Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.123325413G>ACA354218530ADCY5c.674C>T (p.Ser225Phe)
c.962C>T (p.Ser321Phe)
c.1997C>T (p.Ser666Phe)
n.256C>T
c.947C>T (p.Ser316Phe)
c.896C>T (p.Ser299Phe)
c.998C>T (p.Ser333Phe)
c.908C>T (p.Ser303Phe)
c.899C>T (p.Ser300Phe)
COSMIC
3g.123325413G>CCA354218531ADCY5c.674C>G (p.Ser225Cys)
c.962C>G (p.Ser321Cys)
c.1997C>G (p.Ser666Cys)
n.256C>G
c.947C>G (p.Ser316Cys)
c.896C>G (p.Ser299Cys)
c.998C>G (p.Ser333Cys)
c.908C>G (p.Ser303Cys)
c.899C>G (p.Ser300Cys)
3g.123325413G>TCA354218532ADCY5c.674C>A (p.Ser225Tyr)
c.962C>A (p.Ser321Tyr)
c.1997C>A (p.Ser666Tyr)
n.256C>A
c.947C>A (p.Ser316Tyr)
c.896C>A (p.Ser299Tyr)
c.998C>A (p.Ser333Tyr)
c.908C>A (p.Ser303Tyr)
c.899C>A (p.Ser300Tyr)
3g.123325414A>CCA354218533ADCY5c.673T>G (p.Ser225Ala)
c.961T>G (p.Ser321Ala)
c.1996T>G (p.Ser666Ala)
n.255T>G
c.946T>G (p.Ser316Ala)
c.895T>G (p.Ser299Ala)
c.997T>G (p.Ser333Ala)
c.907T>G (p.Ser303Ala)
c.898T>G (p.Ser300Ala)
3g.123325414A>GCA354218535ADCY5c.673T>C (p.Ser225Pro)
c.961T>C (p.Ser321Pro)
c.1996T>C (p.Ser666Pro)
n.255T>C
c.946T>C (p.Ser316Pro)
c.895T>C (p.Ser299Pro)
c.997T>C (p.Ser333Pro)
c.907T>C (p.Ser303Pro)
c.898T>C (p.Ser300Pro)
3g.123325414A>TCA354218534ADCY5c.673T>A (p.Ser225Thr)
c.961T>A (p.Ser321Thr)
c.1996T>A (p.Ser666Thr)
n.255T>A
c.946T>A (p.Ser316Thr)
c.895T>A (p.Ser299Thr)
c.997T>A (p.Ser333Thr)
c.907T>A (p.Ser303Thr)
c.898T>A (p.Ser300Thr)
3g.123325415G>ACA2577289ADCY5c.672C>T (p.Asn224=)
c.960C>T (p.Asn320=)
c.1995C>T (p.Asn665=)
n.254C>T
c.945C>T (p.Asn315=)
c.894C>T (p.Asn298=)
c.996C>T (p.Asn332=)
c.906C>T (p.Asn302=)
c.897C>T (p.Asn299=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123325415G>CCA354218536ADCY5c.672C>G (p.Asn224Lys)
c.960C>G (p.Asn320Lys)
c.1995C>G (p.Asn665Lys)
n.254C>G
c.945C>G (p.Asn315Lys)
c.894C>G (p.Asn298Lys)
c.996C>G (p.Asn332Lys)
c.906C>G (p.Asn302Lys)
c.897C>G (p.Asn299Lys)
3g.123325415G=CA1398346269ADCY5c.672C= (p.Asn224=)
c.960C= (p.Asn320=)
c.1995C= (p.Asn665=)
n.254C=
c.945C= (p.Asn315=)
c.894C= (p.Asn298=)
c.996C= (p.Asn332=)
c.906C= (p.Asn302=)
c.897C= (p.Asn299=)
3g.123325415G>TCA354218537ADCY5c.672C>A (p.Asn224Lys)
c.960C>A (p.Asn320Lys)
c.1995C>A (p.Asn665Lys)
n.254C>A
c.945C>A (p.Asn315Lys)
c.894C>A (p.Asn298Lys)
c.996C>A (p.Asn332Lys)
c.906C>A (p.Asn302Lys)
c.897C>A (p.Asn299Lys)
3g.123325416T>ACA354218538ADCY5c.671A>T (p.Asn224Ile)
c.959A>T (p.Asn320Ile)
c.1994A>T (p.Asn665Ile)
n.253A>T
c.944A>T (p.Asn315Ile)
c.893A>T (p.Asn298Ile)
c.995A>T (p.Asn332Ile)
c.905A>T (p.Asn302Ile)
c.896A>T (p.Asn299Ile)
3g.123325416T>CCA354218539ADCY5c.671A>G (p.Asn224Ser)
c.959A>G (p.Asn320Ser)
c.1994A>G (p.Asn665Ser)
n.253A>G
c.944A>G (p.Asn315Ser)
c.893A>G (p.Asn298Ser)
c.995A>G (p.Asn332Ser)
c.905A>G (p.Asn302Ser)
c.896A>G (p.Asn299Ser)
gnomAD v4
3g.123325416T>GCA354218540ADCY5c.671A>C (p.Asn224Thr)
c.959A>C (p.Asn320Thr)
c.1994A>C (p.Asn665Thr)
n.253A>C
c.944A>C (p.Asn315Thr)
c.893A>C (p.Asn298Thr)
c.995A>C (p.Asn332Thr)
c.905A>C (p.Asn302Thr)
c.896A>C (p.Asn299Thr)
3g.123325417T>ACA354218541ADCY5c.670A>T (p.Asn224Tyr)
c.958A>T (p.Asn320Tyr)
c.1993A>T (p.Asn665Tyr)
n.252A>T
c.943A>T (p.Asn315Tyr)
c.892A>T (p.Asn298Tyr)
c.994A>T (p.Asn332Tyr)
c.904A>T (p.Asn302Tyr)
c.895A>T (p.Asn299Tyr)
3g.123325417T>CCA354218542ADCY5c.670A>G (p.Asn224Asp)
c.958A>G (p.Asn320Asp)
c.1993A>G (p.Asn665Asp)
n.252A>G
c.943A>G (p.Asn315Asp)
c.892A>G (p.Asn298Asp)
c.994A>G (p.Asn332Asp)
c.904A>G (p.Asn302Asp)
c.895A>G (p.Asn299Asp)
dbSNP gnomAD v3 gnomAD v4
3g.123325417T>GCA354218543ADCY5c.670A>C (p.Asn224His)
c.958A>C (p.Asn320His)
c.1993A>C (p.Asn665His)
n.252A>C
c.943A>C (p.Asn315His)
c.892A>C (p.Asn298His)
c.994A>C (p.Asn332His)
c.904A>C (p.Asn302His)
c.895A>C (p.Asn299His)
3g.123325417T=CA1398346270ADCY5c.670A= (p.Asn224=)
c.958A= (p.Asn320=)
c.1993A= (p.Asn665=)
n.252A=
c.943A= (p.Asn315=)
c.892A= (p.Asn298=)
c.994A= (p.Asn332=)
c.904A= (p.Asn302=)
c.895A= (p.Asn299=)
3g.123325418G>ACA435293377ADCY5c.669C>T (p.Thr223=)
c.957C>T (p.Thr319=)
c.1992C>T (p.Thr664=)
n.251C>T
c.942C>T (p.Thr314=)
c.891C>T (p.Thr297=)
c.993C>T (p.Thr331=)
c.903C>T (p.Thr301=)
c.894C>T (p.Thr298=)
3g.123325418G>CCA435293375ADCY5c.669C>G (p.Thr223=)
c.957C>G (p.Thr319=)
c.1992C>G (p.Thr664=)
n.251C>G
c.942C>G (p.Thr314=)
c.891C>G (p.Thr297=)
c.993C>G (p.Thr331=)
c.903C>G (p.Thr301=)
c.894C>G (p.Thr298=)
3g.123325418G>TCA435293376ADCY5c.669C>A (p.Thr223=)
c.957C>A (p.Thr319=)
c.1992C>A (p.Thr664=)
n.251C>A
c.942C>A (p.Thr314=)
c.891C>A (p.Thr297=)
c.993C>A (p.Thr331=)
c.903C>A (p.Thr301=)
c.894C>A (p.Thr298=)
3g.123325419G>ACA354218545ADCY5c.668C>T (p.Thr223Ile)
c.956C>T (p.Thr319Ile)
c.1991C>T (p.Thr664Ile)
n.250C>T
c.941C>T (p.Thr314Ile)
c.890C>T (p.Thr297Ile)
c.992C>T (p.Thr331Ile)
c.902C>T (p.Thr301Ile)
c.893C>T (p.Thr298Ile)
3g.123325419G>CCA354218546ADCY5c.668C>G (p.Thr223Ser)
c.956C>G (p.Thr319Ser)
c.1991C>G (p.Thr664Ser)
n.250C>G
c.941C>G (p.Thr314Ser)
c.890C>G (p.Thr297Ser)
c.992C>G (p.Thr331Ser)
c.902C>G (p.Thr301Ser)
c.893C>G (p.Thr298Ser)
3g.123325419G>TCA354218544ADCY5c.668C>A (p.Thr223Asn)
c.956C>A (p.Thr319Asn)
c.1991C>A (p.Thr664Asn)
n.250C>A
c.941C>A (p.Thr314Asn)
c.890C>A (p.Thr297Asn)
c.992C>A (p.Thr331Asn)
c.902C>A (p.Thr301Asn)
c.893C>A (p.Thr298Asn)
3g.123325420T>ACA354218547ADCY5c.667A>T (p.Thr223Ser)
c.955A>T (p.Thr319Ser)
c.1990A>T (p.Thr664Ser)
n.249A>T
c.940A>T (p.Thr314Ser)
c.889A>T (p.Thr297Ser)
c.991A>T (p.Thr331Ser)
c.901A>T (p.Thr301Ser)
c.892A>T (p.Thr298Ser)
3g.123325420T>CCA354218548ADCY5c.667A>G (p.Thr223Ala)
c.955A>G (p.Thr319Ala)
c.1990A>G (p.Thr664Ala)
n.249A>G
c.940A>G (p.Thr314Ala)
c.889A>G (p.Thr297Ala)
c.991A>G (p.Thr331Ala)
c.901A>G (p.Thr301Ala)
c.892A>G (p.Thr298Ala)
dbSNP gnomAD v2 gnomAD v4
3g.123325420T>GCA354218549ADCY5c.667A>C (p.Thr223Pro)
c.955A>C (p.Thr319Pro)
c.1990A>C (p.Thr664Pro)
n.249A>C
c.940A>C (p.Thr314Pro)
c.889A>C (p.Thr297Pro)
c.991A>C (p.Thr331Pro)
c.901A>C (p.Thr301Pro)
c.892A>C (p.Thr298Pro)
3g.123325420T=CA1398346271ADCY5c.667A= (p.Thr223=)
c.955A= (p.Thr319=)
c.1990A= (p.Thr664=)
n.249A=
c.940A= (p.Thr314=)
c.889A= (p.Thr297=)
c.991A= (p.Thr331=)
c.901A= (p.Thr301=)
c.892A= (p.Thr298=)
3g.123325421T>ACA354218550ADCY5c.666A>T (p.Arg222Ser)
c.954A>T (p.Arg318Ser)
c.1989A>T (p.Arg663Ser)
n.248A>T
c.939A>T (p.Arg313Ser)
c.888A>T (p.Arg296Ser)
c.990A>T (p.Arg330Ser)
c.900A>T (p.Arg300Ser)
c.891A>T (p.Arg297Ser)
3g.123325421T>CCA435293378ADCY5c.666A>G (p.Arg222=)
c.954A>G (p.Arg318=)
c.1989A>G (p.Arg663=)
n.248A>G
c.939A>G (p.Arg313=)
c.888A>G (p.Arg296=)
c.990A>G (p.Arg330=)
c.900A>G (p.Arg300=)
c.891A>G (p.Arg297=)
3g.123325421T>GCA354218551ADCY5c.666A>C (p.Arg222Ser)
c.954A>C (p.Arg318Ser)
c.1989A>C (p.Arg663Ser)
n.248A>C
c.939A>C (p.Arg313Ser)
c.888A>C (p.Arg296Ser)
c.990A>C (p.Arg330Ser)
c.900A>C (p.Arg300Ser)
c.891A>C (p.Arg297Ser)
3g.123325422C>ACA354218552ADCY5c.665G>T (p.Arg222Ile)
c.953G>T (p.Arg318Ile)
c.1988G>T (p.Arg663Ile)
n.247G>T
c.938G>T (p.Arg313Ile)
c.887G>T (p.Arg296Ile)
c.989G>T (p.Arg330Ile)
c.899G>T (p.Arg300Ile)
c.890G>T (p.Arg297Ile)
COSMIC
3g.123325422C=CA1398346272ADCY5c.665G= (p.Arg222=)
c.953G= (p.Arg318=)
c.1988G= (p.Arg663=)
n.247G=
c.938G= (p.Arg313=)
c.887G= (p.Arg296=)
c.989G= (p.Arg330=)
c.899G= (p.Arg300=)
c.890G= (p.Arg297=)
3g.123325422C>GCA82899335ADCY5c.665G>C (p.Arg222Thr)
c.953G>C (p.Arg318Thr)
c.1988G>C (p.Arg663Thr)
n.247G>C
c.938G>C (p.Arg313Thr)
c.887G>C (p.Arg296Thr)
c.989G>C (p.Arg330Thr)
c.899G>C (p.Arg300Thr)
c.890G>C (p.Arg297Thr)
dbSNP gnomAD v3 gnomAD v4
3g.123325422C>TCA82899338ADCY5c.665G>A (p.Arg222Lys)
c.953G>A (p.Arg318Lys)
c.1988G>A (p.Arg663Lys)
n.247G>A
c.938G>A (p.Arg313Lys)
c.887G>A (p.Arg296Lys)
c.989G>A (p.Arg330Lys)
c.899G>A (p.Arg300Lys)
c.890G>A (p.Arg297Lys)
dbSNP gnomAD v4
3g.123325423T>ACA354218553ADCY5c.664A>T (p.Arg222Ter)
c.952A>T (p.Arg318Ter)
c.1987A>T (p.Arg663Ter)
n.246A>T
c.937A>T (p.Arg313Ter)
c.886A>T (p.Arg296Ter)
c.988A>T (p.Arg330Ter)
c.898A>T (p.Arg300Ter)
c.889A>T (p.Arg297Ter)
dbSNP
3g.123325423T>CCA354218554ADCY5c.664A>G (p.Arg222Gly)
c.952A>G (p.Arg318Gly)
c.1987A>G (p.Arg663Gly)
n.246A>G
c.937A>G (p.Arg313Gly)
c.886A>G (p.Arg296Gly)
c.988A>G (p.Arg330Gly)
c.898A>G (p.Arg300Gly)
c.889A>G (p.Arg297Gly)
3g.123325423T>GCA435293379ADCY5c.664A>C (p.Arg222=)
c.952A>C (p.Arg318=)
c.1987A>C (p.Arg663=)
n.246A>C
c.937A>C (p.Arg313=)
c.886A>C (p.Arg296=)
c.988A>C (p.Arg330=)
c.898A>C (p.Arg300=)
c.889A>C (p.Arg297=)
ClinVar
3g.123325423T=CA1398346273ADCY5c.664A= (p.Arg222=)
c.952A= (p.Arg318=)
c.1987A= (p.Arg663=)
n.246A=
c.937A= (p.Arg313=)
c.886A= (p.Arg296=)
c.988A= (p.Arg330=)
c.898A= (p.Arg300=)
c.889A= (p.Arg297=)
3g.123325424C>ACA354218555ADCY5c.663G>T (p.Gln221His)
c.951G>T (p.Gln317His)
c.1986G>T (p.Gln662His)
n.245G>T
c.936G>T (p.Gln312His)
