Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51912294_51912313delCA2597194017PKHD1c.6332+66_6332+85del (n.6332+66_6332+85del)
c.5690+66_5690+85del (n.5690+66_5690+85del)
c.5621+66_5621+85del (n.5621+66_5621+85del)
c.407+66_407+85del (n.407+66_407+85del)
c.6257+66_6257+85del (n.6257+66_6257+85del)
c.6068+66_6068+85del (n.6068+66_6068+85del)
c.4472+66_4472+85del (n.4472+66_4472+85del)
n.6608+66_6608+85del
 gnomAD v3 gnomAD v4
6g.51912310T>ACA567636193PKHD1c.6332+56A>T (n.6332+56A>T)
c.5690+56A>T (n.5690+56A>T)
c.5621+56A>T (n.5621+56A>T)
c.407+56A>T (n.407+56A>T)
c.6257+56A>T (n.6257+56A>T)
c.6068+56A>T (n.6068+56A>T)
c.4472+56A>T (n.4472+56A>T)
n.6608+56A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51912310T>GCA138910775PKHD1c.6332+56A>C (n.6332+56A>C)
c.5690+56A>C (n.5690+56A>C)
c.5621+56A>C (n.5621+56A>C)
c.407+56A>C (n.407+56A>C)
c.6257+56A>C (n.6257+56A>C)
c.6068+56A>C (n.6068+56A>C)
c.4472+56A>C (n.4472+56A>C)
n.6608+56A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51912310T=CA1628583238PKHD1c.6332+56A= (n.6332+56A=)
c.5690+56A= (n.5690+56A=)
c.5621+56A= (n.5621+56A=)
c.407+56A= (n.407+56A=)
c.6257+56A= (n.6257+56A=)
c.6068+56A= (n.6068+56A=)
c.4472+56A= (n.4472+56A=)
n.6608+56A=
6g.51912311A=CA1628583240PKHD1c.6332+55T= (n.6332+55T=)
c.5690+55T= (n.5690+55T=)
c.5621+55T= (n.5621+55T=)
c.407+55T= (n.407+55T=)
c.6257+55T= (n.6257+55T=)
c.6068+55T= (n.6068+55T=)
c.4472+55T= (n.4472+55T=)
n.6608+55T=
6g.51912311A>CCA2679081896PKHD1c.6332+55T>G (n.6332+55T>G)
c.5690+55T>G (n.5690+55T>G)
c.5621+55T>G (n.5621+55T>G)
c.407+55T>G (n.407+55T>G)
c.6257+55T>G (n.6257+55T>G)
c.6068+55T>G (n.6068+55T>G)
c.4472+55T>G (n.4472+55T>G)
n.6608+55T>G
 gnomAD v4
6g.51912311A>GCA1628583241PKHD1c.6332+55T>C (n.6332+55T>C)
c.5690+55T>C (n.5690+55T>C)
c.5621+55T>C (n.5621+55T>C)
c.407+55T>C (n.407+55T>C)
c.6257+55T>C (n.6257+55T>C)
c.6068+55T>C (n.6068+55T>C)
c.4472+55T>C (n.4472+55T>C)
n.6608+55T>C
 dbSNP
6g.51912312C>ACA2679081897PKHD1c.6332+54G>T (n.6332+54G>T)
c.5690+54G>T (n.5690+54G>T)
c.5621+54G>T (n.5621+54G>T)
c.407+54G>T (n.407+54G>T)
c.6257+54G>T (n.6257+54G>T)
c.6068+54G>T (n.6068+54G>T)
c.4472+54G>T (n.4472+54G>T)
n.6608+54G>T
 gnomAD v4
6g.51912312C=CA1628583243PKHD1c.6332+54G= (n.6332+54G=)
c.5690+54G= (n.5690+54G=)
c.5621+54G= (n.5621+54G=)
c.407+54G= (n.407+54G=)
c.6257+54G= (n.6257+54G=)
c.6068+54G= (n.6068+54G=)
c.4472+54G= (n.4472+54G=)
n.6608+54G=
6g.51912312C>TCA138910778PKHD1c.6332+54G>A (n.6332+54G>A)
c.5690+54G>A (n.5690+54G>A)
c.5621+54G>A (n.5621+54G>A)
c.407+54G>A (n.407+54G>A)
c.6257+54G>A (n.6257+54G>A)
c.6068+54G>A (n.6068+54G>A)
c.4472+54G>A (n.4472+54G>A)
n.6608+54G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51912314G>TCA2578667764PKHD1c.6332+52C>A (n.6332+52C>A)
c.5690+52C>A (n.5690+52C>A)
c.5621+52C>A (n.5621+52C>A)
c.407+52C>A (n.407+52C>A)
c.6257+52C>A (n.6257+52C>A)
c.6068+52C>A (n.6068+52C>A)
c.4472+52C>A (n.4472+52C>A)
n.6608+52C>A
 gnomAD v4
6g.51912315T>GCA2679081898PKHD1c.6332+51A>C (n.6332+51A>C)
c.5690+51A>C (n.5690+51A>C)
c.5621+51A>C (n.5621+51A>C)
c.407+51A>C (n.407+51A>C)
c.6257+51A>C (n.6257+51A>C)
c.6068+51A>C (n.6068+51A>C)
c.4472+51A>C (n.4472+51A>C)
n.6608+51A>C
 gnomAD v4
6g.51912316T>CCA1628583245PKHD1c.6332+50A>G (n.6332+50A>G)
c.5690+50A>G (n.5690+50A>G)
c.5621+50A>G (n.5621+50A>G)
c.407+50A>G (n.407+50A>G)
c.6257+50A>G (n.6257+50A>G)
c.6068+50A>G (n.6068+50A>G)
c.4472+50A>G (n.4472+50A>G)
n.6608+50A>G
 dbSNP gnomAD v4
6g.51912316T=CA1628583244PKHD1c.6332+50A= (n.6332+50A=)
c.5690+50A= (n.5690+50A=)
c.5621+50A= (n.5621+50A=)
c.407+50A= (n.407+50A=)
c.6257+50A= (n.6257+50A=)
c.6068+50A= (n.6068+50A=)
c.4472+50A= (n.4472+50A=)
n.6608+50A=
6g.51912317A=CA1628583246PKHD1c.6332+49T= (n.6332+49T=)
c.5690+49T= (n.5690+49T=)
c.5621+49T= (n.5621+49T=)
c.407+49T= (n.407+49T=)
c.6257+49T= (n.6257+49T=)
c.6068+49T= (n.6068+49T=)
c.4472+49T= (n.4472+49T=)
n.6608+49T=
6g.51912317A>GCA3852290PKHD1c.6332+49T>C (n.6332+49T>C)
c.5690+49T>C (n.5690+49T>C)
c.5621+49T>C (n.5621+49T>C)
c.407+49T>C (n.407+49T>C)
c.6257+49T>C (n.6257+49T>C)
c.6068+49T>C (n.6068+49T>C)
c.4472+49T>C (n.4472+49T>C)
n.6608+49T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51912317A>TCA2578667765PKHD1c.6332+49T>A (n.6332+49T>A)
c.5690+49T>A (n.5690+49T>A)
c.5621+49T>A (n.5621+49T>A)
c.407+49T>A (n.407+49T>A)
c.6257+49T>A (n.6257+49T>A)
c.6068+49T>A (n.6068+49T>A)
c.4472+49T>A (n.4472+49T>A)
n.6608+49T>A
 gnomAD v4
6g.51912319G>TCA2679081899PKHD1c.6332+47C>A (n.6332+47C>A)
c.5690+47C>A (n.5690+47C>A)
c.5621+47C>A (n.5621+47C>A)
c.407+47C>A (n.407+47C>A)
c.6257+47C>A (n.6257+47C>A)
c.6068+47C>A (n.6068+47C>A)
c.4472+47C>A (n.4472+47C>A)
n.6608+47C>A
 gnomAD v4
6g.51912320A=CA1628583248PKHD1c.6332+46T= (n.6332+46T=)
c.5690+46T= (n.5690+46T=)
c.5621+46T= (n.5621+46T=)
c.407+46T= (n.407+46T=)
c.6257+46T= (n.6257+46T=)
c.6068+46T= (n.6068+46T=)
c.4472+46T= (n.4472+46T=)
n.6608+46T=
6g.51912320A>CCA3852292PKHD1c.6332+46T>G (n.6332+46T>G)
c.5690+46T>G (n.5690+46T>G)
c.5621+46T>G (n.5621+46T>G)
c.407+46T>G (n.407+46T>G)
c.6257+46T>G (n.6257+46T>G)
c.6068+46T>G (n.6068+46T>G)
c.4472+46T>G (n.4472+46T>G)
n.6608+46T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51912320A>GCA650326550PKHD1c.6332+46T>C (n.6332+46T>C)
c.5690+46T>C (n.5690+46T>C)
c.5621+46T>C (n.5621+46T>C)
c.407+46T>C (n.407+46T>C)
c.6257+46T>C (n.6257+46T>C)
c.6068+46T>C (n.6068+46T>C)
c.4472+46T>C (n.4472+46T>C)
n.6608+46T>C
 COSMIC COSMIC
6g.51912320A>TCA3852291PKHD1c.6332+46T>A (n.6332+46T>A)
c.5690+46T>A (n.5690+46T>A)
c.5621+46T>A (n.5621+46T>A)
c.407+46T>A (n.407+46T>A)
c.6257+46T>A (n.6257+46T>A)
c.6068+46T>A (n.6068+46T>A)
c.4472+46T>A (n.4472+46T>A)
n.6608+46T>A
 dbSNP ExAC gnomAD v4
6g.51912321T>CCA138910786PKHD1c.6332+45A>G (n.6332+45A>G)
c.5690+45A>G (n.5690+45A>G)
c.5621+45A>G (n.5621+45A>G)
c.407+45A>G (n.407+45A>G)
c.6257+45A>G (n.6257+45A>G)
c.6068+45A>G (n.6068+45A>G)
c.4472+45A>G (n.4472+45A>G)
n.6608+45A>G
 dbSNP gnomAD v4
6g.51912321T=CA1628583249PKHD1c.6332+45A= (n.6332+45A=)
c.5690+45A= (n.5690+45A=)
c.5621+45A= (n.5621+45A=)
c.407+45A= (n.407+45A=)
c.6257+45A= (n.6257+45A=)
c.6068+45A= (n.6068+45A=)
c.4472+45A= (n.4472+45A=)
n.6608+45A=
6g.51912322C>ACA1088988950PKHD1c.6332+44G>T (n.6332+44G>T)
c.5690+44G>T (n.5690+44G>T)
c.5621+44G>T (n.5621+44G>T)
c.407+44G>T (n.407+44G>T)
c.6257+44G>T (n.6257+44G>T)
c.6068+44G>T (n.6068+44G>T)
c.4472+44G>T (n.4472+44G>T)
n.6608+44G>T
 dbSNP gnomAD v3 gnomAD v4
6g.51912322C=CA1628583250PKHD1c.6332+44G= (n.6332+44G=)
c.5690+44G= (n.5690+44G=)
c.5621+44G= (n.5621+44G=)
c.407+44G= (n.407+44G=)
c.6257+44G= (n.6257+44G=)
c.6068+44G= (n.6068+44G=)
c.4472+44G= (n.4472+44G=)
n.6608+44G=
6g.51912324C>TCA2507251678PKHD1c.6332+42G>A (n.6332+42G>A)
c.5690+42G>A (n.5690+42G>A)
c.5621+42G>A (n.5621+42G>A)
c.407+42G>A (n.407+42G>A)
c.6257+42G>A (n.6257+42G>A)
c.6068+42G>A (n.6068+42G>A)
c.4472+42G>A (n.4472+42G>A)
n.6608+42G>A
 gnomAD v4
6g.51912325A=CA1628583251PKHD1c.6332+41T= (n.6332+41T=)
c.5690+41T= (n.5690+41T=)
c.5621+41T= (n.5621+41T=)
c.407+41T= (n.407+41T=)
c.6257+41T= (n.6257+41T=)
c.6068+41T= (n.6068+41T=)
c.4472+41T= (n.4472+41T=)
n.6608+41T=
6g.51912325A>CCA1088988951PKHD1c.6332+41T>G (n.6332+41T>G)
c.5690+41T>G (n.5690+41T>G)
c.5621+41T>G (n.5621+41T>G)
c.407+41T>G (n.407+41T>G)
c.6257+41T>G (n.6257+41T>G)
c.6068+41T>G (n.6068+41T>G)
c.4472+41T>G (n.4472+41T>G)
