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.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
17g.8121783G>TCA397987953HES7c.481C>A (p.Pro161Thr)
c.466C>A (p.Pro156Thr)
c.586C>A (p.Pro196Thr)
c.577C>A (p.Pro193Thr)
c.568C>A (p.Pro190Thr)
c.439C>A (p.Pro147Thr)
n.69+1969G>T
 gnomAD v4
17g.8121784G>ACA497955187HES7c.480C>T (p.Gly160=)
c.465C>T (p.Gly155=)
c.585C>T (p.Gly195=)
c.576C>T (p.Gly192=)
c.567C>T (p.Gly189=)
c.438C>T (p.Gly146=)
n.69+1970G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8121784G>CCA497955188HES7c.480C>G (p.Gly160=)
c.465C>G (p.Gly155=)
c.585C>G (p.Gly195=)
c.576C>G (p.Gly192=)
c.567C>G (p.Gly189=)
c.438C>G (p.Gly146=)
n.69+1970G>C
 gnomAD v4
17g.8121784G=CA2246160314HES7c.480C= (p.Gly160=)
c.465C= (p.Gly155=)
c.585C= (p.Gly195=)
c.576C= (p.Gly192=)
c.567C= (p.Gly189=)
c.438C= (p.Gly146=)
n.69+1970G=
17g.8121784G>TCA497955190HES7c.480C>A (p.Gly160=)
c.465C>A (p.Gly155=)
c.585C>A (p.Gly195=)
c.576C>A (p.Gly192=)
c.567C>A (p.Gly189=)
c.438C>A (p.Gly146=)
n.69+1970G>T
 gnomAD v4
17g.8121785C>ACA397987957HES7c.479G>T (p.Gly160Val)
c.464G>T (p.Gly155Val)
c.584G>T (p.Gly195Val)
c.575G>T (p.Gly192Val)
c.566G>T (p.Gly189Val)
c.437G>T (p.Gly146Val)
n.69+1971C>A
 gnomAD v4
17g.8121785C>GCA397987960HES7c.479G>C (p.Gly160Ala)
c.464G>C (p.Gly155Ala)
c.584G>C (p.Gly195Ala)
c.575G>C (p.Gly192Ala)
c.566G>C (p.Gly189Ala)
c.437G>C (p.Gly146Ala)
n.69+1971C>G
17g.8121785C>TCA397987963HES7c.479G>A (p.Gly160Asp)
c.464G>A (p.Gly155Asp)
c.584G>A (p.Gly195Asp)
c.575G>A (p.Gly192Asp)
c.566G>A (p.Gly189Asp)
c.437G>A (p.Gly146Asp)
n.69+1971C>T
 gnomAD v4
17g.8121786C>ACA397987966HES7c.478G>T (p.Gly160Cys)
c.463G>T (p.Gly155Cys)
c.583G>T (p.Gly195Cys)
c.574G>T (p.Gly192Cys)
c.565G>T (p.Gly189Cys)
c.436G>T (p.Gly146Cys)
n.69+1972C>A
 gnomAD v4
17g.8121786C=CA2246160318HES7c.478G= (p.Gly160=)
c.463G= (p.Gly155=)
c.583G= (p.Gly195=)
c.574G= (p.Gly192=)
c.565G= (p.Gly189=)
c.436G= (p.Gly146=)
n.69+1972C=
17g.8121786C>GCA397987968HES7c.478G>C (p.Gly160Arg)
c.463G>C (p.Gly155Arg)
c.583G>C (p.Gly195Arg)
c.574G>C (p.Gly192Arg)
c.565G>C (p.Gly189Arg)
c.436G>C (p.Gly146Arg)
n.69+1972C>G
17g.8121786C>TCA397987971HES7c.478G>A (p.Gly160Ser)
c.463G>A (p.Gly155Ser)
c.583G>A (p.Gly195Ser)
c.574G>A (p.Gly192Ser)
c.565G>A (p.Gly189Ser)
c.436G>A (p.Gly146Ser)
n.69+1972C>T
 dbSNP gnomAD v3 gnomAD v4
17g.8121787A>CCA497955195HES7c.477T>G (p.Leu159=)
c.462T>G (p.Leu154=)
c.582T>G (p.Leu194=)
c.573T>G (p.Leu191=)
c.564T>G (p.Leu188=)
c.435T>G (p.Leu145=)
n.69+1973A>C
17g.8121787A>GCA497955196HES7c.477T>C (p.Leu159=)
c.462T>C (p.Leu154=)
c.582T>C (p.Leu194=)
c.573T>C (p.Leu191=)
c.564T>C (p.Leu188=)
c.435T>C (p.Leu145=)
n.69+1973A>G
 gnomAD v4
17g.8121787A>TCA497955197HES7c.477T>A (p.Leu159=)
c.462T>A (p.Leu154=)
c.582T>A (p.Leu194=)
c.573T>A (p.Leu191=)
c.564T>A (p.Leu188=)
c.435T>A (p.Leu145=)
n.69+1973A>T
17g.8121788A>CCA397987972HES7c.476T>G (p.Leu159Arg)
c.461T>G (p.Leu154Arg)
c.581T>G (p.Leu194Arg)
c.572T>G (p.Leu191Arg)
c.563T>G (p.Leu188Arg)
c.434T>G (p.Leu145Arg)
n.69+1974A>C
17g.8121788A>GCA397987978HES7c.476T>C (p.Leu159Pro)
c.461T>C (p.Leu154Pro)
c.581T>C (p.Leu194Pro)
c.572T>C (p.Leu191Pro)
c.563T>C (p.Leu188Pro)
c.434T>C (p.Leu145Pro)
n.69+1974A>G
 gnomAD v4
17g.8121788A>TCA397987983HES7c.476T>A (p.Leu159His)
c.461T>A (p.Leu154His)
c.581T>A (p.Leu194His)
c.572T>A (p.Leu191His)
c.563T>A (p.Leu188His)
c.434T>A (p.Leu145His)
n.69+1974A>T
 gnomAD v4
17g.8121789G>ACA397987993HES7c.475C>T (p.Leu159Phe)
c.460C>T (p.Leu154Phe)
c.580C>T (p.Leu194Phe)
c.571C>T (p.Leu191Phe)
c.562C>T (p.Leu188Phe)
c.433C>T (p.Leu145Phe)
n.69+1975G>A
 gnomAD v4
17g.8121789G>CCA397987991HES7c.475C>G (p.Leu159Val)
c.460C>G (p.Leu154Val)
c.580C>G (p.Leu194Val)
c.571C>G (p.Leu191Val)
c.562C>G (p.Leu188Val)
c.433C>G (p.Leu145Val)
n.69+1975G>C
 gnomAD v4
17g.8121789G>TCA397987988HES7c.475C>A (p.Leu159Ile)
c.460C>A (p.Leu154Ile)
c.580C>A (p.Leu194Ile)
c.571C>A (p.Leu191Ile)
c.562C>A (p.Leu188Ile)
c.433C>A (p.Leu145Ile)
n.69+1975G>T
 gnomAD v4
17g.8121790G>ACA497955201HES7c.474C>T (p.Ala158=)
c.459C>T (p.Ala153=)
c.579C>T (p.Ala193=)
c.570C>T (p.Ala190=)
c.561C>T (p.Ala187=)
c.432C>T (p.Ala144=)
n.69+1976G>A
 gnomAD v4
17g.8121790G>CCA497955203HES7c.474C>G (p.Ala158=)
c.459C>G (p.Ala153=)
c.579C>G (p.Ala193=)
c.570C>G (p.Ala190=)
c.561C>G (p.Ala187=)
c.432C>G (p.Ala144=)
n.69+1976G>C
 gnomAD v4
17g.8121790G>TCA497955205HES7c.474C>A (p.Ala158=)
c.459C>A (p.Ala153=)
c.579C>A (p.Ala193=)
c.570C>A (p.Ala190=)
c.561C>A (p.Ala187=)
c.432C>A (p.Ala144=)
n.69+1976G>T
 gnomAD v4
17g.8121791G>ACA8368622HES7c.473C>T (p.Ala158Val)
c.458C>T (p.Ala153Val)
c.578C>T (p.Ala193Val)
c.569C>T (p.Ala190Val)
c.560C>T (p.Ala187Val)
c.431C>T (p.Ala144Val)
n.69+1977G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8121791G>CCA397988000HES7c.473C>G (p.Ala158Gly)
c.458C>G (p.Ala153Gly)
c.578C>G (p.Ala193Gly)
c.569C>G (p.Ala190Gly)
c.560C>G (p.Ala187Gly)
c.431C>G (p.Ala144Gly)
n.69+1977G>C
17g.8121791G=CA2246160321HES7c.473C= (p.Ala158=)
c.458C= (p.Ala153=)
c.578C= (p.Ala193=)
c.569C= (p.Ala190=)
c.560C= (p.Ala187=)
c.431C= (p.Ala144=)
n.69+1977G=
17g.8121791G>TCA397987997HES7c.473C>A (p.Ala158Asp)
c.458C>A (p.Ala153Asp)
c.578C>A (p.Ala193Asp)
c.569C>A (p.Ala190Asp)
c.560C>A (p.Ala187Asp)
c.431C>A (p.Ala144Asp)
n.69+1977G>T
 gnomAD v4
17g.8121792C>ACA8368623HES7c.472G>T (p.Ala158Ser)
c.457G>T (p.Ala153Ser)
c.577G>T (p.Ala193Ser)
c.568G>T (p.Ala190Ser)
c.559G>T (p.Ala187Ser)
c.430G>T (p.Ala144Ser)
n.69+1978C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8121792C=CA2246160326HES7c.472G= (p.Ala158=)
c.457G= (p.Ala153=)
c.577G= (p.Ala193=)
c.568G= (p.Ala190=)
c.559G= (p.Ala187=)
c.430G= (p.Ala144=)
n.69+1978C=
17g.8121792C>GCA397988004HES7c.472G>C (p.Ala158Pro)
c.457G>C (p.Ala153Pro)
c.577G>C (p.Ala193Pro)
c.568G>C (p.Ala190Pro)
c.559G>C (p.Ala187Pro)
c.430G>C (p.Ala144Pro)
n.69+1978C>G
17g.8121792C>TCA397988007HES7c.472G>A (p.Ala158Thr)
c.457G>A (p.Ala153Thr)
c.577G>A (p.Ala193Thr)
c.568G>A (p.Ala190Thr)
c.559G>A (p.Ala187Thr)
c.430G>A (p.Ala144Thr)
n.69+1978C>T
 gnomAD v4
17g.8121793C>ACA497955209HES7c.471G>T (p.Pro157=)
c.456G>T (p.Pro152=)
c.576G>T (p.Pro192=)
c.567G>T (p.Pro189=)
c.558G>T (p.Pro186=)
c.429G>T (p.Pro143=)
n.69+1979C>A
 gnomAD v4
17g.8121793C=CA2246160331HES7c.471G= (p.Pro157=)
c.456G= (p.Pro152=)
c.576G= (p.Pro192=)
c.567G= (p.Pro189=)
c.558G= (p.Pro186=)
c.429G= (p.Pro143=)
n.69+1979C=
17g.8121793C>GCA497955210HES7c.471G>C (p.Pro157=)
c.456G>C (p.Pro152=)
c.576G>C (p.Pro192=)
c.567G>C (p.Pro189=)
c.558G>C (p.Pro186=)
c.429G>C (p.Pro143=)
n.69+1979C>G
17g.8121793C>TCA497955211HES7c.471G>A (p.Pro157=)
c.456G>A (p.Pro152=)
c.576G>A (p.Pro192=)
c.567G>A (p.Pro189=)
c.558G>A (p.Pro186=)
c.429G>A (p.Pro143=)
n.69+1979C>T
 dbSNP gnomAD v4
17g.8121794G>ACA397988016HES7c.470C>T (p.Pro157Leu)
c.455C>T (p.Pro152Leu)
c.575C>T (p.Pro192Leu)
c.566C>T (p.Pro189Leu)
c.557C>T (p.Pro186Leu)
c.428C>T (p.Pro143Leu)
n.69+1980G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8121794G>CCA397988018HES7c.470C>G (p.Pro157Arg)
c.455C>G (p.Pro152Arg)
c.575C>G (p.Pro192Arg)
c.566C>G (p.Pro189Arg)
c.557C>G (p.Pro186Arg)
c.428C>G (p.Pro143Arg)
n.69+1980G>C
17g.8121794G=CA2246160335HES7c.470C= (p.Pro157=)
c.455C= (p.Pro152=)
c.575C= (p.Pro192=)
c.566C= (p.Pro189=)
c.557C= (p.Pro186=)
c.428C= (p.Pro143=)
n.69+1980G=
17g.8121794G>TCA397988020HES7c.470C>A (p.Pro157Gln)
c.455C>A (p.Pro152Gln)
c.575C>A (p.Pro192Gln)
c.566C>A (p.Pro189Gln)
c.557C>A (p.Pro186Gln)
c.428C>A (p.Pro143Gln)
n.69+1980G>T
 gnomAD v4
17g.8121795G>ACA397988023HES7c.469C>T (p.Pro157Ser)
c.454C>T (p.Pro152Ser)
c.574C>T (p.Pro192Ser)
