Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.52025295C>ACA3852708PKHD1c.4515G>T (p.Arg1505Ser)
c.4102-229G>T (n.4102-229G>T)
c.3804G>T (p.Arg1268Ser)
c.4440G>T (p.Arg1480Ser)
c.4251G>T (p.Arg1417Ser)
c.2655G>T (p.Arg885Ser)
n.4791G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52025295C=CA1628647518PKHD1c.4515G= (p.Arg1505=)
c.4102-229G= (n.4102-229G=)
c.3804G= (p.Arg1268=)
c.4440G= (p.Arg1480=)
c.4251G= (p.Arg1417=)
c.2655G= (p.Arg885=)
n.4791G=
6g.52025295C>GCA364432698PKHD1c.4515G>C (p.Arg1505Ser)
c.4102-229G>C (n.4102-229G>C)
c.3804G>C (p.Arg1268Ser)
c.4440G>C (p.Arg1480Ser)
c.4251G>C (p.Arg1417Ser)
c.2655G>C (p.Arg885Ser)
n.4791G>C
6g.52025295C>TCA450614345PKHD1c.4515G>A (p.Arg1505=)
c.4102-229G>A (n.4102-229G>A)
c.3804G>A (p.Arg1268=)
c.4440G>A (p.Arg1480=)
c.4251G>A (p.Arg1417=)
c.2655G>A (p.Arg885=)
n.4791G>A
6g.52025296C>ACA364432702PKHD1c.4514G>T (p.Arg1505Met)
c.4102-230G>T (n.4102-230G>T)
c.3803G>T (p.Arg1268Met)
c.4439G>T (p.Arg1480Met)
c.4250G>T (p.Arg1417Met)
c.2654G>T (p.Arg885Met)
n.4790G>T
6g.52025296C=CA1628647522PKHD1c.4514G= (p.Arg1505=)
c.4102-230G= (n.4102-230G=)
c.3803G= (p.Arg1268=)
c.4439G= (p.Arg1480=)
c.4250G= (p.Arg1417=)
c.2654G= (p.Arg885=)
n.4790G=
6g.52025296C>GCA364432707PKHD1c.4514G>C (p.Arg1505Thr)
c.4102-230G>C (n.4102-230G>C)
c.3803G>C (p.Arg1268Thr)
c.4439G>C (p.Arg1480Thr)
c.4250G>C (p.Arg1417Thr)
c.2654G>C (p.Arg885Thr)
n.4790G>C
6g.52025296C>TCA3852709PKHD1c.4514G>A (p.Arg1505Lys)
c.4102-230G>A (n.4102-230G>A)
c.3803G>A (p.Arg1268Lys)
c.4439G>A (p.Arg1480Lys)
c.4250G>A (p.Arg1417Lys)
c.2654G>A (p.Arg885Lys)
n.4790G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.52025297T>ACA364432711PKHD1c.4513A>T (p.Arg1505Trp)
c.4102-231A>T (n.4102-231A>T)
c.3802A>T (p.Arg1268Trp)
c.4438A>T (p.Arg1480Trp)
c.4249A>T (p.Arg1417Trp)
c.2653A>T (p.Arg885Trp)
n.4789A>T
6g.52025297T>CCA364432710PKHD1c.4513A>G (p.Arg1505Gly)
c.4102-231A>G (n.4102-231A>G)
c.3802A>G (p.Arg1268Gly)
c.4438A>G (p.Arg1480Gly)
c.4249A>G (p.Arg1417Gly)
c.2653A>G (p.Arg885Gly)
n.4789A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.52025297T>GCA450614346PKHD1c.4513A>C (p.Arg1505=)
c.4102-231A>C (n.4102-231A>C)
c.3802A>C (p.Arg1268=)
c.4438A>C (p.Arg1480=)
c.4249A>C (p.Arg1417=)
c.2653A>C (p.Arg885=)
n.4789A>C
6g.52025297T=CA1628647529PKHD1c.4513A= (p.Arg1505=)
c.4102-231A= (n.4102-231A=)
c.3802A= (p.Arg1268=)
c.4438A= (p.Arg1480=)
c.4249A= (p.Arg1417=)
c.2653A= (p.Arg885=)
n.4789A=
