| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.8117792_8126946del | CA2573154518 | ClinVar | ||
| 17 | g.8121687_8121703dup | CA981238465 | HES7 | c.570_586dup (p.Ala196GlyfsTer?) c.555_571dup (p.Ala191GlyfsTer?) c.675_691dup (p.Ala231GlyfsTer?) c.666_682dup (p.Ala228GlyfsTer?) c.657_673dup (p.Ala225GlyfsTer?) c.528_544dup (p.Ala182GlyfsTer?) n.69+1873_69+1889dup | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121687_8121703del | CA2635937009 | HES7 | c.570_586del (p.Asp191AlafsTer?) c.555_571del (p.Asp186AlafsTer?) c.675_691del (p.Asp226AlafsTer?) c.666_682del (p.Asp223AlafsTer?) c.657_673del (p.Asp220AlafsTer?) c.528_544del (p.Asp177AlafsTer?) n.69+1873_69+1889del | gnomAD v4 |
| 17 | g.8121689_8121690del | CA2635937042 | HES7 | c.575_576del (p.Ser192TrpfsTer?) c.560_561del (p.Ser187TrpfsTer?) c.680_681del (p.Ser227TrpfsTer?) c.671_672del (p.Ser224TrpfsTer?) c.662_663del (p.Ser221TrpfsTer?) c.533_534del (p.Ser178TrpfsTer?) n.69+1875_69+1876del | gnomAD v4 |
| 17 | g.8121689G>A | CA397987405 | HES7 | c.575C>T (p.Ser192Phe) c.560C>T (p.Ser187Phe) c.680C>T (p.Ser227Phe) c.671C>T (p.Ser224Phe) c.662C>T (p.Ser221Phe) c.533C>T (p.Ser178Phe) n.69+1875G>A | gnomAD v4 |
| 17 | g.8121689G>C | CA397987406 | HES7 | c.575C>G (p.Ser192Cys) c.560C>G (p.Ser187Cys) c.680C>G (p.Ser227Cys) c.671C>G (p.Ser224Cys) c.662C>G (p.Ser221Cys) c.533C>G (p.Ser178Cys) n.69+1875G>C | gnomAD v4 |
| 17 | g.8121689G>T | CA397987403 | HES7 | c.575C>A (p.Ser192Tyr) c.560C>A (p.Ser187Tyr) c.680C>A (p.Ser227Tyr) c.671C>A (p.Ser224Tyr) c.662C>A (p.Ser221Tyr) c.533C>A (p.Ser178Tyr) n.69+1875G>T | gnomAD v4 |
| 17 | g.8121690A>C | CA397987407 | HES7 | c.574T>G (p.Ser192Ala) c.559T>G (p.Ser187Ala) c.679T>G (p.Ser227Ala) c.670T>G (p.Ser224Ala) c.661T>G (p.Ser221Ala) c.532T>G (p.Ser178Ala) n.69+1876A>C | |
| 17 | g.8121690A>G | CA397987408 | HES7 | c.574T>C (p.Ser192Pro) c.559T>C (p.Ser187Pro) c.679T>C (p.Ser227Pro) c.670T>C (p.Ser224Pro) c.661T>C (p.Ser221Pro) c.532T>C (p.Ser178Pro) n.69+1876A>G | gnomAD v4 |
| 17 | g.8121690A>T | CA397987409 | HES7 | c.574T>A (p.Ser192Thr) c.559T>A (p.Ser187Thr) c.679T>A (p.Ser227Thr) c.670T>A (p.Ser224Thr) c.661T>A (p.Ser221Thr) c.532T>A (p.Ser178Thr) n.69+1876A>T | |
| 17 | g.8121691A>C | CA397987410 | HES7 | c.573T>G (p.Asp191Glu) c.558T>G (p.Asp186Glu) c.678T>G (p.Asp226Glu) c.669T>G (p.Asp223Glu) c.660T>G (p.Asp220Glu) c.531T>G (p.Asp177Glu) n.69+1877A>C | |
| 17 | g.8121691A>G | CA497760873 | HES7 | c.573T>C (p.Asp191=) c.558T>C (p.Asp186=) c.678T>C (p.Asp226=) c.669T>C (p.Asp223=) c.660T>C (p.Asp220=) c.531T>C (p.Asp177=) n.69+1877A>G | gnomAD v4 |
| 17 | g.8121691A>T | CA397987412 | HES7 | c.573T>A (p.Asp191Glu) c.558T>A (p.Asp186Glu) c.678T>A (p.Asp226Glu) c.669T>A (p.Asp223Glu) c.660T>A (p.Asp220Glu) c.531T>A (p.Asp177Glu) n.69+1877A>T | gnomAD v4 |
| 17 | g.8121692T>A | CA397987417 | HES7 | c.572A>T (p.Asp191Val) c.557A>T (p.Asp186Val) c.677A>T (p.Asp226Val) c.668A>T (p.Asp223Val) c.659A>T (p.Asp220Val) c.530A>T (p.Asp177Val) n.69+1878T>A | gnomAD v4 |
| 17 | g.8121692T>C | CA397987416 | HES7 | c.572A>G (p.Asp191Gly) c.557A>G (p.Asp186Gly) c.677A>G (p.Asp226Gly) c.668A>G (p.Asp223Gly) c.659A>G (p.Asp220Gly) c.530A>G (p.Asp177Gly) n.69+1878T>C | gnomAD v4 |
| 17 | g.8121692T>G | CA397987414 | HES7 | c.572A>C (p.Asp191Ala) c.557A>C (p.Asp186Ala) c.677A>C (p.Asp226Ala) c.668A>C (p.Asp223Ala) c.659A>C (p.Asp220Ala) c.530A>C (p.Asp177Ala) n.69+1878T>G | |
| 17 | g.8121692_8121693delinsTC | CA2246160072 | HES7 | c.571_572delinsGA (p.Asp191=) c.556_557delinsGA (p.Asp186=) c.676_677delinsGA (p.Asp226=) c.667_668delinsGA (p.Asp223=) c.658_659delinsGA (p.Asp220=) c.529_530delinsGA (p.Asp177=) n.69+1878_69+1879delinsTC | |
| 17 | g.8121693C>A | CA129404 | HES7 | c.571G>T (p.Asp191Tyr) c.556G>T (p.Asp186Tyr) c.676G>T (p.Asp226Tyr) c.667G>T (p.Asp223Tyr) c.658G>T (p.Asp220Tyr) c.529G>T (p.Asp177Tyr) n.69+1879C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121693C= | CA2246160078 | HES7 | c.571G= (p.Asp191=) c.556G= (p.Asp186=) c.676G= (p.Asp226=) c.667G= (p.Asp223=) c.658G= (p.Asp220=) c.529G= (p.Asp177=) n.69+1879C= | |
| 17 | g.8121693C>G | CA397987423 | HES7 | c.571G>C (p.Asp191His) c.556G>C (p.Asp186His) c.676G>C (p.Asp226His) c.667G>C (p.Asp223His) c.658G>C (p.Asp220His) c.529G>C (p.Asp177His) n.69+1879C>G | |
| 17 | g.8121693C>T | CA397987427 | HES7 | c.571G>A (p.Asp191Asn) c.556G>A (p.Asp186Asn) c.676G>A (p.Asp226Asn) c.667G>A (p.Asp223Asn) c.658G>A (p.Asp220Asn) c.529G>A (p.Asp177Asn) n.69+1879C>T | gnomAD v4 |
