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.51867887delCA16041040PKHD1c.7713del (p.His2572IlefsTer7)
c.7071del (p.His2358IlefsTer7)
c.7002del (p.His2335IlefsTer7)
c.1788del (p.His597IlefsTer7)
c.7638del (p.His2547IlefsTer7)
c.7449del (p.His2484IlefsTer7)
c.5853del (p.His1952IlefsTer7)
n.7989del
 ClinVar dbSNP gnomAD v4
6g.51867887A>CCA364418188PKHD1c.7709T>G (p.Leu2570Arg)
c.7067T>G (p.Leu2356Arg)
c.6998T>G (p.Leu2333Arg)
c.1784T>G (p.Leu595Arg)
c.7634T>G (p.Leu2545Arg)
c.7445T>G (p.Leu2482Arg)
c.5849T>G (p.Leu1950Arg)
n.7985T>G
6g.51867887A>GCA364418190PKHD1c.7709T>C (p.Leu2570Pro)
c.7067T>C (p.Leu2356Pro)
c.6998T>C (p.Leu2333Pro)
c.1784T>C (p.Leu595Pro)
c.7634T>C (p.Leu2545Pro)
c.7445T>C (p.Leu2482Pro)
c.5849T>C (p.Leu1950Pro)
n.7985T>C
6g.51867887A>TCA364418192PKHD1c.7709T>A (p.Leu2570His)
c.7067T>A (p.Leu2356His)
c.6998T>A (p.Leu2333His)
c.1784T>A (p.Leu595His)
c.7634T>A (p.Leu2545His)
c.7445T>A (p.Leu2482His)
c.5849T>A (p.Leu1950His)
n.7985T>A
 gnomAD v4 COSMIC COSMIC
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

Number of alleles fetched