Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.52025247_52025273delinsTCA2695198880PKHD1c.4537_4563delinsA (p.Ala1513ArgfsTer11)
c.4102-207_4102-181delinsA (n.4102-207_4102-181delinsA)
c.3826_3852delinsA (p.Ala1276ArgfsTer11)
c.4462_4488delinsA (p.Ala1488ArgfsTer11)
c.4273_4299delinsA (p.Ala1425ArgfsTer11)
c.2677_2703delinsA (p.Ala893ArgfsTer11)
n.4813_4839delinsA
 ClinVar
6g.52025255_52025273delinsATACCATCGGCTCATCAGCCA1628647431PKHD1c.4537_4555delinsGCTGATGAGCCGATGGTAT (p.Ala1513=)
c.4102-207_4102-189delinsGCTGATGAGCCGATGGTAT (n.4102-207_4102-189delinsGCTGATGAGCCGATGGTAT)
c.3826_3844delinsGCTGATGAGCCGATGGTAT (p.Ala1276=)
c.4462_4480delinsGCTGATGAGCCGATGGTAT (p.Ala1488=)
c.4273_4291delinsGCTGATGAGCCGATGGTAT (p.Ala1425=)
c.2677_2695delinsGCTGATGAGCCGATGGTAT (p.Ala893=)
n.4813_4831delinsGCTGATGAGCCGATGGTAT
6g.52025257_52025274delCA567636253PKHD1c.4537_4554del (p.Ala1513_Val1518del)
c.4102-207_4102-190del (n.4102-207_4102-190del)
c.3826_3843del (p.Ala1276_Val1281del)
c.4462_4479del (p.Ala1488_Val1493del)
c.4273_4290del (p.Ala1425_Val1430del)
c.2677_2694del (p.Ala893_Val898del)
n.4813_4830del
 dbSNP gnomAD v2 gnomAD v4
6g.52025266T>ACA364432525PKHD1c.4544A>T (p.Glu1515Val)
c.4102-200A>T (n.4102-200A>T)
c.3833A>T (p.Glu1278Val)
c.4469A>T (p.Glu1490Val)
c.4280A>T (p.Glu1427Val)
c.2684A>T (p.Glu895Val)
n.4820A>T
6g.52025266T>CCA364432527PKHD1c.4544A>G (p.Glu1515Gly)
c.4102-200A>G (n.4102-200A>G)
c.3833A>G (p.Glu1278Gly)
c.4469A>G (p.Glu1490Gly)
c.4280A>G (p.Glu1427Gly)
c.2684A>G (p.Glu895Gly)
n.4820A>G
 dbSNP gnomAD v2 gnomAD v4
6g.52025266T>GCA364432530PKHD1c.4544A>C (p.Glu1515Ala)
c.4102-200A>C (n.4102-200A>C)
c.3833A>C (p.Glu1278Ala)
c.4469A>C (p.Glu1490Ala)
c.4280A>C (p.Glu1427Ala)
c.2684A>C (p.Glu895Ala)
n.4820A>C
 dbSNP gnomAD v2 gnomAD v4
6g.52025266T=CA1628647457PKHD1c.4544A= (p.Glu1515=)
c.4102-200A= (n.4102-200A=)
c.3833A= (p.Glu1278=)
c.4469A= (p.Glu1490=)
c.4280A= (p.Glu1427=)
c.2684A= (p.Glu895=)
n.4820A=
6g.52025267C>ACA364432533PKHD1c.4543G>T (p.Glu1515Ter)
c.4102-201G>T (n.4102-201G>T)
c.3832G>T (p.Glu1278Ter)
c.4468G>T (p.Glu1490Ter)
c.4279G>T (p.Glu1427Ter)
c.2683G>T (p.Glu895Ter)
n.4819G>T
 ClinVar dbSNP gnomAD v4
6g.52025267C=CA1628647465PKHD1c.4543G= (p.Glu1515=)
c.4102-201G= (n.4102-201G=)
c.3832G= (p.Glu1278=)
c.4468G= (p.Glu1490=)
c.4279G= (p.Glu1427=)
c.2683G= (p.Glu895=)
n.4819G=
6g.52025267C>GCA364432534PKHD1c.4543G>C (p.Glu1515Gln)
c.4102-201G>C (n.4102-201G>C)
c.3832G>C (p.Glu1278Gln)
c.4468G>C (p.Glu1490Gln)
c.4279G>C (p.Glu1427Gln)
c.2683G>C (p.Glu895Gln)
n.4819G>C
6g.52025267C>TCA364432535PKHD1c.4543G>A (p.Glu1515Lys)