n.6608+41T>G
 dbSNP gnomAD v3 gnomAD v4
6g.51912325A>GCA2679081900PKHD1c.6332+41T>C (n.6332+41T>C)
c.5690+41T>C (n.5690+41T>C)
c.5621+41T>C (n.5621+41T>C)
c.407+41T>C (n.407+41T>C)
c.6257+41T>C (n.6257+41T>C)
c.6068+41T>C (n.6068+41T>C)
c.4472+41T>C (n.4472+41T>C)
n.6608+41T>C
 gnomAD v4
6g.51912326T>CCA2695206588PKHD1c.6332+40A>G (n.6332+40A>G)
c.5690+40A>G (n.5690+40A>G)
c.5621+40A>G (n.5621+40A>G)
c.407+40A>G (n.407+40A>G)
c.6257+40A>G (n.6257+40A>G)
c.6068+40A>G (n.6068+40A>G)
c.4472+40A>G (n.4472+40A>G)
n.6608+40A>G
6g.51912326_51912327insTTCA138910789PKHD1c.6332+40_6332+41insAA (n.6332+40_6332+41insAA)
c.5690+40_5690+41insAA (n.5690+40_5690+41insAA)
c.5621+40_5621+41insAA (n.5621+40_5621+41insAA)
c.407+40_407+41insAA (n.407+40_407+41insAA)
c.6257+40_6257+41insAA (n.6257+40_6257+41insAA)
c.6068+40_6068+41insAA (n.6068+40_6068+41insAA)
c.4472+40_4472+41insAA (n.4472+40_4472+41insAA)
n.6608+40_6608+41insAA
 dbSNP
6g.51912329T>CCA2679081901PKHD1c.6332+37A>G (n.6332+37A>G)
c.5690+37A>G (n.5690+37A>G)
c.5621+37A>G (n.5621+37A>G)
c.407+37A>G (n.407+37A>G)
c.6257+37A>G (n.6257+37A>G)
c.6068+37A>G (n.6068+37A>G)
c.4472+37A>G (n.4472+37A>G)
n.6608+37A>G
 gnomAD v4
6g.51912330C>TCA2578667766PKHD1c.6332+36G>A (n.6332+36G>A)
c.5690+36G>A (n.5690+36G>A)
c.5621+36G>A (n.5621+36G>A)
c.407+36G>A (n.407+36G>A)
c.6257+36G>A (n.6257+36G>A)
c.6068+36G>A (n.6068+36G>A)
c.4472+36G>A (n.4472+36G>A)
n.6608+36G>A
 gnomAD v4
6g.51912331T>CCA1628583253PKHD1c.6332+35A>G (n.6332+35A>G)
c.5690+35A>G (n.5690+35A>G)
c.5621+35A>G (n.5621+35A>G)
c.407+35A>G (n.407+35A>G)
c.6257+35A>G (n.6257+35A>G)
c.6068+35A>G (n.6068+35A>G)
c.4472+35A>G (n.4472+35A>G)
n.6608+35A>G
 dbSNP gnomAD v4
6g.51912331T=CA1628583254PKHD1c.6332+35A= (n.6332+35A=)
c.5690+35A= (n.5690+35A=)
c.5621+35A= (n.5621+35A=)
c.407+35A= (n.407+35A=)
c.6257+35A= (n.6257+35A=)
c.6068+35A= (n.6068+35A=)
c.4472+35A= (n.4472+35A=)
n.6608+35A=
6g.51912332T>GCA3852293PKHD1c.6332+34A>C (n.6332+34A>C)
c.5690+34A>C (n.5690+34A>C)
c.5621+34A>C (n.5621+34A>C)
c.407+34A>C (n.407+34A>C)
c.6257+34A>C (n.6257+34A>C)
c.6068+34A>C (n.6068+34A>C)
c.4472+34A>C (n.4472+34A>C)
n.6608+34A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51912332T=CA1628583255PKHD1c.6332+34A= (n.6332+34A=)
c.5690+34A= (n.5690+34A=)
c.5621+34A= (n.5621+34A=)
c.407+34A= (n.407+34A=)
c.6257+34A= (n.6257+34A=)
c.6068+34A= (n.6068+34A=)
c.4472+34A= (n.4472+34A=)
n.6608+34A=
6g.51912335A=CA1628583257PKHD1c.6332+31T= (n.6332+31T=)
c.5690+31T= (n.5690+31T=)
c.5621+31T= (n.5621+31T=)
c.407+31T= (n.407+31T=)
c.6257+31T= (n.6257+31T=)
c.6068+31T= (n.6068+31T=)
c.4472+31T= (n.4472+31T=)
n.6608+31T=
6g.51912335A>GCA1628583258PKHD1c.6332+31T>C (n.6332+31T>C)
c.5690+31T>C (n.5690+31T>C)
c.5621+31T>C (n.5621+31T>C)
c.407+31T>C (n.407+31T>C)
c.6257+31T>C (n.6257+31T>C)
c.6068+31T>C (n.6068+31T>C)
c.4472+31T>C (n.4472+31T>C)
n.6608+31T>C
 dbSNP
6g.51912336T>CCA2578667767PKHD1c.6332+30A>G (n.6332+30A>G)
c.5690+30A>G (n.5690+30A>G)
c.5621+30A>G (n.5621+30A>G)
c.407+30A>G (n.407+30A>G)
c.6257+30A>G (n.6257+30A>G)
c.6068+30A>G (n.6068+30A>G)
c.4472+30A>G (n.4472+30A>G)
n.6608+30A>G
6g.51912337G>ACA1628583260PKHD1c.6332+29C>T (n.6332+29C>T)
c.5690+29C>T (n.5690+29C>T)
c.5621+29C>T (n.5621+29C>T)
c.407+29C>T (n.407+29C>T)
c.6257+29C>T (n.6257+29C>T)
c.6068+29C>T (n.6068+29C>T)
c.4472+29C>T (n.4472+29C>T)
n.6608+29C>T
 dbSNP gnomAD v4
6g.51912337G=CA1628583259PKHD1c.6332+29C= (n.6332+29C=)
c.5690+29C= (n.5690+29C=)
c.5621+29C= (n.5621+29C=)
c.407+29C= (n.407+29C=)
c.6257+29C= (n.6257+29C=)
c.6068+29C= (n.6068+29C=)
c.4472+29C= (n.4472+29C=)
n.6608+29C=
6g.51912337G>TCA2679081902PKHD1c.6332+29C>A (n.6332+29C>A)
c.5690+29C>A (n.5690+29C>A)
c.5621+29C>A (n.5621+29C>A)
c.407+29C>A (n.407+29C>A)
c.6257+29C>A (n.6257+29C>A)
c.6068+29C>A (n.6068+29C>A)
c.4472+29C>A (n.4472+29C>A)
n.6608+29C>A
 gnomAD v4
6g.51912338T>CCA2679081903PKHD1c.6332+28A>G (n.6332+28A>G)
c.5690+28A>G (n.5690+28A>G)
c.5621+28A>G (n.5621+28A>G)
c.407+28A>G (n.407+28A>G)
c.6257+28A>G (n.6257+28A>G)
c.6068+28A>G (n.6068+28A>G)
c.4472+28A>G (n.4472+28A>G)
n.6608+28A>G
 gnomAD v4
6g.51912339C>ACA2679081904PKHD1c.6332+27G>T (n.6332+27G>T)
c.5690+27G>T (n.5690+27G>T)
c.5621+27G>T (n.5621+27G>T)
c.407+27G>T (n.407+27G>T)
c.6257+27G>T (n.6257+27G>T)
c.6068+27G>T (n.6068+27G>T)
c.4472+27G>T (n.4472+27G>T)
n.6608+27G>T
 gnomAD v4
6g.51912339C=CA1628583261PKHD1c.6332+27G= (n.6332+27G=)
c.5690+27G= (n.5690+27G=)
c.5621+27G= (n.5621+27G=)
c.407+27G= (n.407+27G=)
c.6257+27G= (n.6257+27G=)
c.6068+27G= (n.6068+27G=)
c.4472+27G= (n.4472+27G=)
n.6608+27G=
6g.51912339C>TCA3852294PKHD1c.6332+27G>A (n.6332+27G>A)
c.5690+27G>A (n.5690+27G>A)
c.5621+27G>A (n.5621+27G>A)
c.407+27G>A (n.407+27G>A)
c.6257+27G>A (n.6257+27G>A)
c.6068+27G>A (n.6068+27G>A)
c.4472+27G>A (n.4472+27G>A)
n.6608+27G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51912340A>GCA650326554PKHD1c.6332+26T>C (n.6332+26T>C)
c.5690+26T>C (n.5690+26T>C)
c.5621+26T>C (n.5621+26T>C)
c.407+26T>C (n.407+26T>C)
c.6257+26T>C (n.6257+26T>C)
c.6068+26T>C (n.6068+26T>C)
c.4472+26T>C (n.4472+26T>C)
n.6608+26T>C
 COSMIC
6g.51912341A=CA1628583264PKHD1c.6332+25T= (n.6332+25T=)
c.5690+25T= (n.5690+25T=)
c.5621+25T= (n.5621+25T=)
c.407+25T= (n.407+25T=)
c.6257+25T= (n.6257+25T=)
c.6068+25T= (n.6068+25T=)
c.4472+25T= (n.4472+25T=)
n.6608+25T=
6g.51912341A>CCA1628583263PKHD1c.6332+25T>G (n.6332+25T>G)
c.5690+25T>G (n.5690+25T>G)
c.5621+25T>G (n.5621+25T>G)
c.407+25T>G (n.407+25T>G)
c.6257+25T>G (n.6257+25T>G)
c.6068+25T>G (n.6068+25T>G)
c.4472+25T>G (n.4472+25T>G)
n.6608+25T>G
 dbSNP
6g.51912341A>GCA3852295PKHD1c.6332+25T>C (n.6332+25T>C)
c.5690+25T>C (n.5690+25T>C)
c.5621+25T>C (n.5621+25T>C)
c.407+25T>C (n.407+25T>C)
c.6257+25T>C (n.6257+25T>C)
c.6068+25T>C (n.6068+25T>C)
c.4472+25T>C (n.4472+25T>C)
n.6608+25T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51912341A>TCA2679081905PKHD1c.6332+25T>A (n.6332+25T>A)
c.5690+25T>A (n.5690+25T>A)
c.5621+25T>A (n.5621+25T>A)
c.407+25T>A (n.407+25T>A)
c.6257+25T>A (n.6257+25T>A)
c.6068+25T>A (n.6068+25T>A)
c.4472+25T>A (n.4472+25T>A)
n.6608+25T>A
 gnomAD v4
6g.51912342C=CA1628583266PKHD1c.6332+24G= (n.6332+24G=)
c.5690+24G= (n.5690+24G=)
c.5621+24G= (n.5621+24G=)
c.407+24G= (n.407+24G=)
c.6257+24G= (n.6257+24G=)
c.6068+24G= (n.6068+24G=)
c.4472+24G= (n.4472+24G=)
n.6608+24G=
6g.51912342C>TCA567636195PKHD1c.6332+24G>A (n.6332+24G>A)
c.5690+24G>A (n.5690+24G>A)
c.5621+24G>A (n.5621+24G>A)
c.407+24G>A (n.407+24G>A)
c.6257+24G>A (n.6257+24G>A)
c.6068+24G>A (n.6068+24G>A)
c.4472+24G>A (n.4472+24G>A)
n.6608+24G>A
 dbSNP gnomAD v2
6g.51912344T>CCA3852296PKHD1c.6332+22A>G (n.6332+22A>G)
c.5690+22A>G (n.5690+22A>G)
c.5621+22A>G (n.5621+22A>G)
c.407+22A>G (n.407+22A>G)
c.6257+22A>G (n.6257+22A>G)
c.6068+22A>G (n.6068+22A>G)
c.4472+22A>G (n.4472+22A>G)
n.6608+22A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51912344T=CA1628583268PKHD1c.6332+22A= (n.6332+22A=)
c.5690+22A= (n.5690+22A=)
c.5621+22A= (n.5621+22A=)
c.407+22A= (n.407+22A=)
c.6257+22A= (n.6257+22A=)
c.6068+22A= (n.6068+22A=)
c.4472+22A= (n.4472+22A=)
n.6608+22A=
6g.51912345A>GCA2578667768PKHD1c.6332+21T>C (n.6332+21T>C)
c.5690+21T>C (n.5690+21T>C)
c.5621+21T>C (n.5621+21T>C)
c.407+21T>C (n.407+21T>C)
c.6257+21T>C (n.6257+21T>C)
c.6068+21T>C (n.6068+21T>C)
c.4472+21T>C (n.4472+21T>C)
n.6608+21T>C
 gnomAD v4
