Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.8117792_8126946delCA2573154518 ClinVar
17g.8121890_8121931delCA2635938137HES7c.338_379del (p.His113_Ala126del)
c.323_364del (p.His108_Ala121del)
c.314_355del (p.His105_Ala118del)
c.443_484del (p.His148_Ala161del)
c.434_475del (p.His145_Ala158del)
c.425_466del (p.His142_Ala155del)
c.296_337del (p.His99_Ala112del)
n.69+2076_69+2117del
 gnomAD v4
17g.8121913C>ACA497955492HES7c.351G>T (p.Pro117=)
c.336G>T (p.Pro112=)
c.327G>T (p.Pro109=)
c.456G>T (p.Pro152=)
c.447G>T (p.Pro149=)
c.438G>T (p.Pro146=)
c.309G>T (p.Pro103=)
n.69+2099C>A
 gnomAD v4
17g.8121913C>GCA497955493HES7c.351G>C (p.Pro117=)
c.336G>C (p.Pro112=)
c.327G>C (p.Pro109=)
c.456G>C (p.Pro152=)
c.447G>C (p.Pro149=)
c.438G>C (p.Pro146=)
c.309G>C (p.Pro103=)
n.69+2099C>G
17g.8121913C>TCA497955494HES7c.351G>A (p.Pro117=)
c.336G>A (p.Pro112=)
c.327G>A (p.Pro109=)
c.456G>A (p.Pro152=)
c.447G>A (p.Pro149=)
c.438G>A (p.Pro146=)
c.309G>A (p.Pro103=)
n.69+2099C>T
 gnomAD v4
17g.8121914G>ACA397988523HES7c.350C>T (p.Pro117Leu)
c.335C>T (p.Pro112Leu)
c.326C>T (p.Pro109Leu)
c.455C>T (p.Pro152Leu)
c.446C>T (p.Pro149Leu)
c.437C>T (p.Pro146Leu)
c.308C>T (p.Pro103Leu)
n.69+2100G>A
 dbSNP gnomAD v2 gnomAD v4
17g.8121914G>CCA8368660HES7c.350C>G (p.Pro117Arg)
c.335C>G (p.Pro112Arg)
c.326C>G (p.Pro109Arg)
c.455C>G (p.Pro152Arg)
c.446C>G (p.Pro149Arg)
c.437C>G (p.Pro146Arg)
c.308C>G (p.Pro103Arg)
n.69+2100G>C
 dbSNP ExAC gnomAD v3 gnomAD v4
17g.8121914G=CA2246160675HES7c.350C= (p.Pro117=)
c.335C= (p.Pro112=)
c.326C= (p.Pro109=)
c.455C= (p.Pro152=)
c.446C= (p.Pro149=)
c.437C= (p.Pro146=)
c.308C= (p.Pro103=)
n.69+2100G=
17g.8121914G>TCA397988526HES7c.350C>A (p.Pro117Gln)
c.335C>A (p.Pro112Gln)
c.326C>A (p.Pro109Gln)
c.455C>A (p.Pro152Gln)
c.446C>A (p.Pro149Gln)
c.437C>A (p.Pro146Gln)
c.308C>A (p.Pro103Gln)
n.69+2100G>T
 ClinVar dbSNP gnomAD v4
17g.8121915G>ACA397988529HES7c.349C>T (p.Pro117Ser)
c.334C>T (p.Pro112Ser)
c.325C>T (p.Pro109Ser)
c.454C>T (p.Pro152Ser)
c.445C>T (p.Pro149Ser)
c.436C>T (p.Pro146Ser)
c.307C>T (p.Pro103Ser)
n.69+2101G>A
17g.8121915G>CCA397988530HES7c.349C>G (p.Pro117Ala)
c.334C>G (p.Pro112Ala)
c.325C>G (p.Pro109Ala)
c.454C>G (p.Pro152Ala)
c.445C>G (p.Pro149Ala)
c.436C>G (p.Pro146Ala)
c.307C>G (p.Pro103Ala)
n.69+2101G>C
17g.8121915G>TCA397988532HES7c.349C>A (p.Pro117Thr)
c.334C>A (p.Pro112Thr)
c.325C>A (p.Pro109Thr)
c.454C>A (p.Pro152Thr)
c.445C>A (p.Pro149Thr)
c.436C>A (p.Pro146Thr)
c.307C>A (p.Pro103Thr)
n.69+2101G>T
 gnomAD v4
17g.8121916G>ACA8368661HES7c.348C>T (p.Ser116=)
c.333C>T (p.Ser111=)
c.324C>T (p.Ser108=)
c.453C>T (p.Ser151=)
c.444C>T (p.Ser148=)
c.435C>T (p.Ser145=)
c.306C>T (p.Ser102=)
n.69+2102G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8121916G>CCA397988535HES7c.348C>G (p.Ser116Arg)
c.333C>G (p.Ser111Arg)
c.324C>G (p.Ser108Arg)
c.453C>G (p.Ser151Arg)
c.444C>G (p.Ser148Arg)
c.435C>G (p.Ser145Arg)
c.306C>G (p.Ser102Arg)
n.69+2102G>C
 gnomAD v4
17g.8121916G=CA2246160679HES7c.348C= (p.Ser116=)
c.333C= (p.Ser111=)
c.324C= (p.Ser108=)
c.453C= (p.Ser151=)
c.444C= (p.Ser148=)
c.435C= (p.Ser145=)
c.306C= (p.Ser102=)
n.69+2102G=
17g.8121916G>TCA397988537HES7c.348C>A (p.Ser116Arg)
c.333C>A (p.Ser111Arg)
c.324C>A (p.Ser108Arg)
c.453C>A (p.Ser151Arg)
c.444C>A (p.Ser148Arg)
c.435C>A (p.Ser145Arg)
c.306C>A (p.Ser102Arg)
n.69+2102G>T
 gnomAD v4
17g.8121917C>ACA397988539HES7c.347G>T (p.Ser116Ile)
c.332G>T (p.Ser111Ile)
c.323G>T (p.Ser108Ile)
c.452G>T (p.Ser151Ile)
c.443G>T (p.Ser148Ile)
c.434G>T (p.Ser145Ile)
c.305G>T (p.Ser102Ile)
n.69+2103C>A
 gnomAD v4
17g.8121917C>GCA397988540HES7c.347G>C (p.Ser116Thr)
c.332G>C (p.Ser111Thr)
c.323G>C (p.Ser108Thr)
c.452G>C (p.Ser151Thr)
c.443G>C (p.Ser148Thr)
c.434G>C (p.Ser145Thr)
c.305G>C (p.Ser102Thr)
n.69+2103C>G
17g.8121917C>TCA397988542HES7c.347G>A (p.Ser116Asn)
c.332G>A (p.Ser111Asn)
c.323G>A (p.Ser108Asn)
c.452G>A (p.Ser151Asn)
c.443G>A (p.Ser148Asn)
c.434G>A (p.Ser145Asn)
c.305G>A (p.Ser102Asn)
n.69+2103C>T
 gnomAD v4
17g.8121918T>ACA397988545HES7c.346A>T (p.Ser116Cys)
c.331A>T (p.Ser111Cys)
c.322A>T (p.Ser108Cys)
c.451A>T (p.Ser151Cys)
c.442A>T (p.Ser148Cys)
c.433A>T (p.Ser145Cys)
c.304A>T (p.Ser102Cys)
n.69+2104T>A
17g.8121918T>CCA397988546HES7c.346A>G (p.Ser116Gly)
c.331A>G (p.Ser111Gly)
c.322A>G (p.Ser108Gly)
c.451A>G (p.Ser151Gly)
c.442A>G (p.Ser148Gly)
c.433A>G (p.Ser145Gly)
c.304A>G (p.Ser102Gly)
n.69+2104T>C
17g.8121918T>GCA397988543HES7c.346A>C (p.Ser116Arg)
c.331A>C (p.Ser111Arg)
c.322A>C (p.Ser108Arg)
c.451A>C (p.Ser151Arg)
c.442A>C (p.Ser148Arg)
c.433A>C (p.Ser145Arg)
c.304A>C (p.Ser102Arg)
n.69+2104T>G
17g.8121919G>ACA497955495HES7c.345C>T (p.Ala115=)
c.330C>T (p.Ala110=)
c.321C>T (p.Ala107=)
c.450C>T (p.Ala150=)
c.441C>T (p.Ala147=)
c.432C>T (p.Ala144=)
c.303C>T (p.Ala101=)
n.69+2105G>A
 gnomAD v4
17g.8121919G>CCA497955497HES7c.345C>G (p.Ala115=)
c.330C>G (p.Ala110=)
c.321C>G (p.Ala107=)
c.450C>G (p.Ala150=)
c.441C>G (p.Ala147=)
c.432C>G (p.Ala144=)
c.303C>G (p.Ala101=)
n.69+2105G>C
17g.8121919G>TCA497955496HES7c.345C>A (p.Ala115=)
c.330C>A (p.Ala110=)
c.321C>A (p.Ala107=)
c.450C>A (p.Ala150=)
c.441C>A (p.Ala147=)
c.432C>A (p.Ala144=)
c.303C>A (p.Ala101=)
n.69+2105G>T
17g.8121920G>ACA397988549HES7c.344C>T (p.Ala115Val)
c.329C>T (p.Ala110Val)
c.320C>T (p.Ala107Val)
c.449C>T (p.Ala150Val)
c.440C>T (p.Ala147Val)
c.431C>T (p.Ala144Val)
c.302C>T (p.Ala101Val)
n.69+2106G>A
17g.8121920G>CCA397988551HES7c.344C>G (p.Ala115Gly)
c.329C>G (p.Ala110Gly)
c.320C>G (p.Ala107Gly)
c.449C>G (p.Ala150Gly)
c.440C>G (p.Ala147Gly)
c.431C>G (p.Ala144Gly)
c.302C>G (p.Ala101Gly)
n.69+2106G>C
 dbSNP gnomAD v2 gnomAD v4
17g.8121920G=CA2246160683HES7c.344C= (p.Ala115=)
c.329C= (p.Ala110=)
c.320C= (p.Ala107=)
c.449C= (p.Ala150=)
c.440C= (p.Ala147=)
c.431C= (p.Ala144=)
c.302C= (p.Ala101=)
n.69+2106G=
17g.8121920G>TCA397988552HES7c.344C>A (p.Ala115Asp)
c.329C>A (p.Ala110Asp)
c.320C>A (p.Ala107Asp)
c.449C>A (p.Ala150Asp)
c.440C>A (p.Ala147Asp)
c.431C>A (p.Ala144Asp)
c.302C>A (p.Ala101Asp)
n.69+2106G>T
 gnomAD v4
17g.8121921C>ACA397988554HES7c.343G>T (p.Ala115Ser)
c.328G>T (p.Ala110Ser)
c.319G>T (p.Ala107Ser)
c.448G>T (p.Ala150Ser)
c.439G>T (p.Ala147Ser)
c.430G>T (p.Ala144Ser)
c.301G>T (p.Ala101Ser)
n.69+2107C>A
 gnomAD v4
17g.8121921C=CA2246160688HES7c.343G= (p.Ala115=)
c.328G= (p.Ala110=)
c.319G= (p.Ala107=)
c.448G= (p.Ala150=)
c.439G= (p.Ala147=)
c.430G= (p.Ala144=)
c.301G= (p.Ala101=)
n.69+2107C=
17g.8121921C>GCA397988556HES7c.343G>C (p.Ala115Pro)
c.328G>C (p.Ala110Pro)
c.319G>C (p.Ala107Pro)
c.448G>C (p.Ala150Pro)
c.439G>C (p.Ala147Pro)
c.430G>C (p.Ala144Pro)
c.301G>C (p.Ala101Pro)
n.69+2107C>G
17g.8121921C>TCA397988558HES7c.343G>A (p.Ala115Thr)
c.328G>A (p.Ala110Thr)
c.319G>A (p.Ala107Thr)
c.448G>A (p.Ala150Thr)
c.439G>A (p.Ala147Thr)
c.430G>A (p.Ala144Thr)
c.301G>A (p.Ala101Thr)
n.69+2107C>T
 dbSNP gnomAD v2 gnomAD v4
17g.8121922G>ACA497955498HES7c.342C>T (p.Asp114=)
c.327C>T (p.Asp109=)
c.318C>T (p.Asp106=)
c.447C>T (p.Asp149=)
c.438C>T (p.Asp146=)
c.429C>T (p.Asp143=)
c.300C>T (p.Asp100=)
n.69+2108G>A
 gnomAD v4
17g.8121922G>CCA397988560HES7c.342C>G (p.Asp114Glu)
c.327C>G (p.Asp109Glu)
c.318C>G (p.Asp106Glu)
c.447C>G (p.Asp149Glu)
c.438C>G (p.Asp146Glu)
c.429C>G (p.Asp143Glu)
c.300C>G (p.Asp100Glu)
n.69+2108G>C
 COSMIC
17g.8121922G>TCA397988562HES7c.342C>A (p.Asp114Glu)
c.327C>A (p.Asp109Glu)
c.318C>A (p.Asp106Glu)
c.447C>A (p.Asp149Glu)
c.438C>A (p.Asp146Glu)
c.429C>A (p.Asp143Glu)
c.300C>A (p.Asp100Glu)
n.69+2108G>T
 gnomAD v4
17g.8121923T>ACA397988564HES7c.341A>T (p.Asp114Val)
c.326A>T (p.Asp109Val)
c.317A>T (p.Asp106Val)
c.446A>T (p.Asp149Val)
c.437A>T (p.Asp146Val)
c.428A>T (p.Asp143Val)
c.299A>T (p.Asp100Val)
n.69+2109T>A
17g.8121923T>CCA397988566HES7c.341A>G (p.Asp114Gly)
c.326A>G (p.Asp109Gly)
c.317A>G (p.Asp106Gly)
c.446A>G (p.Asp149Gly)
c.437A>G (p.Asp146Gly)
c.428A>G (p.Asp143Gly)
c.299A>G (p.Asp100Gly)
n.69+2109T>C
 gnomAD v4
17g.8121923T>GCA397988567HES7c.341A>C (p.Asp114Ala)
c.326A>C (p.Asp109Ala)
c.317A>C (p.Asp106Ala)
c.446A>C (p.Asp149Ala)
c.437A>C (p.Asp146Ala)
c.428A>C (p.Asp143Ala)
c.299A>C (p.Asp100Ala)
n.69+2109T>G
 gnomAD v4
17g.8121924C>ACA397988570HES7c.340G>T (p.Asp114Tyr)
c.325G>T (p.Asp109Tyr)
c.316G>T (p.Asp106Tyr)
c.445G>T (p.Asp149Tyr)
c.436G>T (p.Asp146Tyr)
c.427G>T (p.Asp143Tyr)
c.298G>T (p.Asp100Tyr)
n.69+2110C>A
 gnomAD v4
17g.8121924C>GCA397988571HES7c.340G>C (p.Asp114His)
c.325G>C (p.Asp109His)
c.316G>C (p.Asp106His)
c.445G>C (p.Asp149His)
c.436G>C (p.Asp146His)
c.427G>C (p.Asp143His)
c.298G>C (p.Asp100His)
n.69+2110C>G
17g.8121924C>TCA397988573HES7c.340G>A (p.Asp114Asn)
c.325G>A (p.Asp109Asn)
c.316G>A (p.Asp106Asn)
c.445G>A (p.Asp149Asn)
c.436G>A (p.Asp146Asn)
c.427G>A (p.Asp143Asn)
c.298G>A (p.Asp100Asn)
n.69+2110C>T
 gnomAD v4
17g.8121925G>ACA497955499HES7c.339C>T (p.His113=)
c.324C>T (p.His108=)
c.315C>T (p.His105=)
c.444C>T (p.His148=)
c.435C>T (p.His145=)
c.426C>T (p.His142=)
c.297C>T (p.His99=)
n.69+2111G>A
 dbSNP gnomAD v2 gnomAD v4
17g.8121925G>CCA8368662HES7c.339C>G (p.His113Gln)
c.324C>G (p.His108Gln)
c.315C>G (p.His105Gln)
c.444C>G (p.His148Gln)
c.435C>G (p.His145Gln)
c.426C>G (p.His142Gln)
c.297C>G (p.His99Gln)
n.69+2111G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8121925G=CA2246160693HES7c.339C= (p.His113=)
c.324C= (p.His108=)
c.315C= (p.His105=)
c.444C= (p.His148=)
c.435C= (p.His145=)
c.426C= (p.His142=)
c.297C= (p.His99=)
n.69+2111G=
17g.8121925G>TCA397988576HES7c.339C>A (p.His113Gln)
c.324C>A (p.His108Gln)
c.315C>A (p.His105Gln)
c.444C>A (p.His148Gln)
