Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51867860_51867909delCA2695206442PKHD1c.7691_7733+7del
c.7049_7091+7del
c.6980_7022+7del
c.1766_1808+7del
c.7616_7658+7del
c.7427_7469+7del
c.5831_5873+7del
n.7967_8009+7del
6g.51867888G>ACA364418194PKHD1c.7708C>T (p.Leu2570Phe)
c.7066C>T (p.Leu2356Phe)
c.6997C>T (p.Leu2333Phe)
c.1783C>T (p.Leu595Phe)
c.7633C>T (p.Leu2545Phe)
c.7444C>T (p.Leu2482Phe)
c.5848C>T (p.Leu1950Phe)
n.7984C>T
6g.51867888G>CCA364418196PKHD1c.7708C>G (p.Leu2570Val)
c.7066C>G (p.Leu2356Val)
c.6997C>G (p.Leu2333Val)
c.1783C>G (p.Leu595Val)
c.7633C>G (p.Leu2545Val)
c.7444C>G (p.Leu2482Val)
c.5848C>G (p.Leu1950Val)
n.7984C>G
6g.51867888G>TCA364418198PKHD1c.7708C>A (p.Leu2570Ile)
c.7066C>A (p.Leu2356Ile)
c.6997C>A (p.Leu2333Ile)
c.1783C>A (p.Leu595Ile)
c.7633C>A (p.Leu2545Ile)
c.7444C>A (p.Leu2482Ile)
c.5848C>A (p.Leu1950Ile)
n.7984C>A
6g.51867889A>CCA450614002PKHD1c.7707T>G (p.Val2569=)
c.7065T>G (p.Val2355=)
c.6996T>G (p.Val2332=)
c.1782T>G (p.Val594=)
c.7632T>G (p.Val2544=)
c.7443T>G (p.Val2481=)
c.5847T>G (p.Val1949=)
n.7983T>G
6g.51867889A>GCA450614004PKHD1c.7707T>C (p.Val2569=)
c.7065T>C (p.Val2355=)
c.6996T>C (p.Val2332=)
c.1782T>C (p.Val594=)
c.7632T>C (p.Val2544=)
c.7443T>C (p.Val2481=)
c.5847T>C (p.Val1949=)
n.7983T>C
6g.51867889A>TCA450614006PKHD1c.7707T>A (p.Val2569=)
c.7065T>A (p.Val2355=)
c.6996T>A (p.Val2332=)
c.1782T>A (p.Val594=)
c.7632T>A (p.Val2544=)
c.7443T>A (p.Val2481=)
c.5847T>A (p.Val1949=)
n.7983T>A
6g.51867890A>CCA364418200PKHD1c.7706T>G (p.Val2569Gly)
c.7064T>G (p.Val2355Gly)
c.6995T>G (p.Val2332Gly)
c.1781T>G (p.Val594Gly)
c.7631T>G (p.Val2544Gly)
c.7442T>G (p.Val2481Gly)
c.5846T>G (p.Val1949Gly)
n.7982T>G
6g.51867890A>GCA364418202PKHD1c.7706T>C (p.Val2569Ala)
c.7064T>C (p.Val2355Ala)
c.6995T>C (p.Val2332Ala)
c.1781T>C (p.Val594Ala)
c.7631T>C (p.Val2544Ala)
c.7442T>C (p.Val2481Ala)
c.5846T>C (p.Val1949Ala)
n.7982T>C
6g.51867890A>TCA364418204PKHD1c.7706T>A (p.Val2569Asp)
c.7064T>A (p.Val2355Asp)
c.6995T>A (p.Val2332Asp)
c.1781T>A (p.Val594Asp)
c.7631T>A (p.Val2544Asp)
c.7442T>A (p.Val2481Asp)
c.5846T>A (p.Val1949Asp)
n.7982T>A
6g.51867891C>ACA364418207PKHD1c.7705G>T (p.Val2569Phe)
c.7063G>T (p.Val2355Phe)
c.6994G>T (p.Val2332Phe)
c.1780G>T (p.Val594Phe)
c.7630G>T (p.Val2544Phe)
c.7441G>T (p.Val2481Phe)
c.5845G>T (p.Val1949Phe)
n.7981G>T
6g.51867891C=CA1628582932PKHD1c.7705G= (p.Val2569=)
c.7063G= (p.Val2355=)
c.6994G= (p.Val2332=)
c.1780G= (p.Val594=)
c.7630G= (p.Val2544=)
c.7441G= (p.Val2481=)
c.5845G= (p.Val1949=)
n.7981G=
6g.51867891C>GCA364418209PKHD1c.7705G>C (p.Val2569Leu)
c.7063G>C (p.Val2355Leu)
c.6994G>C (p.Val2332Leu)
c.1780G>C (p.Val594Leu)
c.7630G>C (p.Val2544Leu)
c.7441G>C (p.Val2481Leu)
c.5845G>C (p.Val1949Leu)
n.7981G>C
6g.51867891C>TCA364418206PKHD1c.7705G>A (p.Val2569Ile)
c.7063G>A (p.Val2355Ile)
c.6994G>A (p.Val2332Ile)
c.1780G>A (p.Val594Ile)
c.7630G>A (p.Val2544Ile)
c.7441G>A (p.Val2481Ile)
c.5845G>A (p.Val1949Ile)
n.7981G>A
 dbSNP gnomAD v3 gnomAD v4
6g.51867892A>CCA450614013PKHD1c.7704T>G (p.Gly2568=)
c.7062T>G (p.Gly2354=)
c.6993T>G (p.Gly2331=)
c.1779T>G (p.Gly593=)
c.7629T>G (p.Gly2543=)
c.7440T>G (p.Gly2480=)
c.5844T>G (p.Gly1948=)
n.7980T>G
6g.51867892A>GCA450614014PKHD1c.7704T>C (p.Gly2568=)
c.7062T>C (p.Gly2354=)
c.6993T>C (p.Gly2331=)
c.1779T>C (p.Gly593=)
c.7629T>C (p.Gly2543=)
c.7440T>C (p.Gly2480=)
c.5844T>C (p.Gly1948=)
n.7980T>C
6g.51867892A>TCA450614011PKHD1c.7704T>A (p.Gly2568=)
c.7062T>A (p.Gly2354=)
c.6993T>A (p.Gly2331=)
c.1779T>A (p.Gly593=)
c.7629T>A (p.Gly2543=)
c.7440T>A (p.Gly2480=)
c.5844T>A (p.Gly1948=)
n.7980T>A
6g.51867892_51867895delinsACCTCA1628582934PKHD1c.7701_7704delinsAGGT (p.Gly2567=)
c.7059_7062delinsAGGT (p.Gly2353=)
c.6990_6993delinsAGGT (p.Gly2330=)
c.1776_1779delinsAGGT (p.Gly592=)
c.7626_7629delinsAGGT (p.Gly2542=)
c.7437_7440delinsAGGT (p.Gly2479=)
c.5841_5844delinsAGGT (p.Gly1947=)
n.7977_7980delinsAGGT
6g.51867893C>ACA364418211PKHD1c.7703G>T (p.Gly2568Val)
c.7061G>T (p.Gly2354Val)
c.6992G>T (p.Gly2331Val)
c.1778G>T (p.Gly593Val)
c.7628G>T (p.Gly2543Val)
c.7439G>T (p.Gly2480Val)
c.5843G>T (p.Gly1948Val)
n.7979G>T
6g.51867893C>GCA364418213PKHD1c.7703G>C (p.Gly2568Ala)
c.7061G>C (p.Gly2354Ala)
c.6992G>C (p.Gly2331Ala)
c.1778G>C (p.Gly593Ala)
c.7628G>C (p.Gly2543Ala)
c.7439G>C (p.Gly2480Ala)
c.5843G>C (p.Gly1948Ala)
n.7979G>C
 gnomAD v4
6g.51867893C>TCA364418215PKHD1c.7703G>A (p.Gly2568Asp)
c.7061G>A (p.Gly2354Asp)
c.6992G>A (p.Gly2331Asp)
c.1778G>A (p.Gly593Asp)
c.7628G>A (p.Gly2543Asp)
c.7439G>A (p.Gly2480Asp)
c.5843G>A (p.Gly1948Asp)
n.7979G>A
6g.51867898_51867900delCA3851873PKHD1c.7701_7703del (p.Gly2568del)
c.7059_7061del (p.Gly2354del)
c.6990_6992del (p.Gly2331del)
c.1776_1778del (p.Gly593del)
c.7626_7628del (p.Gly2543del)
c.7437_7439del (p.Gly2480del)
c.5841_5843del (p.Gly1948del)
n.7977_7979del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51867894C>ACA364418221PKHD1c.7702G>T (p.Gly2568Cys)
c.7060G>T (p.Gly2354Cys)
c.6991G>T (p.Gly2331Cys)
c.1777G>T (p.Gly593Cys)
c.7627G>T (p.Gly2543Cys)
c.7438G>T (p.Gly2480Cys)
c.5842G>T (p.Gly1948Cys)
n.7978G>T
6g.51867894C=CA1628582937PKHD1c.7702G= (p.Gly2568=)
c.7060G= (p.Gly2354=)
c.6991G= (p.Gly2331=)
c.1777G= (p.Gly593=)
c.7627G= (p.Gly2543=)
c.7438G= (p.Gly2480=)
c.5842G= (p.Gly1948=)
n.7978G=
6g.51867894C>GCA364418219PKHD1c.7702G>C (p.Gly2568Arg)
c.7060G>C (p.Gly2354Arg)
c.6991G>C (p.Gly2331Arg)
c.1777G>C (p.Gly593Arg)
c.7627G>C (p.Gly2543Arg)
c.7438G>C (p.Gly2480Arg)
c.5842G>C (p.Gly1948Arg)
n.7978G>C
6g.51867894C>TCA138891248PKHD1c.7702G>A (p.Gly2568Ser)
c.7060G>A (p.Gly2354Ser)
c.6991G>A (p.Gly2331Ser)
c.1777G>A (p.Gly593Ser)
c.7627G>A (p.Gly2543Ser)
c.7438G>A (p.Gly2480Ser)
c.5842G>A (p.Gly1948Ser)
n.7978G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51867895T>ACA450614017PKHD1c.7701A>T (p.Gly2567=)
c.7059A>T (p.Gly2353=)
c.6990A>T (p.Gly2330=)
c.1776A>T (p.Gly592=)
c.7626A>T (p.Gly2542=)
c.7437A>T (p.Gly2479=)
c.5841A>T (p.Gly1947=)
n.7977A>T
 gnomAD v4
6g.51867895T>CCA450614018PKHD1c.7701A>G (p.Gly2567=)
c.7059A>G (p.Gly2353=)
c.6990A>G (p.Gly2330=)
c.1776A>G (p.Gly592=)
c.7626A>G (p.Gly2542=)
c.7437A>G (p.Gly2479=)
c.5841A>G (p.Gly1947=)
n.7977A>G
 dbSNP
6g.51867895T>GCA450614019PKHD1c.7701A>C (p.Gly2567=)
c.7059A>C (p.Gly2353=)
c.6990A>C (p.Gly2330=)
c.1776A>C (p.Gly592=)
c.7626A>C (p.Gly2542=)
c.7437A>C (p.Gly2479=)
c.5841A>C (p.Gly1947=)
n.7977A>C
6g.51867895T=CA1628582939PKHD1c.7701A= (p.Gly2567=)
c.7059A= (p.Gly2353=)
c.6990A= (p.Gly2330=)
c.1776A= (p.Gly592=)
c.7626A= (p.Gly2542=)
c.7437A= (p.Gly2479=)
c.5841A= (p.Gly1947=)
n.7977A=
6g.51867896C>ACA364418223PKHD1c.7700G>T (p.Gly2567Val)
c.7058G>T (p.Gly2353Val)
c.6989G>T (p.Gly2330Val)
c.1775G>T (p.Gly592Val)
c.7625G>T (p.Gly2542Val)
c.7436G>T (p.Gly2479Val)
c.5840G>T (p.Gly1947Val)
n.7976G>T
 dbSNP
6g.51867896C=CA1628582941PKHD1c.7700G= (p.Gly2567=)
c.7058G= (p.Gly2353=)
c.6989G= (p.Gly2330=)
c.1775G= (p.Gly592=)
c.7625G= (p.Gly2542=)
c.7436G= (p.Gly2479=)
c.5840G= (p.Gly1947=)
n.7976G=
6g.51867896C>GCA364418225PKHD1c.7700G>C (p.Gly2567Ala)
c.7058G>C (p.Gly2353Ala)
c.6989G>C (p.Gly2330Ala)
c.1775G>C (p.Gly592Ala)
c.7625G>C (p.Gly2542Ala)
c.7436G>C (p.Gly2479Ala)
c.5840G>C (p.Gly1947Ala)
n.7976G>C
6g.51867896C>TCA364418227PKHD1c.7700G>A (p.Gly2567Glu)
c.7058G>A (p.Gly2353Glu)
c.6989G>A (p.Gly2330Glu)
c.1775G>A (p.Gly592Glu)
c.7625G>A (p.Gly2542Glu)
c.7436G>A (p.Gly2479Glu)
c.5840G>A (p.Gly1947Glu)
n.7976G>A
6g.51867897C>ACA364418230PKHD1c.7699G>T (p.Gly2567Ter)
c.7057G>T (p.Gly2353Ter)
c.6988G>T (p.Gly2330Ter)
c.1774G>T (p.Gly592Ter)
c.7624G>T (p.Gly2542Ter)
c.7435G>T (p.Gly2479Ter)
c.5839G>T (p.Gly1947Ter)
n.7975G>T
6g.51867897C>GCA364418231PKHD1c.7699G>C (p.Gly2567Arg)
c.7057G>C (p.Gly2353Arg)
c.6988G>C (p.Gly2330Arg)
c.1774G>C (p.Gly592Arg)
c.7624G>C (p.Gly2542Arg)
c.7435G>C (p.Gly2479Arg)
c.5839G>C (p.Gly1947Arg)
n.7975G>C
6g.51867897C>TCA364418233PKHD1c.7699G>A (p.Gly2567Arg)
c.7057G>A (p.Gly2353Arg)
c.6988G>A (p.Gly2330Arg)
c.1774G>A (p.Gly592Arg)
c.7624G>A (p.Gly2542Arg)
c.7435G>A (p.Gly2479Arg)
c.5839G>A (p.Gly1947Arg)
n.7975G>A
6g.51867898T>ACA450614024PKHD1c.7698A>T (p.Gly2566=)
c.7056A>T (p.Gly2352=)
c.6987A>T (p.Gly2329=)
c.1773A>T (p.Gly591=)
c.7623A>T (p.Gly2541=)
c.7434A>T (p.Gly2478=)
c.5838A>T (p.Gly1946=)
n.7974A>T
6g.51867898T>CCA450614027PKHD1c.7698A>G (p.Gly2566=)
c.7056A>G (p.Gly2352=)
c.6987A>G (p.Gly2329=)
c.1773A>G (p.Gly591=)
c.7623A>G (p.Gly2541=)
c.7434A>G (p.Gly2478=)
c.5838A>G (p.Gly1946=)
n.7974A>G
6g.51867898T>GCA450614028PKHD1c.7698A>C (p.Gly2566=)
c.7056A>C (p.Gly2352=)
c.6987A>C (p.Gly2329=)
c.1773A>C (p.Gly591=)
c.7623A>C (p.Gly2541=)
c.7434A>C (p.Gly2478=)
c.5838A>C (p.Gly1946=)
n.7974A>C
6g.51867899C>ACA364418239PKHD1c.7697G>T (p.Gly2566Val)
c.7055G>T (p.Gly2352Val)
c.6986G>T (p.Gly2329Val)
c.1772G>T (p.Gly591Val)
c.7622G>T (p.Gly2541Val)
c.7433G>T (p.Gly2478Val)
c.5837G>T (p.Gly1946Val)
n.7973G>T
6g.51867899C>GCA364418237PKHD1c.7697G>C (p.Gly2566Ala)
c.7055G>C (p.Gly2352Ala)
c.6986G>C (p.Gly2329Ala)
c.1772G>C (p.Gly591Ala)
c.7622G>C (p.Gly2541Ala)
c.7433G>C (p.Gly2478Ala)
c.5837G>C (p.Gly1946Ala)
n.7973G>C
6g.51867899C>TCA364418235PKHD1c.7697G>A (p.Gly2566Glu)
c.7055G>A (p.Gly2352Glu)
c.6986G>A (p.Gly2329Glu)
c.1772G>A (p.Gly591Glu)
c.7622G>A (p.Gly2541Glu)
c.7433G>A (p.Gly2478Glu)
c.5837G>A (p.Gly1946Glu)
n.7973G>A
6g.51867900C>ACA16041041PKHD1c.7696G>T (p.Gly2566Ter)
c.7054G>T (p.Gly2352Ter)
c.6985G>T (p.Gly2329Ter)
c.1771G>T (p.Gly591Ter)
c.7621G>T (p.Gly2541Ter)
c.7432G>T (p.Gly2478Ter)
c.5836G>T (p.Gly1946Ter)
n.7972G>T
 ClinVar dbSNP COSMIC COSMIC
6g.51867900C=CA1628582944PKHD1c.7696G= (p.Gly2566=)
c.7054G= (p.Gly2352=)