c.565C>T (p.Pro189Ser)
c.556C>T (p.Pro186Ser)
c.427C>T (p.Pro143Ser)
n.69+1981G>A
 dbSNP gnomAD v3 gnomAD v4
17g.8121795G>CCA397988026HES7c.469C>G (p.Pro157Ala)
c.454C>G (p.Pro152Ala)
c.574C>G (p.Pro192Ala)
c.565C>G (p.Pro189Ala)
c.556C>G (p.Pro186Ala)
c.427C>G (p.Pro143Ala)
n.69+1981G>C
 gnomAD v4
17g.8121795G=CA2246160337HES7c.469C= (p.Pro157=)
c.454C= (p.Pro152=)
c.574C= (p.Pro192=)
c.565C= (p.Pro189=)
c.556C= (p.Pro186=)
c.427C= (p.Pro143=)
n.69+1981G=
17g.8121795G>TCA397988028HES7c.469C>A (p.Pro157Thr)
c.454C>A (p.Pro152Thr)
c.574C>A (p.Pro192Thr)
c.565C>A (p.Pro189Thr)
c.556C>A (p.Pro186Thr)
c.427C>A (p.Pro143Thr)
n.69+1981G>T
 gnomAD v4
17g.8121796T>ACA497955215HES7c.468A>T (p.Ala156=)
c.453A>T (p.Ala151=)
c.573A>T (p.Ala191=)
c.564A>T (p.Ala188=)
c.555A>T (p.Ala185=)
c.426A>T (p.Ala142=)
n.69+1982T>A
 gnomAD v4
17g.8121796T>CCA497955216HES7c.468A>G (p.Ala156=)
c.453A>G (p.Ala151=)
c.573A>G (p.Ala191=)
c.564A>G (p.Ala188=)
c.555A>G (p.Ala185=)
c.426A>G (p.Ala142=)
n.69+1982T>C
 gnomAD v4
17g.8121796T>GCA497955217HES7c.468A>C (p.Ala156=)
c.453A>C (p.Ala151=)
c.573A>C (p.Ala191=)
c.564A>C (p.Ala188=)
c.555A>C (p.Ala185=)
c.426A>C (p.Ala142=)
n.69+1982T>G
17g.8121797G>ACA397988031HES7c.467C>T (p.Ala156Val)
c.452C>T (p.Ala151Val)
c.572C>T (p.Ala191Val)
c.563C>T (p.Ala188Val)
c.554C>T (p.Ala185Val)
c.425C>T (p.Ala142Val)
n.69+1983G>A
 gnomAD v4
17g.8121797G>CCA397988034HES7c.467C>G (p.Ala156Gly)
c.452C>G (p.Ala151Gly)
c.572C>G (p.Ala191Gly)
c.563C>G (p.Ala188Gly)
c.554C>G (p.Ala185Gly)
c.425C>G (p.Ala142Gly)
n.69+1983G>C
17g.8121797G>TCA397988037HES7c.467C>A (p.Ala156Glu)
c.452C>A (p.Ala151Glu)
c.572C>A (p.Ala191Glu)
c.563C>A (p.Ala188Glu)
c.554C>A (p.Ala185Glu)
c.425C>A (p.Ala142Glu)
n.69+1983G>T
 gnomAD v4
17g.8121798C>ACA397988044HES7c.466G>T (p.Ala156Ser)
c.451G>T (p.Ala151Ser)
c.571G>T (p.Ala191Ser)
c.562G>T (p.Ala188Ser)
c.553G>T (p.Ala185Ser)
c.424G>T (p.Ala142Ser)
n.69+1984C>A
 ClinVar dbSNP gnomAD v4
17g.8121798C=CA2246160340HES7c.466G= (p.Ala156=)
c.451G= (p.Ala151=)
c.571G= (p.Ala191=)
c.562G= (p.Ala188=)
c.553G= (p.Ala185=)
c.424G= (p.Ala142=)
n.69+1984C=
17g.8121798C>GCA397988040HES7c.466G>C (p.Ala156Pro)
c.451G>C (p.Ala151Pro)
c.571G>C (p.Ala191Pro)
c.562G>C (p.Ala188Pro)
c.553G>C (p.Ala185Pro)
c.424G>C (p.Ala142Pro)
n.69+1984C>G
 gnomAD v4
17g.8121798C>TCA397988042HES7c.466G>A (p.Ala156Thr)
c.451G>A (p.Ala151Thr)
c.571G>A (p.Ala191Thr)
c.562G>A (p.Ala188Thr)
c.553G>A (p.Ala185Thr)
c.424G>A (p.Ala142Thr)
n.69+1984C>T
 dbSNP gnomAD v4
17g.8121799G>ACA8368624HES7c.465C>T (p.Ala155=)
c.450C>T (p.Ala150=)
c.570C>T (p.Ala190=)
c.561C>T (p.Ala187=)
c.552C>T (p.Ala184=)
c.423C>T (p.Ala141=)
n.69+1985G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8121799G>CCA497955219HES7c.465C>G (p.Ala155=)
c.450C>G (p.Ala150=)
c.570C>G (p.Ala190=)
c.561C>G (p.Ala187=)
c.552C>G (p.Ala184=)
c.423C>G (p.Ala141=)
n.69+1985G>C
17g.8121799G=CA2246160344HES7c.465C= (p.Ala155=)
c.450C= (p.Ala150=)
c.570C= (p.Ala190=)
c.561C= (p.Ala187=)
c.552C= (p.Ala184=)
c.423C= (p.Ala141=)
n.69+1985G=
17g.8121799G>TCA497955222HES7c.465C>A (p.Ala155=)
c.450C>A (p.Ala150=)
c.570C>A (p.Ala190=)
c.561C>A (p.Ala187=)
c.552C>A (p.Ala184=)
c.423C>A (p.Ala141=)
n.69+1985G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8121800G>ACA397988048HES7c.464C>T (p.Ala155Val)
c.449C>T (p.Ala150Val)
c.569C>T (p.Ala190Val)
c.560C>T (p.Ala187Val)
c.551C>T (p.Ala184Val)
c.422C>T (p.Ala141Val)
n.69+1986G>A
 gnomAD v4
17g.8121800G>CCA397988049HES7c.464C>G (p.Ala155Gly)
c.449C>G (p.Ala150Gly)
c.569C>G (p.Ala190Gly)
c.560C>G (p.Ala187Gly)
c.551C>G (p.Ala184Gly)
c.422C>G (p.Ala141Gly)
n.69+1986G>C
17g.8121800G>TCA397988050HES7c.464C>A (p.Ala155Asp)
c.449C>A (p.Ala150Asp)
c.569C>A (p.Ala190Asp)
c.560C>A (p.Ala187Asp)
c.551C>A (p.Ala184Asp)
c.422C>A (p.Ala141Asp)
n.69+1986G>T
 gnomAD v4
17g.8121801C>ACA397988053HES7c.463G>T (p.Ala155Ser)
c.448G>T (p.Ala150Ser)
c.568G>T (p.Ala190Ser)
c.559G>T (p.Ala187Ser)
c.550G>T (p.Ala184Ser)
c.421G>T (p.Ala141Ser)
n.69+1987C>A
 gnomAD v4
17g.8121801C=CA2246160350HES7c.463G= (p.Ala155=)
c.448G= (p.Ala150=)
c.568G= (p.Ala190=)
c.559G= (p.Ala187=)
c.550G= (p.Ala184=)
c.421G= (p.Ala141=)
n.69+1987C=
17g.8121801C>GCA397988055HES7c.463G>C (p.Ala155Pro)
c.448G>C (p.Ala150Pro)
c.568G>C (p.Ala190Pro)
c.559G>C (p.Ala187Pro)
c.550G>C (p.Ala184Pro)
c.421G>C (p.Ala141Pro)
n.69+1987C>G
17g.8121801C>TCA397988058HES7c.463G>A (p.Ala155Thr)
c.448G>A (p.Ala150Thr)
c.568G>A (p.Ala190Thr)
c.559G>A (p.Ala187Thr)
c.550G>A (p.Ala184Thr)
c.421G>A (p.Ala141Thr)
n.69+1987C>T
 dbSNP gnomAD v3 gnomAD v4
17g.8121802G>ACA497955229HES7c.462C>T (p.Pro154=)
c.447C>T (p.Pro149=)
c.567C>T (p.Pro189=)
c.558C>T (p.Pro186=)
c.549C>T (p.Pro183=)
c.420C>T (p.Pro140=)
n.69+1988G>A
 ClinVar gnomAD v4
17g.8121802G>CCA497955228HES7c.462C>G (p.Pro154=)
c.447C>G (p.Pro149=)
c.567C>G (p.Pro189=)
c.558C>G (p.Pro186=)
c.549C>G (p.Pro183=)
c.420C>G (p.Pro140=)
n.69+1988G>C
17g.8121802G=CA2246160354HES7c.462C= (p.Pro154=)
c.447C= (p.Pro149=)
c.567C= (p.Pro189=)
c.558C= (p.Pro186=)
c.549C= (p.Pro183=)
c.420C= (p.Pro140=)
n.69+1988G=
17g.8121802G>TCA497955227HES7c.462C>A (p.Pro154=)
c.447C>A (p.Pro149=)
c.567C>A (p.Pro189=)
c.558C>A (p.Pro186=)
c.549C>A (p.Pro183=)
c.420C>A (p.Pro140=)
n.69+1988G>T
 gnomAD v4
17g.8121802_8121803insCTCA2576161673HES7c.461_462insAG (p.Ala156ProfsTer?)
c.446_447insAG (p.Ala151ProfsTer?)
c.566_567insAG (p.Ala191ProfsTer?)
c.557_558insAG (p.Ala188ProfsTer?)
c.548_549insAG (p.Ala185ProfsTer?)
c.419_420insAG (p.Ala142ProfsTer?)
n.69+1988_69+1989insCT
17g.8121803G>ACA397988061HES7c.461C>T (p.Pro154Leu)
c.446C>T (p.Pro149Leu)
c.566C>T (p.Pro189Leu)
c.557C>T (p.Pro186Leu)
c.548C>T (p.Pro183Leu)
c.419C>T (p.Pro140Leu)
n.69+1989G>A
 dbSNP gnomAD v2 gnomAD v4
17g.8121803G>CCA397988064HES7c.461C>G (p.Pro154Arg)
c.446C>G (p.Pro149Arg)
c.566C>G (p.Pro189Arg)
c.557C>G (p.Pro186Arg)
c.548C>G (p.Pro183Arg)
c.419C>G (p.Pro140Arg)
n.69+1989G>C
17g.8121803G=CA2246160358HES7c.461C= (p.Pro154=)
c.446C= (p.Pro149=)
c.566C= (p.Pro189=)
c.557C= (p.Pro186=)
c.548C= (p.Pro183=)
c.419C= (p.Pro140=)
n.69+1989G=
17g.8121803G>TCA397988065HES7c.461C>A (p.Pro154His)
c.446C>A (p.Pro149His)
c.566C>A (p.Pro189His)
c.557C>A (p.Pro186His)
c.548C>A (p.Pro183His)
c.419C>A (p.Pro140His)
n.69+1989G>T
 gnomAD v4
17g.8121805_8121828dupCA8368625HES7c.438_461dup (p.Pro154_Ala155insAlaProArgProSerLeuAspPro)
c.423_446dup (p.Pro149_Ala150insAlaProArgProSerLeuAspPro)
c.543_566dup (p.Pro189_Ala190insAlaProArgProSerLeuAspPro)
c.534_557dup (p.Pro186_Ala187insAlaProArgProSerLeuAspPro)
c.525_548dup (p.Pro183_Ala184insAlaProArgProSerLeuAspPro)
c.396_419dup (p.Pro140_Ala141insAlaProArgProSerLeuAspPro)
n.69+1991_69+2014dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.8121804G>ACA397988070HES7c.460C>T (p.Pro154Ser)
c.445C>T (p.Pro149Ser)
c.436C>T
c.565C>T (p.Pro189Ser)
c.556C>T (p.Pro186Ser)
c.547C>T (p.Pro183Ser)
c.418C>T (p.Pro140Ser)
n.69+1990G>A
17g.8121804G>CCA8368626HES7c.460C>G (p.Pro154Ala)
c.445C>G (p.Pro149Ala)
c.436C>G
c.565C>G (p.Pro189Ala)
c.556C>G (p.Pro186Ala)
c.547C>G (p.Pro183Ala)
c.418C>G (p.Pro140Ala)
n.69+1990G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8121804G=CA2246160364HES7c.460C= (p.Pro154=)
c.445C= (p.Pro149=)
c.436C=
c.565C= (p.Pro189=)
c.556C= (p.Pro186=)
c.547C= (p.Pro183=)
c.418C= (p.Pro140=)
n.69+1990G=
17g.8121804G>TCA397988067HES7c.460C>A (p.Pro154Thr)
c.445C>A (p.Pro149Thr)
c.436C>A
c.565C>A (p.Pro189Thr)
c.556C>A (p.Pro186Thr)
c.547C>A (p.Pro183Thr)
c.418C>A (p.Pro140Thr)
n.69+1990G>T
 dbSNP gnomAD v2 gnomAD v4
17g.8121805G>ACA8368627HES7c.459C>T (p.Asp153=)
c.444C>T (p.Asp148=)
