Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.51747898G>ACA16041031PKHD1c.9718C>T (p.Arg3240Ter)
c.9589C>T (p.Arg3197Ter)
c.9580C>T (p.Arg3194Ter)
c.9076C>T (p.Arg3026Ter)
c.9007C>T (p.Arg3003Ter)
c.3793C>T (p.Arg1265Ter)
c.9643C>T (p.Arg3215Ter)
c.9523C>T (p.Arg3175Ter)
c.9454C>T (p.Arg3152Ter)
c.7858C>T (p.Arg2620Ter)
n.9994C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.51747898G>CCA364420435PKHD1c.9718C>G (p.Arg3240Gly)
c.9589C>G (p.Arg3197Gly)
c.9580C>G (p.Arg3194Gly)
c.9076C>G (p.Arg3026Gly)
c.9007C>G (p.Arg3003Gly)
c.3793C>G (p.Arg1265Gly)
c.9643C>G (p.Arg3215Gly)
c.9523C>G (p.Arg3175Gly)
c.9454C>G (p.Arg3152Gly)
c.7858C>G (p.Arg2620Gly)
n.9994C>G
 gnomAD v4
6g.51747898G=CA1628502035PKHD1c.9718C= (p.Arg3240=)
c.9589C= (p.Arg3197=)
c.9580C= (p.Arg3194=)
c.9076C= (p.Arg3026=)
c.9007C= (p.Arg3003=)
c.3793C= (p.Arg1265=)
c.9643C= (p.Arg3215=)
c.9523C= (p.Arg3175=)
c.9454C= (p.Arg3152=)
c.7858C= (p.Arg2620=)
n.9994C=
6g.51747898G>TCA450613528PKHD1c.9718C>A (p.Arg3240=)
c.9589C>A (p.Arg3197=)
c.9580C>A (p.Arg3194=)
c.9076C>A (p.Arg3026=)
c.9007C>A (p.Arg3003=)
c.3793C>A (p.Arg1265=)
c.9643C>A (p.Arg3215=)
c.9523C>A (p.Arg3175=)
c.9454C>A (p.Arg3152=)
c.7858C>A (p.Arg2620=)
n.9994C>A
6g.51747899A>CCA450613533PKHD1c.9717T>G (p.Gly3239=)
c.9588T>G (p.Gly3196=)
c.9579T>G (p.Gly3193=)
c.9075T>G (p.Gly3025=)
c.9006T>G (p.Gly3002=)
c.3792T>G (p.Gly1264=)
c.9642T>G (p.Gly3214=)
c.9522T>G (p.Gly3174=)
c.9453T>G (p.Gly3151=)
c.7857T>G (p.Gly2619=)
n.9993T>G
6g.51747899A>GCA450613535PKHD1c.9717T>C (p.Gly3239=)
c.9588T>C (p.Gly3196=)
c.9579T>C (p.Gly3193=)
c.9075T>C (p.Gly3025=)
c.9006T>C (p.Gly3002=)
c.3792T>C (p.Gly1264=)
c.9642T>C (p.Gly3214=)
c.9522T>C (p.Gly3174=)
c.9453T>C (p.Gly3151=)
c.7857T>C (p.Gly2619=)
n.9993T>C
6g.51747899A>TCA450613534PKHD1c.9717T>A (p.Gly3239=)
c.9588T>A (p.Gly3196=)
c.9579T>A (p.Gly3193=)
c.9075T>A (p.Gly3025=)
c.9006T>A (p.Gly3002=)
c.3792T>A (p.Gly1264=)
c.9642T>A (p.Gly3214=)
c.9522T>A (p.Gly3174=)
c.9453T>A (p.Gly3151=)
c.7857T>A (p.Gly2619=)
n.9993T>A
6g.51747900C>ACA364420437PKHD1c.9716G>T (p.Gly3239Val)
c.9587G>T (p.Gly3196Val)
c.9578G>T (p.Gly3193Val)
c.9074G>T (p.Gly3025Val)
c.9005G>T (p.Gly3002Val)
c.3791G>T (p.Gly1264Val)
c.9641G>T (p.Gly3214Val)
c.9521G>T (p.Gly3174Val)
c.9452G>T (p.Gly3151Val)
c.7856G>T (p.Gly2619Val)
n.9992G>T
6g.51747900C>GCA364420439PKHD1c.9716G>C (p.Gly3239Ala)
c.9587G>C (p.Gly3196Ala)
c.9578G>C (p.Gly3193Ala)
c.9074G>C (p.Gly3025Ala)
c.9005G>C (p.Gly3002Ala)
c.3791G>C (p.Gly1264Ala)
c.9641G>C (p.Gly3214Ala)
c.9521G>C (p.Gly3174Ala)
c.9452G>C (p.Gly3151Ala)
c.7856G>C (p.Gly2619Ala)
n.9992G>C
6g.51747900C>TCA364420441PKHD1c.9716G>A (p.Gly3239Asp)
c.9587G>A (p.Gly3196Asp)
c.9578G>A (p.Gly3193Asp)
c.9074G>A (p.Gly3025Asp)
c.9005G>A (p.Gly3002Asp)
c.3791G>A (p.Gly1264Asp)
c.9641G>A (p.Gly3214Asp)
c.9521G>A (p.Gly3174Asp)
c.9452G>A (p.Gly3151Asp)
c.7856G>A (p.Gly2619Asp)
n.9992G>A
6g.51747901C>ACA364420444PKHD1c.9715G>T (p.Gly3239Cys)
c.9586G>T (p.Gly3196Cys)
c.9577G>T (p.Gly3193Cys)
c.9073G>T (p.Gly3025Cys)
c.9004G>T (p.Gly3002Cys)
c.3790G>T (p.Gly1264Cys)
c.9640G>T (p.Gly3214Cys)
c.9520G>T (p.Gly3174Cys)
c.9451G>T (p.Gly3151Cys)
c.7855G>T (p.Gly2619Cys)
n.9991G>T
6g.51747901C=CA1628502044PKHD1c.9715G= (p.Gly3239=)
c.9586G= (p.Gly3196=)
c.9577G= (p.Gly3193=)
c.9073G= (p.Gly3025=)
c.9004G= (p.Gly3002=)
c.3790G= (p.Gly1264=)
c.9640G= (p.Gly3214=)
c.9520G= (p.Gly3174=)
c.9451G= (p.Gly3151=)
c.7855G= (p.Gly2619=)
n.9991G=
6g.51747901C>GCA364420446PKHD1c.9715G>C (p.Gly3239Arg)
c.9586G>C (p.Gly3196Arg)
c.9577G>C (p.Gly3193Arg)
c.9073G>C (p.Gly3025Arg)
c.9004G>C (p.Gly3002Arg)
c.3790G>C (p.Gly1264Arg)
c.9640G>C (p.Gly3214Arg)
c.9520G>C (p.Gly3174Arg)
c.9451G>C (p.Gly3151Arg)
c.7855G>C (p.Gly2619Arg)
n.9991G>C
6g.51747901C>TCA138895885PKHD1c.9715G>A (p.Gly3239Ser)
c.9586G>A (p.Gly3196Ser)
c.9577G>A (p.Gly3193Ser)
c.9073G>A (p.Gly3025Ser)
c.9004G>A (p.Gly3002Ser)
c.3790G>A (p.Gly1264Ser)
c.9640G>A (p.Gly3214Ser)
c.9520G>A (p.Gly3174Ser)
c.9451G>A (p.Gly3151Ser)
c.7855G>A (p.Gly2619Ser)
n.9991G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.51747902T>ACA450613544PKHD1c.9714A>T (p.Gly3238=)
c.9585A>T (p.Gly3195=)
c.9576A>T (p.Gly3192=)
c.9072A>T (p.Gly3024=)
c.9003A>T (p.Gly3001=)
c.3789A>T (p.Gly1263=)
c.9639A>T (p.Gly3213=)
c.9519A>T (p.Gly3173=)
c.9450A>T (p.Gly3150=)
c.7854A>T (p.Gly2618=)
n.9990A>T
6g.51747902T>CCA3851349PKHD1c.9714A>G (p.Gly3238=)
c.9585A>G (p.Gly3195=)
c.9576A>G (p.Gly3192=)
c.9072A>G (p.Gly3024=)
c.9003A>G (p.Gly3001=)
c.3789A>G (p.Gly1263=)
c.9639A>G (p.Gly3213=)
c.9519A>G (p.Gly3173=)
c.9450A>G (p.Gly3150=)
c.7854A>G (p.Gly2618=)
n.9990A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51747902T>GCA450613547PKHD1c.9714A>C (p.Gly3238=)
c.9585A>C (p.Gly3195=)
c.9576A>C (p.Gly3192=)
c.9072A>C (p.Gly3024=)
c.9003A>C (p.Gly3001=)
c.3789A>C (p.Gly1263=)
c.9639A>C (p.Gly3213=)
c.9519A>C (p.Gly3173=)
c.9450A>C (p.Gly3150=)
c.7854A>C (p.Gly2618=)
n.9990A>C
6g.51747902T=CA1628502053PKHD1c.9714A= (p.Gly3238=)
c.9585A= (p.Gly3195=)
c.9576A= (p.Gly3192=)
c.9072A= (p.Gly3024=)
c.9003A= (p.Gly3001=)
c.3789A= (p.Gly1263=)
c.9639A= (p.Gly3213=)
c.9519A= (p.Gly3173=)
c.9450A= (p.Gly3150=)
c.7854A= (p.Gly2618=)
n.9990A=
6g.51747903C>ACA364420450PKHD1c.9713G>T (p.Gly3238Val)
c.9584G>T (p.Gly3195Val)
c.9575G>T (p.Gly3192Val)
c.9071G>T (p.Gly3024Val)
c.9002G>T (p.Gly3001Val)
c.3788G>T (p.Gly1263Val)
c.9638G>T (p.Gly3213Val)
c.9518G>T (p.Gly3173Val)
c.9449G>T (p.Gly3150Val)
c.7853G>T (p.Gly2618Val)
n.9989G>T
6g.51747903C=CA1628502058PKHD1c.9713G= (p.Gly3238=)
c.9584G= (p.Gly3195=)
c.9575G= (p.Gly3192=)
c.9071G= (p.Gly3024=)
c.9002G= (p.Gly3001=)
c.3788G= (p.Gly1263=)
c.9638G= (p.Gly3213=)
c.9518G= (p.Gly3173=)
c.9449G= (p.Gly3150=)
c.7853G= (p.Gly2618=)
n.9989G=
6g.51747903C>GCA364420452PKHD1c.9713G>C (p.Gly3238Ala)
c.9584G>C (p.Gly3195Ala)
c.9575G>C (p.Gly3192Ala)
c.9071G>C (p.Gly3024Ala)
c.9002G>C (p.Gly3001Ala)
c.3788G>C (p.Gly1263Ala)
c.9638G>C (p.Gly3213Ala)
c.9518G>C (p.Gly3173Ala)
c.9449G>C (p.Gly3150Ala)
c.7853G>C (p.Gly2618Ala)
n.9989G>C
6g.51747903C>TCA364420454PKHD1c.9713G>A (p.Gly3238Glu)
c.9584G>A (p.Gly3195Glu)
c.9575G>A (p.Gly3192Glu)
c.9071G>A (p.Gly3024Glu)
c.9002G>A (p.Gly3001Glu)
c.3788G>A (p.Gly1263Glu)
c.9638G>A (p.Gly3213Glu)
c.9518G>A (p.Gly3173Glu)
c.9449G>A (p.Gly3150Glu)
c.7853G>A (p.Gly2618Glu)
n.9989G>A
 dbSNP
6g.51747904C>ACA364420456PKHD1c.9712G>T (p.Gly3238Ter)
c.9583G>T (p.Gly3195Ter)
c.9574G>T (p.Gly3192Ter)
c.9070G>T (p.Gly3024Ter)
c.9001G>T (p.Gly3001Ter)
c.3787G>T (p.Gly1263Ter)
c.9637G>T (p.Gly3213Ter)
c.9517G>T (p.Gly3173Ter)
c.9448G>T (p.Gly3150Ter)
c.7852G>T (p.Gly2618Ter)
n.9988G>T
6g.51747904C>GCA364420460PKHD1c.9712G>C (p.Gly3238Arg)
c.9583G>C (p.Gly3195Arg)
c.9574G>C (p.Gly3192Arg)
c.9070G>C (p.Gly3024Arg)
c.9001G>C (p.Gly3001Arg)
c.3787G>C (p.Gly1263Arg)
c.9637G>C (p.Gly3213Arg)
c.9517G>C (p.Gly3173Arg)
c.9448G>C (p.Gly3150Arg)
c.7852G>C (p.Gly2618Arg)
n.9988G>C
6g.51747904C>TCA364420458PKHD1c.9712G>A (p.Gly3238Arg)
c.9583G>A (p.Gly3195Arg)
c.9574G>A (p.Gly3192Arg)
c.9070G>A (p.Gly3024Arg)
c.9001G>A (p.Gly3001Arg)
c.3787G>A (p.Gly1263Arg)
c.9637G>A (p.Gly3213Arg)
c.9517G>A (p.Gly3173Arg)
c.9448G>A (p.Gly3150Arg)
c.7852G>A (p.Gly2618Arg)
n.9988G>A
6g.51747905T>ACA364420462PKHD1c.9711A>T (p.Arg3237Ser)
c.9582A>T (p.Arg3194Ser)
c.9573A>T (p.Arg3191Ser)
c.9069A>T (p.Arg3023Ser)
c.9000A>T (p.Arg3000Ser)
c.3786A>T (p.Arg1262Ser)
c.9636A>T (p.Arg3212Ser)
c.9516A>T (p.Arg3172Ser)
c.9447A>T (p.Arg3149Ser)
c.7851A>T (p.Arg2617Ser)
n.9987A>T
6g.51747905T>CCA450613550PKHD1c.9711A>G (p.Arg3237=)
c.9582A>G (p.Arg3194=)
c.9573A>G (p.Arg3191=)
c.9069A>G (p.Arg3023=)
c.9000A>G (p.Arg3000=)
c.3786A>G (p.Arg1262=)
c.9636A>G (p.Arg3212=)
c.9516A>G (p.Arg3172=)
c.9447A>G (p.Arg3149=)
c.7851A>G (p.Arg2617=)
n.9987A>G
 ClinVar dbSNP
6g.51747905T>GCA364420464PKHD1c.9711A>C (p.Arg3237Ser)
c.9582A>C (p.Arg3194Ser)
c.9573A>C (p.Arg3191Ser)
c.9069A>C (p.Arg3023Ser)
c.9000A>C (p.Arg3000Ser)
c.3786A>C (p.Arg1262Ser)
c.9636A>C (p.Arg3212Ser)
c.9516A>C (p.Arg3172Ser)
c.9447A>C (p.Arg3149Ser)
c.7851A>C (p.Arg2617Ser)
n.9987A>C
6g.51747906C>ACA364420466PKHD1c.9710G>T (p.Arg3237Ile)
c.9581G>T (p.Arg3194Ile)
c.9572G>T (p.Arg3191Ile)
c.9068G>T (p.Arg3023Ile)
c.8999G>T (p.Arg3000Ile)
c.3785G>T (p.Arg1262Ile)
c.9635G>T (p.Arg3212Ile)
c.9515G>T (p.Arg3172Ile)
c.9446G>T (p.Arg3149Ile)
c.7850G>T (p.Arg2617Ile)
n.9986G>T
 COSMIC COSMIC
6g.51747906C>GCA364420468PKHD1c.9710G>C (p.Arg3237Thr)
c.9581G>C (p.Arg3194Thr)
c.9572G>C (p.Arg3191Thr)
c.9068G>C (p.Arg3023Thr)
c.8999G>C (p.Arg3000Thr)
c.3785G>C (p.Arg1262Thr)
c.9635G>C (p.Arg3212Thr)
c.9515G>C (p.Arg3172Thr)
c.9446G>C (p.Arg3149Thr)
c.7850G>C (p.Arg2617Thr)
n.9986G>C
6g.51747906C>TCA364420470PKHD1c.9710G>A (p.Arg3237Lys)
c.9581G>A (p.Arg3194Lys)
c.9572G>A (p.Arg3191Lys)
c.9068G>A (p.Arg3023Lys)
c.8999G>A (p.Arg3000Lys)
c.3785G>A (p.Arg1262Lys)
c.9635G>A (p.Arg3212Lys)
c.9515G>A (p.Arg3172Lys)
c.9446G>A (p.Arg3149Lys)
c.7850G>A (p.Arg2617Lys)
n.9986G>A
6g.51747907T>ACA364420472PKHD1c.9709A>T (p.Arg3237Ter)
c.9580A>T (p.Arg3194Ter)
c.9571A>T (p.Arg3191Ter)
c.9067A>T (p.Arg3023Ter)
c.8998A>T (p.Arg3000Ter)
c.3784A>T (p.Arg1262Ter)
c.9634A>T (p.Arg3212Ter)
c.9514A>T (p.Arg3172Ter)
c.9445A>T (p.Arg3149Ter)
c.7849A>T (p.Arg2617Ter)
n.9985A>T
6g.51747907T>CCA364420474PKHD1c.9709A>G (p.Arg3237Gly)
c.9580A>G (p.Arg3194Gly)
c.9571A>G (p.Arg3191Gly)
c.9067A>G (p.Arg3023Gly)
c.8998A>G (p.Arg3000Gly)
c.3784A>G (p.Arg1262Gly)
c.9634A>G (p.Arg3212Gly)
c.9514A>G (p.Arg3172Gly)
c.9445A>G (p.Arg3149Gly)
c.7849A>G (p.Arg2617Gly)
n.9985A>G
 dbSNP gnomAD v3 gnomAD v4
6g.51747907T>GCA450613555PKHD1c.9709A>C (p.Arg3237=)
c.9580A>C (p.Arg3194=)
c.9571A>C (p.Arg3191=)
c.9067A>C (p.Arg3023=)
c.8998A>C (p.Arg3000=)
c.3784A>C (p.Arg1262=)
c.9634A>C (p.Arg3212=)
c.9514A>C (p.Arg3172=)
c.9445A>C (p.Arg3149=)
c.7849A>C (p.Arg2617=)
n.9985A>C
6g.51747907T=CA1628502062PKHD1c.9709A= (p.Arg3237=)
c.9580A= (p.Arg3194=)
c.9571A= (p.Arg3191=)
c.9067A= (p.Arg3023=)
c.8998A= (p.Arg3000=)
c.3784A= (p.Arg1262=)
c.9634A= (p.Arg3212=)
c.9514A= (p.Arg3172=)
c.9445A= (p.Arg3149=)
c.7849A= (p.Arg2617=)
n.9985A=
6g.51747908T>ACA450613556PKHD1c.9708A>T (p.Pro3236=)
c.9579A>T (p.Pro3193=)
c.9570A>T (p.Pro3190=)
c.9066A>T (p.Pro3022=)
c.8997A>T (p.Pro2999=)
c.3783A>T (p.Pro1261=)
c.9633A>T (p.Pro3211=)
c.9513A>T (p.Pro3171=)
c.9444A>T (p.Pro3148=)
c.7848A>T (p.Pro2616=)
n.9984A>T
6g.51747908T>CCA450613557PKHD1c.9708A>G (p.Pro3236=)
c.9579A>G (p.Pro3193=)
c.9570A>G (p.Pro3190=)
c.9066A>G (p.Pro3022=)
c.8997A>G (p.Pro2999=)
c.3783A>G (p.Pro1261=)
c.9633A>G (p.Pro3211=)
c.9513A>G (p.Pro3171=)
c.9444A>G (p.Pro3148=)
c.7848A>G (p.Pro2616=)
n.9984A>G
6g.51747908T>GCA450613558PKHD1c.9708A>C (p.Pro3236=)
c.9579A>C (p.Pro3193=)
c.9570A>C (p.Pro3190=)
c.9066A>C (p.Pro3022=)
c.8997A>C (p.Pro2999=)
c.3783A>C (p.Pro1261=)
c.9633A>C (p.Pro3211=)
c.9513A>C (p.Pro3171=)
c.9444A>C (p.Pro3148=)
c.7848A>C (p.Pro2616=)
n.9984A>C
6g.51747909G>ACA364420477PKHD1c.9707C>T (p.Pro3236Leu)
c.9578C>T (p.Pro3193Leu)
c.9569C>T (p.Pro3190Leu)
c.9065C>T (p.Pro3022Leu)
c.8996C>T (p.Pro2999Leu)
c.3782C>T (p.Pro1261Leu)
c.9632C>T (p.Pro3211Leu)
c.9512C>T (p.Pro3171Leu)
c.9443C>T (p.Pro3148Leu)
c.7847C>T (p.Pro2616Leu)
n.9983C>T
 COSMIC COSMIC
6g.51747909G>CCA364420478PKHD1c.9707C>G (p.Pro3236Arg)
c.9578C>G (p.Pro3193Arg)
c.9569C>G (p.Pro3190Arg)
c.9065C>G (p.Pro3022Arg)
c.8996C>G (p.Pro2999Arg)
c.3782C>G (p.Pro1261Arg)
c.9632C>G (p.Pro3211Arg)
c.9512C>G (p.Pro3171Arg)
c.9443C>G (p.Pro3148Arg)
c.7847C>G (p.Pro2616Arg)
n.9983C>G
6g.51747909G>TCA364420480PKHD1c.9707C>A (p.Pro3236Gln)
c.9578C>A (p.Pro3193Gln)
c.9569C>A (p.Pro3190Gln)
c.9065C>A (p.Pro3022Gln)
c.8996C>A (p.Pro2999Gln)
c.3782C>A (p.Pro1261Gln)
c.9632C>A (p.Pro3211Gln)
c.9512C>A (p.Pro3171Gln)
c.9443C>A (p.Pro3148Gln)
c.7847C>A (p.Pro2616Gln)
n.9983C>A
6g.51747910delCA2695206423PKHD1c.9707del (p.Pro3236GlnfsTer28)
c.9578del (p.Pro3193GlnfsTer28)