c.6985G= (p.Gly2329=)
c.1771G= (p.Gly591=)
c.7621G= (p.Gly2541=)
c.7432G= (p.Gly2478=)
c.5836G= (p.Gly1946=)
n.7972G=
6g.51867900C>GCA364418244PKHD1c.7696G>C (p.Gly2566Arg)
c.7054G>C (p.Gly2352Arg)
c.6985G>C (p.Gly2329Arg)
c.1771G>C (p.Gly591Arg)
c.7621G>C (p.Gly2541Arg)
c.7432G>C (p.Gly2478Arg)
c.5836G>C (p.Gly1946Arg)
n.7972G>C
6g.51867900C>TCA364418242PKHD1c.7696G>A (p.Gly2566Arg)
c.7054G>A (p.Gly2352Arg)
c.6985G>A (p.Gly2329Arg)
c.1771G>A (p.Gly591Arg)
c.7621G>A (p.Gly2541Arg)
c.7432G>A (p.Gly2478Arg)
c.5836G>A (p.Gly1946Arg)
n.7972G>A
 dbSNP COSMIC COSMIC
6g.51867901A>CCA364418246PKHD1c.7695T>G (p.Cys2565Trp)
c.7053T>G (p.Cys2351Trp)
c.6984T>G (p.Cys2328Trp)
c.1770T>G (p.Cys590Trp)
c.7620T>G (p.Cys2540Trp)
c.7431T>G (p.Cys2477Trp)
c.5835T>G (p.Cys1945Trp)
n.7971T>G
6g.51867901A>GCA450614029PKHD1c.7695T>C (p.Cys2565=)
c.7053T>C (p.Cys2351=)
c.6984T>C (p.Cys2328=)
c.1770T>C (p.Cys590=)
c.7620T>C (p.Cys2540=)
c.7431T>C (p.Cys2477=)
c.5835T>C (p.Cys1945=)
n.7971T>C
 ClinVar dbSNP gnomAD v4
6g.51867901A>TCA364418248PKHD1c.7695T>A (p.Cys2565Ter)
c.7053T>A (p.Cys2351Ter)
c.6984T>A (p.Cys2328Ter)
c.1770T>A (p.Cys590Ter)
c.7620T>A (p.Cys2540Ter)
c.7431T>A (p.Cys2477Ter)
c.5835T>A (p.Cys1945Ter)
n.7971T>A
6g.51867902C>ACA364418249PKHD1c.7694G>T (p.Cys2565Phe)
c.7052G>T (p.Cys2351Phe)
c.6983G>T (p.Cys2328Phe)
c.1769G>T (p.Cys590Phe)
c.7619G>T (p.Cys2540Phe)
c.7430G>T (p.Cys2477Phe)
c.5834G>T (p.Cys1945Phe)
n.7970G>T
6g.51867902C=CA1628582948PKHD1c.7694G= (p.Cys2565=)
c.7052G= (p.Cys2351=)
c.6983G= (p.Cys2328=)
c.1769G= (p.Cys590=)
c.7619G= (p.Cys2540=)
c.7430G= (p.Cys2477=)
c.5834G= (p.Cys1945=)
n.7970G=
6g.51867902C>GCA364418250PKHD1c.7694G>C (p.Cys2565Ser)
c.7052G>C (p.Cys2351Ser)
c.6983G>C (p.Cys2328Ser)
c.1769G>C (p.Cys590Ser)
c.7619G>C (p.Cys2540Ser)
c.7430G>C (p.Cys2477Ser)
c.5834G>C (p.Cys1945Ser)
n.7970G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.51867902C>TCA364418251PKHD1c.7694G>A (p.Cys2565Tyr)
c.7052G>A (p.Cys2351Tyr)
c.6983G>A (p.Cys2328Tyr)
c.1769G>A (p.Cys590Tyr)
c.7619G>A (p.Cys2540Tyr)
c.7430G>A (p.Cys2477Tyr)
c.5834G>A (p.Cys1945Tyr)
n.7970G>A
 gnomAD v4
6g.51867903A>CCA364418252PKHD1c.7693T>G (p.Cys2565Gly)
c.7051T>G (p.Cys2351Gly)
c.6982T>G (p.Cys2328Gly)
c.1768T>G (p.Cys590Gly)
c.7618T>G (p.Cys2540Gly)
c.7429T>G (p.Cys2477Gly)
c.5833T>G (p.Cys1945Gly)
n.7969T>G
6g.51867903A>GCA364418253PKHD1c.7693T>C (p.Cys2565Arg)
c.7051T>C (p.Cys2351Arg)
c.6982T>C (p.Cys2328Arg)
c.1768T>C (p.Cys590Arg)
c.7618T>C (p.Cys2540Arg)
c.7429T>C (p.Cys2477Arg)
c.5833T>C (p.Cys1945Arg)
n.7969T>C
 gnomAD v4
6g.51867903A>TCA364418255PKHD1c.7693T>A (p.Cys2565Ser)
c.7051T>A (p.Cys2351Ser)
c.6982T>A (p.Cys2328Ser)
c.1768T>A (p.Cys590Ser)
c.7618T>A (p.Cys2540Ser)
c.7429T>A (p.Cys2477Ser)
c.5833T>A (p.Cys1945Ser)
n.7969T>A
6g.51867904G>ACA450614037PKHD1c.7692C>T (p.Ala2564=)
c.7050C>T (p.Ala2350=)
c.6981C>T (p.Ala2327=)
c.1767C>T (p.Ala589=)
c.7617C>T (p.Ala2539=)
c.7428C>T (p.Ala2476=)
c.5832C>T (p.Ala1944=)
n.7968C>T
6g.51867904G>CCA450614040PKHD1c.7692C>G (p.Ala2564=)
c.7050C>G (p.Ala2350=)
c.6981C>G (p.Ala2327=)
c.1767C>G (p.Ala589=)
c.7617C>G (p.Ala2539=)
c.7428C>G (p.Ala2476=)
c.5832C>G (p.Ala1944=)
n.7968C>G
6g.51867904G>TCA450614042PKHD1c.7692C>A (p.Ala2564=)
c.7050C>A (p.Ala2350=)
c.6981C>A (p.Ala2327=)
c.1767C>A (p.Ala589=)
c.7617C>A (p.Ala2539=)
c.7428C>A (p.Ala2476=)
c.5832C>A (p.Ala1944=)
n.7968C>A
6g.51867905G>ACA3851874PKHD1c.7691C>T (p.Ala2564Val)
c.7049C>T (p.Ala2350Val)
c.6980C>T (p.Ala2327Val)
c.1766C>T (p.Ala589Val)
c.7616C>T (p.Ala2539Val)
c.7427C>T (p.Ala2476Val)
c.5831C>T (p.Ala1944Val)
n.7967C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51867905G>CCA364418258PKHD1c.7691C>G (p.Ala2564Gly)
c.7049C>G (p.Ala2350Gly)
c.6980C>G (p.Ala2327Gly)
c.1766C>G (p.Ala589Gly)
c.7616C>G (p.Ala2539Gly)
c.7427C>G (p.Ala2476Gly)
c.5831C>G (p.Ala1944Gly)
n.7967C>G
6g.51867905G=CA1628582951PKHD1c.7691C= (p.Ala2564=)
c.7049C= (p.Ala2350=)
c.6980C= (p.Ala2327=)
c.1766C= (p.Ala589=)
c.7616C= (p.Ala2539=)
c.7427C= (p.Ala2476=)
c.5831C= (p.Ala1944=)
n.7967C=
6g.51867905G>TCA364418259PKHD1c.7691C>A (p.Ala2564Asp)
c.7049C>A (p.Ala2350Asp)
c.6980C>A (p.Ala2327Asp)
c.1766C>A (p.Ala589Asp)
c.7616C>A (p.Ala2539Asp)
c.7427C>A (p.Ala2476Asp)
c.5831C>A (p.Ala1944Asp)
n.7967C>A
 dbSNP gnomAD v2 gnomAD v4
6g.51867906C>ACA3851875PKHD1c.7690G>T (p.Ala2564Ser)
c.7048G>T (p.Ala2350Ser)
c.6979G>T (p.Ala2327Ser)
c.1765G>T (p.Ala589Ser)
c.7615G>T (p.Ala2539Ser)
c.7426G>T (p.Ala2476Ser)
c.5830G>T (p.Ala1944Ser)
n.7966G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51867906C=CA1628582953PKHD1c.7690G= (p.Ala2564=)
c.7048G= (p.Ala2350=)
c.6979G= (p.Ala2327=)
c.1765G= (p.Ala589=)
c.7615G= (p.Ala2539=)
c.7426G= (p.Ala2476=)
c.5830G= (p.Ala1944=)
n.7966G=
6g.51867906C>GCA364418262PKHD1c.7690G>C (p.Ala2564Pro)
c.7048G>C (p.Ala2350Pro)
c.6979G>C (p.Ala2327Pro)
c.1765G>C (p.Ala589Pro)
c.7615G>C (p.Ala2539Pro)
c.7426G>C (p.Ala2476Pro)
c.5830G>C (p.Ala1944Pro)
n.7966G>C
6g.51867906C>TCA364418264PKHD1c.7690G>A (p.Ala2564Thr)
c.7048G>A (p.Ala2350Thr)
c.6979G>A (p.Ala2327Thr)
c.1765G>A (p.Ala589Thr)
c.7615G>A (p.Ala2539Thr)
c.7426G>A (p.Ala2476Thr)
c.5830G>A (p.Ala1944Thr)
n.7966G>A
6g.51867907A=CA1628582956PKHD1c.7689T= (p.Ser2563=)
c.7047T= (p.Ser2349=)
c.6978T= (p.Ser2326=)
c.1764T= (p.Ser588=)
c.7614T= (p.Ser2538=)
c.7425T= (p.Ser2475=)
c.5829T= (p.Ser1943=)
n.7965T=
6g.51867907A>CCA364418268PKHD1c.7689T>G (p.Ser2563Arg)
c.7047T>G (p.Ser2349Arg)
c.6978T>G (p.Ser2326Arg)
c.1764T>G (p.Ser588Arg)
c.7614T>G (p.Ser2538Arg)
c.7425T>G (p.Ser2475Arg)
c.5829T>G (p.Ser1943Arg)
n.7965T>G
 ClinVar dbSNP
6g.51867907A>GCA450614044PKHD1c.7689T>C (p.Ser2563=)
c.7047T>C (p.Ser2349=)
c.6978T>C (p.Ser2326=)
c.1764T>C (p.Ser588=)
c.7614T>C (p.Ser2538=)
c.7425T>C (p.Ser2475=)
c.5829T>C (p.Ser1943=)
n.7965T>C
 ClinVar dbSNP gnomAD v2
6g.51867907A>TCA364418266PKHD1c.7689T>A (p.Ser2563Arg)
c.7047T>A (p.Ser2349Arg)
c.6978T>A (p.Ser2326Arg)
c.1764T>A (p.Ser588Arg)
c.7614T>A (p.Ser2538Arg)
c.7425T>A (p.Ser2475Arg)
c.5829T>A (p.Ser1943Arg)
n.7965T>A
6g.51867908C>ACA364418273PKHD1c.7688G>T (p.Ser2563Ile)
c.7046G>T (p.Ser2349Ile)
c.6977G>T (p.Ser2326Ile)
c.1763G>T (p.Ser588Ile)
c.7613G>T (p.Ser2538Ile)
c.7424G>T (p.Ser2475Ile)
c.5828G>T (p.Ser1943Ile)
n.7964G>T
6g.51867908C=CA1628582959PKHD1c.7688G= (p.Ser2563=)
c.7046G= (p.Ser2349=)
c.6977G= (p.Ser2326=)
c.1763G= (p.Ser588=)
c.7613G= (p.Ser2538=)
c.7424G= (p.Ser2475=)
c.5828G= (p.Ser1943=)
n.7964G=
6g.51867908C>GCA364418275PKHD1c.7688G>C (p.Ser2563Thr)
c.7046G>C (p.Ser2349Thr)
c.6977G>C (p.Ser2326Thr)
c.1763G>C (p.Ser588Thr)
c.7613G>C (p.Ser2538Thr)
c.7424G>C (p.Ser2475Thr)
c.5828G>C (p.Ser1943Thr)
n.7964G>C
6g.51867908C>TCA364418278PKHD1c.7688G>A (p.Ser2563Asn)
c.7046G>A (p.Ser2349Asn)
c.6977G>A (p.Ser2326Asn)
c.1763G>A (p.Ser588Asn)
c.7613G>A (p.Ser2538Asn)
c.7424G>A (p.Ser2475Asn)
c.5828G>A (p.Ser1943Asn)
n.7964G>A
 dbSNP
6g.51867909T>ACA364418282PKHD1c.7687A>T (p.Ser2563Cys)
c.7045A>T (p.Ser2349Cys)
c.6976A>T (p.Ser2326Cys)
c.1762A>T (p.Ser588Cys)
c.7612A>T (p.Ser2538Cys)
c.7423A>T (p.Ser2475Cys)
c.5827A>T (p.Ser1943Cys)
n.7963A>T
6g.51867909T>CCA364418284PKHD1c.7687A>G (p.Ser2563Gly)
c.7045A>G (p.Ser2349Gly)
c.6976A>G (p.Ser2326Gly)
c.1762A>G (p.Ser588Gly)
c.7612A>G (p.Ser2538Gly)
c.7423A>G (p.Ser2475Gly)
c.5827A>G (p.Ser1943Gly)
n.7963A>G
 dbSNP
6g.51867909T>GCA364418286PKHD1c.7687A>C (p.Ser2563Arg)
c.7045A>C (p.Ser2349Arg)
c.6976A>C (p.Ser2326Arg)
c.1762A>C (p.Ser588Arg)
c.7612A>C (p.Ser2538Arg)
c.7423A>C (p.Ser2475Arg)
c.5827A>C (p.Ser1943Arg)
n.7963A>C
6g.51867909T=CA1628582961PKHD1c.7687A= (p.Ser2563=)
c.7045A= (p.Ser2349=)
c.6976A= (p.Ser2326=)
c.1762A= (p.Ser588=)
c.7612A= (p.Ser2538=)
c.7423A= (p.Ser2475=)
c.5827A= (p.Ser1943=)
n.7963A=
6g.51867910G>ACA450614049PKHD1c.7686C>T (p.Gly2562=)
c.7044C>T (p.Gly2348=)
c.6975C>T (p.Gly2325=)
c.1761C>T (p.Gly587=)
c.7611C>T (p.Gly2537=)
c.7422C>T (p.Gly2474=)
c.5826C>T (p.Gly1942=)
n.7962C>T
 gnomAD v4
6g.51867910G>CCA450614050PKHD1c.7686C>G (p.Gly2562=)
c.7044C>G (p.Gly2348=)
c.6975C>G (p.Gly2325=)
c.1761C>G (p.Gly587=)
c.7611C>G (p.Gly2537=)
c.7422C>G (p.Gly2474=)
c.5826C>G (p.Gly1942=)
n.7962C>G
6g.51867910G>TCA450614052PKHD1c.7686C>A (p.Gly2562=)
c.7044C>A (p.Gly2348=)
c.6975C>A (p.Gly2325=)
c.1761C>A (p.Gly587=)
c.7611C>A (p.Gly2537=)
c.7422C>A (p.Gly2474=)
c.5826C>A (p.Gly1942=)
n.7962C>A
6g.51867911C>ACA364418290PKHD1c.7685G>T (p.Gly2562Val)
c.7043G>T (p.Gly2348Val)
c.6974G>T (p.Gly2325Val)
c.1760G>T (p.Gly587Val)
c.7610G>T (p.Gly2537Val)
c.7421G>T (p.Gly2474Val)
c.5825G>T (p.Gly1942Val)
n.7961G>T
6g.51867911C=CA1628582964PKHD1c.7685G= (p.Gly2562=)
c.7043G= (p.Gly2348=)
c.6974G= (p.Gly2325=)
c.1760G= (p.Gly587=)
c.7610G= (p.Gly2537=)
c.7421G= (p.Gly2474=)
c.5825G= (p.Gly1942=)
n.7961G=
6g.51867911C>GCA138891274PKHD1c.7685G>C (p.Gly2562Ala)
c.7043G>C (p.Gly2348Ala)
c.6974G>C (p.Gly2325Ala)
c.1760G>C (p.Gly587Ala)
c.7610G>C (p.Gly2537Ala)
c.7421G>C (p.Gly2474Ala)
c.5825G>C (p.Gly1942Ala)
n.7961G>C
 dbSNP gnomAD v3 gnomAD v4
6g.51867911C>TCA364418293PKHD1c.7685G>A (p.Gly2562Asp)
c.7043G>A (p.Gly2348Asp)
c.6974G>A (p.Gly2325Asp)
c.1760G>A (p.Gly587Asp)
c.7610G>A (p.Gly2537Asp)
c.7421G>A (p.Gly2474Asp)
c.5825G>A (p.Gly1942Asp)
n.7961G>A
6g.51867912C>ACA364418299PKHD1c.7684G>T (p.Gly2562Cys)
c.7042G>T (p.Gly2348Cys)
c.6973G>T (p.Gly2325Cys)
c.1759G>T (p.Gly587Cys)
c.7609G>T (p.Gly2537Cys)
c.7420G>T (p.Gly2474Cys)
c.5824G>T (p.Gly1942Cys)
n.7960G>T
6g.51867912C=CA1628582967PKHD1c.7684G= (p.Gly2562=)
c.7042G= (p.Gly2348=)
c.6973G= (p.Gly2325=)
c.1759G= (p.Gly587=)
c.7609G= (p.Gly2537=)
c.7420G= (p.Gly2474=)
c.5824G= (p.Gly1942=)
n.7960G=
