Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.8117792_8126946delCA2573154518 ClinVar
17g.8121715G>ACA497955047HES7c.549C>T (p.Ser183=)
c.534C>T (p.Ser178=)
c.654C>T (p.Ser218=)
c.645C>T (p.Ser215=)
c.636C>T (p.Ser212=)
c.507C>T (p.Ser169=)
n.69+1901G>A
 gnomAD v4
17g.8121715G>CCA497955048HES7c.549C>G (p.Ser183=)
c.534C>G (p.Ser178=)
c.654C>G (p.Ser218=)
c.645C>G (p.Ser215=)
c.636C>G (p.Ser212=)
c.507C>G (p.Ser169=)
n.69+1901G>C
17g.8121715G>TCA497955049HES7c.549C>A (p.Ser183=)
c.534C>A (p.Ser178=)
c.654C>A (p.Ser218=)
c.645C>A (p.Ser215=)
c.636C>A (p.Ser212=)
c.507C>A (p.Ser169=)
n.69+1901G>T
 gnomAD v4
17g.8121716G>ACA397987588HES7c.548C>T (p.Ser183Phe)
c.533C>T (p.Ser178Phe)
c.653C>T (p.Ser218Phe)
c.644C>T (p.Ser215Phe)
c.635C>T (p.Ser212Phe)
c.506C>T (p.Ser169Phe)
n.69+1902G>A
 gnomAD v4
17g.8121716G>CCA397987590HES7c.548C>G (p.Ser183Cys)
c.533C>G (p.Ser178Cys)
c.653C>G (p.Ser218Cys)
c.644C>G (p.Ser215Cys)
c.635C>G (p.Ser212Cys)
c.506C>G (p.Ser169Cys)
n.69+1902G>C
17g.8121716G>TCA397987597HES7c.548C>A (p.Ser183Tyr)
c.533C>A (p.Ser178Tyr)
c.653C>A (p.Ser218Tyr)
c.644C>A (p.Ser215Tyr)
c.635C>A (p.Ser212Tyr)
c.506C>A (p.Ser169Tyr)
n.69+1902G>T
 gnomAD v4
17g.8121717A=CA2246160153HES7c.547T= (p.Ser183=)
c.532T= (p.Ser178=)
c.652T= (p.Ser218=)
c.643T= (p.Ser215=)
c.634T= (p.Ser212=)
c.505T= (p.Ser169=)
n.69+1903A=
17g.8121717A>CCA397987600HES7c.547T>G (p.Ser183Ala)
c.532T>G (p.Ser178Ala)
c.652T>G (p.Ser218Ala)
c.643T>G (p.Ser215Ala)
c.634T>G (p.Ser212Ala)
c.505T>G (p.Ser169Ala)
n.69+1903A>C
17g.8121717A>GCA397987602HES7c.547T>C (p.Ser183Pro)
c.532T>C (p.Ser178Pro)
c.652T>C (p.Ser218Pro)
c.643T>C (p.Ser215Pro)
c.634T>C (p.Ser212Pro)
c.505T>C (p.Ser169Pro)
n.69+1903A>G
17g.8121717A>TCA397987605HES7c.547T>A (p.Ser183Thr)
c.532T>A (p.Ser178Thr)
c.652T>A (p.Ser218Thr)
c.643T>A (p.Ser215Thr)
c.634T>A (p.Ser212Thr)
c.505T>A (p.Ser169Thr)
n.69+1903A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8121718T>ACA497955056HES7c.546A>T (p.Pro182=)
c.531A>T (p.Pro177=)
c.651A>T (p.Pro217=)
c.642A>T (p.Pro214=)
c.633A>T (p.Pro211=)
c.504A>T (p.Pro168=)
n.69+1904T>A
17g.8121718T>CCA8368616HES7c.546A>G (p.Pro182=)
c.531A>G (p.Pro177=)
c.651A>G (p.Pro217=)
c.642A>G (p.Pro214=)
c.633A>G (p.Pro211=)
c.504A>G (p.Pro168=)
n.69+1904T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8121718T>GCA497955057HES7c.546A>C (p.Pro182=)
c.531A>C (p.Pro177=)
c.651A>C (p.Pro217=)
c.642A>C (p.Pro214=)
c.633A>C (p.Pro211=)
c.504A>C (p.Pro168=)
n.69+1904T>G
17g.8121718T=CA2246160160HES7c.546A= (p.Pro182=)
c.531A= (p.Pro177=)
c.651A= (p.Pro217=)
c.642A= (p.Pro214=)
c.633A= (p.Pro211=)
c.504A= (p.Pro168=)
n.69+1904T=
17g.8121719G>ACA397987609HES7c.545C>T (p.Pro182Leu)
c.530C>T (p.Pro177Leu)
c.650C>T (p.Pro217Leu)
c.641C>T (p.Pro214Leu)
c.632C>T (p.Pro211Leu)
c.503C>T (p.Pro168Leu)
n.69+1905G>A
 dbSNP gnomAD v2 gnomAD v4
17g.8121719G>CCA397987611HES7c.545C>G (p.Pro182Arg)
c.530C>G (p.Pro177Arg)
c.650C>G (p.Pro217Arg)
c.641C>G (p.Pro214Arg)
c.632C>G (p.Pro211Arg)
c.503C>G (p.Pro168Arg)
n.69+1905G>C
17g.8121719G=CA2246160167HES7c.545C= (p.Pro182=)
c.530C= (p.Pro177=)
c.650C= (p.Pro217=)
c.641C= (p.Pro214=)
c.632C= (p.Pro211=)
c.503C= (p.Pro168=)
n.69+1905G=
17g.8121719G>TCA397987613HES7c.545C>A (p.Pro182Gln)
c.530C>A (p.Pro177Gln)
c.650C>A (p.Pro217Gln)
c.641C>A (p.Pro214Gln)
c.632C>A (p.Pro211Gln)
c.503C>A (p.Pro168Gln)
n.69+1905G>T
 gnomAD v4
17g.8121722delCA2635937199HES7c.545del (p.Pro182HisfsTer?)
c.530del (p.Pro177HisfsTer?)
c.650del (p.Pro217HisfsTer?)
c.641del (p.Pro214HisfsTer?)
c.632del (p.Pro211HisfsTer?)
c.503del (p.Pro168HisfsTer?)
n.69+1908del
 gnomAD v4
17g.8121720G>ACA397987620HES7c.544C>T (p.Pro182Ser)
c.529C>T (p.Pro177Ser)
c.649C>T (p.Pro217Ser)
c.640C>T (p.Pro214Ser)
c.631C>T (p.Pro211Ser)
c.502C>T (p.Pro168Ser)
n.69+1906G>A
 gnomAD v4
17g.8121720G>CCA397987618HES7c.544C>G (p.Pro182Ala)
c.529C>G (p.Pro177Ala)
c.649C>G (p.Pro217Ala)
c.640C>G (p.Pro214Ala)
c.631C>G (p.Pro211Ala)
c.502C>G (p.Pro168Ala)
n.69+1906G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8121720G=CA2246160179HES7c.544C= (p.Pro182=)
c.529C= (p.Pro177=)
c.649C= (p.Pro217=)
c.640C= (p.Pro214=)
c.631C= (p.Pro211=)
c.502C= (p.Pro168=)
n.69+1906G=
17g.8121720G>TCA397987615HES7c.544C>A (p.Pro182Thr)
c.529C>A (p.Pro177Thr)
c.649C>A (p.Pro217Thr)
c.640C>A (p.Pro214Thr)
c.631C>A (p.Pro211Thr)
c.502C>A (p.Pro168Thr)
n.69+1906G>T
 gnomAD v4
17g.8121721G>ACA497955062HES7c.543C>T (p.Ser181=)
c.528C>T (p.Ser176=)
c.648C>T (p.Ser216=)
c.639C>T (p.Ser213=)
c.630C>T (p.Ser210=)
c.501C>T (p.Ser167=)
n.69+1907G>A
 gnomAD v4
17g.8121721G>CCA497955063HES7c.543C>G (p.Ser181=)
c.528C>G (p.Ser176=)
c.648C>G (p.Ser216=)
c.639C>G (p.Ser213=)
c.630C>G (p.Ser210=)
c.501C>G (p.Ser167=)
n.69+1907G>C
 gnomAD v4
17g.8121721G>TCA497955064HES7c.543C>A (p.Ser181=)
c.528C>A (p.Ser176=)
c.648C>A (p.Ser216=)
c.639C>A (p.Ser213=)
c.630C>A (p.Ser210=)
c.501C>A (p.Ser167=)
n.69+1907G>T
 gnomAD v4
17g.8121722G>ACA397987621HES7c.542C>T (p.Ser181Phe)
c.527C>T (p.Ser176Phe)
c.647C>T (p.Ser216Phe)
c.638C>T (p.Ser213Phe)
c.629C>T (p.Ser210Phe)
c.500C>T (p.Ser167Phe)
n.69+1908G>A
 gnomAD v4
17g.8121722G>CCA397987623HES7c.542C>G (p.Ser181Cys)
c.527C>G (p.Ser176Cys)
c.647C>G (p.Ser216Cys)
c.638C>G (p.Ser213Cys)
c.629C>G (p.Ser210Cys)
c.500C>G (p.Ser167Cys)
n.69+1908G>C
17g.8121722G>TCA397987626HES7c.542C>A (p.Ser181Tyr)
c.527C>A (p.Ser176Tyr)
c.647C>A (p.Ser216Tyr)
c.638C>A (p.Ser213Tyr)
c.629C>A (p.Ser210Tyr)
c.500C>A (p.Ser167Tyr)
n.69+1908G>T
 gnomAD v4
17g.8121723A>CCA397987629HES7c.541T>G (p.Ser181Ala)
c.526T>G (p.Ser176Ala)
c.646T>G (p.Ser216Ala)
c.637T>G (p.Ser213Ala)
c.628T>G (p.Ser210Ala)
c.499T>G (p.Ser167Ala)
n.69+1909A>C
17g.8121723A>GCA397987630HES7c.541T>C (p.Ser181Pro)
c.526T>C (p.Ser176Pro)
c.646T>C (p.Ser216Pro)
c.637T>C (p.Ser213Pro)
c.628T>C (p.Ser210Pro)
c.499T>C (p.Ser167Pro)