| 17 | g.8121696del | CA624868560 | HES7 | c.571del (p.Asp191IlefsTer?) c.556del (p.Asp186IlefsTer?) c.676del (p.Asp226IlefsTer?) c.667del (p.Asp223IlefsTer?) c.658del (p.Asp220IlefsTer?) c.529del (p.Asp177IlefsTer?) n.69+1882del | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121694C>A | CA497955006 | HES7 | c.570G>T (p.Gly190=) c.555G>T (p.Gly185=) c.675G>T (p.Gly225=) c.666G>T (p.Gly222=) c.657G>T (p.Gly219=) c.528G>T (p.Gly176=) n.69+1880C>A | |
| 17 | g.8121694C>G | CA497955007 | HES7 | c.570G>C (p.Gly190=) c.555G>C (p.Gly185=) c.675G>C (p.Gly225=) c.666G>C (p.Gly222=) c.657G>C (p.Gly219=) c.528G>C (p.Gly176=) n.69+1880C>G | gnomAD v4 |
| 17 | g.8121694C>T | CA497955008 | HES7 | c.570G>A (p.Gly190=) c.555G>A (p.Gly185=) c.675G>A (p.Gly225=) c.666G>A (p.Gly222=) c.657G>A (p.Gly219=) c.528G>A (p.Gly176=) n.69+1880C>T | gnomAD v4 |
| 17 | g.8121695C>A | CA397987428 | HES7 | c.569G>T (p.Gly190Val) c.554G>T (p.Gly185Val) c.674G>T (p.Gly225Val) c.665G>T (p.Gly222Val) c.656G>T (p.Gly219Val) c.527G>T (p.Gly176Val) n.69+1881C>A | gnomAD v4 |
| 17 | g.8121695C= | CA2246160087 | HES7 | c.569G= (p.Gly190=) c.554G= (p.Gly185=) c.674G= (p.Gly225=) c.665G= (p.Gly222=) c.656G= (p.Gly219=) c.527G= (p.Gly176=) n.69+1881C= | |
| 17 | g.8121695C>G | CA397987432 | HES7 | c.569G>C (p.Gly190Ala) c.554G>C (p.Gly185Ala) c.674G>C (p.Gly225Ala) c.665G>C (p.Gly222Ala) c.656G>C (p.Gly219Ala) c.527G>C (p.Gly176Ala) n.69+1881C>G | dbSNP gnomAD v4 |
| 17 | g.8121695C>T | CA397987435 | HES7 | c.569G>A (p.Gly190Glu) c.554G>A (p.Gly185Glu) c.674G>A (p.Gly225Glu) c.665G>A (p.Gly222Glu) c.656G>A (p.Gly219Glu) c.527G>A (p.Gly176Glu) n.69+1881C>T | gnomAD v4 |
| 17 | g.8121696C>A | CA397987437 | HES7 | c.568G>T (p.Gly190Trp) c.553G>T (p.Gly185Trp) c.673G>T (p.Gly225Trp) c.664G>T (p.Gly222Trp) c.655G>T (p.Gly219Trp) c.526G>T (p.Gly176Trp) n.69+1882C>A | gnomAD v4 |
| 17 | g.8121696C>G | CA397987442 | HES7 | c.568G>C (p.Gly190Arg) c.553G>C (p.Gly185Arg) c.673G>C (p.Gly225Arg) c.664G>C (p.Gly222Arg) c.655G>C (p.Gly219Arg) c.526G>C (p.Gly176Arg) n.69+1882C>G | gnomAD v4 |
| 17 | g.8121696C>T | CA397987440 | HES7 | c.568G>A (p.Gly190Arg) c.553G>A (p.Gly185Arg) c.673G>A (p.Gly225Arg) c.664G>A (p.Gly222Arg) c.655G>A (p.Gly219Arg) c.526G>A (p.Gly176Arg) n.69+1882C>T | gnomAD v4 |
| 17 | g.8121697G>A | CA287537075 | HES7 | c.567C>T (p.Ala189=) c.552C>T (p.Ala184=) c.672C>T (p.Ala224=) c.663C>T (p.Ala221=) c.654C>T (p.Ala218=) c.525C>T (p.Ala175=) n.69+1883G>A | dbSNP gnomAD v4 |
| 17 | g.8121697G>C | CA497955011 | HES7 | c.567C>G (p.Ala189=) c.552C>G (p.Ala184=) c.672C>G (p.Ala224=) c.663C>G (p.Ala221=) c.654C>G (p.Ala218=) c.525C>G (p.Ala175=) n.69+1883G>C | dbSNP gnomAD v4 |
| 17 | g.8121697G= | CA2246160091 | HES7 | c.567C= (p.Ala189=) c.552C= (p.Ala184=) c.672C= (p.Ala224=) c.663C= (p.Ala221=) c.654C= (p.Ala218=) c.525C= (p.Ala175=) n.69+1883G= | |
| 17 | g.8121697G>T | CA497955012 | HES7 | c.567C>A (p.Ala189=) c.552C>A (p.Ala184=) c.672C>A (p.Ala224=) c.663C>A (p.Ala221=) c.654C>A (p.Ala218=) c.525C>A (p.Ala175=) n.69+1883G>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121697_8121701delinsGGCGC | CA2246160093 | HES7 | c.563_567delinsGCGCC (p.Arg188=) c.548_552delinsGCGCC (p.Arg183=) c.668_672delinsGCGCC (p.Arg223=) c.659_663delinsGCGCC (p.Arg220=) c.650_654delinsGCGCC (p.Arg217=) c.521_525delinsGCGCC (p.Arg174=) n.69+1883_69+1887delinsGGCGC | |
| 17 | g.8121698G>A | CA397987444 | HES7 | c.566C>T (p.Ala189Val) c.551C>T (p.Ala184Val) c.671C>T (p.Ala224Val) c.662C>T (p.Ala221Val) c.653C>T (p.Ala218Val) c.524C>T (p.Ala175Val) n.69+1884G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121698G>C | CA397987445 | HES7 | c.566C>G (p.Ala189Gly) c.551C>G (p.Ala184Gly) c.671C>G (p.Ala224Gly) c.662C>G (p.Ala221Gly) c.653C>G (p.Ala218Gly) c.524C>G (p.Ala175Gly) n.69+1884G>C | |
| 17 | g.8121698G= | CA2246160103 | HES7 | c.566C= (p.Ala189=) c.551C= (p.Ala184=) c.671C= (p.Ala224=) c.662C= (p.Ala221=) c.653C= (p.Ala218=) c.524C= (p.Ala175=) n.69+1884G= | |
| 17 | g.8121698G>T | CA397987448 | HES7 | c.566C>A (p.Ala189Asp) c.551C>A (p.Ala184Asp) c.671C>A (p.Ala224Asp) c.662C>A (p.Ala221Asp) c.653C>A (p.Ala218Asp) c.524C>A (p.Ala175Asp) n.69+1884G>T | gnomAD v4 |
| 17 | g.8121703_8121704dup | CA2635937105 | HES7 | c.565_566dup (p.Gly190ProfsTer?) c.550_551dup (p.Gly185ProfsTer?) c.670_671dup (p.Gly225ProfsTer?) c.661_662dup (p.Gly222ProfsTer?) c.652_653dup (p.Gly219ProfsTer?) c.523_524dup (p.Gly176ProfsTer?) n.69+1889_69+1890dup | gnomAD v4 |
| 17 | g.8121703_8121704del | CA775623301 | HES7 | c.565_566del (p.Ala189ArgfsTer?) c.550_551del (p.Ala184ArgfsTer?) c.670_671del (p.Ala224ArgfsTer?) c.661_662del (p.Ala221ArgfsTer?) c.652_653del (p.Ala218ArgfsTer?) c.523_524del (p.Ala175ArgfsTer?) n.69+1889_69+1890del | dbSNP |