c.885G>T (p.Gln295His)
c.987G>T (p.Gln329His)
c.897G>T (p.Gln299His)
c.888G>T (p.Gln296His)
3g.123325424C>GCA354218556ADCY5c.663G>C (p.Gln221His)
c.951G>C (p.Gln317His)
c.1986G>C (p.Gln662His)
n.245G>C
c.936G>C (p.Gln312His)
c.885G>C (p.Gln295His)
c.987G>C (p.Gln329His)
c.897G>C (p.Gln299His)
c.888G>C (p.Gln296His)
3g.123325424C>TCA435293380ADCY5c.663G>A (p.Gln221=)
c.951G>A (p.Gln317=)
c.1986G>A (p.Gln662=)
n.245G>A
c.936G>A (p.Gln312=)
c.885G>A (p.Gln295=)
c.987G>A (p.Gln329=)
c.897G>A (p.Gln299=)
c.888G>A (p.Gln296=)
3g.123325425T>ACA354218558ADCY5c.662A>T (p.Gln221Leu)
c.950A>T (p.Gln317Leu)
c.1985A>T (p.Gln662Leu)
n.244A>T
c.935A>T (p.Gln312Leu)
c.884A>T (p.Gln295Leu)
c.986A>T (p.Gln329Leu)
c.896A>T (p.Gln299Leu)
c.887A>T (p.Gln296Leu)
3g.123325425T>CCA354218559ADCY5c.662A>G (p.Gln221Arg)
c.950A>G (p.Gln317Arg)
c.1985A>G (p.Gln662Arg)
n.244A>G
c.935A>G (p.Gln312Arg)
c.884A>G (p.Gln295Arg)
c.986A>G (p.Gln329Arg)
c.896A>G (p.Gln299Arg)
c.887A>G (p.Gln296Arg)
3g.123325425T>GCA354218557ADCY5c.662A>C (p.Gln221Pro)
c.950A>C (p.Gln317Pro)
c.1985A>C (p.Gln662Pro)
n.244A>C
c.935A>C (p.Gln312Pro)
c.884A>C (p.Gln295Pro)
c.986A>C (p.Gln329Pro)
c.896A>C (p.Gln299Pro)
c.887A>C (p.Gln296Pro)
3g.123325426G>ACA354218560ADCY5c.661C>T (p.Gln221Ter)
c.949C>T (p.Gln317Ter)
c.1984C>T (p.Gln662Ter)
n.243C>T
c.934C>T (p.Gln312Ter)
c.883C>T (p.Gln295Ter)
c.985C>T (p.Gln329Ter)
c.895C>T (p.Gln299Ter)
c.886C>T (p.Gln296Ter)
dbSNP
3g.123325426G>CCA354218561ADCY5c.661C>G (p.Gln221Glu)
c.949C>G (p.Gln317Glu)
c.1984C>G (p.Gln662Glu)
n.243C>G
c.934C>G (p.Gln312Glu)
c.883C>G (p.Gln295Glu)
c.985C>G (p.Gln329Glu)
c.895C>G (p.Gln299Glu)
c.886C>G (p.Gln296Glu)
3g.123325426G=CA1398346274ADCY5c.661C= (p.Gln221=)
c.949C= (p.Gln317=)
c.1984C= (p.Gln662=)
n.243C=
c.934C= (p.Gln312=)
c.883C= (p.Gln295=)
c.985C= (p.Gln329=)
c.895C= (p.Gln299=)
c.886C= (p.Gln296=)
3g.123325426G>TCA354218562ADCY5c.661C>A (p.Gln221Lys)
c.949C>A (p.Gln317Lys)
c.1984C>A (p.Gln662Lys)
n.243C>A
c.934C>A (p.Gln312Lys)
c.883C>A (p.Gln295Lys)
c.985C>A (p.Gln329Lys)
c.895C>A (p.Gln299Lys)
c.886C>A (p.Gln296Lys)
3g.123325427G>ACA435293381ADCY5c.660C>T (p.Arg220=)
c.948C>T (p.Arg316=)
c.1983C>T (p.Arg661=)
n.242C>T
c.933C>T (p.Arg311=)
c.882C>T (p.Arg294=)
c.984C>T (p.Arg328=)
c.894C>T (p.Arg298=)
c.885C>T (p.Arg295=)
COSMIC
3g.123325427G>CCA435293382ADCY5c.660C>G (p.Arg220=)
c.948C>G (p.Arg316=)
c.1983C>G (p.Arg661=)
n.242C>G
c.933C>G (p.Arg311=)
c.882C>G (p.Arg294=)
c.984C>G (p.Arg328=)
c.894C>G (p.Arg298=)
c.885C>G (p.Arg295=)
3g.123325427G>TCA435293383ADCY5c.660C>A (p.Arg220=)
c.948C>A (p.Arg316=)
c.1983C>A (p.Arg661=)
n.242C>A
c.933C>A (p.Arg311=)
c.882C>A (p.Arg294=)
c.984C>A (p.Arg328=)
c.894C>A (p.Arg298=)
c.885C>A (p.Arg295=)
3g.123325428C>ACA354218563ADCY5c.659G>T (p.Arg220Leu)
c.947G>T (p.Arg316Leu)
c.1982G>T (p.Arg661Leu)
n.241G>T
c.932G>T (p.Arg311Leu)
c.881G>T (p.Arg294Leu)
c.983G>T (p.Arg328Leu)
c.893G>T (p.Arg298Leu)
c.884G>T (p.Arg295Leu)
gnomAD v4
3g.123325428C=CA1398346275ADCY5c.659G= (p.Arg220=)
c.947G= (p.Arg316=)
c.1982G= (p.Arg661=)
n.241G=
c.932G= (p.Arg311=)
c.881G= (p.Arg294=)
c.983G= (p.Arg328=)
c.893G= (p.Arg298=)
c.884G= (p.Arg295=)
3g.123325428C>GCA354218564ADCY5c.659G>C (p.Arg220Pro)
c.947G>C (p.Arg316Pro)
c.1982G>C (p.Arg661Pro)
n.241G>C
c.932G>C (p.Arg311Pro)
c.881G>C (p.Arg294Pro)
c.983G>C (p.Arg328Pro)
c.893G>C (p.Arg298Pro)
c.884G>C (p.Arg295Pro)
3g.123325428C>TCA2577290ADCY5c.659G>A (p.Arg220His)
c.947G>A (p.Arg316His)
c.1982G>A (p.Arg661His)
n.241G>A
c.932G>A (p.Arg311His)
c.881G>A (p.Arg294His)
c.983G>A (p.Arg328His)
c.893G>A (p.Arg298His)
c.884G>A (p.Arg295His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.123325429G>ACA2577291ADCY5c.658C>T (p.Arg220Cys)
c.946C>T (p.Arg316Cys)
c.1981C>T (p.Arg661Cys)
n.240C>T
c.931C>T (p.Arg311Cys)
c.880C>T (p.Arg294Cys)
c.982C>T (p.Arg328Cys)
c.892C>T (p.Arg298Cys)
c.883C>T (p.Arg295Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.123325429G>CCA354218566ADCY5c.658C>G (p.Arg220Gly)
c.946C>G (p.Arg316Gly)
c.1981C>G (p.Arg661Gly)
n.240C>G
c.931C>G (p.Arg311Gly)
c.880C>G (p.Arg294Gly)
c.982C>G (p.Arg328Gly)
c.892C>G (p.Arg298Gly)
c.883C>G (p.Arg295Gly)
3g.123325429G=CA1398346276ADCY5c.658C= (p.Arg220=)
c.946C= (p.Arg316=)
c.1981C= (p.Arg661=)
n.240C=
c.931C= (p.Arg311=)
c.880C= (p.Arg294=)
c.982C= (p.Arg328=)
c.892C= (p.Arg298=)
c.883C= (p.Arg295=)
3g.123325429G>TCA354218565ADCY5c.658C>A (p.Arg220Ser)
c.946C>A (p.Arg316Ser)
c.1981C>A (p.Arg661Ser)
n.240C>A
c.931C>A (p.Arg311Ser)
c.880C>A (p.Arg294Ser)
c.982C>A (p.Arg328Ser)
c.892C>A (p.Arg298Ser)
c.883C>A (p.Arg295Ser)
3g.123325430G>ACA435293384ADCY5c.657C>T (p.Asn219=)
c.945C>T (p.Asn315=)
c.1980C>T (p.Asn660=)
n.239C>T
c.930C>T (p.Asn310=)
c.879C>T (p.Asn293=)
c.981C>T (p.Asn327=)
c.891C>T (p.Asn297=)
c.882C>T (p.Asn294=)
3g.123325430G>CCA354218567ADCY5c.657C>G (p.Asn219Lys)
c.945C>G (p.Asn315Lys)
c.1980C>G (p.Asn660Lys)
n.239C>G
c.930C>G (p.Asn310Lys)
c.879C>G (p.Asn293Lys)
c.981C>G (p.Asn327Lys)
c.891C>G (p.Asn297Lys)
c.882C>G (p.Asn294Lys)
3g.123325430G>TCA354218568ADCY5c.657C>A (p.Asn219Lys)
c.945C>A (p.Asn315Lys)
c.1980C>A (p.Asn660Lys)
n.239C>A
c.930C>A (p.Asn310Lys)
c.879C>A (p.Asn293Lys)
c.981C>A (p.Asn327Lys)
c.891C>A (p.Asn297Lys)
c.882C>A (p.Asn294Lys)
3g.123325431T>ACA354218569ADCY5c.656A>T (p.Asn219Ile)
c.944A>T (p.Asn315Ile)
c.1979A>T (p.Asn660Ile)
n.238A>T
c.929A>T (p.Asn310Ile)
c.878A>T (p.Asn293Ile)
c.980A>T (p.Asn327Ile)
c.890A>T (p.Asn297Ile)
c.881A>T (p.Asn294Ile)
3g.123325431T>CCA354218570ADCY5c.656A>G (p.Asn219Ser)
c.944A>G (p.Asn315Ser)
c.1979A>G (p.Asn660Ser)
n.238A>G
c.929A>G (p.Asn310Ser)
c.878A>G (p.Asn293Ser)
c.980A>G (p.Asn327Ser)
c.890A>G (p.Asn297Ser)
c.881A>G (p.Asn294Ser)
3g.123325431T>GCA354218571ADCY5c.656A>C (p.Asn219Thr)
c.944A>C (p.Asn315Thr)
c.1979A>C (p.Asn660Thr)
n.238A>C
c.929A>C (p.Asn310Thr)
c.878A>C (p.Asn293Thr)
c.980A>C (p.Asn327Thr)
c.890A>C (p.Asn297Thr)
c.881A>C (p.Asn294Thr)
dbSNP
3g.123325431T=CA1398346277ADCY5c.656A= (p.Asn219=)
c.944A= (p.Asn315=)
c.1979A= (p.Asn660=)
n.238A=
c.929A= (p.Asn310=)
c.878A= (p.Asn293=)
c.980A= (p.Asn327=)
c.890A= (p.Asn297=)
c.881A= (p.Asn294=)
3g.123325432T>ACA354218573ADCY5c.655A>T (p.Asn219Tyr)
c.943A>T (p.Asn315Tyr)
c.1978A>T (p.Asn660Tyr)
n.237A>T
c.928A>T (p.Asn310Tyr)
c.877A>T (p.Asn293Tyr)
c.979A>T (p.Asn327Tyr)
c.889A>T (p.Asn297Tyr)
c.880A>T (p.Asn294Tyr)
COSMIC
3g.123325432T>CCA354218574ADCY5c.655A>G (p.Asn219Asp)
c.943A>G (p.Asn315Asp)
c.1978A>G (p.Asn660Asp)
n.237A>G
c.928A>G (p.Asn310Asp)
c.877A>G (p.Asn293Asp)
c.979A>G (p.Asn327Asp)
c.889A>G (p.Asn297Asp)
c.880A>G (p.Asn294Asp)
3g.123325432T>GCA354218572ADCY5c.655A>C (p.Asn219His)
c.943A>C (p.Asn315His)
c.1978A>C (p.Asn660His)
n.237A>C
c.928A>C (p.Asn310His)
c.877A>C (p.Asn293His)
c.979A>C (p.Asn327His)
c.889A>C (p.Asn297His)
c.880A>C (p.Asn294His)
3g.123325433C>ACA354218576ADCY5c.654G>T (p.Met218Ile)
c.942G>T (p.Met314Ile)
c.1977G>T (p.Met659Ile)
n.236G>T
c.927G>T (p.Met309Ile)
c.876G>T (p.Met292Ile)
c.978G>T (p.Met326Ile)
c.888G>T (p.Met296Ile)
c.879G>T (p.Met293Ile)
3g.123325433C=CA1398346278ADCY5c.654G= (p.Met218=)
c.942G= (p.Met314=)
c.1977G= (p.Met659=)
n.236G=
c.927G= (p.Met309=)
c.876G= (p.Met292=)
c.978G= (p.Met326=)
c.888G= (p.Met296=)
c.879G= (p.Met293=)
3g.123325433C>GCA354218575ADCY5c.654G>C (p.Met218Ile)
c.942G>C (p.Met314Ile)
c.1977G>C (p.Met659Ile)
n.236G>C
c.927G>C (p.Met309Ile)
c.876G>C (p.Met292Ile)
c.978G>C (p.Met326Ile)
c.888G>C (p.Met296Ile)
c.879G>C (p.Met293Ile)
3g.123325433C>TCA82899348ADCY5c.654G>A (p.Met218Ile)
c.942G>A (p.Met314Ile)
c.1977G>A (p.Met659Ile)
n.236G>A
c.927G>A (p.Met309Ile)
c.876G>A (p.Met292Ile)
c.978G>A (p.Met326Ile)
c.888G>A (p.Met296Ile)
c.879G>A (p.Met293Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.123325434A>CCA354218577ADCY5c.653T>G (p.Met218Arg)
c.941T>G (p.Met314Arg)
c.1976T>G (p.Met659Arg)
n.235T>G
c.926T>G (p.Met309Arg)
c.875T>G (p.Met292Arg)
c.977T>G (p.Met326Arg)
c.887T>G (p.Met296Arg)
c.878T>G (p.Met293Arg)
3g.123325434A>GCA354218579ADCY5c.653T>C (p.Met218Thr)
c.941T>C (p.Met314Thr)
c.1976T>C (p.Met659Thr)
n.235T>C
c.926T>C (p.Met309Thr)
c.875T>C (p.Met292Thr)
c.977T>C (p.Met326Thr)
c.887T>C (p.Met296Thr)
c.878T>C (p.Met293Thr)
3g.123325434A>TCA354218578ADCY5c.653T>A (p.Met218Lys)
c.941T>A (p.Met314Lys)
c.1976T>A (p.Met659Lys)
n.235T>A
c.926T>A (p.Met309Lys)
c.875T>A (p.Met292Lys)
c.977T>A (p.Met326Lys)
c.887T>A (p.Met296Lys)
c.878T>A (p.Met293Lys)
3g.123325435T>ACA354218580ADCY5c.652A>T (p.Met218Leu)
c.940A>T (p.Met314Leu)
c.1975A>T (p.Met659Leu)
n.234A>T
c.925A>T (p.Met309Leu)
c.874A>T (p.Met292Leu)
c.976A>T (p.Met326Leu)
c.886A>T (p.Met296Leu)
c.877A>T (p.Met293Leu)
3g.123325435T>CCA2577292ADCY5c.652A>G (p.Met218Val)
c.940A>G (p.Met314Val)
c.1975A>G (p.Met659Val)