n.69+1909A>G
 gnomAD v4
17g.8121723A>TCA397987631HES7c.541T>A (p.Ser181Thr)
c.526T>A (p.Ser176Thr)
c.646T>A (p.Ser216Thr)
c.637T>A (p.Ser213Thr)
c.628T>A (p.Ser210Thr)
c.499T>A (p.Ser167Thr)
n.69+1909A>T
17g.8121724C>ACA397987632HES7c.540G>T (p.Trp180Cys)
c.525G>T (p.Trp175Cys)
c.645G>T (p.Trp215Cys)
c.636G>T (p.Trp212Cys)
c.627G>T (p.Trp209Cys)
c.498G>T (p.Trp166Cys)
n.69+1910C>A
 gnomAD v4
17g.8121724C>GCA397987633HES7c.540G>C (p.Trp180Cys)
c.525G>C (p.Trp175Cys)
c.645G>C (p.Trp215Cys)
c.636G>C (p.Trp212Cys)
c.627G>C (p.Trp209Cys)
c.498G>C (p.Trp166Cys)
n.69+1910C>G
17g.8121724C>TCA397987634HES7c.540G>A (p.Trp180Ter)
c.525G>A (p.Trp175Ter)
c.645G>A (p.Trp215Ter)
c.636G>A (p.Trp212Ter)
c.627G>A (p.Trp209Ter)
c.498G>A (p.Trp166Ter)
n.69+1910C>T
 gnomAD v4
17g.8121725C>ACA397987635HES7c.539G>T (p.Trp180Leu)
c.524G>T (p.Trp175Leu)
c.644G>T (p.Trp215Leu)
c.635G>T (p.Trp212Leu)
c.626G>T (p.Trp209Leu)
c.497G>T (p.Trp166Leu)
n.69+1911C>A
 gnomAD v4
17g.8121725C=CA2246160182HES7c.539G= (p.Trp180=)
c.524G= (p.Trp175=)
c.644G= (p.Trp215=)
c.635G= (p.Trp212=)
c.626G= (p.Trp209=)
c.497G= (p.Trp166=)
n.69+1911C=
17g.8121725C>GCA397987636HES7c.539G>C (p.Trp180Ser)
c.524G>C (p.Trp175Ser)
c.644G>C (p.Trp215Ser)
c.635G>C (p.Trp212Ser)
c.626G>C (p.Trp209Ser)
c.497G>C (p.Trp166Ser)
n.69+1911C>G
 dbSNP gnomAD v3 gnomAD v4
17g.8121725C>TCA397987637HES7c.539G>A (p.Trp180Ter)
c.524G>A (p.Trp175Ter)
c.644G>A (p.Trp215Ter)
c.635G>A (p.Trp212Ter)
c.626G>A (p.Trp209Ter)
c.497G>A (p.Trp166Ter)
n.69+1911C>T
 gnomAD v4
17g.8121726A>CCA397987642HES7c.538T>G (p.Trp180Gly)
c.523T>G (p.Trp175Gly)
c.643T>G (p.Trp215Gly)
c.634T>G (p.Trp212Gly)
c.625T>G (p.Trp209Gly)
c.496T>G (p.Trp166Gly)
n.69+1912A>C
 gnomAD v4
17g.8121726A>GCA397987639HES7c.538T>C (p.Trp180Arg)
c.523T>C (p.Trp175Arg)
c.643T>C (p.Trp215Arg)
c.634T>C (p.Trp212Arg)
c.625T>C (p.Trp209Arg)
c.496T>C (p.Trp166Arg)
n.69+1912A>G
 gnomAD v4
17g.8121726A>TCA397987640HES7c.538T>A (p.Trp180Arg)
c.523T>A (p.Trp175Arg)
c.643T>A (p.Trp215Arg)
c.634T>A (p.Trp212Arg)
c.625T>A (p.Trp209Arg)
c.496T>A (p.Trp166Arg)
n.69+1912A>T
17g.8121727T>ACA497955072HES7c.537A>T (p.Ala179=)
c.522A>T (p.Ala174=)
c.642A>T (p.Ala214=)
c.633A>T (p.Ala211=)
c.624A>T (p.Ala208=)
c.495A>T (p.Ala165=)
n.69+1913T>A
 gnomAD v4
17g.8121727T>CCA497955073HES7c.537A>G (p.Ala179=)
c.522A>G (p.Ala174=)
c.642A>G (p.Ala214=)
c.633A>G (p.Ala211=)
c.624A>G (p.Ala208=)
c.495A>G (p.Ala165=)
n.69+1913T>C
 gnomAD v4
17g.8121727T>GCA497955071HES7c.537A>C (p.Ala179=)
c.522A>C (p.Ala174=)
c.642A>C (p.Ala214=)
c.633A>C (p.Ala211=)
c.624A>C (p.Ala208=)
c.495A>C (p.Ala165=)
n.69+1913T>G
 dbSNP gnomAD v2 gnomAD v4
17g.8121727T=CA2246160185HES7c.537A= (p.Ala179=)
c.522A= (p.Ala174=)
c.642A= (p.Ala214=)
c.633A= (p.Ala211=)
c.624A= (p.Ala208=)
c.495A= (p.Ala165=)
n.69+1913T=
17g.8121728G>ACA397987645HES7c.536C>T (p.Ala179Val)
c.521C>T (p.Ala174Val)
c.641C>T (p.Ala214Val)
c.632C>T (p.Ala211Val)
c.623C>T (p.Ala208Val)
c.494C>T (p.Ala165Val)
n.69+1914G>A
 gnomAD v4
17g.8121728G>CCA397987647HES7c.536C>G (p.Ala179Gly)
c.521C>G (p.Ala174Gly)
c.641C>G (p.Ala214Gly)
c.632C>G (p.Ala211Gly)
c.623C>G (p.Ala208Gly)
c.494C>G (p.Ala165Gly)
n.69+1914G>C
17g.8121728G>TCA397987649HES7c.536C>A (p.Ala179Glu)
c.521C>A (p.Ala174Glu)
c.641C>A (p.Ala214Glu)
c.632C>A (p.Ala211Glu)
c.623C>A (p.Ala208Glu)
c.494C>A (p.Ala165Glu)
n.69+1914G>T
 gnomAD v4
17g.8121729C>ACA397987652HES7c.535G>T (p.Ala179Ser)
c.520G>T (p.Ala174Ser)
c.640G>T (p.Ala214Ser)
c.631G>T (p.Ala211Ser)
c.622G>T (p.Ala208Ser)
c.493G>T (p.Ala165Ser)
n.69+1915C>A
 dbSNP gnomAD v3 gnomAD v4
17g.8121729C=CA2246160188HES7c.535G= (p.Ala179=)
c.520G= (p.Ala174=)
c.640G= (p.Ala214=)
c.631G= (p.Ala211=)
c.622G= (p.Ala208=)
c.493G= (p.Ala165=)
n.69+1915C=
17g.8121729C>GCA397987654HES7c.535G>C (p.Ala179Pro)
c.520G>C (p.Ala174Pro)
c.640G>C (p.Ala214Pro)
c.631G>C (p.Ala211Pro)
c.622G>C (p.Ala208Pro)
c.493G>C (p.Ala165Pro)
n.69+1915C>G
17g.8121729C>TCA397987656HES7c.535G>A (p.Ala179Thr)
c.520G>A (p.Ala174Thr)
c.640G>A (p.Ala214Thr)
c.631G>A (p.Ala211Thr)
c.622G>A (p.Ala208Thr)
c.493G>A (p.Ala165Thr)
n.69+1915C>T
 dbSNP gnomAD v3 gnomAD v4
17g.8121730G>ACA497955082HES7c.534C>T (p.Cys178=)
c.519C>T (p.Cys173=)
c.639C>T (p.Cys213=)
c.630C>T (p.Cys210=)
c.621C>T (p.Cys207=)
c.492C>T (p.Cys164=)
n.69+1916G>A
 dbSNP gnomAD v2 gnomAD v4
17g.8121730G>CCA397987658HES7c.534C>G (p.Cys178Trp)
c.519C>G (p.Cys173Trp)
c.639C>G (p.Cys213Trp)
c.630C>G (p.Cys210Trp)
c.621C>G (p.Cys207Trp)
c.492C>G (p.Cys164Trp)
n.69+1916G>C
17g.8121730G=CA2246160190HES7c.534C= (p.Cys178=)
c.519C= (p.Cys173=)
c.639C= (p.Cys213=)
c.630C= (p.Cys210=)
c.621C= (p.Cys207=)
c.492C= (p.Cys164=)
n.69+1916G=
17g.8121730G>TCA397987659HES7c.534C>A (p.Cys178Ter)
c.519C>A (p.Cys173Ter)
c.639C>A (p.Cys213Ter)
c.630C>A (p.Cys210Ter)
c.621C>A (p.Cys207Ter)
c.492C>A (p.Cys164Ter)
n.69+1916G>T
 gnomAD v4
17g.8121731C>ACA397987662HES7c.533G>T (p.Cys178Phe)
c.518G>T (p.Cys173Phe)
c.638G>T (p.Cys213Phe)
c.629G>T (p.Cys210Phe)
c.620G>T (p.Cys207Phe)
c.491G>T (p.Cys164Phe)
n.69+1917C>A
 gnomAD v4
17g.8121731C>GCA397987665HES7c.533G>C (p.Cys178Ser)
c.518G>C (p.Cys173Ser)
c.638G>C (p.Cys213Ser)
c.629G>C (p.Cys210Ser)
c.620G>C (p.Cys207Ser)
c.491G>C (p.Cys164Ser)
n.69+1917C>G
17g.8121731C>TCA397987667HES7c.533G>A (p.Cys178Tyr)
c.518G>A (p.Cys173Tyr)
c.638G>A (p.Cys213Tyr)
c.629G>A (p.Cys210Tyr)
c.620G>A (p.Cys207Tyr)
c.491G>A (p.Cys164Tyr)
n.69+1917C>T
 gnomAD v4
17g.8121732A>CCA397987676HES7c.532T>G (p.Cys178Gly)
c.517T>G (p.Cys173Gly)
c.637T>G (p.Cys213Gly)
c.628T>G (p.Cys210Gly)
c.619T>G (p.Cys207Gly)
c.490T>G (p.Cys164Gly)
n.69+1918A>C
17g.8121732A>GCA397987675HES7c.532T>C (p.Cys178Arg)
c.517T>C (p.Cys173Arg)
c.637T>C (p.Cys213Arg)
c.628T>C (p.Cys210Arg)
c.619T>C (p.Cys207Arg)
c.490T>C (p.Cys164Arg)
n.69+1918A>G
 gnomAD v4
17g.8121732A>TCA397987672HES7c.532T>A (p.Cys178Ser)