6g.51867912C>GCA364418301PKHD1c.7684G>C (p.Gly2562Arg)
c.7042G>C (p.Gly2348Arg)
c.6973G>C (p.Gly2325Arg)
c.1759G>C (p.Gly587Arg)
c.7609G>C (p.Gly2537Arg)
c.7420G>C (p.Gly2474Arg)
c.5824G>C (p.Gly1942Arg)
n.7960G>C
6g.51867912C>TCA364418304PKHD1c.7684G>A (p.Gly2562Ser)
c.7042G>A (p.Gly2348Ser)
c.6973G>A (p.Gly2325Ser)
c.1759G>A (p.Gly587Ser)
c.7609G>A (p.Gly2537Ser)
c.7420G>A (p.Gly2474Ser)
c.5824G>A (p.Gly1942Ser)
n.7960G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.51867913A>CCA364418310PKHD1c.7683T>G (p.His2561Gln)
c.7041T>G (p.His2347Gln)
c.6972T>G (p.His2324Gln)
c.1758T>G (p.His586Gln)
c.7608T>G (p.His2536Gln)
c.7419T>G (p.His2473Gln)
c.5823T>G (p.His1941Gln)
n.7959T>G
6g.51867913A>GCA450614055PKHD1c.7683T>C (p.His2561=)
c.7041T>C (p.His2347=)
c.6972T>C (p.His2324=)
c.1758T>C (p.His586=)
c.7608T>C (p.His2536=)
c.7419T>C (p.His2473=)
c.5823T>C (p.His1941=)
n.7959T>C
 gnomAD v4
6g.51867913A>TCA364418308PKHD1c.7683T>A (p.His2561Gln)
c.7041T>A (p.His2347Gln)
c.6972T>A (p.His2324Gln)
c.1758T>A (p.His586Gln)
c.7608T>A (p.His2536Gln)
c.7419T>A (p.His2473Gln)
c.5823T>A (p.His1941Gln)
n.7959T>A
6g.51867914T>ACA364418314PKHD1c.7682A>T (p.His2561Leu)
c.7040A>T (p.His2347Leu)
c.6971A>T (p.His2324Leu)
c.1757A>T (p.His586Leu)
c.7607A>T (p.His2536Leu)
c.7418A>T (p.His2473Leu)
c.5822A>T (p.His1941Leu)
n.7958A>T
6g.51867914T>CCA364418316PKHD1c.7682A>G (p.His2561Arg)
c.7040A>G (p.His2347Arg)
c.6971A>G (p.His2324Arg)
c.1757A>G (p.His586Arg)
c.7607A>G (p.His2536Arg)
c.7418A>G (p.His2473Arg)
c.5822A>G (p.His1941Arg)
n.7958A>G
 gnomAD v4
6g.51867914T>GCA364418318PKHD1c.7682A>C (p.His2561Pro)
c.7040A>C (p.His2347Pro)
c.6971A>C (p.His2324Pro)
c.1757A>C (p.His586Pro)
c.7607A>C (p.His2536Pro)
c.7418A>C (p.His2473Pro)
c.5822A>C (p.His1941Pro)
n.7958A>C
6g.51867915G>ACA364418322PKHD1c.7681C>T (p.His2561Tyr)
c.7039C>T (p.His2347Tyr)
c.6970C>T (p.His2324Tyr)
c.1756C>T (p.His586Tyr)
c.7606C>T (p.His2536Tyr)
c.7417C>T (p.His2473Tyr)
c.5821C>T (p.His1941Tyr)
n.7957C>T
6g.51867915G>CCA364418325PKHD1c.7681C>G (p.His2561Asp)
c.7039C>G (p.His2347Asp)
c.6970C>G (p.His2324Asp)
c.1756C>G (p.His586Asp)
c.7606C>G (p.His2536Asp)
c.7417C>G (p.His2473Asp)
c.5821C>G (p.His1941Asp)
n.7957C>G
6g.51867915G>TCA364418326PKHD1c.7681C>A (p.His2561Asn)
c.7039C>A (p.His2347Asn)
c.6970C>A (p.His2324Asn)
c.1756C>A (p.His586Asn)
c.7606C>A (p.His2536Asn)
c.7417C>A (p.His2473Asn)
c.5821C>A (p.His1941Asn)
n.7957C>A
6g.51867915_51867916delCA2580075466PKHD1c.7680_7681del (p.His2561TrpfsTer22)
c.7038_7039del (p.His2347TrpfsTer22)
c.6969_6970del (p.His2324TrpfsTer22)
c.1755_1756del (p.His586TrpfsTer22)
c.7605_7606del (p.His2536TrpfsTer22)
c.7416_7417del (p.His2473TrpfsTer22)
c.5820_5821del (p.His1941TrpfsTer22)
n.7956_7957del
 ClinVar
6g.51867916G>ACA138891278PKHD1c.7680C>T (p.Val2560=)
c.7038C>T (p.Val2346=)
c.6969C>T (p.Val2323=)
c.1755C>T (p.Val585=)
c.7605C>T (p.Val2535=)
c.7416C>T (p.Val2472=)
c.5820C>T (p.Val1940=)
n.7956C>T
 dbSNP gnomAD v2 gnomAD v4
6g.51867916G>CCA450614062PKHD1c.7680C>G (p.Val2560=)
c.7038C>G (p.Val2346=)
c.6969C>G (p.Val2323=)
c.1755C>G (p.Val585=)
c.7605C>G (p.Val2535=)
c.7416C>G (p.Val2472=)
c.5820C>G (p.Val1940=)
n.7956C>G
6g.51867916G=CA1628582969PKHD1c.7680C= (p.Val2560=)
c.7038C= (p.Val2346=)
c.6969C= (p.Val2323=)
c.1755C= (p.Val585=)
c.7605C= (p.Val2535=)
c.7416C= (p.Val2472=)
c.5820C= (p.Val1940=)
n.7956C=
6g.51867916G>TCA450614063PKHD1c.7680C>A (p.Val2560=)
c.7038C>A (p.Val2346=)
c.6969C>A (p.Val2323=)
c.1755C>A (p.Val585=)
c.7605C>A (p.Val2535=)
c.7416C>A (p.Val2472=)
c.5820C>A (p.Val1940=)
n.7956C>A
6g.51867917A>CCA364418328PKHD1c.7679T>G (p.Val2560Gly)
c.7037T>G (p.Val2346Gly)
c.6968T>G (p.Val2323Gly)
c.1754T>G (p.Val585Gly)
c.7604T>G (p.Val2535Gly)
c.7415T>G (p.Val2472Gly)
c.5819T>G (p.Val1940Gly)
n.7955T>G
6g.51867917A>GCA364418331PKHD1c.7679T>C (p.Val2560Ala)
c.7037T>C (p.Val2346Ala)
c.6968T>C (p.Val2323Ala)
c.1754T>C (p.Val585Ala)
c.7604T>C (p.Val2535Ala)
c.7415T>C (p.Val2472Ala)
c.5819T>C (p.Val1940Ala)
n.7955T>C
6g.51867917A>TCA364418334PKHD1c.7679T>A (p.Val2560Asp)
c.7037T>A (p.Val2346Asp)
c.6968T>A (p.Val2323Asp)
c.1754T>A (p.Val585Asp)
c.7604T>A (p.Val2535Asp)
c.7415T>A (p.Val2472Asp)
c.5819T>A (p.Val1940Asp)
n.7955T>A
6g.51867917dupCA2695206443PKHD1c.7679dup (p.His2561ProfsTer23)
c.7037dup (p.His2347ProfsTer23)
c.6968dup (p.His2324ProfsTer23)
c.1754dup (p.His586ProfsTer23)
c.7604dup (p.His2536ProfsTer23)
c.7415dup (p.His2473ProfsTer23)
c.5819dup (p.His1941ProfsTer23)
n.7955dup
6g.51867918C>ACA364418337PKHD1c.7678G>T (p.Val2560Phe)
c.7036G>T (p.Val2346Phe)
c.6967G>T (p.Val2323Phe)
c.1753G>T (p.Val585Phe)
c.7603G>T (p.Val2535Phe)
c.7414G>T (p.Val2472Phe)
c.5818G>T (p.Val1940Phe)
n.7954G>T
6g.51867918C>GCA364418339PKHD1c.7678G>C (p.Val2560Leu)
c.7036G>C (p.Val2346Leu)
c.6967G>C (p.Val2323Leu)
c.1753G>C (p.Val585Leu)
c.7603G>C (p.Val2535Leu)
c.7414G>C (p.Val2472Leu)
c.5818G>C (p.Val1940Leu)
n.7954G>C
6g.51867918C>TCA364418342PKHD1c.7678G>A (p.Val2560Ile)
c.7036G>A (p.Val2346Ile)
c.6967G>A (p.Val2323Ile)
c.1753G>A (p.Val585Ile)
c.7603G>A (p.Val2535Ile)
c.7414G>A (p.Val2472Ile)
c.5818G>A (p.Val1940Ile)
n.7954G>A
6g.51867919A>CCA450614067PKHD1c.7677T>G (p.Val2559=)
c.7035T>G (p.Val2345=)
c.6966T>G (p.Val2322=)
c.1752T>G (p.Val584=)
c.7602T>G (p.Val2534=)
c.7413T>G (p.Val2471=)
c.5817T>G (p.Val1939=)
n.7953T>G
6g.51867919A>GCA450614068PKHD1c.7677T>C (p.Val2559=)
c.7035T>C (p.Val2345=)
c.6966T>C (p.Val2322=)
c.1752T>C (p.Val584=)
c.7602T>C (p.Val2534=)
c.7413T>C (p.Val2471=)
c.5817T>C (p.Val1939=)
n.7953T>C
6g.51867919A>TCA450614069PKHD1c.7677T>A (p.Val2559=)
c.7035T>A (p.Val2345=)
c.6966T>A (p.Val2322=)
c.1752T>A (p.Val584=)
c.7602T>A (p.Val2534=)
c.7413T>A (p.Val2471=)
c.5817T>A (p.Val1939=)
n.7953T>A
 COSMIC COSMIC
6g.51867920A>CCA364418348PKHD1c.7676T>G (p.Val2559Gly)
c.7034T>G (p.Val2345Gly)
c.6965T>G (p.Val2322Gly)
c.1751T>G (p.Val584Gly)
c.7601T>G (p.Val2534Gly)
c.7412T>G (p.Val2471Gly)
c.5816T>G (p.Val1939Gly)
n.7952T>G
6g.51867920A>GCA364418351PKHD1c.7676T>C (p.Val2559Ala)
c.7034T>C (p.Val2345Ala)
c.6965T>C (p.Val2322Ala)
c.1751T>C (p.Val584Ala)
c.7601T>C (p.Val2534Ala)
c.7412T>C (p.Val2471Ala)
c.5816T>C (p.Val1939Ala)
n.7952T>C
6g.51867920A>TCA364418346PKHD1c.7676T>A (p.Val2559Asp)
c.7034T>A (p.Val2345Asp)
c.6965T>A (p.Val2322Asp)
c.1751T>A (p.Val584Asp)
c.7601T>A (p.Val2534Asp)
c.7412T>A (p.Val2471Asp)
c.5816T>A (p.Val1939Asp)
n.7952T>A
6g.51867923_51867927dupCA2679082235PKHD1c.7672_7676dup (p.Val2560GlyfsTer21)
c.7030_7034dup (p.Val2346GlyfsTer21)
c.6961_6965dup (p.Val2323GlyfsTer21)
c.1747_1751dup (p.Val585GlyfsTer21)
c.7597_7601dup (p.Val2535GlyfsTer21)
c.7408_7412dup (p.Val2472GlyfsTer21)
c.5812_5816dup (p.Val1940GlyfsTer21)
n.7948_7952dup
 gnomAD v4
6g.51867921C>ACA364418355PKHD1c.7675G>T (p.Val2559Phe)
c.7033G>T (p.Val2345Phe)
c.6964G>T (p.Val2322Phe)
c.1750G>T (p.Val584Phe)
c.7600G>T (p.Val2534Phe)
c.7411G>T (p.Val2471Phe)
c.5815G>T (p.Val1939Phe)
n.7951G>T
 dbSNP gnomAD v3 gnomAD v4
6g.51867921C=CA1628582976PKHD1c.7675G= (p.Val2559=)
c.7033G= (p.Val2345=)
c.6964G= (p.Val2322=)
c.1750G= (p.Val584=)
c.7600G= (p.Val2534=)
c.7411G= (p.Val2471=)
c.5815G= (p.Val1939=)
n.7951G=
6g.51867921C>GCA245849PKHD1c.7675G>C (p.Val2559Leu)
c.7033G>C (p.Val2345Leu)
c.6964G>C (p.Val2322Leu)
c.1750G>C (p.Val584Leu)
c.7600G>C (p.Val2534Leu)
c.7411G>C (p.Val2471Leu)
c.5815G>C (p.Val1939Leu)
n.7951G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51867921C>TCA138891293PKHD1c.7675G>A (p.Val2559Ile)
c.7033G>A (p.Val2345Ile)
c.6964G>A (p.Val2322Ile)
c.1750G>A (p.Val584Ile)
c.7600G>A (p.Val2534Ile)
c.7411G>A (p.Val2471Ile)
c.5815G>A (p.Val1939Ile)
n.7951G>A
 dbSNP gnomAD v3 gnomAD v4
6g.51867922C>ACA450614072PKHD1c.7674G>T (p.Arg2558=)
c.7032G>T (p.Arg2344=)
c.6963G>T (p.Arg2321=)
c.1749G>T (p.Arg583=)
c.7599G>T (p.Arg2533=)
c.7410G>T (p.Arg2470=)
c.5814G>T (p.Arg1938=)
n.7950G>T
 COSMIC COSMIC
6g.51867922C>GCA450614073PKHD1c.7674G>C (p.Arg2558=)
c.7032G>C (p.Arg2344=)
c.6963G>C (p.Arg2321=)
c.1749G>C (p.Arg583=)
c.7599G>C (p.Arg2533=)
c.7410G>C (p.Arg2470=)
c.5814G>C (p.Arg1938=)
n.7950G>C
6g.51867922C>TCA450614074PKHD1c.7674G>A (p.Arg2558=)
c.7032G>A (p.Arg2344=)
c.6963G>A (p.Arg2321=)
c.1749G>A (p.Arg583=)
c.7599G>A (p.Arg2533=)
c.7410G>A (p.Arg2470=)
c.5814G>A (p.Arg1938=)
n.7950G>A
6g.51867923C>ACA364418368PKHD1c.7673G>T (p.Arg2558Leu)
c.7031G>T (p.Arg2344Leu)
c.6962G>T (p.Arg2321Leu)
c.1748G>T (p.Arg583Leu)
c.7598G>T (p.Arg2533Leu)
c.7409G>T (p.Arg2470Leu)
c.5813G>T (p.Arg1938Leu)
n.7949G>T
6g.51867923C=CA1628582978PKHD1c.7673G= (p.Arg2558=)
c.7031G= (p.Arg2344=)
c.6962G= (p.Arg2321=)
c.1748G= (p.Arg583=)
c.7598G= (p.Arg2533=)
c.7409G= (p.Arg2470=)
c.5813G= (p.Arg1938=)
n.7949G=
6g.51867923C>GCA3851876PKHD1c.7673G>C (p.Arg2558Pro)
c.7031G>C (p.Arg2344Pro)
c.6962G>C (p.Arg2321Pro)
c.1748G>C (p.Arg583Pro)
c.7598G>C (p.Arg2533Pro)
c.7409G>C (p.Arg2470Pro)
c.5813G>C (p.Arg1938Pro)
n.7949G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51867923C>TCA3851877PKHD1c.7673G>A (p.Arg2558Gln)
c.7031G>A (p.Arg2344Gln)
c.6962G>A (p.Arg2321Gln)
c.1748G>A (p.Arg583Gln)
c.7598G>A (p.Arg2533Gln)
c.7409G>A (p.Arg2470Gln)
c.5813G>A (p.Arg1938Gln)
n.7949G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51867924G>ACA364418377PKHD1c.7672C>T (p.Arg2558Trp)
c.7030C>T (p.Arg2344Trp)
c.6961C>T (p.Arg2321Trp)
c.1747C>T (p.Arg583Trp)
c.7597C>T (p.Arg2533Trp)
c.7408C>T (p.Arg2470Trp)
c.5812C>T (p.Arg1938Trp)
n.7948C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51867924G>CCA364418380PKHD1c.7672C>G (p.Arg2558Gly)
c.7030C>G (p.Arg2344Gly)
c.6961C>G (p.Arg2321Gly)
c.1747C>G (p.Arg583Gly)
c.7597C>G (p.Arg2533Gly)
c.7408C>G (p.Arg2470Gly)
