Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.8117792_8126946delCA2573154518 ClinVar
17g.8121781_8121888delCA2635937286HES7c.385_492del (p.Gly129_His164del)
c.370_477del (p.Gly124_His159del)
c.490_597del (p.Gly164_His199del)
c.481_588del (p.Gly161_His196del)
c.472_579del (p.Gly158_His193del)
c.343_450del (p.Gly115_His150del)
n.69+1967_69+2074del
 gnomAD v4
17g.8121823_8121907delCA2635937562HES7c.366_450del (p.Gln122HisfsTer?)
c.351_435del (p.Gln117HisfsTer?)
c.342_426del (p.Gln114HisfsTer?)
c.471_555del (p.Gln157HisfsTer?)
c.462_546del (p.Gln154HisfsTer?)
c.453_537del (p.Gln151HisfsTer?)
c.324_408del (p.Gln108HisfsTer?)
n.69+2009_69+2093del
 gnomAD v4
17g.8121871C>ACA497955421HES7c.393G>T (p.Leu131=)
c.378G>T (p.Leu126=)
c.369G>T (p.Leu123=)
c.498G>T (p.Leu166=)
c.489G>T (p.Leu163=)
c.480G>T (p.Leu160=)
c.351G>T (p.Leu117=)
n.69+2057C>A
 gnomAD v4
17g.8121871C>GCA497955422HES7c.393G>C (p.Leu131=)
c.378G>C (p.Leu126=)
c.369G>C (p.Leu123=)
c.498G>C (p.Leu166=)
c.489G>C (p.Leu163=)
c.480G>C (p.Leu160=)
c.351G>C (p.Leu117=)
n.69+2057C>G
17g.8121871C>TCA497955423HES7c.393G>A (p.Leu131=)
c.378G>A (p.Leu126=)
c.369G>A (p.Leu123=)
c.498G>A (p.Leu166=)
c.489G>A (p.Leu163=)
c.480G>A (p.Leu160=)
c.351G>A (p.Leu117=)
n.69+2057C>T
 gnomAD v4
17g.8121872A>CCA397988344HES7c.392T>G (p.Leu131Arg)
c.377T>G (p.Leu126Arg)
c.368T>G (p.Leu123Arg)
c.497T>G (p.Leu166Arg)
c.488T>G (p.Leu163Arg)
c.479T>G (p.Leu160Arg)
c.350T>G (p.Leu117Arg)
n.69+2058A>C
17g.8121872A>GCA397988347HES7c.392T>C (p.Leu131Pro)
c.377T>C (p.Leu126Pro)
c.368T>C (p.Leu123Pro)
c.497T>C (p.Leu166Pro)
c.488T>C (p.Leu163Pro)
c.479T>C (p.Leu160Pro)
c.350T>C (p.Leu117Pro)
n.69+2058A>G
 gnomAD v4
17g.8121872A>TCA397988349HES7c.392T>A (p.Leu131Gln)
c.377T>A (p.Leu126Gln)
c.368T>A (p.Leu123Gln)
c.497T>A (p.Leu166Gln)
c.488T>A (p.Leu163Gln)
c.479T>A (p.Leu160Gln)
c.350T>A (p.Leu117Gln)
n.69+2058A>T
17g.8121873G>ACA497955427HES7c.391C>T (p.Leu131=)
c.376C>T (p.Leu126=)
c.367C>T (p.Leu123=)
c.496C>T (p.Leu166=)
c.487C>T (p.Leu163=)
c.478C>T (p.Leu160=)
c.349C>T (p.Leu117=)
n.69+2059G>A
 gnomAD v4
17g.8121873G>CCA397988352HES7c.391C>G (p.Leu131Val)
c.376C>G (p.Leu126Val)
c.367C>G (p.Leu123Val)
c.496C>G (p.Leu166Val)
c.487C>G (p.Leu163Val)
c.478C>G (p.Leu160Val)
c.349C>G (p.Leu117Val)
n.69+2059G>C
17g.8121873G>TCA397988355HES7c.391C>A (p.Leu131Met)
c.376C>A (p.Leu126Met)
c.367C>A (p.Leu123Met)
c.496C>A (p.Leu166Met)
c.487C>A (p.Leu163Met)
c.478C>A (p.Leu160Met)
c.349C>A (p.Leu117Met)
n.69+2059G>T
17g.8121874A=CA2246160577HES7c.390T= (p.Tyr130=)
c.375T= (p.Tyr125=)
c.366T= (p.Tyr122=)
c.495T= (p.Tyr165=)