c.435C>T (p.Asp145=)
c.564C>T (p.Asp188=)
c.555C>T (p.Asp185=)
c.546C>T (p.Asp182=)
c.417C>T (p.Asp139=)
n.69+1991G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8121805G>CCA397988073HES7c.459C>G (p.Asp153Glu)
c.444C>G (p.Asp148Glu)
c.435C>G (p.Asp145Glu)
c.564C>G (p.Asp188Glu)
c.555C>G (p.Asp185Glu)
c.546C>G (p.Asp182Glu)
c.417C>G (p.Asp139Glu)
n.69+1991G>C
17g.8121805G=CA2246160369HES7c.459C= (p.Asp153=)
c.444C= (p.Asp148=)
c.435C= (p.Asp145=)
c.564C= (p.Asp188=)
c.555C= (p.Asp185=)
c.546C= (p.Asp182=)
c.417C= (p.Asp139=)
n.69+1991G=
17g.8121805G>TCA397988075HES7c.459C>A (p.Asp153Glu)
c.444C>A (p.Asp148Glu)
c.435C>A (p.Asp145Glu)
c.564C>A (p.Asp188Glu)
c.555C>A (p.Asp185Glu)
c.546C>A (p.Asp182Glu)
c.417C>A (p.Asp139Glu)
n.69+1991G>T
 dbSNP
17g.8121806T>ACA397988077HES7c.458A>T (p.Asp153Val)
c.443A>T (p.Asp148Val)
c.434A>T (p.Asp145Val)
c.563A>T (p.Asp188Val)
c.554A>T (p.Asp185Val)
c.545A>T (p.Asp182Val)
c.416A>T (p.Asp139Val)
n.69+1992T>A
17g.8121806T>CCA397988079HES7c.458A>G (p.Asp153Gly)
c.443A>G (p.Asp148Gly)
c.434A>G (p.Asp145Gly)
c.563A>G (p.Asp188Gly)
c.554A>G (p.Asp185Gly)
c.545A>G (p.Asp182Gly)
c.416A>G (p.Asp139Gly)
n.69+1992T>C
 gnomAD v4
17g.8121806T>GCA397988080HES7c.458A>C (p.Asp153Ala)
c.443A>C (p.Asp148Ala)
c.434A>C (p.Asp145Ala)
c.563A>C (p.Asp188Ala)
c.554A>C (p.Asp185Ala)
c.545A>C (p.Asp182Ala)
c.416A>C (p.Asp139Ala)
n.69+1992T>G
17g.8121807C>ACA397988085HES7c.457G>T (p.Asp153Tyr)
c.442G>T (p.Asp148Tyr)
c.433G>T (p.Asp145Tyr)
c.562G>T (p.Asp188Tyr)
c.553G>T (p.Asp185Tyr)
c.544G>T (p.Asp182Tyr)
c.415G>T (p.Asp139Tyr)
n.69+1993C>A
 gnomAD v4
17g.8121807C=CA2246160373HES7c.457G= (p.Asp153=)
c.442G= (p.Asp148=)
c.433G= (p.Asp145=)
c.562G= (p.Asp188=)
c.553G= (p.Asp185=)
c.544G= (p.Asp182=)
c.415G= (p.Asp139=)
n.69+1993C=
17g.8121807C>GCA397988082HES7c.457G>C (p.Asp153His)
c.442G>C (p.Asp148His)
c.433G>C (p.Asp145His)
c.562G>C (p.Asp188His)
c.553G>C (p.Asp185His)
c.544G>C (p.Asp182His)
c.415G>C (p.Asp139His)
n.69+1993C>G
17g.8121807C>TCA397988084HES7c.457G>A (p.Asp153Asn)
c.442G>A (p.Asp148Asn)
c.433G>A (p.Asp145Asn)
c.562G>A (p.Asp188Asn)
c.553G>A (p.Asp185Asn)
c.544G>A (p.Asp182Asn)
c.415G>A (p.Asp139Asn)
n.69+1993C>T
 dbSNP gnomAD v2 gnomAD v4
17g.8121808C>ACA497955240HES7c.456G>T (p.Leu152=)
c.441G>T (p.Leu147=)
c.432G>T (p.Leu144=)
c.561G>T (p.Leu187=)
c.552G>T (p.Leu184=)
c.543G>T (p.Leu181=)
c.414G>T (p.Leu138=)
n.69+1994C>A
 gnomAD v4
17g.8121808C>GCA497955241HES7c.456G>C (p.Leu152=)
c.441G>C (p.Leu147=)
c.432G>C (p.Leu144=)
c.561G>C (p.Leu187=)
c.552G>C (p.Leu184=)
c.543G>C (p.Leu181=)
c.414G>C (p.Leu138=)
n.69+1994C>G
17g.8121808C>TCA497955243HES7c.456G>A (p.Leu152=)
c.441G>A (p.Leu147=)
c.432G>A (p.Leu144=)
c.561G>A (p.Leu187=)
c.552G>A (p.Leu184=)
c.543G>A (p.Leu181=)
c.414G>A (p.Leu138=)
n.69+1994C>T
 gnomAD v4
17g.8121809A>CCA397988086HES7c.455T>G (p.Leu152Arg)
c.440T>G (p.Leu147Arg)
c.431T>G (p.Leu144Arg)
c.560T>G (p.Leu187Arg)
c.551T>G (p.Leu184Arg)
c.542T>G (p.Leu181Arg)
c.413T>G (p.Leu138Arg)
n.69+1995A>C
17g.8121809A>GCA397988087HES7c.455T>C (p.Leu152Pro)
c.440T>C (p.Leu147Pro)
c.431T>C (p.Leu144Pro)
c.560T>C (p.Leu187Pro)
c.551T>C (p.Leu184Pro)
c.542T>C (p.Leu181Pro)
c.413T>C (p.Leu138Pro)
n.69+1995A>G
 gnomAD v4
17g.8121809A>TCA397988088HES7c.455T>A (p.Leu152Gln)
c.440T>A (p.Leu147Gln)
c.431T>A (p.Leu144Gln)
c.560T>A (p.Leu187Gln)
c.551T>A (p.Leu184Gln)
c.542T>A (p.Leu181Gln)
c.413T>A (p.Leu138Gln)
n.69+1995A>T
 gnomAD v4
17g.8121810G>ACA497955246HES7c.454C>T (p.Leu152=)
c.439C>T (p.Leu147=)
c.430C>T (p.Leu144=)
c.559C>T (p.Leu187=)
c.550C>T (p.Leu184=)
c.541C>T (p.Leu181=)
c.412C>T (p.Leu138=)
n.69+1996G>A
 gnomAD v4
17g.8121810G>CCA397988090HES7c.454C>G (p.Leu152Val)
c.439C>G (p.Leu147Val)
c.430C>G (p.Leu144Val)
c.559C>G (p.Leu187Val)
c.550C>G (p.Leu184Val)
c.541C>G (p.Leu181Val)
c.412C>G (p.Leu138Val)
n.69+1996G>C
 dbSNP
17g.8121810G=CA2246160375HES7c.454C= (p.Leu152=)
c.439C= (p.Leu147=)
c.430C= (p.Leu144=)
c.559C= (p.Leu187=)
c.550C= (p.Leu184=)
c.541C= (p.Leu181=)
c.412C= (p.Leu138=)
n.69+1996G=
17g.8121810G>TCA397988091HES7c.454C>A (p.Leu152Met)
c.439C>A (p.Leu147Met)
c.430C>A (p.Leu144Met)
c.559C>A (p.Leu187Met)
c.550C>A (p.Leu184Met)
c.541C>A (p.Leu181Met)
c.412C>A (p.Leu138Met)
n.69+1996G>T
 gnomAD v4
17g.8121811G>ACA497955247HES7c.453C>T (p.Ser151=)
c.438C>T (p.Ser146=)
c.429C>T (p.Ser143=)
c.558C>T (p.Ser186=)
c.549C>T (p.Ser183=)
c.540C>T (p.Ser180=)
c.411C>T (p.Ser137=)
n.69+1997G>A
 gnomAD v4
17g.8121811G>CCA497955248HES7c.453C>G (p.Ser151=)
c.438C>G (p.Ser146=)
c.429C>G (p.Ser143=)
c.558C>G (p.Ser186=)
c.549C>G (p.Ser183=)
c.540C>G (p.Ser180=)
c.411C>G (p.Ser137=)
n.69+1997G>C
 gnomAD v4
17g.8121811G>TCA497955249HES7c.453C>A (p.Ser151=)
c.438C>A (p.Ser146=)
c.429C>A (p.Ser143=)
c.558C>A (p.Ser186=)
c.549C>A (p.Ser183=)
c.540C>A (p.Ser180=)
c.411C>A (p.Ser137=)
n.69+1997G>T
 gnomAD v4
17g.8121812G>ACA397988093HES7c.452C>T (p.Ser151Phe)
c.437C>T (p.Ser146Phe)
c.428C>T (p.Ser143Phe)
c.557C>T (p.Ser186Phe)
c.548C>T (p.Ser183Phe)
c.539C>T (p.Ser180Phe)
c.410C>T (p.Ser137Phe)
n.69+1998G>A
 gnomAD v4
17g.8121812G>CCA397988096HES7c.452C>G (p.Ser151Cys)
c.437C>G (p.Ser146Cys)
c.428C>G (p.Ser143Cys)
c.557C>G (p.Ser186Cys)
c.548C>G (p.Ser183Cys)
c.539C>G (p.Ser180Cys)
c.410C>G (p.Ser137Cys)
n.69+1998G>C
 dbSNP gnomAD v3 gnomAD v4
17g.8121812G>TCA397988095HES7c.452C>A (p.Ser151Tyr)
c.437C>A (p.Ser146Tyr)
c.428C>A (p.Ser143Tyr)
c.557C>A (p.Ser186Tyr)
c.548C>A (p.Ser183Tyr)
c.539C>A (p.Ser180Tyr)
c.410C>A (p.Ser137Tyr)
n.69+1998G>T
 gnomAD v4
17g.8121813A>CCA397988098HES7c.451T>G (p.Ser151Ala)
c.436T>G (p.Ser146Ala)
c.427T>G (p.Ser143Ala)
c.556T>G (p.Ser186Ala)
c.547T>G (p.Ser183Ala)
c.538T>G (p.Ser180Ala)
c.409T>G (p.Ser137Ala)
n.69+1999A>C
17g.8121813A>GCA397988100HES7c.451T>C (p.Ser151Pro)
c.436T>C (p.Ser146Pro)
c.427T>C (p.Ser143Pro)
c.556T>C (p.Ser186Pro)
c.547T>C (p.Ser183Pro)
c.538T>C (p.Ser180Pro)
c.409T>C (p.Ser137Pro)
n.69+1999A>G
 gnomAD v4
17g.8121813A>TCA397988102HES7c.451T>A (p.Ser151Thr)
c.436T>A (p.Ser146Thr)
c.427T>A (p.Ser143Thr)
c.556T>A (p.Ser186Thr)
c.547T>A (p.Ser183Thr)
c.538T>A (p.Ser180Thr)
c.409T>A (p.Ser137Thr)
n.69+1999A>T
17g.8121814T>ACA497955256HES7c.450A>T (p.Pro150=)
c.435A>T (p.Pro145=)
c.426A>T (p.Pro142=)
c.555A>T (p.Pro185=)
c.546A>T (p.Pro182=)
c.537A>T (p.Pro179=)
c.408A>T (p.Pro136=)
n.69+2000T>A
17g.8121814T>CCA497955261HES7c.450A>G (p.Pro150=)
c.435A>G (p.Pro145=)
c.426A>G (p.Pro142=)
c.555A>G (p.Pro185=)
c.546A>G (p.Pro182=)
c.537A>G (p.Pro179=)
c.408A>G (p.Pro136=)
n.69+2000T>C
17g.8121814T>GCA497955264HES7c.450A>C (p.Pro150=)
c.435A>C (p.Pro145=)
c.426A>C (p.Pro142=)
c.555A>C (p.Pro185=)
c.546A>C (p.Pro182=)
c.537A>C (p.Pro179=)
c.408A>C (p.Pro136=)
n.69+2000T>G
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.8121815G>ACA397988105HES7c.449C>T (p.Pro150Leu)
c.434C>T (p.Pro145Leu)
c.425C>T (p.Pro142Leu)
c.554C>T (p.Pro185Leu)
c.545C>T (p.Pro182Leu)
c.536C>T (p.Pro179Leu)
c.407C>T (p.Pro136Leu)
n.69+2001G>A
 gnomAD v4
17g.8121815G>CCA397988107HES7c.449C>G (p.Pro150Arg)
c.434C>G (p.Pro145Arg)
c.425C>G (p.Pro142Arg)
c.554C>G (p.Pro185Arg)
c.545C>G (p.Pro182Arg)
c.536C>G (p.Pro179Arg)
c.407C>G (p.Pro136Arg)
n.69+2001G>C
17g.8121815G>TCA397988110HES7c.449C>A (p.Pro150Gln)
c.434C>A (p.Pro145Gln)
c.425C>A (p.Pro142Gln)
c.554C>A (p.Pro185Gln)
c.545C>A (p.Pro182Gln)
c.536C>A (p.Pro179Gln)
c.407C>A (p.Pro136Gln)
n.69+2001G>T
 gnomAD v4
17g.8121817delCA2635937591HES7c.449del (p.Pro150HisfsTer?)
c.434del (p.Pro145HisfsTer?)
c.425del (p.Pro142HisfsTer?)
c.554del (p.Pro185HisfsTer?)
c.545del (p.Pro182HisfsTer?)
c.536del (p.Pro179HisfsTer?)
c.407del (p.Pro136HisfsTer?)