c.5812C>G (p.Arg1938Gly)
n.7948C>G
6g.51867924G=CA1628582980PKHD1c.7672C= (p.Arg2558=)
c.7030C= (p.Arg2344=)
c.6961C= (p.Arg2321=)
c.1747C= (p.Arg583=)
c.7597C= (p.Arg2533=)
c.7408C= (p.Arg2470=)
c.5812C= (p.Arg1938=)
n.7948C=
6g.51867924G>TCA450614078PKHD1c.7672C>A (p.Arg2558=)
c.7030C>A (p.Arg2344=)
c.6961C>A (p.Arg2321=)
c.1747C>A (p.Arg583=)
c.7597C>A (p.Arg2533=)
c.7408C>A (p.Arg2470=)
c.5812C>A (p.Arg1938=)
n.7948C>A
 gnomAD v4
6g.51867925A>CCA450614079PKHD1c.7671T>G (p.Gly2557=)
c.7029T>G (p.Gly2343=)
c.6960T>G (p.Gly2320=)
c.1746T>G (p.Gly582=)
c.7596T>G (p.Gly2532=)
c.7407T>G (p.Gly2469=)
c.5811T>G (p.Gly1937=)
n.7947T>G
6g.51867925A>GCA450614081PKHD1c.7671T>C (p.Gly2557=)
c.7029T>C (p.Gly2343=)
c.6960T>C (p.Gly2320=)
c.1746T>C (p.Gly582=)
c.7596T>C (p.Gly2532=)
c.7407T>C (p.Gly2469=)
c.5811T>C (p.Gly1937=)
n.7947T>C
6g.51867925A>TCA450614080PKHD1c.7671T>A (p.Gly2557=)
c.7029T>A (p.Gly2343=)
c.6960T>A (p.Gly2320=)
c.1746T>A (p.Gly582=)
c.7596T>A (p.Gly2532=)
c.7407T>A (p.Gly2469=)
c.5811T>A (p.Gly1937=)
n.7947T>A
6g.51867926C>ACA364418382PKHD1c.7670G>T (p.Gly2557Val)
c.7028G>T (p.Gly2343Val)
c.6959G>T (p.Gly2320Val)
c.1745G>T (p.Gly582Val)
c.7595G>T (p.Gly2532Val)
c.7406G>T (p.Gly2469Val)
c.5810G>T (p.Gly1937Val)
n.7946G>T
 dbSNP gnomAD v2 gnomAD v4
6g.51867926C=CA1628582981PKHD1c.7670G= (p.Gly2557=)
c.7028G= (p.Gly2343=)
c.6959G= (p.Gly2320=)
c.1745G= (p.Gly582=)
c.7595G= (p.Gly2532=)
c.7406G= (p.Gly2469=)
c.5810G= (p.Gly1937=)
n.7946G=
6g.51867926C>GCA364418384PKHD1c.7670G>C (p.Gly2557Ala)
c.7028G>C (p.Gly2343Ala)
c.6959G>C (p.Gly2320Ala)
c.1745G>C (p.Gly582Ala)
c.7595G>C (p.Gly2532Ala)
c.7406G>C (p.Gly2469Ala)
c.5810G>C (p.Gly1937Ala)
n.7946G>C
6g.51867926C>TCA364418386PKHD1c.7670G>A (p.Gly2557Asp)
c.7028G>A (p.Gly2343Asp)
c.6959G>A (p.Gly2320Asp)
c.1745G>A (p.Gly582Asp)
c.7595G>A (p.Gly2532Asp)
c.7406G>A (p.Gly2469Asp)
c.5810G>A (p.Gly1937Asp)
n.7946G>A
 gnomAD v4
6g.51867927C>ACA364418390PKHD1c.7669G>T (p.Gly2557Cys)
c.7027G>T (p.Gly2343Cys)
c.6958G>T (p.Gly2320Cys)
c.1744G>T (p.Gly582Cys)
c.7594G>T (p.Gly2532Cys)
c.7405G>T (p.Gly2469Cys)
c.5809G>T (p.Gly1937Cys)
n.7945G>T
6g.51867927C>GCA364418392PKHD1c.7669G>C (p.Gly2557Arg)
c.7027G>C (p.Gly2343Arg)
c.6958G>C (p.Gly2320Arg)
c.1744G>C (p.Gly582Arg)
c.7594G>C (p.Gly2532Arg)
c.7405G>C (p.Gly2469Arg)
c.5809G>C (p.Gly1937Arg)
n.7945G>C
6g.51867927C>TCA364418395PKHD1c.7669G>A (p.Gly2557Ser)
c.7027G>A (p.Gly2343Ser)
c.6958G>A (p.Gly2320Ser)
c.1744G>A (p.Gly582Ser)
c.7594G>A (p.Gly2532Ser)
c.7405G>A (p.Gly2469Ser)
c.5809G>A (p.Gly1937Ser)
n.7945G>A
6g.51867928A>CCA364418399PKHD1c.7668T>G (p.Phe2556Leu)
c.7026T>G (p.Phe2342Leu)
c.6957T>G (p.Phe2319Leu)
c.1743T>G (p.Phe581Leu)
c.7593T>G (p.Phe2531Leu)
c.7404T>G (p.Phe2468Leu)
c.5808T>G (p.Phe1936Leu)
n.7944T>G
 gnomAD v4
6g.51867928A>GCA450614084PKHD1c.7668T>C (p.Phe2556=)
c.7026T>C (p.Phe2342=)
c.6957T>C (p.Phe2319=)
c.1743T>C (p.Phe581=)
c.7593T>C (p.Phe2531=)
c.7404T>C (p.Phe2468=)
c.5808T>C (p.Phe1936=)
n.7944T>C
6g.51867928A>TCA364418402PKHD1c.7668T>A (p.Phe2556Leu)
c.7026T>A (p.Phe2342Leu)
c.6957T>A (p.Phe2319Leu)
c.1743T>A (p.Phe581Leu)
c.7593T>A (p.Phe2531Leu)
c.7404T>A (p.Phe2468Leu)
c.5808T>A (p.Phe1936Leu)
n.7944T>A
6g.51867929A=CA1628582983PKHD1c.7667T= (p.Phe2556=)
c.7025T= (p.Phe2342=)
c.6956T= (p.Phe2319=)
c.1742T= (p.Phe581=)
c.7592T= (p.Phe2531=)
c.7403T= (p.Phe2468=)
c.5807T= (p.Phe1936=)
n.7943T=
6g.51867929A>CCA364418405PKHD1c.7667T>G (p.Phe2556Cys)
c.7025T>G (p.Phe2342Cys)
c.6956T>G (p.Phe2319Cys)
c.1742T>G (p.Phe581Cys)
c.7592T>G (p.Phe2531Cys)
c.7403T>G (p.Phe2468Cys)
c.5807T>G (p.Phe1936Cys)
n.7943T>G
6g.51867929A>GCA364418412PKHD1c.7667T>C (p.Phe2556Ser)
c.7025T>C (p.Phe2342Ser)
c.6956T>C (p.Phe2319Ser)
c.1742T>C (p.Phe581Ser)
c.7592T>C (p.Phe2531Ser)
c.7403T>C (p.Phe2468Ser)
c.5807T>C (p.Phe1936Ser)
n.7943T>C
 dbSNP
6g.51867929A>TCA364418409PKHD1c.7667T>A (p.Phe2556Tyr)
c.7025T>A (p.Phe2342Tyr)
c.6956T>A (p.Phe2319Tyr)
c.1742T>A (p.Phe581Tyr)
c.7592T>A (p.Phe2531Tyr)
c.7403T>A (p.Phe2468Tyr)
c.5807T>A (p.Phe1936Tyr)
n.7943T>A
6g.51867930A>CCA364418416PKHD1c.7666T>G (p.Phe2556Val)
c.7024T>G (p.Phe2342Val)
c.6955T>G (p.Phe2319Val)
c.1741T>G (p.Phe581Val)
c.7591T>G (p.Phe2531Val)
c.7402T>G (p.Phe2468Val)
c.5806T>G (p.Phe1936Val)
n.7942T>G
6g.51867930A>GCA364418419PKHD1c.7666T>C (p.Phe2556Leu)
c.7024T>C (p.Phe2342Leu)
c.6955T>C (p.Phe2319Leu)
c.1741T>C (p.Phe581Leu)
c.7591T>C (p.Phe2531Leu)
c.7402T>C (p.Phe2468Leu)
c.5806T>C (p.Phe1936Leu)
n.7942T>C
6g.51867930A>TCA364418421PKHD1c.7666T>A (p.Phe2556Ile)
c.7024T>A (p.Phe2342Ile)
c.6955T>A (p.Phe2319Ile)
c.1741T>A (p.Phe581Ile)
c.7591T>A (p.Phe2531Ile)
c.7402T>A (p.Phe2468Ile)
c.5806T>A (p.Phe1936Ile)
n.7942T>A
6g.51867931G>ACA3851878PKHD1c.7665C>T (p.Ser2555=)
c.7023C>T (p.Ser2341=)
c.6954C>T (p.Ser2318=)
c.1740C>T (p.Ser580=)
c.7590C>T (p.Ser2530=)
c.7401C>T (p.Ser2467=)
c.5805C>T (p.Ser1935=)
n.7941C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51867931G>CCA364418428PKHD1c.7665C>G (p.Ser2555Arg)
c.7023C>G (p.Ser2341Arg)
c.6954C>G (p.Ser2318Arg)
c.1740C>G (p.Ser580Arg)
c.7590C>G (p.Ser2530Arg)
c.7401C>G (p.Ser2467Arg)
c.5805C>G (p.Ser1935Arg)
n.7941C>G
6g.51867931G=CA1628582986PKHD1c.7665C= (p.Ser2555=)
c.7023C= (p.Ser2341=)
c.6954C= (p.Ser2318=)
c.1740C= (p.Ser580=)
c.7590C= (p.Ser2530=)
c.7401C= (p.Ser2467=)
c.5805C= (p.Ser1935=)
n.7941C=
6g.51867931G>TCA364418430PKHD1c.7665C>A (p.Ser2555Arg)
c.7023C>A (p.Ser2341Arg)
c.6954C>A (p.Ser2318Arg)
c.1740C>A (p.Ser580Arg)
c.7590C>A (p.Ser2530Arg)
c.7401C>A (p.Ser2467Arg)
c.5805C>A (p.Ser1935Arg)
n.7941C>A
6g.51867932C>ACA3851879PKHD1c.7664G>T (p.Ser2555Ile)
c.7022G>T (p.Ser2341Ile)
c.6953G>T (p.Ser2318Ile)
c.1739G>T (p.Ser580Ile)
c.7589G>T (p.Ser2530Ile)
c.7400G>T (p.Ser2467Ile)
c.5804G>T (p.Ser1935Ile)
n.7940G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51867932C=CA1628582988PKHD1c.7664G= (p.Ser2555=)
c.7022G= (p.Ser2341=)
c.6953G= (p.Ser2318=)
c.1739G= (p.Ser580=)
c.7589G= (p.Ser2530=)
c.7400G= (p.Ser2467=)
c.5804G= (p.Ser1935=)
n.7940G=
6g.51867932C>GCA364418434PKHD1c.7664G>C (p.Ser2555Thr)
c.7022G>C (p.Ser2341Thr)
c.6953G>C (p.Ser2318Thr)
c.1739G>C (p.Ser580Thr)
c.7589G>C (p.Ser2530Thr)
c.7400G>C (p.Ser2467Thr)
c.5804G>C (p.Ser1935Thr)
n.7940G>C
6g.51867932C>TCA364418437PKHD1c.7664G>A (p.Ser2555Asn)
c.7022G>A (p.Ser2341Asn)
c.6953G>A (p.Ser2318Asn)
c.1739G>A (p.Ser580Asn)
c.7589G>A (p.Ser2530Asn)
c.7400G>A (p.Ser2467Asn)
c.5804G>A (p.Ser1935Asn)
n.7940G>A
 dbSNP
6g.51867933T>ACA364418441PKHD1c.7663A>T (p.Ser2555Cys)
c.7021A>T (p.Ser2341Cys)
c.6952A>T (p.Ser2318Cys)
c.1738A>T (p.Ser580Cys)
c.7588A>T (p.Ser2530Cys)
c.7399A>T (p.Ser2467Cys)
c.5803A>T (p.Ser1935Cys)
n.7939A>T
6g.51867933T>CCA364418443PKHD1c.7663A>G (p.Ser2555Gly)
c.7021A>G (p.Ser2341Gly)
c.6952A>G (p.Ser2318Gly)
c.1738A>G (p.Ser580Gly)
c.7588A>G (p.Ser2530Gly)
c.7399A>G (p.Ser2467Gly)
c.5803A>G (p.Ser1935Gly)
n.7939A>G
6g.51867933T>GCA364418444PKHD1c.7663A>C (p.Ser2555Arg)
c.7021A>C (p.Ser2341Arg)
c.6952A>C (p.Ser2318Arg)
c.1738A>C (p.Ser580Arg)
c.7588A>C (p.Ser2530Arg)
c.7399A>C (p.Ser2467Arg)
c.5803A>C (p.Ser1935Arg)
n.7939A>C
6g.51867934T>ACA450614090PKHD1c.7662A>T (p.Ser2554=)
c.7020A>T (p.Ser2340=)
c.6951A>T (p.Ser2317=)
c.1737A>T (p.Ser579=)
c.7587A>T (p.Ser2529=)
c.7398A>T (p.Ser2466=)
c.5802A>T (p.Ser1934=)
n.7938A>T
 gnomAD v4
6g.51867934T>CCA450614092PKHD1c.7662A>G (p.Ser2554=)
c.7020A>G (p.Ser2340=)
c.6951A>G (p.Ser2317=)
c.1737A>G (p.Ser579=)
c.7587A>G (p.Ser2529=)
c.7398A>G (p.Ser2466=)
c.5802A>G (p.Ser1934=)
n.7938A>G
 ClinVar
6g.51867934T>GCA450614093PKHD1c.7662A>C (p.Ser2554=)
c.7020A>C (p.Ser2340=)
c.6951A>C (p.Ser2317=)
c.1737A>C (p.Ser579=)
c.7587A>C (p.Ser2529=)
c.7398A>C (p.Ser2466=)
c.5802A>C (p.Ser1934=)
n.7938A>C
6g.51867935G>ACA364418448PKHD1c.7661C>T (p.Ser2554Leu)
c.7019C>T (p.Ser2340Leu)
c.6950C>T (p.Ser2317Leu)
c.1736C>T (p.Ser579Leu)
c.7586C>T (p.Ser2529Leu)
c.7397C>T (p.Ser2466Leu)
c.5801C>T (p.Ser1934Leu)
n.7937C>T
 dbSNP gnomAD v3 gnomAD v4
6g.51867935G>CCA364418445PKHD1c.7661C>G (p.Ser2554Ter)
c.7019C>G (p.Ser2340Ter)
c.6950C>G (p.Ser2317Ter)
c.1736C>G (p.Ser579Ter)
c.7586C>G (p.Ser2529Ter)
c.7397C>G (p.Ser2466Ter)
c.5801C>G (p.Ser1934Ter)
n.7937C>G
6g.51867935G=CA1628582990PKHD1c.7661C= (p.Ser2554=)
c.7019C= (p.Ser2340=)
c.6950C= (p.Ser2317=)
c.1736C= (p.Ser579=)
c.7586C= (p.Ser2529=)
c.7397C= (p.Ser2466=)
c.5801C= (p.Ser1934=)
n.7937C=
6g.51867935G>TCA364418446PKHD1c.7661C>A (p.Ser2554Ter)
c.7019C>A (p.Ser2340Ter)
c.6950C>A (p.Ser2317Ter)
c.1736C>A (p.Ser579Ter)
c.7586C>A (p.Ser2529Ter)
c.7397C>A (p.Ser2466Ter)
c.5801C>A (p.Ser1934Ter)
n.7937C>A
 ClinVar dbSNP
6g.51867935_51867944delCA2695206444PKHD1c.7652_7661del (p.Leu2551Ter)
c.7010_7019del (p.Leu2337Ter)
c.6941_6950del (p.Leu2314Ter)
c.1727_1736del (p.Leu576Ter)
c.7577_7586del (p.Leu2526Ter)
c.7388_7397del (p.Leu2463Ter)
c.5792_5801del (p.Leu1931Ter)
n.7928_7937del
6g.51867936A>CCA364418453PKHD1c.7660T>G (p.Ser2554Ala)
c.7018T>G (p.Ser2340Ala)
c.6949T>G (p.Ser2317Ala)
c.1735T>G (p.Ser579Ala)
c.7585T>G (p.Ser2529Ala)
c.7396T>G (p.Ser2466Ala)
c.5800T>G (p.Ser1934Ala)
n.7936T>G
6g.51867936A>GCA364418455PKHD1c.7660T>C (p.Ser2554Pro)
c.7018T>C (p.Ser2340Pro)
c.6949T>C (p.Ser2317Pro)
c.1735T>C (p.Ser579Pro)
c.7585T>C (p.Ser2529Pro)
c.7396T>C (p.Ser2466Pro)
c.5800T>C (p.Ser1934Pro)
n.7936T>C
6g.51867936A>TCA364418457PKHD1c.7660T>A (p.Ser2554Thr)
c.7018T>A (p.Ser2340Thr)
c.6949T>A (p.Ser2317Thr)
c.1735T>A (p.Ser579Thr)
c.7585T>A (p.Ser2529Thr)
c.7396T>A (p.Ser2466Thr)
c.5800T>A (p.Ser1934Thr)
n.7936T>A
6g.51867937A>CCA364418460PKHD1c.7659T>G (p.Asn2553Lys)
c.7017T>G (p.Asn2339Lys)
c.6948T>G (p.Asn2316Lys)