c.9569del (p.Pro3190GlnfsTer28)
c.9065del (p.Pro3022GlnfsTer28)
c.8996del (p.Pro2999GlnfsTer28)
c.3782del (p.Pro1261GlnfsTer28)
c.9632del (p.Pro3211GlnfsTer28)
c.9512del (p.Pro3171GlnfsTer28)
c.9443del (p.Pro3148GlnfsTer28)
c.7847del (p.Pro2616GlnfsTer28)
n.9983del
6g.51747910G>ACA364420483PKHD1c.9706C>T (p.Pro3236Ser)
c.9577C>T (p.Pro3193Ser)
c.9568C>T (p.Pro3190Ser)
c.9064C>T (p.Pro3022Ser)
c.8995C>T (p.Pro2999Ser)
c.3781C>T (p.Pro1261Ser)
c.9631C>T (p.Pro3211Ser)
c.9511C>T (p.Pro3171Ser)
c.9442C>T (p.Pro3148Ser)
c.7846C>T (p.Pro2616Ser)
n.9982C>T
 COSMIC COSMIC
6g.51747910G>CCA364420485PKHD1c.9706C>G (p.Pro3236Ala)
c.9577C>G (p.Pro3193Ala)
c.9568C>G (p.Pro3190Ala)
c.9064C>G (p.Pro3022Ala)
c.8995C>G (p.Pro2999Ala)
c.3781C>G (p.Pro1261Ala)
c.9631C>G (p.Pro3211Ala)
c.9511C>G (p.Pro3171Ala)
c.9442C>G (p.Pro3148Ala)
c.7846C>G (p.Pro2616Ala)
n.9982C>G
6g.51747910G>TCA364420482PKHD1c.9706C>A (p.Pro3236Thr)
c.9577C>A (p.Pro3193Thr)
c.9568C>A (p.Pro3190Thr)
c.9064C>A (p.Pro3022Thr)
c.8995C>A (p.Pro2999Thr)
c.3781C>A (p.Pro1261Thr)
c.9631C>A (p.Pro3211Thr)
c.9511C>A (p.Pro3171Thr)
c.9442C>A (p.Pro3148Thr)
c.7846C>A (p.Pro2616Thr)
n.9982C>A
6g.51747911A=CA1628502067PKHD1c.9705T= (p.Asn3235=)
c.9576T= (p.Asn3192=)
c.9567T= (p.Asn3189=)
c.9063T= (p.Asn3021=)
c.8994T= (p.Asn2998=)
c.3780T= (p.Asn1260=)
c.9630T= (p.Asn3210=)
c.9510T= (p.Asn3170=)
c.9441T= (p.Asn3147=)
c.7845T= (p.Asn2615=)
n.9981T=
6g.51747911A>CCA364420488PKHD1c.9705T>G (p.Asn3235Lys)
c.9576T>G (p.Asn3192Lys)
c.9567T>G (p.Asn3189Lys)
c.9063T>G (p.Asn3021Lys)
c.8994T>G (p.Asn2998Lys)
c.3780T>G (p.Asn1260Lys)
c.9630T>G (p.Asn3210Lys)
c.9510T>G (p.Asn3170Lys)
c.9441T>G (p.Asn3147Lys)
c.7845T>G (p.Asn2615Lys)
n.9981T>G
6g.51747911A>GCA450613563PKHD1c.9705T>C (p.Asn3235=)
c.9576T>C (p.Asn3192=)
c.9567T>C (p.Asn3189=)
c.9063T>C (p.Asn3021=)
c.8994T>C (p.Asn2998=)
c.3780T>C (p.Asn1260=)
c.9630T>C (p.Asn3210=)
c.9510T>C (p.Asn3170=)
c.9441T>C (p.Asn3147=)
c.7845T>C (p.Asn2615=)
n.9981T>C
6g.51747911A>TCA3851350PKHD1c.9705T>A (p.Asn3235Lys)
c.9576T>A (p.Asn3192Lys)
c.9567T>A (p.Asn3189Lys)
c.9063T>A (p.Asn3021Lys)
c.8994T>A (p.Asn2998Lys)
c.3780T>A (p.Asn1260Lys)
c.9630T>A (p.Asn3210Lys)
c.9510T>A (p.Asn3170Lys)
c.9441T>A (p.Asn3147Lys)
c.7845T>A (p.Asn2615Lys)
n.9981T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51747912T>ACA364420491PKHD1c.9704A>T (p.Asn3235Ile)
c.9575A>T (p.Asn3192Ile)
c.9566A>T (p.Asn3189Ile)
c.9062A>T (p.Asn3021Ile)
c.8993A>T (p.Asn2998Ile)
c.3779A>T (p.Asn1260Ile)
c.9629A>T (p.Asn3210Ile)
c.9509A>T (p.Asn3170Ile)
c.9440A>T (p.Asn3147Ile)
c.7844A>T (p.Asn2615Ile)
n.9980A>T
6g.51747912T>CCA364420493PKHD1c.9704A>G (p.Asn3235Ser)
c.9575A>G (p.Asn3192Ser)
c.9566A>G (p.Asn3189Ser)
c.9062A>G (p.Asn3021Ser)
c.8993A>G (p.Asn2998Ser)
c.3779A>G (p.Asn1260Ser)
c.9629A>G (p.Asn3210Ser)
c.9509A>G (p.Asn3170Ser)
c.9440A>G (p.Asn3147Ser)
c.7844A>G (p.Asn2615Ser)
n.9980A>G
6g.51747912T>GCA364420494PKHD1c.9704A>C (p.Asn3235Thr)
c.9575A>C (p.Asn3192Thr)
c.9566A>C (p.Asn3189Thr)
c.9062A>C (p.Asn3021Thr)
c.8993A>C (p.Asn2998Thr)
c.3779A>C (p.Asn1260Thr)
c.9629A>C (p.Asn3210Thr)
c.9509A>C (p.Asn3170Thr)
c.9440A>C (p.Asn3147Thr)
c.7844A>C (p.Asn2615Thr)
n.9980A>C
6g.51747913T>ACA364420500PKHD1c.9703A>T (p.Asn3235Tyr)
c.9574A>T (p.Asn3192Tyr)
c.9565A>T (p.Asn3189Tyr)
c.9061A>T (p.Asn3021Tyr)
c.8992A>T (p.Asn2998Tyr)
c.3778A>T (p.Asn1260Tyr)
c.9628A>T (p.Asn3210Tyr)
c.9508A>T (p.Asn3170Tyr)
c.9439A>T (p.Asn3147Tyr)
c.7843A>T (p.Asn2615Tyr)
n.9979A>T
6g.51747913T>CCA364420499PKHD1c.9703A>G (p.Asn3235Asp)
c.9574A>G (p.Asn3192Asp)
c.9565A>G (p.Asn3189Asp)
c.9061A>G (p.Asn3021Asp)
c.8992A>G (p.Asn2998Asp)
c.3778A>G (p.Asn1260Asp)
c.9628A>G (p.Asn3210Asp)
c.9508A>G (p.Asn3170Asp)
c.9439A>G (p.Asn3147Asp)
c.7843A>G (p.Asn2615Asp)
n.9979A>G
6g.51747913T>GCA364420497PKHD1c.9703A>C (p.Asn3235His)
c.9574A>C (p.Asn3192His)
c.9565A>C (p.Asn3189His)
c.9061A>C (p.Asn3021His)
c.8992A>C (p.Asn2998His)
c.3778A>C (p.Asn1260His)
c.9628A>C (p.Asn3210His)
c.9508A>C (p.Asn3170His)
c.9439A>C (p.Asn3147His)
c.7843A>C (p.Asn2615His)
n.9979A>C
6g.51747914G>ACA450613565PKHD1c.9702C>T (p.Ser3234=)
c.9573C>T (p.Ser3191=)
c.9564C>T (p.Ser3188=)
c.9060C>T (p.Ser3020=)
c.8991C>T (p.Ser2997=)
c.3777C>T (p.Ser1259=)
c.9627C>T (p.Ser3209=)
c.9507C>T (p.Ser3169=)
c.9438C>T (p.Ser3146=)
c.7842C>T (p.Ser2614=)
n.9978C>T
 dbSNP
6g.51747914G>CCA450613567PKHD1c.9702C>G (p.Ser3234=)
c.9573C>G (p.Ser3191=)
c.9564C>G (p.Ser3188=)
c.9060C>G (p.Ser3020=)
c.8991C>G (p.Ser2997=)
c.3777C>G (p.Ser1259=)
c.9627C>G (p.Ser3209=)
c.9507C>G (p.Ser3169=)
c.9438C>G (p.Ser3146=)
c.7842C>G (p.Ser2614=)
n.9978C>G
6g.51747914G=CA1628502072PKHD1c.9702C= (p.Ser3234=)
c.9573C= (p.Ser3191=)
c.9564C= (p.Ser3188=)
c.9060C= (p.Ser3020=)
c.8991C= (p.Ser2997=)
c.3777C= (p.Ser1259=)
c.9627C= (p.Ser3209=)
c.9507C= (p.Ser3169=)
c.9438C= (p.Ser3146=)
c.7842C= (p.Ser2614=)
n.9978C=
6g.51747914G>TCA450613570PKHD1c.9702C>A (p.Ser3234=)
c.9573C>A (p.Ser3191=)
c.9564C>A (p.Ser3188=)
c.9060C>A (p.Ser3020=)
c.8991C>A (p.Ser2997=)
c.3777C>A (p.Ser1259=)
c.9627C>A (p.Ser3209=)
c.9507C>A (p.Ser3169=)
c.9438C>A (p.Ser3146=)
c.7842C>A (p.Ser2614=)
n.9978C>A
6g.51747915delCA2695206424PKHD1c.9702del (p.Asn3235IlefsTer29)
c.9573del (p.Asn3192IlefsTer29)
c.9564del (p.Asn3189IlefsTer29)
c.9060del (p.Asn3021IlefsTer29)
c.8991del (p.Asn2998IlefsTer29)
c.3777del (p.Asn1260IlefsTer29)
c.9627del (p.Asn3210IlefsTer29)
c.9507del (p.Asn3170IlefsTer29)
c.9438del (p.Asn3147IlefsTer29)
c.7842del (p.Asn2615IlefsTer29)
n.9978del
6g.51747915G>ACA364420501PKHD1c.9701C>T (p.Ser3234Phe)
c.9572C>T (p.Ser3191Phe)
c.9563C>T (p.Ser3188Phe)
c.9059C>T (p.Ser3020Phe)
c.8990C>T (p.Ser2997Phe)
c.3776C>T (p.Ser1259Phe)
c.9626C>T (p.Ser3209Phe)
c.9506C>T (p.Ser3169Phe)
c.9437C>T (p.Ser3146Phe)
c.7841C>T (p.Ser2614Phe)
n.9977C>T
 COSMIC COSMIC
6g.51747915G>CCA364420502PKHD1c.9701C>G (p.Ser3234Cys)
c.9572C>G (p.Ser3191Cys)
c.9563C>G (p.Ser3188Cys)
c.9059C>G (p.Ser3020Cys)
c.8990C>G (p.Ser2997Cys)
c.3776C>G (p.Ser1259Cys)
c.9626C>G (p.Ser3209Cys)
c.9506C>G (p.Ser3169Cys)
c.9437C>G (p.Ser3146Cys)
c.7841C>G (p.Ser2614Cys)
n.9977C>G
6g.51747915G>TCA364420503PKHD1c.9701C>A (p.Ser3234Tyr)
c.9572C>A (p.Ser3191Tyr)
c.9563C>A (p.Ser3188Tyr)
c.9059C>A (p.Ser3020Tyr)
c.8990C>A (p.Ser2997Tyr)
c.3776C>A (p.Ser1259Tyr)
c.9626C>A (p.Ser3209Tyr)
c.9506C>A (p.Ser3169Tyr)
c.9437C>A (p.Ser3146Tyr)
c.7841C>A (p.Ser2614Tyr)
n.9977C>A
6g.51747916A>CCA364420504PKHD1c.9700T>G (p.Ser3234Ala)
c.9571T>G (p.Ser3191Ala)
c.9562T>G (p.Ser3188Ala)
c.9058T>G (p.Ser3020Ala)
c.8989T>G (p.Ser2997Ala)
c.3775T>G (p.Ser1259Ala)
c.9625T>G (p.Ser3209Ala)
c.9505T>G (p.Ser3169Ala)
c.9436T>G (p.Ser3146Ala)
c.7840T>G (p.Ser2614Ala)
n.9976T>G
6g.51747916A>GCA364420505PKHD1c.9700T>C (p.Ser3234Pro)
c.9571T>C (p.Ser3191Pro)
c.9562T>C (p.Ser3188Pro)
c.9058T>C (p.Ser3020Pro)
c.8989T>C (p.Ser2997Pro)
c.3775T>C (p.Ser1259Pro)
c.9625T>C (p.Ser3209Pro)
c.9505T>C (p.Ser3169Pro)
c.9436T>C (p.Ser3146Pro)
c.7840T>C (p.Ser2614Pro)
n.9976T>C
6g.51747916A>TCA364420506PKHD1c.9700T>A (p.Ser3234Thr)
c.9571T>A (p.Ser3191Thr)
c.9562T>A (p.Ser3188Thr)
c.9058T>A (p.Ser3020Thr)
c.8989T>A (p.Ser2997Thr)
c.3775T>A (p.Ser1259Thr)
c.9625T>A (p.Ser3209Thr)
c.9505T>A (p.Ser3169Thr)
c.9436T>A (p.Ser3146Thr)
c.7840T>A (p.Ser2614Thr)
n.9976T>A
6g.51747916_51747917delinsAGCA1628502081PKHD1c.9699_9700delinsCT (p.Pro3233=)
c.9570_9571delinsCT (p.Pro3190=)
c.9561_9562delinsCT (p.Pro3187=)
c.9057_9058delinsCT (p.Pro3019=)
c.8988_8989delinsCT (p.Pro2996=)
c.3774_3775delinsCT (p.Pro1258=)
c.9624_9625delinsCT (p.Pro3208=)
c.9504_9505delinsCT (p.Pro3168=)
c.9435_9436delinsCT (p.Pro3145=)
c.7839_7840delinsCT (p.Pro2613=)
n.9975_9976delinsCT
6g.51747917G>ACA138895902PKHD1c.9699C>T (p.Pro3233=)
c.9570C>T (p.Pro3190=)
c.9561C>T (p.Pro3187=)
c.9057C>T (p.Pro3019=)
c.8988C>T (p.Pro2996=)
c.3774C>T (p.Pro1258=)
c.9624C>T (p.Pro3208=)
c.9504C>T (p.Pro3168=)
c.9435C>T (p.Pro3145=)
c.7839C>T (p.Pro2613=)
n.9975C>T
 dbSNP
6g.51747917G>CCA450613571PKHD1c.9699C>G (p.Pro3233=)
c.9570C>G (p.Pro3190=)
c.9561C>G (p.Pro3187=)
c.9057C>G (p.Pro3019=)
c.8988C>G (p.Pro2996=)
c.3774C>G (p.Pro1258=)
c.9624C>G (p.Pro3208=)
c.9504C>G (p.Pro3168=)
c.9435C>G (p.Pro3145=)
c.7839C>G (p.Pro2613=)
n.9975C>G
6g.51747917G=CA1628502084PKHD1c.9699C= (p.Pro3233=)
c.9570C= (p.Pro3190=)
c.9561C= (p.Pro3187=)
c.9057C= (p.Pro3019=)
c.8988C= (p.Pro2996=)
c.3774C= (p.Pro1258=)
c.9624C= (p.Pro3208=)
c.9504C= (p.Pro3168=)
c.9435C= (p.Pro3145=)
c.7839C= (p.Pro2613=)
n.9975C=
6g.51747917G>TCA450613572PKHD1c.9699C>A (p.Pro3233=)
c.9570C>A (p.Pro3190=)
c.9561C>A (p.Pro3187=)
c.9057C>A (p.Pro3019=)
c.8988C>A (p.Pro2996=)
c.3774C>A (p.Pro1258=)
c.9624C>A (p.Pro3208=)
c.9504C>A (p.Pro3168=)
c.9435C>A (p.Pro3145=)
c.7839C>A (p.Pro2613=)
n.9975C>A
6g.51747919delCA916082835PKHD1c.9699del (p.Ser3234ProfsTer?)
c.9570del (p.Ser3191ProfsTer?)
c.9561del (p.Ser3188ProfsTer?)
c.9057del (p.Ser3020ProfsTer?)
c.8988del (p.Ser2997ProfsTer?)
c.3774del (p.Ser1259ProfsTer?)
c.9624del (p.Ser3209ProfsTer?)
c.9504del (p.Ser3169ProfsTer?)
c.9435del (p.Ser3146ProfsTer?)
c.7839del (p.Ser2614ProfsTer?)
n.9975del
 ClinVar dbSNP
6g.51747918G>ACA364420507PKHD1c.9698C>T (p.Pro3233Leu)
c.9569C>T (p.Pro3190Leu)
c.9560C>T (p.Pro3187Leu)
c.9056C>T (p.Pro3019Leu)
c.8987C>T (p.Pro2996Leu)
c.3773C>T (p.Pro1258Leu)
c.9623C>T (p.Pro3208Leu)
c.9503C>T (p.Pro3168Leu)
c.9434C>T (p.Pro3145Leu)
c.7838C>T (p.Pro2613Leu)
n.9974C>T
6g.51747918G>CCA364420509PKHD1c.9698C>G (p.Pro3233Arg)
c.9569C>G (p.Pro3190Arg)
c.9560C>G (p.Pro3187Arg)
c.9056C>G (p.Pro3019Arg)
c.8987C>G (p.Pro2996Arg)
c.3773C>G (p.Pro1258Arg)
c.9623C>G (p.Pro3208Arg)
c.9503C>G (p.Pro3168Arg)
c.9434C>G (p.Pro3145Arg)
c.7838C>G (p.Pro2613Arg)
n.9974C>G
6g.51747918G>TCA364420508PKHD1c.9698C>A (p.Pro3233His)
c.9569C>A (p.Pro3190His)
c.9560C>A (p.Pro3187His)
c.9056C>A (p.Pro3019His)
c.8987C>A (p.Pro2996His)
c.3773C>A (p.Pro1258His)
c.9623C>A (p.Pro3208His)
c.9503C>A (p.Pro3168His)
c.9434C>A (p.Pro3145His)
c.7838C>A (p.Pro2613His)
n.9974C>A
6g.51747919G>ACA3851351PKHD1c.9697C>T (p.Pro3233Ser)
c.9568C>T (p.Pro3190Ser)
c.9559C>T (p.Pro3187Ser)
c.9055C>T (p.Pro3019Ser)
c.8986C>T (p.Pro2996Ser)
c.3772C>T (p.Pro1258Ser)
c.9622C>T (p.Pro3208Ser)
c.9502C>T (p.Pro3168Ser)
c.9433C>T (p.Pro3145Ser)
c.7837C>T (p.Pro2613Ser)
n.9973C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51747919G>CCA364420510PKHD1c.9697C>G (p.Pro3233Ala)
c.9568C>G (p.Pro3190Ala)
c.9559C>G (p.Pro3187Ala)
c.9055C>G (p.Pro3019Ala)
c.8986C>G (p.Pro2996Ala)
c.3772C>G (p.Pro1258Ala)
c.9622C>G (p.Pro3208Ala)
c.9502C>G (p.Pro3168Ala)
c.9433C>G (p.Pro3145Ala)
c.7837C>G (p.Pro2613Ala)
n.9973C>G
6g.51747919G=CA1628502087PKHD1c.9697C= (p.Pro3233=)
c.9568C= (p.Pro3190=)
c.9559C= (p.Pro3187=)
c.9055C= (p.Pro3019=)
c.8986C= (p.Pro2996=)
c.3772C= (p.Pro1258=)
c.9622C= (p.Pro3208=)
c.9502C= (p.Pro3168=)
c.9433C= (p.Pro3145=)
c.7837C= (p.Pro2613=)
n.9973C=
6g.51747919G>TCA364420511PKHD1c.9697C>A (p.Pro3233Thr)
c.9568C>A (p.Pro3190Thr)
c.9559C>A (p.Pro3187Thr)
c.9055C>A (p.Pro3019Thr)
c.8986C>A (p.Pro2996Thr)
c.3772C>A (p.Pro1258Thr)
c.9622C>A (p.Pro3208Thr)
c.9502C>A (p.Pro3168Thr)
c.9433C>A (p.Pro3145Thr)
c.7837C>A (p.Pro2613Thr)
n.9973C>A
6g.51747920A=CA1628502091PKHD1c.9696T= (p.Ala3232=)
c.9567T= (p.Ala3189=)
c.9558T= (p.Ala3186=)
c.9054T= (p.Ala3018=)
c.8985T= (p.Ala2995=)
c.3771T= (p.Ala1257=)
c.9621T= (p.Ala3207=)
c.9501T= (p.Ala3167=)
c.9432T= (p.Ala3144=)
c.7836T= (p.Ala2612=)
n.9972T=
6g.51747920A>CCA450613576PKHD1c.9696T>G (p.Ala3232=)
c.9567T>G (p.Ala3189=)
c.9558T>G (p.Ala3186=)
c.9054T>G (p.Ala3018=)
c.8985T>G (p.Ala2995=)
c.3771T>G (p.Ala1257=)
c.9621T>G (p.Ala3207=)
c.9501T>G (p.Ala3167=)
c.9432T>G (p.Ala3144=)
c.7836T>G (p.Ala2612=)
n.9972T>G
 ClinVar
6g.51747920A>GCA138895910PKHD1c.9696T>C (p.Ala3232=)
c.9567T>C (p.Ala3189=)
c.9558T>C (p.Ala3186=)
c.9054T>C (p.Ala3018=)
c.8985T>C (p.Ala2995=)
c.3771T>C (p.Ala1257=)
c.9621T>C (p.Ala3207=)
c.9501T>C (p.Ala3167=)