c.4102-201G>A (n.4102-201G>A)
c.3832G>A (p.Glu1278Lys)
c.4468G>A (p.Glu1490Lys)
c.4279G>A (p.Glu1427Lys)
c.2683G>A (p.Glu895Lys)
n.4819G>A
 dbSNP gnomAD v2 gnomAD v4
6g.52025268A>CCA364432537PKHD1c.4542T>G (p.Asp1514Glu)
c.4102-202T>G (n.4102-202T>G)
c.3831T>G (p.Asp1277Glu)
c.4467T>G (p.Asp1489Glu)
c.4278T>G (p.Asp1426Glu)
c.2682T>G (p.Asp894Glu)
n.4818T>G
6g.52025268A>GCA450614434PKHD1c.4542T>C (p.Asp1514=)
c.4102-202T>C (n.4102-202T>C)
c.3831T>C (p.Asp1277=)
c.4467T>C (p.Asp1489=)
c.4278T>C (p.Asp1426=)
c.2682T>C (p.Asp894=)
n.4818T>C
 ClinVar
6g.52025268A>TCA364432540PKHD1c.4542T>A (p.Asp1514Glu)
c.4102-202T>A (n.4102-202T>A)
c.3831T>A (p.Asp1277Glu)
c.4467T>A (p.Asp1489Glu)
c.4278T>A (p.Asp1426Glu)
c.2682T>A (p.Asp894Glu)
n.4818T>A
6g.52025269T>ACA364432542PKHD1c.4541A>T (p.Asp1514Val)
c.4102-203A>T (n.4102-203A>T)
c.3830A>T (p.Asp1277Val)
c.4466A>T (p.Asp1489Val)
c.4277A>T (p.Asp1426Val)
c.2681A>T (p.Asp894Val)
n.4817A>T
6g.52025269T>CCA364432545PKHD1c.4541A>G (p.Asp1514Gly)
c.4102-203A>G (n.4102-203A>G)
c.3830A>G (p.Asp1277Gly)
c.4466A>G (p.Asp1489Gly)
c.4277A>G (p.Asp1426Gly)
c.2681A>G (p.Asp894Gly)
n.4817A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.52025269T>GCA364432547PKHD1c.4541A>C (p.Asp1514Ala)
c.4102-203A>C (n.4102-203A>C)
c.3830A>C (p.Asp1277Ala)
c.4466A>C (p.Asp1489Ala)
c.4277A>C (p.Asp1426Ala)
c.2681A>C (p.Asp894Ala)
n.4817A>C
6g.52025269T=CA1628647469PKHD1c.4541A= (p.Asp1514=)
c.4102-203A= (n.4102-203A=)
c.3830A= (p.Asp1277=)
c.4466A= (p.Asp1489=)
c.4277A= (p.Asp1426=)
c.2681A= (p.Asp894=)
n.4817A=
6g.52025270C>ACA364432553PKHD1c.4540G>T (p.Asp1514Tyr)
c.4102-204G>T (n.4102-204G>T)
c.3829G>T (p.Asp1277Tyr)
c.4465G>T (p.Asp1489Tyr)
c.4276G>T (p.Asp1426Tyr)
c.2680G>T (p.Asp894Tyr)
n.4816G>T
6g.52025270C=CA1628647477PKHD1c.4540G= (p.Asp1514=)
c.4102-204G= (n.4102-204G=)
c.3829G= (p.Asp1277=)
c.4465G= (p.Asp1489=)
c.4276G= (p.Asp1426=)
c.2680G= (p.Asp894=)
n.4816G=
6g.52025270C>GCA3852704PKHD1c.4540G>C (p.Asp1514His)
c.4102-204G>C (n.4102-204G>C)
c.3829G>C (p.Asp1277His)
c.4465G>C (p.Asp1489His)
c.4276G>C (p.Asp1426His)
c.2680G>C (p.Asp894His)
n.4816G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.52025270C>TCA364432550PKHD1c.4540G>A (p.Asp1514Asn)
c.4102-204G>A (n.4102-204G>A)
c.3829G>A (p.Asp1277Asn)
c.4465G>A (p.Asp1489Asn)
c.4276G>A (p.Asp1426Asn)
c.2680G>A (p.Asp894Asn)
n.4816G>A
 COSMIC COSMIC
6g.52025271A>CCA450614441PKHD1c.4539T>G (p.Ala1513=)
c.4102-205T>G (n.4102-205T>G)
c.3828T>G (p.Ala1276=)
c.4464T>G (p.Ala1488=)
c.4275T>G (p.Ala1425=)
c.2679T>G (p.Ala893=)
n.4815T>G
6g.52025271A>GCA450614442PKHD1c.4539T>C (p.Ala1513=)
c.4102-205T>C (n.4102-205T>C)
c.3828T>C (p.Ala1276=)
c.4464T>C (p.Ala1488=)
c.4275T>C (p.Ala1425=)
c.2679T>C (p.Ala893=)
n.4815T>C
 ClinVar dbSNP gnomAD v4
6g.52025271A>TCA450614443PKHD1c.4539T>A (p.Ala1513=)
c.4102-205T>A (n.4102-205T>A)
c.3828T>A (p.Ala1276=)
c.4464T>A (p.Ala1488=)
c.4275T>A (p.Ala1425=)
c.2679T>A (p.Ala893=)
n.4815T>A
6g.52025272G>ACA364432561PKHD1c.4538C>T (p.Ala1513Val)
c.4102-206C>T (n.4102-206C>T)
c.3827C>T (p.Ala1276Val)
c.4463C>T (p.Ala1488Val)
c.4274C>T (p.Ala1425Val)
c.2678C>T (p.Ala893Val)
n.4814C>T
6g.52025272G>CCA364432567PKHD1c.4538C>G (p.Ala1513Gly)
c.4102-206C>G (n.4102-206C>G)
c.3827C>G (p.Ala1276Gly)
c.4463C>G (p.Ala1488Gly)
c.4274C>G (p.Ala1425Gly)
c.2678C>G (p.Ala893Gly)
n.4814C>G
6g.52025272G>TCA364432564PKHD1c.4538C>A (p.Ala1513Asp)
c.4102-206C>A (n.4102-206C>A)
c.3827C>A (p.Ala1276Asp)
c.4463C>A (p.Ala1488Asp)
c.4274C>A (p.Ala1425Asp)
c.2678C>A (p.Ala893Asp)
n.4814C>A
 ClinVar
6g.52025273C>ACA364432572PKHD1c.4537G>T (p.Ala1513Ser)
c.4102-207G>T (n.4102-207G>T)
c.3826G>T (p.Ala1276Ser)
c.4462G>T (p.Ala1488Ser)
c.4273G>T (p.Ala1425Ser)
c.2677G>T (p.Ala893Ser)
n.4813G>T
6g.52025273C=CA1628647481PKHD1c.4537G= (p.Ala1513=)
c.4102-207G= (n.4102-207G=)
c.3826G= (p.Ala1276=)
c.4462G= (p.Ala1488=)
c.4273G= (p.Ala1425=)
c.2677G= (p.Ala893=)
n.4813G=
6g.52025273C>GCA364432574PKHD1c.4537G>C (p.Ala1513Pro)
c.4102-207G>C (n.4102-207G>C)
c.3826G>C (p.Ala1276Pro)
c.4462G>C (p.Ala1488Pro)
c.4273G>C (p.Ala1425Pro)
c.2677G>C (p.Ala893Pro)
n.4813G>C
6g.52025273C>TCA364432579PKHD1c.4537G>A (p.Ala1513Thr)
c.4102-207G>A (n.4102-207G>A)
c.3826G>A (p.Ala1276Thr)
c.4462G>A (p.Ala1488Thr)
c.4273G>A (p.Ala1425Thr)
c.2677G>A (p.Ala893Thr)
n.4813G>A
 dbSNP gnomAD v3 gnomAD v4
6g.52025274T>ACA450614448PKHD1c.4536A>T (p.Thr1512=)
c.4102-208A>T (n.4102-208A>T)
c.3825A>T (p.Thr1275=)
c.4461A>T (p.Thr1487=)
c.4272A>T (p.Thr1424=)
c.2676A>T (p.Thr892=)
n.4812A>T
6g.52025274T>CCA450614447PKHD1c.4536A>G (p.Thr1512=)
c.4102-208A>G (n.4102-208A>G)
c.3825A>G (p.Thr1275=)
c.4461A>G (p.Thr1487=)
c.4272A>G (p.Thr1424=)
c.2676A>G (p.Thr892=)
n.4812A>G
6g.52025274T>GCA450614449PKHD1c.4536A>C (p.Thr1512=)
c.4102-208A>C (n.4102-208A>C)
c.3825A>C (p.Thr1275=)
c.4461A>C (p.Thr1487=)
c.4272A>C (p.Thr1424=)
c.2676A>C (p.Thr892=)
n.4812A>C
6g.52025275G>ACA364432581PKHD1c.4535C>T (p.Thr1512Ile)
c.4102-209C>T (n.4102-209C>T)
c.3824C>T (p.Thr1275Ile)
c.4460C>T (p.Thr1487Ile)
c.4271C>T (p.Thr1424Ile)
c.2675C>T (p.Thr892Ile)
n.4811C>T
6g.52025275G>CCA364432583PKHD1c.4535C>G (p.Thr1512Arg)
c.4102-209C>G (n.4102-209C>G)
c.3824C>G (p.Thr1275Arg)
c.4460C>G (p.Thr1487Arg)
c.4271C>G (p.Thr1424Arg)
c.2675C>G (p.Thr892Arg)
n.4811C>G
6g.52025275G>TCA364432584PKHD1c.4535C>A (p.Thr1512Lys)
c.4102-209C>A (n.4102-209C>A)
c.3824C>A (p.Thr1275Lys)
c.4460C>A (p.Thr1487Lys)
c.4271C>A (p.Thr1424Lys)
c.2675C>A (p.Thr892Lys)
n.4811C>A
6g.52025276T>ACA364432587PKHD1c.4534A>T (p.Thr1512Ser)
c.4102-210A>T (n.4102-210A>T)
c.3823A>T (p.Thr1275Ser)
c.4459A>T (p.Thr1487Ser)
c.4270A>T (p.Thr1424Ser)
c.2674A>T (p.Thr892Ser)
n.4810A>T
6g.52025276T>CCA364432588PKHD1c.4534A>G (p.Thr1512Ala)
c.4102-210A>G (n.4102-210A>G)
c.3823A>G (p.Thr1275Ala)
c.4459A>G (p.Thr1487Ala)
c.4270A>G (p.Thr1424Ala)
c.2674A>G (p.Thr892Ala)
n.4810A>G
 gnomAD v4
6g.52025276T>GCA364432599PKHD1c.4534A>C (p.Thr1512Pro)
c.4102-210A>C (n.4102-210A>C)
c.3823A>C (p.Thr1275Pro)
c.4459A>C (p.Thr1487Pro)
c.4270A>C (p.Thr1424Pro)
c.2674A>C (p.Thr892Pro)
n.4810A>C
6g.52025277G>ACA450614452PKHD1c.4533C>T (p.Thr1511=)
c.4102-211C>T (n.4102-211C>T)
c.3822C>T (p.Thr1274=)
c.4458C>T (p.Thr1486=)
c.4269C>T (p.Thr1423=)
c.2673C>T (p.Thr891=)
n.4809C>T
 gnomAD v4
6g.52025277G>CCA138946760PKHD1c.4533C>G (p.Thr1511=)
c.4102-211C>G (n.4102-211C>G)
c.3822C>G (p.Thr1274=)
c.4458C>G (p.Thr1486=)
c.4269C>G (p.Thr1423=)
c.2673C>G (p.Thr891=)
n.4809C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.52025277G=CA1628647483PKHD1c.4533C= (p.Thr1511=)
c.4102-211C= (n.4102-211C=)
c.3822C= (p.Thr1274=)
c.4458C= (p.Thr1486=)
c.4269C= (p.Thr1423=)
c.2673C= (p.Thr891=)
n.4809C=
6g.52025277G>TCA450614453PKHD1c.4533C>A (p.Thr1511=)
c.4102-211C>A (n.4102-211C>A)
c.3822C>A (p.Thr1274=)
c.4458C>A (p.Thr1486=)
c.4269C>A (p.Thr1423=)
c.2673C>A (p.Thr891=)
n.4809C>A
6g.52025278G>ACA364432609PKHD1c.4532C>T (p.Thr1511Ile)
c.4102-212C>T (n.4102-212C>T)
c.3821C>T (p.Thr1274Ile)
c.4457C>T (p.Thr1486Ile)
c.4268C>T (p.Thr1423Ile)
c.2672C>T (p.Thr891Ile)
n.4808C>T
 dbSNP gnomAD v4
6g.52025278G>CCA364432608PKHD1c.4532C>G (p.Thr1511Ser)
c.4102-212C>G (n.4102-212C>G)
c.3821C>G (p.Thr1274Ser)
c.4457C>G (p.Thr1486Ser)
c.4268C>G (p.Thr1423Ser)
c.2672C>G (p.Thr891Ser)
n.4808C>G
6g.52025278G=CA1628647487PKHD1c.4532C= (p.Thr1511=)
c.4102-212C= (n.4102-212C=)
c.3821C= (p.Thr1274=)
c.4457C= (p.Thr1486=)
c.4268C= (p.Thr1423=)
c.2672C= (p.Thr891=)
n.4808C=
6g.52025278G>TCA364432605PKHD1c.4532C>A (p.Thr1511Asn)
c.4102-212C>A (n.4102-212C>A)
c.3821C>A (p.Thr1274Asn)
c.4457C>A (p.Thr1486Asn)
c.4268C>A (p.Thr1423Asn)
c.2672C>A (p.Thr891Asn)
n.4808C>A
6g.52025279T>ACA364432612PKHD1c.4531A>T (p.Thr1511Ser)
c.4102-213A>T (n.4102-213A>T)
c.3820A>T (p.Thr1274Ser)
c.4456A>T (p.Thr1486Ser)
c.4267A>T (p.Thr1423Ser)
c.2671A>T (p.Thr891Ser)
n.4807A>T

Number of alleles fetched