c.1734T>G (p.Asn578Lys)
c.7584T>G (p.Asn2528Lys)
c.7395T>G (p.Asn2465Lys)
c.5799T>G (p.Asn1933Lys)
n.7935T>G
6g.51867937A>GCA450614095PKHD1c.7659T>C (p.Asn2553=)
c.7017T>C (p.Asn2339=)
c.6948T>C (p.Asn2316=)
c.1734T>C (p.Asn578=)
c.7584T>C (p.Asn2528=)
c.7395T>C (p.Asn2465=)
c.5799T>C (p.Asn1933=)
n.7935T>C
6g.51867937A>TCA364418461PKHD1c.7659T>A (p.Asn2553Lys)
c.7017T>A (p.Asn2339Lys)
c.6948T>A (p.Asn2316Lys)
c.1734T>A (p.Asn578Lys)
c.7584T>A (p.Asn2528Lys)
c.7395T>A (p.Asn2465Lys)
c.5799T>A (p.Asn1933Lys)
n.7935T>A
6g.51867938T>ACA364418463PKHD1c.7658A>T (p.Asn2553Ile)
c.7016A>T (p.Asn2339Ile)
c.6947A>T (p.Asn2316Ile)
c.1733A>T (p.Asn578Ile)
c.7583A>T (p.Asn2528Ile)
c.7394A>T (p.Asn2465Ile)
c.5798A>T (p.Asn1933Ile)
n.7934A>T
6g.51867938T>CCA3851880PKHD1c.7658A>G (p.Asn2553Ser)
c.7016A>G (p.Asn2339Ser)
c.6947A>G (p.Asn2316Ser)
c.1733A>G (p.Asn578Ser)
c.7583A>G (p.Asn2528Ser)
c.7394A>G (p.Asn2465Ser)
c.5798A>G (p.Asn1933Ser)
n.7934A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51867938T>GCA364418466PKHD1c.7658A>C (p.Asn2553Thr)
c.7016A>C (p.Asn2339Thr)
c.6947A>C (p.Asn2316Thr)
c.1733A>C (p.Asn578Thr)
c.7583A>C (p.Asn2528Thr)
c.7394A>C (p.Asn2465Thr)
c.5798A>C (p.Asn1933Thr)
n.7934A>C
6g.51867938T=CA1628582992PKHD1c.7658A= (p.Asn2553=)
c.7016A= (p.Asn2339=)
c.6947A= (p.Asn2316=)
c.1733A= (p.Asn578=)
c.7583A= (p.Asn2528=)
c.7394A= (p.Asn2465=)
c.5798A= (p.Asn1933=)
n.7934A=
6g.51867939T>ACA364418469PKHD1c.7657A>T (p.Asn2553Tyr)
c.7015A>T (p.Asn2339Tyr)
c.6946A>T (p.Asn2316Tyr)
c.1732A>T (p.Asn578Tyr)
c.7582A>T (p.Asn2528Tyr)
c.7393A>T (p.Asn2465Tyr)
c.5797A>T (p.Asn1933Tyr)
n.7933A>T
6g.51867939T>CCA364418471PKHD1c.7657A>G (p.Asn2553Asp)
c.7015A>G (p.Asn2339Asp)
c.6946A>G (p.Asn2316Asp)
c.1732A>G (p.Asn578Asp)
c.7582A>G (p.Asn2528Asp)
c.7393A>G (p.Asn2465Asp)
c.5797A>G (p.Asn1933Asp)
n.7933A>G
 gnomAD v4
6g.51867939T>GCA364418472PKHD1c.7657A>C (p.Asn2553His)
c.7015A>C (p.Asn2339His)
c.6946A>C (p.Asn2316His)
c.1732A>C (p.Asn578His)
c.7582A>C (p.Asn2528His)
c.7393A>C (p.Asn2465His)
c.5797A>C (p.Asn1933His)
n.7933A>C
6g.51867940G>ACA450614102PKHD1c.7656C>T (p.Val2552=)
c.7014C>T (p.Val2338=)
c.6945C>T (p.Val2315=)
c.1731C>T (p.Val577=)
c.7581C>T (p.Val2527=)
c.7392C>T (p.Val2464=)
c.5796C>T (p.Val1932=)
n.7932C>T
 ClinVar dbSNP gnomAD v4
6g.51867940G>CCA450614104PKHD1c.7656C>G (p.Val2552=)
c.7014C>G (p.Val2338=)
c.6945C>G (p.Val2315=)
c.1731C>G (p.Val577=)
c.7581C>G (p.Val2527=)
c.7392C>G (p.Val2464=)
c.5796C>G (p.Val1932=)
n.7932C>G
6g.51867940G=CA1628582994PKHD1c.7656C= (p.Val2552=)
c.7014C= (p.Val2338=)
c.6945C= (p.Val2315=)
c.1731C= (p.Val577=)
c.7581C= (p.Val2527=)
c.7392C= (p.Val2464=)
c.5796C= (p.Val1932=)
n.7932C=
6g.51867940G>TCA450614105PKHD1c.7656C>A (p.Val2552=)
c.7014C>A (p.Val2338=)
c.6945C>A (p.Val2315=)
c.1731C>A (p.Val577=)
c.7581C>A (p.Val2527=)
c.7392C>A (p.Val2464=)
c.5796C>A (p.Val1932=)
n.7932C>A
6g.51867941A>CCA364418479PKHD1c.7655T>G (p.Val2552Gly)
c.7013T>G (p.Val2338Gly)
c.6944T>G (p.Val2315Gly)
c.1730T>G (p.Val577Gly)
c.7580T>G (p.Val2527Gly)
c.7391T>G (p.Val2464Gly)
c.5795T>G (p.Val1932Gly)
n.7931T>G
6g.51867941A>GCA364418477PKHD1c.7655T>C (p.Val2552Ala)
c.7013T>C (p.Val2338Ala)
c.6944T>C (p.Val2315Ala)
c.1730T>C (p.Val577Ala)
c.7580T>C (p.Val2527Ala)
c.7391T>C (p.Val2464Ala)
c.5795T>C (p.Val1932Ala)
n.7931T>C
6g.51867941A>TCA364418475PKHD1c.7655T>A (p.Val2552Asp)
c.7013T>A (p.Val2338Asp)
c.6944T>A (p.Val2315Asp)
c.1730T>A (p.Val577Asp)
c.7580T>A (p.Val2527Asp)
c.7391T>A (p.Val2464Asp)
c.5795T>A (p.Val1932Asp)
n.7931T>A
6g.51867942C>ACA364418481PKHD1c.7654G>T (p.Val2552Phe)
c.7012G>T (p.Val2338Phe)
c.6943G>T (p.Val2315Phe)
c.1729G>T (p.Val577Phe)
c.7579G>T (p.Val2527Phe)
c.7390G>T (p.Val2464Phe)
c.5794G>T (p.Val1932Phe)
n.7930G>T
 dbSNP
6g.51867942C=CA1628582996PKHD1c.7654G= (p.Val2552=)
c.7012G= (p.Val2338=)
c.6943G= (p.Val2315=)
c.1729G= (p.Val577=)
c.7579G= (p.Val2527=)
c.7390G= (p.Val2464=)
c.5794G= (p.Val1932=)
n.7930G=
6g.51867942C>GCA364418483PKHD1c.7654G>C (p.Val2552Leu)
c.7012G>C (p.Val2338Leu)
c.6943G>C (p.Val2315Leu)
c.1729G>C (p.Val577Leu)
c.7579G>C (p.Val2527Leu)
c.7390G>C (p.Val2464Leu)
c.5794G>C (p.Val1932Leu)
n.7930G>C
6g.51867942C>TCA364418485PKHD1c.7654G>A (p.Val2552Ile)
c.7012G>A (p.Val2338Ile)
c.6943G>A (p.Val2315Ile)
c.1729G>A (p.Val577Ile)
c.7579G>A (p.Val2527Ile)
c.7390G>A (p.Val2464Ile)
c.5794G>A (p.Val1932Ile)
n.7930G>A
 gnomAD v4 COSMIC COSMIC
6g.51867943C>ACA364418487PKHD1c.7653G>T (p.Leu2551Phe)
c.7011G>T (p.Leu2337Phe)
c.6942G>T (p.Leu2314Phe)
c.1728G>T (p.Leu576Phe)
c.7578G>T (p.Leu2526Phe)
c.7389G>T (p.Leu2463Phe)
c.5793G>T (p.Leu1931Phe)
n.7929G>T
6g.51867943C=CA1628582998PKHD1c.7653G= (p.Leu2551=)
c.7011G= (p.Leu2337=)
c.6942G= (p.Leu2314=)
c.1728G= (p.Leu576=)
c.7578G= (p.Leu2526=)
c.7389G= (p.Leu2463=)
c.5793G= (p.Leu1931=)
n.7929G=
6g.51867943C>GCA364418489PKHD1c.7653G>C (p.Leu2551Phe)
c.7011G>C (p.Leu2337Phe)
c.6942G>C (p.Leu2314Phe)
c.1728G>C (p.Leu576Phe)
c.7578G>C (p.Leu2526Phe)
c.7389G>C (p.Leu2463Phe)
c.5793G>C (p.Leu1931Phe)
n.7929G>C
6g.51867943C>TCA450614113PKHD1c.7653G>A (p.Leu2551=)
c.7011G>A (p.Leu2337=)
c.6942G>A (p.Leu2314=)
c.1728G>A (p.Leu576=)
c.7578G>A (p.Leu2526=)
c.7389G>A (p.Leu2463=)
c.5793G>A (p.Leu1931=)
n.7929G>A
6g.51867944A=CA1628583000PKHD1c.7652T= (p.Leu2551=)
c.7010T= (p.Leu2337=)
c.6941T= (p.Leu2314=)
c.1727T= (p.Leu576=)
c.7577T= (p.Leu2526=)
c.7388T= (p.Leu2463=)
c.5792T= (p.Leu1931=)
n.7928T=
6g.51867944A>CCA364418491PKHD1c.7652T>G (p.Leu2551Trp)
c.7010T>G (p.Leu2337Trp)
c.6941T>G (p.Leu2314Trp)
c.1727T>G (p.Leu576Trp)
c.7577T>G (p.Leu2526Trp)
c.7388T>G (p.Leu2463Trp)
c.5792T>G (p.Leu1931Trp)
n.7928T>G
6g.51867944A>GCA364418493PKHD1c.7652T>C (p.Leu2551Ser)
c.7010T>C (p.Leu2337Ser)
c.6941T>C (p.Leu2314Ser)
c.1727T>C (p.Leu576Ser)
c.7577T>C (p.Leu2526Ser)
c.7388T>C (p.Leu2463Ser)
c.5792T>C (p.Leu1931Ser)
n.7928T>C
 dbSNP gnomAD v2 gnomAD v4
6g.51867944A>TCA364418495PKHD1c.7652T>A (p.Leu2551Ter)
c.7010T>A (p.Leu2337Ter)
c.6941T>A (p.Leu2314Ter)
c.1727T>A (p.Leu576Ter)
c.7577T>A (p.Leu2526Ter)
c.7388T>A (p.Leu2463Ter)
c.5792T>A (p.Leu1931Ter)
n.7928T>A
6g.51867945_51867946dupCA1628582999PKHD1c.7651_7652dup (p.Leu2551PhefsTer29)
c.7009_7010dup (p.Leu2337PhefsTer29)
c.6940_6941dup (p.Leu2314PhefsTer29)
c.1726_1727dup (p.Leu576PhefsTer29)
c.7576_7577dup (p.Leu2526PhefsTer29)
c.7387_7388dup (p.Leu2463PhefsTer29)
c.5791_5792dup (p.Leu1931PhefsTer29)
n.7927_7928dup
 ClinVar dbSNP
6g.51867945A>CCA364418497PKHD1c.7651T>G (p.Leu2551Val)
c.7009T>G (p.Leu2337Val)
c.6940T>G (p.Leu2314Val)
c.1726T>G (p.Leu576Val)
c.7576T>G (p.Leu2526Val)
c.7387T>G (p.Leu2463Val)
c.5791T>G (p.Leu1931Val)
n.7927T>G
6g.51867945A>GCA450614114PKHD1c.7651T>C (p.Leu2551=)
c.7009T>C (p.Leu2337=)
c.6940T>C (p.Leu2314=)
c.1726T>C (p.Leu576=)
c.7576T>C (p.Leu2526=)
c.7387T>C (p.Leu2463=)
c.5791T>C (p.Leu1931=)
n.7927T>C
6g.51867945A>TCA364418499PKHD1c.7651T>A (p.Leu2551Met)
c.7009T>A (p.Leu2337Met)
c.6940T>A (p.Leu2314Met)
c.1726T>A (p.Leu576Met)
c.7576T>A (p.Leu2526Met)
c.7387T>A (p.Leu2463Met)
c.5791T>A (p.Leu1931Met)
n.7927T>A
6g.51867946A>CCA364418501PKHD1c.7650T>G (p.Cys2550Trp)
c.7008T>G (p.Cys2336Trp)
c.6939T>G (p.Cys2313Trp)
c.1725T>G (p.Cys575Trp)
c.7575T>G (p.Cys2525Trp)
c.7386T>G (p.Cys2462Trp)
c.5790T>G (p.Cys1930Trp)
n.7926T>G
6g.51867946A>GCA450614116PKHD1c.7650T>C (p.Cys2550=)
c.7008T>C (p.Cys2336=)
c.6939T>C (p.Cys2313=)
c.1725T>C (p.Cys575=)
c.7575T>C (p.Cys2525=)
c.7386T>C (p.Cys2462=)
c.5790T>C (p.Cys1930=)
n.7926T>C
6g.51867946A>TCA364418503PKHD1c.7650T>A (p.Cys2550Ter)
c.7008T>A (p.Cys2336Ter)
c.6939T>A (p.Cys2313Ter)
c.1725T>A (p.Cys575Ter)
c.7575T>A (p.Cys2525Ter)
c.7386T>A (p.Cys2462Ter)
c.5790T>A (p.Cys1930Ter)
n.7926T>A
6g.51867947C>ACA364418509PKHD1c.7649G>T (p.Cys2550Phe)
c.7007G>T (p.Cys2336Phe)
c.6938G>T (p.Cys2313Phe)
c.1724G>T (p.Cys575Phe)
c.7574G>T (p.Cys2525Phe)
c.7385G>T (p.Cys2462Phe)
c.5789G>T (p.Cys1930Phe)
n.7925G>T
6g.51867947C>GCA364418507PKHD1c.7649G>C (p.Cys2550Ser)
c.7007G>C (p.Cys2336Ser)
c.6938G>C (p.Cys2313Ser)
c.1724G>C (p.Cys575Ser)
c.7574G>C (p.Cys2525Ser)
c.7385G>C (p.Cys2462Ser)
c.5789G>C (p.Cys1930Ser)
n.7925G>C
 gnomAD v4
6g.51867947C>TCA364418505PKHD1c.7649G>A (p.Cys2550Tyr)
c.7007G>A (p.Cys2336Tyr)
c.6938G>A (p.Cys2313Tyr)
c.1724G>A (p.Cys575Tyr)
c.7574G>A (p.Cys2525Tyr)
c.7385G>A (p.Cys2462Tyr)
c.5789G>A (p.Cys1930Tyr)
n.7925G>A
6g.51867948A>CCA364418511PKHD1c.7648T>G (p.Cys2550Gly)
c.7006T>G (p.Cys2336Gly)
c.6937T>G (p.Cys2313Gly)
c.1723T>G (p.Cys575Gly)
c.7573T>G (p.Cys2525Gly)
c.7384T>G (p.Cys2462Gly)
c.5788T>G (p.Cys1930Gly)
n.7924T>G
6g.51867948A>GCA364418513PKHD1c.7648T>C (p.Cys2550Arg)
c.7006T>C (p.Cys2336Arg)
c.6937T>C (p.Cys2313Arg)
c.1723T>C (p.Cys575Arg)
c.7573T>C (p.Cys2525Arg)
c.7384T>C (p.Cys2462Arg)
c.5788T>C (p.Cys1930Arg)
n.7924T>C
6g.51867948A>TCA364418515PKHD1c.7648T>A (p.Cys2550Ser)
c.7006T>A (p.Cys2336Ser)
c.6937T>A (p.Cys2313Ser)
c.1723T>A (p.Cys575Ser)
c.7573T>A (p.Cys2525Ser)
c.7384T>A (p.Cys2462Ser)
c.5788T>A (p.Cys1930Ser)
n.7924T>A
6g.51867949A>CCA450614124PKHD1c.7647T>G (p.Ser2549=)
c.7005T>G (p.Ser2335=)
c.6936T>G (p.Ser2312=)
c.1722T>G (p.Ser574=)
c.7572T>G (p.Ser2524=)
c.7383T>G (p.Ser2461=)
c.5787T>G (p.Ser1929=)
n.7923T>G
6g.51867949A>GCA450614125PKHD1c.7647T>C (p.Ser2549=)
c.7005T>C (p.Ser2335=)
c.6936T>C (p.Ser2312=)
c.1722T>C (p.Ser574=)
c.7572T>C (p.Ser2524=)
c.7383T>C (p.Ser2461=)
c.5787T>C (p.Ser1929=)
n.7923T>C
 gnomAD v4
6g.51867949A>TCA450614126PKHD1c.7647T>A (p.Ser2549=)
c.7005T>A (p.Ser2335=)
c.6936T>A (p.Ser2312=)
c.1722T>A (p.Ser574=)
c.7572T>A (p.Ser2524=)
c.7383T>A (p.Ser2461=)
c.5787T>A (p.Ser1929=)
n.7923T>A
6g.51867950G>ACA364418517PKHD1c.7646C>T (p.Ser2549Phe)