c.435C>A (p.His145Gln)
c.426C>A (p.His142Gln)
c.297C>A (p.His99Gln)
n.69+2111G>T
 gnomAD v4
17g.8121926T>ACA397988578HES7c.338A>T (p.His113Leu)
c.323A>T (p.His108Leu)
c.314A>T (p.His105Leu)
c.443A>T (p.His148Leu)
c.434A>T (p.His145Leu)
c.425A>T (p.His142Leu)
c.296A>T (p.His99Leu)
n.69+2112T>A
17g.8121926T>CCA397988580HES7c.338A>G (p.His113Arg)
c.323A>G (p.His108Arg)
c.314A>G (p.His105Arg)
c.443A>G (p.His148Arg)
c.434A>G (p.His145Arg)
c.425A>G (p.His142Arg)
c.296A>G (p.His99Arg)
n.69+2112T>C
 gnomAD v4
17g.8121926T>GCA397988581HES7c.338A>C (p.His113Pro)
c.323A>C (p.His108Pro)
c.314A>C (p.His105Pro)
c.443A>C (p.His148Pro)
c.434A>C (p.His145Pro)
c.425A>C (p.His142Pro)
c.296A>C (p.His99Pro)
n.69+2112T>G
17g.8121927G>ACA397988583HES7c.337C>T (p.His113Tyr)
c.322C>T (p.His108Tyr)
c.313C>T (p.His105Tyr)
c.442C>T (p.His148Tyr)
c.433C>T (p.His145Tyr)
c.424C>T (p.His142Tyr)
c.295C>T (p.His99Tyr)
n.69+2113G>A
 gnomAD v4
17g.8121927G>CCA397988585HES7c.337C>G (p.His113Asp)
c.322C>G (p.His108Asp)
c.313C>G (p.His105Asp)
c.442C>G (p.His148Asp)
c.433C>G (p.His145Asp)
c.424C>G (p.His142Asp)
c.295C>G (p.His99Asp)
n.69+2113G>C
 gnomAD v4
17g.8121927G>TCA397988587HES7c.337C>A (p.His113Asn)
c.322C>A (p.His108Asn)
c.313C>A (p.His105Asn)
c.442C>A (p.His148Asn)
c.433C>A (p.His145Asn)
c.424C>A (p.His142Asn)
c.295C>A (p.His99Asn)
n.69+2113G>T
 gnomAD v4
17g.8121928C>ACA497955500HES7c.336G>T (p.Ala112=)
c.321G>T (p.Ala107=)
c.312G>T (p.Ala104=)
c.441G>T (p.Ala147=)
c.432G>T (p.Ala144=)
c.423G>T (p.Ala141=)
c.294G>T (p.Ala98=)
n.69+2114C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8121928C=CA2246160697HES7c.336G= (p.Ala112=)
c.321G= (p.Ala107=)
c.312G= (p.Ala104=)
c.441G= (p.Ala147=)
c.432G= (p.Ala144=)
c.423G= (p.Ala141=)
c.294G= (p.Ala98=)
n.69+2114C=
17g.8121928C>GCA497955501HES7c.336G>C (p.Ala112=)
c.321G>C (p.Ala107=)
c.312G>C (p.Ala104=)
c.441G>C (p.Ala147=)
c.432G>C (p.Ala144=)
c.423G>C (p.Ala141=)
c.294G>C (p.Ala98=)
n.69+2114C>G
 gnomAD v4
17g.8121928C>TCA497955502HES7c.336G>A (p.Ala112=)
c.321G>A (p.Ala107=)
c.312G>A (p.Ala104=)
c.441G>A (p.Ala147=)
c.432G>A (p.Ala144=)
c.423G>A (p.Ala141=)
c.294G>A (p.Ala98=)
n.69+2114C>T
 gnomAD v4
17g.8121929G>ACA397988589HES7c.335C>T (p.Ala112Val)
c.320C>T (p.Ala107Val)
c.311C>T (p.Ala104Val)
c.440C>T (p.Ala147Val)
c.431C>T (p.Ala144Val)
c.422C>T (p.Ala141Val)
c.293C>T (p.Ala98Val)
n.69+2115G>A
 gnomAD v4
17g.8121929G>CCA397988591HES7c.335C>G (p.Ala112Gly)
c.320C>G (p.Ala107Gly)
c.311C>G (p.Ala104Gly)
c.440C>G (p.Ala147Gly)
c.431C>G (p.Ala144Gly)
c.422C>G (p.Ala141Gly)
c.293C>G (p.Ala98Gly)
n.69+2115G>C
17g.8121929G>TCA397988593HES7c.335C>A (p.Ala112Glu)
c.320C>A (p.Ala107Glu)
c.311C>A (p.Ala104Glu)
c.440C>A (p.Ala147Glu)
c.431C>A (p.Ala144Glu)
c.422C>A (p.Ala141Glu)
c.293C>A (p.Ala98Glu)
n.69+2115G>T
 gnomAD v4
17g.8121930C>ACA397988595HES7c.334G>T (p.Ala112Ser)
c.319G>T (p.Ala107Ser)
c.310G>T (p.Ala104Ser)
c.439G>T (p.Ala147Ser)
c.430G>T (p.Ala144Ser)
c.421G>T (p.Ala141Ser)
c.292G>T (p.Ala98Ser)
n.69+2116C>A
 gnomAD v4
17g.8121930C>GCA397988596HES7c.334G>C (p.Ala112Pro)
c.319G>C (p.Ala107Pro)
c.310G>C (p.Ala104Pro)
c.439G>C (p.Ala147Pro)
c.430G>C (p.Ala144Pro)
c.421G>C (p.Ala141Pro)
c.292G>C (p.Ala98Pro)
n.69+2116C>G
17g.8121930C>TCA397988598HES7c.334G>A (p.Ala112Thr)
c.319G>A (p.Ala107Thr)
c.310G>A (p.Ala104Thr)
c.439G>A (p.Ala147Thr)
c.430G>A (p.Ala144Thr)
c.421G>A (p.Ala141Thr)
c.292G>A (p.Ala98Thr)
n.69+2116C>T
 gnomAD v4
17g.8121931G>ACA497955503HES7c.333C>T (p.Phe111=)
c.318C>T (p.Phe106=)
c.309C>T (p.Phe103=)
c.438C>T (p.Phe146=)
c.429C>T (p.Phe143=)
c.420C>T (p.Phe140=)
c.291C>T (p.Phe97=)
n.69+2117G>A
 gnomAD v4
17g.8121931G>CCA397988600HES7c.333C>G (p.Phe111Leu)
c.318C>G (p.Phe106Leu)
c.309C>G (p.Phe103Leu)
c.438C>G (p.Phe146Leu)
c.429C>G (p.Phe143Leu)
c.420C>G (p.Phe140Leu)
c.291C>G (p.Phe97Leu)
n.69+2117G>C
 gnomAD v4
17g.8121931G>TCA397988601HES7c.333C>A (p.Phe111Leu)
c.318C>A (p.Phe106Leu)
c.309C>A (p.Phe103Leu)
c.438C>A (p.Phe146Leu)
c.429C>A (p.Phe143Leu)
c.420C>A (p.Phe140Leu)
c.291C>A (p.Phe97Leu)
n.69+2117G>T
 gnomAD v4
17g.8121932A>CCA397988604HES7c.332T>G (p.Phe111Cys)
c.317T>G (p.Phe106Cys)
c.308T>G (p.Phe103Cys)
c.437T>G (p.Phe146Cys)
c.428T>G (p.Phe143Cys)
c.419T>G (p.Phe140Cys)
c.290T>G (p.Phe97Cys)
n.69+2118A>C
17g.8121932A>GCA397988607HES7c.332T>C (p.Phe111Ser)
c.317T>C (p.Phe106Ser)
c.308T>C (p.Phe103Ser)
c.437T>C (p.Phe146Ser)
c.428T>C (p.Phe143Ser)
c.419T>C (p.Phe140Ser)
c.290T>C (p.Phe97Ser)
n.69+2118A>G
17g.8121932A>TCA397988603HES7c.332T>A (p.Phe111Tyr)
c.317T>A (p.Phe106Tyr)
c.308T>A (p.Phe103Tyr)
c.437T>A (p.Phe146Tyr)
c.428T>A (p.Phe143Tyr)
c.419T>A (p.Phe140Tyr)
c.290T>A (p.Phe97Tyr)
n.69+2118A>T
17g.8121933A>CCA397988611HES7c.331T>G (p.Phe111Val)
c.316T>G (p.Phe106Val)
c.307T>G (p.Phe103Val)
c.436T>G (p.Phe146Val)
c.427T>G (p.Phe143Val)
c.418T>G (p.Phe140Val)
c.289T>G (p.Phe97Val)
n.69+2119A>C
 gnomAD v4
17g.8121933A>GCA397988609HES7c.331T>C (p.Phe111Leu)
c.316T>C (p.Phe106Leu)
c.307T>C (p.Phe103Leu)
c.436T>C (p.Phe146Leu)
c.427T>C (p.Phe143Leu)
c.418T>C (p.Phe140Leu)
c.289T>C (p.Phe97Leu)
n.69+2119A>G
 gnomAD v4
17g.8121933A>TCA397988613HES7c.331T>A (p.Phe111Ile)
c.316T>A (p.Phe106Ile)
c.307T>A (p.Phe103Ile)
c.436T>A (p.Phe146Ile)
c.427T>A (p.Phe143Ile)
c.418T>A (p.Phe140Ile)
c.289T>A (p.Phe97Ile)
n.69+2119A>T
 gnomAD v4
17g.8121934G>ACA497955504HES7c.330C>T (p.Ala110=)
c.315C>T (p.Ala105=)
c.306C>T (p.Ala102=)
c.435C>T (p.Ala145=)
c.426C>T (p.Ala142=)
c.417C>T (p.Ala139=)
c.288C>T (p.Ala96=)
n.69+2120G>A
 dbSNP gnomAD v2 gnomAD v4
17g.8121934G>CCA497955505HES7c.330C>G (p.Ala110=)
c.315C>G (p.Ala105=)
c.306C>G (p.Ala102=)
c.435C>G (p.Ala145=)
c.426C>G (p.Ala142=)
c.417C>G (p.Ala139=)
c.288C>G (p.Ala96=)
n.69+2120G>C
17g.8121934G=CA2246160700HES7c.330C= (p.Ala110=)
c.315C= (p.Ala105=)
c.306C= (p.Ala102=)
c.435C= (p.Ala145=)
c.426C= (p.Ala142=)
c.417C= (p.Ala139=)
c.288C= (p.Ala96=)
n.69+2120G=
17g.8121934G>TCA497955506HES7c.330C>A (p.Ala110=)
c.315C>A (p.Ala105=)
c.306C>A (p.Ala102=)
c.435C>A (p.Ala145=)
c.426C>A (p.Ala142=)
c.417C>A (p.Ala139=)
c.288C>A (p.Ala96=)
n.69+2120G>T
 gnomAD v4
17g.8121935G>ACA397988615HES7c.329C>T (p.Ala110Val)
c.314C>T (p.Ala105Val)
c.305C>T (p.Ala102Val)
c.434C>T (p.Ala145Val)
c.425C>T (p.Ala142Val)
c.416C>T (p.Ala139Val)
c.287C>T (p.Ala96Val)
n.69+2121G>A
 dbSNP gnomAD v2 gnomAD v4
17g.8121935G>CCA397988619HES7c.329C>G (p.Ala110Gly)
c.314C>G (p.Ala105Gly)
c.305C>G (p.Ala102Gly)
c.434C>G (p.Ala145Gly)
c.425C>G (p.Ala142Gly)
c.416C>G (p.Ala139Gly)
c.287C>G (p.Ala96Gly)
n.69+2121G>C
17g.8121935G=CA2246160701HES7c.329C= (p.Ala110=)
c.314C= (p.Ala105=)
c.305C= (p.Ala102=)
c.434C= (p.Ala145=)
c.425C= (p.Ala142=)
c.416C= (p.Ala139=)
c.287C= (p.Ala96=)
n.69+2121G=
17g.8121935G>TCA397988617HES7c.329C>A (p.Ala110Asp)
c.314C>A (p.Ala105Asp)
c.305C>A (p.Ala102Asp)
c.434C>A (p.Ala145Asp)
c.425C>A (p.Ala142Asp)
c.416C>A (p.Ala139Asp)
c.287C>A (p.Ala96Asp)
n.69+2121G>T
 gnomAD v4
17g.8121936C>ACA397988621HES7c.328G>T (p.Ala110Ser)
c.313G>T (p.Ala105Ser)
c.304G>T (p.Ala102Ser)
c.433G>T (p.Ala145Ser)
c.424G>T (p.Ala142Ser)
c.415G>T (p.Ala139Ser)
c.286G>T (p.Ala96Ser)
n.69+2122C>A
 gnomAD v4
17g.8121936C=CA2246160705HES7c.328G= (p.Ala110=)
c.313G= (p.Ala105=)
c.304G= (p.Ala102=)
c.433G= (p.Ala145=)
c.424G= (p.Ala142=)
c.415G= (p.Ala139=)
c.286G= (p.Ala96=)
n.69+2122C=
17g.8121936C>GCA397988625HES7c.328G>C (p.Ala110Pro)
c.313G>C (p.Ala105Pro)
c.304G>C (p.Ala102Pro)
c.433G>C (p.Ala145Pro)
c.424G>C (p.Ala142Pro)
c.415G>C (p.Ala139Pro)
c.286G>C (p.Ala96Pro)
n.69+2122C>G
17g.8121936C>TCA397988623HES7c.328G>A (p.Ala110Thr)
c.313G>A (p.Ala105Thr)
c.304G>A (p.Ala102Thr)
c.433G>A (p.Ala145Thr)
c.424G>A (p.Ala142Thr)
c.415G>A (p.Ala139Thr)
c.286G>A (p.Ala96Thr)
n.69+2122C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8121937C>ACA497955507HES7c.327G>T (p.Ala109=)
c.312G>T (p.Ala104=)
c.303G>T (p.Ala101=)
c.432G>T (p.Ala144=)
c.423G>T (p.Ala141=)
c.414G>T (p.Ala138=)
c.285G>T (p.Ala95=)
n.69+2123C>A
 dbSNP gnomAD v4
17g.8121937C=CA2246160707HES7c.327G= (p.Ala109=)
c.312G= (p.Ala104=)
c.303G= (p.Ala101=)
c.432G= (p.Ala144=)
c.423G= (p.Ala141=)
c.414G= (p.Ala138=)
c.285G= (p.Ala95=)
n.69+2123C=
17g.8121937C>GCA497955508HES7c.327G>C (p.Ala109=)
c.312G>C (p.Ala104=)
c.303G>C (p.Ala101=)
c.432G>C (p.Ala144=)
c.423G>C (p.Ala141=)
c.414G>C (p.Ala138=)
c.285G>C (p.Ala95=)
n.69+2123C>G
17g.8121937C>TCA497955509HES7c.327G>A (p.Ala109=)
c.312G>A (p.Ala104=)
c.303G>A (p.Ala101=)
c.432G>A (p.Ala144=)
c.423G>A (p.Ala141=)
c.414G>A (p.Ala138=)
c.285G>A (p.Ala95=)
n.69+2123C>T
 gnomAD v4
17g.8121938G>ACA397988627HES7c.326C>T (p.Ala109Val)
c.311C>T (p.Ala104Val)
c.302C>T (p.Ala101Val)
c.431C>T (p.Ala144Val)
c.422C>T (p.Ala141Val)
c.413C>T (p.Ala138Val)
c.284C>T (p.Ala95Val)
n.69+2124G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8121938G>CCA397988629HES7c.326C>G (p.Ala109Gly)
c.311C>G (p.Ala104Gly)
c.302C>G (p.Ala101Gly)
c.431C>G (p.Ala144Gly)
c.422C>G (p.Ala141Gly)
c.413C>G (p.Ala138Gly)
c.284C>G (p.Ala95Gly)
n.69+2124G>C
17g.8121938G=CA2246160710HES7c.326C= (p.Ala109=)
c.311C= (p.Ala104=)
c.302C= (p.Ala101=)
c.431C= (p.Ala144=)
c.422C= (p.Ala141=)
c.413C= (p.Ala138=)
c.284C= (p.Ala95=)
n.69+2124G=
17g.8121938G>TCA287537316HES7c.326C>A (p.Ala109Glu)
c.311C>A (p.Ala104Glu)
c.302C>A (p.Ala101Glu)
c.431C>A (p.Ala144Glu)
c.422C>A (p.Ala141Glu)
c.413C>A (p.Ala138Glu)
c.284C>A (p.Ala95Glu)
n.69+2124G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.8121939C>ACA397988632HES7c.325G>T (p.Ala109Ser)
