162Glu)
c.3429T>A (p.Asp1143Glu)
c.1515T>A (p.Asp505Glu)
c.693T>A (p.Asp231Glu)
n.3708T>A
c.3735T>A (p.Asp1245Glu)
c.3663T>A (p.Asp1221Glu)
c.3525T>A (p.Asp1175Glu)
c.1611T>A (p.Asp537Glu)
16g.2111553T>ACA394382753PKD1c.3614A>T (p.Asp1205Val)
n.310+787A>T
n.430+787A>T
n.564A>T
c.233+263A>T
n.790+787A>T
c.473-3195A>T
n.773+787A>T
c.2226+787A>T (n.2226+787A>T)
n.421+787A>T
c.569A>T (p.Asp190Val)
c.3692A>T (p.Asp1231Val)
c.3668A>T (p.Asp1223Val)
c.3638A>T (p.Asp1213Val)
c.3620A>T (p.Asp1207Val)
c.3566A>T (p.Asp1189Val)
c.3485A>T (p.Asp1162Val)
c.3428A>T (p.Asp1143Val)
c.1514A>T (p.Asp505Val)
c.692A>T (p.Asp231Val)
n.3707A>T
c.3734A>T (p.Asp1245Val)
c.3662A>T (p.Asp1221Val)
c.3524A>T (p.Asp1175Val)
c.1610A>T (p.Asp537Val)
16g.2111553T>CCA394382754PKD1c.3614A>G (p.Asp1205Gly)
n.310+787A>G
n.430+787A>G
n.564A>G
c.233+263A>G
n.790+787A>G
c.473-3195A>G
n.773+787A>G
c.2226+787A>G (n.2226+787A>G)
n.421+787A>G
c.569A>G (p.Asp190Gly)
c.3692A>G (p.Asp1231Gly)
c.3668A>G (p.Asp1223Gly)
c.3638A>G (p.Asp1213Gly)
c.3620A>G (p.Asp1207Gly)
c.3566A>G (p.Asp1189Gly)
c.3485A>G (p.Asp1162Gly)
c.3428A>G (p.Asp1143Gly)
c.1514A>G (p.Asp505Gly)
c.692A>G (p.Asp231Gly)
n.3707A>G
c.3734A>G (p.Asp1245Gly)
c.3662A>G (p.Asp1221Gly)
c.3524A>G (p.Asp1175Gly)
c.1610A>G (p.Asp537Gly)
16g.2111553T>GCA394382755PKD1c.3614A>C (p.Asp1205Ala)
n.310+787A>C
n.430+787A>C
n.564A>C
c.233+263A>C
n.790+787A>C
c.473-3195A>C
n.773+787A>C
c.2226+787A>C (n.2226+787A>C)
n.421+787A>C
c.569A>C (p.Asp190Ala)
c.3692A>C (p.Asp1231Ala)
c.3668A>C (p.Asp1223Ala)
c.3638A>C (p.Asp1213Ala)
c.3620A>C (p.Asp1207Ala)
c.3566A>C (p.Asp1189Ala)
c.3485A>C (p.Asp1162Ala)
c.3428A>C (p.Asp1143Ala)
c.1514A>C (p.Asp505Ala)
c.692A>C (p.Asp231Ala)
n.3707A>C
c.3734A>C (p.Asp1245Ala)
c.3662A>C (p.Asp1221Ala)
c.3524A>C (p.Asp1175Ala)
c.1610A>C (p.Asp537Ala)
16g.2111554C>ACA394382756PKD1c.3613G>T (p.Asp1205Tyr)
n.310+786G>T
n.430+786G>T
n.563G>T
c.233+262G>T
n.790+786G>T
c.473-3196G>T
n.773+786G>T
c.2226+786G>T (n.2226+786G>T)
n.421+786G>T
c.568G>T (p.Asp190Tyr)
c.3691G>T (p.Asp1231Tyr)
c.3667G>T (p.Asp1223Tyr)
c.3637G>T (p.Asp1213Tyr)
c.3619G>T (p.Asp1207Tyr)
c.3565G>T (p.Asp1189Tyr)
c.3484G>T (p.Asp1162Tyr)
c.3427G>T (p.Asp1143Tyr)
c.1513G>T (p.Asp505Tyr)
c.691G>T (p.Asp231Tyr)
n.3706G>T
c.3733G>T (p.Asp1245Tyr)
c.3661G>T (p.Asp1221Tyr)
c.3523G>T (p.Asp1175Tyr)
c.1609G>T (p.Asp537Tyr)
16g.2111554C=CA2202047671PKD1c.3613G= (p.Asp1205=)
n.310+786G=
n.430+786G=
n.563G=
c.233+262G=
n.790+786G=
c.473-3196G=
n.773+786G=
c.2226+786G= (n.2226+786G=)
n.421+786G=
c.568G= (p.Asp190=)
c.3691G= (p.Asp1231=)
c.3667G= (p.Asp1223=)
c.3637G= (p.Asp1213=)
c.3619G= (p.Asp1207=)
c.3565G= (p.Asp1189=)
c.3484G= (p.Asp1162=)
c.3427G= (p.Asp1143=)
c.1513G= (p.Asp505=)
c.691G= (p.Asp231=)
n.3706G=
c.3733G= (p.Asp1245=)
c.3661G= (p.Asp1221=)
c.3523G= (p.Asp1175=)
c.1609G= (p.Asp537=)
16g.2111554C>GCA7832703PKD1c.3613G>C (p.Asp1205His)
n.310+786G>C
n.430+786G>C
n.563G>C
c.233+262G>C
n.790+786G>C
c.473-3196G>C
n.773+786G>C
c.2226+786G>C (n.2226+786G>C)
n.421+786G>C
c.568G>C (p.Asp190His)
c.3691G>C (p.Asp1231His)
c.3667G>C (p.Asp1223His)
c.3637G>C (p.Asp1213His)
c.3619G>C (p.Asp1207His)
c.3565G>C (p.Asp1189His)
c.3484G>C (p.Asp1162His)
c.3427G>C (p.Asp1143His)
c.1513G>C (p.Asp505His)
c.691G>C (p.Asp231His)
n.3706G>C
c.3733G>C (p.Asp1245His)
c.3661G>C (p.Asp1221His)
c.3523G>C (p.Asp1175His)
c.1609G>C (p.Asp537His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111554C>TCA394382757PKD1c.3613G>A (p.Asp1205Asn)
n.310+786G>A
n.430+786G>A
n.563G>A
c.233+262G>A
n.790+786G>A
c.473-3196G>A
n.773+786G>A
c.2226+786G>A (n.2226+786G>A)
n.421+786G>A
c.568G>A (p.Asp190Asn)
c.3691G>A (p.Asp1231Asn)
c.3667G>A (p.Asp1223Asn)
c.3637G>A (p.Asp1213Asn)
c.3619G>A (p.Asp1207Asn)
c.3565G>A (p.Asp1189Asn)
c.3484G>A (p.Asp1162Asn)
c.3427G>A (p.Asp1143Asn)
c.1513G>A (p.Asp505Asn)
c.691G>A (p.Asp231Asn)
n.3706G>A
c.3733G>A (p.Asp1245Asn)
c.3661G>A (p.Asp1221Asn)
c.3523G>A (p.Asp1175Asn)
c.1609G>A (p.Asp537Asn)
16g.2111555delCA2825002328PKD1c.3613del (p.Asp1205MetfsTer15)
n.310+786del
n.430+786del
n.563del
c.233+262del
n.790+786del
c.473-3196del
n.773+786del
c.2226+786del (n.2226+786del)
n.421+786del
c.568del (p.Asp190MetfsTer15)
c.3691del (p.Asp1231MetfsTer15)
c.3667del (p.Asp1223MetfsTer15)
c.3637del (p.Asp1213MetfsTer15)
c.3619del (p.Asp1207MetfsTer15)
c.3565del (p.Asp1189MetfsTer15)
c.3484del (p.Asp1162MetfsTer15)
c.3427del (p.Asp1143MetfsTer15)
c.1513del (p.Asp505MetfsTer15)
c.691del (p.Asp231MetfsTer15)
n.3706del
c.3733del (p.Asp1245MetfsTer15)
c.3661del (p.Asp1221MetfsTer15)
c.3523del (p.Asp1175MetfsTer15)
c.1609del (p.Asp537MetfsTer15)
 ClinVar
16g.2111555C>ACA493049214PKD1c.3612G>T (p.Ala1204=)
n.310+785G>T
n.430+785G>T
n.562G>T
c.233+261G>T
n.790+785G>T
c.473-3197G>T
n.773+785G>T
c.2226+785G>T (n.2226+785G>T)
n.421+785G>T
c.567G>T (p.Ala189=)
c.3690G>T (p.Ala1230=)
c.3666G>T (p.Ala1222=)
c.3636G>T (p.Ala1212=)
c.3618G>T (p.Ala1206=)
c.3564G>T (p.Ala1188=)
c.3483G>T (p.Ala1161=)
c.3426G>T (p.Ala1142=)
c.1512G>T (p.Ala504=)
c.690G>T (p.Ala230=)
n.3705G>T
c.3732G>T (p.Ala1244=)
c.3660G>T (p.Ala1220=)
c.3522G>T (p.Ala1174=)
c.1608G>T (p.Ala536=)
 dbSNP gnomAD v4
16g.2111555C=CA2202047672PKD1c.3612G= (p.Ala1204=)
n.310+785G=
n.430+785G=
n.562G=
c.233+261G=
n.790+785G=
c.473-3197G=
n.773+785G=
c.2226+785G= (n.2226+785G=)
n.421+785G=
c.567G= (p.Ala189=)
c.3690G= (p.Ala1230=)
c.3666G= (p.Ala1222=)
c.3636G= (p.Ala1212=)
c.3618G= (p.Ala1206=)
c.3564G= (p.Ala1188=)
c.3483G= (p.Ala1161=)
c.3426G= (p.Ala1142=)
c.1512G= (p.Ala504=)
c.690G= (p.Ala230=)
n.3705G=
c.3732G= (p.Ala1244=)
c.3660G= (p.Ala1220=)
c.3522G= (p.Ala1174=)
c.1608G= (p.Ala536=)
16g.2111555C>GCA493049212PKD1c.3612G>C (p.Ala1204=)
n.310+785G>C
n.430+785G>C
n.562G>C
c.233+261G>C
n.790+785G>C
c.473-3197G>C
n.773+785G>C
c.2226+785G>C (n.2226+785G>C)
n.421+785G>C
c.567G>C (p.Ala189=)
c.3690G>C (p.Ala1230=)
c.3666G>C (p.Ala1222=)
c.3636G>C (p.Ala1212=)
c.3618G>C (p.Ala1206=)
c.3564G>C (p.Ala1188=)
c.3483G>C (p.Ala1161=)
c.3426G>C (p.Ala1142=)
c.1512G>C (p.Ala504=)
c.690G>C (p.Ala230=)
n.3705G>C
c.3732G>C (p.Ala1244=)
c.3660G>C (p.Ala1220=)
c.3522G>C (p.Ala1174=)
c.1608G>C (p.Ala536=)
16g.2111555C>TCA7832704PKD1c.3612G>A (p.Ala1204=)
n.310+785G>A
n.430+785G>A
n.562G>A
c.233+261G>A
n.790+785G>A
c.473-3197G>A
n.773+785G>A
c.2226+785G>A (n.2226+785G>A)
n.421+785G>A
c.567G>A (p.Ala189=)
c.3690G>A (p.Ala1230=)
c.3666G>A (p.Ala1222=)
c.3636G>A (p.Ala1212=)
c.3618G>A (p.Ala1206=)
c.3564G>A (p.Ala1188=)
c.3483G>A (p.Ala1161=)
c.3426G>A (p.Ala1142=)
c.1512G>A (p.Ala504=)
c.690G>A (p.Ala230=)
n.3705G>A
c.3732G>A (p.Ala1244=)
c.3660G>A (p.Ala1220=)
c.3522G>A (p.Ala1174=)
c.1608G>A (p.Ala536=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111556G>ACA7832705PKD1c.3611C>T (p.Ala1204Val)
n.310+784C>T
n.430+784C>T
n.561C>T
c.233+260C>T
n.790+784C>T
c.473-3198C>T
n.773+784C>T
c.2226+784C>T (n.2226+784C>T)
n.421+784C>T
c.566C>T (p.Ala189Val)
c.3689C>T (p.Ala1230Val)
c.3665C>T (p.Ala1222Val)
c.3635C>T (p.Ala1212Val)
c.3617C>T (p.Ala1206Val)
c.3563C>T (p.Ala1188Val)
c.3482C>T (p.Ala1161Val)
c.3425C>T (p.Ala1142Val)
c.1511C>T (p.Ala504Val)
c.689C>T (p.Ala230Val)
n.3704C>T
c.3731C>T (p.Ala1244Val)
c.3659C>T (p.Ala1220Val)
c.3521C>T (p.Ala1174Val)
c.1607C>T (p.Ala536Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111556G>CCA394382758PKD1c.3611C>G (p.Ala1204Gly)
n.310+784C>G
n.430+784C>G
n.561C>G
c.233+260C>G
n.790+784C>G
c.473-3198C>G
n.773+784C>G
c.2226+784C>G (n.2226+784C>G)
n.421+784C>G
c.566C>G (p.Ala189Gly)
c.3689C>G (p.Ala1230Gly)
c.3665C>G (p.Ala1222Gly)
c.3635C>G (p.Ala1212Gly)
c.3617C>G (p.Ala1206Gly)
c.3563C>G (p.Ala1188Gly)
c.3482C>G (p.Ala1161Gly)
c.3425C>G (p.Ala1142Gly)
c.1511C>G (p.Ala504Gly)
c.689C>G (p.Ala230Gly)
n.3704C>G
c.3731C>G (p.Ala1244Gly)
c.3659C>G (p.Ala1220Gly)
c.3521C>G (p.Ala1174Gly)
c.1607C>G (p.Ala536Gly)
16g.2111556G=CA2202047673PKD1c.3611C= (p.Ala1204=)
n.310+784C=
n.430+784C=
n.561C=
c.233+260C=
n.790+784C=
c.473-3198C=
n.773+784C=
c.2226+784C= (n.2226+784C=)
n.421+784C=
c.566C= (p.Ala189=)
c.3689C= (p.Ala1230=)
c.3665C= (p.Ala1222=)
c.3635C= (p.Ala1212=)
c.3617C= (p.Ala1206=)
c.3563C= (p.Ala1188=)
c.3482C= (p.Ala1161=)
c.3425C= (p.Ala1142=)
c.1511C= (p.Ala504=)
c.689C= (p.Ala230=)
n.3704C=
c.3731C= (p.Ala1244=)
c.3659C= (p.Ala1220=)
c.3521C= (p.Ala1174=)
c.1607C= (p.Ala536=)
16g.2111556G>TCA7832706PKD1c.3611C>A (p.Ala1204Glu)
n.310+784C>A
n.430+784C>A
n.561C>A
c.233+260C>A
n.790+784C>A
c.473-3198C>A
n.773+784C>A
c.2226+784C>A (n.2226+784C>A)
n.421+784C>A
c.566C>A (p.Ala189Glu)
c.3689C>A (p.Ala1230Glu)
c.3665C>A (p.Ala1222Glu)
c.3635C>A (p.Ala1212Glu)
c.3617C>A (p.Ala1206Glu)
c.3563C>A (p.Ala1188Glu)
c.3482C>A (p.Ala1161Glu)
c.3425C>A (p.Ala1142Glu)
c.1511C>A (p.Ala504Glu)
c.689C>A (p.Ala230Glu)
n.3704C>A
c.3731C>A (p.Ala1244Glu)
c.3659C>A (p.Ala1220Glu)
c.3521C>A (p.Ala1174Glu)
c.1607C>A (p.Ala536Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111557C>ACA394382759PKD1c.3610G>T (p.Ala1204Ser)
n.310+783G>T
n.430+783G>T
n.560G>T
c.233+259G>T
n.790+783G>T
c.473-3199G>T
n.773+783G>T
c.2226+783G>T (n.2226+783G>T)
n.421+783G>T
c.565G>T (p.Ala189Ser)
c.3688G>T (p.Ala1230Ser)
c.3664G>T (p.Ala1222Ser)
c.3634G>T (p.Ala1212Ser)
c.3616G>T (p.Ala1206Ser)
c.3562G>T (p.Ala1188Ser)
c.3481G>T (p.Ala1161Ser)
c.3424G>T (p.Ala1142Ser)
c.1510G>T (p.Ala504Ser)
c.688G>T (p.Ala230Ser)
n.3703G>T
c.3730G>T (p.Ala1244Ser)
c.3658G>T (p.Ala1220Ser)
c.3520G>T (p.Ala1174Ser)
c.1606G>T (p.Ala536Ser)
16g.2111557C>GCA394382760PKD1c.3610G>C (p.Ala1204Pro)
n.310+783G>C
n.430+783G>C
n.560G>C
c.233+259G>C
n.790+783G>C
c.473-3199G>C
n.773+783G>C
c.2226+783G>C (n.2226+783G>C)
n.421+783G>C
c.565G>C (p.Ala189Pro)
c.3688G>C (p.Ala1230Pro)
c.3664G>C (p.Ala1222Pro)
c.3634G>C (p.Ala1212Pro)
c.3616G>C (p.Ala1206Pro)
c.3562G>C (p.Ala1188Pro)
c.3481G>C (p.Ala1161Pro)
c.3424G>C (p.Ala1142Pro)
c.1510G>C (p.Ala504Pro)
c.688G>C (p.Ala230Pro)
n.3703G>C
c.3730G>C (p.Ala1244Pro)
c.3658G>C (p.Ala1220Pro)
c.3520G>C (p.Ala1174Pro)
c.1606G>C (p.Ala536Pro)
16g.2111557C>TCA394382761PKD1c.3610G>A (p.Ala1204Thr)
n.310+783G>A
n.430+783G>A
n.560G>A
c.233+259G>A
n.790+783G>A
c.473-3199G>A
n.773+783G>A
c.2226+783G>A (n.2226+783G>A)
n.421+783G>A
c.565G>A (p.Ala189Thr)
c.3688G>A (p.Ala1230Thr)
c.3664G>A (p.Ala1222Thr)
c.3634G>A (p.Ala1212Thr)
c.3616G>A (p.Ala1206Thr)
c.3562G>A (p.Ala1188Thr)
c.3481G>A (p.Ala1161Thr)
c.3424G>A (p.Ala1142Thr)
c.1510G>A (p.Ala504Thr)
c.688G>A (p.Ala230Thr)
n.3703G>A
c.3730G>A (p.Ala1244Thr)
c.3658G>A (p.Ala1220Thr)
c.3520G>A (p.Ala1174Thr)
c.1606G>A (p.Ala536Thr)
16g.2111558C>ACA394382762PKD1c.3609G>T (p.Gln1203His)
n.310+782G>T
n.430+782G>T
n.559G>T
c.233+258G>T
n.790+782G>T
c.473-3200G>T
n.773+782G>T
c.2226+782G>T (n.2226+782G>T)
n.421+782G>T
c.564G>T (p.Gln188His)
c.3687G>T (p.Gln1229His)
c.3663G>T (p.Gln1221His)
c.3633G>T (p.Gln1211His)
c.3615G>T (p.Gln1205His)
c.3561G>T (p.Gln1187His)
c.3480G>T (p.Gln1160His)
c.3423G>T (p.Gln1141His)
c.1509G>T (p.Gln503His)
c.687G>T (p.Gln229His)
n.3702G>T
c.3729G>T (p.Gln1243His)
c.3657G>T (p.Gln1219His)
c.3519G>T (p.Gln1173His)
c.1605G>T (p.Gln535His)
16g.2111558C=CA2202047674PKD1c.3609G= (p.Gln1203=)
n.310+782G=
n.430+782G=
n.559G=
c.233+258G=
n.790+782G=
c.473-3200G=
n.773+782G=
c.2226+782G= (n.2226+782G=)
n.421+782G=
c.564G= (p.Gln188=)
c.3687G= (p.Gln1229=)
c.3663G= (p.Gln1221=)
c.3633G= (p.Gln1211=)
c.3615G= (p.Gln1205=)
c.3561G= (p.Gln1187=)
c.3480G= (p.Gln1160=)
c.3423G= (p.Gln1141=)
c.1509G= (p.Gln503=)
c.687G= (p.Gln229=)
n.3702G=
c.3729G= (p.Gln1243=)
c.3657G= (p.Gln1219=)
c.3519G= (p.Gln1173=)
c.1605G= (p.Gln535=)
16g.2111558C>GCA394382763PKD1c.3609G>C (p.Gln1203His)
n.310+782G>C
n.430+782G>C
n.559G>C
c.233+258G>C
n.790+782G>C
c.473-3200G>C
n.773+782G>C
c.2226+782G>C (n.2226+782G>C)
n.421+782G>C
c.564G>C (p.Gln188His)
c.3687G>C (p.Gln1229His)
c.3663G>C (p.Gln1221His)
c.3633G>C (p.Gln1211His)
c.3615G>C (p.Gln1205His)
c.3561G>C (p.Gln1187His)
c.3480G>C (p.Gln1160His)
c.3423G>C (p.Gln1141His)
c.1509G>C (p.Gln503His)
c.687G>C (p.Gln229His)
n.3702G>C
c.3729G>C (p.Gln1243His)
c.3657G>C (p.Gln1219His)
c.3519G>C (p.Gln1173His)
c.1605G>C (p.Gln535His)
16g.2111558C>TCA7832707PKD1c.3609G>A (p.Gln1203=)
n.310+782G>A
n.430+782G>A
n.559G>A
c.233+258G>A
n.790+782G>A
c.473-3200G>A
n.773+782G>A
c.2226+782G>A (n.2226+782G>A)
n.421+782G>A
c.564G>A (p.Gln188=)
c.3687G>A (p.Gln1229=)
c.3663G>A (p.Gln1221=)
c.3633G>A (p.Gln1211=)
c.3615G>A (p.Gln1205=)
c.3561G>A (p.Gln1187=)
c.3480G>A (p.Gln1160=)
c.3423G>A (p.Gln1141=)
c.1509G>A (p.Gln503=)
c.687G>A (p.Gln229=)
n.3702G>A
c.3729G>A (p.Gln1243=)
c.3657G>A (p.Gln1219=)
c.3519G>A (p.Gln1173=)
c.1605G>A (p.Gln535=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111559T>ACA394382764PKD1c.3608A>T (p.Gln1203Leu)
n.310+781A>T
n.430+781A>T
n.558A>T
c.233+257A>T
n.790+781A>T
c.473-3201A>T
n.773+781A>T
c.2226+781A>T (n.2226+781A>T)
n.421+781A>T
c.563A>T (p.Gln188Leu)
c.3686A>T (p.Gln1229Leu)
c.3662A>T (p.Gln1221Leu)
c.3632A>T (p.Gln1211Leu)
c.3614A>T (p.Gln1205Leu)
c.3560A>T (p.Gln1187Leu)
c.3479A>T (p.Gln1160Leu)
c.3422A>T (p.Gln1141Leu)
c.1508A>T (p.Gln503Leu)
c.686A>T (p.Gln229Leu)
n.3701A>T
c.3728A>T (p.Gln1243Leu)
c.3656A>T (p.Gln1219Leu)
c.3518A>T (p.Gln1173Leu)
c.1604A>T (p.Gln535Leu)
16g.2111559T>CCA394382765PKD1c.3608A>G (p.Gln1203Arg)
n.310+781A>G
n.430+781A>G
n.558A>G
c.233+257A>G
n.790+781A>G
c.473-3201A>G
n.773+781A>G
c.2226+781A>G (n.2226+781A>G)
n.421+781A>G
c.563A>G (p.Gln188Arg)
c.3686A>G (p.Gln1229Arg)
c.3662A>G (p.Gln1221Arg)
c.3632A>G (p.Gln1211Arg)
c.3614A>G (p.Gln1205Arg)
c.3560A>G (p.Gln1187Arg)
c.3479A>G (p.Gln1160Arg)
c.3422A>G (p.Gln1141Arg)
c.1508A>G (p.Gln503Arg)
c.686A>G (p.Gln229Arg)
n.3701A>G
c.3728A>G (p.Gln1243Arg)
c.3656A>G (p.Gln1219Arg)
c.3518A>G (p.Gln1173Arg)
c.1604A>G (p.Gln535Arg)
16g.2111559T>GCA394382766PKD1c.3608A>C (p.Gln1203Pro)
n.310+781A>C
n.430+781A>C
n.558A>C
c.233+257A>C
n.790+781A>C
c.473-3201A>C
n.773+781A>C
c.2226+781A>C (n.2226+781A>C)
n.421+781A>C
c.563A>C (p.Gln188Pro)
c.3686A>C (p.Gln1229Pro)
c.3662A>C (p.Gln1221Pro)
c.3632A>C (p.Gln1211Pro)
c.3614A>C (p.Gln1205Pro)
c.3560A>C (p.Gln1187Pro)
c.3479A>C (p.Gln1160Pro)
c.3422A>C (p.Gln1141Pro)
c.1508A>C (p.Gln503Pro)
c.686A>C (p.Gln229Pro)
n.3701A>C
c.3728A>C (p.Gln1243Pro)
c.3656A>C (p.Gln1219Pro)
c.3518A>C (p.Gln1173Pro)
c.1604A>C (p.Gln535Pro)
16g.2111560G>ACA394382768PKD1c.3607C>T (p.Gln1203Ter)
n.310+780C>T
n.430+780C>T
n.557C>T
c.233+256C>T
n.790+780C>T
c.473-3202C>T
n.773+780C>T
c.2226+780C>T (n.2226+780C>T)
n.421+780C>T
c.562C>T (p.Gln188Ter)
c.3685C>T (p.Gln1229Ter)
c.3661C>T (p.Gln1221Ter)
c.3631C>T (p.Gln1211Ter)
c.3613C>T (p.Gln1205Ter)
c.3559C>T (p.Gln1187Ter)
c.3478C>T (p.Gln1160Ter)
c.3421C>T (p.Gln1141Ter)
c.1507C>T (p.Gln503Ter)
c.685C>T (p.Gln229Ter)
n.3700C>T
c.3727C>T (p.Gln1243Ter)
c.3655C>T (p.Gln1219Ter)
c.3517C>T (p.Gln1173Ter)
c.1603C>T (p.Gln535Ter)
 ClinVar dbSNP
16g.2111560G>CCA394382769PKD1c.3607C>G (p.Gln1203Glu)
n.310+780C>G
n.430+780C>G
n.557C>G
c.233+256C>G
n.790+780C>G
c.473-3202C>G
n.773+780C>G
c.2226+780C>G (n.2226+780C>G)
n.421+780C>G
c.562C>G (p.Gln188Glu)
c.3685C>G (p.Gln1229Glu)
c.3661C>G (p.Gln1221Glu)
c.3631C>G (p.Gln1211Glu)
c.3613C>G (p.Gln1205Glu)
c.3559C>G (p.Gln1187Glu)
c.3478C>G (p.Gln1160Glu)
c.3421C>G (p.Gln1141Glu)
c.1507C>G (p.Gln503Glu)
c.685C>G (p.Gln229Glu)
n.3700C>G
c.3727C>G (p.Gln1243Glu)
c.3655C>G (p.Gln1219Glu)
c.3517C>G (p.Gln1173Glu)
c.1603C>G (p.Gln535Glu)
16g.2111560G=CA2202047675PKD1c.3607C= (p.Gln1203=)
n.310+780C=
n.430+780C=
n.557C=
c.233+256C=
n.790+780C=
c.473-3202C=
n.773+780C=
c.2226+780C= (n.2226+780C=)
n.421+780C=
c.562C= (p.Gln188=)
c.3685C= (p.Gln1229=)
c.3661C= (p.Gln1221=)
c.3631C= (p.Gln1211=)
c.3613C= (p.Gln1205=)
c.3559C= (p.Gln1187=)
c.3478C= (p.Gln1160=)
c.3421C= (p.Gln1141=)
c.1507C= (p.Gln503=)
c.685C= (p.Gln229=)
n.3700C=
c.3727C= (p.Gln1243=)
c.3655C= (p.Gln1219=)
c.3517C= (p.Gln1173=)
c.1603C= (p.Gln535=)
16g.2111560G>TCA394382767PKD1c.3607C>A (p.Gln1203Lys)
n.310+780C>A
n.430+780C>A
n.557C>A
c.233+256C>A
n.790+780C>A
c.473-3202C>A
n.773+780C>A
c.2226+780C>A (n.2226+780C>A)
n.421+780C>A
c.562C>A (p.Gln188Lys)
c.3685C>A (p.Gln1229Lys)
c.3661C>A (p.Gln1221Lys)
c.3631C>A (p.Gln1211Lys)
c.3613C>A (p.Gln1205Lys)
c.3559C>A (p.Gln1187Lys)
c.3478C>A (p.Gln1160Lys)
c.3421C>A (p.Gln1141Lys)
c.1507C>A (p.Gln503Lys)
c.685C>A (p.Gln229Lys)
n.3700C>A
c.3727C>A (p.Gln1243Lys)
c.3655C>A (p.Gln1219Lys)
c.3517C>A (p.Gln1173Lys)
c.1603C>A (p.Gln535Lys)
 dbSNP gnomAD v4
16g.2111562delCA2739290728PKD1c.3607del (p.Gln1203ArgfsTer17)
n.310+780del
n.430+780del
n.557del
c.233+256del
n.790+780del
c.473-3202del
n.773+780del
c.2226+780del (n.2226+780del)
n.421+780del
c.562del (p.Gln188ArgfsTer17)
c.3685del (p.Gln1229ArgfsTer17)
c.3661del (p.Gln1221ArgfsTer17)
c.3631del (p.Gln1211ArgfsTer17)
c.3613del (p.Gln1205ArgfsTer17)
c.3559del (p.Gln1187ArgfsTer17)
c.3478del (p.Gln1160ArgfsTer17)
c.3421del (p.Gln1141ArgfsTer17)
c.1507del (p.Gln503ArgfsTer17)
c.685del (p.Gln229ArgfsTer17)
n.3700del
c.3727del (p.Gln1243ArgfsTer17)
c.3655del (p.Gln1219ArgfsTer17)
c.3517del (p.Gln1173ArgfsTer17)
c.1603del (p.Gln535ArgfsTer17)
16g.2111561G>ACA7832708PKD1c.3606C>T (p.Ala1202=)
n.310+779C>T
n.430+779C>T
n.556C>T
c.233+255C>T
n.790+779C>T
c.473-3203C>T
n.773+779C>T
c.2226+779C>T (n.2226+779C>T)
n.421+779C>T
c.561C>T (p.Ala187=)
c.3684C>T (p.Ala1228=)
c.3660C>T (p.Ala1220=)
c.3630C>T (p.Ala1210=)
c.3612C>T (p.Ala1204=)
c.3558C>T (p.Ala1186=)
c.3477C>T (p.Ala1159=)
c.3420C>T (p.Ala1140=)
c.1506C>T (p.Ala502=)
c.684C>T (p.Ala228=)
n.3699C>T
c.3726C>T (p.Ala1242=)
c.3654C>T (p.Ala1218=)
c.3516C>T (p.Ala1172=)
c.1602C>T (p.Ala534=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111561G>CCA493049231PKD1c.3606C>G (p.Ala1202=)
n.310+779C>G
n.430+779C>G
n.556C>G
c.233+255C>G
n.790+779C>G
c.473-3203C>G
n.773+779C>G
c.2226+779C>G (n.2226+779C>G)
n.421+779C>G
c.561C>G (p.Ala187=)
c.3684C>G (p.Ala1228=)
c.3660C>G (p.Ala1220=)
c.3630C>G (p.Ala1210=)
c.3612C>G (p.Ala1204=)
c.3558C>G (p.Ala1186=)
c.3477C>G (p.Ala1159=)
c.3420C>G (p.Ala1140=)
c.1506C>G (p.Ala502=)
c.684C>G (p.Ala228=)
n.3699C>G
c.3726C>G (p.Ala1242=)
c.3654C>G (p.Ala1218=)
c.3516C>G (p.Ala1172=)
c.1602C>G (p.Ala534=)
 gnomAD v4
16g.2111561G=CA2202047676PKD1c.3606C= (p.Ala1202=)
n.310+779C=
n.430+779C=
n.556C=
c.233+255C=
n.790+779C=
c.473-3203C=
n.773+779C=
c.2226+779C= (n.2226+779C=)
n.421+779C=
c.561C= (p.Ala187=)
c.3684C= (p.Ala1228=)
c.3660C= (p.Ala1220=)
c.3630C= (p.Ala1210=)
c.3612C= (p.Ala1204=)
c.3558C= (p.Ala1186=)
c.3477C= (p.Ala1159=)
c.3420C= (p.Ala1140=)
c.1506C= (p.Ala502=)
c.684C= (p.Ala228=)
n.3699C=
c.3726C= (p.Ala1242=)
c.3654C= (p.Ala1218=)
c.3516C= (p.Ala1172=)
c.1602C= (p.Ala534=)
16g.2111561G>TCA493049235PKD1c.3606C>A (p.Ala1202=)
n.310+779C>A
n.430+779C>A
n.556C>A
c.233+255C>A
n.790+779C>A
c.473-3203C>A
n.773+779C>A
c.2226+779C>A (n.2226+779C>A)
n.421+779C>A
c.561C>A (p.Ala187=)
c.3684C>A (p.Ala1228=)
c.3660C>A (p.Ala1220=)
c.3630C>A (p.Ala1210=)