c.7004C>T (p.Ser2335Phe)
c.6935C>T (p.Ser2312Phe)
c.1721C>T (p.Ser574Phe)
c.7571C>T (p.Ser2524Phe)
c.7382C>T (p.Ser2461Phe)
c.5786C>T (p.Ser1929Phe)
n.7922C>T
6g.51867950G>CCA364418519PKHD1c.7646C>G (p.Ser2549Cys)
c.7004C>G (p.Ser2335Cys)
c.6935C>G (p.Ser2312Cys)
c.1721C>G (p.Ser574Cys)
c.7571C>G (p.Ser2524Cys)
c.7382C>G (p.Ser2461Cys)
c.5786C>G (p.Ser1929Cys)
n.7922C>G
 dbSNP gnomAD v3 gnomAD v4
6g.51867950G=CA1628583002PKHD1c.7646C= (p.Ser2549=)
c.7004C= (p.Ser2335=)
c.6935C= (p.Ser2312=)
c.1721C= (p.Ser574=)
c.7571C= (p.Ser2524=)
c.7382C= (p.Ser2461=)
c.5786C= (p.Ser1929=)
n.7922C=
6g.51867950G>TCA364418520PKHD1c.7646C>A (p.Ser2549Tyr)
c.7004C>A (p.Ser2335Tyr)
c.6935C>A (p.Ser2312Tyr)
c.1721C>A (p.Ser574Tyr)
c.7571C>A (p.Ser2524Tyr)
c.7382C>A (p.Ser2461Tyr)
c.5786C>A (p.Ser1929Tyr)
n.7922C>A
6g.51867951A=CA1628583004PKHD1c.7645T= (p.Ser2549=)
c.7003T= (p.Ser2335=)
c.6934T= (p.Ser2312=)
c.1720T= (p.Ser574=)
c.7570T= (p.Ser2524=)
c.7381T= (p.Ser2461=)
c.5785T= (p.Ser1929=)
n.7921T=
6g.51867951A>CCA364418522PKHD1c.7645T>G (p.Ser2549Ala)
c.7003T>G (p.Ser2335Ala)
c.6934T>G (p.Ser2312Ala)
c.1720T>G (p.Ser574Ala)
c.7570T>G (p.Ser2524Ala)
c.7381T>G (p.Ser2461Ala)
c.5785T>G (p.Ser1929Ala)
n.7921T>G
6g.51867951A>GCA364418524PKHD1c.7645T>C (p.Ser2549Pro)
c.7003T>C (p.Ser2335Pro)
c.6934T>C (p.Ser2312Pro)
c.1720T>C (p.Ser574Pro)
c.7570T>C (p.Ser2524Pro)
c.7381T>C (p.Ser2461Pro)
c.5785T>C (p.Ser1929Pro)
n.7921T>C
6g.51867951A>TCA364418526PKHD1c.7645T>A (p.Ser2549Thr)
c.7003T>A (p.Ser2335Thr)
c.6934T>A (p.Ser2312Thr)
c.1720T>A (p.Ser574Thr)
c.7570T>A (p.Ser2524Thr)
c.7381T>A (p.Ser2461Thr)
c.5785T>A (p.Ser1929Thr)
n.7921T>A
6g.51867951_51867952insCATCA825727800PKHD1c.7644_7645insATG (p.Ala2548_Ser2549insMet)
c.7002_7003insATG (p.Ala2334_Ser2335insMet)
c.6933_6934insATG (p.Ala2311_Ser2312insMet)
c.1719_1720insATG (p.Ala573_Ser574insMet)
c.7569_7570insATG (p.Ala2523_Ser2524insMet)
c.7380_7381insATG (p.Ala2460_Ser2461insMet)
c.5784_5785insATG (p.Ala1928_Ser1929insMet)
n.7920_7921insATG
 dbSNP
6g.51867952A=CA1628583007PKHD1c.7644T= (p.Ala2548=)
c.7002T= (p.Ala2334=)
c.6933T= (p.Ala2311=)
c.1719T= (p.Ala573=)
c.7569T= (p.Ala2523=)
c.7380T= (p.Ala2460=)
c.5784T= (p.Ala1928=)
n.7920T=
6g.51867952A>CCA450614132PKHD1c.7644T>G (p.Ala2548=)
c.7002T>G (p.Ala2334=)
c.6933T>G (p.Ala2311=)
c.1719T>G (p.Ala573=)
c.7569T>G (p.Ala2523=)
c.7380T>G (p.Ala2460=)
c.5784T>G (p.Ala1928=)
n.7920T>G
6g.51867952A>GCA3851881PKHD1c.7644T>C (p.Ala2548=)
c.7002T>C (p.Ala2334=)
c.6933T>C (p.Ala2311=)
c.1719T>C (p.Ala573=)
c.7569T>C (p.Ala2523=)
c.7380T>C (p.Ala2460=)
c.5784T>C (p.Ala1928=)
n.7920T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51867952A>TCA450614133PKHD1c.7644T>A (p.Ala2548=)
c.7002T>A (p.Ala2334=)
c.6933T>A (p.Ala2311=)
c.1719T>A (p.Ala573=)
c.7569T>A (p.Ala2523=)
c.7380T>A (p.Ala2460=)
c.5784T>A (p.Ala1928=)
n.7920T>A
6g.51867953G>ACA364418530PKHD1c.7643C>T (p.Ala2548Val)
c.7001C>T (p.Ala2334Val)
c.6932C>T (p.Ala2311Val)
c.1718C>T (p.Ala573Val)
c.7568C>T (p.Ala2523Val)
c.7379C>T (p.Ala2460Val)
c.5783C>T (p.Ala1928Val)
n.7919C>T
6g.51867953G>CCA364418531PKHD1c.7643C>G (p.Ala2548Gly)
c.7001C>G (p.Ala2334Gly)
c.6932C>G (p.Ala2311Gly)
c.1718C>G (p.Ala573Gly)
c.7568C>G (p.Ala2523Gly)
c.7379C>G (p.Ala2460Gly)
c.5783C>G (p.Ala1928Gly)
n.7919C>G
6g.51867953G>TCA364418534PKHD1c.7643C>A (p.Ala2548Asp)
c.7001C>A (p.Ala2334Asp)
c.6932C>A (p.Ala2311Asp)
c.1718C>A (p.Ala573Asp)
c.7568C>A (p.Ala2523Asp)
c.7379C>A (p.Ala2460Asp)
c.5783C>A (p.Ala1928Asp)
n.7919C>A
6g.51867953_51867955delinsGCTCA1628583009PKHD1c.7641_7643delinsAGC (p.Ser2547=)
c.6999_7001delinsAGC (p.Ser2333=)
c.6930_6932delinsAGC (p.Ser2310=)
c.1716_1718delinsAGC (p.Ser572=)
c.7566_7568delinsAGC (p.Ser2522=)
c.7377_7379delinsAGC (p.Ser2459=)
c.5781_5783delinsAGC (p.Ser1927=)
n.7917_7919delinsAGC
6g.51867954C>ACA364418538PKHD1c.7642G>T (p.Ala2548Ser)
c.7000G>T (p.Ala2334Ser)
c.6931G>T (p.Ala2311Ser)
c.1717G>T (p.Ala573Ser)
c.7567G>T (p.Ala2523Ser)
c.7378G>T (p.Ala2460Ser)
c.5782G>T (p.Ala1928Ser)
n.7918G>T
6g.51867954C=CA1628583011PKHD1c.7642G= (p.Ala2548=)
c.7000G= (p.Ala2334=)
c.6931G= (p.Ala2311=)
c.1717G= (p.Ala573=)
c.7567G= (p.Ala2523=)
c.7378G= (p.Ala2460=)
c.5782G= (p.Ala1928=)
n.7918G=
6g.51867954C>GCA364418540PKHD1c.7642G>C (p.Ala2548Pro)
c.7000G>C (p.Ala2334Pro)
c.6931G>C (p.Ala2311Pro)
c.1717G>C (p.Ala573Pro)
c.7567G>C (p.Ala2523Pro)
c.7378G>C (p.Ala2460Pro)
c.5782G>C (p.Ala1928Pro)
n.7918G>C
6g.51867954C>TCA3851882PKHD1c.7642G>A (p.Ala2548Thr)
c.7000G>A (p.Ala2334Thr)
c.6931G>A (p.Ala2311Thr)
c.1717G>A (p.Ala573Thr)
c.7567G>A (p.Ala2523Thr)
c.7378G>A (p.Ala2460Thr)
c.5782G>A (p.Ala1928Thr)
n.7918G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51867954_51867955delCA825727801PKHD1c.7641_7642del (p.Ala2548PhefsTer?)
c.6999_7000del (p.Ala2334PhefsTer?)
c.6930_6931del (p.Ala2311PhefsTer?)
c.1716_1717del (p.Ala573PhefsTer?)
c.7566_7567del (p.Ala2523PhefsTer?)
c.7377_7378del (p.Ala2460PhefsTer?)
c.5781_5782del (p.Ala1928PhefsTer?)
n.7917_7918del
 dbSNP
6g.51867955T>ACA450614138PKHD1c.7641A>T (p.Ser2547=)
c.6999A>T (p.Ser2333=)
c.6930A>T (p.Ser2310=)
c.1716A>T (p.Ser572=)
c.7566A>T (p.Ser2522=)
c.7377A>T (p.Ser2459=)
c.5781A>T (p.Ser1927=)
n.7917A>T
6g.51867955T>CCA3851883PKHD1c.7641A>G (p.Ser2547=)
c.6999A>G (p.Ser2333=)
c.6930A>G (p.Ser2310=)
c.1716A>G (p.Ser572=)
c.7566A>G (p.Ser2522=)
c.7377A>G (p.Ser2459=)
c.5781A>G (p.Ser1927=)
n.7917A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51867955T>GCA450614139PKHD1c.7641A>C (p.Ser2547=)
c.6999A>C (p.Ser2333=)
c.6930A>C (p.Ser2310=)
c.1716A>C (p.Ser572=)
c.7566A>C (p.Ser2522=)
c.7377A>C (p.Ser2459=)
c.5781A>C (p.Ser1927=)
n.7917A>C
6g.51867955T=CA1628583014PKHD1c.7641A= (p.Ser2547=)
c.6999A= (p.Ser2333=)
c.6930A= (p.Ser2310=)
c.1716A= (p.Ser572=)
c.7566A= (p.Ser2522=)
c.7377A= (p.Ser2459=)
c.5781A= (p.Ser1927=)
n.7917A=
6g.51867956G>ACA364418542PKHD1c.7640C>T (p.Ser2547Leu)
c.6998C>T (p.Ser2333Leu)
c.6929C>T (p.Ser2310Leu)
c.1715C>T (p.Ser572Leu)
c.7565C>T (p.Ser2522Leu)
c.7376C>T (p.Ser2459Leu)
c.5780C>T (p.Ser1927Leu)
n.7916C>T
6g.51867956G>CCA364418545PKHD1c.7640C>G (p.Ser2547Ter)
c.6998C>G (p.Ser2333Ter)
c.6929C>G (p.Ser2310Ter)
c.1715C>G (p.Ser572Ter)
c.7565C>G (p.Ser2522Ter)
c.7376C>G (p.Ser2459Ter)
c.5780C>G (p.Ser1927Ter)
n.7916C>G
6g.51867956G>TCA364418544PKHD1c.7640C>A (p.Ser2547Ter)
c.6998C>A (p.Ser2333Ter)
c.6929C>A (p.Ser2310Ter)
c.1715C>A (p.Ser572Ter)
c.7565C>A (p.Ser2522Ter)
c.7376C>A (p.Ser2459Ter)
c.5780C>A (p.Ser1927Ter)
n.7916C>A
6g.51867957A>CCA364418547PKHD1c.7639T>G (p.Ser2547Ala)
c.6997T>G (p.Ser2333Ala)
c.6928T>G (p.Ser2310Ala)
c.1714T>G (p.Ser572Ala)
c.7564T>G (p.Ser2522Ala)
c.7375T>G (p.Ser2459Ala)
c.5779T>G (p.Ser1927Ala)
n.7915T>G
6g.51867957A>GCA364418549PKHD1c.7639T>C (p.Ser2547Pro)
c.6997T>C (p.Ser2333Pro)
c.6928T>C (p.Ser2310Pro)
c.1714T>C (p.Ser572Pro)
c.7564T>C (p.Ser2522Pro)
c.7375T>C (p.Ser2459Pro)
c.5779T>C (p.Ser1927Pro)
n.7915T>C
6g.51867957A>TCA364418550PKHD1c.7639T>A (p.Ser2547Thr)
c.6997T>A (p.Ser2333Thr)
c.6928T>A (p.Ser2310Thr)
c.1714T>A (p.Ser572Thr)
c.7564T>A (p.Ser2522Thr)
c.7375T>A (p.Ser2459Thr)
c.5779T>A (p.Ser1927Thr)
n.7915T>A
6g.51867958A>CCA450614146PKHD1c.7638T>G (p.Leu2546=)
c.6996T>G (p.Leu2332=)
c.6927T>G (p.Leu2309=)
c.1713T>G (p.Leu571=)
c.7563T>G (p.Leu2521=)
c.7374T>G (p.Leu2458=)
c.5778T>G (p.Leu1926=)
n.7914T>G
6g.51867958A>GCA450614147PKHD1c.7638T>C (p.Leu2546=)
c.6996T>C (p.Leu2332=)
c.6927T>C (p.Leu2309=)
c.1713T>C (p.Leu571=)
c.7563T>C (p.Leu2521=)
c.7374T>C (p.Leu2458=)
c.5778T>C (p.Leu1926=)
n.7914T>C
6g.51867958A>TCA450614148PKHD1c.7638T>A (p.Leu2546=)
c.6996T>A (p.Leu2332=)
c.6927T>A (p.Leu2309=)
c.1713T>A (p.Leu571=)
c.7563T>A (p.Leu2521=)
c.7374T>A (p.Leu2458=)
c.5778T>A (p.Leu1926=)
n.7914T>A
6g.51867959A>CCA364418553PKHD1c.7637T>G (p.Leu2546Arg)
c.6995T>G (p.Leu2332Arg)
c.6926T>G (p.Leu2309Arg)
c.1712T>G (p.Leu571Arg)
c.7562T>G (p.Leu2521Arg)
c.7373T>G (p.Leu2458Arg)
c.5777T>G (p.Leu1926Arg)
n.7913T>G
6g.51867959A>GCA364418555PKHD1c.7637T>C (p.Leu2546Pro)
c.6995T>C (p.Leu2332Pro)
c.6926T>C (p.Leu2309Pro)
c.1712T>C (p.Leu571Pro)
c.7562T>C (p.Leu2521Pro)
c.7373T>C (p.Leu2458Pro)
c.5777T>C (p.Leu1926Pro)
n.7913T>C
6g.51867959A>TCA364418557PKHD1c.7637T>A (p.Leu2546His)
c.6995T>A (p.Leu2332His)
c.6926T>A (p.Leu2309His)
c.1712T>A (p.Leu571His)
c.7562T>A (p.Leu2521His)
c.7373T>A (p.Leu2458His)
c.5777T>A (p.Leu1926His)
n.7913T>A
6g.51867959_51867960delinsAGCA1628583017PKHD1c.7636_7637delinsCT (p.Leu2546=)
c.6994_6995delinsCT (p.Leu2332=)
c.6925_6926delinsCT (p.Leu2309=)
c.1711_1712delinsCT (p.Leu571=)
c.7561_7562delinsCT (p.Leu2521=)
c.7372_7373delinsCT (p.Leu2458=)
c.5776_5777delinsCT (p.Leu1926=)
n.7912_7913delinsCT
6g.51867960G>ACA364418559PKHD1c.7636C>T (p.Leu2546Phe)
c.6994C>T (p.Leu2332Phe)
c.6925C>T (p.Leu2309Phe)
c.1711C>T (p.Leu571Phe)
c.7561C>T (p.Leu2521Phe)
c.7372C>T (p.Leu2458Phe)
c.5776C>T (p.Leu1926Phe)
n.7912C>T
 COSMIC COSMIC
6g.51867960G>CCA364418560PKHD1c.7636C>G (p.Leu2546Val)
c.6994C>G (p.Leu2332Val)
c.6925C>G (p.Leu2309Val)
c.1711C>G (p.Leu571Val)
c.7561C>G (p.Leu2521Val)
c.7372C>G (p.Leu2458Val)
c.5776C>G (p.Leu1926Val)
n.7912C>G
6g.51867960G>TCA364418561PKHD1c.7636C>A (p.Leu2546Ile)
c.6994C>A (p.Leu2332Ile)
c.6925C>A (p.Leu2309Ile)
c.1711C>A (p.Leu571Ile)
c.7561C>A (p.Leu2521Ile)
c.7372C>A (p.Leu2458Ile)
c.5776C>A (p.Leu1926Ile)
n.7912C>A
 COSMIC COSMIC
6g.51867962delCA1139659626PKHD1c.7636del (p.Leu2546PhefsTer?)
c.6994del (p.Leu2332PhefsTer?)
c.6925del (p.Leu2309PhefsTer?)
c.1711del (p.Leu571PhefsTer?)
c.7561del (p.Leu2521PhefsTer?)
c.7372del (p.Leu2458PhefsTer?)
c.5776del (p.Leu1926PhefsTer?)