c.310G>T (p.Ala104Ser)
c.301G>T (p.Ala101Ser)
c.430G>T (p.Ala144Ser)
c.421G>T (p.Ala141Ser)
c.412G>T (p.Ala138Ser)
c.283G>T (p.Ala95Ser)
n.69+2125C>A
 gnomAD v4
17g.8121939C>GCA397988635HES7c.325G>C (p.Ala109Pro)
c.310G>C (p.Ala104Pro)
c.301G>C (p.Ala101Pro)
c.430G>C (p.Ala144Pro)
c.421G>C (p.Ala141Pro)
c.412G>C (p.Ala138Pro)
c.283G>C (p.Ala95Pro)
n.69+2125C>G
17g.8121939C>TCA397988633HES7c.325G>A (p.Ala109Thr)
c.310G>A (p.Ala104Thr)
c.301G>A (p.Ala101Thr)
c.430G>A (p.Ala144Thr)
c.421G>A (p.Ala141Thr)
c.412G>A (p.Ala138Thr)
c.283G>A (p.Ala95Thr)
n.69+2125C>T
 gnomAD v4
17g.8121940C>ACA397988637HES7c.324G>T (p.Leu108Phe)
c.309G>T (p.Leu103Phe)
c.300G>T (p.Leu100Phe)
c.429G>T (p.Leu143Phe)
c.420G>T (p.Leu140Phe)
c.411G>T (p.Leu137Phe)
c.282G>T (p.Leu94Phe)
n.69+2126C>A
 gnomAD v4
17g.8121940C=CA2246160736HES7c.324G= (p.Leu108=)
c.309G= (p.Leu103=)
c.300G= (p.Leu100=)
c.429G= (p.Leu143=)
c.420G= (p.Leu140=)
c.411G= (p.Leu137=)
c.282G= (p.Leu94=)
n.69+2126C=
17g.8121940C>GCA397988639HES7c.324G>C (p.Leu108Phe)
c.309G>C (p.Leu103Phe)
c.300G>C (p.Leu100Phe)
c.429G>C (p.Leu143Phe)
c.420G>C (p.Leu140Phe)
c.411G>C (p.Leu137Phe)
c.282G>C (p.Leu94Phe)
n.69+2126C>G
17g.8121940C>TCA497955510HES7c.324G>A (p.Leu108=)
c.309G>A (p.Leu103=)
c.300G>A (p.Leu100=)
c.429G>A (p.Leu143=)
c.420G>A (p.Leu140=)
c.411G>A (p.Leu137=)
c.282G>A (p.Leu94=)
n.69+2126C>T
 dbSNP gnomAD v2 gnomAD v4
17g.8121941A>CCA397988642HES7c.323T>G (p.Leu108Trp)
c.308T>G (p.Leu103Trp)
c.299T>G (p.Leu100Trp)
c.428T>G (p.Leu143Trp)
c.419T>G (p.Leu140Trp)
c.410T>G (p.Leu137Trp)
c.281T>G (p.Leu94Trp)
n.69+2127A>C
17g.8121941A>GCA397988644HES7c.323T>C (p.Leu108Ser)
c.308T>C (p.Leu103Ser)
c.299T>C (p.Leu100Ser)
c.428T>C (p.Leu143Ser)
c.419T>C (p.Leu140Ser)
c.410T>C (p.Leu137Ser)
c.281T>C (p.Leu94Ser)
n.69+2127A>G
17g.8121941A>TCA397988646HES7c.323T>A (p.Leu108Ter)
c.308T>A (p.Leu103Ter)
c.299T>A (p.Leu100Ter)
c.428T>A (p.Leu143Ter)
c.419T>A (p.Leu140Ter)
c.410T>A (p.Leu137Ter)
c.281T>A (p.Leu94Ter)
n.69+2127A>T
17g.8121942A>CCA397988648HES7c.322T>G (p.Leu108Val)
c.307T>G (p.Leu103Val)
c.298T>G (p.Leu100Val)
c.427T>G (p.Leu143Val)
c.418T>G (p.Leu140Val)
c.409T>G (p.Leu137Val)
c.280T>G (p.Leu94Val)
n.69+2128A>C
17g.8121942A>GCA497955511HES7c.322T>C (p.Leu108=)
c.307T>C (p.Leu103=)
c.298T>C (p.Leu100=)
c.427T>C (p.Leu143=)
c.418T>C (p.Leu140=)
c.409T>C (p.Leu137=)
c.280T>C (p.Leu94=)
n.69+2128A>G
 gnomAD v4
17g.8121942A>TCA397988650HES7c.322T>A (p.Leu108Met)
c.307T>A (p.Leu103Met)
c.298T>A (p.Leu100Met)
c.427T>A (p.Leu143Met)
c.418T>A (p.Leu140Met)
c.409T>A (p.Leu137Met)
c.280T>A (p.Leu94Met)
n.69+2128A>T
17g.8121943G>ACA497955512HES7c.321C>T (p.Arg107=)
c.306C>T (p.Arg102=)
c.297C>T (p.Arg99=)
c.426C>T (p.Arg142=)
c.417C>T (p.Arg139=)
c.408C>T (p.Arg136=)
c.279C>T (p.Arg93=)
n.69+2129G>A
 gnomAD v4
17g.8121943G>CCA497955513HES7c.321C>G (p.Arg107=)
c.306C>G (p.Arg102=)
c.297C>G (p.Arg99=)
c.426C>G (p.Arg142=)
c.417C>G (p.Arg139=)
c.408C>G (p.Arg136=)
c.279C>G (p.Arg93=)
n.69+2129G>C
17g.8121943G>TCA497955514HES7c.321C>A (p.Arg107=)
c.306C>A (p.Arg102=)
c.297C>A (p.Arg99=)
c.426C>A (p.Arg142=)
c.417C>A (p.Arg139=)
c.408C>A (p.Arg136=)
c.279C>A (p.Arg93=)
n.69+2129G>T
 gnomAD v4
17g.8121944C>ACA397988651HES7c.320G>T (p.Arg107Leu)
c.305G>T (p.Arg102Leu)
c.296G>T (p.Arg99Leu)
c.425G>T (p.Arg142Leu)
c.416G>T (p.Arg139Leu)
c.407G>T (p.Arg136Leu)
c.278G>T (p.Arg93Leu)
n.69+2130C>A
 gnomAD v4
17g.8121944C=CA2246160743HES7c.320G= (p.Arg107=)
c.305G= (p.Arg102=)
c.296G= (p.Arg99=)
c.425G= (p.Arg142=)
c.416G= (p.Arg139=)
c.407G= (p.Arg136=)
c.278G= (p.Arg93=)
n.69+2130C=
17g.8121944C>GCA397988656HES7c.320G>C (p.Arg107Pro)
c.305G>C (p.Arg102Pro)
c.296G>C (p.Arg99Pro)
c.425G>C (p.Arg142Pro)
c.416G>C (p.Arg139Pro)
c.407G>C (p.Arg136Pro)
c.278G>C (p.Arg93Pro)
n.69+2130C>G
 dbSNP
17g.8121944C>TCA397988657HES7c.320G>A (p.Arg107His)
c.305G>A (p.Arg102His)
c.296G>A (p.Arg99His)
c.425G>A (p.Arg142His)
c.416G>A (p.Arg139His)
c.407G>A (p.Arg136His)
c.278G>A (p.Arg93His)
n.69+2130C>T
 gnomAD v4
17g.8121945G>ACA8368663HES7c.319C>T (p.Arg107Cys)
c.304C>T (p.Arg102Cys)
c.295C>T (p.Arg99Cys)
c.424C>T (p.Arg142Cys)
c.415C>T (p.Arg139Cys)
c.406C>T (p.Arg136Cys)
c.277C>T (p.Arg93Cys)
n.69+2131G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8121945G>CCA397988659HES7c.319C>G (p.Arg107Gly)
c.304C>G (p.Arg102Gly)
c.295C>G (p.Arg99Gly)
c.424C>G (p.Arg142Gly)
c.415C>G (p.Arg139Gly)
c.406C>G (p.Arg136Gly)
c.277C>G (p.Arg93Gly)
n.69+2131G>C
17g.8121945G=CA2246160747HES7c.319C= (p.Arg107=)
c.304C= (p.Arg102=)
c.295C= (p.Arg99=)
c.424C= (p.Arg142=)
c.415C= (p.Arg139=)
c.406C= (p.Arg136=)
c.277C= (p.Arg93=)
n.69+2131G=
17g.8121945G>TCA397988661HES7c.319C>A (p.Arg107Ser)
c.304C>A (p.Arg102Ser)
c.295C>A (p.Arg99Ser)
c.424C>A (p.Arg142Ser)
c.415C>A (p.Arg139Ser)
c.406C>A (p.Arg136Ser)
c.277C>A (p.Arg93Ser)
n.69+2131G>T
 gnomAD v4
17g.8121946A>CCA497955515HES7c.318T>G (p.Leu106=)
c.303T>G (p.Leu101=)
c.294T>G (p.Leu98=)
c.423T>G (p.Leu141=)
c.414T>G (p.Leu138=)
c.405T>G (p.Leu135=)
c.276T>G (p.Leu92=)
n.69+2132A>C
17g.8121946A>GCA497955516HES7c.318T>C (p.Leu106=)
c.303T>C (p.Leu101=)
c.294T>C (p.Leu98=)
c.423T>C (p.Leu141=)
c.414T>C (p.Leu138=)
c.405T>C (p.Leu135=)
c.276T>C (p.Leu92=)
n.69+2132A>G
 gnomAD v4
17g.8121946A>TCA497955517HES7c.318T>A (p.Leu106=)
c.303T>A (p.Leu101=)
c.294T>A (p.Leu98=)
c.423T>A (p.Leu141=)
c.414T>A (p.Leu138=)
c.405T>A (p.Leu135=)
c.276T>A (p.Leu92=)
n.69+2132A>T
17g.8121947A>CCA397988663HES7c.317T>G (p.Leu106Arg)
c.302T>G (p.Leu101Arg)
c.293T>G (p.Leu98Arg)
c.422T>G (p.Leu141Arg)
c.413T>G (p.Leu138Arg)
c.404T>G (p.Leu135Arg)
c.275T>G (p.Leu92Arg)
n.69+2133A>C
17g.8121947A>GCA397988667HES7c.317T>C (p.Leu106Pro)
c.302T>C (p.Leu101Pro)
c.293T>C (p.Leu98Pro)
c.422T>C (p.Leu141Pro)
c.413T>C (p.Leu138Pro)
c.404T>C (p.Leu135Pro)
c.275T>C (p.Leu92Pro)
n.69+2133A>G
 gnomAD v4
17g.8121947A>TCA397988665HES7c.317T>A (p.Leu106His)
c.302T>A (p.Leu101His)
c.293T>A (p.Leu98His)
c.422T>A (p.Leu141His)
c.413T>A (p.Leu138His)
c.404T>A (p.Leu135His)
c.275T>A (p.Leu92His)
n.69+2133A>T
 gnomAD v4
17g.8121948G>ACA397988670HES7c.316C>T (p.Leu106Phe)
c.301C>T (p.Leu101Phe)
c.292C>T (p.Leu98Phe)
c.421C>T (p.Leu141Phe)
c.412C>T (p.Leu138Phe)
c.403C>T (p.Leu135Phe)
c.274C>T (p.Leu92Phe)
n.69+2134G>A
 gnomAD v4
17g.8121948G>CCA397988671HES7c.316C>G (p.Leu106Val)
c.301C>G (p.Leu101Val)
c.292C>G (p.Leu98Val)
c.421C>G (p.Leu141Val)
c.412C>G (p.Leu138Val)
c.403C>G (p.Leu135Val)
c.274C>G (p.Leu92Val)
n.69+2134G>C
17g.8121948G>TCA397988673HES7c.316C>A (p.Leu106Ile)
c.301C>A (p.Leu101Ile)
c.292C>A (p.Leu98Ile)
c.421C>A (p.Leu141Ile)
c.412C>A (p.Leu138Ile)
c.403C>A (p.Leu135Ile)
c.274C>A (p.Leu92Ile)
n.69+2134G>T
 gnomAD v4
17g.8121949C>ACA497955260HES7c.315G>T (p.Leu105=)
c.300G>T (p.Leu100=)
c.291G>T (p.Leu97=)
c.420G>T (p.Leu140=)
c.411G>T (p.Leu137=)
c.402G>T (p.Leu134=)
c.273G>T (p.Leu91=)
n.69+2135C>A
 gnomAD v4
17g.8121949C>GCA497955262HES7c.315G>C (p.Leu105=)
c.300G>C (p.Leu100=)
c.291G>C (p.Leu97=)
c.420G>C (p.Leu140=)
c.411G>C (p.Leu137=)
c.402G>C (p.Leu134=)
c.273G>C (p.Leu91=)
n.69+2135C>G
 gnomAD v4
17g.8121949C>TCA497955263HES7c.315G>A (p.Leu105=)
c.300G>A (p.Leu100=)
c.291G>A (p.Leu97=)
c.420G>A (p.Leu140=)
c.411G>A (p.Leu137=)
c.402G>A (p.Leu134=)
c.273G>A (p.Leu91=)
n.69+2135C>T
 gnomAD v4
17g.8121950A=CA2246160752HES7c.314T= (p.Leu105=)
c.299T= (p.Leu100=)
c.290T= (p.Leu97=)
c.419T= (p.Leu140=)
c.410T= (p.Leu137=)
c.401T= (p.Leu134=)
c.272T= (p.Leu91=)
n.69+2136A=
17g.8121950A>CCA397988677HES7c.314T>G (p.Leu105Arg)
c.299T>G (p.Leu100Arg)
c.290T>G (p.Leu97Arg)
c.419T>G (p.Leu140Arg)
c.410T>G (p.Leu137Arg)
c.401T>G (p.Leu134Arg)
c.272T>G (p.Leu91Arg)
n.69+2136A>C
17g.8121950A>GCA397988680HES7c.314T>C (p.Leu105Pro)
c.299T>C (p.Leu100Pro)
c.290T>C (p.Leu97Pro)
c.419T>C (p.Leu140Pro)
c.410T>C (p.Leu137Pro)
c.401T>C (p.Leu134Pro)
c.272T>C (p.Leu91Pro)
n.69+2136A>G
 dbSNP gnomAD v4
17g.8121950A>TCA397988682HES7c.314T>A (p.Leu105Gln)
c.299T>A (p.Leu100Gln)
c.290T>A (p.Leu97Gln)
c.419T>A (p.Leu140Gln)
c.410T>A (p.Leu137Gln)
c.401T>A (p.Leu134Gln)
c.272T>A (p.Leu91Gln)
n.69+2136A>T
 gnomAD v4
17g.8121951G>ACA497955266HES7c.313C>T (p.Leu105=)
c.298C>T (p.Leu100=)
c.289C>T (p.Leu97=)
c.418C>T (p.Leu140=)
c.409C>T (p.Leu137=)
c.400C>T (p.Leu134=)
c.271C>T (p.Leu91=)
n.69+2137G>A
 dbSNP gnomAD v3 gnomAD v4
17g.8121951G>CCA397988684HES7c.313C>G (p.Leu105Val)
c.298C>G (p.Leu100Val)
c.289C>G (p.Leu97Val)
c.418C>G (p.Leu140Val)
c.409C>G (p.Leu137Val)
c.400C>G (p.Leu134Val)
c.271C>G (p.Leu91Val)
n.69+2137G>C
 gnomAD v4
17g.8121951G=CA2246160757HES7c.313C= (p.Leu105=)
c.298C= (p.Leu100=)
c.289C= (p.Leu97=)
c.418C= (p.Leu140=)
c.409C= (p.Leu137=)
c.400C= (p.Leu134=)
c.271C= (p.Leu91=)
n.69+2137G=
17g.8121951G>TCA397988686HES7c.313C>A (p.Leu105Met)
c.298C>A (p.Leu100Met)
c.289C>A (p.Leu97Met)
c.418C>A (p.Leu140Met)
c.409C>A (p.Leu137Met)
c.400C>A (p.Leu134Met)
c.271C>A (p.Leu91Met)
n.69+2137G>T
 gnomAD v4
17g.8121952G>ACA497955267HES7c.312C>T (p.Cys104=)
c.297C>T (p.Cys99=)
c.288C>T (p.Cys96=)
c.417C>T (p.Cys139=)
c.408C>T (p.Cys136=)
c.399C>T (p.Cys133=)
c.270C>T (p.Cys90=)
n.69+2138G>A
 gnomAD v4
17g.8121952G>CCA397988688HES7c.312C>G (p.Cys104Trp)
c.297C>G (p.Cys99Trp)
c.288C>G (p.Cys96Trp)
c.417C>G (p.Cys139Trp)
c.408C>G (p.Cys136Trp)
c.399C>G (p.Cys133Trp)
c.270C>G (p.Cys90Trp)
n.69+2138G>C
17g.8121952G=CA2246160763HES7c.312C= (p.Cys104=)
c.297C= (p.Cys99=)
c.288C= (p.Cys96=)
c.417C= (p.Cys139=)
c.408C= (p.Cys136=)
c.399C= (p.Cys133=)
c.270C= (p.Cys90=)
n.69+2138G=