c.3612C>A (p.Ala1204=)
c.3558C>A (p.Ala1186=)
c.3477C>A (p.Ala1159=)
c.3420C>A (p.Ala1140=)
c.1506C>A (p.Ala502=)
c.684C>A (p.Ala228=)
n.3699C>A
c.3726C>A (p.Ala1242=)
c.3654C>A (p.Ala1218=)
c.3516C>A (p.Ala1172=)
c.1602C>A (p.Ala534=)
16g.2111562G>ACA7832709PKD1c.3605C>T (p.Ala1202Val)
n.310+778C>T
n.430+778C>T
n.555C>T
c.233+254C>T
n.790+778C>T
c.473-3204C>T
n.773+778C>T
c.2226+778C>T (n.2226+778C>T)
n.421+778C>T
c.560C>T (p.Ala187Val)
c.3683C>T (p.Ala1228Val)
c.3659C>T (p.Ala1220Val)
c.3629C>T (p.Ala1210Val)
c.3611C>T (p.Ala1204Val)
c.3557C>T (p.Ala1186Val)
c.3476C>T (p.Ala1159Val)
c.3419C>T (p.Ala1140Val)
c.1505C>T (p.Ala502Val)
c.683C>T (p.Ala228Val)
n.3698C>T
c.3725C>T (p.Ala1242Val)
c.3653C>T (p.Ala1218Val)
c.3515C>T (p.Ala1172Val)
c.1601C>T (p.Ala534Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111562G>CCA394382770PKD1c.3605C>G (p.Ala1202Gly)
n.310+778C>G
n.430+778C>G
n.555C>G
c.233+254C>G
n.790+778C>G
c.473-3204C>G
n.773+778C>G
c.2226+778C>G (n.2226+778C>G)
n.421+778C>G
c.560C>G (p.Ala187Gly)
c.3683C>G (p.Ala1228Gly)
c.3659C>G (p.Ala1220Gly)
c.3629C>G (p.Ala1210Gly)
c.3611C>G (p.Ala1204Gly)
c.3557C>G (p.Ala1186Gly)
c.3476C>G (p.Ala1159Gly)
c.3419C>G (p.Ala1140Gly)
c.1505C>G (p.Ala502Gly)
c.683C>G (p.Ala228Gly)
n.3698C>G
c.3725C>G (p.Ala1242Gly)
c.3653C>G (p.Ala1218Gly)
c.3515C>G (p.Ala1172Gly)
c.1601C>G (p.Ala534Gly)
16g.2111562G=CA2202047677PKD1c.3605C= (p.Ala1202=)
n.310+778C=
n.430+778C=
n.555C=
c.233+254C=
n.790+778C=
c.473-3204C=
n.773+778C=
c.2226+778C= (n.2226+778C=)
n.421+778C=
c.560C= (p.Ala187=)
c.3683C= (p.Ala1228=)
c.3659C= (p.Ala1220=)
c.3629C= (p.Ala1210=)
c.3611C= (p.Ala1204=)
c.3557C= (p.Ala1186=)
c.3476C= (p.Ala1159=)
c.3419C= (p.Ala1140=)
c.1505C= (p.Ala502=)
c.683C= (p.Ala228=)
n.3698C=
c.3725C= (p.Ala1242=)
c.3653C= (p.Ala1218=)
c.3515C= (p.Ala1172=)
c.1601C= (p.Ala534=)
16g.2111562G>TCA394382771PKD1c.3605C>A (p.Ala1202Asp)
n.310+778C>A
n.430+778C>A
n.555C>A
c.233+254C>A
n.790+778C>A
c.473-3204C>A
n.773+778C>A
c.2226+778C>A (n.2226+778C>A)
n.421+778C>A
c.560C>A (p.Ala187Asp)
c.3683C>A (p.Ala1228Asp)
c.3659C>A (p.Ala1220Asp)
c.3629C>A (p.Ala1210Asp)
c.3611C>A (p.Ala1204Asp)
c.3557C>A (p.Ala1186Asp)
c.3476C>A (p.Ala1159Asp)
c.3419C>A (p.Ala1140Asp)
c.1505C>A (p.Ala502Asp)
c.683C>A (p.Ala228Asp)
n.3698C>A
c.3725C>A (p.Ala1242Asp)
c.3653C>A (p.Ala1218Asp)
c.3515C>A (p.Ala1172Asp)
c.1601C>A (p.Ala534Asp)
 gnomAD v4
16g.2111563C>ACA394382772PKD1c.3604G>T (p.Ala1202Ser)
n.310+777G>T
n.430+777G>T
n.554G>T
c.233+253G>T
n.790+777G>T
c.473-3205G>T
n.773+777G>T
c.2226+777G>T (n.2226+777G>T)
n.421+777G>T
c.559G>T (p.Ala187Ser)
c.3682G>T (p.Ala1228Ser)
c.3658G>T (p.Ala1220Ser)
c.3628G>T (p.Ala1210Ser)
c.3610G>T (p.Ala1204Ser)
c.3556G>T (p.Ala1186Ser)
c.3475G>T (p.Ala1159Ser)
c.3418G>T (p.Ala1140Ser)
c.1504G>T (p.Ala502Ser)
c.682G>T (p.Ala228Ser)
n.3697G>T
c.3724G>T (p.Ala1242Ser)
c.3652G>T (p.Ala1218Ser)
c.3514G>T (p.Ala1172Ser)
c.1600G>T (p.Ala534Ser)
 dbSNP gnomAD v3 gnomAD v4
16g.2111563C=CA2202047678PKD1c.3604G= (p.Ala1202=)
n.310+777G=
n.430+777G=
n.554G=
c.233+253G=
n.790+777G=
c.473-3205G=
n.773+777G=
c.2226+777G= (n.2226+777G=)
n.421+777G=
c.559G= (p.Ala187=)
c.3682G= (p.Ala1228=)
c.3658G= (p.Ala1220=)
c.3628G= (p.Ala1210=)
c.3610G= (p.Ala1204=)
c.3556G= (p.Ala1186=)
c.3475G= (p.Ala1159=)
c.3418G= (p.Ala1140=)
c.1504G= (p.Ala502=)
c.682G= (p.Ala228=)
n.3697G=
c.3724G= (p.Ala1242=)
c.3652G= (p.Ala1218=)
c.3514G= (p.Ala1172=)
c.1600G= (p.Ala534=)
16g.2111563C>GCA394382773PKD1c.3604G>C (p.Ala1202Pro)
n.310+777G>C
n.430+777G>C
n.554G>C
c.233+253G>C
n.790+777G>C
c.473-3205G>C
n.773+777G>C
c.2226+777G>C (n.2226+777G>C)
n.421+777G>C
c.559G>C (p.Ala187Pro)
c.3682G>C (p.Ala1228Pro)
c.3658G>C (p.Ala1220Pro)
c.3628G>C (p.Ala1210Pro)
c.3610G>C (p.Ala1204Pro)
c.3556G>C (p.Ala1186Pro)
c.3475G>C (p.Ala1159Pro)
c.3418G>C (p.Ala1140Pro)
c.1504G>C (p.Ala502Pro)
c.682G>C (p.Ala228Pro)
n.3697G>C
c.3724G>C (p.Ala1242Pro)
c.3652G>C (p.Ala1218Pro)
c.3514G>C (p.Ala1172Pro)
c.1600G>C (p.Ala534Pro)
16g.2111563C>TCA394382774PKD1c.3604G>A (p.Ala1202Thr)
n.310+777G>A
n.430+777G>A
n.554G>A
c.233+253G>A
n.790+777G>A
c.473-3205G>A
n.773+777G>A
c.2226+777G>A (n.2226+777G>A)
n.421+777G>A
c.559G>A (p.Ala187Thr)
c.3682G>A (p.Ala1228Thr)
c.3658G>A (p.Ala1220Thr)
c.3628G>A (p.Ala1210Thr)
c.3610G>A (p.Ala1204Thr)
c.3556G>A (p.Ala1186Thr)
c.3475G>A (p.Ala1159Thr)
c.3418G>A (p.Ala1140Thr)
c.1504G>A (p.Ala502Thr)
c.682G>A (p.Ala228Thr)
n.3697G>A
c.3724G>A (p.Ala1242Thr)
c.3652G>A (p.Ala1218Thr)
c.3514G>A (p.Ala1172Thr)
c.1600G>A (p.Ala534Thr)
 gnomAD v4
16g.2111564C>ACA493049244PKD1c.3603G>T (p.Ala1201=)
n.310+776G>T
n.430+776G>T
n.553G>T
c.233+252G>T
n.790+776G>T
c.473-3206G>T
n.773+776G>T
c.2226+776G>T (n.2226+776G>T)
n.421+776G>T
c.558G>T (p.Ala186=)
c.3681G>T (p.Ala1227=)
c.3657G>T (p.Ala1219=)
c.3627G>T (p.Ala1209=)
c.3609G>T (p.Ala1203=)
c.3555G>T (p.Ala1185=)
c.3474G>T (p.Ala1158=)
c.3417G>T (p.Ala1139=)
c.1503G>T (p.Ala501=)
c.681G>T (p.Ala227=)
n.3696G>T
c.3723G>T (p.Ala1241=)
c.3651G>T (p.Ala1217=)
c.3513G>T (p.Ala1171=)
c.1599G>T (p.Ala533=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2111564C=CA2202047679PKD1c.3603G= (p.Ala1201=)
n.310+776G=
n.430+776G=
n.553G=
c.233+252G=
n.790+776G=
c.473-3206G=
n.773+776G=
c.2226+776G= (n.2226+776G=)
n.421+776G=
c.558G= (p.Ala186=)
c.3681G= (p.Ala1227=)
c.3657G= (p.Ala1219=)
c.3627G= (p.Ala1209=)
c.3609G= (p.Ala1203=)
c.3555G= (p.Ala1185=)
c.3474G= (p.Ala1158=)
c.3417G= (p.Ala1139=)
c.1503G= (p.Ala501=)
c.681G= (p.Ala227=)
n.3696G=
c.3723G= (p.Ala1241=)
c.3651G= (p.Ala1217=)
c.3513G= (p.Ala1171=)
c.1599G= (p.Ala533=)
16g.2111564C>GCA493049246PKD1c.3603G>C (p.Ala1201=)
n.310+776G>C
n.430+776G>C
n.553G>C
c.233+252G>C
n.790+776G>C
c.473-3206G>C
n.773+776G>C
c.2226+776G>C (n.2226+776G>C)
n.421+776G>C
c.558G>C (p.Ala186=)
c.3681G>C (p.Ala1227=)
c.3657G>C (p.Ala1219=)
c.3627G>C (p.Ala1209=)
c.3609G>C (p.Ala1203=)
c.3555G>C (p.Ala1185=)
c.3474G>C (p.Ala1158=)
c.3417G>C (p.Ala1139=)
c.1503G>C (p.Ala501=)
c.681G>C (p.Ala227=)
n.3696G>C
c.3723G>C (p.Ala1241=)
c.3651G>C (p.Ala1217=)
c.3513G>C (p.Ala1171=)
c.1599G>C (p.Ala533=)
16g.2111564C>TCA276781900PKD1c.3603G>A (p.Ala1201=)
n.310+776G>A
n.430+776G>A
n.553G>A
c.233+252G>A
n.790+776G>A
c.473-3206G>A
n.773+776G>A
c.2226+776G>A (n.2226+776G>A)
n.421+776G>A
c.558G>A (p.Ala186=)
c.3681G>A (p.Ala1227=)
c.3657G>A (p.Ala1219=)
c.3627G>A (p.Ala1209=)
c.3609G>A (p.Ala1203=)
c.3555G>A (p.Ala1185=)
c.3474G>A (p.Ala1158=)
c.3417G>A (p.Ala1139=)
c.1503G>A (p.Ala501=)
c.681G>A (p.Ala227=)
n.3696G>A
c.3723G>A (p.Ala1241=)
c.3651G>A (p.Ala1217=)
c.3513G>A (p.Ala1171=)
c.1599G>A (p.Ala533=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2111565G>ACA7832710PKD1c.3602C>T (p.Ala1201Val)
n.310+775C>T
n.430+775C>T
n.552C>T
c.233+251C>T
n.790+775C>T
c.473-3207C>T
n.773+775C>T
c.2226+775C>T (n.2226+775C>T)
n.421+775C>T
c.557C>T (p.Ala186Val)
c.3680C>T (p.Ala1227Val)
c.3656C>T (p.Ala1219Val)
c.3626C>T (p.Ala1209Val)
c.3608C>T (p.Ala1203Val)
c.3554C>T (p.Ala1185Val)
c.3473C>T (p.Ala1158Val)
c.3416C>T (p.Ala1139Val)
c.1502C>T (p.Ala501Val)
c.680C>T (p.Ala227Val)
n.3695C>T
c.3722C>T (p.Ala1241Val)
c.3650C>T (p.Ala1217Val)
c.3512C>T (p.Ala1171Val)
c.1598C>T (p.Ala533Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111565G>CCA394382775PKD1c.3602C>G (p.Ala1201Gly)
n.310+775C>G
n.430+775C>G
n.552C>G
c.233+251C>G
n.790+775C>G
c.473-3207C>G
n.773+775C>G
c.2226+775C>G (n.2226+775C>G)
n.421+775C>G
c.557C>G (p.Ala186Gly)
c.3680C>G (p.Ala1227Gly)
c.3656C>G (p.Ala1219Gly)
c.3626C>G (p.Ala1209Gly)
c.3608C>G (p.Ala1203Gly)
c.3554C>G (p.Ala1185Gly)
c.3473C>G (p.Ala1158Gly)
c.3416C>G (p.Ala1139Gly)
c.1502C>G (p.Ala501Gly)
c.680C>G (p.Ala227Gly)
n.3695C>G
c.3722C>G (p.Ala1241Gly)
c.3650C>G (p.Ala1217Gly)
c.3512C>G (p.Ala1171Gly)
c.1598C>G (p.Ala533Gly)
 gnomAD v4
16g.2111565G=CA2202047680PKD1c.3602C= (p.Ala1201=)
n.310+775C=
n.430+775C=
n.552C=
c.233+251C=
n.790+775C=
c.473-3207C=
n.773+775C=
c.2226+775C= (n.2226+775C=)
n.421+775C=
c.557C= (p.Ala186=)
c.3680C= (p.Ala1227=)
c.3656C= (p.Ala1219=)
c.3626C= (p.Ala1209=)
c.3608C= (p.Ala1203=)
c.3554C= (p.Ala1185=)
c.3473C= (p.Ala1158=)
c.3416C= (p.Ala1139=)
c.1502C= (p.Ala501=)
c.680C= (p.Ala227=)
n.3695C=
c.3722C= (p.Ala1241=)
c.3650C= (p.Ala1217=)
c.3512C= (p.Ala1171=)
c.1598C= (p.Ala533=)
16g.2111565G>TCA394382776PKD1c.3602C>A (p.Ala1201Glu)
n.310+775C>A
n.430+775C>A
n.552C>A
c.233+251C>A
n.790+775C>A
c.473-3207C>A
n.773+775C>A
c.2226+775C>A (n.2226+775C>A)
n.421+775C>A
c.557C>A (p.Ala186Glu)
c.3680C>A (p.Ala1227Glu)
c.3656C>A (p.Ala1219Glu)
c.3626C>A (p.Ala1209Glu)
c.3608C>A (p.Ala1203Glu)
c.3554C>A (p.Ala1185Glu)
c.3473C>A (p.Ala1158Glu)
c.3416C>A (p.Ala1139Glu)
c.1502C>A (p.Ala501Glu)
c.680C>A (p.Ala227Glu)
n.3695C>A
c.3722C>A (p.Ala1241Glu)
c.3650C>A (p.Ala1217Glu)
c.3512C>A (p.Ala1171Glu)
c.1598C>A (p.Ala533Glu)
16g.2111565_2111566delinsGCCA2202047681PKD1c.3601_3602delinsGC (p.Ala1201=)
n.310+774_310+775delinsGC
n.430+774_430+775delinsGC
n.551_552delinsGC
c.233+250_233+251delinsGC
n.790+774_790+775delinsGC
c.473-3208_473-3207delinsGC
n.773+774_773+775delinsGC
c.2226+774_2226+775delinsGC (n.2226+774_2226+775delinsGC)
n.421+774_421+775delinsGC
c.556_557delinsGC (p.Ala186=)
c.3679_3680delinsGC (p.Ala1227=)
c.3655_3656delinsGC (p.Ala1219=)
c.3625_3626delinsGC (p.Ala1209=)
c.3607_3608delinsGC (p.Ala1203=)
c.3553_3554delinsGC (p.Ala1185=)
c.3472_3473delinsGC (p.Ala1158=)
c.3415_3416delinsGC (p.Ala1139=)
c.1501_1502delinsGC (p.Ala501=)
c.679_680delinsGC (p.Ala227=)
n.3694_3695delinsGC
c.3721_3722delinsGC (p.Ala1241=)
c.3649_3650delinsGC (p.Ala1217=)
c.3511_3512delinsGC (p.Ala1171=)
c.1597_1598delinsGC (p.Ala533=)
16g.2111566C>ACA394382777PKD1c.3601G>T (p.Ala1201Ser)
n.310+774G>T
n.430+774G>T
n.551G>T
c.233+250G>T
n.790+774G>T
c.473-3208G>T
n.773+774G>T
c.2226+774G>T (n.2226+774G>T)
n.421+774G>T
c.556G>T (p.Ala186Ser)
c.3679G>T (p.Ala1227Ser)
c.3655G>T (p.Ala1219Ser)
c.3625G>T (p.Ala1209Ser)
c.3607G>T (p.Ala1203Ser)
c.3553G>T (p.Ala1185Ser)
c.3472G>T (p.Ala1158Ser)
c.3415G>T (p.Ala1139Ser)
c.1501G>T (p.Ala501Ser)
c.679G>T (p.Ala227Ser)
n.3694G>T
c.3721G>T (p.Ala1241Ser)
c.3649G>T (p.Ala1217Ser)
c.3511G>T (p.Ala1171Ser)
c.1597G>T (p.Ala533Ser)
 gnomAD v4
16g.2111566C=CA2202047682PKD1c.3601G= (p.Ala1201=)
n.310+774G=
n.430+774G=
n.551G=
c.233+250G=
n.790+774G=
c.473-3208G=
n.773+774G=
c.2226+774G= (n.2226+774G=)
n.421+774G=
c.556G= (p.Ala186=)
c.3679G= (p.Ala1227=)
c.3655G= (p.Ala1219=)
c.3625G= (p.Ala1209=)
c.3607G= (p.Ala1203=)
c.3553G= (p.Ala1185=)
c.3472G= (p.Ala1158=)
c.3415G= (p.Ala1139=)
c.1501G= (p.Ala501=)
c.679G= (p.Ala227=)
n.3694G=
c.3721G= (p.Ala1241=)
c.3649G= (p.Ala1217=)
c.3511G= (p.Ala1171=)
c.1597G= (p.Ala533=)
16g.2111566C>GCA394382778PKD1c.3601G>C (p.Ala1201Pro)
n.310+774G>C
n.430+774G>C
n.551G>C
c.233+250G>C
n.790+774G>C
c.473-3208G>C
n.773+774G>C
c.2226+774G>C (n.2226+774G>C)
n.421+774G>C
c.556G>C (p.Ala186Pro)
c.3679G>C (p.Ala1227Pro)
c.3655G>C (p.Ala1219Pro)
c.3625G>C (p.Ala1209Pro)
c.3607G>C (p.Ala1203Pro)
c.3553G>C (p.Ala1185Pro)
c.3472G>C (p.Ala1158Pro)
c.3415G>C (p.Ala1139Pro)
c.1501G>C (p.Ala501Pro)
c.679G>C (p.Ala227Pro)
n.3694G>C
c.3721G>C (p.Ala1241Pro)
c.3649G>C (p.Ala1217Pro)
c.3511G>C (p.Ala1171Pro)
c.1597G>C (p.Ala533Pro)
16g.2111566C>TCA394382779PKD1c.3601G>A (p.Ala1201Thr)
n.310+774G>A
n.430+774G>A
n.551G>A
c.233+250G>A
n.790+774G>A
c.473-3208G>A
n.773+774G>A
c.2226+774G>A (n.2226+774G>A)
n.421+774G>A
c.556G>A (p.Ala186Thr)
c.3679G>A (p.Ala1227Thr)
c.3655G>A (p.Ala1219Thr)
c.3625G>A (p.Ala1209Thr)
c.3607G>A (p.Ala1203Thr)
c.3553G>A (p.Ala1185Thr)
c.3472G>A (p.Ala1158Thr)
c.3415G>A (p.Ala1139Thr)
c.1501G>A (p.Ala501Thr)
c.679G>A (p.Ala227Thr)
n.3694G>A
c.3721G>A (p.Ala1241Thr)
c.3649G>A (p.Ala1217Thr)
c.3511G>A (p.Ala1171Thr)
c.1597G>A (p.Ala533Thr)
 dbSNP gnomAD v4
16g.2111567delCA2202047683PKD1c.3601del (p.Ala1201ArgfsTer19)
n.310+774del
n.430+774del
n.551del
c.233+250del
n.790+774del
c.473-3208del
n.773+774del
c.2226+774del (n.2226+774del)
n.421+774del
c.556del (p.Ala186ArgfsTer19)
c.3679del (p.Ala1227ArgfsTer19)
c.3655del (p.Ala1219ArgfsTer19)
c.3625del (p.Ala1209ArgfsTer19)
c.3607del (p.Ala1203ArgfsTer19)
c.3553del (p.Ala1185ArgfsTer19)
c.3472del (p.Ala1158ArgfsTer19)
c.3415del (p.Ala1139ArgfsTer19)
c.1501del (p.Ala501ArgfsTer19)
c.679del (p.Ala227ArgfsTer19)
n.3694del
c.3721del (p.Ala1241ArgfsTer19)
c.3649del (p.Ala1217ArgfsTer19)
c.3511del (p.Ala1171ArgfsTer19)
c.1597del (p.Ala533ArgfsTer19)
 ClinVar dbSNP
16g.2111570_2111574dupCA2573151963PKD1c.3597_3601dup (p.Ala1201ValfsTer21)
n.310+770_310+774dup
n.430+770_430+774dup
n.547_551dup
c.233+246_233+250dup
n.790+770_790+774dup
c.473-3212_473-3208dup
n.773+770_773+774dup
c.2226+770_2226+774dup (n.2226+770_2226+774dup)
n.421+770_421+774dup
c.552_556dup (p.Ala186ValfsTer21)
c.3675_3679dup (p.Ala1227ValfsTer21)
c.3651_3655dup (p.Ala1219ValfsTer21)
c.3621_3625dup (p.Ala1209ValfsTer21)
c.3603_3607dup (p.Ala1203ValfsTer21)
c.3549_3553dup (p.Ala1185ValfsTer21)
c.3468_3472dup (p.Ala1158ValfsTer21)
c.3411_3415dup (p.Ala1139ValfsTer21)
c.1497_1501dup (p.Ala501ValfsTer21)
c.675_679dup (p.Ala227ValfsTer21)
n.3690_3694dup
c.3717_3721dup (p.Ala1241ValfsTer21)
c.3645_3649dup (p.Ala1217ValfsTer21)
c.3507_3511dup (p.Ala1171ValfsTer21)
c.1593_1597dup (p.Ala533ValfsTer21)
 ClinVar dbSNP
16g.2111570_2111574delCA2695222478PKD1c.3597_3601del (p.Ala1200GlyfsTer9)
n.310+770_310+774del
n.430+770_430+774del
n.547_551del
c.233+246_233+250del
n.790+770_790+774del
c.473-3212_473-3208del
n.773+770_773+774del
c.2226+770_2226+774del (n.2226+770_2226+774del)
n.421+770_421+774del
c.552_556del (p.Ala185GlyfsTer9)
c.3675_3679del (p.Ala1226GlyfsTer9)
c.3651_3655del (p.Ala1218GlyfsTer9)
c.3621_3625del (p.Ala1208GlyfsTer9)
c.3603_3607del (p.Ala1202GlyfsTer9)
c.3549_3553del (p.Ala1184GlyfsTer9)
c.3468_3472del (p.Ala1157GlyfsTer9)
c.3411_3415del (p.Ala1138GlyfsTer9)
c.1497_1501del (p.Ala500GlyfsTer9)
c.675_679del (p.Ala226GlyfsTer9)
n.3690_3694del
c.3717_3721del (p.Ala1240GlyfsTer9)
c.3645_3649del (p.Ala1216GlyfsTer9)
c.3507_3511del (p.Ala1170GlyfsTer9)
c.1593_1597del (p.Ala532GlyfsTer9)
16g.2111567C>ACA7832712PKD1c.3600G>T (p.Ala1200=)
n.310+773G>T
n.430+773G>T
n.550G>T
c.233+249G>T
n.790+773G>T
c.473-3209G>T
n.773+773G>T
c.2226+773G>T (n.2226+773G>T)
n.421+773G>T
c.555G>T (p.Ala185=)
c.3678G>T (p.Ala1226=)
c.3654G>T (p.Ala1218=)
c.3624G>T (p.Ala1208=)
c.3606G>T (p.Ala1202=)
c.3552G>T (p.Ala1184=)
c.3471G>T (p.Ala1157=)
c.3414G>T (p.Ala1138=)
c.1500G>T (p.Ala500=)
c.678G>T (p.Ala226=)
n.3693G>T
c.3720G>T (p.Ala1240=)
c.3648G>T (p.Ala1216=)
c.3510G>T (p.Ala1170=)
c.1596G>T (p.Ala532=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111567C=CA2202047684PKD1c.3600G= (p.Ala1200=)
n.310+773G=
n.430+773G=
n.550G=
c.233+249G=
n.790+773G=
c.473-3209G=
n.773+773G=
c.2226+773G= (n.2226+773G=)
n.421+773G=
c.555G= (p.Ala185=)
c.3678G= (p.Ala1226=)
c.3654G= (p.Ala1218=)
c.3624G= (p.Ala1208=)
c.3606G= (p.Ala1202=)
c.3552G= (p.Ala1184=)
c.3471G= (p.Ala1157=)
c.3414G= (p.Ala1138=)
c.1500G= (p.Ala500=)
c.678G= (p.Ala226=)
n.3693G=
c.3720G= (p.Ala1240=)
c.3648G= (p.Ala1216=)
c.3510G= (p.Ala1170=)
c.1596G= (p.Ala532=)
16g.2111567C>GCA493049254PKD1c.3600G>C (p.Ala1200=)
n.310+773G>C
n.430+773G>C
n.550G>C
c.233+249G>C
n.790+773G>C
c.473-3209G>C
n.773+773G>C
c.2226+773G>C (n.2226+773G>C)
n.421+773G>C
c.555G>C (p.Ala185=)
c.3678G>C (p.Ala1226=)
c.3654G>C (p.Ala1218=)
c.3624G>C (p.Ala1208=)
c.3606G>C (p.Ala1202=)
c.3552G>C (p.Ala1184=)
c.3471G>C (p.Ala1157=)
c.3414G>C (p.Ala1138=)
c.1500G>C (p.Ala500=)
c.678G>C (p.Ala226=)
n.3693G>C
c.3720G>C (p.Ala1240=)
c.3648G>C (p.Ala1216=)
c.3510G>C (p.Ala1170=)
c.1596G>C (p.Ala532=)
 gnomAD v4
16g.2111567C>TCA7832711PKD1c.3600G>A (p.Ala1200=)
n.310+773G>A
n.430+773G>A
n.550G>A
c.233+249G>A
n.790+773G>A
c.473-3209G>A
n.773+773G>A
c.2226+773G>A (n.2226+773G>A)
n.421+773G>A
c.555G>A (p.Ala185=)
c.3678G>A (p.Ala1226=)
c.3654G>A (p.Ala1218=)
c.3624G>A (p.Ala1208=)
c.3606G>A (p.Ala1202=)
c.3552G>A (p.Ala1184=)
c.3471G>A (p.Ala1157=)
c.3414G>A (p.Ala1138=)
c.1500G>A (p.Ala500=)
c.678G>A (p.Ala226=)
n.3693G>A
c.3720G>A (p.Ala1240=)
c.3648G>A (p.Ala1216=)
c.3510G>A (p.Ala1170=)
c.1596G>A (p.Ala532=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111568_2111574delCA2695222479PKD1c.3594_3600del (p.Ser1198ArgfsTer20)
n.310+767_310+773del
n.430+767_430+773del
n.544_550del
c.233+243_233+249del
n.790+767_790+773del
c.473-3215_473-3209del
n.773+767_773+773del
c.2226+767_2226+773del (n.2226+767_2226+773del)
n.421+767_421+773del
c.549_555del (p.Ser183ArgfsTer20)
c.3672_3678del (p.Ser1224ArgfsTer20)
c.3648_3654del (p.Ser1216ArgfsTer20)
c.3618_3624del (p.Ser1206ArgfsTer20)
c.3600_3606del (p.Ser1200ArgfsTer20)
c.3546_3552del (p.Ser1182ArgfsTer20)
c.3465_3471del (p.Ser1155ArgfsTer20)
c.3408_3414del (p.Ser1136ArgfsTer20)
c.1494_1500del (p.Ser498ArgfsTer20)
c.672_678del (p.Ser224ArgfsTer20)
n.3687_3693del
c.3714_3720del (p.Ser1238ArgfsTer20)
c.3642_3648del (p.Ser1214ArgfsTer20)
c.3504_3510del (p.Ser1168ArgfsTer20)
c.1590_1596del (p.Ser530ArgfsTer20)
16g.2111568G>ACA7832713PKD1c.3599C>T (p.Ala1200Val)
n.310+772C>T
n.430+772C>T
n.549C>T
c.233+248C>T
n.790+772C>T
c.473-3210C>T
n.773+772C>T
c.2226+772C>T (n.2226+772C>T)
n.421+772C>T
c.554C>T (p.Ala185Val)
c.3677C>T (p.Ala1226Val)
c.3653C>T (p.Ala1218Val)
c.3623C>T (p.Ala1208Val)
c.3605C>T (p.Ala1202Val)
c.3551C>T (p.Ala1184Val)
c.3470C>T (p.Ala1157Val)
c.3413C>T (p.Ala1138Val)
c.1499C>T (p.Ala500Val)
c.677C>T (p.Ala226Val)
n.3692C>T
c.3719C>T (p.Ala1240Val)
c.3647C>T (p.Ala1216Val)
c.3509C>T (p.Ala1170Val)
c.1595C>T (p.Ala532Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111568G>CCA394382780PKD1c.3599C>G (p.Ala1200Gly)
n.310+772C>G
n.430+772C>G
n.549C>G
c.233+248C>G
n.790+772C>G
c.473-3210C>G
n.773+772C>G
c.2226+772C>G (n.2226+772C>G)
n.421+772C>G
c.554C>G (p.Ala185Gly)
c.3677C>G (p.Ala1226Gly)
c.3653C>G (p.Ala1218Gly)
c.3623C>G (p.Ala1208Gly)
c.3605C>G (p.Ala1202Gly)
c.3551C>G (p.Ala1184Gly)
c.3470C>G (p.Ala1157Gly)
c.3413C>G (p.Ala1138Gly)
c.1499C>G (p.Ala500Gly)
c.677C>G (p.Ala226Gly)
n.3692C>G
c.3719C>G (p.Ala1240Gly)
c.3647C>G (p.Ala1216Gly)
c.3509C>G (p.Ala1170Gly)
c.1595C>G (p.Ala532Gly)
 ClinVar gnomAD v4
16g.2111568G=CA2202047685PKD1c.3599C= (p.Ala1200=)
n.310+772C=
n.430+772C=
n.549C=
c.233+248C=
n.790+772C=
c.473-3210C=
n.773+772C=
c.2226+772C= (n.2226+772C=)
n.421+772C=
c.554C= (p.Ala185=)
c.3677C= (p.Ala1226=)
c.3653C= (p.Ala1218=)
c.3623C= (p.Ala1208=)
c.3605C= (p.Ala1202=)
c.3551C= (p.Ala1184=)
c.3470C= (p.Ala1157=)
c.3413C= (p.Ala1138=)
c.1499C= (p.Ala500=)
c.677C= (p.Ala226=)
n.3692C=
c.3719C= (p.Ala1240=)
c.3647C= (p.Ala1216=)
c.3509C= (p.Ala1170=)
c.1595C= (p.Ala532=)
16g.2111568G>TCA394382781PKD1c.3599C>A (p.Ala1200Glu)
n.310+772C>A
n.430+772C>A
n.549C>A
c.233+248C>A
n.790+772C>A
c.473-3210C>A
n.773+772C>A
c.2226+772C>A (n.2226+772C>A)
n.421+772C>A
c.554C>A (p.Ala185Glu)
c.3677C>A (p.Ala1226Glu)
c.3653C>A (p.Ala1218Glu)