c.517T>A (p.Cys173Ser)
c.637T>A (p.Cys213Ser)
c.628T>A (p.Cys210Ser)
c.619T>A (p.Cys207Ser)
c.490T>A (p.Cys164Ser)
n.69+1918A>T
17g.8121733G>ACA497955087HES7c.531C>T (p.Arg177=)
c.516C>T (p.Arg172=)
c.636C>T (p.Arg212=)
c.627C>T (p.Arg209=)
c.618C>T (p.Arg206=)
c.489C>T (p.Arg163=)
n.69+1919G>A
 gnomAD v4
17g.8121733G>CCA497955089HES7c.531C>G (p.Arg177=)
c.516C>G (p.Arg172=)
c.636C>G (p.Arg212=)
c.627C>G (p.Arg209=)
c.618C>G (p.Arg206=)
c.489C>G (p.Arg163=)
n.69+1919G>C
 gnomAD v4
17g.8121733G>TCA497955088HES7c.531C>A (p.Arg177=)
c.516C>A (p.Arg172=)
c.636C>A (p.Arg212=)
c.627C>A (p.Arg209=)
c.618C>A (p.Arg206=)
c.489C>A (p.Arg163=)
n.69+1919G>T
 gnomAD v4
17g.8121734C>ACA397987677HES7c.530G>T (p.Arg177Leu)
c.515G>T (p.Arg172Leu)
c.635G>T (p.Arg212Leu)
c.626G>T (p.Arg209Leu)
c.617G>T (p.Arg206Leu)
c.488G>T (p.Arg163Leu)
n.69+1920C>A
 gnomAD v4
17g.8121734C=CA2246160192HES7c.530G= (p.Arg177=)
c.515G= (p.Arg172=)
c.635G= (p.Arg212=)
c.626G= (p.Arg209=)
c.617G= (p.Arg206=)
c.488G= (p.Arg163=)
n.69+1920C=
17g.8121734C>GCA8368617HES7c.530G>C (p.Arg177Pro)
c.515G>C (p.Arg172Pro)
c.635G>C (p.Arg212Pro)
c.626G>C (p.Arg209Pro)
c.617G>C (p.Arg206Pro)
c.488G>C (p.Arg163Pro)
n.69+1920C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8121734C>TCA397987680HES7c.530G>A (p.Arg177His)
c.515G>A (p.Arg172His)
c.635G>A (p.Arg212His)
c.626G>A (p.Arg209His)
c.617G>A (p.Arg206His)
c.488G>A (p.Arg163His)
n.69+1920C>T
 gnomAD v4
17g.8121735G>ACA397987683HES7c.529C>T (p.Arg177Cys)
c.514C>T (p.Arg172Cys)
c.634C>T (p.Arg212Cys)
c.625C>T (p.Arg209Cys)
c.616C>T (p.Arg206Cys)
c.487C>T (p.Arg163Cys)
n.69+1921G>A
 gnomAD v4
17g.8121735G>CCA397987686HES7c.529C>G (p.Arg177Gly)
c.514C>G (p.Arg172Gly)
c.634C>G (p.Arg212Gly)
c.625C>G (p.Arg209Gly)
c.616C>G (p.Arg206Gly)
c.487C>G (p.Arg163Gly)
n.69+1921G>C
17g.8121735G=CA2246160197HES7c.529C= (p.Arg177=)
c.514C= (p.Arg172=)
c.634C= (p.Arg212=)
c.625C= (p.Arg209=)
c.616C= (p.Arg206=)
c.487C= (p.Arg163=)
n.69+1921G=
17g.8121735G>TCA397987689HES7c.529C>A (p.Arg177Ser)
c.514C>A (p.Arg172Ser)
c.634C>A (p.Arg212Ser)
c.625C>A (p.Arg209Ser)
c.616C>A (p.Arg206Ser)
c.487C>A (p.Arg163Ser)
n.69+1921G>T
 dbSNP gnomAD v2 gnomAD v4
17g.8121736C>ACA497955093HES7c.528G>T (p.Pro176=)
c.513G>T (p.Pro171=)
c.633G>T (p.Pro211=)
c.624G>T (p.Pro208=)
c.615G>T (p.Pro205=)
c.486G>T (p.Pro162=)
n.69+1922C>A
 gnomAD v4
17g.8121736C=CA2246160201HES7c.528G= (p.Pro176=)
c.513G= (p.Pro171=)
c.633G= (p.Pro211=)
c.624G= (p.Pro208=)
c.615G= (p.Pro205=)
c.486G= (p.Pro162=)
n.69+1922C=
17g.8121736C>GCA497955094HES7c.528G>C (p.Pro176=)
c.513G>C (p.Pro171=)
c.633G>C (p.Pro211=)
c.624G>C (p.Pro208=)
c.615G>C (p.Pro205=)
c.486G>C (p.Pro162=)
n.69+1922C>G
 gnomAD v4
17g.8121736C>TCA497955095HES7c.528G>A (p.Pro176=)
c.513G>A (p.Pro171=)
c.633G>A (p.Pro211=)
c.624G>A (p.Pro208=)
c.615G>A (p.Pro205=)
c.486G>A (p.Pro162=)
n.69+1922C>T
 dbSNP gnomAD v4
17g.8121737G>ACA397987692HES7c.527C>T (p.Pro176Leu)
c.512C>T (p.Pro171Leu)
c.632C>T (p.Pro211Leu)
c.623C>T (p.Pro208Leu)
c.614C>T (p.Pro205Leu)
c.485C>T (p.Pro162Leu)
n.69+1923G>A
 dbSNP gnomAD v3 gnomAD v4
17g.8121737G>CCA397987694HES7c.527C>G (p.Pro176Arg)
c.512C>G (p.Pro171Arg)
c.632C>G (p.Pro211Arg)
c.623C>G (p.Pro208Arg)
c.614C>G (p.Pro205Arg)
c.485C>G (p.Pro162Arg)
n.69+1923G>C
17g.8121737G=CA2246160206HES7c.527C= (p.Pro176=)
c.512C= (p.Pro171=)
c.632C= (p.Pro211=)
c.623C= (p.Pro208=)
c.614C= (p.Pro205=)
c.485C= (p.Pro162=)
n.69+1923G=
17g.8121737G>TCA397987696HES7c.527C>A (p.Pro176Gln)
c.512C>A (p.Pro171Gln)
c.632C>A (p.Pro211Gln)
c.623C>A (p.Pro208Gln)
c.614C>A (p.Pro205Gln)
c.485C>A (p.Pro162Gln)
n.69+1923G>T
 gnomAD v4
17g.8121738G>ACA287537106HES7c.526C>T (p.Pro176Ser)
c.511C>T (p.Pro171Ser)
c.631C>T (p.Pro211Ser)
c.622C>T (p.Pro208Ser)
c.613C>T (p.Pro205Ser)
c.484C>T (p.Pro162Ser)
n.69+1924G>A
 dbSNP gnomAD v2 gnomAD v4
17g.8121738G>CCA397987701HES7c.526C>G (p.Pro176Ala)
c.511C>G (p.Pro171Ala)
c.631C>G (p.Pro211Ala)
c.622C>G (p.Pro208Ala)
c.613C>G (p.Pro205Ala)
c.484C>G (p.Pro162Ala)
n.69+1924G>C
17g.8121738G=CA2246160209HES7c.526C= (p.Pro176=)
c.511C= (p.Pro171=)
c.631C= (p.Pro211=)
c.622C= (p.Pro208=)
c.613C= (p.Pro205=)
c.484C= (p.Pro162=)
n.69+1924G=
17g.8121738G>TCA397987704HES7c.526C>A (p.Pro176Thr)
c.511C>A (p.Pro171Thr)
c.631C>A (p.Pro211Thr)
c.622C>A (p.Pro208Thr)
c.613C>A (p.Pro205Thr)
c.484C>A (p.Pro162Thr)
n.69+1924G>T
 gnomAD v4
17g.8121739G>ACA497955100HES7c.525C>T (p.Ser175=)
c.510C>T (p.Ser170=)
c.630C>T (p.Ser210=)
c.621C>T (p.Ser207=)
c.612C>T (p.Ser204=)
c.483C>T (p.Ser161=)
n.69+1925G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.8121739G>CCA397987706HES7c.525C>G (p.Ser175Arg)
c.510C>G (p.Ser170Arg)
c.630C>G (p.Ser210Arg)
c.621C>G (p.Ser207Arg)
c.612C>G (p.Ser204Arg)
c.483C>G (p.Ser161Arg)
n.69+1925G>C
 gnomAD v4
17g.8121739G=CA2246160212HES7c.525C= (p.Ser175=)
c.510C= (p.Ser170=)
c.630C= (p.Ser210=)
c.621C= (p.Ser207=)
c.612C= (p.Ser204=)
c.483C= (p.Ser161=)
n.69+1925G=
17g.8121739G>TCA397987708HES7c.525C>A (p.Ser175Arg)
c.510C>A (p.Ser170Arg)
c.630C>A (p.Ser210Arg)
c.621C>A (p.Ser207Arg)
c.612C>A (p.Ser204Arg)
c.483C>A (p.Ser161Arg)
n.69+1925G>T
 gnomAD v4
17g.8121740C>ACA397987717HES7c.524G>T (p.Ser175Ile)
c.509G>T (p.Ser170Ile)
c.629G>T (p.Ser210Ile)
c.620G>T (p.Ser207Ile)
c.611G>T (p.Ser204Ile)
c.482G>T (p.Ser161Ile)
n.69+1926C>A
 gnomAD v4
17g.8121740C>GCA397987716HES7c.524G>C (p.Ser175Thr)
c.509G>C (p.Ser170Thr)
c.629G>C (p.Ser210Thr)
c.620G>C (p.Ser207Thr)
c.611G>C (p.Ser204Thr)
c.482G>C (p.Ser161Thr)
n.69+1926C>G
 gnomAD v4
17g.8121740C>TCA397987713HES7c.524G>A (p.Ser175Asn)
c.509G>A (p.Ser170Asn)
c.629G>A (p.Ser210Asn)
c.620G>A (p.Ser207Asn)
c.611G>A (p.Ser204Asn)
c.482G>A (p.Ser161Asn)
n.69+1926C>T
 gnomAD v4
17g.8121741T>ACA397987722HES7c.523A>T (p.Ser175Cys)
c.508A>T (p.Ser170Cys)
c.628A>T (p.Ser210Cys)
c.619A>T (p.Ser207Cys)