6g.52025298A>CCA364432713PKHD1c.4512T>G (p.Ile1504Met)
c.4102-232T>G (n.4102-232T>G)
c.3801T>G (p.Ile1267Met)
c.4437T>G (p.Ile1479Met)
c.4248T>G (p.Ile1416Met)
c.2652T>G (p.Ile884Met)
n.4788T>G
6g.52025298A>GCA450614351PKHD1c.4512T>C (p.Ile1504=)
c.4102-232T>C (n.4102-232T>C)
c.3801T>C (p.Ile1267=)
c.4437T>C (p.Ile1479=)
c.4248T>C (p.Ile1416=)
c.2652T>C (p.Ile884=)
n.4788T>C
6g.52025298A>TCA450614352PKHD1c.4512T>A (p.Ile1504=)
c.4102-232T>A (n.4102-232T>A)
c.3801T>A (p.Ile1267=)
c.4437T>A (p.Ile1479=)
c.4248T>A (p.Ile1416=)
c.2652T>A (p.Ile884=)
n.4788T>A
 gnomAD v4
6g.52025299A>CCA364432715PKHD1c.4511T>G (p.Ile1504Ser)
c.4102-233T>G (n.4102-233T>G)
c.3800T>G (p.Ile1267Ser)
c.4436T>G (p.Ile1479Ser)
c.4247T>G (p.Ile1416Ser)
c.2651T>G (p.Ile884Ser)
n.4787T>G
6g.52025299A>GCA364432714PKHD1c.4511T>C (p.Ile1504Thr)
c.4102-233T>C (n.4102-233T>C)
c.3800T>C (p.Ile1267Thr)
c.4436T>C (p.Ile1479Thr)
c.4247T>C (p.Ile1416Thr)
c.2651T>C (p.Ile884Thr)
n.4787T>C
6g.52025299A>TCA364432716PKHD1c.4511T>A (p.Ile1504Asn)
c.4102-233T>A (n.4102-233T>A)
c.3800T>A (p.Ile1267Asn)
c.4436T>A (p.Ile1479Asn)
c.4247T>A (p.Ile1416Asn)
c.2651T>A (p.Ile884Asn)
n.4787T>A
6g.52025300T>ACA3852710PKHD1c.4510A>T (p.Ile1504Phe)
c.4102-234A>T (n.4102-234A>T)
c.3799A>T (p.Ile1267Phe)
c.4435A>T (p.Ile1479Phe)
c.4246A>T (p.Ile1416Phe)
c.2650A>T (p.Ile884Phe)
n.4786A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52025300T>CCA364432719PKHD1c.4510A>G (p.Ile1504Val)
c.4102-234A>G (n.4102-234A>G)
c.3799A>G (p.Ile1267Val)
c.4435A>G (p.Ile1479Val)
c.4246A>G (p.Ile1416Val)
c.2650A>G (p.Ile884Val)
n.4786A>G
6g.52025300T>GCA364432720PKHD1c.4510A>C (p.Ile1504Leu)
c.4102-234A>C (n.4102-234A>C)
c.3799A>C (p.Ile1267Leu)
c.4435A>C (p.Ile1479Leu)
c.4246A>C (p.Ile1416Leu)
c.2650A>C (p.Ile884Leu)
n.4786A>C
6g.52025300T=CA1628647533PKHD1c.4510A= (p.Ile1504=)
c.4102-234A= (n.4102-234A=)
c.3799A= (p.Ile1267=)
c.4435A= (p.Ile1479=)
c.4246A= (p.Ile1416=)
c.2650A= (p.Ile884=)
n.4786A=
6g.52025301C>ACA450614354PKHD1c.4509G>T (p.Leu1503=)
c.4102-235G>T (n.4102-235G>T)
c.3798G>T (p.Leu1266=)
c.4434G>T (p.Leu1478=)
c.4245G>T (p.Leu1415=)
c.2649G>T (p.Leu883=)
n.4785G>T
6g.52025301C>GCA450614356PKHD1c.4509G>C (p.Leu1503=)
c.4102-235G>C (n.4102-235G>C)
c.3798G>C (p.Leu1266=)
c.4434G>C (p.Leu1478=)
c.4245G>C (p.Leu1415=)
c.2649G>C (p.Leu883=)
n.4785G>C
6g.52025301C>TCA450614358PKHD1c.4509G>A (p.Leu1503=)
c.4102-235G>A (n.4102-235G>A)
c.3798G>A (p.Leu1266=)
c.4434G>A (p.Leu1478=)
c.4245G>A (p.Leu1415=)