n.234A>G
c.925A>G (p.Met309Val)
c.874A>G (p.Met292Val)
c.976A>G (p.Met326Val)
c.886A>G (p.Met296Val)
c.877A>G (p.Met293Val)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.123325435T>GCA354218581ADCY5c.652A>C (p.Met218Leu)
c.940A>C (p.Met314Leu)
c.1975A>C (p.Met659Leu)
n.234A>C
c.925A>C (p.Met309Leu)
c.874A>C (p.Met292Leu)
c.976A>C (p.Met326Leu)
c.886A>C (p.Met296Leu)
c.877A>C (p.Met293Leu)
3g.123325435T=CA1398346279ADCY5c.652A= (p.Met218=)
c.940A= (p.Met314=)
c.1975A= (p.Met659=)
n.234A=
c.925A= (p.Met309=)
c.874A= (p.Met292=)
c.976A= (p.Met326=)
c.886A= (p.Met296=)
c.877A= (p.Met293=)
3g.123325436C>ACA354218582ADCY5c.651G>T (p.Lys217Asn)
c.939G>T (p.Lys313Asn)
c.1974G>T (p.Lys658Asn)
n.233G>T
c.924G>T (p.Lys308Asn)
c.873G>T (p.Lys291Asn)
c.975G>T (p.Lys325Asn)
c.885G>T (p.Lys295Asn)
c.876G>T (p.Lys292Asn)
3g.123325436C=CA1398346280ADCY5c.651G= (p.Lys217=)
c.939G= (p.Lys313=)
c.1974G= (p.Lys658=)
n.233G=
c.924G= (p.Lys308=)
c.873G= (p.Lys291=)
c.975G= (p.Lys325=)
c.885G= (p.Lys295=)
c.876G= (p.Lys292=)
3g.123325436C>GCA354218583ADCY5c.651G>C (p.Lys217Asn)
c.939G>C (p.Lys313Asn)
c.1974G>C (p.Lys658Asn)
n.233G>C
c.924G>C (p.Lys308Asn)
c.873G>C (p.Lys291Asn)
c.975G>C (p.Lys325Asn)
c.885G>C (p.Lys295Asn)
c.876G>C (p.Lys292Asn)
3g.123325436C>TCA2577293ADCY5c.651G>A (p.Lys217=)
c.939G>A (p.Lys313=)
c.1974G>A (p.Lys658=)
n.233G>A
c.924G>A (p.Lys308=)
c.873G>A (p.Lys291=)
c.975G>A (p.Lys325=)
c.885G>A (p.Lys295=)
c.876G>A (p.Lys292=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123325437T>ACA354218584ADCY5c.650A>T (p.Lys217Met)
c.938A>T (p.Lys313Met)
c.1973A>T (p.Lys658Met)
n.232A>T
c.923A>T (p.Lys308Met)
c.872A>T (p.Lys291Met)
c.974A>T (p.Lys325Met)
c.884A>T (p.Lys295Met)
c.875A>T (p.Lys292Met)
3g.123325437T>CCA354218585ADCY5c.650A>G (p.Lys217Arg)
c.938A>G (p.Lys313Arg)
c.1973A>G (p.Lys658Arg)
n.232A>G
c.923A>G (p.Lys308Arg)
c.872A>G (p.Lys291Arg)
c.974A>G (p.Lys325Arg)
c.884A>G (p.Lys295Arg)
c.875A>G (p.Lys292Arg)
dbSNP
3g.123325437T>GCA354218586ADCY5c.650A>C (p.Lys217Thr)
c.938A>C (p.Lys313Thr)
c.1973A>C (p.Lys658Thr)
n.232A>C
c.923A>C (p.Lys308Thr)
c.872A>C (p.Lys291Thr)
c.974A>C (p.Lys325Thr)
c.884A>C (p.Lys295Thr)
c.875A>C (p.Lys292Thr)
3g.123325437T=CA1398346281ADCY5c.650A= (p.Lys217=)
c.938A= (p.Lys313=)
c.1973A= (p.Lys658=)
n.232A=
c.923A= (p.Lys308=)
c.872A= (p.Lys291=)
c.974A= (p.Lys325=)
c.884A= (p.Lys295=)
c.875A= (p.Lys292=)
3g.123325438T>ACA354218587ADCY5c.649A>T (p.Lys217Ter)
c.937A>T (p.Lys313Ter)
c.1972A>T (p.Lys658Ter)
n.231A>T
c.922A>T (p.Lys308Ter)
c.871A>T (p.Lys291Ter)
c.973A>T (p.Lys325Ter)
c.883A>T (p.Lys295Ter)
c.874A>T (p.Lys292Ter)
dbSNP
3g.123325438T>CCA354218588ADCY5c.649A>G (p.Lys217Glu)
c.937A>G (p.Lys313Glu)
c.1972A>G (p.Lys658Glu)
n.231A>G
c.922A>G (p.Lys308Glu)
c.871A>G (p.Lys291Glu)
c.973A>G (p.Lys325Glu)
c.883A>G (p.Lys295Glu)
c.874A>G (p.Lys292Glu)
3g.123325438T>GCA354218589ADCY5c.649A>C (p.Lys217Gln)
c.937A>C (p.Lys313Gln)
c.1972A>C (p.Lys658Gln)
n.231A>C
c.922A>C (p.Lys308Gln)
c.871A>C (p.Lys291Gln)
c.973A>C (p.Lys325Gln)
c.883A>C (p.Lys295Gln)
c.874A>C (p.Lys292Gln)
3g.123325438T=CA1398346282ADCY5c.649A= (p.Lys217=)
c.937A= (p.Lys313=)
c.1972A= (p.Lys658=)
n.231A=
c.922A= (p.Lys308=)
c.871A= (p.Lys291=)
c.973A= (p.Lys325=)
c.883A= (p.Lys295=)
c.874A= (p.Lys292=)
3g.123325439G>ACA435293387ADCY5c.648C>T (p.Ala216=)
c.936C>T (p.Ala312=)
c.1971C>T (p.Ala657=)
n.230C>T
c.921C>T (p.Ala307=)
c.870C>T (p.Ala290=)
c.972C>T (p.Ala324=)
c.882C>T (p.Ala294=)
c.873C>T (p.Ala291=)
3g.123325439G>CCA435293386ADCY5c.648C>G (p.Ala216=)
c.936C>G (p.Ala312=)
c.1971C>G (p.Ala657=)
n.230C>G
c.921C>G (p.Ala307=)
c.870C>G (p.Ala290=)
c.972C>G (p.Ala324=)
c.882C>G (p.Ala294=)
c.873C>G (p.Ala291=)
3g.123325439G=CA1398346283ADCY5c.648C= (p.Ala216=)
c.936C= (p.Ala312=)
c.1971C= (p.Ala657=)
n.230C=
c.921C= (p.Ala307=)
c.870C= (p.Ala290=)
c.972C= (p.Ala324=)
c.882C= (p.Ala294=)
c.873C= (p.Ala291=)
3g.123325439G>TCA82899373ADCY5c.648C>A (p.Ala216=)
c.936C>A (p.Ala312=)
c.1971C>A (p.Ala657=)
n.230C>A
c.921C>A (p.Ala307=)
c.870C>A (p.Ala290=)
c.972C>A (p.Ala324=)
c.882C>A (p.Ala294=)
c.873C>A (p.Ala291=)
dbSNP
3g.123325440G>ACA354218590ADCY5c.647C>T (p.Ala216Val)
c.935C>T (p.Ala312Val)
c.1970C>T (p.Ala657Val)
n.229C>T
c.920C>T (p.Ala307Val)
c.869C>T (p.Ala290Val)
c.971C>T (p.Ala324Val)
c.881C>T (p.Ala294Val)
c.872C>T (p.Ala291Val)
dbSNP gnomAD v2
3g.123325440G>CCA354218591ADCY5c.647C>G (p.Ala216Gly)
c.935C>G (p.Ala312Gly)
c.1970C>G (p.Ala657Gly)
n.229C>G
c.920C>G (p.Ala307Gly)
c.869C>G (p.Ala290Gly)
c.971C>G (p.Ala324Gly)
c.881C>G (p.Ala294Gly)
c.872C>G (p.Ala291Gly)
3g.123325440G=CA1398346284ADCY5c.647C= (p.Ala216=)
c.935C= (p.Ala312=)
c.1970C= (p.Ala657=)
n.229C=
c.920C= (p.Ala307=)
c.869C= (p.Ala290=)
c.971C= (p.Ala324=)
c.881C= (p.Ala294=)
c.872C= (p.Ala291=)
3g.123325440G>TCA354218592ADCY5c.647C>A (p.Ala216Asp)
c.935C>A (p.Ala312Asp)
c.1970C>A (p.Ala657Asp)
n.229C>A
c.920C>A (p.Ala307Asp)
c.869C>A (p.Ala290Asp)
c.971C>A (p.Ala324Asp)
c.881C>A (p.Ala294Asp)
c.872C>A (p.Ala291Asp)
3g.123325441C>ACA354218593ADCY5c.646G>T (p.Ala216Ser)
c.934G>T (p.Ala312Ser)
c.1969G>T (p.Ala657Ser)
n.228G>T
c.919G>T (p.Ala307Ser)
c.868G>T (p.Ala290Ser)
c.970G>T (p.Ala324Ser)
c.880G>T (p.Ala294Ser)
c.871G>T (p.Ala291Ser)
dbSNP gnomAD v3 gnomAD v4
3g.123325441C=CA1398346285ADCY5c.646G= (p.Ala216=)
c.934G= (p.Ala312=)
c.1969G= (p.Ala657=)
n.228G=
c.919G= (p.Ala307=)
c.868G= (p.Ala290=)
c.970G= (p.Ala324=)
c.880G= (p.Ala294=)
c.871G= (p.Ala291=)
3g.123325441C>GCA354218594ADCY5c.646G>C (p.Ala216Pro)
c.934G>C (p.Ala312Pro)
c.1969G>C (p.Ala657Pro)
n.228G>C
c.919G>C (p.Ala307Pro)
c.868G>C (p.Ala290Pro)
c.970G>C (p.Ala324Pro)
c.880G>C (p.Ala294Pro)
c.871G>C (p.Ala291Pro)
3g.123325441C>TCA2577294ADCY5c.646G>A (p.Ala216Thr)
c.934G>A (p.Ala312Thr)
c.1969G>A (p.Ala657Thr)
n.228G>A
c.919G>A (p.Ala307Thr)
c.868G>A (p.Ala290Thr)
c.970G>A (p.Ala324Thr)
c.880G>A (p.Ala294Thr)
c.871G>A (p.Ala291Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.123325442G>ACA2577295ADCY5c.645C>T (p.Ile215=)
c.933C>T (p.Ile311=)
c.1968C>T (p.Ile656=)
n.227C>T
c.918C>T (p.Ile306=)
c.867C>T (p.Ile289=)
c.969C>T (p.Ile323=)
c.879C>T (p.Ile293=)
c.870C>T (p.Ile290=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.123325442G>CCA354218595ADCY5c.645C>G (p.Ile215Met)
c.933C>G (p.Ile311Met)
c.1968C>G (p.Ile656Met)
n.227C>G
c.918C>G (p.Ile306Met)
c.867C>G (p.Ile289Met)
c.969C>G (p.Ile323Met)
c.879C>G (p.Ile293Met)
c.870C>G (p.Ile290Met)
gnomAD v4
3g.123325442G=CA1398346286ADCY5c.645C= (p.Ile215=)
c.933C= (p.Ile311=)
c.1968C= (p.Ile656=)
n.227C=
c.918C= (p.Ile306=)
c.867C= (p.Ile289=)
c.969C= (p.Ile323=)
c.879C= (p.Ile293=)
c.870C= (p.Ile290=)
3g.123325442G>TCA435293388ADCY5c.645C>A (p.Ile215=)
c.933C>A (p.Ile311=)
c.1968C>A (p.Ile656=)
n.227C>A
c.918C>A (p.Ile306=)
c.867C>A (p.Ile289=)
c.969C>A (p.Ile323=)
c.879C>A (p.Ile293=)
c.870C>A (p.Ile290=)
3g.123325443A>CCA354218596ADCY5c.644T>G (p.Ile215Ser)
c.932T>G (p.Ile311Ser)
c.1967T>G (p.Ile656Ser)
n.226T>G
c.917T>G (p.Ile306Ser)
c.866T>G (p.Ile289Ser)
c.968T>G (p.Ile323Ser)
c.878T>G (p.Ile293Ser)
c.869T>G (p.Ile290Ser)
3g.123325443A>GCA354218597ADCY5c.644T>C (p.Ile215Thr)
c.932T>C (p.Ile311Thr)
c.1967T>C (p.Ile656Thr)
n.226T>C
c.917T>C (p.Ile306Thr)
c.866T>C (p.Ile289Thr)
c.968T>C (p.Ile323Thr)
c.878T>C (p.Ile293Thr)
c.869T>C (p.Ile290Thr)
3g.123325443A>TCA354218598ADCY5c.644T>A (p.Ile215Asn)
c.932T>A (p.Ile311Asn)
c.1967T>A (p.Ile656Asn)
n.226T>A
c.917T>A (p.Ile306Asn)
c.866T>A (p.Ile289Asn)
c.968T>A (p.Ile323Asn)
c.878T>A (p.Ile293Asn)
c.869T>A (p.Ile290Asn)
3g.123325444T>ACA354218599ADCY5c.643A>T (p.Ile215Phe)
c.931A>T (p.Ile311Phe)
c.1966A>T (p.Ile656Phe)
n.225A>T
c.916A>T (p.Ile306Phe)
c.865A>T (p.Ile289Phe)
c.967A>T (p.Ile323Phe)
c.877A>T (p.Ile293Phe)
c.868A>T (p.Ile290Phe)
3g.123325444T>CCA354218600ADCY5c.643A>G (p.Ile215Val)
c.931A>G (p.Ile311Val)
c.1966A>G (p.Ile656Val)
n.225A>G
c.916A>G (p.Ile306Val)
c.865A>G (p.Ile289Val)
c.967A>G (p.Ile323Val)
c.877A>G (p.Ile293Val)
c.868A>G (p.Ile290Val)
gnomAD v4
3g.123325444T>GCA354218601ADCY5c.643A>C (p.Ile215Leu)
c.931A>C (p.Ile311Leu)
c.1966A>C (p.Ile656Leu)
n.225A>C
c.916A>C (p.Ile306Leu)
c.865A>C (p.Ile289Leu)
c.967A>C (p.Ile323Leu)
c.877A>C (p.Ile293Leu)
c.868A>C (p.Ile290Leu)
3g.123325445C>ACA354218602ADCY5c.642G>T (p.Met214Ile)
c.930G>T (p.Met310Ile)
c.1965G>T (p.Met655Ile)
n.224G>T
c.915G>T (p.Met305Ile)
c.864G>T (p.Met288Ile)
c.966G>T (p.Met322Ile)
c.876G>T (p.Met292Ile)
c.867G>T (p.Met289Ile)
3g.123325445C>GCA354218604ADCY5c.642G>C (p.Met214Ile)
c.930G>C (p.Met310Ile)
c.1965G>C (p.Met655Ile)
n.224G>C
c.915G>C (p.Met305Ile)
c.864G>C (p.Met288Ile)
c.966G>C (p.Met322Ile)
c.876G>C (p.Met292Ile)
c.867G>C (p.Met289Ile)
3g.123325445C>TCA354218603ADCY5c.642G>A (p.Met214Ile)