c.9432T>C (p.Ala3144=)
c.7836T>C (p.Ala2612=)
n.9972T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.51747920A>TCA450613574PKHD1c.9696T>A (p.Ala3232=)
c.9567T>A (p.Ala3189=)
c.9558T>A (p.Ala3186=)
c.9054T>A (p.Ala3018=)
c.8985T>A (p.Ala2995=)
c.3771T>A (p.Ala1257=)
c.9621T>A (p.Ala3207=)
c.9501T>A (p.Ala3167=)
c.9432T>A (p.Ala3144=)
c.7836T>A (p.Ala2612=)
n.9972T>A
6g.51747921G>ACA138895911PKHD1c.9695C>T (p.Ala3232Val)
c.9566C>T (p.Ala3189Val)
c.9557C>T (p.Ala3186Val)
c.9053C>T (p.Ala3018Val)
c.8984C>T (p.Ala2995Val)
c.3770C>T (p.Ala1257Val)
c.9620C>T (p.Ala3207Val)
c.9500C>T (p.Ala3167Val)
c.9431C>T (p.Ala3144Val)
c.7835C>T (p.Ala2612Val)
n.9971C>T
 dbSNP gnomAD v3 gnomAD v4
6g.51747921G>CCA364420512PKHD1c.9695C>G (p.Ala3232Gly)
c.9566C>G (p.Ala3189Gly)
c.9557C>G (p.Ala3186Gly)
c.9053C>G (p.Ala3018Gly)
c.8984C>G (p.Ala2995Gly)
c.3770C>G (p.Ala1257Gly)
c.9620C>G (p.Ala3207Gly)
c.9500C>G (p.Ala3167Gly)
c.9431C>G (p.Ala3144Gly)
c.7835C>G (p.Ala2612Gly)
n.9971C>G
6g.51747921G=CA1628502092PKHD1c.9695C= (p.Ala3232=)
c.9566C= (p.Ala3189=)
c.9557C= (p.Ala3186=)
c.9053C= (p.Ala3018=)
c.8984C= (p.Ala2995=)
c.3770C= (p.Ala1257=)
c.9620C= (p.Ala3207=)
c.9500C= (p.Ala3167=)
c.9431C= (p.Ala3144=)
c.7835C= (p.Ala2612=)
n.9971C=
6g.51747921G>TCA364420513PKHD1c.9695C>A (p.Ala3232Asp)
c.9566C>A (p.Ala3189Asp)
c.9557C>A (p.Ala3186Asp)
c.9053C>A (p.Ala3018Asp)
c.8984C>A (p.Ala2995Asp)
c.3770C>A (p.Ala1257Asp)
c.9620C>A (p.Ala3207Asp)
c.9500C>A (p.Ala3167Asp)
c.9431C>A (p.Ala3144Asp)
c.7835C>A (p.Ala2612Asp)
n.9971C>A
6g.51747922C>ACA364420514PKHD1c.9694G>T (p.Ala3232Ser)
c.9565G>T (p.Ala3189Ser)
c.9556G>T (p.Ala3186Ser)
c.9052G>T (p.Ala3018Ser)
c.8983G>T (p.Ala2995Ser)
c.3769G>T (p.Ala1257Ser)
c.9619G>T (p.Ala3207Ser)
c.9499G>T (p.Ala3167Ser)
c.9430G>T (p.Ala3144Ser)
c.7834G>T (p.Ala2612Ser)
n.9970G>T
6g.51747922C>GCA364420515PKHD1c.9694G>C (p.Ala3232Pro)
c.9565G>C (p.Ala3189Pro)
c.9556G>C (p.Ala3186Pro)
c.9052G>C (p.Ala3018Pro)
c.8983G>C (p.Ala2995Pro)
c.3769G>C (p.Ala1257Pro)
c.9619G>C (p.Ala3207Pro)
c.9499G>C (p.Ala3167Pro)
c.9430G>C (p.Ala3144Pro)
c.7834G>C (p.Ala2612Pro)
n.9970G>C
6g.51747922C>TCA364420516PKHD1c.9694G>A (p.Ala3232Thr)
c.9565G>A (p.Ala3189Thr)
c.9556G>A (p.Ala3186Thr)
c.9052G>A (p.Ala3018Thr)
c.8983G>A (p.Ala2995Thr)
c.3769G>A (p.Ala1257Thr)
c.9619G>A (p.Ala3207Thr)
c.9499G>A (p.Ala3167Thr)
c.9430G>A (p.Ala3144Thr)
c.7834G>A (p.Ala2612Thr)
n.9970G>A
6g.51747923T>ACA364420517PKHD1c.9693A>T (p.Arg3231Ser)
c.9564A>T (p.Arg3188Ser)
c.9555A>T (p.Arg3185Ser)
c.9051A>T (p.Arg3017Ser)
c.8982A>T (p.Arg2994Ser)
c.3768A>T (p.Arg1256Ser)
c.9618A>T (p.Arg3206Ser)
c.9498A>T (p.Arg3166Ser)
c.9429A>T (p.Arg3143Ser)
c.7833A>T (p.Arg2611Ser)
n.9969A>T
6g.51747923T>CCA450613579PKHD1c.9693A>G (p.Arg3231=)
c.9564A>G (p.Arg3188=)
c.9555A>G (p.Arg3185=)
c.9051A>G (p.Arg3017=)
c.8982A>G (p.Arg2994=)
c.3768A>G (p.Arg1256=)
c.9618A>G (p.Arg3206=)
c.9498A>G (p.Arg3166=)
c.9429A>G (p.Arg3143=)
c.7833A>G (p.Arg2611=)
n.9969A>G
6g.51747923T>GCA364420518PKHD1c.9693A>C (p.Arg3231Ser)
c.9564A>C (p.Arg3188Ser)
c.9555A>C (p.Arg3185Ser)
c.9051A>C (p.Arg3017Ser)
c.8982A>C (p.Arg2994Ser)
c.3768A>C (p.Arg1256Ser)
c.9618A>C (p.Arg3206Ser)
c.9498A>C (p.Arg3166Ser)
c.9429A>C (p.Arg3143Ser)
c.7833A>C (p.Arg2611Ser)
n.9969A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.51747923T=CA1628502094PKHD1c.9693A= (p.Arg3231=)
c.9564A= (p.Arg3188=)
c.9555A= (p.Arg3185=)
c.9051A= (p.Arg3017=)
c.8982A= (p.Arg2994=)
c.3768A= (p.Arg1256=)
c.9618A= (p.Arg3206=)
c.9498A= (p.Arg3166=)
c.9429A= (p.Arg3143=)
c.7833A= (p.Arg2611=)
n.9969A=
6g.51747924C>ACA364420519PKHD1c.9692G>T (p.Arg3231Ile)
c.9563G>T (p.Arg3188Ile)
c.9554G>T (p.Arg3185Ile)
c.9050G>T (p.Arg3017Ile)
c.8981G>T (p.Arg2994Ile)
c.3767G>T (p.Arg1256Ile)
c.9617G>T (p.Arg3206Ile)
c.9497G>T (p.Arg3166Ile)
c.9428G>T (p.Arg3143Ile)
c.7832G>T (p.Arg2611Ile)
n.9968G>T
6g.51747924C>GCA364420521PKHD1c.9692G>C (p.Arg3231Thr)
c.9563G>C (p.Arg3188Thr)
c.9554G>C (p.Arg3185Thr)
c.9050G>C (p.Arg3017Thr)
c.8981G>C (p.Arg2994Thr)
c.3767G>C (p.Arg1256Thr)
c.9617G>C (p.Arg3206Thr)
c.9497G>C (p.Arg3166Thr)
c.9428G>C (p.Arg3143Thr)
c.7832G>C (p.Arg2611Thr)
n.9968G>C
6g.51747924C>TCA364420520PKHD1c.9692G>A (p.Arg3231Lys)
c.9563G>A (p.Arg3188Lys)
c.9554G>A (p.Arg3185Lys)
c.9050G>A (p.Arg3017Lys)
c.8981G>A (p.Arg2994Lys)
c.3767G>A (p.Arg1256Lys)
c.9617G>A (p.Arg3206Lys)
c.9497G>A (p.Arg3166Lys)
c.9428G>A (p.Arg3143Lys)
c.7832G>A (p.Arg2611Lys)
n.9968G>A
6g.51747925T>ACA364420522PKHD1c.9691A>T (p.Arg3231Ter)
c.9562A>T (p.Arg3188Ter)
c.9553A>T (p.Arg3185Ter)
c.9049A>T (p.Arg3017Ter)
c.8980A>T (p.Arg2994Ter)
c.3766A>T (p.Arg1256Ter)
c.9616A>T (p.Arg3206Ter)
c.9496A>T (p.Arg3166Ter)
c.9427A>T (p.Arg3143Ter)
c.7831A>T (p.Arg2611Ter)
n.9967A>T
6g.51747925T>CCA364420523PKHD1c.9691A>G (p.Arg3231Gly)
c.9562A>G (p.Arg3188Gly)
c.9553A>G (p.Arg3185Gly)
c.9049A>G (p.Arg3017Gly)
c.8980A>G (p.Arg2994Gly)
c.3766A>G (p.Arg1256Gly)
c.9616A>G (p.Arg3206Gly)
c.9496A>G (p.Arg3166Gly)
c.9427A>G (p.Arg3143Gly)
c.7831A>G (p.Arg2611Gly)
n.9967A>G
 dbSNP gnomAD v3 gnomAD v4
6g.51747925T>GCA450613581PKHD1c.9691A>C (p.Arg3231=)
c.9562A>C (p.Arg3188=)
c.9553A>C (p.Arg3185=)
c.9049A>C (p.Arg3017=)
c.8980A>C (p.Arg2994=)
c.3766A>C (p.Arg1256=)
c.9616A>C (p.Arg3206=)
c.9496A>C (p.Arg3166=)
c.9427A>C (p.Arg3143=)
c.7831A>C (p.Arg2611=)
n.9967A>C
6g.51747925T=CA1628502096PKHD1c.9691A= (p.Arg3231=)
c.9562A= (p.Arg3188=)
c.9553A= (p.Arg3185=)
c.9049A= (p.Arg3017=)
c.8980A= (p.Arg2994=)
c.3766A= (p.Arg1256=)
c.9616A= (p.Arg3206=)
c.9496A= (p.Arg3166=)
c.9427A= (p.Arg3143=)
c.7831A= (p.Arg2611=)
n.9967A=
6g.51747926A>CCA364420524PKHD1c.9690T>G (p.Asp3230Glu)
c.9561T>G (p.Asp3187Glu)
c.9552T>G (p.Asp3184Glu)
c.9048T>G (p.Asp3016Glu)
c.8979T>G (p.Asp2993Glu)
c.3765T>G (p.Asp1255Glu)
c.9615T>G (p.Asp3205Glu)
c.9495T>G (p.Asp3165Glu)
c.9426T>G (p.Asp3142Glu)
c.7830T>G (p.Asp2610Glu)
n.9966T>G
6g.51747926A>GCA450613582PKHD1c.9690T>C (p.Asp3230=)
c.9561T>C (p.Asp3187=)
c.9552T>C (p.Asp3184=)
c.9048T>C (p.Asp3016=)
c.8979T>C (p.Asp2993=)
c.3765T>C (p.Asp1255=)
c.9615T>C (p.Asp3205=)
c.9495T>C (p.Asp3165=)
c.9426T>C (p.Asp3142=)
c.7830T>C (p.Asp2610=)
n.9966T>C
6g.51747926A>TCA364420525PKHD1c.9690T>A (p.Asp3230Glu)
c.9561T>A (p.Asp3187Glu)
c.9552T>A (p.Asp3184Glu)
c.9048T>A (p.Asp3016Glu)
c.8979T>A (p.Asp2993Glu)
c.3765T>A (p.Asp1255Glu)
c.9615T>A (p.Asp3205Glu)
c.9495T>A (p.Asp3165Glu)
c.9426T>A (p.Asp3142Glu)
c.7830T>A (p.Asp2610Glu)
n.9966T>A
6g.51747926_51747927delinsATCA1628502098PKHD1c.9689_9690delinsAT (p.Asp3230=)
c.9560_9561delinsAT (p.Asp3187=)
c.9551_9552delinsAT (p.Asp3184=)
c.9047_9048delinsAT (p.Asp3016=)
c.8978_8979delinsAT (p.Asp2993=)
c.3764_3765delinsAT (p.Asp1255=)
c.9614_9615delinsAT (p.Asp3205=)
c.9494_9495delinsAT (p.Asp3165=)
c.9425_9426delinsAT (p.Asp3142=)
c.7829_7830delinsAT (p.Asp2610=)
n.9965_9966delinsAT
6g.51747927delCA224113PKHD1c.9689del (p.Asp3230ValfsTer?)
c.9560del (p.Asp3187ValfsTer?)
c.9551del (p.Asp3184ValfsTer?)
c.9047del (p.Asp3016ValfsTer?)
c.8978del (p.Asp2993ValfsTer?)
c.3764del (p.Asp1255ValfsTer?)
c.9614del (p.Asp3205ValfsTer?)
c.9494del (p.Asp3165ValfsTer?)
c.9425del (p.Asp3142ValfsTer?)
c.7829del (p.Asp2610ValfsTer?)
n.9965del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51747927T>ACA364420526PKHD1c.9689A>T (p.Asp3230Val)
c.9560A>T (p.Asp3187Val)
c.9551A>T (p.Asp3184Val)
c.9047A>T (p.Asp3016Val)
c.8978A>T (p.Asp2993Val)
c.3764A>T (p.Asp1255Val)
c.9614A>T (p.Asp3205Val)
c.9494A>T (p.Asp3165Val)
c.9425A>T (p.Asp3142Val)
c.7829A>T (p.Asp2610Val)
n.9965A>T
 gnomAD v4
6g.51747927T>CCA364420527PKHD1c.9689A>G (p.Asp3230Gly)
c.9560A>G (p.Asp3187Gly)
c.9551A>G (p.Asp3184Gly)
c.9047A>G (p.Asp3016Gly)
c.8978A>G (p.Asp2993Gly)
c.3764A>G (p.Asp1255Gly)
c.9614A>G (p.Asp3205Gly)
c.9494A>G (p.Asp3165Gly)
c.9425A>G (p.Asp3142Gly)
c.7829A>G (p.Asp2610Gly)
n.9965A>G
 gnomAD v4
6g.51747927T>GCA364420528PKHD1c.9689A>C (p.Asp3230Ala)
c.9560A>C (p.Asp3187Ala)
c.9551A>C (p.Asp3184Ala)
c.9047A>C (p.Asp3016Ala)
c.8978A>C (p.Asp2993Ala)
c.3764A>C (p.Asp1255Ala)
c.9614A>C (p.Asp3205Ala)
c.9494A>C (p.Asp3165Ala)
c.9425A>C (p.Asp3142Ala)
c.7829A>C (p.Asp2610Ala)
n.9965A>C
6g.51747928C>ACA364420529PKHD1c.9688G>T (p.Asp3230Tyr)
c.9559G>T (p.Asp3187Tyr)
c.9550G>T (p.Asp3184Tyr)
c.9046G>T (p.Asp3016Tyr)
c.8977G>T (p.Asp2993Tyr)
c.3763G>T (p.Asp1255Tyr)
c.9613G>T (p.Asp3205Tyr)
c.9493G>T (p.Asp3165Tyr)
c.9424G>T (p.Asp3142Tyr)
c.7828G>T (p.Asp2610Tyr)
n.9964G>T
6g.51747928C>GCA364420530PKHD1c.9688G>C (p.Asp3230His)
c.9559G>C (p.Asp3187His)
c.9550G>C (p.Asp3184His)
c.9046G>C (p.Asp3016His)
c.8977G>C (p.Asp2993His)
c.3763G>C (p.Asp1255His)
c.9613G>C (p.Asp3205His)
c.9493G>C (p.Asp3165His)
c.9424G>C (p.Asp3142His)
c.7828G>C (p.Asp2610His)
n.9964G>C
 COSMIC COSMIC
6g.51747928C>TCA364420531PKHD1c.9688G>A (p.Asp3230Asn)
c.9559G>A (p.Asp3187Asn)
c.9550G>A (p.Asp3184Asn)
c.9046G>A (p.Asp3016Asn)
c.8977G>A (p.Asp2993Asn)
c.3763G>A (p.Asp1255Asn)
c.9613G>A (p.Asp3205Asn)
c.9493G>A (p.Asp3165Asn)
c.9424G>A (p.Asp3142Asn)
c.7828G>A (p.Asp2610Asn)
n.9964G>A
 COSMIC COSMIC
6g.51747929T>ACA450613585PKHD1c.9687A>T (p.Thr3229=)
c.9558A>T (p.Thr3186=)
c.9549A>T (p.Thr3183=)
c.9045A>T (p.Thr3015=)
c.8976A>T (p.Thr2992=)
c.3762A>T (p.Thr1254=)
c.9612A>T (p.Thr3204=)
c.9492A>T (p.Thr3164=)
c.9423A>T (p.Thr3141=)
c.7827A>T (p.Thr2609=)
n.9963A>T
6g.51747929T>CCA450613587PKHD1c.9687A>G (p.Thr3229=)
c.9558A>G (p.Thr3186=)
c.9549A>G (p.Thr3183=)
c.9045A>G (p.Thr3015=)
c.8976A>G (p.Thr2992=)
c.3762A>G (p.Thr1254=)
c.9612A>G (p.Thr3204=)
c.9492A>G (p.Thr3164=)
c.9423A>G (p.Thr3141=)
c.7827A>G (p.Thr2609=)
n.9963A>G
6g.51747929T>GCA450613588PKHD1c.9687A>C (p.Thr3229=)
c.9558A>C (p.Thr3186=)
c.9549A>C (p.Thr3183=)
c.9045A>C (p.Thr3015=)
c.8976A>C (p.Thr2992=)
c.3762A>C (p.Thr1254=)
c.9612A>C (p.Thr3204=)
c.9492A>C (p.Thr3164=)
c.9423A>C (p.Thr3141=)
c.7827A>C (p.Thr2609=)
n.9963A>C
6g.51747930G>ACA364420532PKHD1c.9686C>T (p.Thr3229Ile)
c.9557C>T (p.Thr3186Ile)
c.9548C>T (p.Thr3183Ile)
c.9044C>T (p.Thr3015Ile)
c.8975C>T (p.Thr2992Ile)
c.3761C>T (p.Thr1254Ile)
c.9611C>T (p.Thr3204Ile)
c.9491C>T (p.Thr3164Ile)
c.9422C>T (p.Thr3141Ile)
c.7826C>T (p.Thr2609Ile)
n.9962C>T
6g.51747930G>CCA364420533PKHD1c.9686C>G (p.Thr3229Arg)
c.9557C>G (p.Thr3186Arg)
c.9548C>G (p.Thr3183Arg)
c.9044C>G (p.Thr3015Arg)
c.8975C>G (p.Thr2992Arg)
c.3761C>G (p.Thr1254Arg)
c.9611C>G (p.Thr3204Arg)
c.9491C>G (p.Thr3164Arg)
c.9422C>G (p.Thr3141Arg)
c.7826C>G (p.Thr2609Arg)
n.9962C>G
6g.51747930G>TCA364420534PKHD1c.9686C>A (p.Thr3229Lys)
c.9557C>A (p.Thr3186Lys)
c.9548C>A (p.Thr3183Lys)
c.9044C>A (p.Thr3015Lys)
c.8975C>A (p.Thr2992Lys)
c.3761C>A (p.Thr1254Lys)
c.9611C>A (p.Thr3204Lys)
c.9491C>A (p.Thr3164Lys)
c.9422C>A (p.Thr3141Lys)
c.7826C>A (p.Thr2609Lys)
n.9962C>A
6g.51747931T>ACA364420537PKHD1c.9685A>T (p.Thr3229Ser)
c.9556A>T (p.Thr3186Ser)
c.9547A>T (p.Thr3183Ser)
c.9043A>T (p.Thr3015Ser)
c.8974A>T (p.Thr2992Ser)
c.3760A>T (p.Thr1254Ser)
c.9610A>T (p.Thr3204Ser)
c.9490A>T (p.Thr3164Ser)
c.9421A>T (p.Thr3141Ser)
c.7825A>T (p.Thr2609Ser)
n.9961A>T
6g.51747931T>CCA364420535PKHD1c.9685A>G (p.Thr3229Ala)
c.9556A>G (p.Thr3186Ala)
c.9547A>G (p.Thr3183Ala)
c.9043A>G (p.Thr3015Ala)
c.8974A>G (p.Thr2992Ala)
c.3760A>G (p.Thr1254Ala)
c.9610A>G (p.Thr3204Ala)
c.9490A>G (p.Thr3164Ala)
c.9421A>G (p.Thr3141Ala)
c.7825A>G (p.Thr2609Ala)
n.9961A>G
6g.51747931T>GCA364420536PKHD1c.9685A>C (p.Thr3229Pro)
c.9556A>C (p.Thr3186Pro)
c.9547A>C (p.Thr3183Pro)
c.9043A>C (p.Thr3015Pro)
c.8974A>C (p.Thr2992Pro)
c.3760A>C (p.Thr1254Pro)
c.9610A>C (p.Thr3204Pro)
c.9490A>C (p.Thr3164Pro)
c.9421A>C (p.Thr3141Pro)
c.7825A>C (p.Thr2609Pro)
n.9961A>C
6g.51747932delCA2578644758PKHD1c.9685del (p.Thr3229GlnfsTer?)
c.9556del (p.Thr3186GlnfsTer?)
c.9547del (p.Thr3183GlnfsTer?)
c.9043del (p.Thr3015GlnfsTer?)
c.8974del (p.Thr2992GlnfsTer?)
c.3760del (p.Thr1254GlnfsTer?)
c.9610del (p.Thr3204GlnfsTer?)
c.9490del (p.Thr3164GlnfsTer?)
c.9421del (p.Thr3141GlnfsTer?)
c.7825del (p.Thr2609GlnfsTer?)