c.3623C>A (p.Ala1208Glu)
c.3605C>A (p.Ala1202Glu)
c.3551C>A (p.Ala1184Glu)
c.3470C>A (p.Ala1157Glu)
c.3413C>A (p.Ala1138Glu)
c.1499C>A (p.Ala500Glu)
c.677C>A (p.Ala226Glu)
n.3692C>A
c.3719C>A (p.Ala1240Glu)
c.3647C>A (p.Ala1216Glu)
c.3509C>A (p.Ala1170Glu)
c.1595C>A (p.Ala532Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2111569C>ACA394382782PKD1c.3598G>T (p.Ala1200Ser)
n.310+771G>T
n.430+771G>T
n.548G>T
c.233+247G>T
n.790+771G>T
c.473-3211G>T
n.773+771G>T
c.2226+771G>T (n.2226+771G>T)
n.421+771G>T
c.553G>T (p.Ala185Ser)
c.3676G>T (p.Ala1226Ser)
c.3652G>T (p.Ala1218Ser)
c.3622G>T (p.Ala1208Ser)
c.3604G>T (p.Ala1202Ser)
c.3550G>T (p.Ala1184Ser)
c.3469G>T (p.Ala1157Ser)
c.3412G>T (p.Ala1138Ser)
c.1498G>T (p.Ala500Ser)
c.676G>T (p.Ala226Ser)
n.3691G>T
c.3718G>T (p.Ala1240Ser)
c.3646G>T (p.Ala1216Ser)
c.3508G>T (p.Ala1170Ser)
c.1594G>T (p.Ala532Ser)
16g.2111569C>GCA394382783PKD1c.3598G>C (p.Ala1200Pro)
n.310+771G>C
n.430+771G>C
n.548G>C
c.233+247G>C
n.790+771G>C
c.473-3211G>C
n.773+771G>C
c.2226+771G>C (n.2226+771G>C)
n.421+771G>C
c.553G>C (p.Ala185Pro)
c.3676G>C (p.Ala1226Pro)
c.3652G>C (p.Ala1218Pro)
c.3622G>C (p.Ala1208Pro)
c.3604G>C (p.Ala1202Pro)
c.3550G>C (p.Ala1184Pro)
c.3469G>C (p.Ala1157Pro)
c.3412G>C (p.Ala1138Pro)
c.1498G>C (p.Ala500Pro)
c.676G>C (p.Ala226Pro)
n.3691G>C
c.3718G>C (p.Ala1240Pro)
c.3646G>C (p.Ala1216Pro)
c.3508G>C (p.Ala1170Pro)
c.1594G>C (p.Ala532Pro)
16g.2111569C>TCA394382784PKD1c.3598G>A (p.Ala1200Thr)
n.310+771G>A
n.430+771G>A
n.548G>A
c.233+247G>A
n.790+771G>A
c.473-3211G>A
n.773+771G>A
c.2226+771G>A (n.2226+771G>A)
n.421+771G>A
c.553G>A (p.Ala185Thr)
c.3676G>A (p.Ala1226Thr)
c.3652G>A (p.Ala1218Thr)
c.3622G>A (p.Ala1208Thr)
c.3604G>A (p.Ala1202Thr)
c.3550G>A (p.Ala1184Thr)
c.3469G>A (p.Ala1157Thr)
c.3412G>A (p.Ala1138Thr)
c.1498G>A (p.Ala500Thr)
c.676G>A (p.Ala226Thr)
n.3691G>A
c.3718G>A (p.Ala1240Thr)
c.3646G>A (p.Ala1216Thr)
c.3508G>A (p.Ala1170Thr)
c.1594G>A (p.Ala532Thr)
16g.2111570A>CCA493049257PKD1c.3597T>G (p.Gly1199=)
n.310+770T>G
n.430+770T>G
n.547T>G
c.233+246T>G
n.790+770T>G
c.473-3212T>G
n.773+770T>G
c.2226+770T>G (n.2226+770T>G)
n.421+770T>G
c.552T>G (p.Gly184=)
c.3675T>G (p.Gly1225=)
c.3651T>G (p.Gly1217=)
c.3621T>G (p.Gly1207=)
c.3603T>G (p.Gly1201=)
c.3549T>G (p.Gly1183=)
c.3468T>G (p.Gly1156=)
c.3411T>G (p.Gly1137=)
c.1497T>G (p.Gly499=)
c.675T>G (p.Gly225=)
n.3690T>G
c.3717T>G (p.Gly1239=)
c.3645T>G (p.Gly1215=)
c.3507T>G (p.Gly1169=)
c.1593T>G (p.Gly531=)
16g.2111570A>GCA493049258PKD1c.3597T>C (p.Gly1199=)
n.310+770T>C
n.430+770T>C
n.547T>C
c.233+246T>C
n.790+770T>C
c.473-3212T>C
n.773+770T>C
c.2226+770T>C (n.2226+770T>C)
n.421+770T>C
c.552T>C (p.Gly184=)
c.3675T>C (p.Gly1225=)
c.3651T>C (p.Gly1217=)
c.3621T>C (p.Gly1207=)
c.3603T>C (p.Gly1201=)
c.3549T>C (p.Gly1183=)
c.3468T>C (p.Gly1156=)
c.3411T>C (p.Gly1137=)
c.1497T>C (p.Gly499=)
c.675T>C (p.Gly225=)
n.3690T>C
c.3717T>C (p.Gly1239=)
c.3645T>C (p.Gly1215=)
c.3507T>C (p.Gly1169=)
c.1593T>C (p.Gly531=)
16g.2111570A>TCA493049259PKD1c.3597T>A (p.Gly1199=)
n.310+770T>A
n.430+770T>A
n.547T>A
c.233+246T>A
n.790+770T>A
c.473-3212T>A
n.773+770T>A
c.2226+770T>A (n.2226+770T>A)
n.421+770T>A
c.552T>A (p.Gly184=)
c.3675T>A (p.Gly1225=)
c.3651T>A (p.Gly1217=)
c.3621T>A (p.Gly1207=)
c.3603T>A (p.Gly1201=)
c.3549T>A (p.Gly1183=)
c.3468T>A (p.Gly1156=)
c.3411T>A (p.Gly1137=)
c.1497T>A (p.Gly499=)
c.675T>A (p.Gly225=)
n.3690T>A
c.3717T>A (p.Gly1239=)
c.3645T>A (p.Gly1215=)
c.3507T>A (p.Gly1169=)
c.1593T>A (p.Gly531=)
16g.2111571C>ACA394382785PKD1c.3596G>T (p.Gly1199Val)
n.310+769G>T
n.430+769G>T
n.546G>T
c.233+245G>T
n.790+769G>T
c.473-3213G>T
n.773+769G>T
c.2226+769G>T (n.2226+769G>T)
n.421+769G>T
c.551G>T (p.Gly184Val)
c.3674G>T (p.Gly1225Val)
c.3650G>T (p.Gly1217Val)
c.3620G>T (p.Gly1207Val)
c.3602G>T (p.Gly1201Val)
c.3548G>T (p.Gly1183Val)
c.3467G>T (p.Gly1156Val)
c.3410G>T (p.Gly1137Val)
c.1496G>T (p.Gly499Val)
c.674G>T (p.Gly225Val)
n.3689G>T
c.3716G>T (p.Gly1239Val)
c.3644G>T (p.Gly1215Val)
c.3506G>T (p.Gly1169Val)
c.1592G>T (p.Gly531Val)
 dbSNP gnomAD v2
16g.2111571C=CA2202047686PKD1c.3596G= (p.Gly1199=)
n.310+769G=
n.430+769G=
n.546G=
c.233+245G=
n.790+769G=
c.473-3213G=
n.773+769G=
c.2226+769G= (n.2226+769G=)
n.421+769G=
c.551G= (p.Gly184=)
c.3674G= (p.Gly1225=)
c.3650G= (p.Gly1217=)
c.3620G= (p.Gly1207=)
c.3602G= (p.Gly1201=)
c.3548G= (p.Gly1183=)
c.3467G= (p.Gly1156=)
c.3410G= (p.Gly1137=)
c.1496G= (p.Gly499=)
c.674G= (p.Gly225=)
n.3689G=
c.3716G= (p.Gly1239=)
c.3644G= (p.Gly1215=)
c.3506G= (p.Gly1169=)
c.1592G= (p.Gly531=)
16g.2111571C>GCA394382786PKD1c.3596G>C (p.Gly1199Ala)
n.310+769G>C
n.430+769G>C
n.546G>C
c.233+245G>C
n.790+769G>C
c.473-3213G>C
n.773+769G>C
c.2226+769G>C (n.2226+769G>C)
n.421+769G>C
c.551G>C (p.Gly184Ala)
c.3674G>C (p.Gly1225Ala)
c.3650G>C (p.Gly1217Ala)
c.3620G>C (p.Gly1207Ala)
c.3602G>C (p.Gly1201Ala)
c.3548G>C (p.Gly1183Ala)
c.3467G>C (p.Gly1156Ala)
c.3410G>C (p.Gly1137Ala)
c.1496G>C (p.Gly499Ala)
c.674G>C (p.Gly225Ala)
n.3689G>C
c.3716G>C (p.Gly1239Ala)
c.3644G>C (p.Gly1215Ala)
c.3506G>C (p.Gly1169Ala)
c.1592G>C (p.Gly531Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2111571C>TCA394382787PKD1c.3596G>A (p.Gly1199Asp)
n.310+769G>A
n.430+769G>A
n.546G>A
c.233+245G>A
n.790+769G>A
c.473-3213G>A
n.773+769G>A
c.2226+769G>A (n.2226+769G>A)
n.421+769G>A
c.551G>A (p.Gly184Asp)
c.3674G>A (p.Gly1225Asp)
c.3650G>A (p.Gly1217Asp)
c.3620G>A (p.Gly1207Asp)
c.3602G>A (p.Gly1201Asp)
c.3548G>A (p.Gly1183Asp)
c.3467G>A (p.Gly1156Asp)
c.3410G>A (p.Gly1137Asp)
c.1496G>A (p.Gly499Asp)
c.674G>A (p.Gly225Asp)
n.3689G>A
c.3716G>A (p.Gly1239Asp)
c.3644G>A (p.Gly1215Asp)
c.3506G>A (p.Gly1169Asp)
c.1592G>A (p.Gly531Asp)
 dbSNP gnomAD v2 gnomAD v4
16g.2111572C>ACA394382788PKD1c.3595G>T (p.Gly1199Cys)
n.310+768G>T
n.430+768G>T
n.545G>T
c.233+244G>T
n.790+768G>T
c.473-3214G>T
n.773+768G>T
c.2226+768G>T (n.2226+768G>T)
n.421+768G>T
c.550G>T (p.Gly184Cys)
c.3673G>T (p.Gly1225Cys)
c.3649G>T (p.Gly1217Cys)
c.3619G>T (p.Gly1207Cys)
c.3601G>T (p.Gly1201Cys)
c.3547G>T (p.Gly1183Cys)
c.3466G>T (p.Gly1156Cys)
c.3409G>T (p.Gly1137Cys)
c.1495G>T (p.Gly499Cys)
c.673G>T (p.Gly225Cys)
n.3688G>T
c.3715G>T (p.Gly1239Cys)
c.3643G>T (p.Gly1215Cys)
c.3505G>T (p.Gly1169Cys)
c.1591G>T (p.Gly531Cys)
 dbSNP gnomAD v4
16g.2111572C=CA2202047687PKD1c.3595G= (p.Gly1199=)
n.310+768G=
n.430+768G=
n.545G=
c.233+244G=
n.790+768G=
c.473-3214G=
n.773+768G=
c.2226+768G= (n.2226+768G=)
n.421+768G=
c.550G= (p.Gly184=)
c.3673G= (p.Gly1225=)
c.3649G= (p.Gly1217=)
c.3619G= (p.Gly1207=)
c.3601G= (p.Gly1201=)
c.3547G= (p.Gly1183=)
c.3466G= (p.Gly1156=)
c.3409G= (p.Gly1137=)
c.1495G= (p.Gly499=)
c.673G= (p.Gly225=)
n.3688G=
c.3715G= (p.Gly1239=)
c.3643G= (p.Gly1215=)
c.3505G= (p.Gly1169=)
c.1591G= (p.Gly531=)
16g.2111572C>GCA394382789PKD1c.3595G>C (p.Gly1199Arg)
n.310+768G>C
n.430+768G>C
n.545G>C
c.233+244G>C
n.790+768G>C
c.473-3214G>C
n.773+768G>C
c.2226+768G>C (n.2226+768G>C)
n.421+768G>C
c.550G>C (p.Gly184Arg)
c.3673G>C (p.Gly1225Arg)
c.3649G>C (p.Gly1217Arg)
c.3619G>C (p.Gly1207Arg)
c.3601G>C (p.Gly1201Arg)
c.3547G>C (p.Gly1183Arg)
c.3466G>C (p.Gly1156Arg)
c.3409G>C (p.Gly1137Arg)
c.1495G>C (p.Gly499Arg)
c.673G>C (p.Gly225Arg)
n.3688G>C
c.3715G>C (p.Gly1239Arg)
c.3643G>C (p.Gly1215Arg)
c.3505G>C (p.Gly1169Arg)
c.1591G>C (p.Gly531Arg)
 dbSNP gnomAD v2 gnomAD v4
16g.2111572C>TCA7832714PKD1c.3595G>A (p.Gly1199Ser)
n.310+768G>A
n.430+768G>A
n.545G>A
c.233+244G>A
n.790+768G>A
c.473-3214G>A
n.773+768G>A
c.2226+768G>A (n.2226+768G>A)
n.421+768G>A
c.550G>A (p.Gly184Ser)
c.3673G>A (p.Gly1225Ser)
c.3649G>A (p.Gly1217Ser)
c.3619G>A (p.Gly1207Ser)
c.3601G>A (p.Gly1201Ser)
c.3547G>A (p.Gly1183Ser)
c.3466G>A (p.Gly1156Ser)
c.3409G>A (p.Gly1137Ser)
c.1495G>A (p.Gly499Ser)
c.673G>A (p.Gly225Ser)
n.3688G>A
c.3715G>A (p.Gly1239Ser)
c.3643G>A (p.Gly1215Ser)
c.3505G>A (p.Gly1169Ser)
c.1591G>A (p.Gly531Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111573G>ACA7832715PKD1c.3594C>T (p.Ser1198=)
n.310+767C>T
n.430+767C>T
n.544C>T
c.233+243C>T
n.790+767C>T
c.473-3215C>T
n.773+767C>T
c.2226+767C>T (n.2226+767C>T)
n.421+767C>T
c.549C>T (p.Ser183=)
c.3672C>T (p.Ser1224=)
c.3648C>T (p.Ser1216=)
c.3618C>T (p.Ser1206=)
c.3600C>T (p.Ser1200=)
c.3546C>T (p.Ser1182=)
c.3465C>T (p.Ser1155=)
c.3408C>T (p.Ser1136=)
c.1494C>T (p.Ser498=)
c.672C>T (p.Ser224=)
n.3687C>T
c.3714C>T (p.Ser1238=)
c.3642C>T (p.Ser1214=)
c.3504C>T (p.Ser1168=)
c.1590C>T (p.Ser530=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111573G>CCA394382791PKD1c.3594C>G (p.Ser1198Arg)
n.310+767C>G
n.430+767C>G
n.544C>G
c.233+243C>G
n.790+767C>G
c.473-3215C>G
n.773+767C>G
c.2226+767C>G (n.2226+767C>G)
n.421+767C>G
c.549C>G (p.Ser183Arg)
c.3672C>G (p.Ser1224Arg)
c.3648C>G (p.Ser1216Arg)
c.3618C>G (p.Ser1206Arg)
c.3600C>G (p.Ser1200Arg)
c.3546C>G (p.Ser1182Arg)
c.3465C>G (p.Ser1155Arg)
c.3408C>G (p.Ser1136Arg)
c.1494C>G (p.Ser498Arg)
c.672C>G (p.Ser224Arg)
n.3687C>G
c.3714C>G (p.Ser1238Arg)
c.3642C>G (p.Ser1214Arg)
c.3504C>G (p.Ser1168Arg)
c.1590C>G (p.Ser530Arg)
 dbSNP gnomAD v2
16g.2111573G=CA2202047688PKD1c.3594C= (p.Ser1198=)
n.310+767C=
n.430+767C=
n.544C=
c.233+243C=
n.790+767C=
c.473-3215C=
n.773+767C=
c.2226+767C= (n.2226+767C=)
n.421+767C=
c.549C= (p.Ser183=)
c.3672C= (p.Ser1224=)
c.3648C= (p.Ser1216=)
c.3618C= (p.Ser1206=)
c.3600C= (p.Ser1200=)
c.3546C= (p.Ser1182=)
c.3465C= (p.Ser1155=)
c.3408C= (p.Ser1136=)
c.1494C= (p.Ser498=)
c.672C= (p.Ser224=)
n.3687C=
c.3714C= (p.Ser1238=)
c.3642C= (p.Ser1214=)
c.3504C= (p.Ser1168=)
c.1590C= (p.Ser530=)
16g.2111573G>TCA394382790PKD1c.3594C>A (p.Ser1198Arg)
n.310+767C>A
n.430+767C>A
n.544C>A
c.233+243C>A
n.790+767C>A
c.473-3215C>A
n.773+767C>A
c.2226+767C>A (n.2226+767C>A)
n.421+767C>A
c.549C>A (p.Ser183Arg)
c.3672C>A (p.Ser1224Arg)
c.3648C>A (p.Ser1216Arg)
c.3618C>A (p.Ser1206Arg)
c.3600C>A (p.Ser1200Arg)
c.3546C>A (p.Ser1182Arg)
c.3465C>A (p.Ser1155Arg)
c.3408C>A (p.Ser1136Arg)
c.1494C>A (p.Ser498Arg)
c.672C>A (p.Ser224Arg)
n.3687C>A
c.3714C>A (p.Ser1238Arg)
c.3642C>A (p.Ser1214Arg)
c.3504C>A (p.Ser1168Arg)
c.1590C>A (p.Ser530Arg)
 gnomAD v4
16g.2111574C>ACA394382792PKD1c.3593G>T (p.Ser1198Ile)
n.310+766G>T
n.430+766G>T
n.543G>T
c.233+242G>T
n.790+766G>T
c.473-3216G>T
n.773+766G>T
c.2226+766G>T (n.2226+766G>T)
n.421+766G>T
c.548G>T (p.Ser183Ile)
c.3671G>T (p.Ser1224Ile)
c.3647G>T (p.Ser1216Ile)
c.3617G>T (p.Ser1206Ile)
c.3599G>T (p.Ser1200Ile)
c.3545G>T (p.Ser1182Ile)
c.3464G>T (p.Ser1155Ile)
c.3407G>T (p.Ser1136Ile)
c.1493G>T (p.Ser498Ile)
c.671G>T (p.Ser224Ile)
n.3686G>T
c.3713G>T (p.Ser1238Ile)
c.3641G>T (p.Ser1214Ile)
c.3503G>T (p.Ser1168Ile)
c.1589G>T (p.Ser530Ile)
 gnomAD v4
16g.2111574C=CA2202047689PKD1c.3593G= (p.Ser1198=)
n.310+766G=
n.430+766G=
n.543G=
c.233+242G=
n.790+766G=
c.473-3216G=
n.773+766G=
c.2226+766G= (n.2226+766G=)
n.421+766G=
c.548G= (p.Ser183=)
c.3671G= (p.Ser1224=)
c.3647G= (p.Ser1216=)
c.3617G= (p.Ser1206=)
c.3599G= (p.Ser1200=)
c.3545G= (p.Ser1182=)
c.3464G= (p.Ser1155=)
c.3407G= (p.Ser1136=)
c.1493G= (p.Ser498=)
c.671G= (p.Ser224=)
n.3686G=
c.3713G= (p.Ser1238=)
c.3641G= (p.Ser1214=)
c.3503G= (p.Ser1168=)
c.1589G= (p.Ser530=)
16g.2111574C>GCA394382793PKD1c.3593G>C (p.Ser1198Thr)
n.310+766G>C
n.430+766G>C
n.543G>C
c.233+242G>C
n.790+766G>C
c.473-3216G>C
n.773+766G>C
c.2226+766G>C (n.2226+766G>C)
n.421+766G>C
c.548G>C (p.Ser183Thr)
c.3671G>C (p.Ser1224Thr)
c.3647G>C (p.Ser1216Thr)
c.3617G>C (p.Ser1206Thr)
c.3599G>C (p.Ser1200Thr)
c.3545G>C (p.Ser1182Thr)
c.3464G>C (p.Ser1155Thr)
c.3407G>C (p.Ser1136Thr)
c.1493G>C (p.Ser498Thr)
c.671G>C (p.Ser224Thr)
n.3686G>C
c.3713G>C (p.Ser1238Thr)
c.3641G>C (p.Ser1214Thr)
c.3503G>C (p.Ser1168Thr)
c.1589G>C (p.Ser530Thr)
16g.2111574C>TCA394382794PKD1c.3593G>A (p.Ser1198Asn)
n.310+766G>A
n.430+766G>A
n.543G>A
c.233+242G>A
n.790+766G>A
c.473-3216G>A
n.773+766G>A
c.2226+766G>A (n.2226+766G>A)
n.421+766G>A
c.548G>A (p.Ser183Asn)
c.3671G>A (p.Ser1224Asn)
c.3647G>A (p.Ser1216Asn)
c.3617G>A (p.Ser1206Asn)
c.3599G>A (p.Ser1200Asn)
c.3545G>A (p.Ser1182Asn)
c.3464G>A (p.Ser1155Asn)
c.3407G>A (p.Ser1136Asn)
c.1493G>A (p.Ser498Asn)
c.671G>A (p.Ser224Asn)
n.3686G>A
c.3713G>A (p.Ser1238Asn)
c.3641G>A (p.Ser1214Asn)
c.3503G>A (p.Ser1168Asn)
c.1589G>A (p.Ser530Asn)
 dbSNP gnomAD v4
16g.2111575T>ACA394382795PKD1c.3592A>T (p.Ser1198Cys)
n.310+765A>T
n.430+765A>T
n.542A>T
c.233+241A>T
n.790+765A>T
c.473-3217A>T
n.773+765A>T
c.2226+765A>T (n.2226+765A>T)
n.421+765A>T
c.547A>T (p.Ser183Cys)
c.3670A>T (p.Ser1224Cys)
c.3646A>T (p.Ser1216Cys)
c.3616A>T (p.Ser1206Cys)
c.3598A>T (p.Ser1200Cys)
c.3544A>T (p.Ser1182Cys)
c.3463A>T (p.Ser1155Cys)
c.3406A>T (p.Ser1136Cys)
c.1492A>T (p.Ser498Cys)
c.670A>T (p.Ser224Cys)
n.3685A>T
c.3712A>T (p.Ser1238Cys)
c.3640A>T (p.Ser1214Cys)
c.3502A>T (p.Ser1168Cys)
c.1588A>T (p.Ser530Cys)
16g.2111575T>CCA394382796PKD1c.3592A>G (p.Ser1198Gly)
n.310+765A>G
n.430+765A>G
n.542A>G
c.233+241A>G
n.790+765A>G
c.473-3217A>G
n.773+765A>G
c.2226+765A>G (n.2226+765A>G)
n.421+765A>G
c.547A>G (p.Ser183Gly)
c.3670A>G (p.Ser1224Gly)
c.3646A>G (p.Ser1216Gly)
c.3616A>G (p.Ser1206Gly)
c.3598A>G (p.Ser1200Gly)
c.3544A>G (p.Ser1182Gly)
c.3463A>G (p.Ser1155Gly)
c.3406A>G (p.Ser1136Gly)
c.1492A>G (p.Ser498Gly)
c.670A>G (p.Ser224Gly)
n.3685A>G
c.3712A>G (p.Ser1238Gly)
c.3640A>G (p.Ser1214Gly)
c.3502A>G (p.Ser1168Gly)
c.1588A>G (p.Ser530Gly)
16g.2111575T>GCA394382797PKD1c.3592A>C (p.Ser1198Arg)
n.310+765A>C
n.430+765A>C
n.542A>C
c.233+241A>C
n.790+765A>C
c.473-3217A>C
n.773+765A>C
c.2226+765A>C (n.2226+765A>C)
n.421+765A>C
c.547A>C (p.Ser183Arg)
c.3670A>C (p.Ser1224Arg)
c.3646A>C (p.Ser1216Arg)
c.3616A>C (p.Ser1206Arg)
c.3598A>C (p.Ser1200Arg)
c.3544A>C (p.Ser1182Arg)
c.3463A>C (p.Ser1155Arg)
c.3406A>C (p.Ser1136Arg)
c.1492A>C (p.Ser498Arg)
c.670A>C (p.Ser224Arg)
n.3685A>C
c.3712A>C (p.Ser1238Arg)
c.3640A>C (p.Ser1214Arg)
c.3502A>C (p.Ser1168Arg)
c.1588A>C (p.Ser530Arg)
16g.2111576C>ACA493049271PKD1c.3591G>T (p.Val1197=)
n.310+764G>T
n.430+764G>T
n.541G>T
c.233+240G>T
n.790+764G>T
c.473-3218G>T
n.773+764G>T
c.2226+764G>T (n.2226+764G>T)
n.421+764G>T
c.546G>T (p.Val182=)
c.3669G>T (p.Val1223=)
c.3645G>T (p.Val1215=)
c.3615G>T (p.Val1205=)
c.3597G>T (p.Val1199=)
c.3543G>T (p.Val1181=)
c.3462G>T (p.Val1154=)
c.3405G>T (p.Val1135=)
c.1491G>T (p.Val497=)
c.669G>T (p.Val223=)
n.3684G>T
c.3711G>T (p.Val1237=)
c.3639G>T (p.Val1213=)
c.3501G>T (p.Val1167=)
c.1587G>T (p.Val529=)
16g.2111576C>GCA493049269PKD1c.3591G>C (p.Val1197=)
n.310+764G>C
n.430+764G>C
n.541G>C
c.233+240G>C
n.790+764G>C
c.473-3218G>C
n.773+764G>C
c.2226+764G>C (n.2226+764G>C)
n.421+764G>C
c.546G>C (p.Val182=)
c.3669G>C (p.Val1223=)
c.3645G>C (p.Val1215=)
c.3615G>C (p.Val1205=)
c.3597G>C (p.Val1199=)
c.3543G>C (p.Val1181=)
c.3462G>C (p.Val1154=)
c.3405G>C (p.Val1135=)
c.1491G>C (p.Val497=)
c.669G>C (p.Val223=)
n.3684G>C
c.3711G>C (p.Val1237=)
c.3639G>C (p.Val1213=)
c.3501G>C (p.Val1167=)
c.1587G>C (p.Val529=)
16g.2111576C>TCA493049267PKD1c.3591G>A (p.Val1197=)
n.310+764G>A
n.430+764G>A
n.541G>A
c.233+240G>A
n.790+764G>A
c.473-3218G>A
n.773+764G>A
c.2226+764G>A (n.2226+764G>A)
n.421+764G>A
c.546G>A (p.Val182=)
c.3669G>A (p.Val1223=)
c.3645G>A (p.Val1215=)
c.3615G>A (p.Val1205=)
c.3597G>A (p.Val1199=)
c.3543G>A (p.Val1181=)
c.3462G>A (p.Val1154=)
c.3405G>A (p.Val1135=)
c.1491G>A (p.Val497=)
c.669G>A (p.Val223=)
n.3684G>A
c.3711G>A (p.Val1237=)
c.3639G>A (p.Val1213=)
c.3501G>A (p.Val1167=)
c.1587G>A (p.Val529=)
16g.2111577_2111578dupCA2695222480PKD1c.3590_3591dup (p.Ser1198Ter)
n.310+763_310+764dup
n.430+763_430+764dup
n.540_541dup
c.233+239_233+240dup
n.790+763_790+764dup
c.473-3219_473-3218dup
n.773+763_773+764dup
c.2226+763_2226+764dup (n.2226+763_2226+764dup)
n.421+763_421+764dup
c.545_546dup (p.Ser183Ter)
c.3668_3669dup (p.Ser1224Ter)
c.3644_3645dup (p.Ser1216Ter)
c.3614_3615dup (p.Ser1206Ter)
c.3596_3597dup (p.Ser1200Ter)
c.3542_3543dup (p.Ser1182Ter)
c.3461_3462dup (p.Ser1155Ter)
c.3404_3405dup (p.Ser1136Ter)
c.1490_1491dup (p.Ser498Ter)
c.668_669dup (p.Ser224Ter)
n.3683_3684dup
c.3710_3711dup (p.Ser1238Ter)
c.3638_3639dup (p.Ser1214Ter)
c.3500_3501dup (p.Ser1168Ter)
c.1586_1587dup (p.Ser530Ter)
16g.2111577A>CCA394382800PKD1c.3590T>G (p.Val1197Gly)
n.310+763T>G
n.430+763T>G
n.540T>G
c.233+239T>G
n.790+763T>G
c.473-3219T>G
n.773+763T>G
c.2226+763T>G (n.2226+763T>G)
n.421+763T>G
c.545T>G (p.Val182Gly)
c.3668T>G (p.Val1223Gly)
c.3644T>G (p.Val1215Gly)
c.3614T>G (p.Val1205Gly)
c.3596T>G (p.Val1199Gly)
c.3542T>G (p.Val1181Gly)
c.3461T>G (p.Val1154Gly)
c.3404T>G (p.Val1135Gly)
c.1490T>G (p.Val497Gly)
c.668T>G (p.Val223Gly)
n.3683T>G
c.3710T>G (p.Val1237Gly)
c.3638T>G (p.Val1213Gly)
c.3500T>G (p.Val1167Gly)
c.1586T>G (p.Val529Gly)
16g.2111577A>GCA394382798PKD1c.3590T>C (p.Val1197Ala)
n.310+763T>C
n.430+763T>C
n.540T>C
c.233+239T>C
n.790+763T>C
c.473-3219T>C
n.773+763T>C
c.2226+763T>C (n.2226+763T>C)
n.421+763T>C
c.545T>C (p.Val182Ala)
c.3668T>C (p.Val1223Ala)
c.3644T>C (p.Val1215Ala)
c.3614T>C (p.Val1205Ala)
c.3596T>C (p.Val1199Ala)
c.3542T>C (p.Val1181Ala)
c.3461T>C (p.Val1154Ala)
c.3404T>C (p.Val1135Ala)
c.1490T>C (p.Val497Ala)
c.668T>C (p.Val223Ala)
n.3683T>C
c.3710T>C (p.Val1237Ala)
c.3638T>C (p.Val1213Ala)
c.3500T>C (p.Val1167Ala)
c.1586T>C (p.Val529Ala)
16g.2111577A>TCA394382799PKD1c.3590T>A (p.Val1197Glu)
n.310+763T>A
n.430+763T>A
n.540T>A
c.233+239T>A
n.790+763T>A
c.473-3219T>A
n.773+763T>A
c.2226+763T>A (n.2226+763T>A)
n.421+763T>A
c.545T>A (p.Val182Glu)
c.3668T>A (p.Val1223Glu)
c.3644T>A (p.Val1215Glu)
c.3614T>A (p.Val1205Glu)
c.3596T>A (p.Val1199Glu)
c.3542T>A (p.Val1181Glu)
c.3461T>A (p.Val1154Glu)
c.3404T>A (p.Val1135Glu)
c.1490T>A (p.Val497Glu)
c.668T>A (p.Val223Glu)
n.3683T>A
c.3710T>A (p.Val1237Glu)
c.3638T>A (p.Val1213Glu)
c.3500T>A (p.Val1167Glu)
c.1586T>A (p.Val529Glu)
16g.2111578C>ACA394382801PKD1c.3589G>T (p.Val1197Leu)
n.310+762G>T
n.430+762G>T
n.539G>T
c.233+238G>T
n.790+762G>T
c.473-3220G>T
n.773+762G>T
c.2226+762G>T (n.2226+762G>T)
n.421+762G>T
c.544G>T (p.Val182Leu)
c.3667G>T (p.Val1223Leu)
c.3643G>T (p.Val1215Leu)
c.3613G>T (p.Val1205Leu)
c.3595G>T (p.Val1199Leu)
c.3541G>T (p.Val1181Leu)
c.3460G>T (p.Val1154Leu)
c.3403G>T (p.Val1135Leu)
c.1489G>T (p.Val497Leu)
c.667G>T (p.Val223Leu)
n.3682G>T
c.3709G>T (p.Val1237Leu)
c.3637G>T (p.Val1213Leu)
c.3499G>T (p.Val1167Leu)
c.1585G>T (p.Val529Leu)
 gnomAD v4
16g.2111578C>GCA394382802PKD1c.3589G>C (p.Val1197Leu)
n.310+762G>C
n.430+762G>C
n.539G>C
c.233+238G>C
n.790+762G>C
c.473-3220G>C
n.773+762G>C
c.2226+762G>C (n.2226+762G>C)
n.421+762G>C
c.544G>C (p.Val182Leu)
c.3667G>C (p.Val1223Leu)
c.3643G>C (p.Val1215Leu)
c.3613G>C (p.Val1205Leu)
c.3595G>C (p.Val1199Leu)
c.3541G>C (p.Val1181Leu)
c.3460G>C (p.Val1154Leu)
c.3403G>C (p.Val1135Leu)
c.1489G>C (p.Val497Leu)
c.667G>C (p.Val223Leu)
n.3682G>C
c.3709G>C (p.Val1237Leu)
c.3637G>C (p.Val1213Leu)
c.3499G>C (p.Val1167Leu)
c.1585G>C (p.Val529Leu)
16g.2111578C>TCA394382803PKD1c.3589G>A (p.Val1197Met)
n.310+762G>A
n.430+762G>A
n.539G>A
c.233+238G>A
n.790+762G>A
c.473-3220G>A
n.773+762G>A