| 17 | g.8121701_8121704del | CA2246160100 | HES7 | c.563_566del (p.Arg188ProfsTer?) c.548_551del (p.Arg183ProfsTer?) c.668_671del (p.Arg223ProfsTer?) c.659_662del (p.Arg220ProfsTer?) c.650_653del (p.Arg217ProfsTer?) c.521_524del (p.Arg174ProfsTer?) n.69+1887_69+1890del | dbSNP |
| 17 | g.8121699C>A | CA397987452 | HES7 | c.565G>T (p.Ala189Ser) c.550G>T (p.Ala184Ser) c.670G>T (p.Ala224Ser) c.661G>T (p.Ala221Ser) c.652G>T (p.Ala218Ser) c.523G>T (p.Ala175Ser) n.69+1885C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121699C= | CA2246160112 | HES7 | c.565G= (p.Ala189=) c.550G= (p.Ala184=) c.670G= (p.Ala224=) c.661G= (p.Ala221=) c.652G= (p.Ala218=) c.523G= (p.Ala175=) n.69+1885C= | |
| 17 | g.8121699C>G | CA397987454 | HES7 | c.565G>C (p.Ala189Pro) c.550G>C (p.Ala184Pro) c.670G>C (p.Ala224Pro) c.661G>C (p.Ala221Pro) c.652G>C (p.Ala218Pro) c.523G>C (p.Ala175Pro) n.69+1885C>G | |
| 17 | g.8121699C>T | CA397987458 | HES7 | c.565G>A (p.Ala189Thr) c.550G>A (p.Ala184Thr) c.670G>A (p.Ala224Thr) c.661G>A (p.Ala221Thr) c.652G>A (p.Ala218Thr) c.523G>A (p.Ala175Thr) n.69+1885C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121700G>A | CA497955018 | HES7 | c.564C>T (p.Arg188=) c.549C>T (p.Arg183=) c.669C>T (p.Arg223=) c.660C>T (p.Arg220=) c.651C>T (p.Arg217=) c.522C>T (p.Arg174=) n.69+1886G>A | gnomAD v4 |
| 17 | g.8121700G>C | CA497955019 | HES7 | c.564C>G (p.Arg188=) c.549C>G (p.Arg183=) c.669C>G (p.Arg223=) c.660C>G (p.Arg220=) c.651C>G (p.Arg217=) c.522C>G (p.Arg174=) n.69+1886G>C | gnomAD v4 |
| 17 | g.8121700G>T | CA497955021 | HES7 | c.564C>A (p.Arg188=) c.549C>A (p.Arg183=) c.669C>A (p.Arg223=) c.660C>A (p.Arg220=) c.651C>A (p.Arg217=) c.522C>A (p.Arg174=) n.69+1886G>T | gnomAD v4 |
| 17 | g.8121701C>A | CA397987470 | HES7 | c.563G>T (p.Arg188Leu) c.548G>T (p.Arg183Leu) c.668G>T (p.Arg223Leu) c.659G>T (p.Arg220Leu) c.650G>T (p.Arg217Leu) c.521G>T (p.Arg174Leu) n.69+1887C>A | gnomAD v4 |
| 17 | g.8121701C>G | CA397987473 | HES7 | c.563G>C (p.Arg188Pro) c.548G>C (p.Arg183Pro) c.668G>C (p.Arg223Pro) c.659G>C (p.Arg220Pro) c.650G>C (p.Arg217Pro) c.521G>C (p.Arg174Pro) n.69+1887C>G | |
| 17 | g.8121701C>T | CA397987479 | HES7 | c.563G>A (p.Arg188His) c.548G>A (p.Arg183His) c.668G>A (p.Arg223His) c.659G>A (p.Arg220His) c.650G>A (p.Arg217His) c.521G>A (p.Arg174His) n.69+1887C>T | gnomAD v4 |
| 17 | g.8121702G>A | CA397987482 | HES7 | c.562C>T (p.Arg188Cys) c.547C>T (p.Arg183Cys) c.667C>T (p.Arg223Cys) c.658C>T (p.Arg220Cys) c.649C>T (p.Arg217Cys) c.520C>T (p.Arg174Cys) n.69+1888G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121702G>C | CA397987485 | HES7 | c.562C>G (p.Arg188Gly) c.547C>G (p.Arg183Gly) c.667C>G (p.Arg223Gly) c.658C>G (p.Arg220Gly) c.649C>G (p.Arg217Gly) c.520C>G (p.Arg174Gly) n.69+1888G>C | dbSNP |
| 17 | g.8121702G= | CA2246160113 | HES7 | c.562C= (p.Arg188=) c.547C= (p.Arg183=) c.667C= (p.Arg223=) c.658C= (p.Arg220=) c.649C= (p.Arg217=) c.520C= (p.Arg174=) n.69+1888G= | |
| 17 | g.8121702G>T | CA397987489 | HES7 | c.562C>A (p.Arg188Ser) c.547C>A (p.Arg183Ser) c.667C>A (p.Arg223Ser) c.658C>A (p.Arg220Ser) c.649C>A (p.Arg217Ser) c.520C>A (p.Arg174Ser) n.69+1888G>T | gnomAD v4 |
| 17 | g.8121703C>A | CA497955024 | HES7 | c.561G>T (p.Pro187=) c.546G>T (p.Pro182=) c.666G>T (p.Pro222=) c.657G>T (p.Pro219=) c.648G>T (p.Pro216=) c.519G>T (p.Pro173=) n.69+1889C>A | dbSNP gnomAD v4 |
| 17 | g.8121703C= | CA2246160115 | HES7 | c.561G= (p.Pro187=) c.546G= (p.Pro182=) c.666G= (p.Pro222=) c.657G= (p.Pro219=) c.648G= (p.Pro216=) c.519G= (p.Pro173=) n.69+1889C= | |
| 17 | g.8121703C>G | CA497955025 | HES7 | c.561G>C (p.Pro187=) c.546G>C (p.Pro182=) c.666G>C (p.Pro222=) c.657G>C (p.Pro219=) c.648G>C (p.Pro216=) c.519G>C (p.Pro173=) n.69+1889C>G | ClinVar |
| 17 | g.8121703C>T | CA497955026 | HES7 | c.561G>A (p.Pro187=) c.546G>A (p.Pro182=) c.666G>A (p.Pro222=) c.657G>A (p.Pro219=) c.648G>A (p.Pro216=) c.519G>A (p.Pro173=) n.69+1889C>T | dbSNP gnomAD v4 |
| 17 | g.8121704G>A | CA397987501 | HES7 | c.560C>T (p.Pro187Leu) c.545C>T (p.Pro182Leu) c.665C>T (p.Pro222Leu) c.656C>T (p.Pro219Leu) c.647C>T (p.Pro216Leu) c.518C>T (p.Pro173Leu) n.69+1890G>A | dbSNP gnomAD v4 |
| 17 | g.8121704G>C | CA397987503 | HES7 | c.560C>G (p.Pro187Arg) c.545C>G (p.Pro182Arg) c.665C>G (p.Pro222Arg) c.656C>G (p.Pro219Arg) c.647C>G (p.Pro216Arg) c.518C>G (p.Pro173Arg) n.69+1890G>C | |
| 17 | g.8121704G= | CA2246160121 | HES7 | c.560C= (p.Pro187=) c.545C= (p.Pro182=) c.665C= (p.Pro222=) c.656C= (p.Pro219=) c.647C= (p.Pro216=) c.518C= (p.Pro173=) n.69+1890G= | |