n.69+2003del
 gnomAD v4
17g.8121816G>ACA397988112HES7c.448C>T (p.Pro150Ser)
c.433C>T (p.Pro145Ser)
c.424C>T (p.Pro142Ser)
c.553C>T (p.Pro185Ser)
c.544C>T (p.Pro182Ser)
c.535C>T (p.Pro179Ser)
c.406C>T (p.Pro136Ser)
n.69+2002G>A
 COSMIC
17g.8121816G>CCA397988114HES7c.448C>G (p.Pro150Ala)
c.433C>G (p.Pro145Ala)
c.424C>G (p.Pro142Ala)
c.553C>G (p.Pro185Ala)
c.544C>G (p.Pro182Ala)
c.535C>G (p.Pro179Ala)
c.406C>G (p.Pro136Ala)
n.69+2002G>C
 gnomAD v4
17g.8121816G>TCA397988116HES7c.448C>A (p.Pro150Thr)
c.433C>A (p.Pro145Thr)
c.424C>A (p.Pro142Thr)
c.553C>A (p.Pro185Thr)
c.544C>A (p.Pro182Thr)
c.535C>A (p.Pro179Thr)
c.406C>A (p.Pro136Thr)
n.69+2002G>T
 gnomAD v4
17g.8121817G>ACA497955268HES7c.447C>T (p.Arg149=)
c.432C>T (p.Arg144=)
c.423C>T (p.Arg141=)
c.552C>T (p.Arg184=)
c.543C>T (p.Arg181=)
c.534C>T (p.Arg178=)
c.405C>T (p.Arg135=)
n.69+2003G>A
 gnomAD v4
17g.8121817G>CCA497955270HES7c.447C>G (p.Arg149=)
c.432C>G (p.Arg144=)
c.423C>G (p.Arg141=)
c.552C>G (p.Arg184=)
c.543C>G (p.Arg181=)
c.534C>G (p.Arg178=)
c.405C>G (p.Arg135=)
n.69+2003G>C
17g.8121817G>TCA497955271HES7c.447C>A (p.Arg149=)
c.432C>A (p.Arg144=)
c.423C>A (p.Arg141=)
c.552C>A (p.Arg184=)
c.543C>A (p.Arg181=)
c.534C>A (p.Arg178=)
c.405C>A (p.Arg135=)
n.69+2003G>T
 gnomAD v4
17g.8121818C>ACA397988117HES7c.446G>T (p.Arg149Leu)
c.431G>T (p.Arg144Leu)
c.422G>T (p.Arg141Leu)
c.551G>T (p.Arg184Leu)
c.542G>T (p.Arg181Leu)
c.533G>T (p.Arg178Leu)
c.404G>T (p.Arg135Leu)
n.69+2004C>A
17g.8121818C=CA2246160379HES7c.446G= (p.Arg149=)
c.431G= (p.Arg144=)
c.422G= (p.Arg141=)
c.551G= (p.Arg184=)
c.542G= (p.Arg181=)
c.533G= (p.Arg178=)
c.404G= (p.Arg135=)
n.69+2004C=
17g.8121818C>GCA397988119HES7c.446G>C (p.Arg149Pro)
c.431G>C (p.Arg144Pro)
c.422G>C (p.Arg141Pro)
c.551G>C (p.Arg184Pro)
c.542G>C (p.Arg181Pro)
c.533G>C (p.Arg178Pro)
c.404G>C (p.Arg135Pro)
n.69+2004C>G
17g.8121818C>TCA397988121HES7c.446G>A (p.Arg149His)
c.431G>A (p.Arg144His)
c.422G>A (p.Arg141His)
c.551G>A (p.Arg184His)
c.542G>A (p.Arg181His)
c.533G>A (p.Arg178His)
c.404G>A (p.Arg135His)
n.69+2004C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.8121819G>ACA397988124HES7c.445C>T (p.Arg149Cys)
c.430C>T (p.Arg144Cys)
c.421C>T (p.Arg141Cys)
c.550C>T (p.Arg184Cys)
c.541C>T (p.Arg181Cys)
c.532C>T (p.Arg178Cys)
c.403C>T (p.Arg135Cys)
n.69+2005G>A
 gnomAD v4
17g.8121819G>CCA397988126HES7c.445C>G (p.Arg149Gly)
c.430C>G (p.Arg144Gly)
c.421C>G (p.Arg141Gly)
c.550C>G (p.Arg184Gly)
c.541C>G (p.Arg181Gly)
c.532C>G (p.Arg178Gly)
c.403C>G (p.Arg135Gly)
n.69+2005G>C
17g.8121819G>TCA397988123HES7c.445C>A (p.Arg149Ser)
c.430C>A (p.Arg144Ser)
c.421C>A (p.Arg141Ser)
c.550C>A (p.Arg184Ser)
c.541C>A (p.Arg181Ser)
c.532C>A (p.Arg178Ser)
c.403C>A (p.Arg135Ser)
n.69+2005G>T
 gnomAD v4
17g.8121820C>ACA497955277HES7c.444G>T (p.Pro148=)
c.429G>T (p.Pro143=)
c.420G>T (p.Pro140=)
c.549G>T (p.Pro183=)
c.540G>T (p.Pro180=)
c.531G>T (p.Pro177=)
c.402G>T (p.Pro134=)
n.69+2006C>A
 gnomAD v4
17g.8121820C=CA2246160384HES7c.444G= (p.Pro148=)
c.429G= (p.Pro143=)
c.420G= (p.Pro140=)
c.549G= (p.Pro183=)
c.540G= (p.Pro180=)
c.531G= (p.Pro177=)
c.402G= (p.Pro134=)
n.69+2006C=
17g.8121820C>GCA497955279HES7c.444G>C (p.Pro148=)
c.429G>C (p.Pro143=)
c.420G>C (p.Pro140=)
c.549G>C (p.Pro183=)
c.540G>C (p.Pro180=)
c.531G>C (p.Pro177=)
c.402G>C (p.Pro134=)
n.69+2006C>G
17g.8121820C>TCA8368628HES7c.444G>A (p.Pro148=)
c.429G>A (p.Pro143=)
c.420G>A (p.Pro140=)
c.549G>A (p.Pro183=)
c.540G>A (p.Pro180=)
c.531G>A (p.Pro177=)
c.402G>A (p.Pro134=)
n.69+2006C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8121821G>ACA397988129HES7c.443C>T (p.Pro148Leu)
c.428C>T (p.Pro143Leu)
c.419C>T (p.Pro140Leu)
c.548C>T (p.Pro183Leu)
c.539C>T (p.Pro180Leu)
c.530C>T (p.Pro177Leu)
c.401C>T (p.Pro134Leu)
n.69+2007G>A
 dbSNP gnomAD v2 gnomAD v4
17g.8121821G>CCA397988133HES7c.443C>G (p.Pro148Arg)
c.428C>G (p.Pro143Arg)
c.419C>G (p.Pro140Arg)
c.548C>G (p.Pro183Arg)
c.539C>G (p.Pro180Arg)
c.530C>G (p.Pro177Arg)
c.401C>G (p.Pro134Arg)
n.69+2007G>C
 gnomAD v4
17g.8121821G=CA2246160389HES7c.443C= (p.Pro148=)
c.428C= (p.Pro143=)
c.419C= (p.Pro140=)
c.548C= (p.Pro183=)
c.539C= (p.Pro180=)
c.530C= (p.Pro177=)
c.401C= (p.Pro134=)
n.69+2007G=
17g.8121821G>TCA397988131HES7c.443C>A (p.Pro148Gln)
c.428C>A (p.Pro143Gln)
c.419C>A (p.Pro140Gln)
c.548C>A (p.Pro183Gln)
c.539C>A (p.Pro180Gln)
c.530C>A (p.Pro177Gln)
c.401C>A (p.Pro134Gln)
n.69+2007G>T
 gnomAD v4
17g.8121822G>ACA8368629HES7c.442C>T (p.Pro148Ser)
c.427C>T (p.Pro143Ser)
c.418C>T (p.Pro140Ser)
c.547C>T (p.Pro183Ser)
c.538C>T (p.Pro180Ser)
c.529C>T (p.Pro177Ser)
c.400C>T (p.Pro134Ser)
n.69+2008G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8121822G>CCA397988138HES7c.442C>G (p.Pro148Ala)
c.427C>G (p.Pro143Ala)
c.418C>G (p.Pro140Ala)
c.547C>G (p.Pro183Ala)
c.538C>G (p.Pro180Ala)
c.529C>G (p.Pro177Ala)
c.400C>G (p.Pro134Ala)
n.69+2008G>C
17g.8121822G=CA2246160398HES7c.442C= (p.Pro148=)
c.427C= (p.Pro143=)
c.418C= (p.Pro140=)
c.547C= (p.Pro183=)
c.538C= (p.Pro180=)
c.529C= (p.Pro177=)
c.400C= (p.Pro134=)
n.69+2008G=
17g.8121822G>TCA397988135HES7c.442C>A (p.Pro148Thr)
c.427C>A (p.Pro143Thr)
c.418C>A (p.Pro140Thr)
c.547C>A (p.Pro183Thr)
c.538C>A (p.Pro180Thr)
c.529C>A (p.Pro177Thr)
c.400C>A (p.Pro134Thr)
n.69+2008G>T
 gnomAD v4
17g.8121823C>ACA497955283HES7c.441G>T (p.Ala147=)
c.426G>T (p.Ala142=)
c.417G>T (p.Ala139=)
c.546G>T (p.Ala182=)
c.537G>T (p.Ala179=)
c.528G>T (p.Ala176=)
c.399G>T (p.Ala133=)
n.69+2009C>A
 gnomAD v4
17g.8121823C=CA2246160401HES7c.441G= (p.Ala147=)
c.426G= (p.Ala142=)
c.417G= (p.Ala139=)
c.546G= (p.Ala182=)
c.537G= (p.Ala179=)
c.528G= (p.Ala176=)
c.399G= (p.Ala133=)
n.69+2009C=
17g.8121823C>GCA497955288HES7c.441G>C (p.Ala147=)
c.426G>C (p.Ala142=)
c.417G>C (p.Ala139=)
c.546G>C (p.Ala182=)
c.537G>C (p.Ala179=)
c.528G>C (p.Ala176=)
c.399G>C (p.Ala133=)
n.69+2009C>G
17g.8121823C>TCA287537174HES7c.441G>A (p.Ala147=)
c.426G>A (p.Ala142=)
c.417G>A (p.Ala139=)
c.546G>A (p.Ala182=)
c.537G>A (p.Ala179=)
c.528G>A (p.Ala176=)
c.399G>A (p.Ala133=)
n.69+2009C>T
 dbSNP gnomAD v4
17g.8121824G>ACA397988140HES7c.440C>T (p.Ala147Val)
c.425C>T (p.Ala142Val)
c.416C>T (p.Ala139Val)
c.545C>T (p.Ala182Val)
c.536C>T (p.Ala179Val)
c.527C>T (p.Ala176Val)
c.398C>T (p.Ala133Val)
n.69+2010G>A
 gnomAD v4
17g.8121824G>CCA8368630HES7c.440C>G (p.Ala147Gly)
c.425C>G (p.Ala142Gly)
c.416C>G (p.Ala139Gly)
c.545C>G (p.Ala182Gly)
c.536C>G (p.Ala179Gly)
c.527C>G (p.Ala176Gly)
c.398C>G (p.Ala133Gly)
n.69+2010G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8121824G=CA2246160407HES7c.440C= (p.Ala147=)
c.425C= (p.Ala142=)
c.416C= (p.Ala139=)
c.545C= (p.Ala182=)
c.536C= (p.Ala179=)
c.527C= (p.Ala176=)
c.398C= (p.Ala133=)
n.69+2010G=
17g.8121824G>TCA397988144HES7c.440C>A (p.Ala147Glu)
c.425C>A (p.Ala142Glu)
c.416C>A (p.Ala139Glu)
c.545C>A (p.Ala182Glu)
c.536C>A (p.Ala179Glu)
c.527C>A (p.Ala176Glu)
c.398C>A (p.Ala133Glu)
n.69+2010G>T
 gnomAD v4
17g.8121825C>ACA397988145HES7c.439G>T (p.Ala147Ser)
c.424G>T (p.Ala142Ser)
c.415G>T (p.Ala139Ser)
c.544G>T (p.Ala182Ser)
c.535G>T (p.Ala179Ser)
c.526G>T (p.Ala176Ser)
c.397G>T (p.Ala133Ser)
n.69+2011C>A
 gnomAD v4
17g.8121825C>GCA397988146HES7c.439G>C (p.Ala147Pro)
c.424G>C (p.Ala142Pro)
c.415G>C (p.Ala139Pro)
c.544G>C (p.Ala182Pro)
c.535G>C (p.Ala179Pro)
c.526G>C (p.Ala176Pro)
c.397G>C (p.Ala133Pro)
n.69+2011C>G
 dbSNP
17g.8121825C>TCA397988147HES7c.439G>A (p.Ala147Thr)
c.424G>A (p.Ala142Thr)
c.415G>A (p.Ala139Thr)
c.544G>A (p.Ala182Thr)
c.535G>A (p.Ala179Thr)
c.526G>A (p.Ala176Thr)
c.397G>A (p.Ala133Thr)
n.69+2011C>T
17g.8121826T>ACA497955292HES7c.438A>T (p.Pro146=)
c.423A>T (p.Pro141=)
c.414A>T (p.Pro138=)
c.543A>T (p.Pro181=)
c.534A>T (p.Pro178=)
c.525A>T (p.Pro175=)
c.396A>T (p.Pro132=)
n.69+2012T>A
17g.8121826T>CCA497955293HES7c.438A>G (p.Pro146=)
c.423A>G (p.Pro141=)
c.414A>G (p.Pro138=)
c.543A>G (p.Pro181=)
c.534A>G (p.Pro178=)
c.525A>G (p.Pro175=)
c.396A>G (p.Pro132=)
n.69+2012T>C
17g.8121826T>GCA497955295HES7c.438A>C (p.Pro146=)
c.423A>C (p.Pro141=)
c.414A>C (p.Pro138=)
c.543A>C (p.Pro181=)
c.534A>C (p.Pro178=)
c.525A>C (p.Pro175=)
c.396A>C (p.Pro132=)
n.69+2012T>G
17g.8121827G>ACA397988148HES7c.437C>T (p.Pro146Leu)
c.422C>T (p.Pro141Leu)
c.413C>T (p.Pro138Leu)
c.542C>T (p.Pro181Leu)
c.533C>T (p.Pro178Leu)
c.524C>T (p.Pro175Leu)
c.395C>T (p.Pro132Leu)
n.69+2013G>A
 dbSNP gnomAD v4
17g.8121827G>CCA397988149HES7c.437C>G (p.Pro146Arg)
c.422C>G (p.Pro141Arg)
c.413C>G (p.Pro138Arg)
c.542C>G (p.Pro181Arg)
c.533C>G (p.Pro178Arg)
c.524C>G (p.Pro175Arg)
c.395C>G (p.Pro132Arg)
n.69+2013G>C
17g.8121827G=CA2246160411HES7c.437C= (p.Pro146=)
c.422C= (p.Pro141=)
c.413C= (p.Pro138=)
c.542C= (p.Pro181=)
