NM_138694.4(PKHD1):c.5236+14A>G
|
rs12210725
|
0.01912
|
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe)
|
rs45517932
|
0.00371
|
NM_138694.4(PKHD1):c.4920A>G (p.Val1640=)
|
rs142465959
|
0.00286
|
NM_138694.4(PKHD1):c.5100C>T (p.Thr1700=)
|
rs143717242
|
0.00178
|
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)
|
rs141103838
|
0.00056
|
NM_138694.4(PKHD1):c.4871G>A (p.Arg1624Gln)
|
rs190396031
|
0.00053
|
NM_138694.4(PKHD1):c.5235C>T (p.Phe1745=)
|
rs187667255
|
0.00028
|
NM_138694.4(PKHD1):c.4854C>T (p.Ile1618=)
|
rs140674740
|
0.00015
|
NM_138694.4(PKHD1):c.5093A>G (p.Asn1698Ser)
|
rs148108992
|
0.00014
|
NM_138694.4(PKHD1):c.4866C>A (p.Leu1622=)
|
rs571966529
|
0.00009
|
NM_138694.4(PKHD1):c.5145C>T (p.His1715=)
|
rs947392889
|
0.00009
|
NM_138694.4(PKHD1):c.5193G>A (p.Val1731=)
|
rs146531432
|
0.00009
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=)
|
rs202010726
|
0.00006
|
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu)
|
rs749294509
|
0.00006
|
NM_138694.4(PKHD1):c.4835C>A (p.Thr1612Asn)
|
rs754964877
|
0.00004
|
NM_138694.4(PKHD1):c.5082T>A (p.Gly1694=)
|
rs755698559
|
0.00004
|
NM_138694.4(PKHD1):c.4845G>A (p.Thr1615=)
|
rs750233738
|
0.00003
|
NM_138694.4(PKHD1):c.4855G>T (p.Gly1619Cys)
|
rs762702777
|
0.00003
|
NM_138694.4(PKHD1):c.5013C>T (p.Thr1671=)
|
rs549548712
|
0.00002
|
NM_138694.4(PKHD1):c.5218G>A (p.Ala1740Thr)
|
rs762972952
|
0.00002
|
NM_138694.4(PKHD1):c.4572T>C (p.Leu1524=)
|
rs749014649
|
0.00001
|
NM_138694.4(PKHD1):c.4605C>T (p.His1535=)
|
rs1156915554
|
0.00001
|
NM_138694.4(PKHD1):c.4647C>T (p.Tyr1549=)
|
rs761341768
|
0.00001
|
NM_138694.4(PKHD1):c.4653A>C (p.Ser1551=)
|
rs1293523388
|
0.00001
|
NM_138694.4(PKHD1):c.4770C>T (p.Leu1590=)
|
rs768093597
|
0.00001
|
NM_138694.4(PKHD1):c.4811C>T (p.Thr1604Met)
|
rs1370869109
|
0.00001
|
NM_138694.4(PKHD1):c.4838G>A (p.Cys1613Tyr)
|
rs375437755
|
0.00001
|
NM_138694.4(PKHD1):c.4904C>T (p.Ala1635Val)
|
rs1270680534
|
0.00001
|
NM_138694.4(PKHD1):c.4918G>A (p.Val1640Ile)
|
rs1396314967
|
0.00001
|
NM_138694.4(PKHD1):c.5046C>T (p.Asn1682=)
|
rs1176670371
|
0.00001
|
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr)
|
rs794727566
|
0.00001
|
NM_138694.4(PKHD1):c.5069C>T (p.Ser1690Leu)
|
rs1801882752
|
0.00001
|
NM_138694.4(PKHD1):c.5123C>A (p.Ser1708Tyr)
|
rs759619749
|
0.00001
|
NM_138694.4(PKHD1):c.5157T>C (p.Tyr1719=)
|
rs1292888938
|
0.00001
|
NM_138694.4(PKHD1):c.5160C>T (p.Asp1720=)
|
rs754333450
|
0.00001
|
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met)
|