| 17 | g.8121704G>T | CA397987499 | HES7 | c.560C>A (p.Pro187Gln) c.545C>A (p.Pro182Gln) c.665C>A (p.Pro222Gln) c.656C>A (p.Pro219Gln) c.647C>A (p.Pro216Gln) c.518C>A (p.Pro173Gln) n.69+1890G>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121707del | CA2635937134 | HES7 | c.560del (p.Pro187ArgfsTer?) c.545del (p.Pro182ArgfsTer?) c.665del (p.Pro222ArgfsTer?) c.656del (p.Pro219ArgfsTer?) c.647del (p.Pro216ArgfsTer?) c.518del (p.Pro173ArgfsTer?) n.69+1893del | gnomAD v4 |
| 17 | g.8121705G>A | CA397987511 | HES7 | c.559C>T (p.Pro187Ser) c.544C>T (p.Pro182Ser) c.664C>T (p.Pro222Ser) c.655C>T (p.Pro219Ser) c.646C>T (p.Pro216Ser) c.517C>T (p.Pro173Ser) n.69+1891G>A | gnomAD v4 |
| 17 | g.8121705G>C | CA397987508 | HES7 | c.559C>G (p.Pro187Ala) c.544C>G (p.Pro182Ala) c.664C>G (p.Pro222Ala) c.655C>G (p.Pro219Ala) c.646C>G (p.Pro216Ala) c.517C>G (p.Pro173Ala) n.69+1891G>C | |
| 17 | g.8121705G>T | CA397987516 | HES7 | c.559C>A (p.Pro187Thr) c.544C>A (p.Pro182Thr) c.664C>A (p.Pro222Thr) c.655C>A (p.Pro219Thr) c.646C>A (p.Pro216Thr) c.517C>A (p.Pro173Thr) n.69+1891G>T | gnomAD v4 |
| 17 | g.8121706G>A | CA497955029 | HES7 | c.558C>T (p.Ser186=) c.543C>T (p.Ser181=) c.663C>T (p.Ser221=) c.654C>T (p.Ser218=) c.645C>T (p.Ser215=) c.516C>T (p.Ser172=) n.69+1892G>A | dbSNP gnomAD v4 |
| 17 | g.8121706G>C | CA497955031 | HES7 | c.558C>G (p.Ser186=) c.543C>G (p.Ser181=) c.663C>G (p.Ser221=) c.654C>G (p.Ser218=) c.645C>G (p.Ser215=) c.516C>G (p.Ser172=) n.69+1892G>C | gnomAD v4 |
| 17 | g.8121706G= | CA2246160124 | HES7 | c.558C= (p.Ser186=) c.543C= (p.Ser181=) c.663C= (p.Ser221=) c.654C= (p.Ser218=) c.645C= (p.Ser215=) c.516C= (p.Ser172=) n.69+1892G= | |
| 17 | g.8121706G>T | CA497955030 | HES7 | c.558C>A (p.Ser186=) c.543C>A (p.Ser181=) c.663C>A (p.Ser221=) c.654C>A (p.Ser218=) c.645C>A (p.Ser215=) c.516C>A (p.Ser172=) n.69+1892G>T | gnomAD v4 |
| 17 | g.8121707G>A | CA397987521 | HES7 | c.557C>T (p.Ser186Phe) c.542C>T (p.Ser181Phe) c.662C>T (p.Ser221Phe) c.653C>T (p.Ser218Phe) c.644C>T (p.Ser215Phe) c.515C>T (p.Ser172Phe) n.69+1893G>A | gnomAD v4 |
| 17 | g.8121707G>C | CA397987526 | HES7 | c.557C>G (p.Ser186Cys) c.542C>G (p.Ser181Cys) c.662C>G (p.Ser221Cys) c.653C>G (p.Ser218Cys) c.644C>G (p.Ser215Cys) c.515C>G (p.Ser172Cys) n.69+1893G>C | |
| 17 | g.8121707G= | CA2246160131 | HES7 | c.557C= (p.Ser186=) c.542C= (p.Ser181=) c.662C= (p.Ser221=) c.653C= (p.Ser218=) c.644C= (p.Ser215=) c.515C= (p.Ser172=) n.69+1893G= | |
| 17 | g.8121707G>T | CA287537084 | HES7 | c.557C>A (p.Ser186Tyr) c.542C>A (p.Ser181Tyr) c.662C>A (p.Ser221Tyr) c.653C>A (p.Ser218Tyr) c.644C>A (p.Ser215Tyr) c.515C>A (p.Ser172Tyr) n.69+1893G>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.8121708del | CA2635937155 | HES7 | c.556del (p.Ser186ProfsTer?) c.541del (p.Ser181ProfsTer?) c.661del (p.Ser221ProfsTer?) c.652del (p.Ser218ProfsTer?) c.643del (p.Ser215ProfsTer?) c.514del (p.Ser172ProfsTer?) n.69+1894del | gnomAD v4 |
| 17 | g.8121708A>C | CA397987531 | HES7 | c.556T>G (p.Ser186Ala) c.541T>G (p.Ser181Ala) c.661T>G (p.Ser221Ala) c.652T>G (p.Ser218Ala) c.643T>G (p.Ser215Ala) c.514T>G (p.Ser172Ala) n.69+1894A>C | |
| 17 | g.8121708A>G | CA397987538 | HES7 | c.556T>C (p.Ser186Pro) c.541T>C (p.Ser181Pro) c.661T>C (p.Ser221Pro) c.652T>C (p.Ser218Pro) c.643T>C (p.Ser215Pro) c.514T>C (p.Ser172Pro) n.69+1894A>G | gnomAD v4 |
| 17 | g.8121708A>T | CA397987535 | HES7 | c.556T>A (p.Ser186Thr) c.541T>A (p.Ser181Thr) c.661T>A (p.Ser221Thr) c.652T>A (p.Ser218Thr) c.643T>A (p.Ser215Thr) c.514T>A (p.Ser172Thr) n.69+1894A>T | |
| 17 | g.8121709G>A | CA497955035 | HES7 | c.555C>T (p.Cys185=) c.540C>T (p.Cys180=) c.660C>T (p.Cys220=) c.651C>T (p.Cys217=) c.642C>T (p.Cys214=) c.513C>T (p.Cys171=) n.69+1895G>A | gnomAD v4 |
| 17 | g.8121709G>C | CA397987546 | HES7 | c.555C>G (p.Cys185Trp) c.540C>G (p.Cys180Trp) c.660C>G (p.Cys220Trp) c.651C>G (p.Cys217Trp) c.642C>G (p.Cys214Trp) c.513C>G (p.Cys171Trp) n.69+1895G>C | |
| 17 | g.8121709G>T | CA397987551 | HES7 | c.555C>A (p.Cys185Ter) c.540C>A (p.Cys180Ter) c.660C>A (p.Cys220Ter) c.651C>A (p.Cys217Ter) c.642C>A (p.Cys214Ter) c.513C>A (p.Cys171Ter) n.69+1895G>T | gnomAD v4 |
| 17 | g.8121710del | CA2635937167 | HES7 | c.554del (p.Cys185SerfsTer?) c.539del (p.Cys180SerfsTer?) c.659del (p.Cys220SerfsTer?) c.650del (p.Cys217SerfsTer?) c.641del (p.Cys214SerfsTer?) c.512del (p.Cys171SerfsTer?) n.69+1896del | gnomAD v4 |
| 17 | g.8121710C>A | CA397987555 | HES7 | c.554G>T (p.Cys185Phe) c.539G>T (p.Cys180Phe) c.659G>T (p.Cys220Phe) c.650G>T (p.Cys217Phe) c.641G>T (p.Cys214Phe) c.512G>T (p.Cys171Phe) n.69+1896C>A | gnomAD v4 |