c.486T= (p.Tyr162=)
c.477T= (p.Tyr159=)
c.348T= (p.Tyr116=)
n.69+2060A=
17g.8121874A>CCA397988359HES7c.390T>G (p.Tyr130Ter)
c.375T>G (p.Tyr125Ter)
c.366T>G (p.Tyr122Ter)
c.495T>G (p.Tyr165Ter)
c.486T>G (p.Tyr162Ter)
c.477T>G (p.Tyr159Ter)
c.348T>G (p.Tyr116Ter)
n.69+2060A>C
17g.8121874A>GCA497955431HES7c.390T>C (p.Tyr130=)
c.375T>C (p.Tyr125=)
c.366T>C (p.Tyr122=)
c.495T>C (p.Tyr165=)
c.486T>C (p.Tyr162=)
c.477T>C (p.Tyr159=)
c.348T>C (p.Tyr116=)
n.69+2060A>G
 dbSNP gnomAD v3 gnomAD v4
17g.8121874A>TCA397988362HES7c.390T>A (p.Tyr130Ter)
c.375T>A (p.Tyr125Ter)
c.366T>A (p.Tyr122Ter)
c.495T>A (p.Tyr165Ter)
c.486T>A (p.Tyr162Ter)
c.477T>A (p.Tyr159Ter)
c.348T>A (p.Tyr116Ter)
n.69+2060A>T
17g.8121875T>ACA397988366HES7c.389A>T (p.Tyr130Phe)
c.374A>T (p.Tyr125Phe)
c.365A>T (p.Tyr122Phe)
c.494A>T (p.Tyr165Phe)
c.485A>T (p.Tyr162Phe)
c.476A>T (p.Tyr159Phe)
c.347A>T (p.Tyr116Phe)
n.69+2061T>A
17g.8121875T>CCA8368649HES7c.389A>G (p.Tyr130Cys)
c.374A>G (p.Tyr125Cys)
c.365A>G (p.Tyr122Cys)
c.494A>G (p.Tyr165Cys)
c.485A>G (p.Tyr162Cys)
c.476A>G (p.Tyr159Cys)
c.347A>G (p.Tyr116Cys)
n.69+2061T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8121875T>GCA397988364HES7c.389A>C (p.Tyr130Ser)
c.374A>C (p.Tyr125Ser)
c.365A>C (p.Tyr122Ser)
c.494A>C (p.Tyr165Ser)
c.485A>C (p.Tyr162Ser)
c.476A>C (p.Tyr159Ser)
c.347A>C (p.Tyr116Ser)
n.69+2061T>G
 ClinVar gnomAD v4
17g.8121875T=CA2246160579HES7c.389A= (p.Tyr130=)
c.374A= (p.Tyr125=)
c.365A= (p.Tyr122=)
c.494A= (p.Tyr165=)
c.485A= (p.Tyr162=)
c.476A= (p.Tyr159=)
c.347A= (p.Tyr116=)
n.69+2061T=
17g.8121876A>CCA397988376HES7c.388T>G (p.Tyr130Asp)
c.373T>G (p.Tyr125Asp)
c.364T>G (p.Tyr122Asp)
c.493T>G (p.Tyr165Asp)
c.484T>G (p.Tyr162Asp)
c.475T>G (p.Tyr159Asp)
c.346T>G (p.Tyr116Asp)
n.69+2062A>C
17g.8121876A>GCA397988371HES7c.388T>C (p.Tyr130His)
c.373T>C (p.Tyr125His)
c.364T>C (p.Tyr122His)
c.493T>C (p.Tyr165His)
c.484T>C (p.Tyr162His)
c.475T>C (p.Tyr159His)
c.346T>C (p.Tyr116His)
n.69+2062A>G
 gnomAD v4
17g.8121876A>TCA397988374HES7c.388T>A (p.Tyr130Asn)
c.373T>A (p.Tyr125Asn)
c.364T>A (p.Tyr122Asn)
c.493T>A (p.Tyr165Asn)
c.484T>A (p.Tyr162Asn)
c.475T>A (p.Tyr159Asn)
c.346T>A (p.Tyr116Asn)
n.69+2062A>T
17g.8121877G>ACA497955439HES7c.387C>T (p.Gly129=)
c.372C>T (p.Gly124=)
c.363C>T (p.Gly121=)
c.492C>T (p.Gly164=)
c.483C>T (p.Gly161=)
c.474C>T (p.Gly158=)
c.345C>T (p.Gly115=)
n.69+2063G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8121877G>CCA497955438HES7c.387C>G (p.Gly129=)
c.372C>G (p.Gly124=)
c.363C>G (p.Gly121=)
c.492C>G (p.Gly164=)
c.483C>G (p.Gly161=)
c.474C>G (p.Gly158=)
c.345C>G (p.Gly115=)
n.69+2063G>C