rs137852946
|
0.00001
|
NM_138694.4(PKHD1):c.5226G>A (p.Thr1742=)
|
rs747933439
|
0.00001
|
NM_138694.4(PKHD1):c.5229G>A (p.Glu1743=)
|
rs768277731
|
0.00001
|
NM_138694.4(PKHD1):c.5231A>G (p.Asn1744Ser)
|
rs746705122
|
0.00001
|
NM_138694.4(PKHD1):c.4537_4563delinsA (p.Ala1513fs)
|
|
|
NM_138694.4(PKHD1):c.4572T>G (p.Leu1524=)
|
rs749014649
|
|
NM_138694.4(PKHD1):c.4574del (p.Pro1525fs)
|
rs1057516691
|
|
NM_138694.4(PKHD1):c.4577_4588del (p.Cys1526_Thr1529del)
|
rs1554198521
|
|
NM_138694.4(PKHD1):c.4593del (p.Phe1531fs)
|
|
|
NM_138694.4(PKHD1):c.4593dup (p.Asn1532Ter)
|
rs1057516263
|
|
NM_138694.4(PKHD1):c.4611G>A (p.Val1537=)
|
rs2128143175
|
|
NM_138694.4(PKHD1):c.4614C>T (p.Cys1538=)
|
|
|
NM_138694.4(PKHD1):c.4620A>G (p.Thr1540=)
|
|
|
NM_138694.4(PKHD1):c.4632C>T (p.Ala1544=)
|
|
|
NM_138694.4(PKHD1):c.4638A>G (p.Gly1546=)
|
rs2128143082
|
|
NM_138694.4(PKHD1):c.4638A>T (p.Gly1546=)
|
|
|
NM_138694.4(PKHD1):c.4639C>T (p.Pro1547Ser)
|
|
|
NM_138694.4(PKHD1):c.4643_4644del (p.His1548fs)
|
|
|
NM_138694.4(PKHD1):c.4644_4653del (p.His1548fs)
|
|
|
NM_138694.4(PKHD1):c.4644del (p.Tyr1549fs)
|
rs2128143028
|
|
NM_138694.4(PKHD1):c.4649del (p.Leu1550fs)
|
|
|
NM_138694.4(PKHD1):c.4650G>A (p.Leu1550=)
|
rs2128142975
|
|
NM_138694.4(PKHD1):c.4660dup (p.Tyr1554fs)
|
rs1801949246
|
|
NM_138694.4(PKHD1):c.4665A>G (p.Thr1555=)
|
|
|
NM_138694.4(PKHD1):c.4666del (p.Arg1556fs)
|
|
|
NM_138694.4(PKHD1):c.4674G>A (p.Gly1558=)
|
rs943531478
|
|
NM_138694.4(PKHD1):c.4674G>T (p.Gly1558=)
|
|
|
NM_138694.4(PKHD1):c.4677T>A (p.Tyr1559Ter)
|
|
|
NM_138694.4(PKHD1):c.4682G>A (p.Cys1561Tyr)
|
|
|
NM_138694.4(PKHD1):c.4686T>C (p.Ser1562=)
|
rs2128142828
|
|
NM_138694.4(PKHD1):c.4698C>A (p.Ser1566=)
|
|
|
NM_138694.4(PKHD1):c.4698C>T (p.Ser1566=)
|
rs2128142795
|
|
NM_138694.4(PKHD1):c.4698del (p.Arg1567fs)
|
|
|
NM_138694.4(PKHD1):c.4701A>G (p.Arg1567=)
|
rs2128142789
|
|
NM_138694.4(PKHD1):c.4710C>T (p.Tyr1570=)
|
|
|
NM_138694.4(PKHD1):c.4719C>G (p.Pro1573=)
|
rs577804747
|
|
NM_138694.4(PKHD1):c.4719C>T (p.Pro1573=)
|
rs577804747
|
|
NM_138694.4(PKHD1):c.4722A>G (p.Gln1574=)
|
|
|
NM_138694.4(PKHD1):c.4733del (p.Tyr1578fs)
|
rs727504087
|
|
NM_138694.4(PKHD1):c.4751G>T (p.Ser1584Ile)
|
rs1197981811
|
|
NM_138694.4(PKHD1):c.4761T>C (p.Gly1587=)
|
|
|
NM_138694.4(PKHD1):c.4778_4779del (p.Ile1593fs)
|
rs2128142610
|
|
NM_138694.4(PKHD1):c.4785C>T (p.Gly1595=)
|
|
|
NM_138694.4(PKHD1):c.4792C>G (p.Leu1598Val)
|
rs1562162277
|
|
NM_138694.4(PKHD1):c.4794G>A (p.Leu1598=)
|
rs2128142547
|
|