c.2226+762G>A (n.2226+762G>A)
n.421+762G>A
c.544G>A (p.Val182Met)
c.3667G>A (p.Val1223Met)
c.3643G>A (p.Val1215Met)
c.3613G>A (p.Val1205Met)
c.3595G>A (p.Val1199Met)
c.3541G>A (p.Val1181Met)
c.3460G>A (p.Val1154Met)
c.3403G>A (p.Val1135Met)
c.1489G>A (p.Val497Met)
c.667G>A (p.Val223Met)
n.3682G>A
c.3709G>A (p.Val1237Met)
c.3637G>A (p.Val1213Met)
c.3499G>A (p.Val1167Met)
c.1585G>A (p.Val529Met)
 gnomAD v4
16g.2111579C>ACA7832716PKD1c.3588G>T (p.Thr1196=)
n.310+761G>T
n.430+761G>T
n.538G>T
c.233+237G>T
n.790+761G>T
c.473-3221G>T
n.773+761G>T
c.2226+761G>T (n.2226+761G>T)
n.421+761G>T
c.543G>T (p.Thr181=)
c.3666G>T (p.Thr1222=)
c.3642G>T (p.Thr1214=)
c.3612G>T (p.Thr1204=)
c.3594G>T (p.Thr1198=)
c.3540G>T (p.Thr1180=)
c.3459G>T (p.Thr1153=)
c.3402G>T (p.Thr1134=)
c.1488G>T (p.Thr496=)
c.666G>T (p.Thr222=)
n.3681G>T
c.3708G>T (p.Thr1236=)
c.3636G>T (p.Thr1212=)
c.3498G>T (p.Thr1166=)
c.1584G>T (p.Thr528=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111579C=CA2202047690PKD1c.3588G= (p.Thr1196=)
n.310+761G=
n.430+761G=
n.538G=
c.233+237G=
n.790+761G=
c.473-3221G=
n.773+761G=
c.2226+761G= (n.2226+761G=)
n.421+761G=
c.543G= (p.Thr181=)
c.3666G= (p.Thr1222=)
c.3642G= (p.Thr1214=)
c.3612G= (p.Thr1204=)
c.3594G= (p.Thr1198=)
c.3540G= (p.Thr1180=)
c.3459G= (p.Thr1153=)
c.3402G= (p.Thr1134=)
c.1488G= (p.Thr496=)
c.666G= (p.Thr222=)
n.3681G=
c.3708G= (p.Thr1236=)
c.3636G= (p.Thr1212=)
c.3498G= (p.Thr1166=)
c.1584G= (p.Thr528=)
16g.2111579C>GCA493049273PKD1c.3588G>C (p.Thr1196=)
n.310+761G>C
n.430+761G>C
n.538G>C
c.233+237G>C
n.790+761G>C
c.473-3221G>C
n.773+761G>C
c.2226+761G>C (n.2226+761G>C)
n.421+761G>C
c.543G>C (p.Thr181=)
c.3666G>C (p.Thr1222=)
c.3642G>C (p.Thr1214=)
c.3612G>C (p.Thr1204=)
c.3594G>C (p.Thr1198=)
c.3540G>C (p.Thr1180=)
c.3459G>C (p.Thr1153=)
c.3402G>C (p.Thr1134=)
c.1488G>C (p.Thr496=)
c.666G>C (p.Thr222=)
n.3681G>C
c.3708G>C (p.Thr1236=)
c.3636G>C (p.Thr1212=)
c.3498G>C (p.Thr1166=)
c.1584G>C (p.Thr528=)
 dbSNP
16g.2111579C>TCA7832717PKD1c.3588G>A (p.Thr1196=)
n.310+761G>A
n.430+761G>A
n.538G>A
c.233+237G>A
n.790+761G>A
c.473-3221G>A
n.773+761G>A
c.2226+761G>A (n.2226+761G>A)
n.421+761G>A
c.543G>A (p.Thr181=)
c.3666G>A (p.Thr1222=)
c.3642G>A (p.Thr1214=)
c.3612G>A (p.Thr1204=)
c.3594G>A (p.Thr1198=)
c.3540G>A (p.Thr1180=)
c.3459G>A (p.Thr1153=)
c.3402G>A (p.Thr1134=)
c.1488G>A (p.Thr496=)
c.666G>A (p.Thr222=)
n.3681G>A
c.3708G>A (p.Thr1236=)
c.3636G>A (p.Thr1212=)
c.3498G>A (p.Thr1166=)
c.1584G>A (p.Thr528=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111580G>ACA7832718PKD1c.3587C>T (p.Thr1196Met)
n.310+760C>T
n.430+760C>T
n.537C>T
c.233+236C>T
n.790+760C>T
c.473-3222C>T
n.773+760C>T
c.2226+760C>T (n.2226+760C>T)
n.421+760C>T
c.542C>T (p.Thr181Met)
c.3665C>T (p.Thr1222Met)
c.3641C>T (p.Thr1214Met)
c.3611C>T (p.Thr1204Met)
c.3593C>T (p.Thr1198Met)
c.3539C>T (p.Thr1180Met)
c.3458C>T (p.Thr1153Met)
c.3401C>T (p.Thr1134Met)
c.1487C>T (p.Thr496Met)
c.665C>T (p.Thr222Met)
n.3680C>T
c.3707C>T (p.Thr1236Met)
c.3635C>T (p.Thr1212Met)
c.3497C>T (p.Thr1166Met)
c.1583C>T (p.Thr528Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111580G>CCA394382804PKD1c.3587C>G (p.Thr1196Arg)
n.310+760C>G
n.430+760C>G
n.537C>G
c.233+236C>G
n.790+760C>G
c.473-3222C>G
n.773+760C>G
c.2226+760C>G (n.2226+760C>G)
n.421+760C>G
c.542C>G (p.Thr181Arg)
c.3665C>G (p.Thr1222Arg)
c.3641C>G (p.Thr1214Arg)
c.3611C>G (p.Thr1204Arg)
c.3593C>G (p.Thr1198Arg)
c.3539C>G (p.Thr1180Arg)
c.3458C>G (p.Thr1153Arg)
c.3401C>G (p.Thr1134Arg)
c.1487C>G (p.Thr496Arg)
c.665C>G (p.Thr222Arg)
n.3680C>G
c.3707C>G (p.Thr1236Arg)
c.3635C>G (p.Thr1212Arg)
c.3497C>G (p.Thr1166Arg)
c.1583C>G (p.Thr528Arg)
16g.2111580G=CA2202047691PKD1c.3587C= (p.Thr1196=)
n.310+760C=
n.430+760C=
n.537C=
c.233+236C=
n.790+760C=
c.473-3222C=
n.773+760C=
c.2226+760C= (n.2226+760C=)
n.421+760C=
c.542C= (p.Thr181=)
c.3665C= (p.Thr1222=)
c.3641C= (p.Thr1214=)
c.3611C= (p.Thr1204=)
c.3593C= (p.Thr1198=)
c.3539C= (p.Thr1180=)
c.3458C= (p.Thr1153=)
c.3401C= (p.Thr1134=)
c.1487C= (p.Thr496=)
c.665C= (p.Thr222=)
n.3680C=
c.3707C= (p.Thr1236=)
c.3635C= (p.Thr1212=)
c.3497C= (p.Thr1166=)
c.1583C= (p.Thr528=)
16g.2111580G>TCA394382805PKD1c.3587C>A (p.Thr1196Lys)
n.310+760C>A
n.430+760C>A
n.537C>A
c.233+236C>A
n.790+760C>A
c.473-3222C>A
n.773+760C>A
c.2226+760C>A (n.2226+760C>A)
n.421+760C>A
c.542C>A (p.Thr181Lys)
c.3665C>A (p.Thr1222Lys)
c.3641C>A (p.Thr1214Lys)
c.3611C>A (p.Thr1204Lys)
c.3593C>A (p.Thr1198Lys)
c.3539C>A (p.Thr1180Lys)
c.3458C>A (p.Thr1153Lys)
c.3401C>A (p.Thr1134Lys)
c.1487C>A (p.Thr496Lys)
c.665C>A (p.Thr222Lys)
n.3680C>A
c.3707C>A (p.Thr1236Lys)
c.3635C>A (p.Thr1212Lys)
c.3497C>A (p.Thr1166Lys)
c.1583C>A (p.Thr528Lys)
 gnomAD v4
16g.2111580_2111583delinsGTGTCA2202047692PKD1c.3584_3587delinsACAC (p.Asn1195=)
n.310+757_310+760delinsACAC
n.430+757_430+760delinsACAC
n.534_537delinsACAC
c.233+233_233+236delinsACAC
n.790+757_790+760delinsACAC
c.473-3225_473-3222delinsACAC
n.773+757_773+760delinsACAC
c.2226+757_2226+760delinsACAC (n.2226+757_2226+760delinsACAC)
n.421+757_421+760delinsACAC
c.539_542delinsACAC (p.Asn180=)
c.3662_3665delinsACAC (p.Asn1221=)
c.3638_3641delinsACAC (p.Asn1213=)
c.3608_3611delinsACAC (p.Asn1203=)
c.3590_3593delinsACAC (p.Asn1197=)
c.3536_3539delinsACAC (p.Asn1179=)
c.3455_3458delinsACAC (p.Asn1152=)
c.3398_3401delinsACAC (p.Asn1133=)
c.1484_1487delinsACAC (p.Asn495=)
c.662_665delinsACAC (p.Asn221=)
n.3677_3680delinsACAC
c.3704_3707delinsACAC (p.Asn1235=)
c.3632_3635delinsACAC (p.Asn1211=)
c.3494_3497delinsACAC (p.Asn1165=)
c.1580_1583delinsACAC (p.Asn527=)
16g.2111582_2111583delCA2740098074PKD1c.3586_3587del (p.Thr1196GlyfsTer14)
n.310+759_310+760del
n.430+759_430+760del
n.536_537del
c.233+235_233+236del
n.790+759_790+760del
c.473-3223_473-3222del
n.773+759_773+760del
c.2226+759_2226+760del (n.2226+759_2226+760del)
n.421+759_421+760del
c.541_542del (p.Thr181GlyfsTer14)
c.3664_3665del (p.Thr1222GlyfsTer14)
c.3640_3641del (p.Thr1214GlyfsTer14)
c.3610_3611del (p.Thr1204GlyfsTer14)
c.3592_3593del (p.Thr1198GlyfsTer14)
c.3538_3539del (p.Thr1180GlyfsTer14)
c.3457_3458del (p.Thr1153GlyfsTer14)
c.3400_3401del (p.Thr1134GlyfsTer14)
c.1486_1487del (p.Thr496GlyfsTer14)
c.664_665del (p.Thr222GlyfsTer14)
n.3679_3680del
c.3706_3707del (p.Thr1236GlyfsTer14)
c.3634_3635del (p.Thr1212GlyfsTer14)
c.3496_3497del (p.Thr1166GlyfsTer14)
c.1582_1583del (p.Thr528GlyfsTer14)
 ClinVar
16g.2111581T>ACA394382806PKD1c.3586A>T (p.Thr1196Ser)
n.310+759A>T
n.430+759A>T
n.536A>T
c.233+235A>T
n.790+759A>T
c.473-3223A>T
n.773+759A>T
c.2226+759A>T (n.2226+759A>T)
n.421+759A>T
c.541A>T (p.Thr181Ser)
c.3664A>T (p.Thr1222Ser)
c.3640A>T (p.Thr1214Ser)
c.3610A>T (p.Thr1204Ser)
c.3592A>T (p.Thr1198Ser)
c.3538A>T (p.Thr1180Ser)
c.3457A>T (p.Thr1153Ser)
c.3400A>T (p.Thr1134Ser)
c.1486A>T (p.Thr496Ser)
c.664A>T (p.Thr222Ser)
n.3679A>T
c.3706A>T (p.Thr1236Ser)
c.3634A>T (p.Thr1212Ser)
c.3496A>T (p.Thr1166Ser)
c.1582A>T (p.Thr528Ser)
16g.2111581T>CCA394382807PKD1c.3586A>G (p.Thr1196Ala)
n.310+759A>G
n.430+759A>G
n.536A>G
c.233+235A>G
n.790+759A>G
c.473-3223A>G
n.773+759A>G
c.2226+759A>G (n.2226+759A>G)
n.421+759A>G
c.541A>G (p.Thr181Ala)
c.3664A>G (p.Thr1222Ala)
c.3640A>G (p.Thr1214Ala)
c.3610A>G (p.Thr1204Ala)
c.3592A>G (p.Thr1198Ala)
c.3538A>G (p.Thr1180Ala)
c.3457A>G (p.Thr1153Ala)
c.3400A>G (p.Thr1134Ala)
c.1486A>G (p.Thr496Ala)
c.664A>G (p.Thr222Ala)
n.3679A>G
c.3706A>G (p.Thr1236Ala)
c.3634A>G (p.Thr1212Ala)
c.3496A>G (p.Thr1166Ala)
c.1582A>G (p.Thr528Ala)
16g.2111581T>GCA394382808PKD1c.3586A>C (p.Thr1196Pro)
n.310+759A>C
n.430+759A>C
n.536A>C
c.233+235A>C
n.790+759A>C
c.473-3223A>C
n.773+759A>C
c.2226+759A>C (n.2226+759A>C)
n.421+759A>C
c.541A>C (p.Thr181Pro)
c.3664A>C (p.Thr1222Pro)
c.3640A>C (p.Thr1214Pro)
c.3610A>C (p.Thr1204Pro)
c.3592A>C (p.Thr1198Pro)
c.3538A>C (p.Thr1180Pro)
c.3457A>C (p.Thr1153Pro)
c.3400A>C (p.Thr1134Pro)
c.1486A>C (p.Thr496Pro)
c.664A>C (p.Thr222Pro)
n.3679A>C
c.3706A>C (p.Thr1236Pro)
c.3634A>C (p.Thr1212Pro)
c.3496A>C (p.Thr1166Pro)
c.1582A>C (p.Thr528Pro)
16g.2111586_2111588delCA2202047693PKD1c.3584_3586del (p.Asn1195del)
n.310+757_310+759del
n.430+757_430+759del
n.534_536del
c.233+233_233+235del
n.790+757_790+759del
c.473-3225_473-3223del
n.773+757_773+759del
c.2226+757_2226+759del (n.2226+757_2226+759del)
n.421+757_421+759del
c.539_541del (p.Asn180del)
c.3662_3664del (p.Asn1221del)
c.3638_3640del (p.Asn1213del)
c.3608_3610del (p.Asn1203del)
c.3590_3592del (p.Asn1197del)
c.3536_3538del (p.Asn1179del)
c.3455_3457del (p.Asn1152del)
c.3398_3400del (p.Asn1133del)
c.1484_1486del (p.Asn495del)
c.662_664del (p.Asn221del)
n.3677_3679del
c.3704_3706del (p.Asn1235del)
c.3632_3634del (p.Asn1211del)
c.3494_3496del (p.Asn1165del)
c.1580_1582del (p.Asn527del)
 dbSNP
16g.2111582G>ACA493049276PKD1c.3585C>T (p.Asn1195=)
n.310+758C>T
n.430+758C>T
n.535C>T
c.233+234C>T
n.790+758C>T
c.473-3224C>T
n.773+758C>T
c.2226+758C>T (n.2226+758C>T)
n.421+758C>T
c.540C>T (p.Asn180=)
c.3663C>T (p.Asn1221=)
c.3639C>T (p.Asn1213=)
c.3609C>T (p.Asn1203=)
c.3591C>T (p.Asn1197=)
c.3537C>T (p.Asn1179=)
c.3456C>T (p.Asn1152=)
c.3399C>T (p.Asn1133=)
c.1485C>T (p.Asn495=)
c.663C>T (p.Asn221=)
n.3678C>T
c.3705C>T (p.Asn1235=)
c.3633C>T (p.Asn1211=)
c.3495C>T (p.Asn1165=)
c.1581C>T (p.Asn527=)
 gnomAD v4
16g.2111582G>CCA394382809PKD1c.3585C>G (p.Asn1195Lys)
n.310+758C>G
n.430+758C>G
n.535C>G
c.233+234C>G
n.790+758C>G
c.473-3224C>G
n.773+758C>G
c.2226+758C>G (n.2226+758C>G)
n.421+758C>G
c.540C>G (p.Asn180Lys)
c.3663C>G (p.Asn1221Lys)
c.3639C>G (p.Asn1213Lys)
c.3609C>G (p.Asn1203Lys)
c.3591C>G (p.Asn1197Lys)
c.3537C>G (p.Asn1179Lys)
c.3456C>G (p.Asn1152Lys)
c.3399C>G (p.Asn1133Lys)
c.1485C>G (p.Asn495Lys)
c.663C>G (p.Asn221Lys)
n.3678C>G
c.3705C>G (p.Asn1235Lys)
c.3633C>G (p.Asn1211Lys)
c.3495C>G (p.Asn1165Lys)
c.1581C>G (p.Asn527Lys)
16g.2111582G>TCA394382810PKD1c.3585C>A (p.Asn1195Lys)
n.310+758C>A
n.430+758C>A
n.535C>A
c.233+234C>A
n.790+758C>A
c.473-3224C>A
n.773+758C>A
c.2226+758C>A (n.2226+758C>A)
n.421+758C>A
c.540C>A (p.Asn180Lys)
c.3663C>A (p.Asn1221Lys)
c.3639C>A (p.Asn1213Lys)
c.3609C>A (p.Asn1203Lys)
c.3591C>A (p.Asn1197Lys)
c.3537C>A (p.Asn1179Lys)
c.3456C>A (p.Asn1152Lys)
c.3399C>A (p.Asn1133Lys)
c.1485C>A (p.Asn495Lys)
c.663C>A (p.Asn221Lys)
n.3678C>A
c.3705C>A (p.Asn1235Lys)
c.3633C>A (p.Asn1211Lys)
c.3495C>A (p.Asn1165Lys)
c.1581C>A (p.Asn527Lys)
16g.2111583T>ACA394382811PKD1c.3584A>T (p.Asn1195Ile)
n.310+757A>T
n.430+757A>T
n.534A>T
c.233+233A>T
n.790+757A>T
c.473-3225A>T
n.773+757A>T
c.2226+757A>T (n.2226+757A>T)
n.421+757A>T
c.539A>T (p.Asn180Ile)
c.3662A>T (p.Asn1221Ile)
c.3638A>T (p.Asn1213Ile)
c.3608A>T (p.Asn1203Ile)
c.3590A>T (p.Asn1197Ile)
c.3536A>T (p.Asn1179Ile)
c.3455A>T (p.Asn1152Ile)
c.3398A>T (p.Asn1133Ile)
c.1484A>T (p.Asn495Ile)
c.662A>T (p.Asn221Ile)
n.3677A>T
c.3704A>T (p.Asn1235Ile)
c.3632A>T (p.Asn1211Ile)
c.3494A>T (p.Asn1165Ile)
c.1580A>T (p.Asn527Ile)
16g.2111583T>CCA394382812PKD1c.3584A>G (p.Asn1195Ser)
n.310+757A>G
n.430+757A>G
n.534A>G
c.233+233A>G
n.790+757A>G
c.473-3225A>G
n.773+757A>G
c.2226+757A>G (n.2226+757A>G)
n.421+757A>G
c.539A>G (p.Asn180Ser)
c.3662A>G (p.Asn1221Ser)
c.3638A>G (p.Asn1213Ser)
c.3608A>G (p.Asn1203Ser)
c.3590A>G (p.Asn1197Ser)
c.3536A>G (p.Asn1179Ser)
c.3455A>G (p.Asn1152Ser)
c.3398A>G (p.Asn1133Ser)
c.1484A>G (p.Asn495Ser)
c.662A>G (p.Asn221Ser)
n.3677A>G
c.3704A>G (p.Asn1235Ser)
c.3632A>G (p.Asn1211Ser)
c.3494A>G (p.Asn1165Ser)
c.1580A>G (p.Asn527Ser)
16g.2111583T>GCA394382813PKD1c.3584A>C (p.Asn1195Thr)
n.310+757A>C
n.430+757A>C
n.534A>C
c.233+233A>C
n.790+757A>C
c.473-3225A>C
n.773+757A>C
c.2226+757A>C (n.2226+757A>C)
n.421+757A>C
c.539A>C (p.Asn180Thr)
c.3662A>C (p.Asn1221Thr)
c.3638A>C (p.Asn1213Thr)
c.3608A>C (p.Asn1203Thr)
c.3590A>C (p.Asn1197Thr)
c.3536A>C (p.Asn1179Thr)
c.3455A>C (p.Asn1152Thr)
c.3398A>C (p.Asn1133Thr)
c.1484A>C (p.Asn495Thr)
c.662A>C (p.Asn221Thr)
n.3677A>C
c.3704A>C (p.Asn1235Thr)
c.3632A>C (p.Asn1211Thr)
c.3494A>C (p.Asn1165Thr)
c.1580A>C (p.Asn527Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2111583T=CA2202047694PKD1c.3584A= (p.Asn1195=)
n.310+757A=
n.430+757A=
n.534A=
c.233+233A=
n.790+757A=
c.473-3225A=
n.773+757A=
c.2226+757A= (n.2226+757A=)
n.421+757A=
c.539A= (p.Asn180=)
c.3662A= (p.Asn1221=)
c.3638A= (p.Asn1213=)
c.3608A= (p.Asn1203=)
c.3590A= (p.Asn1197=)
c.3536A= (p.Asn1179=)
c.3455A= (p.Asn1152=)
c.3398A= (p.Asn1133=)
c.1484A= (p.Asn495=)
c.662A= (p.Asn221=)
n.3677A=
c.3704A= (p.Asn1235=)
c.3632A= (p.Asn1211=)
c.3494A= (p.Asn1165=)
c.1580A= (p.Asn527=)
16g.2111584T>ACA394382814PKD1c.3583A>T (p.Asn1195Tyr)
n.310+756A>T
n.430+756A>T
n.533A>T
c.233+232A>T
n.790+756A>T
c.473-3226A>T
n.773+756A>T
c.2226+756A>T (n.2226+756A>T)
n.421+756A>T
c.538A>T (p.Asn180Tyr)
c.3661A>T (p.Asn1221Tyr)
c.3637A>T (p.Asn1213Tyr)
c.3607A>T (p.Asn1203Tyr)
c.3589A>T (p.Asn1197Tyr)
c.3535A>T (p.Asn1179Tyr)
c.3454A>T (p.Asn1152Tyr)
c.3397A>T (p.Asn1133Tyr)
c.1483A>T (p.Asn495Tyr)
c.661A>T (p.Asn221Tyr)
n.3676A>T
c.3703A>T (p.Asn1235Tyr)
c.3631A>T (p.Asn1211Tyr)
c.3493A>T (p.Asn1165Tyr)
c.1579A>T (p.Asn527Tyr)
16g.2111584T>CCA7832719PKD1c.3583A>G (p.Asn1195Asp)
n.310+756A>G
n.430+756A>G
n.533A>G
c.233+232A>G
n.790+756A>G
c.473-3226A>G
n.773+756A>G
c.2226+756A>G (n.2226+756A>G)
n.421+756A>G
c.538A>G (p.Asn180Asp)
c.3661A>G (p.Asn1221Asp)
c.3637A>G (p.Asn1213Asp)
c.3607A>G (p.Asn1203Asp)
c.3589A>G (p.Asn1197Asp)
c.3535A>G (p.Asn1179Asp)
c.3454A>G (p.Asn1152Asp)
c.3397A>G (p.Asn1133Asp)
c.1483A>G (p.Asn495Asp)
c.661A>G (p.Asn221Asp)
n.3676A>G
c.3703A>G (p.Asn1235Asp)
c.3631A>G (p.Asn1211Asp)
c.3493A>G (p.Asn1165Asp)
c.1579A>G (p.Asn527Asp)
 dbSNP ExAC gnomAD v4
16g.2111584T>GCA394382815PKD1c.3583A>C (p.Asn1195His)
n.310+756A>C
n.430+756A>C
n.533A>C
c.233+232A>C
n.790+756A>C
c.473-3226A>C
n.773+756A>C
c.2226+756A>C (n.2226+756A>C)
n.421+756A>C
c.538A>C (p.Asn180His)
c.3661A>C (p.Asn1221His)
c.3637A>C (p.Asn1213His)
c.3607A>C (p.Asn1203His)
c.3589A>C (p.Asn1197His)
c.3535A>C (p.Asn1179His)
c.3454A>C (p.Asn1152His)
c.3397A>C (p.Asn1133His)
c.1483A>C (p.Asn495His)
c.661A>C (p.Asn221His)
n.3676A>C
c.3703A>C (p.Asn1235His)
c.3631A>C (p.Asn1211His)
c.3493A>C (p.Asn1165His)
c.1579A>C (p.Asn527His)
16g.2111584T=CA2202047695PKD1c.3583A= (p.Asn1195=)
n.310+756A=
n.430+756A=
n.533A=
c.233+232A=
n.790+756A=
c.473-3226A=
n.773+756A=
c.2226+756A= (n.2226+756A=)
n.421+756A=
c.538A= (p.Asn180=)
c.3661A= (p.Asn1221=)
c.3637A= (p.Asn1213=)
c.3607A= (p.Asn1203=)
c.3589A= (p.Asn1197=)
c.3535A= (p.Asn1179=)
c.3454A= (p.Asn1152=)
c.3397A= (p.Asn1133=)
c.1483A= (p.Asn495=)
c.661A= (p.Asn221=)
n.3676A=
c.3703A= (p.Asn1235=)
c.3631A= (p.Asn1211=)
c.3493A= (p.Asn1165=)
c.1579A= (p.Asn527=)
16g.2111585G>ACA493049281PKD1c.3582C>T (p.Asn1194=)
n.310+755C>T
n.430+755C>T
n.532C>T
c.233+231C>T
n.790+755C>T
c.473-3227C>T
n.773+755C>T
c.2226+755C>T (n.2226+755C>T)
n.421+755C>T
c.537C>T (p.Asn179=)
c.3660C>T (p.Asn1220=)
c.3636C>T (p.Asn1212=)
c.3606C>T (p.Asn1202=)
c.3588C>T (p.Asn1196=)
c.3534C>T (p.Asn1178=)
c.3453C>T (p.Asn1151=)
c.3396C>T (p.Asn1132=)
c.1482C>T (p.Asn494=)
c.660C>T (p.Asn220=)
n.3675C>T
c.3702C>T (p.Asn1234=)
c.3630C>T (p.Asn1210=)
c.3492C>T (p.Asn1164=)
c.1578C>T (p.Asn526=)
 gnomAD v4
16g.2111585G>CCA394382816PKD1c.3582C>G (p.Asn1194Lys)
n.310+755C>G
n.430+755C>G
n.532C>G
c.233+231C>G
n.790+755C>G
c.473-3227C>G
n.773+755C>G
c.2226+755C>G (n.2226+755C>G)
n.421+755C>G
c.537C>G (p.Asn179Lys)
c.3660C>G (p.Asn1220Lys)
c.3636C>G (p.Asn1212Lys)
c.3606C>G (p.Asn1202Lys)
c.3588C>G (p.Asn1196Lys)
c.3534C>G (p.Asn1178Lys)
c.3453C>G (p.Asn1151Lys)
c.3396C>G (p.Asn1132Lys)
c.1482C>G (p.Asn494Lys)
c.660C>G (p.Asn220Lys)
n.3675C>G
c.3702C>G (p.Asn1234Lys)
c.3630C>G (p.Asn1210Lys)
c.3492C>G (p.Asn1164Lys)
c.1578C>G (p.Asn526Lys)
16g.2111585G>TCA394382817PKD1c.3582C>A (p.Asn1194Lys)
n.310+755C>A
n.430+755C>A
n.532C>A
c.233+231C>A
n.790+755C>A
c.473-3227C>A
n.773+755C>A
c.2226+755C>A (n.2226+755C>A)
n.421+755C>A
c.537C>A (p.Asn179Lys)
c.3660C>A (p.Asn1220Lys)
c.3636C>A (p.Asn1212Lys)
c.3606C>A (p.Asn1202Lys)
c.3588C>A (p.Asn1196Lys)
c.3534C>A (p.Asn1178Lys)
c.3453C>A (p.Asn1151Lys)
c.3396C>A (p.Asn1132Lys)
c.1482C>A (p.Asn494Lys)
c.660C>A (p.Asn220Lys)
n.3675C>A
c.3702C>A (p.Asn1234Lys)
c.3630C>A (p.Asn1210Lys)
c.3492C>A (p.Asn1164Lys)
c.1578C>A (p.Asn526Lys)
 gnomAD v4
16g.2111586T>ACA7832720PKD1c.3581A>T (p.Asn1194Ile)
n.310+754A>T
n.430+754A>T
n.531A>T
c.233+230A>T
n.790+754A>T
c.473-3228A>T
n.773+754A>T
c.2226+754A>T (n.2226+754A>T)
n.421+754A>T
c.536A>T (p.Asn179Ile)
c.3659A>T (p.Asn1220Ile)
c.3635A>T (p.Asn1212Ile)
c.3605A>T (p.Asn1202Ile)
c.3587A>T (p.Asn1196Ile)
c.3533A>T (p.Asn1178Ile)
c.3452A>T (p.Asn1151Ile)
c.3395A>T (p.Asn1132Ile)
c.1481A>T (p.Asn494Ile)
c.659A>T (p.Asn220Ile)
n.3674A>T
c.3701A>T (p.Asn1234Ile)
c.3629A>T (p.Asn1210Ile)
c.3491A>T (p.Asn1164Ile)
c.1577A>T (p.Asn526Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111586T>CCA394382818PKD1c.3581A>G (p.Asn1194Ser)
n.310+754A>G
n.430+754A>G
n.531A>G
c.233+230A>G
n.790+754A>G
c.473-3228A>G
n.773+754A>G
c.2226+754A>G (n.2226+754A>G)
n.421+754A>G
c.536A>G (p.Asn179Ser)
c.3659A>G (p.Asn1220Ser)
c.3635A>G (p.Asn1212Ser)
c.3605A>G (p.Asn1202Ser)
c.3587A>G (p.Asn1196Ser)
c.3533A>G (p.Asn1178Ser)
c.3452A>G (p.Asn1151Ser)
c.3395A>G (p.Asn1132Ser)
c.1481A>G (p.Asn494Ser)
c.659A>G (p.Asn220Ser)
n.3674A>G
c.3701A>G (p.Asn1234Ser)
c.3629A>G (p.Asn1210Ser)
c.3491A>G (p.Asn1164Ser)
c.1577A>G (p.Asn526Ser)
 dbSNP gnomAD v3 gnomAD v4
16g.2111586T>GCA394382819PKD1c.3581A>C (p.Asn1194Thr)
n.310+754A>C
n.430+754A>C
n.531A>C
c.233+230A>C
n.790+754A>C
c.473-3228A>C
n.773+754A>C
c.2226+754A>C (n.2226+754A>C)
n.421+754A>C
c.536A>C (p.Asn179Thr)
c.3659A>C (p.Asn1220Thr)
c.3635A>C (p.Asn1212Thr)
c.3605A>C (p.Asn1202Thr)
c.3587A>C (p.Asn1196Thr)
c.3533A>C (p.Asn1178Thr)
c.3452A>C (p.Asn1151Thr)
c.3395A>C (p.Asn1132Thr)
c.1481A>C (p.Asn494Thr)
c.659A>C (p.Asn220Thr)
n.3674A>C
c.3701A>C (p.Asn1234Thr)
c.3629A>C (p.Asn1210Thr)
c.3491A>C (p.Asn1164Thr)
c.1577A>C (p.Asn526Thr)
16g.2111586T=CA2202047696PKD1c.3581A= (p.Asn1194=)
n.310+754A=
n.430+754A=
n.531A=
c.233+230A=
n.790+754A=
c.473-3228A=
n.773+754A=
c.2226+754A= (n.2226+754A=)
n.421+754A=
c.536A= (p.Asn179=)
c.3659A= (p.Asn1220=)
c.3635A= (p.Asn1212=)
c.3605A= (p.Asn1202=)
c.3587A= (p.Asn1196=)
c.3533A= (p.Asn1178=)
c.3452A= (p.Asn1151=)
c.3395A= (p.Asn1132=)
c.1481A= (p.Asn494=)
c.659A= (p.Asn220=)
n.3674A=
c.3701A= (p.Asn1234=)
c.3629A= (p.Asn1210=)
c.3491A= (p.Asn1164=)
c.1577A= (p.Asn526=)
16g.2111587T>ACA394382820PKD1c.3580A>T (p.Asn1194Tyr)
n.310+753A>T
n.430+753A>T
n.530A>T
c.233+229A>T
n.790+753A>T
c.473-3229A>T
n.773+753A>T
c.2226+753A>T (n.2226+753A>T)
n.421+753A>T
c.535A>T (p.Asn179Tyr)
c.3658A>T (p.Asn1220Tyr)
c.3634A>T (p.Asn1212Tyr)
c.3604A>T (p.Asn1202Tyr)
c.3586A>T (p.Asn1196Tyr)
c.3532A>T (p.Asn1178Tyr)
c.3451A>T (p.Asn1151Tyr)
c.3394A>T (p.Asn1132Tyr)
c.1480A>T (p.Asn494Tyr)
c.658A>T (p.Asn220Tyr)
n.3673A>T
c.3700A>T (p.Asn1234Tyr)
c.3628A>T (p.Asn1210Tyr)