c.2649G>A (p.Leu883=)
n.4785G>A
6g.52025302A=CA1628647535PKHD1c.4508T= (p.Leu1503=)
c.4102-236T= (n.4102-236T=)
c.3797T= (p.Leu1266=)
c.4433T= (p.Leu1478=)
c.4244T= (p.Leu1415=)
c.2648T= (p.Leu883=)
n.4784T=
6g.52025302A>CCA364432723PKHD1c.4508T>G (p.Leu1503Arg)
c.4102-236T>G (n.4102-236T>G)
c.3797T>G (p.Leu1266Arg)
c.4433T>G (p.Leu1478Arg)
c.4244T>G (p.Leu1415Arg)
c.2648T>G (p.Leu883Arg)
n.4784T>G
 dbSNP gnomAD v4
6g.52025302A>GCA364432724PKHD1c.4508T>C (p.Leu1503Pro)
c.4102-236T>C (n.4102-236T>C)
c.3797T>C (p.Leu1266Pro)
c.4433T>C (p.Leu1478Pro)
c.4244T>C (p.Leu1415Pro)
c.2648T>C (p.Leu883Pro)
n.4784T>C
6g.52025302A>TCA364432725PKHD1c.4508T>A (p.Leu1503Gln)
c.4102-236T>A (n.4102-236T>A)
c.3797T>A (p.Leu1266Gln)
c.4433T>A (p.Leu1478Gln)
c.4244T>A (p.Leu1415Gln)
c.2648T>A (p.Leu883Gln)
n.4784T>A
6g.52025303G>ACA450614359PKHD1c.4507C>T (p.Leu1503=)
c.4102-237C>T (n.4102-237C>T)
c.3796C>T (p.Leu1266=)
c.4432C>T (p.Leu1478=)
c.4243C>T (p.Leu1415=)
c.2647C>T (p.Leu883=)
n.4783C>T
6g.52025303G>CCA364432727PKHD1c.4507C>G (p.Leu1503Val)
c.4102-237C>G (n.4102-237C>G)
c.3796C>G (p.Leu1266Val)
c.4432C>G (p.Leu1478Val)
c.4243C>G (p.Leu1415Val)
c.2647C>G (p.Leu883Val)
n.4783C>G
6g.52025303G>TCA364432726PKHD1c.4507C>A (p.Leu1503Met)
c.4102-237C>A (n.4102-237C>A)
c.3796C>A (p.Leu1266Met)
c.4432C>A (p.Leu1478Met)
c.4243C>A (p.Leu1415Met)
c.2647C>A (p.Leu883Met)
n.4783C>A
6g.52025304C>ACA450614361PKHD1c.4506G>T (p.Val1502=)
c.4102-238G>T (n.4102-238G>T)
c.3795G>T (p.Val1265=)
c.4431G>T (p.Val1477=)
c.4242G>T (p.Val1414=)
c.2646G>T (p.Val882=)
n.4782G>T
6g.52025304C>GCA450614364PKHD1c.4506G>C (p.Val1502=)
c.4102-238G>C (n.4102-238G>C)
c.3795G>C (p.Val1265=)
c.4431G>C (p.Val1477=)
c.4242G>C (p.Val1414=)
c.2646G>C (p.Val882=)
n.4782G>C
6g.52025304C>TCA450614365PKHD1c.4506G>A (p.Val1502=)
c.4102-238G>A (n.4102-238G>A)
c.3795G>A (p.Val1265=)
c.4431G>A (p.Val1477=)
c.4242G>A (p.Val1414=)
c.2646G>A (p.Val882=)
n.4782G>A
 ClinVar dbSNP gnomAD v4
6g.52025305A=CA1628647539PKHD1c.4505T= (p.Val1502=)
c.4102-239T= (n.4102-239T=)
c.3794T= (p.Val1265=)
c.4430T= (p.Val1477=)
c.4241T= (p.Val1414=)
c.2645T= (p.Val882=)
n.4781T=
6g.52025305A>CCA364432729PKHD1c.4505T>G (p.Val1502Gly)
c.4102-239T>G (n.4102-239T>G)
c.3794T>G (p.Val1265Gly)
c.4430T>G (p.Val1477Gly)
c.4241T>G (p.Val1414Gly)
c.2645T>G (p.Val882Gly)
n.4781T>G
6g.52025305A>GCA364432737PKHD1c.4505T>C (p.Val1502Ala)
c.4102-239T>C (n.4102-239T>C)
c.3794T>C (p.Val1265Ala)
c.4430T>C (p.Val1477Ala)