| 17 | g.8121710C= | CA2246160140 | HES7 | c.554G= (p.Cys185=) c.539G= (p.Cys180=) c.659G= (p.Cys220=) c.650G= (p.Cys217=) c.641G= (p.Cys214=) c.512G= (p.Cys171=) n.69+1896C= | |
| 17 | g.8121710C>G | CA397987556 | HES7 | c.554G>C (p.Cys185Ser) c.539G>C (p.Cys180Ser) c.659G>C (p.Cys220Ser) c.650G>C (p.Cys217Ser) c.641G>C (p.Cys214Ser) c.512G>C (p.Cys171Ser) n.69+1896C>G | dbSNP |
| 17 | g.8121710C>T | CA397987558 | HES7 | c.554G>A (p.Cys185Tyr) c.539G>A (p.Cys180Tyr) c.659G>A (p.Cys220Tyr) c.650G>A (p.Cys217Tyr) c.641G>A (p.Cys214Tyr) c.512G>A (p.Cys171Tyr) n.69+1896C>T | gnomAD v4 |
| 17 | g.8121711A= | CA2246160145 | HES7 | c.553T= (p.Cys185=) c.538T= (p.Cys180=) c.658T= (p.Cys220=) c.649T= (p.Cys217=) c.640T= (p.Cys214=) c.511T= (p.Cys171=) n.69+1897A= | |
| 17 | g.8121711A>C | CA397987563 | HES7 | c.553T>G (p.Cys185Gly) c.538T>G (p.Cys180Gly) c.658T>G (p.Cys220Gly) c.649T>G (p.Cys217Gly) c.640T>G (p.Cys214Gly) c.511T>G (p.Cys171Gly) n.69+1897A>C | |
| 17 | g.8121711A>G | CA397987565 | HES7 | c.553T>C (p.Cys185Arg) c.538T>C (p.Cys180Arg) c.658T>C (p.Cys220Arg) c.649T>C (p.Cys217Arg) c.640T>C (p.Cys214Arg) c.511T>C (p.Cys171Arg) n.69+1897A>G | gnomAD v4 |
| 17 | g.8121711A>T | CA397987567 | HES7 | c.553T>A (p.Cys185Ser) c.538T>A (p.Cys180Ser) c.658T>A (p.Cys220Ser) c.649T>A (p.Cys217Ser) c.640T>A (p.Cys214Ser) c.511T>A (p.Cys171Ser) n.69+1897A>T | |
| 17 | g.8121712G>A | CA497955040 | HES7 | c.552C>T (p.Leu184=) c.537C>T (p.Leu179=) c.657C>T (p.Leu219=) c.648C>T (p.Leu216=) c.639C>T (p.Leu213=) c.510C>T (p.Leu170=) n.69+1898G>A | dbSNP |
| 17 | g.8121712G>C | CA497955041 | HES7 | c.552C>G (p.Leu184=) c.537C>G (p.Leu179=) c.657C>G (p.Leu219=) c.648C>G (p.Leu216=) c.639C>G (p.Leu213=) c.510C>G (p.Leu170=) n.69+1898G>C | |
| 17 | g.8121712G>T | CA497955042 | HES7 | c.552C>A (p.Leu184=) c.537C>A (p.Leu179=) c.657C>A (p.Leu219=) c.648C>A (p.Leu216=) c.639C>A (p.Leu213=) c.510C>A (p.Leu170=) n.69+1898G>T | gnomAD v4 |
| 17 | g.8121712_8121713insGCAGCAGTCCGGTG | CA2246160149 | HES7 | c.552_553insACCGGACTGCTGCC (p.Cys185ThrfsTer?) c.537_538insACCGGACTGCTGCC (p.Cys180ThrfsTer?) c.657_658insACCGGACTGCTGCC (p.Cys220ThrfsTer?) c.648_649insACCGGACTGCTGCC (p.Cys217ThrfsTer?) c.639_640insACCGGACTGCTGCC (p.Cys214ThrfsTer?) c.510_511insACCGGACTGCTGCC (p.Cys171ThrfsTer?) n.69+1898_69+1899insGCAGCAGTCCGGTG | dbSNP |
| 17 | g.8121712dup | CA2576161670 | HES7 | c.552dup (p.Cys185LeufsTer?) c.537dup (p.Cys180LeufsTer?) c.657dup (p.Cys220LeufsTer?) c.648dup (p.Cys217LeufsTer?) c.639dup (p.Cys214LeufsTer?) c.510dup (p.Cys171LeufsTer?) n.69+1898dup | |
| 17 | g.8121713A>C | CA397987569 | HES7 | c.551T>G (p.Leu184Arg) c.536T>G (p.Leu179Arg) c.656T>G (p.Leu219Arg) c.647T>G (p.Leu216Arg) c.638T>G (p.Leu213Arg) c.509T>G (p.Leu170Arg) n.69+1899A>C | |
| 17 | g.8121713A>G | CA397987571 | HES7 | c.551T>C (p.Leu184Pro) c.536T>C (p.Leu179Pro) c.656T>C (p.Leu219Pro) c.647T>C (p.Leu216Pro) c.638T>C (p.Leu213Pro) c.509T>C (p.Leu170Pro) n.69+1899A>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.8121713A>T | CA397987572 | HES7 | c.551T>A (p.Leu184His) c.536T>A (p.Leu179His) c.656T>A (p.Leu219His) c.647T>A (p.Leu216His) c.638T>A (p.Leu213His) c.509T>A (p.Leu170His) n.69+1899A>T | gnomAD v4 |
| 17 | g.8121714G>A | CA397987587 | HES7 | c.550C>T (p.Leu184Phe) c.535C>T (p.Leu179Phe) c.655C>T (p.Leu219Phe) c.646C>T (p.Leu216Phe) c.637C>T (p.Leu213Phe) c.508C>T (p.Leu170Phe) n.69+1900G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121714G>C | CA397987574 | HES7 | c.550C>G (p.Leu184Val) c.535C>G (p.Leu179Val) c.655C>G (p.Leu219Val) c.646C>G (p.Leu216Val) c.637C>G (p.Leu213Val) c.508C>G (p.Leu170Val) n.69+1900G>C | |
| 17 | g.8121714G= | CA2246160151 | HES7 | c.550C= (p.Leu184=) c.535C= (p.Leu179=) c.655C= (p.Leu219=) c.646C= (p.Leu216=) c.637C= (p.Leu213=) c.508C= (p.Leu170=) n.69+1900G= | |
| 17 | g.8121714G>T | CA397987584 | HES7 | c.550C>A (p.Leu184Ile) c.535C>A (p.Leu179Ile) c.655C>A (p.Leu219Ile) c.646C>A (p.Leu216Ile) c.637C>A (p.Leu213Ile) c.508C>A (p.Leu170Ile) n.69+1900G>T | gnomAD v4 |
| 17 | g.8121715G>A | CA497955047 | HES7 | c.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 |
| 17 | g.8121715G>C | CA497955048 | HES7 | c.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 | |
| 17 | g.8121715G>T | CA497955049 | HES7 | c.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 |
| 17 | g.8121716G>A | CA397987588 | HES7 | c.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 |
| 17 | g.8121716G>C | CA397987590 | HES7 | c.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 | |
| 17 | g.8121716G>T | CA397987597 | HES7 | c.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 |