c.3490A>T (p.Asn1164Tyr)
c.1576A>T (p.Asn526Tyr)
16g.2111587T>CCA7832721PKD1c.3580A>G (p.Asn1194Asp)
n.310+753A>G
n.430+753A>G
n.530A>G
c.233+229A>G
n.790+753A>G
c.473-3229A>G
n.773+753A>G
c.2226+753A>G (n.2226+753A>G)
n.421+753A>G
c.535A>G (p.Asn179Asp)
c.3658A>G (p.Asn1220Asp)
c.3634A>G (p.Asn1212Asp)
c.3604A>G (p.Asn1202Asp)
c.3586A>G (p.Asn1196Asp)
c.3532A>G (p.Asn1178Asp)
c.3451A>G (p.Asn1151Asp)
c.3394A>G (p.Asn1132Asp)
c.1480A>G (p.Asn494Asp)
c.658A>G (p.Asn220Asp)
n.3673A>G
c.3700A>G (p.Asn1234Asp)
c.3628A>G (p.Asn1210Asp)
c.3490A>G (p.Asn1164Asp)
c.1576A>G (p.Asn526Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111587T>GCA394382821PKD1c.3580A>C (p.Asn1194His)
n.310+753A>C
n.430+753A>C
n.530A>C
c.233+229A>C
n.790+753A>C
c.473-3229A>C
n.773+753A>C
c.2226+753A>C (n.2226+753A>C)
n.421+753A>C
c.535A>C (p.Asn179His)
c.3658A>C (p.Asn1220His)
c.3634A>C (p.Asn1212His)
c.3604A>C (p.Asn1202His)
c.3586A>C (p.Asn1196His)
c.3532A>C (p.Asn1178His)
c.3451A>C (p.Asn1151His)
c.3394A>C (p.Asn1132His)
c.1480A>C (p.Asn494His)
c.658A>C (p.Asn220His)
n.3673A>C
c.3700A>C (p.Asn1234His)
c.3628A>C (p.Asn1210His)
c.3490A>C (p.Asn1164His)
c.1576A>C (p.Asn526His)
16g.2111587T=CA2202047697PKD1c.3580A= (p.Asn1194=)
n.310+753A=
n.430+753A=
n.530A=
c.233+229A=
n.790+753A=
c.473-3229A=
n.773+753A=
c.2226+753A= (n.2226+753A=)
n.421+753A=
c.535A= (p.Asn179=)
c.3658A= (p.Asn1220=)
c.3634A= (p.Asn1212=)
c.3604A= (p.Asn1202=)
c.3586A= (p.Asn1196=)
c.3532A= (p.Asn1178=)
c.3451A= (p.Asn1151=)
c.3394A= (p.Asn1132=)
c.1480A= (p.Asn494=)
c.658A= (p.Asn220=)
n.3673A=
c.3700A= (p.Asn1234=)
c.3628A= (p.Asn1210=)
c.3490A= (p.Asn1164=)
c.1576A= (p.Asn526=)
16g.2111588G>ACA493049291PKD1c.3579C>T (p.Val1193=)
n.310+752C>T
n.430+752C>T
n.529C>T
c.233+228C>T
n.790+752C>T
c.473-3230C>T
n.773+752C>T
c.2226+752C>T (n.2226+752C>T)
n.421+752C>T
c.534C>T (p.Val178=)
c.3657C>T (p.Val1219=)
c.3633C>T (p.Val1211=)
c.3603C>T (p.Val1201=)
c.3585C>T (p.Val1195=)
c.3531C>T (p.Val1177=)
c.3450C>T (p.Val1150=)
c.3393C>T (p.Val1131=)
c.1479C>T (p.Val493=)
c.657C>T (p.Val219=)
n.3672C>T
c.3699C>T (p.Val1233=)
c.3627C>T (p.Val1209=)
c.3489C>T (p.Val1163=)
c.1575C>T (p.Val525=)
 gnomAD v4
16g.2111588G>CCA493049293PKD1c.3579C>G (p.Val1193=)
n.310+752C>G
n.430+752C>G
n.529C>G
c.233+228C>G
n.790+752C>G
c.473-3230C>G
n.773+752C>G
c.2226+752C>G (n.2226+752C>G)
n.421+752C>G
c.534C>G (p.Val178=)
c.3657C>G (p.Val1219=)
c.3633C>G (p.Val1211=)
c.3603C>G (p.Val1201=)
c.3585C>G (p.Val1195=)
c.3531C>G (p.Val1177=)
c.3450C>G (p.Val1150=)
c.3393C>G (p.Val1131=)
c.1479C>G (p.Val493=)
c.657C>G (p.Val219=)
n.3672C>G
c.3699C>G (p.Val1233=)
c.3627C>G (p.Val1209=)
c.3489C>G (p.Val1163=)
c.1575C>G (p.Val525=)
16g.2111588G>TCA493049295PKD1c.3579C>A (p.Val1193=)
n.310+752C>A
n.430+752C>A
n.529C>A
c.233+228C>A
n.790+752C>A
c.473-3230C>A
n.773+752C>A
c.2226+752C>A (n.2226+752C>A)
n.421+752C>A
c.534C>A (p.Val178=)
c.3657C>A (p.Val1219=)
c.3633C>A (p.Val1211=)
c.3603C>A (p.Val1201=)
c.3585C>A (p.Val1195=)
c.3531C>A (p.Val1177=)
c.3450C>A (p.Val1150=)
c.3393C>A (p.Val1131=)
c.1479C>A (p.Val493=)
c.657C>A (p.Val219=)
n.3672C>A
c.3699C>A (p.Val1233=)
c.3627C>A (p.Val1209=)
c.3489C>A (p.Val1163=)
c.1575C>A (p.Val525=)
 gnomAD v4
16g.2111589A>CCA394382822PKD1c.3578T>G (p.Val1193Gly)
n.310+751T>G
n.430+751T>G
n.528T>G
c.233+227T>G
n.790+751T>G
c.473-3231T>G
n.773+751T>G
c.2226+751T>G (n.2226+751T>G)
n.421+751T>G
c.533T>G (p.Val178Gly)
c.3656T>G (p.Val1219Gly)
c.3632T>G (p.Val1211Gly)
c.3602T>G (p.Val1201Gly)
c.3584T>G (p.Val1195Gly)
c.3530T>G (p.Val1177Gly)
c.3449T>G (p.Val1150Gly)
c.3392T>G (p.Val1131Gly)
c.1478T>G (p.Val493Gly)
c.656T>G (p.Val219Gly)
n.3671T>G
c.3698T>G (p.Val1233Gly)
c.3626T>G (p.Val1209Gly)
c.3488T>G (p.Val1163Gly)
c.1574T>G (p.Val525Gly)
 gnomAD v4
16g.2111589A>GCA394382823PKD1c.3578T>C (p.Val1193Ala)
n.310+751T>C
n.430+751T>C
n.528T>C
c.233+227T>C
n.790+751T>C
c.473-3231T>C
n.773+751T>C
c.2226+751T>C (n.2226+751T>C)
n.421+751T>C
c.533T>C (p.Val178Ala)
c.3656T>C (p.Val1219Ala)
c.3632T>C (p.Val1211Ala)
c.3602T>C (p.Val1201Ala)
c.3584T>C (p.Val1195Ala)
c.3530T>C (p.Val1177Ala)
c.3449T>C (p.Val1150Ala)
c.3392T>C (p.Val1131Ala)
c.1478T>C (p.Val493Ala)
c.656T>C (p.Val219Ala)
n.3671T>C
c.3698T>C (p.Val1233Ala)
c.3626T>C (p.Val1209Ala)
c.3488T>C (p.Val1163Ala)
c.1574T>C (p.Val525Ala)
16g.2111589A>TCA394382824PKD1c.3578T>A (p.Val1193Asp)
n.310+751T>A
n.430+751T>A
n.528T>A
c.233+227T>A
n.790+751T>A
c.473-3231T>A
n.773+751T>A
c.2226+751T>A (n.2226+751T>A)
n.421+751T>A
c.533T>A (p.Val178Asp)
c.3656T>A (p.Val1219Asp)
c.3632T>A (p.Val1211Asp)
c.3602T>A (p.Val1201Asp)
c.3584T>A (p.Val1195Asp)
c.3530T>A (p.Val1177Asp)
c.3449T>A (p.Val1150Asp)
c.3392T>A (p.Val1131Asp)
c.1478T>A (p.Val493Asp)
c.656T>A (p.Val219Asp)
n.3671T>A
c.3698T>A (p.Val1233Asp)
c.3626T>A (p.Val1209Asp)
c.3488T>A (p.Val1163Asp)
c.1574T>A (p.Val525Asp)
16g.2111590C>ACA394382826PKD1c.3577G>T (p.Val1193Phe)
n.310+750G>T
n.430+750G>T
n.527G>T
c.233+226G>T
n.790+750G>T
c.473-3232G>T
n.773+750G>T
c.2226+750G>T (n.2226+750G>T)
n.421+750G>T
c.532G>T (p.Val178Phe)
c.3655G>T (p.Val1219Phe)
c.3631G>T (p.Val1211Phe)
c.3601G>T (p.Val1201Phe)
c.3583G>T (p.Val1195Phe)
c.3529G>T (p.Val1177Phe)
c.3448G>T (p.Val1150Phe)
c.3391G>T (p.Val1131Phe)
c.1477G>T (p.Val493Phe)
c.655G>T (p.Val219Phe)
n.3670G>T
c.3697G>T (p.Val1233Phe)
c.3625G>T (p.Val1209Phe)
c.3487G>T (p.Val1163Phe)
c.1573G>T (p.Val525Phe)
 dbSNP
16g.2111590C=CA2202047698PKD1c.3577G= (p.Val1193=)
n.310+750G=
n.430+750G=
n.527G=
c.233+226G=
n.790+750G=
c.473-3232G=
n.773+750G=
c.2226+750G= (n.2226+750G=)
n.421+750G=
c.532G= (p.Val178=)
c.3655G= (p.Val1219=)
c.3631G= (p.Val1211=)
c.3601G= (p.Val1201=)
c.3583G= (p.Val1195=)
c.3529G= (p.Val1177=)
c.3448G= (p.Val1150=)
c.3391G= (p.Val1131=)
c.1477G= (p.Val493=)
c.655G= (p.Val219=)
n.3670G=
c.3697G= (p.Val1233=)
c.3625G= (p.Val1209=)
c.3487G= (p.Val1163=)
c.1573G= (p.Val525=)
16g.2111590C>GCA394382825PKD1c.3577G>C (p.Val1193Leu)
n.310+750G>C
n.430+750G>C
n.527G>C
c.233+226G>C
n.790+750G>C
c.473-3232G>C
n.773+750G>C
c.2226+750G>C (n.2226+750G>C)
n.421+750G>C
c.532G>C (p.Val178Leu)
c.3655G>C (p.Val1219Leu)
c.3631G>C (p.Val1211Leu)
c.3601G>C (p.Val1201Leu)
c.3583G>C (p.Val1195Leu)
c.3529G>C (p.Val1177Leu)
c.3448G>C (p.Val1150Leu)
c.3391G>C (p.Val1131Leu)
c.1477G>C (p.Val493Leu)
c.655G>C (p.Val219Leu)
n.3670G>C
c.3697G>C (p.Val1233Leu)
c.3625G>C (p.Val1209Leu)
c.3487G>C (p.Val1163Leu)
c.1573G>C (p.Val525Leu)
16g.2111590C>TCA7832722PKD1c.3577G>A (p.Val1193Ile)
n.310+750G>A
n.430+750G>A
n.527G>A
c.233+226G>A
n.790+750G>A
c.473-3232G>A
n.773+750G>A
c.2226+750G>A (n.2226+750G>A)
n.421+750G>A
c.532G>A (p.Val178Ile)
c.3655G>A (p.Val1219Ile)
c.3631G>A (p.Val1211Ile)
c.3601G>A (p.Val1201Ile)
c.3583G>A (p.Val1195Ile)
c.3529G>A (p.Val1177Ile)
c.3448G>A (p.Val1150Ile)
c.3391G>A (p.Val1131Ile)
c.1477G>A (p.Val493Ile)
c.655G>A (p.Val219Ile)
n.3670G>A
c.3697G>A (p.Val1233Ile)
c.3625G>A (p.Val1209Ile)
c.3487G>A (p.Val1163Ile)
c.1573G>A (p.Val525Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2111591delCA2695222481PKD1c.3577del (p.Val1193SerfsTer5)
n.310+750del
n.430+750del
n.527del
c.233+226del
n.790+750del
c.473-3232del
n.773+750del
c.2226+750del (n.2226+750del)
n.421+750del
c.532del (p.Val178SerfsTer5)
c.3655del (p.Val1219SerfsTer5)
c.3631del (p.Val1211SerfsTer5)
c.3601del (p.Val1201SerfsTer5)
c.3583del (p.Val1195SerfsTer5)
c.3529del (p.Val1177SerfsTer5)
c.3448del (p.Val1150SerfsTer5)
c.3391del (p.Val1131SerfsTer5)
c.1477del (p.Val493SerfsTer5)
c.655del (p.Val219SerfsTer5)
n.3670del
c.3697del (p.Val1233SerfsTer5)
c.3625del (p.Val1209SerfsTer5)
c.3487del (p.Val1163SerfsTer5)
c.1573del (p.Val525SerfsTer5)
16g.2111591C>ACA394382827PKD1c.3576G>T (p.Glu1192Asp)
n.310+749G>T
n.430+749G>T
n.526G>T
c.233+225G>T
n.790+749G>T
c.473-3233G>T
n.773+749G>T
c.2226+749G>T (n.2226+749G>T)
n.421+749G>T
c.531G>T (p.Glu177Asp)
c.3654G>T (p.Glu1218Asp)
c.3630G>T (p.Glu1210Asp)
c.3600G>T (p.Glu1200Asp)
c.3582G>T (p.Glu1194Asp)
c.3528G>T (p.Glu1176Asp)
c.3447G>T (p.Glu1149Asp)
c.3390G>T (p.Glu1130Asp)
c.1476G>T (p.Glu492Asp)
c.654G>T (p.Glu218Asp)
n.3669G>T
c.3696G>T (p.Glu1232Asp)
c.3624G>T (p.Glu1208Asp)
c.3486G>T (p.Glu1162Asp)
c.1572G>T (p.Glu524Asp)
 gnomAD v4
16g.2111591C>GCA394382828PKD1c.3576G>C (p.Glu1192Asp)
n.310+749G>C
n.430+749G>C
n.526G>C
c.233+225G>C
n.790+749G>C
c.473-3233G>C
n.773+749G>C
c.2226+749G>C (n.2226+749G>C)
n.421+749G>C
c.531G>C (p.Glu177Asp)
c.3654G>C (p.Glu1218Asp)
c.3630G>C (p.Glu1210Asp)
c.3600G>C (p.Glu1200Asp)
c.3582G>C (p.Glu1194Asp)
c.3528G>C (p.Glu1176Asp)
c.3447G>C (p.Glu1149Asp)
c.3390G>C (p.Glu1130Asp)
c.1476G>C (p.Glu492Asp)
c.654G>C (p.Glu218Asp)
n.3669G>C
c.3696G>C (p.Glu1232Asp)
c.3624G>C (p.Glu1208Asp)
c.3486G>C (p.Glu1162Asp)
c.1572G>C (p.Glu524Asp)
 gnomAD v4
16g.2111591C>TCA493049310PKD1c.3576G>A (p.Glu1192=)
n.310+749G>A
n.430+749G>A
n.526G>A
c.233+225G>A
n.790+749G>A
c.473-3233G>A
n.773+749G>A
c.2226+749G>A (n.2226+749G>A)
n.421+749G>A
c.531G>A (p.Glu177=)
c.3654G>A (p.Glu1218=)
c.3630G>A (p.Glu1210=)
c.3600G>A (p.Glu1200=)
c.3582G>A (p.Glu1194=)
c.3528G>A (p.Glu1176=)
c.3447G>A (p.Glu1149=)
c.3390G>A (p.Glu1130=)
c.1476G>A (p.Glu492=)
c.654G>A (p.Glu218=)
n.3669G>A
c.3696G>A (p.Glu1232=)
c.3624G>A (p.Glu1208=)
c.3486G>A (p.Glu1162=)
c.1572G>A (p.Glu524=)
16g.2111592T>ACA394382829PKD1c.3575A>T (p.Glu1192Val)
n.310+748A>T
n.430+748A>T
n.525A>T
c.233+224A>T
n.790+748A>T
c.473-3234A>T
n.773+748A>T
c.2226+748A>T (n.2226+748A>T)
n.421+748A>T
c.530A>T (p.Glu177Val)
c.3653A>T (p.Glu1218Val)
c.3629A>T (p.Glu1210Val)
c.3599A>T (p.Glu1200Val)
c.3581A>T (p.Glu1194Val)
c.3527A>T (p.Glu1176Val)
c.3446A>T (p.Glu1149Val)
c.3389A>T (p.Glu1130Val)
c.1475A>T (p.Glu492Val)
c.653A>T (p.Glu218Val)
n.3668A>T
c.3695A>T (p.Glu1232Val)
c.3623A>T (p.Glu1208Val)
c.3485A>T (p.Glu1162Val)
c.1571A>T (p.Glu524Val)
16g.2111592T>CCA394382830PKD1c.3575A>G (p.Glu1192Gly)
n.310+748A>G
n.430+748A>G
n.525A>G
c.233+224A>G
n.790+748A>G
c.473-3234A>G
n.773+748A>G
c.2226+748A>G (n.2226+748A>G)
n.421+748A>G
c.530A>G (p.Glu177Gly)
c.3653A>G (p.Glu1218Gly)
c.3629A>G (p.Glu1210Gly)
c.3599A>G (p.Glu1200Gly)
c.3581A>G (p.Glu1194Gly)
c.3527A>G (p.Glu1176Gly)
c.3446A>G (p.Glu1149Gly)
c.3389A>G (p.Glu1130Gly)
c.1475A>G (p.Glu492Gly)
c.653A>G (p.Glu218Gly)
n.3668A>G
c.3695A>G (p.Glu1232Gly)
c.3623A>G (p.Glu1208Gly)
c.3485A>G (p.Glu1162Gly)
c.1571A>G (p.Glu524Gly)
 dbSNP gnomAD v4
16g.2111592T>GCA394382831PKD1c.3575A>C (p.Glu1192Ala)
n.310+748A>C
n.430+748A>C
n.525A>C
c.233+224A>C
n.790+748A>C
c.473-3234A>C
n.773+748A>C
c.2226+748A>C (n.2226+748A>C)
n.421+748A>C
c.530A>C (p.Glu177Ala)
c.3653A>C (p.Glu1218Ala)
c.3629A>C (p.Glu1210Ala)
c.3599A>C (p.Glu1200Ala)
c.3581A>C (p.Glu1194Ala)
c.3527A>C (p.Glu1176Ala)
c.3446A>C (p.Glu1149Ala)
c.3389A>C (p.Glu1130Ala)
c.1475A>C (p.Glu492Ala)
c.653A>C (p.Glu218Ala)
n.3668A>C
c.3695A>C (p.Glu1232Ala)
c.3623A>C (p.Glu1208Ala)
c.3485A>C (p.Glu1162Ala)
c.1571A>C (p.Glu524Ala)
16g.2111592T=CA2202047699PKD1c.3575A= (p.Glu1192=)
n.310+748A=
n.430+748A=
n.525A=
c.233+224A=
n.790+748A=
c.473-3234A=
n.773+748A=
c.2226+748A= (n.2226+748A=)
n.421+748A=
c.530A= (p.Glu177=)
c.3653A= (p.Glu1218=)
c.3629A= (p.Glu1210=)
c.3599A= (p.Glu1200=)
c.3581A= (p.Glu1194=)
c.3527A= (p.Glu1176=)
c.3446A= (p.Glu1149=)
c.3389A= (p.Glu1130=)
c.1475A= (p.Glu492=)
c.653A= (p.Glu218=)
n.3668A=
c.3695A= (p.Glu1232=)
c.3623A= (p.Glu1208=)
c.3485A= (p.Glu1162=)
c.1571A= (p.Glu524=)
16g.2111593C>ACA394382834PKD1c.3574G>T (p.Glu1192Ter)
n.310+747G>T
n.430+747G>T
n.524G>T
c.233+223G>T
n.790+747G>T
c.473-3235G>T
n.773+747G>T
c.2226+747G>T (n.2226+747G>T)
n.421+747G>T
c.529G>T (p.Glu177Ter)
c.3652G>T (p.Glu1218Ter)
c.3628G>T (p.Glu1210Ter)
c.3598G>T (p.Glu1200Ter)
c.3580G>T (p.Glu1194Ter)
c.3526G>T (p.Glu1176Ter)
c.3445G>T (p.Glu1149Ter)
c.3388G>T (p.Glu1130Ter)
c.1474G>T (p.Glu492Ter)
c.652G>T (p.Glu218Ter)
n.3667G>T
c.3694G>T (p.Glu1232Ter)
c.3622G>T (p.Glu1208Ter)
c.3484G>T (p.Glu1162Ter)
c.1570G>T (p.Glu524Ter)
 gnomAD v4
16g.2111593C>GCA394382832PKD1c.3574G>C (p.Glu1192Gln)
n.310+747G>C
n.430+747G>C
n.524G>C
c.233+223G>C
n.790+747G>C
c.473-3235G>C
n.773+747G>C
c.2226+747G>C (n.2226+747G>C)
n.421+747G>C
c.529G>C (p.Glu177Gln)
c.3652G>C (p.Glu1218Gln)
c.3628G>C (p.Glu1210Gln)
c.3598G>C (p.Glu1200Gln)
c.3580G>C (p.Glu1194Gln)
c.3526G>C (p.Glu1176Gln)
c.3445G>C (p.Glu1149Gln)
c.3388G>C (p.Glu1130Gln)
c.1474G>C (p.Glu492Gln)
c.652G>C (p.Glu218Gln)
n.3667G>C
c.3694G>C (p.Glu1232Gln)
c.3622G>C (p.Glu1208Gln)
c.3484G>C (p.Glu1162Gln)
c.1570G>C (p.Glu524Gln)
16g.2111593C>TCA394382833PKD1c.3574G>A (p.Glu1192Lys)
n.310+747G>A
n.430+747G>A
n.524G>A
c.233+223G>A
n.790+747G>A
c.473-3235G>A
n.773+747G>A
c.2226+747G>A (n.2226+747G>A)
n.421+747G>A
c.529G>A (p.Glu177Lys)
c.3652G>A (p.Glu1218Lys)
c.3628G>A (p.Glu1210Lys)
c.3598G>A (p.Glu1200Lys)
c.3580G>A (p.Glu1194Lys)
c.3526G>A (p.Glu1176Lys)
c.3445G>A (p.Glu1149Lys)
c.3388G>A (p.Glu1130Lys)
c.1474G>A (p.Glu492Lys)
c.652G>A (p.Glu218Lys)
n.3667G>A
c.3694G>A (p.Glu1232Lys)
c.3622G>A (p.Glu1208Lys)
c.3484G>A (p.Glu1162Lys)
c.1570G>A (p.Glu524Lys)
16g.2111594C>ACA493049315PKD1c.3573G>T (p.Leu1191=)
n.310+746G>T
n.430+746G>T
n.523G>T
c.233+222G>T
n.790+746G>T
c.473-3236G>T
n.773+746G>T
c.2226+746G>T (n.2226+746G>T)
n.421+746G>T
c.528G>T (p.Leu176=)
c.3651G>T (p.Leu1217=)
c.3627G>T (p.Leu1209=)
c.3597G>T (p.Leu1199=)
c.3579G>T (p.Leu1193=)
c.3525G>T (p.Leu1175=)
c.3444G>T (p.Leu1148=)
c.3387G>T (p.Leu1129=)
c.1473G>T (p.Leu491=)
c.651G>T (p.Leu217=)
n.3666G>T
c.3693G>T (p.Leu1231=)
c.3621G>T (p.Leu1207=)
c.3483G>T (p.Leu1161=)
c.1569G>T (p.Leu523=)
 gnomAD v4
16g.2111594C=CA2202047700PKD1c.3573G= (p.Leu1191=)
n.310+746G=
n.430+746G=
n.523G=
c.233+222G=
n.790+746G=
c.473-3236G=
n.773+746G=
c.2226+746G= (n.2226+746G=)
n.421+746G=
c.528G= (p.Leu176=)
c.3651G= (p.Leu1217=)
c.3627G= (p.Leu1209=)
c.3597G= (p.Leu1199=)
c.3579G= (p.Leu1193=)
c.3525G= (p.Leu1175=)
c.3444G= (p.Leu1148=)
c.3387G= (p.Leu1129=)
c.1473G= (p.Leu491=)
c.651G= (p.Leu217=)
n.3666G=
c.3693G= (p.Leu1231=)
c.3621G= (p.Leu1207=)
c.3483G= (p.Leu1161=)
c.1569G= (p.Leu523=)
16g.2111594C>GCA493049316PKD1c.3573G>C (p.Leu1191=)
n.310+746G>C
n.430+746G>C
n.523G>C
c.233+222G>C
n.790+746G>C
c.473-3236G>C
n.773+746G>C
c.2226+746G>C (n.2226+746G>C)
n.421+746G>C
c.528G>C (p.Leu176=)
c.3651G>C (p.Leu1217=)
c.3627G>C (p.Leu1209=)
c.3597G>C (p.Leu1199=)
c.3579G>C (p.Leu1193=)
c.3525G>C (p.Leu1175=)
c.3444G>C (p.Leu1148=)
c.3387G>C (p.Leu1129=)
c.1473G>C (p.Leu491=)
c.651G>C (p.Leu217=)
n.3666G>C
c.3693G>C (p.Leu1231=)
c.3621G>C (p.Leu1207=)
c.3483G>C (p.Leu1161=)
c.1569G>C (p.Leu523=)
16g.2111594C>TCA7832723PKD1c.3573G>A (p.Leu1191=)
n.310+746G>A
n.430+746G>A
n.523G>A
c.233+222G>A
n.790+746G>A
c.473-3236G>A
n.773+746G>A
c.2226+746G>A (n.2226+746G>A)
n.421+746G>A
c.528G>A (p.Leu176=)
c.3651G>A (p.Leu1217=)
c.3627G>A (p.Leu1209=)
c.3597G>A (p.Leu1199=)
c.3579G>A (p.Leu1193=)
c.3525G>A (p.Leu1175=)
c.3444G>A (p.Leu1148=)
c.3387G>A (p.Leu1129=)
c.1473G>A (p.Leu491=)
c.651G>A (p.Leu217=)
n.3666G>A
c.3693G>A (p.Leu1231=)
c.3621G>A (p.Leu1207=)
c.3483G>A (p.Leu1161=)
c.1569G>A (p.Leu523=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2111594_2111595insTCA2202047701PKD1c.3572_3573insA (p.Glu1192GlyfsTer19)
n.310+745_310+746insA
n.430+745_430+746insA
n.522_523insA
c.233+221_233+222insA
n.790+745_790+746insA
c.473-3237_473-3236insA
n.773+745_773+746insA
c.2226+745_2226+746insA (n.2226+745_2226+746insA)
n.421+745_421+746insA
c.527_528insA (p.Glu177GlyfsTer19)
c.3650_3651insA (p.Glu1218GlyfsTer19)
c.3626_3627insA (p.Glu1210GlyfsTer19)
c.3596_3597insA (p.Glu1200GlyfsTer19)
c.3578_3579insA (p.Glu1194GlyfsTer19)
c.3524_3525insA (p.Glu1176GlyfsTer19)
c.3443_3444insA (p.Glu1149GlyfsTer19)
c.3386_3387insA (p.Glu1130GlyfsTer19)
c.1472_1473insA (p.Glu492GlyfsTer19)
c.650_651insA (p.Glu218GlyfsTer19)
n.3665_3666insA
c.3692_3693insA (p.Glu1232GlyfsTer19)
c.3620_3621insA (p.Glu1208GlyfsTer19)
c.3482_3483insA (p.Glu1162GlyfsTer19)
c.1568_1569insA (p.Glu524GlyfsTer19)
 ClinVar dbSNP
16g.2111595A>CCA394382835PKD1c.3572T>G (p.Leu1191Arg)
n.310+745T>G
n.430+745T>G
n.522T>G
c.233+221T>G
n.790+745T>G
c.473-3237T>G
n.773+745T>G
c.2226+745T>G (n.2226+745T>G)
n.421+745T>G
c.527T>G (p.Leu176Arg)
c.3650T>G (p.Leu1217Arg)
c.3626T>G (p.Leu1209Arg)
c.3596T>G (p.Leu1199Arg)
c.3578T>G (p.Leu1193Arg)
c.3524T>G (p.Leu1175Arg)
c.3443T>G (p.Leu1148Arg)
c.3386T>G (p.Leu1129Arg)
c.1472T>G (p.Leu491Arg)
c.650T>G (p.Leu217Arg)
n.3665T>G
c.3692T>G (p.Leu1231Arg)
c.3620T>G (p.Leu1207Arg)
c.3482T>G (p.Leu1161Arg)
c.1568T>G (p.Leu523Arg)
16g.2111595A>GCA394382836PKD1c.3572T>C (p.Leu1191Pro)
n.310+745T>C
n.430+745T>C
n.522T>C
c.233+221T>C
n.790+745T>C
c.473-3237T>C
n.773+745T>C
c.2226+745T>C (n.2226+745T>C)
n.421+745T>C
c.527T>C (p.Leu176Pro)
c.3650T>C (p.Leu1217Pro)
c.3626T>C (p.Leu1209Pro)
c.3596T>C (p.Leu1199Pro)
c.3578T>C (p.Leu1193Pro)
c.3524T>C (p.Leu1175Pro)
c.3443T>C (p.Leu1148Pro)
c.3386T>C (p.Leu1129Pro)
c.1472T>C (p.Leu491Pro)
c.650T>C (p.Leu217Pro)
n.3665T>C
c.3692T>C (p.Leu1231Pro)
c.3620T>C (p.Leu1207Pro)
c.3482T>C (p.Leu1161Pro)
c.1568T>C (p.Leu523Pro)
16g.2111595A>TCA394382837PKD1c.3572T>A (p.Leu1191Gln)
n.310+745T>A
n.430+745T>A
n.522T>A
c.233+221T>A
n.790+745T>A
c.473-3237T>A
n.773+745T>A
c.2226+745T>A (n.2226+745T>A)
n.421+745T>A
c.527T>A (p.Leu176Gln)
c.3650T>A (p.Leu1217Gln)
c.3626T>A (p.Leu1209Gln)
c.3596T>A (p.Leu1199Gln)
c.3578T>A (p.Leu1193Gln)
c.3524T>A (p.Leu1175Gln)
c.3443T>A (p.Leu1148Gln)
c.3386T>A (p.Leu1129Gln)
c.1472T>A (p.Leu491Gln)
c.650T>A (p.Leu217Gln)
n.3665T>A
c.3692T>A (p.Leu1231Gln)
c.3620T>A (p.Leu1207Gln)
c.3482T>A (p.Leu1161Gln)
c.1568T>A (p.Leu523Gln)
16g.2111596G>ACA493049319PKD1c.3571C>T (p.Leu1191=)
n.310+744C>T
n.430+744C>T
n.521C>T
c.233+220C>T
n.790+744C>T
c.473-3238C>T
n.773+744C>T
c.2226+744C>T (n.2226+744C>T)
n.421+744C>T
c.526C>T (p.Leu176=)
c.3649C>T (p.Leu1217=)
c.3625C>T (p.Leu1209=)
c.3595C>T (p.Leu1199=)
c.3577C>T (p.Leu1193=)
c.3523C>T (p.Leu1175=)
c.3442C>T (p.Leu1148=)
c.3385C>T (p.Leu1129=)
c.1471C>T (p.Leu491=)
c.649C>T (p.Leu217=)
n.3664C>T
c.3691C>T (p.Leu1231=)
c.3619C>T (p.Leu1207=)
c.3481C>T (p.Leu1161=)
c.1567C>T (p.Leu523=)
16g.2111596G>CCA7832724PKD1c.3571C>G (p.Leu1191Val)
n.310+744C>G
n.430+744C>G
n.521C>G
c.233+220C>G
n.790+744C>G
c.473-3238C>G
n.773+744C>G
c.2226+744C>G (n.2226+744C>G)
n.421+744C>G
c.526C>G (p.Leu176Val)
c.3649C>G (p.Leu1217Val)
c.3625C>G (p.Leu1209Val)
c.3595C>G (p.Leu1199Val)
c.3577C>G (p.Leu1193Val)
c.3523C>G (p.Leu1175Val)
c.3442C>G (p.Leu1148Val)
c.3385C>G (p.Leu1129Val)
c.1471C>G (p.Leu491Val)
c.649C>G (p.Leu217Val)
n.3664C>G
c.3691C>G (p.Leu1231Val)
c.3619C>G (p.Leu1207Val)
c.3481C>G (p.Leu1161Val)
c.1567C>G (p.Leu523Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111596G=CA2202047702PKD1c.3571C= (p.Leu1191=)
n.310+744C=
n.430+744C=
n.521C=
c.233+220C=
n.790+744C=
c.473-3238C=
n.773+744C=
c.2226+744C= (n.2226+744C=)
n.421+744C=
c.526C= (p.Leu176=)
c.3649C= (p.Leu1217=)