c.610A>T (p.Ser204Cys)
c.481A>T (p.Ser161Cys)
n.69+1927T>A
17g.8121741T>CCA397987724HES7c.523A>G (p.Ser175Gly)
c.508A>G (p.Ser170Gly)
c.628A>G (p.Ser210Gly)
c.619A>G (p.Ser207Gly)
c.610A>G (p.Ser204Gly)
c.481A>G (p.Ser161Gly)
n.69+1927T>C
 gnomAD v4
17g.8121741T>GCA397987726HES7c.523A>C (p.Ser175Arg)
c.508A>C (p.Ser170Arg)
c.628A>C (p.Ser210Arg)
c.619A>C (p.Ser207Arg)
c.610A>C (p.Ser204Arg)
c.481A>C (p.Ser161Arg)
n.69+1927T>G
17g.8121742A>CCA497955103HES7c.522T>G (p.Pro174=)
c.507T>G (p.Pro169=)
c.627T>G (p.Pro209=)
c.618T>G (p.Pro206=)
c.609T>G (p.Pro203=)
c.480T>G (p.Pro160=)
n.69+1928A>C
17g.8121742A>GCA497955104HES7c.522T>C (p.Pro174=)
c.507T>C (p.Pro169=)
c.627T>C (p.Pro209=)
c.618T>C (p.Pro206=)
c.609T>C (p.Pro203=)
c.480T>C (p.Pro160=)
n.69+1928A>G
 gnomAD v4
17g.8121742A>TCA497955105HES7c.522T>A (p.Pro174=)
c.507T>A (p.Pro169=)
c.627T>A (p.Pro209=)
c.618T>A (p.Pro206=)
c.609T>A (p.Pro203=)
c.480T>A (p.Pro160=)
n.69+1928A>T
17g.8121743G>ACA8368618HES7c.521C>T (p.Pro174Leu)
c.506C>T (p.Pro169Leu)
c.626C>T (p.Pro209Leu)
c.617C>T (p.Pro206Leu)
c.608C>T (p.Pro203Leu)
c.479C>T (p.Pro160Leu)
n.69+1929G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8121743G>CCA397987729HES7c.521C>G (p.Pro174Arg)
c.506C>G (p.Pro169Arg)
c.626C>G (p.Pro209Arg)
c.617C>G (p.Pro206Arg)
c.608C>G (p.Pro203Arg)
c.479C>G (p.Pro160Arg)
n.69+1929G>C
17g.8121743G=CA2246160215HES7c.521C= (p.Pro174=)
c.506C= (p.Pro169=)
c.626C= (p.Pro209=)
c.617C= (p.Pro206=)
c.608C= (p.Pro203=)
c.479C= (p.Pro160=)
n.69+1929G=
17g.8121743G>TCA397987732HES7c.521C>A (p.Pro174His)
c.506C>A (p.Pro169His)
c.626C>A (p.Pro209His)
c.617C>A (p.Pro206His)
c.608C>A (p.Pro203His)
c.479C>A (p.Pro160His)
n.69+1929G>T
 gnomAD v4
17g.8121746_8121763delCA2576161671HES7c.504_521del (p.Val169_Pro174del)
c.489_506del (p.Val164_Pro169del)
c.609_626del (p.Val204_Pro209del)
c.600_617del (p.Val201_Pro206del)
c.591_608del (p.Val198_Pro203del)
c.462_479del (p.Val155_Pro160del)
n.69+1932_69+1949del
 gnomAD v4
17g.8121744G>ACA397987734HES7c.520C>T (p.Pro174Ser)
c.505C>T (p.Pro169Ser)
c.625C>T (p.Pro209Ser)
c.616C>T (p.Pro206Ser)
c.607C>T (p.Pro203Ser)
c.478C>T (p.Pro160Ser)
n.69+1930G>A
17g.8121744G>CCA397987737HES7c.520C>G (p.Pro174Ala)
c.505C>G (p.Pro169Ala)
c.625C>G (p.Pro209Ala)
c.616C>G (p.Pro206Ala)
c.607C>G (p.Pro203Ala)
c.478C>G (p.Pro160Ala)
n.69+1930G>C
 gnomAD v4
17g.8121744G>TCA397987740HES7c.520C>A (p.Pro174Thr)
c.505C>A (p.Pro169Thr)
c.625C>A (p.Pro209Thr)
c.616C>A (p.Pro206Thr)
c.607C>A (p.Pro203Thr)
c.478C>A (p.Pro160Thr)
n.69+1930G>T
 gnomAD v4
17g.8121748_8121756dupCA2246160218HES7c.512_520dup (p.His173_Pro174insGlnGlyHis)
c.497_505dup (p.His168_Pro169insGlnGlyHis)
c.617_625dup (p.His208_Pro209insGlnGlyHis)
c.608_616dup (p.His205_Pro206insGlnGlyHis)
c.599_607dup (p.His202_Pro203insGlnGlyHis)
c.470_478dup (p.His159_Pro160insGlnGlyHis)
n.69+1934_69+1942dup
 dbSNP gnomAD v4
17g.8121745G>ACA497955110HES7c.519C>T (p.His173=)
c.504C>T (p.His168=)
c.624C>T (p.His208=)
c.615C>T (p.His205=)
c.606C>T (p.His202=)
c.477C>T (p.His159=)
n.69+1931G>A
 gnomAD v4
17g.8121745G>CCA397987743HES7c.519C>G (p.His173Gln)
c.504C>G (p.His168Gln)
c.624C>G (p.His208Gln)
c.615C>G (p.His205Gln)
c.606C>G (p.His202Gln)
c.477C>G (p.His159Gln)
n.69+1931G>C
17g.8121745G=CA2246160221HES7c.519C= (p.His173=)
c.504C= (p.His168=)
c.624C= (p.His208=)
c.615C= (p.His205=)
c.606C= (p.His202=)
c.477C= (p.His159=)
n.69+1931G=
17g.8121745G>TCA397987744HES7c.519C>A (p.His173Gln)
c.504C>A (p.His168Gln)
c.624C>A (p.His208Gln)
c.615C>A (p.His205Gln)
c.606C>A (p.His202Gln)
c.477C>A (p.His159Gln)
n.69+1931G>T
 dbSNP gnomAD v2 gnomAD v4
17g.8121746T>ACA397987752HES7c.518A>T (p.His173Leu)
c.503A>T (p.His168Leu)
c.623A>T (p.His208Leu)
c.614A>T (p.His205Leu)
c.605A>T (p.His202Leu)
c.476A>T (p.His159Leu)
n.69+1932T>A
17g.8121746T>CCA397987749HES7c.518A>G (p.His173Arg)
c.503A>G (p.His168Arg)
c.623A>G (p.His208Arg)
c.614A>G (p.His205Arg)
c.605A>G (p.His202Arg)
c.476A>G (p.His159Arg)
n.69+1932T>C
17g.8121746T>GCA397987747HES7c.518A>C (p.His173Pro)
c.503A>C (p.His168Pro)
c.623A>C (p.His208Pro)
c.614A>C (p.His205Pro)
c.605A>C (p.His202Pro)
c.476A>C (p.His159Pro)
n.69+1932T>G
 dbSNP
17g.8121747G>ACA397987756HES7c.517C>T (p.His173Tyr)
c.502C>T (p.His168Tyr)
c.622C>T (p.His208Tyr)
c.613C>T (p.His205Tyr)
c.604C>T (p.His202Tyr)
c.475C>T (p.His159Tyr)
n.69+1933G>A
17g.8121747G>CCA397987758HES7c.517C>G (p.His173Asp)
c.502C>G (p.His168Asp)
c.622C>G (p.His208Asp)
c.613C>G (p.His205Asp)
c.604C>G (p.His202Asp)
c.475C>G (p.His159Asp)
n.69+1933G>C
17g.8121747G>TCA397987760HES7c.517C>A (p.His173Asn)
c.502C>A (p.His168Asn)
c.622C>A (p.His208Asn)
c.613C>A (p.His205Asn)
c.604C>A (p.His202Asn)
c.475C>A (p.His159Asn)
n.69+1933G>T
 gnomAD v4
17g.8121748G>ACA497955117HES7c.516C>T (p.Gly172=)
c.501C>T (p.Gly167=)
c.621C>T (p.Gly207=)
c.612C>T (p.Gly204=)
c.603C>T (p.Gly201=)
c.474C>T (p.Gly158=)
n.69+1934G>A
 gnomAD v4
17g.8121748G>CCA497955115HES7c.516C>G (p.Gly172=)
c.501C>G (p.Gly167=)
c.621C>G (p.Gly207=)
c.612C>G (p.Gly204=)
c.603C>G (p.Gly201=)
c.474C>G (p.Gly158=)
n.69+1934G>C
17g.8121748G>TCA497955113HES7c.516C>A (p.Gly172=)
c.501C>A (p.Gly167=)
c.621C>A (p.Gly207=)
c.612C>A (p.Gly204=)
c.603C>A (p.Gly201=)
c.474C>A (p.Gly158=)
n.69+1934G>T
 gnomAD v4
17g.8121749C>ACA397987762HES7c.515G>T (p.Gly172Val)
c.500G>T (p.Gly167Val)
c.620G>T (p.Gly207Val)
c.611G>T (p.Gly204Val)
c.602G>T (p.Gly201Val)
c.473G>T (p.Gly158Val)
n.69+1935C>A
 gnomAD v4
17g.8121749C=CA2246160224HES7c.515G= (p.Gly172=)
c.500G= (p.Gly167=)
c.620G= (p.Gly207=)
c.611G= (p.Gly204=)
c.602G= (p.Gly201=)
c.473G= (p.Gly158=)
n.69+1935C=
17g.8121749C>GCA8368619HES7c.515G>C (p.Gly172Ala)
c.500G>C (p.Gly167Ala)
c.620G>C (p.Gly207Ala)
c.611G>C (p.Gly204Ala)
c.602G>C (p.Gly201Ala)
c.473G>C (p.Gly158Ala)
n.69+1935C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.8121749C>TCA397987765HES7c.515G>A (p.Gly172Asp)