c.533C= (p.Pro178=)
c.524C= (p.Pro175=)
c.395C= (p.Pro132=)
n.69+2013G=
17g.8121827G>TCA287537176HES7c.437C>A (p.Pro146Gln)
c.422C>A (p.Pro141Gln)
c.413C>A (p.Pro138Gln)
c.542C>A (p.Pro181Gln)
c.533C>A (p.Pro178Gln)
c.524C>A (p.Pro175Gln)
c.395C>A (p.Pro132Gln)
n.69+2013G>T
 dbSNP gnomAD v2 gnomAD v4
17g.8121828G>ACA397988150HES7c.436C>T (p.Pro146Ser)
c.421C>T (p.Pro141Ser)
c.412C>T (p.Pro138Ser)
c.541C>T (p.Pro181Ser)
c.532C>T (p.Pro178Ser)
c.523C>T (p.Pro175Ser)
c.394C>T (p.Pro132Ser)
n.69+2014G>A
 gnomAD v4
17g.8121828G>CCA287537181HES7c.436C>G (p.Pro146Ala)
c.421C>G (p.Pro141Ala)
c.412C>G (p.Pro138Ala)
c.541C>G (p.Pro181Ala)
c.532C>G (p.Pro178Ala)
c.523C>G (p.Pro175Ala)
c.394C>G (p.Pro132Ala)
n.69+2014G>C
 dbSNP gnomAD v4
17g.8121828G=CA2246160416HES7c.436C= (p.Pro146=)
c.421C= (p.Pro141=)
c.412C= (p.Pro138=)
c.541C= (p.Pro181=)
c.532C= (p.Pro178=)
c.523C= (p.Pro175=)
c.394C= (p.Pro132=)
n.69+2014G=
17g.8121828G>TCA397988151HES7c.436C>A (p.Pro146Thr)
c.421C>A (p.Pro141Thr)
c.412C>A (p.Pro138Thr)
c.541C>A (p.Pro181Thr)
c.532C>A (p.Pro178Thr)
c.523C>A (p.Pro175Thr)
c.394C>A (p.Pro132Thr)
n.69+2014G>T
 dbSNP gnomAD v2 gnomAD v4
17g.8121829A>CCA497955302HES7c.435T>G (p.Pro145=)
c.420T>G (p.Pro140=)
c.411T>G (p.Pro137=)
c.540T>G (p.Pro180=)
c.531T>G (p.Pro177=)
c.522T>G (p.Pro174=)
c.393T>G (p.Pro131=)
n.69+2015A>C
 gnomAD v4
17g.8121829A>GCA497955304HES7c.435T>C (p.Pro145=)
c.420T>C (p.Pro140=)
c.411T>C (p.Pro137=)
c.540T>C (p.Pro180=)
c.531T>C (p.Pro177=)
c.522T>C (p.Pro174=)
c.393T>C (p.Pro131=)
n.69+2015A>G
 gnomAD v4
17g.8121829A>TCA497955306HES7c.435T>A (p.Pro145=)
c.420T>A (p.Pro140=)
c.411T>A (p.Pro137=)
c.540T>A (p.Pro180=)
c.531T>A (p.Pro177=)
c.522T>A (p.Pro174=)
c.393T>A (p.Pro131=)
n.69+2015A>T
17g.8121830G>ACA397988152HES7c.434C>T (p.Pro145Leu)
c.419C>T (p.Pro140Leu)
c.410C>T (p.Pro137Leu)
c.539C>T (p.Pro180Leu)
c.530C>T (p.Pro177Leu)
c.521C>T (p.Pro174Leu)
c.392C>T (p.Pro131Leu)
n.69+2016G>A
 gnomAD v4
17g.8121830G>CCA397988155HES7c.434C>G (p.Pro145Arg)
c.419C>G (p.Pro140Arg)
c.410C>G (p.Pro137Arg)
c.539C>G (p.Pro180Arg)
c.530C>G (p.Pro177Arg)
c.521C>G (p.Pro174Arg)
c.392C>G (p.Pro131Arg)
n.69+2016G>C
17g.8121830G>TCA397988154HES7c.434C>A (p.Pro145His)
c.419C>A (p.Pro140His)
c.410C>A (p.Pro137His)
c.539C>A (p.Pro180His)
c.530C>A (p.Pro177His)
c.521C>A (p.Pro174His)
c.392C>A (p.Pro131His)
n.69+2016G>T
 gnomAD v4
17g.8121831G>ACA397988156HES7c.433C>T (p.Pro145Ser)
c.418C>T (p.Pro140Ser)
c.409C>T (p.Pro137Ser)
c.538C>T (p.Pro180Ser)
c.529C>T (p.Pro177Ser)
c.520C>T (p.Pro174Ser)
c.391C>T (p.Pro131Ser)
n.69+2017G>A
 gnomAD v4
17g.8121831G>CCA397988158HES7c.433C>G (p.Pro145Ala)
c.418C>G (p.Pro140Ala)
c.409C>G (p.Pro137Ala)
c.538C>G (p.Pro180Ala)
c.529C>G (p.Pro177Ala)
c.520C>G (p.Pro174Ala)
c.391C>G (p.Pro131Ala)
n.69+2017G>C
17g.8121831G>TCA397988159HES7c.433C>A (p.Pro145Thr)
c.418C>A (p.Pro140Thr)
c.409C>A (p.Pro137Thr)
c.538C>A (p.Pro180Thr)
c.529C>A (p.Pro177Thr)
c.520C>A (p.Pro174Thr)
c.391C>A (p.Pro131Thr)
n.69+2017G>T
 gnomAD v4
17g.8121832C>ACA397988160HES7c.432G>T (p.Arg144Ser)
c.417G>T (p.Arg139Ser)
c.408G>T (p.Arg136Ser)
c.537G>T (p.Arg179Ser)
c.528G>T (p.Arg176Ser)
c.519G>T (p.Arg173Ser)
c.390G>T (p.Arg130Ser)
n.69+2018C>A
 dbSNP gnomAD v4
17g.8121832C=CA2246160421HES7c.432G= (p.Arg144=)
c.417G= (p.Arg139=)
c.408G= (p.Arg136=)
c.537G= (p.Arg179=)
c.528G= (p.Arg176=)
c.519G= (p.Arg173=)
c.390G= (p.Arg130=)
n.69+2018C=
17g.8121832C>GCA397988161HES7c.432G>C (p.Arg144Ser)
c.417G>C (p.Arg139Ser)
c.408G>C (p.Arg136Ser)
c.537G>C (p.Arg179Ser)
c.528G>C (p.Arg176Ser)
c.519G>C (p.Arg173Ser)
c.390G>C (p.Arg130Ser)
n.69+2018C>G
17g.8121832C>TCA497955309HES7c.432G>A (p.Arg144=)
c.417G>A (p.Arg139=)
c.408G>A (p.Arg136=)
c.537G>A (p.Arg179=)
c.528G>A (p.Arg176=)
c.519G>A (p.Arg173=)
c.390G>A (p.Arg130=)
n.69+2018C>T
17g.8121833C>ACA397988163HES7c.431G>T (p.Arg144Met)
c.416G>T (p.Arg139Met)
c.407G>T (p.Arg136Met)
c.536G>T (p.Arg179Met)
c.527G>T (p.Arg176Met)
c.518G>T (p.Arg173Met)
c.389G>T (p.Arg130Met)
n.69+2019C>A
 gnomAD v4
17g.8121833C=CA2246160424HES7c.431G= (p.Arg144=)
c.416G= (p.Arg139=)
c.407G= (p.Arg136=)
c.536G= (p.Arg179=)
c.527G= (p.Arg176=)
c.518G= (p.Arg173=)
c.389G= (p.Arg130=)
n.69+2019C=
17g.8121833C>GCA397988166HES7c.431G>C (p.Arg144Thr)
c.416G>C (p.Arg139Thr)
c.407G>C (p.Arg136Thr)
c.536G>C (p.Arg179Thr)
c.527G>C (p.Arg176Thr)
c.518G>C (p.Arg173Thr)
c.389G>C (p.Arg130Thr)
n.69+2019C>G
 dbSNP gnomAD v2
17g.8121833C>TCA397988168HES7c.431G>A (p.Arg144Lys)
c.416G>A (p.Arg139Lys)
c.407G>A (p.Arg136Lys)
c.536G>A (p.Arg179Lys)
c.527G>A (p.Arg176Lys)
c.518G>A (p.Arg173Lys)
c.389G>A (p.Arg130Lys)
n.69+2019C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8121834T>ACA397988170HES7c.430A>T (p.Arg144Trp)
c.415A>T (p.Arg139Trp)
c.406A>T (p.Arg136Trp)
c.535A>T (p.Arg179Trp)
c.526A>T (p.Arg176Trp)
c.517A>T (p.Arg173Trp)
c.388A>T (p.Arg130Trp)
n.69+2020T>A
17g.8121834T>CCA397988172HES7c.430A>G (p.Arg144Gly)
c.415A>G (p.Arg139Gly)
c.406A>G (p.Arg136Gly)
c.535A>G (p.Arg179Gly)
c.526A>G (p.Arg176Gly)
c.517A>G (p.Arg173Gly)
c.388A>G (p.Arg130Gly)
n.69+2020T>C
 gnomAD v4
17g.8121834T>GCA497955312HES7c.430A>C (p.Arg144=)
c.415A>C (p.Arg139=)
c.406A>C (p.Arg136=)
c.535A>C (p.Arg179=)
c.526A>C (p.Arg176=)
c.517A>C (p.Arg173=)
c.388A>C (p.Arg130=)
n.69+2020T>G
17g.8121835C>ACA497955313HES7c.429G>T (p.Pro143=)
c.414G>T (p.Pro138=)
c.405G>T (p.Pro135=)
c.534G>T (p.Pro178=)
c.525G>T (p.Pro175=)
c.516G>T (p.Pro172=)
c.387G>T (p.Pro129=)
n.69+2021C>A
17g.8121835C=CA2246160427HES7c.429G= (p.Pro143=)
c.414G= (p.Pro138=)
c.405G= (p.Pro135=)
c.534G= (p.Pro178=)
c.525G= (p.Pro175=)
c.516G= (p.Pro172=)
c.387G= (p.Pro129=)
n.69+2021C=
17g.8121835C>GCA8368631HES7c.429G>C (p.Pro143=)
c.414G>C (p.Pro138=)
c.405G>C (p.Pro135=)
c.534G>C (p.Pro178=)
c.525G>C (p.Pro175=)
c.516G>C (p.Pro172=)
c.387G>C (p.Pro129=)
n.69+2021C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8121835C>TCA497955314HES7c.429G>A (p.Pro143=)
c.414G>A (p.Pro138=)
c.405G>A (p.Pro135=)
c.534G>A (p.Pro178=)
c.525G>A (p.Pro175=)
c.516G>A (p.Pro172=)
c.387G>A (p.Pro129=)
n.69+2021C>T
17g.8121835_8121836delinsCGCA2246160429HES7c.428_429delinsCG (p.Pro143=)
c.413_414delinsCG (p.Pro138=)
c.404_405delinsCG (p.Pro135=)
c.533_534delinsCG (p.Pro178=)
c.524_525delinsCG (p.Pro175=)
c.515_516delinsCG (p.Pro172=)
c.386_387delinsCG (p.Pro129=)
n.69+2021_69+2022delinsCG
17g.8121836G>ACA397988178HES7c.428C>T (p.Pro143Leu)
c.413C>T (p.Pro138Leu)
c.404C>T (p.Pro135Leu)
c.533C>T (p.Pro178Leu)
c.524C>T (p.Pro175Leu)
c.515C>T (p.Pro172Leu)
c.386C>T (p.Pro129Leu)
n.69+2022G>A
 dbSNP gnomAD v2 gnomAD v4
17g.8121836G>CCA8368632HES7c.428C>G (p.Pro143Arg)
c.413C>G (p.Pro138Arg)
c.404C>G (p.Pro135Arg)
c.533C>G (p.Pro178Arg)
c.524C>G (p.Pro175Arg)
c.515C>G (p.Pro172Arg)
c.386C>G (p.Pro129Arg)
n.69+2022G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8121836G=CA2246160432HES7c.428C= (p.Pro143=)
c.413C= (p.Pro138=)
c.404C= (p.Pro135=)
c.533C= (p.Pro178=)
c.524C= (p.Pro175=)
c.515C= (p.Pro172=)
c.386C= (p.Pro129=)
n.69+2022G=
17g.8121836G>TCA397988176HES7c.428C>A (p.Pro143Gln)
c.413C>A (p.Pro138Gln)
c.404C>A (p.Pro135Gln)
c.533C>A (p.Pro178Gln)
c.524C>A (p.Pro175Gln)
c.515C>A (p.Pro172Gln)
c.386C>A (p.Pro129Gln)
n.69+2022G>T
17g.8121837delCA2246160433HES7c.428del (p.Pro143ArgfsTer?)
c.413del (p.Pro138ArgfsTer?)
c.404del (p.Pro135ArgfsTer?)
c.533del (p.Pro178ArgfsTer?)
c.524del (p.Pro175ArgfsTer?)
c.515del (p.Pro172ArgfsTer?)
c.386del (p.Pro129ArgfsTer?)
n.69+2023del
 dbSNP
17g.8121837G>ACA397988179HES7c.427C>T (p.Pro143Ser)
c.412C>T (p.Pro138Ser)
c.403C>T (p.Pro135Ser)
c.532C>T (p.Pro178Ser)
c.523C>T (p.Pro175Ser)
c.514C>T (p.Pro172Ser)
c.385C>T (p.Pro129Ser)
n.69+2023G>A
 gnomAD v4
17g.8121837G>CCA397988181HES7c.427C>G (p.Pro143Ala)
c.412C>G (p.Pro138Ala)
c.403C>G (p.Pro135Ala)
c.532C>G (p.Pro178Ala)
c.523C>G (p.Pro175Ala)
c.514C>G (p.Pro172Ala)
c.385C>G (p.Pro129Ala)
n.69+2023G>C
 dbSNP gnomAD v3 gnomAD v4
17g.8121837G=CA2246160439HES7c.427C= (p.Pro143=)
c.412C= (p.Pro138=)
c.403C= (p.Pro135=)
c.532C= (p.Pro178=)
c.523C= (p.Pro175=)
c.514C= (p.Pro172=)
c.385C= (p.Pro129=)
n.69+2023G=
17g.8121837G>TCA8368633HES7c.427C>A (p.Pro143Thr)
c.412C>A (p.Pro138Thr)
c.403C>A (p.Pro135Thr)
c.532C>A (p.Pro178Thr)
c.523C>A (p.Pro175Thr)
c.514C>A (p.Pro172Thr)
c.385C>A (p.Pro129Thr)
n.69+2023G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8121838delCA2576161674HES7c.426del (p.Pro143ArgfsTer?)
c.411del (p.Pro138ArgfsTer?)
c.402del (p.Pro135ArgfsTer?)
c.531del (p.Pro178ArgfsTer?)
c.522del (p.Pro175ArgfsTer?)
c.513del (p.Pro172ArgfsTer?)
c.384del (p.Pro129ArgfsTer?)