6g.51912345A>TCA2679081906PKHD1c.6332+21T>A (n.6332+21T>A)
c.5690+21T>A (n.5690+21T>A)
c.5621+21T>A (n.5621+21T>A)
c.407+21T>A (n.407+21T>A)
c.6257+21T>A (n.6257+21T>A)
c.6068+21T>A (n.6068+21T>A)
c.4472+21T>A (n.4472+21T>A)
n.6608+21T>A
 gnomAD v4
6g.51912346G>ACA1628583271PKHD1c.6332+20C>T (n.6332+20C>T)
c.5690+20C>T (n.5690+20C>T)
c.5621+20C>T (n.5621+20C>T)
c.407+20C>T (n.407+20C>T)
c.6257+20C>T (n.6257+20C>T)
c.6068+20C>T (n.6068+20C>T)
c.4472+20C>T (n.4472+20C>T)
n.6608+20C>T
 dbSNP
6g.51912346G=CA1628583270PKHD1c.6332+20C= (n.6332+20C=)
c.5690+20C= (n.5690+20C=)
c.5621+20C= (n.5621+20C=)
c.407+20C= (n.407+20C=)
c.6257+20C= (n.6257+20C=)
c.6068+20C= (n.6068+20C=)
c.4472+20C= (n.4472+20C=)
n.6608+20C=
6g.51912346G>TCA2679081907PKHD1c.6332+20C>A (n.6332+20C>A)
c.5690+20C>A (n.5690+20C>A)
c.5621+20C>A (n.5621+20C>A)
c.407+20C>A (n.407+20C>A)
c.6257+20C>A (n.6257+20C>A)
c.6068+20C>A (n.6068+20C>A)
c.4472+20C>A (n.4472+20C>A)
n.6608+20C>A
 gnomAD v4
6g.51912347C=CA1628583272PKHD1c.6332+19G= (n.6332+19G=)
c.5690+19G= (n.5690+19G=)
c.5621+19G= (n.5621+19G=)
c.407+19G= (n.407+19G=)
c.6257+19G= (n.6257+19G=)
c.6068+19G= (n.6068+19G=)
c.4472+19G= (n.4472+19G=)
n.6608+19G=
6g.51912347C>TCA3852297PKHD1c.6332+19G>A (n.6332+19G>A)
c.5690+19G>A (n.5690+19G>A)
c.5621+19G>A (n.5621+19G>A)
c.407+19G>A (n.407+19G>A)
c.6257+19G>A (n.6257+19G>A)
c.6068+19G>A (n.6068+19G>A)
c.4472+19G>A (n.4472+19G>A)
n.6608+19G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51912348C=CA1628583274PKHD1c.6332+18G= (n.6332+18G=)
c.5690+18G= (n.5690+18G=)
c.5621+18G= (n.5621+18G=)
c.407+18G= (n.407+18G=)
c.6257+18G= (n.6257+18G=)
c.6068+18G= (n.6068+18G=)
c.4472+18G= (n.4472+18G=)
n.6608+18G=
6g.51912348C>GCA825713970PKHD1c.6332+18G>C (n.6332+18G>C)
c.5690+18G>C (n.5690+18G>C)
c.5621+18G>C (n.5621+18G>C)
c.407+18G>C (n.407+18G>C)
c.6257+18G>C (n.6257+18G>C)
c.6068+18G>C (n.6068+18G>C)
c.4472+18G>C (n.4472+18G>C)
n.6608+18G>C
 ClinVar dbSNP gnomAD v4
6g.51912348C>TCA2578667769PKHD1c.6332+18G>A (n.6332+18G>A)
c.5690+18G>A (n.5690+18G>A)
c.5621+18G>A (n.5621+18G>A)
c.407+18G>A (n.407+18G>A)
c.6257+18G>A (n.6257+18G>A)
c.6068+18G>A (n.6068+18G>A)
c.4472+18G>A (n.4472+18G>A)
n.6608+18G>A
 gnomAD v4
6g.51912350A>GCA2679081908PKHD1c.6332+16T>C (n.6332+16T>C)
c.5690+16T>C (n.5690+16T>C)
c.5621+16T>C (n.5621+16T>C)
c.407+16T>C (n.407+16T>C)
c.6257+16T>C (n.6257+16T>C)
c.6068+16T>C (n.6068+16T>C)
c.4472+16T>C (n.4472+16T>C)
n.6608+16T>C
 gnomAD v4
6g.51912351G>TCA2679081909PKHD1c.6332+15C>A (n.6332+15C>A)
c.5690+15C>A (n.5690+15C>A)
c.5621+15C>A (n.5621+15C>A)
c.407+15C>A (n.407+15C>A)
c.6257+15C>A (n.6257+15C>A)
c.6068+15C>A (n.6068+15C>A)
c.4472+15C>A (n.4472+15C>A)
n.6608+15C>A
 gnomAD v4
6g.51912352C>TCA2578667770PKHD1c.6332+14G>A (n.6332+14G>A)
c.5690+14G>A (n.5690+14G>A)
c.5621+14G>A (n.5621+14G>A)
c.407+14G>A (n.407+14G>A)
c.6257+14G>A (n.6257+14G>A)
c.6068+14G>A (n.6068+14G>A)
c.4472+14G>A (n.4472+14G>A)
n.6608+14G>A
 dbSNP gnomAD v4
6g.51912353T>CCA2679081910PKHD1c.6332+13A>G (n.6332+13A>G)
c.5690+13A>G (n.5690+13A>G)
c.5621+13A>G (n.5621+13A>G)
c.407+13A>G (n.407+13A>G)
c.6257+13A>G (n.6257+13A>G)
c.6068+13A>G (n.6068+13A>G)
c.4472+13A>G (n.4472+13A>G)
n.6608+13A>G
 gnomAD v4
6g.51912354G>ACA825713976PKHD1c.6332+12C>T (n.6332+12C>T)
c.5690+12C>T (n.5690+12C>T)
c.5621+12C>T (n.5621+12C>T)
c.407+12C>T (n.407+12C>T)
c.6257+12C>T (n.6257+12C>T)
c.6068+12C>T (n.6068+12C>T)
c.4472+12C>T (n.4472+12C>T)
n.6608+12C>T
 ClinVar dbSNP
6g.51912354G=CA1628583275PKHD1c.6332+12C= (n.6332+12C=)
c.5690+12C= (n.5690+12C=)
c.5621+12C= (n.5621+12C=)
c.407+12C= (n.407+12C=)
c.6257+12C= (n.6257+12C=)
c.6068+12C= (n.6068+12C=)
c.4472+12C= (n.4472+12C=)
n.6608+12C=
6g.51912354G>TCA2679081911PKHD1c.6332+12C>A (n.6332+12C>A)
c.5690+12C>A (n.5690+12C>A)
c.5621+12C>A (n.5621+12C>A)
c.407+12C>A (n.407+12C>A)
c.6257+12C>A (n.6257+12C>A)
c.6068+12C>A (n.6068+12C>A)
c.4472+12C>A (n.4472+12C>A)
n.6608+12C>A
 gnomAD v4
6g.51912355A>GCA2679081912PKHD1c.6332+11T>C (n.6332+11T>C)
c.5690+11T>C (n.5690+11T>C)
c.5621+11T>C (n.5621+11T>C)
c.407+11T>C (n.407+11T>C)
c.6257+11T>C (n.6257+11T>C)
c.6068+11T>C (n.6068+11T>C)
c.4472+11T>C (n.4472+11T>C)
n.6608+11T>C
 gnomAD v4
6g.51912356C>TCA2679081913PKHD1c.6332+10G>A (n.6332+10G>A)
c.5690+10G>A (n.5690+10G>A)
c.5621+10G>A (n.5621+10G>A)
c.407+10G>A (n.407+10G>A)
c.6257+10G>A (n.6257+10G>A)
c.6068+10G>A (n.6068+10G>A)
c.4472+10G>A (n.4472+10G>A)
n.6608+10G>A
 gnomAD v4
6g.51912358C=CA1628583277PKHD1c.6332+8G= (n.6332+8G=)
c.5690+8G= (n.5690+8G=)
c.5621+8G= (n.5621+8G=)
c.407+8G= (n.407+8G=)
c.6257+8G= (n.6257+8G=)
c.6068+8G= (n.6068+8G=)
c.4472+8G= (n.4472+8G=)
n.6608+8G=
6g.51912358C>TCA1628583278PKHD1c.6332+8G>A (n.6332+8G>A)
c.5690+8G>A (n.5690+8G>A)
c.5621+8G>A (n.5621+8G>A)
c.407+8G>A (n.407+8G>A)
c.6257+8G>A (n.6257+8G>A)
c.6068+8G>A (n.6068+8G>A)
c.4472+8G>A (n.4472+8G>A)
n.6608+8G>A
 dbSNP gnomAD v4
6g.51912360C>ACA2578667771PKHD1c.6332+6G>T (n.6332+6G>T)
c.5690+6G>T (n.5690+6G>T)
c.5621+6G>T (n.5621+6G>T)
c.407+6G>T (n.407+6G>T)
c.6257+6G>T (n.6257+6G>T)
c.6068+6G>T (n.6068+6G>T)
c.4472+6G>T (n.4472+6G>T)
n.6608+6G>T
 gnomAD v4
6g.51912360C>TCA2679081914PKHD1c.6332+6G>A (n.6332+6G>A)
c.5690+6G>A (n.5690+6G>A)
c.5621+6G>A (n.5621+6G>A)
c.407+6G>A (n.407+6G>A)
c.6257+6G>A (n.6257+6G>A)
c.6068+6G>A (n.6068+6G>A)
c.4472+6G>A (n.4472+6G>A)
n.6608+6G>A
 gnomAD v4
6g.51912361A>GCA2679081915PKHD1c.6332+5T>C (n.6332+5T>C)
c.5690+5T>C (n.5690+5T>C)
c.5621+5T>C (n.5621+5T>C)
c.407+5T>C (n.407+5T>C)
c.6257+5T>C (n.6257+5T>C)
c.6068+5T>C (n.6068+5T>C)
c.4472+5T>C (n.4472+5T>C)
n.6608+5T>C
 gnomAD v4
6g.51912361A>TCA2679081916PKHD1c.6332+5T>A (n.6332+5T>A)
c.5690+5T>A (n.5690+5T>A)
c.5621+5T>A (n.5621+5T>A)
c.407+5T>A (n.407+5T>A)
c.6257+5T>A (n.6257+5T>A)
c.6068+5T>A (n.6068+5T>A)
c.4472+5T>A (n.4472+5T>A)
n.6608+5T>A
 gnomAD v4
6g.51912362G>TCA2679081917PKHD1c.6332+4C>A (n.6332+4C>A)
c.5690+4C>A (n.5690+4C>A)
c.5621+4C>A (n.5621+4C>A)
c.407+4C>A (n.407+4C>A)
c.6257+4C>A (n.6257+4C>A)
c.6068+4C>A (n.6068+4C>A)
c.4472+4C>A (n.4472+4C>A)
n.6608+4C>A
 gnomAD v4
6g.51912363T>CCA2679081918PKHD1c.6332+3A>G (n.6332+3A>G)
c.5690+3A>G (n.5690+3A>G)
c.5621+3A>G (n.5621+3A>G)
c.407+3A>G (n.407+3A>G)
c.6257+3A>G (n.6257+3A>G)
c.6068+3A>G (n.6068+3A>G)
c.4472+3A>G (n.4472+3A>G)
n.6608+3A>G
 gnomAD v4
6g.51912363T>GCA3852298PKHD1c.6332+3A>C (n.6332+3A>C)
c.5690+3A>C (n.5690+3A>C)
c.5621+3A>C (n.5621+3A>C)
c.407+3A>C (n.407+3A>C)
c.6257+3A>C (n.6257+3A>C)
c.6068+3A>C (n.6068+3A>C)
c.4472+3A>C (n.4472+3A>C)
n.6608+3A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51912363T=CA1628583279PKHD1c.6332+3A= (n.6332+3A=)
c.5690+3A= (n.5690+3A=)
c.5621+3A= (n.5621+3A=)
c.407+3A= (n.407+3A=)
c.6257+3A= (n.6257+3A=)
c.6068+3A= (n.6068+3A=)
c.4472+3A= (n.4472+3A=)
n.6608+3A=
6g.51912364A=CA1628583281PKHD1c.6332+2T= (n.6332+2T=)
c.5690+2T= (n.5690+2T=)
c.5621+2T= (n.5621+2T=)
c.407+2T= (n.407+2T=)
c.6257+2T= (n.6257+2T=)
c.6068+2T= (n.6068+2T=)
c.4472+2T= (n.4472+2T=)
n.6608+2T=
6g.51912364A>CCA364439114PKHD1c.6332+2T>G (n.6332+2T>G)
c.5690+2T>G (n.5690+2T>G)
c.5621+2T>G (n.5621+2T>G)
c.407+2T>G (n.407+2T>G)
c.6257+2T>G (n.6257+2T>G)
c.6068+2T>G (n.6068+2T>G)
c.4472+2T>G (n.4472+2T>G)
n.6608+2T>G
6g.51912364A>GCA364439116PKHD1c.6332+2T>C (n.6332+2T>C)
c.5690+2T>C (n.5690+2T>C)
c.5621+2T>C (n.5621+2T>C)
c.407+2T>C (n.407+2T>C)
c.6257+2T>C (n.6257+2T>C)
c.6068+2T>C (n.6068+2T>C)