n.9961del
6g.51747932T>ACA450613591PKHD1c.9684A>T (p.Ser3228=)
c.9555A>T (p.Ser3185=)
c.9546A>T (p.Ser3182=)
c.9042A>T (p.Ser3014=)
c.8973A>T (p.Ser2991=)
c.3759A>T (p.Ser1253=)
c.9609A>T (p.Ser3203=)
c.9489A>T (p.Ser3163=)
c.9420A>T (p.Ser3140=)
c.7824A>T (p.Ser2608=)
n.9960A>T
6g.51747932T>CCA450613592PKHD1c.9684A>G (p.Ser3228=)
c.9555A>G (p.Ser3185=)
c.9546A>G (p.Ser3182=)
c.9042A>G (p.Ser3014=)
c.8973A>G (p.Ser2991=)
c.3759A>G (p.Ser1253=)
c.9609A>G (p.Ser3203=)
c.9489A>G (p.Ser3163=)
c.9420A>G (p.Ser3140=)
c.7824A>G (p.Ser2608=)
n.9960A>G
 dbSNP gnomAD v4
6g.51747932T>GCA450613593PKHD1c.9684A>C (p.Ser3228=)
c.9555A>C (p.Ser3185=)
c.9546A>C (p.Ser3182=)
c.9042A>C (p.Ser3014=)
c.8973A>C (p.Ser2991=)
c.3759A>C (p.Ser1253=)
c.9609A>C (p.Ser3203=)
c.9489A>C (p.Ser3163=)
c.9420A>C (p.Ser3140=)
c.7824A>C (p.Ser2608=)
n.9960A>C
6g.51747932T=CA1628502110PKHD1c.9684A= (p.Ser3228=)
c.9555A= (p.Ser3185=)
c.9546A= (p.Ser3182=)
c.9042A= (p.Ser3014=)
c.8973A= (p.Ser2991=)
c.3759A= (p.Ser1253=)
c.9609A= (p.Ser3203=)
c.9489A= (p.Ser3163=)
c.9420A= (p.Ser3140=)
c.7824A= (p.Ser2608=)
n.9960A=
6g.51747933G>ACA364420538PKHD1c.9683C>T (p.Ser3228Leu)
c.9554C>T (p.Ser3185Leu)
c.9545C>T (p.Ser3182Leu)
c.9041C>T (p.Ser3014Leu)
c.8972C>T (p.Ser2991Leu)
c.3758C>T (p.Ser1253Leu)
c.9608C>T (p.Ser3203Leu)
c.9488C>T (p.Ser3163Leu)
c.9419C>T (p.Ser3140Leu)
c.7823C>T (p.Ser2608Leu)
n.9959C>T
6g.51747933G>CCA364420539PKHD1c.9683C>G (p.Ser3228Ter)
c.9554C>G (p.Ser3185Ter)
c.9545C>G (p.Ser3182Ter)
c.9041C>G (p.Ser3014Ter)
c.8972C>G (p.Ser2991Ter)
c.3758C>G (p.Ser1253Ter)
c.9608C>G (p.Ser3203Ter)
c.9488C>G (p.Ser3163Ter)
c.9419C>G (p.Ser3140Ter)
c.7823C>G (p.Ser2608Ter)
n.9959C>G
6g.51747933G=CA1628502115PKHD1c.9683C= (p.Ser3228=)
c.9554C= (p.Ser3185=)
c.9545C= (p.Ser3182=)
c.9041C= (p.Ser3014=)
c.8972C= (p.Ser2991=)
c.3758C= (p.Ser1253=)
c.9608C= (p.Ser3203=)
c.9488C= (p.Ser3163=)
c.9419C= (p.Ser3140=)
c.7823C= (p.Ser2608=)
n.9959C=
6g.51747933G>TCA16041032PKHD1c.9683C>A (p.Ser3228Ter)
c.9554C>A (p.Ser3185Ter)
c.9545C>A (p.Ser3182Ter)
c.9041C>A (p.Ser3014Ter)
c.8972C>A (p.Ser2991Ter)
c.3758C>A (p.Ser1253Ter)
c.9608C>A (p.Ser3203Ter)
c.9488C>A (p.Ser3163Ter)
c.9419C>A (p.Ser3140Ter)
c.7823C>A (p.Ser2608Ter)
n.9959C>A
 ClinVar dbSNP gnomAD v4
6g.51747934A>CCA364420540PKHD1c.9682T>G (p.Ser3228Ala)
c.9553T>G (p.Ser3185Ala)
c.9544T>G (p.Ser3182Ala)
c.9040T>G (p.Ser3014Ala)
c.8971T>G (p.Ser2991Ala)
c.3757T>G (p.Ser1253Ala)
c.9607T>G (p.Ser3203Ala)
c.9487T>G (p.Ser3163Ala)
c.9418T>G (p.Ser3140Ala)
c.7822T>G (p.Ser2608Ala)
n.9958T>G
6g.51747934A>GCA364420541PKHD1c.9682T>C (p.Ser3228Pro)
c.9553T>C (p.Ser3185Pro)
c.9544T>C (p.Ser3182Pro)
c.9040T>C (p.Ser3014Pro)
c.8971T>C (p.Ser2991Pro)
c.3757T>C (p.Ser1253Pro)
c.9607T>C (p.Ser3203Pro)
c.9487T>C (p.Ser3163Pro)
c.9418T>C (p.Ser3140Pro)
c.7822T>C (p.Ser2608Pro)
n.9958T>C
6g.51747934A>TCA364420542PKHD1c.9682T>A (p.Ser3228Thr)
c.9553T>A (p.Ser3185Thr)
c.9544T>A (p.Ser3182Thr)
c.9040T>A (p.Ser3014Thr)
c.8971T>A (p.Ser2991Thr)
c.3757T>A (p.Ser1253Thr)
c.9607T>A (p.Ser3203Thr)
c.9487T>A (p.Ser3163Thr)
c.9418T>A (p.Ser3140Thr)
c.7822T>A (p.Ser2608Thr)
n.9958T>A
6g.51747935T>ACA450613599PKHD1c.9681A>T (p.Thr3227=)
c.9552A>T (p.Thr3184=)
c.9543A>T (p.Thr3181=)
c.9039A>T (p.Thr3013=)
c.8970A>T (p.Thr2990=)
c.3756A>T (p.Thr1252=)
c.9606A>T (p.Thr3202=)
c.9486A>T (p.Thr3162=)
c.9417A>T (p.Thr3139=)
c.7821A>T (p.Thr2607=)
n.9957A>T
6g.51747935T>CCA450613597PKHD1c.9681A>G (p.Thr3227=)
c.9552A>G (p.Thr3184=)
c.9543A>G (p.Thr3181=)
c.9039A>G (p.Thr3013=)
c.8970A>G (p.Thr2990=)
c.3756A>G (p.Thr1252=)
c.9606A>G (p.Thr3202=)
c.9486A>G (p.Thr3162=)
c.9417A>G (p.Thr3139=)
c.7821A>G (p.Thr2607=)
n.9957A>G
 dbSNP
6g.51747935T>GCA450613598PKHD1c.9681A>C (p.Thr3227=)
c.9552A>C (p.Thr3184=)
c.9543A>C (p.Thr3181=)
c.9039A>C (p.Thr3013=)
c.8970A>C (p.Thr2990=)
c.3756A>C (p.Thr1252=)
c.9606A>C (p.Thr3202=)
c.9486A>C (p.Thr3162=)
c.9417A>C (p.Thr3139=)
c.7821A>C (p.Thr2607=)
n.9957A>C
6g.51747935T=CA1628502121PKHD1c.9681A= (p.Thr3227=)
c.9552A= (p.Thr3184=)
c.9543A= (p.Thr3181=)
c.9039A= (p.Thr3013=)
c.8970A= (p.Thr2990=)
c.3756A= (p.Thr1252=)
c.9606A= (p.Thr3202=)
c.9486A= (p.Thr3162=)
c.9417A= (p.Thr3139=)
c.7821A= (p.Thr2607=)
n.9957A=
6g.51747936G>ACA364420543PKHD1c.9680C>T (p.Thr3227Ile)
c.9551C>T (p.Thr3184Ile)
c.9542C>T (p.Thr3181Ile)
c.9038C>T (p.Thr3013Ile)
c.8969C>T (p.Thr2990Ile)
c.3755C>T (p.Thr1252Ile)
c.9605C>T (p.Thr3202Ile)
c.9485C>T (p.Thr3162Ile)
c.9416C>T (p.Thr3139Ile)
c.7820C>T (p.Thr2607Ile)
n.9956C>T
6g.51747936G>CCA364420544PKHD1c.9680C>G (p.Thr3227Arg)
c.9551C>G (p.Thr3184Arg)
c.9542C>G (p.Thr3181Arg)
c.9038C>G (p.Thr3013Arg)
c.8969C>G (p.Thr2990Arg)
c.3755C>G (p.Thr1252Arg)
c.9605C>G (p.Thr3202Arg)
c.9485C>G (p.Thr3162Arg)
c.9416C>G (p.Thr3139Arg)
c.7820C>G (p.Thr2607Arg)
n.9956C>G
6g.51747936G>TCA364420545PKHD1c.9680C>A (p.Thr3227Lys)
c.9551C>A (p.Thr3184Lys)
c.9542C>A (p.Thr3181Lys)
c.9038C>A (p.Thr3013Lys)
c.8969C>A (p.Thr2990Lys)
c.3755C>A (p.Thr1252Lys)
c.9605C>A (p.Thr3202Lys)
c.9485C>A (p.Thr3162Lys)
c.9416C>A (p.Thr3139Lys)
c.7820C>A (p.Thr2607Lys)
n.9956C>A
6g.51747937T>ACA364420546PKHD1c.9679A>T (p.Thr3227Ser)
c.9550A>T (p.Thr3184Ser)
c.9541A>T (p.Thr3181Ser)
c.9037A>T (p.Thr3013Ser)
c.8968A>T (p.Thr2990Ser)
c.3754A>T (p.Thr1252Ser)
c.9604A>T (p.Thr3202Ser)
c.9484A>T (p.Thr3162Ser)
c.9415A>T (p.Thr3139Ser)
c.7819A>T (p.Thr2607Ser)
n.9955A>T
6g.51747937T>CCA364420547PKHD1c.9679A>G (p.Thr3227Ala)
c.9550A>G (p.Thr3184Ala)
c.9541A>G (p.Thr3181Ala)
c.9037A>G (p.Thr3013Ala)
c.8968A>G (p.Thr2990Ala)
c.3754A>G (p.Thr1252Ala)
c.9604A>G (p.Thr3202Ala)
c.9484A>G (p.Thr3162Ala)
c.9415A>G (p.Thr3139Ala)
c.7819A>G (p.Thr2607Ala)
n.9955A>G
6g.51747937T>GCA364420548PKHD1c.9679A>C (p.Thr3227Pro)
c.9550A>C (p.Thr3184Pro)
c.9541A>C (p.Thr3181Pro)
c.9037A>C (p.Thr3013Pro)
c.8968A>C (p.Thr2990Pro)
c.3754A>C (p.Thr1252Pro)
c.9604A>C (p.Thr3202Pro)
c.9484A>C (p.Thr3162Pro)
c.9415A>C (p.Thr3139Pro)
c.7819A>C (p.Thr2607Pro)
n.9955A>C
6g.51747938C>ACA364420550PKHD1c.9678G>T (p.Leu3226Phe)
c.9549G>T (p.Leu3183Phe)
c.9540G>T (p.Leu3180Phe)
c.9036G>T (p.Leu3012Phe)
c.8967G>T (p.Leu2989Phe)
c.3753G>T (p.Leu1251Phe)
c.9603G>T (p.Leu3201Phe)
c.9483G>T (p.Leu3161Phe)
c.9414G>T (p.Leu3138Phe)
c.7818G>T (p.Leu2606Phe)
n.9954G>T
 dbSNP gnomAD v4
6g.51747938C=CA1628502129PKHD1c.9678G= (p.Leu3226=)
c.9549G= (p.Leu3183=)
c.9540G= (p.Leu3180=)
c.9036G= (p.Leu3012=)
c.8967G= (p.Leu2989=)
c.3753G= (p.Leu1251=)
c.9603G= (p.Leu3201=)
c.9483G= (p.Leu3161=)
c.9414G= (p.Leu3138=)
c.7818G= (p.Leu2606=)
n.9954G=
6g.51747938C>GCA364420549PKHD1c.9678G>C (p.Leu3226Phe)
c.9549G>C (p.Leu3183Phe)
c.9540G>C (p.Leu3180Phe)
c.9036G>C (p.Leu3012Phe)
c.8967G>C (p.Leu2989Phe)
c.3753G>C (p.Leu1251Phe)
c.9603G>C (p.Leu3201Phe)
c.9483G>C (p.Leu3161Phe)
c.9414G>C (p.Leu3138Phe)
c.7818G>C (p.Leu2606Phe)
n.9954G>C
6g.51747938C>TCA3851352PKHD1c.9678G>A (p.Leu3226=)
c.9549G>A (p.Leu3183=)
c.9540G>A (p.Leu3180=)
c.9036G>A (p.Leu3012=)
c.8967G>A (p.Leu2989=)
c.3753G>A (p.Leu1251=)
c.9603G>A (p.Leu3201=)
c.9483G>A (p.Leu3161=)
c.9414G>A (p.Leu3138=)
c.7818G>A (p.Leu2606=)
n.9954G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51747939A>CCA364420554PKHD1c.9677T>G (p.Leu3226Trp)
c.9548T>G (p.Leu3183Trp)
c.9539T>G (p.Leu3180Trp)
c.9035T>G (p.Leu3012Trp)
c.8966T>G (p.Leu2989Trp)
c.3752T>G (p.Leu1251Trp)
c.9602T>G (p.Leu3201Trp)
c.9482T>G (p.Leu3161Trp)
c.9413T>G (p.Leu3138Trp)
c.7817T>G (p.Leu2606Trp)
n.9953T>G
6g.51747939A>GCA364420551PKHD1c.9677T>C (p.Leu3226Ser)
c.9548T>C (p.Leu3183Ser)
c.9539T>C (p.Leu3180Ser)
c.9035T>C (p.Leu3012Ser)
c.8966T>C (p.Leu2989Ser)
c.3752T>C (p.Leu1251Ser)
c.9602T>C (p.Leu3201Ser)
c.9482T>C (p.Leu3161Ser)
c.9413T>C (p.Leu3138Ser)
c.7817T>C (p.Leu2606Ser)
n.9953T>C
6g.51747939A>TCA364420552PKHD1c.9677T>A (p.Leu3226Ter)
c.9548T>A (p.Leu3183Ter)
c.9539T>A (p.Leu3180Ter)
c.9035T>A (p.Leu3012Ter)
c.8966T>A (p.Leu2989Ter)
c.3752T>A (p.Leu1251Ter)
c.9602T>A (p.Leu3201Ter)
c.9482T>A (p.Leu3161Ter)
c.9413T>A (p.Leu3138Ter)
c.7817T>A (p.Leu2606Ter)
n.9953T>A
6g.51747940A=CA1628502142PKHD1c.9676T= (p.Leu3226=)
c.9547T= (p.Leu3183=)
c.9538T= (p.Leu3180=)
c.9034T= (p.Leu3012=)
c.8965T= (p.Leu2989=)
c.3751T= (p.Leu1251=)
c.9601T= (p.Leu3201=)
c.9481T= (p.Leu3161=)
c.9412T= (p.Leu3138=)
c.7816T= (p.Leu2606=)
n.9952T=
6g.51747940A>CCA364420556PKHD1c.9676T>G (p.Leu3226Val)
c.9547T>G (p.Leu3183Val)
c.9538T>G (p.Leu3180Val)
c.9034T>G (p.Leu3012Val)
c.8965T>G (p.Leu2989Val)
c.3751T>G (p.Leu1251Val)
c.9601T>G (p.Leu3201Val)
c.9481T>G (p.Leu3161Val)
c.9412T>G (p.Leu3138Val)
c.7816T>G (p.Leu2606Val)
n.9952T>G
6g.51747940A>GCA138895924PKHD1c.9676T>C (p.Leu3226=)
c.9547T>C (p.Leu3183=)
c.9538T>C (p.Leu3180=)
c.9034T>C (p.Leu3012=)
c.8965T>C (p.Leu2989=)
c.3751T>C (p.Leu1251=)
c.9601T>C (p.Leu3201=)
c.9481T>C (p.Leu3161=)
c.9412T>C (p.Leu3138=)
c.7816T>C (p.Leu2606=)
n.9952T>C
 dbSNP gnomAD v4
6g.51747940A>TCA364420557PKHD1c.9676T>A (p.Leu3226Met)
c.9547T>A (p.Leu3183Met)
c.9538T>A (p.Leu3180Met)
c.9034T>A (p.Leu3012Met)
c.8965T>A (p.Leu2989Met)
c.3751T>A (p.Leu1251Met)
c.9601T>A (p.Leu3201Met)
c.9481T>A (p.Leu3161Met)
c.9412T>A (p.Leu3138Met)
c.7816T>A (p.Leu2606Met)
n.9952T>A
6g.51747941G>ACA450613605PKHD1c.9675C>T (p.Asn3225=)
c.9546C>T (p.Asn3182=)
c.9537C>T (p.Asn3179=)
c.9033C>T (p.Asn3011=)
c.8964C>T (p.Asn2988=)
c.3750C>T (p.Asn1250=)
c.9600C>T (p.Asn3200=)
c.9480C>T (p.Asn3160=)
c.9411C>T (p.Asn3137=)
c.7815C>T (p.Asn2605=)
n.9951C>T
6g.51747941G>CCA364420558PKHD1c.9675C>G (p.Asn3225Lys)
c.9546C>G (p.Asn3182Lys)
c.9537C>G (p.Asn3179Lys)
c.9033C>G (p.Asn3011Lys)
c.8964C>G (p.Asn2988Lys)
c.3750C>G (p.Asn1250Lys)
c.9600C>G (p.Asn3200Lys)
c.9480C>G (p.Asn3160Lys)
c.9411C>G (p.Asn3137Lys)
c.7815C>G (p.Asn2605Lys)
n.9951C>G
 dbSNP gnomAD v3 gnomAD v4
6g.51747941G=CA1628502146PKHD1c.9675C= (p.Asn3225=)
c.9546C= (p.Asn3182=)
c.9537C= (p.Asn3179=)
c.9033C= (p.Asn3011=)
c.8964C= (p.Asn2988=)
c.3750C= (p.Asn1250=)
c.9600C= (p.Asn3200=)
c.9480C= (p.Asn3160=)
c.9411C= (p.Asn3137=)
c.7815C= (p.Asn2605=)
n.9951C=
6g.51747941G>TCA364420559PKHD1c.9675C>A (p.Asn3225Lys)
c.9546C>A (p.Asn3182Lys)
c.9537C>A (p.Asn3179Lys)
c.9033C>A (p.Asn3011Lys)
c.8964C>A (p.Asn2988Lys)
c.3750C>A (p.Asn1250Lys)
c.9600C>A (p.Asn3200Lys)
c.9480C>A (p.Asn3160Lys)
c.9411C>A (p.Asn3137Lys)
c.7815C>A (p.Asn2605Lys)
n.9951C>A
6g.51747942T>ACA364420560PKHD1c.9674A>T (p.Asn3225Ile)
c.9545A>T (p.Asn3182Ile)
c.9536A>T (p.Asn3179Ile)
c.9032A>T (p.Asn3011Ile)
c.8963A>T (p.Asn2988Ile)
c.3749A>T (p.Asn1250Ile)
c.9599A>T (p.Asn3200Ile)
c.9479A>T (p.Asn3160Ile)
c.9410A>T (p.Asn3137Ile)
c.7814A>T (p.Asn2605Ile)
n.9950A>T
6g.51747942T>CCA364420561PKHD1c.9674A>G (p.Asn3225Ser)
c.9545A>G (p.Asn3182Ser)
c.9536A>G (p.Asn3179Ser)
c.9032A>G (p.Asn3011Ser)
c.8963A>G (p.Asn2988Ser)
c.3749A>G (p.Asn1250Ser)
c.9599A>G (p.Asn3200Ser)
c.9479A>G (p.Asn3160Ser)
c.9410A>G (p.Asn3137Ser)
c.7814A>G (p.Asn2605Ser)
n.9950A>G
6g.51747942T>GCA364420562PKHD1c.9674A>C (p.Asn3225Thr)
c.9545A>C (p.Asn3182Thr)
c.9536A>C (p.Asn3179Thr)
c.9032A>C (p.Asn3011Thr)
c.8963A>C (p.Asn2988Thr)
c.3749A>C (p.Asn1250Thr)
c.9599A>C (p.Asn3200Thr)
c.9479A>C (p.Asn3160Thr)
c.9410A>C (p.Asn3137Thr)
c.7814A>C (p.Asn2605Thr)
n.9950A>C
6g.51747943T>ACA364420563PKHD1c.9673A>T (p.Asn3225Tyr)
c.9544A>T (p.Asn3182Tyr)
c.9535A>T (p.Asn3179Tyr)
c.9031A>T (p.Asn3011Tyr)
c.8962A>T (p.Asn2988Tyr)
c.3748A>T (p.Asn1250Tyr)
c.9598A>T (p.Asn3200Tyr)
c.9478A>T (p.Asn3160Tyr)
c.9409A>T (p.Asn3137Tyr)
c.7813A>T (p.Asn2605Tyr)
n.9949A>T
6g.51747943T>CCA364420564PKHD1c.9673A>G (p.Asn3225Asp)
c.9544A>G (p.Asn3182Asp)
c.9535A>G (p.Asn3179Asp)
c.9031A>G (p.Asn3011Asp)
c.8962A>G (p.Asn2988Asp)
c.3748A>G (p.Asn1250Asp)
c.9598A>G (p.Asn3200Asp)
c.9478A>G (p.Asn3160Asp)
c.9409A>G (p.Asn3137Asp)
c.7813A>G (p.Asn2605Asp)
n.9949A>G
 dbSNP gnomAD v3 gnomAD v4
6g.51747943T>GCA364420565PKHD1c.9673A>C (p.Asn3225His)
c.9544A>C (p.Asn3182His)
c.9535A>C (p.Asn3179His)
c.9031A>C (p.Asn3011His)
c.8962A>C (p.Asn2988His)
c.3748A>C (p.Asn1250His)
c.9598A>C (p.Asn3200His)
c.9478A>C (p.Asn3160His)
c.9409A>C (p.Asn3137His)
c.7813A>C (p.Asn2605His)
n.9949A>C
6g.51747943T=CA1628502150PKHD1c.9673A= (p.Asn3225=)
c.9544A= (p.Asn3182=)
c.9535A= (p.Asn3179=)
c.9031A= (p.Asn3011=)
c.8962A= (p.Asn2988=)
c.3748A= (p.Asn1250=)
c.9598A= (p.Asn3200=)
c.9478A= (p.Asn3160=)
c.9409A= (p.Asn3137=)
c.7813A= (p.Asn2605=)
n.9949A=
6g.51747944G>ACA450613607PKHD1c.9672C>T (p.Ala3224=)
c.9543C>T (p.Ala3181=)
c.9534C>T (p.Ala3178=)
c.9030C>T (p.Ala3010=)
c.8961C>T (p.Ala2987=)
c.3747C>T (p.Ala1249=)
c.9597C>T (p.Ala3199=)
c.9477C>T (p.Ala3159=)
c.9408C>T (p.Ala3136=)
c.7812C>T (p.Ala2604=)
n.9948C>T
6g.51747944G>CCA450613609PKHD1c.9672C>G (p.Ala3224=)
c.9543C>G (p.Ala3181=)
c.9534C>G (p.Ala3178=)
c.9030C>G (p.Ala3010=)
c.8961C>G (p.Ala2987=)
c.3747C>G (p.Ala1249=)
c.9597C>G (p.Ala3199=)
c.9477C>G (p.Ala3159=)
c.9408C>G (p.Ala3136=)
c.7812C>G (p.Ala2604=)
n.9948C>G
6g.51747944G>TCA450613610PKHD1c.9672C>A (p.Ala3224=)
c.9543C>A (p.Ala3181=)
c.9534C>A (p.Ala3178=)
c.9030C>A (p.Ala3010=)
c.8961C>A (p.Ala2987=)
c.3747C>A (p.Ala1249=)
c.9597C>A (p.Ala3199=)
c.9477C>A (p.Ala3159=)
c.9408C>A (p.Ala3136=)
c.7812C>A (p.Ala2604=)
n.9948C>A
 COSMIC
6g.51747945G>ACA364420567PKHD1c.9671C>T (p.Ala3224Val)
c.9542C>T (p.Ala3181Val)
c.9533C>T (p.Ala3178Val)
c.9029C>T (p.Ala3010Val)
c.8960C>T (p.Ala2987Val)
c.3746C>T (p.Ala1249Val)
c.9596C>T (p.Ala3199Val)
c.9476C>T (p.Ala3159Val)
c.9407C>T (p.Ala3136Val)
c.7811C>T (p.Ala2604Val)
n.9947C>T
6g.51747945G>CCA364420568PKHD1c.9671C>G (p.Ala3224Gly)
c.9542C>G (p.Ala3181Gly)
c.9533C>G (p.Ala3178Gly)
c.9029C>G (p.Ala3010Gly)
c.8960C>G (p.Ala2987Gly)
c.3746C>G (p.Ala1249Gly)
c.9596C>G (p.Ala3199Gly)
c.9476C>G (p.Ala3159Gly)
c.9407C>G (p.Ala3136Gly)
c.7811C>G (p.Ala2604Gly)
n.9947C>G
6g.51747945G>TCA364420566PKHD1c.9671C>A (p.Ala3224Asp)
c.9542C>A (p.Ala3181Asp)
c.9533C>A (p.Ala3178Asp)
c.9029C>A (p.Ala3010Asp)
c.8960C>A (p.Ala2987Asp)
c.3746C>A (p.Ala1249Asp)
c.9596C>A (p.Ala3199Asp)
c.9476C>A (p.Ala3159Asp)
c.9407C>A (p.Ala3136Asp)
c.7811C>A (p.Ala2604Asp)
n.9947C>A