n.69+2024del
17g.8121838A>CCA397988185HES7c.426T>G (p.Asp142Glu)
c.411T>G (p.Asp137Glu)
c.402T>G (p.Asp134Glu)
c.531T>G (p.Asp177Glu)
c.522T>G (p.Asp174Glu)
c.513T>G (p.Asp171Glu)
c.384T>G (p.Asp128Glu)
n.69+2024A>C
17g.8121838A>GCA497955323HES7c.426T>C (p.Asp142=)
c.411T>C (p.Asp137=)
c.402T>C (p.Asp134=)
c.531T>C (p.Asp177=)
c.522T>C (p.Asp174=)
c.513T>C (p.Asp171=)
c.384T>C (p.Asp128=)
n.69+2024A>G
 gnomAD v4
17g.8121838A>TCA397988186HES7c.426T>A (p.Asp142Glu)
c.411T>A (p.Asp137Glu)
c.402T>A (p.Asp134Glu)
c.531T>A (p.Asp177Glu)
c.522T>A (p.Asp174Glu)
c.513T>A (p.Asp171Glu)
c.384T>A (p.Asp128Glu)
n.69+2024A>T
17g.8121839T>ACA397988190HES7c.425A>T (p.Asp142Val)
c.410A>T (p.Asp137Val)
c.401A>T (p.Asp134Val)
c.530A>T (p.Asp177Val)
c.521A>T (p.Asp174Val)
c.512A>T (p.Asp171Val)
c.383A>T (p.Asp128Val)
n.69+2025T>A
 gnomAD v4
17g.8121839T>CCA397988194HES7c.425A>G (p.Asp142Gly)
c.410A>G (p.Asp137Gly)
c.401A>G (p.Asp134Gly)
c.530A>G (p.Asp177Gly)
c.521A>G (p.Asp174Gly)
c.512A>G (p.Asp171Gly)
c.383A>G (p.Asp128Gly)
n.69+2025T>C
 dbSNP
17g.8121839T>GCA397988196HES7c.425A>C (p.Asp142Ala)
c.410A>C (p.Asp137Ala)
c.401A>C (p.Asp134Ala)
c.530A>C (p.Asp177Ala)
c.521A>C (p.Asp174Ala)
c.512A>C (p.Asp171Ala)
c.383A>C (p.Asp128Ala)
n.69+2025T>G
17g.8121839T=CA2246160443HES7c.425A= (p.Asp142=)
c.410A= (p.Asp137=)
c.401A= (p.Asp134=)
c.530A= (p.Asp177=)
c.521A= (p.Asp174=)
c.512A= (p.Asp171=)
c.383A= (p.Asp128=)
n.69+2025T=
17g.8121840C>ACA8368634HES7c.424G>T (p.Asp142Tyr)
c.409G>T (p.Asp137Tyr)
c.400G>T (p.Asp134Tyr)
c.529G>T (p.Asp177Tyr)
c.520G>T (p.Asp174Tyr)
c.511G>T (p.Asp171Tyr)
c.382G>T (p.Asp128Tyr)
n.69+2026C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8121840C=CA2246160447HES7c.424G= (p.Asp142=)
c.409G= (p.Asp137=)
c.400G= (p.Asp134=)
c.529G= (p.Asp177=)
c.520G= (p.Asp174=)
c.511G= (p.Asp171=)
c.382G= (p.Asp128=)
n.69+2026C=
17g.8121840C>GCA397988199HES7c.424G>C (p.Asp142His)
c.409G>C (p.Asp137His)
c.400G>C (p.Asp134His)
c.529G>C (p.Asp177His)
c.520G>C (p.Asp174His)
c.511G>C (p.Asp171His)
c.382G>C (p.Asp128His)
n.69+2026C>G
17g.8121840C>TCA397988201HES7c.424G>A (p.Asp142Asn)
c.409G>A (p.Asp137Asn)
c.400G>A (p.Asp134Asn)
c.529G>A (p.Asp177Asn)
c.520G>A (p.Asp174Asn)
c.511G>A (p.Asp171Asn)
c.382G>A (p.Asp128Asn)
n.69+2026C>T
 gnomAD v4
17g.8121841T>ACA497955329HES7c.423A>T (p.Val141=)
c.408A>T (p.Val136=)
c.399A>T (p.Val133=)
c.528A>T (p.Val176=)
c.519A>T (p.Val173=)
c.510A>T (p.Val170=)
c.381A>T (p.Val127=)
n.69+2027T>A
17g.8121841T>CCA497955330HES7c.423A>G (p.Val141=)
c.408A>G (p.Val136=)
c.399A>G (p.Val133=)
c.528A>G (p.Val176=)
c.519A>G (p.Val173=)
c.510A>G (p.Val170=)
c.381A>G (p.Val127=)
n.69+2027T>C
 gnomAD v4
17g.8121841T>GCA497955331HES7c.423A>C (p.Val141=)
c.408A>C (p.Val136=)
c.399A>C (p.Val133=)
c.528A>C (p.Val176=)
c.519A>C (p.Val173=)
c.510A>C (p.Val170=)
c.381A>C (p.Val127=)
n.69+2027T>G
17g.8121842A=CA2246160448HES7c.422T= (p.Val141=)
c.407T= (p.Val136=)
c.398T= (p.Val133=)
c.527T= (p.Val176=)
c.518T= (p.Val173=)
c.509T= (p.Val170=)
c.380T= (p.Val127=)
n.69+2028A=
17g.8121842A>CCA397988202HES7c.422T>G (p.Val141Gly)
c.407T>G (p.Val136Gly)
c.398T>G (p.Val133Gly)
c.527T>G (p.Val176Gly)
c.518T>G (p.Val173Gly)
c.509T>G (p.Val170Gly)
c.380T>G (p.Val127Gly)
n.69+2028A>C
17g.8121842A>GCA397988205HES7c.422T>C (p.Val141Ala)
c.407T>C (p.Val136Ala)
c.398T>C (p.Val133Ala)
c.527T>C (p.Val176Ala)
c.518T>C (p.Val173Ala)
c.509T>C (p.Val170Ala)
c.380T>C (p.Val127Ala)
n.69+2028A>G
 gnomAD v4
17g.8121842A>TCA8368636HES7c.422T>A (p.Val141Glu)
c.407T>A (p.Val136Glu)
c.398T>A (p.Val133Glu)
c.527T>A (p.Val176Glu)
c.518T>A (p.Val173Glu)
c.509T>A (p.Val170Glu)
c.380T>A (p.Val127Glu)
n.69+2028A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8121842_8121843delinsACCA2246160449HES7c.421_422delinsGT (p.Val141=)
c.406_407delinsGT (p.Val136=)
c.397_398delinsGT (p.Val133=)
c.526_527delinsGT (p.Val176=)
c.517_518delinsGT (p.Val173=)
c.508_509delinsGT (p.Val170=)
c.379_380delinsGT (p.Val127=)
n.69+2028_69+2029delinsAC
17g.8121843C>ACA397988207HES7c.421G>T (p.Val141Leu)
c.406G>T (p.Val136Leu)
c.397G>T (p.Val133Leu)
c.526G>T (p.Val176Leu)
c.517G>T (p.Val173Leu)
c.508G>T (p.Val170Leu)
c.379G>T (p.Val127Leu)
n.69+2029C>A
 dbSNP gnomAD v2 gnomAD v4
17g.8121843C=CA2246160454HES7c.421G= (p.Val141=)
c.406G= (p.Val136=)
c.397G= (p.Val133=)
c.526G= (p.Val176=)
c.517G= (p.Val173=)
c.508G= (p.Val170=)
c.379G= (p.Val127=)
n.69+2029C=
17g.8121843C>GCA397988208HES7c.421G>C (p.Val141Leu)
c.406G>C (p.Val136Leu)
c.397G>C (p.Val133Leu)
c.526G>C (p.Val176Leu)
c.517G>C (p.Val173Leu)
c.508G>C (p.Val170Leu)
c.379G>C (p.Val127Leu)
n.69+2029C>G
17g.8121843C>TCA397988210HES7c.421G>A (p.Val141Ile)
c.406G>A (p.Val136Ile)
c.397G>A (p.Val133Ile)
c.526G>A (p.Val176Ile)
c.517G>A (p.Val173Ile)
c.508G>A (p.Val170Ile)
c.379G>A (p.Val127Ile)
n.69+2029C>T
 gnomAD v4
17g.8121844delCA8368635HES7c.421del (p.Val141Ter)
c.406del (p.Val136Ter)
c.397del (p.Val133Ter)
c.526del (p.Val176Ter)
c.517del (p.Val173Ter)
c.508del (p.Val170Ter)
c.379del (p.Val127Ter)
n.69+2030del
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8121844C>ACA497955340HES7c.420G>T (p.Pro140=)
c.405G>T (p.Pro135=)
c.396G>T (p.Pro132=)
c.525G>T (p.Pro175=)
c.516G>T (p.Pro172=)
c.507G>T (p.Pro169=)
c.378G>T (p.Pro126=)
n.69+2030C>A
 gnomAD v4
17g.8121844C=CA2246160463HES7c.420G= (p.Pro140=)
c.405G= (p.Pro135=)
c.396G= (p.Pro132=)
c.525G= (p.Pro175=)
c.516G= (p.Pro172=)
c.507G= (p.Pro169=)
c.378G= (p.Pro126=)
n.69+2030C=
17g.8121844C>GCA497955343HES7c.420G>C (p.Pro140=)
c.405G>C (p.Pro135=)
c.396G>C (p.Pro132=)
c.525G>C (p.Pro175=)
c.516G>C (p.Pro172=)
c.507G>C (p.Pro169=)
c.378G>C (p.Pro126=)
n.69+2030C>G
 dbSNP gnomAD v3 gnomAD v4
17g.8121844C>TCA8368637HES7c.420G>A (p.Pro140=)
c.405G>A (p.Pro135=)
c.396G>A (p.Pro132=)
c.525G>A (p.Pro175=)
c.516G>A (p.Pro172=)
c.507G>A (p.Pro169=)
c.378G>A (p.Pro126=)
n.69+2030C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8121845G>ACA8368638HES7c.419C>T (p.Pro140Leu)
c.404C>T (p.Pro135Leu)
c.395C>T (p.Pro132Leu)
c.524C>T (p.Pro175Leu)
c.515C>T (p.Pro172Leu)
c.506C>T (p.Pro169Leu)
c.377C>T (p.Pro126Leu)
n.69+2031G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8121845G>CCA397988215HES7c.419C>G (p.Pro140Arg)
c.404C>G (p.Pro135Arg)
c.395C>G (p.Pro132Arg)
c.524C>G (p.Pro175Arg)
c.515C>G (p.Pro172Arg)
c.506C>G (p.Pro169Arg)
c.377C>G (p.Pro126Arg)
n.69+2031G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8121845G=CA2246160471HES7c.419C= (p.Pro140=)
c.404C= (p.Pro135=)
c.395C= (p.Pro132=)
c.524C= (p.Pro175=)
c.515C= (p.Pro172=)
c.506C= (p.Pro169=)
c.377C= (p.Pro126=)
n.69+2031G=
17g.8121845G>TCA397988216HES7c.419C>A (p.Pro140Gln)
c.404C>A (p.Pro135Gln)
c.395C>A (p.Pro132Gln)
c.524C>A (p.Pro175Gln)
c.515C>A (p.Pro172Gln)
c.506C>A (p.Pro169Gln)
c.377C>A (p.Pro126Gln)
n.69+2031G>T
 gnomAD v4
17g.8121846G>ACA8368639HES7c.418C>T (p.Pro140Ser)
c.403C>T (p.Pro135Ser)
c.394C>T (p.Pro132Ser)
c.523C>T (p.Pro175Ser)
c.514C>T (p.Pro172Ser)
c.505C>T (p.Pro169Ser)
c.376C>T (p.Pro126Ser)
n.69+2032G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8121846G>CCA397988218HES7c.418C>G (p.Pro140Ala)
c.403C>G (p.Pro135Ala)
c.394C>G (p.Pro132Ala)
c.523C>G (p.Pro175Ala)
c.514C>G (p.Pro172Ala)
c.505C>G (p.Pro169Ala)
c.376C>G (p.Pro126Ala)
n.69+2032G>C
 dbSNP gnomAD v3 gnomAD v4
17g.8121846G=CA2246160476HES7c.418C= (p.Pro140=)
c.403C= (p.Pro135=)
c.394C= (p.Pro132=)
c.523C= (p.Pro175=)
c.514C= (p.Pro172=)
c.505C= (p.Pro169=)
c.376C= (p.Pro126=)
n.69+2032G=
17g.8121846G>TCA397988220HES7c.418C>A (p.Pro140Thr)
c.403C>A (p.Pro135Thr)
c.394C>A (p.Pro132Thr)
c.523C>A (p.Pro175Thr)
c.514C>A (p.Pro172Thr)
c.505C>A (p.Pro169Thr)
c.376C>A (p.Pro126Thr)
n.69+2032G>T
17g.8121847C>ACA8368640HES7c.417G>T (p.Lys139Asn)
c.402G>T (p.Lys134Asn)
c.393G>T (p.Lys131Asn)
c.522G>T (p.Lys174Asn)
c.513G>T (p.Lys171Asn)
c.504G>T (p.Lys168Asn)
c.375G>T (p.Lys125Asn)
n.69+2033C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8121847C=CA2246160481HES7c.417G= (p.Lys139=)
c.402G= (p.Lys134=)
c.393G= (p.Lys131=)
c.522G= (p.Lys174=)
c.513G= (p.Lys171=)
c.504G= (p.Lys168=)
c.375G= (p.Lys125=)
n.69+2033C=
17g.8121847C>GCA397988221HES7c.417G>C (p.Lys139Asn)
c.402G>C (p.Lys134Asn)
c.393G>C (p.Lys131Asn)
c.522G>C (p.Lys174Asn)
c.513G>C (p.Lys171Asn)
c.504G>C (p.Lys168Asn)
c.375G>C (p.Lys125Asn)
n.69+2033C>G
17g.8121847C>TCA497955353HES7c.417G>A (p.Lys139=)
c.402G>A (p.Lys134=)
c.393G>A (p.Lys131=)
c.522G>A (p.Lys174=)
c.513G>A (p.Lys171=)
c.504G>A (p.Lys168=)
c.375G>A (p.Lys125=)
n.69+2033C>T
17g.8121847_8121862delinsCTTGGGCCGGGGCGGTCA2246160480HES7c.402_417delinsACCGCCCCGGCCCAAG (p.Lys134=)
c.387_402delinsACCGCCCCGGCCCAAG (p.Lys129=)
c.378_393delinsACCGCCCCGGCCCAAG (p.Lys126=)
c.507_522delinsACCGCCCCGGCCCAAG (p.Lys169=)
c.498_513delinsACCGCCCCGGCCCAAG (p.Lys166=)
c.489_504delinsACCGCCCCGGCCCAAG (p.Lys163=)
c.360_375delinsACCGCCCCGGCCCAAG (p.Lys120=)
n.69+2033_69+2048delinsCTTGGGCCGGGGCGGT
17g.8121848T>ACA397988224HES7c.416A>T (p.Lys139Met)
c.401A>T (p.Lys134Met)
c.392A>T (p.Lys131Met)
c.521A>T (p.Lys174Met)
c.512A>T (p.Lys171Met)
c.503A>T (p.Lys168Met)
c.374A>T (p.Lys125Met)
n.69+2034T>A
17g.8121848T>CCA397988226HES7c.416A>G (p.Lys139Arg)
c.401A>G (p.Lys134Arg)
c.392A>G (p.Lys131Arg)
c.521A>G (p.Lys174Arg)