c.930G>A (p.Met310Ile)
c.1965G>A (p.Met655Ile)
n.224G>A
c.915G>A (p.Met305Ile)
c.864G>A (p.Met288Ile)
c.966G>A (p.Met322Ile)
c.876G>A (p.Met292Ile)
c.867G>A (p.Met289Ile)
3g.123325446A=CA1398346287ADCY5c.641T= (p.Met214=)
c.929T= (p.Met310=)
c.1964T= (p.Met655=)
n.223T=
c.914T= (p.Met305=)
c.863T= (p.Met288=)
c.965T= (p.Met322=)
c.875T= (p.Met292=)
c.866T= (p.Met289=)
3g.123325446A>CCA354218605ADCY5c.641T>G (p.Met214Arg)
c.929T>G (p.Met310Arg)
c.1964T>G (p.Met655Arg)
n.223T>G
c.914T>G (p.Met305Arg)
c.863T>G (p.Met288Arg)
c.965T>G (p.Met322Arg)
c.875T>G (p.Met292Arg)
c.866T>G (p.Met289Arg)
3g.123325446A>GCA354218606ADCY5c.641T>C (p.Met214Thr)
c.929T>C (p.Met310Thr)
c.1964T>C (p.Met655Thr)
n.223T>C
c.914T>C (p.Met305Thr)
c.863T>C (p.Met288Thr)
c.965T>C (p.Met322Thr)
c.875T>C (p.Met292Thr)
c.866T>C (p.Met289Thr)
dbSNP gnomAD v2 gnomAD v4
3g.123325446A>TCA354218607ADCY5c.641T>A (p.Met214Lys)
c.929T>A (p.Met310Lys)
c.1964T>A (p.Met655Lys)
n.223T>A
c.914T>A (p.Met305Lys)
c.863T>A (p.Met288Lys)
c.965T>A (p.Met322Lys)
c.875T>A (p.Met292Lys)
c.866T>A (p.Met289Lys)
gnomAD v4
3g.123325447T>ACA354218608ADCY5c.640A>T (p.Met214Leu)
c.928A>T (p.Met310Leu)
c.1963A>T (p.Met655Leu)
n.222A>T
c.913A>T (p.Met305Leu)
c.862A>T (p.Met288Leu)
c.964A>T (p.Met322Leu)
c.874A>T (p.Met292Leu)
c.865A>T (p.Met289Leu)
3g.123325447T>CCA2577296ADCY5c.640A>G (p.Met214Val)
c.928A>G (p.Met310Val)
c.1963A>G (p.Met655Val)
n.222A>G
c.913A>G (p.Met305Val)
c.862A>G (p.Met288Val)
c.964A>G (p.Met322Val)
c.874A>G (p.Met292Val)
c.865A>G (p.Met289Val)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.123325447T>GCA354218609ADCY5c.640A>C (p.Met214Leu)
c.928A>C (p.Met310Leu)
c.1963A>C (p.Met655Leu)
n.222A>C
c.913A>C (p.Met305Leu)
c.862A>C (p.Met288Leu)
c.964A>C (p.Met322Leu)
c.874A>C (p.Met292Leu)
c.865A>C (p.Met289Leu)
3g.123325447T=CA1398346288ADCY5c.640A= (p.Met214=)
c.928A= (p.Met310=)
c.1963A= (p.Met655=)
n.222A=
c.913A= (p.Met305=)
c.862A= (p.Met288=)
c.964A= (p.Met322=)
c.874A= (p.Met292=)
c.865A= (p.Met289=)
3g.123325448G>ACA435293389ADCY5c.639C>T (p.Ala213=)
c.927C>T (p.Ala309=)
c.1962C>T (p.Ala654=)
n.221C>T
c.912C>T (p.Ala304=)
c.861C>T (p.Ala287=)
c.963C>T (p.Ala321=)
c.873C>T (p.Ala291=)
c.864C>T (p.Ala288=)
3g.123325448G>CCA435293390ADCY5c.639C>G (p.Ala213=)
c.927C>G (p.Ala309=)
c.1962C>G (p.Ala654=)
n.221C>G
c.912C>G (p.Ala304=)
c.861C>G (p.Ala287=)
c.963C>G (p.Ala321=)
c.873C>G (p.Ala291=)
c.864C>G (p.Ala288=)
3g.123325448G>TCA435293391ADCY5c.639C>A (p.Ala213=)
c.927C>A (p.Ala309=)
c.1962C>A (p.Ala654=)
n.221C>A
c.912C>A (p.Ala304=)
c.861C>A (p.Ala287=)
c.963C>A (p.Ala321=)
c.873C>A (p.Ala291=)
c.864C>A (p.Ala288=)
3g.123325449G>ACA354218610ADCY5c.638C>T (p.Ala213Val)
c.926C>T (p.Ala309Val)
c.1961C>T (p.Ala654Val)
n.220C>T
c.911C>T (p.Ala304Val)
c.860C>T (p.Ala287Val)
c.962C>T (p.Ala321Val)
c.872C>T (p.Ala291Val)
c.863C>T (p.Ala288Val)
3g.123325449G>CCA354218611ADCY5c.638C>G (p.Ala213Gly)
c.926C>G (p.Ala309Gly)
c.1961C>G (p.Ala654Gly)
n.220C>G
c.911C>G (p.Ala304Gly)
c.860C>G (p.Ala287Gly)
c.962C>G (p.Ala321Gly)
c.872C>G (p.Ala291Gly)
c.863C>G (p.Ala288Gly)
dbSNP gnomAD v2 gnomAD v4
3g.123325449G=CA1398346289ADCY5c.638C= (p.Ala213=)
c.926C= (p.Ala309=)
c.1961C= (p.Ala654=)
n.220C=
c.911C= (p.Ala304=)
c.860C= (p.Ala287=)
c.962C= (p.Ala321=)
c.872C= (p.Ala291=)
c.863C= (p.Ala288=)
3g.123325449G>TCA354218612ADCY5c.638C>A (p.Ala213Asp)
c.926C>A (p.Ala309Asp)
c.1961C>A (p.Ala654Asp)
n.220C>A
c.911C>A (p.Ala304Asp)
c.860C>A (p.Ala287Asp)
c.962C>A (p.Ala321Asp)
c.872C>A (p.Ala291Asp)
c.863C>A (p.Ala288Asp)
3g.123325450C>ACA354218613ADCY5c.637G>T (p.Ala213Ser)
c.925G>T (p.Ala309Ser)
c.1960G>T (p.Ala654Ser)
n.219G>T
c.910G>T (p.Ala304Ser)
c.859G>T (p.Ala287Ser)
c.961G>T (p.Ala321Ser)
c.871G>T (p.Ala291Ser)
c.862G>T (p.Ala288Ser)
3g.123325450C=CA1398346290ADCY5c.637G= (p.Ala213=)
c.925G= (p.Ala309=)
c.1960G= (p.Ala654=)
n.219G=
c.910G= (p.Ala304=)
c.859G= (p.Ala287=)
c.961G= (p.Ala321=)
c.871G= (p.Ala291=)
c.862G= (p.Ala288=)
3g.123325450C>GCA354218614ADCY5c.637G>C (p.Ala213Pro)
c.925G>C (p.Ala309Pro)
c.1960G>C (p.Ala654Pro)
n.219G>C
c.910G>C (p.Ala304Pro)
c.859G>C (p.Ala287Pro)
c.961G>C (p.Ala321Pro)
c.871G>C (p.Ala291Pro)
c.862G>C (p.Ala288Pro)
dbSNP
3g.123325450C>TCA2577297ADCY5c.637G>A (p.Ala213Thr)
c.925G>A (p.Ala309Thr)
c.1960G>A (p.Ala654Thr)
n.219G>A
c.910G>A (p.Ala304Thr)
c.859G>A (p.Ala287Thr)
c.961G>A (p.Ala321Thr)
c.871G>A (p.Ala291Thr)
c.862G>A (p.Ala288Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.123325451C>ACA354218616ADCY5c.636G>T (p.Lys212Asn)
c.924G>T (p.Lys308Asn)
c.1959G>T (p.Lys653Asn)
n.218G>T
c.909G>T (p.Lys303Asn)
c.858G>T (p.Lys286Asn)
c.960G>T (p.Lys320Asn)
c.870G>T (p.Lys290Asn)
c.861G>T (p.Lys287Asn)
COSMIC
3g.123325451C>GCA354218615ADCY5c.636G>C (p.Lys212Asn)
c.924G>C (p.Lys308Asn)
c.1959G>C (p.Lys653Asn)
n.218G>C
c.909G>C (p.Lys303Asn)
c.858G>C (p.Lys286Asn)
c.960G>C (p.Lys320Asn)
c.870G>C (p.Lys290Asn)
c.861G>C (p.Lys287Asn)
3g.123325451C>TCA435293393ADCY5c.636G>A (p.Lys212=)
c.924G>A (p.Lys308=)
c.1959G>A (p.Lys653=)
n.218G>A
c.909G>A (p.Lys303=)
c.858G>A (p.Lys286=)
c.960G>A (p.Lys320=)
c.870G>A (p.Lys290=)
c.861G>A (p.Lys287=)
3g.123325452T>ACA354218617ADCY5c.635A>T (p.Lys212Met)
c.923A>T (p.Lys308Met)
c.1958A>T (p.Lys653Met)
n.217A>T
c.908A>T (p.Lys303Met)
c.857A>T (p.Lys286Met)
c.959A>T (p.Lys320Met)
c.869A>T (p.Lys290Met)
c.860A>T (p.Lys287Met)
3g.123325452T>CCA354218618ADCY5c.635A>G (p.Lys212Arg)
c.923A>G (p.Lys308Arg)
c.1958A>G (p.Lys653Arg)
n.217A>G
c.908A>G (p.Lys303Arg)
c.857A>G (p.Lys286Arg)
c.959A>G (p.Lys320Arg)
c.869A>G (p.Lys290Arg)
c.860A>G (p.Lys287Arg)
3g.123325452T>GCA2577298ADCY5c.635A>C (p.Lys212Thr)
c.923A>C (p.Lys308Thr)
c.1958A>C (p.Lys653Thr)
n.217A>C
c.908A>C (p.Lys303Thr)
c.857A>C (p.Lys286Thr)
c.959A>C (p.Lys320Thr)
c.869A>C (p.Lys290Thr)
c.860A>C (p.Lys287Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123325452T=CA1398346291ADCY5c.635A= (p.Lys212=)
c.923A= (p.Lys308=)
c.1958A= (p.Lys653=)
n.217A=
c.908A= (p.Lys303=)
c.857A= (p.Lys286=)
c.959A= (p.Lys320=)
c.869A= (p.Lys290=)
c.860A= (p.Lys287=)
3g.123325453T>ACA354218619ADCY5c.634A>T (p.Lys212Ter)
c.922A>T (p.Lys308Ter)
c.1957A>T (p.Lys653Ter)
n.216A>T
c.907A>T (p.Lys303Ter)
c.856A>T (p.Lys286Ter)
c.958A>T (p.Lys320Ter)
c.868A>T (p.Lys290Ter)
c.859A>T (p.Lys287Ter)
dbSNP
3g.123325453T>CCA2577299ADCY5c.634A>G (p.Lys212Glu)
c.922A>G (p.Lys308Glu)
c.1957A>G (p.Lys653Glu)
n.216A>G
c.907A>G (p.Lys303Glu)
c.856A>G (p.Lys286Glu)
c.958A>G (p.Lys320Glu)
c.868A>G (p.Lys290Glu)
c.859A>G (p.Lys287Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123325453T>GCA354218620ADCY5c.634A>C (p.Lys212Gln)
c.922A>C (p.Lys308Gln)
c.1957A>C (p.Lys653Gln)
n.216A>C
c.907A>C (p.Lys303Gln)
c.856A>C (p.Lys286Gln)
c.958A>C (p.Lys320Gln)
c.868A>C (p.Lys290Gln)
c.859A>C (p.Lys287Gln)
3g.123325453T=CA1398346292ADCY5c.634A= (p.Lys212=)
c.922A= (p.Lys308=)
c.1957A= (p.Lys653=)
n.216A=
c.907A= (p.Lys303=)
c.856A= (p.Lys286=)
c.958A= (p.Lys320=)
c.868A= (p.Lys290=)
c.859A= (p.Lys287=)
3g.123325454C>ACA354218621ADCY5c.633G>T (p.Glu211Asp)
c.921G>T (p.Glu307Asp)
c.1956G>T (p.Glu652Asp)
n.215G>T
c.906G>T (p.Glu302Asp)
c.855G>T (p.Glu285Asp)
c.957G>T (p.Glu319Asp)
c.867G>T (p.Glu289Asp)
c.858G>T (p.Glu286Asp)
3g.123325454C=CA1398346293ADCY5c.633G= (p.Glu211=)
c.921G= (p.Glu307=)
c.1956G= (p.Glu652=)
n.215G=
c.906G= (p.Glu302=)
c.855G= (p.Glu285=)
c.957G= (p.Glu319=)
c.867G= (p.Glu289=)
c.858G= (p.Glu286=)
3g.123325454C>GCA354218622ADCY5c.633G>C (p.Glu211Asp)
c.921G>C (p.Glu307Asp)
c.1956G>C (p.Glu652Asp)
n.215G>C
c.906G>C (p.Glu302Asp)
c.855G>C (p.Glu285Asp)
c.957G>C (p.Glu319Asp)
c.867G>C (p.Glu289Asp)
c.858G>C (p.Glu286Asp)
3g.123325454C>TCA2577300ADCY5c.633G>A (p.Glu211=)
c.921G>A (p.Glu307=)
c.1956G>A (p.Glu652=)
n.215G>A
c.906G>A (p.Glu302=)
c.855G>A (p.Glu285=)
c.957G>A (p.Glu319=)
c.867G>A (p.Glu289=)
c.858G>A (p.Glu286=)
dbSNP ExAC gnomAD v2
3g.123325455T>ACA354218623ADCY5c.632A>T (p.Glu211Val)
c.920A>T (p.Glu307Val)
c.1955A>T (p.Glu652Val)
n.214A>T
c.905A>T (p.Glu302Val)
c.854A>T (p.Glu285Val)
c.956A>T (p.Glu319Val)
c.866A>T (p.Glu289Val)
c.857A>T (p.Glu286Val)
3g.123325455T>CCA2577301ADCY5c.632A>G (p.Glu211Gly)
c.920A>G (p.Glu307Gly)
c.1955A>G (p.Glu652Gly)
n.214A>G
c.905A>G (p.Glu302Gly)
c.854A>G (p.Glu285Gly)
c.956A>G (p.Glu319Gly)
c.866A>G (p.Glu289Gly)
c.857A>G (p.Glu286Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.123325455T>GCA354218624ADCY5c.632A>C (p.Glu211Ala)
c.920A>C (p.Glu307Ala)
c.1955A>C (p.Glu652Ala)
n.214A>C
c.905A>C (p.Glu302Ala)
c.854A>C (p.Glu285Ala)
c.956A>C (p.Glu319Ala)
c.866A>C (p.Glu289Ala)
c.857A>C (p.Glu286Ala)
3g.123325455T=CA1398346294ADCY5c.632A= (p.Glu211=)
c.920A= (p.Glu307=)
c.1955A= (p.Glu652=)
n.214A=
c.905A= (p.Glu302=)
c.854A= (p.Glu285=)
