Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2090471_2090472delCA2739290708PKD1c.12263_12264del (p.Val4088GlyfsTer?)
c.12260_12261del (p.Val4087GlyfsTer?)
n.291_292del
c.9218_9219del (p.Val3073GlyfsTer?)
c.12341_12342del (p.Val4114GlyfsTer?)
c.12338_12339del (p.Val4113GlyfsTer?)
c.12323_12324del (p.Val4108GlyfsTer?)
c.12317_12318del (p.Val4106GlyfsTer?)
c.12314_12315del (p.Val4105GlyfsTer?)
c.12287_12288del (p.Val4096GlyfsTer?)
c.12269_12270del (p.Val4090GlyfsTer?)
c.12215_12216del (p.Val4072GlyfsTer?)
c.12134_12135del (p.Val4045GlyfsTer?)
c.12077_12078del (p.Val4026GlyfsTer?)
c.10163_10164del (p.Val3388GlyfsTer?)
c.9341_9342del (p.Val3114GlyfsTer?)
n.12181_12182del
c.12383_12384del (p.Val4128GlyfsTer?)
c.12311_12312del (p.Val4104GlyfsTer?)
c.12173_12174del (p.Val4058GlyfsTer?)
c.10259_10260del (p.Val3420GlyfsTer?)
16g.2090469_2090472delCA2631135296PKD1c.12261_12264del (p.Cys4087TrpfsTer?)
c.12258_12261del (p.Cys4086TrpfsTer?)
n.289_292del
c.9216_9219del (p.Cys3072TrpfsTer?)
c.12339_12342del (p.Cys4113TrpfsTer?)
c.12336_12339del (p.Cys4112TrpfsTer?)
c.12321_12324del (p.Cys4107TrpfsTer?)
c.12315_12318del (p.Cys4105TrpfsTer?)
c.12312_12315del (p.Cys4104TrpfsTer?)
c.12285_12288del (p.Cys4095TrpfsTer?)
c.12267_12270del (p.Cys4089TrpfsTer?)
c.12213_12216del (p.Cys4071TrpfsTer?)
c.12132_12135del (p.Cys4044TrpfsTer?)
c.12075_12078del (p.Cys4025TrpfsTer?)
c.10161_10164del (p.Cys3387TrpfsTer?)
c.9339_9342del (p.Cys3113TrpfsTer?)
n.12179_12182del
c.12381_12384del (p.Cys4127TrpfsTer?)
c.12309_12312del (p.Cys4103TrpfsTer?)
c.12171_12174del (p.Cys4057TrpfsTer?)
c.10257_10260del (p.Cys3419TrpfsTer?)
 gnomAD v4
16g.2090467_2090479delCA2695221542PKD1c.12250_12262del (p.Pro4084TrpfsTer?)
c.12247_12259del (p.Pro4083TrpfsTer?)
n.278_290del
c.9205_9217del (p.Pro3069TrpfsTer?)
c.12328_12340del (p.Pro4110TrpfsTer?)
c.12325_12337del (p.Pro4109TrpfsTer?)
c.12310_12322del (p.Pro4104TrpfsTer?)
c.12304_12316del (p.Pro4102TrpfsTer?)
c.12301_12313del (p.Pro4101TrpfsTer?)
c.12274_12286del (p.Pro4092TrpfsTer?)
c.12256_12268del (p.Pro4086TrpfsTer?)
c.12202_12214del (p.Pro4068TrpfsTer?)
c.12121_12133del (p.Pro4041TrpfsTer?)
c.12064_12076del (p.Pro4022TrpfsTer?)
c.10150_10162del (p.Pro3384TrpfsTer?)
c.9328_9340del (p.Pro3110TrpfsTer?)
n.12168_12180del
c.12370_12382del (p.Pro4124TrpfsTer?)
c.12298_12310del (p.Pro4100TrpfsTer?)
c.12160_12172del (p.Pro4054TrpfsTer?)
c.10246_10258del (p.Pro3416TrpfsTer?)
16g.2090468A=CA2202041845PKD1c.12261T= (p.Cys4087=)
c.12258T= (p.Cys4086=)
n.289T=
c.9216T= (p.Cys3072=)
c.12339T= (p.Cys4113=)
c.12336T= (p.Cys4112=)
c.12321T= (p.Cys4107=)
c.12315T= (p.Cys4105=)
c.12312T= (p.Cys4104=)
c.12285T= (p.Cys4095=)
c.12267T= (p.Cys4089=)
c.12213T= (p.Cys4071=)
c.12132T= (p.Cys4044=)
c.12075T= (p.Cys4025=)
c.10161T= (p.Cys3387=)
c.9339T= (p.Cys3113=)
n.12179T=
c.12381T= (p.Cys4127=)
c.12309T= (p.Cys4103=)
c.12171T= (p.Cys4057=)
c.10257T= (p.Cys3419=)
16g.2090468A>CCA394325920PKD1c.12261T>G (p.Cys4087Trp)
c.12258T>G (p.Cys4086Trp)
n.289T>G
c.9216T>G (p.Cys3072Trp)
c.12339T>G (p.Cys4113Trp)
c.12336T>G (p.Cys4112Trp)
c.12321T>G (p.Cys4107Trp)
c.12315T>G (p.Cys4105Trp)
c.12312T>G (p.Cys4104Trp)
c.12285T>G (p.Cys4095Trp)
c.12267T>G (p.Cys4089Trp)
c.12213T>G (p.Cys4071Trp)
c.12132T>G (p.Cys4044Trp)
c.12075T>G (p.Cys4025Trp)
c.10161T>G (p.Cys3387Trp)
c.9339T>G (p.Cys3113Trp)
n.12179T>G
c.12381T>G (p.Cys4127Trp)
c.12309T>G (p.Cys4103Trp)
c.12171T>G (p.Cys4057Trp)
c.10257T>G (p.Cys3419Trp)
16g.2090468A>GCA493044569PKD1c.12261T>C (p.Cys4087=)
c.12258T>C (p.Cys4086=)
n.289T>C
c.9216T>C (p.Cys3072=)
c.12339T>C (p.Cys4113=)
c.12336T>C (p.Cys4112=)
c.12321T>C (p.Cys4107=)
c.12315T>C (p.Cys4105=)
c.12312T>C (p.Cys4104=)
c.12285T>C (p.Cys4095=)
c.12267T>C (p.Cys4089=)
c.12213T>C (p.Cys4071=)
c.12132T>C (p.Cys4044=)
c.12075T>C (p.Cys4025=)
c.10161T>C (p.Cys3387=)
c.9339T>C (p.Cys3113=)
n.12179T>C
c.12381T>C (p.Cys4127=)
c.12309T>C (p.Cys4103=)
c.12171T>C (p.Cys4057=)
c.10257T>C (p.Cys3419=)
16g.2090468A>TCA119373PKD1c.12261T>A (p.Cys4087Ter)
c.12258T>A (p.Cys4086Ter)
n.289T>A
c.9216T>A (p.Cys3072Ter)
c.12339T>A (p.Cys4113Ter)
c.12336T>A (p.Cys4112Ter)
c.12321T>A (p.Cys4107Ter)
c.12315T>A (p.Cys4105Ter)
c.12312T>A (p.Cys4104Ter)
c.12285T>A (p.Cys4095Ter)
c.12267T>A (p.Cys4089Ter)
c.12213T>A (p.Cys4071Ter)
c.12132T>A (p.Cys4044Ter)
c.12075T>A (p.Cys4025Ter)
c.10161T>A (p.Cys3387Ter)
c.9339T>A (p.Cys3113Ter)
n.12179T>A
c.12381T>A (p.Cys4127Ter)
c.12309T>A (p.Cys4103Ter)
c.12171T>A (p.Cys4057Ter)
c.10257T>A (p.Cys3419Ter)
 ClinVar dbSNP
16g.2090469C>ACA394325922PKD1c.12260G>T (p.Cys4087Phe)
c.12257G>T (p.Cys4086Phe)
n.288G>T
c.9215G>T (p.Cys3072Phe)
c.12338G>T (p.Cys4113Phe)
c.12335G>T (p.Cys4112Phe)
c.12320G>T (p.Cys4107Phe)
c.12314G>T (p.Cys4105Phe)
c.12311G>T (p.Cys4104Phe)
c.12284G>T (p.Cys4095Phe)
c.12266G>T (p.Cys4089Phe)
c.12212G>T (p.Cys4071Phe)
c.12131G>T (p.Cys4044Phe)
c.12074G>T (p.Cys4025Phe)
c.10160G>T (p.Cys3387Phe)
c.9338G>T (p.Cys3113Phe)
n.12178G>T
c.12380G>T (p.Cys4127Phe)
c.12308G>T (p.Cys4103Phe)
c.12170G>T (p.Cys4057Phe)
c.10256G>T (p.Cys3419Phe)
16g.2090469C>GCA394325936PKD1c.12260G>C (p.Cys4087Ser)
c.12257G>C (p.Cys4086Ser)
n.288G>C
c.9215G>C (p.Cys3072Ser)
c.12338G>C (p.Cys4113Ser)
c.12335G>C (p.Cys4112Ser)
c.12320G>C (p.Cys4107Ser)
c.12314G>C (p.Cys4105Ser)
c.12311G>C (p.Cys4104Ser)
c.12284G>C (p.Cys4095Ser)
c.12266G>C (p.Cys4089Ser)
c.12212G>C (p.Cys4071Ser)
c.12131G>C (p.Cys4044Ser)
c.12074G>C (p.Cys4025Ser)
c.10160G>C (p.Cys3387Ser)
c.9338G>C (p.Cys3113Ser)
n.12178G>C
c.12380G>C (p.Cys4127Ser)
c.12308G>C (p.Cys4103Ser)
c.12170G>C (p.Cys4057Ser)
c.10256G>C (p.Cys3419Ser)
 gnomAD v4
16g.2090469C>TCA394325924PKD1c.12260G>A (p.Cys4087Tyr)
c.12257G>A (p.Cys4086Tyr)
n.288G>A
c.9215G>A (p.Cys3072Tyr)
c.12338G>A (p.Cys4113Tyr)
c.12335G>A (p.Cys4112Tyr)
c.12320G>A (p.Cys4107Tyr)
c.12314G>A (p.Cys4105Tyr)
c.12311G>A (p.Cys4104Tyr)
c.12284G>A (p.Cys4095Tyr)
c.12266G>A (p.Cys4089Tyr)
c.12212G>A (p.Cys4071Tyr)
c.12131G>A (p.Cys4044Tyr)
c.12074G>A (p.Cys4025Tyr)
c.10160G>A (p.Cys3387Tyr)
c.9338G>A (p.Cys3113Tyr)
n.12178G>A
c.12380G>A (p.Cys4127Tyr)
c.12308G>A (p.Cys4103Tyr)
c.12170G>A (p.Cys4057Tyr)
c.10256G>A (p.Cys3419Tyr)
16g.2090470A>CCA394325941PKD1c.12259T>G (p.Cys4087Gly)
c.12256T>G (p.Cys4086Gly)
n.287T>G
c.9214T>G (p.Cys3072Gly)
c.12337T>G (p.Cys4113Gly)
c.12334T>G (p.Cys4112Gly)
c.12319T>G (p.Cys4107Gly)
c.12313T>G (p.Cys4105Gly)
c.12310T>G (p.Cys4104Gly)
c.12283T>G (p.Cys4095Gly)
c.12265T>G (p.Cys4089Gly)
c.12211T>G (p.Cys4071Gly)
c.12130T>G (p.Cys4044Gly)
c.12073T>G (p.Cys4025Gly)
c.10159T>G (p.Cys3387Gly)
c.9337T>G (p.Cys3113Gly)
n.12177T>G
c.12379T>G (p.Cys4127Gly)
c.12307T>G (p.Cys4103Gly)
c.12169T>G (p.Cys4057Gly)
c.10255T>G (p.Cys3419Gly)
16g.2090470A>GCA394325944PKD1c.12259T>C (p.Cys4087Arg)
c.12256T>C (p.Cys4086Arg)
n.287T>C
c.9214T>C (p.Cys3072Arg)
c.12337T>C (p.Cys4113Arg)
c.12334T>C (p.Cys4112Arg)
c.12319T>C (p.Cys4107Arg)
c.12313T>C (p.Cys4105Arg)
c.12310T>C (p.Cys4104Arg)
c.12283T>C (p.Cys4095Arg)
c.12265T>C (p.Cys4089Arg)
c.12211T>C (p.Cys4071Arg)
c.12130T>C (p.Cys4044Arg)
c.12073T>C (p.Cys4025Arg)
c.10159T>C (p.Cys3387Arg)
c.9337T>C (p.Cys3113Arg)
n.12177T>C
c.12379T>C (p.Cys4127Arg)
c.12307T>C (p.Cys4103Arg)
c.12169T>C (p.Cys4057Arg)
c.10255T>C (p.Cys3419Arg)
16g.2090470A>TCA394325950PKD1c.12259T>A (p.Cys4087Ser)
c.12256T>A (p.Cys4086Ser)
n.287T>A
c.9214T>A (p.Cys3072Ser)
c.12337T>A (p.Cys4113Ser)
c.12334T>A (p.Cys4112Ser)
c.12319T>A (p.Cys4107Ser)
c.12313T>A (p.Cys4105Ser)
c.12310T>A (p.Cys4104Ser)
c.12283T>A (p.Cys4095Ser)
c.12265T>A (p.Cys4089Ser)
c.12211T>A (p.Cys4071Ser)
c.12130T>A (p.Cys4044Ser)
c.12073T>A (p.Cys4025Ser)
c.10159T>A (p.Cys3387Ser)
c.9337T>A (p.Cys3113Ser)
n.12177T>A
c.12379T>A (p.Cys4127Ser)
c.12307T>A (p.Cys4103Ser)
c.12169T>A (p.Cys4057Ser)
c.10255T>A (p.Cys3419Ser)
16g.2090471C>ACA493044577PKD1c.12258G>T (p.Leu4086=)
c.12255G>T (p.Leu4085=)
n.286G>T
c.9213G>T (p.Leu3071=)
c.12336G>T (p.Leu4112=)
c.12333G>T (p.Leu4111=)
c.12318G>T (p.Leu4106=)
c.12312G>T (p.Leu4104=)
c.12309G>T (p.Leu4103=)
c.12282G>T (p.Leu4094=)
c.12264G>T (p.Leu4088=)
c.12210G>T (p.Leu4070=)
c.12129G>T (p.Leu4043=)
c.12072G>T (p.Leu4024=)
c.10158G>T (p.Leu3386=)
c.9336G>T (p.Leu3112=)
n.12176G>T
c.12378G>T (p.Leu4126=)
c.12306G>T (p.Leu4102=)
c.12168G>T (p.Leu4056=)
c.10254G>T (p.Leu3418=)
16g.2090471C=CA2202041850PKD1c.12258G= (p.Leu4086=)
c.12255G= (p.Leu4085=)
n.286G=
c.9213G= (p.Leu3071=)
c.12336G= (p.Leu4112=)
c.12333G= (p.Leu4111=)
c.12318G= (p.Leu4106=)
c.12312G= (p.Leu4104=)
c.12309G= (p.Leu4103=)
c.12282G= (p.Leu4094=)
c.12264G= (p.Leu4088=)
c.12210G= (p.Leu4070=)
c.12129G= (p.Leu4043=)
c.12072G= (p.Leu4024=)
c.10158G= (p.Leu3386=)
c.9336G= (p.Leu3112=)
n.12176G=
c.12378G= (p.Leu4126=)
c.12306G= (p.Leu4102=)
c.12168G= (p.Leu4056=)
c.10254G= (p.Leu3418=)
16g.2090471C>GCA493044578PKD1c.12258G>C (p.Leu4086=)
c.12255G>C (p.Leu4085=)
n.286G>C
c.9213G>C (p.Leu3071=)
c.12336G>C (p.Leu4112=)
c.12333G>C (p.Leu4111=)
c.12318G>C (p.Leu4106=)
c.12312G>C (p.Leu4104=)
c.12309G>C (p.Leu4103=)
c.12282G>C (p.Leu4094=)
c.12264G>C (p.Leu4088=)
c.12210G>C (p.Leu4070=)
c.12129G>C (p.Leu4043=)
c.12072G>C (p.Leu4024=)
c.10158G>C (p.Leu3386=)
c.9336G>C (p.Leu3112=)
n.12176G>C
c.12378G>C (p.Leu4126=)
c.12306G>C (p.Leu4102=)
c.12168G>C (p.Leu4056=)
c.10254G>C (p.Leu3418=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2090471C>TCA493044579PKD1c.12258G>A (p.Leu4086=)
c.12255G>A (p.Leu4085=)
n.286G>A
c.9213G>A (p.Leu3071=)
c.12336G>A (p.Leu4112=)
c.12333G>A (p.Leu4111=)
c.12318G>A (p.Leu4106=)
c.12312G>A (p.Leu4104=)
c.12309G>A (p.Leu4103=)
c.12282G>A (p.Leu4094=)
c.12264G>A (p.Leu4088=)
c.12210G>A (p.Leu4070=)
c.12129G>A (p.Leu4043=)
c.12072G>A (p.Leu4024=)
c.10158G>A (p.Leu3386=)
c.9336G>A (p.Leu3112=)
n.12176G>A
c.12378G>A (p.Leu4126=)
c.12306G>A (p.Leu4102=)
c.12168G>A (p.Leu4056=)
c.10254G>A (p.Leu3418=)
 gnomAD v4
16g.2090472A>CCA394325953PKD1c.12257T>G (p.Leu4086Arg)
c.12254T>G (p.Leu4085Arg)
n.285T>G
c.9212T>G (p.Leu3071Arg)
c.12335T>G (p.Leu4112Arg)
c.12332T>G (p.Leu4111Arg)
c.12317T>G (p.Leu4106Arg)
c.12311T>G (p.Leu4104Arg)
c.12308T>G (p.Leu4103Arg)
c.12281T>G (p.Leu4094Arg)
c.12263T>G (p.Leu4088Arg)
c.12209T>G (p.Leu4070Arg)
c.12128T>G (p.Leu4043Arg)
c.12071T>G (p.Leu4024Arg)
c.10157T>G (p.Leu3386Arg)
c.9335T>G (p.Leu3112Arg)
n.12175T>G
c.12377T>G (p.Leu4126Arg)
c.12305T>G (p.Leu4102Arg)
c.12167T>G (p.Leu4056Arg)
c.10253T>G (p.Leu3418Arg)
16g.2090472A>GCA394325954PKD1c.12257T>C (p.Leu4086Pro)
c.12254T>C (p.Leu4085Pro)
n.285T>C
c.9212T>C (p.Leu3071Pro)
c.12335T>C (p.Leu4112Pro)
c.12332T>C (p.Leu4111Pro)
c.12317T>C (p.Leu4106Pro)
c.12311T>C (p.Leu4104Pro)
c.12308T>C (p.Leu4103Pro)
c.12281T>C (p.Leu4094Pro)
c.12263T>C (p.Leu4088Pro)
c.12209T>C (p.Leu4070Pro)
c.12128T>C (p.Leu4043Pro)
c.12071T>C (p.Leu4024Pro)
c.10157T>C (p.Leu3386Pro)
c.9335T>C (p.Leu3112Pro)
n.12175T>C
c.12377T>C (p.Leu4126Pro)
c.12305T>C (p.Leu4102Pro)
c.12167T>C (p.Leu4056Pro)
c.10253T>C (p.Leu3418Pro)
16g.2090472A>TCA394325958PKD1c.12257T>A (p.Leu4086Gln)
c.12254T>A (p.Leu4085Gln)
n.285T>A
c.9212T>A (p.Leu3071Gln)
c.12335T>A (p.Leu4112Gln)
c.12332T>A (p.Leu4111Gln)
c.12317T>A (p.Leu4106Gln)
c.12311T>A (p.Leu4104Gln)
c.12308T>A (p.Leu4103Gln)
c.12281T>A (p.Leu4094Gln)
c.12263T>A (p.Leu4088Gln)
c.12209T>A (p.Leu4070Gln)
c.12128T>A (p.Leu4043Gln)
c.12071T>A (p.Leu4024Gln)
c.10157T>A (p.Leu3386Gln)
c.9335T>A (p.Leu3112Gln)
n.12175T>A
c.12377T>A (p.Leu4126Gln)
c.12305T>A (p.Leu4102Gln)
c.12167T>A (p.Leu4056Gln)
c.10253T>A (p.Leu3418Gln)
16g.2090473G>ACA493044580PKD1c.12256C>T (p.Leu4086=)
c.12253C>T (p.Leu4085=)
n.284C>T
c.9211C>T (p.Leu3071=)
c.12334C>T (p.Leu4112=)
c.12331C>T (p.Leu4111=)
c.12316C>T (p.Leu4106=)
c.12310C>T (p.Leu4104=)
c.12307C>T (p.Leu4103=)
c.12280C>T (p.Leu4094=)
c.12262C>T (p.Leu4088=)
c.12208C>T (p.Leu4070=)
c.12127C>T (p.Leu4043=)
c.12070C>T (p.Leu4024=)
c.10156C>T (p.Leu3386=)
c.9334C>T (p.Leu3112=)
n.12174C>T
c.12376C>T (p.Leu4126=)
c.12304C>T (p.Leu4102=)
c.12166C>T (p.Leu4056=)
c.10252C>T (p.Leu3418=)
 dbSNP gnomAD v2 gnomAD v4
16g.2090473G>CCA276764135PKD1c.12256C>G (p.Leu4086Val)
c.12253C>G (p.Leu4085Val)
n.284C>G
c.9211C>G (p.Leu3071Val)
c.12334C>G (p.Leu4112Val)
c.12331C>G (p.Leu4111Val)
c.12316C>G (p.Leu4106Val)
c.12310C>G (p.Leu4104Val)
c.12307C>G (p.Leu4103Val)
c.12280C>G (p.Leu4094Val)
c.12262C>G (p.Leu4088Val)
c.12208C>G (p.Leu4070Val)
c.12127C>G (p.Leu4043Val)
c.12070C>G (p.Leu4024Val)
c.10156C>G (p.Leu3386Val)
c.9334C>G (p.Leu3112Val)
n.12174C>G
c.12376C>G (p.Leu4126Val)
c.12304C>G (p.Leu4102Val)
c.12166C>G (p.Leu4056Val)
c.10252C>G (p.Leu3418Val)
 dbSNP gnomAD v4
16g.2090473G=CA2202041853PKD1c.12256C= (p.Leu4086=)
c.12253C= (p.Leu4085=)
n.284C=
c.9211C= (p.Leu3071=)
c.12334C= (p.Leu4112=)
c.12331C= (p.Leu4111=)
c.12316C= (p.Leu4106=)
c.12310C= (p.Leu4104=)
c.12307C= (p.Leu4103=)
c.12280C= (p.Leu4094=)
c.12262C= (p.Leu4088=)
c.12208C= (p.Leu4070=)
c.12127C= (p.Leu4043=)
c.12070C= (p.Leu4024=)
c.10156C= (p.Leu3386=)
c.9334C= (p.Leu3112=)
n.12174C=
c.12376C= (p.Leu4126=)
c.12304C= (p.Leu4102=)
c.12166C= (p.Leu4056=)
c.10252C= (p.Leu3418=)
16g.2090473G>TCA394325964PKD1c.12256C>A (p.Leu4086Met)
c.12253C>A (p.Leu4085Met)
n.284C>A
c.9211C>A (p.Leu3071Met)
c.12334C>A (p.Leu4112Met)
c.12331C>A (p.Leu4111Met)
c.12316C>A (p.Leu4106Met)
c.12310C>A (p.Leu4104Met)
c.12307C>A (p.Leu4103Met)
c.12280C>A (p.Leu4094Met)
c.12262C>A (p.Leu4088Met)
c.12208C>A (p.Leu4070Met)
c.12127C>A (p.Leu4043Met)
c.12070C>A (p.Leu4024Met)
c.10156C>A (p.Leu3386Met)
c.9334C>A (p.Leu3112Met)
n.12174C>A
c.12376C>A (p.Leu4126Met)
c.12304C>A (p.Leu4102Met)
c.12166C>A (p.Leu4056Met)
c.10252C>A (p.Leu3418Met)
16g.2090474C>ACA493044583PKD1c.12255G>T (p.Leu4085=)
c.12252G>T (p.Leu4084=)
n.283G>T
c.9210G>T (p.Leu3070=)
c.12333G>T (p.Leu4111=)
c.12330G>T (p.Leu4110=)
c.12315G>T (p.Leu4105=)
c.12309G>T (p.Leu4103=)
c.12306G>T (p.Leu4102=)
c.12279G>T (p.Leu4093=)
c.12261G>T (p.Leu4087=)
c.12207G>T (p.Leu4069=)
c.12126G>T (p.Leu4042=)
c.12069G>T (p.Leu4023=)
c.10155G>T (p.Leu3385=)
c.9333G>T (p.Leu3111=)
n.12173G>T
c.12375G>T (p.Leu4125=)
c.12303G>T (p.Leu4101=)
c.12165G>T (p.Leu4055=)
c.10251G>T (p.Leu3417=)
16g.2090474C>GCA493044584PKD1c.12255G>C (p.Leu4085=)
c.12252G>C (p.Leu4084=)
n.283G>C
c.9210G>C (p.Leu3070=)
c.12333G>C (p.Leu4111=)
c.12330G>C (p.Leu4110=)
c.12315G>C (p.Leu4105=)
c.12309G>C (p.Leu4103=)
c.12306G>C (p.Leu4102=)
c.12279G>C (p.Leu4093=)
c.12261G>C (p.Leu4087=)
c.12207G>C (p.Leu4069=)
c.12126G>C (p.Leu4042=)
c.12069G>C (p.Leu4023=)
c.10155G>C (p.Leu3385=)
c.9333G>C (p.Leu3111=)
n.12173G>C
c.12375G>C (p.Leu4125=)
c.12303G>C (p.Leu4101=)
c.12165G>C (p.Leu4055=)
c.10251G>C (p.Leu3417=)
16g.2090474C>TCA493044585PKD1c.12255G>A (p.Leu4085=)
c.12252G>A (p.Leu4084=)
n.283G>A
c.9210G>A (p.Leu3070=)
c.12333G>A (p.Leu4111=)
c.12330G>A (p.Leu4110=)
c.12315G>A (p.Leu4105=)
c.12309G>A (p.Leu4103=)
c.12306G>A (p.Leu4102=)
c.12279G>A (p.Leu4093=)
c.12261G>A (p.Leu4087=)
c.12207G>A (p.Leu4069=)
c.12126G>A (p.Leu4042=)
c.12069G>A (p.Leu4023=)
c.10155G>A (p.Leu3385=)
c.9333G>A (p.Leu3111=)
n.12173G>A
c.12375G>A (p.Leu4125=)
c.12303G>A (p.Leu4101=)
c.12165G>A (p.Leu4055=)
c.10251G>A (p.Leu3417=)
16g.2090475A>CCA394325972PKD1c.12254T>G (p.Leu4085Arg)
c.12251T>G (p.Leu4084Arg)
n.282T>G
c.9209T>G (p.Leu3070Arg)
c.12332T>G (p.Leu4111Arg)
c.12329T>G (p.Leu4110Arg)
c.12314T>G (p.Leu4105Arg)
c.12308T>G (p.Leu4103Arg)
c.12305T>G (p.Leu4102Arg)
c.12278T>G (p.Leu4093Arg)
c.12260T>G (p.Leu4087Arg)
c.12206T>G (p.Leu4069Arg)
c.12125T>G (p.Leu4042Arg)
c.12068T>G (p.Leu4023Arg)
c.10154T>G (p.Leu3385Arg)
c.9332T>G (p.Leu3111Arg)
n.12172T>G
c.12374T>G (p.Leu4125Arg)
c.12302T>G (p.Leu4101Arg)
c.12164T>G (p.Leu4055Arg)
c.10250T>G (p.Leu3417Arg)
16g.2090475A>GCA394325974PKD1c.12254T>C (p.Leu4085Pro)
c.12251T>C (p.Leu4084Pro)
n.282T>C
c.9209T>C (p.Leu3070Pro)
c.12332T>C (p.Leu4111Pro)
c.12329T>C (p.Leu4110Pro)
c.12314T>C (p.Leu4105Pro)
c.12308T>C (p.Leu4103Pro)
c.12305T>C (p.Leu4102Pro)
c.12278T>C (p.Leu4093Pro)
c.12260T>C (p.Leu4087Pro)
c.12206T>C (p.Leu4069Pro)
c.12125T>C (p.Leu4042Pro)
c.12068T>C (p.Leu4023Pro)
c.10154T>C (p.Leu3385Pro)
c.9332T>C (p.Leu3111Pro)
n.12172T>C
c.12374T>C (p.Leu4125Pro)
c.12302T>C (p.Leu4101Pro)
c.12164T>C (p.Leu4055Pro)
c.10250T>C (p.Leu3417Pro)
16g.2090475A>TCA394325976PKD1c.12254T>A (p.Leu4085Gln)
c.12251T>A (p.Leu4084Gln)
n.282T>A
c.9209T>A (p.Leu3070Gln)
c.12332T>A (p.Leu4111Gln)
c.12329T>A (p.Leu4110Gln)
c.12314T>A (p.Leu4105Gln)
c.12308T>A (p.Leu4103Gln)
c.12305T>A (p.Leu4102Gln)
c.12278T>A (p.Leu4093Gln)
c.12260T>A (p.Leu4087Gln)
c.12206T>A (p.Leu4069Gln)
c.12125T>A (p.Leu4042Gln)
c.12068T>A (p.Leu4023Gln)
c.10154T>A (p.Leu3385Gln)
c.9332T>A (p.Leu3111Gln)
n.12172T>A
c.12374T>A (p.Leu4125Gln)
c.12302T>A (p.Leu4101Gln)
c.12164T>A (p.Leu4055Gln)
c.10250T>A (p.Leu3417Gln)
16g.2090476G>ACA7828704PKD1c.12253C>T (p.Leu4085=)
c.12250C>T (p.Leu4084=)
n.281C>T
c.9208C>T (p.Leu3070=)
c.12331C>T (p.Leu4111=)
c.12328C>T (p.Leu4110=)
c.12313C>T (p.Leu4105=)
c.12307C>T (p.Leu4103=)
c.12304C>T (p.Leu4102=)
c.12277C>T (p.Leu4093=)
c.12259C>T (p.Leu4087=)
c.12205C>T (p.Leu4069=)
c.12124C>T (p.Leu4042=)
c.12067C>T (p.Leu4023=)
c.10153C>T (p.Leu3385=)
c.9331C>T (p.Leu3111=)
n.12171C>T
c.12373C>T (p.Leu4125=)
c.12301C>T (p.Leu4101=)
c.12163C>T (p.Leu4055=)
c.10249C>T (p.Leu3417=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090476G>CCA394325989PKD1c.12253C>G (p.Leu4085Val)
c.12250C>G (p.Leu4084Val)
n.281C>G
c.9208C>G (p.Leu3070Val)
c.12331C>G (p.Leu4111Val)
c.12328C>G (p.Leu4110Val)
c.12313C>G (p.Leu4105Val)
c.12307C>G (p.Leu4103Val)
c.12304C>G (p.Leu4102Val)
c.12277C>G (p.Leu4093Val)
c.12259C>G (p.Leu4087Val)
c.12205C>G (p.Leu4069Val)
c.12124C>G (p.Leu4042Val)
c.12067C>G (p.Leu4023Val)
c.10153C>G (p.Leu3385Val)
c.9331C>G (p.Leu3111Val)
n.12171C>G
c.12373C>G (p.Leu4125Val)
c.12301C>G (p.Leu4101Val)
c.12163C>G (p.Leu4055Val)
c.10249C>G (p.Leu3417Val)
16g.2090476G=CA2202041855PKD1c.12253C= (p.Leu4085=)
c.12250C= (p.Leu4084=)
n.281C=
c.9208C= (p.Leu3070=)
c.12331C= (p.Leu4111=)
c.12328C= (p.Leu4110=)
c.12313C= (p.Leu4105=)
c.12307C= (p.Leu4103=)
c.12304C= (p.Leu4102=)
c.12277C= (p.Leu4093=)
c.12259C= (p.Leu4087=)
c.12205C= (p.Leu4069=)
c.12124C= (p.Leu4042=)
c.12067C= (p.Leu4023=)
c.10153C= (p.Leu3385=)
c.9331C= (p.Leu3111=)
n.12171C=
c.12373C= (p.Leu4125=)
c.12301C= (p.Leu4101=)
c.12163C= (p.Leu4055=)
c.10249C= (p.Leu3417=)
16g.2090476G>TCA394325980PKD1c.12253C>A (p.Leu4085Met)
c.12250C>A (p.Leu4084Met)
n.281C>A
c.9208C>A (p.Leu3070Met)
c.12331C>A (p.Leu4111Met)
c.12328C>A (p.Leu4110Met)
c.12313C>A (p.Leu4105Met)
c.12307C>A (p.Leu4103Met)
c.12304C>A (p.Leu4102Met)
c.12277C>A (p.Leu4093Met)
c.12259C>A (p.Leu4087Met)
c.12205C>A (p.Leu4069Met)
c.12124C>A (p.Leu4042Met)
c.12067C>A (p.Leu4023Met)
c.10153C>A (p.Leu3385Met)
c.9331C>A (p.Leu3111Met)
n.12171C>A
c.12373C>A (p.Leu4125Met)
c.12301C>A (p.Leu4101Met)
c.12163C>A (p.Leu4055Met)
c.10249C>A (p.Leu3417Met)
 gnomAD v4 COSMIC
16g.2090479delCA2695221545PKD1c.12253del (p.Leu4085CysfsTer?)
c.12250del (p.Leu4084CysfsTer?)
n.281del
c.9208del (p.Leu3070CysfsTer?)
c.12331del (p.Leu4111CysfsTer?)
c.12328del (p.Leu4110CysfsTer?)
c.12313del (p.Leu4105CysfsTer?)
c.12307del (p.Leu4103CysfsTer?)
c.12304del (p.Leu4102CysfsTer?)
c.12277del (p.Leu4093CysfsTer?)
c.12259del (p.Leu4087CysfsTer?)
c.12205del (p.Leu4069CysfsTer?)
c.12124del (p.Leu4042CysfsTer?)
c.12067del (p.Leu4023CysfsTer?)
c.10153del (p.Leu3385CysfsTer?)
c.9331del (p.Leu3111CysfsTer?)
n.12171del
c.12373del (p.Leu4125CysfsTer?)
c.12301del (p.Leu4101CysfsTer?)
c.12163del (p.Leu4055CysfsTer?)
c.10249del (p.Leu3417CysfsTer?)
16g.2090477G>ACA7828705PKD1c.12252C>T (p.Pro4084=)
c.12249C>T (p.Pro4083=)
n.280C>T
c.9207C>T (p.Pro3069=)
c.12330C>T (p.Pro4110=)
c.12327C>T (p.Pro4109=)
c.12312C>T (p.Pro4104=)
c.12306C>T (p.Pro4102=)
c.12303C>T (p.Pro4101=)
c.12276C>T (p.Pro4092=)
c.12258C>T (p.Pro4086=)
c.12204C>T (p.Pro4068=)
c.12123C>T (p.Pro4041=)
c.12066C>T (p.Pro4022=)
c.10152C>T (p.Pro3384=)
c.9330C>T (p.Pro3110=)
n.12170C>T
c.12372C>T (p.Pro4124=)
c.12300C>T (p.Pro4100=)
c.12162C>T (p.Pro4054=)
c.10248C>T (p.Pro3416=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2090477G>CCA493044589PKD1c.12252C>G (p.Pro4084=)
c.12249C>G (p.Pro4083=)
n.280C>G
c.9207C>G (p.Pro3069=)
c.12330C>G (p.Pro4110=)
c.12327C>G (p.Pro4109=)
c.12312C>G (p.Pro4104=)
c.12306C>G (p.Pro4102=)
c.12303C>G (p.Pro4101=)
c.12276C>G (p.Pro4092=)
c.12258C>G (p.Pro4086=)
c.12204C>G (p.Pro4068=)
c.12123C>G (p.Pro4041=)
c.12066C>G (p.Pro4022=)
c.10152C>G (p.Pro3384=)
c.9330C>G (p.Pro3110=)
n.12170C>G
c.12372C>G (p.Pro4124=)
c.12300C>G (p.Pro4100=)
c.12162C>G (p.Pro4054=)
c.10248C>G (p.Pro3416=)
16g.2090477G=CA2202041859PKD1c.12252C= (p.Pro4084=)
c.12249C= (p.Pro4083=)
n.280C=
c.9207C= (p.Pro3069=)
c.12330C= (p.Pro4110=)
c.12327C= (p.Pro4109=)
c.12312C= (p.Pro4104=)
c.12306C= (p.Pro4102=)
c.12303C= (p.Pro4101=)
c.12276C= (p.Pro4092=)
c.12258C= (p.Pro4086=)
c.12204C= (p.Pro4068=)
c.12123C= (p.Pro4041=)
c.12066C= (p.Pro4022=)
c.10152C= (p.Pro3384=)
c.9330C= (p.Pro3110=)
n.12170C=
c.12372C= (p.Pro4124=)
c.12300C= (p.Pro4100=)
c.12162C= (p.Pro4054=)
c.10248C= (p.Pro3416=)
16g.2090477G>TCA493044591PKD1c.12252C>A (p.Pro4084=)
c.12249C>A (p.Pro4083=)
n.280C>A
c.9207C>A (p.Pro3069=)
c.12330C>A (p.Pro4110=)
c.12327C>A (p.Pro4109=)
c.12312C>A (p.Pro4104=)
c.12306C>A (p.Pro4102=)
c.12303C>A (p.Pro4101=)
c.12276C>A (p.Pro4092=)
c.12258C>A (p.Pro4086=)
c.12204C>A (p.Pro4068=)
c.12123C>A (p.Pro4041=)
c.12066C>A (p.Pro4022=)
c.10152C>A (p.Pro3384=)
c.9330C>A (p.Pro3110=)
n.12170C>A
c.12372C>A (p.Pro4124=)
c.12300C>A (p.Pro4100=)
c.12162C>A (p.Pro4054=)
c.10248C>A (p.Pro3416=)
 gnomAD v4
16g.2090478G>ACA7828706PKD1c.12251C>T (p.Pro4084Leu)
c.12248C>T (p.Pro4083Leu)
n.279C>T
c.9206C>T (p.Pro3069Leu)
c.12329C>T (p.Pro4110Leu)
c.12326C>T (p.Pro4109Leu)
c.12311C>T (p.Pro4104Leu)
c.12305C>T (p.Pro4102Leu)
c.12302C>T (p.Pro4101Leu)
c.12275C>T (p.Pro4092Leu)
c.12257C>T (p.Pro4086Leu)
c.12203C>T (p.Pro4068Leu)
c.12122C>T (p.Pro4041Leu)
c.12065C>T (p.Pro4022Leu)
c.10151C>T (p.Pro3384Leu)
c.9329C>T (p.Pro3110Leu)
n.12169C>T
c.12371C>T (p.Pro4124Leu)
c.12299C>T (p.Pro4100Leu)
c.12161C>T (p.Pro4054Leu)
c.10247C>T (p.Pro3416Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090478G>CCA394326000PKD1c.12251C>G (p.Pro4084Arg)
c.12248C>G (p.Pro4083Arg)
n.279C>G
c.9206C>G (p.Pro3069Arg)
c.12329C>G (p.Pro4110Arg)
c.12326C>G (p.Pro4109Arg)
c.12311C>G (p.Pro4104Arg)
c.12305C>G (p.Pro4102Arg)
c.12302C>G (p.Pro4101Arg)
c.12275C>G (p.Pro4092Arg)
c.12257C>G (p.Pro4086Arg)
c.12203C>G (p.Pro4068Arg)
c.12122C>G (p.Pro4041Arg)
c.12065C>G (p.Pro4022Arg)
c.10151C>G (p.Pro3384Arg)
c.9329C>G (p.Pro3110Arg)
n.12169C>G
c.12371C>G (p.Pro4124Arg)
c.12299C>G (p.Pro4100Arg)
c.12161C>G (p.Pro4054Arg)
c.10247C>G (p.Pro3416Arg)
 dbSNP gnomAD v2 gnomAD v4
16g.2090478G=CA2202041864PKD1c.12251C= (p.Pro4084=)
c.12248C= (p.Pro4083=)
n.279C=
c.9206C= (p.Pro3069=)
c.12329C= (p.Pro4110=)
c.12326C= (p.Pro4109=)
c.12311C= (p.Pro4104=)
c.12305C= (p.Pro4102=)
c.12302C= (p.Pro4101=)
c.12275C= (p.Pro4092=)
c.12257C= (p.Pro4086=)
c.12203C= (p.Pro4068=)
c.12122C= (p.Pro4041=)
c.12065C= (p.Pro4022=)
c.10151C= (p.Pro3384=)
c.9329C= (p.Pro3110=)
n.12169C=
c.12371C= (p.Pro4124=)
c.12299C= (p.Pro4100=)
c.12161C= (p.Pro4054=)
c.10247C= (p.Pro3416=)
16g.2090478G>TCA7828707PKD1c.12251C>A (p.Pro4084His)
c.12248C>A (p.Pro4083His)
n.279C>A
c.9206C>A (p.Pro3069His)
c.12329C>A (p.Pro4110His)
c.12326C>A (p.Pro4109His)
c.12311C>A (p.Pro4104His)
c.12305C>A (p.Pro4102His)
c.12302C>A (p.Pro4101His)
c.12275C>A (p.Pro4092His)
c.12257C>A (p.Pro4086His)
c.12203C>A (p.Pro4068His)
c.12122C>A (p.Pro4041His)
c.12065C>A (p.Pro4022His)
c.10151C>A (p.Pro3384His)
c.9329C>A (p.Pro3110His)
n.12169C>A
c.12371C>A (p.Pro4124His)
c.12299C>A (p.Pro4100His)
c.12161C>A (p.Pro4054His)
c.10247C>A (p.Pro3416His)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2090480_2090503dupCA2631135335PKD1c.12228_12251dup (p.Pro4084_Leu4085insAlaGluSerTrpHisLeuSerPro)
c.12225_12248dup (p.Pro4083_Leu4084insAlaGluSerTrpHisLeuSerPro)
n.256_279dup
c.9183_9206dup (p.Pro3069_Leu3070insAlaGluSerTrpHisLeuSerPro)
c.12306_12329dup (p.Pro4110_Leu4111insAlaGluSerTrpHisLeuSerPro)
c.12303_12326dup (p.Pro4109_Leu4110insAlaGluSerTrpHisLeuSerPro)
c.12288_12311dup (p.Pro4104_Leu4105insAlaGluSerTrpHisLeuSerPro)
c.12282_12305dup (p.Pro4102_Leu4103insAlaGluSerTrpHisLeuSerPro)
c.12279_12302dup (p.Pro4101_Leu4102insAlaGluSerTrpHisLeuSerPro)
c.12252_12275dup (p.Pro4092_Leu4093insAlaGluSerTrpHisLeuSerPro)
c.12234_12257dup (p.Pro4086_Leu4087insAlaGluSerTrpHisLeuSerPro)
c.12180_12203dup (p.Pro4068_Leu4069insAlaGluSerTrpHisLeuSerPro)
c.12099_12122dup (p.Pro4041_Leu4042insAlaGluSerTrpHisLeuSerPro)
c.12042_12065dup (p.Pro4022_Leu4023insAlaGluSerTrpHisLeuSerPro)
c.10128_10151dup (p.Pro3384_Leu3385insAlaGluSerTrpHisLeuSerPro)
c.9306_9329dup (p.Pro3110_Leu3111insAlaGluSerTrpHisLeuSerPro)
n.12146_12169dup
c.12348_12371dup (p.Pro4124_Leu4125insAlaGluSerTrpHisLeuSerPro)
c.12276_12299dup (p.Pro4100_Leu4101insAlaGluSerTrpHisLeuSerPro)
c.12138_12161dup (p.Pro4054_Leu4055insAlaGluSerTrpHisLeuSerPro)
c.10224_10247dup (p.Pro3416_Leu3417insAlaGluSerTrpHisLeuSerPro)
 gnomAD v4
16g.2090479G>ACA394326008PKD1c.12250C>T (p.Pro4084Ser)
c.12247C>T (p.Pro4083Ser)
n.278C>T
c.9205C>T (p.Pro3069Ser)
c.12328C>T (p.Pro4110Ser)
c.12325C>T (p.Pro4109Ser)
c.12310C>T (p.Pro4104Ser)
c.12304C>T (p.Pro4102Ser)
c.12301C>T (p.Pro4101Ser)
c.12274C>T (p.Pro4092Ser)
c.12256C>T (p.Pro4086Ser)
c.12202C>T (p.Pro4068Ser)
c.12121C>T (p.Pro4041Ser)
c.12064C>T (p.Pro4022Ser)
c.10150C>T (p.Pro3384Ser)
c.9328C>T (p.Pro3110Ser)
n.12168C>T
c.12370C>T (p.Pro4124Ser)
c.12298C>T (p.Pro4100Ser)
c.12160C>T (p.Pro4054Ser)
c.10246C>T (p.Pro3416Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2090479G>CCA394326012PKD1c.12250C>G (p.Pro4084Ala)
c.12247C>G (p.Pro4083Ala)
n.278C>G
c.9205C>G (p.Pro3069Ala)
c.12328C>G (p.Pro4110Ala)
c.12325C>G (p.Pro4109Ala)
c.12310C>G (p.Pro4104Ala)
c.12304C>G (p.Pro4102Ala)
c.12301C>G (p.Pro4101Ala)
c.12274C>G (p.Pro4092Ala)
c.12256C>G (p.Pro4086Ala)
c.12202C>G (p.Pro4068Ala)
c.12121C>G (p.Pro4041Ala)
c.12064C>G (p.Pro4022Ala)
c.10150C>G (p.Pro3384Ala)
c.9328C>G (p.Pro3110Ala)
n.12168C>G
c.12370C>G (p.Pro4124Ala)
c.12298C>G (p.Pro4100Ala)
c.12160C>G (p.Pro4054Ala)
c.10246C>G (p.Pro3416Ala)
 dbSNP
16g.2090479G=CA2202041871PKD1c.12250C= (p.Pro4084=)
c.12247C= (p.Pro4083=)
n.278C=
c.9205C= (p.Pro3069=)
c.12328C= (p.Pro4110=)
c.12325C= (p.Pro4109=)
c.12310C= (p.Pro4104=)
c.12304C= (p.Pro4102=)
c.12301C= (p.Pro4101=)
c.12274C= (p.Pro4092=)
c.12256C= (p.Pro4086=)
c.12202C= (p.Pro4068=)
c.12121C= (p.Pro4041=)
c.12064C= (p.Pro4022=)
c.10150C= (p.Pro3384=)
c.9328C= (p.Pro3110=)
n.12168C=
c.12370C= (p.Pro4124=)
c.12298C= (p.Pro4100=)
c.12160C= (p.Pro4054=)
c.10246C= (p.Pro3416=)
16g.2090479G>TCA394326015PKD1c.12250C>A (p.Pro4084Thr)
c.12247C>A (p.Pro4083Thr)
n.278C>A
c.9205C>A (p.Pro3069Thr)
c.12328C>A (p.Pro4110Thr)
c.12325C>A (p.Pro4109Thr)
c.12310C>A (p.Pro4104Thr)
c.12304C>A (p.Pro4102Thr)
c.12301C>A (p.Pro4101Thr)
c.12274C>A (p.Pro4092Thr)
c.12256C>A (p.Pro4086Thr)
c.12202C>A (p.Pro4068Thr)
c.12121C>A (p.Pro4041Thr)
c.12064C>A (p.Pro4022Thr)
c.10150C>A (p.Pro3384Thr)
c.9328C>A (p.Pro3110Thr)
n.12168C>A
c.12370C>A (p.Pro4124Thr)
c.12298C>A (p.Pro4100Thr)
c.12160C>A (p.Pro4054Thr)
c.10246C>A (p.Pro3416Thr)
16g.2090480T>ACA493044596PKD1c.12249A>T (p.Ser4083=)
c.12246A>T (p.Ser4082=)
n.277A>T
c.9204A>T (p.Ser3068=)
c.12327A>T (p.Ser4109=)
c.12324A>T (p.Ser4108=)
c.12309A>T (p.Ser4103=)
c.12303A>T (p.Ser4101=)
c.12300A>T (p.Ser4100=)
c.12273A>T (p.Ser4091=)
c.12255A>T (p.Ser4085=)
c.12201A>T (p.Ser4067=)
c.12120A>T (p.Ser4040=)
c.12063A>T (p.Ser4021=)
c.10149A>T (p.Ser3383=)
c.9327A>T (p.Ser3109=)
n.12167A>T
c.12369A>T (p.Ser4123=)
c.12297A>T (p.Ser4099=)
c.12159A>T (p.Ser4053=)
c.10245A>T (p.Ser3415=)
 gnomAD v4
16g.2090480T>CCA493044599PKD1c.12249A>G (p.Ser4083=)
c.12246A>G (p.Ser4082=)
n.277A>G
c.9204A>G (p.Ser3068=)
c.12327A>G (p.Ser4109=)
c.12324A>G (p.Ser4108=)
c.12309A>G (p.Ser4103=)
c.12303A>G (p.Ser4101=)
c.12300A>G (p.Ser4100=)
c.12273A>G (p.Ser4091=)
c.12255A>G (p.Ser4085=)
c.12201A>G (p.Ser4067=)
c.12120A>G (p.Ser4040=)
c.12063A>G (p.Ser4021=)
c.10149A>G (p.Ser3383=)
c.9327A>G (p.Ser3109=)
n.12167A>G
c.12369A>G (p.Ser4123=)
c.12297A>G (p.Ser4099=)
c.12159A>G (p.Ser4053=)
c.10245A>G (p.Ser3415=)
 dbSNP gnomAD v4
16g.2090480T>GCA493044598PKD1c.12249A>C (p.Ser4083=)
c.12246A>C (p.Ser4082=)
n.277A>C
c.9204A>C (p.Ser3068=)
c.12327A>C (p.Ser4109=)
c.12324A>C (p.Ser4108=)
c.12309A>C (p.Ser4103=)
c.12303A>C (p.Ser4101=)
c.12300A>C (p.Ser4100=)
c.12273A>C (p.Ser4091=)
c.12255A>C (p.Ser4085=)
c.12201A>C (p.Ser4067=)
c.12120A>C (p.Ser4040=)
c.12063A>C (p.Ser4021=)
c.10149A>C (p.Ser3383=)
c.9327A>C (p.Ser3109=)
n.12167A>C
c.12369A>C (p.Ser4123=)
c.12297A>C (p.Ser4099=)
c.12159A>C (p.Ser4053=)
c.10245A>C (p.Ser3415=)
16g.2090480T=CA2202041874PKD1c.12249A= (p.Ser4083=)
c.12246A= (p.Ser4082=)
n.277A=
c.9204A= (p.Ser3068=)
c.12327A= (p.Ser4109=)
c.12324A= (p.Ser4108=)
c.12309A= (p.Ser4103=)
c.12303A= (p.Ser4101=)
c.12300A= (p.Ser4100=)
c.12273A= (p.Ser4091=)
c.12255A= (p.Ser4085=)
c.12201A= (p.Ser4067=)
c.12120A= (p.Ser4040=)
c.12063A= (p.Ser4021=)
c.10149A= (p.Ser3383=)
c.9327A= (p.Ser3109=)
n.12167A=
c.12369A= (p.Ser4123=)
c.12297A= (p.Ser4099=)
c.12159A= (p.Ser4053=)
c.10245A= (p.Ser3415=)
16g.2090481G>ACA394326020PKD1c.12248C>T (p.Ser4083Leu)
c.12245C>T (p.Ser4082Leu)
n.276C>T
c.9203C>T (p.Ser3068Leu)
c.12326C>T (p.Ser4109Leu)
c.12323C>T (p.Ser4108Leu)
c.12308C>T (p.Ser4103Leu)
c.12302C>T (p.Ser4101Leu)
c.12299C>T (p.Ser4100Leu)
c.12272C>T (p.Ser4091Leu)
c.12254C>T (p.Ser4085Leu)
c.12200C>T (p.Ser4067Leu)
c.12119C>T (p.Ser4040Leu)
c.12062C>T (p.Ser4021Leu)
c.10148C>T (p.Ser3383Leu)
c.9326C>T (p.Ser3109Leu)
n.12166C>T
c.12368C>T (p.Ser4123Leu)
c.12296C>T (p.Ser4099Leu)
c.12158C>T (p.Ser4053Leu)
c.10244C>T (p.Ser3415Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.2090481G>CCA394326023PKD1c.12248C>G (p.Ser4083Ter)
c.12245C>G (p.Ser4082Ter)
n.276C>G
c.9203C>G (p.Ser3068Ter)
c.12326C>G (p.Ser4109Ter)
c.12323C>G (p.Ser4108Ter)
c.12308C>G (p.Ser4103Ter)
c.12302C>G (p.Ser4101Ter)
c.12299C>G (p.Ser4100Ter)
c.12272C>G (p.Ser4091Ter)
c.12254C>G (p.Ser4085Ter)
c.12200C>G (p.Ser4067Ter)
c.12119C>G (p.Ser4040Ter)
c.12062C>G (p.Ser4021Ter)
c.10148C>G (p.Ser3383Ter)
c.9326C>G (p.Ser3109Ter)
n.12166C>G
c.12368C>G (p.Ser4123Ter)
c.12296C>G (p.Ser4099Ter)
c.12158C>G (p.Ser4053Ter)
c.10244C>G (p.Ser3415Ter)
16g.2090481G=CA2202041877PKD1c.12248C= (p.Ser4083=)
c.12245C= (p.Ser4082=)
n.276C=
c.9203C= (p.Ser3068=)
c.12326C= (p.Ser4109=)
c.12323C= (p.Ser4108=)
c.12308C= (p.Ser4103=)
c.12302C= (p.Ser4101=)
c.12299C= (p.Ser4100=)
c.12272C= (p.Ser4091=)
c.12254C= (p.Ser4085=)
c.12200C= (p.Ser4067=)
c.12119C= (p.Ser4040=)
c.12062C= (p.Ser4021=)
c.10148C= (p.Ser3383=)
c.9326C= (p.Ser3109=)
n.12166C=
c.12368C= (p.Ser4123=)
c.12296C= (p.Ser4099=)
c.12158C= (p.Ser4053=)
c.10244C= (p.Ser3415=)
16g.2090481G>TCA394326027PKD1c.12248C>A (p.Ser4083Ter)
c.12245C>A (p.Ser4082Ter)
n.276C>A
c.9203C>A (p.Ser3068Ter)
c.12326C>A (p.Ser4109Ter)
c.12323C>A (p.Ser4108Ter)
c.12308C>A (p.Ser4103Ter)
c.12302C>A (p.Ser4101Ter)
c.12299C>A (p.Ser4100Ter)
c.12272C>A (p.Ser4091Ter)
c.12254C>A (p.Ser4085Ter)
c.12200C>A (p.Ser4067Ter)
c.12119C>A (p.Ser4040Ter)
c.12062C>A (p.Ser4021Ter)
c.10148C>A (p.Ser3383Ter)
c.9326C>A (p.Ser3109Ter)
n.12166C>A
c.12368C>A (p.Ser4123Ter)
c.12296C>A (p.Ser4099Ter)
c.12158C>A (p.Ser4053Ter)
c.10244C>A (p.Ser3415Ter)
16g.2090482A>CCA394326028PKD1c.12247T>G (p.Ser4083Ala)
c.12244T>G (p.Ser4082Ala)
n.275T>G
c.9202T>G (p.Ser3068Ala)
c.12325T>G (p.Ser4109Ala)
c.12322T>G (p.Ser4108Ala)
c.12307T>G (p.Ser4103Ala)
c.12301T>G (p.Ser4101Ala)
c.12298T>G (p.Ser4100Ala)
c.12271T>G (p.Ser4091Ala)
c.12253T>G (p.Ser4085Ala)
c.12199T>G (p.Ser4067Ala)
c.12118T>G (p.Ser4040Ala)
c.12061T>G (p.Ser4021Ala)
c.10147T>G (p.Ser3383Ala)
c.9325T>G (p.Ser3109Ala)
n.12165T>G
c.12367T>G (p.Ser4123Ala)
c.12295T>G (p.Ser4099Ala)
c.12157T>G (p.Ser4053Ala)
c.10243T>G (p.Ser3415Ala)
16g.2090482A>GCA394326029PKD1c.12247T>C (p.Ser4083Pro)
c.12244T>C (p.Ser4082Pro)
n.275T>C
c.9202T>C (p.Ser3068Pro)
c.12325T>C (p.Ser4109Pro)
c.12322T>C (p.Ser4108Pro)
c.12307T>C (p.Ser4103Pro)
c.12301T>C (p.Ser4101Pro)
c.12298T>C (p.Ser4100Pro)
c.12271T>C (p.Ser4091Pro)
c.12253T>C (p.Ser4085Pro)
c.12199T>C (p.Ser4067Pro)
c.12118T>C (p.Ser4040Pro)
c.12061T>C (p.Ser4021Pro)
c.10147T>C (p.Ser3383Pro)
c.9325T>C (p.Ser3109Pro)
n.12165T>C
c.12367T>C (p.Ser4123Pro)
c.12295T>C (p.Ser4099Pro)
c.12157T>C (p.Ser4053Pro)
c.10243T>C (p.Ser3415Pro)
 gnomAD v4
16g.2090482A>TCA394326030PKD1c.12247T>A (p.Ser4083Thr)
c.12244T>A (p.Ser4082Thr)
n.275T>A
c.9202T>A (p.Ser3068Thr)
c.12325T>A (p.Ser4109Thr)
c.12322T>A (p.Ser4108Thr)
c.12307T>A (p.Ser4103Thr)
c.12301T>A (p.Ser4101Thr)
c.12298T>A (p.Ser4100Thr)
c.12271T>A (p.Ser4091Thr)
c.12253T>A (p.Ser4085Thr)
c.12199T>A (p.Ser4067Thr)
c.12118T>A (p.Ser4040Thr)
c.12061T>A (p.Ser4021Thr)
c.10147T>A (p.Ser3383Thr)
c.9325T>A (p.Ser3109Thr)
n.12165T>A
c.12367T>A (p.Ser4123Thr)
c.12295T>A (p.Ser4099Thr)
c.12157T>A (p.Ser4053Thr)
c.10243T>A (p.Ser3415Thr)
16g.2090483C>ACA493044606PKD1c.12246G>T (p.Leu4082=)
c.12243G>T (p.Leu4081=)
n.274G>T
c.9201G>T (p.Leu3067=)
c.12324G>T (p.Leu4108=)
c.12321G>T (p.Leu4107=)
c.12306G>T (p.Leu4102=)
c.12300G>T (p.Leu4100=)
c.12297G>T (p.Leu4099=)
c.12270G>T (p.Leu4090=)
c.12252G>T (p.Leu4084=)
c.12198G>T (p.Leu4066=)
c.12117G>T (p.Leu4039=)
c.12060G>T (p.Leu4020=)
c.10146G>T (p.Leu3382=)
c.9324G>T (p.Leu3108=)
n.12164G>T
c.12366G>T (p.Leu4122=)
c.12294G>T (p.Leu4098=)
c.12156G>T (p.Leu4052=)
c.10242G>T (p.Leu3414=)
16g.2090483C>GCA493044607PKD1c.12246G>C (p.Leu4082=)
c.12243G>C (p.Leu4081=)
n.274G>C
c.9201G>C (p.Leu3067=)
c.12324G>C (p.Leu4108=)
c.12321G>C (p.Leu4107=)
c.12306G>C (p.Leu4102=)
c.12300G>C (p.Leu4100=)
c.12297G>C (p.Leu4099=)
c.12270G>C (p.Leu4090=)
c.12252G>C (p.Leu4084=)
c.12198G>C (p.Leu4066=)
c.12117G>C (p.Leu4039=)
c.12060G>C (p.Leu4020=)
c.10146G>C (p.Leu3382=)
c.9324G>C (p.Leu3108=)
n.12164G>C
c.12366G>C (p.Leu4122=)
c.12294G>C (p.Leu4098=)
c.12156G>C (p.Leu4052=)
c.10242G>C (p.Leu3414=)
16g.2090483C>TCA493044610PKD1c.12246G>A (p.Leu4082=)
c.12243G>A (p.Leu4081=)
n.274G>A
c.9201G>A (p.Leu3067=)
c.12324G>A (p.Leu4108=)
c.12321G>A (p.Leu4107=)
c.12306G>A (p.Leu4102=)
c.12300G>A (p.Leu4100=)
c.12297G>A (p.Leu4099=)
c.12270G>A (p.Leu4090=)
c.12252G>A (p.Leu4084=)
c.12198G>A (p.Leu4066=)
c.12117G>A (p.Leu4039=)
c.12060G>A (p.Leu4020=)
c.10146G>A (p.Leu3382=)
c.9324G>A (p.Leu3108=)
n.12164G>A
c.12366G>A (p.Leu4122=)
c.12294G>A (p.Leu4098=)
c.12156G>A (p.Leu4052=)
c.10242G>A (p.Leu3414=)
16g.2090484delCA2695221546PKD1c.12245del (p.Leu4082ArgfsTer?)