c.3625C= (p.Leu1209=)
c.3595C= (p.Leu1199=)
c.3577C= (p.Leu1193=)
c.3523C= (p.Leu1175=)
c.3442C= (p.Leu1148=)
c.3385C= (p.Leu1129=)
c.1471C= (p.Leu491=)
c.649C= (p.Leu217=)
n.3664C=
c.3691C= (p.Leu1231=)
c.3619C= (p.Leu1207=)
c.3481C= (p.Leu1161=)
c.1567C= (p.Leu523=)
16g.2111596G>TCA394382838PKD1c.3571C>A (p.Leu1191Met)
n.310+744C>A
n.430+744C>A
n.521C>A
c.233+220C>A
n.790+744C>A
c.473-3238C>A
n.773+744C>A
c.2226+744C>A (n.2226+744C>A)
n.421+744C>A
c.526C>A (p.Leu176Met)
c.3649C>A (p.Leu1217Met)
c.3625C>A (p.Leu1209Met)
c.3595C>A (p.Leu1199Met)
c.3577C>A (p.Leu1193Met)
c.3523C>A (p.Leu1175Met)
c.3442C>A (p.Leu1148Met)
c.3385C>A (p.Leu1129Met)
c.1471C>A (p.Leu491Met)
c.649C>A (p.Leu217Met)
n.3664C>A
c.3691C>A (p.Leu1231Met)
c.3619C>A (p.Leu1207Met)
c.3481C>A (p.Leu1161Met)
c.1567C>A (p.Leu523Met)
 gnomAD v4
16g.2111597G>ACA493049326PKD1c.3570C>T (p.Arg1190=)
n.310+743C>T
n.430+743C>T
n.520C>T
c.233+219C>T
n.790+743C>T
c.473-3239C>T
n.773+743C>T
c.2226+743C>T (n.2226+743C>T)
n.421+743C>T
c.525C>T (p.Arg175=)
c.3648C>T (p.Arg1216=)
c.3624C>T (p.Arg1208=)
c.3594C>T (p.Arg1198=)
c.3576C>T (p.Arg1192=)
c.3522C>T (p.Arg1174=)
c.3441C>T (p.Arg1147=)
c.3384C>T (p.Arg1128=)
c.1470C>T (p.Arg490=)
c.648C>T (p.Arg216=)
n.3663C>T
c.3690C>T (p.Arg1230=)
c.3618C>T (p.Arg1206=)
c.3480C>T (p.Arg1160=)
c.1566C>T (p.Arg522=)
 gnomAD v4
16g.2111597G>CCA493049320PKD1c.3570C>G (p.Arg1190=)
n.310+743C>G
n.430+743C>G
n.520C>G
c.233+219C>G
n.790+743C>G
c.473-3239C>G
n.773+743C>G
c.2226+743C>G (n.2226+743C>G)
n.421+743C>G
c.525C>G (p.Arg175=)
c.3648C>G (p.Arg1216=)
c.3624C>G (p.Arg1208=)
c.3594C>G (p.Arg1198=)
c.3576C>G (p.Arg1192=)
c.3522C>G (p.Arg1174=)
c.3441C>G (p.Arg1147=)
c.3384C>G (p.Arg1128=)
c.1470C>G (p.Arg490=)
c.648C>G (p.Arg216=)
n.3663C>G
c.3690C>G (p.Arg1230=)
c.3618C>G (p.Arg1206=)
c.3480C>G (p.Arg1160=)
c.1566C>G (p.Arg522=)
16g.2111597G>TCA493049324PKD1c.3570C>A (p.Arg1190=)
n.310+743C>A
n.430+743C>A
n.520C>A
c.233+219C>A
n.790+743C>A
c.473-3239C>A
n.773+743C>A
c.2226+743C>A (n.2226+743C>A)
n.421+743C>A
c.525C>A (p.Arg175=)
c.3648C>A (p.Arg1216=)
c.3624C>A (p.Arg1208=)
c.3594C>A (p.Arg1198=)
c.3576C>A (p.Arg1192=)
c.3522C>A (p.Arg1174=)
c.3441C>A (p.Arg1147=)
c.3384C>A (p.Arg1128=)
c.1470C>A (p.Arg490=)
c.648C>A (p.Arg216=)
n.3663C>A
c.3690C>A (p.Arg1230=)
c.3618C>A (p.Arg1206=)
c.3480C>A (p.Arg1160=)
c.1566C>A (p.Arg522=)
16g.2111598C>ACA7832725PKD1c.3569G>T (p.Arg1190Leu)
n.310+742G>T
n.430+742G>T
n.519G>T
c.233+218G>T
n.790+742G>T
c.473-3240G>T
n.773+742G>T
c.2226+742G>T (n.2226+742G>T)
n.421+742G>T
c.524G>T (p.Arg175Leu)
c.3647G>T (p.Arg1216Leu)
c.3623G>T (p.Arg1208Leu)
c.3593G>T (p.Arg1198Leu)
c.3575G>T (p.Arg1192Leu)
c.3521G>T (p.Arg1174Leu)
c.3440G>T (p.Arg1147Leu)
c.3383G>T (p.Arg1128Leu)
c.1469G>T (p.Arg490Leu)
c.647G>T (p.Arg216Leu)
n.3662G>T
c.3689G>T (p.Arg1230Leu)
c.3617G>T (p.Arg1206Leu)
c.3479G>T (p.Arg1160Leu)
c.1565G>T (p.Arg522Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2111598C=CA2202047703PKD1c.3569G= (p.Arg1190=)
n.310+742G=
n.430+742G=
n.519G=
c.233+218G=
n.790+742G=
c.473-3240G=
n.773+742G=
c.2226+742G= (n.2226+742G=)
n.421+742G=
c.524G= (p.Arg175=)
c.3647G= (p.Arg1216=)
c.3623G= (p.Arg1208=)
c.3593G= (p.Arg1198=)
c.3575G= (p.Arg1192=)
c.3521G= (p.Arg1174=)
c.3440G= (p.Arg1147=)
c.3383G= (p.Arg1128=)
c.1469G= (p.Arg490=)
c.647G= (p.Arg216=)
n.3662G=
c.3689G= (p.Arg1230=)
c.3617G= (p.Arg1206=)
c.3479G= (p.Arg1160=)
c.1565G= (p.Arg522=)
16g.2111598C>GCA394382839PKD1c.3569G>C (p.Arg1190Pro)
n.310+742G>C
n.430+742G>C
n.519G>C
c.233+218G>C
n.790+742G>C
c.473-3240G>C
n.773+742G>C
c.2226+742G>C (n.2226+742G>C)
n.421+742G>C
c.524G>C (p.Arg175Pro)
c.3647G>C (p.Arg1216Pro)
c.3623G>C (p.Arg1208Pro)
c.3593G>C (p.Arg1198Pro)
c.3575G>C (p.Arg1192Pro)
c.3521G>C (p.Arg1174Pro)
c.3440G>C (p.Arg1147Pro)
c.3383G>C (p.Arg1128Pro)
c.1469G>C (p.Arg490Pro)
c.647G>C (p.Arg216Pro)
n.3662G>C
c.3689G>C (p.Arg1230Pro)
c.3617G>C (p.Arg1206Pro)
c.3479G>C (p.Arg1160Pro)
c.1565G>C (p.Arg522Pro)
16g.2111598C>TCA7832726PKD1c.3569G>A (p.Arg1190His)
n.310+742G>A
n.430+742G>A
n.519G>A
c.233+218G>A
n.790+742G>A
c.473-3240G>A
n.773+742G>A
c.2226+742G>A (n.2226+742G>A)
n.421+742G>A
c.524G>A (p.Arg175His)
c.3647G>A (p.Arg1216His)
c.3623G>A (p.Arg1208His)
c.3593G>A (p.Arg1198His)
c.3575G>A (p.Arg1192His)
c.3521G>A (p.Arg1174His)
c.3440G>A (p.Arg1147His)
c.3383G>A (p.Arg1128His)
c.1469G>A (p.Arg490His)
c.647G>A (p.Arg216His)
n.3662G>A
c.3689G>A (p.Arg1230His)
c.3617G>A (p.Arg1206His)
c.3479G>A (p.Arg1160His)
c.1565G>A (p.Arg522His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111599G>ACA276781901PKD1c.3568C>T (p.Arg1190Cys)
n.310+741C>T
n.430+741C>T
n.518C>T
c.233+217C>T
n.790+741C>T
c.473-3241C>T
n.773+741C>T
c.2226+741C>T (n.2226+741C>T)
n.421+741C>T
c.523C>T (p.Arg175Cys)
c.3646C>T (p.Arg1216Cys)
c.3622C>T (p.Arg1208Cys)
c.3592C>T (p.Arg1198Cys)
c.3574C>T (p.Arg1192Cys)
c.3520C>T (p.Arg1174Cys)
c.3439C>T (p.Arg1147Cys)
c.3382C>T (p.Arg1128Cys)
c.1468C>T (p.Arg490Cys)
c.646C>T (p.Arg216Cys)
n.3661C>T
c.3688C>T (p.Arg1230Cys)
c.3616C>T (p.Arg1206Cys)
c.3478C>T (p.Arg1160Cys)
c.1564C>T (p.Arg522Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2111599G>CCA394382840PKD1c.3568C>G (p.Arg1190Gly)
n.310+741C>G
n.430+741C>G
n.518C>G
c.233+217C>G
n.790+741C>G
c.473-3241C>G
n.773+741C>G
c.2226+741C>G (n.2226+741C>G)
n.421+741C>G
c.523C>G (p.Arg175Gly)
c.3646C>G (p.Arg1216Gly)
c.3622C>G (p.Arg1208Gly)
c.3592C>G (p.Arg1198Gly)
c.3574C>G (p.Arg1192Gly)
c.3520C>G (p.Arg1174Gly)
c.3439C>G (p.Arg1147Gly)
c.3382C>G (p.Arg1128Gly)
c.1468C>G (p.Arg490Gly)
c.646C>G (p.Arg216Gly)
n.3661C>G
c.3688C>G (p.Arg1230Gly)
c.3616C>G (p.Arg1206Gly)
c.3478C>G (p.Arg1160Gly)
c.1564C>G (p.Arg522Gly)
16g.2111599G=CA2202047704PKD1c.3568C= (p.Arg1190=)
n.310+741C=
n.430+741C=
n.518C=
c.233+217C=
n.790+741C=
c.473-3241C=
n.773+741C=
c.2226+741C= (n.2226+741C=)
n.421+741C=
c.523C= (p.Arg175=)
c.3646C= (p.Arg1216=)
c.3622C= (p.Arg1208=)
c.3592C= (p.Arg1198=)
c.3574C= (p.Arg1192=)
c.3520C= (p.Arg1174=)
c.3439C= (p.Arg1147=)
c.3382C= (p.Arg1128=)
c.1468C= (p.Arg490=)
c.646C= (p.Arg216=)
n.3661C=
c.3688C= (p.Arg1230=)
c.3616C= (p.Arg1206=)
c.3478C= (p.Arg1160=)
c.1564C= (p.Arg522=)
16g.2111599G>TCA394382841PKD1c.3568C>A (p.Arg1190Ser)
n.310+741C>A
n.430+741C>A
n.518C>A
c.233+217C>A
n.790+741C>A
c.473-3241C>A
n.773+741C>A
c.2226+741C>A (n.2226+741C>A)
n.421+741C>A
c.523C>A (p.Arg175Ser)
c.3646C>A (p.Arg1216Ser)
c.3622C>A (p.Arg1208Ser)
c.3592C>A (p.Arg1198Ser)
c.3574C>A (p.Arg1192Ser)
c.3520C>A (p.Arg1174Ser)
c.3439C>A (p.Arg1147Ser)
c.3382C>A (p.Arg1128Ser)
c.1468C>A (p.Arg490Ser)
c.646C>A (p.Arg216Ser)
n.3661C>A
c.3688C>A (p.Arg1230Ser)
c.3616C>A (p.Arg1206Ser)
c.3478C>A (p.Arg1160Ser)
c.1564C>A (p.Arg522Ser)
 gnomAD v4
16g.2111600C>ACA493049333PKD1c.3567G>T (p.Val1189=)
n.310+740G>T
n.430+740G>T
n.517G>T
c.233+216G>T
n.790+740G>T
c.473-3242G>T
n.773+740G>T
c.2226+740G>T (n.2226+740G>T)
n.421+740G>T
c.522G>T (p.Val174=)
c.3645G>T (p.Val1215=)
c.3621G>T (p.Val1207=)
c.3591G>T (p.Val1197=)
c.3573G>T (p.Val1191=)
c.3519G>T (p.Val1173=)
c.3438G>T (p.Val1146=)
c.3381G>T (p.Val1127=)
c.1467G>T (p.Val489=)
c.645G>T (p.Val215=)
n.3660G>T
c.3687G>T (p.Val1229=)
c.3615G>T (p.Val1205=)
c.3477G>T (p.Val1159=)
c.1563G>T (p.Val521=)
 dbSNP gnomAD v3 gnomAD v4
16g.2111600C=CA2202047705PKD1c.3567G= (p.Val1189=)
n.310+740G=
n.430+740G=
n.517G=
c.233+216G=
n.790+740G=
c.473-3242G=
n.773+740G=
c.2226+740G= (n.2226+740G=)
n.421+740G=
c.522G= (p.Val174=)
c.3645G= (p.Val1215=)
c.3621G= (p.Val1207=)
c.3591G= (p.Val1197=)
c.3573G= (p.Val1191=)
c.3519G= (p.Val1173=)
c.3438G= (p.Val1146=)
c.3381G= (p.Val1127=)
c.1467G= (p.Val489=)
c.645G= (p.Val215=)
n.3660G=
c.3687G= (p.Val1229=)
c.3615G= (p.Val1205=)
c.3477G= (p.Val1159=)
c.1563G= (p.Val521=)
16g.2111600C>GCA493049334PKD1c.3567G>C (p.Val1189=)
n.310+740G>C
n.430+740G>C
n.517G>C
c.233+216G>C
n.790+740G>C
c.473-3242G>C
n.773+740G>C
c.2226+740G>C (n.2226+740G>C)
n.421+740G>C
c.522G>C (p.Val174=)
c.3645G>C (p.Val1215=)
c.3621G>C (p.Val1207=)
c.3591G>C (p.Val1197=)
c.3573G>C (p.Val1191=)
c.3519G>C (p.Val1173=)
c.3438G>C (p.Val1146=)
c.3381G>C (p.Val1127=)
c.1467G>C (p.Val489=)
c.645G>C (p.Val215=)
n.3660G>C
c.3687G>C (p.Val1229=)
c.3615G>C (p.Val1205=)
c.3477G>C (p.Val1159=)
c.1563G>C (p.Val521=)
16g.2111600C>TCA493049335PKD1c.3567G>A (p.Val1189=)
n.310+740G>A
n.430+740G>A
n.517G>A
c.233+216G>A
n.790+740G>A
c.473-3242G>A
n.773+740G>A
c.2226+740G>A (n.2226+740G>A)
n.421+740G>A
c.522G>A (p.Val174=)
c.3645G>A (p.Val1215=)
c.3621G>A (p.Val1207=)
c.3591G>A (p.Val1197=)
c.3573G>A (p.Val1191=)
c.3519G>A (p.Val1173=)
c.3438G>A (p.Val1146=)
c.3381G>A (p.Val1127=)
c.1467G>A (p.Val489=)
c.645G>A (p.Val215=)
n.3660G>A
c.3687G>A (p.Val1229=)
c.3615G>A (p.Val1205=)
c.3477G>A (p.Val1159=)
c.1563G>A (p.Val521=)
 dbSNP gnomAD v2 gnomAD v4
16g.2111601A>CCA394382844PKD1c.3566T>G (p.Val1189Gly)
n.310+739T>G
n.430+739T>G
n.516T>G
c.233+215T>G
n.790+739T>G
c.473-3243T>G
n.773+739T>G
c.2226+739T>G (n.2226+739T>G)
n.421+739T>G
c.521T>G (p.Val174Gly)
c.3644T>G (p.Val1215Gly)
c.3620T>G (p.Val1207Gly)
c.3590T>G (p.Val1197Gly)
c.3572T>G (p.Val1191Gly)
c.3518T>G (p.Val1173Gly)
c.3437T>G (p.Val1146Gly)
c.3380T>G (p.Val1127Gly)
c.1466T>G (p.Val489Gly)
c.644T>G (p.Val215Gly)
n.3659T>G
c.3686T>G (p.Val1229Gly)
c.3614T>G (p.Val1205Gly)
c.3476T>G (p.Val1159Gly)
c.1562T>G (p.Val521Gly)
 gnomAD v4
16g.2111601A>GCA394382842PKD1c.3566T>C (p.Val1189Ala)
n.310+739T>C
n.430+739T>C
n.516T>C
c.233+215T>C
n.790+739T>C
c.473-3243T>C
n.773+739T>C
c.2226+739T>C (n.2226+739T>C)
n.421+739T>C
c.521T>C (p.Val174Ala)
c.3644T>C (p.Val1215Ala)
c.3620T>C (p.Val1207Ala)
c.3590T>C (p.Val1197Ala)
c.3572T>C (p.Val1191Ala)
c.3518T>C (p.Val1173Ala)
c.3437T>C (p.Val1146Ala)
c.3380T>C (p.Val1127Ala)
c.1466T>C (p.Val489Ala)
c.644T>C (p.Val215Ala)
n.3659T>C
c.3686T>C (p.Val1229Ala)
c.3614T>C (p.Val1205Ala)
c.3476T>C (p.Val1159Ala)
c.1562T>C (p.Val521Ala)
16g.2111601A>TCA394382843PKD1c.3566T>A (p.Val1189Glu)
n.310+739T>A
n.430+739T>A
n.516T>A
c.233+215T>A
n.790+739T>A
c.473-3243T>A
n.773+739T>A
c.2226+739T>A (n.2226+739T>A)
n.421+739T>A
c.521T>A (p.Val174Glu)
c.3644T>A (p.Val1215Glu)
c.3620T>A (p.Val1207Glu)
c.3590T>A (p.Val1197Glu)
c.3572T>A (p.Val1191Glu)
c.3518T>A (p.Val1173Glu)
c.3437T>A (p.Val1146Glu)
c.3380T>A (p.Val1127Glu)
c.1466T>A (p.Val489Glu)
c.644T>A (p.Val215Glu)
n.3659T>A
c.3686T>A (p.Val1229Glu)
c.3614T>A (p.Val1205Glu)
c.3476T>A (p.Val1159Glu)
c.1562T>A (p.Val521Glu)
16g.2111602C>ACA394382845PKD1c.3565G>T (p.Val1189Leu)
n.310+738G>T
n.430+738G>T
n.515G>T
c.233+214G>T
n.790+738G>T
c.473-3244G>T
n.773+738G>T
c.2226+738G>T (n.2226+738G>T)
n.421+738G>T
c.520G>T (p.Val174Leu)
c.3643G>T (p.Val1215Leu)
c.3619G>T (p.Val1207Leu)
c.3589G>T (p.Val1197Leu)
c.3571G>T (p.Val1191Leu)
c.3517G>T (p.Val1173Leu)
c.3436G>T (p.Val1146Leu)
c.3379G>T (p.Val1127Leu)
c.1465G>T (p.Val489Leu)
c.643G>T (p.Val215Leu)
n.3658G>T
c.3685G>T (p.Val1229Leu)
c.3613G>T (p.Val1205Leu)
c.3475G>T (p.Val1159Leu)
c.1561G>T (p.Val521Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.2111602C=CA2202047706PKD1c.3565G= (p.Val1189=)
n.310+738G=
n.430+738G=
n.515G=
c.233+214G=
n.790+738G=
c.473-3244G=
n.773+738G=
c.2226+738G= (n.2226+738G=)
n.421+738G=
c.520G= (p.Val174=)
c.3643G= (p.Val1215=)
c.3619G= (p.Val1207=)
c.3589G= (p.Val1197=)
c.3571G= (p.Val1191=)
c.3517G= (p.Val1173=)
c.3436G= (p.Val1146=)
c.3379G= (p.Val1127=)
c.1465G= (p.Val489=)
c.643G= (p.Val215=)
n.3658G=
c.3685G= (p.Val1229=)
c.3613G= (p.Val1205=)
c.3475G= (p.Val1159=)
c.1561G= (p.Val521=)
16g.2111602C>GCA394382846PKD1c.3565G>C (p.Val1189Leu)
n.310+738G>C
n.430+738G>C
n.515G>C
c.233+214G>C
n.790+738G>C
c.473-3244G>C
n.773+738G>C
c.2226+738G>C (n.2226+738G>C)
n.421+738G>C
c.520G>C (p.Val174Leu)
c.3643G>C (p.Val1215Leu)
c.3619G>C (p.Val1207Leu)
c.3589G>C (p.Val1197Leu)
c.3571G>C (p.Val1191Leu)
c.3517G>C (p.Val1173Leu)
c.3436G>C (p.Val1146Leu)
c.3379G>C (p.Val1127Leu)
c.1465G>C (p.Val489Leu)
c.643G>C (p.Val215Leu)
n.3658G>C
c.3685G>C (p.Val1229Leu)
c.3613G>C (p.Val1205Leu)
c.3475G>C (p.Val1159Leu)
c.1561G>C (p.Val521Leu)
 gnomAD v4
16g.2111602C>TCA394382847PKD1c.3565G>A (p.Val1189Met)
n.310+738G>A
n.430+738G>A
n.515G>A
c.233+214G>A
n.790+738G>A
c.473-3244G>A
n.773+738G>A
c.2226+738G>A (n.2226+738G>A)
n.421+738G>A
c.520G>A (p.Val174Met)
c.3643G>A (p.Val1215Met)
c.3619G>A (p.Val1207Met)
c.3589G>A (p.Val1197Met)
c.3571G>A (p.Val1191Met)
c.3517G>A (p.Val1173Met)
c.3436G>A (p.Val1146Met)
c.3379G>A (p.Val1127Met)
c.1465G>A (p.Val489Met)
c.643G>A (p.Val215Met)
n.3658G>A
c.3685G>A (p.Val1229Met)
c.3613G>A (p.Val1205Met)
c.3475G>A (p.Val1159Met)
c.1561G>A (p.Val521Met)
 dbSNP gnomAD v2 gnomAD v4
16g.2111603G>ACA276781902PKD1c.3564C>T (p.His1188=)
n.310+737C>T
n.430+737C>T
n.514C>T
c.233+213C>T
n.790+737C>T
c.473-3245C>T
n.773+737C>T
c.2226+737C>T (n.2226+737C>T)
n.421+737C>T
c.519C>T (p.His173=)
c.3642C>T (p.His1214=)
c.3618C>T (p.His1206=)
c.3588C>T (p.His1196=)
c.3570C>T (p.His1190=)
c.3516C>T (p.His1172=)
c.3435C>T (p.His1145=)
c.3378C>T (p.His1126=)
c.1464C>T (p.His488=)
c.642C>T (p.His214=)
n.3657C>T
c.3684C>T (p.His1228=)
c.3612C>T (p.His1204=)
c.3474C>T (p.His1158=)
c.1560C>T (p.His520=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2111603G>CCA394382848PKD1c.3564C>G (p.His1188Gln)
n.310+737C>G
n.430+737C>G
n.514C>G
c.233+213C>G
n.790+737C>G
c.473-3245C>G
n.773+737C>G
c.2226+737C>G (n.2226+737C>G)
n.421+737C>G
c.519C>G (p.His173Gln)
c.3642C>G (p.His1214Gln)
c.3618C>G (p.His1206Gln)
c.3588C>G (p.His1196Gln)
c.3570C>G (p.His1190Gln)
c.3516C>G (p.His1172Gln)
c.3435C>G (p.His1145Gln)
c.3378C>G (p.His1126Gln)
c.1464C>G (p.His488Gln)
c.642C>G (p.His214Gln)
n.3657C>G
c.3684C>G (p.His1228Gln)
c.3612C>G (p.His1204Gln)
c.3474C>G (p.His1158Gln)
c.1560C>G (p.His520Gln)
16g.2111603G=CA2202047707PKD1c.3564C= (p.His1188=)
n.310+737C=
n.430+737C=
n.514C=
c.233+213C=
n.790+737C=
c.473-3245C=
n.773+737C=
c.2226+737C= (n.2226+737C=)
n.421+737C=
c.519C= (p.His173=)
c.3642C= (p.His1214=)
c.3618C= (p.His1206=)
c.3588C= (p.His1196=)
c.3570C= (p.His1190=)
c.3516C= (p.His1172=)
c.3435C= (p.His1145=)
c.3378C= (p.His1126=)
c.1464C= (p.His488=)
c.642C= (p.His214=)
n.3657C=
c.3684C= (p.His1228=)
c.3612C= (p.His1204=)
c.3474C= (p.His1158=)
c.1560C= (p.His520=)
16g.2111603G>TCA394382849PKD1c.3564C>A (p.His1188Gln)
n.310+737C>A
n.430+737C>A
n.514C>A
c.233+213C>A
n.790+737C>A
c.473-3245C>A
n.773+737C>A
c.2226+737C>A (n.2226+737C>A)
n.421+737C>A
c.519C>A (p.His173Gln)
c.3642C>A (p.His1214Gln)
c.3618C>A (p.His1206Gln)
c.3588C>A (p.His1196Gln)
c.3570C>A (p.His1190Gln)
c.3516C>A (p.His1172Gln)
c.3435C>A (p.His1145Gln)
c.3378C>A (p.His1126Gln)
c.1464C>A (p.His488Gln)
c.642C>A (p.His214Gln)
n.3657C>A
c.3684C>A (p.His1228Gln)
c.3612C>A (p.His1204Gln)
c.3474C>A (p.His1158Gln)
c.1560C>A (p.His520Gln)
 gnomAD v4
16g.2111604T>ACA394382850PKD1c.3563A>T (p.His1188Leu)
n.310+736A>T
n.430+736A>T
n.513A>T
c.233+212A>T
n.790+736A>T
c.473-3246A>T
n.773+736A>T
c.2226+736A>T (n.2226+736A>T)
n.421+736A>T
c.518A>T (p.His173Leu)
c.3641A>T (p.His1214Leu)
c.3617A>T (p.His1206Leu)
c.3587A>T (p.His1196Leu)
c.3569A>T (p.His1190Leu)
c.3515A>T (p.His1172Leu)
c.3434A>T (p.His1145Leu)
c.3377A>T (p.His1126Leu)
c.1463A>T (p.His488Leu)
c.641A>T (p.His214Leu)
n.3656A>T
c.3683A>T (p.His1228Leu)
c.3611A>T (p.His1204Leu)
c.3473A>T (p.His1158Leu)
c.1559A>T (p.His520Leu)
16g.2111604T>CCA394382851PKD1c.3563A>G (p.His1188Arg)
n.310+736A>G
n.430+736A>G
n.513A>G
c.233+212A>G
n.790+736A>G
c.473-3246A>G
n.773+736A>G
c.2226+736A>G (n.2226+736A>G)
n.421+736A>G
c.518A>G (p.His173Arg)
c.3641A>G (p.His1214Arg)
c.3617A>G (p.His1206Arg)
c.3587A>G (p.His1196Arg)
c.3569A>G (p.His1190Arg)
c.3515A>G (p.His1172Arg)
c.3434A>G (p.His1145Arg)
c.3377A>G (p.His1126Arg)
c.1463A>G (p.His488Arg)
c.641A>G (p.His214Arg)
n.3656A>G
c.3683A>G (p.His1228Arg)
c.3611A>G (p.His1204Arg)
c.3473A>G (p.His1158Arg)
c.1559A>G (p.His520Arg)
 dbSNP gnomAD v3 gnomAD v4
16g.2111604T>GCA394382852PKD1c.3563A>C (p.His1188Pro)
n.310+736A>C
n.430+736A>C
n.513A>C
c.233+212A>C
n.790+736A>C
c.473-3246A>C
n.773+736A>C
c.2226+736A>C (n.2226+736A>C)
n.421+736A>C
c.518A>C (p.His173Pro)
c.3641A>C (p.His1214Pro)
c.3617A>C (p.His1206Pro)
c.3587A>C (p.His1196Pro)
c.3569A>C (p.His1190Pro)
c.3515A>C (p.His1172Pro)
c.3434A>C (p.His1145Pro)
c.3377A>C (p.His1126Pro)
c.1463A>C (p.His488Pro)
c.641A>C (p.His214Pro)
n.3656A>C
c.3683A>C (p.His1228Pro)
c.3611A>C (p.His1204Pro)
c.3473A>C (p.His1158Pro)
c.1559A>C (p.His520Pro)
16g.2111604T=CA2202047708PKD1c.3563A= (p.His1188=)
n.310+736A=
n.430+736A=
n.513A=
c.233+212A=
n.790+736A=
c.473-3246A=
n.773+736A=
c.2226+736A= (n.2226+736A=)
n.421+736A=
c.518A= (p.His173=)
c.3641A= (p.His1214=)
c.3617A= (p.His1206=)
c.3587A= (p.His1196=)
c.3569A= (p.His1190=)
c.3515A= (p.His1172=)
c.3434A= (p.His1145=)
c.3377A= (p.His1126=)
c.1463A= (p.His488=)
c.641A= (p.His214=)
n.3656A=
c.3683A= (p.His1228=)
c.3611A= (p.His1204=)
c.3473A= (p.His1158=)
c.1559A= (p.His520=)
16g.2111605G>ACA394382853PKD1c.3562C>T (p.His1188Tyr)
n.310+735C>T
n.430+735C>T
n.512C>T
c.233+211C>T
n.790+735C>T
c.473-3247C>T
n.773+735C>T
c.2226+735C>T (n.2226+735C>T)
n.421+735C>T
c.517C>T (p.His173Tyr)
c.3640C>T (p.His1214Tyr)
c.3616C>T (p.His1206Tyr)
c.3586C>T (p.His1196Tyr)
c.3568C>T (p.His1190Tyr)
c.3514C>T (p.His1172Tyr)
c.3433C>T (p.His1145Tyr)
c.3376C>T (p.His1126Tyr)
c.1462C>T (p.His488Tyr)
c.640C>T (p.His214Tyr)
n.3655C>T
c.3682C>T (p.His1228Tyr)
c.3610C>T (p.His1204Tyr)
c.3472C>T (p.His1158Tyr)
c.1558C>T (p.His520Tyr)
 gnomAD v4
16g.2111605G>CCA394382855PKD1c.3562C>G (p.His1188Asp)
n.310+735C>G
n.430+735C>G
n.512C>G
c.233+211C>G
n.790+735C>G
c.473-3247C>G
n.773+735C>G
c.2226+735C>G (n.2226+735C>G)
n.421+735C>G
c.517C>G (p.His173Asp)
c.3640C>G (p.His1214Asp)
c.3616C>G (p.His1206Asp)
c.3586C>G (p.His1196Asp)
c.3568C>G (p.His1190Asp)
c.3514C>G (p.His1172Asp)
c.3433C>G (p.His1145Asp)
c.3376C>G (p.His1126Asp)
c.1462C>G (p.His488Asp)
c.640C>G (p.His214Asp)
n.3655C>G
c.3682C>G (p.His1228Asp)
c.3610C>G (p.His1204Asp)
c.3472C>G (p.His1158Asp)
c.1558C>G (p.His520Asp)
16g.2111605G>TCA394382854PKD1c.3562C>A (p.His1188Asn)
n.310+735C>A
n.430+735C>A
n.512C>A
c.233+211C>A
n.790+735C>A
c.473-3247C>A
n.773+735C>A
c.2226+735C>A (n.2226+735C>A)
n.421+735C>A
c.517C>A (p.His173Asn)
c.3640C>A (p.His1214Asn)
c.3616C>A (p.His1206Asn)
c.3586C>A (p.His1196Asn)
c.3568C>A (p.His1190Asn)
c.3514C>A (p.His1172Asn)
c.3433C>A (p.His1145Asn)
c.3376C>A (p.His1126Asn)
c.1462C>A (p.His488Asn)
c.640C>A (p.His214Asn)
n.3655C>A
c.3682C>A (p.His1228Asn)
c.3610C>A (p.His1204Asn)
c.3472C>A (p.His1158Asn)
c.1558C>A (p.His520Asn)
 gnomAD v4
16g.2111606G>ACA493049350PKD1c.3561C>T (p.Tyr1187=)
n.310+734C>T
n.430+734C>T
n.511C>T
c.233+210C>T
n.790+734C>T
c.473-3248C>T
n.773+734C>T
c.2226+734C>T (n.2226+734C>T)
n.421+734C>T
c.516C>T (p.Tyr172=)
c.3639C>T (p.Tyr1213=)
c.3615C>T (p.Tyr1205=)
c.3585C>T (p.Tyr1195=)
c.3567C>T (p.Tyr1189=)
c.3513C>T (p.Tyr1171=)
c.3432C>T (p.Tyr1144=)