c.956A= (p.Glu319=)
c.866A= (p.Glu289=)
c.857A= (p.Glu286=)
3g.123325456C>ACA354218627ADCY5c.631G>T (p.Glu211Ter)
c.919G>T (p.Glu307Ter)
c.1954G>T (p.Glu652Ter)
n.213G>T
c.904G>T (p.Glu302Ter)
c.853G>T (p.Glu285Ter)
c.955G>T (p.Glu319Ter)
c.865G>T (p.Glu289Ter)
c.856G>T (p.Glu286Ter)
dbSNP
3g.123325456C=CA1398346295ADCY5c.631G= (p.Glu211=)
c.919G= (p.Glu307=)
c.1954G= (p.Glu652=)
n.213G=
c.904G= (p.Glu302=)
c.853G= (p.Glu285=)
c.955G= (p.Glu319=)
c.865G= (p.Glu289=)
c.856G= (p.Glu286=)
3g.123325456C>GCA354218626ADCY5c.631G>C (p.Glu211Gln)
c.919G>C (p.Glu307Gln)
c.1954G>C (p.Glu652Gln)
n.213G>C
c.904G>C (p.Glu302Gln)
c.853G>C (p.Glu285Gln)
c.955G>C (p.Glu319Gln)
c.865G>C (p.Glu289Gln)
c.856G>C (p.Glu286Gln)
3g.123325456C>TCA354218625ADCY5c.631G>A (p.Glu211Lys)
c.919G>A (p.Glu307Lys)
c.1954G>A (p.Glu652Lys)
n.213G>A
c.904G>A (p.Glu302Lys)
c.853G>A (p.Glu285Lys)
c.955G>A (p.Glu319Lys)
c.865G>A (p.Glu289Lys)
c.856G>A (p.Glu286Lys)
3g.123325457T>ACA354218628ADCY5c.630A>T (p.Glu210Asp)
c.918A>T (p.Glu306Asp)
c.1953A>T (p.Glu651Asp)
n.212A>T
c.903A>T (p.Glu301Asp)
c.852A>T (p.Glu284Asp)
c.954A>T (p.Glu318Asp)
c.864A>T (p.Glu288Asp)
c.855A>T (p.Glu285Asp)
3g.123325457T>CCA435293394ADCY5c.630A>G (p.Glu210=)
c.918A>G (p.Glu306=)
c.1953A>G (p.Glu651=)
n.212A>G
c.903A>G (p.Glu301=)
c.852A>G (p.Glu284=)
c.954A>G (p.Glu318=)
c.864A>G (p.Glu288=)
c.855A>G (p.Glu285=)
ClinVar
3g.123325457T>GCA354218629ADCY5c.630A>C (p.Glu210Asp)
c.918A>C (p.Glu306Asp)
c.1953A>C (p.Glu651Asp)
n.212A>C
c.903A>C (p.Glu301Asp)
c.852A>C (p.Glu284Asp)
c.954A>C (p.Glu318Asp)
c.864A>C (p.Glu288Asp)
c.855A>C (p.Glu285Asp)
3g.123325458T>ACA354218630ADCY5c.629A>T (p.Glu210Val)
c.917A>T (p.Glu306Val)
c.1952A>T (p.Glu651Val)
n.211A>T
c.902A>T (p.Glu301Val)
c.851A>T (p.Glu284Val)
c.953A>T (p.Glu318Val)
c.863A>T (p.Glu288Val)
c.854A>T (p.Glu285Val)
3g.123325458T>CCA354218631ADCY5c.629A>G (p.Glu210Gly)
c.917A>G (p.Glu306Gly)
c.1952A>G (p.Glu651Gly)
n.211A>G
c.902A>G (p.Glu301Gly)
c.851A>G (p.Glu284Gly)
c.953A>G (p.Glu318Gly)
c.863A>G (p.Glu288Gly)
c.854A>G (p.Glu285Gly)
3g.123325458T>GCA354218632ADCY5c.629A>C (p.Glu210Ala)
c.917A>C (p.Glu306Ala)
c.1952A>C (p.Glu651Ala)
n.211A>C
c.902A>C (p.Glu301Ala)
c.851A>C (p.Glu284Ala)
c.953A>C (p.Glu318Ala)
c.863A>C (p.Glu288Ala)
c.854A>C (p.Glu285Ala)
dbSNP
3g.123325458T=CA1398346296ADCY5c.629A= (p.Glu210=)
c.917A= (p.Glu306=)
c.1952A= (p.Glu651=)
n.211A=
c.902A= (p.Glu301=)
c.851A= (p.Glu284=)
c.953A= (p.Glu318=)
c.863A= (p.Glu288=)
c.854A= (p.Glu285=)
3g.123325459C>ACA354218633ADCY5c.628G>T (p.Glu210Ter)
c.916G>T (p.Glu306Ter)
c.1951G>T (p.Glu651Ter)
n.210G>T
c.901G>T (p.Glu301Ter)
c.850G>T (p.Glu284Ter)
c.952G>T (p.Glu318Ter)
c.862G>T (p.Glu288Ter)
c.853G>T (p.Glu285Ter)
dbSNP
3g.123325459C=CA1398346297ADCY5c.628G= (p.Glu210=)
c.916G= (p.Glu306=)
c.1951G= (p.Glu651=)
n.210G=
c.901G= (p.Glu301=)
c.850G= (p.Glu284=)
c.952G= (p.Glu318=)
c.862G= (p.Glu288=)
c.853G= (p.Glu285=)
3g.123325459C>GCA354218634ADCY5c.628G>C (p.Glu210Gln)
c.916G>C (p.Glu306Gln)
c.1951G>C (p.Glu651Gln)
n.210G>C
c.901G>C (p.Glu301Gln)
c.850G>C (p.Glu284Gln)
c.952G>C (p.Glu318Gln)
c.862G>C (p.Glu288Gln)
c.853G>C (p.Glu285Gln)
3g.123325459C>TCA354218635ADCY5c.628G>A (p.Glu210Lys)
c.916G>A (p.Glu306Lys)
c.1951G>A (p.Glu651Lys)
n.210G>A
c.901G>A (p.Glu301Lys)
c.850G>A (p.Glu284Lys)
c.952G>A (p.Glu318Lys)
c.862G>A (p.Glu288Lys)
c.853G>A (p.Glu285Lys)
3g.123325460T>ACA354218637ADCY5c.627A>T (p.Lys209Asn)
c.915A>T (p.Lys305Asn)
c.1950A>T (p.Lys650Asn)
n.209A>T
c.900A>T (p.Lys300Asn)
c.849A>T (p.Lys283Asn)
c.951A>T (p.Lys317Asn)
c.861A>T (p.Lys287Asn)
c.852A>T (p.Lys284Asn)
3g.123325460T>CCA435293395ADCY5c.627A>G (p.Lys209=)
c.915A>G (p.Lys305=)
c.1950A>G (p.Lys650=)
n.209A>G
c.900A>G (p.Lys300=)
c.849A>G (p.Lys283=)
c.951A>G (p.Lys317=)
c.861A>G (p.Lys287=)
c.852A>G (p.Lys284=)
3g.123325460T>GCA354218636ADCY5c.627A>C (p.Lys209Asn)
c.915A>C (p.Lys305Asn)
c.1950A>C (p.Lys650Asn)
n.209A>C
c.900A>C (p.Lys300Asn)
c.849A>C (p.Lys283Asn)
c.951A>C (p.Lys317Asn)
c.861A>C (p.Lys287Asn)
c.852A>C (p.Lys284Asn)
3g.123325461T>ACA354218638ADCY5c.626A>T (p.Lys209Ile)
c.914A>T (p.Lys305Ile)
c.1949A>T (p.Lys650Ile)
n.208A>T
c.899A>T (p.Lys300Ile)
c.848A>T (p.Lys283Ile)
c.950A>T (p.Lys317Ile)
c.860A>T (p.Lys287Ile)
c.851A>T (p.Lys284Ile)
3g.123325461T>CCA354218639ADCY5c.626A>G (p.Lys209Arg)
c.914A>G (p.Lys305Arg)
c.1949A>G (p.Lys650Arg)
n.208A>G
c.899A>G (p.Lys300Arg)
c.848A>G (p.Lys283Arg)
c.950A>G (p.Lys317Arg)
c.860A>G (p.Lys287Arg)
c.851A>G (p.Lys284Arg)
3g.123325461T>GCA354218640ADCY5c.626A>C (p.Lys209Thr)
c.914A>C (p.Lys305Thr)
c.1949A>C (p.Lys650Thr)
n.208A>C
c.899A>C (p.Lys300Thr)
c.848A>C (p.Lys283Thr)
c.950A>C (p.Lys317Thr)
c.860A>C (p.Lys287Thr)
c.851A>C (p.Lys284Thr)
3g.123325462T>ACA354218641ADCY5c.625A>T (p.Lys209Ter)
c.913A>T (p.Lys305Ter)
c.1948A>T (p.Lys650Ter)
n.207A>T
c.898A>T (p.Lys300Ter)
c.847A>T (p.Lys283Ter)
c.949A>T (p.Lys317Ter)
c.859A>T (p.Lys287Ter)
c.850A>T (p.Lys284Ter)
dbSNP
3g.123325462T>CCA354218642ADCY5c.625A>G (p.Lys209Glu)
c.913A>G (p.Lys305Glu)
c.1948A>G (p.Lys650Glu)
n.207A>G
c.898A>G (p.Lys300Glu)
c.847A>G (p.Lys283Glu)
c.949A>G (p.Lys317Glu)
c.859A>G (p.Lys287Glu)
c.850A>G (p.Lys284Glu)
dbSNP
3g.123325462T>GCA354218643ADCY5c.625A>C (p.Lys209Gln)
c.913A>C (p.Lys305Gln)
c.1948A>C (p.Lys650Gln)
n.207A>C
c.898A>C (p.Lys300Gln)
c.847A>C (p.Lys283Gln)
c.949A>C (p.Lys317Gln)
c.859A>C (p.Lys287Gln)
c.850A>C (p.Lys284Gln)
3g.123325462T=CA1398346298ADCY5c.625A= (p.Lys209=)
c.913A= (p.Lys305=)
c.1948A= (p.Lys650=)
n.207A=
c.898A= (p.Lys300=)
c.847A= (p.Lys283=)
c.949A= (p.Lys317=)
c.859A= (p.Lys287=)
c.850A= (p.Lys284=)
3g.123325463C>ACA354218644ADCY5c.625-1G>T (n.625-1G>T)
c.913-1G>T (n.913-1G>T)
c.1948-1G>T (n.1948-1G>T)
n.207-1G>T
c.898-1G>T (n.898-1G>T)
c.847-1G>T (n.847-1G>T)
c.949-1G>T (n.949-1G>T)
c.859-1G>T (n.859-1G>T)
c.850-1G>T (n.850-1G>T)
3g.123325463C>GCA354218646ADCY5c.625-1G>C (n.625-1G>C)
c.913-1G>C (n.913-1G>C)
c.1948-1G>C (n.1948-1G>C)
n.207-1G>C
c.898-1G>C (n.898-1G>C)
c.847-1G>C (n.847-1G>C)
c.949-1G>C (n.949-1G>C)
c.859-1G>C (n.859-1G>C)
c.850-1G>C (n.850-1G>C)
3g.123325463C>TCA354218645ADCY5c.625-1G>A (n.625-1G>A)
c.913-1G>A (n.913-1G>A)
c.1948-1G>A (n.1948-1G>A)
n.207-1G>A
c.898-1G>A (n.898-1G>A)
c.847-1G>A (n.847-1G>A)
c.949-1G>A (n.949-1G>A)
c.859-1G>A (n.859-1G>A)
c.850-1G>A (n.850-1G>A)
3g.123325464T>ACA354218647ADCY5c.625-2A>T (n.625-2A>T)
c.913-2A>T (n.913-2A>T)
c.1948-2A>T (n.1948-2A>T)
n.207-2A>T
c.898-2A>T (n.898-2A>T)
c.847-2A>T (n.847-2A>T)
c.949-2A>T (n.949-2A>T)
c.859-2A>T (n.859-2A>T)
c.850-2A>T (n.850-2A>T)
3g.123325464T>CCA354218648ADCY5c.625-2A>G (n.625-2A>G)
c.913-2A>G (n.913-2A>G)
c.1948-2A>G (n.1948-2A>G)
n.207-2A>G
c.898-2A>G (n.898-2A>G)
c.847-2A>G (n.847-2A>G)
c.949-2A>G (n.949-2A>G)
c.859-2A>G (n.859-2A>G)
c.850-2A>G (n.850-2A>G)
gnomAD v4
3g.123325464T>GCA354218649ADCY5c.625-2A>C (n.625-2A>C)
c.913-2A>C (n.913-2A>C)
c.1948-2A>C (n.1948-2A>C)
n.207-2A>C
c.898-2A>C (n.898-2A>C)
c.847-2A>C (n.847-2A>C)
c.949-2A>C (n.949-2A>C)
c.859-2A>C (n.859-2A>C)
c.850-2A>C (n.850-2A>C)
3g.123325464_123325473delCA2586972842ADCY5c.625-11_625-2del (n.625-11_625-2del)
c.913-11_913-2del (n.913-11_913-2del)
c.1948-11_1948-2del (n.1948-11_1948-2del)
n.207-11_207-2del
c.898-11_898-2del (n.898-11_898-2del)
c.847-11_847-2del (n.847-11_847-2del)
c.949-11_949-2del (n.949-11_949-2del)
c.859-11_859-2del (n.859-11_859-2del)
c.850-11_850-2del (n.850-11_850-2del)
3g.123325465G>ACA82899441ADCY5c.625-3C>T (n.625-3C>T)
c.913-3C>T (n.913-3C>T)
c.1948-3C>T (n.1948-3C>T)
n.207-3C>T
c.898-3C>T (n.898-3C>T)
c.847-3C>T (n.847-3C>T)
c.949-3C>T (n.949-3C>T)
c.859-3C>T (n.859-3C>T)
c.850-3C>T (n.850-3C>T)
dbSNP gnomAD v3 gnomAD v4
3g.123325465G=CA1398346299ADCY5c.625-3C= (n.625-3C=)
c.913-3C= (n.913-3C=)
c.1948-3C= (n.1948-3C=)
n.207-3C=
c.898-3C= (n.898-3C=)
c.847-3C= (n.847-3C=)
c.949-3C= (n.949-3C=)
c.859-3C= (n.859-3C=)
c.850-3C= (n.850-3C=)
3g.123325465G>TCA2580617516ADCY5c.625-3C>A (n.625-3C>A)
c.913-3C>A (n.913-3C>A)
c.1948-3C>A (n.1948-3C>A)
n.207-3C>A
c.898-3C>A (n.898-3C>A)
c.847-3C>A (n.847-3C>A)
c.949-3C>A (n.949-3C>A)
c.859-3C>A (n.859-3C>A)
c.850-3C>A (n.850-3C>A)
ClinVar
3g.123325466G>ACA82899446ADCY5c.625-4C>T (n.625-4C>T)
c.913-4C>T (n.913-4C>T)
c.1948-4C>T (n.1948-4C>T)
n.207-4C>T
c.898-4C>T (n.898-4C>T)
c.847-4C>T (n.847-4C>T)
c.949-4C>T (n.949-4C>T)
c.859-4C>T (n.859-4C>T)
c.850-4C>T (n.850-4C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.123325466G>CCA2667293684ADCY5c.625-4C>G (n.625-4C>G)
c.913-4C>G (n.913-4C>G)
c.1948-4C>G (n.1948-4C>G)
n.207-4C>G
c.898-4C>G (n.898-4C>G)
c.847-4C>G (n.847-4C>G)
c.949-4C>G (n.949-4C>G)
c.859-4C>G (n.859-4C>G)
c.850-4C>G (n.850-4C>G)
gnomAD v4
3g.123325466G=CA1398346300ADCY5c.625-4C= (n.625-4C=)