c.4472+2T>C (n.4472+2T>C)
n.6608+2T>C
6g.51912364A>TCA364439118PKHD1c.6332+2T>A (n.6332+2T>A)
c.5690+2T>A (n.5690+2T>A)
c.5621+2T>A (n.5621+2T>A)
c.407+2T>A (n.407+2T>A)
c.6257+2T>A (n.6257+2T>A)
c.6068+2T>A (n.6068+2T>A)
c.4472+2T>A (n.4472+2T>A)
n.6608+2T>A
 ClinVar dbSNP gnomAD v4
6g.51912365C>ACA364439121PKHD1c.6332+1G>T (n.6332+1G>T)
c.5690+1G>T (n.5690+1G>T)
c.5621+1G>T (n.5621+1G>T)
c.407+1G>T (n.407+1G>T)
c.6257+1G>T (n.6257+1G>T)
c.6068+1G>T (n.6068+1G>T)
c.4472+1G>T (n.4472+1G>T)
n.6608+1G>T
6g.51912365C=CA1628583283PKHD1c.6332+1G= (n.6332+1G=)
c.5690+1G= (n.5690+1G=)
c.5621+1G= (n.5621+1G=)
c.407+1G= (n.407+1G=)
c.6257+1G= (n.6257+1G=)
c.6068+1G= (n.6068+1G=)
c.4472+1G= (n.4472+1G=)
n.6608+1G=
6g.51912365C>GCA364439123PKHD1c.6332+1G>C (n.6332+1G>C)
c.5690+1G>C (n.5690+1G>C)
c.5621+1G>C (n.5621+1G>C)
c.407+1G>C (n.407+1G>C)
c.6257+1G>C (n.6257+1G>C)
c.6068+1G>C (n.6068+1G>C)
c.4472+1G>C (n.4472+1G>C)
n.6608+1G>C
 gnomAD v4
6g.51912365C>TCA138910805PKHD1c.6332+1G>A (n.6332+1G>A)
c.5690+1G>A (n.5690+1G>A)
c.5621+1G>A (n.5621+1G>A)
c.407+1G>A (n.407+1G>A)
c.6257+1G>A (n.6257+1G>A)
c.6068+1G>A (n.6068+1G>A)
c.4472+1G>A (n.4472+1G>A)
n.6608+1G>A
 ClinVar dbSNP gnomAD v4
6g.51912366dupCA825713990PKHD1c.6332+1dup
c.5690+1dup
c.5621+1dup
c.407+1dup
c.6257+1dup
c.6068+1dup
c.4472+1dup
n.6608+1dup
 dbSNP
6g.51912366C>ACA364439131PKHD1c.6332G>T (p.Arg2111Ile)
c.5690G>T (p.Arg1897Ile)
c.5621G>T (p.Arg1874Ile)
c.407G>T (p.Arg136Ile)
c.6257G>T (p.Arg2086Ile)
c.6068G>T (p.Arg2023Ile)
c.4472G>T (p.Arg1491Ile)
n.6608G>T
6g.51912366C>GCA364439126PKHD1c.6332G>C (p.Arg2111Thr)
c.5690G>C (p.Arg1897Thr)
c.5621G>C (p.Arg1874Thr)
c.407G>C (p.Arg136Thr)
c.6257G>C (p.Arg2086Thr)
c.6068G>C (p.Arg2023Thr)
c.4472G>C (p.Arg1491Thr)
n.6608G>C
6g.51912366C>TCA364439129PKHD1c.6332G>A (p.Arg2111Lys)
c.5690G>A (p.Arg1897Lys)
c.5621G>A (p.Arg1874Lys)
c.407G>A (p.Arg136Lys)
c.6257G>A (p.Arg2086Lys)
c.6068G>A (p.Arg2023Lys)
c.4472G>A (p.Arg1491Lys)
n.6608G>A
6g.51912367T>ACA364439133PKHD1c.6331A>T (p.Arg2111Ter)
c.5689A>T (p.Arg1897Ter)
c.5620A>T (p.Arg1874Ter)
c.406A>T (p.Arg136Ter)
c.6256A>T (p.Arg2086Ter)
c.6067A>T (p.Arg2023Ter)
c.4471A>T (p.Arg1491Ter)
n.6607A>T
6g.51912367T>CCA364439135PKHD1c.6331A>G (p.Arg2111Gly)
c.5689A>G (p.Arg1897Gly)
c.5620A>G (p.Arg1874Gly)
c.406A>G (p.Arg136Gly)
c.6256A>G (p.Arg2086Gly)
c.6067A>G (p.Arg2023Gly)
c.4471A>G (p.Arg1491Gly)
n.6607A>G
6g.51912367T>GCA450415911PKHD1c.6331A>C (p.Arg2111=)
c.5689A>C (p.Arg1897=)
c.5620A>C (p.Arg1874=)
c.406A>C (p.Arg136=)
c.6256A>C (p.Arg2086=)
c.6067A>C (p.Arg2023=)
c.4471A>C (p.Arg1491=)
n.6607A>C
6g.51912368C>ACA364439137PKHD1c.6330G>T (p.Leu2110Phe)
c.5688G>T (p.Leu1896Phe)
c.5619G>T (p.Leu1873Phe)
c.405G>T (p.Leu135Phe)
c.6255G>T (p.Leu2085Phe)
c.6066G>T (p.Leu2022Phe)
c.4470G>T (p.Leu1490Phe)
n.6606G>T
6g.51912368C>GCA364439139PKHD1c.6330G>C (p.Leu2110Phe)
c.5688G>C (p.Leu1896Phe)
c.5619G>C (p.Leu1873Phe)
c.405G>C (p.Leu135Phe)
c.6255G>C (p.Leu2085Phe)
c.6066G>C (p.Leu2022Phe)
c.4470G>C (p.Leu1490Phe)
n.6606G>C
6g.51912368C>TCA450415912PKHD1c.6330G>A (p.Leu2110=)
c.5688G>A (p.Leu1896=)
c.5619G>A (p.Leu1873=)
c.405G>A (p.Leu135=)
c.6255G>A (p.Leu2085=)
c.6066G>A (p.Leu2022=)
c.4470G>A (p.Leu1490=)
n.6606G>A
 gnomAD v4
6g.51912369A>CCA364439141PKHD1c.6329T>G (p.Leu2110Trp)
c.5687T>G (p.Leu1896Trp)
c.5618T>G (p.Leu1873Trp)
c.404T>G (p.Leu135Trp)
c.6254T>G (p.Leu2085Trp)
c.6065T>G (p.Leu2022Trp)
c.4469T>G (p.Leu1490Trp)
n.6605T>G
 gnomAD v4
6g.51912369A>GCA364439143PKHD1c.6329T>C (p.Leu2110Ser)
c.5687T>C (p.Leu1896Ser)
c.5618T>C (p.Leu1873Ser)
c.404T>C (p.Leu135Ser)
c.6254T>C (p.Leu2085Ser)
c.6065T>C (p.Leu2022Ser)
c.4469T>C (p.Leu1490Ser)
n.6605T>C
6g.51912369A>TCA364439145PKHD1c.6329T>A (p.Leu2110Ter)
c.5687T>A (p.Leu1896Ter)
c.5618T>A (p.Leu1873Ter)
c.404T>A (p.Leu135Ter)
c.6254T>A (p.Leu2085Ter)
c.6065T>A (p.Leu2022Ter)
c.4469T>A (p.Leu1490Ter)
n.6605T>A
6g.51912371dupCA645561174PKHD1c.6329dup (p.Leu2110PhefsTer?)
c.5687dup (p.Leu1896PhefsTer?)
c.5618dup (p.Leu1873PhefsTer?)
c.404dup (p.Leu135PhefsTer?)
c.6254dup (p.Leu2085PhefsTer?)
c.6065dup (p.Leu2022PhefsTer?)
c.4469dup (p.Leu1490PhefsTer?)
n.6605dup
 COSMIC COSMIC
6g.51912370A>CCA364439146PKHD1c.6328T>G (p.Leu2110Val)
c.5686T>G (p.Leu1896Val)
c.5617T>G (p.Leu1873Val)
c.403T>G (p.Leu135Val)
c.6253T>G (p.Leu2085Val)
c.6064T>G (p.Leu2022Val)
c.4468T>G (p.Leu1490Val)
n.6604T>G
6g.51912370A>GCA450415913PKHD1c.6328T>C (p.Leu2110=)
c.5686T>C (p.Leu1896=)
c.5617T>C (p.Leu1873=)
c.403T>C (p.Leu135=)
c.6253T>C (p.Leu2085=)
c.6064T>C (p.Leu2022=)
c.4468T>C (p.Leu1490=)
n.6604T>C
6g.51912370A>TCA364439150PKHD1c.6328T>A (p.Leu2110Met)
c.5686T>A (p.Leu1896Met)
c.5617T>A (p.Leu1873Met)
c.403T>A (p.Leu135Met)
c.6253T>A (p.Leu2085Met)
c.6064T>A (p.Leu2022Met)
c.4468T>A (p.Leu1490Met)
n.6604T>A
6g.51912371A>CCA450415914PKHD1c.6327T>G (p.Pro2109=)
c.5685T>G (p.Pro1895=)
c.5616T>G (p.Pro1872=)
c.402T>G (p.Pro134=)
c.6252T>G (p.Pro2084=)
c.6063T>G (p.Pro2021=)
c.4467T>G (p.Pro1489=)
n.6603T>G
 gnomAD v4 COSMIC COSMIC
6g.51912371A>GCA450415915PKHD1c.6327T>C (p.Pro2109=)
c.5685T>C (p.Pro1895=)
c.5616T>C (p.Pro1872=)
c.402T>C (p.Pro134=)
c.6252T>C (p.Pro2084=)
c.6063T>C (p.Pro2021=)
c.4467T>C (p.Pro1489=)
n.6603T>C
6g.51912371A>TCA450415916PKHD1c.6327T>A (p.Pro2109=)
c.5685T>A (p.Pro1895=)
c.5616T>A (p.Pro1872=)
c.402T>A (p.Pro134=)
c.6252T>A (p.Pro2084=)
c.6063T>A (p.Pro2021=)
c.4467T>A (p.Pro1489=)
n.6603T>A
6g.51912372G>ACA364439153PKHD1c.6326C>T (p.Pro2109Leu)
c.5684C>T (p.Pro1895Leu)
c.5615C>T (p.Pro1872Leu)
c.401C>T (p.Pro134Leu)
c.6251C>T (p.Pro2084Leu)
c.6062C>T (p.Pro2021Leu)
c.4466C>T (p.Pro1489Leu)
n.6602C>T
 dbSNP
6g.51912372G>CCA364439155PKHD1c.6326C>G (p.Pro2109Arg)
c.5684C>G (p.Pro1895Arg)
c.5615C>G (p.Pro1872Arg)
c.401C>G (p.Pro134Arg)
c.6251C>G (p.Pro2084Arg)
c.6062C>G (p.Pro2021Arg)
c.4466C>G (p.Pro1489Arg)
n.6602C>G
6g.51912372G=CA1628583285PKHD1c.6326C= (p.Pro2109=)
c.5684C= (p.Pro1895=)
c.5615C= (p.Pro1872=)
c.401C= (p.Pro134=)
c.6251C= (p.Pro2084=)
c.6062C= (p.Pro2021=)
c.4466C= (p.Pro1489=)
n.6602C=
6g.51912372G>TCA364439157PKHD1c.6326C>A (p.Pro2109His)
c.5684C>A (p.Pro1895His)
c.5615C>A (p.Pro1872His)
c.401C>A (p.Pro134His)
c.6251C>A (p.Pro2084His)
c.6062C>A (p.Pro2021His)
c.4466C>A (p.Pro1489His)
n.6602C>A
6g.51912373G>ACA364439162PKHD1c.6325C>T (p.Pro2109Ser)
c.5683C>T (p.Pro1895Ser)
c.5614C>T (p.Pro1872Ser)
c.400C>T (p.Pro134Ser)
c.6250C>T (p.Pro2084Ser)
c.6061C>T (p.Pro2021Ser)
c.4465C>T (p.Pro1489Ser)
n.6601C>T
6g.51912373G>CCA364439165PKHD1c.6325C>G (p.Pro2109Ala)
c.5683C>G (p.Pro1895Ala)
c.5614C>G (p.Pro1872Ala)
c.400C>G (p.Pro134Ala)
c.6250C>G (p.Pro2084Ala)
c.6061C>G (p.Pro2021Ala)
c.4465C>G (p.Pro1489Ala)
n.6601C>G
 gnomAD v4
6g.51912373G>TCA364439160PKHD1c.6325C>A (p.Pro2109Thr)
c.5683C>A (p.Pro1895Thr)
c.5614C>A (p.Pro1872Thr)
c.400C>A (p.Pro134Thr)
c.6250C>A (p.Pro2084Thr)
c.6061C>A (p.Pro2021Thr)
c.4465C>A (p.Pro1489Thr)
n.6601C>A
 gnomAD v4 COSMIC COSMIC
6g.51912374T>ACA450415917PKHD1c.6324A>T (p.Ser2108=)
c.5682A>T (p.Ser1894=)
c.5613A>T (p.Ser1871=)
c.399A>T (p.Ser133=)
c.6249A>T (p.Ser2083=)
c.6060A>T (p.Ser2020=)
c.4464A>T (p.Ser1488=)
n.6600A>T
6g.51912374T>CCA450415918PKHD1c.6324A>G (p.Ser2108=)
c.5682A>G (p.Ser1894=)
c.5613A>G (p.Ser1871=)
c.399A>G (p.Ser133=)
c.6249A>G (p.Ser2083=)
c.6060A>G (p.Ser2020=)
c.4464A>G (p.Ser1488=)
n.6600A>G
6g.51912374T>GCA450415919PKHD1c.6324A>C (p.Ser2108=)