c.500G>A (p.Gly167Asp)
c.620G>A (p.Gly207Asp)
c.611G>A (p.Gly204Asp)
c.602G>A (p.Gly201Asp)
c.473G>A (p.Gly158Asp)
n.69+1935C>T
 gnomAD v4
17g.8121750C>ACA397987774HES7c.514G>T (p.Gly172Cys)
c.499G>T (p.Gly167Cys)
c.619G>T (p.Gly207Cys)
c.610G>T (p.Gly204Cys)
c.601G>T (p.Gly201Cys)
c.472G>T (p.Gly158Cys)
n.69+1936C>A
 gnomAD v4
17g.8121750C=CA2246160229HES7c.514G= (p.Gly172=)
c.499G= (p.Gly167=)
c.619G= (p.Gly207=)
c.610G= (p.Gly204=)
c.601G= (p.Gly201=)
c.472G= (p.Gly158=)
n.69+1936C=
17g.8121750C>GCA397987770HES7c.514G>C (p.Gly172Arg)
c.499G>C (p.Gly167Arg)
c.619G>C (p.Gly207Arg)
c.610G>C (p.Gly204Arg)
c.601G>C (p.Gly201Arg)
c.472G>C (p.Gly158Arg)
n.69+1936C>G
 gnomAD v4
17g.8121750C>TCA397987772HES7c.514G>A (p.Gly172Ser)
c.499G>A (p.Gly167Ser)
c.619G>A (p.Gly207Ser)
c.610G>A (p.Gly204Ser)
c.601G>A (p.Gly201Ser)
c.472G>A (p.Gly158Ser)
n.69+1936C>T
 dbSNP gnomAD v4
17g.8121751C>ACA397987778HES7c.513G>T (p.Gln171His)
c.498G>T (p.Gln166His)
c.618G>T (p.Gln206His)
c.609G>T (p.Gln203His)
c.600G>T (p.Gln200His)
c.471G>T (p.Gln157His)
n.69+1937C>A
 gnomAD v4
17g.8121751C=CA2246160235HES7c.513G= (p.Gln171=)
c.498G= (p.Gln166=)
c.618G= (p.Gln206=)
c.609G= (p.Gln203=)
c.600G= (p.Gln200=)
c.471G= (p.Gln157=)
n.69+1937C=
17g.8121751C>GCA397987780HES7c.513G>C (p.Gln171His)
c.498G>C (p.Gln166His)
c.618G>C (p.Gln206His)
c.609G>C (p.Gln203His)
c.600G>C (p.Gln200His)
c.471G>C (p.Gln157His)
n.69+1937C>G
 dbSNP gnomAD v3 gnomAD v4
17g.8121751C>TCA497955123HES7c.513G>A (p.Gln171=)
c.498G>A (p.Gln166=)
c.618G>A (p.Gln206=)
c.609G>A (p.Gln203=)
c.600G>A (p.Gln200=)
c.471G>A (p.Gln157=)
n.69+1937C>T
 gnomAD v4
17g.8121759_8121776delCA2576161672HES7c.496_513del (p.Arg166_Gln171del)
c.481_498del (p.Arg161_Gln166del)
c.601_618del (p.Arg201_Gln206del)
c.592_609del (p.Arg198_Gln203del)
c.583_600del (p.Arg195_Gln200del)
c.454_471del (p.Arg152_Gln157del)
n.69+1945_69+1962del
 gnomAD v4
17g.8121752T>ACA397987784HES7c.512A>T (p.Gln171Leu)
c.497A>T (p.Gln166Leu)
c.617A>T (p.Gln206Leu)
c.608A>T (p.Gln203Leu)
c.599A>T (p.Gln200Leu)
c.470A>T (p.Gln157Leu)
n.69+1938T>A
17g.8121752T>CCA397987786HES7c.512A>G (p.Gln171Arg)
c.497A>G (p.Gln166Arg)
c.617A>G (p.Gln206Arg)
c.608A>G (p.Gln203Arg)
c.599A>G (p.Gln200Arg)
c.470A>G (p.Gln157Arg)
n.69+1938T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8121752T>GCA397987787HES7c.512A>C (p.Gln171Pro)
c.497A>C (p.Gln166Pro)
c.617A>C (p.Gln206Pro)
c.608A>C (p.Gln203Pro)
c.599A>C (p.Gln200Pro)
c.470A>C (p.Gln157Pro)
n.69+1938T>G
 gnomAD v4
17g.8121752T=CA2246160236HES7c.512A= (p.Gln171=)
c.497A= (p.Gln166=)
c.617A= (p.Gln206=)
c.608A= (p.Gln203=)
c.599A= (p.Gln200=)
c.470A= (p.Gln157=)
n.69+1938T=
17g.8121753G>ACA397987791HES7c.511C>T (p.Gln171Ter)
c.496C>T (p.Gln166Ter)
c.616C>T (p.Gln206Ter)
c.607C>T (p.Gln203Ter)
c.598C>T (p.Gln200Ter)
c.469C>T (p.Gln157Ter)
n.69+1939G>A
 dbSNP gnomAD v4
17g.8121753G>CCA397987793HES7c.511C>G (p.Gln171Glu)
c.496C>G (p.Gln166Glu)
c.616C>G (p.Gln206Glu)
c.607C>G (p.Gln203Glu)
c.598C>G (p.Gln200Glu)
c.469C>G (p.Gln157Glu)
n.69+1939G>C
17g.8121753G=CA2246160240HES7c.511C= (p.Gln171=)
c.496C= (p.Gln166=)
c.616C= (p.Gln206=)
c.607C= (p.Gln203=)
c.598C= (p.Gln200=)
c.469C= (p.Gln157=)
n.69+1939G=
17g.8121753G>TCA287537129HES7c.511C>A (p.Gln171Lys)
c.496C>A (p.Gln166Lys)
c.616C>A (p.Gln206Lys)
c.607C>A (p.Gln203Lys)
c.598C>A (p.Gln200Lys)
c.469C>A (p.Gln157Lys)
n.69+1939G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8121754delCA2635937240HES7c.511del (p.Gln171ArgfsTer?)
c.496del (p.Gln166ArgfsTer?)
c.616del (p.Gln206ArgfsTer?)
c.607del (p.Gln203ArgfsTer?)
c.598del (p.Gln200ArgfsTer?)
c.469del (p.Gln157ArgfsTer?)
n.69+1940del
 gnomAD v4
17g.8121754G>ACA497955128HES7c.510C>T (p.His170=)
c.495C>T (p.His165=)
c.615C>T (p.His205=)
c.606C>T (p.His202=)
c.597C>T (p.His199=)
c.468C>T (p.His156=)
n.69+1940G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8121754G>CCA397987796HES7c.510C>G (p.His170Gln)
c.495C>G (p.His165Gln)
c.615C>G (p.His205Gln)
c.606C>G (p.His202Gln)
c.597C>G (p.His199Gln)
c.468C>G (p.His156Gln)
n.69+1940G>C
 dbSNP
17g.8121754G=CA2246160245HES7c.510C= (p.His170=)
c.495C= (p.His165=)
c.615C= (p.His205=)
c.606C= (p.His202=)
c.597C= (p.His199=)
c.468C= (p.His156=)
n.69+1940G=
17g.8121754G>TCA397987799HES7c.510C>A (p.His170Gln)
c.495C>A (p.His165Gln)
c.615C>A (p.His205Gln)
c.606C>A (p.His202Gln)
c.597C>A (p.His199Gln)
c.468C>A (p.His156Gln)
n.69+1940G>T
 gnomAD v4
17g.8121755T>ACA397987804HES7c.509A>T (p.His170Leu)
c.494A>T (p.His165Leu)
c.614A>T (p.His205Leu)
c.605A>T (p.His202Leu)
c.596A>T (p.His199Leu)
c.467A>T (p.His156Leu)
n.69+1941T>A
 gnomAD v4
17g.8121755T>CCA397987805HES7c.509A>G (p.His170Arg)
c.494A>G (p.His165Arg)
c.614A>G (p.His205Arg)
c.605A>G (p.His202Arg)
c.596A>G (p.His199Arg)
c.467A>G (p.His156Arg)
n.69+1941T>C
 gnomAD v4
17g.8121755T>GCA397987807HES7c.509A>C (p.His170Pro)
c.494A>C (p.His165Pro)
c.614A>C (p.His205Pro)
c.605A>C (p.His202Pro)
c.596A>C (p.His199Pro)
c.467A>C (p.His156Pro)
n.69+1941T>G
 gnomAD v4
17g.8121756G>ACA397987809HES7c.508C>T (p.His170Tyr)
c.493C>T (p.His165Tyr)
c.613C>T (p.His205Tyr)
c.604C>T (p.His202Tyr)
c.595C>T (p.His199Tyr)
c.466C>T (p.His156Tyr)
n.69+1942G>A
 gnomAD v4
17g.8121756G>CCA397987811HES7c.508C>G (p.His170Asp)
c.493C>G (p.His165Asp)
c.613C>G (p.His205Asp)
c.604C>G (p.His202Asp)
c.595C>G (p.His199Asp)
c.466C>G (p.His156Asp)
n.69+1942G>C
17g.8121756G>TCA397987814HES7c.508C>A (p.His170Asn)
c.493C>A (p.His165Asn)
c.613C>A (p.His205Asn)
c.604C>A (p.His202Asn)
c.595C>A (p.His199Asn)
c.466C>A (p.His156Asn)
n.69+1942G>T
 gnomAD v4
17g.8121757C>ACA497955132HES7c.507G>T (p.Val169=)
c.492G>T (p.Val164=)
c.612G>T (p.Val204=)
c.603G>T (p.Val201=)
c.594G>T (p.Val198=)
c.465G>T (p.Val155=)
n.69+1943C>A
 gnomAD v4
17g.8121757C>GCA497955134HES7c.507G>C (p.Val169=)