c.913-4C= (n.913-4C=)
c.1948-4C= (n.1948-4C=)
n.207-4C=
c.898-4C= (n.898-4C=)
c.847-4C= (n.847-4C=)
c.949-4C= (n.949-4C=)
c.859-4C= (n.859-4C=)
c.850-4C= (n.850-4C=)
3g.123325467A=CA1398346301ADCY5c.625-5T= (n.625-5T=)
c.913-5T= (n.913-5T=)
c.1948-5T= (n.1948-5T=)
n.207-5T=
c.898-5T= (n.898-5T=)
c.847-5T= (n.847-5T=)
c.949-5T= (n.949-5T=)
c.859-5T= (n.859-5T=)
c.850-5T= (n.850-5T=)
3g.123325467A>GCA545686517ADCY5c.625-5T>C (n.625-5T>C)
c.913-5T>C (n.913-5T>C)
c.1948-5T>C (n.1948-5T>C)
n.207-5T>C
c.898-5T>C (n.898-5T>C)
c.847-5T>C (n.847-5T>C)
c.949-5T>C (n.949-5T>C)
c.859-5T>C (n.859-5T>C)
c.850-5T>C (n.850-5T>C)
ClinVar dbSNP gnomAD v2
3g.123325469G>ACA2577302ADCY5c.625-7C>T (n.625-7C>T)
c.913-7C>T (n.913-7C>T)
c.1948-7C>T (n.1948-7C>T)
n.207-7C>T
c.898-7C>T (n.898-7C>T)
c.847-7C>T (n.847-7C>T)
c.949-7C>T (n.949-7C>T)
c.859-7C>T (n.859-7C>T)
c.850-7C>T (n.850-7C>T)
dbSNP ExAC gnomAD v2
3g.123325469G=CA1398346302ADCY5c.625-7C= (n.625-7C=)
c.913-7C= (n.913-7C=)
c.1948-7C= (n.1948-7C=)
n.207-7C=
c.898-7C= (n.898-7C=)
c.847-7C= (n.847-7C=)
c.949-7C= (n.949-7C=)
c.859-7C= (n.859-7C=)
c.850-7C= (n.850-7C=)
3g.123325469G>TCA2667293685ADCY5c.625-7C>A (n.625-7C>A)
c.913-7C>A (n.913-7C>A)
c.1948-7C>A (n.1948-7C>A)
n.207-7C>A
c.898-7C>A (n.898-7C>A)
c.847-7C>A (n.847-7C>A)
c.949-7C>A (n.949-7C>A)
c.859-7C>A (n.859-7C>A)
c.850-7C>A (n.850-7C>A)
gnomAD v4
3g.123325470A>GCA2758206420ADCY5c.625-8T>C (n.625-8T>C)
c.913-8T>C (n.913-8T>C)
c.1948-8T>C (n.1948-8T>C)
n.207-8T>C
c.898-8T>C (n.898-8T>C)
c.847-8T>C (n.847-8T>C)
c.949-8T>C (n.949-8T>C)
c.859-8T>C (n.859-8T>C)
c.850-8T>C (n.850-8T>C)
3g.123325471C>ACA2571933559ADCY5c.625-9G>T (n.625-9G>T)
c.913-9G>T (n.913-9G>T)
c.1948-9G>T (n.1948-9G>T)
n.207-9G>T
c.898-9G>T (n.898-9G>T)
c.847-9G>T (n.847-9G>T)
c.949-9G>T (n.949-9G>T)
c.859-9G>T (n.859-9G>T)
c.850-9G>T (n.850-9G>T)
3g.123325471C=CA1398346303ADCY5c.625-9G= (n.625-9G=)
c.913-9G= (n.913-9G=)
c.1948-9G= (n.1948-9G=)
n.207-9G=
c.898-9G= (n.898-9G=)
c.847-9G= (n.847-9G=)
c.949-9G= (n.949-9G=)
c.859-9G= (n.859-9G=)
c.850-9G= (n.850-9G=)
3g.123325471C>TCA2577303ADCY5c.625-9G>A (n.625-9G>A)
c.913-9G>A (n.913-9G>A)
c.1948-9G>A (n.1948-9G>A)
n.207-9G>A
c.898-9G>A (n.898-9G>A)
c.847-9G>A (n.847-9G>A)
c.949-9G>A (n.949-9G>A)
c.859-9G>A (n.859-9G>A)
c.850-9G>A (n.850-9G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123325472G>ACA2577304ADCY5c.625-10C>T (n.625-10C>T)
c.913-10C>T (n.913-10C>T)
c.1948-10C>T (n.1948-10C>T)
n.207-10C>T
c.898-10C>T (n.898-10C>T)
c.847-10C>T (n.847-10C>T)
c.949-10C>T (n.949-10C>T)
c.859-10C>T (n.859-10C>T)
c.850-10C>T (n.850-10C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123325472G>CCA1053006047ADCY5c.625-10C>G (n.625-10C>G)
c.913-10C>G (n.913-10C>G)
c.1948-10C>G (n.1948-10C>G)
n.207-10C>G
c.898-10C>G (n.898-10C>G)
c.847-10C>G (n.847-10C>G)
c.949-10C>G (n.949-10C>G)
c.859-10C>G (n.859-10C>G)
c.850-10C>G (n.850-10C>G)
dbSNP gnomAD v3 gnomAD v4
3g.123325472G=CA1398346304ADCY5c.625-10C= (n.625-10C=)
c.913-10C= (n.913-10C=)
c.1948-10C= (n.1948-10C=)
n.207-10C=
c.898-10C= (n.898-10C=)
c.847-10C= (n.847-10C=)
c.949-10C= (n.949-10C=)
c.859-10C= (n.859-10C=)
c.850-10C= (n.850-10C=)
3g.123325475C>TCA2667293686ADCY5c.625-13G>A (n.625-13G>A)
c.913-13G>A (n.913-13G>A)
c.1948-13G>A (n.1948-13G>A)
n.207-13G>A
c.898-13G>A (n.898-13G>A)
c.847-13G>A (n.847-13G>A)
c.949-13G>A (n.949-13G>A)
c.859-13G>A (n.859-13G>A)
c.850-13G>A (n.850-13G>A)
gnomAD v4
3g.123325476A=CA1398346305ADCY5c.625-14T= (n.625-14T=)
c.913-14T= (n.913-14T=)
c.1948-14T= (n.1948-14T=)
n.207-14T=
c.898-14T= (n.898-14T=)
c.847-14T= (n.847-14T=)
c.949-14T= (n.949-14T=)
c.859-14T= (n.859-14T=)
c.850-14T= (n.850-14T=)
3g.123325476A>GCA1398346306ADCY5c.625-14T>C (n.625-14T>C)
c.913-14T>C (n.913-14T>C)
c.1948-14T>C (n.1948-14T>C)
n.207-14T>C
c.898-14T>C (n.898-14T>C)
c.847-14T>C (n.847-14T>C)
c.949-14T>C (n.949-14T>C)
c.859-14T>C (n.859-14T>C)
c.850-14T>C (n.850-14T>C)
dbSNP gnomAD v4
3g.123325480_123325481insTCA2562305497ADCY5c.625-19_625-18insA (n.625-19_625-18insA)
c.913-19_913-18insA (n.913-19_913-18insA)
c.1948-19_1948-18insA (n.1948-19_1948-18insA)
n.207-19_207-18insA
c.898-19_898-18insA (n.898-19_898-18insA)
c.847-19_847-18insA (n.847-19_847-18insA)
c.949-19_949-18insA (n.949-19_949-18insA)
c.859-19_859-18insA (n.859-19_859-18insA)
c.850-19_850-18insA (n.850-19_850-18insA)
3g.123325481G>ACA2580068692ADCY5c.625-19C>T (n.625-19C>T)
c.913-19C>T (n.913-19C>T)
c.1948-19C>T (n.1948-19C>T)
n.207-19C>T
c.898-19C>T (n.898-19C>T)
c.847-19C>T (n.847-19C>T)
c.949-19C>T (n.949-19C>T)
c.859-19C>T (n.859-19C>T)
c.850-19C>T (n.850-19C>T)
ClinVar
3g.123325481_123325482insCCA2563166756ADCY5c.625-20_625-19insG (n.625-20_625-19insG)
c.913-20_913-19insG (n.913-20_913-19insG)
c.1948-20_1948-19insG (n.1948-20_1948-19insG)
n.207-20_207-19insG
c.898-20_898-19insG (n.898-20_898-19insG)
c.847-20_847-19insG (n.847-20_847-19insG)
c.949-20_949-19insG (n.949-20_949-19insG)
c.859-20_859-19insG (n.859-20_859-19insG)
c.850-20_850-19insG (n.850-20_850-19insG)
3g.123325482A=CA1398346307ADCY5c.625-20T= (n.625-20T=)
c.913-20T= (n.913-20T=)
c.1948-20T= (n.1948-20T=)
n.207-20T=
c.898-20T= (n.898-20T=)
c.847-20T= (n.847-20T=)
c.949-20T= (n.949-20T=)
c.859-20T= (n.859-20T=)
c.850-20T= (n.850-20T=)
3g.123325482A>GCA2577305ADCY5c.625-20T>C (n.625-20T>C)
c.913-20T>C (n.913-20T>C)
c.1948-20T>C (n.1948-20T>C)
n.207-20T>C
c.898-20T>C (n.898-20T>C)
c.847-20T>C (n.847-20T>C)
c.949-20T>C (n.949-20T>C)
c.859-20T>C (n.859-20T>C)
c.850-20T>C (n.850-20T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.123325483T>CCA2667293687ADCY5c.625-21A>G (n.625-21A>G)
c.913-21A>G (n.913-21A>G)
c.1948-21A>G (n.1948-21A>G)
n.207-21A>G
c.898-21A>G (n.898-21A>G)
c.847-21A>G (n.847-21A>G)
c.949-21A>G (n.949-21A>G)
c.859-21A>G (n.859-21A>G)
c.850-21A>G (n.850-21A>G)
gnomAD v4
3g.123325483_123325484insCAGCCTCA2543213341ADCY5c.625-21_625-20insGGCTGA (n.625-21_625-20insGGCTGA)
c.913-21_913-20insGGCTGA (n.913-21_913-20insGGCTGA)
c.1948-21_1948-20insGGCTGA (n.1948-21_1948-20insGGCTGA)
n.207-21_207-20insGGCTGA
c.898-21_898-20insGGCTGA (n.898-21_898-20insGGCTGA)
c.847-21_847-20insGGCTGA (n.847-21_847-20insGGCTGA)
c.949-21_949-20insGGCTGA (n.949-21_949-20insGGCTGA)
c.859-21_859-20insGGCTGA (n.859-21_859-20insGGCTGA)
c.850-21_850-20insGGCTGA (n.850-21_850-20insGGCTGA)
3g.123325483_123325484delinsTGCA1398346308ADCY5c.625-22_625-21delinsCA (n.625-22_625-21delinsCA)
c.913-22_913-21delinsCA (n.913-22_913-21delinsCA)
c.1948-22_1948-21delinsCA (n.1948-22_1948-21delinsCA)
n.207-22_207-21delinsCA
c.898-22_898-21delinsCA (n.898-22_898-21delinsCA)
c.847-22_847-21delinsCA (n.847-22_847-21delinsCA)
c.949-22_949-21delinsCA (n.949-22_949-21delinsCA)
c.859-22_859-21delinsCA (n.859-22_859-21delinsCA)
c.850-22_850-21delinsCA (n.850-22_850-21delinsCA)
3g.123325484G>ACA2577306ADCY5c.625-22C>T (n.625-22C>T)
c.913-22C>T (n.913-22C>T)
c.1948-22C>T (n.1948-22C>T)
n.207-22C>T
c.898-22C>T (n.898-22C>T)
c.847-22C>T (n.847-22C>T)
c.949-22C>T (n.949-22C>T)
c.859-22C>T (n.859-22C>T)
c.850-22C>T (n.850-22C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123325484G>CCA2577307ADCY5c.625-22C>G (n.625-22C>G)
c.913-22C>G (n.913-22C>G)
c.1948-22C>G (n.1948-22C>G)
n.207-22C>G
c.898-22C>G (n.898-22C>G)
c.847-22C>G (n.847-22C>G)
c.949-22C>G (n.949-22C>G)
c.859-22C>G (n.859-22C>G)
c.850-22C>G (n.850-22C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.123325484G=CA1398346309ADCY5c.625-22C= (n.625-22C=)
c.913-22C= (n.913-22C=)
c.1948-22C= (n.1948-22C=)
n.207-22C=
c.898-22C= (n.898-22C=)
c.847-22C= (n.847-22C=)
c.949-22C= (n.949-22C=)
c.859-22C= (n.859-22C=)
c.850-22C= (n.850-22C=)
3g.123325484G>TCA545686527ADCY5c.625-22C>A (n.625-22C>A)
c.913-22C>A (n.913-22C>A)
c.1948-22C>A (n.1948-22C>A)
n.207-22C>A
c.898-22C>A (n.898-22C>A)
c.847-22C>A (n.847-22C>A)
c.949-22C>A (n.949-22C>A)
c.859-22C>A (n.859-22C>A)
c.850-22C>A (n.850-22C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.123325489dupCA2667293688ADCY5c.625-22dup (n.625-22dup)
c.913-22dup (n.913-22dup)
c.1948-22dup (n.1948-22dup)
n.207-22dup
c.898-22dup (n.898-22dup)
c.847-22dup (n.847-22dup)
c.949-22dup (n.949-22dup)
c.859-22dup (n.859-22dup)
c.850-22dup (n.850-22dup)
gnomAD v4
3g.123325489delCA1398346310ADCY5c.625-22del (n.625-22del)
c.913-22del (n.913-22del)
c.1948-22del (n.1948-22del)
n.207-22del
c.898-22del (n.898-22del)
c.847-22del (n.847-22del)
c.949-22del (n.949-22del)
c.859-22del (n.859-22del)
c.850-22del (n.850-22del)
dbSNP gnomAD v4
3g.123325485G>ACA1053006052ADCY5c.625-23C>T (n.625-23C>T)
c.913-23C>T (n.913-23C>T)
c.1948-23C>T (n.1948-23C>T)
n.207-23C>T
c.898-23C>T (n.898-23C>T)
c.847-23C>T (n.847-23C>T)
c.949-23C>T (n.949-23C>T)
c.859-23C>T (n.859-23C>T)
c.850-23C>T (n.850-23C>T)
dbSNP gnomAD v3 gnomAD v4