c.5682A>C (p.Ser1894=)
c.5613A>C (p.Ser1871=)
c.399A>C (p.Ser133=)
c.6249A>C (p.Ser2083=)
c.6060A>C (p.Ser2020=)
c.4464A>C (p.Ser1488=)
n.6600A>C
6g.51912375G>ACA364439171PKHD1c.6323C>T (p.Ser2108Leu)
c.5681C>T (p.Ser1894Leu)
c.5612C>T (p.Ser1871Leu)
c.398C>T (p.Ser133Leu)
c.6248C>T (p.Ser2083Leu)
c.6059C>T (p.Ser2020Leu)
c.4463C>T (p.Ser1488Leu)
n.6599C>T
 dbSNP
6g.51912375G>CCA364439167PKHD1c.6323C>G (p.Ser2108Ter)
c.5681C>G (p.Ser1894Ter)
c.5612C>G (p.Ser1871Ter)
c.398C>G (p.Ser133Ter)
c.6248C>G (p.Ser2083Ter)
c.6059C>G (p.Ser2020Ter)
c.4463C>G (p.Ser1488Ter)
n.6599C>G
6g.51912375G=CA1628583287PKHD1c.6323C= (p.Ser2108=)
c.5681C= (p.Ser1894=)
c.5612C= (p.Ser1871=)
c.398C= (p.Ser133=)
c.6248C= (p.Ser2083=)
c.6059C= (p.Ser2020=)
c.4463C= (p.Ser1488=)
n.6599C=
6g.51912375G>TCA364439169PKHD1c.6323C>A (p.Ser2108Ter)
c.5681C>A (p.Ser1894Ter)
c.5612C>A (p.Ser1871Ter)
c.398C>A (p.Ser133Ter)
c.6248C>A (p.Ser2083Ter)
c.6059C>A (p.Ser2020Ter)
c.4463C>A (p.Ser1488Ter)
n.6599C>A
 gnomAD v4
6g.51912376A>CCA364439174PKHD1c.6322T>G (p.Ser2108Ala)
c.5680T>G (p.Ser1894Ala)
c.5611T>G (p.Ser1871Ala)
c.397T>G (p.Ser133Ala)
c.6247T>G (p.Ser2083Ala)
c.6058T>G (p.Ser2020Ala)
c.4462T>G (p.Ser1488Ala)
n.6598T>G
6g.51912376A>GCA364439175PKHD1c.6322T>C (p.Ser2108Pro)
c.5680T>C (p.Ser1894Pro)
c.5611T>C (p.Ser1871Pro)
c.397T>C (p.Ser133Pro)
c.6247T>C (p.Ser2083Pro)
c.6058T>C (p.Ser2020Pro)
c.4462T>C (p.Ser1488Pro)
n.6598T>C
6g.51912376A>TCA364439177PKHD1c.6322T>A (p.Ser2108Thr)
c.5680T>A (p.Ser1894Thr)
c.5611T>A (p.Ser1871Thr)
c.397T>A (p.Ser133Thr)
c.6247T>A (p.Ser2083Thr)
c.6058T>A (p.Ser2020Thr)
c.4462T>A (p.Ser1488Thr)
n.6598T>A
6g.51912377C>ACA364439179PKHD1c.6321G>T (p.Lys2107Asn)
c.5679G>T (p.Lys1893Asn)
c.5610G>T (p.Lys1870Asn)
c.396G>T (p.Lys132Asn)
c.6246G>T (p.Lys2082Asn)
c.6057G>T (p.Lys2019Asn)
c.4461G>T (p.Lys1487Asn)
n.6597G>T
6g.51912377C>GCA364439180PKHD1c.6321G>C (p.Lys2107Asn)
c.5679G>C (p.Lys1893Asn)
c.5610G>C (p.Lys1870Asn)
c.396G>C (p.Lys132Asn)
c.6246G>C (p.Lys2082Asn)
c.6057G>C (p.Lys2019Asn)
c.4461G>C (p.Lys1487Asn)
n.6597G>C
 gnomAD v4
6g.51912377C>TCA450415920PKHD1c.6321G>A (p.Lys2107=)
c.5679G>A (p.Lys1893=)
c.5610G>A (p.Lys1870=)
c.396G>A (p.Lys132=)
c.6246G>A (p.Lys2082=)
c.6057G>A (p.Lys2019=)
c.4461G>A (p.Lys1487=)
n.6597G>A
6g.51912377_51912379delinsACA2580075491PKHD1c.6319_6321delinsT (p.Lys2107PhefsTer?)
c.5677_5679delinsT (p.Lys1893PhefsTer?)
c.5608_5610delinsT (p.Lys1870PhefsTer?)
c.394_396delinsT (p.Lys132PhefsTer?)
c.6244_6246delinsT (p.Lys2082PhefsTer?)
c.6055_6057delinsT (p.Lys2019PhefsTer?)
c.4459_4461delinsT (p.Lys1487PhefsTer?)
n.6595_6597delinsT
 ClinVar
6g.51912378T>ACA364439183PKHD1c.6320A>T (p.Lys2107Met)
c.5678A>T (p.Lys1893Met)
c.5609A>T (p.Lys1870Met)
c.395A>T (p.Lys132Met)
c.6245A>T (p.Lys2082Met)
c.6056A>T (p.Lys2019Met)
c.4460A>T (p.Lys1487Met)
n.6596A>T
6g.51912378T>CCA364439184PKHD1c.6320A>G (p.Lys2107Arg)
c.5678A>G (p.Lys1893Arg)
c.5609A>G (p.Lys1870Arg)
c.395A>G (p.Lys132Arg)
c.6245A>G (p.Lys2082Arg)
c.6056A>G (p.Lys2019Arg)
c.4460A>G (p.Lys1487Arg)
n.6596A>G
6g.51912378T>GCA3852299PKHD1c.6320A>C (p.Lys2107Thr)
c.5678A>C (p.Lys1893Thr)
c.5609A>C (p.Lys1870Thr)
c.395A>C (p.Lys132Thr)
c.6245A>C (p.Lys2082Thr)
c.6056A>C (p.Lys2019Thr)
c.4460A>C (p.Lys1487Thr)
n.6596A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51912378T=CA1628583289PKHD1c.6320A= (p.Lys2107=)
c.5678A= (p.Lys1893=)
c.5609A= (p.Lys1870=)
c.395A= (p.Lys132=)
c.6245A= (p.Lys2082=)
c.6056A= (p.Lys2019=)
c.4460A= (p.Lys1487=)
n.6596A=
6g.51912379T>ACA364439188PKHD1c.6319A>T (p.Lys2107Ter)
c.5677A>T (p.Lys1893Ter)
c.5608A>T (p.Lys1870Ter)
c.394A>T (p.Lys132Ter)
c.6244A>T (p.Lys2082Ter)
c.6055A>T (p.Lys2019Ter)
c.4459A>T (p.Lys1487Ter)
n.6595A>T
6g.51912379T>CCA364439190PKHD1c.6319A>G (p.Lys2107Glu)
c.5677A>G (p.Lys1893Glu)
c.5608A>G (p.Lys1870Glu)
c.394A>G (p.Lys132Glu)
c.6244A>G (p.Lys2082Glu)
c.6055A>G (p.Lys2019Glu)
c.4459A>G (p.Lys1487Glu)
n.6595A>G
 gnomAD v4
6g.51912379T>GCA364439192PKHD1c.6319A>C (p.Lys2107Gln)
c.5677A>C (p.Lys1893Gln)
c.5608A>C (p.Lys1870Gln)
c.394A>C (p.Lys132Gln)
c.6244A>C (p.Lys2082Gln)
c.6055A>C (p.Lys2019Gln)
c.4459A>C (p.Lys1487Gln)
n.6595A>C
6g.51912380A>CCA450415921PKHD1c.6318T>G (p.Leu2106=)
c.5676T>G (p.Leu1892=)
c.5607T>G (p.Leu1869=)
c.393T>G (p.Leu131=)
c.6243T>G (p.Leu2081=)
c.6054T>G (p.Leu2018=)
c.4458T>G (p.Leu1486=)
n.6594T>G
6g.51912380A>GCA450415922PKHD1c.6318T>C (p.Leu2106=)
c.5676T>C (p.Leu1892=)
c.5607T>C (p.Leu1869=)
c.393T>C (p.Leu131=)
c.6243T>C (p.Leu2081=)
c.6054T>C (p.Leu2018=)
c.4458T>C (p.Leu1486=)
n.6594T>C
6g.51912380A>TCA450415923PKHD1c.6318T>A (p.Leu2106=)
c.5676T>A (p.Leu1892=)
c.5607T>A (p.Leu1869=)
c.393T>A (p.Leu131=)
c.6243T>A (p.Leu2081=)
c.6054T>A (p.Leu2018=)
c.4458T>A (p.Leu1486=)
n.6594T>A
6g.51912380_51912383delCA645561175PKHD1c.6315_6318del (p.Tyr2105Ter)
c.5673_5676del (p.Tyr1891Ter)
c.5604_5607del (p.Tyr1868Ter)
c.390_393del (p.Tyr130Ter)
c.6240_6243del (p.Tyr2080Ter)
c.6051_6054del (p.Tyr2017Ter)
c.4455_4458del (p.Tyr1485Ter)
n.6591_6594del
 COSMIC COSMIC
6g.51912381A=CA1628583291PKHD1c.6317T= (p.Leu2106=)
c.5675T= (p.Leu1892=)
c.5606T= (p.Leu1869=)
c.392T= (p.Leu131=)
c.6242T= (p.Leu2081=)
c.6053T= (p.Leu2018=)
c.4457T= (p.Leu1486=)
n.6593T=
6g.51912381A>CCA364439194PKHD1c.6317T>G (p.Leu2106Arg)
c.5675T>G (p.Leu1892Arg)
c.5606T>G (p.Leu1869Arg)
c.392T>G (p.Leu131Arg)
c.6242T>G (p.Leu2081Arg)
c.6053T>G (p.Leu2018Arg)
c.4457T>G (p.Leu1486Arg)
n.6593T>G
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.51912381A>GCA364439198PKHD1c.6317T>C (p.Leu2106Pro)
c.5675T>C (p.Leu1892Pro)
c.5606T>C (p.Leu1869Pro)
c.392T>C (p.Leu131Pro)
c.6242T>C (p.Leu2081Pro)
c.6053T>C (p.Leu2018Pro)
c.4457T>C (p.Leu1486Pro)
n.6593T>C
6g.51912381A>TCA364439196PKHD1c.6317T>A (p.Leu2106His)
c.5675T>A (p.Leu1892His)
c.5606T>A (p.Leu1869His)
c.392T>A (p.Leu131His)
c.6242T>A (p.Leu2081His)
c.6053T>A (p.Leu2018His)
c.4457T>A (p.Leu1486His)
n.6593T>A
6g.51912381_51912398delCA913110698PKHD1c.6300_6317del (p.Gln2100_Leu2106delinsHis)
c.5658_5675del (p.Gln1886_Leu1892delinsHis)
c.5589_5606del (p.Gln1863_Leu1869delinsHis)
c.375_392del (p.Gln125_Leu131delinsHis)
c.6225_6242del (p.Gln2075_Leu2081delinsHis)
c.6036_6053del (p.Gln2012_Leu2018delinsHis)
c.4440_4457del (p.Gln1480_Leu1486delinsHis)
n.6576_6593del
6g.51912381_51912398delinsAGATAGAGGTCTGTATCCCA1628583292PKHD1c.6300_6317delinsGGATACAGACCTCTATCT (p.Gln2100=)
c.5658_5675delinsGGATACAGACCTCTATCT (p.Gln1886=)
c.5589_5606delinsGGATACAGACCTCTATCT (p.Gln1863=)
c.375_392delinsGGATACAGACCTCTATCT (p.Gln125=)
c.6225_6242delinsGGATACAGACCTCTATCT (p.Gln2075=)
c.6036_6053delinsGGATACAGACCTCTATCT (p.Gln2012=)
c.4440_4457delinsGGATACAGACCTCTATCT (p.Gln1480=)
n.6576_6593delinsGGATACAGACCTCTATCT
6g.51912382G>ACA364439201PKHD1c.6316C>T (p.Leu2106Phe)
c.5674C>T (p.Leu1892Phe)
c.5605C>T (p.Leu1869Phe)
c.391C>T (p.Leu131Phe)
c.6241C>T (p.Leu2081Phe)
c.6052C>T (p.Leu2018Phe)
c.4456C>T (p.Leu1486Phe)
n.6592C>T
 COSMIC COSMIC
6g.51912382G>CCA364439204PKHD1c.6316C>G (p.Leu2106Val)
c.5674C>G (p.Leu1892Val)
c.5605C>G (p.Leu1869Val)
c.391C>G (p.Leu131Val)
c.6241C>G (p.Leu2081Val)
c.6052C>G (p.Leu2018Val)
c.4456C>G (p.Leu1486Val)
n.6592C>G
 gnomAD v4
6g.51912382G>TCA364439206PKHD1c.6316C>A (p.Leu2106Ile)
c.5674C>A (p.Leu1892Ile)
c.5605C>A (p.Leu1869Ile)
c.391C>A (p.Leu131Ile)
c.6241C>A (p.Leu2081Ile)
c.6052C>A (p.Leu2018Ile)