c.492G>C (p.Val164=)
c.612G>C (p.Val204=)
c.603G>C (p.Val201=)
c.594G>C (p.Val198=)
c.465G>C (p.Val155=)
n.69+1943C>G
17g.8121757C>TCA497955135HES7c.507G>A (p.Val169=)
c.492G>A (p.Val164=)
c.612G>A (p.Val204=)
c.603G>A (p.Val201=)
c.594G>A (p.Val198=)
c.465G>A (p.Val155=)
n.69+1943C>T
 gnomAD v4
17g.8121758A>CCA397987817HES7c.506T>G (p.Val169Gly)
c.491T>G (p.Val164Gly)
c.611T>G (p.Val204Gly)
c.602T>G (p.Val201Gly)
c.593T>G (p.Val198Gly)
c.464T>G (p.Val155Gly)
n.69+1944A>C
17g.8121758A>GCA397987819HES7c.506T>C (p.Val169Ala)
c.491T>C (p.Val164Ala)
c.611T>C (p.Val204Ala)
c.602T>C (p.Val201Ala)
c.593T>C (p.Val198Ala)
c.464T>C (p.Val155Ala)
n.69+1944A>G
 gnomAD v4
17g.8121758A>TCA397987822HES7c.506T>A (p.Val169Glu)
c.491T>A (p.Val164Glu)
c.611T>A (p.Val204Glu)
c.602T>A (p.Val201Glu)
c.593T>A (p.Val198Glu)
c.464T>A (p.Val155Glu)
n.69+1944A>T
17g.8121759C>ACA397987828HES7c.505G>T (p.Val169Leu)
c.490G>T (p.Val164Leu)
c.610G>T (p.Val204Leu)
c.601G>T (p.Val201Leu)
c.592G>T (p.Val198Leu)
c.463G>T (p.Val155Leu)
n.69+1945C>A
 gnomAD v4
17g.8121759C>GCA397987831HES7c.505G>C (p.Val169Leu)
c.490G>C (p.Val164Leu)
c.610G>C (p.Val204Leu)
c.601G>C (p.Val201Leu)
c.592G>C (p.Val198Leu)
c.463G>C (p.Val155Leu)
n.69+1945C>G
 gnomAD v4
17g.8121759C>TCA397987826HES7c.505G>A (p.Val169Met)
c.490G>A (p.Val164Met)
c.610G>A (p.Val204Met)
c.601G>A (p.Val201Met)
c.592G>A (p.Val198Met)
c.463G>A (p.Val155Met)
n.69+1945C>T
 gnomAD v4
17g.8121759_8121761delinsCTGCA2246160251HES7c.503_505delinsCAG (p.Pro168=)
c.488_490delinsCAG (p.Pro163=)
c.608_610delinsCAG (p.Pro203=)
c.599_601delinsCAG (p.Pro200=)
c.590_592delinsCAG (p.Pro197=)
c.461_463delinsCAG (p.Pro154=)
n.69+1945_69+1947delinsCTG
17g.8121760T>ACA497955138HES7c.504A>T (p.Pro168=)
c.489A>T (p.Pro163=)
c.609A>T (p.Pro203=)
c.600A>T (p.Pro200=)
c.591A>T (p.Pro197=)
c.462A>T (p.Pro154=)
n.69+1946T>A
17g.8121760T>CCA497955140HES7c.504A>G (p.Pro168=)
c.489A>G (p.Pro163=)
c.609A>G (p.Pro203=)
c.600A>G (p.Pro200=)
c.591A>G (p.Pro197=)
c.462A>G (p.Pro154=)
n.69+1946T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8121760T>GCA497955142HES7c.504A>C (p.Pro168=)
c.489A>C (p.Pro163=)
c.609A>C (p.Pro203=)
c.600A>C (p.Pro200=)
c.591A>C (p.Pro197=)
c.462A>C (p.Pro154=)
n.69+1946T>G
 gnomAD v4
17g.8121760T=CA2246160255HES7c.504A= (p.Pro168=)
c.489A= (p.Pro163=)
c.609A= (p.Pro203=)
c.600A= (p.Pro200=)
c.591A= (p.Pro197=)
c.462A= (p.Pro154=)
n.69+1946T=
17g.8121760dupCA2635937249HES7c.504dup (p.Val169SerfsTer7)
c.489dup (p.Val164SerfsTer7)
c.609dup (p.Val204SerfsTer7)
c.600dup (p.Val201SerfsTer7)
c.591dup (p.Val198SerfsTer7)
c.462dup (p.Val155SerfsTer7)
n.69+1946dup
 gnomAD v4
17g.8121760_8121761delCA2246160254HES7c.503_504del (p.Pro168ArgfsTer7)
c.488_489del (p.Pro163ArgfsTer7)
c.608_609del (p.Pro203ArgfsTer7)
c.599_600del (p.Pro200ArgfsTer7)
c.590_591del (p.Pro197ArgfsTer7)
c.461_462del (p.Pro154ArgfsTer7)
n.69+1946_69+1947del
 dbSNP
17g.8121760_8121774delCA2808397535HES7c.490_504del (p.His164_Pro168del)
c.475_489del (p.His159_Pro163del)
c.595_609del (p.His199_Pro203del)
c.586_600del (p.His196_Pro200del)
c.577_591del (p.His193_Pro197del)
c.448_462del (p.His150_Pro154del)
n.69+1946_69+1960del
17g.8121761G>ACA397987837HES7c.503C>T (p.Pro168Leu)
c.488C>T (p.Pro163Leu)
c.608C>T (p.Pro203Leu)
c.599C>T (p.Pro200Leu)
c.590C>T (p.Pro197Leu)
c.461C>T (p.Pro154Leu)
n.69+1947G>A
 dbSNP gnomAD v2 gnomAD v4
17g.8121761G>CCA397987836HES7c.503C>G (p.Pro168Arg)
c.488C>G (p.Pro163Arg)
c.608C>G (p.Pro203Arg)
c.599C>G (p.Pro200Arg)
c.590C>G (p.Pro197Arg)
c.461C>G (p.Pro154Arg)
n.69+1947G>C
17g.8121761G=CA2246160263HES7c.503C= (p.Pro168=)
c.488C= (p.Pro163=)
c.608C= (p.Pro203=)
c.599C= (p.Pro200=)
c.590C= (p.Pro197=)
c.461C= (p.Pro154=)
n.69+1947G=
17g.8121761G>TCA397987840HES7c.503C>A (p.Pro168Gln)
c.488C>A (p.Pro163Gln)
c.608C>A (p.Pro203Gln)
c.599C>A (p.Pro200Gln)
c.590C>A (p.Pro197Gln)
c.461C>A (p.Pro154Gln)
n.69+1947G>T
 gnomAD v4
17g.8121766dupCA624868561HES7c.503dup (p.Val169SerfsTer7)
c.488dup (p.Val164SerfsTer7)
c.608dup (p.Val204SerfsTer7)
c.599dup (p.Val201SerfsTer7)
c.590dup (p.Val198SerfsTer7)
c.461dup (p.Val155SerfsTer7)
n.69+1952dup
 dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.8121766delCA624868562HES7c.503del (p.Pro168GlnfsTer?)
c.488del (p.Pro163GlnfsTer?)
c.608del (p.Pro203GlnfsTer?)
c.599del (p.Pro200GlnfsTer?)
c.590del (p.Pro197GlnfsTer?)
c.461del (p.Pro154GlnfsTer?)
n.69+1952del
 gnomAD v2 gnomAD v4
17g.8121762G>ACA397987844HES7c.502C>T (p.Pro168Ser)
c.487C>T (p.Pro163Ser)
c.607C>T (p.Pro203Ser)
c.598C>T (p.Pro200Ser)
c.589C>T (p.Pro197Ser)
c.460C>T (p.Pro154Ser)
n.69+1948G>A
 gnomAD v4
17g.8121762G>CCA8368620HES7c.502C>G (p.Pro168Ala)
c.487C>G (p.Pro163Ala)
c.607C>G (p.Pro203Ala)
c.598C>G (p.Pro200Ala)
c.589C>G (p.Pro197Ala)
c.460C>G (p.Pro154Ala)
n.69+1948G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8121762G=CA2246160265HES7c.502C= (p.Pro168=)
c.487C= (p.Pro163=)
c.607C= (p.Pro203=)
c.598C= (p.Pro200=)
c.589C= (p.Pro197=)
c.460C= (p.Pro154=)
n.69+1948G=
17g.8121762G>TCA397987849HES7c.502C>A (p.Pro168Thr)
c.487C>A (p.Pro163Thr)
c.607C>A (p.Pro203Thr)
c.598C>A (p.Pro200Thr)
c.589C>A (p.Pro197Thr)
c.460C>A (p.Pro154Thr)
n.69+1948G>T
 gnomAD v4
17g.8121763G>ACA497955144HES7c.501C>T (p.Pro167=)
c.486C>T (p.Pro162=)
c.606C>T (p.Pro202=)
c.597C>T (p.Pro199=)
c.588C>T (p.Pro196=)
c.459C>T (p.Pro153=)
n.69+1949G>A
 dbSNP gnomAD v2 gnomAD v4
17g.8121763G>CCA497955145HES7c.501C>G (p.Pro167=)
c.486C>G (p.Pro162=)
c.606C>G (p.Pro202=)
c.597C>G (p.Pro199=)
c.588C>G (p.Pro196=)
c.459C>G (p.Pro153=)
n.69+1949G>C
 gnomAD v4
17g.8121763G=CA2246160268HES7c.501C= (p.Pro167=)
c.486C= (p.Pro162=)
c.606C= (p.Pro202=)
c.597C= (p.Pro199=)
c.588C= (p.Pro196=)
c.459C= (p.Pro153=)
n.69+1949G=
17g.8121763G>TCA497955146HES7c.501C>A (p.Pro167=)
c.486C>A (p.Pro162=)
c.606C>A (p.Pro202=)
c.597C>A (p.Pro199=)