3g.123325485G>CCA2740454691ADCY5c.625-23C>G (n.625-23C>G)
c.913-23C>G (n.913-23C>G)
c.1948-23C>G (n.1948-23C>G)
n.207-23C>G
c.898-23C>G (n.898-23C>G)
c.847-23C>G (n.847-23C>G)
c.949-23C>G (n.949-23C>G)
c.859-23C>G (n.859-23C>G)
c.850-23C>G (n.850-23C>G)
3g.123325485G=CA1398346311ADCY5c.625-23C= (n.625-23C=)
c.913-23C= (n.913-23C=)
c.1948-23C= (n.1948-23C=)
n.207-23C=
c.898-23C= (n.898-23C=)
c.847-23C= (n.847-23C=)
c.949-23C= (n.949-23C=)
c.859-23C= (n.859-23C=)
c.850-23C= (n.850-23C=)
3g.123325485G>TCA2667293689ADCY5c.625-23C>A (n.625-23C>A)
c.913-23C>A (n.913-23C>A)
c.1948-23C>A (n.1948-23C>A)
n.207-23C>A
c.898-23C>A (n.898-23C>A)
c.847-23C>A (n.847-23C>A)
c.949-23C>A (n.949-23C>A)
c.859-23C>A (n.859-23C>A)
c.850-23C>A (n.850-23C>A)
gnomAD v4
3g.123325486G>CCA2577308ADCY5c.625-24C>G (n.625-24C>G)
c.913-24C>G (n.913-24C>G)
c.1948-24C>G (n.1948-24C>G)
n.207-24C>G
c.898-24C>G (n.898-24C>G)
c.847-24C>G (n.847-24C>G)
c.949-24C>G (n.949-24C>G)
c.859-24C>G (n.859-24C>G)
c.850-24C>G (n.850-24C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123325486G=CA1398346312ADCY5c.625-24C= (n.625-24C=)
c.913-24C= (n.913-24C=)
c.1948-24C= (n.1948-24C=)
n.207-24C=
c.898-24C= (n.898-24C=)
c.847-24C= (n.847-24C=)
c.949-24C= (n.949-24C=)
c.859-24C= (n.859-24C=)
c.850-24C= (n.850-24C=)
3g.123325488G>ACA2577309ADCY5c.625-26C>T (n.625-26C>T)
c.913-26C>T (n.913-26C>T)
c.1948-26C>T (n.1948-26C>T)
n.207-26C>T
c.898-26C>T (n.898-26C>T)
c.847-26C>T (n.847-26C>T)
c.949-26C>T (n.949-26C>T)
c.859-26C>T (n.859-26C>T)
c.850-26C>T (n.850-26C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123325488G=CA1398346313ADCY5c.625-26C= (n.625-26C=)
c.913-26C= (n.913-26C=)
c.1948-26C= (n.1948-26C=)
n.207-26C=
c.898-26C= (n.898-26C=)
c.847-26C= (n.847-26C=)
c.949-26C= (n.949-26C=)
c.859-26C= (n.859-26C=)
c.850-26C= (n.850-26C=)
3g.123325489G>ACA82899474ADCY5c.625-27C>T (n.625-27C>T)
c.913-27C>T (n.913-27C>T)
c.1948-27C>T (n.1948-27C>T)
n.207-27C>T
c.898-27C>T (n.898-27C>T)
c.847-27C>T (n.847-27C>T)
c.949-27C>T (n.949-27C>T)
c.859-27C>T (n.859-27C>T)
c.850-27C>T (n.850-27C>T)
dbSNP
3g.123325489G>CCA2577311ADCY5c.625-27C>G (n.625-27C>G)
c.913-27C>G (n.913-27C>G)
c.1948-27C>G (n.1948-27C>G)
n.207-27C>G
c.898-27C>G (n.898-27C>G)
c.847-27C>G (n.847-27C>G)
c.949-27C>G (n.949-27C>G)
c.859-27C>G (n.859-27C>G)
c.850-27C>G (n.850-27C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.123325489G=CA1398346314ADCY5c.625-27C= (n.625-27C=)
c.913-27C= (n.913-27C=)
c.1948-27C= (n.1948-27C=)
n.207-27C=
c.898-27C= (n.898-27C=)
c.847-27C= (n.847-27C=)
c.949-27C= (n.949-27C=)
c.859-27C= (n.859-27C=)
c.850-27C= (n.850-27C=)
3g.123325490A=CA2581912088ADCY5c.625-28T= (n.625-28T=)
c.913-28T= (n.913-28T=)
c.1948-28T= (n.1948-28T=)
n.207-28T=
c.898-28T= (n.898-28T=)
c.847-28T= (n.847-28T=)
c.949-28T= (n.949-28T=)
c.859-28T= (n.859-28T=)
c.850-28T= (n.850-28T=)
3g.123325490A>CCA2581912087ADCY5c.625-28T>G (n.625-28T>G)
c.913-28T>G (n.913-28T>G)
c.1948-28T>G (n.1948-28T>G)
n.207-28T>G
c.898-28T>G (n.898-28T>G)
c.847-28T>G (n.847-28T>G)
c.949-28T>G (n.949-28T>G)
c.859-28T>G (n.859-28T>G)
c.850-28T>G (n.850-28T>G)
3g.123325490A>GCA2577875167ADCY5c.625-28T>C (n.625-28T>C)
c.913-28T>C (n.913-28T>C)
c.1948-28T>C (n.1948-28T>C)
n.207-28T>C
c.898-28T>C (n.898-28T>C)
c.847-28T>C (n.847-28T>C)
c.949-28T>C (n.949-28T>C)
c.859-28T>C (n.859-28T>C)
c.850-28T>C (n.850-28T>C)
gnomAD v4
3g.123325490A>TCA2581912089ADCY5c.625-28T>A (n.625-28T>A)
c.913-28T>A (n.913-28T>A)
c.1948-28T>A (n.1948-28T>A)
n.207-28T>A
c.898-28T>A (n.898-28T>A)
c.847-28T>A (n.847-28T>A)
c.949-28T>A (n.949-28T>A)
c.859-28T>A (n.859-28T>A)
c.850-28T>A (n.850-28T>A)
3g.123325490dupCA2577310ADCY5c.625-28dup (n.625-28dup)
c.913-28dup (n.913-28dup)
c.1948-28dup (n.1948-28dup)
n.207-28dup
c.898-28dup (n.898-28dup)
c.847-28dup (n.847-28dup)
c.949-28dup (n.949-28dup)
c.859-28dup (n.859-28dup)
c.850-28dup (n.850-28dup)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123325491G>ACA545686538ADCY5c.625-29C>T (n.625-29C>T)
c.913-29C>T (n.913-29C>T)
c.1948-29C>T (n.1948-29C>T)
n.207-29C>T
c.898-29C>T (n.898-29C>T)
c.847-29C>T (n.847-29C>T)
c.949-29C>T (n.949-29C>T)
c.859-29C>T (n.859-29C>T)
c.850-29C>T (n.850-29C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.123325491G>CCA2667293690ADCY5c.625-29C>G (n.625-29C>G)
c.913-29C>G (n.913-29C>G)
c.1948-29C>G (n.1948-29C>G)
n.207-29C>G
c.898-29C>G (n.898-29C>G)
c.847-29C>G (n.847-29C>G)
c.949-29C>G (n.949-29C>G)
c.859-29C>G (n.859-29C>G)
c.850-29C>G (n.850-29C>G)
gnomAD v4
3g.123325491G=CA1398346315ADCY5c.625-29C= (n.625-29C=)
c.913-29C= (n.913-29C=)
c.1948-29C= (n.1948-29C=)
n.207-29C=
c.898-29C= (n.898-29C=)
c.847-29C= (n.847-29C=)
c.949-29C= (n.949-29C=)
c.859-29C= (n.859-29C=)
c.850-29C= (n.850-29C=)
3g.123325491G>TCA1053006061ADCY5c.625-29C>A (n.625-29C>A)
c.913-29C>A (n.913-29C>A)
c.1948-29C>A (n.1948-29C>A)
n.207-29C>A
c.898-29C>A (n.898-29C>A)
c.847-29C>A (n.847-29C>A)
c.949-29C>A (n.949-29C>A)
c.859-29C>A (n.859-29C>A)
c.850-29C>A (n.850-29C>A)
dbSNP gnomAD v3 gnomAD v4
3g.123325492_123325493delCA2526992496ADCY5c.625-31_625-30del (n.625-31_625-30del)
c.913-31_913-30del (n.913-31_913-30del)
c.1948-31_1948-30del (n.1948-31_1948-30del)
n.207-31_207-30del
c.898-31_898-30del (n.898-31_898-30del)
c.847-31_847-30del (n.847-31_847-30del)
c.949-31_949-30del (n.949-31_949-30del)
c.859-31_859-30del (n.859-31_859-30del)
c.850-31_850-30del (n.850-31_850-30del)
3g.123325493T>CCA2703968723ADCY5c.625-31A>G (n.625-31A>G)
c.913-31A>G (n.913-31A>G)
c.1948-31A>G (n.1948-31A>G)
n.207-31A>G
c.898-31A>G (n.898-31A>G)
c.847-31A>G (n.847-31A>G)
c.949-31A>G (n.949-31A>G)
c.859-31A>G (n.859-31A>G)
c.850-31A>G (n.850-31A>G)
dbSNP
3g.123325494G>ACA82899500ADCY5c.625-32C>T (n.625-32C>T)
c.913-32C>T (n.913-32C>T)
c.1948-32C>T (n.1948-32C>T)
n.207-32C>T
c.898-32C>T (n.898-32C>T)
c.847-32C>T (n.847-32C>T)
c.949-32C>T (n.949-32C>T)
c.859-32C>T (n.859-32C>T)
c.850-32C>T (n.850-32C>T)
dbSNP
3g.123325494G=CA1398346316ADCY5c.625-32C= (n.625-32C=)
c.913-32C= (n.913-32C=)
c.1948-32C= (n.1948-32C=)
n.207-32C=
c.898-32C= (n.898-32C=)
c.847-32C= (n.847-32C=)
c.949-32C= (n.949-32C=)
c.859-32C= (n.859-32C=)
c.850-32C= (n.850-32C=)
3g.123325495_123325496insCCCACCACA2525480493ADCY5c.625-33_625-32insGGTGGGT (n.625-33_625-32insGGTGGGT)
c.913-33_913-32insGGTGGGT (n.913-33_913-32insGGTGGGT)
c.1948-33_1948-32insGGTGGGT (n.1948-33_1948-32insGGTGGGT)
n.207-33_207-32insGGTGGGT
c.898-33_898-32insGGTGGGT (n.898-33_898-32insGGTGGGT)
c.847-33_847-32insGGTGGGT (n.847-33_847-32insGGTGGGT)
c.949-33_949-32insGGTGGGT (n.949-33_949-32insGGTGGGT)
c.859-33_859-32insGGTGGGT (n.859-33_859-32insGGTGGGT)
c.850-33_850-32insGGTGGGT (n.850-33_850-32insGGTGGGT)
3g.123325496G>CCA898166828ADCY5c.625-34C>G (n.625-34C>G)
c.913-34C>G (n.913-34C>G)
c.1948-34C>G (n.1948-34C>G)
n.207-34C>G
c.898-34C>G (n.898-34C>G)
c.847-34C>G (n.847-34C>G)
c.949-34C>G (n.949-34C>G)
c.859-34C>G (n.859-34C>G)
c.850-34C>G (n.850-34C>G)
dbSNP
3g.123325496G=CA1398346317ADCY5c.625-34C= (n.625-34C=)
c.913-34C= (n.913-34C=)
c.1948-34C= (n.1948-34C=)
n.207-34C=
c.898-34C= (n.898-34C=)
c.847-34C= (n.847-34C=)
c.949-34C= (n.949-34C=)
c.859-34C= (n.859-34C=)
c.850-34C= (n.850-34C=)
3g.123325496G>TCA545686540ADCY5c.625-34C>A (n.625-34C>A)
c.913-34C>A (n.913-34C>A)
c.1948-34C>A (n.1948-34C>A)
n.207-34C>A
c.898-34C>A (n.898-34C>A)
c.847-34C>A (n.847-34C>A)
c.949-34C>A (n.949-34C>A)
c.859-34C>A (n.859-34C>A)
c.850-34C>A (n.850-34C>A)
dbSNP gnomAD v2
3g.123325497G>ACA898166843ADCY5c.625-35C>T (n.625-35C>T)
c.913-35C>T (n.913-35C>T)
c.1948-35C>T (n.1948-35C>T)
n.207-35C>T
c.898-35C>T (n.898-35C>T)
c.847-35C>T (n.847-35C>T)
c.949-35C>T (n.949-35C>T)
c.859-35C>T (n.859-35C>T)
c.850-35C>T (n.850-35C>T)
dbSNP gnomAD v3 gnomAD v4
3g.123325497G>CCA2667293691ADCY5c.625-35C>G (n.625-35C>G)
c.913-35C>G (n.913-35C>G)
c.1948-35C>G (n.1948-35C>G)
n.207-35C>G
c.898-35C>G (n.898-35C>G)
c.847-35C>G (n.847-35C>G)
c.949-35C>G (n.949-35C>G)
c.859-35C>G (n.859-35C>G)
c.850-35C>G (n.850-35C>G)
gnomAD v4
3g.123325497G=CA1398346318ADCY5c.625-35C= (n.625-35C=)
c.913-35C= (n.913-35C=)
c.1948-35C= (n.1948-35C=)
n.207-35C=
c.898-35C= (n.898-35C=)
c.847-35C= (n.847-35C=)
c.949-35C= (n.949-35C=)
c.859-35C= (n.859-35C=)
c.850-35C= (n.850-35C=)
3g.123325497_123325498insTGCA2511562898ADCY5c.625-35_625-34insAC (n.625-35_625-34insAC)
c.913-35_913-34insAC (n.913-35_913-34insAC)
c.1948-35_1948-34insAC (n.1948-35_1948-34insAC)
n.207-35_207-34insAC
c.898-35_898-34insAC (n.898-35_898-34insAC)
c.847-35_847-34insAC (n.847-35_847-34insAC)
c.949-35_949-34insAC (n.949-35_949-34insAC)
c.859-35_859-34insAC (n.859-35_859-34insAC)
c.850-35_850-34insAC (n.850-35_850-34insAC)
3g.123325498A=CA1398346319ADCY5c.625-36T= (n.625-36T=)
c.913-36T= (n.913-36T=)
c.1948-36T= (n.1948-36T=)