 COSMIC COSMIC
6g.51747946C>ACA364420569PKHD1c.9670G>T (p.Ala3224Ser)
c.9541G>T (p.Ala3181Ser)
c.9532G>T (p.Ala3178Ser)
c.9028G>T (p.Ala3010Ser)
c.8959G>T (p.Ala2987Ser)
c.3745G>T (p.Ala1249Ser)
c.9595G>T (p.Ala3199Ser)
c.9475G>T (p.Ala3159Ser)
c.9406G>T (p.Ala3136Ser)
c.7810G>T (p.Ala2604Ser)
n.9946G>T
6g.51747946C>GCA364420570PKHD1c.9670G>C (p.Ala3224Pro)
c.9541G>C (p.Ala3181Pro)
c.9532G>C (p.Ala3178Pro)
c.9028G>C (p.Ala3010Pro)
c.8959G>C (p.Ala2987Pro)
c.3745G>C (p.Ala1249Pro)
c.9595G>C (p.Ala3199Pro)
c.9475G>C (p.Ala3159Pro)
c.9406G>C (p.Ala3136Pro)
c.7810G>C (p.Ala2604Pro)
n.9946G>C
6g.51747946C>TCA364420571PKHD1c.9670G>A (p.Ala3224Thr)
c.9541G>A (p.Ala3181Thr)
c.9532G>A (p.Ala3178Thr)
c.9028G>A (p.Ala3010Thr)
c.8959G>A (p.Ala2987Thr)
c.3745G>A (p.Ala1249Thr)
c.9595G>A (p.Ala3199Thr)
c.9475G>A (p.Ala3159Thr)
c.9406G>A (p.Ala3136Thr)
c.7810G>A (p.Ala2604Thr)
n.9946G>A
 COSMIC
6g.51747947T>ACA450613614PKHD1c.9669A>T (p.Ser3223=)
c.9540A>T (p.Ser3180=)
c.9531A>T (p.Ser3177=)
c.9027A>T (p.Ser3009=)
c.8958A>T (p.Ser2986=)
c.3744A>T (p.Ser1248=)
c.9594A>T (p.Ser3198=)
c.9474A>T (p.Ser3158=)
c.9405A>T (p.Ser3135=)
c.7809A>T (p.Ser2603=)
n.9945A>T
6g.51747947T>CCA450613615PKHD1c.9669A>G (p.Ser3223=)
c.9540A>G (p.Ser3180=)
c.9531A>G (p.Ser3177=)
c.9027A>G (p.Ser3009=)
c.8958A>G (p.Ser2986=)
c.3744A>G (p.Ser1248=)
c.9594A>G (p.Ser3198=)
c.9474A>G (p.Ser3158=)
c.9405A>G (p.Ser3135=)
c.7809A>G (p.Ser2603=)
n.9945A>G
6g.51747947T>GCA450613616PKHD1c.9669A>C (p.Ser3223=)
c.9540A>C (p.Ser3180=)
c.9531A>C (p.Ser3177=)
c.9027A>C (p.Ser3009=)
c.8958A>C (p.Ser2986=)
c.3744A>C (p.Ser1248=)
c.9594A>C (p.Ser3198=)
c.9474A>C (p.Ser3158=)
c.9405A>C (p.Ser3135=)
c.7809A>C (p.Ser2603=)
n.9945A>C
 ClinVar dbSNP
6g.51747948G>ACA3851353PKHD1c.9668C>T (p.Ser3223Leu)
c.9539C>T (p.Ser3180Leu)
c.9530C>T (p.Ser3177Leu)
c.9026C>T (p.Ser3009Leu)
c.8957C>T (p.Ser2986Leu)
c.3743C>T (p.Ser1248Leu)
c.9593C>T (p.Ser3198Leu)
c.9473C>T (p.Ser3158Leu)
c.9404C>T (p.Ser3135Leu)
c.7808C>T (p.Ser2603Leu)
n.9944C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51747948G>CCA364420572PKHD1c.9668C>G (p.Ser3223Ter)
c.9539C>G (p.Ser3180Ter)
c.9530C>G (p.Ser3177Ter)
c.9026C>G (p.Ser3009Ter)
c.8957C>G (p.Ser2986Ter)
c.3743C>G (p.Ser1248Ter)
c.9593C>G (p.Ser3198Ter)
c.9473C>G (p.Ser3158Ter)
c.9404C>G (p.Ser3135Ter)
c.7808C>G (p.Ser2603Ter)
n.9944C>G
6g.51747948G=CA1628502161PKHD1c.9668C= (p.Ser3223=)
c.9539C= (p.Ser3180=)
c.9530C= (p.Ser3177=)
c.9026C= (p.Ser3009=)
c.8957C= (p.Ser2986=)
c.3743C= (p.Ser1248=)
c.9593C= (p.Ser3198=)
c.9473C= (p.Ser3158=)
c.9404C= (p.Ser3135=)
c.7808C= (p.Ser2603=)
n.9944C=
6g.51747948G>TCA364420573PKHD1c.9668C>A (p.Ser3223Ter)
c.9539C>A (p.Ser3180Ter)
c.9530C>A (p.Ser3177Ter)
c.9026C>A (p.Ser3009Ter)
c.8957C>A (p.Ser2986Ter)
c.3743C>A (p.Ser1248Ter)
c.9593C>A (p.Ser3198Ter)
c.9473C>A (p.Ser3158Ter)
c.9404C>A (p.Ser3135Ter)
c.7808C>A (p.Ser2603Ter)
n.9944C>A
 COSMIC COSMIC
6g.51747949A=CA1628502164PKHD1c.9667T= (p.Ser3223=)
c.9538T= (p.Ser3180=)
c.9529T= (p.Ser3177=)
c.9025T= (p.Ser3009=)
c.8956T= (p.Ser2986=)
c.3742T= (p.Ser1248=)
c.9592T= (p.Ser3198=)
c.9472T= (p.Ser3158=)
c.9403T= (p.Ser3135=)
c.7807T= (p.Ser2603=)
n.9943T=
6g.51747949A>CCA364420574PKHD1c.9667T>G (p.Ser3223Ala)
c.9538T>G (p.Ser3180Ala)
c.9529T>G (p.Ser3177Ala)
c.9025T>G (p.Ser3009Ala)
c.8956T>G (p.Ser2986Ala)
c.3742T>G (p.Ser1248Ala)
c.9592T>G (p.Ser3198Ala)
c.9472T>G (p.Ser3158Ala)
c.9403T>G (p.Ser3135Ala)
c.7807T>G (p.Ser2603Ala)
n.9943T>G
6g.51747949A>GCA364420576PKHD1c.9667T>C (p.Ser3223Pro)
c.9538T>C (p.Ser3180Pro)
c.9529T>C (p.Ser3177Pro)
c.9025T>C (p.Ser3009Pro)
c.8956T>C (p.Ser2986Pro)
c.3742T>C (p.Ser1248Pro)
c.9592T>C (p.Ser3198Pro)
c.9472T>C (p.Ser3158Pro)
c.9403T>C (p.Ser3135Pro)
c.7807T>C (p.Ser2603Pro)
n.9943T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51747949A>TCA364420575PKHD1c.9667T>A (p.Ser3223Thr)
c.9538T>A (p.Ser3180Thr)
c.9529T>A (p.Ser3177Thr)
c.9025T>A (p.Ser3009Thr)
c.8956T>A (p.Ser2986Thr)
c.3742T>A (p.Ser1248Thr)
c.9592T>A (p.Ser3198Thr)
c.9472T>A (p.Ser3158Thr)
c.9403T>A (p.Ser3135Thr)
c.7807T>A (p.Ser2603Thr)
n.9943T>A
6g.51747950G>ACA450613620PKHD1c.9666C>T (p.His3222=)
c.9537C>T (p.His3179=)
c.9528C>T (p.His3176=)
c.9024C>T (p.His3008=)
c.8955C>T (p.His2985=)
c.3741C>T (p.His1247=)
c.9591C>T (p.His3197=)
c.9471C>T (p.His3157=)
c.9402C>T (p.His3134=)
c.7806C>T (p.His2602=)
n.9942C>T
6g.51747950G>CCA364420577PKHD1c.9666C>G (p.His3222Gln)
c.9537C>G (p.His3179Gln)
c.9528C>G (p.His3176Gln)
c.9024C>G (p.His3008Gln)
c.8955C>G (p.His2985Gln)
c.3741C>G (p.His1247Gln)
c.9591C>G (p.His3197Gln)
c.9471C>G (p.His3157Gln)
c.9402C>G (p.His3134Gln)
c.7806C>G (p.His2602Gln)
n.9942C>G
6g.51747950G>TCA364420578PKHD1c.9666C>A (p.His3222Gln)
c.9537C>A (p.His3179Gln)
c.9528C>A (p.His3176Gln)
c.9024C>A (p.His3008Gln)
c.8955C>A (p.His2985Gln)
c.3741C>A (p.His1247Gln)
c.9591C>A (p.His3197Gln)
c.9471C>A (p.His3157Gln)
c.9402C>A (p.His3134Gln)
c.7806C>A (p.His2602Gln)
n.9942C>A
6g.51747951T>ACA364420579PKHD1c.9665A>T (p.His3222Leu)
c.9536A>T (p.His3179Leu)
c.9527A>T (p.His3176Leu)
c.9023A>T (p.His3008Leu)
c.8954A>T (p.His2985Leu)
c.3740A>T (p.His1247Leu)
c.9590A>T (p.His3197Leu)
c.9470A>T (p.His3157Leu)
c.9401A>T (p.His3134Leu)
c.7805A>T (p.His2602Leu)
n.9941A>T
6g.51747951T>CCA3851354PKHD1c.9665A>G (p.His3222Arg)
c.9536A>G (p.His3179Arg)
c.9527A>G (p.His3176Arg)
c.9023A>G (p.His3008Arg)
c.8954A>G (p.His2985Arg)
c.3740A>G (p.His1247Arg)
c.9590A>G (p.His3197Arg)
c.9470A>G (p.His3157Arg)
c.9401A>G (p.His3134Arg)
c.7805A>G (p.His2602Arg)
n.9941A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51747951T>GCA364420580PKHD1c.9665A>C (p.His3222Pro)
c.9536A>C (p.His3179Pro)
c.9527A>C (p.His3176Pro)
c.9023A>C (p.His3008Pro)
c.8954A>C (p.His2985Pro)
c.3740A>C (p.His1247Pro)
c.9590A>C (p.His3197Pro)
c.9470A>C (p.His3157Pro)
c.9401A>C (p.His3134Pro)
c.7805A>C (p.His2602Pro)
n.9941A>C
 gnomAD v4
6g.51747951T=CA1628502167PKHD1c.9665A= (p.His3222=)
c.9536A= (p.His3179=)
c.9527A= (p.His3176=)
c.9023A= (p.His3008=)
c.8954A= (p.His2985=)
c.3740A= (p.His1247=)
c.9590A= (p.His3197=)
c.9470A= (p.His3157=)
c.9401A= (p.His3134=)
c.7805A= (p.His2602=)
n.9941A=
6g.51747952G>ACA364420582PKHD1c.9664C>T (p.His3222Tyr)
c.9535C>T (p.His3179Tyr)
c.9526C>T (p.His3176Tyr)
c.9022C>T (p.His3008Tyr)
c.8953C>T (p.His2985Tyr)
c.3739C>T (p.His1247Tyr)
c.9589C>T (p.His3197Tyr)
c.9469C>T (p.His3157Tyr)
c.9400C>T (p.His3134Tyr)
c.7804C>T (p.His2602Tyr)
n.9940C>T
 gnomAD v4
6g.51747952G>CCA364420583PKHD1c.9664C>G (p.His3222Asp)
c.9535C>G (p.His3179Asp)
c.9526C>G (p.His3176Asp)
c.9022C>G (p.His3008Asp)
c.8953C>G (p.His2985Asp)
c.3739C>G (p.His1247Asp)
c.9589C>G (p.His3197Asp)
c.9469C>G (p.His3157Asp)
c.9400C>G (p.His3134Asp)
c.7804C>G (p.His2602Asp)
n.9940C>G
6g.51747952G>TCA364420581PKHD1c.9664C>A (p.His3222Asn)
c.9535C>A (p.His3179Asn)
c.9526C>A (p.His3176Asn)
c.9022C>A (p.His3008Asn)
c.8953C>A (p.His2985Asn)
c.3739C>A (p.His1247Asn)
c.9589C>A (p.His3197Asn)
c.9469C>A (p.His3157Asn)
c.9400C>A (p.His3134Asn)
c.7804C>A (p.His2602Asn)
n.9940C>A
6g.51747952_51747953insGAGGAGCA2679078629PKHD1c.9664_9665insTCCTCC (p.Pro3221_His3222insLeuLeu)
c.9535_9536insTCCTCC (p.Pro3178_His3179insLeuLeu)
c.9526_9527insTCCTCC (p.Pro3175_His3176insLeuLeu)
c.9022_9023insTCCTCC (p.Pro3007_His3008insLeuLeu)
c.8953_8954insTCCTCC (p.Pro2984_His2985insLeuLeu)
c.3739_3740insTCCTCC (p.Pro1246_His1247insLeuLeu)
c.9589_9590insTCCTCC (p.Pro3196_His3197insLeuLeu)
c.9469_9470insTCCTCC (p.Pro3156_His3157insLeuLeu)
c.9400_9401insTCCTCC (p.Pro3133_His3134insLeuLeu)
c.7804_7805insTCCTCC (p.Pro2601_His2602insLeuLeu)
n.9940_9941insTCCTCC
 gnomAD v4
6g.51747953C>ACA138895953PKHD1c.9663G>T (p.Pro3221=)
c.9534G>T (p.Pro3178=)
c.9525G>T (p.Pro3175=)
c.9021G>T (p.Pro3007=)
c.8952G>T (p.Pro2984=)
c.3738G>T (p.Pro1246=)
c.9588G>T (p.Pro3196=)
c.9468G>T (p.Pro3156=)
c.9399G>T (p.Pro3133=)
c.7803G>T (p.Pro2601=)
n.9939G>T
 ClinVar dbSNP gnomAD v4
6g.51747953C=CA1628502179PKHD1c.9663G= (p.Pro3221=)
c.9534G= (p.Pro3178=)
c.9525G= (p.Pro3175=)
c.9021G= (p.Pro3007=)
c.8952G= (p.Pro2984=)
c.3738G= (p.Pro1246=)
c.9588G= (p.Pro3196=)
c.9468G= (p.Pro3156=)
c.9399G= (p.Pro3133=)
c.7803G= (p.Pro2601=)
n.9939G=
6g.51747953C>GCA450613622PKHD1c.9663G>C (p.Pro3221=)
c.9534G>C (p.Pro3178=)
c.9525G>C (p.Pro3175=)
c.9021G>C (p.Pro3007=)
c.8952G>C (p.Pro2984=)
c.3738G>C (p.Pro1246=)
c.9588G>C (p.Pro3196=)
c.9468G>C (p.Pro3156=)
c.9399G>C (p.Pro3133=)
c.7803G>C (p.Pro2601=)
n.9939G>C
6g.51747953C>TCA3851355PKHD1c.9663G>A (p.Pro3221=)
c.9534G>A (p.Pro3178=)
c.9525G>A (p.Pro3175=)
c.9021G>A (p.Pro3007=)
c.8952G>A (p.Pro2984=)
c.3738G>A (p.Pro1246=)
c.9588G>A (p.Pro3196=)
c.9468G>A (p.Pro3156=)
c.9399G>A (p.Pro3133=)
c.7803G>A (p.Pro2601=)
n.9939G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51747953_51747954insCAAGATCA2679078630PKHD1c.9662_9663insATCTTG (p.Pro3221_His3222insSerTrp)
c.9533_9534insATCTTG (p.Pro3178_His3179insSerTrp)
c.9524_9525insATCTTG (p.Pro3175_His3176insSerTrp)
c.9020_9021insATCTTG (p.Pro3007_His3008insSerTrp)
c.8951_8952insATCTTG (p.Pro2984_His2985insSerTrp)
c.3737_3738insATCTTG (p.Pro1246_His1247insSerTrp)
c.9587_9588insATCTTG (p.Pro3196_His3197insSerTrp)
c.9467_9468insATCTTG (p.Pro3156_His3157insSerTrp)
c.9398_9399insATCTTG (p.Pro3133_His3134insSerTrp)
c.7802_7803insATCTTG (p.Pro2601_His2602insSerTrp)
n.9938_9939insATCTTG
 gnomAD v4
6g.51747954G>ACA3851356PKHD1c.9662C>T (p.Pro3221Leu)
c.9533C>T (p.Pro3178Leu)
c.9524C>T (p.Pro3175Leu)
c.9020C>T (p.Pro3007Leu)
c.8951C>T (p.Pro2984Leu)
c.3737C>T (p.Pro1246Leu)
c.9587C>T (p.Pro3196Leu)
c.9467C>T (p.Pro3156Leu)
c.9398C>T (p.Pro3133Leu)
c.7802C>T (p.Pro2601Leu)
n.9938C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51747954G>CCA364420584PKHD1c.9662C>G (p.Pro3221Arg)
c.9533C>G (p.Pro3178Arg)
c.9524C>G (p.Pro3175Arg)
c.9020C>G (p.Pro3007Arg)
c.8951C>G (p.Pro2984Arg)
c.3737C>G (p.Pro1246Arg)
c.9587C>G (p.Pro3196Arg)
c.9467C>G (p.Pro3156Arg)
c.9398C>G (p.Pro3133Arg)
c.7802C>G (p.Pro2601Arg)
n.9938C>G
6g.51747954G=CA1628502193PKHD1c.9662C= (p.Pro3221=)
c.9533C= (p.Pro3178=)
c.9524C= (p.Pro3175=)
c.9020C= (p.Pro3007=)
c.8951C= (p.Pro2984=)
c.3737C= (p.Pro1246=)
c.9587C= (p.Pro3196=)
c.9467C= (p.Pro3156=)
c.9398C= (p.Pro3133=)
c.7802C= (p.Pro2601=)
n.9938C=
6g.51747954G>TCA364420585PKHD1c.9662C>A (p.Pro3221Gln)
c.9533C>A (p.Pro3178Gln)
c.9524C>A (p.Pro3175Gln)
c.9020C>A (p.Pro3007Gln)
c.8951C>A (p.Pro2984Gln)
c.3737C>A (p.Pro1246Gln)
c.9587C>A (p.Pro3196Gln)
c.9467C>A (p.Pro3156Gln)
c.9398C>A (p.Pro3133Gln)
c.7802C>A (p.Pro2601Gln)
n.9938C>A
 COSMIC COSMIC
6g.51747955G>ACA364420586PKHD1c.9661C>T (p.Pro3221Ser)
c.9532C>T (p.Pro3178Ser)
c.9523C>T (p.Pro3175Ser)
c.9019C>T (p.Pro3007Ser)
c.8950C>T (p.Pro2984Ser)
c.3736C>T (p.Pro1246Ser)
c.9586C>T (p.Pro3196Ser)
c.9466C>T (p.Pro3156Ser)
c.9397C>T (p.Pro3133Ser)
c.7801C>T (p.Pro2601Ser)
n.9937C>T
6g.51747955G>CCA364420587PKHD1c.9661C>G (p.Pro3221Ala)
c.9532C>G (p.Pro3178Ala)
c.9523C>G (p.Pro3175Ala)
c.9019C>G (p.Pro3007Ala)
c.8950C>G (p.Pro2984Ala)
c.3736C>G (p.Pro1246Ala)
c.9586C>G (p.Pro3196Ala)
c.9466C>G (p.Pro3156Ala)
c.9397C>G (p.Pro3133Ala)
c.7801C>G (p.Pro2601Ala)
n.9937C>G
6g.51747955G=CA1628502194PKHD1c.9661C= (p.Pro3221=)
c.9532C= (p.Pro3178=)
c.9523C= (p.Pro3175=)
c.9019C= (p.Pro3007=)
c.8950C= (p.Pro2984=)
c.3736C= (p.Pro1246=)
c.9586C= (p.Pro3196=)
c.9466C= (p.Pro3156=)
c.9397C= (p.Pro3133=)
c.7801C= (p.Pro2601=)
n.9937C=
6g.51747955G>TCA364420588PKHD1c.9661C>A (p.Pro3221Thr)
c.9532C>A (p.Pro3178Thr)
c.9523C>A (p.Pro3175Thr)
c.9019C>A (p.Pro3007Thr)
c.8950C>A (p.Pro2984Thr)
c.3736C>A (p.Pro1246Thr)
c.9586C>A (p.Pro3196Thr)
c.9466C>A (p.Pro3156Thr)
c.9397C>A (p.Pro3133Thr)
c.7801C>A (p.Pro2601Thr)
n.9937C>A
 dbSNP gnomAD v3 gnomAD v4
6g.51747956C>ACA364420589PKHD1c.9660G>T (p.Lys3220Asn)
c.9531G>T (p.Lys3177Asn)
c.9522G>T (p.Lys3174Asn)
c.9018G>T (p.Lys3006Asn)
c.8949G>T (p.Lys2983Asn)
c.3735G>T (p.Lys1245Asn)
c.9585G>T (p.Lys3195Asn)
c.9465G>T (p.Lys3155Asn)
c.9396G>T (p.Lys3132Asn)
c.7800G>T (p.Lys2600Asn)
n.9936G>T
6g.51747956C>GCA364420590PKHD1c.9660G>C (p.Lys3220Asn)
c.9531G>C (p.Lys3177Asn)
c.9522G>C (p.Lys3174Asn)
c.9018G>C (p.Lys3006Asn)
c.8949G>C (p.Lys2983Asn)
c.3735G>C (p.Lys1245Asn)
c.9585G>C (p.Lys3195Asn)
c.9465G>C (p.Lys3155Asn)
c.9396G>C (p.Lys3132Asn)
c.7800G>C (p.Lys2600Asn)
n.9936G>C
6g.51747956C>TCA450613626PKHD1c.9660G>A (p.Lys3220=)
c.9531G>A (p.Lys3177=)
c.9522G>A (p.Lys3174=)
c.9018G>A (p.Lys3006=)
c.8949G>A (p.Lys2983=)
c.3735G>A (p.Lys1245=)
c.9585G>A (p.Lys3195=)
c.9465G>A (p.Lys3155=)
c.9396G>A (p.Lys3132=)
c.7800G>A (p.Lys2600=)
n.9936G>A
6g.51747957T>ACA364420591PKHD1c.9659A>T (p.Lys3220Met)
c.9530A>T (p.Lys3177Met)
c.9521A>T (p.Lys3174Met)
c.9017A>T (p.Lys3006Met)
c.8948A>T (p.Lys2983Met)
c.3734A>T (p.Lys1245Met)
c.9584A>T (p.Lys3195Met)
c.9464A>T (p.Lys3155Met)
c.9395A>T (p.Lys3132Met)
c.7799A>T (p.Lys2600Met)
n.9935A>T
6g.51747957T>CCA364420592PKHD1c.9659A>G (p.Lys3220Arg)
c.9530A>G (p.Lys3177Arg)
c.9521A>G (p.Lys3174Arg)
c.9017A>G (p.Lys3006Arg)
c.8948A>G (p.Lys2983Arg)
c.3734A>G (p.Lys1245Arg)
c.9584A>G (p.Lys3195Arg)
c.9464A>G (p.Lys3155Arg)
c.9395A>G (p.Lys3132Arg)
c.7799A>G (p.Lys2600Arg)
n.9935A>G
6g.51747957T>GCA364420593PKHD1c.9659A>C (p.Lys3220Thr)
c.9530A>C (p.Lys3177Thr)
c.9521A>C (p.Lys3174Thr)
c.9017A>C (p.Lys3006Thr)
c.8948A>C (p.Lys2983Thr)
c.3734A>C (p.Lys1245Thr)
c.9584A>C (p.Lys3195Thr)
c.9464A>C (p.Lys3155Thr)
c.9395A>C (p.Lys3132Thr)
c.7799A>C (p.Lys2600Thr)
n.9935A>C
6g.51747958T>ACA364420596PKHD1c.9658A>T (p.Lys3220Ter)
c.9529A>T (p.Lys3177Ter)
c.9520A>T (p.Lys3174Ter)
c.9016A>T (p.Lys3006Ter)
c.8947A>T (p.Lys2983Ter)
c.3733A>T (p.Lys1245Ter)
c.9583A>T (p.Lys3195Ter)
c.9463A>T (p.Lys3155Ter)
c.9394A>T (p.Lys3132Ter)
c.7798A>T (p.Lys2600Ter)
n.9934A>T
6g.51747958T>CCA364420594PKHD1c.9658A>G (p.Lys3220Glu)
c.9529A>G (p.Lys3177Glu)
c.9520A>G (p.Lys3174Glu)
c.9016A>G (p.Lys3006Glu)
c.8947A>G (p.Lys2983Glu)
c.3733A>G (p.Lys1245Glu)
c.9583A>G (p.Lys3195Glu)
c.9463A>G (p.Lys3155Glu)
c.9394A>G (p.Lys3132Glu)
c.7798A>G (p.Lys2600Glu)
n.9934A>G