17g.8121877G=CA2246160586HES7c.387C= (p.Gly129=)
c.372C= (p.Gly124=)
c.363C= (p.Gly121=)
c.492C= (p.Gly164=)
c.483C= (p.Gly161=)
c.474C= (p.Gly158=)
c.345C= (p.Gly115=)
n.69+2063G=
17g.8121877G>TCA497955437HES7c.387C>A (p.Gly129=)
c.372C>A (p.Gly124=)
c.363C>A (p.Gly121=)
c.492C>A (p.Gly164=)
c.483C>A (p.Gly161=)
c.474C>A (p.Gly158=)
c.345C>A (p.Gly115=)
n.69+2063G>T
 gnomAD v4
17g.8121878C>ACA397988379HES7c.386G>T (p.Gly129Val)
c.371G>T (p.Gly124Val)
c.362G>T (p.Gly121Val)
c.491G>T (p.Gly164Val)
c.482G>T (p.Gly161Val)
c.473G>T (p.Gly158Val)
c.344G>T (p.Gly115Val)
n.69+2064C>A
 gnomAD v4
17g.8121878C=CA2246160588HES7c.386G= (p.Gly129=)
c.371G= (p.Gly124=)
c.362G= (p.Gly121=)
c.491G= (p.Gly164=)
c.482G= (p.Gly161=)
c.473G= (p.Gly158=)
c.344G= (p.Gly115=)
n.69+2064C=
17g.8121878C>GCA397988381HES7c.386G>C (p.Gly129Ala)
c.371G>C (p.Gly124Ala)
c.362G>C (p.Gly121Ala)
c.491G>C (p.Gly164Ala)
c.482G>C (p.Gly161Ala)
c.473G>C (p.Gly158Ala)
c.344G>C (p.Gly115Ala)
n.69+2064C>G
17g.8121878C>TCA397988383HES7c.386G>A (p.Gly129Asp)
c.371G>A (p.Gly124Asp)
c.362G>A (p.Gly121Asp)
c.491G>A (p.Gly164Asp)
c.482G>A (p.Gly161Asp)
c.473G>A (p.Gly158Asp)
c.344G>A (p.Gly115Asp)
n.69+2064C>T
 dbSNP gnomAD v2 gnomAD v4
17g.8121879C>ACA397988388HES7c.385G>T (p.Gly129Cys)
c.370G>T (p.Gly124Cys)
c.361G>T (p.Gly121Cys)
c.490G>T (p.Gly164Cys)
c.481G>T (p.Gly161Cys)
c.472G>T (p.Gly158Cys)
c.343G>T (p.Gly115Cys)
n.69+2065C>A
 gnomAD v4
17g.8121879C=CA2246160592HES7c.385G= (p.Gly129=)
c.370G= (p.Gly124=)
c.361G= (p.Gly121=)
c.490G= (p.Gly164=)
c.481G= (p.Gly161=)
c.472G= (p.Gly158=)
c.343G= (p.Gly115=)
n.69+2065C=
17g.8121879C>GCA8368650HES7c.385G>C (p.Gly129Arg)
c.370G>C (p.Gly124Arg)
c.361G>C (p.Gly121Arg)
c.490G>C (p.Gly164Arg)
c.481G>C (p.Gly161Arg)
c.472G>C (p.Gly158Arg)
c.343G>C (p.Gly115Arg)
n.69+2065C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8121879C>TCA397988386HES7c.385G>A (p.Gly129Ser)
c.370G>A (p.Gly124Ser)
c.361G>A (p.Gly121Ser)
c.490G>A (p.Gly164Ser)
c.481G>A (p.Gly161Ser)
c.472G>A (p.Gly158Ser)
c.343G>A (p.Gly115Ser)
n.69+2065C>T
 dbSNP gnomAD v2 gnomAD v4
17g.8121880G>ACA8368652HES7c.384C>T (p.His128=)
c.369C>T (p.His123=)
c.360C>T (p.His120=)
c.489C>T (p.His163=)
c.480C>T (p.His160=)
c.471C>T (p.His157=)
c.342C>T (p.His114=)
n.69+2066G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8121880G>CCA397988391HES7c.384C>G (p.His128Gln)
c.369C>G (p.His123Gln)
c.360C>G (p.His120Gln)
c.489C>G (p.His163Gln)
c.480C>G (p.His160Gln)
c.471C>G (p.His157Gln)
c.342C>G (p.His114Gln)
n.69+2066G>C
17g.8121880G=CA2246160596HES7c.384C= (p.His128=)
c.369C= (p.His123=)
c.360C= (p.His120=)
c.489C= (p.His163=)
c.480C= (p.His160=)
c.471C= (p.His157=)
c.342C= (p.His114=)
n.69+2066G=
17g.8121880G>TCA8368651HES7c.384C>A (p.His128Gln)
c.369C>A (p.His123Gln)
c.360C>A (p.His120Gln)
c.489C>A (p.His163Gln)
c.480C>A (p.His160Gln)
c.471C>A (p.His157Gln)
c.342C>A (p.His114Gln)
n.69+2066G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8121881T>ACA397988394HES7c.383A>T (p.His128Leu)
c.368A>T (p.His123Leu)
c.359A>T (p.His120Leu)
c.488A>T (p.His163Leu)
c.479A>T (p.His160Leu)
c.470A>T (p.His157Leu)
c.341A>T (p.His114Leu)
n.69+2067T>A
17g.8121881T>CCA8368653HES7c.383A>G (p.His128Arg)
c.368A>G (p.His123Arg)
c.359A>G (p.His120Arg)
c.488A>G (p.His163Arg)
c.479A>G (p.His160Arg)
c.470A>G (p.His157Arg)
c.341A>G (p.His114Arg)
n.69+2067T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.8121881T>GCA397988396HES7c.383A>C (p.His128Pro)
c.368A>C (p.His123Pro)
c.359A>C (p.His120Pro)
c.488A>C (p.His163Pro)
c.479A>C (p.His160Pro)
c.470A>C (p.His157Pro)
c.341A>C (p.His114Pro)
n.69+2067T>G
17g.8121881T=CA2246160603HES7c.383A= (p.His128=)
c.368A= (p.His123=)
c.359A= (p.His120=)
c.488A= (p.His163=)
c.479A= (p.His160=)
c.470A= (p.His157=)
c.341A= (p.His114=)
n.69+2067T=
17g.8121882G>ACA397988399HES7c.382C>T (p.His128Tyr)
c.367C>T (p.His123Tyr)
c.358C>T (p.His120Tyr)
c.487C>T (p.His163Tyr)
c.478C>T (p.His160Tyr)
c.469C>T (p.His157Tyr)
c.340C>T (p.His114Tyr)
n.69+2068G>A
 dbSNP gnomAD v2 gnomAD v4
17g.8121882G>CCA397988402HES7c.382C>G (p.His128Asp)
c.367C>G (p.His123Asp)
c.358C>G (p.His120Asp)
c.487C>G (p.His163Asp)
c.478C>G (p.His160Asp)
c.469C>G (p.His157Asp)
c.340C>G (p.His114Asp)
n.69+2068G>C
17g.8121882G=CA2246160610HES7c.382C= (p.His128=)
c.367C= (p.His123=)
c.358C= (p.His120=)
c.487C= (p.His163=)
c.478C= (p.His160=)
c.469C= (p.His157=)
c.340C= (p.His114=)
n.69+2068G=
17g.8121882G>TCA397988400HES7c.382C>A (p.His128Asn)
c.367C>A (p.His123Asn)
c.358C>A (p.His120Asn)
c.487C>A (p.His163Asn)
c.478C>A (p.His160Asn)
c.469C>A (p.His157Asn)
c.340C>A (p.His114Asn)
n.69+2068G>T
 gnomAD v4
17g.8121883C>ACA497955450HES7c.381G>T (p.Leu127=)
c.366G>T (p.Leu122=)
c.357G>T (p.Leu119=)
c.486G>T (p.Leu162=)
c.477G>T (p.Leu159=)
c.468G>T (p.Leu156=)
c.339G>T (p.Leu113=)
n.69+2069C>A
 gnomAD v4
17g.8121883C>GCA497955451HES7c.381G>C (p.Leu127=)
c.366G>C (p.Leu122=)
c.357G>C (p.Leu119=)
c.486G>C (p.Leu162=)
c.477G>C (p.Leu159=)
c.468G>C (p.Leu156=)
c.339G>C (p.Leu113=)
n.69+2069C>G
17g.8121883C>TCA497955452HES7c.381G>A (p.Leu127=)
c.366G>A (p.Leu122=)
c.357G>A (p.Leu119=)
c.486G>A (p.Leu162=)
c.477G>A (p.Leu159=)
c.468G>A (p.Leu156=)
c.339G>A (p.Leu113=)
n.69+2069C>T
 gnomAD v4

Number of alleles fetched