c.512A>G (p.Lys171Arg)
c.503A>G (p.Lys168Arg)
c.374A>G (p.Lys125Arg)
n.69+2034T>C
17g.8121848T>GCA397988228HES7c.416A>C (p.Lys139Thr)
c.401A>C (p.Lys134Thr)
c.392A>C (p.Lys131Thr)
c.521A>C (p.Lys174Thr)
c.512A>C (p.Lys171Thr)
c.503A>C (p.Lys168Thr)
c.374A>C (p.Lys125Thr)
n.69+2034T>G
17g.8121853_8121867delCA891863123HES7c.402_416del (p.Pro135_Lys139del)
c.387_401del (p.Pro130_Lys134del)
c.378_392del (p.Pro127_Lys131del)
c.507_521del (p.Pro170_Lys174del)
c.498_512del (p.Pro167_Lys171del)
c.489_503del (p.Pro164_Lys168del)
c.360_374del (p.Pro121_Lys125del)
n.69+2039_69+2053del
 ClinVar dbSNP
17g.8121849T>ACA397988230HES7c.415A>T (p.Lys139Ter)
c.400A>T (p.Lys134Ter)
c.391A>T (p.Lys131Ter)
c.520A>T (p.Lys174Ter)
c.511A>T (p.Lys171Ter)
c.502A>T (p.Lys168Ter)
c.373A>T (p.Lys125Ter)
n.69+2035T>A
17g.8121849T>CCA397988232HES7c.415A>G (p.Lys139Glu)
c.400A>G (p.Lys134Glu)
c.391A>G (p.Lys131Glu)
c.520A>G (p.Lys174Glu)
c.511A>G (p.Lys171Glu)
c.502A>G (p.Lys168Glu)
c.373A>G (p.Lys125Glu)
n.69+2035T>C
 dbSNP gnomAD v4
17g.8121849T>GCA397988234HES7c.415A>C (p.Lys139Gln)
c.400A>C (p.Lys134Gln)
c.391A>C (p.Lys131Gln)
c.520A>C (p.Lys174Gln)
c.511A>C (p.Lys171Gln)
c.502A>C (p.Lys168Gln)
c.373A>C (p.Lys125Gln)
n.69+2035T>G
17g.8121849T=CA2246160489HES7c.415A= (p.Lys139=)
c.400A= (p.Lys134=)
c.391A= (p.Lys131=)
c.520A= (p.Lys174=)
c.511A= (p.Lys171=)
c.502A= (p.Lys168=)
c.373A= (p.Lys125=)
n.69+2035T=
17g.8121850G>ACA497955361HES7c.414C>T (p.Pro138=)
c.399C>T (p.Pro133=)
c.390C>T (p.Pro130=)
c.519C>T (p.Pro173=)
c.510C>T (p.Pro170=)
c.501C>T (p.Pro167=)
c.372C>T (p.Pro124=)
n.69+2036G>A
17g.8121850G>CCA287537215HES7c.414C>G (p.Pro138=)
c.399C>G (p.Pro133=)
c.390C>G (p.Pro130=)
c.519C>G (p.Pro173=)
c.510C>G (p.Pro170=)
c.501C>G (p.Pro167=)
c.372C>G (p.Pro124=)
n.69+2036G>C
 dbSNP gnomAD v2 gnomAD v4
17g.8121850G=CA2246160493HES7c.414C= (p.Pro138=)
c.399C= (p.Pro133=)
c.390C= (p.Pro130=)
c.519C= (p.Pro173=)
c.510C= (p.Pro170=)
c.501C= (p.Pro167=)
c.372C= (p.Pro124=)
n.69+2036G=
17g.8121850G>TCA287537216HES7c.414C>A (p.Pro138=)
c.399C>A (p.Pro133=)
c.390C>A (p.Pro130=)
c.519C>A (p.Pro173=)
c.510C>A (p.Pro170=)
c.501C>A (p.Pro167=)
c.372C>A (p.Pro124=)
n.69+2036G>T
 dbSNP gnomAD v4
17g.8121851G>ACA397988238HES7c.413C>T (p.Pro138Leu)
c.398C>T (p.Pro133Leu)
c.389C>T (p.Pro130Leu)
c.518C>T (p.Pro173Leu)
c.509C>T (p.Pro170Leu)
c.500C>T (p.Pro167Leu)
c.371C>T (p.Pro124Leu)
n.69+2037G>A
17g.8121851G>CCA397988239HES7c.413C>G (p.Pro138Arg)
c.398C>G (p.Pro133Arg)
c.389C>G (p.Pro130Arg)
c.518C>G (p.Pro173Arg)
c.509C>G (p.Pro170Arg)
c.500C>G (p.Pro167Arg)
c.371C>G (p.Pro124Arg)
n.69+2037G>C
 gnomAD v4
17g.8121851G>TCA397988241HES7c.413C>A (p.Pro138His)
c.398C>A (p.Pro133His)
c.389C>A (p.Pro130His)
c.518C>A (p.Pro173His)
c.509C>A (p.Pro170His)
c.500C>A (p.Pro167His)
c.371C>A (p.Pro124His)
n.69+2037G>T
 gnomAD v4
17g.8121852G>ACA397988243HES7c.412C>T (p.Pro138Ser)
c.397C>T (p.Pro133Ser)
c.388C>T (p.Pro130Ser)
c.517C>T (p.Pro173Ser)
c.508C>T (p.Pro170Ser)
c.499C>T (p.Pro167Ser)
c.370C>T (p.Pro124Ser)
n.69+2038G>A
 gnomAD v4
17g.8121852G>CCA397988244HES7c.412C>G (p.Pro138Ala)
c.397C>G (p.Pro133Ala)
c.388C>G (p.Pro130Ala)
c.517C>G (p.Pro173Ala)
c.508C>G (p.Pro170Ala)
c.499C>G (p.Pro167Ala)
c.370C>G (p.Pro124Ala)
n.69+2038G>C
17g.8121852G>TCA397988246HES7c.412C>A (p.Pro138Thr)
c.397C>A (p.Pro133Thr)
c.388C>A (p.Pro130Thr)
c.517C>A (p.Pro173Thr)
c.508C>A (p.Pro170Thr)
c.499C>A (p.Pro167Thr)
c.370C>A (p.Pro124Thr)
n.69+2038G>T
 gnomAD v4
17g.8121853C>ACA497955370HES7c.411G>T (p.Arg137=)
c.396G>T (p.Arg132=)
c.387G>T (p.Arg129=)
c.516G>T (p.Arg172=)
c.507G>T (p.Arg169=)
c.498G>T (p.Arg166=)
c.369G>T (p.Arg123=)
n.69+2039C>A
17g.8121853C=CA2246160499HES7c.411G= (p.Arg137=)
c.396G= (p.Arg132=)
c.387G= (p.Arg129=)
c.516G= (p.Arg172=)
c.507G= (p.Arg169=)
c.498G= (p.Arg166=)
c.369G= (p.Arg123=)
n.69+2039C=
17g.8121853C>GCA497955373HES7c.411G>C (p.Arg137=)
c.396G>C (p.Arg132=)
c.387G>C (p.Arg129=)
c.516G>C (p.Arg172=)
c.507G>C (p.Arg169=)
c.498G>C (p.Arg166=)
c.369G>C (p.Arg123=)
n.69+2039C>G
17g.8121853C>TCA497955375HES7c.411G>A (p.Arg137=)
c.396G>A (p.Arg132=)
c.387G>A (p.Arg129=)
c.516G>A (p.Arg172=)
c.507G>A (p.Arg169=)
c.498G>A (p.Arg166=)
c.369G>A (p.Arg123=)
n.69+2039C>T
 dbSNP gnomAD v2 gnomAD v4
17g.8121854C>ACA397988251HES7c.410G>T (p.Arg137Leu)
c.395G>T (p.Arg132Leu)
c.386G>T (p.Arg129Leu)
c.515G>T (p.Arg172Leu)
c.506G>T (p.Arg169Leu)
c.497G>T (p.Arg166Leu)
c.368G>T (p.Arg123Leu)
n.69+2040C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8121854C=CA2246160506HES7c.410G= (p.Arg137=)
c.395G= (p.Arg132=)
c.386G= (p.Arg129=)
c.515G= (p.Arg172=)
c.506G= (p.Arg169=)
c.497G= (p.Arg166=)
c.368G= (p.Arg123=)
n.69+2040C=
17g.8121854C>GCA397988248HES7c.410G>C (p.Arg137Pro)
c.395G>C (p.Arg132Pro)
c.386G>C (p.Arg129Pro)
c.515G>C (p.Arg172Pro)
c.506G>C (p.Arg169Pro)
c.497G>C (p.Arg166Pro)
c.368G>C (p.Arg123Pro)
n.69+2040C>G
17g.8121854C>TCA397988250HES7c.410G>A (p.Arg137Gln)
c.395G>A (p.Arg132Gln)
c.386G>A (p.Arg129Gln)
c.515G>A (p.Arg172Gln)
c.506G>A (p.Arg169Gln)
c.497G>A (p.Arg166Gln)
c.368G>A (p.Arg123Gln)
n.69+2040C>T
 gnomAD v4
17g.8121855G>ACA397988256HES7c.409C>T (p.Arg137Trp)
c.394C>T (p.Arg132Trp)
c.385C>T (p.Arg129Trp)
c.514C>T (p.Arg172Trp)
c.505C>T (p.Arg169Trp)
c.496C>T (p.Arg166Trp)
c.367C>T (p.Arg123Trp)
n.69+2041G>A
 dbSNP gnomAD v4
17g.8121855G>CCA8368641HES7c.409C>G (p.Arg137Gly)
c.394C>G (p.Arg132Gly)
c.385C>G (p.Arg129Gly)
c.514C>G (p.Arg172Gly)
c.505C>G (p.Arg169Gly)
c.496C>G (p.Arg166Gly)
c.367C>G (p.Arg123Gly)
n.69+2041G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8121855G=CA2246160518HES7c.409C= (p.Arg137=)
c.394C= (p.Arg132=)
c.385C= (p.Arg129=)
c.514C= (p.Arg172=)
c.505C= (p.Arg169=)
c.496C= (p.Arg166=)
c.367C= (p.Arg123=)
n.69+2041G=
17g.8121855G>TCA287537218HES7c.409C>A (p.Arg137=)
c.394C>A (p.Arg132=)
c.385C>A (p.Arg129=)
c.514C>A (p.Arg172=)
c.505C>A (p.Arg169=)
c.496C>A (p.Arg166=)
c.367C>A (p.Arg123=)
n.69+2041G>T
 dbSNP gnomAD v2 gnomAD v4
17g.8121858delCA2635937844HES7c.409del (p.Arg137GlyfsTer5)
c.394del (p.Arg132GlyfsTer5)
c.385del (p.Arg129GlyfsTer5)
c.514del (p.Arg172GlyfsTer5)
c.505del (p.Arg169GlyfsTer5)
c.496del (p.Arg166GlyfsTer5)
c.367del (p.Arg123GlyfsTer5)
n.69+2044del
 gnomAD v4
17g.8121861_8121870dupCA145465HES7c.400_409dup (p.Arg137GlnfsTer?)
c.385_394dup (p.Arg132GlnfsTer?)
c.376_385dup (p.Arg129GlnfsTer?)
c.505_514dup (p.Arg172GlnfsTer?)
c.496_505dup (p.Arg169GlnfsTer?)
c.487_496dup (p.Arg166GlnfsTer?)
c.358_367dup (p.Arg123GlnfsTer?)
n.69+2047_69+2056dup
 ClinVar dbSNP
17g.8121856G>ACA497955390HES7c.408C>T (p.Pro136=)
c.393C>T (p.Pro131=)
c.384C>T (p.Pro128=)
c.513C>T (p.Pro171=)
c.504C>T (p.Pro168=)
c.495C>T (p.Pro165=)
c.366C>T (p.Pro122=)
n.69+2042G>A
17g.8121856G>CCA497955389HES7c.408C>G (p.Pro136=)
c.393C>G (p.Pro131=)
c.384C>G (p.Pro128=)
c.513C>G (p.Pro171=)
c.504C>G (p.Pro168=)
c.495C>G (p.Pro165=)
c.366C>G (p.Pro122=)
n.69+2042G>C
 dbSNP gnomAD v4
17g.8121856G=CA2246160526HES7c.408C= (p.Pro136=)
c.393C= (p.Pro131=)
c.384C= (p.Pro128=)
c.513C= (p.Pro171=)
c.504C= (p.Pro168=)
c.495C= (p.Pro165=)
c.366C= (p.Pro122=)
n.69+2042G=
17g.8121856G>TCA497955388HES7c.408C>A (p.Pro136=)
c.393C>A (p.Pro131=)
c.384C>A (p.Pro128=)
c.513C>A (p.Pro171=)
c.504C>A (p.Pro168=)
c.495C>A (p.Pro165=)
c.366C>A (p.Pro122=)
n.69+2042G>T
 gnomAD v4
17g.8121857G>ACA397988259HES7c.407C>T (p.Pro136Leu)
c.392C>T (p.Pro131Leu)
c.383C>T (p.Pro128Leu)
c.512C>T (p.Pro171Leu)
c.503C>T (p.Pro168Leu)
c.494C>T (p.Pro165Leu)
c.365C>T (p.Pro122Leu)
n.69+2043G>A
17g.8121857G>CCA397988261HES7c.407C>G (p.Pro136Arg)
c.392C>G (p.Pro131Arg)
c.383C>G (p.Pro128Arg)
c.512C>G (p.Pro171Arg)
c.503C>G (p.Pro168Arg)
c.494C>G (p.Pro165Arg)
c.365C>G (p.Pro122Arg)
n.69+2043G>C
17g.8121857G>TCA397988263HES7c.407C>A (p.Pro136His)
c.392C>A (p.Pro131His)
c.383C>A (p.Pro128His)
c.512C>A (p.Pro171His)
c.503C>A (p.Pro168His)
c.494C>A (p.Pro165His)
c.365C>A (p.Pro122His)
n.69+2043G>T
17g.8121858G>ACA397988265HES7c.406C>T (p.Pro136Ser)
c.391C>T (p.Pro131Ser)
c.382C>T (p.Pro128Ser)
c.511C>T (p.Pro171Ser)
c.502C>T (p.Pro168Ser)
c.493C>T (p.Pro165Ser)
c.364C>T (p.Pro122Ser)
n.69+2044G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.8121858G>CCA397988267HES7c.406C>G (p.Pro136Ala)
c.391C>G (p.Pro131Ala)
c.382C>G (p.Pro128Ala)
c.511C>G (p.Pro171Ala)
c.502C>G (p.Pro168Ala)
c.493C>G (p.Pro165Ala)
c.364C>G (p.Pro122Ala)
n.69+2044G>C
17g.8121858G=CA2246160531HES7c.406C= (p.Pro136=)
c.391C= (p.Pro131=)
c.382C= (p.Pro128=)
c.511C= (p.Pro171=)
c.502C= (p.Pro168=)
c.493C= (p.Pro165=)
c.364C= (p.Pro122=)
n.69+2044G=
17g.8121858G>TCA8368642HES7c.406C>A (p.Pro136Thr)
c.391C>A (p.Pro131Thr)
c.382C>A (p.Pro128Thr)
c.511C>A (p.Pro171Thr)
c.502C>A (p.Pro168Thr)
c.493C>A (p.Pro165Thr)
c.364C>A (p.Pro122Thr)
n.69+2044G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8121859C>ACA287537220HES7c.405G>T (p.Pro135=)
c.390G>T (p.Pro130=)
c.381G>T (p.Pro127=)
c.510G>T (p.Pro170=)
c.501G>T (p.Pro167=)
c.492G>T (p.Pro164=)
c.363G>T (p.Pro121=)
n.69+2045C>A
 dbSNP
17g.8121859C=CA2246160535HES7c.405G= (p.Pro135=)
c.390G= (p.Pro130=)
c.381G= (p.Pro127=)
c.510G= (p.Pro170=)
c.501G= (p.Pro167=)
c.492G= (p.Pro164=)
c.363G= (p.Pro121=)
n.69+2045C=
17g.8121859C>GCA497955395HES7c.405G>C (p.Pro135=)