c.4456C>A (p.Leu1486Ile)
n.6592C>A
6g.51912382_51912398delCA658822584PKHD1c.6300_6316del (p.Gln2100HisfsTer2)
c.5658_5674del (p.Gln1886HisfsTer2)
c.5589_5605del (p.Gln1863HisfsTer2)
c.375_391del (p.Gln125HisfsTer2)
c.6225_6241del (p.Gln2075HisfsTer2)
c.6036_6052del (p.Gln2012HisfsTer2)
c.4440_4456del (p.Gln1480HisfsTer2)
n.6576_6592del
 ClinVar dbSNP
6g.51912383A=CA1628583296PKHD1c.6315T= (p.Tyr2105=)
c.5673T= (p.Tyr1891=)
c.5604T= (p.Tyr1868=)
c.390T= (p.Tyr130=)
c.6240T= (p.Tyr2080=)
c.6051T= (p.Tyr2017=)
c.4455T= (p.Tyr1485=)
n.6591T=
6g.51912383A>CCA364439209PKHD1c.6315T>G (p.Tyr2105Ter)
c.5673T>G (p.Tyr1891Ter)
c.5604T>G (p.Tyr1868Ter)
c.390T>G (p.Tyr130Ter)
c.6240T>G (p.Tyr2080Ter)
c.6051T>G (p.Tyr2017Ter)
c.4455T>G (p.Tyr1485Ter)
n.6591T>G
6g.51912383A>GCA450415924PKHD1c.6315T>C (p.Tyr2105=)
c.5673T>C (p.Tyr1891=)
c.5604T>C (p.Tyr1868=)
c.390T>C (p.Tyr130=)
c.6240T>C (p.Tyr2080=)
c.6051T>C (p.Tyr2017=)
c.4455T>C (p.Tyr1485=)
n.6591T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.51912383A>TCA364439211PKHD1c.6315T>A (p.Tyr2105Ter)
c.5673T>A (p.Tyr1891Ter)
c.5604T>A (p.Tyr1868Ter)
c.390T>A (p.Tyr130Ter)
c.6240T>A (p.Tyr2080Ter)
c.6051T>A (p.Tyr2017Ter)
c.4455T>A (p.Tyr1485Ter)
n.6591T>A
6g.51912384T>ACA364439213PKHD1c.6314A>T (p.Tyr2105Phe)
c.5672A>T (p.Tyr1891Phe)
c.5603A>T (p.Tyr1868Phe)
c.389A>T (p.Tyr130Phe)
c.6239A>T (p.Tyr2080Phe)
c.6050A>T (p.Tyr2017Phe)
c.4454A>T (p.Tyr1485Phe)
n.6590A>T
6g.51912384T>CCA364439216PKHD1c.6314A>G (p.Tyr2105Cys)
c.5672A>G (p.Tyr1891Cys)
c.5603A>G (p.Tyr1868Cys)
c.389A>G (p.Tyr130Cys)
c.6239A>G (p.Tyr2080Cys)
c.6050A>G (p.Tyr2017Cys)
c.4454A>G (p.Tyr1485Cys)
n.6590A>G
 ClinVar dbSNP gnomAD v4
6g.51912384T>GCA364439218PKHD1c.6314A>C (p.Tyr2105Ser)
c.5672A>C (p.Tyr1891Ser)
c.5603A>C (p.Tyr1868Ser)
c.389A>C (p.Tyr130Ser)
c.6239A>C (p.Tyr2080Ser)
c.6050A>C (p.Tyr2017Ser)
c.4454A>C (p.Tyr1485Ser)
n.6590A>C
6g.51912385A>CCA364439219PKHD1c.6313T>G (p.Tyr2105Asp)
c.5671T>G (p.Tyr1891Asp)
c.5602T>G (p.Tyr1868Asp)
c.388T>G (p.Tyr130Asp)
c.6238T>G (p.Tyr2080Asp)
c.6049T>G (p.Tyr2017Asp)
c.4453T>G (p.Tyr1485Asp)
n.6589T>G
 gnomAD v4
6g.51912385A>GCA364439220PKHD1c.6313T>C (p.Tyr2105His)
c.5671T>C (p.Tyr1891His)
c.5602T>C (p.Tyr1868His)
c.388T>C (p.Tyr130His)
c.6238T>C (p.Tyr2080His)
c.6049T>C (p.Tyr2017His)
c.4453T>C (p.Tyr1485His)
n.6589T>C
 gnomAD v4
6g.51912385A>TCA364439221PKHD1c.6313T>A (p.Tyr2105Asn)
c.5671T>A (p.Tyr1891Asn)
c.5602T>A (p.Tyr1868Asn)
c.388T>A (p.Tyr130Asn)
c.6238T>A (p.Tyr2080Asn)
c.6049T>A (p.Tyr2017Asn)
c.4453T>A (p.Tyr1485Asn)
n.6589T>A
6g.51912387_51912388delCA2695198866PKHD1c.6312_6313del (p.Tyr2105SerfsTer2)
c.5670_5671del (p.Tyr1891SerfsTer2)
c.5601_5602del (p.Tyr1868SerfsTer2)
c.387_388del (p.Tyr130SerfsTer2)
c.6237_6238del (p.Tyr2080SerfsTer2)
c.6048_6049del (p.Tyr2017SerfsTer2)
c.4452_4453del (p.Tyr1485SerfsTer2)
n.6588_6589del
 ClinVar
6g.51912386G>ACA450415927PKHD1c.6312C>T (p.Leu2104=)
c.5670C>T (p.Leu1890=)
c.5601C>T (p.Leu1867=)
c.387C>T (p.Leu129=)
c.6237C>T (p.Leu2079=)
c.6048C>T (p.Leu2016=)
c.4452C>T (p.Leu1484=)
n.6588C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51912386G>CCA450415926PKHD1c.6312C>G (p.Leu2104=)
c.5670C>G (p.Leu1890=)
c.5601C>G (p.Leu1867=)
c.387C>G (p.Leu129=)
c.6237C>G (p.Leu2079=)
c.6048C>G (p.Leu2016=)
c.4452C>G (p.Leu1484=)
n.6588C>G
6g.51912386G=CA1628583297PKHD1c.6312C= (p.Leu2104=)
c.5670C= (p.Leu1890=)
c.5601C= (p.Leu1867=)
c.387C= (p.Leu129=)
c.6237C= (p.Leu2079=)
c.6048C= (p.Leu2016=)
c.4452C= (p.Leu1484=)
n.6588C=
6g.51912386G>TCA450415925PKHD1c.6312C>A (p.Leu2104=)
c.5670C>A (p.Leu1890=)
c.5601C>A (p.Leu1867=)
c.387C>A (p.Leu129=)
c.6237C>A (p.Leu2079=)
c.6048C>A (p.Leu2016=)
c.4452C>A (p.Leu1484=)
n.6588C>A
6g.51912387A>CCA364439227PKHD1c.6311T>G (p.Leu2104Arg)
c.5669T>G (p.Leu1890Arg)
c.5600T>G (p.Leu1867Arg)
c.386T>G (p.Leu129Arg)
c.6236T>G (p.Leu2079Arg)
c.6047T>G (p.Leu2016Arg)
c.4451T>G (p.Leu1484Arg)
n.6587T>G
 ClinVar
6g.51912387A>GCA364439228PKHD1c.6311T>C (p.Leu2104Pro)
c.5669T>C (p.Leu1890Pro)
c.5600T>C (p.Leu1867Pro)
c.386T>C (p.Leu129Pro)
c.6236T>C (p.Leu2079Pro)
c.6047T>C (p.Leu2016Pro)
c.4451T>C (p.Leu1484Pro)
n.6587T>C
6g.51912387A>TCA364439225PKHD1c.6311T>A (p.Leu2104His)
c.5669T>A (p.Leu1890His)
c.5600T>A (p.Leu1867His)
c.386T>A (p.Leu129His)
c.6236T>A (p.Leu2079His)
c.6047T>A (p.Leu2016His)
c.4451T>A (p.Leu1484His)
n.6587T>A
6g.51912388G>ACA364439230PKHD1c.6310C>T (p.Leu2104Phe)
c.5668C>T (p.Leu1890Phe)
c.5599C>T (p.Leu1867Phe)
c.385C>T (p.Leu129Phe)
c.6235C>T (p.Leu2079Phe)
c.6046C>T (p.Leu2016Phe)
c.4450C>T (p.Leu1484Phe)
n.6586C>T
6g.51912388G>CCA364439232PKHD1c.6310C>G (p.Leu2104Val)
c.5668C>G (p.Leu1890Val)
c.5599C>G (p.Leu1867Val)
c.385C>G (p.Leu129Val)
c.6235C>G (p.Leu2079Val)
c.6046C>G (p.Leu2016Val)
c.4450C>G (p.Leu1484Val)
n.6586C>G
 gnomAD v4
6g.51912388G=CA1628583298PKHD1c.6310C= (p.Leu2104=)
c.5668C= (p.Leu1890=)
c.5599C= (p.Leu1867=)
c.385C= (p.Leu129=)
c.6235C= (p.Leu2079=)
c.6046C= (p.Leu2016=)
c.4450C= (p.Leu1484=)
n.6586C=
6g.51912388G>TCA3852300PKHD1c.6310C>A (p.Leu2104Ile)
c.5668C>A (p.Leu1890Ile)
c.5599C>A (p.Leu1867Ile)
c.385C>A (p.Leu129Ile)
c.6235C>A (p.Leu2079Ile)
c.6046C>A (p.Leu2016Ile)
c.4450C>A (p.Leu1484Ile)
n.6586C>A
 dbSNP ExAC gnomAD v2
6g.51912389G>ACA450415928PKHD1c.6309C>T (p.Asp2103=)
c.5667C>T (p.Asp1889=)
c.5598C>T (p.Asp1866=)
c.384C>T (p.Asp128=)
c.6234C>T (p.Asp2078=)
c.6045C>T (p.Asp2015=)
c.4449C>T (p.Asp1483=)
n.6585C>T
6g.51912389G>CCA364439237PKHD1c.6309C>G (p.Asp2103Glu)
c.5667C>G (p.Asp1889Glu)
c.5598C>G (p.Asp1866Glu)
c.384C>G (p.Asp128Glu)
c.6234C>G (p.Asp2078Glu)
c.6045C>G (p.Asp2015Glu)
c.4449C>G (p.Asp1483Glu)
n.6585C>G
6g.51912389G=CA1628583301PKHD1c.6309C= (p.Asp2103=)
c.5667C= (p.Asp1889=)
c.5598C= (p.Asp1866=)
c.384C= (p.Asp128=)
c.6234C= (p.Asp2078=)
c.6045C= (p.Asp2015=)
c.4449C= (p.Asp1483=)
n.6585C=
6g.51912389G>TCA3852301PKHD1c.6309C>A (p.Asp2103Glu)
c.5667C>A (p.Asp1889Glu)
c.5598C>A (p.Asp1866Glu)
c.384C>A (p.Asp128Glu)
c.6234C>A (p.Asp2078Glu)
c.6045C>A (p.Asp2015Glu)
c.4449C>A (p.Asp1483Glu)
n.6585C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51912390T>ACA364439239PKHD1c.6308A>T (p.Asp2103Val)
c.5666A>T (p.Asp1889Val)
c.5597A>T (p.Asp1866Val)
c.383A>T (p.Asp128Val)
c.6233A>T (p.Asp2078Val)
c.6044A>T (p.Asp2015Val)
c.4448A>T (p.Asp1483Val)
n.6584A>T
6g.51912390T>CCA364439240PKHD1c.6308A>G (p.Asp2103Gly)
c.5666A>G (p.Asp1889Gly)
c.5597A>G (p.Asp1866Gly)
c.383A>G (p.Asp128Gly)
c.6233A>G (p.Asp2078Gly)
c.6044A>G (p.Asp2015Gly)
c.4448A>G (p.Asp1483Gly)
n.6584A>G
 gnomAD v4
6g.51912390T>GCA364439242PKHD1c.6308A>C (p.Asp2103Ala)
c.5666A>C (p.Asp1889Ala)
c.5597A>C (p.Asp1866Ala)
c.383A>C (p.Asp128Ala)
c.6233A>C (p.Asp2078Ala)
c.6044A>C (p.Asp2015Ala)
c.4448A>C (p.Asp1483Ala)
n.6584A>C
6g.51912391C>ACA364439245PKHD1c.6307G>T (p.Asp2103Tyr)
c.5665G>T (p.Asp1889Tyr)
c.5596G>T (p.Asp1866Tyr)
c.382G>T (p.Asp128Tyr)
c.6232G>T (p.Asp2078Tyr)
c.6043G>T (p.Asp2015Tyr)
c.4447G>T (p.Asp1483Tyr)
n.6583G>T
6g.51912391C>GCA364439247PKHD1c.6307G>C (p.Asp2103His)
c.5665G>C (p.Asp1889His)
c.5596G>C (p.Asp1866His)
c.382G>C (p.Asp128His)
c.6232G>C (p.Asp2078His)
c.6043G>C (p.Asp2015His)
c.4447G>C (p.Asp1483His)
n.6583G>C
6g.51912391C>TCA364439249PKHD1c.6307G>A (p.Asp2103Asn)
c.5665G>A (p.Asp1889Asn)
c.5596G>A (p.Asp1866Asn)
c.382G>A (p.Asp128Asn)
c.6232G>A (p.Asp2078Asn)
c.6043G>A (p.Asp2015Asn)
c.4447G>A (p.Asp1483Asn)