17g.8121952G>TCA397988689HES7c.312C>A (p.Cys104Ter)
c.297C>A (p.Cys99Ter)
c.288C>A (p.Cys96Ter)
c.417C>A (p.Cys139Ter)
c.408C>A (p.Cys136Ter)
c.399C>A (p.Cys133Ter)
c.270C>A (p.Cys90Ter)
n.69+2138G>T
 dbSNP gnomAD v4
17g.8121953C>ACA397988694HES7c.311G>T (p.Cys104Phe)
c.296G>T (p.Cys99Phe)
c.287G>T (p.Cys96Phe)
c.416G>T (p.Cys139Phe)
c.407G>T (p.Cys136Phe)
c.398G>T (p.Cys133Phe)
c.269G>T (p.Cys90Phe)
n.69+2139C>A
 gnomAD v4
17g.8121953C>GCA397988692HES7c.311G>C (p.Cys104Ser)
c.296G>C (p.Cys99Ser)
c.287G>C (p.Cys96Ser)
c.416G>C (p.Cys139Ser)
c.407G>C (p.Cys136Ser)
c.398G>C (p.Cys133Ser)
c.269G>C (p.Cys90Ser)
n.69+2139C>G
17g.8121953C>TCA397988690HES7c.311G>A (p.Cys104Tyr)
c.296G>A (p.Cys99Tyr)
c.287G>A (p.Cys96Tyr)
c.416G>A (p.Cys139Tyr)
c.407G>A (p.Cys136Tyr)
c.398G>A (p.Cys133Tyr)
c.269G>A (p.Cys90Tyr)
n.69+2139C>T
 gnomAD v4
17g.8121954A>CCA397988700HES7c.310T>G (p.Cys104Gly)
c.295T>G (p.Cys99Gly)
c.286T>G (p.Cys96Gly)
c.415T>G (p.Cys139Gly)
c.406T>G (p.Cys136Gly)
c.397T>G (p.Cys133Gly)
c.268T>G (p.Cys90Gly)
n.69+2140A>C
17g.8121954A>GCA397988696HES7c.310T>C (p.Cys104Arg)
c.295T>C (p.Cys99Arg)
c.286T>C (p.Cys96Arg)
c.415T>C (p.Cys139Arg)
c.406T>C (p.Cys136Arg)
c.397T>C (p.Cys133Arg)
c.268T>C (p.Cys90Arg)
n.69+2140A>G
17g.8121954A>TCA397988698HES7c.310T>A (p.Cys104Ser)
c.295T>A (p.Cys99Ser)
c.286T>A (p.Cys96Ser)
c.415T>A (p.Cys139Ser)
c.406T>A (p.Cys136Ser)
c.397T>A (p.Cys133Ser)
c.268T>A (p.Cys90Ser)
n.69+2140A>T
17g.8121955C>ACA8368664HES7c.309G>T (p.Glu103Asp)
c.294G>T (p.Glu98Asp)
c.285G>T (p.Glu95Asp)
c.414G>T (p.Glu138Asp)
c.405G>T (p.Glu135Asp)
c.396G>T (p.Glu132Asp)
c.267G>T (p.Glu89Asp)
n.69+2141C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8121955C=CA2246160771HES7c.309G= (p.Glu103=)
c.294G= (p.Glu98=)
c.285G= (p.Glu95=)
c.414G= (p.Glu138=)
c.405G= (p.Glu135=)
c.396G= (p.Glu132=)
c.267G= (p.Glu89=)
n.69+2141C=
17g.8121955C>GCA397988703HES7c.309G>C (p.Glu103Asp)
c.294G>C (p.Glu98Asp)
c.285G>C (p.Glu95Asp)
c.414G>C (p.Glu138Asp)
c.405G>C (p.Glu135Asp)
c.396G>C (p.Glu132Asp)
c.267G>C (p.Glu89Asp)
n.69+2141C>G
17g.8121955C>TCA497955280HES7c.309G>A (p.Glu103=)
c.294G>A (p.Glu98=)
c.285G>A (p.Glu95=)
c.414G>A (p.Glu138=)
c.405G>A (p.Glu135=)
c.396G>A (p.Glu132=)
c.267G>A (p.Glu89=)
n.69+2141C>T
 gnomAD v4
17g.8121956T>ACA397988704HES7c.308A>T (p.Glu103Val)
c.293A>T (p.Glu98Val)
c.284A>T (p.Glu95Val)
c.413A>T (p.Glu138Val)
c.404A>T (p.Glu135Val)
c.395A>T (p.Glu132Val)
c.266A>T (p.Glu89Val)
n.69+2142T>A
17g.8121956T>CCA397988706HES7c.308A>G (p.Glu103Gly)
c.293A>G (p.Glu98Gly)
c.284A>G (p.Glu95Gly)
c.413A>G (p.Glu138Gly)
c.404A>G (p.Glu135Gly)
c.395A>G (p.Glu132Gly)
c.266A>G (p.Glu89Gly)
n.69+2142T>C
17g.8121956T>GCA397988708HES7c.308A>C (p.Glu103Ala)
c.293A>C (p.Glu98Ala)
c.284A>C (p.Glu95Ala)
c.413A>C (p.Glu138Ala)
c.404A>C (p.Glu135Ala)
c.395A>C (p.Glu132Ala)
c.266A>C (p.Glu89Ala)
n.69+2142T>G
17g.8121957C>ACA397988710HES7c.307G>T (p.Glu103Ter)
c.292G>T (p.Glu98Ter)
c.283G>T (p.Glu95Ter)
c.412G>T (p.Glu138Ter)
c.403G>T (p.Glu135Ter)
c.394G>T (p.Glu132Ter)
c.265G>T (p.Glu89Ter)
n.69+2143C>A
 gnomAD v4
17g.8121957C>GCA397988713HES7c.307G>C (p.Glu103Gln)
c.292G>C (p.Glu98Gln)
c.283G>C (p.Glu95Gln)
c.412G>C (p.Glu138Gln)
c.403G>C (p.Glu135Gln)
c.394G>C (p.Glu132Gln)
c.265G>C (p.Glu89Gln)
n.69+2143C>G
 gnomAD v4
17g.8121957C>TCA397988712HES7c.307G>A (p.Glu103Lys)
c.292G>A (p.Glu98Lys)
c.283G>A (p.Glu95Lys)
c.412G>A (p.Glu138Lys)
c.403G>A (p.Glu135Lys)
c.394G>A (p.Glu132Lys)
c.265G>A (p.Glu89Lys)
n.69+2143C>T
 gnomAD v4 COSMIC
17g.8121958G>ACA497955285HES7c.306C>T (p.Arg102=)
c.291C>T (p.Arg97=)
c.282C>T (p.Arg94=)
c.411C>T (p.Arg137=)
c.402C>T (p.Arg134=)
c.393C>T (p.Arg131=)
c.264C>T (p.Arg88=)
n.69+2144G>A
17g.8121958G>CCA497955286HES7c.306C>G (p.Arg102=)
c.291C>G (p.Arg97=)
c.282C>G (p.Arg94=)
c.411C>G (p.Arg137=)
c.402C>G (p.Arg134=)
c.393C>G (p.Arg131=)
c.264C>G (p.Arg88=)
n.69+2144G>C
17g.8121958G=CA2246160777HES7c.306C= (p.Arg102=)
c.291C= (p.Arg97=)
c.282C= (p.Arg94=)
c.411C= (p.Arg137=)
c.402C= (p.Arg134=)
c.393C= (p.Arg131=)
c.264C= (p.Arg88=)
n.69+2144G=
17g.8121958G>TCA8368665HES7c.306C>A (p.Arg102=)
c.291C>A (p.Arg97=)
c.282C>A (p.Arg94=)
c.411C>A (p.Arg137=)
c.402C>A (p.Arg134=)
c.393C>A (p.Arg131=)
c.264C>A (p.Arg88=)
n.69+2144G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8121959C>ACA397988718HES7c.305G>T (p.Arg102Leu)
c.290G>T (p.Arg97Leu)
c.281G>T (p.Arg94Leu)
c.410G>T (p.Arg137Leu)
c.401G>T (p.Arg134Leu)
c.392G>T (p.Arg131Leu)
c.263G>T (p.Arg88Leu)
n.69+2145C>A
 gnomAD v4
17g.8121959C=CA2246160780HES7c.305G= (p.Arg102=)
c.290G= (p.Arg97=)
c.281G= (p.Arg94=)
c.410G= (p.Arg137=)
c.401G= (p.Arg134=)
c.392G= (p.Arg131=)
c.263G= (p.Arg88=)
n.69+2145C=
17g.8121959C>GCA397988720HES7c.305G>C (p.Arg102Pro)
c.290G>C (p.Arg97Pro)
c.281G>C (p.Arg94Pro)
c.410G>C (p.Arg137Pro)
c.401G>C (p.Arg134Pro)
c.392G>C (p.Arg131Pro)
c.263G>C (p.Arg88Pro)
n.69+2145C>G
 gnomAD v4
17g.8121959C>TCA397988723HES7c.305G>A (p.Arg102His)
c.290G>A (p.Arg97His)
c.281G>A (p.Arg94His)
c.410G>A (p.Arg137His)
c.401G>A (p.Arg134His)
c.392G>A (p.Arg131His)
c.263G>A (p.Arg88His)
n.69+2145C>T
 dbSNP gnomAD v3 gnomAD v4
17g.8121960G>ACA397988726HES7c.304C>T (p.Arg102Cys)
c.289C>T (p.Arg97Cys)
c.280C>T (p.Arg94Cys)
c.409C>T (p.Arg137Cys)
c.400C>T (p.Arg134Cys)
c.391C>T (p.Arg131Cys)
c.262C>T (p.Arg88Cys)
n.69+2146G>A
 dbSNP gnomAD v2 gnomAD v4
17g.8121960G>CCA397988735HES7c.304C>G (p.Arg102Gly)
c.289C>G (p.Arg97Gly)
c.280C>G (p.Arg94Gly)
c.409C>G (p.Arg137Gly)
c.400C>G (p.Arg134Gly)
c.391C>G (p.Arg131Gly)
c.262C>G (p.Arg88Gly)
n.69+2146G>C
17g.8121960G=CA2246160783HES7c.304C= (p.Arg102=)
c.289C= (p.Arg97=)
c.280C= (p.Arg94=)
c.409C= (p.Arg137=)
c.400C= (p.Arg134=)
c.391C= (p.Arg131=)
c.262C= (p.Arg88=)
n.69+2146G=
17g.8121960G>TCA397988733HES7c.304C>A (p.Arg102Ser)
c.289C>A (p.Arg97Ser)
c.280C>A (p.Arg94Ser)
c.409C>A (p.Arg137Ser)
c.400C>A (p.Arg134Ser)
c.391C>A (p.Arg131Ser)
c.262C>A (p.Arg88Ser)
n.69+2146G>T
 gnomAD v4
17g.8121961G>ACA497955289HES7c.303C>T (p.Phe101=)
c.288C>T (p.Phe96=)
c.279C>T (p.Phe93=)
c.408C>T (p.Phe136=)
c.399C>T (p.Phe133=)
c.390C>T (p.Phe130=)
c.261C>T (p.Phe87=)
n.69+2147G>A
 gnomAD v4
17g.8121961G>CCA397988737HES7c.303C>G (p.Phe101Leu)
c.288C>G (p.Phe96Leu)
c.279C>G (p.Phe93Leu)
c.408C>G (p.Phe136Leu)
c.399C>G (p.Phe133Leu)
c.390C>G (p.Phe130Leu)
c.261C>G (p.Phe87Leu)
n.69+2147G>C
17g.8121961G>TCA397988738HES7c.303C>A (p.Phe101Leu)
c.288C>A (p.Phe96Leu)
c.279C>A (p.Phe93Leu)
c.408C>A (p.Phe136Leu)
c.399C>A (p.Phe133Leu)
c.390C>A (p.Phe130Leu)
c.261C>A (p.Phe87Leu)
n.69+2147G>T
17g.8121962A=CA2246160787HES7c.302T= (p.Phe101=)
c.287T= (p.Phe96=)
c.278T= (p.Phe93=)
c.407T= (p.Phe136=)
c.398T= (p.Phe133=)
c.389T= (p.Phe130=)
c.260T= (p.Phe87=)
n.69+2148A=
17g.8121962A>CCA397988741HES7c.302T>G (p.Phe101Cys)
c.287T>G (p.Phe96Cys)
c.278T>G (p.Phe93Cys)
c.407T>G (p.Phe136Cys)
c.398T>G (p.Phe133Cys)
c.389T>G (p.Phe130Cys)
c.260T>G (p.Phe87Cys)
n.69+2148A>C
17g.8121962A>GCA397988742HES7c.302T>C (p.Phe101Ser)
c.287T>C (p.Phe96Ser)
c.278T>C (p.Phe93Ser)
c.407T>C (p.Phe136Ser)
c.398T>C (p.Phe133Ser)
c.389T>C (p.Phe130Ser)
c.260T>C (p.Phe87Ser)
n.69+2148A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8121962A>TCA397988744HES7c.302T>A (p.Phe101Tyr)
c.287T>A (p.Phe96Tyr)
c.278T>A (p.Phe93Tyr)
c.407T>A (p.Phe136Tyr)
c.398T>A (p.Phe133Tyr)
c.389T>A (p.Phe130Tyr)
c.260T>A (p.Phe87Tyr)
n.69+2148A>T
17g.8121963A>CCA397988747HES7c.301T>G (p.Phe101Val)
c.286T>G (p.Phe96Val)
c.277T>G (p.Phe93Val)
c.406T>G (p.Phe136Val)
c.397T>G (p.Phe133Val)
c.388T>G (p.Phe130Val)
c.259T>G (p.Phe87Val)
n.69+2149A>C
17g.8121963A>GCA397988750HES7c.301T>C (p.Phe101Leu)
c.286T>C (p.Phe96Leu)
c.277T>C (p.Phe93Leu)
c.406T>C (p.Phe136Leu)
c.397T>C (p.Phe133Leu)
c.388T>C (p.Phe130Leu)
c.259T>C (p.Phe87Leu)
n.69+2149A>G
17g.8121963A>TCA397988752HES7c.301T>A (p.Phe101Ile)
c.286T>A (p.Phe96Ile)
c.277T>A (p.Phe93Ile)
c.406T>A (p.Phe136Ile)
c.397T>A (p.Phe133Ile)
c.388T>A (p.Phe130Ile)
c.259T>A (p.Phe87Ile)
n.69+2149A>T
17g.8121964A>CCA497955299HES7c.300T>G (p.Gly100=)
c.285T>G (p.Gly95=)
c.276T>G (p.Gly92=)
c.405T>G (p.Gly135=)
c.396T>G (p.Gly132=)
c.387T>G (p.Gly129=)
c.258T>G (p.Gly86=)
n.69+2150A>C
17g.8121964A>GCA497955303HES7c.300T>C (p.Gly100=)
c.285T>C (p.Gly95=)
c.276T>C (p.Gly92=)
c.405T>C (p.Gly135=)
c.396T>C (p.Gly132=)
c.387T>C (p.Gly129=)
c.258T>C (p.Gly86=)
n.69+2150A>G
17g.8121964A>TCA497955300HES7c.300T>A (p.Gly100=)
c.285T>A (p.Gly95=)
c.276T>A (p.Gly92=)
c.405T>A (p.Gly135=)
c.396T>A (p.Gly132=)
c.387T>A (p.Gly129=)
c.258T>A (p.Gly86=)
n.69+2150A>T
17g.8121964_8121965delinsACCA2246160790HES7c.299_300delinsGT (p.Gly100=)
c.284_285delinsGT (p.Gly95=)
c.275_276delinsGT (p.Gly92=)
c.404_405delinsGT (p.Gly135=)
c.395_396delinsGT (p.Gly132=)
c.386_387delinsGT (p.Gly129=)
c.257_258delinsGT (p.Gly86=)
n.69+2150_69+2151delinsAC
17g.8121965C>ACA397988754HES7c.299G>T (p.Gly100Val)
c.284G>T (p.Gly95Val)
c.275G>T (p.Gly92Val)
c.404G>T (p.Gly135Val)
c.395G>T (p.Gly132Val)
c.386G>T (p.Gly129Val)
c.257G>T (p.Gly86Val)
n.69+2151C>A
17g.8121965C>GCA397988756HES7c.299G>C (p.Gly100Ala)
c.284G>C (p.Gly95Ala)
c.275G>C (p.Gly92Ala)
c.404G>C (p.Gly135Ala)
c.395G>C (p.Gly132Ala)
c.386G>C (p.Gly129Ala)
c.257G>C (p.Gly86Ala)
n.69+2151C>G
17g.8121965C>TCA397988759HES7c.299G>A (p.Gly100Asp)
c.284G>A (p.Gly95Asp)
c.275G>A (p.Gly92Asp)
c.404G>A (p.Gly135Asp)
c.395G>A (p.Gly132Asp)
c.386G>A (p.Gly129Asp)
c.257G>A (p.Gly86Asp)
n.69+2151C>T
 gnomAD v4
17g.8121966delCA624868619HES7c.299del (p.Gly100ValfsTer?)