6g.51747958T>GCA364420595PKHD1c.9658A>C (p.Lys3220Gln)
c.9529A>C (p.Lys3177Gln)
c.9520A>C (p.Lys3174Gln)
c.9016A>C (p.Lys3006Gln)
c.8947A>C (p.Lys2983Gln)
c.3733A>C (p.Lys1245Gln)
c.9583A>C (p.Lys3195Gln)
c.9463A>C (p.Lys3155Gln)
c.9394A>C (p.Lys3132Gln)
c.7798A>C (p.Lys2600Gln)
n.9934A>C
 gnomAD v4
6g.51747959C>ACA450613629PKHD1c.9657G>T (p.Val3219=)
c.9528G>T (p.Val3176=)
c.9519G>T (p.Val3173=)
c.9015G>T (p.Val3005=)
c.8946G>T (p.Val2982=)
c.3732G>T (p.Val1244=)
c.9582G>T (p.Val3194=)
c.9462G>T (p.Val3154=)
c.9393G>T (p.Val3131=)
c.7797G>T (p.Val2599=)
n.9933G>T
6g.51747959C>GCA450613630PKHD1c.9657G>C (p.Val3219=)
c.9528G>C (p.Val3176=)
c.9519G>C (p.Val3173=)
c.9015G>C (p.Val3005=)
c.8946G>C (p.Val2982=)
c.3732G>C (p.Val1244=)
c.9582G>C (p.Val3194=)
c.9462G>C (p.Val3154=)
c.9393G>C (p.Val3131=)
c.7797G>C (p.Val2599=)
n.9933G>C
6g.51747959C>TCA450613631PKHD1c.9657G>A (p.Val3219=)
c.9528G>A (p.Val3176=)
c.9519G>A (p.Val3173=)
c.9015G>A (p.Val3005=)
c.8946G>A (p.Val2982=)
c.3732G>A (p.Val1244=)
c.9582G>A (p.Val3194=)
c.9462G>A (p.Val3154=)
c.9393G>A (p.Val3131=)
c.7797G>A (p.Val2599=)
n.9933G>A
6g.51747960_51747961delCA2580075422PKHD1c.9656_9657del (p.Val3219GlufsTer12)
c.9527_9528del (p.Val3176GlufsTer12)
c.9518_9519del (p.Val3173GlufsTer12)
c.9014_9015del (p.Val3005GlufsTer12)
c.8945_8946del (p.Val2982GlufsTer12)
c.3731_3732del (p.Val1244GlufsTer12)
c.9581_9582del (p.Val3194GlufsTer12)
c.9461_9462del (p.Val3154GlufsTer12)
c.9392_9393del (p.Val3131GlufsTer12)
c.7796_7797del (p.Val2599GlufsTer12)
n.9932_9933del
 ClinVar
6g.51747960A>CCA364420597PKHD1c.9656T>G (p.Val3219Gly)
c.9527T>G (p.Val3176Gly)
c.9518T>G (p.Val3173Gly)
c.9014T>G (p.Val3005Gly)
c.8945T>G (p.Val2982Gly)
c.3731T>G (p.Val1244Gly)
c.9581T>G (p.Val3194Gly)
c.9461T>G (p.Val3154Gly)
c.9392T>G (p.Val3131Gly)
c.7796T>G (p.Val2599Gly)
n.9932T>G
6g.51747960A>GCA364420598PKHD1c.9656T>C (p.Val3219Ala)
c.9527T>C (p.Val3176Ala)
c.9518T>C (p.Val3173Ala)
c.9014T>C (p.Val3005Ala)
c.8945T>C (p.Val2982Ala)
c.3731T>C (p.Val1244Ala)
c.9581T>C (p.Val3194Ala)
c.9461T>C (p.Val3154Ala)
c.9392T>C (p.Val3131Ala)
c.7796T>C (p.Val2599Ala)
n.9932T>C
 gnomAD v4
6g.51747960A>TCA364420599PKHD1c.9656T>A (p.Val3219Glu)
c.9527T>A (p.Val3176Glu)
c.9518T>A (p.Val3173Glu)
c.9014T>A (p.Val3005Glu)
c.8945T>A (p.Val2982Glu)
c.3731T>A (p.Val1244Glu)
c.9581T>A (p.Val3194Glu)
c.9461T>A (p.Val3154Glu)
c.9392T>A (p.Val3131Glu)
c.7796T>A (p.Val2599Glu)
n.9932T>A
6g.51747961C>ACA364420600PKHD1c.9655G>T (p.Val3219Leu)
c.9526G>T (p.Val3176Leu)
c.9517G>T (p.Val3173Leu)
c.9013G>T (p.Val3005Leu)
c.8944G>T (p.Val2982Leu)
c.3730G>T (p.Val1244Leu)
c.9580G>T (p.Val3194Leu)
c.9460G>T (p.Val3154Leu)
c.9391G>T (p.Val3131Leu)
c.7795G>T (p.Val2599Leu)
n.9931G>T
6g.51747961C=CA1628502199PKHD1c.9655G= (p.Val3219=)
c.9526G= (p.Val3176=)
c.9517G= (p.Val3173=)
c.9013G= (p.Val3005=)
c.8944G= (p.Val2982=)
c.3730G= (p.Val1244=)
c.9580G= (p.Val3194=)
c.9460G= (p.Val3154=)
c.9391G= (p.Val3131=)
c.7795G= (p.Val2599=)
n.9931G=
6g.51747961C>GCA3851357PKHD1c.9655G>C (p.Val3219Leu)
c.9526G>C (p.Val3176Leu)
c.9517G>C (p.Val3173Leu)
c.9013G>C (p.Val3005Leu)
c.8944G>C (p.Val2982Leu)
c.3730G>C (p.Val1244Leu)
c.9580G>C (p.Val3194Leu)
c.9460G>C (p.Val3154Leu)
c.9391G>C (p.Val3131Leu)
c.7795G>C (p.Val2599Leu)
n.9931G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51747961C>TCA364420601PKHD1c.9655G>A (p.Val3219Met)
c.9526G>A (p.Val3176Met)
c.9517G>A (p.Val3173Met)
c.9013G>A (p.Val3005Met)
c.8944G>A (p.Val2982Met)
c.3730G>A (p.Val1244Met)
c.9580G>A (p.Val3194Met)
c.9460G>A (p.Val3154Met)
c.9391G>A (p.Val3131Met)
c.7795G>A (p.Val2599Met)
n.9931G>A
 gnomAD v4 COSMIC COSMIC
6g.51747962T>ACA364420602PKHD1c.9654A>T (p.Lys3218Asn)
c.9525A>T (p.Lys3175Asn)
c.9516A>T (p.Lys3172Asn)
c.9012A>T (p.Lys3004Asn)
c.8943A>T (p.Lys2981Asn)
c.3729A>T (p.Lys1243Asn)
c.9579A>T (p.Lys3193Asn)
c.9459A>T (p.Lys3153Asn)
c.9390A>T (p.Lys3130Asn)
c.7794A>T (p.Lys2598Asn)
n.9930A>T
6g.51747962T>CCA450613634PKHD1c.9654A>G (p.Lys3218=)
c.9525A>G (p.Lys3175=)
c.9516A>G (p.Lys3172=)
c.9012A>G (p.Lys3004=)
c.8943A>G (p.Lys2981=)
c.3729A>G (p.Lys1243=)
c.9579A>G (p.Lys3193=)
c.9459A>G (p.Lys3153=)
c.9390A>G (p.Lys3130=)
c.7794A>G (p.Lys2598=)
n.9930A>G
6g.51747962T>GCA364420603PKHD1c.9654A>C (p.Lys3218Asn)
c.9525A>C (p.Lys3175Asn)
c.9516A>C (p.Lys3172Asn)
c.9012A>C (p.Lys3004Asn)
c.8943A>C (p.Lys2981Asn)
c.3729A>C (p.Lys1243Asn)
c.9579A>C (p.Lys3193Asn)
c.9459A>C (p.Lys3153Asn)
c.9390A>C (p.Lys3130Asn)
c.7794A>C (p.Lys2598Asn)
n.9930A>C
6g.51747963_51747964delCA2695198856PKHD1c.9653_9654del (p.Lys3218SerfsTer13)
c.9524_9525del (p.Lys3175SerfsTer13)
c.9515_9516del (p.Lys3172SerfsTer13)
c.9011_9012del (p.Lys3004SerfsTer13)
c.8942_8943del (p.Lys2981SerfsTer13)
c.3728_3729del (p.Lys1243SerfsTer13)
c.9578_9579del (p.Lys3193SerfsTer13)
c.9458_9459del (p.Lys3153SerfsTer13)
c.9389_9390del (p.Lys3130SerfsTer13)
c.7793_7794del (p.Lys2598SerfsTer13)
n.9929_9930del
 ClinVar
6g.51747963T>ACA364420604PKHD1c.9653A>T (p.Lys3218Ile)
c.9524A>T (p.Lys3175Ile)
c.9515A>T (p.Lys3172Ile)
c.9011A>T (p.Lys3004Ile)
c.8942A>T (p.Lys2981Ile)
c.3728A>T (p.Lys1243Ile)
c.9578A>T (p.Lys3193Ile)
c.9458A>T (p.Lys3153Ile)
c.9389A>T (p.Lys3130Ile)
c.7793A>T (p.Lys2598Ile)
n.9929A>T
6g.51747963T>CCA364420605PKHD1c.9653A>G (p.Lys3218Arg)
c.9524A>G (p.Lys3175Arg)
c.9515A>G (p.Lys3172Arg)
c.9011A>G (p.Lys3004Arg)
c.8942A>G (p.Lys2981Arg)
c.3728A>G (p.Lys1243Arg)
c.9578A>G (p.Lys3193Arg)
c.9458A>G (p.Lys3153Arg)
c.9389A>G (p.Lys3130Arg)
c.7793A>G (p.Lys2598Arg)
n.9929A>G
6g.51747963T>GCA364420606PKHD1c.9653A>C (p.Lys3218Thr)
c.9524A>C (p.Lys3175Thr)
c.9515A>C (p.Lys3172Thr)
c.9011A>C (p.Lys3004Thr)
c.8942A>C (p.Lys2981Thr)
c.3728A>C (p.Lys1243Thr)
c.9578A>C (p.Lys3193Thr)
c.9458A>C (p.Lys3153Thr)
c.9389A>C (p.Lys3130Thr)
c.7793A>C (p.Lys2598Thr)
n.9929A>C
6g.51747964T>ACA364420608PKHD1c.9652A>T (p.Lys3218Ter)
c.9523A>T (p.Lys3175Ter)
c.9514A>T (p.Lys3172Ter)
c.9010A>T (p.Lys3004Ter)
c.8941A>T (p.Lys2981Ter)
c.3727A>T (p.Lys1243Ter)
c.9577A>T (p.Lys3193Ter)
c.9457A>T (p.Lys3153Ter)
c.9388A>T (p.Lys3130Ter)
c.7792A>T (p.Lys2598Ter)
n.9928A>T
6g.51747964T>CCA364420609PKHD1c.9652A>G (p.Lys3218Glu)
c.9523A>G (p.Lys3175Glu)
c.9514A>G (p.Lys3172Glu)
c.9010A>G (p.Lys3004Glu)
c.8941A>G (p.Lys2981Glu)
c.3727A>G (p.Lys1243Glu)
c.9577A>G (p.Lys3193Glu)
c.9457A>G (p.Lys3153Glu)
c.9388A>G (p.Lys3130Glu)
c.7792A>G (p.Lys2598Glu)
n.9928A>G
6g.51747964T>GCA364420607PKHD1c.9652A>C (p.Lys3218Gln)
c.9523A>C (p.Lys3175Gln)
c.9514A>C (p.Lys3172Gln)
c.9010A>C (p.Lys3004Gln)
c.8941A>C (p.Lys2981Gln)
c.3727A>C (p.Lys1243Gln)
c.9577A>C (p.Lys3193Gln)
c.9457A>C (p.Lys3153Gln)
c.9388A>C (p.Lys3130Gln)
c.7792A>C (p.Lys2598Gln)
n.9928A>C
6g.51747965G>ACA450613635PKHD1c.9651C>T (p.Asp3217=)
c.9522C>T (p.Asp3174=)
c.9513C>T (p.Asp3171=)
c.9009C>T (p.Asp3003=)
c.8940C>T (p.Asp2980=)
c.3726C>T (p.Asp1242=)
c.9576C>T (p.Asp3192=)
c.9456C>T (p.Asp3152=)
c.9387C>T (p.Asp3129=)
c.7791C>T (p.Asp2597=)
n.9927C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.51747965G>CCA364420610PKHD1c.9651C>G (p.Asp3217Glu)
c.9522C>G (p.Asp3174Glu)
c.9513C>G (p.Asp3171Glu)
c.9009C>G (p.Asp3003Glu)
c.8940C>G (p.Asp2980Glu)
c.3726C>G (p.Asp1242Glu)
c.9576C>G (p.Asp3192Glu)
c.9456C>G (p.Asp3152Glu)
c.9387C>G (p.Asp3129Glu)
c.7791C>G (p.Asp2597Glu)
n.9927C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51747965G=CA1628502203PKHD1c.9651C= (p.Asp3217=)
c.9522C= (p.Asp3174=)
c.9513C= (p.Asp3171=)
c.9009C= (p.Asp3003=)
c.8940C= (p.Asp2980=)
c.3726C= (p.Asp1242=)
c.9576C= (p.Asp3192=)
c.9456C= (p.Asp3152=)
c.9387C= (p.Asp3129=)
c.7791C= (p.Asp2597=)
n.9927C=
6g.51747965G>TCA364420611PKHD1c.9651C>A (p.Asp3217Glu)
c.9522C>A (p.Asp3174Glu)
c.9513C>A (p.Asp3171Glu)
c.9009C>A (p.Asp3003Glu)
c.8940C>A (p.Asp2980Glu)
c.3726C>A (p.Asp1242Glu)
c.9576C>A (p.Asp3192Glu)
c.9456C>A (p.Asp3152Glu)
c.9387C>A (p.Asp3129Glu)
c.7791C>A (p.Asp2597Glu)
n.9927C>A
6g.51747966T>ACA364420612PKHD1c.9650A>T (p.Asp3217Val)
c.9521A>T (p.Asp3174Val)
c.9512A>T (p.Asp3171Val)
c.9008A>T (p.Asp3003Val)
c.8939A>T (p.Asp2980Val)
c.3725A>T (p.Asp1242Val)
c.9575A>T (p.Asp3192Val)
c.9455A>T (p.Asp3152Val)
c.9386A>T (p.Asp3129Val)
c.7790A>T (p.Asp2597Val)
n.9926A>T
6g.51747966T>CCA364420613PKHD1c.9650A>G (p.Asp3217Gly)
c.9521A>G (p.Asp3174Gly)
c.9512A>G (p.Asp3171Gly)
c.9008A>G (p.Asp3003Gly)
c.8939A>G (p.Asp2980Gly)
c.3725A>G (p.Asp1242Gly)
c.9575A>G (p.Asp3192Gly)
c.9455A>G (p.Asp3152Gly)
c.9386A>G (p.Asp3129Gly)
c.7790A>G (p.Asp2597Gly)
n.9926A>G
6g.51747966T>GCA364420614PKHD1c.9650A>C (p.Asp3217Ala)
c.9521A>C (p.Asp3174Ala)
c.9512A>C (p.Asp3171Ala)
c.9008A>C (p.Asp3003Ala)
c.8939A>C (p.Asp2980Ala)
c.3725A>C (p.Asp1242Ala)
c.9575A>C (p.Asp3192Ala)
c.9455A>C (p.Asp3152Ala)
c.9386A>C (p.Asp3129Ala)
c.7790A>C (p.Asp2597Ala)
n.9926A>C
6g.51747967C>ACA3851358PKHD1c.9649G>T (p.Asp3217Tyr)
c.9520G>T (p.Asp3174Tyr)
c.9511G>T (p.Asp3171Tyr)
c.9007G>T (p.Asp3003Tyr)
c.8938G>T (p.Asp2980Tyr)
c.3724G>T (p.Asp1242Tyr)
c.9574G>T (p.Asp3192Tyr)
c.9454G>T (p.Asp3152Tyr)
c.9385G>T (p.Asp3129Tyr)
c.7789G>T (p.Asp2597Tyr)
n.9925G>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.51747967C=CA1628502208PKHD1c.9649G= (p.Asp3217=)
c.9520G= (p.Asp3174=)
c.9511G= (p.Asp3171=)
c.9007G= (p.Asp3003=)
c.8938G= (p.Asp2980=)
c.3724G= (p.Asp1242=)
c.9574G= (p.Asp3192=)
c.9454G= (p.Asp3152=)
c.9385G= (p.Asp3129=)
c.7789G= (p.Asp2597=)
n.9925G=
6g.51747967C>GCA364420615PKHD1c.9649G>C (p.Asp3217His)
c.9520G>C (p.Asp3174His)
c.9511G>C (p.Asp3171His)
c.9007G>C (p.Asp3003His)
c.8938G>C (p.Asp2980His)
c.3724G>C (p.Asp1242His)
c.9574G>C (p.Asp3192His)
c.9454G>C (p.Asp3152His)
c.9385G>C (p.Asp3129His)
c.7789G>C (p.Asp2597His)
n.9925G>C
 gnomAD v4
6g.51747967C>TCA364420616PKHD1c.9649G>A (p.Asp3217Asn)
c.9520G>A (p.Asp3174Asn)
c.9511G>A (p.Asp3171Asn)
c.9007G>A (p.Asp3003Asn)
c.8938G>A (p.Asp2980Asn)
c.3724G>A (p.Asp1242Asn)
c.9574G>A (p.Asp3192Asn)
c.9454G>A (p.Asp3152Asn)
c.9385G>A (p.Asp3129Asn)
c.7789G>A (p.Asp2597Asn)
n.9925G>A
6g.51747968C>ACA364420617PKHD1c.9648G>T (p.Gln3216His)
c.9519G>T (p.Gln3173His)
c.9510G>T (p.Gln3170His)
c.9006G>T (p.Gln3002His)
c.8937G>T (p.Gln2979His)
c.3723G>T (p.Gln1241His)
c.9573G>T (p.Gln3191His)
c.9453G>T (p.Gln3151His)
c.9384G>T (p.Gln3128His)
c.7788G>T (p.Gln2596His)
n.9924G>T
6g.51747968C>GCA364420618PKHD1c.9648G>C (p.Gln3216His)
c.9519G>C (p.Gln3173His)
c.9510G>C (p.Gln3170His)
c.9006G>C (p.Gln3002His)
c.8937G>C (p.Gln2979His)
c.3723G>C (p.Gln1241His)
c.9573G>C (p.Gln3191His)
c.9453G>C (p.Gln3151His)
c.9384G>C (p.Gln3128His)
c.7788G>C (p.Gln2596His)
n.9924G>C
6g.51747968C>TCA450613642PKHD1c.9648G>A (p.Gln3216=)
c.9519G>A (p.Gln3173=)
c.9510G>A (p.Gln3170=)
c.9006G>A (p.Gln3002=)
c.8937G>A (p.Gln2979=)
c.3723G>A (p.Gln1241=)
c.9573G>A (p.Gln3191=)
c.9453G>A (p.Gln3151=)
c.9384G>A (p.Gln3128=)
c.7788G>A (p.Gln2596=)
n.9924G>A
6g.51747969T>ACA364420619PKHD1c.9647A>T (p.Gln3216Leu)
c.9518A>T (p.Gln3173Leu)
c.9509A>T (p.Gln3170Leu)
c.9005A>T (p.Gln3002Leu)
c.8936A>T (p.Gln2979Leu)
c.3722A>T (p.Gln1241Leu)
c.9572A>T (p.Gln3191Leu)
c.9452A>T (p.Gln3151Leu)
c.9383A>T (p.Gln3128Leu)
c.7787A>T (p.Gln2596Leu)
n.9923A>T
6g.51747969T>CCA364420620PKHD1c.9647A>G (p.Gln3216Arg)
c.9518A>G (p.Gln3173Arg)
c.9509A>G (p.Gln3170Arg)
c.9005A>G (p.Gln3002Arg)
c.8936A>G (p.Gln2979Arg)
c.3722A>G (p.Gln1241Arg)
c.9572A>G (p.Gln3191Arg)
c.9452A>G (p.Gln3151Arg)
c.9383A>G (p.Gln3128Arg)
c.7787A>G (p.Gln2596Arg)
n.9923A>G
6g.51747969T>GCA364420621PKHD1c.9647A>C (p.Gln3216Pro)
c.9518A>C (p.Gln3173Pro)
c.9509A>C (p.Gln3170Pro)
c.9005A>C (p.Gln3002Pro)
c.8936A>C (p.Gln2979Pro)
c.3722A>C (p.Gln1241Pro)
c.9572A>C (p.Gln3191Pro)
c.9452A>C (p.Gln3151Pro)
c.9383A>C (p.Gln3128Pro)
c.7787A>C (p.Gln2596Pro)
n.9923A>C
6g.51747970G>ACA3851359PKHD1c.9646C>T (p.Gln3216Ter)
c.9517C>T (p.Gln3173Ter)
c.9508C>T (p.Gln3170Ter)
c.9004C>T (p.Gln3002Ter)
c.8935C>T (p.Gln2979Ter)
c.3721C>T (p.Gln1241Ter)
c.9571C>T (p.Gln3191Ter)
c.9451C>T (p.Gln3151Ter)
c.9382C>T (p.Gln3128Ter)
c.7786C>T (p.Gln2596Ter)
n.9922C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.51747970G>CCA364420623PKHD1c.9646C>G (p.Gln3216Glu)
c.9517C>G (p.Gln3173Glu)
c.9508C>G (p.Gln3170Glu)
c.9004C>G (p.Gln3002Glu)
c.8935C>G (p.Gln2979Glu)
c.3721C>G (p.Gln1241Glu)
c.9571C>G (p.Gln3191Glu)
c.9451C>G (p.Gln3151Glu)
c.9382C>G (p.Gln3128Glu)
c.7786C>G (p.Gln2596Glu)
n.9922C>G
6g.51747970G=CA1628502213PKHD1c.9646C= (p.Gln3216=)
c.9517C= (p.Gln3173=)
c.9508C= (p.Gln3170=)
c.9004C= (p.Gln3002=)
c.8935C= (p.Gln2979=)
c.3721C= (p.Gln1241=)
c.9571C= (p.Gln3191=)
c.9451C= (p.Gln3151=)
c.9382C= (p.Gln3128=)
c.7786C= (p.Gln2596=)
n.9922C=
6g.51747970G>TCA364420622PKHD1c.9646C>A (p.Gln3216Lys)
c.9517C>A (p.Gln3173Lys)
c.9508C>A (p.Gln3170Lys)
c.9004C>A (p.Gln3002Lys)
c.8935C>A (p.Gln2979Lys)
c.3721C>A (p.Gln1241Lys)
c.9571C>A (p.Gln3191Lys)
c.9451C>A (p.Gln3151Lys)
c.9382C>A (p.Gln3128Lys)
c.7786C>A (p.Gln2596Lys)
n.9922C>A
6g.51747971A>CCA364420624PKHD1c.9645T>G (p.Ile3215Met)
c.9516T>G (p.Ile3172Met)
c.9507T>G (p.Ile3169Met)
c.9003T>G (p.Ile3001Met)
c.8934T>G (p.Ile2978Met)
c.3720T>G (p.Ile1240Met)
c.9570T>G (p.Ile3190Met)
c.9450T>G (p.Ile3150Met)
c.9381T>G (p.Ile3127Met)
c.7785T>G (p.Ile2595Met)
n.9921T>G
6g.51747971A>GCA450613646PKHD1c.9645T>C (p.Ile3215=)
c.9516T>C (p.Ile3172=)
c.9507T>C (p.Ile3169=)
c.9003T>C (p.Ile3001=)
c.8934T>C (p.Ile2978=)
c.3720T>C (p.Ile1240=)
c.9570T>C (p.Ile3190=)
c.9450T>C (p.Ile3150=)
c.9381T>C (p.Ile3127=)
c.7785T>C (p.Ile2595=)
n.9921T>C
6g.51747971A>TCA450613648PKHD1c.9645T>A (p.Ile3215=)
c.9516T>A (p.Ile3172=)
c.9507T>A (p.Ile3169=)
c.9003T>A (p.Ile3001=)
c.8934T>A (p.Ile2978=)
c.3720T>A (p.Ile1240=)
c.9570T>A (p.Ile3190=)
c.9450T>A (p.Ile3150=)
c.9381T>A (p.Ile3127=)
c.7785T>A (p.Ile2595=)
n.9921T>A
6g.51747972A=CA1628502220PKHD1c.9644T= (p.Ile3215=)
c.9515T= (p.Ile3172=)
c.9506T= (p.Ile3169=)
c.9002T= (p.Ile3001=)
c.8933T= (p.Ile2978=)
c.3719T= (p.Ile1240=)
c.9569T= (p.Ile3190=)
c.9449T= (p.Ile3150=)
c.9380T= (p.Ile3127=)
c.7784T= (p.Ile2595=)
n.9920T=
6g.51747972A>CCA364420625PKHD1c.9644T>G (p.Ile3215Ser)
c.9515T>G (p.Ile3172Ser)