n.7912del
 ClinVar dbSNP gnomAD v4
6g.51867961G>ACA3851885PKHD1c.7635C>T (p.Thr2545=)
c.6993C>T (p.Thr2331=)
c.6924C>T (p.Thr2308=)
c.1710C>T (p.Thr570=)
c.7560C>T (p.Thr2520=)
c.7371C>T (p.Thr2457=)
c.5775C>T (p.Thr1925=)
n.7911C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51867961G>CCA3851884PKHD1c.7635C>G (p.Thr2545=)
c.6993C>G (p.Thr2331=)
c.6924C>G (p.Thr2308=)
c.1710C>G (p.Thr570=)
c.7560C>G (p.Thr2520=)
c.7371C>G (p.Thr2457=)
c.5775C>G (p.Thr1925=)
n.7911C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51867961G=CA1628583023PKHD1c.7635C= (p.Thr2545=)
c.6993C= (p.Thr2331=)
c.6924C= (p.Thr2308=)
c.1710C= (p.Thr570=)
c.7560C= (p.Thr2520=)
c.7371C= (p.Thr2457=)
c.5775C= (p.Thr1925=)
n.7911C=
6g.51867961G>TCA450614155PKHD1c.7635C>A (p.Thr2545=)
c.6993C>A (p.Thr2331=)
c.6924C>A (p.Thr2308=)
c.1710C>A (p.Thr570=)
c.7560C>A (p.Thr2520=)
c.7371C>A (p.Thr2457=)
c.5775C>A (p.Thr1925=)
n.7911C>A
 ClinVar gnomAD v4
6g.51867962G>ACA364418568PKHD1c.7634C>T (p.Thr2545Ile)
c.6992C>T (p.Thr2331Ile)
c.6923C>T (p.Thr2308Ile)
c.1709C>T (p.Thr570Ile)
c.7559C>T (p.Thr2520Ile)
c.7370C>T (p.Thr2457Ile)
c.5774C>T (p.Thr1925Ile)
n.7910C>T
6g.51867962G>CCA364418571PKHD1c.7634C>G (p.Thr2545Ser)
c.6992C>G (p.Thr2331Ser)
c.6923C>G (p.Thr2308Ser)
c.1709C>G (p.Thr570Ser)
c.7559C>G (p.Thr2520Ser)
c.7370C>G (p.Thr2457Ser)
c.5774C>G (p.Thr1925Ser)
n.7910C>G
6g.51867962G>TCA364418574PKHD1c.7634C>A (p.Thr2545Asn)
c.6992C>A (p.Thr2331Asn)
c.6923C>A (p.Thr2308Asn)
c.1709C>A (p.Thr570Asn)
c.7559C>A (p.Thr2520Asn)
c.7370C>A (p.Thr2457Asn)
c.5774C>A (p.Thr1925Asn)
n.7910C>A
6g.51867963T>ACA364418582PKHD1c.7633A>T (p.Thr2545Ser)
c.6991A>T (p.Thr2331Ser)
c.6922A>T (p.Thr2308Ser)
c.1708A>T (p.Thr570Ser)
c.7558A>T (p.Thr2520Ser)
c.7369A>T (p.Thr2457Ser)
c.5773A>T (p.Thr1925Ser)
n.7909A>T
6g.51867963T>CCA364418581PKHD1c.7633A>G (p.Thr2545Ala)
c.6991A>G (p.Thr2331Ala)
c.6922A>G (p.Thr2308Ala)
c.1708A>G (p.Thr570Ala)
c.7558A>G (p.Thr2520Ala)
c.7369A>G (p.Thr2457Ala)
c.5773A>G (p.Thr1925Ala)
n.7909A>G
6g.51867963T>GCA364418577PKHD1c.7633A>C (p.Thr2545Pro)
c.6991A>C (p.Thr2331Pro)
c.6922A>C (p.Thr2308Pro)
c.1708A>C (p.Thr570Pro)
c.7558A>C (p.Thr2520Pro)
c.7369A>C (p.Thr2457Pro)
c.5773A>C (p.Thr1925Pro)
n.7909A>C
6g.51867964T>ACA364418586PKHD1c.7632A>T (p.Glu2544Asp)
c.6990A>T (p.Glu2330Asp)
c.6921A>T (p.Glu2307Asp)
c.1707A>T (p.Glu569Asp)
c.7557A>T (p.Glu2519Asp)
c.7368A>T (p.Glu2456Asp)
c.5772A>T (p.Glu1924Asp)
n.7908A>T
6g.51867964T>CCA450614160PKHD1c.7632A>G (p.Glu2544=)
c.6990A>G (p.Glu2330=)
c.6921A>G (p.Glu2307=)
c.1707A>G (p.Glu569=)
c.7557A>G (p.Glu2519=)
c.7368A>G (p.Glu2456=)
c.5772A>G (p.Glu1924=)
n.7908A>G
6g.51867964T>GCA364418588PKHD1c.7632A>C (p.Glu2544Asp)
c.6990A>C (p.Glu2330Asp)
c.6921A>C (p.Glu2307Asp)
c.1707A>C (p.Glu569Asp)
c.7557A>C (p.Glu2519Asp)
c.7368A>C (p.Glu2456Asp)
c.5772A>C (p.Glu1924Asp)
n.7908A>C
6g.51867965T>ACA364418590PKHD1c.7631A>T (p.Glu2544Val)
c.6989A>T (p.Glu2330Val)
c.6920A>T (p.Glu2307Val)
c.1706A>T (p.Glu569Val)
c.7556A>T (p.Glu2519Val)
c.7367A>T (p.Glu2456Val)
c.5771A>T (p.Glu1924Val)
n.7907A>T
 dbSNP
6g.51867965T>CCA364418593PKHD1c.7631A>G (p.Glu2544Gly)
c.6989A>G (p.Glu2330Gly)
c.6920A>G (p.Glu2307Gly)
c.1706A>G (p.Glu569Gly)
c.7556A>G (p.Glu2519Gly)
c.7367A>G (p.Glu2456Gly)
c.5771A>G (p.Glu1924Gly)
n.7907A>G
 dbSNP gnomAD v4
6g.51867965T>GCA364418596PKHD1c.7631A>C (p.Glu2544Ala)
c.6989A>C (p.Glu2330Ala)
c.6920A>C (p.Glu2307Ala)
c.1706A>C (p.Glu569Ala)
c.7556A>C (p.Glu2519Ala)
c.7367A>C (p.Glu2456Ala)
c.5771A>C (p.Glu1924Ala)
n.7907A>C
6g.51867965T=CA1628583026PKHD1c.7631A= (p.Glu2544=)
c.6989A= (p.Glu2330=)
c.6920A= (p.Glu2307=)
c.1706A= (p.Glu569=)
c.7556A= (p.Glu2519=)
c.7367A= (p.Glu2456=)
c.5771A= (p.Glu1924=)
n.7907A=
6g.51867966C>ACA364418601PKHD1c.7630G>T (p.Glu2544Ter)
c.6988G>T (p.Glu2330Ter)
c.6919G>T (p.Glu2307Ter)
c.1705G>T (p.Glu569Ter)
c.7555G>T (p.Glu2519Ter)
c.7366G>T (p.Glu2456Ter)
c.5770G>T (p.Glu1924Ter)
n.7906G>T
6g.51867966C=CA1628583029PKHD1c.7630G= (p.Glu2544=)
c.6988G= (p.Glu2330=)
c.6919G= (p.Glu2307=)
c.1705G= (p.Glu569=)
c.7555G= (p.Glu2519=)
c.7366G= (p.Glu2456=)
c.5770G= (p.Glu1924=)
n.7906G=
6g.51867966C>GCA364418604PKHD1c.7630G>C (p.Glu2544Gln)
c.6988G>C (p.Glu2330Gln)
c.6919G>C (p.Glu2307Gln)
c.1705G>C (p.Glu569Gln)
c.7555G>C (p.Glu2519Gln)
c.7366G>C (p.Glu2456Gln)
c.5770G>C (p.Glu1924Gln)
n.7906G>C
6g.51867966C>TCA364418607PKHD1c.7630G>A (p.Glu2544Lys)
c.6988G>A (p.Glu2330Lys)
c.6919G>A (p.Glu2307Lys)
c.1705G>A (p.Glu569Lys)
c.7555G>A (p.Glu2519Lys)
c.7366G>A (p.Glu2456Lys)
c.5770G>A (p.Glu1924Lys)
n.7906G>A
 dbSNP
6g.51867967C>ACA364418610PKHD1c.7629G>T (p.Met2543Ile)
c.6987G>T (p.Met2329Ile)
c.6918G>T (p.Met2306Ile)
c.1704G>T (p.Met568Ile)
c.7554G>T (p.Met2518Ile)
c.7365G>T (p.Met2455Ile)
c.5769G>T (p.Met1923Ile)
n.7905G>T
6g.51867967C>GCA364418612PKHD1c.7629G>C (p.Met2543Ile)
c.6987G>C (p.Met2329Ile)
c.6918G>C (p.Met2306Ile)
c.1704G>C (p.Met568Ile)
c.7554G>C (p.Met2518Ile)
c.7365G>C (p.Met2455Ile)
c.5769G>C (p.Met1923Ile)
n.7905G>C
6g.51867967C>TCA364418615PKHD1c.7629G>A (p.Met2543Ile)
c.6987G>A (p.Met2329Ile)
c.6918G>A (p.Met2306Ile)
c.1704G>A (p.Met568Ile)
c.7554G>A (p.Met2518Ile)
c.7365G>A (p.Met2455Ile)
c.5769G>A (p.Met1923Ile)
n.7905G>A
6g.51867968A=CA1628583031PKHD1c.7628T= (p.Met2543=)
c.6986T= (p.Met2329=)
c.6917T= (p.Met2306=)
c.1703T= (p.Met568=)
c.7553T= (p.Met2518=)
c.7364T= (p.Met2455=)
c.5768T= (p.Met1923=)
n.7904T=
6g.51867968A>CCA364418620PKHD1c.7628T>G (p.Met2543Arg)
c.6986T>G (p.Met2329Arg)
c.6917T>G (p.Met2306Arg)
c.1703T>G (p.Met568Arg)
c.7553T>G (p.Met2518Arg)
c.7364T>G (p.Met2455Arg)
c.5768T>G (p.Met1923Arg)
n.7904T>G
6g.51867968A>GCA364418622PKHD1c.7628T>C (p.Met2543Thr)
c.6986T>C (p.Met2329Thr)
c.6917T>C (p.Met2306Thr)
c.1703T>C (p.Met568Thr)
c.7553T>C (p.Met2518Thr)
c.7364T>C (p.Met2455Thr)
c.5768T>C (p.Met1923Thr)
n.7904T>C
 dbSNP gnomAD v3 gnomAD v4
6g.51867968A>TCA364418625PKHD1c.7628T>A (p.Met2543Lys)
c.6986T>A (p.Met2329Lys)
c.6917T>A (p.Met2306Lys)
c.1703T>A (p.Met568Lys)
c.7553T>A (p.Met2518Lys)
c.7364T>A (p.Met2455Lys)
c.5768T>A (p.Met1923Lys)
n.7904T>A
6g.51867969_51867970delCA2578645042PKHD1c.7627_7628del (p.Met2543GlyfsTer?)
c.6985_6986del (p.Met2329GlyfsTer?)
c.6916_6917del (p.Met2306GlyfsTer?)
c.1702_1703del (p.Met568GlyfsTer?)
c.7552_7553del (p.Met2518GlyfsTer?)
c.7363_7364del (p.Met2455GlyfsTer?)
c.5767_5768del (p.Met1923GlyfsTer?)
n.7903_7904del
6g.51867969T>ACA364418630PKHD1c.7627A>T (p.Met2543Leu)
c.6985A>T (p.Met2329Leu)
c.6916A>T (p.Met2306Leu)
c.1702A>T (p.Met568Leu)
c.7552A>T (p.Met2518Leu)
c.7363A>T (p.Met2455Leu)
c.5767A>T (p.Met1923Leu)
n.7903A>T
6g.51867969T>CCA3851886PKHD1c.7627A>G (p.Met2543Val)
c.6985A>G (p.Met2329Val)
c.6916A>G (p.Met2306Val)
c.1702A>G (p.Met568Val)
c.7552A>G (p.Met2518Val)
c.7363A>G (p.Met2455Val)
c.5767A>G (p.Met1923Val)
n.7903A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51867969T>GCA364418627PKHD1c.7627A>C (p.Met2543Leu)
c.6985A>C (p.Met2329Leu)
c.6916A>C (p.Met2306Leu)
c.1702A>C (p.Met568Leu)
c.7552A>C (p.Met2518Leu)
c.7363A>C (p.Met2455Leu)
c.5767A>C (p.Met1923Leu)
n.7903A>C
6g.51867969T=CA1628583034PKHD1c.7627A= (p.Met2543=)
c.6985A= (p.Met2329=)
c.6916A= (p.Met2306=)
c.1702A= (p.Met568=)
c.7552A= (p.Met2518=)
c.7363A= (p.Met2455=)
c.5767A= (p.Met1923=)
n.7903A=
6g.51867970A=CA1628583036PKHD1c.7626T= (p.Ser2542=)
c.6984T= (p.Ser2328=)
c.6915T= (p.Ser2305=)
c.1701T= (p.Ser567=)
c.7551T= (p.Ser2517=)
c.7362T= (p.Ser2454=)
c.5766T= (p.Ser1922=)
n.7902T=
6g.51867970A>CCA450614168PKHD1c.7626T>G (p.Ser2542=)
c.6984T>G (p.Ser2328=)
c.6915T>G (p.Ser2305=)
c.1701T>G (p.Ser567=)
c.7551T>G (p.Ser2517=)
c.7362T>G (p.Ser2454=)
c.5766T>G (p.Ser1922=)
n.7902T>G
6g.51867970A>GCA3851887PKHD1c.7626T>C (p.Ser2542=)
c.6984T>C (p.Ser2328=)
c.6915T>C (p.Ser2305=)
c.1701T>C (p.Ser567=)
c.7551T>C (p.Ser2517=)
c.7362T>C (p.Ser2454=)
c.5766T>C (p.Ser1922=)
n.7902T>C
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
6g.51867970A>TCA450614167PKHD1c.7626T>A (p.Ser2542=)
c.6984T>A (p.Ser2328=)
c.6915T>A (p.Ser2305=)
c.1701T>A (p.Ser567=)
c.7551T>A (p.Ser2517=)
c.7362T>A (p.Ser2454=)
c.5766T>A (p.Ser1922=)
n.7902T>A
6g.51867971G>ACA364418636PKHD1c.7625C>T (p.Ser2542Phe)
c.6983C>T (p.Ser2328Phe)
c.6914C>T (p.Ser2305Phe)
c.1700C>T (p.Ser567Phe)
c.7550C>T (p.Ser2517Phe)
c.7361C>T (p.Ser2454Phe)
c.5765C>T (p.Ser1922Phe)
n.7901C>T
6g.51867971G>CCA364418639PKHD1c.7625C>G (p.Ser2542Cys)
c.6983C>G (p.Ser2328Cys)
c.6914C>G (p.Ser2305Cys)
c.1700C>G (p.Ser567Cys)
c.7550C>G (p.Ser2517Cys)
c.7361C>G (p.Ser2454Cys)
c.5765C>G (p.Ser1922Cys)
n.7901C>G
6g.51867971G>TCA364418641PKHD1c.7625C>A (p.Ser2542Tyr)
c.6983C>A (p.Ser2328Tyr)
c.6914C>A (p.Ser2305Tyr)
c.1700C>A (p.Ser567Tyr)
c.7550C>A (p.Ser2517Tyr)
c.7361C>A (p.Ser2454Tyr)
c.5765C>A (p.Ser1922Tyr)
n.7901C>A
6g.51867972A=CA1628583041PKHD1c.7624T= (p.Ser2542=)
c.6982T= (p.Ser2328=)
c.6913T= (p.Ser2305=)
c.1699T= (p.Ser567=)
c.7549T= (p.Ser2517=)
c.7360T= (p.Ser2454=)
c.5764T= (p.Ser1922=)
n.7900T=
6g.51867972A>CCA364418644PKHD1c.7624T>G (p.Ser2542Ala)
c.6982T>G (p.Ser2328Ala)
c.6913T>G (p.Ser2305Ala)
c.1699T>G (p.Ser567Ala)
c.7549T>G (p.Ser2517Ala)
c.7360T>G (p.Ser2454Ala)
c.5764T>G (p.Ser1922Ala)
n.7900T>G
 gnomAD v4
6g.51867972A>GCA364418647PKHD1c.7624T>C (p.Ser2542Pro)
c.6982T>C (p.Ser2328Pro)
c.6913T>C (p.Ser2305Pro)
c.1699T>C (p.Ser567Pro)
c.7549T>C (p.Ser2517Pro)
c.7360T>C (p.Ser2454Pro)
c.5764T>C (p.Ser1922Pro)
n.7900T>C
6g.51867972A>TCA138891422PKHD1c.7624T>A (p.Ser2542Thr)
c.6982T>A (p.Ser2328Thr)
c.6913T>A (p.Ser2305Thr)
c.1699T>A (p.Ser567Thr)
c.7549T>A (p.Ser2517Thr)
c.7360T>A (p.Ser2454Thr)
c.5764T>A (p.Ser1922Thr)
n.7900T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51867973A>CCA450614173PKHD1c.7623T>G (p.Ala2541=)
c.6981T>G (p.Ala2327=)
c.6912T>G (p.Ala2304=)
c.1698T>G (p.Ala566=)
c.7548T>G (p.Ala2516=)
c.7359T>G (p.Ala2453=)
c.5763T>G (p.Ala1921=)
n.7899T>G
6g.51867973A>GCA450614176PKHD1c.7623T>C (p.Ala2541=)
c.6981T>C (p.Ala2327=)
c.6912T>C (p.Ala2304=)
c.1698T>C (p.Ala566=)
c.7548T>C (p.Ala2516=)
c.7359T>C (p.Ala2453=)
c.5763T>C (p.Ala1921=)
n.7899T>C
 ClinVar
6g.51867973A>TCA450614174PKHD1c.7623T>A (p.Ala2541=)
c.6981T>A (p.Ala2327=)
c.6912T>A (p.Ala2304=)
c.1698T>A (p.Ala566=)
c.7548T>A (p.Ala2516=)
c.7359T>A (p.Ala2453=)
c.5763T>A (p.Ala1921=)
n.7899T>A
6g.51867974G>ACA364418652PKHD1c.7622C>T (p.Ala2541Val)
c.6980C>T (p.Ala2327Val)
c.6911C>T (p.Ala2304Val)
c.1697C>T (p.Ala566Val)
c.7547C>T (p.Ala2516Val)
c.7358C>T (p.Ala2453Val)
c.5762C>T (p.Ala1921Val)
n.7898C>T
6g.51867974G>CCA364418655PKHD1c.7622C>G (p.Ala2541Gly)
c.6980C>G (p.Ala2327Gly)
c.6911C>G (p.Ala2304Gly)
c.1697C>G (p.Ala566Gly)
c.7547C>G (p.Ala2516Gly)