c.284del (p.Gly95ValfsTer?)
c.275del (p.Gly92ValfsTer?)
c.404del (p.Gly135ValfsTer?)
c.395del (p.Gly132ValfsTer?)
c.386del (p.Gly129ValfsTer?)
c.257del (p.Gly86ValfsTer?)
n.69+2152del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8121966C>ACA397988764HES7c.298G>T (p.Gly100Cys)
c.283G>T (p.Gly95Cys)
c.274G>T (p.Gly92Cys)
c.403G>T (p.Gly135Cys)
c.394G>T (p.Gly132Cys)
c.385G>T (p.Gly129Cys)
c.256G>T (p.Gly86Cys)
n.69+2152C>A
 dbSNP gnomAD v2 gnomAD v4
17g.8121966C=CA2246160793HES7c.298G= (p.Gly100=)
c.283G= (p.Gly95=)
c.274G= (p.Gly92=)
c.403G= (p.Gly135=)
c.394G= (p.Gly132=)
c.385G= (p.Gly129=)
c.256G= (p.Gly86=)
n.69+2152C=
17g.8121966C>GCA397988767HES7c.298G>C (p.Gly100Arg)
c.283G>C (p.Gly95Arg)
c.274G>C (p.Gly92Arg)
c.403G>C (p.Gly135Arg)
c.394G>C (p.Gly132Arg)
c.385G>C (p.Gly129Arg)
c.256G>C (p.Gly86Arg)
n.69+2152C>G
17g.8121966C>TCA397988763HES7c.298G>A (p.Gly100Ser)
c.283G>A (p.Gly95Ser)
c.274G>A (p.Gly92Ser)
c.403G>A (p.Gly135Ser)
c.394G>A (p.Gly132Ser)
c.385G>A (p.Gly129Ser)
c.256G>A (p.Gly86Ser)
n.69+2152C>T
 gnomAD v4 COSMIC
17g.8121967G>ACA497955308HES7c.297C>T (p.Ser99=)
c.282C>T (p.Ser94=)
c.273C>T (p.Ser91=)
c.402C>T (p.Ser134=)
c.393C>T (p.Ser131=)
c.384C>T (p.Ser128=)
c.255C>T (p.Ser85=)
n.69+2153G>A
 dbSNP gnomAD v4
17g.8121967G>CCA287537334HES7c.297C>G (p.Ser99=)
c.282C>G (p.Ser94=)
c.273C>G (p.Ser91=)
c.402C>G (p.Ser134=)
c.393C>G (p.Ser131=)
c.384C>G (p.Ser128=)
c.255C>G (p.Ser85=)
n.69+2153G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8121967G=CA2246160796HES7c.297C= (p.Ser99=)
c.282C= (p.Ser94=)
c.273C= (p.Ser91=)
c.402C= (p.Ser134=)
c.393C= (p.Ser131=)
c.384C= (p.Ser128=)
c.255C= (p.Ser85=)
n.69+2153G=
17g.8121967G>TCA497955311HES7c.297C>A (p.Ser99=)
c.282C>A (p.Ser94=)
c.273C>A (p.Ser91=)
c.402C>A (p.Ser134=)
c.393C>A (p.Ser131=)
c.384C>A (p.Ser128=)
c.255C>A (p.Ser85=)
n.69+2153G>T
17g.8121968G>ACA8368666HES7c.296C>T (p.Ser99Phe)
c.281C>T (p.Ser94Phe)
c.272C>T (p.Ser91Phe)
c.401C>T (p.Ser134Phe)
c.392C>T (p.Ser131Phe)
c.383C>T (p.Ser128Phe)
c.254C>T (p.Ser85Phe)
n.69+2154G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8121968G>CCA397988775HES7c.296C>G (p.Ser99Cys)
c.281C>G (p.Ser94Cys)
c.272C>G (p.Ser91Cys)
c.401C>G (p.Ser134Cys)
c.392C>G (p.Ser131Cys)
c.383C>G (p.Ser128Cys)
c.254C>G (p.Ser85Cys)
n.69+2154G>C
17g.8121968G=CA2246160801HES7c.296C= (p.Ser99=)
c.281C= (p.Ser94=)
c.272C= (p.Ser91=)
c.401C= (p.Ser134=)
c.392C= (p.Ser131=)
c.383C= (p.Ser128=)
c.254C= (p.Ser85=)
n.69+2154G=
17g.8121968G>TCA397988773HES7c.296C>A (p.Ser99Tyr)
c.281C>A (p.Ser94Tyr)
c.272C>A (p.Ser91Tyr)
c.401C>A (p.Ser134Tyr)
c.392C>A (p.Ser131Tyr)
c.383C>A (p.Ser128Tyr)
c.254C>A (p.Ser85Tyr)
n.69+2154G>T
 gnomAD v4
17g.8121969A>CCA397988777HES7c.295T>G (p.Ser99Ala)
c.280T>G (p.Ser94Ala)
c.271T>G (p.Ser91Ala)
c.400T>G (p.Ser134Ala)
c.391T>G (p.Ser131Ala)
c.382T>G (p.Ser128Ala)
c.253T>G (p.Ser85Ala)
n.69+2155A>C
17g.8121969A>GCA397988780HES7c.295T>C (p.Ser99Pro)
c.280T>C (p.Ser94Pro)
c.271T>C (p.Ser91Pro)
c.400T>C (p.Ser134Pro)
c.391T>C (p.Ser131Pro)
c.382T>C (p.Ser128Pro)
c.253T>C (p.Ser85Pro)
n.69+2155A>G
 gnomAD v4
17g.8121969A>TCA397988783HES7c.295T>A (p.Ser99Thr)
c.280T>A (p.Ser94Thr)
c.271T>A (p.Ser91Thr)
c.400T>A (p.Ser134Thr)
c.391T>A (p.Ser131Thr)
c.382T>A (p.Ser128Thr)
c.253T>A (p.Ser85Thr)
n.69+2155A>T
17g.8121970C>ACA397988786HES7c.294G>T (p.Leu98Phe)
c.279G>T (p.Leu93Phe)
c.270G>T (p.Leu90Phe)
c.399G>T (p.Leu133Phe)
c.390G>T (p.Leu130Phe)
c.381G>T (p.Leu127Phe)
c.252G>T (p.Leu84Phe)
n.69+2156C>A
 gnomAD v4
17g.8121970C=CA2246160804HES7c.294G= (p.Leu98=)
c.279G= (p.Leu93=)
c.270G= (p.Leu90=)
c.399G= (p.Leu133=)
c.390G= (p.Leu130=)
c.381G= (p.Leu127=)
c.252G= (p.Leu84=)
n.69+2156C=
17g.8121970C>GCA397988789HES7c.294G>C (p.Leu98Phe)
c.279G>C (p.Leu93Phe)
c.270G>C (p.Leu90Phe)
c.399G>C (p.Leu133Phe)
c.390G>C (p.Leu130Phe)
c.381G>C (p.Leu127Phe)
c.252G>C (p.Leu84Phe)
n.69+2156C>G
17g.8121970C>TCA497955321HES7c.294G>A (p.Leu98=)
c.279G>A (p.Leu93=)
c.270G>A (p.Leu90=)
c.399G>A (p.Leu133=)
c.390G>A (p.Leu130=)
c.381G>A (p.Leu127=)
c.252G>A (p.Leu84=)
n.69+2156C>T
 dbSNP gnomAD v2 gnomAD v4
17g.8121971A=CA2246160807HES7c.293T= (p.Leu98=)
c.278T= (p.Leu93=)
c.269T= (p.Leu90=)
c.398T= (p.Leu133=)
c.389T= (p.Leu130=)
c.380T= (p.Leu127=)
c.251T= (p.Leu84=)
n.69+2157A=
17g.8121971A>CCA397988793HES7c.293T>G (p.Leu98Trp)
c.278T>G (p.Leu93Trp)
c.269T>G (p.Leu90Trp)
c.398T>G (p.Leu133Trp)
c.389T>G (p.Leu130Trp)
c.380T>G (p.Leu127Trp)
c.251T>G (p.Leu84Trp)
n.69+2157A>C
17g.8121971A>GCA8368667HES7c.293T>C (p.Leu98Ser)
c.278T>C (p.Leu93Ser)
c.269T>C (p.Leu90Ser)
c.398T>C (p.Leu133Ser)
c.389T>C (p.Leu130Ser)
c.380T>C (p.Leu127Ser)
c.251T>C (p.Leu84Ser)
n.69+2157A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8121971A>TCA397988797HES7c.293T>A (p.Leu98Ter)
c.278T>A (p.Leu93Ter)
c.269T>A (p.Leu90Ter)
c.398T>A (p.Leu133Ter)
c.389T>A (p.Leu130Ter)
c.380T>A (p.Leu127Ter)
c.251T>A (p.Leu84Ter)
n.69+2157A>T
17g.8121972delCA2635938457HES7c.293del (p.Leu98CysfsTer?)
c.278del (p.Leu93CysfsTer?)
c.269del (p.Leu90CysfsTer?)
c.398del (p.Leu133CysfsTer?)
c.389del (p.Leu130CysfsTer?)
c.380del (p.Leu127CysfsTer?)
c.251del (p.Leu84CysfsTer?)
n.69+2158del
 gnomAD v4
17g.8121972A>CCA397988800HES7c.292T>G (p.Leu98Val)
c.277T>G (p.Leu93Val)
c.268T>G (p.Leu90Val)
c.397T>G (p.Leu133Val)
c.388T>G (p.Leu130Val)
c.379T>G (p.Leu127Val)
c.250T>G (p.Leu84Val)
n.69+2158A>C
17g.8121972A>GCA497955322HES7c.292T>C (p.Leu98=)
c.277T>C (p.Leu93=)
c.268T>C (p.Leu90=)
c.397T>C (p.Leu133=)
c.388T>C (p.Leu130=)
c.379T>C (p.Leu127=)
c.250T>C (p.Leu84=)
n.69+2158A>G
 gnomAD v4
17g.8121972A>TCA397988802HES7c.292T>A (p.Leu98Met)
c.277T>A (p.Leu93Met)
c.268T>A (p.Leu90Met)
c.397T>A (p.Leu133Met)
c.388T>A (p.Leu130Met)
c.379T>A (p.Leu127Met)
c.250T>A (p.Leu84Met)
n.69+2158A>T
17g.8121973G>ACA497955326HES7c.291C>T (p.Tyr97=)
c.276C>T (p.Tyr92=)
c.267C>T (p.Tyr89=)
c.396C>T (p.Tyr132=)
c.387C>T (p.Tyr129=)
c.378C>T (p.Tyr126=)
c.249C>T (p.Tyr83=)
n.69+2159G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8121973G>CCA397988805HES7c.291C>G (p.Tyr97Ter)
c.276C>G (p.Tyr92Ter)
c.267C>G (p.Tyr89Ter)
c.396C>G (p.Tyr132Ter)
c.387C>G (p.Tyr129Ter)
c.378C>G (p.Tyr126Ter)
c.249C>G (p.Tyr83Ter)
n.69+2159G>C
17g.8121973G=CA2246160815HES7c.291C= (p.Tyr97=)
c.276C= (p.Tyr92=)
c.267C= (p.Tyr89=)
c.396C= (p.Tyr132=)
c.387C= (p.Tyr129=)
c.378C= (p.Tyr126=)
c.249C= (p.Tyr83=)
n.69+2159G=
17g.8121973G>TCA397988808HES7c.291C>A (p.Tyr97Ter)
c.276C>A (p.Tyr92Ter)
c.267C>A (p.Tyr89Ter)
c.396C>A (p.Tyr132Ter)
c.387C>A (p.Tyr129Ter)
c.378C>A (p.Tyr126Ter)
c.249C>A (p.Tyr83Ter)
n.69+2159G>T
17g.8121974T>ACA397988818HES7c.290A>T (p.Tyr97Phe)
c.275A>T (p.Tyr92Phe)
c.266A>T (p.Tyr89Phe)
c.395A>T (p.Tyr132Phe)
c.386A>T (p.Tyr129Phe)
c.377A>T (p.Tyr126Phe)
c.248A>T (p.Tyr83Phe)
n.69+2160T>A
17g.8121974T>CCA397988811HES7c.290A>G (p.Tyr97Cys)
c.275A>G (p.Tyr92Cys)
c.266A>G (p.Tyr89Cys)
c.395A>G (p.Tyr132Cys)
c.386A>G (p.Tyr129Cys)
c.377A>G (p.Tyr126Cys)
c.248A>G (p.Tyr83Cys)
n.69+2160T>C
 dbSNP gnomAD v2 gnomAD v4
17g.8121974T>GCA397988815HES7c.290A>C (p.Tyr97Ser)
c.275A>C (p.Tyr92Ser)
c.266A>C (p.Tyr89Ser)
c.395A>C (p.Tyr132Ser)
c.386A>C (p.Tyr129Ser)
c.377A>C (p.Tyr126Ser)
c.248A>C (p.Tyr83Ser)
n.69+2160T>G
 dbSNP gnomAD v3 gnomAD v4
17g.8121974T=CA2246160820HES7c.290A= (p.Tyr97=)
c.275A= (p.Tyr92=)
c.266A= (p.Tyr89=)
c.395A= (p.Tyr132=)
c.386A= (p.Tyr129=)
c.377A= (p.Tyr126=)
c.248A= (p.Tyr83=)
n.69+2160T=
17g.8121975A>CCA397988819HES7c.289T>G (p.Tyr97Asp)
c.274T>G (p.Tyr92Asp)
c.265T>G (p.Tyr89Asp)
c.394T>G (p.Tyr132Asp)
c.385T>G (p.Tyr129Asp)
c.376T>G (p.Tyr126Asp)
c.247T>G (p.Tyr83Asp)
n.69+2161A>C
17g.8121975A>GCA397988821HES7c.289T>C (p.Tyr97His)
c.274T>C (p.Tyr92His)
c.265T>C (p.Tyr89His)
c.394T>C (p.Tyr132His)
c.385T>C (p.Tyr129His)
c.376T>C (p.Tyr126His)
c.247T>C (p.Tyr83His)
n.69+2161A>G
 gnomAD v4
17g.8121975A>TCA397988823HES7c.289T>A (p.Tyr97Asn)
c.274T>A (p.Tyr92Asn)
c.265T>A (p.Tyr89Asn)
c.394T>A (p.Tyr132Asn)
c.385T>A (p.Tyr129Asn)
c.376T>A (p.Tyr126Asn)
c.247T>A (p.Tyr83Asn)
n.69+2161A>T
17g.8121976G>ACA497955332HES7c.288C>T (p.Cys96=)
c.273C>T (p.Cys91=)
c.264C>T (p.Cys88=)
c.393C>T (p.Cys131=)
c.384C>T (p.Cys128=)
c.375C>T (p.Cys125=)
c.246C>T (p.Cys82=)
n.69+2162G>A
17g.8121976G>CCA397988826HES7c.288C>G (p.Cys96Trp)
c.273C>G (p.Cys91Trp)
c.264C>G (p.Cys88Trp)
c.393C>G (p.Cys131Trp)
c.384C>G (p.Cys128Trp)
c.375C>G (p.Cys125Trp)
c.246C>G (p.Cys82Trp)
n.69+2162G>C
 gnomAD v4
17g.8121976G>TCA397988827HES7c.288C>A (p.Cys96Ter)
c.273C>A (p.Cys91Ter)
c.264C>A (p.Cys88Ter)
c.393C>A (p.Cys131Ter)
c.384C>A (p.Cys128Ter)
c.375C>A (p.Cys125Ter)
c.246C>A (p.Cys82Ter)
n.69+2162G>T
 gnomAD v4
17g.8121977C>ACA287537340HES7c.287G>T (p.Cys96Phe)
c.272G>T (p.Cys91Phe)
c.263G>T (p.Cys88Phe)
c.392G>T (p.Cys131Phe)
c.383G>T (p.Cys128Phe)
c.374G>T (p.Cys125Phe)
c.245G>T (p.Cys82Phe)
n.69+2163C>A
 dbSNP
17g.8121977C=CA2246160825HES7c.287G= (p.Cys96=)
c.272G= (p.Cys91=)
c.263G= (p.Cys88=)
c.392G= (p.Cys131=)
c.383G= (p.Cys128=)
c.374G= (p.Cys125=)
c.245G= (p.Cys82=)
n.69+2163C=
17g.8121977C>GCA397988828HES7c.287G>C (p.Cys96Ser)
c.272G>C (p.Cys91Ser)
c.263G>C (p.Cys88Ser)
c.392G>C (p.Cys131Ser)
c.383G>C (p.Cys128Ser)
c.374G>C (p.Cys125Ser)
c.245G>C (p.Cys82Ser)
n.69+2163C>G
17g.8121977C>TCA397988829HES7c.287G>A (p.Cys96Tyr)
c.272G>A (p.Cys91Tyr)
c.263G>A (p.Cys88Tyr)
c.392G>A (p.Cys131Tyr)
c.383G>A (p.Cys128Tyr)
c.374G>A (p.Cys125Tyr)
c.245G>A (p.Cys82Tyr)
n.69+2163C>T
 gnomAD v4