c.3375C>T (p.Tyr1125=)
c.1461C>T (p.Tyr487=)
c.639C>T (p.Tyr213=)
n.3654C>T
c.3681C>T (p.Tyr1227=)
c.3609C>T (p.Tyr1203=)
c.3471C>T (p.Tyr1157=)
c.1557C>T (p.Tyr519=)
 gnomAD v4
16g.2111606G>CCA394382856PKD1c.3561C>G (p.Tyr1187Ter)
n.310+734C>G
n.430+734C>G
n.511C>G
c.233+210C>G
n.790+734C>G
c.473-3248C>G
n.773+734C>G
c.2226+734C>G (n.2226+734C>G)
n.421+734C>G
c.516C>G (p.Tyr172Ter)
c.3639C>G (p.Tyr1213Ter)
c.3615C>G (p.Tyr1205Ter)
c.3585C>G (p.Tyr1195Ter)
c.3567C>G (p.Tyr1189Ter)
c.3513C>G (p.Tyr1171Ter)
c.3432C>G (p.Tyr1144Ter)
c.3375C>G (p.Tyr1125Ter)
c.1461C>G (p.Tyr487Ter)
c.639C>G (p.Tyr213Ter)
n.3654C>G
c.3681C>G (p.Tyr1227Ter)
c.3609C>G (p.Tyr1203Ter)
c.3471C>G (p.Tyr1157Ter)
c.1557C>G (p.Tyr519Ter)
 ClinVar dbSNP
16g.2111606G>TCA394382857PKD1c.3561C>A (p.Tyr1187Ter)
n.310+734C>A
n.430+734C>A
n.511C>A
c.233+210C>A
n.790+734C>A
c.473-3248C>A
n.773+734C>A
c.2226+734C>A (n.2226+734C>A)
n.421+734C>A
c.516C>A (p.Tyr172Ter)
c.3639C>A (p.Tyr1213Ter)
c.3615C>A (p.Tyr1205Ter)
c.3585C>A (p.Tyr1195Ter)
c.3567C>A (p.Tyr1189Ter)
c.3513C>A (p.Tyr1171Ter)
c.3432C>A (p.Tyr1144Ter)
c.3375C>A (p.Tyr1125Ter)
c.1461C>A (p.Tyr487Ter)
c.639C>A (p.Tyr213Ter)
n.3654C>A
c.3681C>A (p.Tyr1227Ter)
c.3609C>A (p.Tyr1203Ter)
c.3471C>A (p.Tyr1157Ter)
c.1557C>A (p.Tyr519Ter)
 gnomAD v4
16g.2111607T>ACA394382858PKD1c.3560A>T (p.Tyr1187Phe)
n.310+733A>T
n.430+733A>T
n.510A>T
c.233+209A>T
n.790+733A>T
c.473-3249A>T
n.773+733A>T
c.2226+733A>T (n.2226+733A>T)
n.421+733A>T
c.515A>T (p.Tyr172Phe)
c.3638A>T (p.Tyr1213Phe)
c.3614A>T (p.Tyr1205Phe)
c.3584A>T (p.Tyr1195Phe)
c.3566A>T (p.Tyr1189Phe)
c.3512A>T (p.Tyr1171Phe)
c.3431A>T (p.Tyr1144Phe)
c.3374A>T (p.Tyr1125Phe)
c.1460A>T (p.Tyr487Phe)
c.638A>T (p.Tyr213Phe)
n.3653A>T
c.3680A>T (p.Tyr1227Phe)
c.3608A>T (p.Tyr1203Phe)
c.3470A>T (p.Tyr1157Phe)
c.1556A>T (p.Tyr519Phe)
16g.2111607T>CCA394382859PKD1c.3560A>G (p.Tyr1187Cys)
n.310+733A>G
n.430+733A>G
n.510A>G
c.233+209A>G
n.790+733A>G
c.473-3249A>G
n.773+733A>G
c.2226+733A>G (n.2226+733A>G)
n.421+733A>G
c.515A>G (p.Tyr172Cys)
c.3638A>G (p.Tyr1213Cys)
c.3614A>G (p.Tyr1205Cys)
c.3584A>G (p.Tyr1195Cys)
c.3566A>G (p.Tyr1189Cys)
c.3512A>G (p.Tyr1171Cys)
c.3431A>G (p.Tyr1144Cys)
c.3374A>G (p.Tyr1125Cys)
c.1460A>G (p.Tyr487Cys)
c.638A>G (p.Tyr213Cys)
n.3653A>G
c.3680A>G (p.Tyr1227Cys)
c.3608A>G (p.Tyr1203Cys)
c.3470A>G (p.Tyr1157Cys)
c.1556A>G (p.Tyr519Cys)
16g.2111607T>GCA394382860PKD1c.3560A>C (p.Tyr1187Ser)
n.310+733A>C
n.430+733A>C
n.510A>C
c.233+209A>C
n.790+733A>C
c.473-3249A>C
n.773+733A>C
c.2226+733A>C (n.2226+733A>C)
n.421+733A>C
c.515A>C (p.Tyr172Ser)
c.3638A>C (p.Tyr1213Ser)
c.3614A>C (p.Tyr1205Ser)
c.3584A>C (p.Tyr1195Ser)
c.3566A>C (p.Tyr1189Ser)
c.3512A>C (p.Tyr1171Ser)
c.3431A>C (p.Tyr1144Ser)
c.3374A>C (p.Tyr1125Ser)
c.1460A>C (p.Tyr487Ser)
c.638A>C (p.Tyr213Ser)
n.3653A>C
c.3680A>C (p.Tyr1227Ser)
c.3608A>C (p.Tyr1203Ser)
c.3470A>C (p.Tyr1157Ser)
c.1556A>C (p.Tyr519Ser)
 ClinVar
16g.2111608A=CA2202047709PKD1c.3559T= (p.Tyr1187=)
n.310+732T=
n.430+732T=
n.509T=
c.233+208T=
n.790+732T=
c.473-3250T=
n.773+732T=
c.2226+732T= (n.2226+732T=)
n.421+732T=
c.514T= (p.Tyr172=)
c.3637T= (p.Tyr1213=)
c.3613T= (p.Tyr1205=)
c.3583T= (p.Tyr1195=)
c.3565T= (p.Tyr1189=)
c.3511T= (p.Tyr1171=)
c.3430T= (p.Tyr1144=)
c.3373T= (p.Tyr1125=)
c.1459T= (p.Tyr487=)
c.637T= (p.Tyr213=)
n.3652T=
c.3679T= (p.Tyr1227=)
c.3607T= (p.Tyr1203=)
c.3469T= (p.Tyr1157=)
c.1555T= (p.Tyr519=)
16g.2111608A>CCA394382861PKD1c.3559T>G (p.Tyr1187Asp)
n.310+732T>G
n.430+732T>G
n.509T>G
c.233+208T>G
n.790+732T>G
c.473-3250T>G
n.773+732T>G
c.2226+732T>G (n.2226+732T>G)
n.421+732T>G
c.514T>G (p.Tyr172Asp)
c.3637T>G (p.Tyr1213Asp)
c.3613T>G (p.Tyr1205Asp)
c.3583T>G (p.Tyr1195Asp)
c.3565T>G (p.Tyr1189Asp)
c.3511T>G (p.Tyr1171Asp)
c.3430T>G (p.Tyr1144Asp)
c.3373T>G (p.Tyr1125Asp)
c.1459T>G (p.Tyr487Asp)
c.637T>G (p.Tyr213Asp)
n.3652T>G
c.3679T>G (p.Tyr1227Asp)
c.3607T>G (p.Tyr1203Asp)
c.3469T>G (p.Tyr1157Asp)
c.1555T>G (p.Tyr519Asp)
16g.2111608A>GCA394382863PKD1c.3559T>C (p.Tyr1187His)
n.310+732T>C
n.430+732T>C
n.509T>C
c.233+208T>C
n.790+732T>C
c.473-3250T>C
n.773+732T>C
c.2226+732T>C (n.2226+732T>C)
n.421+732T>C
c.514T>C (p.Tyr172His)
c.3637T>C (p.Tyr1213His)
c.3613T>C (p.Tyr1205His)
c.3583T>C (p.Tyr1195His)
c.3565T>C (p.Tyr1189His)
c.3511T>C (p.Tyr1171His)
c.3430T>C (p.Tyr1144His)
c.3373T>C (p.Tyr1125His)
c.1459T>C (p.Tyr487His)
c.637T>C (p.Tyr213His)
n.3652T>C
c.3679T>C (p.Tyr1227His)
c.3607T>C (p.Tyr1203His)
c.3469T>C (p.Tyr1157His)
c.1555T>C (p.Tyr519His)
 dbSNP gnomAD v2 gnomAD v4
16g.2111608A>TCA394382862PKD1c.3559T>A (p.Tyr1187Asn)
n.310+732T>A
n.430+732T>A
n.509T>A
c.233+208T>A
n.790+732T>A
c.473-3250T>A
n.773+732T>A
c.2226+732T>A (n.2226+732T>A)
n.421+732T>A
c.514T>A (p.Tyr172Asn)
c.3637T>A (p.Tyr1213Asn)
c.3613T>A (p.Tyr1205Asn)
c.3583T>A (p.Tyr1195Asn)
c.3565T>A (p.Tyr1189Asn)
c.3511T>A (p.Tyr1171Asn)
c.3430T>A (p.Tyr1144Asn)
c.3373T>A (p.Tyr1125Asn)
c.1459T>A (p.Tyr487Asn)
c.637T>A (p.Tyr213Asn)
n.3652T>A
c.3679T>A (p.Tyr1227Asn)
c.3607T>A (p.Tyr1203Asn)
c.3469T>A (p.Tyr1157Asn)
c.1555T>A (p.Tyr519Asn)
16g.2111609G>ACA493049353PKD1c.3558C>T (p.Thr1186=)
n.310+731C>T
n.430+731C>T
n.508C>T
c.233+207C>T
n.790+731C>T
c.473-3251C>T
n.773+731C>T
c.2226+731C>T (n.2226+731C>T)
n.421+731C>T
c.513C>T (p.Thr171=)
c.3636C>T (p.Thr1212=)
c.3612C>T (p.Thr1204=)
c.3582C>T (p.Thr1194=)
c.3564C>T (p.Thr1188=)
c.3510C>T (p.Thr1170=)
c.3429C>T (p.Thr1143=)
c.3372C>T (p.Thr1124=)
c.1458C>T (p.Thr486=)
c.636C>T (p.Thr212=)
n.3651C>T
c.3678C>T (p.Thr1226=)
c.3606C>T (p.Thr1202=)
c.3468C>T (p.Thr1156=)
c.1554C>T (p.Thr518=)
 gnomAD v4
16g.2111609G>CCA493049355PKD1c.3558C>G (p.Thr1186=)
n.310+731C>G
n.430+731C>G
n.508C>G
c.233+207C>G
n.790+731C>G
c.473-3251C>G
n.773+731C>G
c.2226+731C>G (n.2226+731C>G)
n.421+731C>G
c.513C>G (p.Thr171=)
c.3636C>G (p.Thr1212=)
c.3612C>G (p.Thr1204=)
c.3582C>G (p.Thr1194=)
c.3564C>G (p.Thr1188=)
c.3510C>G (p.Thr1170=)
c.3429C>G (p.Thr1143=)
c.3372C>G (p.Thr1124=)
c.1458C>G (p.Thr486=)
c.636C>G (p.Thr212=)
n.3651C>G
c.3678C>G (p.Thr1226=)
c.3606C>G (p.Thr1202=)
c.3468C>G (p.Thr1156=)
c.1554C>G (p.Thr518=)
16g.2111609G>TCA493049357PKD1c.3558C>A (p.Thr1186=)
n.310+731C>A
n.430+731C>A
n.508C>A
c.233+207C>A
n.790+731C>A
c.473-3251C>A
n.773+731C>A
c.2226+731C>A (n.2226+731C>A)
n.421+731C>A
c.513C>A (p.Thr171=)
c.3636C>A (p.Thr1212=)
c.3612C>A (p.Thr1204=)
c.3582C>A (p.Thr1194=)
c.3564C>A (p.Thr1188=)
c.3510C>A (p.Thr1170=)
c.3429C>A (p.Thr1143=)
c.3372C>A (p.Thr1124=)
c.1458C>A (p.Thr486=)
c.636C>A (p.Thr212=)
n.3651C>A
c.3678C>A (p.Thr1226=)
c.3606C>A (p.Thr1202=)
c.3468C>A (p.Thr1156=)
c.1554C>A (p.Thr518=)
 gnomAD v4
16g.2111609_2111614delinsTAGGTGCACA2695222482PKD1c.3553_3558delinsTGCACCTA (p.Gly1185CysfsTer14)
n.310+726_310+731delinsTGCACCTA
n.430+726_430+731delinsTGCACCTA
n.503_508delinsTGCACCTA
c.233+202_233+207delinsTGCACCTA
n.790+726_790+731delinsTGCACCTA
c.473-3256_473-3251delinsTGCACCTA
n.773+726_773+731delinsTGCACCTA
c.2226+726_2226+731delinsTGCACCTA (n.2226+726_2226+731delinsTGCACCTA)
n.421+726_421+731delinsTGCACCTA
c.508_513delinsTGCACCTA (p.Gly170CysfsTer14)
c.3631_3636delinsTGCACCTA (p.Gly1211CysfsTer14)
c.3607_3612delinsTGCACCTA (p.Gly1203CysfsTer14)
c.3577_3582delinsTGCACCTA (p.Gly1193CysfsTer14)
c.3559_3564delinsTGCACCTA (p.Gly1187CysfsTer14)
c.3505_3510delinsTGCACCTA (p.Gly1169CysfsTer14)
c.3424_3429delinsTGCACCTA (p.Gly1142CysfsTer14)
c.3367_3372delinsTGCACCTA (p.Gly1123CysfsTer14)
c.1453_1458delinsTGCACCTA (p.Gly485CysfsTer14)
c.631_636delinsTGCACCTA (p.Gly211CysfsTer14)
n.3646_3651delinsTGCACCTA
c.3673_3678delinsTGCACCTA (p.Gly1225CysfsTer14)
c.3601_3606delinsTGCACCTA (p.Gly1201CysfsTer14)
c.3463_3468delinsTGCACCTA (p.Gly1155CysfsTer14)
c.1549_1554delinsTGCACCTA (p.Gly517CysfsTer14)
16g.2111610G>ACA394382864PKD1c.3557C>T (p.Thr1186Ile)
n.310+730C>T
n.430+730C>T
n.507C>T
c.233+206C>T
n.790+730C>T
c.473-3252C>T
n.773+730C>T
c.2226+730C>T (n.2226+730C>T)
n.421+730C>T
c.512C>T (p.Thr171Ile)
c.3635C>T (p.Thr1212Ile)
c.3611C>T (p.Thr1204Ile)
c.3581C>T (p.Thr1194Ile)
c.3563C>T (p.Thr1188Ile)
c.3509C>T (p.Thr1170Ile)
c.3428C>T (p.Thr1143Ile)
c.3371C>T (p.Thr1124Ile)
c.1457C>T (p.Thr486Ile)
c.635C>T (p.Thr212Ile)
n.3650C>T
c.3677C>T (p.Thr1226Ile)
c.3605C>T (p.Thr1202Ile)
c.3467C>T (p.Thr1156Ile)
c.1553C>T (p.Thr518Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2111610G>CCA394382865PKD1c.3557C>G (p.Thr1186Ser)
n.310+730C>G
n.430+730C>G
n.507C>G
c.233+206C>G
n.790+730C>G
c.473-3252C>G
n.773+730C>G
c.2226+730C>G (n.2226+730C>G)
n.421+730C>G
c.512C>G (p.Thr171Ser)
c.3635C>G (p.Thr1212Ser)
c.3611C>G (p.Thr1204Ser)
c.3581C>G (p.Thr1194Ser)
c.3563C>G (p.Thr1188Ser)
c.3509C>G (p.Thr1170Ser)
c.3428C>G (p.Thr1143Ser)
c.3371C>G (p.Thr1124Ser)
c.1457C>G (p.Thr486Ser)
c.635C>G (p.Thr212Ser)
n.3650C>G
c.3677C>G (p.Thr1226Ser)
c.3605C>G (p.Thr1202Ser)
c.3467C>G (p.Thr1156Ser)
c.1553C>G (p.Thr518Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.2111610G=CA2202047710PKD1c.3557C= (p.Thr1186=)
n.310+730C=
n.430+730C=
n.507C=
c.233+206C=
n.790+730C=
c.473-3252C=
n.773+730C=
c.2226+730C= (n.2226+730C=)
n.421+730C=
c.512C= (p.Thr171=)
c.3635C= (p.Thr1212=)
c.3611C= (p.Thr1204=)
c.3581C= (p.Thr1194=)
c.3563C= (p.Thr1188=)
c.3509C= (p.Thr1170=)
c.3428C= (p.Thr1143=)
c.3371C= (p.Thr1124=)
c.1457C= (p.Thr486=)
c.635C= (p.Thr212=)
n.3650C=
c.3677C= (p.Thr1226=)
c.3605C= (p.Thr1202=)
c.3467C= (p.Thr1156=)
c.1553C= (p.Thr518=)
16g.2111610G>TCA394382866PKD1c.3557C>A (p.Thr1186Asn)
n.310+730C>A
n.430+730C>A
n.507C>A
c.233+206C>A
n.790+730C>A
c.473-3252C>A
n.773+730C>A
c.2226+730C>A (n.2226+730C>A)
n.421+730C>A
c.512C>A (p.Thr171Asn)
c.3635C>A (p.Thr1212Asn)
c.3611C>A (p.Thr1204Asn)
c.3581C>A (p.Thr1194Asn)
c.3563C>A (p.Thr1188Asn)
c.3509C>A (p.Thr1170Asn)
c.3428C>A (p.Thr1143Asn)
c.3371C>A (p.Thr1124Asn)
c.1457C>A (p.Thr486Asn)
c.635C>A (p.Thr212Asn)
n.3650C>A
c.3677C>A (p.Thr1226Asn)
c.3605C>A (p.Thr1202Asn)
c.3467C>A (p.Thr1156Asn)
c.1553C>A (p.Thr518Asn)
16g.2111611T>ACA394382867PKD1c.3556A>T (p.Thr1186Ser)
n.310+729A>T
n.430+729A>T
n.506A>T
c.233+205A>T
n.790+729A>T
c.473-3253A>T
n.773+729A>T
c.2226+729A>T (n.2226+729A>T)
n.421+729A>T
c.511A>T (p.Thr171Ser)
c.3634A>T (p.Thr1212Ser)
c.3610A>T (p.Thr1204Ser)
c.3580A>T (p.Thr1194Ser)
c.3562A>T (p.Thr1188Ser)
c.3508A>T (p.Thr1170Ser)
c.3427A>T (p.Thr1143Ser)
c.3370A>T (p.Thr1124Ser)
c.1456A>T (p.Thr486Ser)
c.634A>T (p.Thr212Ser)
n.3649A>T
c.3676A>T (p.Thr1226Ser)
c.3604A>T (p.Thr1202Ser)
c.3466A>T (p.Thr1156Ser)
c.1552A>T (p.Thr518Ser)
16g.2111611T>CCA7832727PKD1c.3556A>G (p.Thr1186Ala)
n.310+729A>G
n.430+729A>G
n.506A>G
c.233+205A>G
n.790+729A>G
c.473-3253A>G
n.773+729A>G
c.2226+729A>G (n.2226+729A>G)
n.421+729A>G
c.511A>G (p.Thr171Ala)
c.3634A>G (p.Thr1212Ala)
c.3610A>G (p.Thr1204Ala)
c.3580A>G (p.Thr1194Ala)
c.3562A>G (p.Thr1188Ala)
c.3508A>G (p.Thr1170Ala)
c.3427A>G (p.Thr1143Ala)
c.3370A>G (p.Thr1124Ala)
c.1456A>G (p.Thr486Ala)
c.634A>G (p.Thr212Ala)
n.3649A>G
c.3676A>G (p.Thr1226Ala)
c.3604A>G (p.Thr1202Ala)
c.3466A>G (p.Thr1156Ala)
c.1552A>G (p.Thr518Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2111611T>GCA394382868PKD1c.3556A>C (p.Thr1186Pro)
n.310+729A>C
n.430+729A>C
n.506A>C
c.233+205A>C
n.790+729A>C
c.473-3253A>C
n.773+729A>C
c.2226+729A>C (n.2226+729A>C)
n.421+729A>C
c.511A>C (p.Thr171Pro)
c.3634A>C (p.Thr1212Pro)
c.3610A>C (p.Thr1204Pro)
c.3580A>C (p.Thr1194Pro)
c.3562A>C (p.Thr1188Pro)
c.3508A>C (p.Thr1170Pro)
c.3427A>C (p.Thr1143Pro)
c.3370A>C (p.Thr1124Pro)
c.1456A>C (p.Thr486Pro)
c.634A>C (p.Thr212Pro)
n.3649A>C
c.3676A>C (p.Thr1226Pro)
c.3604A>C (p.Thr1202Pro)
c.3466A>C (p.Thr1156Pro)
c.1552A>C (p.Thr518Pro)
16g.2111611T=CA2202047711PKD1c.3556A= (p.Thr1186=)
n.310+729A=
n.430+729A=
n.506A=
c.233+205A=
n.790+729A=
c.473-3253A=
n.773+729A=
c.2226+729A= (n.2226+729A=)
n.421+729A=
c.511A= (p.Thr171=)
c.3634A= (p.Thr1212=)
c.3610A= (p.Thr1204=)
c.3580A= (p.Thr1194=)
c.3562A= (p.Thr1188=)
c.3508A= (p.Thr1170=)
c.3427A= (p.Thr1143=)
c.3370A= (p.Thr1124=)
c.1456A= (p.Thr486=)
c.634A= (p.Thr212=)
n.3649A=
c.3676A= (p.Thr1226=)
c.3604A= (p.Thr1202=)
c.3466A= (p.Thr1156=)
c.1552A= (p.Thr518=)
16g.2111612G>ACA493049563PKD1c.3555C>T (p.Gly1185=)
n.310+728C>T
n.430+728C>T
n.505C>T
c.233+204C>T
n.790+728C>T
c.473-3254C>T
n.773+728C>T
c.2226+728C>T (n.2226+728C>T)
n.421+728C>T
c.510C>T (p.Gly170=)
c.3633C>T (p.Gly1211=)
c.3609C>T (p.Gly1203=)
c.3579C>T (p.Gly1193=)
c.3561C>T (p.Gly1187=)
c.3507C>T (p.Gly1169=)
c.3426C>T (p.Gly1142=)
c.3369C>T (p.Gly1123=)
c.1455C>T (p.Gly485=)
c.633C>T (p.Gly211=)
n.3648C>T
c.3675C>T (p.Gly1225=)
c.3603C>T (p.Gly1201=)
c.3465C>T (p.Gly1155=)
c.1551C>T (p.Gly517=)
 gnomAD v4
16g.2111612G>CCA493049568PKD1c.3555C>G (p.Gly1185=)
n.310+728C>G
n.430+728C>G
n.505C>G
c.233+204C>G
n.790+728C>G
c.473-3254C>G
n.773+728C>G
c.2226+728C>G (n.2226+728C>G)
n.421+728C>G
c.510C>G (p.Gly170=)
c.3633C>G (p.Gly1211=)
c.3609C>G (p.Gly1203=)
c.3579C>G (p.Gly1193=)
c.3561C>G (p.Gly1187=)
c.3507C>G (p.Gly1169=)
c.3426C>G (p.Gly1142=)
c.3369C>G (p.Gly1123=)
c.1455C>G (p.Gly485=)
c.633C>G (p.Gly211=)
n.3648C>G
c.3675C>G (p.Gly1225=)
c.3603C>G (p.Gly1201=)
c.3465C>G (p.Gly1155=)
c.1551C>G (p.Gly517=)
16g.2111612G>TCA493049571PKD1c.3555C>A (p.Gly1185=)
n.310+728C>A
n.430+728C>A
n.505C>A
c.233+204C>A
n.790+728C>A
c.473-3254C>A
n.773+728C>A
c.2226+728C>A (n.2226+728C>A)
n.421+728C>A
c.510C>A (p.Gly170=)
c.3633C>A (p.Gly1211=)
c.3609C>A (p.Gly1203=)
c.3579C>A (p.Gly1193=)
c.3561C>A (p.Gly1187=)
c.3507C>A (p.Gly1169=)
c.3426C>A (p.Gly1142=)
c.3369C>A (p.Gly1123=)
c.1455C>A (p.Gly485=)
c.633C>A (p.Gly211=)
n.3648C>A
c.3675C>A (p.Gly1225=)
c.3603C>A (p.Gly1201=)
c.3465C>A (p.Gly1155=)
c.1551C>A (p.Gly517=)
 gnomAD v4
16g.2111613C>ACA394382869PKD1c.3554G>T (p.Gly1185Val)
n.310+727G>T
n.430+727G>T
n.504G>T
c.233+203G>T
n.790+727G>T
c.473-3255G>T
n.773+727G>T
c.2226+727G>T (n.2226+727G>T)
n.421+727G>T
c.509G>T (p.Gly170Val)
c.3632G>T (p.Gly1211Val)
c.3608G>T (p.Gly1203Val)
c.3578G>T (p.Gly1193Val)
c.3560G>T (p.Gly1187Val)
c.3506G>T (p.Gly1169Val)
c.3425G>T (p.Gly1142Val)
c.3368G>T (p.Gly1123Val)
c.1454G>T (p.Gly485Val)
c.632G>T (p.Gly211Val)
n.3647G>T
c.3674G>T (p.Gly1225Val)
c.3602G>T (p.Gly1201Val)
c.3464G>T (p.Gly1155Val)
c.1550G>T (p.Gly517Val)
 dbSNP gnomAD v2
16g.2111613C=CA2202047712PKD1c.3554G= (p.Gly1185=)
n.310+727G=
n.430+727G=
n.504G=
c.233+203G=
n.790+727G=
c.473-3255G=
n.773+727G=
c.2226+727G= (n.2226+727G=)
n.421+727G=
c.509G= (p.Gly170=)
c.3632G= (p.Gly1211=)
c.3608G= (p.Gly1203=)
c.3578G= (p.Gly1193=)
c.3560G= (p.Gly1187=)
c.3506G= (p.Gly1169=)
c.3425G= (p.Gly1142=)
c.3368G= (p.Gly1123=)
c.1454G= (p.Gly485=)
c.632G= (p.Gly211=)
n.3647G=
c.3674G= (p.Gly1225=)
c.3602G= (p.Gly1201=)
c.3464G= (p.Gly1155=)
c.1550G= (p.Gly517=)
16g.2111613C>GCA394382870PKD1c.3554G>C (p.Gly1185Ala)
n.310+727G>C
n.430+727G>C
n.504G>C
c.233+203G>C
n.790+727G>C
c.473-3255G>C
n.773+727G>C
c.2226+727G>C (n.2226+727G>C)
n.421+727G>C
c.509G>C (p.Gly170Ala)
c.3632G>C (p.Gly1211Ala)
c.3608G>C (p.Gly1203Ala)
c.3578G>C (p.Gly1193Ala)
c.3560G>C (p.Gly1187Ala)
c.3506G>C (p.Gly1169Ala)
c.3425G>C (p.Gly1142Ala)
c.3368G>C (p.Gly1123Ala)
c.1454G>C (p.Gly485Ala)
c.632G>C (p.Gly211Ala)
n.3647G>C
c.3674G>C (p.Gly1225Ala)
c.3602G>C (p.Gly1201Ala)
c.3464G>C (p.Gly1155Ala)
c.1550G>C (p.Gly517Ala)
16g.2111613C>TCA276781903PKD1c.3554G>A (p.Gly1185Asp)
n.310+727G>A
n.430+727G>A
n.504G>A
c.233+203G>A
n.790+727G>A
c.473-3255G>A
n.773+727G>A
c.2226+727G>A (n.2226+727G>A)
n.421+727G>A
c.509G>A (p.Gly170Asp)
c.3632G>A (p.Gly1211Asp)
c.3608G>A (p.Gly1203Asp)
c.3578G>A (p.Gly1193Asp)
c.3560G>A (p.Gly1187Asp)
c.3506G>A (p.Gly1169Asp)
c.3425G>A (p.Gly1142Asp)
c.3368G>A (p.Gly1123Asp)
c.1454G>A (p.Gly485Asp)
c.632G>A (p.Gly211Asp)
n.3647G>A
c.3674G>A (p.Gly1225Asp)
c.3602G>A (p.Gly1201Asp)
c.3464G>A (p.Gly1155Asp)
c.1550G>A (p.Gly517Asp)
 dbSNP gnomAD v4
16g.2111614C>ACA394382871PKD1c.3553G>T (p.Gly1185Cys)
n.310+726G>T
n.430+726G>T
n.503G>T
c.233+202G>T
n.790+726G>T
c.473-3256G>T
n.773+726G>T
c.2226+726G>T (n.2226+726G>T)
n.421+726G>T
c.508G>T (p.Gly170Cys)
c.3631G>T (p.Gly1211Cys)
c.3607G>T (p.Gly1203Cys)
c.3577G>T (p.Gly1193Cys)
c.3559G>T (p.Gly1187Cys)
c.3505G>T (p.Gly1169Cys)
c.3424G>T (p.Gly1142Cys)
c.3367G>T (p.Gly1123Cys)
c.1453G>T (p.Gly485Cys)
c.631G>T (p.Gly211Cys)
n.3646G>T
c.3673G>T (p.Gly1225Cys)
c.3601G>T (p.Gly1201Cys)
c.3463G>T (p.Gly1155Cys)
c.1549G>T (p.Gly517Cys)
 gnomAD v4
16g.2111614C=CA2202047713PKD1c.3553G= (p.Gly1185=)
n.310+726G=
n.430+726G=
n.503G=
c.233+202G=
n.790+726G=
c.473-3256G=
n.773+726G=
c.2226+726G= (n.2226+726G=)
n.421+726G=
c.508G= (p.Gly170=)
c.3631G= (p.Gly1211=)
c.3607G= (p.Gly1203=)
c.3577G= (p.Gly1193=)
c.3559G= (p.Gly1187=)
c.3505G= (p.Gly1169=)
c.3424G= (p.Gly1142=)
c.3367G= (p.Gly1123=)
c.1453G= (p.Gly485=)
c.631G= (p.Gly211=)
n.3646G=
c.3673G= (p.Gly1225=)
c.3601G= (p.Gly1201=)
c.3463G= (p.Gly1155=)
c.1549G= (p.Gly517=)
16g.2111614C>GCA394382872PKD1c.3553G>C (p.Gly1185Arg)
n.310+726G>C
n.430+726G>C
n.503G>C
c.233+202G>C
n.790+726G>C
c.473-3256G>C
n.773+726G>C
c.2226+726G>C (n.2226+726G>C)
n.421+726G>C
c.508G>C (p.Gly170Arg)
c.3631G>C (p.Gly1211Arg)
c.3607G>C (p.Gly1203Arg)
c.3577G>C (p.Gly1193Arg)
c.3559G>C (p.Gly1187Arg)
c.3505G>C (p.Gly1169Arg)
c.3424G>C (p.Gly1142Arg)
c.3367G>C (p.Gly1123Arg)
c.1453G>C (p.Gly485Arg)
c.631G>C (p.Gly211Arg)
n.3646G>C
c.3673G>C (p.Gly1225Arg)
c.3601G>C (p.Gly1201Arg)
c.3463G>C (p.Gly1155Arg)
c.1549G>C (p.Gly517Arg)
16g.2111614C>TCA276781904PKD1c.3553G>A (p.Gly1185Ser)
n.310+726G>A
n.430+726G>A
n.503G>A
c.233+202G>A
n.790+726G>A
c.473-3256G>A
n.773+726G>A
c.2226+726G>A (n.2226+726G>A)
n.421+726G>A
c.508G>A (p.Gly170Ser)
c.3631G>A (p.Gly1211Ser)
c.3607G>A (p.Gly1203Ser)
c.3577G>A (p.Gly1193Ser)
c.3559G>A (p.Gly1187Ser)
c.3505G>A (p.Gly1169Ser)
c.3424G>A (p.Gly1142Ser)
c.3367G>A (p.Gly1123Ser)
c.1453G>A (p.Gly485Ser)
c.631G>A (p.Gly211Ser)
n.3646G>A
c.3673G>A (p.Gly1225Ser)
c.3601G>A (p.Gly1201Ser)
c.3463G>A (p.Gly1155Ser)
c.1549G>A (p.Gly517Ser)
 dbSNP gnomAD v4
16g.2111615C>ACA394382873PKD1c.3552G>T (p.Arg1184Ser)
n.310+725G>T
n.430+725G>T
n.502G>T
c.233+201G>T
n.790+725G>T
c.473-3257G>T
n.773+725G>T
c.2226+725G>T (n.2226+725G>T)
n.421+725G>T
c.507G>T (p.Arg169Ser)
c.3630G>T (p.Arg1210Ser)
c.3606G>T (p.Arg1202Ser)
c.3576G>T (p.Arg1192Ser)
c.3558G>T (p.Arg1186Ser)
c.3504G>T (p.Arg1168Ser)
c.3423G>T (p.Arg1141Ser)
c.3366G>T (p.Arg1122Ser)
c.1452G>T (p.Arg484Ser)
c.630G>T (p.Arg210Ser)
n.3645G>T
c.3672G>T (p.Arg1224Ser)
c.3600G>T (p.Arg1200Ser)
c.3462G>T (p.Arg1154Ser)
c.1548G>T (p.Arg516Ser)
 gnomAD v4
16g.2111615C=CA2202047714PKD1c.3552G= (p.Arg1184=)
n.310+725G=
n.430+725G=
n.502G=
c.233+201G=
n.790+725G=
c.473-3257G=
n.773+725G=
c.2226+725G= (n.2226+725G=)
n.421+725G=
c.507G= (p.Arg169=)
c.3630G= (p.Arg1210=)
c.3606G= (p.Arg1202=)
c.3576G= (p.Arg1192=)
c.3558G= (p.Arg1186=)
c.3504G= (p.Arg1168=)
c.3423G= (p.Arg1141=)
c.3366G= (p.Arg1122=)
c.1452G= (p.Arg484=)
c.630G= (p.Arg210=)
n.3645G=
c.3672G= (p.Arg1224=)