c.9506T>G (p.Ile3169Ser)
c.9002T>G (p.Ile3001Ser)
c.8933T>G (p.Ile2978Ser)
c.3719T>G (p.Ile1240Ser)
c.9569T>G (p.Ile3190Ser)
c.9449T>G (p.Ile3150Ser)
c.9380T>G (p.Ile3127Ser)
c.7784T>G (p.Ile2595Ser)
n.9920T>G
6g.51747972A>GCA364420626PKHD1c.9644T>C (p.Ile3215Thr)
c.9515T>C (p.Ile3172Thr)
c.9506T>C (p.Ile3169Thr)
c.9002T>C (p.Ile3001Thr)
c.8933T>C (p.Ile2978Thr)
c.3719T>C (p.Ile1240Thr)
c.9569T>C (p.Ile3190Thr)
c.9449T>C (p.Ile3150Thr)
c.9380T>C (p.Ile3127Thr)
c.7784T>C (p.Ile2595Thr)
n.9920T>C
 gnomAD v4
6g.51747972A>TCA364420627PKHD1c.9644T>A (p.Ile3215Asn)
c.9515T>A (p.Ile3172Asn)
c.9506T>A (p.Ile3169Asn)
c.9002T>A (p.Ile3001Asn)
c.8933T>A (p.Ile2978Asn)
c.3719T>A (p.Ile1240Asn)
c.9569T>A (p.Ile3190Asn)
c.9449T>A (p.Ile3150Asn)
c.9380T>A (p.Ile3127Asn)
c.7784T>A (p.Ile2595Asn)
n.9920T>A
6g.51747972_51747973insGCA1628502226PKHD1c.9643_9644insC (p.Ile3215ThrfsTer17)
c.9514_9515insC (p.Ile3172ThrfsTer17)
c.9505_9506insC (p.Ile3169ThrfsTer17)
c.9001_9002insC (p.Ile3001ThrfsTer17)
c.8932_8933insC (p.Ile2978ThrfsTer17)
c.3718_3719insC (p.Ile1240ThrfsTer17)
c.9568_9569insC (p.Ile3190ThrfsTer17)
c.9448_9449insC (p.Ile3150ThrfsTer17)
c.9379_9380insC (p.Ile3127ThrfsTer17)
c.7783_7784insC (p.Ile2595ThrfsTer17)
n.9919_9920insC
 dbSNP
6g.51747973T>ACA364420628PKHD1c.9643A>T (p.Ile3215Phe)
c.9514A>T (p.Ile3172Phe)
c.9505A>T (p.Ile3169Phe)
c.9001A>T (p.Ile3001Phe)
c.8932A>T (p.Ile2978Phe)
c.3718A>T (p.Ile1240Phe)
c.9568A>T (p.Ile3190Phe)
c.9448A>T (p.Ile3150Phe)
c.9379A>T (p.Ile3127Phe)
c.7783A>T (p.Ile2595Phe)
n.9919A>T
6g.51747973T>CCA364420629PKHD1c.9643A>G (p.Ile3215Val)
c.9514A>G (p.Ile3172Val)
c.9505A>G (p.Ile3169Val)
c.9001A>G (p.Ile3001Val)
c.8932A>G (p.Ile2978Val)
c.3718A>G (p.Ile1240Val)
c.9568A>G (p.Ile3190Val)
c.9448A>G (p.Ile3150Val)
c.9379A>G (p.Ile3127Val)
c.7783A>G (p.Ile2595Val)
n.9919A>G
 gnomAD v4
6g.51747973T>GCA364420630PKHD1c.9643A>C (p.Ile3215Leu)
c.9514A>C (p.Ile3172Leu)
c.9505A>C (p.Ile3169Leu)
c.9001A>C (p.Ile3001Leu)
c.8932A>C (p.Ile2978Leu)
c.3718A>C (p.Ile1240Leu)
c.9568A>C (p.Ile3190Leu)
c.9448A>C (p.Ile3150Leu)
c.9379A>C (p.Ile3127Leu)
c.7783A>C (p.Ile2595Leu)
n.9919A>C
 gnomAD v4
6g.51747973T=CA1628502223PKHD1c.9643A= (p.Ile3215=)
c.9514A= (p.Ile3172=)
c.9505A= (p.Ile3169=)
c.9001A= (p.Ile3001=)
c.8932A= (p.Ile2978=)
c.3718A= (p.Ile1240=)
c.9568A= (p.Ile3190=)
c.9448A= (p.Ile3150=)
c.9379A= (p.Ile3127=)
c.7783A= (p.Ile2595=)
n.9919A=
6g.51747974G>ACA450613650PKHD1c.9642C>T (p.Cys3214=)
c.9513C>T (p.Cys3171=)
c.9504C>T (p.Cys3168=)
c.9000C>T (p.Cys3000=)
c.8931C>T (p.Cys2977=)
c.3717C>T (p.Cys1239=)
c.9567C>T (p.Cys3189=)
c.9447C>T (p.Cys3149=)
c.9378C>T (p.Cys3126=)
c.7782C>T (p.Cys2594=)
n.9918C>T
6g.51747974G>CCA364420631PKHD1c.9642C>G (p.Cys3214Trp)
c.9513C>G (p.Cys3171Trp)
c.9504C>G (p.Cys3168Trp)
c.9000C>G (p.Cys3000Trp)
c.8931C>G (p.Cys2977Trp)
c.3717C>G (p.Cys1239Trp)
c.9567C>G (p.Cys3189Trp)
c.9447C>G (p.Cys3149Trp)
c.9378C>G (p.Cys3126Trp)
c.7782C>G (p.Cys2594Trp)
n.9918C>G
6g.51747974G>TCA364420632PKHD1c.9642C>A (p.Cys3214Ter)
c.9513C>A (p.Cys3171Ter)
c.9504C>A (p.Cys3168Ter)
c.9000C>A (p.Cys3000Ter)
c.8931C>A (p.Cys2977Ter)
c.3717C>A (p.Cys1239Ter)
c.9567C>A (p.Cys3189Ter)
c.9447C>A (p.Cys3149Ter)
c.9378C>A (p.Cys3126Ter)
c.7782C>A (p.Cys2594Ter)
n.9918C>A
 gnomAD v3 gnomAD v4
6g.51747974_51747975insACAGCA1628502230PKHD1c.9642_9643insTGTC (p.Ile3215CysfsTer18)
c.9513_9514insTGTC (p.Ile3172CysfsTer18)
c.9504_9505insTGTC (p.Ile3169CysfsTer18)
c.9000_9001insTGTC (p.Ile3001CysfsTer18)
c.8931_8932insTGTC (p.Ile2978CysfsTer18)
c.3717_3718insTGTC (p.Ile1240CysfsTer18)
c.9567_9568insTGTC (p.Ile3190CysfsTer18)
c.9447_9448insTGTC (p.Ile3150CysfsTer18)
c.9378_9379insTGTC (p.Ile3127CysfsTer18)
c.7782_7783insTGTC (p.Ile2595CysfsTer18)
n.9918_9919insTGTC
 dbSNP
6g.51747975C>ACA364420633PKHD1c.9641G>T (p.Cys3214Phe)
c.9512G>T (p.Cys3171Phe)
c.9503G>T (p.Cys3168Phe)
c.8999G>T (p.Cys3000Phe)
c.8930G>T (p.Cys2977Phe)
c.3716G>T (p.Cys1239Phe)
c.9566G>T (p.Cys3189Phe)
c.9446G>T (p.Cys3149Phe)
c.9377G>T (p.Cys3126Phe)
c.7781G>T (p.Cys2594Phe)
n.9917G>T
6g.51747975C>GCA364420634PKHD1c.9641G>C (p.Cys3214Ser)
c.9512G>C (p.Cys3171Ser)
c.9503G>C (p.Cys3168Ser)
c.8999G>C (p.Cys3000Ser)
c.8930G>C (p.Cys2977Ser)
c.3716G>C (p.Cys1239Ser)
c.9566G>C (p.Cys3189Ser)
c.9446G>C (p.Cys3149Ser)
c.9377G>C (p.Cys3126Ser)
c.7781G>C (p.Cys2594Ser)
n.9917G>C
6g.51747975C>TCA364420635PKHD1c.9641G>A (p.Cys3214Tyr)
c.9512G>A (p.Cys3171Tyr)
c.9503G>A (p.Cys3168Tyr)
c.8999G>A (p.Cys3000Tyr)
c.8930G>A (p.Cys2977Tyr)
c.3716G>A (p.Cys1239Tyr)
c.9566G>A (p.Cys3189Tyr)
c.9446G>A (p.Cys3149Tyr)
c.9377G>A (p.Cys3126Tyr)
c.7781G>A (p.Cys2594Tyr)
n.9917G>A
 gnomAD v3 gnomAD v4
6g.51747976A>CCA364420638PKHD1c.9640T>G (p.Cys3214Gly)
c.9511T>G (p.Cys3171Gly)
c.9502T>G (p.Cys3168Gly)
c.8998T>G (p.Cys3000Gly)
c.8929T>G (p.Cys2977Gly)
c.3715T>G (p.Cys1239Gly)
c.9565T>G (p.Cys3189Gly)
c.9445T>G (p.Cys3149Gly)
c.9376T>G (p.Cys3126Gly)
c.7780T>G (p.Cys2594Gly)
n.9916T>G
 gnomAD v4
6g.51747976A>GCA364420636PKHD1c.9640T>C (p.Cys3214Arg)
c.9511T>C (p.Cys3171Arg)
c.9502T>C (p.Cys3168Arg)
c.8998T>C (p.Cys3000Arg)
c.8929T>C (p.Cys2977Arg)
c.3715T>C (p.Cys1239Arg)
c.9565T>C (p.Cys3189Arg)
c.9445T>C (p.Cys3149Arg)
c.9376T>C (p.Cys3126Arg)
c.7780T>C (p.Cys2594Arg)
n.9916T>C
6g.51747976A>TCA364420637PKHD1c.9640T>A (p.Cys3214Ser)
c.9511T>A (p.Cys3171Ser)
c.9502T>A (p.Cys3168Ser)
c.8998T>A (p.Cys3000Ser)
c.8929T>A (p.Cys2977Ser)
c.3715T>A (p.Cys1239Ser)
c.9565T>A (p.Cys3189Ser)
c.9445T>A (p.Cys3149Ser)
c.9376T>A (p.Cys3126Ser)
c.7780T>A (p.Cys2594Ser)
n.9916T>A
 gnomAD v4
6g.51747977G>ACA450613652PKHD1c.9639C>T (p.Asp3213=)
c.9510C>T (p.Asp3170=)
c.9501C>T (p.Asp3167=)
c.8997C>T (p.Asp2999=)
c.8928C>T (p.Asp2976=)
c.3714C>T (p.Asp1238=)
c.9564C>T (p.Asp3188=)
c.9444C>T (p.Asp3148=)
c.9375C>T (p.Asp3125=)
c.7779C>T (p.Asp2593=)
n.9915C>T
 gnomAD v4
6g.51747977G>CCA364420639PKHD1c.9639C>G (p.Asp3213Glu)
c.9510C>G (p.Asp3170Glu)
c.9501C>G (p.Asp3167Glu)
c.8997C>G (p.Asp2999Glu)
c.8928C>G (p.Asp2976Glu)
c.3714C>G (p.Asp1238Glu)
c.9564C>G (p.Asp3188Glu)
c.9444C>G (p.Asp3148Glu)
c.9375C>G (p.Asp3125Glu)
c.7779C>G (p.Asp2593Glu)
n.9915C>G
6g.51747977G>TCA364420640PKHD1c.9639C>A (p.Asp3213Glu)
c.9510C>A (p.Asp3170Glu)
c.9501C>A (p.Asp3167Glu)
c.8997C>A (p.Asp2999Glu)
c.8928C>A (p.Asp2976Glu)
c.3714C>A (p.Asp1238Glu)
c.9564C>A (p.Asp3188Glu)
c.9444C>A (p.Asp3148Glu)
c.9375C>A (p.Asp3125Glu)
c.7779C>A (p.Asp2593Glu)
n.9915C>A
6g.51747978T>ACA364420641PKHD1c.9638A>T (p.Asp3213Val)
c.9509A>T (p.Asp3170Val)
c.9500A>T (p.Asp3167Val)
c.8996A>T (p.Asp2999Val)
c.8927A>T (p.Asp2976Val)
c.3713A>T (p.Asp1238Val)
c.9563A>T (p.Asp3188Val)
c.9443A>T (p.Asp3148Val)
c.9374A>T (p.Asp3125Val)
c.7778A>T (p.Asp2593Val)
n.9914A>T
6g.51747978T>CCA364420642PKHD1c.9638A>G (p.Asp3213Gly)
c.9509A>G (p.Asp3170Gly)
c.9500A>G (p.Asp3167Gly)
c.8996A>G (p.Asp2999Gly)
c.8927A>G (p.Asp2976Gly)
c.3713A>G (p.Asp1238Gly)
c.9563A>G (p.Asp3188Gly)
c.9443A>G (p.Asp3148Gly)
c.9374A>G (p.Asp3125Gly)
c.7778A>G (p.Asp2593Gly)
n.9914A>G
6g.51747978T>GCA364420643PKHD1c.9638A>C (p.Asp3213Ala)
c.9509A>C (p.Asp3170Ala)
c.9500A>C (p.Asp3167Ala)
c.8996A>C (p.Asp2999Ala)
c.8927A>C (p.Asp2976Ala)
c.3713A>C (p.Asp1238Ala)
c.9563A>C (p.Asp3188Ala)
c.9443A>C (p.Asp3148Ala)
c.9374A>C (p.Asp3125Ala)
c.7778A>C (p.Asp2593Ala)
n.9914A>C
6g.51747979C>ACA364420644PKHD1c.9637G>T (p.Asp3213Tyr)
c.9508G>T (p.Asp3170Tyr)
c.9499G>T (p.Asp3167Tyr)
c.8995G>T (p.Asp2999Tyr)
c.8926G>T (p.Asp2976Tyr)
c.3712G>T (p.Asp1238Tyr)
c.9562G>T (p.Asp3188Tyr)
c.9442G>T (p.Asp3148Tyr)
c.9373G>T (p.Asp3125Tyr)
c.7777G>T (p.Asp2593Tyr)
n.9913G>T
6g.51747979C=CA1628502235PKHD1c.9637G= (p.Asp3213=)
c.9508G= (p.Asp3170=)
c.9499G= (p.Asp3167=)
c.8995G= (p.Asp2999=)
c.8926G= (p.Asp2976=)
c.3712G= (p.Asp1238=)
c.9562G= (p.Asp3188=)
c.9442G= (p.Asp3148=)
c.9373G= (p.Asp3125=)
c.7777G= (p.Asp2593=)
n.9913G=
6g.51747979C>GCA3851360PKHD1c.9637G>C (p.Asp3213His)
c.9508G>C (p.Asp3170His)
c.9499G>C (p.Asp3167His)
c.8995G>C (p.Asp2999His)
c.8926G>C (p.Asp2976His)
c.3712G>C (p.Asp1238His)
c.9562G>C (p.Asp3188His)
c.9442G>C (p.Asp3148His)
c.9373G>C (p.Asp3125His)
c.7777G>C (p.Asp2593His)
n.9913G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.51747979C>TCA364420645PKHD1c.9637G>A (p.Asp3213Asn)
c.9508G>A (p.Asp3170Asn)
c.9499G>A (p.Asp3167Asn)
c.8995G>A (p.Asp2999Asn)
c.8926G>A (p.Asp2976Asn)
c.3712G>A (p.Asp1238Asn)
c.9562G>A (p.Asp3188Asn)
c.9442G>A (p.Asp3148Asn)
c.9373G>A (p.Asp3125Asn)
c.7777G>A (p.Asp2593Asn)
n.9913G>A
6g.51747980A=CA1628502236PKHD1c.9636T= (p.Phe3212=)
c.9507T= (p.Phe3169=)
c.9498T= (p.Phe3166=)
c.8994T= (p.Phe2998=)
c.8925T= (p.Phe2975=)
c.3711T= (p.Phe1237=)
c.9561T= (p.Phe3187=)
c.9441T= (p.Phe3147=)
c.9372T= (p.Phe3124=)
c.7776T= (p.Phe2592=)
n.9912T=
6g.51747980A>CCA364420646PKHD1c.9636T>G (p.Phe3212Leu)
c.9507T>G (p.Phe3169Leu)
c.9498T>G (p.Phe3166Leu)
c.8994T>G (p.Phe2998Leu)
c.8925T>G (p.Phe2975Leu)
c.3711T>G (p.Phe1237Leu)
c.9561T>G (p.Phe3187Leu)
c.9441T>G (p.Phe3147Leu)
c.9372T>G (p.Phe3124Leu)
c.7776T>G (p.Phe2592Leu)
n.9912T>G
 dbSNP
6g.51747980A>GCA450613653PKHD1c.9636T>C (p.Phe3212=)
c.9507T>C (p.Phe3169=)
c.9498T>C (p.Phe3166=)
c.8994T>C (p.Phe2998=)
c.8925T>C (p.Phe2975=)
c.3711T>C (p.Phe1237=)
c.9561T>C (p.Phe3187=)
c.9441T>C (p.Phe3147=)
c.9372T>C (p.Phe3124=)
c.7776T>C (p.Phe2592=)
n.9912T>C
 ClinVar dbSNP
6g.51747980A>TCA364420647PKHD1c.9636T>A (p.Phe3212Leu)
c.9507T>A (p.Phe3169Leu)
c.9498T>A (p.Phe3166Leu)
c.8994T>A (p.Phe2998Leu)
c.8925T>A (p.Phe2975Leu)
c.3711T>A (p.Phe1237Leu)
c.9561T>A (p.Phe3187Leu)
c.9441T>A (p.Phe3147Leu)
c.9372T>A (p.Phe3124Leu)
c.7776T>A (p.Phe2592Leu)
n.9912T>A
6g.51747981A>CCA364420648PKHD1c.9635T>G (p.Phe3212Cys)
c.9506T>G (p.Phe3169Cys)
c.9497T>G (p.Phe3166Cys)
c.8993T>G (p.Phe2998Cys)
c.8924T>G (p.Phe2975Cys)
c.3710T>G (p.Phe1237Cys)
c.9560T>G (p.Phe3187Cys)
c.9440T>G (p.Phe3147Cys)
c.9371T>G (p.Phe3124Cys)
c.7775T>G (p.Phe2592Cys)
n.9911T>G
6g.51747981A>GCA364420649PKHD1c.9635T>C (p.Phe3212Ser)
c.9506T>C (p.Phe3169Ser)
c.9497T>C (p.Phe3166Ser)
c.8993T>C (p.Phe2998Ser)
c.8924T>C (p.Phe2975Ser)
c.3710T>C (p.Phe1237Ser)
c.9560T>C (p.Phe3187Ser)
c.9440T>C (p.Phe3147Ser)
c.9371T>C (p.Phe3124Ser)
c.7775T>C (p.Phe2592Ser)
n.9911T>C
 gnomAD v4 COSMIC COSMIC
6g.51747981A>TCA364420650PKHD1c.9635T>A (p.Phe3212Tyr)
c.9506T>A (p.Phe3169Tyr)
c.9497T>A (p.Phe3166Tyr)
c.8993T>A (p.Phe2998Tyr)
c.8924T>A (p.Phe2975Tyr)
c.3710T>A (p.Phe1237Tyr)
c.9560T>A (p.Phe3187Tyr)
c.9440T>A (p.Phe3147Tyr)
c.9371T>A (p.Phe3124Tyr)
c.7775T>A (p.Phe2592Tyr)
n.9911T>A
6g.51747981_51747984delinsAAAGCA1628502240PKHD1c.9632_9635delinsCTTT (p.Ser3211=)
c.9503_9506delinsCTTT (p.Ser3168=)
c.9494_9497delinsCTTT (p.Ser3165=)
c.8990_8993delinsCTTT (p.Ser2997=)
c.8921_8924delinsCTTT (p.Ser2974=)
c.3707_3710delinsCTTT (p.Ser1236=)
c.9557_9560delinsCTTT (p.Ser3186=)
c.9437_9440delinsCTTT (p.Ser3146=)
c.9368_9371delinsCTTT (p.Ser3123=)
c.7772_7775delinsCTTT (p.Ser2591=)
n.9908_9911delinsCTTT
6g.51747982A>CCA364420653PKHD1c.9634T>G (p.Phe3212Val)
c.9505T>G (p.Phe3169Val)
c.9496T>G (p.Phe3166Val)
c.8992T>G (p.Phe2998Val)
c.8923T>G (p.Phe2975Val)
c.3709T>G (p.Phe1237Val)
c.9559T>G (p.Phe3187Val)
c.9439T>G (p.Phe3147Val)
c.9370T>G (p.Phe3124Val)
c.7774T>G (p.Phe2592Val)
n.9910T>G
6g.51747982A>GCA364420652PKHD1c.9634T>C (p.Phe3212Leu)
c.9505T>C (p.Phe3169Leu)
c.9496T>C (p.Phe3166Leu)
c.8992T>C (p.Phe2998Leu)
c.8923T>C (p.Phe2975Leu)
c.3709T>C (p.Phe1237Leu)
c.9559T>C (p.Phe3187Leu)
c.9439T>C (p.Phe3147Leu)
c.9370T>C (p.Phe3124Leu)
c.7774T>C (p.Phe2592Leu)
n.9910T>C
6g.51747982A>TCA364420651PKHD1c.9634T>A (p.Phe3212Ile)
c.9505T>A (p.Phe3169Ile)
c.9496T>A (p.Phe3166Ile)
c.8992T>A (p.Phe2998Ile)
c.8923T>A (p.Phe2975Ile)
c.3709T>A (p.Phe1237Ile)
c.9559T>A (p.Phe3187Ile)
c.9439T>A (p.Phe3147Ile)
c.9370T>A (p.Phe3124Ile)
c.7774T>A (p.Phe2592Ile)
n.9910T>A
6g.51747986_51747988delCA1088960994PKHD1c.9632_9634del (p.Ser3211del)
c.9503_9505del (p.Ser3168del)
c.9494_9496del (p.Ser3165del)
c.8990_8992del (p.Ser2997del)
c.8921_8923del (p.Ser2974del)
c.3707_3709del (p.Ser1236del)
c.9557_9559del (p.Ser3186del)
c.9437_9439del (p.Ser3146del)
c.9368_9370del (p.Ser3123del)
c.7772_7774del (p.Ser2591del)
n.9908_9910del
 dbSNP gnomAD v3 gnomAD v4
6g.51747983A>CCA450613654PKHD1c.9633T>G (p.Ser3211=)
c.9504T>G (p.Ser3168=)
c.9495T>G (p.Ser3165=)
c.8991T>G (p.Ser2997=)
c.8922T>G (p.Ser2974=)
c.3708T>G (p.Ser1236=)
c.9558T>G (p.Ser3186=)
c.9438T>G (p.Ser3146=)
c.9369T>G (p.Ser3123=)
c.7773T>G (p.Ser2591=)
n.9909T>G
6g.51747983A>GCA450613655PKHD1c.9633T>C (p.Ser3211=)
c.9504T>C (p.Ser3168=)
c.9495T>C (p.Ser3165=)
c.8991T>C (p.Ser2997=)
c.8922T>C (p.Ser2974=)
c.3708T>C (p.Ser1236=)
c.9558T>C (p.Ser3186=)
c.9438T>C (p.Ser3146=)
c.9369T>C (p.Ser3123=)
c.7773T>C (p.Ser2591=)
n.9909T>C
 ClinVar dbSNP
6g.51747983A>TCA450613656PKHD1c.9633T>A (p.Ser3211=)
c.9504T>A (p.Ser3168=)
c.9495T>A (p.Ser3165=)
c.8991T>A (p.Ser2997=)
c.8922T>A (p.Ser2974=)
c.3708T>A (p.Ser1236=)
c.9558T>A (p.Ser3186=)
c.9438T>A (p.Ser3146=)
c.9369T>A (p.Ser3123=)
c.7773T>A (p.Ser2591=)
n.9909T>A
6g.51747984G>ACA364420654PKHD1c.9632C>T (p.Ser3211Phe)
c.9503C>T (p.Ser3168Phe)
c.9494C>T (p.Ser3165Phe)
c.8990C>T (p.Ser2997Phe)
c.8921C>T (p.Ser2974Phe)
c.3707C>T (p.Ser1236Phe)
c.9557C>T (p.Ser3186Phe)
c.9437C>T (p.Ser3146Phe)
c.9368C>T (p.Ser3123Phe)
c.7772C>T (p.Ser2591Phe)
n.9908C>T
6g.51747984G>CCA364420655PKHD1c.9632C>G (p.Ser3211Cys)
c.9503C>G (p.Ser3168Cys)
c.9494C>G (p.Ser3165Cys)
c.8990C>G (p.Ser2997Cys)
c.8921C>G (p.Ser2974Cys)
c.3707C>G (p.Ser1236Cys)
c.9557C>G (p.Ser3186Cys)
c.9437C>G (p.Ser3146Cys)
c.9368C>G (p.Ser3123Cys)
c.7772C>G (p.Ser2591Cys)
n.9908C>G
6g.51747984G>TCA364420656PKHD1c.9632C>A (p.Ser3211Tyr)
c.9503C>A (p.Ser3168Tyr)
c.9494C>A (p.Ser3165Tyr)
c.8990C>A (p.Ser2997Tyr)
c.8921C>A (p.Ser2974Tyr)
c.3707C>A (p.Ser1236Tyr)
c.9557C>A (p.Ser3186Tyr)
c.9437C>A (p.Ser3146Tyr)
c.9368C>A (p.Ser3123Tyr)
c.7772C>A (p.Ser2591Tyr)
n.9908C>A
6g.51747985A>CCA364420657PKHD1c.9631T>G (p.Ser3211Ala)
c.9502T>G (p.Ser3168Ala)
c.9493T>G (p.Ser3165Ala)
c.8989T>G (p.Ser2997Ala)