NM_138694.4(PKHD1):c.4797A>G (p.Arg1599=)
|
rs2128142531
|
|
NM_138694.4(PKHD1):c.4806C>T (p.Asn1602=)
|
|
|
NM_138694.4(PKHD1):c.4812G>A (p.Thr1604=)
|
rs780533224
|
|
NM_138694.4(PKHD1):c.4816del (p.Val1606fs)
|
rs2128142490
|
|
NM_138694.4(PKHD1):c.4822_4823del (p.Tyr1607_Ile1608insTer)
|
rs1057516626
|
|
NM_138694.4(PKHD1):c.4827C>T (p.Asp1609=)
|
|
|
NM_138694.4(PKHD1):c.4836del (p.Cys1613fs)
|
rs2128142414
|
|
NM_138694.4(PKHD1):c.4838G>T (p.Cys1613Phe)
|
|
|
NM_138694.4(PKHD1):c.4839C>T (p.Cys1613=)
|
|
|
NM_138694.4(PKHD1):c.4840C>T (p.Leu1614=)
|
rs2128142388
|
|
NM_138694.4(PKHD1):c.4844C>T (p.Thr1615Met)
|
rs147529495
|
|
NM_138694.4(PKHD1):c.4854C>A (p.Ile1618=)
|
|
|
NM_138694.4(PKHD1):c.4870C>A (p.Arg1624=)
|
|
|
NM_138694.4(PKHD1):c.4880T>C (p.Val1627Ala)
|
|
|
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala)
|
rs267601070
|
|
NM_138694.4(PKHD1):c.4885A>G (p.Thr1629Ala)
|
|
|
NM_138694.4(PKHD1):c.4888G>A (p.Gly1630Arg)
|
|
|
NM_138694.4(PKHD1):c.4890del (p.Asn1631fs)
|
rs1057516885
|
|
NM_138694.4(PKHD1):c.4899T>C (p.Ser1633=)
|
rs2128142178
|
|
NM_138694.4(PKHD1):c.4914A>C (p.Ile1638=)
|
|
|
NM_138694.4(PKHD1):c.4920A>T (p.Val1640=)
|
|
|
NM_138694.4(PKHD1):c.4923T>C (p.Asp1641=)
|
|
|
NM_138694.4(PKHD1):c.4926_4932del (p.Leu1643fs)
|
rs2128142132
|
|
NM_138694.4(PKHD1):c.4932G>A (p.Trp1644Ter)
|
rs779028446
|
|
NM_138694.4(PKHD1):c.4944A>T (p.Gly1648=)
|
|
|
NM_138694.4(PKHD1):c.4956T>C (p.Tyr1652=)
|
|
|
NM_138694.4(PKHD1):c.4959C>T (p.Asn1653=)
|
rs2128142061
|
|
NM_138694.4(PKHD1):c.4971C>T (p.Thr1657=)
|
|
|
NM_138694.4(PKHD1):c.4973C>T (p.Pro1658Leu)
|
rs1554198203
|
|
NM_138694.4(PKHD1):c.4974A>G (p.Pro1658=)
|
|
|
NM_138694.4(PKHD1):c.4977A>G (p.Glu1659=)
|
rs2128142025
|
|
NM_138694.4(PKHD1):c.4980G>A (p.Leu1660=)
|
rs767061150
|
|
NM_138694.4(PKHD1):c.4990T>C (p.Ser1664Pro)
|
|
|
NM_138694.4(PKHD1):c.4991C>T (p.Ser1664Phe)
|
rs28937907
|
|
NM_138694.4(PKHD1):c.4993C>T (p.Gln1665Ter)
|
rs2128141956
|
|
NM_138694.4(PKHD1):c.4998C>T (p.Ser1666=)
|
rs374025329
|
|
NM_138694.4(PKHD1):c.4999G>A (p.Asp1667Asn)
|
|
|
NM_138694.4(PKHD1):c.5012C>G (p.Thr1671Ser)
|
rs1313759171
|
|
NM_138694.4(PKHD1):c.5023G>A (p.Ala1675Thr)
|
rs1801889887
|
|
NM_138694.4(PKHD1):c.5034A>G (p.Ser1678=)
|
rs1463161754
|
|
NM_138694.4(PKHD1):c.5043A>G (p.Ala1681=)
|
rs2128141801
|
|
NM_138694.4(PKHD1):c.5059A>G (p.Ile1687Val)
|
rs749029593
|
|
NM_138694.4(PKHD1):c.5060T>G (p.Ile1687Arg)
|
|
|
NM_138694.4(PKHD1):c.5064A>C (p.Gly1688=)
|
|
|
NM_138694.4(PKHD1):c.5065del (p.Met1689fs)
|