n.6583G>A
 gnomAD v4
6g.51912392T>ACA450415929PKHD1c.6306A>T (p.Thr2102=)
c.5664A>T (p.Thr1888=)
c.5595A>T (p.Thr1865=)
c.381A>T (p.Thr127=)
c.6231A>T (p.Thr2077=)
c.6042A>T (p.Thr2014=)
c.4446A>T (p.Thr1482=)
n.6582A>T
6g.51912392T>CCA3852302PKHD1c.6306A>G (p.Thr2102=)
c.5664A>G (p.Thr1888=)
c.5595A>G (p.Thr1865=)
c.381A>G (p.Thr127=)
c.6231A>G (p.Thr2077=)
c.6042A>G (p.Thr2014=)
c.4446A>G (p.Thr1482=)
n.6582A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51912392T>GCA450415930PKHD1c.6306A>C (p.Thr2102=)
c.5664A>C (p.Thr1888=)
c.5595A>C (p.Thr1865=)
c.381A>C (p.Thr127=)
c.6231A>C (p.Thr2077=)
c.6042A>C (p.Thr2014=)
c.4446A>C (p.Thr1482=)
n.6582A>C
6g.51912392T=CA1628583305PKHD1c.6306A= (p.Thr2102=)
c.5664A= (p.Thr1888=)
c.5595A= (p.Thr1865=)
c.381A= (p.Thr127=)
c.6231A= (p.Thr2077=)
c.6042A= (p.Thr2014=)
c.4446A= (p.Thr1482=)
n.6582A=
6g.51912393G>ACA364439255PKHD1c.6305C>T (p.Thr2102Ile)
c.5663C>T (p.Thr1888Ile)
c.5594C>T (p.Thr1865Ile)
c.380C>T (p.Thr127Ile)
c.6230C>T (p.Thr2077Ile)
c.6041C>T (p.Thr2014Ile)
c.4445C>T (p.Thr1482Ile)
n.6581C>T
6g.51912393G>CCA364439257PKHD1c.6305C>G (p.Thr2102Arg)
c.5663C>G (p.Thr1888Arg)
c.5594C>G (p.Thr1865Arg)
c.380C>G (p.Thr127Arg)
c.6230C>G (p.Thr2077Arg)
c.6041C>G (p.Thr2014Arg)
c.4445C>G (p.Thr1482Arg)
n.6581C>G
6g.51912393G=CA1628583307PKHD1c.6305C= (p.Thr2102=)
c.5663C= (p.Thr1888=)
c.5594C= (p.Thr1865=)
c.380C= (p.Thr127=)
c.6230C= (p.Thr2077=)
c.6041C= (p.Thr2014=)
c.4445C= (p.Thr1482=)
n.6581C=
6g.51912393G>TCA3852303PKHD1c.6305C>A (p.Thr2102Lys)
c.5663C>A (p.Thr1888Lys)
c.5594C>A (p.Thr1865Lys)
c.380C>A (p.Thr127Lys)
c.6230C>A (p.Thr2077Lys)
c.6041C>A (p.Thr2014Lys)
c.4445C>A (p.Thr1482Lys)
n.6581C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51912394T>ACA364439260PKHD1c.6304A>T (p.Thr2102Ser)
c.5662A>T (p.Thr1888Ser)
c.5593A>T (p.Thr1865Ser)
c.379A>T (p.Thr127Ser)
c.6229A>T (p.Thr2077Ser)
c.6040A>T (p.Thr2014Ser)
c.4444A>T (p.Thr1482Ser)
n.6580A>T
6g.51912394T>CCA364439261PKHD1c.6304A>G (p.Thr2102Ala)
c.5662A>G (p.Thr1888Ala)
c.5593A>G (p.Thr1865Ala)
c.379A>G (p.Thr127Ala)
c.6229A>G (p.Thr2077Ala)
c.6040A>G (p.Thr2014Ala)
c.4444A>G (p.Thr1482Ala)
n.6580A>G
6g.51912394T>GCA364439262PKHD1c.6304A>C (p.Thr2102Pro)
c.5662A>C (p.Thr1888Pro)
c.5593A>C (p.Thr1865Pro)
c.379A>C (p.Thr127Pro)
c.6229A>C (p.Thr2077Pro)
c.6040A>C (p.Thr2014Pro)
c.4444A>C (p.Thr1482Pro)
n.6580A>C
6g.51912394_51912411delCA2679081919PKHD1c.6287_6304del (p.Val2096_Thr2102delinsAla)
c.5645_5662del (p.Val1882_Thr1888delinsAla)
c.5576_5593del (p.Val1859_Thr1865delinsAla)
c.362_379del (p.Val121_Thr127delinsAla)
c.6212_6229del (p.Val2071_Thr2077delinsAla)
c.6023_6040del (p.Val2008_Thr2014delinsAla)
c.4427_4444del (p.Val1476_Thr1482delinsAla)
n.6563_6580del
 gnomAD v4
6g.51912395A>CCA364439264PKHD1c.6303T>G (p.Asp2101Glu)
c.5661T>G (p.Asp1887Glu)
c.5592T>G (p.Asp1864Glu)
c.378T>G (p.Asp126Glu)
c.6228T>G (p.Asp2076Glu)
c.6039T>G (p.Asp2013Glu)
c.4443T>G (p.Asp1481Glu)
n.6579T>G
6g.51912395A>GCA450415931PKHD1c.6303T>C (p.Asp2101=)
c.5661T>C (p.Asp1887=)
c.5592T>C (p.Asp1864=)
c.378T>C (p.Asp126=)
c.6228T>C (p.Asp2076=)
c.6039T>C (p.Asp2013=)
c.4443T>C (p.Asp1481=)
n.6579T>C
6g.51912395A>TCA364439266PKHD1c.6303T>A (p.Asp2101Glu)
c.5661T>A (p.Asp1887Glu)
c.5592T>A (p.Asp1864Glu)
c.378T>A (p.Asp126Glu)
c.6228T>A (p.Asp2076Glu)
c.6039T>A (p.Asp2013Glu)
c.4443T>A (p.Asp1481Glu)
n.6579T>A
6g.51912396T>ACA364439272PKHD1c.6302A>T (p.Asp2101Val)
c.5660A>T (p.Asp1887Val)
c.5591A>T (p.Asp1864Val)
c.377A>T (p.Asp126Val)
c.6227A>T (p.Asp2076Val)
c.6038A>T (p.Asp2013Val)
c.4442A>T (p.Asp1481Val)
n.6578A>T
6g.51912396T>CCA364439270PKHD1c.6302A>G (p.Asp2101Gly)
c.5660A>G (p.Asp1887Gly)
c.5591A>G (p.Asp1864Gly)
c.377A>G (p.Asp126Gly)
c.6227A>G (p.Asp2076Gly)
c.6038A>G (p.Asp2013Gly)
c.4442A>G (p.Asp1481Gly)
n.6578A>G
6g.51912396T>GCA364439269PKHD1c.6302A>C (p.Asp2101Ala)
c.5660A>C (p.Asp1887Ala)
c.5591A>C (p.Asp1864Ala)
c.377A>C (p.Asp126Ala)
c.6227A>C (p.Asp2076Ala)
c.6038A>C (p.Asp2013Ala)
c.4442A>C (p.Asp1481Ala)
n.6578A>C
6g.51912397C>ACA364439275PKHD1c.6301G>T (p.Asp2101Tyr)
c.5659G>T (p.Asp1887Tyr)
c.5590G>T (p.Asp1864Tyr)
c.376G>T (p.Asp126Tyr)
c.6226G>T (p.Asp2076Tyr)
c.6037G>T (p.Asp2013Tyr)
c.4441G>T (p.Asp1481Tyr)
n.6577G>T
6g.51912397C>GCA364439277PKHD1c.6301G>C (p.Asp2101His)
c.5659G>C (p.Asp1887His)
c.5590G>C (p.Asp1864His)
c.376G>C (p.Asp126His)
c.6226G>C (p.Asp2076His)
c.6037G>C (p.Asp2013His)
c.4441G>C (p.Asp1481His)
n.6577G>C
6g.51912397C>TCA364439279PKHD1c.6301G>A (p.Asp2101Asn)
c.5659G>A (p.Asp1887Asn)
c.5590G>A (p.Asp1864Asn)
c.376G>A (p.Asp126Asn)
c.6226G>A (p.Asp2076Asn)
c.6037G>A (p.Asp2013Asn)
c.4441G>A (p.Asp1481Asn)
n.6577G>A
6g.51912398C>ACA364439281PKHD1c.6300G>T (p.Gln2100His)
c.5658G>T (p.Gln1886His)
c.5589G>T (p.Gln1863His)
c.375G>T (p.Gln125His)
c.6225G>T (p.Gln2075His)
c.6036G>T (p.Gln2012His)
c.4440G>T (p.Gln1480His)
n.6576G>T
 COSMIC COSMIC
6g.51912398C=CA1628583311PKHD1c.6300G= (p.Gln2100=)
c.5658G= (p.Gln1886=)
c.5589G= (p.Gln1863=)
c.375G= (p.Gln125=)
c.6225G= (p.Gln2075=)
c.6036G= (p.Gln2012=)
c.4440G= (p.Gln1480=)
n.6576G=
6g.51912398C>GCA364439282PKHD1c.6300G>C (p.Gln2100His)
c.5658G>C (p.Gln1886His)
c.5589G>C (p.Gln1863His)
c.375G>C (p.Gln125His)
c.6225G>C (p.Gln2075His)
c.6036G>C (p.Gln2012His)
c.4440G>C (p.Gln1480His)
n.6576G>C
6g.51912398C>TCA3852304PKHD1c.6300G>A (p.Gln2100=)
c.5658G>A (p.Gln1886=)
c.5589G>A (p.Gln1863=)
c.375G>A (p.Gln125=)
c.6225G>A (p.Gln2075=)
c.6036G>A (p.Gln2012=)
c.4440G>A (p.Gln1480=)
n.6576G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51912399T>ACA364439288PKHD1c.6299A>T (p.Gln2100Leu)
c.5657A>T (p.Gln1886Leu)
c.5588A>T (p.Gln1863Leu)
c.374A>T (p.Gln125Leu)
c.6224A>T (p.Gln2075Leu)
c.6035A>T (p.Gln2012Leu)
c.4439A>T (p.Gln1480Leu)
n.6575A>T
6g.51912399T>CCA364439286PKHD1c.6299A>G (p.Gln2100Arg)
c.5657A>G (p.Gln1886Arg)
c.5588A>G (p.Gln1863Arg)
c.374A>G (p.Gln125Arg)
c.6224A>G (p.Gln2075Arg)
c.6035A>G (p.Gln2012Arg)
c.4439A>G (p.Gln1480Arg)
n.6575A>G
6g.51912399T>GCA364439284PKHD1c.6299A>C (p.Gln2100Pro)
c.5657A>C (p.Gln1886Pro)
c.5588A>C (p.Gln1863Pro)
c.374A>C (p.Gln125Pro)
c.6224A>C (p.Gln2075Pro)
c.6035A>C (p.Gln2012Pro)
c.4439A>C (p.Gln1480Pro)
n.6575A>C
6g.51912400G>ACA364439292PKHD1c.6298C>T (p.Gln2100Ter)
c.5656C>T (p.Gln1886Ter)
c.5587C>T (p.Gln1863Ter)
c.373C>T (p.Gln125Ter)
c.6223C>T (p.Gln2075Ter)
c.6034C>T (p.Gln2012Ter)
c.4438C>T (p.Gln1480Ter)
n.6574C>T
6g.51912400G>CCA364439294PKHD1c.6298C>G (p.Gln2100Glu)
c.5656C>G (p.Gln1886Glu)
c.5587C>G (p.Gln1863Glu)
c.373C>G (p.Gln125Glu)
c.6223C>G (p.Gln2075Glu)
c.6034C>G (p.Gln2012Glu)
c.4438C>G (p.Gln1480Glu)
n.6574C>G
6g.51912400G>TCA364439296PKHD1c.6298C>A (p.Gln2100Lys)
c.5656C>A (p.Gln1886Lys)
c.5587C>A (p.Gln1863Lys)
c.373C>A (p.Gln125Lys)
c.6223C>A (p.Gln2075Lys)
c.6034C>A (p.Gln2012Lys)
c.4438C>A (p.Gln1480Lys)
n.6574C>A
6g.51912400_51912402delinsGCACA1628583314PKHD1c.6296_6298delinsTGC (p.Val2099=)
c.5654_5656delinsTGC (p.Val1885=)
c.5585_5587delinsTGC (p.Val1862=)
c.371_373delinsTGC (p.Val124=)
c.6221_6223delinsTGC (p.Val2074=)
c.6032_6034delinsTGC (p.Val2011=)
c.4436_4438delinsTGC (p.Val1479=)
n.6572_6574delinsTGC
6g.51912401C>ACA450415932PKHD1c.6297G>T (p.Val2099=)
c.5655G>T (p.Val1885=)
c.5586G>T (p.Val1862=)
c.372G>T (p.Val124=)
c.6222G>T (p.Val2074=)
c.6033G>T (p.Val2011=)
c.4437G>T (p.Val1479=)
n.6573G>T
6g.51912401C=CA1628583317PKHD1c.6297G= (p.Val2099=)