c.8920T>G (p.Ser2974Ala)
c.3706T>G (p.Ser1236Ala)
c.9556T>G (p.Ser3186Ala)
c.9436T>G (p.Ser3146Ala)
c.9367T>G (p.Ser3123Ala)
c.7771T>G (p.Ser2591Ala)
n.9907T>G
6g.51747985A>GCA364420658PKHD1c.9631T>C (p.Ser3211Pro)
c.9502T>C (p.Ser3168Pro)
c.9493T>C (p.Ser3165Pro)
c.8989T>C (p.Ser2997Pro)
c.8920T>C (p.Ser2974Pro)
c.3706T>C (p.Ser1236Pro)
c.9556T>C (p.Ser3186Pro)
c.9436T>C (p.Ser3146Pro)
c.9367T>C (p.Ser3123Pro)
c.7771T>C (p.Ser2591Pro)
n.9907T>C
6g.51747985A>TCA364420659PKHD1c.9631T>A (p.Ser3211Thr)
c.9502T>A (p.Ser3168Thr)
c.9493T>A (p.Ser3165Thr)
c.8989T>A (p.Ser2997Thr)
c.8920T>A (p.Ser2974Thr)
c.3706T>A (p.Ser1236Thr)
c.9556T>A (p.Ser3186Thr)
c.9436T>A (p.Ser3146Thr)
c.9367T>A (p.Ser3123Thr)
c.7771T>A (p.Ser2591Thr)
n.9907T>A
6g.51747986A>CCA450613657PKHD1c.9630T>G (p.Ser3210=)
c.9501T>G (p.Ser3167=)
c.9492T>G (p.Ser3164=)
c.8988T>G (p.Ser2996=)
c.8919T>G (p.Ser2973=)
c.3705T>G (p.Ser1235=)
c.9555T>G (p.Ser3185=)
c.9435T>G (p.Ser3145=)
c.9366T>G (p.Ser3122=)
c.7770T>G (p.Ser2590=)
n.9906T>G
 gnomAD v4
6g.51747986A>GCA450613658PKHD1c.9630T>C (p.Ser3210=)
c.9501T>C (p.Ser3167=)
c.9492T>C (p.Ser3164=)
c.8988T>C (p.Ser2996=)
c.8919T>C (p.Ser2973=)
c.3705T>C (p.Ser1235=)
c.9555T>C (p.Ser3185=)
c.9435T>C (p.Ser3145=)
c.9366T>C (p.Ser3122=)
c.7770T>C (p.Ser2590=)
n.9906T>C
 gnomAD v4
6g.51747986A>TCA450613659PKHD1c.9630T>A (p.Ser3210=)
c.9501T>A (p.Ser3167=)
c.9492T>A (p.Ser3164=)
c.8988T>A (p.Ser2996=)
c.8919T>A (p.Ser2973=)
c.3705T>A (p.Ser1235=)
c.9555T>A (p.Ser3185=)
c.9435T>A (p.Ser3145=)
c.9366T>A (p.Ser3122=)
c.7770T>A (p.Ser2590=)
n.9906T>A
6g.51747987G>ACA364420660PKHD1c.9629C>T (p.Ser3210Phe)
c.9500C>T (p.Ser3167Phe)
c.9491C>T (p.Ser3164Phe)
c.8987C>T (p.Ser2996Phe)
c.8918C>T (p.Ser2973Phe)
c.3704C>T (p.Ser1235Phe)
c.9554C>T (p.Ser3185Phe)
c.9434C>T (p.Ser3145Phe)
c.9365C>T (p.Ser3122Phe)
c.7769C>T (p.Ser2590Phe)
n.9905C>T
 COSMIC COSMIC
6g.51747987G>CCA3851361PKHD1c.9629C>G (p.Ser3210Cys)
c.9500C>G (p.Ser3167Cys)
c.9491C>G (p.Ser3164Cys)
c.8987C>G (p.Ser2996Cys)
c.8918C>G (p.Ser2973Cys)
c.3704C>G (p.Ser1235Cys)
c.9554C>G (p.Ser3185Cys)
c.9434C>G (p.Ser3145Cys)
c.9365C>G (p.Ser3122Cys)
c.7769C>G (p.Ser2590Cys)
n.9905C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51747987G=CA1628502250PKHD1c.9629C= (p.Ser3210=)
c.9500C= (p.Ser3167=)
c.9491C= (p.Ser3164=)
c.8987C= (p.Ser2996=)
c.8918C= (p.Ser2973=)
c.3704C= (p.Ser1235=)
c.9554C= (p.Ser3185=)
c.9434C= (p.Ser3145=)
c.9365C= (p.Ser3122=)
c.7769C= (p.Ser2590=)
n.9905C=
6g.51747987G>TCA3851362PKHD1c.9629C>A (p.Ser3210Tyr)
c.9500C>A (p.Ser3167Tyr)
c.9491C>A (p.Ser3164Tyr)
c.8987C>A (p.Ser2996Tyr)
c.8918C>A (p.Ser2973Tyr)
c.3704C>A (p.Ser1235Tyr)
c.9554C>A (p.Ser3185Tyr)
c.9434C>A (p.Ser3145Tyr)
c.9365C>A (p.Ser3122Tyr)
c.7769C>A (p.Ser2590Tyr)
n.9905C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.51747988A=CA1628502255PKHD1c.9628T= (p.Ser3210=)
c.9499T= (p.Ser3167=)
c.9490T= (p.Ser3164=)
c.8986T= (p.Ser2996=)
c.8917T= (p.Ser2973=)
c.3703T= (p.Ser1235=)
c.9553T= (p.Ser3185=)
c.9433T= (p.Ser3145=)
c.9364T= (p.Ser3122=)
c.7768T= (p.Ser2590=)
n.9904T=
6g.51747988A>CCA364420661PKHD1c.9628T>G (p.Ser3210Ala)
c.9499T>G (p.Ser3167Ala)
c.9490T>G (p.Ser3164Ala)
c.8986T>G (p.Ser2996Ala)
c.8917T>G (p.Ser2973Ala)
c.3703T>G (p.Ser1235Ala)
c.9553T>G (p.Ser3185Ala)
c.9433T>G (p.Ser3145Ala)
c.9364T>G (p.Ser3122Ala)
c.7768T>G (p.Ser2590Ala)
n.9904T>G
 dbSNP
6g.51747988A>GCA364420662PKHD1c.9628T>C (p.Ser3210Pro)
c.9499T>C (p.Ser3167Pro)
c.9490T>C (p.Ser3164Pro)
c.8986T>C (p.Ser2996Pro)
c.8917T>C (p.Ser2973Pro)
c.3703T>C (p.Ser1235Pro)
c.9553T>C (p.Ser3185Pro)
c.9433T>C (p.Ser3145Pro)
c.9364T>C (p.Ser3122Pro)
c.7768T>C (p.Ser2590Pro)
n.9904T>C
6g.51747988A>TCA364420663PKHD1c.9628T>A (p.Ser3210Thr)
c.9499T>A (p.Ser3167Thr)
c.9490T>A (p.Ser3164Thr)
c.8986T>A (p.Ser2996Thr)
c.8917T>A (p.Ser2973Thr)
c.3703T>A (p.Ser1235Thr)
c.9553T>A (p.Ser3185Thr)
c.9433T>A (p.Ser3145Thr)
c.9364T>A (p.Ser3122Thr)
c.7768T>A (p.Ser2590Thr)
n.9904T>A
 gnomAD v4
6g.51747989G>ACA450613661PKHD1c.9627C>T (p.Ser3209=)
c.9498C>T (p.Ser3166=)
c.9489C>T (p.Ser3163=)
c.8985C>T (p.Ser2995=)
c.8916C>T (p.Ser2972=)
c.3702C>T (p.Ser1234=)
c.9552C>T (p.Ser3184=)
c.9432C>T (p.Ser3144=)
c.9363C>T (p.Ser3121=)
c.7767C>T (p.Ser2589=)
n.9903C>T
6g.51747989G>CCA364420664PKHD1c.9627C>G (p.Ser3209Arg)
c.9498C>G (p.Ser3166Arg)
c.9489C>G (p.Ser3163Arg)
c.8985C>G (p.Ser2995Arg)
c.8916C>G (p.Ser2972Arg)
c.3702C>G (p.Ser1234Arg)
c.9552C>G (p.Ser3184Arg)
c.9432C>G (p.Ser3144Arg)
c.9363C>G (p.Ser3121Arg)
c.7767C>G (p.Ser2589Arg)
n.9903C>G
 ClinVar gnomAD v4
6g.51747989G>TCA364420665PKHD1c.9627C>A (p.Ser3209Arg)
c.9498C>A (p.Ser3166Arg)
c.9489C>A (p.Ser3163Arg)
c.8985C>A (p.Ser2995Arg)
c.8916C>A (p.Ser2972Arg)
c.3702C>A (p.Ser1234Arg)
c.9552C>A (p.Ser3184Arg)
c.9432C>A (p.Ser3144Arg)
c.9363C>A (p.Ser3121Arg)
c.7767C>A (p.Ser2589Arg)
n.9903C>A
6g.51747990C>ACA364420668PKHD1c.9626G>T (p.Ser3209Ile)
c.9497G>T (p.Ser3166Ile)
c.9488G>T (p.Ser3163Ile)
c.8984G>T (p.Ser2995Ile)
c.8915G>T (p.Ser2972Ile)
c.3701G>T (p.Ser1234Ile)
c.9551G>T (p.Ser3184Ile)
c.9431G>T (p.Ser3144Ile)
c.9362G>T (p.Ser3121Ile)
c.7766G>T (p.Ser2589Ile)
n.9902G>T
6g.51747990C>GCA364420667PKHD1c.9626G>C (p.Ser3209Thr)
c.9497G>C (p.Ser3166Thr)
c.9488G>C (p.Ser3163Thr)
c.8984G>C (p.Ser2995Thr)
c.8915G>C (p.Ser2972Thr)
c.3701G>C (p.Ser1234Thr)
c.9551G>C (p.Ser3184Thr)
c.9431G>C (p.Ser3144Thr)
c.9362G>C (p.Ser3121Thr)
c.7766G>C (p.Ser2589Thr)
n.9902G>C
6g.51747990C>TCA364420666PKHD1c.9626G>A (p.Ser3209Asn)
c.9497G>A (p.Ser3166Asn)
c.9488G>A (p.Ser3163Asn)
c.8984G>A (p.Ser2995Asn)
c.8915G>A (p.Ser2972Asn)
c.3701G>A (p.Ser1234Asn)
c.9551G>A (p.Ser3184Asn)
c.9431G>A (p.Ser3144Asn)
c.9362G>A (p.Ser3121Asn)
c.7766G>A (p.Ser2589Asn)
n.9902G>A
6g.51747991T>ACA364420669PKHD1c.9625A>T (p.Ser3209Cys)
c.9496A>T (p.Ser3166Cys)
c.9487A>T (p.Ser3163Cys)
c.8983A>T (p.Ser2995Cys)
c.8914A>T (p.Ser2972Cys)
c.3700A>T (p.Ser1234Cys)
c.9550A>T (p.Ser3184Cys)
c.9430A>T (p.Ser3144Cys)
c.9361A>T (p.Ser3121Cys)
c.7765A>T (p.Ser2589Cys)
n.9901A>T
6g.51747991T>CCA364420671PKHD1c.9625A>G (p.Ser3209Gly)
c.9496A>G (p.Ser3166Gly)
c.9487A>G (p.Ser3163Gly)
c.8983A>G (p.Ser2995Gly)
c.8914A>G (p.Ser2972Gly)
c.3700A>G (p.Ser1234Gly)
c.9550A>G (p.Ser3184Gly)
c.9430A>G (p.Ser3144Gly)
c.9361A>G (p.Ser3121Gly)
c.7765A>G (p.Ser2589Gly)
n.9901A>G
6g.51747991T>GCA364420670PKHD1c.9625A>C (p.Ser3209Arg)
c.9496A>C (p.Ser3166Arg)
c.9487A>C (p.Ser3163Arg)
c.8983A>C (p.Ser2995Arg)
c.8914A>C (p.Ser2972Arg)
c.3700A>C (p.Ser1234Arg)
c.9550A>C (p.Ser3184Arg)
c.9430A>C (p.Ser3144Arg)
c.9361A>C (p.Ser3121Arg)
c.7765A>C (p.Ser2589Arg)
n.9901A>C
 ClinVar dbSNP
6g.51747991T=CA1628502258PKHD1c.9625A= (p.Ser3209=)
c.9496A= (p.Ser3166=)
c.9487A= (p.Ser3163=)
c.8983A= (p.Ser2995=)
c.8914A= (p.Ser2972=)
c.3700A= (p.Ser1234=)
c.9550A= (p.Ser3184=)
c.9430A= (p.Ser3144=)
c.9361A= (p.Ser3121=)
c.7765A= (p.Ser2589=)
n.9901A=
6g.51747992G>ACA450613662PKHD1c.9624C>T (p.Thr3208=)
c.9495C>T (p.Thr3165=)
c.9486C>T (p.Thr3162=)
c.8982C>T (p.Thr2994=)
c.8913C>T (p.Thr2971=)
c.3699C>T (p.Thr1233=)
c.9549C>T (p.Thr3183=)
c.9429C>T (p.Thr3143=)
c.9360C>T (p.Thr3120=)
c.7764C>T (p.Thr2588=)
n.9900C>T
6g.51747992G>CCA450613663PKHD1c.9624C>G (p.Thr3208=)
c.9495C>G (p.Thr3165=)
c.9486C>G (p.Thr3162=)
c.8982C>G (p.Thr2994=)
c.8913C>G (p.Thr2971=)
c.3699C>G (p.Thr1233=)
c.9549C>G (p.Thr3183=)
c.9429C>G (p.Thr3143=)
c.9360C>G (p.Thr3120=)
c.7764C>G (p.Thr2588=)
n.9900C>G
6g.51747992G>TCA450613664PKHD1c.9624C>A (p.Thr3208=)
c.9495C>A (p.Thr3165=)
c.9486C>A (p.Thr3162=)
c.8982C>A (p.Thr2994=)
c.8913C>A (p.Thr2971=)
c.3699C>A (p.Thr1233=)
c.9549C>A (p.Thr3183=)
c.9429C>A (p.Thr3143=)
c.9360C>A (p.Thr3120=)
c.7764C>A (p.Thr2588=)
n.9900C>A
 gnomAD v4
6g.51747993G>ACA364420672PKHD1c.9623C>T (p.Thr3208Ile)
c.9494C>T (p.Thr3165Ile)
c.9485C>T (p.Thr3162Ile)
c.8981C>T (p.Thr2994Ile)
c.8912C>T (p.Thr2971Ile)
c.3698C>T (p.Thr1233Ile)
c.9548C>T (p.Thr3183Ile)
c.9428C>T (p.Thr3143Ile)
c.9359C>T (p.Thr3120Ile)
c.7763C>T (p.Thr2588Ile)
n.9899C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.51747993G>CCA364420673PKHD1c.9623C>G (p.Thr3208Ser)
c.9494C>G (p.Thr3165Ser)
c.9485C>G (p.Thr3162Ser)
c.8981C>G (p.Thr2994Ser)
c.8912C>G (p.Thr2971Ser)
c.3698C>G (p.Thr1233Ser)
c.9548C>G (p.Thr3183Ser)
c.9428C>G (p.Thr3143Ser)
c.9359C>G (p.Thr3120Ser)
c.7763C>G (p.Thr2588Ser)
n.9899C>G
6g.51747993G=CA1628502264PKHD1c.9623C= (p.Thr3208=)
c.9494C= (p.Thr3165=)
c.9485C= (p.Thr3162=)
c.8981C= (p.Thr2994=)
c.8912C= (p.Thr2971=)
c.3698C= (p.Thr1233=)
c.9548C= (p.Thr3183=)
c.9428C= (p.Thr3143=)
c.9359C= (p.Thr3120=)
c.7763C= (p.Thr2588=)
n.9899C=
6g.51747993G>TCA364420674PKHD1c.9623C>A (p.Thr3208Asn)
c.9494C>A (p.Thr3165Asn)
c.9485C>A (p.Thr3162Asn)
c.8981C>A (p.Thr2994Asn)
c.8912C>A (p.Thr2971Asn)
c.3698C>A (p.Thr1233Asn)
c.9548C>A (p.Thr3183Asn)
c.9428C>A (p.Thr3143Asn)
c.9359C>A (p.Thr3120Asn)
c.7763C>A (p.Thr2588Asn)
n.9899C>A
6g.51747994T>ACA364420675PKHD1c.9622A>T (p.Thr3208Ser)
c.9493A>T (p.Thr3165Ser)
c.9484A>T (p.Thr3162Ser)
c.8980A>T (p.Thr2994Ser)
c.8911A>T (p.Thr2971Ser)
c.3697A>T (p.Thr1233Ser)
c.9547A>T (p.Thr3183Ser)
c.9427A>T (p.Thr3143Ser)
c.9358A>T (p.Thr3120Ser)
c.7762A>T (p.Thr2588Ser)
n.9898A>T
6g.51747994T>CCA364420676PKHD1c.9622A>G (p.Thr3208Ala)
c.9493A>G (p.Thr3165Ala)
c.9484A>G (p.Thr3162Ala)
c.8980A>G (p.Thr2994Ala)
c.8911A>G (p.Thr2971Ala)
c.3697A>G (p.Thr1233Ala)
c.9547A>G (p.Thr3183Ala)
c.9427A>G (p.Thr3143Ala)
c.9358A>G (p.Thr3120Ala)
c.7762A>G (p.Thr2588Ala)
n.9898A>G
6g.51747994T>GCA364420677PKHD1c.9622A>C (p.Thr3208Pro)
c.9493A>C (p.Thr3165Pro)
c.9484A>C (p.Thr3162Pro)
c.8980A>C (p.Thr2994Pro)
c.8911A>C (p.Thr2971Pro)
c.3697A>C (p.Thr1233Pro)
c.9547A>C (p.Thr3183Pro)
c.9427A>C (p.Thr3143Pro)
c.9358A>C (p.Thr3120Pro)
c.7762A>C (p.Thr2588Pro)
n.9898A>C
6g.51747995G>ACA450613668PKHD1c.9621C>T (p.Ala3207=)
c.9492C>T (p.Ala3164=)
c.9483C>T (p.Ala3161=)
c.8979C>T (p.Ala2993=)
c.8910C>T (p.Ala2970=)
c.3696C>T (p.Ala1232=)
c.9546C>T (p.Ala3182=)
c.9426C>T (p.Ala3142=)
c.9357C>T (p.Ala3119=)
c.7761C>T (p.Ala2587=)
n.9897C>T
 ClinVar dbSNP
6g.51747995G>CCA450613669PKHD1c.9621C>G (p.Ala3207=)
c.9492C>G (p.Ala3164=)
c.9483C>G (p.Ala3161=)
c.8979C>G (p.Ala2993=)
c.8910C>G (p.Ala2970=)
c.3696C>G (p.Ala1232=)
c.9546C>G (p.Ala3182=)
c.9426C>G (p.Ala3142=)
c.9357C>G (p.Ala3119=)
c.7761C>G (p.Ala2587=)
n.9897C>G
6g.51747995G=CA1628502269PKHD1c.9621C= (p.Ala3207=)
c.9492C= (p.Ala3164=)
c.9483C= (p.Ala3161=)
c.8979C= (p.Ala2993=)
c.8910C= (p.Ala2970=)
c.3696C= (p.Ala1232=)
c.9546C= (p.Ala3182=)
c.9426C= (p.Ala3142=)
c.9357C= (p.Ala3119=)
c.7761C= (p.Ala2587=)
n.9897C=
6g.51747995G>TCA450613670PKHD1c.9621C>A (p.Ala3207=)
c.9492C>A (p.Ala3164=)
c.9483C>A (p.Ala3161=)
c.8979C>A (p.Ala2993=)
c.8910C>A (p.Ala2970=)
c.3696C>A (p.Ala1232=)
c.9546C>A (p.Ala3182=)
c.9426C>A (p.Ala3142=)
c.9357C>A (p.Ala3119=)
c.7761C>A (p.Ala2587=)
n.9897C>A
6g.51747996G>ACA364420678PKHD1c.9620C>T (p.Ala3207Val)
c.9491C>T (p.Ala3164Val)
c.9482C>T (p.Ala3161Val)
c.8978C>T (p.Ala2993Val)
c.8909C>T (p.Ala2970Val)
c.3695C>T (p.Ala1232Val)
c.9545C>T (p.Ala3182Val)
c.9425C>T (p.Ala3142Val)
c.9356C>T (p.Ala3119Val)
c.7760C>T (p.Ala2587Val)
n.9896C>T
6g.51747996G>CCA364420679PKHD1c.9620C>G (p.Ala3207Gly)
c.9491C>G (p.Ala3164Gly)
c.9482C>G (p.Ala3161Gly)
c.8978C>G (p.Ala2993Gly)
c.8909C>G (p.Ala2970Gly)
c.3695C>G (p.Ala1232Gly)
c.9545C>G (p.Ala3182Gly)
c.9425C>G (p.Ala3142Gly)
c.9356C>G (p.Ala3119Gly)
c.7760C>G (p.Ala2587Gly)
n.9896C>G
6g.51747996G>TCA364420680PKHD1c.9620C>A (p.Ala3207Asp)
c.9491C>A (p.Ala3164Asp)
c.9482C>A (p.Ala3161Asp)
c.8978C>A (p.Ala2993Asp)
c.8909C>A (p.Ala2970Asp)
c.3695C>A (p.Ala1232Asp)
c.9545C>A (p.Ala3182Asp)
c.9425C>A (p.Ala3142Asp)
c.9356C>A (p.Ala3119Asp)
c.7760C>A (p.Ala2587Asp)
n.9896C>A
6g.51747997C>ACA364420681PKHD1c.9619G>T (p.Ala3207Ser)
c.9490G>T (p.Ala3164Ser)
c.9481G>T (p.Ala3161Ser)
c.8977G>T (p.Ala2993Ser)
c.8908G>T (p.Ala2970Ser)
c.3694G>T (p.Ala1232Ser)
c.9544G>T (p.Ala3182Ser)
c.9424G>T (p.Ala3142Ser)
c.9355G>T (p.Ala3119Ser)
c.7759G>T (p.Ala2587Ser)
n.9895G>T
 gnomAD v4
6g.51747997C=CA1628502276PKHD1c.9619G= (p.Ala3207=)
c.9490G= (p.Ala3164=)
c.9481G= (p.Ala3161=)
c.8977G= (p.Ala2993=)
c.8908G= (p.Ala2970=)
c.3694G= (p.Ala1232=)
c.9544G= (p.Ala3182=)
c.9424G= (p.Ala3142=)
c.9355G= (p.Ala3119=)
c.7759G= (p.Ala2587=)
n.9895G=
6g.51747997C>GCA364420682PKHD1c.9619G>C (p.Ala3207Pro)
c.9490G>C (p.Ala3164Pro)
c.9481G>C (p.Ala3161Pro)
c.8977G>C (p.Ala2993Pro)
c.8908G>C (p.Ala2970Pro)
c.3694G>C (p.Ala1232Pro)
c.9544G>C (p.Ala3182Pro)
c.9424G>C (p.Ala3142Pro)
c.9355G>C (p.Ala3119Pro)
c.7759G>C (p.Ala2587Pro)
n.9895G>C
6g.51747997C>TCA364420683PKHD1c.9619G>A (p.Ala3207Thr)
c.9490G>A (p.Ala3164Thr)
c.9481G>A (p.Ala3161Thr)
c.8977G>A (p.Ala2993Thr)
c.8908G>A (p.Ala2970Thr)
c.3694G>A (p.Ala1232Thr)
c.9544G>A (p.Ala3182Thr)
c.9424G>A (p.Ala3142Thr)
c.9355G>A (p.Ala3119Thr)
c.7759G>A (p.Ala2587Thr)
n.9895G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.51747998C>ACA138896000PKHD1c.9618G>T (p.Val3206=)
c.9489G>T (p.Val3163=)
c.9480G>T (p.Val3160=)
c.8976G>T (p.Val2992=)
c.8907G>T (p.Val2969=)
c.3693G>T (p.Val1231=)
c.9543G>T (p.Val3181=)
c.9423G>T (p.Val3141=)
c.9354G>T (p.Val3118=)
c.7758G>T (p.Val2586=)
n.9894G>T
 dbSNP
6g.51747998C=CA1628502279PKHD1c.9618G= (p.Val3206=)
c.9489G= (p.Val3163=)
c.9480G= (p.Val3160=)
c.8976G= (p.Val2992=)
c.8907G= (p.Val2969=)
c.3693G= (p.Val1231=)
c.9543G= (p.Val3181=)
c.9423G= (p.Val3141=)
c.9354G= (p.Val3118=)
c.7758G= (p.Val2586=)
n.9894G=
6g.51747998C>GCA450613673PKHD1c.9618G>C (p.Val3206=)
c.9489G>C (p.Val3163=)
c.9480G>C (p.Val3160=)
c.8976G>C (p.Val2992=)
c.8907G>C (p.Val2969=)
c.3693G>C (p.Val1231=)
c.9543G>C (p.Val3181=)
c.9423G>C (p.Val3141=)
c.9354G>C (p.Val3118=)
c.7758G>C (p.Val2586=)
n.9894G>C
6g.51747998C>TCA450613674PKHD1c.9618G>A (p.Val3206=)
c.9489G>A (p.Val3163=)
c.9480G>A (p.Val3160=)
c.8976G>A (p.Val2992=)
c.8907G>A (p.Val2969=)
c.3693G>A (p.Val1231=)
c.9543G>A (p.Val3181=)
c.9423G>A (p.Val3141=)
c.9354G>A (p.Val3118=)
c.7758G>A (p.Val2586=)
n.9894G>A

Number of alleles fetched