c.12242del (p.Leu4081ArgfsTer?)
n.273del
c.9200del (p.Leu3067ArgfsTer?)
c.12323del (p.Leu4108ArgfsTer?)
c.12320del (p.Leu4107ArgfsTer?)
c.12305del (p.Leu4102ArgfsTer?)
c.12299del (p.Leu4100ArgfsTer?)
c.12296del (p.Leu4099ArgfsTer?)
c.12269del (p.Leu4090ArgfsTer?)
c.12251del (p.Leu4084ArgfsTer?)
c.12197del (p.Leu4066ArgfsTer?)
c.12116del (p.Leu4039ArgfsTer?)
c.12059del (p.Leu4020ArgfsTer?)
c.10145del (p.Leu3382ArgfsTer?)
c.9323del (p.Leu3108ArgfsTer?)
n.12163del
c.12365del (p.Leu4122ArgfsTer?)
c.12293del (p.Leu4098ArgfsTer?)
c.12155del (p.Leu4052ArgfsTer?)
c.10241del (p.Leu3414ArgfsTer?)
16g.2090484A>CCA394326045PKD1c.12245T>G (p.Leu4082Arg)
c.12242T>G (p.Leu4081Arg)
n.273T>G
c.9200T>G (p.Leu3067Arg)
c.12323T>G (p.Leu4108Arg)
c.12320T>G (p.Leu4107Arg)
c.12305T>G (p.Leu4102Arg)
c.12299T>G (p.Leu4100Arg)
c.12296T>G (p.Leu4099Arg)
c.12269T>G (p.Leu4090Arg)
c.12251T>G (p.Leu4084Arg)
c.12197T>G (p.Leu4066Arg)
c.12116T>G (p.Leu4039Arg)
c.12059T>G (p.Leu4020Arg)
c.10145T>G (p.Leu3382Arg)
c.9323T>G (p.Leu3108Arg)
n.12163T>G
c.12365T>G (p.Leu4122Arg)
c.12293T>G (p.Leu4098Arg)
c.12155T>G (p.Leu4052Arg)
c.10241T>G (p.Leu3414Arg)
16g.2090484A>GCA394326038PKD1c.12245T>C (p.Leu4082Pro)
c.12242T>C (p.Leu4081Pro)
n.273T>C
c.9200T>C (p.Leu3067Pro)
c.12323T>C (p.Leu4108Pro)
c.12320T>C (p.Leu4107Pro)
c.12305T>C (p.Leu4102Pro)
c.12299T>C (p.Leu4100Pro)
c.12296T>C (p.Leu4099Pro)
c.12269T>C (p.Leu4090Pro)
c.12251T>C (p.Leu4084Pro)
c.12197T>C (p.Leu4066Pro)
c.12116T>C (p.Leu4039Pro)
c.12059T>C (p.Leu4020Pro)
c.10145T>C (p.Leu3382Pro)
c.9323T>C (p.Leu3108Pro)
n.12163T>C
c.12365T>C (p.Leu4122Pro)
c.12293T>C (p.Leu4098Pro)
c.12155T>C (p.Leu4052Pro)
c.10241T>C (p.Leu3414Pro)
 gnomAD v4
16g.2090484A>TCA394326035PKD1c.12245T>A (p.Leu4082Gln)
c.12242T>A (p.Leu4081Gln)
n.273T>A
c.9200T>A (p.Leu3067Gln)
c.12323T>A (p.Leu4108Gln)
c.12320T>A (p.Leu4107Gln)
c.12305T>A (p.Leu4102Gln)
c.12299T>A (p.Leu4100Gln)
c.12296T>A (p.Leu4099Gln)
c.12269T>A (p.Leu4090Gln)
c.12251T>A (p.Leu4084Gln)
c.12197T>A (p.Leu4066Gln)
c.12116T>A (p.Leu4039Gln)
c.12059T>A (p.Leu4020Gln)
c.10145T>A (p.Leu3382Gln)
c.9323T>A (p.Leu3108Gln)
n.12163T>A
c.12365T>A (p.Leu4122Gln)
c.12293T>A (p.Leu4098Gln)
c.12155T>A (p.Leu4052Gln)
c.10241T>A (p.Leu3414Gln)
16g.2090484_2090485delCA2580091170PKD1c.12244_12245del (p.Leu4082ValfsTer?)
c.12241_12242del (p.Leu4081ValfsTer?)
n.272_273del
c.9199_9200del (p.Leu3067ValfsTer?)
c.12322_12323del (p.Leu4108ValfsTer?)
c.12319_12320del (p.Leu4107ValfsTer?)
c.12304_12305del (p.Leu4102ValfsTer?)
c.12298_12299del (p.Leu4100ValfsTer?)
c.12295_12296del (p.Leu4099ValfsTer?)
c.12268_12269del (p.Leu4090ValfsTer?)
c.12250_12251del (p.Leu4084ValfsTer?)
c.12196_12197del (p.Leu4066ValfsTer?)
c.12115_12116del (p.Leu4039ValfsTer?)
c.12058_12059del (p.Leu4020ValfsTer?)
c.10144_10145del (p.Leu3382ValfsTer?)
c.9322_9323del (p.Leu3108ValfsTer?)
n.12162_12163del
c.12364_12365del (p.Leu4122ValfsTer?)
c.12292_12293del (p.Leu4098ValfsTer?)
c.12154_12155del (p.Leu4052ValfsTer?)
c.10240_10241del (p.Leu3414ValfsTer?)
 ClinVar
16g.2090485G>ACA7828708PKD1c.12244C>T (p.Leu4082=)
c.12241C>T (p.Leu4081=)
n.272C>T
c.9199C>T (p.Leu3067=)
c.12322C>T (p.Leu4108=)
c.12319C>T (p.Leu4107=)
c.12304C>T (p.Leu4102=)
c.12298C>T (p.Leu4100=)
c.12295C>T (p.Leu4099=)
c.12268C>T (p.Leu4090=)
c.12250C>T (p.Leu4084=)
c.12196C>T (p.Leu4066=)
c.12115C>T (p.Leu4039=)
c.12058C>T (p.Leu4020=)
c.10144C>T (p.Leu3382=)
c.9322C>T (p.Leu3108=)
n.12162C>T
c.12364C>T (p.Leu4122=)
c.12292C>T (p.Leu4098=)
c.12154C>T (p.Leu4052=)
c.10240C>T (p.Leu3414=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090485G>CCA394326049PKD1c.12244C>G (p.Leu4082Val)
c.12241C>G (p.Leu4081Val)
n.272C>G
c.9199C>G (p.Leu3067Val)
c.12322C>G (p.Leu4108Val)
c.12319C>G (p.Leu4107Val)
c.12304C>G (p.Leu4102Val)
c.12298C>G (p.Leu4100Val)
c.12295C>G (p.Leu4099Val)
c.12268C>G (p.Leu4090Val)
c.12250C>G (p.Leu4084Val)
c.12196C>G (p.Leu4066Val)
c.12115C>G (p.Leu4039Val)
c.12058C>G (p.Leu4020Val)
c.10144C>G (p.Leu3382Val)
c.9322C>G (p.Leu3108Val)
n.12162C>G
c.12364C>G (p.Leu4122Val)
c.12292C>G (p.Leu4098Val)
c.12154C>G (p.Leu4052Val)
c.10240C>G (p.Leu3414Val)
 dbSNP gnomAD v2 gnomAD v4
16g.2090485G=CA2202041882PKD1c.12244C= (p.Leu4082=)
c.12241C= (p.Leu4081=)
n.272C=
c.9199C= (p.Leu3067=)
c.12322C= (p.Leu4108=)
c.12319C= (p.Leu4107=)
c.12304C= (p.Leu4102=)
c.12298C= (p.Leu4100=)
c.12295C= (p.Leu4099=)
c.12268C= (p.Leu4090=)
c.12250C= (p.Leu4084=)
c.12196C= (p.Leu4066=)
c.12115C= (p.Leu4039=)
c.12058C= (p.Leu4020=)
c.10144C= (p.Leu3382=)
c.9322C= (p.Leu3108=)
n.12162C=
c.12364C= (p.Leu4122=)
c.12292C= (p.Leu4098=)
c.12154C= (p.Leu4052=)
c.10240C= (p.Leu3414=)
16g.2090485G>TCA394326053PKD1c.12244C>A (p.Leu4082Met)
c.12241C>A (p.Leu4081Met)
n.272C>A
c.9199C>A (p.Leu3067Met)
c.12322C>A (p.Leu4108Met)
c.12319C>A (p.Leu4107Met)
c.12304C>A (p.Leu4102Met)
c.12298C>A (p.Leu4100Met)
c.12295C>A (p.Leu4099Met)
c.12268C>A (p.Leu4090Met)
c.12250C>A (p.Leu4084Met)
c.12196C>A (p.Leu4066Met)
c.12115C>A (p.Leu4039Met)
c.12058C>A (p.Leu4020Met)
c.10144C>A (p.Leu3382Met)
c.9322C>A (p.Leu3108Met)
n.12162C>A
c.12364C>A (p.Leu4122Met)
c.12292C>A (p.Leu4098Met)
c.12154C>A (p.Leu4052Met)
c.10240C>A (p.Leu3414Met)
16g.2090486G>ACA493044614PKD1c.12243C>T (p.His4081=)
c.12240C>T (p.His4080=)
n.271C>T
c.9198C>T (p.His3066=)
c.12321C>T (p.His4107=)
c.12318C>T (p.His4106=)
c.12303C>T (p.His4101=)
c.12297C>T (p.His4099=)
c.12294C>T (p.His4098=)
c.12267C>T (p.His4089=)
c.12249C>T (p.His4083=)
c.12195C>T (p.His4065=)
c.12114C>T (p.His4038=)
c.12057C>T (p.His4019=)
c.10143C>T (p.His3381=)
c.9321C>T (p.His3107=)
n.12161C>T
c.12363C>T (p.His4121=)
c.12291C>T (p.His4097=)
c.12153C>T (p.His4051=)
c.10239C>T (p.His3413=)
 dbSNP gnomAD v3 gnomAD v4
16g.2090486G>CCA394326077PKD1c.12243C>G (p.His4081Gln)
c.12240C>G (p.His4080Gln)
n.271C>G
c.9198C>G (p.His3066Gln)
c.12321C>G (p.His4107Gln)
c.12318C>G (p.His4106Gln)
c.12303C>G (p.His4101Gln)
c.12297C>G (p.His4099Gln)
c.12294C>G (p.His4098Gln)
c.12267C>G (p.His4089Gln)
c.12249C>G (p.His4083Gln)
c.12195C>G (p.His4065Gln)
c.12114C>G (p.His4038Gln)
c.12057C>G (p.His4019Gln)
c.10143C>G (p.His3381Gln)
c.9321C>G (p.His3107Gln)
n.12161C>G
c.12363C>G (p.His4121Gln)
c.12291C>G (p.His4097Gln)
c.12153C>G (p.His4051Gln)
c.10239C>G (p.His3413Gln)
 dbSNP gnomAD v2 gnomAD v4
16g.2090486G=CA2202041887PKD1c.12243C= (p.His4081=)
c.12240C= (p.His4080=)
n.271C=
c.9198C= (p.His3066=)
c.12321C= (p.His4107=)
c.12318C= (p.His4106=)
c.12303C= (p.His4101=)
c.12297C= (p.His4099=)
c.12294C= (p.His4098=)
c.12267C= (p.His4089=)
c.12249C= (p.His4083=)
c.12195C= (p.His4065=)
c.12114C= (p.His4038=)
c.12057C= (p.His4019=)
c.10143C= (p.His3381=)
c.9321C= (p.His3107=)
n.12161C=
c.12363C= (p.His4121=)
c.12291C= (p.His4097=)
c.12153C= (p.His4051=)
c.10239C= (p.His3413=)
16g.2090486G>TCA394326079PKD1c.12243C>A (p.His4081Gln)
c.12240C>A (p.His4080Gln)
n.271C>A
c.9198C>A (p.His3066Gln)
c.12321C>A (p.His4107Gln)
c.12318C>A (p.His4106Gln)
c.12303C>A (p.His4101Gln)
c.12297C>A (p.His4099Gln)
c.12294C>A (p.His4098Gln)
c.12267C>A (p.His4089Gln)
c.12249C>A (p.His4083Gln)
c.12195C>A (p.His4065Gln)
c.12114C>A (p.His4038Gln)
c.12057C>A (p.His4019Gln)
c.10143C>A (p.His3381Gln)
c.9321C>A (p.His3107Gln)
n.12161C>A
c.12363C>A (p.His4121Gln)
c.12291C>A (p.His4097Gln)
c.12153C>A (p.His4051Gln)
c.10239C>A (p.His3413Gln)
16g.2090487T>ACA394326083PKD1c.12242A>T (p.His4081Leu)
c.12239A>T (p.His4080Leu)
n.270A>T
c.9197A>T (p.His3066Leu)
c.12320A>T (p.His4107Leu)
c.12317A>T (p.His4106Leu)
c.12302A>T (p.His4101Leu)
c.12296A>T (p.His4099Leu)
c.12293A>T (p.His4098Leu)
c.12266A>T (p.His4089Leu)
c.12248A>T (p.His4083Leu)
c.12194A>T (p.His4065Leu)
c.12113A>T (p.His4038Leu)
c.12056A>T (p.His4019Leu)
c.10142A>T (p.His3381Leu)
c.9320A>T (p.His3107Leu)
n.12160A>T
c.12362A>T (p.His4121Leu)
c.12290A>T (p.His4097Leu)
c.12152A>T (p.His4051Leu)
c.10238A>T (p.His3413Leu)
 gnomAD v4
16g.2090487T>CCA394326087PKD1c.12242A>G (p.His4081Arg)
c.12239A>G (p.His4080Arg)
n.270A>G
c.9197A>G (p.His3066Arg)
c.12320A>G (p.His4107Arg)
c.12317A>G (p.His4106Arg)
c.12302A>G (p.His4101Arg)
c.12296A>G (p.His4099Arg)
c.12293A>G (p.His4098Arg)
c.12266A>G (p.His4089Arg)
c.12248A>G (p.His4083Arg)
c.12194A>G (p.His4065Arg)
c.12113A>G (p.His4038Arg)
c.12056A>G (p.His4019Arg)
c.10142A>G (p.His3381Arg)
c.9320A>G (p.His3107Arg)
n.12160A>G
c.12362A>G (p.His4121Arg)
c.12290A>G (p.His4097Arg)
c.12152A>G (p.His4051Arg)
c.10238A>G (p.His3413Arg)
16g.2090487T>GCA394326091PKD1c.12242A>C (p.His4081Pro)
c.12239A>C (p.His4080Pro)
n.270A>C
c.9197A>C (p.His3066Pro)
c.12320A>C (p.His4107Pro)
c.12317A>C (p.His4106Pro)
c.12302A>C (p.His4101Pro)
c.12296A>C (p.His4099Pro)
c.12293A>C (p.His4098Pro)
c.12266A>C (p.His4089Pro)
c.12248A>C (p.His4083Pro)
c.12194A>C (p.His4065Pro)
c.12113A>C (p.His4038Pro)
c.12056A>C (p.His4019Pro)
c.10142A>C (p.His3381Pro)
c.9320A>C (p.His3107Pro)
n.12160A>C
c.12362A>C (p.His4121Pro)
c.12290A>C (p.His4097Pro)
c.12152A>C (p.His4051Pro)
c.10238A>C (p.His3413Pro)
16g.2090488G>ACA7828709PKD1c.12241C>T (p.His4081Tyr)
c.12238C>T (p.His4080Tyr)
n.269C>T
c.9196C>T (p.His3066Tyr)
c.12319C>T (p.His4107Tyr)
c.12316C>T (p.His4106Tyr)
c.12301C>T (p.His4101Tyr)
c.12295C>T (p.His4099Tyr)
c.12292C>T (p.His4098Tyr)
c.12265C>T (p.His4089Tyr)
c.12247C>T (p.His4083Tyr)
c.12193C>T (p.His4065Tyr)
c.12112C>T (p.His4038Tyr)
c.12055C>T (p.His4019Tyr)
c.10141C>T (p.His3381Tyr)
c.9319C>T (p.His3107Tyr)
n.12159C>T
c.12361C>T (p.His4121Tyr)
c.12289C>T (p.His4097Tyr)
c.12151C>T (p.His4051Tyr)
c.10237C>T (p.His3413Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090488G>CCA394326101PKD1c.12241C>G (p.His4081Asp)
c.12238C>G (p.His4080Asp)
n.269C>G
c.9196C>G (p.His3066Asp)
c.12319C>G (p.His4107Asp)
c.12316C>G (p.His4106Asp)
c.12301C>G (p.His4101Asp)
c.12295C>G (p.His4099Asp)
c.12292C>G (p.His4098Asp)
c.12265C>G (p.His4089Asp)
c.12247C>G (p.His4083Asp)
c.12193C>G (p.His4065Asp)
c.12112C>G (p.His4038Asp)
c.12055C>G (p.His4019Asp)
c.10141C>G (p.His3381Asp)
c.9319C>G (p.His3107Asp)
n.12159C>G
c.12361C>G (p.His4121Asp)
c.12289C>G (p.His4097Asp)
c.12151C>G (p.His4051Asp)
c.10237C>G (p.His3413Asp)
16g.2090488G=CA2202041890PKD1c.12241C= (p.His4081=)
c.12238C= (p.His4080=)
n.269C=
c.9196C= (p.His3066=)
c.12319C= (p.His4107=)
c.12316C= (p.His4106=)
c.12301C= (p.His4101=)
c.12295C= (p.His4099=)
c.12292C= (p.His4098=)
c.12265C= (p.His4089=)
c.12247C= (p.His4083=)
c.12193C= (p.His4065=)
c.12112C= (p.His4038=)
c.12055C= (p.His4019=)
c.10141C= (p.His3381=)
c.9319C= (p.His3107=)
n.12159C=
c.12361C= (p.His4121=)
c.12289C= (p.His4097=)
c.12151C= (p.His4051=)
c.10237C= (p.His3413=)
16g.2090488G>TCA7828710PKD1c.12241C>A (p.His4081Asn)
c.12238C>A (p.His4080Asn)
n.269C>A
c.9196C>A (p.His3066Asn)
c.12319C>A (p.His4107Asn)
c.12316C>A (p.His4106Asn)
c.12301C>A (p.His4101Asn)
c.12295C>A (p.His4099Asn)
c.12292C>A (p.His4098Asn)
c.12265C>A (p.His4089Asn)
c.12247C>A (p.His4083Asn)
c.12193C>A (p.His4065Asn)
c.12112C>A (p.His4038Asn)
c.12055C>A (p.His4019Asn)
c.10141C>A (p.His3381Asn)
c.9319C>A (p.His3107Asn)
n.12159C>A
c.12361C>A (p.His4121Asn)
c.12289C>A (p.His4097Asn)
c.12151C>A (p.His4051Asn)
c.10237C>A (p.His3413Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2090489_2090498delCA2695221547PKD1c.12232_12241del (p.Glu4078ThrfsTer?)
c.12229_12238del (p.Glu4077ThrfsTer?)
n.260_269del
c.9187_9196del (p.Glu3063ThrfsTer?)
c.12310_12319del (p.Glu4104ThrfsTer?)
c.12307_12316del (p.Glu4103ThrfsTer?)
c.12292_12301del (p.Glu4098ThrfsTer?)
c.12286_12295del (p.Glu4096ThrfsTer?)
c.12283_12292del (p.Glu4095ThrfsTer?)
c.12256_12265del (p.Glu4086ThrfsTer?)
c.12238_12247del (p.Glu4080ThrfsTer?)
c.12184_12193del (p.Glu4062ThrfsTer?)
c.12103_12112del (p.Glu4035ThrfsTer?)
c.12046_12055del (p.Glu4016ThrfsTer?)
c.10132_10141del (p.Glu3378ThrfsTer?)
c.9310_9319del (p.Glu3104ThrfsTer?)
n.12150_12159del
c.12352_12361del (p.Glu4118ThrfsTer?)
c.12280_12289del (p.Glu4094ThrfsTer?)
c.12142_12151del (p.Glu4048ThrfsTer?)
c.10228_10237del (p.Glu3410ThrfsTer?)
16g.2090489C>ACA394326111PKD1c.12240G>T (p.Trp4080Cys)
c.12237G>T (p.Trp4079Cys)
n.268G>T
c.9195G>T (p.Trp3065Cys)
c.12318G>T (p.Trp4106Cys)
c.12315G>T (p.Trp4105Cys)
c.12300G>T (p.Trp4100Cys)
c.12294G>T (p.Trp4098Cys)
c.12291G>T (p.Trp4097Cys)
c.12264G>T (p.Trp4088Cys)
c.12246G>T (p.Trp4082Cys)
c.12192G>T (p.Trp4064Cys)
c.12111G>T (p.Trp4037Cys)
c.12054G>T (p.Trp4018Cys)
c.10140G>T (p.Trp3380Cys)
c.9318G>T (p.Trp3106Cys)
n.12158G>T
c.12360G>T (p.Trp4120Cys)
c.12288G>T (p.Trp4096Cys)
c.12150G>T (p.Trp4050Cys)
c.10236G>T (p.Trp3412Cys)
 dbSNP gnomAD v2 gnomAD v4
16g.2090489C=CA2202041896PKD1c.12240G= (p.Trp4080=)
c.12237G= (p.Trp4079=)
n.268G=
c.9195G= (p.Trp3065=)
c.12318G= (p.Trp4106=)
c.12315G= (p.Trp4105=)
c.12300G= (p.Trp4100=)
c.12294G= (p.Trp4098=)
c.12291G= (p.Trp4097=)
c.12264G= (p.Trp4088=)
c.12246G= (p.Trp4082=)
c.12192G= (p.Trp4064=)
c.12111G= (p.Trp4037=)
c.12054G= (p.Trp4018=)
c.10140G= (p.Trp3380=)
c.9318G= (p.Trp3106=)
n.12158G=
c.12360G= (p.Trp4120=)
c.12288G= (p.Trp4096=)
c.12150G= (p.Trp4050=)
c.10236G= (p.Trp3412=)
16g.2090489C>GCA394326112PKD1c.12240G>C (p.Trp4080Cys)
c.12237G>C (p.Trp4079Cys)
n.268G>C
c.9195G>C (p.Trp3065Cys)
c.12318G>C (p.Trp4106Cys)
c.12315G>C (p.Trp4105Cys)
c.12300G>C (p.Trp4100Cys)
c.12294G>C (p.Trp4098Cys)
c.12291G>C (p.Trp4097Cys)
c.12264G>C (p.Trp4088Cys)
c.12246G>C (p.Trp4082Cys)
c.12192G>C (p.Trp4064Cys)
c.12111G>C (p.Trp4037Cys)
c.12054G>C (p.Trp4018Cys)
c.10140G>C (p.Trp3380Cys)
c.9318G>C (p.Trp3106Cys)
n.12158G>C
c.12360G>C (p.Trp4120Cys)
c.12288G>C (p.Trp4096Cys)
c.12150G>C (p.Trp4050Cys)
c.10236G>C (p.Trp3412Cys)
16g.2090489C>TCA394326115PKD1c.12240G>A (p.Trp4080Ter)
c.12237G>A (p.Trp4079Ter)
n.268G>A
c.9195G>A (p.Trp3065Ter)
c.12318G>A (p.Trp4106Ter)
c.12315G>A (p.Trp4105Ter)
c.12300G>A (p.Trp4100Ter)
c.12294G>A (p.Trp4098Ter)
c.12291G>A (p.Trp4097Ter)
c.12264G>A (p.Trp4088Ter)
c.12246G>A (p.Trp4082Ter)
c.12192G>A (p.Trp4064Ter)
c.12111G>A (p.Trp4037Ter)
c.12054G>A (p.Trp4018Ter)
c.10140G>A (p.Trp3380Ter)
c.9318G>A (p.Trp3106Ter)
n.12158G>A
c.12360G>A (p.Trp4120Ter)
c.12288G>A (p.Trp4096Ter)
c.12150G>A (p.Trp4050Ter)
c.10236G>A (p.Trp3412Ter)
16g.2090489_2090499delinsCCAGGACTCGGCA2202041899PKD1c.12230_12240delinsCCGAGTCCTGG (p.Ala4077=)
c.12227_12237delinsCCGAGTCCTGG (p.Ala4076=)
n.258_268delinsCCGAGTCCTGG
c.9185_9195delinsCCGAGTCCTGG (p.Ala3062=)
c.12308_12318delinsCCGAGTCCTGG (p.Ala4103=)
c.12305_12315delinsCCGAGTCCTGG (p.Ala4102=)
c.12290_12300delinsCCGAGTCCTGG (p.Ala4097=)
c.12284_12294delinsCCGAGTCCTGG (p.Ala4095=)
c.12281_12291delinsCCGAGTCCTGG (p.Ala4094=)
c.12254_12264delinsCCGAGTCCTGG (p.Ala4085=)
c.12236_12246delinsCCGAGTCCTGG (p.Ala4079=)
c.12182_12192delinsCCGAGTCCTGG (p.Ala4061=)
c.12101_12111delinsCCGAGTCCTGG (p.Ala4034=)
c.12044_12054delinsCCGAGTCCTGG (p.Ala4015=)
c.10130_10140delinsCCGAGTCCTGG (p.Ala3377=)
c.9308_9318delinsCCGAGTCCTGG (p.Ala3103=)
n.12148_12158delinsCCGAGTCCTGG
c.12350_12360delinsCCGAGTCCTGG (p.Ala4117=)
c.12278_12288delinsCCGAGTCCTGG (p.Ala4093=)
c.12140_12150delinsCCGAGTCCTGG (p.Ala4047=)
c.10226_10236delinsCCGAGTCCTGG (p.Ala3409=)
16g.2090490C>ACA394326119PKD1c.12239G>T (p.Trp4080Leu)
c.12236G>T (p.Trp4079Leu)
n.267G>T
c.9194G>T (p.Trp3065Leu)
c.12317G>T (p.Trp4106Leu)
c.12314G>T (p.Trp4105Leu)
c.12299G>T (p.Trp4100Leu)
c.12293G>T (p.Trp4098Leu)
c.12290G>T (p.Trp4097Leu)
c.12263G>T (p.Trp4088Leu)
c.12245G>T (p.Trp4082Leu)
c.12191G>T (p.Trp4064Leu)
c.12110G>T (p.Trp4037Leu)
c.12053G>T (p.Trp4018Leu)
c.10139G>T (p.Trp3380Leu)
c.9317G>T (p.Trp3106Leu)
n.12157G>T
c.12359G>T (p.Trp4120Leu)
c.12287G>T (p.Trp4096Leu)
c.12149G>T (p.Trp4050Leu)
c.10235G>T (p.Trp3412Leu)
16g.2090490C>GCA394326122PKD1c.12239G>C (p.Trp4080Ser)
c.12236G>C (p.Trp4079Ser)
n.267G>C
c.9194G>C (p.Trp3065Ser)
c.12317G>C (p.Trp4106Ser)
c.12314G>C (p.Trp4105Ser)
c.12299G>C (p.Trp4100Ser)
c.12293G>C (p.Trp4098Ser)
c.12290G>C (p.Trp4097Ser)
c.12263G>C (p.Trp4088Ser)
c.12245G>C (p.Trp4082Ser)
c.12191G>C (p.Trp4064Ser)
c.12110G>C (p.Trp4037Ser)
c.12053G>C (p.Trp4018Ser)
c.10139G>C (p.Trp3380Ser)
c.9317G>C (p.Trp3106Ser)
n.12157G>C
c.12359G>C (p.Trp4120Ser)
c.12287G>C (p.Trp4096Ser)
c.12149G>C (p.Trp4050Ser)
c.10235G>C (p.Trp3412Ser)
16g.2090490C>TCA394326118PKD1c.12239G>A (p.Trp4080Ter)
c.12236G>A (p.Trp4079Ter)
n.267G>A
c.9194G>A (p.Trp3065Ter)
c.12317G>A (p.Trp4106Ter)
c.12314G>A (p.Trp4105Ter)
c.12299G>A (p.Trp4100Ter)
c.12293G>A (p.Trp4098Ter)
c.12290G>A (p.Trp4097Ter)
c.12263G>A (p.Trp4088Ter)
c.12245G>A (p.Trp4082Ter)
c.12191G>A (p.Trp4064Ter)
c.12110G>A (p.Trp4037Ter)
c.12053G>A (p.Trp4018Ter)
c.10139G>A (p.Trp3380Ter)
c.9317G>A (p.Trp3106Ter)
n.12157G>A
c.12359G>A (p.Trp4120Ter)
c.12287G>A (p.Trp4096Ter)
c.12149G>A (p.Trp4050Ter)
c.10235G>A (p.Trp3412Ter)
16g.2090496_2090505delCA658653829PKD1c.12230_12239del (p.Ala4077GlyfsTer?)
c.12227_12236del (p.Ala4076GlyfsTer?)
n.258_267del
c.9185_9194del (p.Ala3062GlyfsTer?)
c.12308_12317del (p.Ala4103GlyfsTer?)
c.12305_12314del (p.Ala4102GlyfsTer?)
c.12290_12299del (p.Ala4097GlyfsTer?)
c.12284_12293del (p.Ala4095GlyfsTer?)
c.12281_12290del (p.Ala4094GlyfsTer?)
c.12254_12263del (p.Ala4085GlyfsTer?)
c.12236_12245del (p.Ala4079GlyfsTer?)
c.12182_12191del (p.Ala4061GlyfsTer?)
c.12101_12110del (p.Ala4034GlyfsTer?)
c.12044_12053del (p.Ala4015GlyfsTer?)
c.10130_10139del (p.Ala3377GlyfsTer?)
c.9308_9317del (p.Ala3103GlyfsTer?)
n.12148_12157del
c.12350_12359del (p.Ala4117GlyfsTer?)
c.12278_12287del (p.Ala4093GlyfsTer?)
c.12140_12149del (p.Ala4047GlyfsTer?)
c.10226_10235del (p.Ala3409GlyfsTer?)
 ClinVar dbSNP
16g.2090492_2090506dupCA2631135409PKD1c.12225_12239dup (p.Ser4079_Trp4080insCysProAlaGluSer)
c.12222_12236dup (p.Ser4078_Trp4079insCysProAlaGluSer)
n.253_267dup
c.9180_9194dup (p.Ser3064_Trp3065insCysProAlaGluSer)
c.12303_12317dup (p.Ser4105_Trp4106insCysProAlaGluSer)
c.12300_12314dup (p.Ser4104_Trp4105insCysProAlaGluSer)
c.12285_12299dup (p.Ser4099_Trp4100insCysProAlaGluSer)
c.12279_12293dup (p.Ser4097_Trp4098insCysProAlaGluSer)
c.12276_12290dup (p.Ser4096_Trp4097insCysProAlaGluSer)
c.12249_12263dup (p.Ser4087_Trp4088insCysProAlaGluSer)
c.12231_12245dup (p.Ser4081_Trp4082insCysProAlaGluSer)
c.12177_12191dup (p.Ser4063_Trp4064insCysProAlaGluSer)
c.12096_12110dup (p.Ser4036_Trp4037insCysProAlaGluSer)
c.12039_12053dup (p.Ser4017_Trp4018insCysProAlaGluSer)
c.10125_10139dup (p.Ser3379_Trp3380insCysProAlaGluSer)
c.9303_9317dup (p.Ser3105_Trp3106insCysProAlaGluSer)
n.12143_12157dup
c.12345_12359dup (p.Ser4119_Trp4120insCysProAlaGluSer)
c.12273_12287dup (p.Ser4095_Trp4096insCysProAlaGluSer)
c.12135_12149dup (p.Ser4049_Trp4050insCysProAlaGluSer)
c.10221_10235dup (p.Ser3411_Trp3412insCysProAlaGluSer)
 gnomAD v4
16g.2090491A>CCA394326127PKD1c.12238T>G (p.Trp4080Gly)
c.12235T>G (p.Trp4079Gly)
n.266T>G
c.9193T>G (p.Trp3065Gly)
c.12316T>G (p.Trp4106Gly)
c.12313T>G (p.Trp4105Gly)
c.12298T>G (p.Trp4100Gly)
c.12292T>G (p.Trp4098Gly)
c.12289T>G (p.Trp4097Gly)
c.12262T>G (p.Trp4088Gly)
c.12244T>G (p.Trp4082Gly)
c.12190T>G (p.Trp4064Gly)
c.12109T>G (p.Trp4037Gly)
c.12052T>G (p.Trp4018Gly)
c.10138T>G (p.Trp3380Gly)
c.9316T>G (p.Trp3106Gly)
n.12156T>G
c.12358T>G (p.Trp4120Gly)
c.12286T>G (p.Trp4096Gly)
c.12148T>G (p.Trp4050Gly)
c.10234T>G (p.Trp3412Gly)
 gnomAD v4
16g.2090491A>GCA394326129PKD1c.12238T>C (p.Trp4080Arg)
c.12235T>C (p.Trp4079Arg)
n.266T>C
c.9193T>C (p.Trp3065Arg)
c.12316T>C (p.Trp4106Arg)
c.12313T>C (p.Trp4105Arg)
c.12298T>C (p.Trp4100Arg)
c.12292T>C (p.Trp4098Arg)
c.12289T>C (p.Trp4097Arg)
c.12262T>C (p.Trp4088Arg)
c.12244T>C (p.Trp4082Arg)
c.12190T>C (p.Trp4064Arg)
c.12109T>C (p.Trp4037Arg)
c.12052T>C (p.Trp4018Arg)
c.10138T>C (p.Trp3380Arg)
c.9316T>C (p.Trp3106Arg)
n.12156T>C
c.12358T>C (p.Trp4120Arg)
c.12286T>C (p.Trp4096Arg)
c.12148T>C (p.Trp4050Arg)
c.10234T>C (p.Trp3412Arg)
16g.2090491A>TCA394326131PKD1c.12238T>A (p.Trp4080Arg)
c.12235T>A (p.Trp4079Arg)
n.266T>A
c.9193T>A (p.Trp3065Arg)
c.12316T>A (p.Trp4106Arg)
c.12313T>A (p.Trp4105Arg)
c.12298T>A (p.Trp4100Arg)
c.12292T>A (p.Trp4098Arg)
c.12289T>A (p.Trp4097Arg)
c.12262T>A (p.Trp4088Arg)
c.12244T>A (p.Trp4082Arg)
c.12190T>A (p.Trp4064Arg)
c.12109T>A (p.Trp4037Arg)
c.12052T>A (p.Trp4018Arg)
c.10138T>A (p.Trp3380Arg)
c.9316T>A (p.Trp3106Arg)
n.12156T>A
c.12358T>A (p.Trp4120Arg)
c.12286T>A (p.Trp4096Arg)
c.12148T>A (p.Trp4050Arg)
c.10234T>A (p.Trp3412Arg)
16g.2090492G>ACA7828711PKD1c.12237C>T (p.Ser4079=)
c.12234C>T (p.Ser4078=)
n.265C>T
c.9192C>T (p.Ser3064=)
c.12315C>T (p.Ser4105=)
c.12312C>T (p.Ser4104=)
c.12297C>T (p.Ser4099=)
c.12291C>T (p.Ser4097=)
c.12288C>T (p.Ser4096=)
c.12261C>T (p.Ser4087=)
c.12243C>T (p.Ser4081=)
c.12189C>T (p.Ser4063=)
c.12108C>T (p.Ser4036=)
c.12051C>T (p.Ser4017=)
c.10137C>T (p.Ser3379=)
c.9315C>T (p.Ser3105=)
n.12155C>T
c.12357C>T (p.Ser4119=)
c.12285C>T (p.Ser4095=)
c.12147C>T (p.Ser4049=)
c.10233C>T (p.Ser3411=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090492G>CCA7828712PKD1c.12237C>G (p.Ser4079=)
c.12234C>G (p.Ser4078=)
n.265C>G
c.9192C>G (p.Ser3064=)
c.12315C>G (p.Ser4105=)
c.12312C>G (p.Ser4104=)
c.12297C>G (p.Ser4099=)
c.12291C>G (p.Ser4097=)
c.12288C>G (p.Ser4096=)
c.12261C>G (p.Ser4087=)
c.12243C>G (p.Ser4081=)
c.12189C>G (p.Ser4063=)
c.12108C>G (p.Ser4036=)
c.12051C>G (p.Ser4017=)
c.10137C>G (p.Ser3379=)
c.9315C>G (p.Ser3105=)
n.12155C>G
c.12357C>G (p.Ser4119=)
c.12285C>G (p.Ser4095=)
c.12147C>G (p.Ser4049=)
c.10233C>G (p.Ser3411=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090492G=CA2202041901PKD1c.12237C= (p.Ser4079=)
c.12234C= (p.Ser4078=)
n.265C=
c.9192C= (p.Ser3064=)
c.12315C= (p.Ser4105=)
c.12312C= (p.Ser4104=)
c.12297C= (p.Ser4099=)
c.12291C= (p.Ser4097=)
c.12288C= (p.Ser4096=)
c.12261C= (p.Ser4087=)
c.12243C= (p.Ser4081=)
c.12189C= (p.Ser4063=)
c.12108C= (p.Ser4036=)
c.12051C= (p.Ser4017=)
c.10137C= (p.Ser3379=)
c.9315C= (p.Ser3105=)
n.12155C=
c.12357C= (p.Ser4119=)
c.12285C= (p.Ser4095=)
c.12147C= (p.Ser4049=)
c.10233C= (p.Ser3411=)
16g.2090492G>TCA493044219PKD1c.12237C>A (p.Ser4079=)
c.12234C>A (p.Ser4078=)
n.265C>A
c.9192C>A (p.Ser3064=)
c.12315C>A (p.Ser4105=)
c.12312C>A (p.Ser4104=)
c.12297C>A (p.Ser4099=)
c.12291C>A (p.Ser4097=)
c.12288C>A (p.Ser4096=)
c.12261C>A (p.Ser4087=)
c.12243C>A (p.Ser4081=)
c.12189C>A (p.Ser4063=)
c.12108C>A (p.Ser4036=)
c.12051C>A (p.Ser4017=)
c.10137C>A (p.Ser3379=)
c.9315C>A (p.Ser3105=)
n.12155C>A
c.12357C>A (p.Ser4119=)
c.12285C>A (p.Ser4095=)
c.12147C>A (p.Ser4049=)
c.10233C>A (p.Ser3411=)
16g.2090493G>ACA394326138PKD1c.12236C>T (p.Ser4079Phe)
c.12233C>T (p.Ser4078Phe)
n.264C>T
c.9191C>T (p.Ser3064Phe)
c.12314C>T (p.Ser4105Phe)
c.12311C>T (p.Ser4104Phe)
c.12296C>T (p.Ser4099Phe)
c.12290C>T (p.Ser4097Phe)
c.12287C>T (p.Ser4096Phe)
c.12260C>T (p.Ser4087Phe)
c.12242C>T (p.Ser4081Phe)
c.12188C>T (p.Ser4063Phe)
c.12107C>T (p.Ser4036Phe)
c.12050C>T (p.Ser4017Phe)
c.10136C>T (p.Ser3379Phe)
c.9314C>T (p.Ser3105Phe)
n.12154C>T
c.12356C>T (p.Ser4119Phe)
c.12284C>T (p.Ser4095Phe)
c.12146C>T (p.Ser4049Phe)
c.10232C>T (p.Ser3411Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2090493G>CCA394326141PKD1c.12236C>G (p.Ser4079Cys)
c.12233C>G (p.Ser4078Cys)
n.264C>G
c.9191C>G (p.Ser3064Cys)
c.12314C>G (p.Ser4105Cys)
c.12311C>G (p.Ser4104Cys)
c.12296C>G (p.Ser4099Cys)
c.12290C>G (p.Ser4097Cys)
c.12287C>G (p.Ser4096Cys)
c.12260C>G (p.Ser4087Cys)
c.12242C>G (p.Ser4081Cys)
c.12188C>G (p.Ser4063Cys)
c.12107C>G (p.Ser4036Cys)
c.12050C>G (p.Ser4017Cys)
c.10136C>G (p.Ser3379Cys)
c.9314C>G (p.Ser3105Cys)
n.12154C>G
c.12356C>G (p.Ser4119Cys)
c.12284C>G (p.Ser4095Cys)
c.12146C>G (p.Ser4049Cys)
c.10232C>G (p.Ser3411Cys)
 gnomAD v4
16g.2090493G=CA2202041904PKD1c.12236C= (p.Ser4079=)
c.12233C= (p.Ser4078=)
n.264C=
c.9191C= (p.Ser3064=)
c.12314C= (p.Ser4105=)
c.12311C= (p.Ser4104=)
c.12296C= (p.Ser4099=)
c.12290C= (p.Ser4097=)
c.12287C= (p.Ser4096=)
c.12260C= (p.Ser4087=)
c.12242C= (p.Ser4081=)
c.12188C= (p.Ser4063=)
c.12107C= (p.Ser4036=)
c.12050C= (p.Ser4017=)
c.10136C= (p.Ser3379=)
c.9314C= (p.Ser3105=)
n.12154C=
c.12356C= (p.Ser4119=)
c.12284C= (p.Ser4095=)
c.12146C= (p.Ser4049=)
c.10232C= (p.Ser3411=)
16g.2090493G>TCA394326142PKD1c.12236C>A (p.Ser4079Tyr)
c.12233C>A (p.Ser4078Tyr)
n.264C>A
c.9191C>A (p.Ser3064Tyr)
c.12314C>A (p.Ser4105Tyr)
c.12311C>A (p.Ser4104Tyr)
c.12296C>A (p.Ser4099Tyr)
c.12290C>A (p.Ser4097Tyr)
c.12287C>A (p.Ser4096Tyr)
c.12260C>A (p.Ser4087Tyr)
c.12242C>A (p.Ser4081Tyr)
c.12188C>A (p.Ser4063Tyr)
c.12107C>A (p.Ser4036Tyr)
c.12050C>A (p.Ser4017Tyr)
c.10136C>A (p.Ser3379Tyr)
c.9314C>A (p.Ser3105Tyr)
n.12154C>A
c.12356C>A (p.Ser4119Tyr)
c.12284C>A (p.Ser4095Tyr)
c.12146C>A (p.Ser4049Tyr)
c.10232C>A (p.Ser3411Tyr)
16g.2090494A>CCA394326144PKD1c.12235T>G (p.Ser4079Ala)
c.12232T>G (p.Ser4078Ala)
n.263T>G
c.9190T>G (p.Ser3064Ala)
c.12313T>G (p.Ser4105Ala)
c.12310T>G (p.Ser4104Ala)
c.12295T>G (p.Ser4099Ala)
c.12289T>G (p.Ser4097Ala)
c.12286T>G (p.Ser4096Ala)
c.12259T>G (p.Ser4087Ala)
c.12241T>G (p.Ser4081Ala)
c.12187T>G (p.Ser4063Ala)
c.12106T>G (p.Ser4036Ala)
c.12049T>G (p.Ser4017Ala)
c.10135T>G (p.Ser3379Ala)
c.9313T>G (p.Ser3105Ala)
n.12153T>G
c.12355T>G (p.Ser4119Ala)
c.12283T>G (p.Ser4095Ala)
c.12145T>G (p.Ser4049Ala)
c.10231T>G (p.Ser3411Ala)
16g.2090494A>GCA394326148PKD1c.12235T>C (p.Ser4079Pro)
c.12232T>C (p.Ser4078Pro)
n.263T>C
c.9190T>C (p.Ser3064Pro)
c.12313T>C (p.Ser4105Pro)
c.12310T>C (p.Ser4104Pro)
c.12295T>C (p.Ser4099Pro)
c.12289T>C (p.Ser4097Pro)
c.12286T>C (p.Ser4096Pro)
c.12259T>C (p.Ser4087Pro)
c.12241T>C (p.Ser4081Pro)
c.12187T>C (p.Ser4063Pro)
c.12106T>C (p.Ser4036Pro)
c.12049T>C (p.Ser4017Pro)
c.10135T>C (p.Ser3379Pro)
c.9313T>C (p.Ser3105Pro)
n.12153T>C
c.12355T>C (p.Ser4119Pro)
c.12283T>C (p.Ser4095Pro)
c.12145T>C (p.Ser4049Pro)
c.10231T>C (p.Ser3411Pro)
 gnomAD v4
16g.2090494A>TCA394326149PKD1c.12235T>A (p.Ser4079Thr)
c.12232T>A (p.Ser4078Thr)
n.263T>A
c.9190T>A (p.Ser3064Thr)
c.12313T>A (p.Ser4105Thr)
c.12310T>A (p.Ser4104Thr)
c.12295T>A (p.Ser4099Thr)
c.12289T>A (p.Ser4097Thr)
c.12286T>A (p.Ser4096Thr)
c.12259T>A (p.Ser4087Thr)
c.12241T>A (p.Ser4081Thr)
c.12187T>A (p.Ser4063Thr)
c.12106T>A (p.Ser4036Thr)
c.12049T>A (p.Ser4017Thr)
c.10135T>A (p.Ser3379Thr)
c.9313T>A (p.Ser3105Thr)
n.12153T>A
c.12355T>A (p.Ser4119Thr)
c.12283T>A (p.Ser4095Thr)
c.12145T>A (p.Ser4049Thr)
c.10231T>A (p.Ser3411Thr)
16g.2090495C>ACA394326153PKD1c.12234G>T (p.Glu4078Asp)
c.12231G>T (p.Glu4077Asp)
n.262G>T
c.9189G>T (p.Glu3063Asp)
c.12312G>T (p.Glu4104Asp)
c.12309G>T (p.Glu4103Asp)
c.12294G>T (p.Glu4098Asp)
c.12288G>T (p.Glu4096Asp)
c.12285G>T (p.Glu4095Asp)
c.12258G>T (p.Glu4086Asp)
c.12240G>T (p.Glu4080Asp)
c.12186G>T (p.Glu4062Asp)
c.12105G>T (p.Glu4035Asp)
c.12048G>T (p.Glu4016Asp)
c.10134G>T (p.Glu3378Asp)
c.9312G>T (p.Glu3104Asp)
n.12152G>T
c.12354G>T (p.Glu4118Asp)
c.12282G>T (p.Glu4094Asp)
c.12144G>T (p.Glu4048Asp)
c.10230G>T (p.Glu3410Asp)
16g.2090495C>GCA394326159PKD1c.12234G>C (p.Glu4078Asp)
c.12231G>C (p.Glu4077Asp)
n.262G>C
c.9189G>C (p.Glu3063Asp)
c.12312G>C (p.Glu4104Asp)
c.12309G>C (p.Glu4103Asp)
c.12294G>C (p.Glu4098Asp)
c.12288G>C (p.Glu4096Asp)
c.12285G>C (p.Glu4095Asp)
c.12258G>C (p.Glu4086Asp)
c.12240G>C (p.Glu4080Asp)
c.12186G>C (p.Glu4062Asp)
c.12105G>C (p.Glu4035Asp)
c.12048G>C (p.Glu4016Asp)
c.10134G>C (p.Glu3378Asp)
c.9312G>C (p.Glu3104Asp)
n.12152G>C
c.12354G>C (p.Glu4118Asp)
c.12282G>C (p.Glu4094Asp)
c.12144G>C (p.Glu4048Asp)
c.10230G>C (p.Glu3410Asp)
 gnomAD v4
16g.2090495C>TCA493044223PKD1c.12234G>A (p.Glu4078=)
c.12231G>A (p.Glu4077=)
n.262G>A
c.9189G>A (p.Glu3063=)
c.12312G>A (p.Glu4104=)
c.12309G>A (p.Glu4103=)
c.12294G>A (p.Glu4098=)
c.12288G>A (p.Glu4096=)
c.12285G>A (p.Glu4095=)
c.12258G>A (p.Glu4086=)
c.12240G>A (p.Glu4080=)
c.12186G>A (p.Glu4062=)
c.12105G>A (p.Glu4035=)
c.12048G>A (p.Glu4016=)
c.10134G>A (p.Glu3378=)
c.9312G>A (p.Glu3104=)
n.12152G>A
c.12354G>A (p.Glu4118=)
c.12282G>A (p.Glu4094=)
c.12144G>A (p.Glu4048=)
c.10230G>A (p.Glu3410=)
16g.2090496T>ACA394326161PKD1c.12233A>T (p.Glu4078Val)
c.12230A>T (p.Glu4077Val)
n.261A>T
c.9188A>T (p.Glu3063Val)
c.12311A>T (p.Glu4104Val)
c.12308A>T (p.Glu4103Val)
c.12293A>T (p.Glu4098Val)
c.12287A>T (p.Glu4096Val)
c.12284A>T (p.Glu4095Val)
c.12257A>T (p.Glu4086Val)
c.12239A>T (p.Glu4080Val)
c.12185A>T (p.Glu4062Val)
c.12104A>T (p.Glu4035Val)
c.12047A>T (p.Glu4016Val)
c.10133A>T (p.Glu3378Val)
c.9311A>T (p.Glu3104Val)
n.12151A>T
c.12353A>T (p.Glu4118Val)
c.12281A>T (p.Glu4094Val)
c.12143A>T (p.Glu4048Val)
c.10229A>T (p.Glu3410Val)
16g.2090496T>CCA394326172PKD1c.12233A>G (p.Glu4078Gly)
c.12230A>G (p.Glu4077Gly)
n.261A>G
c.9188A>G (p.Glu3063Gly)
c.12311A>G (p.Glu4104Gly)
c.12308A>G (p.Glu4103Gly)
c.12293A>G (p.Glu4098Gly)
c.12287A>G (p.Glu4096Gly)
c.12284A>G (p.Glu4095Gly)
c.12257A>G (p.Glu4086Gly)
c.12239A>G (p.Glu4080Gly)
c.12185A>G (p.Glu4062Gly)
c.12104A>G (p.Glu4035Gly)
c.12047A>G (p.Glu4016Gly)
c.10133A>G (p.Glu3378Gly)
c.9311A>G (p.Glu3104Gly)
n.12151A>G
c.12353A>G (p.Glu4118Gly)
c.12281A>G (p.Glu4094Gly)
c.12143A>G (p.Glu4048Gly)
c.10229A>G (p.Glu3410Gly)
16g.2090496T>GCA394326166PKD1c.12233A>C (p.Glu4078Ala)
c.12230A>C (p.Glu4077Ala)
n.261A>C
c.9188A>C (p.Glu3063Ala)
c.12311A>C (p.Glu4104Ala)
c.12308A>C (p.Glu4103Ala)
c.12293A>C (p.Glu4098Ala)
c.12287A>C (p.Glu4096Ala)
c.12284A>C (p.Glu4095Ala)
c.12257A>C (p.Glu4086Ala)
c.12239A>C (p.Glu4080Ala)
c.12185A>C (p.Glu4062Ala)
c.12104A>C (p.Glu4035Ala)
c.12047A>C (p.Glu4016Ala)
c.10133A>C (p.Glu3378Ala)
c.9311A>C (p.Glu3104Ala)
n.12151A>C
c.12353A>C (p.Glu4118Ala)
c.12281A>C (p.Glu4094Ala)
c.12143A>C (p.Glu4048Ala)
c.10229A>C (p.Glu3410Ala)
16g.2090496_2090497delinsTCCA2202041905PKD1c.12232_12233delinsGA (p.Glu4078=)
c.12229_12230delinsGA (p.Glu4077=)
n.260_261delinsGA
c.9187_9188delinsGA (p.Glu3063=)
c.12310_12311delinsGA (p.Glu4104=)
c.12307_12308delinsGA (p.Glu4103=)
c.12292_12293delinsGA (p.Glu4098=)
c.12286_12287delinsGA (p.Glu4096=)
c.12283_12284delinsGA (p.Glu4095=)
c.12256_12257delinsGA (p.Glu4086=)
c.12238_12239delinsGA (p.Glu4080=)
c.12184_12185delinsGA (p.Glu4062=)
c.12103_12104delinsGA (p.Glu4035=)
c.12046_12047delinsGA (p.Glu4016=)
c.10132_10133delinsGA (p.Glu3378=)
c.9310_9311delinsGA (p.Glu3104=)
n.12150_12151delinsGA
c.12352_12353delinsGA (p.Glu4118=)
c.12280_12281delinsGA (p.Glu4094=)
c.12142_12143delinsGA (p.Glu4048=)
c.10228_10229delinsGA (p.Glu3410=)
16g.2090497delCA1139664265PKD1c.12232del (p.Glu4078SerfsTer?)
c.12229del (p.Glu4077SerfsTer?)
n.260del
c.9187del (p.Glu3063SerfsTer?)
c.12310del (p.Glu4104SerfsTer?)
c.12307del (p.Glu4103SerfsTer?)
c.12292del (p.Glu4098SerfsTer?)
c.12286del (p.Glu4096SerfsTer?)
c.12283del (p.Glu4095SerfsTer?)
c.12256del (p.Glu4086SerfsTer?)
c.12238del (p.Glu4080SerfsTer?)
c.12184del (p.Glu4062SerfsTer?)
c.12103del (p.Glu4035SerfsTer?)
c.12046del (p.Glu4016SerfsTer?)
c.10132del (p.Glu3378SerfsTer?)
c.9310del (p.Glu3104SerfsTer?)
n.12150del
c.12352del (p.Glu4118SerfsTer?)
c.12280del (p.Glu4094SerfsTer?)
c.12142del (p.Glu4048SerfsTer?)
c.10228del (p.Glu3410SerfsTer?)
 ClinVar dbSNP
16g.2090497C>ACA394326175PKD1c.12232G>T (p.Glu4078Ter)
c.12229G>T (p.Glu4077Ter)
n.260G>T
c.9187G>T (p.Glu3063Ter)
c.12310G>T (p.Glu4104Ter)
c.12307G>T (p.Glu4103Ter)
c.12292G>T (p.Glu4098Ter)
c.12286G>T (p.Glu4096Ter)
c.12283G>T (p.Glu4095Ter)
c.12256G>T (p.Glu4086Ter)
c.12238G>T (p.Glu4080Ter)
c.12184G>T (p.Glu4062Ter)
c.12103G>T (p.Glu4035Ter)
c.12046G>T (p.Glu4016Ter)
c.10132G>T (p.Glu3378Ter)
c.9310G>T (p.Glu3104Ter)
n.12150G>T
c.12352G>T (p.Glu4118Ter)
c.12280G>T (p.Glu4094Ter)
c.12142G>T (p.Glu4048Ter)
c.10228G>T (p.Glu3410Ter)
16g.2090497C>GCA394326177PKD1c.12232G>C (p.Glu4078Gln)
c.12229G>C (p.Glu4077Gln)
n.260G>C
c.9187G>C (p.Glu3063Gln)
c.12310G>C (p.Glu4104Gln)
c.12307G>C (p.Glu4103Gln)
c.12292G>C (p.Glu4098Gln)
c.12286G>C (p.Glu4096Gln)
c.12283G>C (p.Glu4095Gln)
c.12256G>C (p.Glu4086Gln)
c.12238G>C (p.Glu4080Gln)
c.12184G>C (p.Glu4062Gln)
c.12103G>C (p.Glu4035Gln)
c.12046G>C (p.Glu4016Gln)
c.10132G>C (p.Glu3378Gln)
c.9310G>C (p.Glu3104Gln)
n.12150G>C
c.12352G>C (p.Glu4118Gln)
c.12280G>C (p.Glu4094Gln)
c.12142G>C (p.Glu4048Gln)
c.10228G>C (p.Glu3410Gln)
16g.2090497C>TCA394326181PKD1c.12232G>A (p.Glu4078Lys)
c.12229G>A (p.Glu4077Lys)
n.260G>A
c.9187G>A (p.Glu3063Lys)
c.12310G>A (p.Glu4104Lys)
c.12307G>A (p.Glu4103Lys)
c.12292G>A (p.Glu4098Lys)
c.12286G>A (p.Glu4096Lys)
c.12283G>A (p.Glu4095Lys)
c.12256G>A (p.Glu4086Lys)
c.12238G>A (p.Glu4080Lys)
c.12184G>A (p.Glu4062Lys)
c.12103G>A (p.Glu4035Lys)
c.12046G>A (p.Glu4016Lys)
c.10132G>A (p.Glu3378Lys)
c.9310G>A (p.Glu3104Lys)
n.12150G>A
c.12352G>A (p.Glu4118Lys)
c.12280G>A (p.Glu4094Lys)
c.12142G>A (p.Glu4048Lys)
c.10228G>A (p.Glu3410Lys)
 gnomAD v4
16g.2090498G>ACA276764159PKD1c.12231C>T (p.Ala4077=)
c.12228C>T (p.Ala4076=)
n.259C>T
c.9186C>T (p.Ala3062=)
c.12309C>T (p.Ala4103=)
c.12306C>T (p.Ala4102=)
c.12291C>T (p.Ala4097=)
c.12285C>T (p.Ala4095=)
c.12282C>T (p.Ala4094=)
c.12255C>T (p.Ala4085=)
c.12237C>T (p.Ala4079=)
c.12183C>T (p.Ala4061=)
c.12102C>T (p.Ala4034=)
c.12045C>T (p.Ala4015=)
c.10131C>T (p.Ala3377=)
c.9309C>T (p.Ala3103=)
n.12149C>T
c.12351C>T (p.Ala4117=)
c.12279C>T (p.Ala4093=)
c.12141C>T (p.Ala4047=)
c.10227C>T (p.Ala3409=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2090498G>CCA7828713PKD1c.12231C>G (p.Ala4077=)
c.12228C>G (p.Ala4076=)
n.259C>G
c.9186C>G (p.Ala3062=)
c.12309C>G (p.Ala4103=)
c.12306C>G (p.Ala4102=)
c.12291C>G (p.Ala4097=)
c.12285C>G (p.Ala4095=)
c.12282C>G (p.Ala4094=)
c.12255C>G (p.Ala4085=)
c.12237C>G (p.Ala4079=)
c.12183C>G (p.Ala4061=)
c.12102C>G (p.Ala4034=)
c.12045C>G (p.Ala4015=)
c.10131C>G (p.Ala3377=)
c.9309C>G (p.Ala3103=)
n.12149C>G
c.12351C>G (p.Ala4117=)
c.12279C>G (p.Ala4093=)
c.12141C>G (p.Ala4047=)
c.10227C>G (p.Ala3409=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090498G=CA2202041909PKD1c.12231C= (p.Ala4077=)
c.12228C= (p.Ala4076=)
n.259C=
c.9186C= (p.Ala3062=)
c.12309C= (p.Ala4103=)
c.12306C= (p.Ala4102=)
c.12291C= (p.Ala4097=)
c.12285C= (p.Ala4095=)
c.12282C= (p.Ala4094=)
c.12255C= (p.Ala4085=)
c.12237C= (p.Ala4079=)
c.12183C= (p.Ala4061=)
c.12102C= (p.Ala4034=)
c.12045C= (p.Ala4015=)
c.10131C= (p.Ala3377=)
c.9309C= (p.Ala3103=)
n.12149C=
c.12351C= (p.Ala4117=)
c.12279C= (p.Ala4093=)
c.12141C= (p.Ala4047=)
c.10227C= (p.Ala3409=)
16g.2090498G>TCA493044226PKD1c.12231C>A (p.Ala4077=)
c.12228C>A (p.Ala4076=)
n.259C>A
c.9186C>A (p.Ala3062=)
c.12309C>A (p.Ala4103=)
c.12306C>A (p.Ala4102=)
c.12291C>A (p.Ala4097=)
c.12285C>A (p.Ala4095=)
c.12282C>A (p.Ala4094=)
c.12255C>A (p.Ala4085=)
c.12237C>A (p.Ala4079=)
c.12183C>A (p.Ala4061=)
c.12102C>A (p.Ala4034=)
c.12045C>A (p.Ala4015=)
c.10131C>A (p.Ala3377=)
c.9309C>A (p.Ala3103=)
n.12149C>A
c.12351C>A (p.Ala4117=)
c.12279C>A (p.Ala4093=)
c.12141C>A (p.Ala4047=)
c.10227C>A (p.Ala3409=)
16g.2090499G>ACA7828714PKD1c.12230C>T (p.Ala4077Val)
c.12227C>T (p.Ala4076Val)
n.258C>T
c.9185C>T (p.Ala3062Val)
c.12308C>T (p.Ala4103Val)
c.12305C>T (p.Ala4102Val)
c.12290C>T (p.Ala4097Val)
c.12284C>T (p.Ala4095Val)
c.12281C>T (p.Ala4094Val)
c.12254C>T (p.Ala4085Val)
c.12236C>T (p.Ala4079Val)
c.12182C>T (p.Ala4061Val)
c.12101C>T (p.Ala4034Val)
c.12044C>T (p.Ala4015Val)
c.10130C>T (p.Ala3377Val)
c.9308C>T (p.Ala3103Val)
n.12148C>T
c.12350C>T (p.Ala4117Val)
c.12278C>T (p.Ala4093Val)
c.12140C>T (p.Ala4047Val)
c.10226C>T (p.Ala3409Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2090499G>CCA394326187PKD1c.12230C>G (p.Ala4077Gly)
c.12227C>G (p.Ala4076Gly)
n.258C>G
c.9185C>G (p.Ala3062Gly)
c.12308C>G (p.Ala4103Gly)
c.12305C>G (p.Ala4102Gly)
c.12290C>G (p.Ala4097Gly)
c.12284C>G (p.Ala4095Gly)
c.12281C>G (p.Ala4094Gly)
c.12254C>G (p.Ala4085Gly)
c.12236C>G (p.Ala4079Gly)
c.12182C>G (p.Ala4061Gly)
c.12101C>G (p.Ala4034Gly)
c.12044C>G (p.Ala4015Gly)
c.10130C>G (p.Ala3377Gly)
c.9308C>G (p.Ala3103Gly)
n.12148C>G
c.12350C>G (p.Ala4117Gly)
c.12278C>G (p.Ala4093Gly)
c.12140C>G (p.Ala4047Gly)
c.10226C>G (p.Ala3409Gly)
16g.2090499G=CA2202041913PKD1c.12230C= (p.Ala4077=)
c.12227C= (p.Ala4076=)
n.258C=
c.9185C= (p.Ala3062=)
c.12308C= (p.Ala4103=)
c.12305C= (p.Ala4102=)
c.12290C= (p.Ala4097=)
c.12284C= (p.Ala4095=)
c.12281C= (p.Ala4094=)
c.12254C= (p.Ala4085=)
c.12236C= (p.Ala4079=)
c.12182C= (p.Ala4061=)
c.12101C= (p.Ala4034=)
c.12044C= (p.Ala4015=)
c.10130C= (p.Ala3377=)
c.9308C= (p.Ala3103=)
n.12148C=
c.12350C= (p.Ala4117=)
c.12278C= (p.Ala4093=)
c.12140C= (p.Ala4047=)
c.10226C= (p.Ala3409=)
16g.2090499G>TCA394326188PKD1c.12230C>A (p.Ala4077Asp)
c.12227C>A (p.Ala4076Asp)
n.258C>A
c.9185C>A (p.Ala3062Asp)
c.12308C>A (p.Ala4103Asp)
c.12305C>A (p.Ala4102Asp)
c.12290C>A (p.Ala4097Asp)
c.12284C>A (p.Ala4095Asp)
c.12281C>A (p.Ala4094Asp)
c.12254C>A (p.Ala4085Asp)
c.12236C>A (p.Ala4079Asp)
c.12182C>A (p.Ala4061Asp)
c.12101C>A (p.Ala4034Asp)
c.12044C>A (p.Ala4015Asp)
c.10130C>A (p.Ala3377Asp)
c.9308C>A (p.Ala3103Asp)
n.12148C>A
c.12350C>A (p.Ala4117Asp)
c.12278C>A (p.Ala4093Asp)
c.12140C>A (p.Ala4047Asp)
c.10226C>A (p.Ala3409Asp)
 gnomAD v4
16g.2090500C>ACA394326191PKD1c.12229G>T (p.Ala4077Ser)
c.12226G>T (p.Ala4076Ser)
n.257G>T
c.9184G>T (p.Ala3062Ser)
c.12307G>T (p.Ala4103Ser)
c.12304G>T (p.Ala4102Ser)
c.12289G>T (p.Ala4097Ser)
c.12283G>T (p.Ala4095Ser)
c.12280G>T (p.Ala4094Ser)
c.12253G>T (p.Ala4085Ser)
c.12235G>T (p.Ala4079Ser)
c.12181G>T (p.Ala4061Ser)
c.12100G>T (p.Ala4034Ser)
c.12043G>T (p.Ala4015Ser)
c.10129G>T (p.Ala3377Ser)
c.9307G>T (p.Ala3103Ser)
n.12147G>T
c.12349G>T (p.Ala4117Ser)
c.12277G>T (p.Ala4093Ser)
c.12139G>T (p.Ala4047Ser)
c.10225G>T (p.Ala3409Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.2090500C=CA2202041916PKD1c.12229G= (p.Ala4077=)
c.12226G= (p.Ala4076=)
n.257G=
c.9184G= (p.Ala3062=)
c.12307G= (p.Ala4103=)
c.12304G= (p.Ala4102=)
c.12289G= (p.Ala4097=)
c.12283G= (p.Ala4095=)
c.12280G= (p.Ala4094=)
c.12253G= (p.Ala4085=)
c.12235G= (p.Ala4079=)
c.12181G= (p.Ala4061=)
c.12100G= (p.Ala4034=)
c.12043G= (p.Ala4015=)
c.10129G= (p.Ala3377=)
c.9307G= (p.Ala3103=)
n.12147G=
c.12349G= (p.Ala4117=)
c.12277G= (p.Ala4093=)
c.12139G= (p.Ala4047=)
c.10225G= (p.Ala3409=)
16g.2090500C>GCA394326194PKD1c.12229G>C (p.Ala4077Pro)
c.12226G>C (p.Ala4076Pro)
n.257G>C
c.9184G>C (p.Ala3062Pro)
c.12307G>C (p.Ala4103Pro)
c.12304G>C (p.Ala4102Pro)
c.12289G>C (p.Ala4097Pro)
c.12283G>C (p.Ala4095Pro)
c.12280G>C (p.Ala4094Pro)
c.12253G>C (p.Ala4085Pro)
c.12235G>C (p.Ala4079Pro)
c.12181G>C (p.Ala4061Pro)
c.12100G>C (p.Ala4034Pro)
c.12043G>C (p.Ala4015Pro)
c.10129G>C (p.Ala3377Pro)
c.9307G>C (p.Ala3103Pro)
n.12147G>C
c.12349G>C (p.Ala4117Pro)
c.12277G>C (p.Ala4093Pro)
c.12139G>C (p.Ala4047Pro)
c.10225G>C (p.Ala3409Pro)
 dbSNP gnomAD v3 gnomAD v4
16g.2090500C>TCA394326198PKD1c.12229G>A (p.Ala4077Thr)
c.12226G>A (p.Ala4076Thr)
n.257G>A
c.9184G>A (p.Ala3062Thr)
c.12307G>A (p.Ala4103Thr)
c.12304G>A (p.Ala4102Thr)
c.12289G>A (p.Ala4097Thr)
c.12283G>A (p.Ala4095Thr)
c.12280G>A (p.Ala4094Thr)
c.12253G>A (p.Ala4085Thr)
c.12235G>A (p.Ala4079Thr)
c.12181G>A (p.Ala4061Thr)
c.12100G>A (p.Ala4034Thr)
c.12043G>A (p.Ala4015Thr)
c.10129G>A (p.Ala3377Thr)
c.9307G>A (p.Ala3103Thr)
n.12147G>A
c.12349G>A (p.Ala4117Thr)
c.12277G>A (p.Ala4093Thr)
c.12139G>A (p.Ala4047Thr)
c.10225G>A (p.Ala3409Thr)
 dbSNP gnomAD v2 gnomAD v4
16g.2090501A>CCA493044230PKD1c.12228T>G (p.Pro4076=)
c.12225T>G (p.Pro4075=)
n.256T>G
c.9183T>G (p.Pro3061=)
c.12306T>G (p.Pro4102=)
c.12303T>G (p.Pro4101=)
c.12288T>G (p.Pro4096=)
c.12282T>G (p.Pro4094=)
c.12279T>G (p.Pro4093=)
c.12252T>G (p.Pro4084=)
c.12234T>G (p.Pro4078=)
c.12180T>G (p.Pro4060=)
c.12099T>G (p.Pro4033=)
c.12042T>G (p.Pro4014=)
c.10128T>G (p.Pro3376=)
c.9306T>G (p.Pro3102=)
n.12146T>G
c.12348T>G (p.Pro4116=)
c.12276T>G (p.Pro4092=)
c.12138T>G (p.Pro4046=)
c.10224T>G (p.Pro3408=)
16g.2090501A>GCA493044229PKD1c.12228T>C (p.Pro4076=)
c.12225T>C (p.Pro4075=)
n.256T>C
c.9183T>C (p.Pro3061=)
c.12306T>C (p.Pro4102=)
c.12303T>C (p.Pro4101=)
c.12288T>C (p.Pro4096=)
c.12282T>C (p.Pro4094=)
c.12279T>C (p.Pro4093=)
c.12252T>C (p.Pro4084=)
c.12234T>C (p.Pro4078=)
c.12180T>C (p.Pro4060=)
c.12099T>C (p.Pro4033=)
c.12042T>C (p.Pro4014=)
c.10128T>C (p.Pro3376=)
c.9306T>C (p.Pro3102=)
n.12146T>C
c.12348T>C (p.Pro4116=)
c.12276T>C (p.Pro4092=)
c.12138T>C (p.Pro4046=)
c.10224T>C (p.Pro3408=)
16g.2090501A>TCA493044228PKD1c.12228T>A (p.Pro4076=)
c.12225T>A (p.Pro4075=)
n.256T>A
c.9183T>A (p.Pro3061=)
c.12306T>A (p.Pro4102=)
c.12303T>A (p.Pro4101=)
c.12288T>A (p.Pro4096=)
c.12282T>A (p.Pro4094=)
c.12279T>A (p.Pro4093=)
c.12252T>A (p.Pro4084=)
c.12234T>A (p.Pro4078=)
c.12180T>A (p.Pro4060=)
c.12099T>A (p.Pro4033=)
c.12042T>A (p.Pro4014=)
c.10128T>A (p.Pro3376=)
c.9306T>A (p.Pro3102=)
n.12146T>A
c.12348T>A (p.Pro4116=)
c.12276T>A (p.Pro4092=)
c.12138T>A (p.Pro4046=)
c.10224T>A (p.Pro3408=)
16g.2090502G>ACA276764163PKD1c.12227C>T (p.Pro4076Leu)
c.12224C>T (p.Pro4075Leu)
n.255C>T
c.9182C>T (p.Pro3061Leu)
c.12305C>T (p.Pro4102Leu)
c.12302C>T (p.Pro4101Leu)
c.12287C>T (p.Pro4096Leu)
c.12281C>T (p.Pro4094Leu)
c.12278C>T (p.Pro4093Leu)
c.12251C>T (p.Pro4084Leu)
c.12233C>T (p.Pro4078Leu)
c.12179C>T (p.Pro4060Leu)
c.12098C>T (p.Pro4033Leu)
c.12041C>T (p.Pro4014Leu)
c.10127C>T (p.Pro3376Leu)
c.9305C>T (p.Pro3102Leu)
n.12145C>T
c.12347C>T (p.Pro4116Leu)
c.12275C>T (p.Pro4092Leu)
c.12137C>T (p.Pro4046Leu)
c.10223C>T (p.Pro3408Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2090502G>CCA394326200PKD1c.12227C>G (p.Pro4076Arg)
c.12224C>G (p.Pro4075Arg)
n.255C>G
c.9182C>G (p.Pro3061Arg)
c.12305C>G (p.Pro4102Arg)
c.12302C>G (p.Pro4101Arg)
c.12287C>G (p.Pro4096Arg)
c.12281C>G (p.Pro4094Arg)
c.12278C>G (p.Pro4093Arg)
c.12251C>G (p.Pro4084Arg)
c.12233C>G (p.Pro4078Arg)
c.12179C>G (p.Pro4060Arg)
c.12098C>G (p.Pro4033Arg)
c.12041C>G (p.Pro4014Arg)
c.10127C>G (p.Pro3376Arg)
c.9305C>G (p.Pro3102Arg)
n.12145C>G
c.12347C>G (p.Pro4116Arg)
c.12275C>G (p.Pro4092Arg)
c.12137C>G (p.Pro4046Arg)
c.10223C>G (p.Pro3408Arg)
 dbSNP gnomAD v2 gnomAD v4
16g.2090502G=CA2202041919PKD1c.12227C= (p.Pro4076=)
c.12224C= (p.Pro4075=)
n.255C=
c.9182C= (p.Pro3061=)
c.12305C= (p.Pro4102=)
c.12302C= (p.Pro4101=)
c.12287C= (p.Pro4096=)
c.12281C= (p.Pro4094=)
c.12278C= (p.Pro4093=)
c.12251C= (p.Pro4084=)
c.12233C= (p.Pro4078=)
c.12179C= (p.Pro4060=)
c.12098C= (p.Pro4033=)
c.12041C= (p.Pro4014=)
c.10127C= (p.Pro3376=)
c.9305C= (p.Pro3102=)
n.12145C=
c.12347C= (p.Pro4116=)
c.12275C= (p.Pro4092=)
c.12137C= (p.Pro4046=)
c.10223C= (p.Pro3408=)
16g.2090502G>TCA394326199PKD1c.12227C>A (p.Pro4076His)
c.12224C>A (p.Pro4075His)
n.255C>A
c.9182C>A (p.Pro3061His)
c.12305C>A (p.Pro4102His)
c.12302C>A (p.Pro4101His)
c.12287C>A (p.Pro4096His)
c.12281C>A (p.Pro4094His)
c.12278C>A (p.Pro4093His)
c.12251C>A (p.Pro4084His)
c.12233C>A (p.Pro4078His)
c.12179C>A (p.Pro4060His)
c.12098C>A (p.Pro4033His)
c.12041C>A (p.Pro4014His)
c.10127C>A (p.Pro3376His)
c.9305C>A (p.Pro3102His)
n.12145C>A
c.12347C>A (p.Pro4116His)
c.12275C>A (p.Pro4092His)
c.12137C>A (p.Pro4046His)
c.10223C>A (p.Pro3408His)
16g.2090502_2090521dupCA2695221551PKD1c.12208_12227dup (p.Ala4077GlyfsTer?)
c.12205_12224dup (p.Ala4076GlyfsTer?)
n.236_255dup
c.9163_9182dup (p.Ala3062GlyfsTer?)
c.12286_12305dup (p.Ala4103GlyfsTer?)
c.12283_12302dup (p.Ala4102GlyfsTer?)
c.12268_12287dup (p.Ala4097GlyfsTer?)
c.12262_12281dup (p.Ala4095GlyfsTer?)
c.12259_12278dup (p.Ala4094GlyfsTer?)
c.12232_12251dup (p.Ala4085GlyfsTer?)
c.12214_12233dup (p.Ala4079GlyfsTer?)
c.12160_12179dup (p.Ala4061GlyfsTer?)
c.12079_12098dup (p.Ala4034GlyfsTer?)
c.12022_12041dup (p.Ala4015GlyfsTer?)
c.10108_10127dup (p.Ala3377GlyfsTer?)
c.9286_9305dup (p.Ala3103GlyfsTer?)
n.12126_12145dup
c.12328_12347dup (p.Ala4117GlyfsTer?)
c.12256_12275dup (p.Ala4093GlyfsTer?)
c.12118_12137dup (p.Ala4047GlyfsTer?)
c.10204_10223dup (p.Ala3409GlyfsTer?)
16g.2090503G>ACA394326205PKD1c.12226C>T (p.Pro4076Ser)
c.12223C>T (p.Pro4075Ser)
n.254C>T
c.9181C>T (p.Pro3061Ser)
c.12304C>T (p.Pro4102Ser)
c.12301C>T (p.Pro4101Ser)
c.12286C>T (p.Pro4096Ser)
c.12280C>T (p.Pro4094Ser)
c.12277C>T (p.Pro4093Ser)
c.12250C>T (p.Pro4084Ser)
c.12232C>T (p.Pro4078Ser)
c.12178C>T (p.Pro4060Ser)
c.12097C>T (p.Pro4033Ser)
c.12040C>T (p.Pro4014Ser)
c.10126C>T (p.Pro3376Ser)
c.9304C>T (p.Pro3102Ser)
n.12144C>T
c.12346C>T (p.Pro4116Ser)
c.12274C>T (p.Pro4092Ser)
c.12136C>T (p.Pro4046Ser)
c.10222C>T (p.Pro3408Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.2090503G>CCA276764168PKD1c.12226C>G (p.Pro4076Ala)
c.12223C>G (p.Pro4075Ala)
n.254C>G
c.9181C>G (p.Pro3061Ala)
c.12304C>G (p.Pro4102Ala)
c.12301C>G (p.Pro4101Ala)
c.12286C>G (p.Pro4096Ala)
c.12280C>G (p.Pro4094Ala)
c.12277C>G (p.Pro4093Ala)
c.12250C>G (p.Pro4084Ala)
c.12232C>G (p.Pro4078Ala)
c.12178C>G (p.Pro4060Ala)
c.12097C>G (p.Pro4033Ala)
c.12040C>G (p.Pro4014Ala)
c.10126C>G (p.Pro3376Ala)
c.9304C>G (p.Pro3102Ala)
n.12144C>G
c.12346C>G (p.Pro4116Ala)
c.12274C>G (p.Pro4092Ala)
c.12136C>G (p.Pro4046Ala)
c.10222C>G (p.Pro3408Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.2090503G=CA2202041922PKD1c.12226C= (p.Pro4076=)
c.12223C= (p.Pro4075=)
n.254C=
c.9181C= (p.Pro3061=)
c.12304C= (p.Pro4102=)
c.12301C= (p.Pro4101=)
c.12286C= (p.Pro4096=)
c.12280C= (p.Pro4094=)
c.12277C= (p.Pro4093=)
c.12250C= (p.Pro4084=)
c.12232C= (p.Pro4078=)
c.12178C= (p.Pro4060=)
c.12097C= (p.Pro4033=)
c.12040C= (p.Pro4014=)
c.10126C= (p.Pro3376=)
c.9304C= (p.Pro3102=)
n.12144C=
c.12346C= (p.Pro4116=)
c.12274C= (p.Pro4092=)
c.12136C= (p.Pro4046=)
c.10222C= (p.Pro3408=)
16g.2090503G>TCA7828715PKD1c.12226C>A (p.Pro4076Thr)
c.12223C>A (p.Pro4075Thr)
n.254C>A
c.9181C>A (p.Pro3061Thr)
c.12304C>A (p.Pro4102Thr)
c.12301C>A (p.Pro4101Thr)
c.12286C>A (p.Pro4096Thr)
c.12280C>A (p.Pro4094Thr)
c.12277C>A (p.Pro4093Thr)
c.12250C>A (p.Pro4084Thr)
c.12232C>A (p.Pro4078Thr)
c.12178C>A (p.Pro4060Thr)
c.12097C>A (p.Pro4033Thr)
c.12040C>A (p.Pro4014Thr)
c.10126C>A (p.Pro3376Thr)
c.9304C>A (p.Pro3102Thr)
n.12144C>A
c.12346C>A (p.Pro4116Thr)
c.12274C>A (p.Pro4092Thr)
c.12136C>A (p.Pro4046Thr)
c.10222C>A (p.Pro3408Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2090504A>CCA394326224PKD1c.12225T>G (p.Cys4075Trp)
c.12222T>G (p.Cys4074Trp)
n.253T>G
c.9180T>G (p.Cys3060Trp)
c.12303T>G (p.Cys4101Trp)
c.12300T>G (p.Cys4100Trp)
c.12285T>G (p.Cys4095Trp)
c.12279T>G (p.Cys4093Trp)
c.12276T>G (p.Cys4092Trp)
c.12249T>G (p.Cys4083Trp)
c.12231T>G (p.Cys4077Trp)
c.12177T>G (p.Cys4059Trp)
c.12096T>G (p.Cys4032Trp)
c.12039T>G (p.Cys4013Trp)
c.10125T>G (p.Cys3375Trp)
c.9303T>G (p.Cys3101Trp)
n.12143T>G
c.12345T>G (p.Cys4115Trp)
c.12273T>G (p.Cys4091Trp)
c.12135T>G (p.Cys4045Trp)
c.10221T>G (p.Cys3407Trp)
16g.2090504A>GCA493044233PKD1c.12225T>C (p.Cys4075=)
c.12222T>C (p.Cys4074=)
n.253T>C
c.9180T>C (p.Cys3060=)
c.12303T>C (p.Cys4101=)
c.12300T>C (p.Cys4100=)
c.12285T>C (p.Cys4095=)
c.12279T>C (p.Cys4093=)
c.12276T>C (p.Cys4092=)
c.12249T>C (p.Cys4083=)
c.12231T>C (p.Cys4077=)
c.12177T>C (p.Cys4059=)
c.12096T>C (p.Cys4032=)
c.12039T>C (p.Cys4013=)
c.10125T>C (p.Cys3375=)
c.9303T>C (p.Cys3101=)
n.12143T>C
c.12345T>C (p.Cys4115=)
c.12273T>C (p.Cys4091=)
c.12135T>C (p.Cys4045=)
c.10221T>C (p.Cys3407=)
 gnomAD v4
16g.2090504A>TCA394326228PKD1c.12225T>A (p.Cys4075Ter)
c.12222T>A (p.Cys4074Ter)
n.253T>A
c.9180T>A (p.Cys3060Ter)
c.12303T>A (p.Cys4101Ter)
c.12300T>A (p.Cys4100Ter)
c.12285T>A (p.Cys4095Ter)
c.12279T>A (p.Cys4093Ter)
c.12276T>A (p.Cys4092Ter)
c.12249T>A (p.Cys4083Ter)
c.12231T>A (p.Cys4077Ter)
c.12177T>A (p.Cys4059Ter)
c.12096T>A (p.Cys4032Ter)
c.12039T>A (p.Cys4013Ter)
c.10125T>A (p.Cys3375Ter)
c.9303T>A (p.Cys3101Ter)
n.12143T>A
c.12345T>A (p.Cys4115Ter)
c.12273T>A (p.Cys4091Ter)
c.12135T>A (p.Cys4045Ter)
c.10221T>A (p.Cys3407Ter)
16g.2090507_2090508dupCA2631135487PKD1c.12224_12225dup (p.Pro4076ValfsTer?)
c.12221_12222dup (p.Pro4075ValfsTer?)
n.252_253dup
c.9179_9180dup (p.Pro3061ValfsTer?)
c.12302_12303dup (p.Pro4102ValfsTer?)
c.12299_12300dup (p.Pro4101ValfsTer?)
c.12284_12285dup (p.Pro4096ValfsTer?)
c.12278_12279dup (p.Pro4094ValfsTer?)
c.12275_12276dup (p.Pro4093ValfsTer?)
c.12248_12249dup (p.Pro4084ValfsTer?)
c.12230_12231dup (p.Pro4078ValfsTer?)
c.12176_12177dup (p.Pro4060ValfsTer?)
c.12095_12096dup (p.Pro4033ValfsTer?)
c.12038_12039dup (p.Pro4014ValfsTer?)
c.10124_10125dup (p.Pro3376ValfsTer?)
c.9302_9303dup (p.Pro3102ValfsTer?)
n.12142_12143dup
c.12344_12345dup (p.Pro4116ValfsTer?)
c.12272_12273dup (p.Pro4092ValfsTer?)
c.12134_12135dup (p.Pro4046ValfsTer?)
c.10220_10221dup (p.Pro3408ValfsTer?)
 gnomAD v4
16g.2090507_2090508delCA2695221552PKD1c.12224_12225del (p.Cys4075SerfsTer?)
c.12221_12222del (p.Cys4074SerfsTer?)
n.252_253del
c.9179_9180del (p.Cys3060SerfsTer?)
c.12302_12303del (p.Cys4101SerfsTer?)
c.12299_12300del (p.Cys4100SerfsTer?)
c.12284_12285del (p.Cys4095SerfsTer?)
c.12278_12279del (p.Cys4093SerfsTer?)
c.12275_12276del (p.Cys4092SerfsTer?)
c.12248_12249del (p.Cys4083SerfsTer?)
c.12230_12231del (p.Cys4077SerfsTer?)
c.12176_12177del (p.Cys4059SerfsTer?)
c.12095_12096del (p.Cys4032SerfsTer?)
c.12038_12039del (p.Cys4013SerfsTer?)
c.10124_10125del (p.Cys3375SerfsTer?)
c.9302_9303del (p.Cys3101SerfsTer?)
n.12142_12143del
c.12344_12345del (p.Cys4115SerfsTer?)
c.12272_12273del (p.Cys4091SerfsTer?)
c.12134_12135del (p.Cys4045SerfsTer?)
c.10220_10221del (p.Cys3407SerfsTer?)
16g.2090505C>ACA394326230PKD1c.12224G>T (p.Cys4075Phe)
c.12221G>T (p.Cys4074Phe)
n.252G>T
c.9179G>T (p.Cys3060Phe)
c.12302G>T (p.Cys4101Phe)
c.12299G>T (p.Cys4100Phe)
c.12284G>T (p.Cys4095Phe)
c.12278G>T (p.Cys4093Phe)
c.12275G>T (p.Cys4092Phe)
c.12248G>T (p.Cys4083Phe)
c.12230G>T (p.Cys4077Phe)
c.12176G>T (p.Cys4059Phe)
c.12095G>T (p.Cys4032Phe)
c.12038G>T (p.Cys4013Phe)
c.10124G>T (p.Cys3375Phe)
c.9302G>T (p.Cys3101Phe)
n.12142G>T
c.12344G>T (p.Cys4115Phe)
c.12272G>T (p.Cys4091Phe)
c.12134G>T (p.Cys4045Phe)
c.10220G>T (p.Cys3407Phe)
16g.2090505C>GCA394326232PKD1c.12224G>C (p.Cys4075Ser)
c.12221G>C (p.Cys4074Ser)
n.252G>C
c.9179G>C (p.Cys3060Ser)
c.12302G>C (p.Cys4101Ser)
c.12299G>C (p.Cys4100Ser)
c.12284G>C (p.Cys4095Ser)
c.12278G>C (p.Cys4093Ser)
c.12275G>C (p.Cys4092Ser)
c.12248G>C (p.Cys4083Ser)
c.12230G>C (p.Cys4077Ser)
c.12176G>C (p.Cys4059Ser)
c.12095G>C (p.Cys4032Ser)
c.12038G>C (p.Cys4013Ser)
c.10124G>C (p.Cys3375Ser)
c.9302G>C (p.Cys3101Ser)
n.12142G>C
c.12344G>C (p.Cys4115Ser)
c.12272G>C (p.Cys4091Ser)
c.12134G>C (p.Cys4045Ser)
c.10220G>C (p.Cys3407Ser)
16g.2090505C>TCA394326235PKD1c.12224G>A (p.Cys4075Tyr)
c.12221G>A (p.Cys4074Tyr)
n.252G>A
c.9179G>A (p.Cys3060Tyr)
c.12302G>A (p.Cys4101Tyr)
c.12299G>A (p.Cys4100Tyr)
c.12284G>A (p.Cys4095Tyr)
c.12278G>A (p.Cys4093Tyr)
c.12275G>A (p.Cys4092Tyr)
c.12248G>A (p.Cys4083Tyr)
c.12230G>A (p.Cys4077Tyr)
c.12176G>A (p.Cys4059Tyr)
c.12095G>A (p.Cys4032Tyr)
c.12038G>A (p.Cys4013Tyr)
c.10124G>A (p.Cys3375Tyr)
c.9302G>A (p.Cys3101Tyr)
n.12142G>A
c.12344G>A (p.Cys4115Tyr)
c.12272G>A (p.Cys4091Tyr)
c.12134G>A (p.Cys4045Tyr)
c.10220G>A (p.Cys3407Tyr)
16g.2090510_2090536delCA2631135509PKD1c.12198_12224del (p.Pro4067_Cys4075del)
c.12195_12221del (p.Pro4066_Cys4074del)
n.226_252del
c.9153_9179del (p.Pro3052_Cys3060del)
c.12276_12302del (p.Pro4093_Cys4101del)
c.12273_12299del (p.Pro4092_Cys4100del)
c.12258_12284del (p.Pro4087_Cys4095del)
c.12252_12278del (p.Pro4085_Cys4093del)
c.12249_12275del (p.Pro4084_Cys4092del)
c.12222_12248del (p.Pro4075_Cys4083del)
c.12204_12230del (p.Pro4069_Cys4077del)
c.12150_12176del (p.Pro4051_Cys4059del)
c.12069_12095del (p.Pro4024_Cys4032del)
c.12012_12038del (p.Pro4005_Cys4013del)
c.10098_10124del (p.Pro3367_Cys3375del)
c.9276_9302del (p.Pro3093_Cys3101del)
n.12116_12142del
c.12318_12344del (p.Pro4107_Cys4115del)
c.12246_12272del (p.Pro4083_Cys4091del)
c.12108_12134del (p.Pro4037_Cys4045del)
c.10194_10220del (p.Pro3399_Cys3407del)
 gnomAD v4
16g.2090506A>CCA394326237PKD1c.12223T>G (p.Cys4075Gly)
c.12220T>G (p.Cys4074Gly)
n.251T>G
c.9178T>G (p.Cys3060Gly)
c.12301T>G (p.Cys4101Gly)
c.12298T>G (p.Cys4100Gly)
c.12283T>G (p.Cys4095Gly)
c.12277T>G (p.Cys4093Gly)
c.12274T>G (p.Cys4092Gly)
c.12247T>G (p.Cys4083Gly)
c.12229T>G (p.Cys4077Gly)
c.12175T>G (p.Cys4059Gly)
c.12094T>G (p.Cys4032Gly)
c.12037T>G (p.Cys4013Gly)
c.10123T>G (p.Cys3375Gly)
c.9301T>G (p.Cys3101Gly)
n.12141T>G
c.12343T>G (p.Cys4115Gly)
c.12271T>G (p.Cys4091Gly)
c.12133T>G (p.Cys4045Gly)
c.10219T>G (p.Cys3407Gly)
 gnomAD v4
16g.2090506A>GCA394326240PKD1c.12223T>C (p.Cys4075Arg)
c.12220T>C (p.Cys4074Arg)
n.251T>C
c.9178T>C (p.Cys3060Arg)
c.12301T>C (p.Cys4101Arg)
c.12298T>C (p.Cys4100Arg)
c.12283T>C (p.Cys4095Arg)
c.12277T>C (p.Cys4093Arg)
c.12274T>C (p.Cys4092Arg)
c.12247T>C (p.Cys4083Arg)
c.12229T>C (p.Cys4077Arg)
c.12175T>C (p.Cys4059Arg)
c.12094T>C (p.Cys4032Arg)
c.12037T>C (p.Cys4013Arg)
c.10123T>C (p.Cys3375Arg)
c.9301T>C (p.Cys3101Arg)
n.12141T>C
c.12343T>C (p.Cys4115Arg)
c.12271T>C (p.Cys4091Arg)
c.12133T>C (p.Cys4045Arg)
c.10219T>C (p.Cys3407Arg)
16g.2090506A>TCA394326249PKD1c.12223T>A (p.Cys4075Ser)
c.12220T>A (p.Cys4074Ser)
n.251T>A
c.9178T>A (p.Cys3060Ser)
c.12301T>A (p.Cys4101Ser)
c.12298T>A (p.Cys4100Ser)
c.12283T>A (p.Cys4095Ser)
c.12277T>A (p.Cys4093Ser)
c.12274T>A (p.Cys4092Ser)
c.12247T>A (p.Cys4083Ser)
c.12229T>A (p.Cys4077Ser)
c.12175T>A (p.Cys4059Ser)
c.12094T>A (p.Cys4032Ser)
c.12037T>A (p.Cys4013Ser)
c.10123T>A (p.Cys3375Ser)
c.9301T>A (p.Cys3101Ser)
n.12141T>A
c.12343T>A (p.Cys4115Ser)
c.12271T>A (p.Cys4091Ser)
c.12133T>A (p.Cys4045Ser)
c.10219T>A (p.Cys3407Ser)
16g.2090507C>ACA493044234PKD1c.12222G>T (p.Leu4074=)
c.12219G>T (p.Leu4073=)
n.250G>T
c.9177G>T (p.Leu3059=)
c.12300G>T (p.Leu4100=)
c.12297G>T (p.Leu4099=)
c.12282G>T (p.Leu4094=)
c.12276G>T (p.Leu4092=)
c.12273G>T (p.Leu4091=)
c.12246G>T (p.Leu4082=)
c.12228G>T (p.Leu4076=)
c.12174G>T (p.Leu4058=)
c.12093G>T (p.Leu4031=)
c.12036G>T (p.Leu4012=)
c.10122G>T (p.Leu3374=)
c.9300G>T (p.Leu3100=)
n.12140G>T
c.12342G>T (p.Leu4114=)
c.12270G>T (p.Leu4090=)
c.12132G>T (p.Leu4044=)
c.10218G>T (p.Leu3406=)
16g.2090507C=CA2202041926PKD1c.12222G= (p.Leu4074=)
c.12219G= (p.Leu4073=)
n.250G=
c.9177G= (p.Leu3059=)
c.12300G= (p.Leu4100=)
c.12297G= (p.Leu4099=)
c.12282G= (p.Leu4094=)
c.12276G= (p.Leu4092=)
c.12273G= (p.Leu4091=)
c.12246G= (p.Leu4082=)
c.12228G= (p.Leu4076=)
c.12174G= (p.Leu4058=)
c.12093G= (p.Leu4031=)
c.12036G= (p.Leu4012=)
c.10122G= (p.Leu3374=)
c.9300G= (p.Leu3100=)
n.12140G=
c.12342G= (p.Leu4114=)
c.12270G= (p.Leu4090=)
c.12132G= (p.Leu4044=)
c.10218G= (p.Leu3406=)
16g.2090507C>GCA493044237PKD1c.12222G>C (p.Leu4074=)
c.12219G>C (p.Leu4073=)
n.250G>C
c.9177G>C (p.Leu3059=)
c.12300G>C (p.Leu4100=)
c.12297G>C (p.Leu4099=)
c.12282G>C (p.Leu4094=)
c.12276G>C (p.Leu4092=)
c.12273G>C (p.Leu4091=)
c.12246G>C (p.Leu4082=)
c.12228G>C (p.Leu4076=)
c.12174G>C (p.Leu4058=)
c.12093G>C (p.Leu4031=)
c.12036G>C (p.Leu4012=)
c.10122G>C (p.Leu3374=)
c.9300G>C (p.Leu3100=)
n.12140G>C
c.12342G>C (p.Leu4114=)
c.12270G>C (p.Leu4090=)
c.12132G>C (p.Leu4044=)
c.10218G>C (p.Leu3406=)
 dbSNP gnomAD v2 gnomAD v4
16g.2090507C>TCA493044235PKD1c.12222G>A (p.Leu4074=)
c.12219G>A (p.Leu4073=)
n.250G>A
c.9177G>A (p.Leu3059=)
c.12300G>A (p.Leu4100=)
c.12297G>A (p.Leu4099=)
c.12282G>A (p.Leu4094=)
c.12276G>A (p.Leu4092=)
c.12273G>A (p.Leu4091=)
c.12246G>A (p.Leu4082=)
c.12228G>A (p.Leu4076=)
c.12174G>A (p.Leu4058=)
c.12093G>A (p.Leu4031=)
c.12036G>A (p.Leu4012=)
c.10122G>A (p.Leu3374=)
c.9300G>A (p.Leu3100=)
n.12140G>A
c.12342G>A (p.Leu4114=)
c.12270G>A (p.Leu4090=)
c.12132G>A (p.Leu4044=)
c.10218G>A (p.Leu3406=)
 gnomAD v4 COSMIC
16g.2090507_2090512delinsCAGGGTCA2202041928PKD1c.12217_12222delinsACCCTG (p.Thr4073=)
c.12214_12219delinsACCCTG (p.Thr4072=)
n.245_250delinsACCCTG
c.9172_9177delinsACCCTG (p.Thr3058=)
c.12295_12300delinsACCCTG (p.Thr4099=)
c.12292_12297delinsACCCTG (p.Thr4098=)
c.12277_12282delinsACCCTG (p.Thr4093=)
c.12271_12276delinsACCCTG (p.Thr4091=)
c.12268_12273delinsACCCTG (p.Thr4090=)
c.12241_12246delinsACCCTG (p.Thr4081=)
c.12223_12228delinsACCCTG (p.Thr4075=)
c.12169_12174delinsACCCTG (p.Thr4057=)
c.12088_12093delinsACCCTG (p.Thr4030=)
c.12031_12036delinsACCCTG (p.Thr4011=)
c.10117_10122delinsACCCTG (p.Thr3373=)
c.9295_9300delinsACCCTG (p.Thr3099=)
n.12135_12140delinsACCCTG
c.12337_12342delinsACCCTG (p.Thr4113=)
c.12265_12270delinsACCCTG (p.Thr4089=)
c.12127_12132delinsACCCTG (p.Thr4043=)
c.10213_10218delinsACCCTG (p.Thr3405=)
16g.2090512_2090531delCA2695221555PKD1c.12203_12222del (p.Gly4068ValfsTer?)
c.12200_12219del (p.Gly4067ValfsTer?)
n.231_250del
c.9158_9177del (p.Gly3053ValfsTer?)
c.12281_12300del (p.Gly4094ValfsTer?)
c.12278_12297del (p.Gly4093ValfsTer?)
c.12263_12282del (p.Gly4088ValfsTer?)
c.12257_12276del (p.Gly4086ValfsTer?)
c.12254_12273del (p.Gly4085ValfsTer?)
c.12227_12246del (p.Gly4076ValfsTer?)
c.12209_12228del (p.Gly4070ValfsTer?)
c.12155_12174del (p.Gly4052ValfsTer?)
c.12074_12093del (p.Gly4025ValfsTer?)
c.12017_12036del (p.Gly4006ValfsTer?)
c.10103_10122del (p.Gly3368ValfsTer?)
c.9281_9300del (p.Gly3094ValfsTer?)
n.12121_12140del
c.12323_12342del (p.Gly4108ValfsTer?)
c.12251_12270del (p.Gly4084ValfsTer?)
c.12113_12132del (p.Gly4038ValfsTer?)
c.10199_10218del (p.Gly3400ValfsTer?)
16g.2090508A=CA2202041936PKD1c.12221T= (p.Leu4074=)
c.12218T= (p.Leu4073=)
n.249T=
c.9176T= (p.Leu3059=)
c.12299T= (p.Leu4100=)
c.12296T= (p.Leu4099=)
c.12281T= (p.Leu4094=)
c.12275T= (p.Leu4092=)
c.12272T= (p.Leu4091=)
c.12245T= (p.Leu4082=)
c.12227T= (p.Leu4076=)
c.12173T= (p.Leu4058=)
c.12092T= (p.Leu4031=)
c.12035T= (p.Leu4012=)
c.10121T= (p.Leu3374=)
c.9299T= (p.Leu3100=)
n.12139T=
c.12341T= (p.Leu4114=)
c.12269T= (p.Leu4090=)
c.12131T= (p.Leu4044=)
c.10217T= (p.Leu3406=)
16g.2090508A>CCA394326250PKD1c.12221T>G (p.Leu4074Arg)
c.12218T>G (p.Leu4073Arg)
n.249T>G
c.9176T>G (p.Leu3059Arg)
c.12299T>G (p.Leu4100Arg)
c.12296T>G (p.Leu4099Arg)
c.12281T>G (p.Leu4094Arg)
c.12275T>G (p.Leu4092Arg)
c.12272T>G (p.Leu4091Arg)
c.12245T>G (p.Leu4082Arg)
c.12227T>G (p.Leu4076Arg)
c.12173T>G (p.Leu4058Arg)
c.12092T>G (p.Leu4031Arg)
c.12035T>G (p.Leu4012Arg)
c.10121T>G (p.Leu3374Arg)
c.9299T>G (p.Leu3100Arg)
n.12139T>G
c.12341T>G (p.Leu4114Arg)
c.12269T>G (p.Leu4090Arg)
c.12131T>G (p.Leu4044Arg)
c.10217T>G (p.Leu3406Arg)
 gnomAD v4
16g.2090508A>GCA394326253PKD1c.12221T>C (p.Leu4074Pro)
c.12218T>C (p.Leu4073Pro)
n.249T>C
c.9176T>C (p.Leu3059Pro)
c.12299T>C (p.Leu4100Pro)
c.12296T>C (p.Leu4099Pro)
c.12281T>C (p.Leu4094Pro)
c.12275T>C (p.Leu4092Pro)
c.12272T>C (p.Leu4091Pro)
c.12245T>C (p.Leu4082Pro)
c.12227T>C (p.Leu4076Pro)
c.12173T>C (p.Leu4058Pro)
c.12092T>C (p.Leu4031Pro)
c.12035T>C (p.Leu4012Pro)
c.10121T>C (p.Leu3374Pro)
c.9299T>C (p.Leu3100Pro)
n.12139T>C
c.12341T>C (p.Leu4114Pro)
c.12269T>C (p.Leu4090Pro)
c.12131T>C (p.Leu4044Pro)
c.10217T>C (p.Leu3406Pro)
 dbSNP gnomAD v4
16g.2090508A>TCA394326251PKD1c.12221T>A (p.Leu4074Gln)
c.12218T>A (p.Leu4073Gln)
n.249T>A
c.9176T>A (p.Leu3059Gln)
c.12299T>A (p.Leu4100Gln)
c.12296T>A (p.Leu4099Gln)
c.12281T>A (p.Leu4094Gln)
c.12275T>A (p.Leu4092Gln)
c.12272T>A (p.Leu4091Gln)
c.12245T>A (p.Leu4082Gln)
c.12227T>A (p.Leu4076Gln)
c.12173T>A (p.Leu4058Gln)
c.12092T>A (p.Leu4031Gln)
c.12035T>A (p.Leu4012Gln)
c.10121T>A (p.Leu3374Gln)
c.9299T>A (p.Leu3100Gln)
n.12139T>A
c.12341T>A (p.Leu4114Gln)
c.12269T>A (p.Leu4090Gln)
c.12131T>A (p.Leu4044Gln)
c.10217T>A (p.Leu3406Gln)
16g.2090508_2090509delCA2631135526PKD1c.12220_12221del (p.Leu4074ValfsTer?)
c.12217_12218del (p.Leu4073ValfsTer?)
n.248_249del
c.9175_9176del (p.Leu3059ValfsTer?)
c.12298_12299del (p.Leu4100ValfsTer?)
c.12295_12296del (p.Leu4099ValfsTer?)
c.12280_12281del (p.Leu4094ValfsTer?)
c.12274_12275del (p.Leu4092ValfsTer?)
c.12271_12272del (p.Leu4091ValfsTer?)
c.12244_12245del (p.Leu4082ValfsTer?)
c.12226_12227del (p.Leu4076ValfsTer?)
c.12172_12173del (p.Leu4058ValfsTer?)
c.12091_12092del (p.Leu4031ValfsTer?)
c.12034_12035del (p.Leu4012ValfsTer?)
c.10120_10121del (p.Leu3374ValfsTer?)
c.9298_9299del (p.Leu3100ValfsTer?)
n.12138_12139del
c.12340_12341del (p.Leu4114ValfsTer?)
c.12268_12269del (p.Leu4090ValfsTer?)
c.12130_12131del (p.Leu4044ValfsTer?)
c.10216_10217del (p.Leu3406ValfsTer?)
 gnomAD v4
16g.2090510_2090514delCA913191022PKD1c.12217_12221del (p.Thr4073ValfsTer?)
c.12214_12218del (p.Thr4072ValfsTer?)
n.245_249del
c.9172_9176del (p.Thr3058ValfsTer?)
c.12295_12299del (p.Thr4099ValfsTer?)
c.12292_12296del (p.Thr4098ValfsTer?)
c.12277_12281del (p.Thr4093ValfsTer?)
c.12271_12275del (p.Thr4091ValfsTer?)
c.12268_12272del (p.Thr4090ValfsTer?)
c.12241_12245del (p.Thr4081ValfsTer?)
c.12223_12227del (p.Thr4075ValfsTer?)
c.12169_12173del (p.Thr4057ValfsTer?)
c.12088_12092del (p.Thr4030ValfsTer?)
c.12031_12035del (p.Thr4011ValfsTer?)
c.10117_10121del (p.Thr3373ValfsTer?)
c.9295_9299del (p.Thr3099ValfsTer?)
n.12135_12139del
c.12337_12341del (p.Thr4113ValfsTer?)
c.12265_12269del (p.Thr4089ValfsTer?)
c.12127_12131del (p.Thr4043ValfsTer?)
c.10213_10217del (p.Thr3405ValfsTer?)
 ClinVar dbSNP
16g.2090509G>ACA7828716PKD1c.12220C>T (p.Leu4074=)
c.12217C>T (p.Leu4073=)
n.248C>T
c.9175C>T (p.Leu3059=)
c.12298C>T (p.Leu4100=)
c.12295C>T (p.Leu4099=)
c.12280C>T (p.Leu4094=)
c.12274C>T (p.Leu4092=)
c.12271C>T (p.Leu4091=)
c.12244C>T (p.Leu4082=)
c.12226C>T (p.Leu4076=)
c.12172C>T (p.Leu4058=)
c.12091C>T (p.Leu4031=)
c.12034C>T (p.Leu4012=)
c.10120C>T (p.Leu3374=)
c.9298C>T (p.Leu3100=)
n.12138C>T
c.12340C>T (p.Leu4114=)
c.12268C>T (p.Leu4090=)
c.12130C>T (p.Leu4044=)
c.10216C>T (p.Leu3406=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2090509G>CCA394326259PKD1c.12220C>G (p.Leu4074Val)
c.12217C>G (p.Leu4073Val)
n.248C>G
c.9175C>G (p.Leu3059Val)
c.12298C>G (p.Leu4100Val)
c.12295C>G (p.Leu4099Val)
c.12280C>G (p.Leu4094Val)
c.12274C>G (p.Leu4092Val)
c.12271C>G (p.Leu4091Val)
c.12244C>G (p.Leu4082Val)
c.12226C>G (p.Leu4076Val)
c.12172C>G (p.Leu4058Val)
c.12091C>G (p.Leu4031Val)
c.12034C>G (p.Leu4012Val)
c.10120C>G (p.Leu3374Val)
c.9298C>G (p.Leu3100Val)
n.12138C>G
c.12340C>G (p.Leu4114Val)
c.12268C>G (p.Leu4090Val)
c.12130C>G (p.Leu4044Val)
c.10216C>G (p.Leu3406Val)
 gnomAD v4
16g.2090509G=CA2202041939PKD1c.12220C= (p.Leu4074=)
c.12217C= (p.Leu4073=)
n.248C=
c.9175C= (p.Leu3059=)
c.12298C= (p.Leu4100=)
c.12295C= (p.Leu4099=)
c.12280C= (p.Leu4094=)
c.12274C= (p.Leu4092=)
c.12271C= (p.Leu4091=)
c.12244C= (p.Leu4082=)
c.12226C= (p.Leu4076=)
c.12172C= (p.Leu4058=)
c.12091C= (p.Leu4031=)
c.12034C= (p.Leu4012=)
c.10120C= (p.Leu3374=)
c.9298C= (p.Leu3100=)
n.12138C=
c.12340C= (p.Leu4114=)
c.12268C= (p.Leu4090=)
c.12130C= (p.Leu4044=)
c.10216C= (p.Leu3406=)
16g.2090509G>TCA394326261PKD1c.12220C>A (p.Leu4074Met)
c.12217C>A (p.Leu4073Met)
n.248C>A
c.9175C>A (p.Leu3059Met)
c.12298C>A (p.Leu4100Met)
c.12295C>A (p.Leu4099Met)
c.12280C>A (p.Leu4094Met)
c.12274C>A (p.Leu4092Met)
c.12271C>A (p.Leu4091Met)
c.12244C>A (p.Leu4082Met)
c.12226C>A (p.Leu4076Met)
c.12172C>A (p.Leu4058Met)
c.12091C>A (p.Leu4031Met)
c.12034C>A (p.Leu4012Met)
c.10120C>A (p.Leu3374Met)
c.9298C>A (p.Leu3100Met)
n.12138C>A
c.12340C>A (p.Leu4114Met)
c.12268C>A (p.Leu4090Met)
c.12130C>A (p.Leu4044Met)
c.10216C>A (p.Leu3406Met)
 dbSNP gnomAD v4
16g.2090510G>ACA493044240PKD1c.12219C>T (p.Thr4073=)
c.12216C>T (p.Thr4072=)
n.247C>T
c.9174C>T (p.Thr3058=)
c.12297C>T (p.Thr4099=)
c.12294C>T (p.Thr4098=)
c.12279C>T (p.Thr4093=)
c.12273C>T (p.Thr4091=)
c.12270C>T (p.Thr4090=)
c.12243C>T (p.Thr4081=)
c.12225C>T (p.Thr4075=)
c.12171C>T (p.Thr4057=)
c.12090C>T (p.Thr4030=)
c.12033C>T (p.Thr4011=)
c.10119C>T (p.Thr3373=)
c.9297C>T (p.Thr3099=)
n.12137C>T
c.12339C>T (p.Thr4113=)
c.12267C>T (p.Thr4089=)
c.12129C>T (p.Thr4043=)
c.10215C>T (p.Thr3405=)
 gnomAD v4
16g.2090510G>CCA493044242PKD1c.12219C>G (p.Thr4073=)
c.12216C>G (p.Thr4072=)
n.247C>G
c.9174C>G (p.Thr3058=)
c.12297C>G (p.Thr4099=)
c.12294C>G (p.Thr4098=)
c.12279C>G (p.Thr4093=)
c.12273C>G (p.Thr4091=)
c.12270C>G (p.Thr4090=)
c.12243C>G (p.Thr4081=)
c.12225C>G (p.Thr4075=)
c.12171C>G (p.Thr4057=)
c.12090C>G (p.Thr4030=)
c.12033C>G (p.Thr4011=)
c.10119C>G (p.Thr3373=)
c.9297C>G (p.Thr3099=)
n.12137C>G
c.12339C>G (p.Thr4113=)
c.12267C>G (p.Thr4089=)
c.12129C>G (p.Thr4043=)
c.10215C>G (p.Thr3405=)
 dbSNP
16g.2090510G=CA2202041941PKD1c.12219C= (p.Thr4073=)
c.12216C= (p.Thr4072=)
n.247C=
c.9174C= (p.Thr3058=)
c.12297C= (p.Thr4099=)
c.12294C= (p.Thr4098=)
c.12279C= (p.Thr4093=)
c.12273C= (p.Thr4091=)
c.12270C= (p.Thr4090=)
c.12243C= (p.Thr4081=)
c.12225C= (p.Thr4075=)
c.12171C= (p.Thr4057=)
c.12090C= (p.Thr4030=)
c.12033C= (p.Thr4011=)
c.10119C= (p.Thr3373=)
c.9297C= (p.Thr3099=)
n.12137C=
c.12339C= (p.Thr4113=)
c.12267C= (p.Thr4089=)
c.12129C= (p.Thr4043=)
c.10215C= (p.Thr3405=)
16g.2090510G>TCA7828717PKD1c.12219C>A (p.Thr4073=)
c.12216C>A (p.Thr4072=)
n.247C>A
c.9174C>A (p.Thr3058=)
c.12297C>A (p.Thr4099=)
c.12294C>A (p.Thr4098=)
c.12279C>A (p.Thr4093=)
c.12273C>A (p.Thr4091=)
c.12270C>A (p.Thr4090=)
c.12243C>A (p.Thr4081=)
c.12225C>A (p.Thr4075=)
c.12171C>A (p.Thr4057=)
c.12090C>A (p.Thr4030=)
c.12033C>A (p.Thr4011=)
c.10119C>A (p.Thr3373=)
c.9297C>A (p.Thr3099=)
n.12137C>A
c.12339C>A (p.Thr4113=)
c.12267C>A (p.Thr4089=)
c.12129C>A (p.Thr4043=)
c.10215C>A (p.Thr3405=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090511G>ACA7828718PKD1c.12218C>T (p.Thr4073Ile)
c.12215C>T (p.Thr4072Ile)
n.246C>T
c.9173C>T (p.Thr3058Ile)
c.12296C>T (p.Thr4099Ile)
c.12293C>T (p.Thr4098Ile)
c.12278C>T (p.Thr4093Ile)
c.12272C>T (p.Thr4091Ile)
c.12269C>T (p.Thr4090Ile)
c.12242C>T (p.Thr4081Ile)
c.12224C>T (p.Thr4075Ile)
c.12170C>T (p.Thr4057Ile)
c.12089C>T (p.Thr4030Ile)
c.12032C>T (p.Thr4011Ile)
c.10118C>T (p.Thr3373Ile)
c.9296C>T (p.Thr3099Ile)
n.12136C>T
c.12338C>T (p.Thr4113Ile)
c.12266C>T (p.Thr4089Ile)
c.12128C>T (p.Thr4043Ile)
c.10214C>T (p.Thr3405Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090511G>CCA394326266PKD1c.12218C>G (p.Thr4073Ser)
c.12215C>G (p.Thr4072Ser)
n.246C>G
c.9173C>G (p.Thr3058Ser)
c.12296C>G (p.Thr4099Ser)
c.12293C>G (p.Thr4098Ser)
c.12278C>G (p.Thr4093Ser)
c.12272C>G (p.Thr4091Ser)
c.12269C>G (p.Thr4090Ser)
c.12242C>G (p.Thr4081Ser)
c.12224C>G (p.Thr4075Ser)
c.12170C>G (p.Thr4057Ser)
c.12089C>G (p.Thr4030Ser)
c.12032C>G (p.Thr4011Ser)
c.10118C>G (p.Thr3373Ser)
c.9296C>G (p.Thr3099Ser)
n.12136C>G
c.12338C>G (p.Thr4113Ser)
c.12266C>G (p.Thr4089Ser)
c.12128C>G (p.Thr4043Ser)
c.10214C>G (p.Thr3405Ser)
16g.2090511G=CA2202041944PKD1c.12218C= (p.Thr4073=)
c.12215C= (p.Thr4072=)
n.246C=
c.9173C= (p.Thr3058=)
c.12296C= (p.Thr4099=)
c.12293C= (p.Thr4098=)
c.12278C= (p.Thr4093=)
c.12272C= (p.Thr4091=)
c.12269C= (p.Thr4090=)
c.12242C= (p.Thr4081=)
c.12224C= (p.Thr4075=)
c.12170C= (p.Thr4057=)
c.12089C= (p.Thr4030=)
c.12032C= (p.Thr4011=)
c.10118C= (p.Thr3373=)
c.9296C= (p.Thr3099=)
n.12136C=
c.12338C= (p.Thr4113=)
c.12266C= (p.Thr4089=)
c.12128C= (p.Thr4043=)
c.10214C= (p.Thr3405=)
16g.2090511G>TCA394326268PKD1c.12218C>A (p.Thr4073Asn)
c.12215C>A (p.Thr4072Asn)
n.246C>A
c.9173C>A (p.Thr3058Asn)
c.12296C>A (p.Thr4099Asn)
c.12293C>A (p.Thr4098Asn)
c.12278C>A (p.Thr4093Asn)
c.12272C>A (p.Thr4091Asn)
c.12269C>A (p.Thr4090Asn)
c.12242C>A (p.Thr4081Asn)
c.12224C>A (p.Thr4075Asn)
c.12170C>A (p.Thr4057Asn)
c.12089C>A (p.Thr4030Asn)
c.12032C>A (p.Thr4011Asn)
c.10118C>A (p.Thr3373Asn)
c.9296C>A (p.Thr3099Asn)
n.12136C>A
c.12338C>A (p.Thr4113Asn)
c.12266C>A (p.Thr4089Asn)
c.12128C>A (p.Thr4043Asn)
c.10214C>A (p.Thr3405Asn)
16g.2090512T>ACA394326269PKD1c.12217A>T (p.Thr4073Ser)
c.12214A>T (p.Thr4072Ser)
n.245A>T
c.9172A>T (p.Thr3058Ser)
c.12295A>T (p.Thr4099Ser)
c.12292A>T (p.Thr4098Ser)
c.12277A>T (p.Thr4093Ser)
c.12271A>T (p.Thr4091Ser)
c.12268A>T (p.Thr4090Ser)
c.12241A>T (p.Thr4081Ser)
c.12223A>T (p.Thr4075Ser)
c.12169A>T (p.Thr4057Ser)
c.12088A>T (p.Thr4030Ser)
c.12031A>T (p.Thr4011Ser)
c.10117A>T (p.Thr3373Ser)
c.9295A>T (p.Thr3099Ser)
n.12135A>T
c.12337A>T (p.Thr4113Ser)
c.12265A>T (p.Thr4089Ser)
c.12127A>T (p.Thr4043Ser)
c.10213A>T (p.Thr3405Ser)
16g.2090512T>CCA394326270PKD1c.12217A>G (p.Thr4073Ala)
c.12214A>G (p.Thr4072Ala)
n.245A>G
c.9172A>G (p.Thr3058Ala)
c.12295A>G (p.Thr4099Ala)
c.12292A>G (p.Thr4098Ala)
c.12277A>G (p.Thr4093Ala)
c.12271A>G (p.Thr4091Ala)
c.12268A>G (p.Thr4090Ala)
c.12241A>G (p.Thr4081Ala)
c.12223A>G (p.Thr4075Ala)
c.12169A>G (p.Thr4057Ala)
c.12088A>G (p.Thr4030Ala)
c.12031A>G (p.Thr4011Ala)
c.10117A>G (p.Thr3373Ala)
c.9295A>G (p.Thr3099Ala)
n.12135A>G
c.12337A>G (p.Thr4113Ala)
c.12265A>G (p.Thr4089Ala)
c.12127A>G (p.Thr4043Ala)
c.10213A>G (p.Thr3405Ala)
 gnomAD v4 COSMIC
16g.2090512T>GCA394326271PKD1c.12217A>C (p.Thr4073Pro)
c.12214A>C (p.Thr4072Pro)
n.245A>C
c.9172A>C (p.Thr3058Pro)
c.12295A>C (p.Thr4099Pro)
c.12292A>C (p.Thr4098Pro)
c.12277A>C (p.Thr4093Pro)
c.12271A>C (p.Thr4091Pro)
c.12268A>C (p.Thr4090Pro)
c.12241A>C (p.Thr4081Pro)
c.12223A>C (p.Thr4075Pro)
c.12169A>C (p.Thr4057Pro)
c.12088A>C (p.Thr4030Pro)
c.12031A>C (p.Thr4011Pro)
c.10117A>C (p.Thr3373Pro)
c.9295A>C (p.Thr3099Pro)
n.12135A>C
c.12337A>C (p.Thr4113Pro)
c.12265A>C (p.Thr4089Pro)
c.12127A>C (p.Thr4043Pro)
c.10213A>C (p.Thr3405Pro)
16g.2090513A>CCA493044244PKD1c.12216T>G (p.Ser4072=)
c.12213T>G (p.Ser4071=)
n.244T>G
c.9171T>G (p.Ser3057=)
c.12294T>G (p.Ser4098=)
c.12291T>G (p.Ser4097=)
c.12276T>G (p.Ser4092=)
c.12270T>G (p.Ser4090=)
c.12267T>G (p.Ser4089=)
c.12240T>G (p.Ser4080=)
c.12222T>G (p.Ser4074=)
c.12168T>G (p.Ser4056=)
c.12087T>G (p.Ser4029=)
c.12030T>G (p.Ser4010=)
c.10116T>G (p.Ser3372=)
c.9294T>G (p.Ser3098=)
n.12134T>G
c.12336T>G (p.Ser4112=)
c.12264T>G (p.Ser4088=)
c.12126T>G (p.Ser4042=)
c.10212T>G (p.Ser3404=)
16g.2090513A>GCA493044245PKD1c.12216T>C (p.Ser4072=)
c.12213T>C (p.Ser4071=)
n.244T>C
c.9171T>C (p.Ser3057=)
c.12294T>C (p.Ser4098=)
c.12291T>C (p.Ser4097=)
c.12276T>C (p.Ser4092=)
c.12270T>C (p.Ser4090=)
c.12267T>C (p.Ser4089=)
c.12240T>C (p.Ser4080=)
c.12222T>C (p.Ser4074=)
c.12168T>C (p.Ser4056=)
c.12087T>C (p.Ser4029=)
c.12030T>C (p.Ser4010=)
c.10116T>C (p.Ser3372=)
c.9294T>C (p.Ser3098=)
n.12134T>C
c.12336T>C (p.Ser4112=)
c.12264T>C (p.Ser4088=)
c.12126T>C (p.Ser4042=)
c.10212T>C (p.Ser3404=)
16g.2090513A>TCA493044246PKD1c.12216T>A (p.Ser4072=)
c.12213T>A (p.Ser4071=)
n.244T>A
c.9171T>A (p.Ser3057=)
c.12294T>A (p.Ser4098=)
c.12291T>A (p.Ser4097=)
c.12276T>A (p.Ser4092=)
c.12270T>A (p.Ser4090=)
c.12267T>A (p.Ser4089=)
c.12240T>A (p.Ser4080=)
c.12222T>A (p.Ser4074=)
c.12168T>A (p.Ser4056=)
c.12087T>A (p.Ser4029=)
c.12030T>A (p.Ser4010=)
c.10116T>A (p.Ser3372=)
c.9294T>A (p.Ser3098=)
n.12134T>A
c.12336T>A (p.Ser4112=)
c.12264T>A (p.Ser4088=)
c.12126T>A (p.Ser4042=)
c.10212T>A (p.Ser3404=)
16g.2090517_2090518delCA2580612738PKD1c.12215_12216del (p.Ser4072TyrfsTer?)
c.12212_12213del (p.Ser4071TyrfsTer?)
n.243_244del
c.9170_9171del (p.Ser3057TyrfsTer?)
c.12293_12294del (p.Ser4098TyrfsTer?)
c.12290_12291del (p.Ser4097TyrfsTer?)
c.12275_12276del (p.Ser4092TyrfsTer?)
c.12269_12270del (p.Ser4090TyrfsTer?)
c.12266_12267del (p.Ser4089TyrfsTer?)
c.12239_12240del (p.Ser4080TyrfsTer?)
c.12221_12222del (p.Ser4074TyrfsTer?)
c.12167_12168del (p.Ser4056TyrfsTer?)
c.12086_12087del (p.Ser4029TyrfsTer?)
c.12029_12030del (p.Ser4010TyrfsTer?)
c.10115_10116del (p.Ser3372TyrfsTer?)
c.9293_9294del (p.Ser3098TyrfsTer?)
n.12133_12134del
c.12335_12336del (p.Ser4112TyrfsTer?)
c.12263_12264del (p.Ser4088TyrfsTer?)
c.12125_12126del (p.Ser4042TyrfsTer?)
c.10211_10212del (p.Ser3404TyrfsTer?)
 ClinVar
16g.2090514G>ACA394326273PKD1c.12215C>T (p.Ser4072Phe)
c.12212C>T (p.Ser4071Phe)
n.243C>T
c.9170C>T (p.Ser3057Phe)
c.12293C>T (p.Ser4098Phe)
c.12290C>T (p.Ser4097Phe)
c.12275C>T (p.Ser4092Phe)
c.12269C>T (p.Ser4090Phe)
c.12266C>T (p.Ser4089Phe)
c.12239C>T (p.Ser4080Phe)
c.12221C>T (p.Ser4074Phe)
c.12167C>T (p.Ser4056Phe)
c.12086C>T (p.Ser4029Phe)
c.12029C>T (p.Ser4010Phe)
c.10115C>T (p.Ser3372Phe)
c.9293C>T (p.Ser3098Phe)
n.12133C>T
c.12335C>T (p.Ser4112Phe)
c.12263C>T (p.Ser4088Phe)
c.12125C>T (p.Ser4042Phe)
c.10211C>T (p.Ser3404Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2090514G>CCA394326275PKD1c.12215C>G (p.Ser4072Cys)
c.12212C>G (p.Ser4071Cys)
n.243C>G
c.9170C>G (p.Ser3057Cys)
c.12293C>G (p.Ser4098Cys)
c.12290C>G (p.Ser4097Cys)
c.12275C>G (p.Ser4092Cys)
c.12269C>G (p.Ser4090Cys)
c.12266C>G (p.Ser4089Cys)
c.12239C>G (p.Ser4080Cys)
c.12221C>G (p.Ser4074Cys)
c.12167C>G (p.Ser4056Cys)
c.12086C>G (p.Ser4029Cys)
c.12029C>G (p.Ser4010Cys)
c.10115C>G (p.Ser3372Cys)
c.9293C>G (p.Ser3098Cys)
n.12133C>G
c.12335C>G (p.Ser4112Cys)
c.12263C>G (p.Ser4088Cys)
c.12125C>G (p.Ser4042Cys)
c.10211C>G (p.Ser3404Cys)
16g.2090514G=CA2202041947PKD1c.12215C= (p.Ser4072=)
c.12212C= (p.Ser4071=)
n.243C=
c.9170C= (p.Ser3057=)
c.12293C= (p.Ser4098=)
c.12290C= (p.Ser4097=)
c.12275C= (p.Ser4092=)
c.12269C= (p.Ser4090=)
c.12266C= (p.Ser4089=)
c.12239C= (p.Ser4080=)
c.12221C= (p.Ser4074=)
c.12167C= (p.Ser4056=)
c.12086C= (p.Ser4029=)
c.12029C= (p.Ser4010=)
c.10115C= (p.Ser3372=)
c.9293C= (p.Ser3098=)
n.12133C=
c.12335C= (p.Ser4112=)
c.12263C= (p.Ser4088=)
c.12125C= (p.Ser4042=)
c.10211C= (p.Ser3404=)
16g.2090514G>TCA394326278PKD1c.12215C>A (p.Ser4072Tyr)
c.12212C>A (p.Ser4071Tyr)
n.243C>A
c.9170C>A (p.Ser3057Tyr)
c.12293C>A (p.Ser4098Tyr)
c.12290C>A (p.Ser4097Tyr)
c.12275C>A (p.Ser4092Tyr)
c.12269C>A (p.Ser4090Tyr)
c.12266C>A (p.Ser4089Tyr)
c.12239C>A (p.Ser4080Tyr)
c.12221C>A (p.Ser4074Tyr)
c.12167C>A (p.Ser4056Tyr)
c.12086C>A (p.Ser4029Tyr)
c.12029C>A (p.Ser4010Tyr)
c.10115C>A (p.Ser3372Tyr)
c.9293C>A (p.Ser3098Tyr)
n.12133C>A
c.12335C>A (p.Ser4112Tyr)
c.12263C>A (p.Ser4088Tyr)
c.12125C>A (p.Ser4042Tyr)
c.10211C>A (p.Ser3404Tyr)
 gnomAD v4
16g.2090515A=CA2202041949PKD1c.12214T= (p.Ser4072=)
c.12211T= (p.Ser4071=)
n.242T=
c.9169T= (p.Ser3057=)
c.12292T= (p.Ser4098=)
c.12289T= (p.Ser4097=)
c.12274T= (p.Ser4092=)
c.12268T= (p.Ser4090=)
c.12265T= (p.Ser4089=)
c.12238T= (p.Ser4080=)
c.12220T= (p.Ser4074=)
c.12166T= (p.Ser4056=)
c.12085T= (p.Ser4029=)
c.12028T= (p.Ser4010=)
c.10114T= (p.Ser3372=)
c.9292T= (p.Ser3098=)
n.12132T=
c.12334T= (p.Ser4112=)
c.12262T= (p.Ser4088=)
c.12124T= (p.Ser4042=)
c.10210T= (p.Ser3404=)
16g.2090515A>CCA394326289PKD1c.12214T>G (p.Ser4072Ala)
c.12211T>G (p.Ser4071Ala)
n.242T>G
c.9169T>G (p.Ser3057Ala)
c.12292T>G (p.Ser4098Ala)
c.12289T>G (p.Ser4097Ala)
c.12274T>G (p.Ser4092Ala)
c.12268T>G (p.Ser4090Ala)
c.12265T>G (p.Ser4089Ala)
c.12238T>G (p.Ser4080Ala)
c.12220T>G (p.Ser4074Ala)
c.12166T>G (p.Ser4056Ala)
c.12085T>G (p.Ser4029Ala)
c.12028T>G (p.Ser4010Ala)
c.10114T>G (p.Ser3372Ala)
c.9292T>G (p.Ser3098Ala)
n.12132T>G
c.12334T>G (p.Ser4112Ala)
c.12262T>G (p.Ser4088Ala)
c.12124T>G (p.Ser4042Ala)
c.10210T>G (p.Ser3404Ala)
16g.2090515A>GCA276764176PKD1c.12214T>C (p.Ser4072Pro)
c.12211T>C (p.Ser4071Pro)
n.242T>C
c.9169T>C (p.Ser3057Pro)
c.12292T>C (p.Ser4098Pro)
c.12289T>C (p.Ser4097Pro)
c.12274T>C (p.Ser4092Pro)
c.12268T>C (p.Ser4090Pro)
c.12265T>C (p.Ser4089Pro)
c.12238T>C (p.Ser4080Pro)
c.12220T>C (p.Ser4074Pro)
c.12166T>C (p.Ser4056Pro)
c.12085T>C (p.Ser4029Pro)
c.12028T>C (p.Ser4010Pro)
c.10114T>C (p.Ser3372Pro)
c.9292T>C (p.Ser3098Pro)
n.12132T>C
c.12334T>C (p.Ser4112Pro)
c.12262T>C (p.Ser4088Pro)
c.12124T>C (p.Ser4042Pro)
c.10210T>C (p.Ser3404Pro)
 dbSNP gnomAD v4
16g.2090515A>TCA394326285PKD1c.12214T>A (p.Ser4072Thr)
c.12211T>A (p.Ser4071Thr)
n.242T>A
c.9169T>A (p.Ser3057Thr)
c.12292T>A (p.Ser4098Thr)
c.12289T>A (p.Ser4097Thr)
c.12274T>A (p.Ser4092Thr)
c.12268T>A (p.Ser4090Thr)
c.12265T>A (p.Ser4089Thr)
c.12238T>A (p.Ser4080Thr)
c.12220T>A (p.Ser4074Thr)
c.12166T>A (p.Ser4056Thr)
c.12085T>A (p.Ser4029Thr)
c.12028T>A (p.Ser4010Thr)
c.10114T>A (p.Ser3372Thr)
c.9292T>A (p.Ser3098Thr)
n.12132T>A
c.12334T>A (p.Ser4112Thr)
c.12262T>A (p.Ser4088Thr)
c.12124T>A (p.Ser4042Thr)
c.10210T>A (p.Ser3404Thr)
16g.2090516G>ACA7828719PKD1c.12213C>T (p.Leu4071=)
c.12210C>T (p.Leu4070=)
n.241C>T
c.9168C>T (p.Leu3056=)
c.12291C>T (p.Leu4097=)
c.12288C>T (p.Leu4096=)
c.12273C>T (p.Leu4091=)
c.12267C>T (p.Leu4089=)
c.12264C>T (p.Leu4088=)
c.12237C>T (p.Leu4079=)
c.12219C>T (p.Leu4073=)
c.12165C>T (p.Leu4055=)
c.12084C>T (p.Leu4028=)
c.12027C>T (p.Leu4009=)
c.10113C>T (p.Leu3371=)
c.9291C>T (p.Leu3097=)
n.12131C>T
c.12333C>T (p.Leu4111=)
c.12261C>T (p.Leu4087=)
c.12123C>T (p.Leu4041=)
c.10209C>T (p.Leu3403=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2090516G>CCA7828720PKD1c.12213C>G (p.Leu4071=)
c.12210C>G (p.Leu4070=)
n.241C>G
c.9168C>G (p.Leu3056=)
c.12291C>G (p.Leu4097=)
c.12288C>G (p.Leu4096=)
c.12273C>G (p.Leu4091=)
c.12267C>G (p.Leu4089=)
c.12264C>G (p.Leu4088=)
c.12237C>G (p.Leu4079=)
c.12219C>G (p.Leu4073=)
c.12165C>G (p.Leu4055=)
c.12084C>G (p.Leu4028=)
c.12027C>G (p.Leu4009=)
c.10113C>G (p.Leu3371=)
c.9291C>G (p.Leu3097=)
n.12131C>G
c.12333C>G (p.Leu4111=)
c.12261C>G (p.Leu4087=)
c.12123C>G (p.Leu4041=)
c.10209C>G (p.Leu3403=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2090516G=CA2202041953PKD1c.12213C= (p.Leu4071=)
c.12210C= (p.Leu4070=)
n.241C=
c.9168C= (p.Leu3056=)
c.12291C= (p.Leu4097=)
c.12288C= (p.Leu4096=)
c.12273C= (p.Leu4091=)
c.12267C= (p.Leu4089=)
c.12264C= (p.Leu4088=)
c.12237C= (p.Leu4079=)
c.12219C= (p.Leu4073=)
c.12165C= (p.Leu4055=)
c.12084C= (p.Leu4028=)
c.12027C= (p.Leu4009=)
c.10113C= (p.Leu3371=)
c.9291C= (p.Leu3097=)
n.12131C=
c.12333C= (p.Leu4111=)
c.12261C= (p.Leu4087=)
c.12123C= (p.Leu4041=)
c.10209C= (p.Leu3403=)
16g.2090516G>TCA493044247PKD1c.12213C>A (p.Leu4071=)
c.12210C>A (p.Leu4070=)
n.241C>A
c.9168C>A (p.Leu3056=)
c.12291C>A (p.Leu4097=)
c.12288C>A (p.Leu4096=)
c.12273C>A (p.Leu4091=)
c.12267C>A (p.Leu4089=)
c.12264C>A (p.Leu4088=)
c.12237C>A (p.Leu4079=)
c.12219C>A (p.Leu4073=)
c.12165C>A (p.Leu4055=)
c.12084C>A (p.Leu4028=)
c.12027C>A (p.Leu4009=)
c.10113C>A (p.Leu3371=)
c.9291C>A (p.Leu3097=)
n.12131C>A
c.12333C>A (p.Leu4111=)
c.12261C>A (p.Leu4087=)
c.12123C>A (p.Leu4041=)
c.10209C>A (p.Leu3403=)
16g.2090516_2090518delCA2805574407PKD1c.12211_12213del (p.Leu4071del)
c.12208_12210del (p.Leu4070del)
n.239_241del
c.9166_9168del (p.Leu3056del)
c.12289_12291del (p.Leu4097del)
c.12286_12288del (p.Leu4096del)
c.12271_12273del (p.Leu4091del)
c.12265_12267del (p.Leu4089del)
c.12262_12264del (p.Leu4088del)
c.12235_12237del (p.Leu4079del)
c.12217_12219del (p.Leu4073del)
c.12163_12165del (p.Leu4055del)
c.12082_12084del (p.Leu4028del)
c.12025_12027del (p.Leu4009del)
c.10111_10113del (p.Leu3371del)
c.9289_9291del (p.Leu3097del)
n.12129_12131del
c.12331_12333del (p.Leu4111del)
c.12259_12261del (p.Leu4087del)
c.12121_12123del (p.Leu4041del)
c.10207_10209del (p.Leu3403del)
16g.2090517A=CA2202041956PKD1c.12212T= (p.Leu4071=)
c.12209T= (p.Leu4070=)
n.240T=
c.9167T= (p.Leu3056=)
c.12290T= (p.Leu4097=)
c.12287T= (p.Leu4096=)
c.12272T= (p.Leu4091=)
c.12266T= (p.Leu4089=)
c.12263T= (p.Leu4088=)
c.12236T= (p.Leu4079=)
c.12218T= (p.Leu4073=)
c.12164T= (p.Leu4055=)
c.12083T= (p.Leu4028=)
c.12026T= (p.Leu4009=)
c.10112T= (p.Leu3371=)
c.9290T= (p.Leu3097=)
n.12130T=
c.12332T= (p.Leu4111=)
c.12260T= (p.Leu4087=)
c.12122T= (p.Leu4041=)
c.10208T= (p.Leu3403=)
16g.2090517A>CCA394326291PKD1c.12212T>G (p.Leu4071Arg)
c.12209T>G (p.Leu4070Arg)
n.240T>G
c.9167T>G (p.Leu3056Arg)
c.12290T>G (p.Leu4097Arg)
c.12287T>G (p.Leu4096Arg)
c.12272T>G (p.Leu4091Arg)
c.12266T>G (p.Leu4089Arg)
c.12263T>G (p.Leu4088Arg)
c.12236T>G (p.Leu4079Arg)
c.12218T>G (p.Leu4073Arg)
c.12164T>G (p.Leu4055Arg)
c.12083T>G (p.Leu4028Arg)
c.12026T>G (p.Leu4009Arg)
c.10112T>G (p.Leu3371Arg)
c.9290T>G (p.Leu3097Arg)
n.12130T>G
c.12332T>G (p.Leu4111Arg)
c.12260T>G (p.Leu4087Arg)
c.12122T>G (p.Leu4041Arg)
c.10208T>G (p.Leu3403Arg)
 gnomAD v4
16g.2090517A>GCA394326293PKD1c.12212T>C (p.Leu4071Pro)
c.12209T>C (p.Leu4070Pro)
n.240T>C
c.9167T>C (p.Leu3056Pro)
c.12290T>C (p.Leu4097Pro)
c.12287T>C (p.Leu4096Pro)
c.12272T>C (p.Leu4091Pro)
c.12266T>C (p.Leu4089Pro)
c.12263T>C (p.Leu4088Pro)
c.12236T>C (p.Leu4079Pro)
c.12218T>C (p.Leu4073Pro)
c.12164T>C (p.Leu4055Pro)
c.12083T>C (p.Leu4028Pro)
c.12026T>C (p.Leu4009Pro)
c.10112T>C (p.Leu3371Pro)
c.9290T>C (p.Leu3097Pro)
n.12130T>C
c.12332T>C (p.Leu4111Pro)
c.12260T>C (p.Leu4087Pro)
c.12122T>C (p.Leu4041Pro)
c.10208T>C (p.Leu3403Pro)
 dbSNP gnomAD v2 gnomAD v4
16g.2090517A>TCA394326295PKD1c.12212T>A (p.Leu4071His)
c.12209T>A (p.Leu4070His)
n.240T>A
c.9167T>A (p.Leu3056His)
c.12290T>A (p.Leu4097His)
c.12287T>A (p.Leu4096His)
c.12272T>A (p.Leu4091His)
c.12266T>A (p.Leu4089His)
c.12263T>A (p.Leu4088His)
c.12236T>A (p.Leu4079His)
c.12218T>A (p.Leu4073His)
c.12164T>A (p.Leu4055His)
c.12083T>A (p.Leu4028His)
c.12026T>A (p.Leu4009His)
c.10112T>A (p.Leu3371His)
c.9290T>A (p.Leu3097His)
n.12130T>A
c.12332T>A (p.Leu4111His)
c.12260T>A (p.Leu4087His)
c.12122T>A (p.Leu4041His)
c.10208T>A (p.Leu3403His)
 gnomAD v4
16g.2090518G>ACA7828721PKD1c.12211C>T (p.Leu4071Phe)
c.12208C>T (p.Leu4070Phe)
n.239C>T
c.9166C>T (p.Leu3056Phe)
c.12289C>T (p.Leu4097Phe)
c.12286C>T (p.Leu4096Phe)
c.12271C>T (p.Leu4091Phe)
c.12265C>T (p.Leu4089Phe)
c.12262C>T (p.Leu4088Phe)
c.12235C>T (p.Leu4079Phe)
c.12217C>T (p.Leu4073Phe)
c.12163C>T (p.Leu4055Phe)
c.12082C>T (p.Leu4028Phe)
c.12025C>T (p.Leu4009Phe)
c.10111C>T (p.Leu3371Phe)
c.9289C>T (p.Leu3097Phe)
n.12129C>T
c.12331C>T (p.Leu4111Phe)
c.12259C>T (p.Leu4087Phe)
c.12121C>T (p.Leu4041Phe)
c.10207C>T (p.Leu3403Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090518G>CCA276764178PKD1c.12211C>G (p.Leu4071Val)
c.12208C>G (p.Leu4070Val)
n.239C>G
c.9166C>G (p.Leu3056Val)
c.12289C>G (p.Leu4097Val)
c.12286C>G (p.Leu4096Val)
c.12271C>G (p.Leu4091Val)
c.12265C>G (p.Leu4089Val)
c.12262C>G (p.Leu4088Val)
c.12235C>G (p.Leu4079Val)
c.12217C>G (p.Leu4073Val)
c.12163C>G (p.Leu4055Val)
c.12082C>G (p.Leu4028Val)
c.12025C>G (p.Leu4009Val)
c.10111C>G (p.Leu3371Val)
c.9289C>G (p.Leu3097Val)
n.12129C>G
c.12331C>G (p.Leu4111Val)
c.12259C>G (p.Leu4087Val)
c.12121C>G (p.Leu4041Val)
c.10207C>G (p.Leu3403Val)
 dbSNP gnomAD v3 gnomAD v4
16g.2090518G=CA2202041959PKD1c.12211C= (p.Leu4071=)
c.12208C= (p.Leu4070=)
n.239C=
c.9166C= (p.Leu3056=)
c.12289C= (p.Leu4097=)
c.12286C= (p.Leu4096=)
c.12271C= (p.Leu4091=)
c.12265C= (p.Leu4089=)
c.12262C= (p.Leu4088=)
c.12235C= (p.Leu4079=)
c.12217C= (p.Leu4073=)
c.12163C= (p.Leu4055=)
c.12082C= (p.Leu4028=)
c.12025C= (p.Leu4009=)
c.10111C= (p.Leu3371=)
c.9289C= (p.Leu3097=)
n.12129C=
c.12331C= (p.Leu4111=)
c.12259C= (p.Leu4087=)
c.12121C= (p.Leu4041=)
c.10207C= (p.Leu3403=)
16g.2090518G>TCA394326299PKD1c.12211C>A (p.Leu4071Ile)
c.12208C>A (p.Leu4070Ile)
n.239C>A
c.9166C>A (p.Leu3056Ile)
c.12289C>A (p.Leu4097Ile)
c.12286C>A (p.Leu4096Ile)
c.12271C>A (p.Leu4091Ile)
c.12265C>A (p.Leu4089Ile)
c.12262C>A (p.Leu4088Ile)
c.12235C>A (p.Leu4079Ile)
c.12217C>A (p.Leu4073Ile)
c.12163C>A (p.Leu4055Ile)
c.12082C>A (p.Leu4028Ile)
c.12025C>A (p.Leu4009Ile)
c.10111C>A (p.Leu3371Ile)
c.9289C>A (p.Leu3097Ile)
n.12129C>A
c.12331C>A (p.Leu4111Ile)
c.12259C>A (p.Leu4087Ile)
c.12121C>A (p.Leu4041Ile)
c.10207C>A (p.Leu3403Ile)
 gnomAD v4
16g.2090519C>ACA493044251PKD1c.12210G>T (p.Gly4070=)
c.12207G>T (p.Gly4069=)
n.238G>T
c.9165G>T (p.Gly3055=)
c.12288G>T (p.Gly4096=)
c.12285G>T (p.Gly4095=)
c.12270G>T (p.Gly4090=)
c.12264G>T (p.Gly4088=)
c.12261G>T (p.Gly4087=)
c.12234G>T (p.Gly4078=)
c.12216G>T (p.Gly4072=)
c.12162G>T (p.Gly4054=)
c.12081G>T (p.Gly4027=)
c.12024G>T (p.Gly4008=)
c.10110G>T (p.Gly3370=)
c.9288G>T (p.Gly3096=)
n.12128G>T
c.12330G>T (p.Gly4110=)
c.12258G>T (p.Gly4086=)
c.12120G>T (p.Gly4040=)
c.10206G>T (p.Gly3402=)
 dbSNP
16g.2090519C=CA2202041962PKD1c.12210G= (p.Gly4070=)
c.12207G= (p.Gly4069=)
n.238G=
c.9165G= (p.Gly3055=)
c.12288G= (p.Gly4096=)
c.12285G= (p.Gly4095=)
c.12270G= (p.Gly4090=)
c.12264G= (p.Gly4088=)
c.12261G= (p.Gly4087=)
c.12234G= (p.Gly4078=)
c.12216G= (p.Gly4072=)
c.12162G= (p.Gly4054=)
c.12081G= (p.Gly4027=)
c.12024G= (p.Gly4008=)
c.10110G= (p.Gly3370=)
c.9288G= (p.Gly3096=)
n.12128G=
c.12330G= (p.Gly4110=)
c.12258G= (p.Gly4086=)
c.12120G= (p.Gly4040=)
c.10206G= (p.Gly3402=)
16g.2090519C>GCA493044252PKD1c.12210G>C (p.Gly4070=)
c.12207G>C (p.Gly4069=)
n.238G>C
c.9165G>C (p.Gly3055=)
c.12288G>C (p.Gly4096=)
c.12285G>C (p.Gly4095=)
c.12270G>C (p.Gly4090=)
c.12264G>C (p.Gly4088=)
c.12261G>C (p.Gly4087=)
c.12234G>C (p.Gly4078=)
c.12216G>C (p.Gly4072=)
c.12162G>C (p.Gly4054=)
c.12081G>C (p.Gly4027=)
c.12024G>C (p.Gly4008=)
c.10110G>C (p.Gly3370=)
c.9288G>C (p.Gly3096=)
n.12128G>C
c.12330G>C (p.Gly4110=)
c.12258G>C (p.Gly4086=)
c.12120G>C (p.Gly4040=)
c.10206G>C (p.Gly3402=)
16g.2090519C>TCA493044253PKD1c.12210G>A (p.Gly4070=)
c.12207G>A (p.Gly4069=)
n.238G>A
c.9165G>A (p.Gly3055=)
c.12288G>A (p.Gly4096=)
c.12285G>A (p.Gly4095=)
c.12270G>A (p.Gly4090=)
c.12264G>A (p.Gly4088=)
c.12261G>A (p.Gly4087=)
c.12234G>A (p.Gly4078=)
c.12216G>A (p.Gly4072=)
c.12162G>A (p.Gly4054=)
c.12081G>A (p.Gly4027=)
c.12024G>A (p.Gly4008=)
c.10110G>A (p.Gly3370=)
c.9288G>A (p.Gly3096=)
n.12128G>A
c.12330G>A (p.Gly4110=)
c.12258G>A (p.Gly4086=)
c.12120G>A (p.Gly4040=)
c.10206G>A (p.Gly3402=)
 dbSNP gnomAD v2 gnomAD v4
16g.2090520C>ACA394326304PKD1c.12209G>T (p.Gly4070Val)
c.12206G>T (p.Gly4069Val)
n.237G>T
c.9164G>T (p.Gly3055Val)
c.12287G>T (p.Gly4096Val)
c.12284G>T (p.Gly4095Val)
c.12269G>T (p.Gly4090Val)
c.12263G>T (p.Gly4088Val)
c.12260G>T (p.Gly4087Val)
c.12233G>T (p.Gly4078Val)
c.12215G>T (p.Gly4072Val)
c.12161G>T (p.Gly4054Val)
c.12080G>T (p.Gly4027Val)
c.12023G>T (p.Gly4008Val)
c.10109G>T (p.Gly3370Val)
c.9287G>T (p.Gly3096Val)
n.12127G>T
c.12329G>T (p.Gly4110Val)
c.12257G>T (p.Gly4086Val)
c.12119G>T (p.Gly4040Val)
c.10205G>T (p.Gly3402Val)
 COSMIC
16g.2090520C=CA2202041964PKD1c.12209G= (p.Gly4070=)
c.12206G= (p.Gly4069=)
n.237G=
c.9164G= (p.Gly3055=)
c.12287G= (p.Gly4096=)
c.12284G= (p.Gly4095=)
c.12269G= (p.Gly4090=)
c.12263G= (p.Gly4088=)
c.12260G= (p.Gly4087=)
c.12233G= (p.Gly4078=)
c.12215G= (p.Gly4072=)
c.12161G= (p.Gly4054=)
c.12080G= (p.Gly4027=)
c.12023G= (p.Gly4008=)
c.10109G= (p.Gly3370=)
c.9287G= (p.Gly3096=)
n.12127G=
c.12329G= (p.Gly4110=)
c.12257G= (p.Gly4086=)
c.12119G= (p.Gly4040=)
c.10205G= (p.Gly3402=)
16g.2090520C>GCA394326309PKD1c.12209G>C (p.Gly4070Ala)
c.12206G>C (p.Gly4069Ala)
n.237G>C
c.9164G>C (p.Gly3055Ala)
c.12287G>C (p.Gly4096Ala)
c.12284G>C (p.Gly4095Ala)
c.12269G>C (p.Gly4090Ala)
c.12263G>C (p.Gly4088Ala)
c.12260G>C (p.Gly4087Ala)
c.12233G>C (p.Gly4078Ala)
c.12215G>C (p.Gly4072Ala)
c.12161G>C (p.Gly4054Ala)
c.12080G>C (p.Gly4027Ala)
c.12023G>C (p.Gly4008Ala)
c.10109G>C (p.Gly3370Ala)
c.9287G>C (p.Gly3096Ala)
n.12127G>C
c.12329G>C (p.Gly4110Ala)
c.12257G>C (p.Gly4086Ala)
c.12119G>C (p.Gly4040Ala)
c.10205G>C (p.Gly3402Ala)
16g.2090520C>TCA394326311PKD1c.12209G>A (p.Gly4070Glu)
c.12206G>A (p.Gly4069Glu)
n.237G>A
c.9164G>A (p.Gly3055Glu)
c.12287G>A (p.Gly4096Glu)
c.12284G>A (p.Gly4095Glu)
c.12269G>A (p.Gly4090Glu)
c.12263G>A (p.Gly4088Glu)
c.12260G>A (p.Gly4087Glu)
c.12233G>A (p.Gly4078Glu)
c.12215G>A (p.Gly4072Glu)
c.12161G>A (p.Gly4054Glu)
c.12080G>A (p.Gly4027Glu)
c.12023G>A (p.Gly4008Glu)
c.10109G>A (p.Gly3370Glu)
c.9287G>A (p.Gly3096Glu)
n.12127G>A
c.12329G>A (p.Gly4110Glu)
c.12257G>A (p.Gly4086Glu)
c.12119G>A (p.Gly4040Glu)
c.10205G>A (p.Gly3402Glu)
 dbSNP gnomAD v2 gnomAD v4
16g.2090521C>ACA394326316PKD1c.12208G>T (p.Gly4070Trp)
c.12205G>T (p.Gly4069Trp)
n.236G>T
c.9163G>T (p.Gly3055Trp)
c.12286G>T (p.Gly4096Trp)
c.12283G>T (p.Gly4095Trp)
c.12268G>T (p.Gly4090Trp)
c.12262G>T (p.Gly4088Trp)
c.12259G>T (p.Gly4087Trp)
c.12232G>T (p.Gly4078Trp)
c.12214G>T (p.Gly4072Trp)
c.12160G>T (p.Gly4054Trp)
c.12079G>T (p.Gly4027Trp)
c.12022G>T (p.Gly4008Trp)
c.10108G>T (p.Gly3370Trp)
c.9286G>T (p.Gly3096Trp)
n.12126G>T
c.12328G>T (p.Gly4110Trp)
c.12256G>T (p.Gly4086Trp)
c.12118G>T (p.Gly4040Trp)
c.10204G>T (p.Gly3402Trp)
 gnomAD v4
16g.2090521C>GCA394326320PKD1c.12208G>C (p.Gly4070Arg)
c.12205G>C (p.Gly4069Arg)
n.236G>C
c.9163G>C (p.Gly3055Arg)
c.12286G>C (p.Gly4096Arg)
c.12283G>C (p.Gly4095Arg)
c.12268G>C (p.Gly4090Arg)
c.12262G>C (p.Gly4088Arg)
c.12259G>C (p.Gly4087Arg)
c.12232G>C (p.Gly4078Arg)
c.12214G>C (p.Gly4072Arg)
c.12160G>C (p.Gly4054Arg)
c.12079G>C (p.Gly4027Arg)
c.12022G>C (p.Gly4008Arg)
c.10108G>C (p.Gly3370Arg)
c.9286G>C (p.Gly3096Arg)
n.12126G>C
c.12328G>C (p.Gly4110Arg)
c.12256G>C (p.Gly4086Arg)
c.12118G>C (p.Gly4040Arg)
c.10204G>C (p.Gly3402Arg)
 gnomAD v4
16g.2090521C>TCA394326323PKD1c.12208G>A (p.Gly4070Arg)
c.12205G>A (p.Gly4069Arg)
n.236G>A
c.9163G>A (p.Gly3055Arg)
c.12286G>A (p.Gly4096Arg)
c.12283G>A (p.Gly4095Arg)
c.12268G>A (p.Gly4090Arg)
c.12262G>A (p.Gly4088Arg)
c.12259G>A (p.Gly4087Arg)
c.12232G>A (p.Gly4078Arg)
c.12214G>A (p.Gly4072Arg)
c.12160G>A (p.Gly4054Arg)
c.12079G>A (p.Gly4027Arg)
c.12022G>A (p.Gly4008Arg)
c.10108G>A (p.Gly3370Arg)
c.9286G>A (p.Gly3096Arg)
n.12126G>A
c.12328G>A (p.Gly4110Arg)
c.12256G>A (p.Gly4086Arg)
c.12118G>A (p.Gly4040Arg)
c.10204G>A (p.Gly3402Arg)
16g.2090522A>CCA493044257PKD1c.12207T>G (p.Thr4069=)
c.12204T>G (p.Thr4068=)
n.235T>G
c.9162T>G (p.Thr3054=)
c.12285T>G (p.Thr4095=)
c.12282T>G (p.Thr4094=)
c.12267T>G (p.Thr4089=)
c.12261T>G (p.Thr4087=)
c.12258T>G (p.Thr4086=)
c.12231T>G (p.Thr4077=)
c.12213T>G (p.Thr4071=)
c.12159T>G (p.Thr4053=)
c.12078T>G (p.Thr4026=)
c.12021T>G (p.Thr4007=)
c.10107T>G (p.Thr3369=)
c.9285T>G (p.Thr3095=)
n.12125T>G
c.12327T>G (p.Thr4109=)
c.12255T>G (p.Thr4085=)
c.12117T>G (p.Thr4039=)
c.10203T>G (p.Thr3401=)
16g.2090522A>GCA493044259PKD1c.12207T>C (p.Thr4069=)
c.12204T>C (p.Thr4068=)
n.235T>C
c.9162T>C (p.Thr3054=)
c.12285T>C (p.Thr4095=)
c.12282T>C (p.Thr4094=)
c.12267T>C (p.Thr4089=)
c.12261T>C (p.Thr4087=)
c.12258T>C (p.Thr4086=)
c.12231T>C (p.Thr4077=)
c.12213T>C (p.Thr4071=)
c.12159T>C (p.Thr4053=)
c.12078T>C (p.Thr4026=)
c.12021T>C (p.Thr4007=)
c.10107T>C (p.Thr3369=)
c.9285T>C (p.Thr3095=)
n.12125T>C
c.12327T>C (p.Thr4109=)
c.12255T>C (p.Thr4085=)
c.12117T>C (p.Thr4039=)
c.10203T>C (p.Thr3401=)
 gnomAD v4
16g.2090522A>TCA493044260PKD1c.12207T>A (p.Thr4069=)
c.12204T>A (p.Thr4068=)
n.235T>A
c.9162T>A (p.Thr3054=)
c.12285T>A (p.Thr4095=)
c.12282T>A (p.Thr4094=)
c.12267T>A (p.Thr4089=)
c.12261T>A (p.Thr4087=)
c.12258T>A (p.Thr4086=)
c.12231T>A (p.Thr4077=)
c.12213T>A (p.Thr4071=)
c.12159T>A (p.Thr4053=)
c.12078T>A (p.Thr4026=)
c.12021T>A (p.Thr4007=)
c.10107T>A (p.Thr3369=)
c.9285T>A (p.Thr3095=)
n.12125T>A
c.12327T>A (p.Thr4109=)
c.12255T>A (p.Thr4085=)
c.12117T>A (p.Thr4039=)
c.10203T>A (p.Thr3401=)
16g.2090523G>ACA394326326PKD1c.12206C>T (p.Thr4069Ile)
c.12203C>T (p.Thr4068Ile)
n.234C>T
c.9161C>T (p.Thr3054Ile)
c.12284C>T (p.Thr4095Ile)
c.12281C>T (p.Thr4094Ile)
c.12266C>T (p.Thr4089Ile)
c.12260C>T (p.Thr4087Ile)
c.12257C>T (p.Thr4086Ile)
c.12230C>T (p.Thr4077Ile)
c.12212C>T (p.Thr4071Ile)
c.12158C>T (p.Thr4053Ile)
c.12077C>T (p.Thr4026Ile)
c.12020C>T (p.Thr4007Ile)
c.10106C>T (p.Thr3369Ile)
c.9284C>T (p.Thr3095Ile)
n.12124C>T
c.12326C>T (p.Thr4109Ile)
c.12254C>T (p.Thr4085Ile)
c.12116C>T (p.Thr4039Ile)
c.10202C>T (p.Thr3401Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2090523G>CCA394326330PKD1c.12206C>G (p.Thr4069Ser)
c.12203C>G (p.Thr4068Ser)
n.234C>G
c.9161C>G (p.Thr3054Ser)
c.12284C>G (p.Thr4095Ser)
c.12281C>G (p.Thr4094Ser)
c.12266C>G (p.Thr4089Ser)
c.12260C>G (p.Thr4087Ser)
c.12257C>G (p.Thr4086Ser)
c.12230C>G (p.Thr4077Ser)
c.12212C>G (p.Thr4071Ser)
c.12158C>G (p.Thr4053Ser)
c.12077C>G (p.Thr4026Ser)
c.12020C>G (p.Thr4007Ser)
c.10106C>G (p.Thr3369Ser)
c.9284C>G (p.Thr3095Ser)
n.12124C>G
c.12326C>G (p.Thr4109Ser)
c.12254C>G (p.Thr4085Ser)
c.12116C>G (p.Thr4039Ser)
c.10202C>G (p.Thr3401Ser)
 dbSNP
16g.2090523G=CA2202041966PKD1c.12206C= (p.Thr4069=)
c.12203C= (p.Thr4068=)
n.234C=
c.9161C= (p.Thr3054=)
c.12284C= (p.Thr4095=)
c.12281C= (p.Thr4094=)
c.12266C= (p.Thr4089=)
c.12260C= (p.Thr4087=)
c.12257C= (p.Thr4086=)
c.12230C= (p.Thr4077=)
c.12212C= (p.Thr4071=)
c.12158C= (p.Thr4053=)
c.12077C= (p.Thr4026=)
c.12020C= (p.Thr4007=)
c.10106C= (p.Thr3369=)
c.9284C= (p.Thr3095=)
n.12124C=
c.12326C= (p.Thr4109=)
c.12254C= (p.Thr4085=)
c.12116C= (p.Thr4039=)
c.10202C= (p.Thr3401=)
16g.2090523G>TCA394326332PKD1c.12206C>A (p.Thr4069Asn)
c.12203C>A (p.Thr4068Asn)
n.234C>A
c.9161C>A (p.Thr3054Asn)
c.12284C>A (p.Thr4095Asn)
c.12281C>A (p.Thr4094Asn)
c.12266C>A (p.Thr4089Asn)
c.12260C>A (p.Thr4087Asn)
c.12257C>A (p.Thr4086Asn)
c.12230C>A (p.Thr4077Asn)
c.12212C>A (p.Thr4071Asn)
c.12158C>A (p.Thr4053Asn)
c.12077C>A (p.Thr4026Asn)
c.12020C>A (p.Thr4007Asn)
c.10106C>A (p.Thr3369Asn)
c.9284C>A (p.Thr3095Asn)
n.12124C>A
c.12326C>A (p.Thr4109Asn)
c.12254C>A (p.Thr4085Asn)
c.12116C>A (p.Thr4039Asn)
c.10202C>A (p.Thr3401Asn)
16g.2090524T>ACA7828722PKD1c.12205A>T (p.Thr4069Ser)
c.12202A>T (p.Thr4068Ser)
n.233A>T
c.9160A>T (p.Thr3054Ser)
c.12283A>T (p.Thr4095Ser)
c.12280A>T (p.Thr4094Ser)
c.12265A>T (p.Thr4089Ser)
c.12259A>T (p.Thr4087Ser)
c.12256A>T (p.Thr4086Ser)
c.12229A>T (p.Thr4077Ser)
c.12211A>T (p.Thr4071Ser)
c.12157A>T (p.Thr4053Ser)
c.12076A>T (p.Thr4026Ser)
c.12019A>T (p.Thr4007Ser)
c.10105A>T (p.Thr3369Ser)
c.9283A>T (p.Thr3095Ser)
n.12123A>T
c.12325A>T (p.Thr4109Ser)
c.12253A>T (p.Thr4085Ser)
c.12115A>T (p.Thr4039Ser)
c.10201A>T (p.Thr3401Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090524T>CCA394326334PKD1c.12205A>G (p.Thr4069Ala)
c.12202A>G (p.Thr4068Ala)
n.233A>G
c.9160A>G (p.Thr3054Ala)
c.12283A>G (p.Thr4095Ala)
c.12280A>G (p.Thr4094Ala)
c.12265A>G (p.Thr4089Ala)
c.12259A>G (p.Thr4087Ala)
c.12256A>G (p.Thr4086Ala)
c.12229A>G (p.Thr4077Ala)
c.12211A>G (p.Thr4071Ala)
c.12157A>G (p.Thr4053Ala)
c.12076A>G (p.Thr4026Ala)
c.12019A>G (p.Thr4007Ala)
c.10105A>G (p.Thr3369Ala)
c.9283A>G (p.Thr3095Ala)
n.12123A>G
c.12325A>G (p.Thr4109Ala)
c.12253A>G (p.Thr4085Ala)
c.12115A>G (p.Thr4039Ala)
c.10201A>G (p.Thr3401Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2090524T>GCA394326336PKD1c.12205A>C (p.Thr4069Pro)
c.12202A>C (p.Thr4068Pro)
n.233A>C
c.9160A>C (p.Thr3054Pro)
c.12283A>C (p.Thr4095Pro)
c.12280A>C (p.Thr4094Pro)
c.12265A>C (p.Thr4089Pro)
c.12259A>C (p.Thr4087Pro)
c.12256A>C (p.Thr4086Pro)
c.12229A>C (p.Thr4077Pro)
c.12211A>C (p.Thr4071Pro)
c.12157A>C (p.Thr4053Pro)
c.12076A>C (p.Thr4026Pro)
c.12019A>C (p.Thr4007Pro)
c.10105A>C (p.Thr3369Pro)
c.9283A>C (p.Thr3095Pro)
n.12123A>C
c.12325A>C (p.Thr4109Pro)
c.12253A>C (p.Thr4085Pro)
c.12115A>C (p.Thr4039Pro)
c.10201A>C (p.Thr3401Pro)
 dbSNP gnomAD v3 gnomAD v4
16g.2090524T=CA2202041970PKD1c.12205A= (p.Thr4069=)
c.12202A= (p.Thr4068=)
n.233A=
c.9160A= (p.Thr3054=)
c.12283A= (p.Thr4095=)
c.12280A= (p.Thr4094=)
c.12265A= (p.Thr4089=)
c.12259A= (p.Thr4087=)
c.12256A= (p.Thr4086=)
c.12229A= (p.Thr4077=)
c.12211A= (p.Thr4071=)
c.12157A= (p.Thr4053=)
c.12076A= (p.Thr4026=)
c.12019A= (p.Thr4007=)
c.10105A= (p.Thr3369=)
c.9283A= (p.Thr3095=)
n.12123A=
c.12325A= (p.Thr4109=)
c.12253A= (p.Thr4085=)
c.12115A= (p.Thr4039=)
c.10201A= (p.Thr3401=)
16g.2090525C>ACA493044262PKD1c.12204G>T (p.Gly4068=)
c.12201G>T (p.Gly4067=)
n.232G>T
c.9159G>T (p.Gly3053=)
c.12282G>T (p.Gly4094=)
c.12279G>T (p.Gly4093=)
c.12264G>T (p.Gly4088=)
c.12258G>T (p.Gly4086=)
c.12255G>T (p.Gly4085=)
c.12228G>T (p.Gly4076=)
c.12210G>T (p.Gly4070=)
c.12156G>T (p.Gly4052=)
c.12075G>T (p.Gly4025=)
c.12018G>T (p.Gly4006=)
c.10104G>T (p.Gly3368=)
c.9282G>T (p.Gly3094=)
n.12122G>T
c.12324G>T (p.Gly4108=)
c.12252G>T (p.Gly4084=)
c.12114G>T (p.Gly4038=)
c.10200G>T (p.Gly3400=)
16g.2090525C=CA2202041975PKD1c.12204G= (p.Gly4068=)
c.12201G= (p.Gly4067=)
n.232G=
c.9159G= (p.Gly3053=)
c.12282G= (p.Gly4094=)
c.12279G= (p.Gly4093=)
c.12264G= (p.Gly4088=)
c.12258G= (p.Gly4086=)
c.12255G= (p.Gly4085=)
c.12228G= (p.Gly4076=)
c.12210G= (p.Gly4070=)
c.12156G= (p.Gly4052=)
c.12075G= (p.Gly4025=)
c.12018G= (p.Gly4006=)
c.10104G= (p.Gly3368=)
c.9282G= (p.Gly3094=)
n.12122G=
c.12324G= (p.Gly4108=)
c.12252G= (p.Gly4084=)
c.12114G= (p.Gly4038=)
c.10200G= (p.Gly3400=)
16g.2090525C>GCA493044263PKD1c.12204G>C (p.Gly4068=)
c.12201G>C (p.Gly4067=)
n.232G>C
c.9159G>C (p.Gly3053=)
c.12282G>C (p.Gly4094=)
c.12279G>C (p.Gly4093=)
c.12264G>C (p.Gly4088=)
c.12258G>C (p.Gly4086=)
c.12255G>C (p.Gly4085=)
c.12228G>C (p.Gly4076=)
c.12210G>C (p.Gly4070=)
c.12156G>C (p.Gly4052=)
c.12075G>C (p.Gly4025=)
c.12018G>C (p.Gly4006=)
c.10104G>C (p.Gly3368=)
c.9282G>C (p.Gly3094=)
n.12122G>C
c.12324G>C (p.Gly4108=)
c.12252G>C (p.Gly4084=)
c.12114G>C (p.Gly4038=)
c.10200G>C (p.Gly3400=)
 dbSNP
16g.2090525C>TCA7828723PKD1c.12204G>A (p.Gly4068=)
c.12201G>A (p.Gly4067=)
n.232G>A
c.9159G>A (p.Gly3053=)
c.12282G>A (p.Gly4094=)
c.12279G>A (p.Gly4093=)
c.12264G>A (p.Gly4088=)
c.12258G>A (p.Gly4086=)
c.12255G>A (p.Gly4085=)
c.12228G>A (p.Gly4076=)
c.12210G>A (p.Gly4070=)
c.12156G>A (p.Gly4052=)
c.12075G>A (p.Gly4025=)
c.12018G>A (p.Gly4006=)
c.10104G>A (p.Gly3368=)
c.9282G>A (p.Gly3094=)
n.12122G>A
c.12324G>A (p.Gly4108=)
c.12252G>A (p.Gly4084=)
c.12114G>A (p.Gly4038=)
c.10200G>A (p.Gly3400=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090526C>ACA394326346PKD1c.12203G>T (p.Gly4068Val)
c.12200G>T (p.Gly4067Val)
n.231G>T
c.9158G>T (p.Gly3053Val)
c.12281G>T (p.Gly4094Val)
c.12278G>T (p.Gly4093Val)
c.12263G>T (p.Gly4088Val)
c.12257G>T (p.Gly4086Val)
c.12254G>T (p.Gly4085Val)
c.12227G>T (p.Gly4076Val)
c.12209G>T (p.Gly4070Val)
c.12155G>T (p.Gly4052Val)
c.12074G>T (p.Gly4025Val)
c.12017G>T (p.Gly4006Val)
c.10103G>T (p.Gly3368Val)
c.9281G>T (p.Gly3094Val)
n.12121G>T
c.12323G>T (p.Gly4108Val)
c.12251G>T (p.Gly4084Val)
c.12113G>T (p.Gly4038Val)
c.10199G>T (p.Gly3400Val)
16g.2090526C>GCA394326341PKD1c.12203G>C (p.Gly4068Ala)
c.12200G>C (p.Gly4067Ala)
n.231G>C
c.9158G>C (p.Gly3053Ala)
c.12281G>C (p.Gly4094Ala)
c.12278G>C (p.Gly4093Ala)
c.12263G>C (p.Gly4088Ala)
c.12257G>C (p.Gly4086Ala)
c.12254G>C (p.Gly4085Ala)
c.12227G>C (p.Gly4076Ala)
c.12209G>C (p.Gly4070Ala)
c.12155G>C (p.Gly4052Ala)
c.12074G>C (p.Gly4025Ala)
c.12017G>C (p.Gly4006Ala)
c.10103G>C (p.Gly3368Ala)
c.9281G>C (p.Gly3094Ala)
n.12121G>C
c.12323G>C (p.Gly4108Ala)
c.12251G>C (p.Gly4084Ala)
c.12113G>C (p.Gly4038Ala)
c.10199G>C (p.Gly3400Ala)
16g.2090526C>TCA394326344PKD1c.12203G>A (p.Gly4068Glu)
c.12200G>A (p.Gly4067Glu)
n.231G>A
c.9158G>A (p.Gly3053Glu)
c.12281G>A (p.Gly4094Glu)
c.12278G>A (p.Gly4093Glu)
c.12263G>A (p.Gly4088Glu)
c.12257G>A (p.Gly4086Glu)
c.12254G>A (p.Gly4085Glu)
c.12227G>A (p.Gly4076Glu)
c.12209G>A (p.Gly4070Glu)
c.12155G>A (p.Gly4052Glu)
c.12074G>A (p.Gly4025Glu)
c.12017G>A (p.Gly4006Glu)
c.10103G>A (p.Gly3368Glu)
c.9281G>A (p.Gly3094Glu)
n.12121G>A
c.12323G>A (p.Gly4108Glu)
c.12251G>A (p.Gly4084Glu)
c.12113G>A (p.Gly4038Glu)
c.10199G>A (p.Gly3400Glu)
 gnomAD v4
16g.2090527C>ACA394326357PKD1c.12202G>T (p.Gly4068Trp)
c.12199G>T (p.Gly4067Trp)
n.230G>T
c.9157G>T (p.Gly3053Trp)
c.12280G>T (p.Gly4094Trp)
c.12277G>T (p.Gly4093Trp)
c.12262G>T (p.Gly4088Trp)
c.12256G>T (p.Gly4086Trp)
c.12253G>T (p.Gly4085Trp)
c.12226G>T (p.Gly4076Trp)
c.12208G>T (p.Gly4070Trp)
c.12154G>T (p.Gly4052Trp)
c.12073G>T (p.Gly4025Trp)
c.12016G>T (p.Gly4006Trp)
c.10102G>T (p.Gly3368Trp)
c.9280G>T (p.Gly3094Trp)
n.12120G>T
c.12322G>T (p.Gly4108Trp)
c.12250G>T (p.Gly4084Trp)
c.12112G>T (p.Gly4038Trp)
c.10198G>T (p.Gly3400Trp)
 dbSNP gnomAD v3 gnomAD v4
16g.2090527C=CA2202041976PKD1c.12202G= (p.Gly4068=)
c.12199G= (p.Gly4067=)
n.230G=
c.9157G= (p.Gly3053=)
c.12280G= (p.Gly4094=)
c.12277G= (p.Gly4093=)
c.12262G= (p.Gly4088=)
c.12256G= (p.Gly4086=)
c.12253G= (p.Gly4085=)
c.12226G= (p.Gly4076=)
c.12208G= (p.Gly4070=)
c.12154G= (p.Gly4052=)
c.12073G= (p.Gly4025=)
c.12016G= (p.Gly4006=)
c.10102G= (p.Gly3368=)
c.9280G= (p.Gly3094=)
n.12120G=
c.12322G= (p.Gly4108=)
c.12250G= (p.Gly4084=)
c.12112G= (p.Gly4038=)
c.10198G= (p.Gly3400=)
16g.2090527C>GCA7828724PKD1c.12202G>C (p.Gly4068Arg)
c.12199G>C (p.Gly4067Arg)
n.230G>C
c.9157G>C (p.Gly3053Arg)
c.12280G>C (p.Gly4094Arg)
c.12277G>C (p.Gly4093Arg)
c.12262G>C (p.Gly4088Arg)
c.12256G>C (p.Gly4086Arg)
c.12253G>C (p.Gly4085Arg)
c.12226G>C (p.Gly4076Arg)
c.12208G>C (p.Gly4070Arg)
c.12154G>C (p.Gly4052Arg)
c.12073G>C (p.Gly4025Arg)
c.12016G>C (p.Gly4006Arg)
c.10102G>C (p.Gly3368Arg)
c.9280G>C (p.Gly3094Arg)
n.12120G>C
c.12322G>C (p.Gly4108Arg)
c.12250G>C (p.Gly4084Arg)
c.12112G>C (p.Gly4038Arg)
c.10198G>C (p.Gly3400Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2090527C>TCA394326358PKD1c.12202G>A (p.Gly4068Arg)
c.12199G>A (p.Gly4067Arg)
n.230G>A
c.9157G>A (p.Gly3053Arg)
c.12280G>A (p.Gly4094Arg)
c.12277G>A (p.Gly4093Arg)
c.12262G>A (p.Gly4088Arg)
c.12256G>A (p.Gly4086Arg)
c.12253G>A (p.Gly4085Arg)
c.12226G>A (p.Gly4076Arg)
c.12208G>A (p.Gly4070Arg)
c.12154G>A (p.Gly4052Arg)
c.12073G>A (p.Gly4025Arg)
c.12016G>A (p.Gly4006Arg)
c.10102G>A (p.Gly3368Arg)
c.9280G>A (p.Gly3094Arg)
n.12120G>A
c.12322G>A (p.Gly4108Arg)
c.12250G>A (p.Gly4084Arg)
c.12112G>A (p.Gly4038Arg)
c.10198G>A (p.Gly3400Arg)
 gnomAD v4
16g.2090528A>CCA493044269PKD1c.12201T>G (p.Pro4067=)
c.12198T>G (p.Pro4066=)
n.229T>G
c.9156T>G (p.Pro3052=)
c.12279T>G (p.Pro4093=)
c.12276T>G (p.Pro4092=)
c.12261T>G (p.Pro4087=)
c.12255T>G (p.Pro4085=)
c.12252T>G (p.Pro4084=)
c.12225T>G (p.Pro4075=)
c.12207T>G (p.Pro4069=)
c.12153T>G (p.Pro4051=)
c.12072T>G (p.Pro4024=)
c.12015T>G (p.Pro4005=)
c.10101T>G (p.Pro3367=)
c.9279T>G (p.Pro3093=)
n.12119T>G
c.12321T>G (p.Pro4107=)
c.12249T>G (p.Pro4083=)
c.12111T>G (p.Pro4037=)
c.10197T>G (p.Pro3399=)
 gnomAD v4
16g.2090528A>GCA493044268PKD1c.12201T>C (p.Pro4067=)
c.12198T>C (p.Pro4066=)
n.229T>C
c.9156T>C (p.Pro3052=)
c.12279T>C (p.Pro4093=)
c.12276T>C (p.Pro4092=)
c.12261T>C (p.Pro4087=)
c.12255T>C (p.Pro4085=)
c.12252T>C (p.Pro4084=)
c.12225T>C (p.Pro4075=)
c.12207T>C (p.Pro4069=)
c.12153T>C (p.Pro4051=)
c.12072T>C (p.Pro4024=)
c.12015T>C (p.Pro4005=)
c.10101T>C (p.Pro3367=)
c.9279T>C (p.Pro3093=)
n.12119T>C
c.12321T>C (p.Pro4107=)
c.12249T>C (p.Pro4083=)
c.12111T>C (p.Pro4037=)
c.10197T>C (p.Pro3399=)
16g.2090528A>TCA493044267PKD1c.12201T>A (p.Pro4067=)
c.12198T>A (p.Pro4066=)
n.229T>A
c.9156T>A (p.Pro3052=)
c.12279T>A (p.Pro4093=)
c.12276T>A (p.Pro4092=)
c.12261T>A (p.Pro4087=)
c.12255T>A (p.Pro4085=)
c.12252T>A (p.Pro4084=)
c.12225T>A (p.Pro4075=)
c.12207T>A (p.Pro4069=)
c.12153T>A (p.Pro4051=)
c.12072T>A (p.Pro4024=)
c.12015T>A (p.Pro4005=)
c.10101T>A (p.Pro3367=)
c.9279T>A (p.Pro3093=)
n.12119T>A
c.12321T>A (p.Pro4107=)
c.12249T>A (p.Pro4083=)
c.12111T>A (p.Pro4037=)
c.10197T>A (p.Pro3399=)
16g.2090529G>ACA7828725PKD1c.12200C>T (p.Pro4067Leu)
c.12197C>T (p.Pro4066Leu)
n.228C>T
c.9155C>T (p.Pro3052Leu)
c.12278C>T (p.Pro4093Leu)
c.12275C>T (p.Pro4092Leu)
c.12260C>T (p.Pro4087Leu)
c.12254C>T (p.Pro4085Leu)
c.12251C>T (p.Pro4084Leu)
c.12224C>T (p.Pro4075Leu)
c.12206C>T (p.Pro4069Leu)
c.12152C>T (p.Pro4051Leu)
c.12071C>T (p.Pro4024Leu)
c.12014C>T (p.Pro4005Leu)
c.10100C>T (p.Pro3367Leu)
c.9278C>T (p.Pro3093Leu)
n.12118C>T
c.12320C>T (p.Pro4107Leu)
c.12248C>T (p.Pro4083Leu)
c.12110C>T (p.Pro4037Leu)
c.10196C>T (p.Pro3399Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090529G>CCA7828726PKD1c.12200C>G (p.Pro4067Arg)
c.12197C>G (p.Pro4066Arg)
n.228C>G
c.9155C>G (p.Pro3052Arg)
c.12278C>G (p.Pro4093Arg)
c.12275C>G (p.Pro4092Arg)
c.12260C>G (p.Pro4087Arg)
c.12254C>G (p.Pro4085Arg)
c.12251C>G (p.Pro4084Arg)
c.12224C>G (p.Pro4075Arg)
c.12206C>G (p.Pro4069Arg)
c.12152C>G (p.Pro4051Arg)
c.12071C>G (p.Pro4024Arg)
c.12014C>G (p.Pro4005Arg)
c.10100C>G (p.Pro3367Arg)
c.9278C>G (p.Pro3093Arg)
n.12118C>G
c.12320C>G (p.Pro4107Arg)
c.12248C>G (p.Pro4083Arg)
c.12110C>G (p.Pro4037Arg)
c.10196C>G (p.Pro3399Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2090529G=CA2202041980PKD1c.12200C= (p.Pro4067=)
c.12197C= (p.Pro4066=)
n.228C=
c.9155C= (p.Pro3052=)
c.12278C= (p.Pro4093=)
c.12275C= (p.Pro4092=)
c.12260C= (p.Pro4087=)
c.12254C= (p.Pro4085=)
c.12251C= (p.Pro4084=)
c.12224C= (p.Pro4075=)
c.12206C= (p.Pro4069=)
c.12152C= (p.Pro4051=)
c.12071C= (p.Pro4024=)
c.12014C= (p.Pro4005=)
c.10100C= (p.Pro3367=)
c.9278C= (p.Pro3093=)
n.12118C=
c.12320C= (p.Pro4107=)
c.12248C= (p.Pro4083=)
c.12110C= (p.Pro4037=)
c.10196C= (p.Pro3399=)
16g.2090529G>TCA394326369PKD1c.12200C>A (p.Pro4067His)
c.12197C>A (p.Pro4066His)
n.228C>A
c.9155C>A (p.Pro3052His)
c.12278C>A (p.Pro4093His)
c.12275C>A (p.Pro4092His)
c.12260C>A (p.Pro4087His)
c.12254C>A (p.Pro4085His)
c.12251C>A (p.Pro4084His)
c.12224C>A (p.Pro4075His)
c.12206C>A (p.Pro4069His)
c.12152C>A (p.Pro4051His)
c.12071C>A (p.Pro4024His)
c.12014C>A (p.Pro4005His)
c.10100C>A (p.Pro3367His)
c.9278C>A (p.Pro3093His)
n.12118C>A
c.12320C>A (p.Pro4107His)
c.12248C>A (p.Pro4083His)
c.12110C>A (p.Pro4037His)
c.10196C>A (p.Pro3399His)
16g.2090531delCA2695221560PKD1c.12200del (p.Pro4067LeufsTer?)
c.12197del (p.Pro4066LeufsTer?)
n.228del
c.9155del (p.Pro3052LeufsTer?)
c.12278del (p.Pro4093LeufsTer?)
c.12275del (p.Pro4092LeufsTer?)
c.12260del (p.Pro4087LeufsTer?)
c.12254del (p.Pro4085LeufsTer?)
c.12251del (p.Pro4084LeufsTer?)
c.12224del (p.Pro4075LeufsTer?)
c.12206del (p.Pro4069LeufsTer?)
c.12152del (p.Pro4051LeufsTer?)
c.12071del (p.Pro4024LeufsTer?)
c.12014del (p.Pro4005LeufsTer?)
c.10100del (p.Pro3367LeufsTer?)
c.9278del (p.Pro3093LeufsTer?)
n.12118del
c.12320del (p.Pro4107LeufsTer?)
c.12248del (p.Pro4083LeufsTer?)
c.12110del (p.Pro4037LeufsTer?)
c.10196del (p.Pro3399LeufsTer?)
16g.2090530G>ACA7828727PKD1c.12199C>T (p.Pro4067Ser)
c.12196C>T (p.Pro4066Ser)
n.227C>T
c.9154C>T (p.Pro3052Ser)
c.12277C>T (p.Pro4093Ser)
c.12274C>T (p.Pro4092Ser)
c.12259C>T (p.Pro4087Ser)
c.12253C>T (p.Pro4085Ser)
c.12250C>T (p.Pro4084Ser)
c.12223C>T (p.Pro4075Ser)
c.12205C>T (p.Pro4069Ser)
c.12151C>T (p.Pro4051Ser)
c.12070C>T (p.Pro4024Ser)
c.12013C>T (p.Pro4005Ser)
c.10099C>T (p.Pro3367Ser)
c.9277C>T (p.Pro3093Ser)
n.12117C>T
c.12319C>T (p.Pro4107Ser)
c.12247C>T (p.Pro4083Ser)
c.12109C>T (p.Pro4037Ser)
c.10195C>T (p.Pro3399Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2090530G>CCA394326387PKD1c.12199C>G (p.Pro4067Ala)
c.12196C>G (p.Pro4066Ala)
n.227C>G
c.9154C>G (p.Pro3052Ala)
c.12277C>G (p.Pro4093Ala)
c.12274C>G (p.Pro4092Ala)
c.12259C>G (p.Pro4087Ala)
c.12253C>G (p.Pro4085Ala)
c.12250C>G (p.Pro4084Ala)
c.12223C>G (p.Pro4075Ala)
c.12205C>G (p.Pro4069Ala)
c.12151C>G (p.Pro4051Ala)
c.12070C>G (p.Pro4024Ala)
c.12013C>G (p.Pro4005Ala)
c.10099C>G (p.Pro3367Ala)
c.9277C>G (p.Pro3093Ala)
n.12117C>G
c.12319C>G (p.Pro4107Ala)
c.12247C>G (p.Pro4083Ala)
c.12109C>G (p.Pro4037Ala)
c.10195C>G (p.Pro3399Ala)
16g.2090530G=CA2202041983PKD1c.12199C= (p.Pro4067=)
c.12196C= (p.Pro4066=)
n.227C=
c.9154C= (p.Pro3052=)
c.12277C= (p.Pro4093=)
c.12274C= (p.Pro4092=)
c.12259C= (p.Pro4087=)
c.12253C= (p.Pro4085=)
c.12250C= (p.Pro4084=)
c.12223C= (p.Pro4075=)
c.12205C= (p.Pro4069=)
c.12151C= (p.Pro4051=)
c.12070C= (p.Pro4024=)
c.12013C= (p.Pro4005=)
c.10099C= (p.Pro3367=)
c.9277C= (p.Pro3093=)
n.12117C=
c.12319C= (p.Pro4107=)
c.12247C= (p.Pro4083=)
c.12109C= (p.Pro4037=)
c.10195C= (p.Pro3399=)
16g.2090530G>TCA394326390PKD1c.12199C>A (p.Pro4067Thr)
c.12196C>A (p.Pro4066Thr)
n.227C>A
c.9154C>A (p.Pro3052Thr)
c.12277C>A (p.Pro4093Thr)
c.12274C>A (p.Pro4092Thr)
c.12259C>A (p.Pro4087Thr)
c.12253C>A (p.Pro4085Thr)
c.12250C>A (p.Pro4084Thr)
c.12223C>A (p.Pro4075Thr)
c.12205C>A (p.Pro4069Thr)
c.12151C>A (p.Pro4051Thr)
c.12070C>A (p.Pro4024Thr)
c.12013C>A (p.Pro4005Thr)
c.10099C>A (p.Pro3367Thr)
c.9277C>A (p.Pro3093Thr)
n.12117C>A
c.12319C>A (p.Pro4107Thr)
c.12247C>A (p.Pro4083Thr)
c.12109C>A (p.Pro4037Thr)
c.10195C>A (p.Pro3399Thr)
 gnomAD v4
16g.2090531G>ACA7828728PKD1c.12198C>T (p.Cys4066=)
c.12195C>T (p.Cys4065=)
n.226C>T
c.9153C>T (p.Cys3051=)
c.12276C>T (p.Cys4092=)
c.12273C>T (p.Cys4091=)
c.12258C>T (p.Cys4086=)
c.12252C>T (p.Cys4084=)
c.12249C>T (p.Cys4083=)
c.12222C>T (p.Cys4074=)
c.12204C>T (p.Cys4068=)
c.12150C>T (p.Cys4050=)
c.12069C>T (p.Cys4023=)
c.12012C>T (p.Cys4004=)
c.10098C>T (p.Cys3366=)
c.9276C>T (p.Cys3092=)
n.12116C>T
c.12318C>T (p.Cys4106=)
c.12246C>T (p.Cys4082=)
c.12108C>T (p.Cys4036=)
c.10194C>T (p.Cys3398=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090531G>CCA394326398PKD1c.12198C>G (p.Cys4066Trp)
c.12195C>G (p.Cys4065Trp)
n.226C>G
c.9153C>G (p.Cys3051Trp)
c.12276C>G (p.Cys4092Trp)
c.12273C>G (p.Cys4091Trp)
c.12258C>G (p.Cys4086Trp)
c.12252C>G (p.Cys4084Trp)
c.12249C>G (p.Cys4083Trp)
c.12222C>G (p.Cys4074Trp)
c.12204C>G (p.Cys4068Trp)
c.12150C>G (p.Cys4050Trp)
c.12069C>G (p.Cys4023Trp)
c.12012C>G (p.Cys4004Trp)
c.10098C>G (p.Cys3366Trp)
c.9276C>G (p.Cys3092Trp)
n.12116C>G
c.12318C>G (p.Cys4106Trp)
c.12246C>G (p.Cys4082Trp)
c.12108C>G (p.Cys4036Trp)
c.10194C>G (p.Cys3398Trp)
16g.2090531G=CA2202041990PKD1c.12198C= (p.Cys4066=)
c.12195C= (p.Cys4065=)
n.226C=
c.9153C= (p.Cys3051=)
c.12276C= (p.Cys4092=)
c.12273C= (p.Cys4091=)
c.12258C= (p.Cys4086=)
c.12252C= (p.Cys4084=)
c.12249C= (p.Cys4083=)
c.12222C= (p.Cys4074=)
c.12204C= (p.Cys4068=)
c.12150C= (p.Cys4050=)
c.12069C= (p.Cys4023=)
c.12012C= (p.Cys4004=)
c.10098C= (p.Cys3366=)
c.9276C= (p.Cys3092=)
n.12116C=
c.12318C= (p.Cys4106=)
c.12246C= (p.Cys4082=)
c.12108C= (p.Cys4036=)
c.10194C= (p.Cys3398=)
16g.2090531G>TCA394326401PKD1c.12198C>A (p.Cys4066Ter)
c.12195C>A (p.Cys4065Ter)
n.226C>A
c.9153C>A (p.Cys3051Ter)
c.12276C>A (p.Cys4092Ter)
c.12273C>A (p.Cys4091Ter)
c.12258C>A (p.Cys4086Ter)
c.12252C>A (p.Cys4084Ter)
c.12249C>A (p.Cys4083Ter)
c.12222C>A (p.Cys4074Ter)
c.12204C>A (p.Cys4068Ter)
c.12150C>A (p.Cys4050Ter)
c.12069C>A (p.Cys4023Ter)
c.12012C>A (p.Cys4004Ter)
c.10098C>A (p.Cys3366Ter)
c.9276C>A (p.Cys3092Ter)
n.12116C>A
c.12318C>A (p.Cys4106Ter)
c.12246C>A (p.Cys4082Ter)
c.12108C>A (p.Cys4036Ter)
c.10194C>A (p.Cys3398Ter)
 gnomAD v4
16g.2090531_2090532dupCA2695221562PKD1c.12197_12198dup (p.Pro4067AlafsTer?)
c.12194_12195dup (p.Pro4066AlafsTer?)
n.225_226dup
c.9152_9153dup (p.Pro3052AlafsTer?)
c.12275_12276dup (p.Pro4093AlafsTer?)
c.12272_12273dup (p.Pro4092AlafsTer?)
c.12257_12258dup (p.Pro4087AlafsTer?)
c.12251_12252dup (p.Pro4085AlafsTer?)
c.12248_12249dup (p.Pro4084AlafsTer?)
c.12221_12222dup (p.Pro4075AlafsTer?)
c.12203_12204dup (p.Pro4069AlafsTer?)
c.12149_12150dup (p.Pro4051AlafsTer?)
c.12068_12069dup (p.Pro4024AlafsTer?)
c.12011_12012dup (p.Pro4005AlafsTer?)
c.10097_10098dup (p.Pro3367AlafsTer?)
c.9275_9276dup (p.Pro3093AlafsTer?)
n.12115_12116dup
c.12317_12318dup (p.Pro4107AlafsTer?)
c.12245_12246dup (p.Pro4083AlafsTer?)
c.12107_12108dup (p.Pro4037AlafsTer?)
c.10193_10194dup (p.Pro3399AlafsTer?)
16g.2090532C>ACA394326405PKD1c.12197G>T (p.Cys4066Phe)
c.12194G>T (p.Cys4065Phe)
n.225G>T
c.9152G>T (p.Cys3051Phe)
c.12275G>T (p.Cys4092Phe)
c.12272G>T (p.Cys4091Phe)
c.12257G>T (p.Cys4086Phe)
c.12251G>T (p.Cys4084Phe)
c.12248G>T (p.Cys4083Phe)
c.12221G>T (p.Cys4074Phe)
c.12203G>T (p.Cys4068Phe)
c.12149G>T (p.Cys4050Phe)
c.12068G>T (p.Cys4023Phe)
c.12011G>T (p.Cys4004Phe)
c.10097G>T (p.Cys3366Phe)
c.9275G>T (p.Cys3092Phe)
n.12115G>T
c.12317G>T (p.Cys4106Phe)
c.12245G>T (p.Cys4082Phe)
c.12107G>T (p.Cys4036Phe)
c.10193G>T (p.Cys3398Phe)
 dbSNP gnomAD v2 gnomAD v4
16g.2090532C=CA2202041995PKD1c.12197G= (p.Cys4066=)
c.12194G= (p.Cys4065=)
n.225G=
c.9152G= (p.Cys3051=)
c.12275G= (p.Cys4092=)
c.12272G= (p.Cys4091=)
c.12257G= (p.Cys4086=)
c.12251G= (p.Cys4084=)
c.12248G= (p.Cys4083=)
c.12221G= (p.Cys4074=)
c.12203G= (p.Cys4068=)
c.12149G= (p.Cys4050=)
c.12068G= (p.Cys4023=)
c.12011G= (p.Cys4004=)
c.10097G= (p.Cys3366=)
c.9275G= (p.Cys3092=)
n.12115G=
c.12317G= (p.Cys4106=)
c.12245G= (p.Cys4082=)
c.12107G= (p.Cys4036=)
c.10193G= (p.Cys3398=)
16g.2090532C>GCA394326406PKD1c.12197G>C (p.Cys4066Ser)
c.12194G>C (p.Cys4065Ser)
n.225G>C
c.9152G>C (p.Cys3051Ser)
c.12275G>C (p.Cys4092Ser)
c.12272G>C (p.Cys4091Ser)
c.12257G>C (p.Cys4086Ser)
c.12251G>C (p.Cys4084Ser)
c.12248G>C (p.Cys4083Ser)
c.12221G>C (p.Cys4074Ser)
c.12203G>C (p.Cys4068Ser)
c.12149G>C (p.Cys4050Ser)
c.12068G>C (p.Cys4023Ser)
c.12011G>C (p.Cys4004Ser)
c.10097G>C (p.Cys3366Ser)
c.9275G>C (p.Cys3092Ser)
n.12115G>C
c.12317G>C (p.Cys4106Ser)
c.12245G>C (p.Cys4082Ser)
c.12107G>C (p.Cys4036Ser)
c.10193G>C (p.Cys3398Ser)
16g.2090532C>TCA7828729PKD1c.12197G>A (p.Cys4066Tyr)
c.12194G>A (p.Cys4065Tyr)
n.225G>A
c.9152G>A (p.Cys3051Tyr)
c.12275G>A (p.Cys4092Tyr)
c.12272G>A (p.Cys4091Tyr)
c.12257G>A (p.Cys4086Tyr)
c.12251G>A (p.Cys4084Tyr)
c.12248G>A (p.Cys4083Tyr)
c.12221G>A (p.Cys4074Tyr)
c.12203G>A (p.Cys4068Tyr)
c.12149G>A (p.Cys4050Tyr)
c.12068G>A (p.Cys4023Tyr)
c.12011G>A (p.Cys4004Tyr)
c.10097G>A (p.Cys3366Tyr)
c.9275G>A (p.Cys3092Tyr)
n.12115G>A
c.12317G>A (p.Cys4106Tyr)
c.12245G>A (p.Cys4082Tyr)
c.12107G>A (p.Cys4036Tyr)
c.10193G>A (p.Cys3398Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2090533A>CCA394326408PKD1c.12196T>G (p.Cys4066Gly)
c.12193T>G (p.Cys4065Gly)
n.224T>G
c.9151T>G (p.Cys3051Gly)
c.12274T>G (p.Cys4092Gly)
c.12271T>G (p.Cys4091Gly)
c.12256T>G (p.Cys4086Gly)
c.12250T>G (p.Cys4084Gly)
c.12247T>G (p.Cys4083Gly)
c.12220T>G (p.Cys4074Gly)
c.12202T>G (p.Cys4068Gly)
c.12148T>G (p.Cys4050Gly)
c.12067T>G (p.Cys4023Gly)
c.12010T>G (p.Cys4004Gly)
c.10096T>G (p.Cys3366Gly)
c.9274T>G (p.Cys3092Gly)
n.12114T>G
c.12316T>G (p.Cys4106Gly)
c.12244T>G (p.Cys4082Gly)
c.12106T>G (p.Cys4036Gly)
c.10192T>G (p.Cys3398Gly)
16g.2090533A>GCA394326432PKD1c.12196T>C (p.Cys4066Arg)
c.12193T>C (p.Cys4065Arg)
n.224T>C
c.9151T>C (p.Cys3051Arg)
c.12274T>C (p.Cys4092Arg)
c.12271T>C (p.Cys4091Arg)
c.12256T>C (p.Cys4086Arg)
c.12250T>C (p.Cys4084Arg)
c.12247T>C (p.Cys4083Arg)
c.12220T>C (p.Cys4074Arg)
c.12202T>C (p.Cys4068Arg)
c.12148T>C (p.Cys4050Arg)
c.12067T>C (p.Cys4023Arg)
c.12010T>C (p.Cys4004Arg)
c.10096T>C (p.Cys3366Arg)
c.9274T>C (p.Cys3092Arg)
n.12114T>C
c.12316T>C (p.Cys4106Arg)
c.12244T>C (p.Cys4082Arg)
c.12106T>C (p.Cys4036Arg)
c.10192T>C (p.Cys3398Arg)
16g.2090533A>TCA394326410PKD1c.12196T>A (p.Cys4066Ser)
c.12193T>A (p.Cys4065Ser)
n.224T>A
c.9151T>A (p.Cys3051Ser)
c.12274T>A (p.Cys4092Ser)
c.12271T>A (p.Cys4091Ser)
c.12256T>A (p.Cys4086Ser)
c.12250T>A (p.Cys4084Ser)
c.12247T>A (p.Cys4083Ser)
c.12220T>A (p.Cys4074Ser)
c.12202T>A (p.Cys4068Ser)
c.12148T>A (p.Cys4050Ser)
c.12067T>A (p.Cys4023Ser)
c.12010T>A (p.Cys4004Ser)
c.10096T>A (p.Cys3366Ser)
c.9274T>A (p.Cys3092Ser)
n.12114T>A
c.12316T>A (p.Cys4106Ser)
c.12244T>A (p.Cys4082Ser)
c.12106T>A (p.Cys4036Ser)
c.10192T>A (p.Cys3398Ser)
16g.2090534C>ACA493044271PKD1c.12195G>T (p.Leu4065=)
c.12192G>T (p.Leu4064=)
n.223G>T
c.9150G>T (p.Leu3050=)
c.12273G>T (p.Leu4091=)
c.12270G>T (p.Leu4090=)
c.12255G>T (p.Leu4085=)
c.12249G>T (p.Leu4083=)
c.12246G>T (p.Leu4082=)
c.12219G>T (p.Leu4073=)
c.12201G>T (p.Leu4067=)
c.12147G>T (p.Leu4049=)
c.12066G>T (p.Leu4022=)
c.12009G>T (p.Leu4003=)
c.10095G>T (p.Leu3365=)
c.9273G>T (p.Leu3091=)
n.12113G>T
c.12315G>T (p.Leu4105=)
c.12243G>T (p.Leu4081=)
c.12105G>T (p.Leu4035=)
c.10191G>T (p.Leu3397=)
16g.2090534C=CA2202041997PKD1c.12195G= (p.Leu4065=)
c.12192G= (p.Leu4064=)
n.223G=
c.9150G= (p.Leu3050=)
c.12273G= (p.Leu4091=)
c.12270G= (p.Leu4090=)
c.12255G= (p.Leu4085=)
c.12249G= (p.Leu4083=)
c.12246G= (p.Leu4082=)
c.12219G= (p.Leu4073=)
c.12201G= (p.Leu4067=)
c.12147G= (p.Leu4049=)
c.12066G= (p.Leu4022=)
c.12009G= (p.Leu4003=)
c.10095G= (p.Leu3365=)
c.9273G= (p.Leu3091=)
n.12113G=
c.12315G= (p.Leu4105=)
c.12243G= (p.Leu4081=)
c.12105G= (p.Leu4035=)
c.10191G= (p.Leu3397=)
16g.2090534C>GCA493044272PKD1c.12195G>C (p.Leu4065=)
c.12192G>C (p.Leu4064=)
n.223G>C
c.9150G>C (p.Leu3050=)
c.12273G>C (p.Leu4091=)
c.12270G>C (p.Leu4090=)
c.12255G>C (p.Leu4085=)
c.12249G>C (p.Leu4083=)
c.12246G>C (p.Leu4082=)
c.12219G>C (p.Leu4073=)
c.12201G>C (p.Leu4067=)
c.12147G>C (p.Leu4049=)
c.12066G>C (p.Leu4022=)
c.12009G>C (p.Leu4003=)
c.10095G>C (p.Leu3365=)
c.9273G>C (p.Leu3091=)
n.12113G>C
c.12315G>C (p.Leu4105=)
c.12243G>C (p.Leu4081=)
c.12105G>C (p.Leu4035=)
c.10191G>C (p.Leu3397=)
16g.2090534C>TCA7828730PKD1c.12195G>A (p.Leu4065=)
c.12192G>A (p.Leu4064=)
n.223G>A
c.9150G>A (p.Leu3050=)
c.12273G>A (p.Leu4091=)
c.12270G>A (p.Leu4090=)
c.12255G>A (p.Leu4085=)
c.12249G>A (p.Leu4083=)
c.12246G>A (p.Leu4082=)
c.12219G>A (p.Leu4073=)
c.12201G>A (p.Leu4067=)
c.12147G>A (p.Leu4049=)
c.12066G>A (p.Leu4022=)
c.12009G>A (p.Leu4003=)
c.10095G>A (p.Leu3365=)
c.9273G>A (p.Leu3091=)
n.12113G>A
c.12315G>A (p.Leu4105=)
c.12243G>A (p.Leu4081=)
c.12105G>A (p.Leu4035=)
c.10191G>A (p.Leu3397=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090535A>CCA394326435PKD1c.12194T>G (p.Leu4065Arg)
c.12191T>G (p.Leu4064Arg)
n.222T>G
c.9149T>G (p.Leu3050Arg)
c.12272T>G (p.Leu4091Arg)
c.12269T>G (p.Leu4090Arg)
c.12254T>G (p.Leu4085Arg)
c.12248T>G (p.Leu4083Arg)
c.12245T>G (p.Leu4082Arg)
c.12218T>G (p.Leu4073Arg)
c.12200T>G (p.Leu4067Arg)
c.12146T>G (p.Leu4049Arg)
c.12065T>G (p.Leu4022Arg)
c.12008T>G (p.Leu4003Arg)
c.10094T>G (p.Leu3365Arg)
c.9272T>G (p.Leu3091Arg)
n.12112T>G
c.12314T>G (p.Leu4105Arg)
c.12242T>G (p.Leu4081Arg)
c.12104T>G (p.Leu4035Arg)
c.10190T>G (p.Leu3397Arg)
16g.2090535A>GCA394326437PKD1c.12194T>C (p.Leu4065Pro)
c.12191T>C (p.Leu4064Pro)
n.222T>C
c.9149T>C (p.Leu3050Pro)
c.12272T>C (p.Leu4091Pro)
c.12269T>C (p.Leu4090Pro)
c.12254T>C (p.Leu4085Pro)
c.12248T>C (p.Leu4083Pro)
c.12245T>C (p.Leu4082Pro)
c.12218T>C (p.Leu4073Pro)
c.12200T>C (p.Leu4067Pro)
c.12146T>C (p.Leu4049Pro)
c.12065T>C (p.Leu4022Pro)
c.12008T>C (p.Leu4003Pro)
c.10094T>C (p.Leu3365Pro)
c.9272T>C (p.Leu3091Pro)
n.12112T>C
c.12314T>C (p.Leu4105Pro)
c.12242T>C (p.Leu4081Pro)
c.12104T>C (p.Leu4035Pro)
c.10190T>C (p.Leu3397Pro)
 gnomAD v4
16g.2090535A>TCA394326439PKD1c.12194T>A (p.Leu4065Gln)
c.12191T>A (p.Leu4064Gln)
n.222T>A
c.9149T>A (p.Leu3050Gln)
c.12272T>A (p.Leu4091Gln)
c.12269T>A (p.Leu4090Gln)
c.12254T>A (p.Leu4085Gln)
c.12248T>A (p.Leu4083Gln)
c.12245T>A (p.Leu4082Gln)
c.12218T>A (p.Leu4073Gln)
c.12200T>A (p.Leu4067Gln)
c.12146T>A (p.Leu4049Gln)
c.12065T>A (p.Leu4022Gln)
c.12008T>A (p.Leu4003Gln)
c.10094T>A (p.Leu3365Gln)
c.9272T>A (p.Leu3091Gln)
n.12112T>A
c.12314T>A (p.Leu4105Gln)
c.12242T>A (p.Leu4081Gln)
c.12104T>A (p.Leu4035Gln)
c.10190T>A (p.Leu3397Gln)
16g.2090536G>ACA7828731PKD1c.12193C>T (p.Leu4065=)
c.12190C>T (p.Leu4064=)
n.221C>T
c.9148C>T (p.Leu3050=)
c.12271C>T (p.Leu4091=)
c.12268C>T (p.Leu4090=)
c.12253C>T (p.Leu4085=)
c.12247C>T (p.Leu4083=)
c.12244C>T (p.Leu4082=)
c.12217C>T (p.Leu4073=)
c.12199C>T (p.Leu4067=)
c.12145C>T (p.Leu4049=)
c.12064C>T (p.Leu4022=)
c.12007C>T (p.Leu4003=)
c.10093C>T (p.Leu3365=)
c.9271C>T (p.Leu3091=)
n.12111C>T
c.12313C>T (p.Leu4105=)
c.12241C>T (p.Leu4081=)
c.12103C>T (p.Leu4035=)
c.10189C>T (p.Leu3397=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090536G>CCA394326450PKD1c.12193C>G (p.Leu4065Val)
c.12190C>G (p.Leu4064Val)
n.221C>G
c.9148C>G (p.Leu3050Val)
c.12271C>G (p.Leu4091Val)
c.12268C>G (p.Leu4090Val)
c.12253C>G (p.Leu4085Val)
c.12247C>G (p.Leu4083Val)
c.12244C>G (p.Leu4082Val)
c.12217C>G (p.Leu4073Val)
c.12199C>G (p.Leu4067Val)
c.12145C>G (p.Leu4049Val)
c.12064C>G (p.Leu4022Val)
c.12007C>G (p.Leu4003Val)
c.10093C>G (p.Leu3365Val)
c.9271C>G (p.Leu3091Val)
n.12111C>G
c.12313C>G (p.Leu4105Val)
c.12241C>G (p.Leu4081Val)
c.12103C>G (p.Leu4035Val)
c.10189C>G (p.Leu3397Val)
16g.2090536G=CA2202042003PKD1c.12193C= (p.Leu4065=)
c.12190C= (p.Leu4064=)
n.221C=
c.9148C= (p.Leu3050=)
c.12271C= (p.Leu4091=)
c.12268C= (p.Leu4090=)
c.12253C= (p.Leu4085=)
c.12247C= (p.Leu4083=)
c.12244C= (p.Leu4082=)
c.12217C= (p.Leu4073=)
c.12199C= (p.Leu4067=)
c.12145C= (p.Leu4049=)
c.12064C= (p.Leu4022=)
c.12007C= (p.Leu4003=)
c.10093C= (p.Leu3365=)
c.9271C= (p.Leu3091=)
n.12111C=
c.12313C= (p.Leu4105=)
c.12241C= (p.Leu4081=)
c.12103C= (p.Leu4035=)
c.10189C= (p.Leu3397=)
16g.2090536G>TCA394326454PKD1c.12193C>A (p.Leu4065Met)
c.12190C>A (p.Leu4064Met)
n.221C>A
c.9148C>A (p.Leu3050Met)
c.12271C>A (p.Leu4091Met)
c.12268C>A (p.Leu4090Met)
c.12253C>A (p.Leu4085Met)
c.12247C>A (p.Leu4083Met)
c.12244C>A (p.Leu4082Met)
c.12217C>A (p.Leu4073Met)
c.12199C>A (p.Leu4067Met)
c.12145C>A (p.Leu4049Met)
c.12064C>A (p.Leu4022Met)
c.12007C>A (p.Leu4003Met)
c.10093C>A (p.Leu3365Met)
c.9271C>A (p.Leu3091Met)
n.12111C>A
c.12313C>A (p.Leu4105Met)
c.12241C>A (p.Leu4081Met)
c.12103C>A (p.Leu4035Met)
c.10189C>A (p.Leu3397Met)
16g.2090537C>ACA493044276PKD1c.12192G>T (p.Val4064=)
c.12189G>T (p.Val4063=)
n.220G>T
c.9147G>T (p.Val3049=)
c.12270G>T (p.Val4090=)
c.12267G>T (p.Val4089=)
c.12252G>T (p.Val4084=)
c.12246G>T (p.Val4082=)
c.12243G>T (p.Val4081=)
c.12216G>T (p.Val4072=)
c.12198G>T (p.Val4066=)
c.12144G>T (p.Val4048=)
c.12063G>T (p.Val4021=)
c.12006G>T (p.Val4002=)
c.10092G>T (p.Val3364=)
c.9270G>T (p.Val3090=)
n.12110G>T
c.12312G>T (p.Val4104=)
c.12240G>T (p.Val4080=)
c.12102G>T (p.Val4034=)
c.10188G>T (p.Val3396=)
16g.2090537C=CA2202042004PKD1c.12192G= (p.Val4064=)
c.12189G= (p.Val4063=)
n.220G=
c.9147G= (p.Val3049=)
c.12270G= (p.Val4090=)
c.12267G= (p.Val4089=)
c.12252G= (p.Val4084=)
c.12246G= (p.Val4082=)
c.12243G= (p.Val4081=)
c.12216G= (p.Val4072=)
c.12198G= (p.Val4066=)
c.12144G= (p.Val4048=)
c.12063G= (p.Val4021=)
c.12006G= (p.Val4002=)
c.10092G= (p.Val3364=)
c.9270G= (p.Val3090=)
n.12110G=
c.12312G= (p.Val4104=)
c.12240G= (p.Val4080=)
c.12102G= (p.Val4034=)
c.10188G= (p.Val3396=)
16g.2090537C>GCA493044278PKD1c.12192G>C (p.Val4064=)
c.12189G>C (p.Val4063=)
n.220G>C
c.9147G>C (p.Val3049=)
c.12270G>C (p.Val4090=)
c.12267G>C (p.Val4089=)
c.12252G>C (p.Val4084=)
c.12246G>C (p.Val4082=)
c.12243G>C (p.Val4081=)
c.12216G>C (p.Val4072=)
c.12198G>C (p.Val4066=)
c.12144G>C (p.Val4048=)
c.12063G>C (p.Val4021=)
c.12006G>C (p.Val4002=)
c.10092G>C (p.Val3364=)
c.9270G>C (p.Val3090=)
n.12110G>C
c.12312G>C (p.Val4104=)
c.12240G>C (p.Val4080=)
c.12102G>C (p.Val4034=)
c.10188G>C (p.Val3396=)
16g.2090537C>TCA493044279PKD1c.12192G>A (p.Val4064=)
c.12189G>A (p.Val4063=)
n.220G>A
c.9147G>A (p.Val3049=)
c.12270G>A (p.Val4090=)
c.12267G>A (p.Val4089=)
c.12252G>A (p.Val4084=)
c.12246G>A (p.Val4082=)
c.12243G>A (p.Val4081=)
c.12216G>A (p.Val4072=)
c.12198G>A (p.Val4066=)
c.12144G>A (p.Val4048=)
c.12063G>A (p.Val4021=)
c.12006G>A (p.Val4002=)
c.10092G>A (p.Val3364=)
c.9270G>A (p.Val3090=)
n.12110G>A
c.12312G>A (p.Val4104=)
c.12240G>A (p.Val4080=)
c.12102G>A (p.Val4034=)
c.10188G>A (p.Val3396=)
 dbSNP gnomAD v2 gnomAD v4
16g.2090538A=CA2202042006PKD1c.12191T= (p.Val4064=)
c.12188T= (p.Val4063=)
n.219T=
c.9146T= (p.Val3049=)
c.12269T= (p.Val4090=)
c.12266T= (p.Val4089=)
c.12251T= (p.Val4084=)
c.12245T= (p.Val4082=)
c.12242T= (p.Val4081=)
c.12215T= (p.Val4072=)
c.12197T= (p.Val4066=)
c.12143T= (p.Val4048=)
c.12062T= (p.Val4021=)
c.12005T= (p.Val4002=)
c.10091T= (p.Val3364=)
c.9269T= (p.Val3090=)
n.12109T=
c.12311T= (p.Val4104=)
c.12239T= (p.Val4080=)
c.12101T= (p.Val4034=)
c.10187T= (p.Val3396=)
16g.2090538A>CCA394326457PKD1c.12191T>G (p.Val4064Gly)
c.12188T>G (p.Val4063Gly)
n.219T>G
c.9146T>G (p.Val3049Gly)
c.12269T>G (p.Val4090Gly)
c.12266T>G (p.Val4089Gly)
c.12251T>G (p.Val4084Gly)
c.12245T>G (p.Val4082Gly)
c.12242T>G (p.Val4081Gly)
c.12215T>G (p.Val4072Gly)
c.12197T>G (p.Val4066Gly)
c.12143T>G (p.Val4048Gly)
c.12062T>G (p.Val4021Gly)
c.12005T>G (p.Val4002Gly)
c.10091T>G (p.Val3364Gly)
c.9269T>G (p.Val3090Gly)
n.12109T>G
c.12311T>G (p.Val4104Gly)
c.12239T>G (p.Val4080Gly)
c.12101T>G (p.Val4034Gly)
c.10187T>G (p.Val3396Gly)
16g.2090538A>GCA394326463PKD1c.12191T>C (p.Val4064Ala)
c.12188T>C (p.Val4063Ala)
n.219T>C
c.9146T>C (p.Val3049Ala)
c.12269T>C (p.Val4090Ala)
c.12266T>C (p.Val4089Ala)
c.12251T>C (p.Val4084Ala)
c.12245T>C (p.Val4082Ala)
c.12242T>C (p.Val4081Ala)
c.12215T>C (p.Val4072Ala)
c.12197T>C (p.Val4066Ala)
c.12143T>C (p.Val4048Ala)
c.12062T>C (p.Val4021Ala)
c.12005T>C (p.Val4002Ala)
c.10091T>C (p.Val3364Ala)
c.9269T>C (p.Val3090Ala)
n.12109T>C
c.12311T>C (p.Val4104Ala)
c.12239T>C (p.Val4080Ala)
c.12101T>C (p.Val4034Ala)
c.10187T>C (p.Val3396Ala)
 dbSNP gnomAD v2
16g.2090538A>TCA394326468PKD1c.12191T>A (p.Val4064Glu)
c.12188T>A (p.Val4063Glu)
n.219T>A
c.9146T>A (p.Val3049Glu)
c.12269T>A (p.Val4090Glu)
c.12266T>A (p.Val4089Glu)
c.12251T>A (p.Val4084Glu)
c.12245T>A (p.Val4082Glu)
c.12242T>A (p.Val4081Glu)
c.12215T>A (p.Val4072Glu)
c.12197T>A (p.Val4066Glu)
c.12143T>A (p.Val4048Glu)
c.12062T>A (p.Val4021Glu)
c.12005T>A (p.Val4002Glu)
c.10091T>A (p.Val3364Glu)
c.9269T>A (p.Val3090Glu)
n.12109T>A
c.12311T>A (p.Val4104Glu)
c.12239T>A (p.Val4080Glu)
c.12101T>A (p.Val4034Glu)
c.10187T>A (p.Val3396Glu)
16g.2090539C>ACA394326478PKD1c.12190G>T (p.Val4064Leu)
c.12187G>T (p.Val4063Leu)
n.218G>T
c.9145G>T (p.Val3049Leu)
c.12268G>T (p.Val4090Leu)
c.12265G>T (p.Val4089Leu)
c.12250G>T (p.Val4084Leu)
c.12244G>T (p.Val4082Leu)
c.12241G>T (p.Val4081Leu)
c.12214G>T (p.Val4072Leu)
c.12196G>T (p.Val4066Leu)
c.12142G>T (p.Val4048Leu)
c.12061G>T (p.Val4021Leu)
c.12004G>T (p.Val4002Leu)
c.10090G>T (p.Val3364Leu)
c.9268G>T (p.Val3090Leu)
n.12108G>T
c.12310G>T (p.Val4104Leu)
c.12238G>T (p.Val4080Leu)
c.12100G>T (p.Val4034Leu)
c.10186G>T (p.Val3396Leu)
16g.2090539C>GCA394326480PKD1c.12190G>C (p.Val4064Leu)
c.12187G>C (p.Val4063Leu)
n.218G>C
c.9145G>C (p.Val3049Leu)
c.12268G>C (p.Val4090Leu)
c.12265G>C (p.Val4089Leu)
c.12250G>C (p.Val4084Leu)
c.12244G>C (p.Val4082Leu)
c.12241G>C (p.Val4081Leu)
c.12214G>C (p.Val4072Leu)
c.12196G>C (p.Val4066Leu)
c.12142G>C (p.Val4048Leu)
c.12061G>C (p.Val4021Leu)
c.12004G>C (p.Val4002Leu)
c.10090G>C (p.Val3364Leu)
c.9268G>C (p.Val3090Leu)
n.12108G>C
c.12310G>C (p.Val4104Leu)
c.12238G>C (p.Val4080Leu)
c.12100G>C (p.Val4034Leu)
c.10186G>C (p.Val3396Leu)
16g.2090539C>TCA394326483PKD1c.12190G>A (p.Val4064Met)
c.12187G>A (p.Val4063Met)
n.218G>A
c.9145G>A (p.Val3049Met)
c.12268G>A (p.Val4090Met)
c.12265G>A (p.Val4089Met)
c.12250G>A (p.Val4084Met)
c.12244G>A (p.Val4082Met)
c.12241G>A (p.Val4081Met)
c.12214G>A (p.Val4072Met)
c.12196G>A (p.Val4066Met)
c.12142G>A (p.Val4048Met)
c.12061G>A (p.Val4021Met)
c.12004G>A (p.Val4002Met)
c.10090G>A (p.Val3364Met)
c.9268G>A (p.Val3090Met)
n.12108G>A
c.12310G>A (p.Val4104Met)
c.12238G>A (p.Val4080Met)
c.12100G>A (p.Val4034Met)
c.10186G>A (p.Val3396Met)
 COSMIC
16g.2090540C>ACA394326488PKD1c.12189G>T (p.Leu4063Phe)
c.12186G>T (p.Leu4062Phe)
n.217G>T
c.9144G>T (p.Leu3048Phe)
c.12267G>T (p.Leu4089Phe)
c.12264G>T (p.Leu4088Phe)
c.12249G>T (p.Leu4083Phe)
c.12243G>T (p.Leu4081Phe)
c.12240G>T (p.Leu4080Phe)
c.12213G>T (p.Leu4071Phe)
c.12195G>T (p.Leu4065Phe)
c.12141G>T (p.Leu4047Phe)
c.12060G>T (p.Leu4020Phe)
c.12003G>T (p.Leu4001Phe)
c.10089G>T (p.Leu3363Phe)
c.9267G>T (p.Leu3089Phe)
n.12107G>T
c.12309G>T (p.Leu4103Phe)
c.12237G>T (p.Leu4079Phe)
c.12099G>T (p.Leu4033Phe)
c.10185G>T (p.Leu3395Phe)
16g.2090540C=CA2202042010PKD1c.12189G= (p.Leu4063=)
c.12186G= (p.Leu4062=)
n.217G=
c.9144G= (p.Leu3048=)
c.12267G= (p.Leu4089=)
c.12264G= (p.Leu4088=)
c.12249G= (p.Leu4083=)
c.12243G= (p.Leu4081=)
c.12240G= (p.Leu4080=)
c.12213G= (p.Leu4071=)
c.12195G= (p.Leu4065=)
c.12141G= (p.Leu4047=)
c.12060G= (p.Leu4020=)
c.12003G= (p.Leu4001=)
c.10089G= (p.Leu3363=)
c.9267G= (p.Leu3089=)
n.12107G=
c.12309G= (p.Leu4103=)
c.12237G= (p.Leu4079=)
c.12099G= (p.Leu4033=)
c.10185G= (p.Leu3395=)
16g.2090540C>GCA394326491PKD1c.12189G>C (p.Leu4063Phe)
c.12186G>C (p.Leu4062Phe)
n.217G>C
c.9144G>C (p.Leu3048Phe)
c.12267G>C (p.Leu4089Phe)
c.12264G>C (p.Leu4088Phe)
c.12249G>C (p.Leu4083Phe)
c.12243G>C (p.Leu4081Phe)
c.12240G>C (p.Leu4080Phe)
c.12213G>C (p.Leu4071Phe)
c.12195G>C (p.Leu4065Phe)
c.12141G>C (p.Leu4047Phe)
c.12060G>C (p.Leu4020Phe)
c.12003G>C (p.Leu4001Phe)
c.10089G>C (p.Leu3363Phe)
c.9267G>C (p.Leu3089Phe)
n.12107G>C
c.12309G>C (p.Leu4103Phe)
c.12237G>C (p.Leu4079Phe)
c.12099G>C (p.Leu4033Phe)
c.10185G>C (p.Leu3395Phe)
16g.2090540C>TCA493044283PKD1c.12189G>A (p.Leu4063=)
c.12186G>A (p.Leu4062=)
n.217G>A
c.9144G>A (p.Leu3048=)
c.12267G>A (p.Leu4089=)
c.12264G>A (p.Leu4088=)
c.12249G>A (p.Leu4083=)
c.12243G>A (p.Leu4081=)
c.12240G>A (p.Leu4080=)
c.12213G>A (p.Leu4071=)
c.12195G>A (p.Leu4065=)
c.12141G>A (p.Leu4047=)
c.12060G>A (p.Leu4020=)
c.12003G>A (p.Leu4001=)
c.10089G>A (p.Leu3363=)
c.9267G>A (p.Leu3089=)
n.12107G>A
c.12309G>A (p.Leu4103=)
c.12237G>A (p.Leu4079=)
c.12099G>A (p.Leu4033=)
c.10185G>A (p.Leu3395=)
 dbSNP gnomAD v2 gnomAD v4
16g.2090541A>CCA394326494PKD1c.12188T>G (p.Leu4063Trp)
c.12185T>G (p.Leu4062Trp)
n.216T>G
c.9143T>G (p.Leu3048Trp)
c.12266T>G (p.Leu4089Trp)
c.12263T>G (p.Leu4088Trp)
c.12248T>G (p.Leu4083Trp)
c.12242T>G (p.Leu4081Trp)
c.12239T>G (p.Leu4080Trp)
c.12212T>G (p.Leu4071Trp)
c.12194T>G (p.Leu4065Trp)
c.12140T>G (p.Leu4047Trp)
c.12059T>G (p.Leu4020Trp)
c.12002T>G (p.Leu4001Trp)
c.10088T>G (p.Leu3363Trp)
c.9266T>G (p.Leu3089Trp)
n.12106T>G
c.12308T>G (p.Leu4103Trp)
c.12236T>G (p.Leu4079Trp)
c.12098T>G (p.Leu4033Trp)
c.10184T>G (p.Leu3395Trp)
16g.2090541A>GCA394326503PKD1c.12188T>C (p.Leu4063Ser)
c.12185T>C (p.Leu4062Ser)
n.216T>C
c.9143T>C (p.Leu3048Ser)
c.12266T>C (p.Leu4089Ser)
c.12263T>C (p.Leu4088Ser)
c.12248T>C (p.Leu4083Ser)
c.12242T>C (p.Leu4081Ser)
c.12239T>C (p.Leu4080Ser)
c.12212T>C (p.Leu4071Ser)
c.12194T>C (p.Leu4065Ser)
c.12140T>C (p.Leu4047Ser)
c.12059T>C (p.Leu4020Ser)
c.12002T>C (p.Leu4001Ser)
c.10088T>C (p.Leu3363Ser)
c.9266T>C (p.Leu3089Ser)
n.12106T>C
c.12308T>C (p.Leu4103Ser)
c.12236T>C (p.Leu4079Ser)
c.12098T>C (p.Leu4033Ser)
c.10184T>C (p.Leu3395Ser)
16g.2090541A>TCA394326510PKD1c.12188T>A (p.Leu4063Ter)
c.12185T>A (p.Leu4062Ter)
n.216T>A
c.9143T>A (p.Leu3048Ter)
c.12266T>A (p.Leu4089Ter)
c.12263T>A (p.Leu4088Ter)
c.12248T>A (p.Leu4083Ter)
c.12242T>A (p.Leu4081Ter)
c.12239T>A (p.Leu4080Ter)
c.12212T>A (p.Leu4071Ter)
c.12194T>A (p.Leu4065Ter)
c.12140T>A (p.Leu4047Ter)
c.12059T>A (p.Leu4020Ter)
c.12002T>A (p.Leu4001Ter)
c.10088T>A (p.Leu3363Ter)
c.9266T>A (p.Leu3089Ter)
n.12106T>A
c.12308T>A (p.Leu4103Ter)
c.12236T>A (p.Leu4079Ter)
c.12098T>A (p.Leu4033Ter)
c.10184T>A (p.Leu3395Ter)
16g.2090542A=CA2202042014PKD1c.12187T= (p.Leu4063=)
c.12184T= (p.Leu4062=)
n.215T=
c.9142T= (p.Leu3048=)
c.12265T= (p.Leu4089=)
c.12262T= (p.Leu4088=)
c.12247T= (p.Leu4083=)
c.12241T= (p.Leu4081=)
c.12238T= (p.Leu4080=)
c.12211T= (p.Leu4071=)
c.12193T= (p.Leu4065=)
c.12139T= (p.Leu4047=)
c.12058T= (p.Leu4020=)
c.12001T= (p.Leu4001=)
c.10087T= (p.Leu3363=)
c.9265T= (p.Leu3089=)
n.12105T=
c.12307T= (p.Leu4103=)
c.12235T= (p.Leu4079=)
c.12097T= (p.Leu4033=)
c.10183T= (p.Leu3395=)
16g.2090542A>CCA394326513PKD1c.12187T>G (p.Leu4063Val)
c.12184T>G (p.Leu4062Val)
n.215T>G
c.9142T>G (p.Leu3048Val)
c.12265T>G (p.Leu4089Val)
c.12262T>G (p.Leu4088Val)
c.12247T>G (p.Leu4083Val)
c.12241T>G (p.Leu4081Val)
c.12238T>G (p.Leu4080Val)
c.12211T>G (p.Leu4071Val)
c.12193T>G (p.Leu4065Val)
c.12139T>G (p.Leu4047Val)
c.12058T>G (p.Leu4020Val)
c.12001T>G (p.Leu4001Val)
c.10087T>G (p.Leu3363Val)
c.9265T>G (p.Leu3089Val)
n.12105T>G
c.12307T>G (p.Leu4103Val)
c.12235T>G (p.Leu4079Val)
c.12097T>G (p.Leu4033Val)
c.10183T>G (p.Leu3395Val)
16g.2090542A>GCA7828732PKD1c.12187T>C (p.Leu4063=)
c.12184T>C (p.Leu4062=)
n.215T>C
c.9142T>C (p.Leu3048=)
c.12265T>C (p.Leu4089=)
c.12262T>C (p.Leu4088=)
c.12247T>C (p.Leu4083=)
c.12241T>C (p.Leu4081=)
c.12238T>C (p.Leu4080=)
c.12211T>C (p.Leu4071=)
c.12193T>C (p.Leu4065=)
c.12139T>C (p.Leu4047=)
c.12058T>C (p.Leu4020=)
c.12001T>C (p.Leu4001=)
c.10087T>C (p.Leu3363=)
c.9265T>C (p.Leu3089=)
n.12105T>C
c.12307T>C (p.Leu4103=)
c.12235T>C (p.Leu4079=)
c.12097T>C (p.Leu4033=)
c.10183T>C (p.Leu3395=)
 dbSNP ExAC gnomAD v2
16g.2090542A>TCA394326514PKD1c.12187T>A (p.Leu4063Met)
c.12184T>A (p.Leu4062Met)
n.215T>A
c.9142T>A (p.Leu3048Met)
c.12265T>A (p.Leu4089Met)
c.12262T>A (p.Leu4088Met)
c.12247T>A (p.Leu4083Met)
c.12241T>A (p.Leu4081Met)
c.12238T>A (p.Leu4080Met)
c.12211T>A (p.Leu4071Met)
c.12193T>A (p.Leu4065Met)
c.12139T>A (p.Leu4047Met)
c.12058T>A (p.Leu4020Met)
c.12001T>A (p.Leu4001Met)
c.10087T>A (p.Leu3363Met)
c.9265T>A (p.Leu3089Met)
n.12105T>A
c.12307T>A (p.Leu4103Met)
c.12235T>A (p.Leu4079Met)
c.12097T>A (p.Leu4033Met)
c.10183T>A (p.Leu3395Met)
 gnomAD v4
16g.2090543C>ACA493044287PKD1c.12186G>T (p.Leu4062=)
c.12183G>T (p.Leu4061=)
n.214G>T
c.9141G>T (p.Leu3047=)
c.12264G>T (p.Leu4088=)
c.12261G>T (p.Leu4087=)
c.12246G>T (p.Leu4082=)
c.12240G>T (p.Leu4080=)
c.12237G>T (p.Leu4079=)
c.12210G>T (p.Leu4070=)
c.12192G>T (p.Leu4064=)
c.12138G>T (p.Leu4046=)
c.12057G>T (p.Leu4019=)
c.12000G>T (p.Leu4000=)
c.10086G>T (p.Leu3362=)
c.9264G>T (p.Leu3088=)
n.12104G>T
c.12306G>T (p.Leu4102=)
c.12234G>T (p.Leu4078=)
c.12096G>T (p.Leu4032=)
c.10182G>T (p.Leu3394=)
16g.2090543C>GCA493044288PKD1c.12186G>C (p.Leu4062=)
c.12183G>C (p.Leu4061=)
n.214G>C
c.9141G>C (p.Leu3047=)
c.12264G>C (p.Leu4088=)
c.12261G>C (p.Leu4087=)
c.12246G>C (p.Leu4082=)
c.12240G>C (p.Leu4080=)
c.12237G>C (p.Leu4079=)
c.12210G>C (p.Leu4070=)
c.12192G>C (p.Leu4064=)
c.12138G>C (p.Leu4046=)
c.12057G>C (p.Leu4019=)
c.12000G>C (p.Leu4000=)
c.10086G>C (p.Leu3362=)
c.9264G>C (p.Leu3088=)
n.12104G>C
c.12306G>C (p.Leu4102=)
c.12234G>C (p.Leu4078=)
c.12096G>C (p.Leu4032=)
c.10182G>C (p.Leu3394=)
16g.2090543C>TCA493044289PKD1c.12186G>A (p.Leu4062=)
c.12183G>A (p.Leu4061=)
n.214G>A
c.9141G>A (p.Leu3047=)
c.12264G>A (p.Leu4088=)
c.12261G>A (p.Leu4087=)
c.12246G>A (p.Leu4082=)
c.12240G>A (p.Leu4080=)
c.12237G>A (p.Leu4079=)
c.12210G>A (p.Leu4070=)
c.12192G>A (p.Leu4064=)
c.12138G>A (p.Leu4046=)
c.12057G>A (p.Leu4019=)
c.12000G>A (p.Leu4000=)
c.10086G>A (p.Leu3362=)
c.9264G>A (p.Leu3088=)
n.12104G>A
c.12306G>A (p.Leu4102=)
c.12234G>A (p.Leu4078=)
c.12096G>A (p.Leu4032=)
c.10182G>A (p.Leu3394=)
 gnomAD v4
16g.2090544A>CCA394326516PKD1c.12185T>G (p.Leu4062Arg)
c.12182T>G (p.Leu4061Arg)
n.213T>G
c.9140T>G (p.Leu3047Arg)
c.12263T>G (p.Leu4088Arg)
c.12260T>G (p.Leu4087Arg)
c.12245T>G (p.Leu4082Arg)
c.12239T>G (p.Leu4080Arg)
c.12236T>G (p.Leu4079Arg)
c.12209T>G (p.Leu4070Arg)
c.12191T>G (p.Leu4064Arg)
c.12137T>G (p.Leu4046Arg)
c.12056T>G (p.Leu4019Arg)
c.11999T>G (p.Leu4000Arg)
c.10085T>G (p.Leu3362Arg)
c.9263T>G (p.Leu3088Arg)
n.12103T>G
c.12305T>G (p.Leu4102Arg)
c.12233T>G (p.Leu4078Arg)
c.12095T>G (p.Leu4032Arg)
c.10181T>G (p.Leu3394Arg)
16g.2090544A>GCA394326519PKD1c.12185T>C (p.Leu4062Pro)
c.12182T>C (p.Leu4061Pro)
n.213T>C
c.9140T>C (p.Leu3047Pro)
c.12263T>C (p.Leu4088Pro)
c.12260T>C (p.Leu4087Pro)
c.12245T>C (p.Leu4082Pro)
c.12239T>C (p.Leu4080Pro)
c.12236T>C (p.Leu4079Pro)
c.12209T>C (p.Leu4070Pro)
c.12191T>C (p.Leu4064Pro)
c.12137T>C (p.Leu4046Pro)
c.12056T>C (p.Leu4019Pro)
c.11999T>C (p.Leu4000Pro)
c.10085T>C (p.Leu3362Pro)
c.9263T>C (p.Leu3088Pro)
n.12103T>C
c.12305T>C (p.Leu4102Pro)
c.12233T>C (p.Leu4078Pro)
c.12095T>C (p.Leu4032Pro)
c.10181T>C (p.Leu3394Pro)
16g.2090544A>TCA394326521PKD1c.12185T>A (p.Leu4062Gln)
c.12182T>A (p.Leu4061Gln)
n.213T>A
c.9140T>A (p.Leu3047Gln)
c.12263T>A (p.Leu4088Gln)
c.12260T>A (p.Leu4087Gln)
c.12245T>A (p.Leu4082Gln)
c.12239T>A (p.Leu4080Gln)
c.12236T>A (p.Leu4079Gln)
c.12209T>A (p.Leu4070Gln)
c.12191T>A (p.Leu4064Gln)
c.12137T>A (p.Leu4046Gln)
c.12056T>A (p.Leu4019Gln)
c.11999T>A (p.Leu4000Gln)
c.10085T>A (p.Leu3362Gln)
c.9263T>A (p.Leu3088Gln)
n.12103T>A
c.12305T>A (p.Leu4102Gln)
c.12233T>A (p.Leu4078Gln)
c.12095T>A (p.Leu4032Gln)
c.10181T>A (p.Leu3394Gln)
16g.2090545G>ACA493044292PKD1c.12184C>T (p.Leu4062=)
c.12181C>T (p.Leu4061=)
n.212C>T
c.9139C>T (p.Leu3047=)
c.12262C>T (p.Leu4088=)
c.12259C>T (p.Leu4087=)
c.12244C>T (p.Leu4082=)
c.12238C>T (p.Leu4080=)
c.12235C>T (p.Leu4079=)
c.12208C>T (p.Leu4070=)
c.12190C>T (p.Leu4064=)
c.12136C>T (p.Leu4046=)
c.12055C>T (p.Leu4019=)
c.11998C>T (p.Leu4000=)
c.10084C>T (p.Leu3362=)
c.9262C>T (p.Leu3088=)
n.12102C>T
c.12304C>T (p.Leu4102=)
c.12232C>T (p.Leu4078=)
c.12094C>T (p.Leu4032=)
c.10180C>T (p.Leu3394=)
 dbSNP gnomAD v2 gnomAD v4
16g.2090545G>CCA276764183PKD1c.12184C>G (p.Leu4062Val)
c.12181C>G (p.Leu4061Val)
n.212C>G
c.9139C>G (p.Leu3047Val)
c.12262C>G (p.Leu4088Val)
c.12259C>G (p.Leu4087Val)
c.12244C>G (p.Leu4082Val)
c.12238C>G (p.Leu4080Val)
c.12235C>G (p.Leu4079Val)
c.12208C>G (p.Leu4070Val)
c.12190C>G (p.Leu4064Val)
c.12136C>G (p.Leu4046Val)
c.12055C>G (p.Leu4019Val)
c.11998C>G (p.Leu4000Val)
c.10084C>G (p.Leu3362Val)
c.9262C>G (p.Leu3088Val)
n.12102C>G
c.12304C>G (p.Leu4102Val)
c.12232C>G (p.Leu4078Val)
c.12094C>G (p.Leu4032Val)
c.10180C>G (p.Leu3394Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2090545G=CA2202042017PKD1c.12184C= (p.Leu4062=)
c.12181C= (p.Leu4061=)
n.212C=
c.9139C= (p.Leu3047=)
c.12262C= (p.Leu4088=)
c.12259C= (p.Leu4087=)
c.12244C= (p.Leu4082=)
c.12238C= (p.Leu4080=)
c.12235C= (p.Leu4079=)
c.12208C= (p.Leu4070=)
c.12190C= (p.Leu4064=)
c.12136C= (p.Leu4046=)
c.12055C= (p.Leu4019=)
c.11998C= (p.Leu4000=)
c.10084C= (p.Leu3362=)
c.9262C= (p.Leu3088=)
n.12102C=
c.12304C= (p.Leu4102=)
c.12232C= (p.Leu4078=)
c.12094C= (p.Leu4032=)
c.10180C= (p.Leu3394=)
16g.2090545G>TCA394326524PKD1c.12184C>A (p.Leu4062Met)
c.12181C>A (p.Leu4061Met)
n.212C>A
c.9139C>A (p.Leu3047Met)
c.12262C>A (p.Leu4088Met)
c.12259C>A (p.Leu4087Met)
c.12244C>A (p.Leu4082Met)
c.12238C>A (p.Leu4080Met)
c.12235C>A (p.Leu4079Met)
c.12208C>A (p.Leu4070Met)
c.12190C>A (p.Leu4064Met)
c.12136C>A (p.Leu4046Met)
c.12055C>A (p.Leu4019Met)
c.11998C>A (p.Leu4000Met)
c.10084C>A (p.Leu3362Met)
c.9262C>A (p.Leu3088Met)
n.12102C>A
c.12304C>A (p.Leu4102Met)
c.12232C>A (p.Leu4078Met)
c.12094C>A (p.Leu4032Met)
c.10180C>A (p.Leu3394Met)
 gnomAD v4
16g.2090546G>ACA493044296PKD1c.12183C>T (p.Ala4061=)
c.12180C>T (p.Ala4060=)
n.211C>T
c.9138C>T (p.Ala3046=)
c.12261C>T (p.Ala4087=)
c.12258C>T (p.Ala4086=)
c.12243C>T (p.Ala4081=)
c.12237C>T (p.Ala4079=)
c.12234C>T (p.Ala4078=)
c.12207C>T (p.Ala4069=)
c.12189C>T (p.Ala4063=)
c.12135C>T (p.Ala4045=)
c.12054C>T (p.Ala4018=)
c.11997C>T (p.Ala3999=)
c.10083C>T (p.Ala3361=)
c.9261C>T (p.Ala3087=)
n.12101C>T
c.12303C>T (p.Ala4101=)
c.12231C>T (p.Ala4077=)
c.12093C>T (p.Ala4031=)
c.10179C>T (p.Ala3393=)
 gnomAD v4
16g.2090546G>CCA493044297PKD1c.12183C>G (p.Ala4061=)
c.12180C>G (p.Ala4060=)
n.211C>G
c.9138C>G (p.Ala3046=)
c.12261C>G (p.Ala4087=)
c.12258C>G (p.Ala4086=)
c.12243C>G (p.Ala4081=)
c.12237C>G (p.Ala4079=)
c.12234C>G (p.Ala4078=)
c.12207C>G (p.Ala4069=)
c.12189C>G (p.Ala4063=)
c.12135C>G (p.Ala4045=)
c.12054C>G (p.Ala4018=)
c.11997C>G (p.Ala3999=)
c.10083C>G (p.Ala3361=)
c.9261C>G (p.Ala3087=)
n.12101C>G
c.12303C>G (p.Ala4101=)
c.12231C>G (p.Ala4077=)
c.12093C>G (p.Ala4031=)
c.10179C>G (p.Ala3393=)
 gnomAD v4
16g.2090546G>TCA493044299PKD1c.12183C>A (p.Ala4061=)
c.12180C>A (p.Ala4060=)
n.211C>A
c.9138C>A (p.Ala3046=)
c.12261C>A (p.Ala4087=)
c.12258C>A (p.Ala4086=)
c.12243C>A (p.Ala4081=)
c.12237C>A (p.Ala4079=)
c.12234C>A (p.Ala4078=)
c.12207C>A (p.Ala4069=)
c.12189C>A (p.Ala4063=)
c.12135C>A (p.Ala4045=)
c.12054C>A (p.Ala4018=)
c.11997C>A (p.Ala3999=)
c.10083C>A (p.Ala3361=)
c.9261C>A (p.Ala3087=)
n.12101C>A
c.12303C>A (p.Ala4101=)
c.12231C>A (p.Ala4077=)
c.12093C>A (p.Ala4031=)
c.10179C>A (p.Ala3393=)
 gnomAD v4
16g.2090547G>ACA7828733PKD1c.12182C>T (p.Ala4061Val)
c.12179C>T (p.Ala4060Val)
n.210C>T
c.9137C>T (p.Ala3046Val)
c.12260C>T (p.Ala4087Val)
c.12257C>T (p.Ala4086Val)
c.12242C>T (p.Ala4081Val)
c.12236C>T (p.Ala4079Val)
c.12233C>T (p.Ala4078Val)
c.12206C>T (p.Ala4069Val)
c.12188C>T (p.Ala4063Val)
c.12134C>T (p.Ala4045Val)
c.12053C>T (p.Ala4018Val)
c.11996C>T (p.Ala3999Val)
c.10082C>T (p.Ala3361Val)
c.9260C>T (p.Ala3087Val)
n.12100C>T
c.12302C>T (p.Ala4101Val)
c.12230C>T (p.Ala4077Val)
c.12092C>T (p.Ala4031Val)
c.10178C>T (p.Ala3393Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2090547G>CCA7828734PKD1c.12182C>G (p.Ala4061Gly)
c.12179C>G (p.Ala4060Gly)
n.210C>G
c.9137C>G (p.Ala3046Gly)
c.12260C>G (p.Ala4087Gly)
c.12257C>G (p.Ala4086Gly)
c.12242C>G (p.Ala4081Gly)
c.12236C>G (p.Ala4079Gly)
c.12233C>G (p.Ala4078Gly)
c.12206C>G (p.Ala4069Gly)
c.12188C>G (p.Ala4063Gly)
c.12134C>G (p.Ala4045Gly)
c.12053C>G (p.Ala4018Gly)
c.11996C>G (p.Ala3999Gly)
c.10082C>G (p.Ala3361Gly)
c.9260C>G (p.Ala3087Gly)
n.12100C>G
c.12302C>G (p.Ala4101Gly)
c.12230C>G (p.Ala4077Gly)
c.12092C>G (p.Ala4031Gly)
c.10178C>G (p.Ala3393Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2090547G=CA2202042020PKD1c.12182C= (p.Ala4061=)
c.12179C= (p.Ala4060=)
n.210C=
c.9137C= (p.Ala3046=)
c.12260C= (p.Ala4087=)
c.12257C= (p.Ala4086=)
c.12242C= (p.Ala4081=)
c.12236C= (p.Ala4079=)
c.12233C= (p.Ala4078=)
c.12206C= (p.Ala4069=)
c.12188C= (p.Ala4063=)
c.12134C= (p.Ala4045=)
c.12053C= (p.Ala4018=)
c.11996C= (p.Ala3999=)
c.10082C= (p.Ala3361=)
c.9260C= (p.Ala3087=)
n.12100C=
c.12302C= (p.Ala4101=)
c.12230C= (p.Ala4077=)
c.12092C= (p.Ala4031=)
c.10178C= (p.Ala3393=)
16g.2090547G>TCA394326527PKD1c.12182C>A (p.Ala4061Asp)
c.12179C>A (p.Ala4060Asp)
n.210C>A
c.9137C>A (p.Ala3046Asp)
c.12260C>A (p.Ala4087Asp)
c.12257C>A (p.Ala4086Asp)
c.12242C>A (p.Ala4081Asp)
c.12236C>A (p.Ala4079Asp)
c.12233C>A (p.Ala4078Asp)
c.12206C>A (p.Ala4069Asp)
c.12188C>A (p.Ala4063Asp)
c.12134C>A (p.Ala4045Asp)
c.12053C>A (p.Ala4018Asp)
c.11996C>A (p.Ala3999Asp)
c.10082C>A (p.Ala3361Asp)
c.9260C>A (p.Ala3087Asp)
n.12100C>A
c.12302C>A (p.Ala4101Asp)
c.12230C>A (p.Ala4077Asp)
c.12092C>A (p.Ala4031Asp)
c.10178C>A (p.Ala3393Asp)
 gnomAD v4
16g.2090548C>ACA394326537PKD1c.12181G>T (p.Ala4061Ser)
c.12178G>T (p.Ala4060Ser)
n.209G>T
c.9136G>T (p.Ala3046Ser)
c.12259G>T (p.Ala4087Ser)
c.12256G>T (p.Ala4086Ser)
c.12241G>T (p.Ala4081Ser)
c.12235G>T (p.Ala4079Ser)
c.12232G>T (p.Ala4078Ser)
c.12205G>T (p.Ala4069Ser)
c.12187G>T (p.Ala4063Ser)
c.12133G>T (p.Ala4045Ser)
c.12052G>T (p.Ala4018Ser)
c.11995G>T (p.Ala3999Ser)
c.10081G>T (p.Ala3361Ser)
c.9259G>T (p.Ala3087Ser)
n.12099G>T
c.12301G>T (p.Ala4101Ser)
c.12229G>T (p.Ala4077Ser)
c.12091G>T (p.Ala4031Ser)
c.10177G>T (p.Ala3393Ser)
16g.2090548C>GCA394326540PKD1c.12181G>C (p.Ala4061Pro)
c.12178G>C (p.Ala4060Pro)
n.209G>C
c.9136G>C (p.Ala3046Pro)
c.12259G>C (p.Ala4087Pro)
c.12256G>C (p.Ala4086Pro)
c.12241G>C (p.Ala4081Pro)
c.12235G>C (p.Ala4079Pro)
c.12232G>C (p.Ala4078Pro)
c.12205G>C (p.Ala4069Pro)
c.12187G>C (p.Ala4063Pro)
c.12133G>C (p.Ala4045Pro)
c.12052G>C (p.Ala4018Pro)
c.11995G>C (p.Ala3999Pro)
c.10081G>C (p.Ala3361Pro)
c.9259G>C (p.Ala3087Pro)
n.12099G>C
c.12301G>C (p.Ala4101Pro)
c.12229G>C (p.Ala4077Pro)
c.12091G>C (p.Ala4031Pro)
c.10177G>C (p.Ala3393Pro)
16g.2090548C>TCA394326544PKD1c.12181G>A (p.Ala4061Thr)
c.12178G>A (p.Ala4060Thr)
n.209G>A
c.9136G>A (p.Ala3046Thr)
c.12259G>A (p.Ala4087Thr)
c.12256G>A (p.Ala4086Thr)
c.12241G>A (p.Ala4081Thr)
c.12235G>A (p.Ala4079Thr)
c.12232G>A (p.Ala4078Thr)
c.12205G>A (p.Ala4069Thr)
c.12187G>A (p.Ala4063Thr)
c.12133G>A (p.Ala4045Thr)
c.12052G>A (p.Ala4018Thr)
c.11995G>A (p.Ala3999Thr)
c.10081G>A (p.Ala3361Thr)
c.9259G>A (p.Ala3087Thr)
n.12099G>A
c.12301G>A (p.Ala4101Thr)
c.12229G>A (p.Ala4077Thr)
c.12091G>A (p.Ala4031Thr)
c.10177G>A (p.Ala3393Thr)
16g.2090549C>ACA394326547PKD1c.12180G>T (p.Gln4060His)
c.12177G>T (p.Gln4059His)
n.208G>T
c.9135G>T (p.Gln3045His)
c.12258G>T (p.Gln4086His)
c.12255G>T (p.Gln4085His)
c.12240G>T (p.Gln4080His)
c.12234G>T (p.Gln4078His)
c.12231G>T (p.Gln4077His)
c.12204G>T (p.Gln4068His)
c.12186G>T (p.Gln4062His)
c.12132G>T (p.Gln4044His)
c.12051G>T (p.Gln4017His)
c.11994G>T (p.Gln3998His)
c.10080G>T (p.Gln3360His)
c.9258G>T (p.Gln3086His)
n.12098G>T
c.12300G>T (p.Gln4100His)
c.12228G>T (p.Gln4076His)
c.12090G>T (p.Gln4030His)
c.10176G>T (p.Gln3392His)
 gnomAD v4
16g.2090549C=CA2202042023PKD1c.12180G= (p.Gln4060=)
c.12177G= (p.Gln4059=)
n.208G=
c.9135G= (p.Gln3045=)
c.12258G= (p.Gln4086=)
c.12255G= (p.Gln4085=)
c.12240G= (p.Gln4080=)
c.12234G= (p.Gln4078=)
c.12231G= (p.Gln4077=)
c.12204G= (p.Gln4068=)
c.12186G= (p.Gln4062=)
c.12132G= (p.Gln4044=)
c.12051G= (p.Gln4017=)
c.11994G= (p.Gln3998=)
c.10080G= (p.Gln3360=)
c.9258G= (p.Gln3086=)
n.12098G=
c.12300G= (p.Gln4100=)
c.12228G= (p.Gln4076=)
c.12090G= (p.Gln4030=)
c.10176G= (p.Gln3392=)
16g.2090549C>GCA7828735PKD1c.12180G>C (p.Gln4060His)
c.12177G>C (p.Gln4059His)
n.208G>C
c.9135G>C (p.Gln3045His)
c.12258G>C (p.Gln4086His)
c.12255G>C (p.Gln4085His)
c.12240G>C (p.Gln4080His)
c.12234G>C (p.Gln4078His)
c.12231G>C (p.Gln4077His)
c.12204G>C (p.Gln4068His)
c.12186G>C (p.Gln4062His)
c.12132G>C (p.Gln4044His)
c.12051G>C (p.Gln4017His)
c.11994G>C (p.Gln3998His)
c.10080G>C (p.Gln3360His)
c.9258G>C (p.Gln3086His)
n.12098G>C
c.12300G>C (p.Gln4100His)
c.12228G>C (p.Gln4076His)
c.12090G>C (p.Gln4030His)
c.10176G>C (p.Gln3392His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2090549C>TCA493044302PKD1c.12180G>A (p.Gln4060=)
c.12177G>A (p.Gln4059=)
n.208G>A
c.9135G>A (p.Gln3045=)
c.12258G>A (p.Gln4086=)
c.12255G>A (p.Gln4085=)
c.12240G>A (p.Gln4080=)
c.12234G>A (p.Gln4078=)
c.12231G>A (p.Gln4077=)
c.12204G>A (p.Gln4068=)
c.12186G>A (p.Gln4062=)
c.12132G>A (p.Gln4044=)
c.12051G>A (p.Gln4017=)
c.11994G>A (p.Gln3998=)
c.10080G>A (p.Gln3360=)
c.9258G>A (p.Gln3086=)
n.12098G>A
c.12300G>A (p.Gln4100=)
c.12228G>A (p.Gln4076=)
c.12090G>A (p.Gln4030=)
c.10176G>A (p.Gln3392=)
 dbSNP gnomAD v3 gnomAD v4
16g.2090550T>ACA394326552PKD1c.12179A>T (p.Gln4060Leu)
c.12176A>T (p.Gln4059Leu)
n.207A>T
c.9134A>T (p.Gln3045Leu)
c.12257A>T (p.Gln4086Leu)
c.12254A>T (p.Gln4085Leu)
c.12239A>T (p.Gln4080Leu)
c.12233A>T (p.Gln4078Leu)
c.12230A>T (p.Gln4077Leu)
c.12203A>T (p.Gln4068Leu)
c.12185A>T (p.Gln4062Leu)
c.12131A>T (p.Gln4044Leu)
c.12050A>T (p.Gln4017Leu)
c.11993A>T (p.Gln3998Leu)
c.10079A>T (p.Gln3360Leu)
c.9257A>T (p.Gln3086Leu)
n.12097A>T
c.12299A>T (p.Gln4100Leu)
c.12227A>T (p.Gln4076Leu)
c.12089A>T (p.Gln4030Leu)
c.10175A>T (p.Gln3392Leu)
16g.2090550T>CCA394326555PKD1c.12179A>G (p.Gln4060Arg)
c.12176A>G (p.Gln4059Arg)
n.207A>G
c.9134A>G (p.Gln3045Arg)
c.12257A>G (p.Gln4086Arg)
c.12254A>G (p.Gln4085Arg)
c.12239A>G (p.Gln4080Arg)
c.12233A>G (p.Gln4078Arg)
c.12230A>G (p.Gln4077Arg)
c.12203A>G (p.Gln4068Arg)
c.12185A>G (p.Gln4062Arg)
c.12131A>G (p.Gln4044Arg)
c.12050A>G (p.Gln4017Arg)
c.11993A>G (p.Gln3998Arg)
c.10079A>G (p.Gln3360Arg)
c.9257A>G (p.Gln3086Arg)
n.12097A>G
c.12299A>G (p.Gln4100Arg)
c.12227A>G (p.Gln4076Arg)
c.12089A>G (p.Gln4030Arg)
c.10175A>G (p.Gln3392Arg)
 gnomAD v4
16g.2090550T>GCA394326558PKD1c.12179A>C (p.Gln4060Pro)
c.12176A>C (p.Gln4059Pro)
n.207A>C
c.9134A>C (p.Gln3045Pro)
c.12257A>C (p.Gln4086Pro)
c.12254A>C (p.Gln4085Pro)
c.12239A>C (p.Gln4080Pro)
c.12233A>C (p.Gln4078Pro)
c.12230A>C (p.Gln4077Pro)
c.12203A>C (p.Gln4068Pro)
c.12185A>C (p.Gln4062Pro)
c.12131A>C (p.Gln4044Pro)
c.12050A>C (p.Gln4017Pro)
c.11993A>C (p.Gln3998Pro)
c.10079A>C (p.Gln3360Pro)
c.9257A>C (p.Gln3086Pro)
n.12097A>C
c.12299A>C (p.Gln4100Pro)
c.12227A>C (p.Gln4076Pro)
c.12089A>C (p.Gln4030Pro)
c.10175A>C (p.Gln3392Pro)
 dbSNP
16g.2090550T=CA2202042029PKD1c.12179A= (p.Gln4060=)
c.12176A= (p.Gln4059=)
n.207A=
c.9134A= (p.Gln3045=)
c.12257A= (p.Gln4086=)
c.12254A= (p.Gln4085=)
c.12239A= (p.Gln4080=)
c.12233A= (p.Gln4078=)
c.12230A= (p.Gln4077=)
c.12203A= (p.Gln4068=)
c.12185A= (p.Gln4062=)
c.12131A= (p.Gln4044=)
c.12050A= (p.Gln4017=)
c.11993A= (p.Gln3998=)
c.10079A= (p.Gln3360=)
c.9257A= (p.Gln3086=)
n.12097A=
c.12299A= (p.Gln4100=)
c.12227A= (p.Gln4076=)
c.12089A= (p.Gln4030=)
c.10175A= (p.Gln3392=)
16g.2090551G>ACA394326562PKD1c.12178C>T (p.Gln4060Ter)
c.12175C>T (p.Gln4059Ter)
n.206C>T
c.9133C>T (p.Gln3045Ter)
c.12256C>T (p.Gln4086Ter)
c.12253C>T (p.Gln4085Ter)
c.12238C>T (p.Gln4080Ter)
c.12232C>T (p.Gln4078Ter)
c.12229C>T (p.Gln4077Ter)
c.12202C>T (p.Gln4068Ter)
c.12184C>T (p.Gln4062Ter)
c.12130C>T (p.Gln4044Ter)
c.12049C>T (p.Gln4017Ter)
c.11992C>T (p.Gln3998Ter)
c.10078C>T (p.Gln3360Ter)
c.9256C>T (p.Gln3086Ter)
n.12096C>T
c.12298C>T (p.Gln4100Ter)
c.12226C>T (p.Gln4076Ter)
c.12088C>T (p.Gln4030Ter)
c.10174C>T (p.Gln3392Ter)
 ClinVar dbSNP
16g.2090551G>CCA394326564PKD1c.12178C>G (p.Gln4060Glu)
c.12175C>G (p.Gln4059Glu)
n.206C>G
c.9133C>G (p.Gln3045Glu)
c.12256C>G (p.Gln4086Glu)
c.12253C>G (p.Gln4085Glu)
c.12238C>G (p.Gln4080Glu)
c.12232C>G (p.Gln4078Glu)
c.12229C>G (p.Gln4077Glu)
c.12202C>G (p.Gln4068Glu)
c.12184C>G (p.Gln4062Glu)
c.12130C>G (p.Gln4044Glu)
c.12049C>G (p.Gln4017Glu)
c.11992C>G (p.Gln3998Glu)
c.10078C>G (p.Gln3360Glu)
c.9256C>G (p.Gln3086Glu)
n.12096C>G
c.12298C>G (p.Gln4100Glu)
c.12226C>G (p.Gln4076Glu)
c.12088C>G (p.Gln4030Glu)
c.10174C>G (p.Gln3392Glu)
 gnomAD v4
16g.2090551G=CA2202042033PKD1c.12178C= (p.Gln4060=)
c.12175C= (p.Gln4059=)
n.206C=
c.9133C= (p.Gln3045=)
c.12256C= (p.Gln4086=)
c.12253C= (p.Gln4085=)
c.12238C= (p.Gln4080=)
c.12232C= (p.Gln4078=)
c.12229C= (p.Gln4077=)
c.12202C= (p.Gln4068=)
c.12184C= (p.Gln4062=)
c.12130C= (p.Gln4044=)
c.12049C= (p.Gln4017=)
c.11992C= (p.Gln3998=)
c.10078C= (p.Gln3360=)
c.9256C= (p.Gln3086=)
n.12096C=
c.12298C= (p.Gln4100=)
c.12226C= (p.Gln4076=)
c.12088C= (p.Gln4030=)
c.10174C= (p.Gln3392=)
16g.2090551G>TCA394326567PKD1c.12178C>A (p.Gln4060Lys)
c.12175C>A (p.Gln4059Lys)
n.206C>A
c.9133C>A (p.Gln3045Lys)
c.12256C>A (p.Gln4086Lys)
c.12253C>A (p.Gln4085Lys)
c.12238C>A (p.Gln4080Lys)
c.12232C>A (p.Gln4078Lys)
c.12229C>A (p.Gln4077Lys)
c.12202C>A (p.Gln4068Lys)
c.12184C>A (p.Gln4062Lys)
c.12130C>A (p.Gln4044Lys)
c.12049C>A (p.Gln4017Lys)
c.11992C>A (p.Gln3998Lys)
c.10078C>A (p.Gln3360Lys)
c.9256C>A (p.Gln3086Lys)
n.12096C>A
c.12298C>A (p.Gln4100Lys)
c.12226C>A (p.Gln4076Lys)
c.12088C>A (p.Gln4030Lys)
c.10174C>A (p.Gln3392Lys)
16g.2090553dupCA2695221564PKD1c.12178dup (p.Gln4060ProfsTer?)
c.12175dup (p.Gln4059ProfsTer?)
n.206dup
c.9133dup (p.Gln3045ProfsTer?)
c.12256dup (p.Gln4086ProfsTer?)
c.12253dup (p.Gln4085ProfsTer?)
c.12238dup (p.Gln4080ProfsTer?)
c.12232dup (p.Gln4078ProfsTer?)
c.12229dup (p.Gln4077ProfsTer?)
c.12202dup (p.Gln4068ProfsTer?)
c.12184dup (p.Gln4062ProfsTer?)
c.12130dup (p.Gln4044ProfsTer?)
c.12049dup (p.Gln4017ProfsTer?)
c.11992dup (p.Gln3998ProfsTer?)
c.10078dup (p.Gln3360ProfsTer?)
c.9256dup (p.Gln3086ProfsTer?)
n.12096dup
c.12298dup (p.Gln4100ProfsTer?)
c.12226dup (p.Gln4076ProfsTer?)
c.12088dup (p.Gln4030ProfsTer?)
c.10174dup (p.Gln3392ProfsTer?)
16g.2090551_2090568dupCA620705211PKD1c.12161_12178dup (p.Ala4059_Gln4060insProLeuTrpSerValAla)
c.12158_12175dup (p.Ala4058_Gln4059insProLeuTrpSerValAla)
n.189_206dup
c.9116_9133dup (p.Ala3044_Gln3045insProLeuTrpSerValAla)
c.12239_12256dup (p.Ala4085_Gln4086insProLeuTrpSerValAla)
c.12236_12253dup (p.Ala4084_Gln4085insProLeuTrpSerValAla)
c.12221_12238dup (p.Ala4079_Gln4080insProLeuTrpSerValAla)
c.12215_12232dup (p.Ala4077_Gln4078insProLeuTrpSerValAla)
c.12212_12229dup (p.Ala4076_Gln4077insProLeuTrpSerValAla)
c.12185_12202dup (p.Ala4067_Gln4068insProLeuTrpSerValAla)
c.12167_12184dup (p.Ala4061_Gln4062insProLeuTrpSerValAla)
c.12113_12130dup (p.Ala4043_Gln4044insProLeuTrpSerValAla)
c.12032_12049dup (p.Ala4016_Gln4017insProLeuTrpSerValAla)
c.11975_11992dup (p.Ala3997_Gln3998insProLeuTrpSerValAla)
c.10061_10078dup (p.Ala3359_Gln3360insProLeuTrpSerValAla)
c.9239_9256dup (p.Ala3085_Gln3086insProLeuTrpSerValAla)
n.12079_12096dup
c.12281_12298dup (p.Ala4099_Gln4100insProLeuTrpSerValAla)
c.12209_12226dup (p.Ala4075_Gln4076insProLeuTrpSerValAla)
c.12071_12088dup (p.Ala4029_Gln4030insProLeuTrpSerValAla)
c.10157_10174dup (p.Ala3391_Gln3392insProLeuTrpSerValAla)
 dbSNP gnomAD v2 gnomAD v4
16g.2090552G>ACA493044305PKD1c.12177C>T (p.Ala4059=)
c.12174C>T (p.Ala4058=)
n.205C>T
c.9132C>T (p.Ala3044=)
c.12255C>T (p.Ala4085=)
c.12252C>T (p.Ala4084=)
c.12237C>T (p.Ala4079=)
c.12231C>T (p.Ala4077=)
c.12228C>T (p.Ala4076=)
c.12201C>T (p.Ala4067=)
c.12183C>T (p.Ala4061=)
c.12129C>T (p.Ala4043=)
c.12048C>T (p.Ala4016=)
c.11991C>T (p.Ala3997=)
c.10077C>T (p.Ala3359=)
c.9255C>T (p.Ala3085=)
n.12095C>T
c.12297C>T (p.Ala4099=)
c.12225C>T (p.Ala4075=)
c.12087C>T (p.Ala4029=)
c.10173C>T (p.Ala3391=)
 dbSNP gnomAD v2 gnomAD v4
16g.2090552G>CCA493044306PKD1c.12177C>G (p.Ala4059=)
c.12174C>G (p.Ala4058=)
n.205C>G
c.9132C>G (p.Ala3044=)
c.12255C>G (p.Ala4085=)
c.12252C>G (p.Ala4084=)
c.12237C>G (p.Ala4079=)
c.12231C>G (p.Ala4077=)
c.12228C>G (p.Ala4076=)
c.12201C>G (p.Ala4067=)
c.12183C>G (p.Ala4061=)
c.12129C>G (p.Ala4043=)
c.12048C>G (p.Ala4016=)
c.11991C>G (p.Ala3997=)
c.10077C>G (p.Ala3359=)
c.9255C>G (p.Ala3085=)
n.12095C>G
c.12297C>G (p.Ala4099=)
c.12225C>G (p.Ala4075=)
c.12087C>G (p.Ala4029=)
c.10173C>G (p.Ala3391=)
16g.2090552G=CA2202042040PKD1c.12177C= (p.Ala4059=)
c.12174C= (p.Ala4058=)
n.205C=
c.9132C= (p.Ala3044=)
c.12255C= (p.Ala4085=)
c.12252C= (p.Ala4084=)
c.12237C= (p.Ala4079=)
c.12231C= (p.Ala4077=)
c.12228C= (p.Ala4076=)
c.12201C= (p.Ala4067=)
c.12183C= (p.Ala4061=)
c.12129C= (p.Ala4043=)
c.12048C= (p.Ala4016=)
c.11991C= (p.Ala3997=)
c.10077C= (p.Ala3359=)
c.9255C= (p.Ala3085=)
n.12095C=
c.12297C= (p.Ala4099=)
c.12225C= (p.Ala4075=)
c.12087C= (p.Ala4029=)
c.10173C= (p.Ala3391=)
16g.2090552G>TCA7828736PKD1c.12177C>A (p.Ala4059=)
c.12174C>A (p.Ala4058=)
n.205C>A
c.9132C>A (p.Ala3044=)
c.12255C>A (p.Ala4085=)
c.12252C>A (p.Ala4084=)
c.12237C>A (p.Ala4079=)
c.12231C>A (p.Ala4077=)
c.12228C>A (p.Ala4076=)
c.12201C>A (p.Ala4067=)
c.12183C>A (p.Ala4061=)
c.12129C>A (p.Ala4043=)
c.12048C>A (p.Ala4016=)
c.11991C>A (p.Ala3997=)
c.10077C>A (p.Ala3359=)
c.9255C>A (p.Ala3085=)
n.12095C>A
c.12297C>A (p.Ala4099=)
c.12225C>A (p.Ala4075=)
c.12087C>A (p.Ala4029=)
c.10173C>A (p.Ala3391=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2090553G>ACA7828737PKD1c.12176C>T (p.Ala4059Val)
c.12173C>T (p.Ala4058Val)
n.204C>T
c.9131C>T (p.Ala3044Val)
c.12254C>T (p.Ala4085Val)
c.12251C>T (p.Ala4084Val)
c.12236C>T (p.Ala4079Val)
c.12230C>T (p.Ala4077Val)
c.12227C>T (p.Ala4076Val)
c.12200C>T (p.Ala4067Val)
c.12182C>T (p.Ala4061Val)
c.12128C>T (p.Ala4043Val)
c.12047C>T (p.Ala4016Val)
c.11990C>T (p.Ala3997Val)
c.10076C>T (p.Ala3359Val)
c.9254C>T (p.Ala3085Val)
n.12094C>T
c.12296C>T (p.Ala4099Val)
c.12224C>T (p.Ala4075Val)
c.12086C>T (p.Ala4029Val)
c.10172C>T (p.Ala3391Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090553G>CCA394326570PKD1c.12176C>G (p.Ala4059Gly)
c.12173C>G (p.Ala4058Gly)
n.204C>G
c.9131C>G (p.Ala3044Gly)
c.12254C>G (p.Ala4085Gly)
c.12251C>G (p.Ala4084Gly)
c.12236C>G (p.Ala4079Gly)
c.12230C>G (p.Ala4077Gly)
c.12227C>G (p.Ala4076Gly)
c.12200C>G (p.Ala4067Gly)
c.12182C>G (p.Ala4061Gly)
c.12128C>G (p.Ala4043Gly)
c.12047C>G (p.Ala4016Gly)
c.11990C>G (p.Ala3997Gly)
c.10076C>G (p.Ala3359Gly)
c.9254C>G (p.Ala3085Gly)
n.12094C>G
c.12296C>G (p.Ala4099Gly)
c.12224C>G (p.Ala4075Gly)
c.12086C>G (p.Ala4029Gly)
c.10172C>G (p.Ala3391Gly)
 dbSNP gnomAD v2 gnomAD v4
16g.2090553G=CA2202042047PKD1c.12176C= (p.Ala4059=)
c.12173C= (p.Ala4058=)
n.204C=
c.9131C= (p.Ala3044=)
c.12254C= (p.Ala4085=)
c.12251C= (p.Ala4084=)
c.12236C= (p.Ala4079=)
c.12230C= (p.Ala4077=)
c.12227C= (p.Ala4076=)
c.12200C= (p.Ala4067=)
c.12182C= (p.Ala4061=)
c.12128C= (p.Ala4043=)
c.12047C= (p.Ala4016=)
c.11990C= (p.Ala3997=)
c.10076C= (p.Ala3359=)
c.9254C= (p.Ala3085=)
n.12094C=
c.12296C= (p.Ala4099=)
c.12224C= (p.Ala4075=)
c.12086C= (p.Ala4029=)
c.10172C= (p.Ala3391=)
16g.2090553G>TCA394326569PKD1c.12176C>A (p.Ala4059Asp)
c.12173C>A (p.Ala4058Asp)
n.204C>A
c.9131C>A (p.Ala3044Asp)
c.12254C>A (p.Ala4085Asp)
c.12251C>A (p.Ala4084Asp)
c.12236C>A (p.Ala4079Asp)
c.12230C>A (p.Ala4077Asp)
c.12227C>A (p.Ala4076Asp)
c.12200C>A (p.Ala4067Asp)
c.12182C>A (p.Ala4061Asp)
c.12128C>A (p.Ala4043Asp)
c.12047C>A (p.Ala4016Asp)
c.11990C>A (p.Ala3997Asp)
c.10076C>A (p.Ala3359Asp)
c.9254C>A (p.Ala3085Asp)
n.12094C>A
c.12296C>A (p.Ala4099Asp)
c.12224C>A (p.Ala4075Asp)
c.12086C>A (p.Ala4029Asp)
c.10172C>A (p.Ala3391Asp)
16g.2090554C>ACA394326577PKD1c.12175G>T (p.Ala4059Ser)
c.12172G>T (p.Ala4058Ser)
n.203G>T
c.9130G>T (p.Ala3044Ser)
c.12253G>T (p.Ala4085Ser)
c.12250G>T (p.Ala4084Ser)
c.12235G>T (p.Ala4079Ser)
c.12229G>T (p.Ala4077Ser)
c.12226G>T (p.Ala4076Ser)
c.12199G>T (p.Ala4067Ser)
c.12181G>T (p.Ala4061Ser)
c.12127G>T (p.Ala4043Ser)
c.12046G>T (p.Ala4016Ser)
c.11989G>T (p.Ala3997Ser)
c.10075G>T (p.Ala3359Ser)
c.9253G>T (p.Ala3085Ser)
n.12093G>T
c.12295G>T (p.Ala4099Ser)
c.12223G>T (p.Ala4075Ser)
c.12085G>T (p.Ala4029Ser)
c.10171G>T (p.Ala3391Ser)
16g.2090554C=CA2202042054PKD1c.12175G= (p.Ala4059=)
c.12172G= (p.Ala4058=)
n.203G=
c.9130G= (p.Ala3044=)
c.12253G= (p.Ala4085=)
c.12250G= (p.Ala4084=)
c.12235G= (p.Ala4079=)
c.12229G= (p.Ala4077=)
c.12226G= (p.Ala4076=)
c.12199G= (p.Ala4067=)
c.12181G= (p.Ala4061=)
c.12127G= (p.Ala4043=)
c.12046G= (p.Ala4016=)
c.11989G= (p.Ala3997=)
c.10075G= (p.Ala3359=)
c.9253G= (p.Ala3085=)
n.12093G=
c.12295G= (p.Ala4099=)
c.12223G= (p.Ala4075=)
c.12085G= (p.Ala4029=)
c.10171G= (p.Ala3391=)
16g.2090554C>GCA394326581PKD1c.12175G>C (p.Ala4059Pro)
c.12172G>C (p.Ala4058Pro)
n.203G>C
c.9130G>C (p.Ala3044Pro)
c.12253G>C (p.Ala4085Pro)
c.12250G>C (p.Ala4084Pro)
c.12235G>C (p.Ala4079Pro)
c.12229G>C (p.Ala4077Pro)
c.12226G>C (p.Ala4076Pro)
c.12199G>C (p.Ala4067Pro)
c.12181G>C (p.Ala4061Pro)
c.12127G>C (p.Ala4043Pro)
c.12046G>C (p.Ala4016Pro)
c.11989G>C (p.Ala3997Pro)
c.10075G>C (p.Ala3359Pro)
c.9253G>C (p.Ala3085Pro)
n.12093G>C
c.12295G>C (p.Ala4099Pro)
c.12223G>C (p.Ala4075Pro)
c.12085G>C (p.Ala4029Pro)
c.10171G>C (p.Ala3391Pro)
16g.2090554C>TCA7828738PKD1c.12175G>A (p.Ala4059Thr)
c.12172G>A (p.Ala4058Thr)
n.203G>A
c.9130G>A (p.Ala3044Thr)
c.12253G>A (p.Ala4085Thr)
c.12250G>A (p.Ala4084Thr)
c.12235G>A (p.Ala4079Thr)
c.12229G>A (p.Ala4077Thr)
c.12226G>A (p.Ala4076Thr)
c.12199G>A (p.Ala4067Thr)
c.12181G>A (p.Ala4061Thr)
c.12127G>A (p.Ala4043Thr)
c.12046G>A (p.Ala4016Thr)
c.11989G>A (p.Ala3997Thr)
c.10075G>A (p.Ala3359Thr)
c.9253G>A (p.Ala3085Thr)
n.12093G>A
c.12295G>A (p.Ala4099Thr)
c.12223G>A (p.Ala4075Thr)
c.12085G>A (p.Ala4029Thr)
c.10171G>A (p.Ala3391Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090555C>ACA493044310PKD1c.12174G>T (p.Val4058=)
c.12171G>T (p.Val4057=)
n.202G>T
c.9129G>T (p.Val3043=)
c.12252G>T (p.Val4084=)
c.12249G>T (p.Val4083=)
c.12234G>T (p.Val4078=)
c.12228G>T (p.Val4076=)
c.12225G>T (p.Val4075=)
c.12198G>T (p.Val4066=)
c.12180G>T (p.Val4060=)
c.12126G>T (p.Val4042=)
c.12045G>T (p.Val4015=)
c.11988G>T (p.Val3996=)
c.10074G>T (p.Val3358=)
c.9252G>T (p.Val3084=)
n.12092G>T
c.12294G>T (p.Val4098=)
c.12222G>T (p.Val4074=)
c.12084G>T (p.Val4028=)
c.10170G>T (p.Val3390=)
16g.2090555C=CA2202042058PKD1c.12174G= (p.Val4058=)
c.12171G= (p.Val4057=)
n.202G=
c.9129G= (p.Val3043=)
c.12252G= (p.Val4084=)
c.12249G= (p.Val4083=)
c.12234G= (p.Val4078=)
c.12228G= (p.Val4076=)
c.12225G= (p.Val4075=)
c.12198G= (p.Val4066=)
c.12180G= (p.Val4060=)
c.12126G= (p.Val4042=)
c.12045G= (p.Val4015=)
c.11988G= (p.Val3996=)
c.10074G= (p.Val3358=)
c.9252G= (p.Val3084=)
n.12092G=
c.12294G= (p.Val4098=)
c.12222G= (p.Val4074=)
c.12084G= (p.Val4028=)
c.10170G= (p.Val3390=)
16g.2090555C>GCA493044312PKD1c.12174G>C (p.Val4058=)
c.12171G>C (p.Val4057=)
n.202G>C
c.9129G>C (p.Val3043=)
c.12252G>C (p.Val4084=)
c.12249G>C (p.Val4083=)
c.12234G>C (p.Val4078=)
c.12228G>C (p.Val4076=)
c.12225G>C (p.Val4075=)
c.12198G>C (p.Val4066=)
c.12180G>C (p.Val4060=)
c.12126G>C (p.Val4042=)
c.12045G>C (p.Val4015=)
c.11988G>C (p.Val3996=)
c.10074G>C (p.Val3358=)
c.9252G>C (p.Val3084=)
n.12092G>C
c.12294G>C (p.Val4098=)
c.12222G>C (p.Val4074=)
c.12084G>C (p.Val4028=)
c.10170G>C (p.Val3390=)
16g.2090555C>TCA493044313PKD1c.12174G>A (p.Val4058=)
c.12171G>A (p.Val4057=)
n.202G>A
c.9129G>A (p.Val3043=)
c.12252G>A (p.Val4084=)
c.12249G>A (p.Val4083=)
c.12234G>A (p.Val4078=)
c.12228G>A (p.Val4076=)
c.12225G>A (p.Val4075=)
c.12198G>A (p.Val4066=)
c.12180G>A (p.Val4060=)
c.12126G>A (p.Val4042=)
c.12045G>A (p.Val4015=)
c.11988G>A (p.Val3996=)
c.10074G>A (p.Val3358=)
c.9252G>A (p.Val3084=)
n.12092G>A
c.12294G>A (p.Val4098=)
c.12222G>A (p.Val4074=)
c.12084G>A (p.Val4028=)
c.10170G>A (p.Val3390=)
 dbSNP gnomAD v2 gnomAD v4
16g.2090556A=CA2202042061PKD1c.12173T= (p.Val4058=)
c.12170T= (p.Val4057=)
n.201T=
c.9128T= (p.Val3043=)
c.12251T= (p.Val4084=)
c.12248T= (p.Val4083=)
c.12233T= (p.Val4078=)
c.12227T= (p.Val4076=)
c.12224T= (p.Val4075=)
c.12197T= (p.Val4066=)
c.12179T= (p.Val4060=)
c.12125T= (p.Val4042=)
c.12044T= (p.Val4015=)
c.11987T= (p.Val3996=)
c.10073T= (p.Val3358=)
c.9251T= (p.Val3084=)
n.12091T=
c.12293T= (p.Val4098=)
c.12221T= (p.Val4074=)
c.12083T= (p.Val4028=)
c.10169T= (p.Val3390=)
16g.2090556A>CCA220106PKD1c.12173T>G (p.Val4058Gly)
c.12170T>G (p.Val4057Gly)
n.201T>G
c.9128T>G (p.Val3043Gly)
c.12251T>G (p.Val4084Gly)
c.12248T>G (p.Val4083Gly)
c.12233T>G (p.Val4078Gly)
c.12227T>G (p.Val4076Gly)
c.12224T>G (p.Val4075Gly)
c.12197T>G (p.Val4066Gly)
c.12179T>G (p.Val4060Gly)
c.12125T>G (p.Val4042Gly)
c.12044T>G (p.Val4015Gly)
c.11987T>G (p.Val3996Gly)
c.10073T>G (p.Val3358Gly)
c.9251T>G (p.Val3084Gly)
n.12091T>G
c.12293T>G (p.Val4098Gly)
c.12221T>G (p.Val4074Gly)
c.12083T>G (p.Val4028Gly)
c.10169T>G (p.Val3390Gly)
 ClinVar dbSNP
16g.2090556A>GCA394326590PKD1c.12173T>C (p.Val4058Ala)
c.12170T>C (p.Val4057Ala)
n.201T>C
c.9128T>C (p.Val3043Ala)
c.12251T>C (p.Val4084Ala)
c.12248T>C (p.Val4083Ala)
c.12233T>C (p.Val4078Ala)
c.12227T>C (p.Val4076Ala)
c.12224T>C (p.Val4075Ala)
c.12197T>C (p.Val4066Ala)
c.12179T>C (p.Val4060Ala)
c.12125T>C (p.Val4042Ala)
c.12044T>C (p.Val4015Ala)
c.11987T>C (p.Val3996Ala)
c.10073T>C (p.Val3358Ala)
c.9251T>C (p.Val3084Ala)
n.12091T>C
c.12293T>C (p.Val4098Ala)
c.12221T>C (p.Val4074Ala)
c.12083T>C (p.Val4028Ala)
c.10169T>C (p.Val3390Ala)
16g.2090556A>TCA394326598PKD1c.12173T>A (p.Val4058Glu)
c.12170T>A (p.Val4057Glu)
n.201T>A
c.9128T>A (p.Val3043Glu)
c.12251T>A (p.Val4084Glu)
c.12248T>A (p.Val4083Glu)
c.12233T>A (p.Val4078Glu)
c.12227T>A (p.Val4076Glu)
c.12224T>A (p.Val4075Glu)
c.12197T>A (p.Val4066Glu)
c.12179T>A (p.Val4060Glu)
c.12125T>A (p.Val4042Glu)
c.12044T>A (p.Val4015Glu)
c.11987T>A (p.Val3996Glu)
c.10073T>A (p.Val3358Glu)
c.9251T>A (p.Val3084Glu)
n.12091T>A
c.12293T>A (p.Val4098Glu)
c.12221T>A (p.Val4074Glu)
c.12083T>A (p.Val4028Glu)
c.10169T>A (p.Val3390Glu)
16g.2090557delCA2695221566PKD1c.12172del (p.Val4058TrpfsTer?)
c.12169del (p.Val4057TrpfsTer?)
n.200del
c.9127del (p.Val3043TrpfsTer?)
c.12250del (p.Val4084TrpfsTer?)
c.12247del (p.Val4083TrpfsTer?)
c.12232del (p.Val4078TrpfsTer?)
c.12226del (p.Val4076TrpfsTer?)
c.12223del (p.Val4075TrpfsTer?)
c.12196del (p.Val4066TrpfsTer?)
c.12178del (p.Val4060TrpfsTer?)
c.12124del (p.Val4042TrpfsTer?)
c.12043del (p.Val4015TrpfsTer?)
c.11986del (p.Val3996TrpfsTer?)
c.10072del (p.Val3358TrpfsTer?)
c.9250del (p.Val3084TrpfsTer?)
n.12090del
c.12292del (p.Val4098TrpfsTer?)
c.12220del (p.Val4074TrpfsTer?)
c.12082del (p.Val4028TrpfsTer?)
c.10168del (p.Val3390TrpfsTer?)
16g.2090557C>ACA394326601PKD1c.12172G>T (p.Val4058Leu)
c.12169G>T (p.Val4057Leu)
n.200G>T
c.9127G>T (p.Val3043Leu)
c.12250G>T (p.Val4084Leu)
c.12247G>T (p.Val4083Leu)
c.12232G>T (p.Val4078Leu)
c.12226G>T (p.Val4076Leu)
c.12223G>T (p.Val4075Leu)
c.12196G>T (p.Val4066Leu)
c.12178G>T (p.Val4060Leu)
c.12124G>T (p.Val4042Leu)
c.12043G>T (p.Val4015Leu)
c.11986G>T (p.Val3996Leu)
c.10072G>T (p.Val3358Leu)
c.9250G>T (p.Val3084Leu)
n.12090G>T
c.12292G>T (p.Val4098Leu)
c.12220G>T (p.Val4074Leu)
c.12082G>T (p.Val4028Leu)
c.10168G>T (p.Val3390Leu)
 gnomAD v4
16g.2090557C=CA2202042063PKD1c.12172G= (p.Val4058=)
c.12169G= (p.Val4057=)
n.200G=
c.9127G= (p.Val3043=)
c.12250G= (p.Val4084=)
c.12247G= (p.Val4083=)
c.12232G= (p.Val4078=)
c.12226G= (p.Val4076=)
c.12223G= (p.Val4075=)
c.12196G= (p.Val4066=)
c.12178G= (p.Val4060=)
c.12124G= (p.Val4042=)
c.12043G= (p.Val4015=)
c.11986G= (p.Val3996=)
c.10072G= (p.Val3358=)
c.9250G= (p.Val3084=)
n.12090G=
c.12292G= (p.Val4098=)
c.12220G= (p.Val4074=)
c.12082G= (p.Val4028=)
c.10168G= (p.Val3390=)
16g.2090557C>GCA394326604PKD1c.12172G>C (p.Val4058Leu)
c.12169G>C (p.Val4057Leu)
n.200G>C
c.9127G>C (p.Val3043Leu)
c.12250G>C (p.Val4084Leu)
c.12247G>C (p.Val4083Leu)
c.12232G>C (p.Val4078Leu)
c.12226G>C (p.Val4076Leu)
c.12223G>C (p.Val4075Leu)
c.12196G>C (p.Val4066Leu)
c.12178G>C (p.Val4060Leu)
c.12124G>C (p.Val4042Leu)
c.12043G>C (p.Val4015Leu)
c.11986G>C (p.Val3996Leu)
c.10072G>C (p.Val3358Leu)
c.9250G>C (p.Val3084Leu)
n.12090G>C
c.12292G>C (p.Val4098Leu)
c.12220G>C (p.Val4074Leu)
c.12082G>C (p.Val4028Leu)
c.10168G>C (p.Val3390Leu)
 gnomAD v4
16g.2090557C>TCA7828739PKD1c.12172G>A (p.Val4058Met)
c.12169G>A (p.Val4057Met)
n.200G>A
c.9127G>A (p.Val3043Met)
c.12250G>A (p.Val4084Met)
c.12247G>A (p.Val4083Met)
c.12232G>A (p.Val4078Met)
c.12226G>A (p.Val4076Met)
c.12223G>A (p.Val4075Met)
c.12196G>A (p.Val4066Met)
c.12178G>A (p.Val4060Met)
c.12124G>A (p.Val4042Met)
c.12043G>A (p.Val4015Met)
c.11986G>A (p.Val3996Met)
c.10072G>A (p.Val3358Met)
c.9250G>A (p.Val3084Met)
n.12090G>A
c.12292G>A (p.Val4098Met)
c.12220G>A (p.Val4074Met)
c.12082G>A (p.Val4028Met)
c.10168G>A (p.Val3390Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.2090558_2090559delCA2695221565PKD1c.12171_12172del (p.Val4058GlyfsTer?)
c.12168_12169del (p.Val4057GlyfsTer?)
n.199_200del
c.9126_9127del (p.Val3043GlyfsTer?)
c.12249_12250del (p.Val4084GlyfsTer?)
c.12246_12247del (p.Val4083GlyfsTer?)
c.12231_12232del (p.Val4078GlyfsTer?)
c.12225_12226del (p.Val4076GlyfsTer?)
c.12222_12223del (p.Val4075GlyfsTer?)
c.12195_12196del (p.Val4066GlyfsTer?)
c.12177_12178del (p.Val4060GlyfsTer?)
c.12123_12124del (p.Val4042GlyfsTer?)
c.12042_12043del (p.Val4015GlyfsTer?)
c.11985_11986del (p.Val3996GlyfsTer?)
c.10071_10072del (p.Val3358GlyfsTer?)
c.9249_9250del (p.Val3084GlyfsTer?)
n.12089_12090del
c.12291_12292del (p.Val4098GlyfsTer?)
c.12219_12220del (p.Val4074GlyfsTer?)
c.12081_12082del (p.Val4028GlyfsTer?)
c.10167_10168del (p.Val3390GlyfsTer?)
16g.2090558G>ACA7828740PKD1c.12171C>T (p.Ser4057=)
c.12168C>T (p.Ser4056=)
n.199C>T
c.9126C>T (p.Ser3042=)
c.12249C>T (p.Ser4083=)
c.12246C>T (p.Ser4082=)
c.12231C>T (p.Ser4077=)
c.12225C>T (p.Ser4075=)
c.12222C>T (p.Ser4074=)
c.12195C>T (p.Ser4065=)
c.12177C>T (p.Ser4059=)
c.12123C>T (p.Ser4041=)
c.12042C>T (p.Ser4014=)
c.11985C>T (p.Ser3995=)
c.10071C>T (p.Ser3357=)
c.9249C>T (p.Ser3083=)
n.12089C>T
c.12291C>T (p.Ser4097=)
c.12219C>T (p.Ser4073=)
c.12081C>T (p.Ser4027=)
c.10167C>T (p.Ser3389=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090558G>CCA394326611PKD1c.12171C>G (p.Ser4057Arg)
c.12168C>G (p.Ser4056Arg)
n.199C>G
c.9126C>G (p.Ser3042Arg)
c.12249C>G (p.Ser4083Arg)
c.12246C>G (p.Ser4082Arg)
c.12231C>G (p.Ser4077Arg)
c.12225C>G (p.Ser4075Arg)
c.12222C>G (p.Ser4074Arg)
c.12195C>G (p.Ser4065Arg)
c.12177C>G (p.Ser4059Arg)
c.12123C>G (p.Ser4041Arg)
c.12042C>G (p.Ser4014Arg)
c.11985C>G (p.Ser3995Arg)
c.10071C>G (p.Ser3357Arg)
c.9249C>G (p.Ser3083Arg)
n.12089C>G
c.12291C>G (p.Ser4097Arg)
c.12219C>G (p.Ser4073Arg)
c.12081C>G (p.Ser4027Arg)
c.10167C>G (p.Ser3389Arg)
 gnomAD v4
16g.2090558G=CA2202042065PKD1c.12171C= (p.Ser4057=)
c.12168C= (p.Ser4056=)
n.199C=
c.9126C= (p.Ser3042=)
c.12249C= (p.Ser4083=)
c.12246C= (p.Ser4082=)
c.12231C= (p.Ser4077=)
c.12225C= (p.Ser4075=)
c.12222C= (p.Ser4074=)
c.12195C= (p.Ser4065=)
c.12177C= (p.Ser4059=)
c.12123C= (p.Ser4041=)
c.12042C= (p.Ser4014=)
c.11985C= (p.Ser3995=)
c.10071C= (p.Ser3357=)
c.9249C= (p.Ser3083=)
n.12089C=
c.12291C= (p.Ser4097=)
c.12219C= (p.Ser4073=)
c.12081C= (p.Ser4027=)
c.10167C= (p.Ser3389=)
16g.2090558G>TCA394326613PKD1c.12171C>A (p.Ser4057Arg)
c.12168C>A (p.Ser4056Arg)
n.199C>A
c.9126C>A (p.Ser3042Arg)
c.12249C>A (p.Ser4083Arg)
c.12246C>A (p.Ser4082Arg)
c.12231C>A (p.Ser4077Arg)
c.12225C>A (p.Ser4075Arg)
c.12222C>A (p.Ser4074Arg)
c.12195C>A (p.Ser4065Arg)
c.12177C>A (p.Ser4059Arg)
c.12123C>A (p.Ser4041Arg)
c.12042C>A (p.Ser4014Arg)
c.11985C>A (p.Ser3995Arg)
c.10071C>A (p.Ser3357Arg)
c.9249C>A (p.Ser3083Arg)
n.12089C>A
c.12291C>A (p.Ser4097Arg)
c.12219C>A (p.Ser4073Arg)
c.12081C>A (p.Ser4027Arg)
c.10167C>A (p.Ser3389Arg)
 dbSNP gnomAD v2 gnomAD v4
16g.2090559C>ACA394326618PKD1c.12170G>T (p.Ser4057Ile)
c.12167G>T (p.Ser4056Ile)
n.198G>T
c.9125G>T (p.Ser3042Ile)
c.12248G>T (p.Ser4083Ile)
c.12245G>T (p.Ser4082Ile)
c.12230G>T (p.Ser4077Ile)
c.12224G>T (p.Ser4075Ile)
c.12221G>T (p.Ser4074Ile)
c.12194G>T (p.Ser4065Ile)
c.12176G>T (p.Ser4059Ile)
c.12122G>T (p.Ser4041Ile)
c.12041G>T (p.Ser4014Ile)
c.11984G>T (p.Ser3995Ile)
c.10070G>T (p.Ser3357Ile)
c.9248G>T (p.Ser3083Ile)
n.12088G>T
c.12290G>T (p.Ser4097Ile)
c.12218G>T (p.Ser4073Ile)
c.12080G>T (p.Ser4027Ile)
c.10166G>T (p.Ser3389Ile)
16g.2090559C=CA2202042068PKD1c.12170G= (p.Ser4057=)
c.12167G= (p.Ser4056=)
n.198G=
c.9125G= (p.Ser3042=)
c.12248G= (p.Ser4083=)
c.12245G= (p.Ser4082=)
c.12230G= (p.Ser4077=)
c.12224G= (p.Ser4075=)
c.12221G= (p.Ser4074=)
c.12194G= (p.Ser4065=)
c.12176G= (p.Ser4059=)
c.12122G= (p.Ser4041=)
c.12041G= (p.Ser4014=)
c.11984G= (p.Ser3995=)
c.10070G= (p.Ser3357=)
c.9248G= (p.Ser3083=)
n.12088G=
c.12290G= (p.Ser4097=)
c.12218G= (p.Ser4073=)
c.12080G= (p.Ser4027=)
c.10166G= (p.Ser3389=)
16g.2090559C>GCA394326621PKD1c.12170G>C (p.Ser4057Thr)
c.12167G>C (p.Ser4056Thr)
n.198G>C
c.9125G>C (p.Ser3042Thr)
c.12248G>C (p.Ser4083Thr)
c.12245G>C (p.Ser4082Thr)
c.12230G>C (p.Ser4077Thr)
c.12224G>C (p.Ser4075Thr)
c.12221G>C (p.Ser4074Thr)
c.12194G>C (p.Ser4065Thr)
c.12176G>C (p.Ser4059Thr)
c.12122G>C (p.Ser4041Thr)
c.12041G>C (p.Ser4014Thr)
c.11984G>C (p.Ser3995Thr)
c.10070G>C (p.Ser3357Thr)
c.9248G>C (p.Ser3083Thr)
n.12088G>C
c.12290G>C (p.Ser4097Thr)
c.12218G>C (p.Ser4073Thr)
c.12080G>C (p.Ser4027Thr)
c.10166G>C (p.Ser3389Thr)
16g.2090559C>TCA7828741PKD1c.12170G>A (p.Ser4057Asn)
c.12167G>A (p.Ser4056Asn)
n.198G>A
c.9125G>A (p.Ser3042Asn)
c.12248G>A (p.Ser4083Asn)
c.12245G>A (p.Ser4082Asn)
c.12230G>A (p.Ser4077Asn)
c.12224G>A (p.Ser4075Asn)
c.12221G>A (p.Ser4074Asn)
c.12194G>A (p.Ser4065Asn)
c.12176G>A (p.Ser4059Asn)
c.12122G>A (p.Ser4041Asn)
c.12041G>A (p.Ser4014Asn)
c.11984G>A (p.Ser3995Asn)
c.10070G>A (p.Ser3357Asn)
c.9248G>A (p.Ser3083Asn)
n.12088G>A
c.12290G>A (p.Ser4097Asn)
c.12218G>A (p.Ser4073Asn)
c.12080G>A (p.Ser4027Asn)
c.10166G>A (p.Ser3389Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090560T>ACA394326625PKD1c.12169A>T (p.Ser4057Cys)
c.12166A>T (p.Ser4056Cys)
n.197A>T
c.9124A>T (p.Ser3042Cys)
c.12247A>T (p.Ser4083Cys)
c.12244A>T (p.Ser4082Cys)
c.12229A>T (p.Ser4077Cys)
c.12223A>T (p.Ser4075Cys)
c.12220A>T (p.Ser4074Cys)
c.12193A>T (p.Ser4065Cys)
c.12175A>T (p.Ser4059Cys)
c.12121A>T (p.Ser4041Cys)
c.12040A>T (p.Ser4014Cys)
c.11983A>T (p.Ser3995Cys)
c.10069A>T (p.Ser3357Cys)
c.9247A>T (p.Ser3083Cys)
n.12087A>T
c.12289A>T (p.Ser4097Cys)
c.12217A>T (p.Ser4073Cys)
c.12079A>T (p.Ser4027Cys)
c.10165A>T (p.Ser3389Cys)
16g.2090560T>CCA394326628PKD1c.12169A>G (p.Ser4057Gly)
c.12166A>G (p.Ser4056Gly)
n.197A>G
c.9124A>G (p.Ser3042Gly)
c.12247A>G (p.Ser4083Gly)
c.12244A>G (p.Ser4082Gly)
c.12229A>G (p.Ser4077Gly)
c.12223A>G (p.Ser4075Gly)
c.12220A>G (p.Ser4074Gly)
c.12193A>G (p.Ser4065Gly)
c.12175A>G (p.Ser4059Gly)
c.12121A>G (p.Ser4041Gly)
c.12040A>G (p.Ser4014Gly)
c.11983A>G (p.Ser3995Gly)
c.10069A>G (p.Ser3357Gly)
c.9247A>G (p.Ser3083Gly)
n.12087A>G
c.12289A>G (p.Ser4097Gly)
c.12217A>G (p.Ser4073Gly)
c.12079A>G (p.Ser4027Gly)
c.10165A>G (p.Ser3389Gly)
16g.2090560T>GCA394326631PKD1c.12169A>C (p.Ser4057Arg)
c.12166A>C (p.Ser4056Arg)
n.197A>C
c.9124A>C (p.Ser3042Arg)
c.12247A>C (p.Ser4083Arg)
c.12244A>C (p.Ser4082Arg)
c.12229A>C (p.Ser4077Arg)
c.12223A>C (p.Ser4075Arg)
c.12220A>C (p.Ser4074Arg)
c.12193A>C (p.Ser4065Arg)
c.12175A>C (p.Ser4059Arg)
c.12121A>C (p.Ser4041Arg)
c.12040A>C (p.Ser4014Arg)
c.11983A>C (p.Ser3995Arg)
c.10069A>C (p.Ser3357Arg)
c.9247A>C (p.Ser3083Arg)
n.12087A>C
c.12289A>C (p.Ser4097Arg)
c.12217A>C (p.Ser4073Arg)
c.12079A>C (p.Ser4027Arg)
c.10165A>C (p.Ser3389Arg)
16g.2090561C>ACA394326636PKD1c.12168G>T (p.Trp4056Cys)
c.12165G>T (p.Trp4055Cys)
n.196G>T
c.9123G>T (p.Trp3041Cys)
c.12246G>T (p.Trp4082Cys)
c.12243G>T (p.Trp4081Cys)
c.12228G>T (p.Trp4076Cys)
c.12222G>T (p.Trp4074Cys)
c.12219G>T (p.Trp4073Cys)
c.12192G>T (p.Trp4064Cys)
c.12174G>T (p.Trp4058Cys)
c.12120G>T (p.Trp4040Cys)
c.12039G>T (p.Trp4013Cys)
c.11982G>T (p.Trp3994Cys)
c.10068G>T (p.Trp3356Cys)
c.9246G>T (p.Trp3082Cys)
n.12086G>T
c.12288G>T (p.Trp4096Cys)
c.12216G>T (p.Trp4072Cys)
c.12078G>T (p.Trp4026Cys)
c.10164G>T (p.Trp3388Cys)
16g.2090561C>GCA394326638PKD1c.12168G>C (p.Trp4056Cys)
c.12165G>C (p.Trp4055Cys)
n.196G>C
c.9123G>C (p.Trp3041Cys)
c.12246G>C (p.Trp4082Cys)
c.12243G>C (p.Trp4081Cys)
c.12228G>C (p.Trp4076Cys)
c.12222G>C (p.Trp4074Cys)
c.12219G>C (p.Trp4073Cys)
c.12192G>C (p.Trp4064Cys)
c.12174G>C (p.Trp4058Cys)
c.12120G>C (p.Trp4040Cys)
c.12039G>C (p.Trp4013Cys)
c.11982G>C (p.Trp3994Cys)
c.10068G>C (p.Trp3356Cys)
c.9246G>C (p.Trp3082Cys)
n.12086G>C
c.12288G>C (p.Trp4096Cys)
c.12216G>C (p.Trp4072Cys)
c.12078G>C (p.Trp4026Cys)
c.10164G>C (p.Trp3388Cys)
16g.2090561C>TCA394326640PKD1c.12168G>A (p.Trp4056Ter)
c.12165G>A (p.Trp4055Ter)
n.196G>A
c.9123G>A (p.Trp3041Ter)
c.12246G>A (p.Trp4082Ter)
c.12243G>A (p.Trp4081Ter)
c.12228G>A (p.Trp4076Ter)
c.12222G>A (p.Trp4074Ter)
c.12219G>A (p.Trp4073Ter)
c.12192G>A (p.Trp4064Ter)
c.12174G>A (p.Trp4058Ter)
c.12120G>A (p.Trp4040Ter)
c.12039G>A (p.Trp4013Ter)
c.11982G>A (p.Trp3994Ter)
c.10068G>A (p.Trp3356Ter)
c.9246G>A (p.Trp3082Ter)
n.12086G>A
c.12288G>A (p.Trp4096Ter)
c.12216G>A (p.Trp4072Ter)
c.12078G>A (p.Trp4026Ter)
c.10164G>A (p.Trp3388Ter)
16g.2090561_2090563delinsCCACA2202042071PKD1c.12166_12168delinsTGG (p.Trp4056=)
c.12163_12165delinsTGG (p.Trp4055=)
n.194_196delinsTGG
c.9121_9123delinsTGG (p.Trp3041=)
c.12244_12246delinsTGG (p.Trp4082=)
c.12241_12243delinsTGG (p.Trp4081=)
c.12226_12228delinsTGG (p.Trp4076=)
c.12220_12222delinsTGG (p.Trp4074=)
c.12217_12219delinsTGG (p.Trp4073=)
c.12190_12192delinsTGG (p.Trp4064=)
c.12172_12174delinsTGG (p.Trp4058=)
c.12118_12120delinsTGG (p.Trp4040=)
c.12037_12039delinsTGG (p.Trp4013=)
c.11980_11982delinsTGG (p.Trp3994=)
c.10066_10068delinsTGG (p.Trp3356=)
c.9244_9246delinsTGG (p.Trp3082=)
n.12084_12086delinsTGG
c.12286_12288delinsTGG (p.Trp4096=)
c.12214_12216delinsTGG (p.Trp4072=)
c.12076_12078delinsTGG (p.Trp4026=)
c.10162_10164delinsTGG (p.Trp3388=)
16g.2090562C>ACA394326647PKD1c.12167G>T (p.Trp4056Leu)
c.12164G>T (p.Trp4055Leu)
n.195G>T
c.9122G>T (p.Trp3041Leu)
c.12245G>T (p.Trp4082Leu)
c.12242G>T (p.Trp4081Leu)
c.12227G>T (p.Trp4076Leu)
c.12221G>T (p.Trp4074Leu)
c.12218G>T (p.Trp4073Leu)
c.12191G>T (p.Trp4064Leu)
c.12173G>T (p.Trp4058Leu)
c.12119G>T (p.Trp4040Leu)
c.12038G>T (p.Trp4013Leu)
c.11981G>T (p.Trp3994Leu)
c.10067G>T (p.Trp3356Leu)
c.9245G>T (p.Trp3082Leu)
n.12085G>T
c.12287G>T (p.Trp4096Leu)
c.12215G>T (p.Trp4072Leu)
c.12077G>T (p.Trp4026Leu)
c.10163G>T (p.Trp3388Leu)
16g.2090562C>GCA394326643PKD1c.12167G>C (p.Trp4056Ser)
c.12164G>C (p.Trp4055Ser)
n.195G>C
c.9122G>C (p.Trp3041Ser)
c.12245G>C (p.Trp4082Ser)
c.12242G>C (p.Trp4081Ser)
c.12227G>C (p.Trp4076Ser)
c.12221G>C (p.Trp4074Ser)
c.12218G>C (p.Trp4073Ser)
c.12191G>C (p.Trp4064Ser)
c.12173G>C (p.Trp4058Ser)
c.12119G>C (p.Trp4040Ser)
c.12038G>C (p.Trp4013Ser)
c.11981G>C (p.Trp3994Ser)
c.10067G>C (p.Trp3356Ser)
c.9245G>C (p.Trp3082Ser)
n.12085G>C
c.12287G>C (p.Trp4096Ser)
c.12215G>C (p.Trp4072Ser)
c.12077G>C (p.Trp4026Ser)
c.10163G>C (p.Trp3388Ser)
16g.2090562C>TCA394326645PKD1c.12167G>A (p.Trp4056Ter)
c.12164G>A (p.Trp4055Ter)
n.195G>A
c.9122G>A (p.Trp3041Ter)
c.12245G>A (p.Trp4082Ter)
c.12242G>A (p.Trp4081Ter)
c.12227G>A (p.Trp4076Ter)
c.12221G>A (p.Trp4074Ter)
c.12218G>A (p.Trp4073Ter)
c.12191G>A (p.Trp4064Ter)
c.12173G>A (p.Trp4058Ter)
c.12119G>A (p.Trp4040Ter)
c.12038G>A (p.Trp4013Ter)
c.11981G>A (p.Trp3994Ter)
c.10067G>A (p.Trp3356Ter)
c.9245G>A (p.Trp3082Ter)
n.12085G>A
c.12287G>A (p.Trp4096Ter)
c.12215G>A (p.Trp4072Ter)
c.12077G>A (p.Trp4026Ter)
c.10163G>A (p.Trp3388Ter)
 ClinVar dbSNP
16g.2090562_2090563delCA915948975PKD1c.12166_12167del (p.Trp4056GlufsTer?)
c.12163_12164del (p.Trp4055GlufsTer?)
n.194_195del
c.9121_9122del (p.Trp3041GlufsTer?)
c.12244_12245del (p.Trp4082GlufsTer?)
c.12241_12242del (p.Trp4081GlufsTer?)
c.12226_12227del (p.Trp4076GlufsTer?)
c.12220_12221del (p.Trp4074GlufsTer?)
c.12217_12218del (p.Trp4073GlufsTer?)
c.12190_12191del (p.Trp4064GlufsTer?)
c.12172_12173del (p.Trp4058GlufsTer?)
c.12118_12119del (p.Trp4040GlufsTer?)
c.12037_12038del (p.Trp4013GlufsTer?)
c.11980_11981del (p.Trp3994GlufsTer?)
c.10066_10067del (p.Trp3356GlufsTer?)
c.9244_9245del (p.Trp3082GlufsTer?)
n.12084_12085del
c.12286_12287del (p.Trp4096GlufsTer?)
c.12214_12215del (p.Trp4072GlufsTer?)
c.12076_12077del (p.Trp4026GlufsTer?)
c.10162_10163del (p.Trp3388GlufsTer?)
 ClinVar dbSNP
16g.2090563A=CA2202042078PKD1c.12166T= (p.Trp4056=)
c.12163T= (p.Trp4055=)
n.194T=
c.9121T= (p.Trp3041=)
c.12244T= (p.Trp4082=)
c.12241T= (p.Trp4081=)
c.12226T= (p.Trp4076=)
c.12220T= (p.Trp4074=)
c.12217T= (p.Trp4073=)
c.12190T= (p.Trp4064=)
c.12172T= (p.Trp4058=)
c.12118T= (p.Trp4040=)
c.12037T= (p.Trp4013=)
c.11980T= (p.Trp3994=)
c.10066T= (p.Trp3356=)
c.9244T= (p.Trp3082=)
n.12084T=
c.12286T= (p.Trp4096=)
c.12214T= (p.Trp4072=)
c.12076T= (p.Trp4026=)
c.10162T= (p.Trp3388=)
16g.2090563A>CCA394326650PKD1c.12166T>G (p.Trp4056Gly)
c.12163T>G (p.Trp4055Gly)
n.194T>G
c.9121T>G (p.Trp3041Gly)
c.12244T>G (p.Trp4082Gly)
c.12241T>G (p.Trp4081Gly)
c.12226T>G (p.Trp4076Gly)
c.12220T>G (p.Trp4074Gly)
c.12217T>G (p.Trp4073Gly)
c.12190T>G (p.Trp4064Gly)
c.12172T>G (p.Trp4058Gly)
c.12118T>G (p.Trp4040Gly)
c.12037T>G (p.Trp4013Gly)
c.11980T>G (p.Trp3994Gly)
c.10066T>G (p.Trp3356Gly)
c.9244T>G (p.Trp3082Gly)
n.12084T>G
c.12286T>G (p.Trp4096Gly)
c.12214T>G (p.Trp4072Gly)
c.12076T>G (p.Trp4026Gly)
c.10162T>G (p.Trp3388Gly)
 dbSNP gnomAD v3 gnomAD v4
16g.2090563A>GCA394326651PKD1c.12166T>C (p.Trp4056Arg)
c.12163T>C (p.Trp4055Arg)
n.194T>C
c.9121T>C (p.Trp3041Arg)
c.12244T>C (p.Trp4082Arg)
c.12241T>C (p.Trp4081Arg)
c.12226T>C (p.Trp4076Arg)
c.12220T>C (p.Trp4074Arg)
c.12217T>C (p.Trp4073Arg)
c.12190T>C (p.Trp4064Arg)
c.12172T>C (p.Trp4058Arg)
c.12118T>C (p.Trp4040Arg)
c.12037T>C (p.Trp4013Arg)
c.11980T>C (p.Trp3994Arg)
c.10066T>C (p.Trp3356Arg)
c.9244T>C (p.Trp3082Arg)
n.12084T>C
c.12286T>C (p.Trp4096Arg)
c.12214T>C (p.Trp4072Arg)
c.12076T>C (p.Trp4026Arg)
c.10162T>C (p.Trp3388Arg)
 dbSNP gnomAD v2 gnomAD v4
16g.2090563A>TCA394326657PKD1c.12166T>A (p.Trp4056Arg)
c.12163T>A (p.Trp4055Arg)
n.194T>A
c.9121T>A (p.Trp3041Arg)
c.12244T>A (p.Trp4082Arg)
c.12241T>A (p.Trp4081Arg)
c.12226T>A (p.Trp4076Arg)
c.12220T>A (p.Trp4074Arg)
c.12217T>A (p.Trp4073Arg)
c.12190T>A (p.Trp4064Arg)
c.12172T>A (p.Trp4058Arg)
c.12118T>A (p.Trp4040Arg)
c.12037T>A (p.Trp4013Arg)
c.11980T>A (p.Trp3994Arg)
c.10066T>A (p.Trp3356Arg)
c.9244T>A (p.Trp3082Arg)
n.12084T>A
c.12286T>A (p.Trp4096Arg)
c.12214T>A (p.Trp4072Arg)
c.12076T>A (p.Trp4026Arg)
c.10162T>A (p.Trp3388Arg)
16g.2090563_2090564delinsAGCA2202042075PKD1c.12165_12166delinsCT (p.Leu4055=)
c.12162_12163delinsCT (p.Leu4054=)
n.193_194delinsCT
c.9120_9121delinsCT (p.Leu3040=)
c.12243_12244delinsCT (p.Leu4081=)
c.12240_12241delinsCT (p.Leu4080=)
c.12225_12226delinsCT (p.Leu4075=)
c.12219_12220delinsCT (p.Leu4073=)
c.12216_12217delinsCT (p.Leu4072=)
c.12189_12190delinsCT (p.Leu4063=)
c.12171_12172delinsCT (p.Leu4057=)
c.12117_12118delinsCT (p.Leu4039=)
c.12036_12037delinsCT (p.Leu4012=)
c.11979_11980delinsCT (p.Leu3993=)
c.10065_10066delinsCT (p.Leu3355=)
c.9243_9244delinsCT (p.Leu3081=)
n.12083_12084delinsCT
c.12285_12286delinsCT (p.Leu4095=)
c.12213_12214delinsCT (p.Leu4071=)
c.12075_12076delinsCT (p.Leu4025=)
c.10161_10162delinsCT (p.Leu3387=)
16g.2090564delCA915948976PKD1c.12165del (p.Trp4056GlyfsTer?)
c.12162del (p.Trp4055GlyfsTer?)
n.193del
c.9120del (p.Trp3041GlyfsTer?)
c.12243del (p.Trp4082GlyfsTer?)
c.12240del (p.Trp4081GlyfsTer?)
c.12225del (p.Trp4076GlyfsTer?)
c.12219del (p.Trp4074GlyfsTer?)
c.12216del (p.Trp4073GlyfsTer?)
c.12189del (p.Trp4064GlyfsTer?)
c.12171del (p.Trp4058GlyfsTer?)
c.12117del (p.Trp4040GlyfsTer?)
c.12036del (p.Trp4013GlyfsTer?)
c.11979del (p.Trp3994GlyfsTer?)
c.10065del (p.Trp3356GlyfsTer?)
c.9243del (p.Trp3082GlyfsTer?)
n.12083del
c.12285del (p.Trp4096GlyfsTer?)
c.12213del (p.Trp4072GlyfsTer?)
c.12075del (p.Trp4026GlyfsTer?)
c.10161del (p.Trp3388GlyfsTer?)
 ClinVar dbSNP
16g.2090564G>ACA7828742PKD1c.12165C>T (p.Leu4055=)
c.12162C>T (p.Leu4054=)
n.193C>T
c.9120C>T (p.Leu3040=)
c.12243C>T (p.Leu4081=)
c.12240C>T (p.Leu4080=)
c.12225C>T (p.Leu4075=)
c.12219C>T (p.Leu4073=)
c.12216C>T (p.Leu4072=)
c.12189C>T (p.Leu4063=)
c.12171C>T (p.Leu4057=)
c.12117C>T (p.Leu4039=)
c.12036C>T (p.Leu4012=)
c.11979C>T (p.Leu3993=)
c.10065C>T (p.Leu3355=)
c.9243C>T (p.Leu3081=)
n.12083C>T
c.12285C>T (p.Leu4095=)
c.12213C>T (p.Leu4071=)
c.12075C>T (p.Leu4025=)
c.10161C>T (p.Leu3387=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090564G>CCA7828743PKD1c.12165C>G (p.Leu4055=)
c.12162C>G (p.Leu4054=)
n.193C>G
c.9120C>G (p.Leu3040=)
c.12243C>G (p.Leu4081=)
c.12240C>G (p.Leu4080=)
c.12225C>G (p.Leu4075=)
c.12219C>G (p.Leu4073=)
c.12216C>G (p.Leu4072=)
c.12189C>G (p.Leu4063=)
c.12171C>G (p.Leu4057=)
c.12117C>G (p.Leu4039=)
c.12036C>G (p.Leu4012=)
c.11979C>G (p.Leu3993=)
c.10065C>G (p.Leu3355=)
c.9243C>G (p.Leu3081=)
n.12083C>G
c.12285C>G (p.Leu4095=)
c.12213C>G (p.Leu4071=)
c.12075C>G (p.Leu4025=)
c.10161C>G (p.Leu3387=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090564G=CA2202042081PKD1c.12165C= (p.Leu4055=)
c.12162C= (p.Leu4054=)
n.193C=
c.9120C= (p.Leu3040=)
c.12243C= (p.Leu4081=)
c.12240C= (p.Leu4080=)
c.12225C= (p.Leu4075=)
c.12219C= (p.Leu4073=)
c.12216C= (p.Leu4072=)
c.12189C= (p.Leu4063=)
c.12171C= (p.Leu4057=)
c.12117C= (p.Leu4039=)
c.12036C= (p.Leu4012=)
c.11979C= (p.Leu3993=)
c.10065C= (p.Leu3355=)
c.9243C= (p.Leu3081=)
n.12083C=
c.12285C= (p.Leu4095=)
c.12213C= (p.Leu4071=)
c.12075C= (p.Leu4025=)
c.10161C= (p.Leu3387=)
16g.2090564G>TCA493044319PKD1c.12165C>A (p.Leu4055=)
c.12162C>A (p.Leu4054=)
n.193C>A
c.9120C>A (p.Leu3040=)
c.12243C>A (p.Leu4081=)
c.12240C>A (p.Leu4080=)
c.12225C>A (p.Leu4075=)
c.12219C>A (p.Leu4073=)
c.12216C>A (p.Leu4072=)
c.12189C>A (p.Leu4063=)
c.12171C>A (p.Leu4057=)
c.12117C>A (p.Leu4039=)
c.12036C>A (p.Leu4012=)
c.11979C>A (p.Leu3993=)
c.10065C>A (p.Leu3355=)
c.9243C>A (p.Leu3081=)
n.12083C>A
c.12285C>A (p.Leu4095=)
c.12213C>A (p.Leu4071=)
c.12075C>A (p.Leu4025=)
c.10161C>A (p.Leu3387=)
 gnomAD v4
16g.2090567_2090570delCA2631135823PKD1c.12162_12165del (p.Leu4055GlyfsTer?)
c.12159_12162del (p.Leu4054GlyfsTer?)
n.190_193del
c.9117_9120del (p.Leu3040GlyfsTer?)
c.12240_12243del (p.Leu4081GlyfsTer?)
c.12237_12240del (p.Leu4080GlyfsTer?)
c.12222_12225del (p.Leu4075GlyfsTer?)
c.12216_12219del (p.Leu4073GlyfsTer?)
c.12213_12216del (p.Leu4072GlyfsTer?)
c.12186_12189del (p.Leu4063GlyfsTer?)
c.12168_12171del (p.Leu4057GlyfsTer?)
c.12114_12117del (p.Leu4039GlyfsTer?)
c.12033_12036del (p.Leu4012GlyfsTer?)
c.11976_11979del (p.Leu3993GlyfsTer?)
c.10062_10065del (p.Leu3355GlyfsTer?)
c.9240_9243del (p.Leu3081GlyfsTer?)
n.12080_12083del
c.12282_12285del (p.Leu4095GlyfsTer?)
c.12210_12213del (p.Leu4071GlyfsTer?)
c.12072_12075del (p.Leu4025GlyfsTer?)
c.10158_10161del (p.Leu3387GlyfsTer?)
 gnomAD v4
16g.2090565A>CCA394326671PKD1c.12164T>G (p.Leu4055Arg)
c.12161T>G (p.Leu4054Arg)
n.192T>G
c.9119T>G (p.Leu3040Arg)
c.12242T>G (p.Leu4081Arg)
c.12239T>G (p.Leu4080Arg)
c.12224T>G (p.Leu4075Arg)
c.12218T>G (p.Leu4073Arg)
c.12215T>G (p.Leu4072Arg)
c.12188T>G (p.Leu4063Arg)
c.12170T>G (p.Leu4057Arg)
c.12116T>G (p.Leu4039Arg)
c.12035T>G (p.Leu4012Arg)
c.11978T>G (p.Leu3993Arg)
c.10064T>G (p.Leu3355Arg)
c.9242T>G (p.Leu3081Arg)
n.12082T>G
c.12284T>G (p.Leu4095Arg)
c.12212T>G (p.Leu4071Arg)
c.12074T>G (p.Leu4025Arg)
c.10160T>G (p.Leu3387Arg)
16g.2090565A>GCA394326666PKD1c.12164T>C (p.Leu4055Pro)
c.12161T>C (p.Leu4054Pro)
n.192T>C
c.9119T>C (p.Leu3040Pro)
c.12242T>C (p.Leu4081Pro)
c.12239T>C (p.Leu4080Pro)
c.12224T>C (p.Leu4075Pro)
c.12218T>C (p.Leu4073Pro)
c.12215T>C (p.Leu4072Pro)
c.12188T>C (p.Leu4063Pro)
c.12170T>C (p.Leu4057Pro)
c.12116T>C (p.Leu4039Pro)
c.12035T>C (p.Leu4012Pro)
c.11978T>C (p.Leu3993Pro)
c.10064T>C (p.Leu3355Pro)
c.9242T>C (p.Leu3081Pro)
n.12082T>C
c.12284T>C (p.Leu4095Pro)
c.12212T>C (p.Leu4071Pro)
c.12074T>C (p.Leu4025Pro)
c.10160T>C (p.Leu3387Pro)
16g.2090565A>TCA394326668PKD1c.12164T>A (p.Leu4055His)
c.12161T>A (p.Leu4054His)
n.192T>A
c.9119T>A (p.Leu3040His)
c.12242T>A (p.Leu4081His)
c.12239T>A (p.Leu4080His)
c.12224T>A (p.Leu4075His)
c.12218T>A (p.Leu4073His)
c.12215T>A (p.Leu4072His)
c.12188T>A (p.Leu4063His)
c.12170T>A (p.Leu4057His)
c.12116T>A (p.Leu4039His)
c.12035T>A (p.Leu4012His)
c.11978T>A (p.Leu3993His)
c.10064T>A (p.Leu3355His)
c.9242T>A (p.Leu3081His)
n.12082T>A
c.12284T>A (p.Leu4095His)
c.12212T>A (p.Leu4071His)
c.12074T>A (p.Leu4025His)
c.10160T>A (p.Leu3387His)
16g.2090565dupCA2695221570PKD1c.12164dup (p.Trp4056LeufsTer?)
c.12161dup (p.Trp4055LeufsTer?)
n.192dup
c.9119dup (p.Trp3041LeufsTer?)
c.12242dup (p.Trp4082LeufsTer?)
c.12239dup (p.Trp4081LeufsTer?)
c.12224dup (p.Trp4076LeufsTer?)
c.12218dup (p.Trp4074LeufsTer?)
c.12215dup (p.Trp4073LeufsTer?)
c.12188dup (p.Trp4064LeufsTer?)
c.12170dup (p.Trp4058LeufsTer?)
c.12116dup (p.Trp4040LeufsTer?)
c.12035dup (p.Trp4013LeufsTer?)
c.11978dup (p.Trp3994LeufsTer?)
c.10064dup (p.Trp3356LeufsTer?)
c.9242dup (p.Trp3082LeufsTer?)
n.12082dup
c.12284dup (p.Trp4096LeufsTer?)
c.12212dup (p.Trp4072LeufsTer?)
c.12074dup (p.Trp4026LeufsTer?)
c.10160dup (p.Trp3388LeufsTer?)
16g.2090566G>ACA394326673PKD1c.12163C>T (p.Leu4055Phe)
c.12160C>T (p.Leu4054Phe)
n.191C>T
c.9118C>T (p.Leu3040Phe)
c.12241C>T (p.Leu4081Phe)
c.12238C>T (p.Leu4080Phe)
c.12223C>T (p.Leu4075Phe)
c.12217C>T (p.Leu4073Phe)
c.12214C>T (p.Leu4072Phe)
c.12187C>T (p.Leu4063Phe)
c.12169C>T (p.Leu4057Phe)
c.12115C>T (p.Leu4039Phe)
c.12034C>T (p.Leu4012Phe)
c.11977C>T (p.Leu3993Phe)
c.10063C>T (p.Leu3355Phe)
c.9241C>T (p.Leu3081Phe)
n.12081C>T
c.12283C>T (p.Leu4095Phe)
c.12211C>T (p.Leu4071Phe)
c.12073C>T (p.Leu4025Phe)
c.10159C>T (p.Leu3387Phe)
 dbSNP gnomAD v4
16g.2090566G>CCA394326675PKD1c.12163C>G (p.Leu4055Val)
c.12160C>G (p.Leu4054Val)
n.191C>G
c.9118C>G (p.Leu3040Val)
c.12241C>G (p.Leu4081Val)
c.12238C>G (p.Leu4080Val)
c.12223C>G (p.Leu4075Val)
c.12217C>G (p.Leu4073Val)
c.12214C>G (p.Leu4072Val)
c.12187C>G (p.Leu4063Val)
c.12169C>G (p.Leu4057Val)
c.12115C>G (p.Leu4039Val)
c.12034C>G (p.Leu4012Val)
c.11977C>G (p.Leu3993Val)
c.10063C>G (p.Leu3355Val)
c.9241C>G (p.Leu3081Val)
n.12081C>G
c.12283C>G (p.Leu4095Val)
c.12211C>G (p.Leu4071Val)
c.12073C>G (p.Leu4025Val)
c.10159C>G (p.Leu3387Val)
16g.2090566G=CA2202042084PKD1c.12163C= (p.Leu4055=)
c.12160C= (p.Leu4054=)
n.191C=
c.9118C= (p.Leu3040=)
c.12241C= (p.Leu4081=)
c.12238C= (p.Leu4080=)
c.12223C= (p.Leu4075=)
c.12217C= (p.Leu4073=)
c.12214C= (p.Leu4072=)
c.12187C= (p.Leu4063=)
c.12169C= (p.Leu4057=)
c.12115C= (p.Leu4039=)
c.12034C= (p.Leu4012=)
c.11977C= (p.Leu3993=)
c.10063C= (p.Leu3355=)
c.9241C= (p.Leu3081=)
n.12081C=
c.12283C= (p.Leu4095=)
c.12211C= (p.Leu4071=)
c.12073C= (p.Leu4025=)
c.10159C= (p.Leu3387=)
16g.2090566G>TCA394326677PKD1c.12163C>A (p.Leu4055Ile)
c.12160C>A (p.Leu4054Ile)
n.191C>A
c.9118C>A (p.Leu3040Ile)
c.12241C>A (p.Leu4081Ile)
c.12238C>A (p.Leu4080Ile)
c.12223C>A (p.Leu4075Ile)
c.12217C>A (p.Leu4073Ile)
c.12214C>A (p.Leu4072Ile)
c.12187C>A (p.Leu4063Ile)
c.12169C>A (p.Leu4057Ile)
c.12115C>A (p.Leu4039Ile)
c.12034C>A (p.Leu4012Ile)
c.11977C>A (p.Leu3993Ile)
c.10063C>A (p.Leu3355Ile)
c.9241C>A (p.Leu3081Ile)
n.12081C>A
c.12283C>A (p.Leu4095Ile)
c.12211C>A (p.Leu4071Ile)
c.12073C>A (p.Leu4025Ile)
c.10159C>A (p.Leu3387Ile)
 gnomAD v4
16g.2090568delCA2695221571PKD1c.12163del (p.Leu4055SerfsTer?)
c.12160del (p.Leu4054SerfsTer?)
n.191del
c.9118del (p.Leu3040SerfsTer?)
c.12241del (p.Leu4081SerfsTer?)
c.12238del (p.Leu4080SerfsTer?)
c.12223del (p.Leu4075SerfsTer?)
c.12217del (p.Leu4073SerfsTer?)
c.12214del (p.Leu4072SerfsTer?)
c.12187del (p.Leu4063SerfsTer?)
c.12169del (p.Leu4057SerfsTer?)
c.12115del (p.Leu4039SerfsTer?)
c.12034del (p.Leu4012SerfsTer?)
c.11977del (p.Leu3993SerfsTer?)
c.10063del (p.Leu3355SerfsTer?)
c.9241del (p.Leu3081SerfsTer?)
n.12081del
c.12283del (p.Leu4095SerfsTer?)
c.12211del (p.Leu4071SerfsTer?)
c.12073del (p.Leu4025SerfsTer?)
c.10159del (p.Leu3387SerfsTer?)
16g.2090567G>ACA7828744PKD1c.12162C>T (p.Ser4054=)
c.12159C>T (p.Ser4053=)
n.190C>T
c.9117C>T (p.Ser3039=)
c.12240C>T (p.Ser4080=)
c.12237C>T (p.Ser4079=)
c.12222C>T (p.Ser4074=)
c.12216C>T (p.Ser4072=)
c.12213C>T (p.Ser4071=)
c.12186C>T (p.Ser4062=)
c.12168C>T (p.Ser4056=)
c.12114C>T (p.Ser4038=)
c.12033C>T (p.Ser4011=)
c.11976C>T (p.Ser3992=)
c.10062C>T (p.Ser3354=)
c.9240C>T (p.Ser3080=)
n.12080C>T
c.12282C>T (p.Ser4094=)
c.12210C>T (p.Ser4070=)
c.12072C>T (p.Ser4024=)
c.10158C>T (p.Ser3386=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090567G>CCA493044322PKD1c.12162C>G (p.Ser4054=)
c.12159C>G (p.Ser4053=)
n.190C>G
c.9117C>G (p.Ser3039=)
c.12240C>G (p.Ser4080=)
c.12237C>G (p.Ser4079=)
c.12222C>G (p.Ser4074=)
c.12216C>G (p.Ser4072=)
c.12213C>G (p.Ser4071=)
c.12186C>G (p.Ser4062=)
c.12168C>G (p.Ser4056=)
c.12114C>G (p.Ser4038=)
c.12033C>G (p.Ser4011=)
c.11976C>G (p.Ser3992=)
c.10062C>G (p.Ser3354=)
c.9240C>G (p.Ser3080=)
n.12080C>G
c.12282C>G (p.Ser4094=)
c.12210C>G (p.Ser4070=)
c.12072C>G (p.Ser4024=)
c.10158C>G (p.Ser3386=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2090567G=CA2202042086PKD1c.12162C= (p.Ser4054=)
c.12159C= (p.Ser4053=)
n.190C=
c.9117C= (p.Ser3039=)
c.12240C= (p.Ser4080=)
c.12237C= (p.Ser4079=)
c.12222C= (p.Ser4074=)
c.12216C= (p.Ser4072=)
c.12213C= (p.Ser4071=)
c.12186C= (p.Ser4062=)
c.12168C= (p.Ser4056=)
c.12114C= (p.Ser4038=)
c.12033C= (p.Ser4011=)
c.11976C= (p.Ser3992=)
c.10062C= (p.Ser3354=)
c.9240C= (p.Ser3080=)
n.12080C=
c.12282C= (p.Ser4094=)
c.12210C= (p.Ser4070=)
c.12072C= (p.Ser4024=)
c.10158C= (p.Ser3386=)
16g.2090567G>TCA493044323PKD1c.12162C>A (p.Ser4054=)
c.12159C>A (p.Ser4053=)
n.190C>A
c.9117C>A (p.Ser3039=)
c.12240C>A (p.Ser4080=)
c.12237C>A (p.Ser4079=)
c.12222C>A (p.Ser4074=)
c.12216C>A (p.Ser4072=)
c.12213C>A (p.Ser4071=)
c.12186C>A (p.Ser4062=)
c.12168C>A (p.Ser4056=)
c.12114C>A (p.Ser4038=)
c.12033C>A (p.Ser4011=)
c.11976C>A (p.Ser3992=)
c.10062C>A (p.Ser3354=)
c.9240C>A (p.Ser3080=)
n.12080C>A
c.12282C>A (p.Ser4094=)
c.12210C>A (p.Ser4070=)
c.12072C>A (p.Ser4024=)
c.10158C>A (p.Ser3386=)
 gnomAD v4
16g.2090568G>ACA7828745PKD1c.12161C>T (p.Ser4054Phe)
c.12158C>T (p.Ser4053Phe)
n.189C>T
c.9116C>T (p.Ser3039Phe)
c.12239C>T (p.Ser4080Phe)
c.12236C>T (p.Ser4079Phe)
c.12221C>T (p.Ser4074Phe)
c.12215C>T (p.Ser4072Phe)
c.12212C>T (p.Ser4071Phe)
c.12185C>T (p.Ser4062Phe)
c.12167C>T (p.Ser4056Phe)
c.12113C>T (p.Ser4038Phe)
c.12032C>T (p.Ser4011Phe)
c.11975C>T (p.Ser3992Phe)
c.10061C>T (p.Ser3354Phe)
c.9239C>T (p.Ser3080Phe)
n.12079C>T
c.12281C>T (p.Ser4094Phe)
c.12209C>T (p.Ser4070Phe)
c.12071C>T (p.Ser4024Phe)
c.10157C>T (p.Ser3386Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2090568G>CCA394326683PKD1c.12161C>G (p.Ser4054Cys)
c.12158C>G (p.Ser4053Cys)
n.189C>G
c.9116C>G (p.Ser3039Cys)
c.12239C>G (p.Ser4080Cys)
c.12236C>G (p.Ser4079Cys)
c.12221C>G (p.Ser4074Cys)
c.12215C>G (p.Ser4072Cys)
c.12212C>G (p.Ser4071Cys)
c.12185C>G (p.Ser4062Cys)
c.12167C>G (p.Ser4056Cys)
c.12113C>G (p.Ser4038Cys)
c.12032C>G (p.Ser4011Cys)
c.11975C>G (p.Ser3992Cys)
c.10061C>G (p.Ser3354Cys)
c.9239C>G (p.Ser3080Cys)
n.12079C>G
c.12281C>G (p.Ser4094Cys)
c.12209C>G (p.Ser4070Cys)
c.12071C>G (p.Ser4024Cys)
c.10157C>G (p.Ser3386Cys)
16g.2090568G=CA2202042087PKD1c.12161C= (p.Ser4054=)
c.12158C= (p.Ser4053=)
n.189C=
c.9116C= (p.Ser3039=)
c.12239C= (p.Ser4080=)
c.12236C= (p.Ser4079=)
c.12221C= (p.Ser4074=)
c.12215C= (p.Ser4072=)
c.12212C= (p.Ser4071=)
c.12185C= (p.Ser4062=)
c.12167C= (p.Ser4056=)
c.12113C= (p.Ser4038=)
c.12032C= (p.Ser4011=)
c.11975C= (p.Ser3992=)
c.10061C= (p.Ser3354=)
c.9239C= (p.Ser3080=)
n.12079C=
c.12281C= (p.Ser4094=)
c.12209C= (p.Ser4070=)
c.12071C= (p.Ser4024=)
c.10157C= (p.Ser3386=)
16g.2090568G>TCA7828746PKD1c.12161C>A (p.Ser4054Tyr)
c.12158C>A (p.Ser4053Tyr)
n.189C>A
c.9116C>A (p.Ser3039Tyr)
c.12239C>A (p.Ser4080Tyr)
c.12236C>A (p.Ser4079Tyr)
c.12221C>A (p.Ser4074Tyr)
c.12215C>A (p.Ser4072Tyr)
c.12212C>A (p.Ser4071Tyr)
c.12185C>A (p.Ser4062Tyr)
c.12167C>A (p.Ser4056Tyr)
c.12113C>A (p.Ser4038Tyr)
c.12032C>A (p.Ser4011Tyr)
c.11975C>A (p.Ser3992Tyr)
c.10061C>A (p.Ser3354Tyr)
c.9239C>A (p.Ser3080Tyr)
n.12079C>A
c.12281C>A (p.Ser4094Tyr)
c.12209C>A (p.Ser4070Tyr)
c.12071C>A (p.Ser4024Tyr)
c.10157C>A (p.Ser3386Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched