Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.12107900_12107911delinsCTTTTCCAGGAGCA1890966381DHTKD1c.2048-9_2050delinsCTTTTCCAGGAG
c.551-9_553delinsCTTTTCCAGGAG
10g.12107901_12107911delCA660765676DHTKD1c.2048-8_2050del
c.551-8_553del
 dbSNP gnomAD v3 gnomAD v4
10g.12107905C>ACA2608250453DHTKD1c.2048-4C>A (n.2048-4C>A)
c.551-4C>A
 gnomAD v4
10g.12107905C=CA1890966386DHTKD1c.2048-4C= (n.2048-4C=)
c.551-4C=
10g.12107905C>TCA5408126DHTKD1c.2048-4C>T (n.2048-4C>T)
c.551-4C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.12107906C>ACA2608250454DHTKD1c.2048-3C>A (n.2048-3C>A)
c.551-3C>A
 gnomAD v4
10g.12107906C>TCA2574503501DHTKD1c.2048-3C>T (n.2048-3C>T)
c.551-3C>T
 gnomAD v4
10g.12107907A>CCA376012102DHTKD1c.2048-2A>C (n.2048-2A>C)
c.551-2A>C
 gnomAD v4
10g.12107907A>GCA376012106DHTKD1c.2048-2A>G (n.2048-2A>G)
c.551-2A>G
 gnomAD v4
10g.12107907A>TCA376012105DHTKD1c.2048-2A>T (n.2048-2A>T)
c.551-2A>T
10g.12107908G>ACA376012109DHTKD1c.2048-1G>A (n.2048-1G>A)
c.551-1G>A
10g.12107908G>CCA376012113DHTKD1c.2048-1G>C (n.2048-1G>C)
c.551-1G>C
10g.12107908G>TCA376012114DHTKD1c.2048-1G>T (n.2048-1G>T)
c.551-1G>T
 gnomAD v4
10g.12107909G>ACA376012115DHTKD1c.2048G>A (p.Gly683Glu)
c.551G>A
 gnomAD v4
10g.12107909G>CCA376012116DHTKD1c.2048G>C (p.Gly683Ala)
c.551G>C
10g.12107909G>TCA376012118DHTKD1c.2048G>T (p.Gly683Val)
c.551G>T
 ClinVar
10g.12107910A>CCA468219592DHTKD1c.2049A>C (p.Gly683=)
c.552A>C
10g.12107910A>GCA468219593DHTKD1c.2049A>G (p.Gly683=)
c.552A>G
10g.12107910A>TCA468219594DHTKD1c.2049A>T (p.Gly683=)
c.552A>T
10g.12107911G>ACA376012139DHTKD1c.2050G>A (p.Glu684Lys)
c.553G>A
 COSMIC
10g.12107911G>CCA376012122DHTKD1c.2050G>C (p.Glu684Gln)
c.553G>C
10g.12107911G>TCA376012136DHTKD1c.2050G>T (p.Glu684Ter)
c.553G>T
10g.12107912A>CCA376012144DHTKD1c.2051A>C (p.Glu684Ala)
c.554A>C
10g.12107912A>GCA376012151DHTKD1c.2051A>G (p.Glu684Gly)
c.554A>G
 gnomAD v4
10g.12107912A>TCA376012155DHTKD1c.2051A>T (p.Glu684Val)
c.554A>T
10g.12107913G>ACA202555430DHTKD1c.2052G>A (p.Glu684=)
c.555G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.12107913G>CCA202555431DHTKD1c.2052G>C (p.Glu684Asp)
c.555G>C
 dbSNP
10g.12107913G=CA1890966390DHTKD1c.2052G= (p.Glu684=)
c.555G=
10g.12107913G>TCA376012163DHTKD1c.2052G>T (p.Glu684Asp)
c.555G>T
10g.12107914G>ACA376012164DHTKD1c.2053G>A (p.Ala685Thr)
c.556G>A
 gnomAD v4
10g.12107914G>CCA376012166DHTKD1c.2053G>C (p.Ala685Pro)
c.556G>C
10g.12107914G>TCA376012165DHTKD1c.2053G>T (p.Ala685Ser)
c.556G>T
10g.12107914_12107925delinsGCCAAGTGGCTCCA1890966393DHTKD1c.2053_2064delinsGCCAAGTGGCTC (p.Ala685=)
c.556_567delinsGCCAAGTGGCTC
10g.12107915C>ACA376012170DHTKD1c.2054C>A (p.Ala685Asp)
c.557C>A
 gnomAD v4
10g.12107915C>GCA376012179DHTKD1c.2054C>G (p.Ala685Gly)
c.557C>G
10g.12107915C>TCA376012183DHTKD1c.2054C>T (p.Ala685Val)
c.557C>T
10g.12107916_12107926delCA660765708DHTKD1c.2055_2065del (p.Lys686ThrfsTer?)
c.558_568del
 dbSNP gnomAD v3 gnomAD v4
10g.12107916C>ACA468219595DHTKD1c.2055C>A (p.Ala685=)
c.558C>A
10g.12107916C>GCA468219596DHTKD1c.2055C>G (p.Ala685=)
c.558C>G
10g.12107916C>TCA468219597DHTKD1c.2055C>T (p.Ala685=)
c.558C>T
10g.12107917A>CCA376012185DHTKD1c.2056A>C (p.Lys686Gln)
c.559A>C
 gnomAD v4
10g.12107917A>GCA376012186DHTKD1c.2056A>G (p.Lys686Glu)
c.559A>G
10g.12107917A>TCA376012187DHTKD1c.2056A>T (p.Lys686Ter)
c.559A>T
10g.12107918A>CCA376012188DHTKD1c.2057A>C (p.Lys686Thr)
c.560A>C
10g.12107918A>GCA376012189DHTKD1c.2057A>G (p.Lys686Arg)
c.560A>G
 gnomAD v4
10g.12107918A>TCA376012191DHTKD1c.2057A>T (p.Lys686Met)
c.560A>T
10g.12107919G>ACA468219599DHTKD1c.2058G>A (p.Lys686=)
c.561G>A
10g.12107919G>CCA376012193DHTKD1c.2058G>C (p.Lys686Asn)
c.561G>C
10g.12107919G>TCA376012194DHTKD1c.2058G>T (p.Lys686Asn)
c.561G>T
10g.12107920T>ACA376012204DHTKD1c.2059T>A (p.Trp687Arg)
c.562T>A

Number of alleles fetched