n.207-36T=
c.898-36T= (n.898-36T=)
c.847-36T= (n.847-36T=)
c.949-36T= (n.949-36T=)
c.859-36T= (n.859-36T=)
c.850-36T= (n.850-36T=)
3g.123325498A>GCA1053006065ADCY5c.625-36T>C (n.625-36T>C)
c.913-36T>C (n.913-36T>C)
c.1948-36T>C (n.1948-36T>C)
n.207-36T>C
c.898-36T>C (n.898-36T>C)
c.847-36T>C (n.847-36T>C)
c.949-36T>C (n.949-36T>C)
c.859-36T>C (n.859-36T>C)
c.850-36T>C (n.850-36T>C)
dbSNP gnomAD v3 gnomAD v4
3g.123325498A>TCA2667293692ADCY5c.625-36T>A (n.625-36T>A)
c.913-36T>A (n.913-36T>A)
c.1948-36T>A (n.1948-36T>A)
n.207-36T>A
c.898-36T>A (n.898-36T>A)
c.847-36T>A (n.847-36T>A)
c.949-36T>A (n.949-36T>A)
c.859-36T>A (n.859-36T>A)
c.850-36T>A (n.850-36T>A)
gnomAD v4
3g.123325499G>ACA2577875168ADCY5c.625-37C>T (n.625-37C>T)
c.913-37C>T (n.913-37C>T)
c.1948-37C>T (n.1948-37C>T)
n.207-37C>T
c.898-37C>T (n.898-37C>T)
c.847-37C>T (n.847-37C>T)
c.949-37C>T (n.949-37C>T)
c.859-37C>T (n.859-37C>T)
c.850-37C>T (n.850-37C>T)
3g.123325499G>CCA2577312ADCY5c.625-37C>G (n.625-37C>G)
c.913-37C>G (n.913-37C>G)
c.1948-37C>G (n.1948-37C>G)
n.207-37C>G
c.898-37C>G (n.898-37C>G)
c.847-37C>G (n.847-37C>G)
c.949-37C>G (n.949-37C>G)
c.859-37C>G (n.859-37C>G)
c.850-37C>G (n.850-37C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.123325499G=CA1398346320ADCY5c.625-37C= (n.625-37C=)
c.913-37C= (n.913-37C=)
c.1948-37C= (n.1948-37C=)
n.207-37C=
c.898-37C= (n.898-37C=)
c.847-37C= (n.847-37C=)
c.949-37C= (n.949-37C=)
c.859-37C= (n.859-37C=)
c.850-37C= (n.850-37C=)
3g.123325500T>CCA898166850ADCY5c.625-38A>G (n.625-38A>G)
c.913-38A>G (n.913-38A>G)
c.1948-38A>G (n.1948-38A>G)
n.207-38A>G
c.898-38A>G (n.898-38A>G)
c.847-38A>G (n.847-38A>G)
c.949-38A>G (n.949-38A>G)
c.859-38A>G (n.859-38A>G)
c.850-38A>G (n.850-38A>G)
dbSNP gnomAD v4
3g.123325500T=CA1398346321ADCY5c.625-38A= (n.625-38A=)
c.913-38A= (n.913-38A=)
c.1948-38A= (n.1948-38A=)
n.207-38A=
c.898-38A= (n.898-38A=)
c.847-38A= (n.847-38A=)
c.949-38A= (n.949-38A=)
c.859-38A= (n.859-38A=)
c.850-38A= (n.850-38A=)
3g.123325501C>TCA2577875169ADCY5c.625-39G>A (n.625-39G>A)
c.913-39G>A (n.913-39G>A)
c.1948-39G>A (n.1948-39G>A)
n.207-39G>A
c.898-39G>A (n.898-39G>A)
c.847-39G>A (n.847-39G>A)
c.949-39G>A (n.949-39G>A)
c.859-39G>A (n.859-39G>A)
c.850-39G>A (n.850-39G>A)
3g.123325505G>ACA2667293693ADCY5c.625-43C>T (n.625-43C>T)
c.913-43C>T (n.913-43C>T)
c.1948-43C>T (n.1948-43C>T)
n.207-43C>T
c.898-43C>T (n.898-43C>T)
c.847-43C>T (n.847-43C>T)
c.949-43C>T (n.949-43C>T)
c.859-43C>T (n.859-43C>T)
c.850-43C>T (n.850-43C>T)
gnomAD v4
3g.123325506_123325507delCA2558183410ADCY5c.625-44_625-43del (n.625-44_625-43del)
c.913-44_913-43del (n.913-44_913-43del)
c.1948-44_1948-43del (n.1948-44_1948-43del)
n.207-44_207-43del
c.898-44_898-43del (n.898-44_898-43del)
c.847-44_847-43del (n.847-44_847-43del)
c.949-44_949-43del (n.949-44_949-43del)
c.859-44_859-43del (n.859-44_859-43del)
c.850-44_850-43del (n.850-44_850-43del)
3g.123325506C>ACA2577314ADCY5c.625-44G>T (n.625-44G>T)
c.913-44G>T (n.913-44G>T)
c.1948-44G>T (n.1948-44G>T)
n.207-44G>T
c.898-44G>T (n.898-44G>T)
c.847-44G>T (n.847-44G>T)
c.949-44G>T (n.949-44G>T)
c.859-44G>T (n.859-44G>T)
c.850-44G>T (n.850-44G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.123325506C=CA1398346322ADCY5c.625-44G= (n.625-44G=)
c.913-44G= (n.913-44G=)
c.1948-44G= (n.1948-44G=)
n.207-44G=
c.898-44G= (n.898-44G=)
c.847-44G= (n.847-44G=)
c.949-44G= (n.949-44G=)
c.859-44G= (n.859-44G=)
c.850-44G= (n.850-44G=)
3g.123325506C>GCA2667293694ADCY5c.625-44G>C (n.625-44G>C)
c.913-44G>C (n.913-44G>C)
c.1948-44G>C (n.1948-44G>C)
n.207-44G>C
c.898-44G>C (n.898-44G>C)
c.847-44G>C (n.847-44G>C)
c.949-44G>C (n.949-44G>C)
c.859-44G>C (n.859-44G>C)
c.850-44G>C (n.850-44G>C)
gnomAD v4
3g.123325506C>TCA2577313ADCY5c.625-44G>A (n.625-44G>A)
c.913-44G>A (n.913-44G>A)
c.1948-44G>A (n.1948-44G>A)
n.207-44G>A
c.898-44G>A (n.898-44G>A)
c.847-44G>A (n.847-44G>A)
c.949-44G>A (n.949-44G>A)
c.859-44G>A (n.859-44G>A)
c.850-44G>A (n.850-44G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123325507G>ACA82899514ADCY5c.625-45C>T (n.625-45C>T)
c.913-45C>T (n.913-45C>T)
c.1948-45C>T (n.1948-45C>T)
n.207-45C>T
c.898-45C>T (n.898-45C>T)
c.847-45C>T (n.847-45C>T)
c.949-45C>T (n.949-45C>T)
c.859-45C>T (n.859-45C>T)
c.850-45C>T (n.850-45C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.123325507G=CA1398346323ADCY5c.625-45C= (n.625-45C=)
c.913-45C= (n.913-45C=)
c.1948-45C= (n.1948-45C=)
n.207-45C=
c.898-45C= (n.898-45C=)
c.847-45C= (n.847-45C=)
c.949-45C= (n.949-45C=)
c.859-45C= (n.859-45C=)
c.850-45C= (n.850-45C=)
3g.123325509A>CCA2667293695ADCY5c.625-47T>G (n.625-47T>G)
c.913-47T>G (n.913-47T>G)
c.1948-47T>G (n.1948-47T>G)
n.207-47T>G
c.898-47T>G (n.898-47T>G)
c.847-47T>G (n.847-47T>G)
c.949-47T>G (n.949-47T>G)
c.859-47T>G (n.859-47T>G)
c.850-47T>G (n.850-47T>G)
gnomAD v4
3g.123325509_123325552delinsAGGGCTCCTCACCCTTCCCCAAACATCGTACCTGGCCAGGTAAGCA1398346324ADCY5c.625-90_625-47delinsCTTACCTGGCCAGGTACGATGTTTGGGGAAGGGTGAGGAGCCCT (n.625-90_625-47delinsCTTACCTGGCCAGGTACGATGTTTGGGGAAGGGTGAGGAGCCCT)
c.913-90_913-47delinsCTTACCTGGCCAGGTACGATGTTTGGGGAAGGGTGAGGAGCCCT (n.913-90_913-47delinsCTTACCTGGCCAGGTACGATGTTTGGGGAAGGGTGAGGAGCCCT)
c.1948-90_1948-47delinsCTTACCTGGCCAGGTACGATGTTTGGGGAAGGGTGAGGAGCCCT (n.1948-90_1948-47delinsCTTACCTGGCCAGGTACGATGTTTGGGGAAGGGTGAGGAGCCCT)
n.207-90_207-47delinsCTTACCTGGCCAGGTACGATGTTTGGGGAAGGGTGAGGAGCCCT
c.898-90_898-47delinsCTTACCTGGCCAGGTACGATGTTTGGGGAAGGGTGAGGAGCCCT (n.898-90_898-47delinsCTTACCTGGCCAGGTACGATGTTTGGGGAAGGGTGAGGAGCCCT)
c.847-90_847-47delinsCTTACCTGGCCAGGTACGATGTTTGGGGAAGGGTGAGGAGCCCT (n.847-90_847-47delinsCTTACCTGGCCAGGTACGATGTTTGGGGAAGGGTGAGGAGCCCT)
c.949-90_949-47delinsCTTACCTGGCCAGGTACGATGTTTGGGGAAGGGTGAGGAGCCCT (n.949-90_949-47delinsCTTACCTGGCCAGGTACGATGTTTGGGGAAGGGTGAGGAGCCCT)
c.859-90_859-47delinsCTTACCTGGCCAGGTACGATGTTTGGGGAAGGGTGAGGAGCCCT (n.859-90_859-47delinsCTTACCTGGCCAGGTACGATGTTTGGGGAAGGGTGAGGAGCCCT)
c.850-90_850-47delinsCTTACCTGGCCAGGTACGATGTTTGGGGAAGGGTGAGGAGCCCT (n.850-90_850-47delinsCTTACCTGGCCAGGTACGATGTTTGGGGAAGGGTGAGGAGCCCT)
3g.123325510G>ACA2508821147ADCY5c.625-48C>T (n.625-48C>T)
c.913-48C>T (n.913-48C>T)
c.1948-48C>T (n.1948-48C>T)
n.207-48C>T
c.898-48C>T (n.898-48C>T)
c.847-48C>T (n.847-48C>T)
c.949-48C>T (n.949-48C>T)
c.859-48C>T (n.859-48C>T)
c.850-48C>T (n.850-48C>T)
3g.123325510G=CA1398346325ADCY5c.625-48C= (n.625-48C=)
c.913-48C= (n.913-48C=)
c.1948-48C= (n.1948-48C=)
n.207-48C=
c.898-48C= (n.898-48C=)
c.847-48C= (n.847-48C=)
c.949-48C= (n.949-48C=)
c.859-48C= (n.859-48C=)
c.850-48C= (n.850-48C=)
3g.123325510G>TCA545686548ADCY5c.625-48C>A (n.625-48C>A)
c.913-48C>A (n.913-48C>A)
c.1948-48C>A (n.1948-48C>A)
n.207-48C>A
c.898-48C>A (n.898-48C>A)
c.847-48C>A (n.847-48C>A)
c.949-48C>A (n.949-48C>A)
c.859-48C>A (n.859-48C>A)
c.850-48C>A (n.850-48C>A)
dbSNP gnomAD v2 gnomAD v4
3g.123325515_123325557delCA2577315ADCY5c.625-90_625-48del (n.625-90_625-48del)
c.913-90_913-48del (n.913-90_913-48del)
c.1948-90_1948-48del (n.1948-90_1948-48del)
n.207-90_207-48del
c.898-90_898-48del (n.898-90_898-48del)
c.847-90_847-48del (n.847-90_847-48del)
c.949-90_949-48del (n.949-90_949-48del)
c.859-90_859-48del (n.859-90_859-48del)
c.850-90_850-48del (n.850-90_850-48del)
dbSNP ExAC gnomAD v3 gnomAD v4
3g.123325511G>TCA2577875170ADCY5c.625-49C>A (n.625-49C>A)
c.913-49C>A (n.913-49C>A)
c.1948-49C>A (n.1948-49C>A)
n.207-49C>A
c.898-49C>A (n.898-49C>A)
c.847-49C>A (n.847-49C>A)
c.949-49C>A (n.949-49C>A)
c.859-49C>A (n.859-49C>A)
c.850-49C>A (n.850-49C>A)
gnomAD v4
3g.123325512G>CCA2577316ADCY5c.625-50C>G (n.625-50C>G)
c.913-50C>G (n.913-50C>G)
c.1948-50C>G (n.1948-50C>G)
n.207-50C>G
c.898-50C>G (n.898-50C>G)
c.847-50C>G (n.847-50C>G)
c.949-50C>G (n.949-50C>G)
c.859-50C>G (n.859-50C>G)
c.850-50C>G (n.850-50C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.123325512G=CA1398346326ADCY5c.625-50C= (n.625-50C=)
c.913-50C= (n.913-50C=)
c.1948-50C= (n.1948-50C=)
n.207-50C=
c.898-50C= (n.898-50C=)
c.847-50C= (n.847-50C=)
c.949-50C= (n.949-50C=)
c.859-50C= (n.859-50C=)
c.850-50C= (n.850-50C=)
3g.123325512_123325513insAACA2535294229ADCY5c.625-51_625-50insTT (n.625-51_625-50insTT)
c.913-51_913-50insTT (n.913-51_913-50insTT)
c.1948-51_1948-50insTT (n.1948-51_1948-50insTT)
n.207-51_207-50insTT
c.898-51_898-50insTT (n.898-51_898-50insTT)
c.847-51_847-50insTT (n.847-51_847-50insTT)
c.949-51_949-50insTT (n.949-51_949-50insTT)
c.859-51_859-50insTT (n.859-51_859-50insTT)
c.850-51_850-50insTT (n.850-51_850-50insTT)
3g.123325513C>TCA2551482978ADCY5c.625-51G>A (n.625-51G>A)
c.913-51G>A (n.913-51G>A)
c.1948-51G>A (n.1948-51G>A)
n.207-51G>A
c.898-51G>A (n.898-51G>A)
c.847-51G>A (n.847-51G>A)
c.949-51G>A (n.949-51G>A)
c.859-51G>A (n.859-51G>A)
c.850-51G>A (n.850-51G>A)
gnomAD v4

Number of alleles fetched