c.3600G= (p.Arg1200=)
c.3462G= (p.Arg1154=)
c.1548G= (p.Arg516=)
16g.2111615C>GCA394382874PKD1c.3552G>C (p.Arg1184Ser)
n.310+725G>C
n.430+725G>C
n.502G>C
c.233+201G>C
n.790+725G>C
c.473-3257G>C
n.773+725G>C
c.2226+725G>C (n.2226+725G>C)
n.421+725G>C
c.507G>C (p.Arg169Ser)
c.3630G>C (p.Arg1210Ser)
c.3606G>C (p.Arg1202Ser)
c.3576G>C (p.Arg1192Ser)
c.3558G>C (p.Arg1186Ser)
c.3504G>C (p.Arg1168Ser)
c.3423G>C (p.Arg1141Ser)
c.3366G>C (p.Arg1122Ser)
c.1452G>C (p.Arg484Ser)
c.630G>C (p.Arg210Ser)
n.3645G>C
c.3672G>C (p.Arg1224Ser)
c.3600G>C (p.Arg1200Ser)
c.3462G>C (p.Arg1154Ser)
c.1548G>C (p.Arg516Ser)
16g.2111615C>TCA7832728PKD1c.3552G>A (p.Arg1184=)
n.310+725G>A
n.430+725G>A
n.502G>A
c.233+201G>A
n.790+725G>A
c.473-3257G>A
n.773+725G>A
c.2226+725G>A (n.2226+725G>A)
n.421+725G>A
c.507G>A (p.Arg169=)
c.3630G>A (p.Arg1210=)
c.3606G>A (p.Arg1202=)
c.3576G>A (p.Arg1192=)
c.3558G>A (p.Arg1186=)
c.3504G>A (p.Arg1168=)
c.3423G>A (p.Arg1141=)
c.3366G>A (p.Arg1122=)
c.1452G>A (p.Arg484=)
c.630G>A (p.Arg210=)
n.3645G>A
c.3672G>A (p.Arg1224=)
c.3600G>A (p.Arg1200=)
c.3462G>A (p.Arg1154=)
c.1548G>A (p.Arg516=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2111616C>ACA394382875PKD1c.3551G>T (p.Arg1184Met)
n.310+724G>T
n.430+724G>T
n.501G>T
c.233+200G>T
n.790+724G>T
c.473-3258G>T
n.773+724G>T
c.2226+724G>T (n.2226+724G>T)
n.421+724G>T
c.506G>T (p.Arg169Met)
c.3629G>T (p.Arg1210Met)
c.3605G>T (p.Arg1202Met)
c.3575G>T (p.Arg1192Met)
c.3557G>T (p.Arg1186Met)
c.3503G>T (p.Arg1168Met)
c.3422G>T (p.Arg1141Met)
c.3365G>T (p.Arg1122Met)
c.1451G>T (p.Arg484Met)
c.629G>T (p.Arg210Met)
n.3644G>T
c.3671G>T (p.Arg1224Met)
c.3599G>T (p.Arg1200Met)
c.3461G>T (p.Arg1154Met)
c.1547G>T (p.Arg516Met)
 gnomAD v4
16g.2111616C=CA2202047715PKD1c.3551G= (p.Arg1184=)
n.310+724G=
n.430+724G=
n.501G=
c.233+200G=
n.790+724G=
c.473-3258G=
n.773+724G=
c.2226+724G= (n.2226+724G=)
n.421+724G=
c.506G= (p.Arg169=)
c.3629G= (p.Arg1210=)
c.3605G= (p.Arg1202=)
c.3575G= (p.Arg1192=)
c.3557G= (p.Arg1186=)
c.3503G= (p.Arg1168=)
c.3422G= (p.Arg1141=)
c.3365G= (p.Arg1122=)
c.1451G= (p.Arg484=)
c.629G= (p.Arg210=)
n.3644G=
c.3671G= (p.Arg1224=)
c.3599G= (p.Arg1200=)
c.3461G= (p.Arg1154=)
c.1547G= (p.Arg516=)
16g.2111616C>GCA394382876PKD1c.3551G>C (p.Arg1184Thr)
n.310+724G>C
n.430+724G>C
n.501G>C
c.233+200G>C
n.790+724G>C
c.473-3258G>C
n.773+724G>C
c.2226+724G>C (n.2226+724G>C)
n.421+724G>C
c.506G>C (p.Arg169Thr)
c.3629G>C (p.Arg1210Thr)
c.3605G>C (p.Arg1202Thr)
c.3575G>C (p.Arg1192Thr)
c.3557G>C (p.Arg1186Thr)
c.3503G>C (p.Arg1168Thr)
c.3422G>C (p.Arg1141Thr)
c.3365G>C (p.Arg1122Thr)
c.1451G>C (p.Arg484Thr)
c.629G>C (p.Arg210Thr)
n.3644G>C
c.3671G>C (p.Arg1224Thr)
c.3599G>C (p.Arg1200Thr)
c.3461G>C (p.Arg1154Thr)
c.1547G>C (p.Arg516Thr)
16g.2111616C>TCA394382877PKD1c.3551G>A (p.Arg1184Lys)
n.310+724G>A
n.430+724G>A
n.501G>A
c.233+200G>A
n.790+724G>A
c.473-3258G>A
n.773+724G>A
c.2226+724G>A (n.2226+724G>A)
n.421+724G>A
c.506G>A (p.Arg169Lys)
c.3629G>A (p.Arg1210Lys)
c.3605G>A (p.Arg1202Lys)
c.3575G>A (p.Arg1192Lys)
c.3557G>A (p.Arg1186Lys)
c.3503G>A (p.Arg1168Lys)
c.3422G>A (p.Arg1141Lys)
c.3365G>A (p.Arg1122Lys)
c.1451G>A (p.Arg484Lys)
c.629G>A (p.Arg210Lys)
n.3644G>A
c.3671G>A (p.Arg1224Lys)
c.3599G>A (p.Arg1200Lys)
c.3461G>A (p.Arg1154Lys)
c.1547G>A (p.Arg516Lys)
 dbSNP gnomAD v2 gnomAD v4
16g.2111617T>ACA394382878PKD1c.3550A>T (p.Arg1184Trp)
n.310+723A>T
n.430+723A>T
n.500A>T
c.233+199A>T
n.790+723A>T
c.473-3259A>T
n.773+723A>T
c.2226+723A>T (n.2226+723A>T)
n.421+723A>T
c.505A>T (p.Arg169Trp)
c.3628A>T (p.Arg1210Trp)
c.3604A>T (p.Arg1202Trp)
c.3574A>T (p.Arg1192Trp)
c.3556A>T (p.Arg1186Trp)
c.3502A>T (p.Arg1168Trp)
c.3421A>T (p.Arg1141Trp)
c.3364A>T (p.Arg1122Trp)
c.1450A>T (p.Arg484Trp)
c.628A>T (p.Arg210Trp)
n.3643A>T
c.3670A>T (p.Arg1224Trp)
c.3598A>T (p.Arg1200Trp)
c.3460A>T (p.Arg1154Trp)
c.1546A>T (p.Arg516Trp)
16g.2111617T>CCA394382879PKD1c.3550A>G (p.Arg1184Gly)
n.310+723A>G
n.430+723A>G
n.500A>G
c.233+199A>G
n.790+723A>G
c.473-3259A>G
n.773+723A>G
c.2226+723A>G (n.2226+723A>G)
n.421+723A>G
c.505A>G (p.Arg169Gly)
c.3628A>G (p.Arg1210Gly)
c.3604A>G (p.Arg1202Gly)
c.3574A>G (p.Arg1192Gly)
c.3556A>G (p.Arg1186Gly)
c.3502A>G (p.Arg1168Gly)
c.3421A>G (p.Arg1141Gly)
c.3364A>G (p.Arg1122Gly)
c.1450A>G (p.Arg484Gly)
c.628A>G (p.Arg210Gly)
n.3643A>G
c.3670A>G (p.Arg1224Gly)
c.3598A>G (p.Arg1200Gly)
c.3460A>G (p.Arg1154Gly)
c.1546A>G (p.Arg516Gly)
16g.2111617T>GCA493049589PKD1c.3550A>C (p.Arg1184=)
n.310+723A>C
n.430+723A>C
n.500A>C
c.233+199A>C
n.790+723A>C
c.473-3259A>C
n.773+723A>C
c.2226+723A>C (n.2226+723A>C)
n.421+723A>C
c.505A>C (p.Arg169=)
c.3628A>C (p.Arg1210=)
c.3604A>C (p.Arg1202=)
c.3574A>C (p.Arg1192=)
c.3556A>C (p.Arg1186=)
c.3502A>C (p.Arg1168=)
c.3421A>C (p.Arg1141=)
c.3364A>C (p.Arg1122=)
c.1450A>C (p.Arg484=)
c.628A>C (p.Arg210=)
n.3643A>C
c.3670A>C (p.Arg1224=)
c.3598A>C (p.Arg1200=)
c.3460A>C (p.Arg1154=)
c.1546A>C (p.Arg516=)
 gnomAD v4
16g.2111618C>ACA493049591PKD1c.3549G>T (p.Ser1183=)
n.310+722G>T
n.430+722G>T
n.499G>T
c.233+198G>T
n.790+722G>T
c.473-3260G>T
n.773+722G>T
c.2226+722G>T (n.2226+722G>T)
n.421+722G>T
c.504G>T (p.Ser168=)
c.3627G>T (p.Ser1209=)
c.3603G>T (p.Ser1201=)
c.3573G>T (p.Ser1191=)
c.3555G>T (p.Ser1185=)
c.3501G>T (p.Ser1167=)
c.3420G>T (p.Ser1140=)
c.3363G>T (p.Ser1121=)
c.1449G>T (p.Ser483=)
c.627G>T (p.Ser209=)
n.3642G>T
c.3669G>T (p.Ser1223=)
c.3597G>T (p.Ser1199=)
c.3459G>T (p.Ser1153=)
c.1545G>T (p.Ser515=)
 ClinVar gnomAD v4
16g.2111618C=CA2202047716PKD1c.3549G= (p.Ser1183=)
n.310+722G=
n.430+722G=
n.499G=
c.233+198G=
n.790+722G=
c.473-3260G=
n.773+722G=
c.2226+722G= (n.2226+722G=)
n.421+722G=
c.504G= (p.Ser168=)
c.3627G= (p.Ser1209=)
c.3603G= (p.Ser1201=)
c.3573G= (p.Ser1191=)
c.3555G= (p.Ser1185=)
c.3501G= (p.Ser1167=)
c.3420G= (p.Ser1140=)
c.3363G= (p.Ser1121=)
c.1449G= (p.Ser483=)
c.627G= (p.Ser209=)
n.3642G=
c.3669G= (p.Ser1223=)
c.3597G= (p.Ser1199=)
c.3459G= (p.Ser1153=)
c.1545G= (p.Ser515=)
16g.2111618C>GCA493049593PKD1c.3549G>C (p.Ser1183=)
n.310+722G>C
n.430+722G>C
n.499G>C
c.233+198G>C
n.790+722G>C
c.473-3260G>C
n.773+722G>C
c.2226+722G>C (n.2226+722G>C)
n.421+722G>C
c.504G>C (p.Ser168=)
c.3627G>C (p.Ser1209=)
c.3603G>C (p.Ser1201=)
c.3573G>C (p.Ser1191=)
c.3555G>C (p.Ser1185=)
c.3501G>C (p.Ser1167=)
c.3420G>C (p.Ser1140=)
c.3363G>C (p.Ser1121=)
c.1449G>C (p.Ser483=)
c.627G>C (p.Ser209=)
n.3642G>C
c.3669G>C (p.Ser1223=)
c.3597G>C (p.Ser1199=)
c.3459G>C (p.Ser1153=)
c.1545G>C (p.Ser515=)
16g.2111618C>TCA493049595PKD1c.3549G>A (p.Ser1183=)
n.310+722G>A
n.430+722G>A
n.499G>A
c.233+198G>A
n.790+722G>A
c.473-3260G>A
n.773+722G>A
c.2226+722G>A (n.2226+722G>A)
n.421+722G>A
c.504G>A (p.Ser168=)
c.3627G>A (p.Ser1209=)
c.3603G>A (p.Ser1201=)
c.3573G>A (p.Ser1191=)
c.3555G>A (p.Ser1185=)
c.3501G>A (p.Ser1167=)
c.3420G>A (p.Ser1140=)
c.3363G>A (p.Ser1121=)
c.1449G>A (p.Ser483=)
c.627G>A (p.Ser209=)
n.3642G>A
c.3669G>A (p.Ser1223=)
c.3597G>A (p.Ser1199=)
c.3459G>A (p.Ser1153=)
c.1545G>A (p.Ser515=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2111619G>ACA7832730PKD1c.3548C>T (p.Ser1183Leu)
n.310+721C>T
n.430+721C>T
n.498C>T
c.233+197C>T
n.790+721C>T
c.473-3261C>T
n.773+721C>T
c.2226+721C>T (n.2226+721C>T)
n.421+721C>T
c.503C>T (p.Ser168Leu)
c.3626C>T (p.Ser1209Leu)
c.3602C>T (p.Ser1201Leu)
c.3572C>T (p.Ser1191Leu)
c.3554C>T (p.Ser1185Leu)
c.3500C>T (p.Ser1167Leu)
c.3419C>T (p.Ser1140Leu)
c.3362C>T (p.Ser1121Leu)
c.1448C>T (p.Ser483Leu)
c.626C>T (p.Ser209Leu)
n.3641C>T
c.3668C>T (p.Ser1223Leu)
c.3596C>T (p.Ser1199Leu)
c.3458C>T (p.Ser1153Leu)
c.1544C>T (p.Ser515Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111619G>CCA7832729PKD1c.3548C>G (p.Ser1183Trp)
n.310+721C>G
n.430+721C>G
n.498C>G
c.233+197C>G
n.790+721C>G
c.473-3261C>G
n.773+721C>G
c.2226+721C>G (n.2226+721C>G)
n.421+721C>G
c.503C>G (p.Ser168Trp)
c.3626C>G (p.Ser1209Trp)
c.3602C>G (p.Ser1201Trp)
c.3572C>G (p.Ser1191Trp)
c.3554C>G (p.Ser1185Trp)
c.3500C>G (p.Ser1167Trp)
c.3419C>G (p.Ser1140Trp)
c.3362C>G (p.Ser1121Trp)
c.1448C>G (p.Ser483Trp)
c.626C>G (p.Ser209Trp)
n.3641C>G
c.3668C>G (p.Ser1223Trp)
c.3596C>G (p.Ser1199Trp)
c.3458C>G (p.Ser1153Trp)
c.1544C>G (p.Ser515Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111619G=CA2202047717PKD1c.3548C= (p.Ser1183=)
n.310+721C=
n.430+721C=
n.498C=
c.233+197C=
n.790+721C=
c.473-3261C=
n.773+721C=
c.2226+721C= (n.2226+721C=)
n.421+721C=
c.503C= (p.Ser168=)
c.3626C= (p.Ser1209=)
c.3602C= (p.Ser1201=)
c.3572C= (p.Ser1191=)
c.3554C= (p.Ser1185=)
c.3500C= (p.Ser1167=)
c.3419C= (p.Ser1140=)
c.3362C= (p.Ser1121=)
c.1448C= (p.Ser483=)
c.626C= (p.Ser209=)
n.3641C=
c.3668C= (p.Ser1223=)
c.3596C= (p.Ser1199=)
c.3458C= (p.Ser1153=)
c.1544C= (p.Ser515=)
16g.2111619G>TCA394382880PKD1c.3548C>A (p.Ser1183Ter)
n.310+721C>A
n.430+721C>A
n.498C>A
c.233+197C>A
n.790+721C>A
c.473-3261C>A
n.773+721C>A
c.2226+721C>A (n.2226+721C>A)
n.421+721C>A
c.503C>A (p.Ser168Ter)
c.3626C>A (p.Ser1209Ter)
c.3602C>A (p.Ser1201Ter)
c.3572C>A (p.Ser1191Ter)
c.3554C>A (p.Ser1185Ter)
c.3500C>A (p.Ser1167Ter)
c.3419C>A (p.Ser1140Ter)
c.3362C>A (p.Ser1121Ter)
c.1448C>A (p.Ser483Ter)
c.626C>A (p.Ser209Ter)
n.3641C>A
c.3668C>A (p.Ser1223Ter)
c.3596C>A (p.Ser1199Ter)
c.3458C>A (p.Ser1153Ter)
c.1544C>A (p.Ser515Ter)
 gnomAD v4
16g.2111620A>CCA394382881PKD1c.3547T>G (p.Ser1183Ala)
n.310+720T>G
n.430+720T>G
n.497T>G
c.233+196T>G
n.790+720T>G
c.473-3262T>G
n.773+720T>G
c.2226+720T>G (n.2226+720T>G)
n.421+720T>G
c.502T>G (p.Ser168Ala)
c.3625T>G (p.Ser1209Ala)
c.3601T>G (p.Ser1201Ala)
c.3571T>G (p.Ser1191Ala)
c.3553T>G (p.Ser1185Ala)
c.3499T>G (p.Ser1167Ala)
c.3418T>G (p.Ser1140Ala)
c.3361T>G (p.Ser1121Ala)
c.1447T>G (p.Ser483Ala)
c.625T>G (p.Ser209Ala)
n.3640T>G
c.3667T>G (p.Ser1223Ala)
c.3595T>G (p.Ser1199Ala)
c.3457T>G (p.Ser1153Ala)
c.1543T>G (p.Ser515Ala)
16g.2111620A>GCA394382882PKD1c.3547T>C (p.Ser1183Pro)
n.310+720T>C
n.430+720T>C
n.497T>C
c.233+196T>C
n.790+720T>C
c.473-3262T>C
n.773+720T>C
c.2226+720T>C (n.2226+720T>C)
n.421+720T>C
c.502T>C (p.Ser168Pro)
c.3625T>C (p.Ser1209Pro)
c.3601T>C (p.Ser1201Pro)
c.3571T>C (p.Ser1191Pro)
c.3553T>C (p.Ser1185Pro)
c.3499T>C (p.Ser1167Pro)
c.3418T>C (p.Ser1140Pro)
c.3361T>C (p.Ser1121Pro)
c.1447T>C (p.Ser483Pro)
c.625T>C (p.Ser209Pro)
n.3640T>C
c.3667T>C (p.Ser1223Pro)
c.3595T>C (p.Ser1199Pro)
c.3457T>C (p.Ser1153Pro)
c.1543T>C (p.Ser515Pro)
16g.2111620A>TCA394382883PKD1c.3547T>A (p.Ser1183Thr)
n.310+720T>A
n.430+720T>A
n.497T>A
c.233+196T>A
n.790+720T>A
c.473-3262T>A
n.773+720T>A
c.2226+720T>A (n.2226+720T>A)
n.421+720T>A
c.502T>A (p.Ser168Thr)
c.3625T>A (p.Ser1209Thr)
c.3601T>A (p.Ser1201Thr)
c.3571T>A (p.Ser1191Thr)
c.3553T>A (p.Ser1185Thr)
c.3499T>A (p.Ser1167Thr)
c.3418T>A (p.Ser1140Thr)
c.3361T>A (p.Ser1121Thr)
c.1447T>A (p.Ser483Thr)
c.625T>A (p.Ser209Thr)
n.3640T>A
c.3667T>A (p.Ser1223Thr)
c.3595T>A (p.Ser1199Thr)
c.3457T>A (p.Ser1153Thr)
c.1543T>A (p.Ser515Thr)
 gnomAD v4
16g.2111621G>ACA493049607PKD1c.3546C>T (p.Ala1182=)
n.310+719C>T
n.430+719C>T
n.496C>T
c.233+195C>T
n.790+719C>T
c.473-3263C>T
n.773+719C>T
c.2226+719C>T (n.2226+719C>T)
n.421+719C>T
c.501C>T (p.Ala167=)
c.3624C>T (p.Ala1208=)
c.3600C>T (p.Ala1200=)
c.3570C>T (p.Ala1190=)
c.3552C>T (p.Ala1184=)
c.3498C>T (p.Ala1166=)
c.3417C>T (p.Ala1139=)
c.3360C>T (p.Ala1120=)
c.1446C>T (p.Ala482=)
c.624C>T (p.Ala208=)
n.3639C>T
c.3666C>T (p.Ala1222=)
c.3594C>T (p.Ala1198=)
c.3456C>T (p.Ala1152=)
c.1542C>T (p.Ala514=)
 gnomAD v4
16g.2111621G>CCA7832731PKD1c.3546C>G (p.Ala1182=)
n.310+719C>G
n.430+719C>G
n.496C>G
c.233+195C>G
n.790+719C>G
c.473-3263C>G
n.773+719C>G
c.2226+719C>G (n.2226+719C>G)
n.421+719C>G
c.501C>G (p.Ala167=)
c.3624C>G (p.Ala1208=)
c.3600C>G (p.Ala1200=)
c.3570C>G (p.Ala1190=)
c.3552C>G (p.Ala1184=)
c.3498C>G (p.Ala1166=)
c.3417C>G (p.Ala1139=)
c.3360C>G (p.Ala1120=)
c.1446C>G (p.Ala482=)
c.624C>G (p.Ala208=)
n.3639C>G
c.3666C>G (p.Ala1222=)
c.3594C>G (p.Ala1198=)
c.3456C>G (p.Ala1152=)
c.1542C>G (p.Ala514=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111621G=CA2202047718PKD1c.3546C= (p.Ala1182=)
n.310+719C=
n.430+719C=
n.496C=
c.233+195C=
n.790+719C=
c.473-3263C=
n.773+719C=
c.2226+719C= (n.2226+719C=)
n.421+719C=
c.501C= (p.Ala167=)
c.3624C= (p.Ala1208=)
c.3600C= (p.Ala1200=)
c.3570C= (p.Ala1190=)
c.3552C= (p.Ala1184=)
c.3498C= (p.Ala1166=)
c.3417C= (p.Ala1139=)
c.3360C= (p.Ala1120=)
c.1446C= (p.Ala482=)
c.624C= (p.Ala208=)
n.3639C=
c.3666C= (p.Ala1222=)
c.3594C= (p.Ala1198=)
c.3456C= (p.Ala1152=)
c.1542C= (p.Ala514=)
16g.2111621G>TCA493049609PKD1c.3546C>A (p.Ala1182=)
n.310+719C>A
n.430+719C>A
n.496C>A
c.233+195C>A
n.790+719C>A
c.473-3263C>A
n.773+719C>A
c.2226+719C>A (n.2226+719C>A)
n.421+719C>A
c.501C>A (p.Ala167=)
c.3624C>A (p.Ala1208=)
c.3600C>A (p.Ala1200=)
c.3570C>A (p.Ala1190=)
c.3552C>A (p.Ala1184=)
c.3498C>A (p.Ala1166=)
c.3417C>A (p.Ala1139=)
c.3360C>A (p.Ala1120=)
c.1446C>A (p.Ala482=)
c.624C>A (p.Ala208=)
n.3639C>A
c.3666C>A (p.Ala1222=)
c.3594C>A (p.Ala1198=)
c.3456C>A (p.Ala1152=)
c.1542C>A (p.Ala514=)
 gnomAD v4
16g.2111622G>ACA7832732PKD1c.3545C>T (p.Ala1182Val)
n.310+718C>T
n.430+718C>T
n.495C>T
c.233+194C>T
n.790+718C>T
c.473-3264C>T
n.773+718C>T
c.2226+718C>T (n.2226+718C>T)
n.421+718C>T
c.500C>T (p.Ala167Val)
c.3623C>T (p.Ala1208Val)
c.3599C>T (p.Ala1200Val)
c.3569C>T (p.Ala1190Val)
c.3551C>T (p.Ala1184Val)
c.3497C>T (p.Ala1166Val)
c.3416C>T (p.Ala1139Val)
c.3359C>T (p.Ala1120Val)
c.1445C>T (p.Ala482Val)
c.623C>T (p.Ala208Val)
n.3638C>T
c.3665C>T (p.Ala1222Val)
c.3593C>T (p.Ala1198Val)
c.3455C>T (p.Ala1152Val)
c.1541C>T (p.Ala514Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2111622G>CCA394382885PKD1c.3545C>G (p.Ala1182Gly)
n.310+718C>G
n.430+718C>G
n.495C>G
c.233+194C>G
n.790+718C>G
c.473-3264C>G
n.773+718C>G
c.2226+718C>G (n.2226+718C>G)
n.421+718C>G
c.500C>G (p.Ala167Gly)
c.3623C>G (p.Ala1208Gly)
c.3599C>G (p.Ala1200Gly)
c.3569C>G (p.Ala1190Gly)
c.3551C>G (p.Ala1184Gly)
c.3497C>G (p.Ala1166Gly)
c.3416C>G (p.Ala1139Gly)
c.3359C>G (p.Ala1120Gly)
c.1445C>G (p.Ala482Gly)
c.623C>G (p.Ala208Gly)
n.3638C>G
c.3665C>G (p.Ala1222Gly)
c.3593C>G (p.Ala1198Gly)
c.3455C>G (p.Ala1152Gly)
c.1541C>G (p.Ala514Gly)
16g.2111622G=CA2202047719PKD1c.3545C= (p.Ala1182=)
n.310+718C=
n.430+718C=
n.495C=
c.233+194C=
n.790+718C=
c.473-3264C=
n.773+718C=
c.2226+718C= (n.2226+718C=)
n.421+718C=
c.500C= (p.Ala167=)
c.3623C= (p.Ala1208=)
c.3599C= (p.Ala1200=)
c.3569C= (p.Ala1190=)
c.3551C= (p.Ala1184=)
c.3497C= (p.Ala1166=)
c.3416C= (p.Ala1139=)
c.3359C= (p.Ala1120=)
c.1445C= (p.Ala482=)
c.623C= (p.Ala208=)
n.3638C=
c.3665C= (p.Ala1222=)
c.3593C= (p.Ala1198=)
c.3455C= (p.Ala1152=)
c.1541C= (p.Ala514=)
16g.2111622G>TCA394382884PKD1c.3545C>A (p.Ala1182Asp)
n.310+718C>A
n.430+718C>A
n.495C>A
c.233+194C>A
n.790+718C>A
c.473-3264C>A
n.773+718C>A
c.2226+718C>A (n.2226+718C>A)
n.421+718C>A
c.500C>A (p.Ala167Asp)
c.3623C>A (p.Ala1208Asp)
c.3599C>A (p.Ala1200Asp)
c.3569C>A (p.Ala1190Asp)
c.3551C>A (p.Ala1184Asp)
c.3497C>A (p.Ala1166Asp)
c.3416C>A (p.Ala1139Asp)
c.3359C>A (p.Ala1120Asp)
c.1445C>A (p.Ala482Asp)
c.623C>A (p.Ala208Asp)
n.3638C>A
c.3665C>A (p.Ala1222Asp)
c.3593C>A (p.Ala1198Asp)
c.3455C>A (p.Ala1152Asp)
c.1541C>A (p.Ala514Asp)
 gnomAD v4
16g.2111623C>ACA394382886PKD1c.3544G>T (p.Ala1182Ser)
n.310+717G>T
n.430+717G>T
n.494G>T
c.233+193G>T
n.790+717G>T
c.473-3265G>T
n.773+717G>T
c.2226+717G>T (n.2226+717G>T)
n.421+717G>T
c.499G>T (p.Ala167Ser)
c.3622G>T (p.Ala1208Ser)
c.3598G>T (p.Ala1200Ser)
c.3568G>T (p.Ala1190Ser)
c.3550G>T (p.Ala1184Ser)
c.3496G>T (p.Ala1166Ser)
c.3415G>T (p.Ala1139Ser)
c.3358G>T (p.Ala1120Ser)
c.1444G>T (p.Ala482Ser)
c.622G>T (p.Ala208Ser)
n.3637G>T
c.3664G>T (p.Ala1222Ser)
c.3592G>T (p.Ala1198Ser)
c.3454G>T (p.Ala1152Ser)
c.1540G>T (p.Ala514Ser)
 gnomAD v4
16g.2111623C>GCA394382887PKD1c.3544G>C (p.Ala1182Pro)
n.310+717G>C
n.430+717G>C
n.494G>C
c.233+193G>C
n.790+717G>C
c.473-3265G>C
n.773+717G>C
c.2226+717G>C (n.2226+717G>C)
n.421+717G>C
c.499G>C (p.Ala167Pro)
c.3622G>C (p.Ala1208Pro)
c.3598G>C (p.Ala1200Pro)
c.3568G>C (p.Ala1190Pro)
c.3550G>C (p.Ala1184Pro)
c.3496G>C (p.Ala1166Pro)
c.3415G>C (p.Ala1139Pro)
c.3358G>C (p.Ala1120Pro)
c.1444G>C (p.Ala482Pro)
c.622G>C (p.Ala208Pro)
n.3637G>C
c.3664G>C (p.Ala1222Pro)
c.3592G>C (p.Ala1198Pro)
c.3454G>C (p.Ala1152Pro)
c.1540G>C (p.Ala514Pro)
 gnomAD v4
16g.2111623C>TCA394382888PKD1c.3544G>A (p.Ala1182Thr)
n.310+717G>A
n.430+717G>A
n.494G>A
c.233+193G>A
n.790+717G>A
c.473-3265G>A
n.773+717G>A
c.2226+717G>A (n.2226+717G>A)
n.421+717G>A
c.499G>A (p.Ala167Thr)
c.3622G>A (p.Ala1208Thr)
c.3598G>A (p.Ala1200Thr)
c.3568G>A (p.Ala1190Thr)
c.3550G>A (p.Ala1184Thr)
c.3496G>A (p.Ala1166Thr)
c.3415G>A (p.Ala1139Thr)
c.3358G>A (p.Ala1120Thr)
c.1444G>A (p.Ala482Thr)
c.622G>A (p.Ala208Thr)
n.3637G>A
c.3664G>A (p.Ala1222Thr)
c.3592G>A (p.Ala1198Thr)
c.3454G>A (p.Ala1152Thr)
c.1540G>A (p.Ala514Thr)
 gnomAD v4
16g.2111624A=CA2202047720PKD1c.3543T= (p.Tyr1181=)
n.310+716T=
n.430+716T=
n.493T=
c.233+192T=
n.790+716T=
c.473-3266T=
n.773+716T=
c.2226+716T= (n.2226+716T=)
n.421+716T=
c.498T= (p.Tyr166=)
c.3621T= (p.Tyr1207=)
c.3597T= (p.Tyr1199=)
c.3567T= (p.Tyr1189=)
c.3549T= (p.Tyr1183=)
c.3495T= (p.Tyr1165=)
c.3414T= (p.Tyr1138=)
c.3357T= (p.Tyr1119=)
c.1443T= (p.Tyr481=)
c.621T= (p.Tyr207=)
n.3636T=
c.3663T= (p.Tyr1221=)
c.3591T= (p.Tyr1197=)
c.3453T= (p.Tyr1151=)
c.1539T= (p.Tyr513=)
16g.2111624A>CCA394382889PKD1c.3543T>G (p.Tyr1181Ter)
n.310+716T>G
n.430+716T>G
n.493T>G
c.233+192T>G
n.790+716T>G
c.473-3266T>G
n.773+716T>G
c.2226+716T>G (n.2226+716T>G)
n.421+716T>G
c.498T>G (p.Tyr166Ter)
c.3621T>G (p.Tyr1207Ter)
c.3597T>G (p.Tyr1199Ter)
c.3567T>G (p.Tyr1189Ter)
c.3549T>G (p.Tyr1183Ter)
c.3495T>G (p.Tyr1165Ter)
c.3414T>G (p.Tyr1138Ter)
c.3357T>G (p.Tyr1119Ter)
c.1443T>G (p.Tyr481Ter)
c.621T>G (p.Tyr207Ter)
n.3636T>G
c.3663T>G (p.Tyr1221Ter)
c.3591T>G (p.Tyr1197Ter)
c.3453T>G (p.Tyr1151Ter)
c.1539T>G (p.Tyr513Ter)
16g.2111624A>GCA493049617PKD1c.3543T>C (p.Tyr1181=)
n.310+716T>C
n.430+716T>C
n.493T>C
c.233+192T>C
n.790+716T>C
c.473-3266T>C
n.773+716T>C
c.2226+716T>C (n.2226+716T>C)
n.421+716T>C
c.498T>C (p.Tyr166=)
c.3621T>C (p.Tyr1207=)
c.3597T>C (p.Tyr1199=)
c.3567T>C (p.Tyr1189=)
c.3549T>C (p.Tyr1183=)
c.3495T>C (p.Tyr1165=)
c.3414T>C (p.Tyr1138=)
c.3357T>C (p.Tyr1119=)
c.1443T>C (p.Tyr481=)
c.621T>C (p.Tyr207=)
n.3636T>C
c.3663T>C (p.Tyr1221=)
c.3591T>C (p.Tyr1197=)
c.3453T>C (p.Tyr1151=)
c.1539T>C (p.Tyr513=)
 gnomAD v4
16g.2111624A>TCA10654923PKD1c.3543T>A (p.Tyr1181Ter)
n.310+716T>A
n.430+716T>A
n.493T>A
c.233+192T>A
n.790+716T>A
c.473-3266T>A
n.773+716T>A
c.2226+716T>A (n.2226+716T>A)
n.421+716T>A
c.498T>A (p.Tyr166Ter)
c.3621T>A (p.Tyr1207Ter)
c.3597T>A (p.Tyr1199Ter)
c.3567T>A (p.Tyr1189Ter)
c.3549T>A (p.Tyr1183Ter)
c.3495T>A (p.Tyr1165Ter)
c.3414T>A (p.Tyr1138Ter)
c.3357T>A (p.Tyr1119Ter)
c.1443T>A (p.Tyr481Ter)
c.621T>A (p.Tyr207Ter)
n.3636T>A
c.3663T>A (p.Tyr1221Ter)
c.3591T>A (p.Tyr1197Ter)
c.3453T>A (p.Tyr1151Ter)
c.1539T>A (p.Tyr513Ter)
 ClinVar dbSNP gnomAD v4

Number of alleles fetched