c.390G>C (p.Pro130=)
c.381G>C (p.Pro127=)
c.510G>C (p.Pro170=)
c.501G>C (p.Pro167=)
c.492G>C (p.Pro164=)
c.363G>C (p.Pro121=)
n.69+2045C>G
17g.8121859C>TCA497955396HES7c.405G>A (p.Pro135=)
c.390G>A (p.Pro130=)
c.381G>A (p.Pro127=)
c.510G>A (p.Pro170=)
c.501G>A (p.Pro167=)
c.492G>A (p.Pro164=)
c.363G>A (p.Pro121=)
n.69+2045C>T
 gnomAD v4
17g.8121860G>ACA8368643HES7c.404C>T (p.Pro135Leu)
c.389C>T (p.Pro130Leu)
c.380C>T (p.Pro127Leu)
c.509C>T (p.Pro170Leu)
c.500C>T (p.Pro167Leu)
c.491C>T (p.Pro164Leu)
c.362C>T (p.Pro121Leu)
n.69+2046G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.8121860G>CCA397988271HES7c.404C>G (p.Pro135Arg)
c.389C>G (p.Pro130Arg)
c.380C>G (p.Pro127Arg)
c.509C>G (p.Pro170Arg)
c.500C>G (p.Pro167Arg)
c.491C>G (p.Pro164Arg)
c.362C>G (p.Pro121Arg)
n.69+2046G>C
17g.8121860G=CA2246160542HES7c.404C= (p.Pro135=)
c.389C= (p.Pro130=)
c.380C= (p.Pro127=)
c.509C= (p.Pro170=)
c.500C= (p.Pro167=)
c.491C= (p.Pro164=)
c.362C= (p.Pro121=)
n.69+2046G=
17g.8121860G>TCA397988273HES7c.404C>A (p.Pro135Gln)
c.389C>A (p.Pro130Gln)
c.380C>A (p.Pro127Gln)
c.509C>A (p.Pro170Gln)
c.500C>A (p.Pro167Gln)
c.491C>A (p.Pro164Gln)
c.362C>A (p.Pro121Gln)
n.69+2046G>T
 gnomAD v4
17g.8121861G>ACA287537246HES7c.403C>T (p.Pro135Ser)
c.388C>T (p.Pro130Ser)
c.379C>T (p.Pro127Ser)
c.508C>T (p.Pro170Ser)
c.499C>T (p.Pro167Ser)
c.490C>T (p.Pro164Ser)
c.361C>T (p.Pro121Ser)
n.69+2047G>A
 ClinVar dbSNP gnomAD v4
17g.8121861G>CCA397988277HES7c.403C>G (p.Pro135Ala)
c.388C>G (p.Pro130Ala)
c.379C>G (p.Pro127Ala)
c.508C>G (p.Pro170Ala)
c.499C>G (p.Pro167Ala)
c.490C>G (p.Pro164Ala)
c.361C>G (p.Pro121Ala)
n.69+2047G>C
17g.8121861G=CA2246160546HES7c.403C= (p.Pro135=)
c.388C= (p.Pro130=)
c.379C= (p.Pro127=)
c.508C= (p.Pro170=)
c.499C= (p.Pro167=)
c.490C= (p.Pro164=)
c.361C= (p.Pro121=)
n.69+2047G=
17g.8121861G>TCA397988275HES7c.403C>A (p.Pro135Thr)
c.388C>A (p.Pro130Thr)
c.379C>A (p.Pro127Thr)
c.508C>A (p.Pro170Thr)
c.499C>A (p.Pro167Thr)
c.490C>A (p.Pro164Thr)
c.361C>A (p.Pro121Thr)
n.69+2047G>T
17g.8121862T>ACA397988281HES7c.402A>T (p.Lys134Asn)
c.387A>T (p.Lys129Asn)
c.378A>T (p.Lys126Asn)
c.507A>T (p.Lys169Asn)
c.498A>T (p.Lys166Asn)
c.489A>T (p.Lys163Asn)
c.360A>T (p.Lys120Asn)
n.69+2048T>A
17g.8121862T>CCA8368644HES7c.402A>G (p.Lys134=)
c.387A>G (p.Lys129=)
c.378A>G (p.Lys126=)
c.507A>G (p.Lys169=)
c.498A>G (p.Lys166=)
c.489A>G (p.Lys163=)
c.360A>G (p.Lys120=)
n.69+2048T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8121862T>GCA287537255HES7c.402A>C (p.Lys134Asn)
c.387A>C (p.Lys129Asn)
c.378A>C (p.Lys126Asn)
c.507A>C (p.Lys169Asn)
c.498A>C (p.Lys166Asn)
c.489A>C (p.Lys163Asn)
c.360A>C (p.Lys120Asn)
n.69+2048T>G
 dbSNP gnomAD v4
17g.8121862T=CA2246160551HES7c.402A= (p.Lys134=)
c.387A= (p.Lys129=)
c.378A= (p.Lys126=)
c.507A= (p.Lys169=)
c.498A= (p.Lys166=)
c.489A= (p.Lys163=)
c.360A= (p.Lys120=)
n.69+2048T=
17g.8121863T>ACA397988288HES7c.401A>T (p.Lys134Ile)
c.386A>T (p.Lys129Ile)
c.377A>T (p.Lys126Ile)
c.506A>T (p.Lys169Ile)
c.497A>T (p.Lys166Ile)
c.488A>T (p.Lys163Ile)
c.359A>T (p.Lys120Ile)
n.69+2049T>A
17g.8121863T>CCA397988290HES7c.401A>G (p.Lys134Arg)
c.386A>G (p.Lys129Arg)
c.377A>G (p.Lys126Arg)
c.506A>G (p.Lys169Arg)
c.497A>G (p.Lys166Arg)
c.488A>G (p.Lys163Arg)
c.359A>G (p.Lys120Arg)
n.69+2049T>C
 dbSNP gnomAD v2 gnomAD v4
17g.8121863T>GCA397988293HES7c.401A>C (p.Lys134Thr)
c.386A>C (p.Lys129Thr)
c.377A>C (p.Lys126Thr)
c.506A>C (p.Lys169Thr)
c.497A>C (p.Lys166Thr)
c.488A>C (p.Lys163Thr)
c.359A>C (p.Lys120Thr)
n.69+2049T>G
17g.8121863T=CA2246160559HES7c.401A= (p.Lys134=)
c.386A= (p.Lys129=)
c.377A= (p.Lys126=)
c.506A= (p.Lys169=)
c.497A= (p.Lys166=)
c.488A= (p.Lys163=)
c.359A= (p.Lys120=)
n.69+2049T=
17g.8121864T>ACA397988296HES7c.400A>T (p.Lys134Ter)
c.385A>T (p.Lys129Ter)
c.376A>T (p.Lys126Ter)
c.505A>T (p.Lys169Ter)
c.496A>T (p.Lys166Ter)
c.487A>T (p.Lys163Ter)
c.358A>T (p.Lys120Ter)
n.69+2050T>A
17g.8121864T>CCA397988299HES7c.400A>G (p.Lys134Glu)
c.385A>G (p.Lys129Glu)
c.376A>G (p.Lys126Glu)
c.505A>G (p.Lys169Glu)
c.496A>G (p.Lys166Glu)
c.487A>G (p.Lys163Glu)
c.358A>G (p.Lys120Glu)
n.69+2050T>C
17g.8121864T>GCA397988302HES7c.400A>C (p.Lys134Gln)
c.385A>C (p.Lys129Gln)
c.376A>C (p.Lys126Gln)
c.505A>C (p.Lys169Gln)
c.496A>C (p.Lys166Gln)
c.487A>C (p.Lys163Gln)
c.358A>C (p.Lys120Gln)
n.69+2050T>G
17g.8121865G>ACA497955407HES7c.399C>T (p.Pro133=)
c.384C>T (p.Pro128=)
c.375C>T (p.Pro125=)
c.504C>T (p.Pro168=)
c.495C>T (p.Pro165=)
c.486C>T (p.Pro162=)
c.357C>T (p.Pro119=)
n.69+2051G>A
 gnomAD v4
17g.8121865G>CCA497955408HES7c.399C>G (p.Pro133=)
c.384C>G (p.Pro128=)
c.375C>G (p.Pro125=)
c.504C>G (p.Pro168=)
c.495C>G (p.Pro165=)
c.486C>G (p.Pro162=)
c.357C>G (p.Pro119=)
n.69+2051G>C
17g.8121865G>TCA497955409HES7c.399C>A (p.Pro133=)
c.384C>A (p.Pro128=)
c.375C>A (p.Pro125=)
c.504C>A (p.Pro168=)
c.495C>A (p.Pro165=)
c.486C>A (p.Pro162=)
c.357C>A (p.Pro119=)
n.69+2051G>T
 gnomAD v4
17g.8121868delCA2635937898HES7c.399del (p.Lys134AsnfsTer8)
c.384del (p.Lys129AsnfsTer8)
c.375del (p.Lys126AsnfsTer8)
c.504del (p.Lys169AsnfsTer8)
c.495del (p.Lys166AsnfsTer8)
c.486del (p.Lys163AsnfsTer8)
c.357del (p.Lys120AsnfsTer8)
n.69+2054del
 gnomAD v4
17g.8121866G>ACA397988306HES7c.398C>T (p.Pro133Leu)
c.383C>T (p.Pro128Leu)
c.374C>T (p.Pro125Leu)
c.503C>T (p.Pro168Leu)
c.494C>T (p.Pro165Leu)
c.485C>T (p.Pro162Leu)
c.356C>T (p.Pro119Leu)
n.69+2052G>A
17g.8121866G>CCA397988308HES7c.398C>G (p.Pro133Arg)
c.383C>G (p.Pro128Arg)
c.374C>G (p.Pro125Arg)
c.503C>G (p.Pro168Arg)
c.494C>G (p.Pro165Arg)
c.485C>G (p.Pro162Arg)
c.356C>G (p.Pro119Arg)
n.69+2052G>C
17g.8121866G=CA2246160563HES7c.398C= (p.Pro133=)
c.383C= (p.Pro128=)
c.374C= (p.Pro125=)
c.503C= (p.Pro168=)
c.494C= (p.Pro165=)
c.485C= (p.Pro162=)
c.356C= (p.Pro119=)
n.69+2052G=
17g.8121866G>TCA8368645HES7c.398C>A (p.Pro133His)
c.383C>A (p.Pro128His)
c.374C>A (p.Pro125His)
c.503C>A (p.Pro168His)
c.494C>A (p.Pro165His)
c.485C>A (p.Pro162His)
c.356C>A (p.Pro119His)
n.69+2052G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.8121867G>ACA397988325HES7c.397C>T (p.Pro133Ser)
c.382C>T (p.Pro128Ser)
c.373C>T (p.Pro125Ser)
c.502C>T (p.Pro168Ser)
c.493C>T (p.Pro165Ser)
c.484C>T (p.Pro162Ser)
c.355C>T (p.Pro119Ser)
n.69+2053G>A
 gnomAD v4
17g.8121867G>CCA397988322HES7c.397C>G (p.Pro133Ala)
c.382C>G (p.Pro128Ala)
c.373C>G (p.Pro125Ala)
c.502C>G (p.Pro168Ala)
c.493C>G (p.Pro165Ala)
c.484C>G (p.Pro162Ala)
c.355C>G (p.Pro119Ala)
n.69+2053G>C
17g.8121867G>TCA397988312HES7c.397C>A (p.Pro133Thr)
c.382C>A (p.Pro128Thr)
c.373C>A (p.Pro125Thr)
c.502C>A (p.Pro168Thr)
c.493C>A (p.Pro165Thr)
c.484C>A (p.Pro162Thr)
c.355C>A (p.Pro119Thr)
n.69+2053G>T
 gnomAD v4
17g.8121868G>ACA497955413HES7c.396C>T (p.Arg132=)
c.381C>T (p.Arg127=)
c.372C>T (p.Arg124=)
c.501C>T (p.Arg167=)
c.492C>T (p.Arg164=)
c.483C>T (p.Arg161=)
c.354C>T (p.Arg118=)
n.69+2054G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.8121868G>CCA497955414HES7c.396C>G (p.Arg132=)
c.381C>G (p.Arg127=)
c.372C>G (p.Arg124=)
c.501C>G (p.Arg167=)
c.492C>G (p.Arg164=)
c.483C>G (p.Arg161=)
c.354C>G (p.Arg118=)
n.69+2054G>C
17g.8121868G=CA2246160569HES7c.396C= (p.Arg132=)
c.381C= (p.Arg127=)
c.372C= (p.Arg124=)
c.501C= (p.Arg167=)
c.492C= (p.Arg164=)
c.483C= (p.Arg161=)
c.354C= (p.Arg118=)
n.69+2054G=
17g.8121868G>TCA497955415HES7c.396C>A (p.Arg132=)
c.381C>A (p.Arg127=)
c.372C>A (p.Arg124=)
c.501C>A (p.Arg167=)
c.492C>A (p.Arg164=)
c.483C>A (p.Arg161=)
c.354C>A (p.Arg118=)
n.69+2054G>T
 gnomAD v4
17g.8121869C>ACA8368646HES7c.395G>T (p.Arg132Leu)
c.380G>T (p.Arg127Leu)
c.371G>T (p.Arg124Leu)
c.500G>T (p.Arg167Leu)
c.491G>T (p.Arg164Leu)
c.482G>T (p.Arg161Leu)
c.353G>T (p.Arg118Leu)
n.69+2055C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8121869C=CA2246160570HES7c.395G= (p.Arg132=)
c.380G= (p.Arg127=)
c.371G= (p.Arg124=)
c.500G= (p.Arg167=)
c.491G= (p.Arg164=)
c.482G= (p.Arg161=)
c.353G= (p.Arg118=)
n.69+2055C=
17g.8121869C>GCA397988329HES7c.395G>C (p.Arg132Pro)
c.380G>C (p.Arg127Pro)
c.371G>C (p.Arg124Pro)
c.500G>C (p.Arg167Pro)
c.491G>C (p.Arg164Pro)
c.482G>C (p.Arg161Pro)
c.353G>C (p.Arg118Pro)
n.69+2055C>G
 gnomAD v4
17g.8121869C>TCA397988332HES7c.395G>A (p.Arg132His)
c.380G>A (p.Arg127His)
c.371G>A (p.Arg124His)
c.500G>A (p.Arg167His)
c.491G>A (p.Arg164His)
c.482G>A (p.Arg161His)
c.353G>A (p.Arg118His)
n.69+2055C>T
 gnomAD v4
17g.8121870G>ACA8368647HES7c.394C>T (p.Arg132Cys)
c.379C>T (p.Arg127Cys)
c.370C>T (p.Arg124Cys)
c.499C>T (p.Arg167Cys)
c.490C>T (p.Arg164Cys)
c.481C>T (p.Arg161Cys)
c.352C>T (p.Arg118Cys)
n.69+2056G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8121870G>CCA397988338HES7c.394C>G (p.Arg132Gly)
c.379C>G (p.Arg127Gly)
c.370C>G (p.Arg124Gly)
c.499C>G (p.Arg167Gly)
c.490C>G (p.Arg164Gly)
c.481C>G (p.Arg161Gly)
c.352C>G (p.Arg118Gly)
n.69+2056G>C
17g.8121870G=CA2246160574HES7c.394C= (p.Arg132=)
c.379C= (p.Arg127=)
c.370C= (p.Arg124=)
c.499C= (p.Arg167=)
c.490C= (p.Arg164=)
c.481C= (p.Arg161=)
c.352C= (p.Arg118=)
n.69+2056G=
17g.8121870G>TCA8368648HES7c.394C>A (p.Arg132Ser)
c.379C>A (p.Arg127Ser)
c.370C>A (p.Arg124Ser)
c.499C>A (p.Arg167Ser)
c.490C>A (p.Arg164Ser)
c.481C>A (p.Arg161Ser)
c.352C>A (p.Arg118Ser)
n.69+2056G>T
 dbSNP ExAC gnomAD v2 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

Number of alleles fetched