c.7358C>G (p.Ala2453Gly)
c.5762C>G (p.Ala1921Gly)
n.7898C>G
6g.51867974G>TCA364418658PKHD1c.7622C>A (p.Ala2541Asp)
c.6980C>A (p.Ala2327Asp)
c.6911C>A (p.Ala2304Asp)
c.1697C>A (p.Ala566Asp)
c.7547C>A (p.Ala2516Asp)
c.7358C>A (p.Ala2453Asp)
c.5762C>A (p.Ala1921Asp)
n.7898C>A
 gnomAD v4
6g.51867975C>ACA364418660PKHD1c.7621G>T (p.Ala2541Ser)
c.6979G>T (p.Ala2327Ser)
c.6910G>T (p.Ala2304Ser)
c.1696G>T (p.Ala566Ser)
c.7546G>T (p.Ala2516Ser)
c.7357G>T (p.Ala2453Ser)
c.5761G>T (p.Ala1921Ser)
n.7897G>T
6g.51867975C>GCA364418663PKHD1c.7621G>C (p.Ala2541Pro)
c.6979G>C (p.Ala2327Pro)
c.6910G>C (p.Ala2304Pro)
c.1696G>C (p.Ala566Pro)
c.7546G>C (p.Ala2516Pro)
c.7357G>C (p.Ala2453Pro)
c.5761G>C (p.Ala1921Pro)
n.7897G>C
6g.51867975C>TCA364418665PKHD1c.7621G>A (p.Ala2541Thr)
c.6979G>A (p.Ala2327Thr)
c.6910G>A (p.Ala2304Thr)
c.1696G>A (p.Ala566Thr)
c.7546G>A (p.Ala2516Thr)
c.7357G>A (p.Ala2453Thr)
c.5761G>A (p.Ala1921Thr)
n.7897G>A
6g.51867976A=CA1628583044PKHD1c.7620T= (p.Leu2540=)
c.6978T= (p.Leu2326=)
c.6909T= (p.Leu2303=)
c.1695T= (p.Leu565=)
c.7545T= (p.Leu2515=)
c.7356T= (p.Leu2452=)
c.5760T= (p.Leu1920=)
n.7896T=
6g.51867976A>CCA450614179PKHD1c.7620T>G (p.Leu2540=)
c.6978T>G (p.Leu2326=)
c.6909T>G (p.Leu2303=)
c.1695T>G (p.Leu565=)
c.7545T>G (p.Leu2515=)
c.7356T>G (p.Leu2452=)
c.5760T>G (p.Leu1920=)
n.7896T>G
6g.51867976A>GCA450614180PKHD1c.7620T>C (p.Leu2540=)
c.6978T>C (p.Leu2326=)
c.6909T>C (p.Leu2303=)
c.1695T>C (p.Leu565=)
c.7545T>C (p.Leu2515=)
c.7356T>C (p.Leu2452=)
c.5760T>C (p.Leu1920=)
n.7896T>C
 ClinVar dbSNP gnomAD v4
6g.51867976A>TCA450614183PKHD1c.7620T>A (p.Leu2540=)
c.6978T>A (p.Leu2326=)
c.6909T>A (p.Leu2303=)
c.1695T>A (p.Leu565=)
c.7545T>A (p.Leu2515=)
c.7356T>A (p.Leu2452=)
c.5760T>A (p.Leu1920=)
n.7896T>A
6g.51867977A=CA1628583047PKHD1c.7619T= (p.Leu2540=)
c.6977T= (p.Leu2326=)
c.6908T= (p.Leu2303=)
c.1694T= (p.Leu565=)
c.7544T= (p.Leu2515=)
c.7355T= (p.Leu2452=)
c.5759T= (p.Leu1920=)
n.7895T=
6g.51867977A>CCA364418674PKHD1c.7619T>G (p.Leu2540Arg)
c.6977T>G (p.Leu2326Arg)
c.6908T>G (p.Leu2303Arg)
c.1694T>G (p.Leu565Arg)
c.7544T>G (p.Leu2515Arg)
c.7355T>G (p.Leu2452Arg)
c.5759T>G (p.Leu1920Arg)
n.7895T>G
6g.51867977A>GCA3851888PKHD1c.7619T>C (p.Leu2540Pro)
c.6977T>C (p.Leu2326Pro)
c.6908T>C (p.Leu2303Pro)
c.1694T>C (p.Leu565Pro)
c.7544T>C (p.Leu2515Pro)
c.7355T>C (p.Leu2452Pro)
c.5759T>C (p.Leu1920Pro)
n.7895T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51867977A>TCA364418670PKHD1c.7619T>A (p.Leu2540His)
c.6977T>A (p.Leu2326His)
c.6908T>A (p.Leu2303His)
c.1694T>A (p.Leu565His)
c.7544T>A (p.Leu2515His)
c.7355T>A (p.Leu2452His)
c.5759T>A (p.Leu1920His)
n.7895T>A
6g.51867978G>ACA364418678PKHD1c.7618C>T (p.Leu2540Phe)
c.6976C>T (p.Leu2326Phe)
c.6907C>T (p.Leu2303Phe)
c.1693C>T (p.Leu565Phe)
c.7543C>T (p.Leu2515Phe)
c.7354C>T (p.Leu2452Phe)
c.5758C>T (p.Leu1920Phe)
n.7894C>T
 dbSNP gnomAD v2 gnomAD v4
6g.51867978G>CCA364418680PKHD1c.7618C>G (p.Leu2540Val)
c.6976C>G (p.Leu2326Val)
c.6907C>G (p.Leu2303Val)
c.1693C>G (p.Leu565Val)
c.7543C>G (p.Leu2515Val)
c.7354C>G (p.Leu2452Val)
c.5758C>G (p.Leu1920Val)
n.7894C>G
6g.51867978G=CA1628583054PKHD1c.7618C= (p.Leu2540=)
c.6976C= (p.Leu2326=)
c.6907C= (p.Leu2303=)
c.1693C= (p.Leu565=)
c.7543C= (p.Leu2515=)
c.7354C= (p.Leu2452=)
c.5758C= (p.Leu1920=)
n.7894C=
6g.51867978G>TCA364418681PKHD1c.7618C>A (p.Leu2540Ile)
c.6976C>A (p.Leu2326Ile)
c.6907C>A (p.Leu2303Ile)
c.1693C>A (p.Leu565Ile)
c.7543C>A (p.Leu2515Ile)
c.7354C>A (p.Leu2452Ile)
c.5758C>A (p.Leu1920Ile)
n.7894C>A
 gnomAD v4
6g.51867979A>CCA364418685PKHD1c.7617T>G (p.Ile2539Met)
c.6975T>G (p.Ile2325Met)
c.6906T>G (p.Ile2302Met)
c.1692T>G (p.Ile564Met)
c.7542T>G (p.Ile2514Met)
c.7353T>G (p.Ile2451Met)
c.5757T>G (p.Ile1919Met)
n.7893T>G
6g.51867979A>GCA450614186PKHD1c.7617T>C (p.Ile2539=)
c.6975T>C (p.Ile2325=)
c.6906T>C (p.Ile2302=)
c.1692T>C (p.Ile564=)
c.7542T>C (p.Ile2514=)
c.7353T>C (p.Ile2451=)
c.5757T>C (p.Ile1919=)
n.7893T>C
6g.51867979A>TCA450614187PKHD1c.7617T>A (p.Ile2539=)
c.6975T>A (p.Ile2325=)
c.6906T>A (p.Ile2302=)
c.1692T>A (p.Ile564=)
c.7542T>A (p.Ile2514=)
c.7353T>A (p.Ile2451=)
c.5757T>A (p.Ile1919=)
n.7893T>A
6g.51867980A>CCA364418688PKHD1c.7616T>G (p.Ile2539Ser)
c.6974T>G (p.Ile2325Ser)
c.6905T>G (p.Ile2302Ser)
c.1691T>G (p.Ile564Ser)
c.7541T>G (p.Ile2514Ser)
c.7352T>G (p.Ile2451Ser)
c.5756T>G (p.Ile1919Ser)
n.7892T>G
6g.51867980A>GCA364418690PKHD1c.7616T>C (p.Ile2539Thr)
c.6974T>C (p.Ile2325Thr)
c.6905T>C (p.Ile2302Thr)
c.1691T>C (p.Ile564Thr)
c.7541T>C (p.Ile2514Thr)
c.7352T>C (p.Ile2451Thr)
c.5756T>C (p.Ile1919Thr)
n.7892T>C
 COSMIC COSMIC
6g.51867980A>TCA364418693PKHD1c.7616T>A (p.Ile2539Asn)
c.6974T>A (p.Ile2325Asn)
c.6905T>A (p.Ile2302Asn)
c.1691T>A (p.Ile564Asn)
c.7541T>A (p.Ile2514Asn)
c.7352T>A (p.Ile2451Asn)
c.5756T>A (p.Ile1919Asn)
n.7892T>A
6g.51867981T>ACA364418696PKHD1c.7615A>T (p.Ile2539Phe)
c.6973A>T (p.Ile2325Phe)
c.6904A>T (p.Ile2302Phe)
c.1690A>T (p.Ile564Phe)
c.7540A>T (p.Ile2514Phe)
c.7351A>T (p.Ile2451Phe)
c.5755A>T (p.Ile1919Phe)
n.7891A>T
 COSMIC COSMIC
6g.51867981T>CCA364418698PKHD1c.7615A>G (p.Ile2539Val)
c.6973A>G (p.Ile2325Val)
c.6904A>G (p.Ile2302Val)
c.1690A>G (p.Ile564Val)
c.7540A>G (p.Ile2514Val)
c.7351A>G (p.Ile2451Val)
c.5755A>G (p.Ile1919Val)
n.7891A>G
 gnomAD v4
6g.51867981T>GCA364418702PKHD1c.7615A>C (p.Ile2539Leu)
c.6973A>C (p.Ile2325Leu)
c.6904A>C (p.Ile2302Leu)
c.1690A>C (p.Ile564Leu)
c.7540A>C (p.Ile2514Leu)
c.7351A>C (p.Ile2451Leu)
c.5755A>C (p.Ile1919Leu)
n.7891A>C
6g.51867982G>ACA450614190PKHD1c.7614C>T (p.His2538=)
c.6972C>T (p.His2324=)
c.6903C>T (p.His2301=)
c.1689C>T (p.His563=)
c.7539C>T (p.His2513=)
c.7350C>T (p.His2450=)
c.5754C>T (p.His1918=)
n.7890C>T
 ClinVar
6g.51867982G>CCA364418706PKHD1c.7614C>G (p.His2538Gln)
c.6972C>G (p.His2324Gln)
c.6903C>G (p.His2301Gln)
c.1689C>G (p.His563Gln)
c.7539C>G (p.His2513Gln)
c.7350C>G (p.His2450Gln)
c.5754C>G (p.His1918Gln)
n.7890C>G
6g.51867982G>TCA364418709PKHD1c.7614C>A (p.His2538Gln)
c.6972C>A (p.His2324Gln)
c.6903C>A (p.His2301Gln)
c.1689C>A (p.His563Gln)
c.7539C>A (p.His2513Gln)
c.7350C>A (p.His2450Gln)
c.5754C>A (p.His1918Gln)
n.7890C>A
 COSMIC COSMIC
6g.51867983T>ACA364418712PKHD1c.7613A>T (p.His2538Leu)
c.6971A>T (p.His2324Leu)
c.6902A>T (p.His2301Leu)
c.1688A>T (p.His563Leu)
c.7538A>T (p.His2513Leu)
c.7349A>T (p.His2450Leu)
c.5753A>T (p.His1918Leu)
n.7889A>T
6g.51867983T>CCA364418718PKHD1c.7613A>G (p.His2538Arg)
c.6971A>G (p.His2324Arg)
c.6902A>G (p.His2301Arg)
c.1688A>G (p.His563Arg)
c.7538A>G (p.His2513Arg)
c.7349A>G (p.His2450Arg)
c.5753A>G (p.His1918Arg)
n.7889A>G
6g.51867983T>GCA364418715PKHD1c.7613A>C (p.His2538Pro)
c.6971A>C (p.His2324Pro)
c.6902A>C (p.His2301Pro)
c.1688A>C (p.His563Pro)
c.7538A>C (p.His2513Pro)
c.7349A>C (p.His2450Pro)
c.5753A>C (p.His1918Pro)
n.7889A>C
6g.51867984G>ACA364418720PKHD1c.7612C>T (p.His2538Tyr)
c.6970C>T (p.His2324Tyr)
c.6901C>T (p.His2301Tyr)
c.1687C>T (p.His563Tyr)
c.7537C>T (p.His2513Tyr)
c.7348C>T (p.His2450Tyr)
c.5752C>T (p.His1918Tyr)
n.7888C>T
6g.51867984G>CCA364418726PKHD1c.7612C>G (p.His2538Asp)
c.6970C>G (p.His2324Asp)
c.6901C>G (p.His2301Asp)
c.1687C>G (p.His563Asp)
c.7537C>G (p.His2513Asp)
c.7348C>G (p.His2450Asp)
c.5752C>G (p.His1918Asp)
n.7888C>G
6g.51867984G>TCA364418723PKHD1c.7612C>A (p.His2538Asn)
c.6970C>A (p.His2324Asn)
c.6901C>A (p.His2301Asn)
c.1687C>A (p.His563Asn)
c.7537C>A (p.His2513Asn)
c.7348C>A (p.His2450Asn)
c.5752C>A (p.His1918Asn)
n.7888C>A
6g.51867985A>CCA364418734PKHD1c.7611T>G (p.Ser2537Arg)
c.6969T>G (p.Ser2323Arg)
c.6900T>G (p.Ser2300Arg)
c.1686T>G (p.Ser562Arg)
c.7536T>G (p.Ser2512Arg)
c.7347T>G (p.Ser2449Arg)
c.5751T>G (p.Ser1917Arg)
n.7887T>G
6g.51867985A>GCA450614197PKHD1c.7611T>C (p.Ser2537=)
c.6969T>C (p.Ser2323=)
c.6900T>C (p.Ser2300=)
c.1686T>C (p.Ser562=)
c.7536T>C (p.Ser2512=)
c.7347T>C (p.Ser2449=)
c.5751T>C (p.Ser1917=)
n.7887T>C
6g.51867985A>TCA364418736PKHD1c.7611T>A (p.Ser2537Arg)
c.6969T>A (p.Ser2323Arg)
c.6900T>A (p.Ser2300Arg)
c.1686T>A (p.Ser562Arg)
c.7536T>A (p.Ser2512Arg)
c.7347T>A (p.Ser2449Arg)
c.5751T>A (p.Ser1917Arg)
n.7887T>A
6g.51867986C>ACA364418738PKHD1c.7610G>T (p.Ser2537Ile)
c.6968G>T (p.Ser2323Ile)
c.6899G>T (p.Ser2300Ile)
c.1685G>T (p.Ser562Ile)
c.7535G>T (p.Ser2512Ile)
c.7346G>T (p.Ser2449Ile)
c.5750G>T (p.Ser1917Ile)
n.7886G>T
6g.51867986C=CA1628583057PKHD1c.7610G= (p.Ser2537=)
c.6968G= (p.Ser2323=)
c.6899G= (p.Ser2300=)
c.1685G= (p.Ser562=)
c.7535G= (p.Ser2512=)
c.7346G= (p.Ser2449=)
c.5750G= (p.Ser1917=)
n.7886G=
6g.51867986C>GCA364418741PKHD1c.7610G>C (p.Ser2537Thr)
c.6968G>C (p.Ser2323Thr)
c.6899G>C (p.Ser2300Thr)
c.1685G>C (p.Ser562Thr)
c.7535G>C (p.Ser2512Thr)
c.7346G>C (p.Ser2449Thr)
c.5750G>C (p.Ser1917Thr)
n.7886G>C
6g.51867986C>TCA3851889PKHD1c.7610G>A (p.Ser2537Asn)
c.6968G>A (p.Ser2323Asn)
c.6899G>A (p.Ser2300Asn)
c.1685G>A (p.Ser562Asn)
c.7535G>A (p.Ser2512Asn)
c.7346G>A (p.Ser2449Asn)
c.5750G>A (p.Ser1917Asn)
n.7886G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51867987T>ACA364418746PKHD1c.7609A>T (p.Ser2537Cys)
c.6967A>T (p.Ser2323Cys)
c.6898A>T (p.Ser2300Cys)
c.1684A>T (p.Ser562Cys)
c.7534A>T (p.Ser2512Cys)
c.7345A>T (p.Ser2449Cys)
c.5749A>T (p.Ser1917Cys)
n.7885A>T
6g.51867987T>CCA364418748PKHD1c.7609A>G (p.Ser2537Gly)
c.6967A>G (p.Ser2323Gly)
c.6898A>G (p.Ser2300Gly)
c.1684A>G (p.Ser562Gly)
c.7534A>G (p.Ser2512Gly)
c.7345A>G (p.Ser2449Gly)
c.5749A>G (p.Ser1917Gly)
n.7885A>G
6g.51867987T>GCA364418750PKHD1c.7609A>C (p.Ser2537Arg)
c.6967A>C (p.Ser2323Arg)
c.6898A>C (p.Ser2300Arg)
c.1684A>C (p.Ser562Arg)
c.7534A>C (p.Ser2512Arg)
c.7345A>C (p.Ser2449Arg)
c.5749A>C (p.Ser1917Arg)
n.7885A>C
6g.51867988T>ACA364418753PKHD1c.7608A>T (p.Arg2536Ser)
c.6966A>T (p.Arg2322Ser)
c.6897A>T (p.Arg2299Ser)
c.1683A>T (p.Arg561Ser)
c.7533A>T (p.Arg2511Ser)
c.7344A>T (p.Arg2448Ser)
c.5748A>T (p.Arg1916Ser)
n.7884A>T
6g.51867988T>CCA450614204PKHD1c.7608A>G (p.Arg2536=)
c.6966A>G (p.Arg2322=)
c.6897A>G (p.Arg2299=)
c.1683A>G (p.Arg561=)
c.7533A>G (p.Arg2511=)
c.7344A>G (p.Arg2448=)
c.5748A>G (p.Arg1916=)
n.7884A>G
6g.51867988T>GCA364418754PKHD1c.7608A>C (p.Arg2536Ser)
c.6966A>C (p.Arg2322Ser)
c.6897A>C (p.Arg2299Ser)
c.1683A>C (p.Arg561Ser)
c.7533A>C (p.Arg2511Ser)
c.7344A>C (p.Arg2448Ser)
c.5748A>C (p.Arg1916Ser)
n.7884A>C
6g.51867988_51867989insGGATGGGTCTCA2580075477PKHD1c.7608_7609insGACCCATCCA (p.Ser2537AspfsTer?)
c.6966_6967insGACCCATCCA (p.Ser2323AspfsTer?)
c.6897_6898insGACCCATCCA (p.Ser2300AspfsTer?)
c.1683_1684insGACCCATCCA (p.Ser562AspfsTer?)
c.7533_7534insGACCCATCCA (p.Ser2512AspfsTer?)
c.7344_7345insGACCCATCCA (p.Ser2449AspfsTer?)
c.5748_5749insGACCCATCCA (p.Ser1917AspfsTer?)
n.7884_7885insGACCCATCCA
 ClinVar

Number of alleles fetched