Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.52025225_52025236delCA658823232PKHD1c.4577_4588del (p.Cys1526_Thr1529del)
c.4102-167_4102-156del (n.4102-167_4102-156del)
c.3866_3877del (p.Cys1289_Thr1292del)
c.4502_4513del (p.Cys1501_Thr1504del)
c.4313_4324del (p.Cys1438_Thr1441del)
c.2717_2728del (p.Cys906_Thr909del)
n.4853_4864del
ClinVar dbSNP
6g.52025235_52025236delinsAGCA1628647398PKHD1c.4574_4575delinsCT (p.Pro1525=)
c.4102-170_4102-169delinsCT (n.4102-170_4102-169delinsCT)
c.3863_3864delinsCT (p.Pro1288=)
c.4499_4500delinsCT (p.Pro1500=)
c.4310_4311delinsCT (p.Pro1437=)
c.2714_2715delinsCT (p.Pro905=)
n.4850_4851delinsCT
6g.52025236G>ACA364432345PKHD1c.4574C>T (p.Pro1525Leu)
c.4102-170C>T (n.4102-170C>T)
c.3863C>T (p.Pro1288Leu)
c.4499C>T (p.Pro1500Leu)
c.4310C>T (p.Pro1437Leu)
c.2714C>T (p.Pro905Leu)
n.4850C>T
6g.52025236G>CCA364432347PKHD1c.4574C>G (p.Pro1525Arg)
c.4102-170C>G (n.4102-170C>G)
c.3863C>G (p.Pro1288Arg)
c.4499C>G (p.Pro1500Arg)
c.4310C>G (p.Pro1437Arg)
c.2714C>G (p.Pro905Arg)
n.4850C>G
6g.52025236G>TCA364432348PKHD1c.4574C>A (p.Pro1525His)
c.4102-170C>A (n.4102-170C>A)
c.3863C>A (p.Pro1288His)
c.4499C>A (p.Pro1500His)
c.4310C>A (p.Pro1437His)
c.2714C>A (p.Pro905His)
n.4850C>A
6g.52025237delCA16041054PKHD1c.4574del (p.Pro1525LeufsTer4)
c.4102-170del (n.4102-170del)
c.3863del (p.Pro1288LeufsTer4)
c.4499del (p.Pro1500LeufsTer4)
c.4310del (p.Pro1437LeufsTer4)
c.2714del (p.Pro905LeufsTer4)
n.4850del
ClinVar dbSNP gnomAD v4
6g.52025237G>ACA364432356PKHD1c.4573C>T (p.Pro1525Ser)
c.4102-171C>T (n.4102-171C>T)
c.3862C>T (p.Pro1288Ser)
c.4498C>T (p.Pro1500Ser)
c.4309C>T (p.Pro1437Ser)
c.2713C>T (p.Pro905Ser)
n.4849C>T
COSMIC COSMIC
6g.52025237G>CCA364432361PKHD1c.4573C>G (p.Pro1525Ala)
c.4102-171C>G (n.4102-171C>G)
c.3862C>G (p.Pro1288Ala)
c.4498C>G (p.Pro1500Ala)
c.4309C>G (p.Pro1437Ala)
c.2713C>G (p.Pro905Ala)
n.4849C>G
6g.52025237G>TCA364432358PKHD1c.4573C>A (p.Pro1525Thr)
c.4102-171C>A (n.4102-171C>A)
c.3862C>A (p.Pro1288Thr)
c.4498C>A (p.Pro1500Thr)
c.4309C>A (p.Pro1437Thr)
c.2713C>A (p.Pro905Thr)
n.4849C>A
6g.52025238A=CA1628647402PKHD1c.4572T= (p.Leu1524=)
c.4102-172T= (n.4102-172T=)
c.3861T= (p.Leu1287=)
c.4497T= (p.Leu1499=)
c.4308T= (p.Leu1436=)
c.2712T= (p.Leu904=)
n.4848T=
6g.52025238A>CCA138946719PKHD1c.4572T>G (p.Leu1524=)
c.4102-172T>G (n.4102-172T>G)
c.3861T>G (p.Leu1287=)
c.4497T>G (p.Leu1499=)
c.4308T>G (p.Leu1436=)
c.2712T>G (p.Leu904=)
n.4848T>G
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.52025238A>GCA138946723PKHD1c.4572T>C (p.Leu1524=)
c.4102-172T>C (n.4102-172T>C)