c.5655G= (p.Val1885=)
c.5586G= (p.Val1862=)
c.372G= (p.Val124=)
c.6222G= (p.Val2074=)
c.6033G= (p.Val2011=)
c.4437G= (p.Val1479=)
n.6573G=
6g.51912401C>GCA450415933PKHD1c.6297G>C (p.Val2099=)
c.5655G>C (p.Val1885=)
c.5586G>C (p.Val1862=)
c.372G>C (p.Val124=)
c.6222G>C (p.Val2074=)
c.6033G>C (p.Val2011=)
c.4437G>C (p.Val1479=)
n.6573G>C
6g.51912401C>TCA3852305PKHD1c.6297G>A (p.Val2099=)
c.5655G>A (p.Val1885=)
c.5586G>A (p.Val1862=)
c.372G>A (p.Val124=)
c.6222G>A (p.Val2074=)
c.6033G>A (p.Val2011=)
c.4437G>A (p.Val1479=)
n.6573G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51912403_51912404delCA138910818PKHD1c.6296_6297del (p.Val2099AlafsTer8)
c.5654_5655del (p.Val1885AlafsTer8)
c.5585_5586del (p.Val1862AlafsTer8)
c.371_372del (p.Val124AlafsTer8)
c.6221_6222del (p.Val2074AlafsTer8)
c.6032_6033del (p.Val2011AlafsTer8)
c.4436_4437del (p.Val1479AlafsTer8)
n.6572_6573del
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.51912402A>CCA364439299PKHD1c.6296T>G (p.Val2099Gly)
c.5654T>G (p.Val1885Gly)
c.5585T>G (p.Val1862Gly)
c.371T>G (p.Val124Gly)
c.6221T>G (p.Val2074Gly)
c.6032T>G (p.Val2011Gly)
c.4436T>G (p.Val1479Gly)
n.6572T>G
6g.51912402A>GCA364439301PKHD1c.6296T>C (p.Val2099Ala)
c.5654T>C (p.Val1885Ala)
c.5585T>C (p.Val1862Ala)
c.371T>C (p.Val124Ala)
c.6221T>C (p.Val2074Ala)
c.6032T>C (p.Val2011Ala)
c.4436T>C (p.Val1479Ala)
n.6572T>C
6g.51912402A>TCA364439303PKHD1c.6296T>A (p.Val2099Glu)
c.5654T>A (p.Val1885Glu)
c.5585T>A (p.Val1862Glu)
c.371T>A (p.Val124Glu)
c.6221T>A (p.Val2074Glu)
c.6032T>A (p.Val2011Glu)
c.4436T>A (p.Val1479Glu)
n.6572T>A
6g.51912403C>ACA364439306PKHD1c.6295G>T (p.Val2099Leu)
c.5653G>T (p.Val1885Leu)
c.5584G>T (p.Val1862Leu)
c.370G>T (p.Val124Leu)
c.6220G>T (p.Val2074Leu)
c.6031G>T (p.Val2011Leu)
c.4435G>T (p.Val1479Leu)
n.6571G>T
6g.51912403C>GCA364439308PKHD1c.6295G>C (p.Val2099Leu)
c.5653G>C (p.Val1885Leu)
c.5584G>C (p.Val1862Leu)
c.370G>C (p.Val124Leu)
c.6220G>C (p.Val2074Leu)
c.6031G>C (p.Val2011Leu)
c.4435G>C (p.Val1479Leu)
n.6571G>C
6g.51912403C>TCA364439310PKHD1c.6295G>A (p.Val2099Met)
c.5653G>A (p.Val1885Met)
c.5584G>A (p.Val1862Met)
c.370G>A (p.Val124Met)
c.6220G>A (p.Val2074Met)
c.6031G>A (p.Val2011Met)
c.4435G>A (p.Val1479Met)
n.6571G>A
 gnomAD v4
6g.51912404A=CA1628583324PKHD1c.6294T= (p.Thr2098=)
c.5652T= (p.Thr1884=)
c.5583T= (p.Thr1861=)
c.369T= (p.Thr123=)
c.6219T= (p.Thr2073=)
c.6030T= (p.Thr2010=)
c.4434T= (p.Thr1478=)
n.6570T=
6g.51912404A>CCA450415934PKHD1c.6294T>G (p.Thr2098=)
c.5652T>G (p.Thr1884=)
c.5583T>G (p.Thr1861=)
c.369T>G (p.Thr123=)
c.6219T>G (p.Thr2073=)
c.6030T>G (p.Thr2010=)
c.4434T>G (p.Thr1478=)
n.6570T>G
 ClinVar
6g.51912404A>GCA450415935PKHD1c.6294T>C (p.Thr2098=)
c.5652T>C (p.Thr1884=)
c.5583T>C (p.Thr1861=)
c.369T>C (p.Thr123=)
c.6219T>C (p.Thr2073=)
c.6030T>C (p.Thr2010=)
c.4434T>C (p.Thr1478=)
n.6570T>C
 gnomAD v4
6g.51912404A>TCA138910820PKHD1c.6294T>A (p.Thr2098=)
c.5652T>A (p.Thr1884=)
c.5583T>A (p.Thr1861=)
c.369T>A (p.Thr123=)
c.6219T>A (p.Thr2073=)
c.6030T>A (p.Thr2010=)
c.4434T>A (p.Thr1478=)
n.6570T>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.51912405G>ACA364439313PKHD1c.6293C>T (p.Thr2098Ile)
c.5651C>T (p.Thr1884Ile)
c.5582C>T (p.Thr1861Ile)
c.368C>T (p.Thr123Ile)
c.6218C>T (p.Thr2073Ile)
c.6029C>T (p.Thr2010Ile)
c.4433C>T (p.Thr1478Ile)
n.6569C>T
 dbSNP gnomAD v4
6g.51912405G>CCA364439315PKHD1c.6293C>G (p.Thr2098Ser)
c.5651C>G (p.Thr1884Ser)
c.5582C>G (p.Thr1861Ser)
c.368C>G (p.Thr123Ser)
c.6218C>G (p.Thr2073Ser)
c.6029C>G (p.Thr2010Ser)
c.4433C>G (p.Thr1478Ser)
n.6569C>G
 gnomAD v4
6g.51912405G=CA1628583329PKHD1c.6293C= (p.Thr2098=)
c.5651C= (p.Thr1884=)
c.5582C= (p.Thr1861=)
c.368C= (p.Thr123=)
c.6218C= (p.Thr2073=)
c.6029C= (p.Thr2010=)
c.4433C= (p.Thr1478=)
n.6569C=
6g.51912405G>TCA364439317PKHD1c.6293C>A (p.Thr2098Asn)
c.5651C>A (p.Thr1884Asn)
c.5582C>A (p.Thr1861Asn)
c.368C>A (p.Thr123Asn)
c.6218C>A (p.Thr2073Asn)
c.6029C>A (p.Thr2010Asn)
c.4433C>A (p.Thr1478Asn)
n.6569C>A
6g.51912406T>ACA364439323PKHD1c.6292A>T (p.Thr2098Ser)
c.5650A>T (p.Thr1884Ser)
c.5581A>T (p.Thr1861Ser)
c.367A>T (p.Thr123Ser)
c.6217A>T (p.Thr2073Ser)
c.6028A>T (p.Thr2010Ser)
c.4432A>T (p.Thr1478Ser)
n.6568A>T
6g.51912406T>CCA364439321PKHD1c.6292A>G (p.Thr2098Ala)
c.5650A>G (p.Thr1884Ala)
c.5581A>G (p.Thr1861Ala)
c.367A>G (p.Thr123Ala)
c.6217A>G (p.Thr2073Ala)
c.6028A>G (p.Thr2010Ala)
c.4432A>G (p.Thr1478Ala)
n.6568A>G
 gnomAD v4
6g.51912406T>GCA364439319PKHD1c.6292A>C (p.Thr2098Pro)
c.5650A>C (p.Thr1884Pro)
c.5581A>C (p.Thr1861Pro)
c.367A>C (p.Thr123Pro)
c.6217A>C (p.Thr2073Pro)
c.6028A>C (p.Thr2010Pro)
c.4432A>C (p.Thr1478Pro)
n.6568A>C
6g.51912407T>ACA364439326PKHD1c.6291A>T (p.Glu2097Asp)
c.5649A>T (p.Glu1883Asp)
c.5580A>T (p.Glu1860Asp)
c.366A>T (p.Glu122Asp)
c.6216A>T (p.Glu2072Asp)
c.6027A>T (p.Glu2009Asp)
c.4431A>T (p.Glu1477Asp)
n.6567A>T
6g.51912407T>CCA450415936PKHD1c.6291A>G (p.Glu2097=)
c.5649A>G (p.Glu1883=)
c.5580A>G (p.Glu1860=)
c.366A>G (p.Glu122=)
c.6216A>G (p.Glu2072=)
c.6027A>G (p.Glu2009=)
c.4431A>G (p.Glu1477=)
n.6567A>G
6g.51912407T>GCA364439327PKHD1c.6291A>C (p.Glu2097Asp)
c.5649A>C (p.Glu1883Asp)
c.5580A>C (p.Glu1860Asp)
c.366A>C (p.Glu122Asp)
c.6216A>C (p.Glu2072Asp)
c.6027A>C (p.Glu2009Asp)
c.4431A>C (p.Glu1477Asp)
n.6567A>C
6g.51912408T>ACA364439331PKHD1c.6290A>T (p.Glu2097Val)
c.5648A>T (p.Glu1883Val)
c.5579A>T (p.Glu1860Val)
c.365A>T (p.Glu122Val)
c.6215A>T (p.Glu2072Val)
c.6026A>T (p.Glu2009Val)
c.4430A>T (p.Glu1477Val)
n.6566A>T
6g.51912408T>CCA364439333PKHD1c.6290A>G (p.Glu2097Gly)
c.5648A>G (p.Glu1883Gly)
c.5579A>G (p.Glu1860Gly)
c.365A>G (p.Glu122Gly)
c.6215A>G (p.Glu2072Gly)
c.6026A>G (p.Glu2009Gly)
c.4430A>G (p.Glu1477Gly)
n.6566A>G
6g.51912408T>GCA364439335PKHD1c.6290A>C (p.Glu2097Ala)
c.5648A>C (p.Glu1883Ala)
c.5579A>C (p.Glu1860Ala)
c.365A>C (p.Glu122Ala)
c.6215A>C (p.Glu2072Ala)
c.6026A>C (p.Glu2009Ala)
c.4430A>C (p.Glu1477Ala)
n.6566A>C
6g.51912409C>ACA364439339PKHD1c.6289G>T (p.Glu2097Ter)
c.5647G>T (p.Glu1883Ter)
c.5578G>T (p.Glu1860Ter)
c.364G>T (p.Glu122Ter)
c.6214G>T (p.Glu2072Ter)
c.6025G>T (p.Glu2009Ter)
c.4429G>T (p.Glu1477Ter)
n.6565G>T
6g.51912409C>GCA364439341PKHD1c.6289G>C (p.Glu2097Gln)
c.5647G>C (p.Glu1883Gln)
c.5578G>C (p.Glu1860Gln)
c.364G>C (p.Glu122Gln)
c.6214G>C (p.Glu2072Gln)
c.6025G>C (p.Glu2009Gln)
c.4429G>C (p.Glu1477Gln)
n.6565G>C
6g.51912409C>TCA364439344PKHD1c.6289G>A (p.Glu2097Lys)
c.5647G>A (p.Glu1883Lys)
c.5578G>A (p.Glu1860Lys)
c.364G>A (p.Glu122Lys)
c.6214G>A (p.Glu2072Lys)
c.6025G>A (p.Glu2009Lys)
c.4429G>A (p.Glu1477Lys)
n.6565G>A
6g.51912410C>ACA450415939PKHD1c.6288G>T (p.Val2096=)
c.5646G>T (p.Val1882=)
c.5577G>T (p.Val1859=)
c.363G>T (p.Val121=)
c.6213G>T (p.Val2071=)
c.6024G>T (p.Val2008=)
c.4428G>T (p.Val1476=)
n.6564G>T
6g.51912410C=CA1628583331PKHD1c.6288G= (p.Val2096=)
c.5646G= (p.Val1882=)
c.5577G= (p.Val1859=)
c.363G= (p.Val121=)
c.6213G= (p.Val2071=)
c.6024G= (p.Val2008=)
c.4428G= (p.Val1476=)
n.6564G=
6g.51912410C>GCA450415938PKHD1c.6288G>C (p.Val2096=)
c.5646G>C (p.Val1882=)
c.5577G>C (p.Val1859=)
c.363G>C (p.Val121=)
c.6213G>C (p.Val2071=)
c.6024G>C (p.Val2008=)
c.4428G>C (p.Val1476=)
n.6564G>C
6g.51912410C>TCA450415937PKHD1c.6288G>A (p.Val2096=)
c.5646G>A (p.Val1882=)
c.5577G>A (p.Val1859=)
c.363G>A (p.Val121=)
c.6213G>A (p.Val2071=)
c.6024G>A (p.Val2008=)
c.4428G>A (p.Val1476=)
n.6564G>A
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched