Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.8117792_8126946delCA2573154518 ClinVar
17g.8121759_8121776delCA2576161672HES7c.496_513del (p.Arg166_Gln171del)
c.481_498del (p.Arg161_Gln166del)
c.601_618del (p.Arg201_Gln206del)
c.592_609del (p.Arg198_Gln203del)
c.583_600del (p.Arg195_Gln200del)
c.454_471del (p.Arg152_Gln157del)
n.69+1945_69+1962del
 gnomAD v4
17g.8121760_8121774delCA2808397535HES7c.490_504del (p.His164_Pro168del)
c.475_489del (p.His159_Pro163del)
c.595_609del (p.His199_Pro203del)
c.586_600del (p.His196_Pro200del)
c.577_591del (p.His193_Pro197del)
c.448_462del (p.His150_Pro154del)
n.69+1946_69+1960del
17g.8121771G>ACA397987897HES7c.493C>T (p.Gln165Ter)
c.478C>T (p.Gln160Ter)
c.598C>T (p.Gln200Ter)
c.589C>T (p.Gln197Ter)
c.580C>T (p.Gln194Ter)
c.451C>T (p.Gln151Ter)
n.69+1957G>A
 dbSNP gnomAD v4
17g.8121771G>CCA397987898HES7c.493C>G (p.Gln165Glu)
c.478C>G (p.Gln160Glu)
c.598C>G (p.Gln200Glu)
c.589C>G (p.Gln197Glu)
c.580C>G (p.Gln194Glu)
c.451C>G (p.Gln151Glu)
n.69+1957G>C
17g.8121771G=CA2246160287HES7c.493C= (p.Gln165=)
c.478C= (p.Gln160=)
c.598C= (p.Gln200=)
c.589C= (p.Gln197=)
c.580C= (p.Gln194=)
c.451C= (p.Gln151=)
n.69+1957G=
17g.8121771G>TCA397987900HES7c.493C>A (p.Gln165Lys)
c.478C>A (p.Gln160Lys)
c.598C>A (p.Gln200Lys)
c.589C>A (p.Gln197Lys)
c.580C>A (p.Gln194Lys)
c.451C>A (p.Gln151Lys)
n.69+1957G>T
 dbSNP gnomAD v4
17g.8121772delCA2635937272HES7c.493del (p.Gln165SerfsTer?)
c.478del (p.Gln160SerfsTer?)
c.598del (p.Gln200SerfsTer?)
c.589del (p.Gln197SerfsTer?)
c.580del (p.Gln194SerfsTer?)
c.451del (p.Gln151SerfsTer?)
n.69+1958del
 gnomAD v4
17g.8121772G>ACA8368621HES7c.492C>T (p.His164=)
c.477C>T (p.His159=)
c.597C>T (p.His199=)
c.588C>T (p.His196=)
c.579C>T (p.His193=)
c.450C>T (p.His150=)
n.69+1958G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8121772G>CCA397987905HES7c.492C>G (p.His164Gln)
c.477C>G (p.His159Gln)
c.597C>G (p.His199Gln)
c.588C>G (p.His196Gln)
c.579C>G (p.His193Gln)
c.450C>G (p.His150Gln)
n.69+1958G>C
 gnomAD v4
17g.8121772G=CA2246160292HES7c.492C= (p.His164=)
c.477C= (p.His159=)
c.597C= (p.His199=)
c.588C= (p.His196=)
c.579C= (p.His193=)
c.450C= (p.His150=)
n.69+1958G=
17g.8121772G>TCA397987908HES7c.492C>A (p.His164Gln)
c.477C>A (p.His159Gln)
c.597C>A (p.His199Gln)
c.588C>A (p.His196Gln)
c.579C>A (p.His193Gln)
c.450C>A (p.His150Gln)
n.69+1958G>T
 dbSNP gnomAD v4
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.8121773T>ACA397987912HES7c.491A>T (p.His164Leu)
c.476A>T (p.His159Leu)
c.596A>T (p.His199Leu)
c.587A>T (p.His196Leu)
c.578A>T (p.His193Leu)
c.449A>T (p.His150Leu)
n.69+1959T>A
17g.8121773T>CCA397987914HES7c.491A>G (p.His164Arg)
c.476A>G (p.His159Arg)
c.596A>G (p.His199Arg)
c.587A>G (p.His196Arg)
c.578A>G (p.His193Arg)
c.449A>G (p.His150Arg)
n.69+1959T>C
 dbSNP gnomAD v2 gnomAD v4
17g.8121773T>GCA397987910HES7c.491A>C (p.His164Pro)
c.476A>C (p.His159Pro)
c.596A>C (p.His199Pro)
c.587A>C (p.His196Pro)
c.578A>C (p.His193Pro)
c.449A>C (p.His150Pro)
n.69+1959T>G
17g.8121773T=CA2246160303HES7c.491A= (p.His164=)
c.476A= (p.His159=)
c.596A= (p.His199=)
c.587A= (p.His196=)
c.578A= (p.His193=)
c.449A= (p.His150=)
n.69+1959T=
17g.8121774G>ACA397987918HES7c.490C>T (p.His164Tyr)
c.475C>T (p.His159Tyr)
c.595C>T (p.His199Tyr)
c.586C>T (p.His196Tyr)
c.577C>T (p.His193Tyr)
c.448C>T (p.His150Tyr)
n.69+1960G>A
 dbSNP gnomAD v4
17g.8121774G>CCA397987919HES7c.490C>G (p.His164Asp)
c.475C>G (p.His159Asp)
c.595C>G (p.His199Asp)
c.586C>G (p.His196Asp)
c.577C>G (p.His193Asp)
c.448C>G (p.His150Asp)
n.69+1960G>C
17g.8121774G=CA2246160306HES7c.490C= (p.His164=)
c.475C= (p.His159=)
c.595C= (p.His199=)
c.586C= (p.His196=)
c.577C= (p.His193=)
c.448C= (p.His150=)
n.69+1960G=
17g.8121774G>TCA397987922HES7c.490C>A (p.His164Asn)
c.475C>A (p.His159Asn)
c.595C>A (p.His199Asn)
c.586C>A (p.His196Asn)
c.577C>A (p.His193Asn)
c.448C>A (p.His150Asn)
n.69+1960G>T
 gnomAD v4
17g.8121775C>ACA497955161HES7c.489G>T (p.Leu163=)
c.474G>T (p.Leu158=)
c.594G>T (p.Leu198=)
c.585G>T (p.Leu195=)
c.576G>T (p.Leu192=)
c.447G>T (p.Leu149=)
n.69+1961C>A
 gnomAD v4
17g.8121775C>GCA497955162HES7c.489G>C (p.Leu163=)
c.474G>C (p.Leu158=)
c.594G>C (p.Leu198=)
c.585G>C (p.Leu195=)
c.576G>C (p.Leu192=)
c.447G>C (p.Leu149=)
n.69+1961C>G
17g.8121775C>TCA497955164HES7c.489G>A (p.Leu163=)
c.474G>A (p.Leu158=)
c.594G>A (p.Leu198=)
c.585G>A (p.Leu195=)
c.576G>A (p.Leu192=)
c.447G>A (p.Leu149=)
n.69+1961C>T
 gnomAD v4
17g.8121776A>CCA397987925HES7c.488T>G (p.Leu163Arg)
c.473T>G (p.Leu158Arg)
c.593T>G (p.Leu198Arg)
c.584T>G (p.Leu195Arg)
c.575T>G (p.Leu192Arg)
c.446T>G (p.Leu149Arg)
n.69+1962A>C
17g.8121776A>GCA397987926HES7c.488T>C (p.Leu163Pro)
c.473T>C (p.Leu158Pro)
c.593T>C (p.Leu198Pro)
c.584T>C (p.Leu195Pro)
c.575T>C (p.Leu192Pro)
c.446T>C (p.Leu149Pro)
n.69+1962A>G
 gnomAD v4
17g.8121776A>TCA397987929HES7c.488T>A (p.Leu163Gln)
c.473T>A (p.Leu158Gln)
c.593T>A (p.Leu198Gln)
c.584T>A (p.Leu195Gln)
c.575T>A (p.Leu192Gln)
c.446T>A (p.Leu149Gln)
n.69+1962A>T
17g.8121777G>ACA497955169HES7c.487C>T (p.Leu163=)
c.472C>T (p.Leu158=)
c.592C>T (p.Leu198=)
c.583C>T (p.Leu195=)
c.574C>T (p.Leu192=)
c.445C>T (p.Leu149=)
n.69+1963G>A
 gnomAD v4
17g.8121777G>CCA397987932HES7c.487C>G (p.Leu163Val)
c.472C>G (p.Leu158Val)
c.592C>G (p.Leu198Val)
c.583C>G (p.Leu195Val)
c.574C>G (p.Leu192Val)
c.445C>G (p.Leu149Val)
n.69+1963G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8121777G=CA2246160309HES7c.487C= (p.Leu163=)
c.472C= (p.Leu158=)
c.592C= (p.Leu198=)
c.583C= (p.Leu195=)
c.574C= (p.Leu192=)
c.445C= (p.Leu149=)
n.69+1963G=
17g.8121777G>TCA397987931HES7c.487C>A (p.Leu163Met)
c.472C>A (p.Leu158Met)
c.592C>A (p.Leu198Met)
c.583C>A (p.Leu195Met)
c.574C>A (p.Leu192Met)
c.445C>A (p.Leu149Met)
n.69+1963G>T
 gnomAD v4
17g.8121778C>ACA497955171HES7c.486G>T (p.Ala162=)
c.471G>T (p.Ala157=)
c.591G>T (p.Ala197=)
c.582G>T (p.Ala194=)
c.573G>T (p.Ala191=)
c.444G>T (p.Ala148=)
n.69+1964C>A
 gnomAD v4
17g.8121778C>GCA497955172HES7c.486G>C (p.Ala162=)
c.471G>C (p.Ala157=)
c.591G>C (p.Ala197=)
c.582G>C (p.Ala194=)
c.573G>C (p.Ala191=)
c.444G>C (p.Ala148=)
n.69+1964C>G
17g.8121778C>TCA497955173HES7c.486G>A (p.Ala162=)
c.471G>A (p.Ala157=)
c.591G>A (p.Ala197=)
c.582G>A (p.Ala194=)
c.573G>A (p.Ala191=)
c.444G>A (p.Ala148=)
n.69+1964C>T
 gnomAD v4
17g.8121779G>ACA397987933HES7c.485C>T (p.Ala162Val)
c.470C>T (p.Ala157Val)
c.590C>T (p.Ala197Val)
c.581C>T (p.Ala194Val)
c.572C>T (p.Ala191Val)
c.443C>T (p.Ala148Val)
n.69+1965G>A
 gnomAD v4
17g.8121779G>CCA397987934HES7c.485C>G (p.Ala162Gly)
c.470C>G (p.Ala157Gly)
c.590C>G (p.Ala197Gly)
c.581C>G (p.Ala194Gly)
c.572C>G (p.Ala191Gly)
c.443C>G (p.Ala148Gly)
n.69+1965G>C
 gnomAD v4
17g.8121779G>TCA397987935HES7c.485C>A (p.Ala162Glu)
c.470C>A (p.Ala157Glu)
c.590C>A (p.Ala197Glu)
c.581C>A (p.Ala194Glu)
c.572C>A (p.Ala191Glu)
c.443C>A (p.Ala148Glu)
n.69+1965G>T
 gnomAD v4
17g.8121780C>ACA397987936HES7c.484G>T (p.Ala162Ser)
c.469G>T (p.Ala157Ser)
c.589G>T (p.Ala197Ser)
c.580G>T (p.Ala194Ser)
c.571G>T (p.Ala191Ser)
c.442G>T (p.Ala148Ser)
n.69+1966C>A
 gnomAD v4
17g.8121780C>GCA397987938HES7c.484G>C (p.Ala162Pro)
c.469G>C (p.Ala157Pro)
c.589G>C (p.Ala197Pro)
c.580G>C (p.Ala194Pro)
c.571G>C (p.Ala191Pro)
c.442G>C (p.Ala148Pro)
n.69+1966C>G
17g.8121780C>TCA397987940HES7c.484G>A (p.Ala162Thr)
c.469G>A (p.Ala157Thr)
c.589G>A (p.Ala197Thr)
c.580G>A (p.Ala194Thr)
c.571G>A (p.Ala191Thr)
c.442G>A (p.Ala148Thr)
n.69+1966C>T
 gnomAD v4
17g.8121781A>CCA497955181HES7c.483T>G (p.Pro161=)
c.468T>G (p.Pro156=)
c.588T>G (p.Pro196=)
c.579T>G (p.Pro193=)
c.570T>G (p.Pro190=)
c.441T>G (p.Pro147=)
n.69+1967A>C
17g.8121781A>GCA497955179HES7c.483T>C (p.Pro161=)
c.468T>C (p.Pro156=)
c.588T>C (p.Pro196=)
c.579T>C (p.Pro193=)
c.570T>C (p.Pro190=)
c.441T>C (p.Pro147=)
n.69+1967A>G
 dbSNP gnomAD v4
17g.8121781A>TCA497955178HES7c.483T>A (p.Pro161=)
c.468T>A (p.Pro156=)
c.588T>A (p.Pro196=)
c.579T>A (p.Pro193=)
c.570T>A (p.Pro190=)
c.441T>A (p.Pro147=)
n.69+1967A>T
17g.8121782G>ACA397987941HES7c.482C>T (p.Pro161Leu)
c.467C>T (p.Pro156Leu)
c.587C>T (p.Pro196Leu)
c.578C>T (p.Pro193Leu)
c.569C>T (p.Pro190Leu)
c.440C>T (p.Pro147Leu)
n.69+1968G>A
 gnomAD v4
17g.8121782G>CCA397987946HES7c.482C>G (p.Pro161Arg)
c.467C>G (p.Pro156Arg)
c.587C>G (p.Pro196Arg)
c.578C>G (p.Pro193Arg)
c.569C>G (p.Pro190Arg)
c.440C>G (p.Pro147Arg)
n.69+1968G>C
 dbSNP gnomAD v2 gnomAD v4
17g.8121782G=CA2246160313HES7c.482C= (p.Pro161=)
c.467C= (p.Pro156=)
c.587C= (p.Pro196=)
c.578C= (p.Pro193=)
c.569C= (p.Pro190=)
c.440C= (p.Pro147=)
n.69+1968G=
17g.8121782G>TCA397987943HES7c.482C>A (p.Pro161His)
c.467C>A (p.Pro156His)
c.587C>A (p.Pro196His)
c.578C>A (p.Pro193His)
c.569C>A (p.Pro190His)
c.440C>A (p.Pro147His)
n.69+1968G>T
 gnomAD v4
17g.8121784delCA2635937334HES7c.482del (p.Pro161LeufsTer?)
c.467del (p.Pro156LeufsTer?)
c.587del (p.Pro196LeufsTer?)
c.578del (p.Pro193LeufsTer?)
c.569del (p.Pro190LeufsTer?)
c.440del (p.Pro147LeufsTer?)
n.69+1970del
 gnomAD v4
17g.8121783G>ACA397987948HES7c.481C>T (p.Pro161Ser)
c.466C>T (p.Pro156Ser)
c.586C>T (p.Pro196Ser)
c.577C>T (p.Pro193Ser)
c.568C>T (p.Pro190Ser)
c.439C>T (p.Pro147Ser)
n.69+1969G>A
 gnomAD v4
17g.8121783G>CCA397987951HES7c.481C>G (p.Pro161Ala)
c.466C>G (p.Pro156Ala)
c.586C>G (p.Pro196Ala)
c.577C>G (p.Pro193Ala)
c.568C>G (p.Pro190Ala)
c.439C>G (p.Pro147Ala)
n.69+1969G>C

Number of alleles fetched