c.3861T>C (p.Leu1287=)
c.4497T>C (p.Leu1499=)
c.4308T>C (p.Leu1436=)
c.2712T>C (p.Leu904=)
n.4848T>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52025238A>TCA450614394PKHD1c.4572T>A (p.Leu1524=)
c.4102-172T>A (n.4102-172T>A)
c.3861T>A (p.Leu1287=)
c.4497T>A (p.Leu1499=)
c.4308T>A (p.Leu1436=)
c.2712T>A (p.Leu904=)
n.4848T>A
6g.52025239delCA2578645392PKHD1c.4572del (p.Pro1525LeufsTer4)
c.4102-172del (n.4102-172del)
c.3861del (p.Pro1288LeufsTer4)
c.4497del (p.Pro1500LeufsTer4)
c.4308del (p.Pro1437LeufsTer4)
c.2712del (p.Pro905LeufsTer4)
n.4848del
6g.52025239A=CA1628647407PKHD1c.4571T= (p.Leu1524=)
c.4102-173T= (n.4102-173T=)
c.3860T= (p.Leu1287=)
c.4496T= (p.Leu1499=)
c.4307T= (p.Leu1436=)
c.2711T= (p.Leu904=)
n.4847T=
6g.52025239A>CCA3852698PKHD1c.4571T>G (p.Leu1524Arg)
c.4102-173T>G (n.4102-173T>G)
c.3860T>G (p.Leu1287Arg)
c.4496T>G (p.Leu1499Arg)
c.4307T>G (p.Leu1436Arg)
c.2711T>G (p.Leu904Arg)
n.4847T>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52025239A>GCA364432366PKHD1c.4571T>C (p.Leu1524Pro)
c.4102-173T>C (n.4102-173T>C)
c.3860T>C (p.Leu1287Pro)
c.4496T>C (p.Leu1499Pro)
c.4307T>C (p.Leu1436Pro)
c.2711T>C (p.Leu904Pro)
n.4847T>C
6g.52025239A>TCA364432368PKHD1c.4571T>A (p.Leu1524His)
c.4102-173T>A (n.4102-173T>A)
c.3860T>A (p.Leu1287His)
c.4496T>A (p.Leu1499His)
c.4307T>A (p.Leu1436His)
c.2711T>A (p.Leu904His)
n.4847T>A
6g.52025240G>ACA364432372PKHD1c.4570C>T (p.Leu1524Phe)
c.4102-174C>T (n.4102-174C>T)
c.3859C>T (p.Leu1287Phe)
c.4495C>T (p.Leu1499Phe)
c.4306C>T (p.Leu1436Phe)
c.2710C>T (p.Leu904Phe)
n.4846C>T
6g.52025240G>CCA364432376PKHD1c.4570C>G (p.Leu1524Val)
c.4102-174C>G (n.4102-174C>G)
c.3859C>G (p.Leu1287Val)
c.4495C>G (p.Leu1499Val)
c.4306C>G (p.Leu1436Val)
c.2710C>G (p.Leu904Val)
n.4846C>G
6g.52025240G>TCA364432374PKHD1c.4570C>A (p.Leu1524Ile)
c.4102-174C>A (n.4102-174C>A)
c.3859C>A (p.Leu1287Ile)
c.4495C>A (p.Leu1499Ile)
c.4306C>A (p.Leu1436Ile)
c.2710C>A (p.Leu904Ile)
n.4846C>A
6g.52025241T>ACA364432378PKHD1c.4569A>T (p.Gln1523His)
c.4102-175A>T (n.4102-175A>T)
c.3858A>T (p.Gln1286His)
c.4494A>T (p.Gln1498His)
c.4305A>T (p.Gln1435His)
c.2709A>T (p.Gln903His)
n.4845A>T
6g.52025241T>CCA450614397PKHD1c.4569A>G (p.Gln1523=)
c.4102-175A>G (n.4102-175A>G)
c.3858A>G (p.Gln1286=)
c.4494A>G (p.Gln1498=)
c.4305A>G (p.Gln1435=)
c.2709A>G (p.Gln903=)
n.4845A>G
6g.52025241T>GCA364432380PKHD1c.4569A>C (p.Gln1523His)
c.4102-175A>C (n.4102-175A>C)
c.3858A>C (p.Gln1286His)
c.4494A>C (p.Gln1498His)
c.4305A>C (p.Gln1435His)
c.2709A>C (p.Gln903His)
n.4845A>C
6g.52025242T>ACA364432384PKHD1c.4568A>T (p.Gln1523Leu)
c.4102-176A>T (n.4102-176A>T)
c.3857A>T (p.Gln1286Leu)
c.4493A>T (p.Gln1498Leu)
c.4304A>T (p.Gln1435Leu)
c.2708A>T (p.Gln903Leu)
n.4844A>T
6g.52025242T>CCA364432386PKHD1c.4568A>G (p.Gln1523Arg)
c.4102-176A>G (n.4102-176A>G)
c.3857A>G (p.Gln1286Arg)
c.4493A>G (p.Gln1498Arg)
c.4304A>G (p.Gln1435Arg)
c.2708A>G (p.Gln903Arg)
n.4844A>G
dbSNP
6g.52025242T>GCA364432388PKHD1c.4568A>C (p.Gln1523Pro)
c.4102-176A>C (n.4102-176A>C)
c.3857A>C (p.Gln1286Pro)
c.4493A>C (p.Gln1498Pro)
c.4304A>C (p.Gln1435Pro)
c.2708A>C (p.Gln903Pro)
n.4844A>C
6g.52025242T=CA1628647409PKHD1c.4568A= (p.Gln1523=)
c.4102-176A= (n.4102-176A=)
c.3857A= (p.Gln1286=)
c.4493A= (p.Gln1498=)
c.4304A= (p.Gln1435=)
c.2708A= (p.Gln903=)
n.4844A=
6g.52025243G>ACA364432390PKHD1c.4567C>T (p.Gln1523Ter)
c.4102-177C>T (n.4102-177C>T)
c.3856C>T (p.Gln1286Ter)
c.4492C>T (p.Gln1498Ter)
c.4303C>T (p.Gln1435Ter)
c.2707C>T (p.Gln903Ter)
n.4843C>T
6g.52025243G>CCA364432393PKHD1c.4567C>G (p.Gln1523Glu)
c.4102-177C>G (n.4102-177C>G)
c.3856C>G (p.Gln1286Glu)
c.4492C>G (p.Gln1498Glu)
c.4303C>G (p.Gln1435Glu)
c.2707C>G (p.Gln903Glu)
n.4843C>G
6g.52025243G>TCA364432395PKHD1c.4567C>A (p.Gln1523Lys)
c.4102-177C>A (n.4102-177C>A)
c.3856C>A (p.Gln1286Lys)
c.4492C>A (p.Gln1498Lys)
c.4303C>A (p.Gln1435Lys)
c.2707C>A (p.Gln903Lys)
n.4843C>A
6g.52025244A>CCA364432407PKHD1c.4566T>G (p.Asp1522Glu)
c.4102-178T>G (n.4102-178T>G)
c.3855T>G (p.Asp1285Glu)
c.4491T>G (p.Asp1497Glu)
c.4302T>G (p.Asp1434Glu)
c.2706T>G (p.Asp902Glu)
n.4842T>G
6g.52025244A>GCA450614401PKHD1c.4566T>C (p.Asp1522=)
c.4102-178T>C (n.4102-178T>C)
c.3855T>C (p.Asp1285=)
c.4491T>C (p.Asp1497=)
c.4302T>C (p.Asp1434=)
c.2706T>C (p.Asp902=)
n.4842T>C
6g.52025244A>TCA364432408PKHD1c.4566T>A (p.Asp1522Glu)
c.4102-178T>A (n.4102-178T>A)
c.3855T>A (p.Asp1285Glu)
c.4491T>A (p.Asp1497Glu)
c.4302T>A (p.Asp1434Glu)
c.2706T>A (p.Asp902Glu)
n.4842T>A
gnomAD v4
6g.52025245T>ACA364432410PKHD1c.4565A>T (p.Asp1522Val)
c.4102-179A>T (n.4102-179A>T)
c.3854A>T (p.Asp1285Val)
c.4490A>T (p.Asp1497Val)
c.4301A>T (p.Asp1434Val)
c.2705A>T (p.Asp902Val)
n.4841A>T
6g.52025245T>CCA364432413PKHD1c.4565A>G (p.Asp1522Gly)
c.4102-179A>G (n.4102-179A>G)
c.3854A>G (p.Asp1285Gly)
c.4490A>G (p.Asp1497Gly)
c.4301A>G (p.Asp1434Gly)
c.2705A>G (p.Asp902Gly)
n.4841A>G
6g.52025245T>GCA364432411PKHD1c.4565A>C (p.Asp1522Ala)
c.4102-179A>C (n.4102-179A>C)
c.3854A>C (p.Asp1285Ala)
c.4490A>C (p.Asp1497Ala)
c.4301A>C (p.Asp1434Ala)
c.2705A>C (p.Asp902Ala)
n.4841A>C
6g.52025246C>ACA364432415PKHD1c.4564G>T (p.Asp1522Tyr)
c.4102-180G>T (n.4102-180G>T)
c.3853G>T (p.Asp1285Tyr)