c.588C>A (p.Pro196=)
c.459C>A (p.Pro153=)
n.69+1949G>T
 gnomAD v4
17g.8121764G>ACA397987852HES7c.500C>T (p.Pro167Leu)
c.485C>T (p.Pro162Leu)
c.605C>T (p.Pro202Leu)
c.596C>T (p.Pro199Leu)
c.587C>T (p.Pro196Leu)
c.458C>T (p.Pro153Leu)
n.69+1950G>A
 gnomAD v4
17g.8121764G>CCA397987853HES7c.500C>G (p.Pro167Arg)
c.485C>G (p.Pro162Arg)
c.605C>G (p.Pro202Arg)
c.596C>G (p.Pro199Arg)
c.587C>G (p.Pro196Arg)
c.458C>G (p.Pro153Arg)
n.69+1950G>C
 dbSNP
17g.8121764G=CA2246160269HES7c.500C= (p.Pro167=)
c.485C= (p.Pro162=)
c.605C= (p.Pro202=)
c.596C= (p.Pro199=)
c.587C= (p.Pro196=)
c.458C= (p.Pro153=)
n.69+1950G=
17g.8121764G>TCA397987856HES7c.500C>A (p.Pro167His)
c.485C>A (p.Pro162His)
c.605C>A (p.Pro202His)
c.596C>A (p.Pro199His)
c.587C>A (p.Pro196His)
c.458C>A (p.Pro153His)
n.69+1950G>T
 gnomAD v4
17g.8121765G>ACA397987859HES7c.499C>T (p.Pro167Ser)
c.484C>T (p.Pro162Ser)
c.604C>T (p.Pro202Ser)
c.595C>T (p.Pro199Ser)
c.586C>T (p.Pro196Ser)
c.457C>T (p.Pro153Ser)
n.69+1951G>A
 dbSNP gnomAD v4
17g.8121765G>CCA397987860HES7c.499C>G (p.Pro167Ala)
c.484C>G (p.Pro162Ala)
c.604C>G (p.Pro202Ala)
c.595C>G (p.Pro199Ala)
c.586C>G (p.Pro196Ala)
c.457C>G (p.Pro153Ala)
n.69+1951G>C
 dbSNP
17g.8121765G=CA2246160272HES7c.499C= (p.Pro167=)
c.484C= (p.Pro162=)
c.604C= (p.Pro202=)
c.595C= (p.Pro199=)
c.586C= (p.Pro196=)
c.457C= (p.Pro153=)
n.69+1951G=
17g.8121765G>TCA397987861HES7c.499C>A (p.Pro167Thr)
c.484C>A (p.Pro162Thr)
c.604C>A (p.Pro202Thr)
c.595C>A (p.Pro199Thr)
c.586C>A (p.Pro196Thr)
c.457C>A (p.Pro153Thr)
n.69+1951G>T
 gnomAD v4
17g.8121766G>ACA497955150HES7c.498C>T (p.Arg166=)
c.483C>T (p.Arg161=)
c.603C>T (p.Arg201=)
c.594C>T (p.Arg198=)
c.585C>T (p.Arg195=)
c.456C>T (p.Arg152=)
n.69+1952G>A
 dbSNP gnomAD v2 gnomAD v4
17g.8121766G>CCA497955149HES7c.498C>G (p.Arg166=)
c.483C>G (p.Arg161=)
c.603C>G (p.Arg201=)
c.594C>G (p.Arg198=)
c.585C>G (p.Arg195=)
c.456C>G (p.Arg152=)
n.69+1952G>C
 gnomAD v4
17g.8121766G=CA2246160277HES7c.498C= (p.Arg166=)
c.483C= (p.Arg161=)
c.603C= (p.Arg201=)
c.594C= (p.Arg198=)
c.585C= (p.Arg195=)
c.456C= (p.Arg152=)
n.69+1952G=
17g.8121766G>TCA497955148HES7c.498C>A (p.Arg166=)
c.483C>A (p.Arg161=)
c.603C>A (p.Arg201=)
c.594C>A (p.Arg198=)
c.585C>A (p.Arg195=)
c.456C>A (p.Arg152=)
n.69+1952G>T
 gnomAD v4
17g.8121767C>ACA397987862HES7c.497G>T (p.Arg166Leu)
c.482G>T (p.Arg161Leu)
c.602G>T (p.Arg201Leu)
c.593G>T (p.Arg198Leu)
c.584G>T (p.Arg195Leu)
c.455G>T (p.Arg152Leu)
n.69+1953C>A
 gnomAD v4
17g.8121767C=CA2246160281HES7c.497G= (p.Arg166=)
c.482G= (p.Arg161=)
c.602G= (p.Arg201=)
c.593G= (p.Arg198=)
c.584G= (p.Arg195=)
c.455G= (p.Arg152=)
n.69+1953C=
17g.8121767C>GCA397987863HES7c.497G>C (p.Arg166Pro)
c.482G>C (p.Arg161Pro)
c.602G>C (p.Arg201Pro)
c.593G>C (p.Arg198Pro)
c.584G>C (p.Arg195Pro)
c.455G>C (p.Arg152Pro)
n.69+1953C>G
17g.8121767C>TCA397987866HES7c.497G>A (p.Arg166His)
c.482G>A (p.Arg161His)
c.602G>A (p.Arg201His)
c.593G>A (p.Arg198His)
c.584G>A (p.Arg195His)
c.455G>A (p.Arg152His)
n.69+1953C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.8121768G>ACA397987876HES7c.496C>T (p.Arg166Cys)
c.481C>T (p.Arg161Cys)
c.601C>T (p.Arg201Cys)
c.592C>T (p.Arg198Cys)
c.583C>T (p.Arg195Cys)
c.454C>T (p.Arg152Cys)
n.69+1954G>A
 gnomAD v4
17g.8121768G>CCA397987869HES7c.496C>G (p.Arg166Gly)
c.481C>G (p.Arg161Gly)
c.601C>G (p.Arg201Gly)
c.592C>G (p.Arg198Gly)
c.583C>G (p.Arg195Gly)
c.454C>G (p.Arg152Gly)
n.69+1954G>C
 dbSNP gnomAD v4
17g.8121768G=CA2246160284HES7c.496C= (p.Arg166=)
c.481C= (p.Arg161=)
c.601C= (p.Arg201=)
c.592C= (p.Arg198=)
c.583C= (p.Arg195=)
c.454C= (p.Arg152=)
n.69+1954G=
17g.8121768G>TCA397987872HES7c.496C>A (p.Arg166Ser)
c.481C>A (p.Arg161Ser)
c.601C>A (p.Arg201Ser)
c.592C>A (p.Arg198Ser)
c.583C>A (p.Arg195Ser)
c.454C>A (p.Arg152Ser)
n.69+1954G>T
 dbSNP gnomAD v2 gnomAD v4
17g.8121769C>ACA397987878HES7c.495G>T (p.Gln165His)
c.480G>T (p.Gln160His)
c.600G>T (p.Gln200His)
c.591G>T (p.Gln197His)
c.582G>T (p.Gln194His)
c.453G>T (p.Gln151His)
n.69+1955C>A
 gnomAD v4
17g.8121769C>GCA397987883HES7c.495G>C (p.Gln165His)
c.480G>C (p.Gln160His)
c.600G>C (p.Gln200His)
c.591G>C (p.Gln197His)
c.582G>C (p.Gln194His)
c.453G>C (p.Gln151His)
n.69+1955C>G
17g.8121769C>TCA497955155HES7c.495G>A (p.Gln165=)
c.480G>A (p.Gln160=)
c.600G>A (p.Gln200=)
c.591G>A (p.Gln197=)
c.582G>A (p.Gln194=)
c.453G>A (p.Gln151=)
n.69+1955C>T
 gnomAD v4
17g.8121770T>ACA397987884HES7c.494A>T (p.Gln165Leu)
c.479A>T (p.Gln160Leu)
c.599A>T (p.Gln200Leu)
c.590A>T (p.Gln197Leu)
c.581A>T (p.Gln194Leu)
c.452A>T (p.Gln151Leu)
n.69+1956T>A
 gnomAD v4
17g.8121770T>CCA397987887HES7c.494A>G (p.Gln165Arg)
c.479A>G (p.Gln160Arg)
c.599A>G (p.Gln200Arg)
c.590A>G (p.Gln197Arg)
c.581A>G (p.Gln194Arg)
c.452A>G (p.Gln151Arg)
n.69+1956T>C
 gnomAD v4
17g.8121770T>GCA397987892HES7c.494A>C (p.Gln165Pro)
c.479A>C (p.Gln160Pro)
c.599A>C (p.Gln200Pro)
c.590A>C (p.Gln197Pro)
c.581A>C (p.Gln194Pro)
c.452A>C (p.Gln151Pro)
n.69+1956T>G
17g.8121771G>ACA397987897HES7c.493C>T (p.Gln165Ter)
c.478C>T (p.Gln160Ter)
c.598C>T (p.Gln200Ter)
c.589C>T (p.Gln197Ter)
c.580C>T (p.Gln194Ter)
c.451C>T (p.Gln151Ter)
n.69+1957G>A
 dbSNP gnomAD v4
17g.8121771G>CCA397987898HES7c.493C>G (p.Gln165Glu)
c.478C>G (p.Gln160Glu)
c.598C>G (p.Gln200Glu)
c.589C>G (p.Gln197Glu)
c.580C>G (p.Gln194Glu)
c.451C>G (p.Gln151Glu)
n.69+1957G>C
17g.8121771G=CA2246160287HES7c.493C= (p.Gln165=)
c.478C= (p.Gln160=)
c.598C= (p.Gln200=)
c.589C= (p.Gln197=)
c.580C= (p.Gln194=)
c.451C= (p.Gln151=)
n.69+1957G=
17g.8121771G>TCA397987900HES7c.493C>A (p.Gln165Lys)
c.478C>A (p.Gln160Lys)
c.598C>A (p.Gln200Lys)
c.589C>A (p.Gln197Lys)
c.580C>A (p.Gln194Lys)
c.451C>A (p.Gln151Lys)
n.69+1957G>T
 dbSNP gnomAD v4
17g.8121772delCA2635937272HES7c.493del (p.Gln165SerfsTer?)
c.478del (p.Gln160SerfsTer?)
c.598del (p.Gln200SerfsTer?)
c.589del (p.Gln197SerfsTer?)
c.580del (p.Gln194SerfsTer?)
c.451del (p.Gln151SerfsTer?)