rs1554198072
|
|
NM_138694.4(PKHD1):c.5069C>A (p.Ser1690Ter)
|
rs1801882752
|
|
NM_138694.4(PKHD1):c.5075G>A (p.Cys1692Tyr)
|
|
|
NM_138694.4(PKHD1):c.5075G>C (p.Cys1692Ser)
|
|
|
NM_138694.4(PKHD1):c.5081_5094del (p.Gly1694fs)
|
|
|
NM_138694.4(PKHD1):c.5090G>A (p.Gly1697Asp)
|
rs752432638
|
|
NM_138694.4(PKHD1):c.5094C>A (p.Asn1698Lys)
|
|
|
NM_138694.4(PKHD1):c.5094C>T (p.Asn1698=)
|
rs754435223
|
|
NM_138694.4(PKHD1):c.5097C>T (p.His1699=)
|
rs2128141621
|
|
NM_138694.4(PKHD1):c.5100C>G (p.Thr1700=)
|
rs143717242
|
|
NM_138694.4(PKHD1):c.5115_5116insTATAAGAGACA (p.Val1706fs)
|
|
|
NM_138694.4(PKHD1):c.5116_5117insCATTTCTTATT (p.Val1706fs)
|
|
|
NM_138694.4(PKHD1):c.5117del (p.Val1706fs)
|
|
|
NM_138694.4(PKHD1):c.5118C>T (p.Val1706=)
|
|
|
NM_138694.4(PKHD1):c.5130G>T (p.Pro1710=)
|
rs769591140
|
|
NM_138694.4(PKHD1):c.5133C>G (p.Ala1711=)
|
rs144841026
|
|
NM_138694.4(PKHD1):c.5133C>T (p.Ala1711=)
|
rs144841026
|
|
NM_138694.4(PKHD1):c.5134G>C (p.Gly1712Arg)
|
|
|
NM_138694.4(PKHD1):c.5146G>T (p.Val1716Phe)
|
rs751058491
|
|
NM_138694.4(PKHD1):c.5149A>C (p.Arg1717=)
|
rs533522031
|
|
NM_138694.4(PKHD1):c.5151del (p.Gly1718fs)
|
|
|
NM_138694.4(PKHD1):c.5154C>T (p.Gly1718=)
|
|
|
NM_138694.4(PKHD1):c.5155dup (p.Tyr1719fs)
|
|
|
NM_138694.4(PKHD1):c.5156A>G (p.Tyr1719Cys)
|
|
|
NM_138694.4(PKHD1):c.5163C>T (p.Cys1721=)
|
|
|
NM_138694.4(PKHD1):c.5171G>T (p.Gly1724Val)
|
|
|
NM_138694.4(PKHD1):c.5172G>A (p.Gly1724=)
|
rs2128141485
|
|
NM_138694.4(PKHD1):c.5174G>C (p.Trp1725Ser)
|
|
|
NM_138694.4(PKHD1):c.5178C>G (p.Ala1726=)
|
|
|
NM_138694.4(PKHD1):c.5181A>T (p.Ser1727=)
|
rs2128141454
|
|
NM_138694.4(PKHD1):c.5187C>G (p.Ala1729=)
|
|
|
NM_138694.4(PKHD1):c.5187C>T (p.Ala1729=)
|
|
|
NM_138694.4(PKHD1):c.5196C>T (p.Phe1732=)
|
rs2128141429
|
|
NM_138694.4(PKHD1):c.5199C>A (p.Thr1733=)
|
rs148790132
|
|
NM_138694.4(PKHD1):c.5199C>T (p.Thr1733=)
|
rs148790132
|
|
NM_138694.4(PKHD1):c.5204delinsTGTCTT (p.Arg1735fs)
|
|
|
NM_138694.4(PKHD1):c.5230A>C (p.Asn1744His)
|
rs2128141336
|
|
NM_138694.4(PKHD1):c.5236+10G>A
|
rs2128141304
|
|
NM_138694.4(PKHD1):c.5236+17A>C
|
|
|
NM_138694.4(PKHD1):c.5236+1G>A
|
rs398124487
|
|
NM_138694.4(PKHD1):c.5236+1G>C
|
|
|
NM_138694.4(PKHD1):c.5236+20C>T
|
|
|
NM_138694.4(PKHD1):c.5236+2T>C
|
|
|
NM_138694.4(PKHD1):c.5236+31_5236+34del
|
rs547420704
|
|
NM_138694.4(PKHD1):c.5236+7C>A
|
rs2128141306
|
|
NM_138694.4(PKHD1):c.5236+9A>G
|
|
|
NM_138694.4(PKHD1):c.5236G>A (p.Gly1746Ser)
|
|
|
NM_138694.4(PKHD1):c.5236G>C (p.Gly1746Arg)
|
rs745387993
|
|