c.4489G>T (p.Asp1497Tyr)
c.4300G>T (p.Asp1434Tyr)
c.2704G>T (p.Asp902Tyr)
n.4840G>T
6g.52025246C>GCA364432419PKHD1c.4564G>C (p.Asp1522His)
c.4102-180G>C (n.4102-180G>C)
c.3853G>C (p.Asp1285His)
c.4489G>C (p.Asp1497His)
c.4300G>C (p.Asp1434His)
c.2704G>C (p.Asp902His)
n.4840G>C
6g.52025246C>TCA364432417PKHD1c.4564G>A (p.Asp1522Asn)
c.4102-180G>A (n.4102-180G>A)
c.3853G>A (p.Asp1285Asn)
c.4489G>A (p.Asp1497Asn)
c.4300G>A (p.Asp1434Asn)
c.2704G>A (p.Asp902Asn)
n.4840G>A
6g.52025247A>CCA364432421PKHD1c.4563T>G (p.Asp1521Glu)
c.4102-181T>G (n.4102-181T>G)
c.3852T>G (p.Asp1284Glu)
c.4488T>G (p.Asp1496Glu)
c.4299T>G (p.Asp1433Glu)
c.2703T>G (p.Asp901Glu)
n.4839T>G
6g.52025247A>GCA450614404PKHD1c.4563T>C (p.Asp1521=)
c.4102-181T>C (n.4102-181T>C)
c.3852T>C (p.Asp1284=)
c.4488T>C (p.Asp1496=)
c.4299T>C (p.Asp1433=)
c.2703T>C (p.Asp901=)
n.4839T>C
6g.52025247A>TCA364432423PKHD1c.4563T>A (p.Asp1521Glu)
c.4102-181T>A (n.4102-181T>A)
c.3852T>A (p.Asp1284Glu)
c.4488T>A (p.Asp1496Glu)
c.4299T>A (p.Asp1433Glu)
c.2703T>A (p.Asp901Glu)
n.4839T>A
6g.52025247_52025273delinsTCA2695198880PKHD1c.4537_4563delinsA (p.Ala1513ArgfsTer11)
c.4102-207_4102-181delinsA (n.4102-207_4102-181delinsA)
c.3826_3852delinsA (p.Ala1276ArgfsTer11)
c.4462_4488delinsA (p.Ala1488ArgfsTer11)
c.4273_4299delinsA (p.Ala1425ArgfsTer11)
c.2677_2703delinsA (p.Ala893ArgfsTer11)
n.4813_4839delinsA
6g.52025248T>ACA364432426PKHD1c.4562A>T (p.Asp1521Val)
c.4102-182A>T (n.4102-182A>T)
c.3851A>T (p.Asp1284Val)
c.4487A>T (p.Asp1496Val)
c.4298A>T (p.Asp1433Val)
c.2702A>T (p.Asp901Val)
n.4838A>T
6g.52025248T>CCA138946733PKHD1c.4562A>G (p.Asp1521Gly)
c.4102-182A>G (n.4102-182A>G)
c.3851A>G (p.Asp1284Gly)
c.4487A>G (p.Asp1496Gly)
c.4298A>G (p.Asp1433Gly)
c.2702A>G (p.Asp901Gly)
n.4838A>G
dbSNP gnomAD v3 gnomAD v4
6g.52025248T>GCA364432430PKHD1c.4562A>C (p.Asp1521Ala)
c.4102-182A>C (n.4102-182A>C)
c.3851A>C (p.Asp1284Ala)
c.4487A>C (p.Asp1496Ala)
c.4298A>C (p.Asp1433Ala)
c.2702A>C (p.Asp901Ala)
n.4838A>C
6g.52025248T=CA1628647415PKHD1c.4562A= (p.Asp1521=)
c.4102-182A= (n.4102-182A=)
c.3851A= (p.Asp1284=)
c.4487A= (p.Asp1496=)
c.4298A= (p.Asp1433=)
c.2702A= (p.Asp901=)
n.4838A=
6g.52025249C>ACA364432435PKHD1c.4561G>T (p.Asp1521Tyr)
c.4102-183G>T (n.4102-183G>T)
c.3850G>T (p.Asp1284Tyr)
c.4486G>T (p.Asp1496Tyr)
c.4297G>T (p.Asp1433Tyr)
c.2701G>T (p.Asp901Tyr)
n.4837G>T
6g.52025249C>GCA364432436PKHD1c.4561G>C (p.Asp1521His)
c.4102-183G>C (n.4102-183G>C)
c.3850G>C (p.Asp1284His)
c.4486G>C (p.Asp1496His)
c.4297G>C (p.Asp1433His)
c.2701G>C (p.Asp901His)
n.4837G>C

Number of alleles fetched