n.69+1958del
 gnomAD v4
17g.8121772G>ACA8368621HES7c.492C>T (p.His164=)
c.477C>T (p.His159=)
c.597C>T (p.His199=)
c.588C>T (p.His196=)
c.579C>T (p.His193=)
c.450C>T (p.His150=)
n.69+1958G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8121772G>CCA397987905HES7c.492C>G (p.His164Gln)
c.477C>G (p.His159Gln)
c.597C>G (p.His199Gln)
c.588C>G (p.His196Gln)
c.579C>G (p.His193Gln)
c.450C>G (p.His150Gln)
n.69+1958G>C
 gnomAD v4
17g.8121772G=CA2246160292HES7c.492C= (p.His164=)
c.477C= (p.His159=)
c.597C= (p.His199=)
c.588C= (p.His196=)
c.579C= (p.His193=)
c.450C= (p.His150=)
n.69+1958G=
17g.8121772G>TCA397987908HES7c.492C>A (p.His164Gln)
c.477C>A (p.His159Gln)
c.597C>A (p.His199Gln)
c.588C>A (p.His196Gln)
c.579C>A (p.His193Gln)
c.450C>A (p.His150Gln)
n.69+1958G>T
 dbSNP gnomAD v4
17g.8121781_8121888delCA2635937286HES7c.385_492del (p.Gly129_His164del)
c.370_477del (p.Gly124_His159del)
c.490_597del (p.Gly164_His199del)
c.481_588del (p.Gly161_His196del)
c.472_579del (p.Gly158_His193del)
c.343_450del (p.Gly115_His150del)
n.69+1967_69+2074del
 gnomAD v4
17g.8121773T>ACA397987912HES7c.491A>T (p.His164Leu)
c.476A>T (p.His159Leu)
c.596A>T (p.His199Leu)
c.587A>T (p.His196Leu)
c.578A>T (p.His193Leu)
c.449A>T (p.His150Leu)
n.69+1959T>A
17g.8121773T>CCA397987914HES7c.491A>G (p.His164Arg)
c.476A>G (p.His159Arg)
c.596A>G (p.His199Arg)
c.587A>G (p.His196Arg)
c.578A>G (p.His193Arg)
c.449A>G (p.His150Arg)
n.69+1959T>C
 dbSNP gnomAD v2 gnomAD v4
17g.8121773T>GCA397987910HES7c.491A>C (p.His164Pro)
c.476A>C (p.His159Pro)
c.596A>C (p.His199Pro)
c.587A>C (p.His196Pro)
c.578A>C (p.His193Pro)
c.449A>C (p.His150Pro)
n.69+1959T>G
17g.8121773T=CA2246160303HES7c.491A= (p.His164=)
c.476A= (p.His159=)
c.596A= (p.His199=)
c.587A= (p.His196=)
c.578A= (p.His193=)
c.449A= (p.His150=)
n.69+1959T=
17g.8121774G>ACA397987918HES7c.490C>T (p.His164Tyr)
c.475C>T (p.His159Tyr)
c.595C>T (p.His199Tyr)
c.586C>T (p.His196Tyr)
c.577C>T (p.His193Tyr)
c.448C>T (p.His150Tyr)
n.69+1960G>A
 dbSNP gnomAD v4
17g.8121774G>CCA397987919HES7c.490C>G (p.His164Asp)
c.475C>G (p.His159Asp)
c.595C>G (p.His199Asp)
c.586C>G (p.His196Asp)
c.577C>G (p.His193Asp)
c.448C>G (p.His150Asp)
n.69+1960G>C
17g.8121774G=CA2246160306HES7c.490C= (p.His164=)
c.475C= (p.His159=)
c.595C= (p.His199=)
c.586C= (p.His196=)
c.577C= (p.His193=)
c.448C= (p.His150=)
n.69+1960G=
17g.8121774G>TCA397987922HES7c.490C>A (p.His164Asn)
c.475C>A (p.His159Asn)
c.595C>A (p.His199Asn)
c.586C>A (p.His196Asn)
c.577C>A (p.His193Asn)
c.448C>A (p.His150Asn)
n.69+1960G>T
 gnomAD v4
17g.8121775C>ACA497955161HES7c.489G>T (p.Leu163=)
c.474G>T (p.Leu158=)
c.594G>T (p.Leu198=)
c.585G>T (p.Leu195=)
c.576G>T (p.Leu192=)
c.447G>T (p.Leu149=)
n.69+1961C>A
 gnomAD v4
17g.8121775C>GCA497955162HES7c.489G>C (p.Leu163=)
c.474G>C (p.Leu158=)
c.594G>C (p.Leu198=)
c.585G>C (p.Leu195=)
c.576G>C (p.Leu192=)
c.447G>C (p.Leu149=)
n.69+1961C>G
17g.8121775C>TCA497955164HES7c.489G>A (p.Leu163=)
c.474G>A (p.Leu158=)
c.594G>A (p.Leu198=)
c.585G>A (p.Leu195=)
c.576G>A (p.Leu192=)
c.447G>A (p.Leu149=)
n.69+1961C>T
 gnomAD v4
17g.8121776A>CCA397987925HES7c.488T>G (p.Leu163Arg)
c.473T>G (p.Leu158Arg)
c.593T>G (p.Leu198Arg)
c.584T>G (p.Leu195Arg)
c.575T>G (p.Leu192Arg)
c.446T>G (p.Leu149Arg)
n.69+1962A>C
17g.8121776A>GCA397987926HES7c.488T>C (p.Leu163Pro)
c.473T>C (p.Leu158Pro)
c.593T>C (p.Leu198Pro)
c.584T>C (p.Leu195Pro)
c.575T>C (p.Leu192Pro)
c.446T>C (p.Leu149Pro)
n.69+1962A>G
 gnomAD v4
17g.8121776A>TCA397987929HES7c.488T>A (p.Leu163Gln)
c.473T>A (p.Leu158Gln)
c.593T>A (p.Leu198Gln)
c.584T>A (p.Leu195Gln)
c.575T>A (p.Leu192Gln)
c.446T>A (p.Leu149Gln)
n.69+1962A>T
17g.8121777G>ACA497955169HES7c.487C>T (p.Leu163=)
c.472C>T (p.Leu158=)
c.592C>T (p.Leu198=)
c.583C>T (p.Leu195=)
c.574C>T (p.Leu192=)
c.445C>T (p.Leu149=)
n.69+1963G>A
 gnomAD v4
17g.8121777G>CCA397987932HES7c.487C>G (p.Leu163Val)
c.472C>G (p.Leu158Val)
c.592C>G (p.Leu198Val)
c.583C>G (p.Leu195Val)
c.574C>G (p.Leu192Val)
c.445C>G (p.Leu149Val)
n.69+1963G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8121777G=CA2246160309HES7c.487C= (p.Leu163=)
c.472C= (p.Leu158=)
c.592C= (p.Leu198=)
c.583C= (p.Leu195=)
c.574C= (p.Leu192=)
c.445C= (p.Leu149=)
n.69+1963G=
17g.8121777G>TCA397987931HES7c.487C>A (p.Leu163Met)
c.472C>A (p.Leu158Met)
c.592C>A (p.Leu198Met)
c.583C>A (p.Leu195Met)
c.574C>A (p.Leu192Met)
c.445C>A (p.Leu149Met)
n.69+1963G>T
 gnomAD v4
17g.8121778C>ACA497955171HES7c.486G>T (p.Ala162=)
c.471G>T (p.Ala157=)
c.591G>T (p.Ala197=)
c.582G>T (p.Ala194=)
c.573G>T (p.Ala191=)
c.444G>T (p.Ala148=)
n.69+1964C>A
 gnomAD v4
17g.8121778C>GCA497955172HES7c.486G>C (p.Ala162=)
c.471G>C (p.Ala157=)
c.591G>C (p.Ala197=)
c.582G>C (p.Ala194=)
c.573G>C (p.Ala191=)
c.444G>C (p.Ala148=)
n.69+1964C>G
17g.8121778C>TCA497955173HES7c.486G>A (p.Ala162=)
c.471G>A (p.Ala157=)
c.591G>A (p.Ala197=)
c.582G>A (p.Ala194=)
c.573G>A (p.Ala191=)
c.444G>A (p.Ala148=)
n.69+1964C>T
 gnomAD v4
17g.8121779G>ACA397987933HES7c.485C>T (p.Ala162Val)
c.470C>T (p.Ala157Val)
c.590C>T (p.Ala197Val)
c.581C>T (p.Ala194Val)
c.572C>T (p.Ala191Val)
c.443C>T (p.Ala148Val)
n.69+1965G>A
 gnomAD v4
17g.8121779G>CCA397987934HES7c.485C>G (p.Ala162Gly)
c.470C>G (p.Ala157Gly)
c.590C>G (p.Ala197Gly)
c.581C>G (p.Ala194Gly)
c.572C>G (p.Ala191Gly)
c.443C>G (p.Ala148Gly)
n.69+1965G>C
 gnomAD v4
17g.8121779G>TCA397987935HES7c.485C>A (p.Ala162Glu)
c.470C>A (p.Ala157Glu)
c.590C>A (p.Ala197Glu)
c.581C>A (p.Ala194Glu)
c.572C>A (p.Ala191Glu)
c.443C>A (p.Ala148Glu)
n.69+1965G>T
 gnomAD v4
17g.8121780C>ACA397987936HES7c.484G>T (p.Ala162Ser)
c.469G>T (p.Ala157Ser)
c.589G>T (p.Ala197Ser)
c.580G>T (p.Ala194Ser)
c.571G>T (p.Ala191Ser)
c.442G>T (p.Ala148Ser)
n.69+1966C>A
 gnomAD v4
17g.8121780C>GCA397987938HES7c.484G>C (p.Ala162Pro)
c.469G>C (p.Ala157Pro)
c.589G>C (p.Ala197Pro)
c.580G>C (p.Ala194Pro)
c.571G>C (p.Ala191Pro)
c.442G>C (p.Ala148Pro)
n.69+1966C>G
17g.8121780C>TCA397987940HES7c.484G>A (p.Ala162Thr)
c.469G>A (p.Ala157Thr)
c.589G>A (p.Ala197Thr)
c.580G>A (p.Ala194Thr)
c.571G>A (p.Ala191Thr)
c.442G>A (p.Ala148Thr)
n.69+1966C>T
 gnomAD v4
17g.8121781A>CCA497955181HES7c.483T>G (p.Pro161=)
c.468T>G (p.Pro156=)
c.588T>G (p.Pro196=)
c.579T>G (p.Pro193=)
c.570T>G (p.Pro190=)
c.441T>G (p.Pro147=)
n.69+1967A>C
17g.8121781A>GCA497955179HES7c.483T>C (p.Pro161=)
c.468T>C (p.Pro156=)
c.588T>C (p.Pro196=)
c.579T>C (p.Pro193=)
c.570T>C (p.Pro190=)
c.441T>C (p.Pro147=)
n.69+1967A>G
 dbSNP gnomAD v4
17g.8121781A>TCA497955178HES7c.483T>A (p.Pro161=)
c.468T>A (p.Pro156=)
c.588T>A (p.Pro196=)
c.579T>A (p.Pro193=)
c.570T>A (p.Pro190=)
c.441T>A (p.Pro147=)
n.69+1967A>T
17g.8121782G>ACA397987941HES7c.482C>T (p.Pro161Leu)
c.467C>T (p.Pro156Leu)
c.587C>T (p.Pro196Leu)
c.578C>T (p.Pro193Leu)
c.569C>T (p.Pro190Leu)
c.440C>T (p.Pro147Leu)
n.69+1968G>A
 gnomAD v4
17g.8121782G>CCA397987946HES7c.482C>G (p.Pro161Arg)
c.467C>G (p.Pro156Arg)
c.587C>G (p.Pro196Arg)
c.578C>G (p.Pro193Arg)
c.569C>G (p.Pro190Arg)
c.440C>G (p.Pro147Arg)
n.69+1968G>C
 dbSNP gnomAD v2 gnomAD v4
17g.8121782G=CA2246160313HES7c.482C= (p.Pro161=)
c.467C= (p.Pro156=)
c.587C= (p.Pro196=)
c.578C= (p.Pro193=)
c.569C= (p.Pro190=)
c.440C= (p.Pro147=)
n.69+1968G=
17g.8121782G>TCA397987943HES7c.482C>A (p.Pro161His)
c.467C>A (p.Pro156His)
c.587C>A (p.Pro196His)
c.578C>A (p.Pro193His)
c.569C>A (p.Pro190His)
c.440C>A (p.Pro147His)
n.69+1968G>T
 gnomAD v4
17g.8121784delCA2635937334HES7c.482del (p.Pro161LeufsTer?)
c.467del (p.Pro156LeufsTer?)
c.587del (p.Pro196LeufsTer?)
c.578del (p.Pro193LeufsTer?)
c.569del (p.Pro190LeufsTer?)
c.440del (p.Pro147LeufsTer?)
n.69+1970del
 gnomAD v4
17g.8121783G>ACA397987948HES7c.481C>T (p.Pro161Ser)
c.466C>T (p.Pro156Ser)
c.586C>T (p.Pro196Ser)
c.577C>T (p.Pro193Ser)
c.568C>T (p.Pro190Ser)
c.439C>T (p.Pro147Ser)
n.69+1969G>A
 gnomAD v4
17g.8121783G>CCA397987951HES7c.481C>G (p.Pro161Ala)
c.466C>G (p.Pro156Ala)
c.586C>G (p.Pro196Ala)
c.577C>G (p.Pro193Ala)
c.568C>G (p.Pro190Ala)
c.439C>G (p.Pro147Ala)
n.69+1969G>C
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

Number of alleles fetched