c.4241T>C (p.Val1414Ala)
c.2645T>C (p.Val882Ala)
n.4781T>C
6g.52025305A>TCA364432739PKHD1c.4505T>A (p.Val1502Glu)
c.4102-239T>A (n.4102-239T>A)
c.3794T>A (p.Val1265Glu)
c.4430T>A (p.Val1477Glu)
c.4241T>A (p.Val1414Glu)
c.2645T>A (p.Val882Glu)
n.4781T>A
 ClinVar dbSNP
6g.52025306C>ACA3852711PKHD1c.4504G>T (p.Val1502Leu)
c.4102-240G>T (n.4102-240G>T)
c.3793G>T (p.Val1265Leu)
c.4429G>T (p.Val1477Leu)
c.4240G>T (p.Val1414Leu)
c.2644G>T (p.Val882Leu)
n.4780G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.52025306C=CA1628647544PKHD1c.4504G= (p.Val1502=)
c.4102-240G= (n.4102-240G=)
c.3793G= (p.Val1265=)
c.4429G= (p.Val1477=)
c.4240G= (p.Val1414=)
c.2644G= (p.Val882=)
n.4780G=
6g.52025306C>GCA364432744PKHD1c.4504G>C (p.Val1502Leu)
c.4102-240G>C (n.4102-240G>C)
c.3793G>C (p.Val1265Leu)
c.4429G>C (p.Val1477Leu)
c.4240G>C (p.Val1414Leu)
c.2644G>C (p.Val882Leu)
n.4780G>C
 gnomAD v4
6g.52025306C>TCA364432746PKHD1c.4504G>A (p.Val1502Met)
c.4102-240G>A (n.4102-240G>A)
c.3793G>A (p.Val1265Met)
c.4429G>A (p.Val1477Met)
c.4240G>A (p.Val1414Met)
c.2644G>A (p.Val882Met)
n.4780G>A
6g.52025307A=CA1628647549PKHD1c.4503T= (p.Thr1501=)
c.4102-241T= (n.4102-241T=)
c.3792T= (p.Thr1264=)
c.4428T= (p.Thr1476=)
c.4239T= (p.Thr1413=)
c.2643T= (p.Thr881=)
n.4779T=
6g.52025307A>CCA450614371PKHD1c.4503T>G (p.Thr1501=)
c.4102-241T>G (n.4102-241T>G)
c.3792T>G (p.Thr1264=)
c.4428T>G (p.Thr1476=)
c.4239T>G (p.Thr1413=)
c.2643T>G (p.Thr881=)
n.4779T>G
 ClinVar dbSNP
6g.52025307A>GCA450614373PKHD1c.4503T>C (p.Thr1501=)
c.4102-241T>C (n.4102-241T>C)
c.3792T>C (p.Thr1264=)
c.4428T>C (p.Thr1476=)
c.4239T>C (p.Thr1413=)
c.2643T>C (p.Thr881=)
n.4779T>C
 gnomAD v4
6g.52025307A>TCA450614374PKHD1c.4503T>A (p.Thr1501=)
c.4102-241T>A (n.4102-241T>A)
c.3792T>A (p.Thr1264=)
c.4428T>A (p.Thr1476=)
c.4239T>A (p.Thr1413=)
c.2643T>A (p.Thr881=)
n.4779T>A
6g.52025308G>ACA364432748PKHD1c.4502C>T (p.Thr1501Ile)
c.4102-242C>T (n.4102-242C>T)
c.3791C>T (p.Thr1264Ile)
c.4427C>T (p.Thr1476Ile)
c.4238C>T (p.Thr1413Ile)
c.2642C>T (p.Thr881Ile)
n.4778C>T
6g.52025308G>CCA364432752PKHD1c.4502C>G (p.Thr1501Ser)
c.4102-242C>G (n.4102-242C>G)
c.3791C>G (p.Thr1264Ser)
c.4427C>G (p.Thr1476Ser)
c.4238C>G (p.Thr1413Ser)
c.2642C>G (p.Thr881Ser)
n.4778C>G
6g.52025308G>TCA364432751PKHD1c.4502C>A (p.Thr1501Asn)
c.4102-242C>A (n.4102-242C>A)
c.3791C>A (p.Thr1264Asn)
c.4427C>A (p.Thr1476Asn)
c.4238C>A (p.Thr1413Asn)
c.2642C>A (p.Thr881Asn)
n.4778C>A

Number of alleles fetched