17g.8121978A=CA2246160831HES7c.286T= (p.Cys96=)
c.271T= (p.Cys91=)
c.262T= (p.Cys88=)
c.391T= (p.Cys131=)
c.382T= (p.Cys128=)
c.373T= (p.Cys125=)
c.244T= (p.Cys82=)
n.69+2164A=
17g.8121978A>CCA8368668HES7c.286T>G (p.Cys96Gly)
c.271T>G (p.Cys91Gly)
c.262T>G (p.Cys88Gly)
c.391T>G (p.Cys131Gly)
c.382T>G (p.Cys128Gly)
c.373T>G (p.Cys125Gly)
c.244T>G (p.Cys82Gly)
n.69+2164A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8121978A>GCA397988830HES7c.286T>C (p.Cys96Arg)
c.271T>C (p.Cys91Arg)
c.262T>C (p.Cys88Arg)
c.391T>C (p.Cys131Arg)
c.382T>C (p.Cys128Arg)
c.373T>C (p.Cys125Arg)
c.244T>C (p.Cys82Arg)
n.69+2164A>G
 gnomAD v4
17g.8121978A>TCA8368669HES7c.286T>A (p.Cys96Ser)
c.271T>A (p.Cys91Ser)
c.262T>A (p.Cys88Ser)
c.391T>A (p.Cys131Ser)
c.382T>A (p.Cys128Ser)
c.373T>A (p.Cys125Ser)
c.244T>A (p.Cys82Ser)
n.69+2164A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8121979G>ACA497955339HES7c.285C>T (p.Ser95=)
c.270C>T (p.Ser90=)
c.261C>T (p.Ser87=)
c.390C>T (p.Ser130=)
c.381C>T (p.Ser127=)
c.372C>T (p.Ser124=)
c.243C>T (p.Ser81=)
n.69+2165G>A
 gnomAD v4
17g.8121979G>CCA397988834HES7c.285C>G (p.Ser95Arg)
c.270C>G (p.Ser90Arg)
c.261C>G (p.Ser87Arg)
c.390C>G (p.Ser130Arg)
c.381C>G (p.Ser127Arg)
c.372C>G (p.Ser124Arg)
c.243C>G (p.Ser81Arg)
n.69+2165G>C
17g.8121979G>TCA397988837HES7c.285C>A (p.Ser95Arg)
c.270C>A (p.Ser90Arg)
c.261C>A (p.Ser87Arg)
c.390C>A (p.Ser130Arg)
c.381C>A (p.Ser127Arg)
c.372C>A (p.Ser124Arg)
c.243C>A (p.Ser81Arg)
n.69+2165G>T
17g.8121980C>ACA397988840HES7c.284G>T (p.Ser95Ile)
c.269G>T (p.Ser90Ile)
c.260G>T (p.Ser87Ile)
c.389G>T (p.Ser130Ile)
c.380G>T (p.Ser127Ile)
c.371G>T (p.Ser124Ile)
c.242G>T (p.Ser81Ile)
n.69+2166C>A
 gnomAD v4 COSMIC
17g.8121980C>GCA397988841HES7c.284G>C (p.Ser95Thr)
c.269G>C (p.Ser90Thr)
c.260G>C (p.Ser87Thr)
c.389G>C (p.Ser130Thr)
c.380G>C (p.Ser127Thr)
c.371G>C (p.Ser124Thr)
c.242G>C (p.Ser81Thr)
n.69+2166C>G
17g.8121980C>TCA397988845HES7c.284G>A (p.Ser95Asn)
c.269G>A (p.Ser90Asn)
c.260G>A (p.Ser87Asn)
c.389G>A (p.Ser130Asn)
c.380G>A (p.Ser127Asn)
c.371G>A (p.Ser124Asn)
c.242G>A (p.Ser81Asn)
n.69+2166C>T
 gnomAD v4
17g.8121981T>ACA397988848HES7c.283A>T (p.Ser95Cys)
c.268A>T (p.Ser90Cys)
c.259A>T (p.Ser87Cys)
c.388A>T (p.Ser130Cys)
c.379A>T (p.Ser127Cys)
c.370A>T (p.Ser124Cys)
c.241A>T (p.Ser81Cys)
n.69+2167T>A
17g.8121981T>CCA397988851HES7c.283A>G (p.Ser95Gly)
c.268A>G (p.Ser90Gly)
c.259A>G (p.Ser87Gly)
c.388A>G (p.Ser130Gly)
c.379A>G (p.Ser127Gly)
c.370A>G (p.Ser124Gly)
c.241A>G (p.Ser81Gly)
n.69+2167T>C
 dbSNP gnomAD v3 gnomAD v4
17g.8121981T>GCA397988853HES7c.283A>C (p.Ser95Arg)
c.268A>C (p.Ser90Arg)
c.259A>C (p.Ser87Arg)
c.388A>C (p.Ser130Arg)
c.379A>C (p.Ser127Arg)
c.370A>C (p.Ser124Arg)
c.241A>C (p.Ser81Arg)
n.69+2167T>G
17g.8121981T=CA2246160835HES7c.283A= (p.Ser95=)
c.268A= (p.Ser90=)
c.259A= (p.Ser87=)
c.388A= (p.Ser130=)
c.379A= (p.Ser127=)
c.370A= (p.Ser124=)
c.241A= (p.Ser81=)
n.69+2167T=
17g.8121982G>ACA497955346HES7c.282C>T (p.Ala94=)
c.267C>T (p.Ala89=)
c.258C>T (p.Ala86=)
c.387C>T (p.Ala129=)
c.378C>T (p.Ala126=)
c.369C>T (p.Ala123=)
c.240C>T (p.Ala80=)
n.69+2168G>A
 dbSNP gnomAD v2 gnomAD v4
17g.8121982G>CCA497955347HES7c.282C>G (p.Ala94=)
c.267C>G (p.Ala89=)
c.258C>G (p.Ala86=)
c.387C>G (p.Ala129=)
c.378C>G (p.Ala126=)
c.369C>G (p.Ala123=)
c.240C>G (p.Ala80=)
n.69+2168G>C
17g.8121982G=CA2246160844HES7c.282C= (p.Ala94=)
c.267C= (p.Ala89=)
c.258C= (p.Ala86=)
c.387C= (p.Ala129=)
c.378C= (p.Ala126=)
c.369C= (p.Ala123=)
c.240C= (p.Ala80=)
n.69+2168G=
17g.8121982G>TCA497955348HES7c.282C>A (p.Ala94=)
c.267C>A (p.Ala89=)
c.258C>A (p.Ala86=)
c.387C>A (p.Ala129=)
c.378C>A (p.Ala126=)
c.369C>A (p.Ala123=)
c.240C>A (p.Ala80=)
n.69+2168G>T
17g.8121983G>ACA397988855HES7c.281C>T (p.Ala94Val)
c.266C>T (p.Ala89Val)
c.257C>T (p.Ala86Val)
c.386C>T (p.Ala129Val)
c.377C>T (p.Ala126Val)
c.368C>T (p.Ala123Val)
c.239C>T (p.Ala80Val)
n.69+2169G>A
17g.8121983G>CCA397988856HES7c.281C>G (p.Ala94Gly)
c.266C>G (p.Ala89Gly)
c.257C>G (p.Ala86Gly)
c.386C>G (p.Ala129Gly)
c.377C>G (p.Ala126Gly)
c.368C>G (p.Ala123Gly)
c.239C>G (p.Ala80Gly)
n.69+2169G>C
 gnomAD v4
17g.8121983G>TCA397988857HES7c.281C>A (p.Ala94Asp)
c.266C>A (p.Ala89Asp)
c.257C>A (p.Ala86Asp)
c.386C>A (p.Ala129Asp)
c.377C>A (p.Ala126Asp)
c.368C>A (p.Ala123Asp)
c.239C>A (p.Ala80Asp)
n.69+2169G>T
17g.8121984C>ACA397988858HES7c.280G>T (p.Ala94Ser)
c.265G>T (p.Ala89Ser)
c.256G>T (p.Ala86Ser)
c.385G>T (p.Ala129Ser)
c.376G>T (p.Ala126Ser)
c.367G>T (p.Ala123Ser)
c.238G>T (p.Ala80Ser)
n.69+2170C>A
 dbSNP gnomAD v2 gnomAD v4
17g.8121984C=CA2246160848HES7c.280G= (p.Ala94=)
c.265G= (p.Ala89=)
c.256G= (p.Ala86=)
c.385G= (p.Ala129=)
c.376G= (p.Ala126=)
c.367G= (p.Ala123=)
c.238G= (p.Ala80=)
n.69+2170C=
17g.8121984C>GCA397988860HES7c.280G>C (p.Ala94Pro)
c.265G>C (p.Ala89Pro)
c.256G>C (p.Ala86Pro)
c.385G>C (p.Ala129Pro)
c.376G>C (p.Ala126Pro)
c.367G>C (p.Ala123Pro)
c.238G>C (p.Ala80Pro)
n.69+2170C>G
17g.8121984C>TCA397988862HES7c.280G>A (p.Ala94Thr)
c.265G>A (p.Ala89Thr)
c.256G>A (p.Ala86Thr)
c.385G>A (p.Ala129Thr)
c.376G>A (p.Ala126Thr)
c.367G>A (p.Ala123Thr)
c.238G>A (p.Ala80Thr)
n.69+2170C>T
 dbSNP gnomAD v4
17g.8121985G>ACA497955355HES7c.279C>T (p.Leu93=)
c.264C>T (p.Leu88=)
c.255C>T (p.Leu85=)
c.384C>T (p.Leu128=)
c.375C>T (p.Leu125=)
c.366C>T (p.Leu122=)
c.237C>T (p.Leu79=)
n.69+2171G>A
 dbSNP gnomAD v3 gnomAD v4
17g.8121985G>CCA497955359HES7c.279C>G (p.Leu93=)
c.264C>G (p.Leu88=)
c.255C>G (p.Leu85=)
c.384C>G (p.Leu128=)
c.375C>G (p.Leu125=)
c.366C>G (p.Leu122=)
c.237C>G (p.Leu79=)
n.69+2171G>C
17g.8121985G=CA2246160851HES7c.279C= (p.Leu93=)
c.264C= (p.Leu88=)
c.255C= (p.Leu85=)
c.384C= (p.Leu128=)
c.375C= (p.Leu125=)
c.366C= (p.Leu122=)
c.237C= (p.Leu79=)
n.69+2171G=
17g.8121985G>TCA497955360HES7c.279C>A (p.Leu93=)
c.264C>A (p.Leu88=)
c.255C>A (p.Leu85=)
c.384C>A (p.Leu128=)
c.375C>A (p.Leu125=)
c.366C>A (p.Leu122=)
c.237C>A (p.Leu79=)
n.69+2171G>T
 gnomAD v4
17g.8121986A>CCA397988869HES7c.278T>G (p.Leu93Arg)
c.263T>G (p.Leu88Arg)
c.254T>G (p.Leu85Arg)
c.383T>G (p.Leu128Arg)
c.374T>G (p.Leu125Arg)
c.365T>G (p.Leu122Arg)
c.236T>G (p.Leu79Arg)
n.69+2172A>C
17g.8121986A>GCA397988864HES7c.278T>C (p.Leu93Pro)
c.263T>C (p.Leu88Pro)
c.254T>C (p.Leu85Pro)
c.383T>C (p.Leu128Pro)
c.374T>C (p.Leu125Pro)
c.365T>C (p.Leu122Pro)
c.236T>C (p.Leu79Pro)
n.69+2172A>G
17g.8121986A>TCA397988866HES7c.278T>A (p.Leu93His)
c.263T>A (p.Leu88His)
c.254T>A (p.Leu85His)
c.383T>A (p.Leu128His)
c.374T>A (p.Leu125His)
c.365T>A (p.Leu122His)
c.236T>A (p.Leu79His)
n.69+2172A>T
17g.8121987G>ACA397988872HES7c.277C>T (p.Leu93Phe)
c.262C>T (p.Leu88Phe)
c.253C>T (p.Leu85Phe)
c.382C>T (p.Leu128Phe)
c.373C>T (p.Leu125Phe)
c.364C>T (p.Leu122Phe)
c.235C>T (p.Leu79Phe)
n.69+2173G>A
 gnomAD v4
17g.8121987G>CCA397988873HES7c.277C>G (p.Leu93Val)
c.262C>G (p.Leu88Val)
c.253C>G (p.Leu85Val)
c.382C>G (p.Leu128Val)
c.373C>G (p.Leu125Val)
c.364C>G (p.Leu122Val)
c.235C>G (p.Leu79Val)
n.69+2173G>C
17g.8121987G>TCA397988876HES7c.277C>A (p.Leu93Ile)
c.262C>A (p.Leu88Ile)
c.253C>A (p.Leu85Ile)
c.382C>A (p.Leu128Ile)
c.373C>A (p.Leu125Ile)
c.364C>A (p.Leu122Ile)
c.235C>A (p.Leu79Ile)
n.69+2173G>T
 gnomAD v4
17g.8121988C>ACA497955367HES7c.276G>T (p.Ala92=)
c.261G>T (p.Ala87=)
c.252G>T (p.Ala84=)
c.381G>T (p.Ala127=)
c.372G>T (p.Ala124=)
c.363G>T (p.Ala121=)
c.234G>T (p.Ala78=)
n.69+2174C>A
 ClinVar dbSNP gnomAD v4
17g.8121988C>GCA497955368HES7c.276G>C (p.Ala92=)
c.261G>C (p.Ala87=)
c.252G>C (p.Ala84=)
c.381G>C (p.Ala127=)
c.372G>C (p.Ala124=)
c.363G>C (p.Ala121=)
c.234G>C (p.Ala78=)
n.69+2174C>G
 gnomAD v4
17g.8121988C>TCA497955369HES7c.276G>A (p.Ala92=)
c.261G>A (p.Ala87=)
c.252G>A (p.Ala84=)
c.381G>A (p.Ala127=)
c.372G>A (p.Ala124=)
c.363G>A (p.Ala121=)
c.234G>A (p.Ala78=)
n.69+2174C>T
 gnomAD v4
17g.8121989G>ACA397988880HES7c.275C>T (p.Ala92Val)
c.260C>T (p.Ala87Val)
c.251C>T (p.Ala84Val)
c.380C>T (p.Ala127Val)
c.371C>T (p.Ala124Val)
c.362C>T (p.Ala121Val)
c.233C>T (p.Ala78Val)
n.69+2175G>A
 gnomAD v4
17g.8121989G>CCA397988883HES7c.275C>G (p.Ala92Gly)
c.260C>G (p.Ala87Gly)
c.251C>G (p.Ala84Gly)
c.380C>G (p.Ala127Gly)
c.371C>G (p.Ala124Gly)
c.362C>G (p.Ala121Gly)
c.233C>G (p.Ala78Gly)
n.69+2175G>C
17g.8121989G>TCA397988885HES7c.275C>A (p.Ala92Glu)
c.260C>A (p.Ala87Glu)
c.251C>A (p.Ala84Glu)
c.380C>A (p.Ala127Glu)
c.371C>A (p.Ala124Glu)
c.362C>A (p.Ala121Glu)
c.233C>A (p.Ala78Glu)
n.69+2175G>T
 gnomAD v4
17g.8121989_8121990delinsGCCA2246160855HES7c.274_275delinsGC (p.Ala92=)
c.259_260delinsGC (p.Ala87=)
c.250_251delinsGC (p.Ala84=)
c.379_380delinsGC (p.Ala127=)
c.370_371delinsGC (p.Ala124=)
c.361_362delinsGC (p.Ala121=)
c.232_233delinsGC (p.Ala78=)
n.69+2175_69+2176delinsGC
17g.8121990C>ACA397988889HES7c.274G>T (p.Ala92Ser)
c.259G>T (p.Ala87Ser)
c.250G>T (p.Ala84Ser)
c.379G>T (p.Ala127Ser)
c.370G>T (p.Ala124Ser)
c.361G>T (p.Ala121Ser)
c.232G>T (p.Ala78Ser)
n.69+2176C>A
17g.8121990C=CA2246160860HES7c.274G= (p.Ala92=)
c.259G= (p.Ala87=)
c.250G= (p.Ala84=)
c.379G= (p.Ala127=)
c.370G= (p.Ala124=)
c.361G= (p.Ala121=)
c.232G= (p.Ala78=)
n.69+2176C=
17g.8121990C>GCA397988891HES7c.274G>C (p.Ala92Pro)
c.259G>C (p.Ala87Pro)
c.250G>C (p.Ala84Pro)
c.379G>C (p.Ala127Pro)
c.370G>C (p.Ala124Pro)
c.361G>C (p.Ala121Pro)
c.232G>C (p.Ala78Pro)
n.69+2176C>G
17g.8121990C>TCA397988893HES7c.274G>A (p.Ala92Thr)
c.259G>A (p.Ala87Thr)
c.250G>A (p.Ala84Thr)
c.379G>A (p.Ala127Thr)
c.370G>A (p.Ala124Thr)
c.361G>A (p.Ala121Thr)
c.232G>A (p.Ala78Thr)
n.69+2176C>T
 dbSNP gnomAD v4
17g.8121991delCA2246160861HES7c.274del (p.Ala92ArgfsTer?)
c.259del (p.Ala87ArgfsTer?)
c.250del (p.Ala84ArgfsTer?)
c.379del (p.Ala127ArgfsTer?)
c.370del (p.Ala124ArgfsTer?)
c.361del (p.Ala121ArgfsTer?)
c.232del (p.Ala78ArgfsTer?)
n.69+2177del
 dbSNP
17g.8121991C>ACA397988896HES7c.273G>T (p.Glu91Asp)
c.258G>T (p.Glu86Asp)
c.249G>T (p.Glu83Asp)
c.378G>T (p.Glu126Asp)
c.369G>T (p.Glu123Asp)
c.360G>T (p.Glu120Asp)
c.231G>T (p.Glu77Asp)
n.69+2177C>A
 gnomAD v4
17g.8121991C>GCA397988899HES7c.273G>C (p.Glu91Asp)
c.258G>C (p.Glu86Asp)
c.249G>C (p.Glu83Asp)
c.378G>C (p.Glu126Asp)
c.369G>C (p.Glu123Asp)
c.360G>C (p.Glu120Asp)
c.231G>C (p.Glu77Asp)
n.69+2177C>G
17g.8121991C>TCA497955377HES7c.273G>A (p.Glu91=)
c.258G>A (p.Glu86=)
c.249G>A (p.Glu83=)
c.378G>A (p.Glu126=)
c.369G>A (p.Glu123=)
c.360G>A (p.Glu120=)
c.231G>A (p.Glu77=)
n.69+2177C>T
 gnomAD v4
17g.8121992T>ACA397988906HES7c.272A>T (p.Glu91Val)
c.257A>T (p.Glu86Val)
c.248A>T (p.Glu83Val)
c.377A>T (p.Glu126Val)
c.368A>T (p.Glu123Val)
c.359A>T (p.Glu120Val)
c.230A>T (p.Glu77Val)
n.69+2178T>A
17g.8121992T>CCA397988904HES7c.272A>G (p.Glu91Gly)
c.257A>G (p.Glu86Gly)
c.248A>G (p.Glu83Gly)
c.377A>G (p.Glu126Gly)
c.368A>G (p.Glu123Gly)
c.359A>G (p.Glu120Gly)
c.230A>G (p.Glu77Gly)
n.69+2178T>C
 gnomAD v4
17g.8121992T>GCA397988902HES7c.272A>C (p.Glu91Ala)
c.257A>C (p.Glu86Ala)
c.248A>C (p.Glu83Ala)
c.377A>C (p.Glu126Ala)
c.368A>C (p.Glu123Ala)
c.359A>C (p.Glu120Ala)
c.230A>C (p.Glu77Ala)
n.69+2178T>G
17g.8121993C>ACA397988908HES7c.271G>T (p.Glu91Ter)
c.256G>T (p.Glu86Ter)
c.247G>T (p.Glu83Ter)
c.376G>T (p.Glu126Ter)
c.367G>T (p.Glu123Ter)
c.358G>T (p.Glu120Ter)
c.229G>T (p.Glu77Ter)
n.69+2179C>A
 gnomAD v4
17g.8121993C>GCA397988913HES7c.271G>C (p.Glu91Gln)
c.256G>C (p.Glu86Gln)
c.247G>C (p.Glu83Gln)
c.376G>C (p.Glu126Gln)
c.367G>C (p.Glu123Gln)
c.358G>C (p.Glu120Gln)
c.229G>C (p.Glu77Gln)
n.69+2179C>G
17g.8121993C>TCA397988911HES7c.271G>A (p.Glu91Lys)
c.256G>A (p.Glu86Lys)
c.247G>A (p.Glu83Lys)
c.376G>A (p.Glu126Lys)
c.367G>A (p.Glu123Lys)
c.358G>A (p.Glu120Lys)
c.229G>A (p.Glu77Lys)
n.69+2179C>T
 gnomAD v4
17g.8121994G>ACA497955383HES7c.270C>T (p.Ala90=)
c.255C>T (p.Ala85=)
c.246C>T (p.Ala82=)
c.375C>T (p.Ala125=)
c.366C>T (p.Ala122=)
c.357C>T (p.Ala119=)
c.228C>T (p.Ala76=)
n.69+2180G>A
 gnomAD v4
17g.8121994G>CCA497955387HES7c.270C>G (p.Ala90=)
c.255C>G (p.Ala85=)
c.246C>G (p.Ala82=)
c.375C>G (p.Ala125=)
c.366C>G (p.Ala122=)
c.357C>G (p.Ala119=)
c.228C>G (p.Ala76=)
n.69+2180G>C
17g.8121994G>TCA497955385HES7c.270C>A (p.Ala90=)
c.255C>A (p.Ala85=)
c.246C>A (p.Ala82=)
c.375C>A (p.Ala125=)
c.366C>A (p.Ala122=)
c.357C>A (p.Ala119=)
c.228C>A (p.Ala76=)
n.69+2180G>T
 gnomAD v4
17g.8121995G>ACA397988917HES7c.269C>T (p.Ala90Val)
c.254C>T (p.Ala85Val)
c.245C>T (p.Ala82Val)
c.374C>T (p.Ala125Val)
c.365C>T (p.Ala122Val)
c.356C>T (p.Ala119Val)
c.227C>T (p.Ala76Val)
n.69+2181G>A
 gnomAD v4
17g.8121995G>CCA397988920HES7c.269C>G (p.Ala90Gly)
c.254C>G (p.Ala85Gly)
c.245C>G (p.Ala82Gly)
c.374C>G (p.Ala125Gly)
c.365C>G (p.Ala122Gly)
c.356C>G (p.Ala119Gly)
c.227C>G (p.Ala76Gly)
n.69+2181G>C
17g.8121995G>TCA397988922HES7c.269C>A (p.Ala90Asp)
c.254C>A (p.Ala85Asp)
c.245C>A (p.Ala82Asp)
c.374C>A (p.Ala125Asp)
c.365C>A (p.Ala122Asp)
c.356C>A (p.Ala119Asp)
c.227C>A (p.Ala76Asp)
n.69+2181G>T
17g.8121996C>ACA397988925HES7c.268G>T (p.Ala90Ser)
c.253G>T (p.Ala85Ser)
c.244G>T (p.Ala82Ser)
c.373G>T (p.Ala125Ser)
c.364G>T (p.Ala122Ser)
c.355G>T (p.Ala119Ser)
c.226G>T (p.Ala76Ser)
n.69+2182C>A
 dbSNP gnomAD v4
17g.8121996C=CA2246160865HES7c.268G= (p.Ala90=)
c.253G= (p.Ala85=)
c.244G= (p.Ala82=)
c.373G= (p.Ala125=)
c.364G= (p.Ala122=)
c.355G= (p.Ala119=)
c.226G= (p.Ala76=)
n.69+2182C=
17g.8121996C>GCA397988928HES7c.268G>C (p.Ala90Pro)
c.253G>C (p.Ala85Pro)
c.244G>C (p.Ala82Pro)
c.373G>C (p.Ala125Pro)
c.364G>C (p.Ala122Pro)
c.355G>C (p.Ala119Pro)
c.226G>C (p.Ala76Pro)
n.69+2182C>G
 gnomAD v4
17g.8121996C>TCA397988931HES7c.268G>A (p.Ala90Thr)
c.253G>A (p.Ala85Thr)
c.244G>A (p.Ala82Thr)
c.373G>A (p.Ala125Thr)
c.364G>A (p.Ala122Thr)
c.355G>A (p.Ala119Thr)
c.226G>A (p.Ala76Thr)
n.69+2182C>T
 gnomAD v4
17g.8121997G>ACA497955392HES7c.267C>T (p.Asp89=)
c.252C>T (p.Asp84=)
c.243C>T (p.Asp81=)
c.372C>T (p.Asp124=)
c.363C>T (p.Asp121=)
c.354C>T (p.Asp118=)
c.225C>T (p.Asp75=)
n.69+2183G>A
 dbSNP gnomAD v2 gnomAD v4
17g.8121997G>CCA397988936HES7c.267C>G (p.Asp89Glu)
c.252C>G (p.Asp84Glu)
c.243C>G (p.Asp81Glu)
c.372C>G (p.Asp124Glu)
c.363C>G (p.Asp121Glu)
c.354C>G (p.Asp118Glu)
c.225C>G (p.Asp75Glu)
n.69+2183G>C
17g.8121997G=CA2246160871HES7c.267C= (p.Asp89=)
c.252C= (p.Asp84=)
c.243C= (p.Asp81=)
c.372C= (p.Asp124=)
c.363C= (p.Asp121=)
c.354C= (p.Asp118=)
c.225C= (p.Asp75=)
n.69+2183G=
17g.8121997G>TCA397988938HES7c.267C>A (p.Asp89Glu)
c.252C>A (p.Asp84Glu)
c.243C>A (p.Asp81Glu)
c.372C>A (p.Asp124Glu)
c.363C>A (p.Asp121Glu)
c.354C>A (p.Asp118Glu)
c.225C>A (p.Asp75Glu)
n.69+2183G>T
 gnomAD v4
17g.8121998T>ACA397988940HES7c.266A>T (p.Asp89Val)
c.251A>T (p.Asp84Val)
c.242A>T (p.Asp81Val)
c.371A>T (p.Asp124Val)
c.362A>T (p.Asp121Val)
c.353A>T (p.Asp118Val)
c.224A>T (p.Asp75Val)
n.69+2184T>A
17g.8121998T>CCA397988943HES7c.266A>G (p.Asp89Gly)
c.251A>G (p.Asp84Gly)
c.242A>G (p.Asp81Gly)
c.371A>G (p.Asp124Gly)
c.362A>G (p.Asp121Gly)
c.353A>G (p.Asp118Gly)
c.224A>G (p.Asp75Gly)
n.69+2184T>C
17g.8121998T>GCA397988947HES7c.266A>C (p.Asp89Ala)
c.251A>C (p.Asp84Ala)
c.242A>C (p.Asp81Ala)
c.371A>C (p.Asp124Ala)
c.362A>C (p.Asp121Ala)
c.353A>C (p.Asp118Ala)
c.224A>C (p.Asp75Ala)
n.69+2184T>G
17g.8121998_8121999delinsTCCA2246160874HES7c.265_266delinsGA (p.Asp89=)
c.250_251delinsGA (p.Asp84=)
c.241_242delinsGA (p.Asp81=)
c.370_371delinsGA (p.Asp124=)
c.361_362delinsGA (p.Asp121=)
c.352_353delinsGA (p.Asp118=)
c.223_224delinsGA (p.Asp75=)
n.69+2184_69+2185delinsTC
17g.8121999C>ACA397988949HES7c.265G>T (p.Asp89Tyr)
c.250G>T (p.Asp84Tyr)
c.241G>T (p.Asp81Tyr)
c.370G>T (p.Asp124Tyr)
c.361G>T (p.Asp121Tyr)
c.352G>T (p.Asp118Tyr)
c.223G>T (p.Asp75Tyr)
n.69+2185C>A
17g.8121999C>GCA397988952HES7c.265G>C (p.Asp89His)
c.250G>C (p.Asp84His)
c.241G>C (p.Asp81His)
c.370G>C (p.Asp124His)
c.361G>C (p.Asp121His)
c.352G>C (p.Asp118His)
c.223G>C (p.Asp75His)
n.69+2185C>G
17g.8121999C>TCA397988954HES7c.265G>A (p.Asp89Asn)
c.250G>A (p.Asp84Asn)
c.241G>A (p.Asp81Asn)
c.370G>A (p.Asp124Asn)
c.361G>A (p.Asp121Asn)
c.352G>A (p.Asp118Asn)
c.223G>A (p.Asp75Asn)
n.69+2185C>T
17g.8122000delCA775624043HES7c.265del (p.Asp89ThrfsTer?)
c.250del (p.Asp84ThrfsTer?)
c.241del (p.Asp81ThrfsTer?)
c.370del (p.Asp124ThrfsTer?)
c.361del (p.Asp121ThrfsTer?)
c.352del (p.Asp118ThrfsTer?)
c.223del (p.Asp75ThrfsTer?)
n.69+2186del
 dbSNP
17g.8122000C>ACA397988957HES7c.264G>T (p.Gln88His)
c.249G>T (p.Gln83His)
c.240G>T (p.Gln80His)
c.369G>T (p.Gln123His)
c.360G>T (p.Gln120His)
c.351G>T (p.Gln117His)
c.222G>T (p.Gln74His)
n.69+2186C>A
 gnomAD v4
17g.8122000C>GCA397988960HES7c.264G>C (p.Gln88His)
c.249G>C (p.Gln83His)
c.240G>C (p.Gln80His)
c.369G>C (p.Gln123His)
c.360G>C (p.Gln120His)
c.351G>C (p.Gln117His)
c.222G>C (p.Gln74His)
n.69+2186C>G
17g.8122000C>TCA497955401HES7c.264G>A (p.Gln88=)
c.249G>A (p.Gln83=)
c.240G>A (p.Gln80=)
c.369G>A (p.Gln123=)
c.360G>A (p.Gln120=)
c.351G>A (p.Gln117=)
c.222G>A (p.Gln74=)
n.69+2186C>T
17g.8122001T>ACA397988963HES7c.263A>T (p.Gln88Leu)
c.248A>T (p.Gln83Leu)
c.239A>T (p.Gln80Leu)
c.368A>T (p.Gln123Leu)
c.359A>T (p.Gln120Leu)
c.350A>T (p.Gln117Leu)
c.221A>T (p.Gln74Leu)
n.69+2187T>A
17g.8122001T>CCA397988964HES7c.263A>G (p.Gln88Arg)
c.248A>G (p.Gln83Arg)
c.239A>G (p.Gln80Arg)
c.368A>G (p.Gln123Arg)
c.359A>G (p.Gln120Arg)
c.350A>G (p.Gln117Arg)
c.221A>G (p.Gln74Arg)
n.69+2187T>C
 gnomAD v4
17g.8122001T>GCA397988967HES7c.263A>C (p.Gln88Pro)
c.248A>C (p.Gln83Pro)
c.239A>C (p.Gln80Pro)
c.368A>C (p.Gln123Pro)
c.359A>C (p.Gln120Pro)
c.350A>C (p.Gln117Pro)
c.221A>C (p.Gln74Pro)
n.69+2187T>G
17g.8122002G>ACA397988970HES7c.262C>T (p.Gln88Ter)
c.247C>T (p.Gln83Ter)
c.238C>T (p.Gln80Ter)
c.367C>T (p.Gln123Ter)
c.358C>T (p.Gln120Ter)
c.349C>T (p.Gln117Ter)
c.220C>T (p.Gln74Ter)
n.69+2188G>A
 dbSNP gnomAD v3 gnomAD v4
17g.8122002G>CCA397988972HES7c.262C>G (p.Gln88Glu)
c.247C>G (p.Gln83Glu)
c.238C>G (p.Gln80Glu)
c.367C>G (p.Gln123Glu)
c.358C>G (p.Gln120Glu)
c.349C>G (p.Gln117Glu)
c.220C>G (p.Gln74Glu)
n.69+2188G>C
17g.8122002G>TCA397988975HES7c.262C>A (p.Gln88Lys)
c.247C>A (p.Gln83Lys)
c.238C>A (p.Gln80Lys)
c.367C>A (p.Gln123Lys)
c.358C>A (p.Gln120Lys)
c.349C>A (p.Gln117Lys)
c.220C>A (p.Gln74Lys)
n.69+2188G>T
17g.8122003delCA2808397536HES7c.262del (p.Gln88ArgfsTer?)
c.247del (p.Gln83ArgfsTer?)
c.238del (p.Gln80ArgfsTer?)
c.367del (p.Gln123ArgfsTer?)
c.358del (p.Gln120ArgfsTer?)
c.349del (p.Gln117ArgfsTer?)
c.220del (p.Gln74ArgfsTer?)
n.69+2189del
17g.8122003G>ACA497955404HES7c.261C>T (p.Val87=)
c.246C>T (p.Val82=)
c.237C>T (p.Val79=)
c.366C>T (p.Val122=)
c.357C>T (p.Val119=)
c.348C>T (p.Val116=)
c.219C>T (p.Val73=)
n.69+2189G>A
 gnomAD v4
17g.8122003G>CCA497955405HES7c.261C>G (p.Val87=)
c.246C>G (p.Val82=)
c.237C>G (p.Val79=)
c.366C>G (p.Val122=)
c.357C>G (p.Val119=)
c.348C>G (p.Val116=)
c.219C>G (p.Val73=)
n.69+2189G>C
17g.8122003G>TCA497955406HES7c.261C>A (p.Val87=)
c.246C>A (p.Val82=)
c.237C>A (p.Val79=)
c.366C>A (p.Val122=)
c.357C>A (p.Val119=)
c.348C>A (p.Val116=)
c.219C>A (p.Val73=)
n.69+2189G>T
 gnomAD v4
17g.8122004A=CA2246160877HES7c.260T= (p.Val87=)
c.245T= (p.Val82=)
c.236T= (p.Val79=)
c.365T= (p.Val122=)
c.356T= (p.Val119=)
c.347T= (p.Val116=)
c.218T= (p.Val73=)
n.69+2190A=
17g.8122004A>CCA397988978HES7c.260T>G (p.Val87Gly)
c.245T>G (p.Val82Gly)
c.236T>G (p.Val79Gly)
c.365T>G (p.Val122Gly)
c.356T>G (p.Val119Gly)
c.347T>G (p.Val116Gly)
c.218T>G (p.Val73Gly)
n.69+2190A>C
 dbSNP gnomAD v2 gnomAD v4
17g.8122004A>GCA397988981HES7c.260T>C (p.Val87Ala)
c.245T>C (p.Val82Ala)
c.236T>C (p.Val79Ala)
c.365T>C (p.Val122Ala)
c.356T>C (p.Val119Ala)
c.347T>C (p.Val116Ala)
c.218T>C (p.Val73Ala)
n.69+2190A>G
17g.8122004A>TCA397988984HES7c.260T>A (p.Val87Asp)
c.245T>A (p.Val82Asp)
c.236T>A (p.Val79Asp)
c.365T>A (p.Val122Asp)
c.356T>A (p.Val119Asp)
c.347T>A (p.Val116Asp)
c.218T>A (p.Val73Asp)
n.69+2190A>T
17g.8122004_8122005insGACCTCCCCCGGGACCTTCCTGACGCGTTCGACCGAGGCGCTGACGGCCGGCCTCTACGAGGGGCTTCCCGCCAGGTTCCTCGAGCA2741516672HES7c.259_260insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC (p.Val87AlafsTer?)
c.244_245insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC (p.Val82AlafsTer?)
c.235_236insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC (p.Val79AlafsTer?)
c.364_365insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC (p.Val122AlafsTer?)
c.355_356insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC (p.Val119AlafsTer?)
c.346_347insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC (p.Val116AlafsTer?)
c.217_218insCTCGAGGAACCTGGCGGGAAGCCCCTCGTAGAGGCCGGCCGTCAGCGCCTCGGTCGAACGCGTCAGGAAGGTCCCGGGGGAGGTC (p.Val73AlafsTer?)
n.69+2190_69+2191insGACCTCCCCCGGGACCTTCCTGACGCGTTCGACCGAGGCGCTGACGGCCGGCCTCTACGAGGGGCTTCCCGCCAGGTTCCTCGAG
17g.8122005C>ACA397988987HES7c.259G>T (p.Val87Phe)
c.244G>T (p.Val82Phe)
c.235G>T (p.Val79Phe)
c.364G>T (p.Val122Phe)
c.355G>T (p.Val119Phe)
c.346G>T (p.Val116Phe)
c.217G>T (p.Val73Phe)
n.69+2191C>A
 gnomAD v4
17g.8122005C>GCA397988990HES7c.259G>C (p.Val87Leu)
c.244G>C (p.Val82Leu)
c.235G>C (p.Val79Leu)
c.364G>C (p.Val122Leu)
c.355G>C (p.Val119Leu)
c.346G>C (p.Val116Leu)
c.217G>C (p.Val73Leu)
n.69+2191C>G
17g.8122005C>TCA397988992HES7c.259G>A (p.Val87Ile)
c.244G>A (p.Val82Ile)
c.235G>A (p.Val79Ile)
c.364G>A (p.Val122Ile)
c.355G>A (p.Val119Ile)
c.346G>A (p.Val116Ile)
c.217G>A (p.Val73Ile)
n.69+2191C>T
 gnomAD v4
17g.8122006T>ACA497955410HES7c.258A>T (p.Pro86=)
c.243A>T (p.Pro81=)
c.234A>T (p.Pro78=)
c.363A>T (p.Pro121=)
c.354A>T (p.Pro118=)
c.345A>T (p.Pro115=)
c.216A>T (p.Pro72=)
n.69+2192T>A
17g.8122006T>CCA497955411HES7c.258A>G (p.Pro86=)
c.243A>G (p.Pro81=)
c.234A>G (p.Pro78=)
c.363A>G (p.Pro121=)
c.354A>G (p.Pro118=)
c.345A>G (p.Pro115=)
c.216A>G (p.Pro72=)
n.69+2192T>C
 gnomAD v4
17g.8122006T>GCA497955412HES7c.258A>C (p.Pro86=)
c.243A>C (p.Pro81=)
c.234A>C (p.Pro78=)
c.363A>C (p.Pro121=)
c.354A>C (p.Pro118=)
c.345A>C (p.Pro115=)
c.216A>C (p.Pro72=)
n.69+2192T>G
17g.8122007G>ACA397988994HES7c.257C>T (p.Pro86Leu)
c.242C>T (p.Pro81Leu)
c.233C>T (p.Pro78Leu)
c.362C>T (p.Pro121Leu)
c.353C>T (p.Pro118Leu)
c.344C>T (p.Pro115Leu)
c.215C>T (p.Pro72Leu)
n.69+2193G>A
 gnomAD v4
17g.8122007G>CCA397988996HES7c.257C>G (p.Pro86Arg)
c.242C>G (p.Pro81Arg)
c.233C>G (p.Pro78Arg)
c.362C>G (p.Pro121Arg)
c.353C>G (p.Pro118Arg)
c.344C>G (p.Pro115Arg)
c.215C>G (p.Pro72Arg)
n.69+2193G>C
17g.8122007G>TCA397988995HES7c.257C>A (p.Pro86Gln)
c.242C>A (p.Pro81Gln)
c.233C>A (p.Pro78Gln)
c.362C>A (p.Pro121Gln)
c.353C>A (p.Pro118Gln)
c.344C>A (p.Pro115Gln)
c.215C>A (p.Pro72Gln)
n.69+2193G>T
 gnomAD v4
17g.8122010delCA2635938600HES7c.257del (p.Pro86GlnfsTer?)
c.242del (p.Pro81GlnfsTer?)
c.233del (p.Pro78GlnfsTer?)
c.362del (p.Pro121GlnfsTer?)
c.353del (p.Pro118GlnfsTer?)
c.344del (p.Pro115GlnfsTer?)
c.215del (p.Pro72GlnfsTer?)
n.69+2196del
 gnomAD v4
17g.8122008G>ACA397988998HES7c.256C>T (p.Pro86Ser)
c.241C>T (p.Pro81Ser)
c.232C>T (p.Pro78Ser)
c.361C>T (p.Pro121Ser)
c.352C>T (p.Pro118Ser)
c.343C>T (p.Pro115Ser)
c.214C>T (p.Pro72Ser)
n.69+2194G>A
 dbSNP gnomAD v2 gnomAD v4
17g.8122008G>CCA397988999HES7c.256C>G (p.Pro86Ala)
c.241C>G (p.Pro81Ala)
c.232C>G (p.Pro78Ala)
c.361C>G (p.Pro121Ala)
c.352C>G (p.Pro118Ala)
c.343C>G (p.Pro115Ala)
c.214C>G (p.Pro72Ala)
n.69+2194G>C
 dbSNP gnomAD v3 gnomAD v4
17g.8122008G=CA2246160880HES7c.256C= (p.Pro86=)
c.241C= (p.Pro81=)
c.232C= (p.Pro78=)
c.361C= (p.Pro121=)
c.352C= (p.Pro118=)
c.343C= (p.Pro115=)
c.214C= (p.Pro72=)
n.69+2194G=
17g.8122008G>TCA397989001HES7c.256C>A (p.Pro86Thr)
c.241C>A (p.Pro81Thr)
c.232C>A (p.Pro78Thr)
c.361C>A (p.Pro121Thr)
c.352C>A (p.Pro118Thr)
c.343C>A (p.Pro115Thr)
c.214C>A (p.Pro72Thr)
n.69+2194G>T
 gnomAD v4
17g.8122009G>ACA8368670HES7c.255C>T (p.Ser85=)
c.240C>T (p.Ser80=)
c.231C>T (p.Ser77=)
c.360C>T (p.Ser120=)
c.351C>T (p.Ser117=)
c.342C>T (p.Ser114=)
c.213C>T (p.Ser71=)
n.69+2195G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8122009G>CCA497955418HES7c.255C>G (p.Ser85=)
c.240C>G (p.Ser80=)
c.231C>G (p.Ser77=)
c.360C>G (p.Ser120=)
c.351C>G (p.Ser117=)
c.342C>G (p.Ser114=)
c.213C>G (p.Ser71=)
n.69+2195G>C
17g.8122009G=CA2246160887HES7c.255C= (p.Ser85=)
c.240C= (p.Ser80=)
c.231C= (p.Ser77=)
c.360C= (p.Ser120=)
c.351C= (p.Ser117=)
c.342C= (p.Ser114=)
c.213C= (p.Ser71=)
n.69+2195G=
17g.8122009G>TCA497955420HES7c.255C>A (p.Ser85=)
c.240C>A (p.Ser80=)
c.231C>A (p.Ser77=)
c.360C>A (p.Ser120=)
c.351C>A (p.Ser117=)
c.342C>A (p.Ser114=)
c.213C>A (p.Ser71=)
n.69+2195G>T
 gnomAD v4
17g.8122010G>ACA397989004HES7c.254C>T (p.Ser85Phe)
c.239C>T (p.Ser80Phe)
c.230C>T (p.Ser77Phe)
c.359C>T (p.Ser120Phe)
c.350C>T (p.Ser117Phe)
c.341C>T (p.Ser114Phe)
c.212C>T (p.Ser71Phe)
n.69+2196G>A
 dbSNP gnomAD v3 gnomAD v4
17g.8122010G>CCA397989007HES7c.254C>G (p.Ser85Cys)
c.239C>G (p.Ser80Cys)
c.230C>G (p.Ser77Cys)
c.359C>G (p.Ser120Cys)
c.350C>G (p.Ser117Cys)
c.341C>G (p.Ser114Cys)
c.212C>G (p.Ser71Cys)
n.69+2196G>C
 dbSNP gnomAD v2 gnomAD v4
17g.8122010G=CA2246160890HES7c.254C= (p.Ser85=)
c.239C= (p.Ser80=)
c.230C= (p.Ser77=)
c.359C= (p.Ser120=)
c.350C= (p.Ser117=)
c.341C= (p.Ser114=)
c.212C= (p.Ser71=)
n.69+2196G=
17g.8122010G>TCA397989010HES7c.254C>A (p.Ser85Tyr)
c.239C>A (p.Ser80Tyr)
c.230C>A (p.Ser77Tyr)
c.359C>A (p.Ser120Tyr)
c.350C>A (p.Ser117Tyr)
c.341C>A (p.Ser114Tyr)
c.212C>A (p.Ser71Tyr)
n.69+2196G>T
 gnomAD v4
17g.8122011A>CCA397989014HES7c.253T>G (p.Ser85Ala)
c.238T>G (p.Ser80Ala)
c.229T>G (p.Ser77Ala)
c.358T>G (p.Ser120Ala)
c.349T>G (p.Ser117Ala)
c.340T>G (p.Ser114Ala)
c.211T>G (p.Ser71Ala)
n.69+2197A>C
17g.8122011A>GCA397989015HES7c.253T>C (p.Ser85Pro)
c.238T>C (p.Ser80Pro)
c.229T>C (p.Ser77Pro)
c.358T>C (p.Ser120Pro)
c.349T>C (p.Ser117Pro)
c.340T>C (p.Ser114Pro)
c.211T>C (p.Ser71Pro)
n.69+2197A>G
 gnomAD v4
17g.8122011A>TCA397989017HES7c.253T>A (p.Ser85Thr)
c.238T>A (p.Ser80Thr)
c.229T>A (p.Ser77Thr)
c.358T>A (p.Ser120Thr)
c.349T>A (p.Ser117Thr)
c.340T>A (p.Ser114Thr)
c.211T>A (p.Ser71Thr)
n.69+2197A>T
17g.8122012C>ACA497955428HES7c.252G>T (p.Arg84=)
c.237G>T (p.Arg79=)
c.228G>T (p.Arg76=)
c.357G>T (p.Arg119=)
c.348G>T (p.Arg116=)
c.339G>T (p.Arg113=)
c.210G>T (p.Arg70=)
n.69+2198C>A
 gnomAD v4
17g.8122012C>GCA497955429HES7c.252G>C (p.Arg84=)
c.237G>C (p.Arg79=)
c.228G>C (p.Arg76=)
c.357G>C (p.Arg119=)
c.348G>C (p.Arg116=)
c.339G>C (p.Arg113=)
c.210G>C (p.Arg70=)
n.69+2198C>G
17g.8122012C>TCA497955430HES7c.252G>A (p.Arg84=)
c.237G>A (p.Arg79=)
c.228G>A (p.Arg76=)
c.357G>A (p.Arg119=)
c.348G>A (p.Arg116=)
c.339G>A (p.Arg113=)
c.210G>A (p.Arg70=)
n.69+2198C>T
 gnomAD v4
17g.8122013C>ACA397989025HES7c.251G>T (p.Arg84Leu)
c.236G>T (p.Arg79Leu)
c.227G>T (p.Arg76Leu)
c.356G>T (p.Arg119Leu)
c.347G>T (p.Arg116Leu)
c.338G>T (p.Arg113Leu)
c.209G>T (p.Arg70Leu)
n.69+2199C>A
 gnomAD v4
17g.8122013C=CA2246160895HES7c.251G= (p.Arg84=)
c.236G= (p.Arg79=)
c.227G= (p.Arg76=)
c.356G= (p.Arg119=)
c.347G= (p.Arg116=)
c.338G= (p.Arg113=)
c.209G= (p.Arg70=)
n.69+2199C=
17g.8122013C>GCA397989022HES7c.251G>C (p.Arg84Pro)
c.236G>C (p.Arg79Pro)
c.227G>C (p.Arg76Pro)
c.356G>C (p.Arg119Pro)
c.347G>C (p.Arg116Pro)
c.338G>C (p.Arg113Pro)
c.209G>C (p.Arg70Pro)
n.69+2199C>G
17g.8122013C>TCA287537361HES7c.251G>A (p.Arg84Gln)
c.236G>A (p.Arg79Gln)
c.227G>A (p.Arg76Gln)
c.356G>A (p.Arg119Gln)
c.347G>A (p.Arg116Gln)
c.338G>A (p.Arg113Gln)
c.209G>A (p.Arg70Gln)
n.69+2199C>T
 dbSNP gnomAD v4
17g.8122013_8122014delinsCGCA2246160897HES7c.250_251delinsCG (p.Arg84=)
c.235_236delinsCG (p.Arg79=)
c.226_227delinsCG (p.Arg76=)
c.355_356delinsCG (p.Arg119=)
c.346_347delinsCG (p.Arg116=)
c.337_338delinsCG (p.Arg113=)
c.208_209delinsCG (p.Arg70=)
n.69+2199_69+2200delinsCG

Number of alleles fetched