| 17 | g.8121717A= | CA2246160153 | HES7 | c.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= | |
| 17 | g.8121717A>C | CA397987600 | HES7 | c.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 | |
| 17 | g.8121717A>G | CA397987602 | HES7 | c.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 | |
| 17 | g.8121717A>T | CA397987605 | HES7 | c.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 |
| 17 | g.8121718T>A | CA497955056 | HES7 | c.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 | |
| 17 | g.8121718T>C | CA8368616 | HES7 | c.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 |
| 17 | g.8121718T>G | CA497955057 | HES7 | c.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 | |
| 17 | g.8121718T= | CA2246160160 | HES7 | c.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= | |
| 17 | g.8121719G>A | CA397987609 | HES7 | c.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 |
| 17 | g.8121719G>C | CA397987611 | HES7 | c.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 | |
| 17 | g.8121719G= | CA2246160167 | HES7 | c.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= | |
| 17 | g.8121719G>T | CA397987613 | HES7 | c.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 |
| 17 | g.8121722del | CA2635937199 | HES7 | c.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 |
| 17 | g.8121720G>A | CA397987620 | HES7 | c.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 |
| 17 | g.8121720G>C | CA397987618 | HES7 | c.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 |
| 17 | g.8121720G= | CA2246160179 | HES7 | c.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= | |
| 17 | g.8121720G>T | CA397987615 | HES7 | c.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 |
| 17 | g.8121721G>A | CA497955062 | HES7 | c.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 |
| 17 | g.8121721G>C | CA497955063 | HES7 | c.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 |
| 17 | g.8121721G>T | CA497955064 | HES7 | c.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 |
| 17 | g.8121722G>A | CA397987621 | HES7 | c.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 |
| 17 | g.8121722G>C | CA397987623 | HES7 | c.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 | |
| 17 | g.8121722G>T | CA397987626 | HES7 | c.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 |
| 17 | g.8121723A>C | CA397987629 | HES7 | c.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 | |
| 17 | g.8121723A>G | CA397987630 | HES7 | c.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 |
| 17 | g.8121723A>T | CA397987631 | HES7 | c.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 | |
| 17 | g.8121724C>A | CA397987632 | HES7 | c.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 |
| 17 | g.8121724C>G | CA397987633 | HES7 | c.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 | |
| 17 | g.8121724C>T | CA397987634 | HES7 | c.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 |
| 17 | g.8121725C>A | CA397987635 | HES7 | c.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 |
| 17 | g.8121725C= | CA2246160182 | HES7 | c.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= | |
| 17 | g.8121725C>G | CA397987636 | HES7 | c.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 |
| 17 | g.8121725C>T | CA397987637 | HES7 | c.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 |
| 17 | g.8121726A>C | CA397987642 | HES7 | c.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 |
| 17 | g.8121726A>G | CA397987639 | HES7 | c.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 |
| 17 | g.8121726A>T | CA397987640 | HES7 | c.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 | |
| 17 | g.8121727T>A | CA497955072 | HES7 | c.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 |
| 17 | g.8121727T>C | CA497955073 | HES7 | c.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 |
| 17 | g.8121727T>G | CA497955071 | HES7 | c.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 |
| 17 | g.8121727T= | CA2246160185 | HES7 | c.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= | |
| 17 | g.8121728G>A | CA397987645 | HES7 | c.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 |
| 17 | g.8121728G>C | CA397987647 | HES7 | c.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 | |
| 17 | g.8121728G>T | CA397987649 | HES7 | c.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 |
| 17 | g.8121729C>A | CA397987652 | HES7 | c.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 |
| 17 | g.8121729C= | CA2246160188 | HES7 | c.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= | |
| 17 | g.8121729C>G | CA397987654 | HES7 | c.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 | |
| 17 | g.8121729C>T | CA397987656 | HES7 | c.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 |
| 17 | g.8121730G>A | CA497955082 | HES7 | c.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 |
| 17 | g.8121730G>C | CA397987658 | HES7 | c.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 | |
| 17 | g.8121730G= | CA2246160190 | HES7 | c.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= | |
| 17 | g.8121730G>T | CA397987659 | HES7 | c.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 |
| 17 | g.8121731C>A | CA397987662 | HES7 | c.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 |
| 17 | g.8121731C>G | CA397987665 | HES7 | c.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 | |
| 17 | g.8121731C>T | CA397987667 | HES7 | c.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 |
| 17 | g.8121732A>C | CA397987676 | HES7 | c.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 | |
| 17 | g.8121732A>G | CA397987675 | HES7 | c.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 |
| 17 | g.8121732A>T | CA397987672 | HES7 | c.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 | |
| 17 | g.8121733G>A | CA497955087 | HES7 | c.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 |
| 17 | g.8121733G>C | CA497955089 | HES7 | c.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 |
| 17 | g.8121733G>T | CA497955088 | HES7 | c.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 |
| 17 | g.8121734C>A | CA397987677 | HES7 | c.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 |
| 17 | g.8121734C= | CA2246160192 | HES7 | c.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= | |
| 17 | g.8121734C>G | CA8368617 | HES7 | c.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 |
| 17 | g.8121734C>T | CA397987680 | HES7 | c.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 |
| 17 | g.8121735G>A | CA397987683 | HES7 | c.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 |
| 17 | g.8121735G>C | CA397987686 | HES7 | c.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 | |
| 17 | g.8121735G= | CA2246160197 | HES7 | c.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= | |
| 17 | g.8121735G>T | CA397987689 | HES7 | c.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 |
| 17 | g.8121736C>A | CA497955093 | HES7 | c.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 |
| 17 | g.8121736C= | CA2246160201 | HES7 | c.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= | |
| 17 | g.8121736C>G | CA497955094 | HES7 | c.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 |
| 17 | g.8121736C>T | CA497955095 | HES7 | c.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 |
| 17 | g.8121737G>A | CA397987692 | HES7 | c.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 |
| 17 | g.8121737G>C | CA397987694 | HES7 | c.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 | |
| 17 | g.8121737G= | CA2246160206 | HES7 | c.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= | |
| 17 | g.8121737G>T | CA397987696 | HES7 | c.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 |
| 17 | g.8121738G>A | CA287537106 | HES7 | c.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 |
| 17 | g.8121738G>C | CA397987701 | HES7 | c.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 | |
| 17 | g.8121738G= | CA2246160209 | HES7 | c.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= | |
| 17 | g.8121738G>T | CA397987704 | HES7 | c.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 |
| 17 | g.8121739G>A | CA497955100 | HES7 | c.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 |
| 17 | g.8121739G>C | CA397987706 | HES7 | c.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 |
| 17 | g.8121739G= | CA2246160212 | HES7 | c.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= | |
| 17 | g.8121739G>T | CA397987708 | HES7 | c.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 |
| 17 | g.8121740C>A | CA397987717 | HES7 | c.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 |
| 17 | g.8121740C>G | CA397987716 | HES7 | c.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 |
| 17 | g.8121740C>T | CA397987713 | HES7 | c.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 |
| 17 | g.8121741T>A | CA397987722 | HES7 | c.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 | |
| 17 | g.8121741T>C | CA397987724 | HES7 | c.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 |
| 17 | g.8121741T>G | CA397987726 | HES7 | c.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 | |
| 17 | g.8121742A>C | CA497955103 | HES7 | c.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 | |
| 17 | g.8121742A>G | CA497955104 | HES7 | c.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 |
| 17 | g.8121742A>T | CA497955105 | HES7 | c.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 | |
| 17 | g.8121743G>A | CA8368618 | HES7 | c.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 |
| 17 | g.8121743G>C | CA397987729 | HES7 | c.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 | |
| 17 | g.8121743G= | CA2246160215 | HES7 | c.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= | |
| 17 | g.8121743G>T | CA397987732 | HES7 | c.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 |
| 17 | g.8121746_8121763del | CA2576161671 | HES7 | c.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 |
| 17 | g.8121744G>A | CA397987734 | HES7 | c.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 | |
| 17 | g.8121744G>C | CA397987737 | HES7 | c.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 |
| 17 | g.8121744G>T | CA397987740 | HES7 | c.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 |
| 17 | g.8121748_8121756dup | CA2246160218 | HES7 | c.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 |
| 17 | g.8121745G>A | CA497955110 | HES7 | c.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 |
| 17 | g.8121745G>C | CA397987743 | HES7 | c.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 | |
| 17 | g.8121745G= | CA2246160221 | HES7 | c.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= | |
| 17 | g.8121745G>T | CA397987744 | HES7 | c.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 |
| 17 | g.8121746T>A | CA397987752 | HES7 | c.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 | |
| 17 | g.8121746T>C | CA397987749 | HES7 | c.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 | |
| 17 | g.8121746T>G | CA397987747 | HES7 | c.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 |
| 17 | g.8121747G>A | CA397987756 | HES7 | c.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 | |
| 17 | g.8121747G>C | CA397987758 | HES7 | c.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 | |
| 17 | g.8121747G>T | CA397987760 | HES7 | c.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 |
| 17 | g.8121748G>A | CA497955117 | HES7 | c.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 |
| 17 | g.8121748G>C | CA497955115 | HES7 | c.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 | |
| 17 | g.8121748G>T | CA497955113 | HES7 | c.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 |
| 17 | g.8121749C>A | CA397987762 | HES7 | c.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 |
| 17 | g.8121749C= | CA2246160224 | HES7 | c.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= | |
| 17 | g.8121749C>G | CA8368619 | HES7 | c.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 |
| 17 | g.8121749C>T | CA397987765 | HES7 | c.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 |
| 17 | g.8121750C>A | CA397987774 | HES7 | c.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 |
| 17 | g.8121750C= | CA2246160229 | HES7 | c.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= | |
| 17 | g.8121750C>G | CA397987770 | HES7 | c.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 |
| 17 | g.8121750C>T | CA397987772 | HES7 | c.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 |
| 17 | g.8121751C>A | CA397987778 | HES7 | c.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 |
| 17 | g.8121751C= | CA2246160235 | HES7 | c.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= | |
| 17 | g.8121751C>G | CA397987780 | HES7 | c.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 |
| 17 | g.8121751C>T | CA497955123 | HES7 | c.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 |
| 17 | g.8121759_8121776del | CA2576161672 | HES7 | c.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 |
| 17 | g.8121752T>A | CA397987784 | HES7 | c.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 | |
| 17 | g.8121752T>C | CA397987786 | HES7 | c.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 |
| 17 | g.8121752T>G | CA397987787 | HES7 | c.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 |
| 17 | g.8121752T= | CA2246160236 | HES7 | c.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= | |
| 17 | g.8121753G>A | CA397987791 | HES7 | c.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 |
| 17 | g.8121753G>C | CA397987793 | HES7 | c.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 | |
| 17 | g.8121753G= | CA2246160240 | HES7 | c.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= | |
| 17 | g.8121753G>T | CA287537129 | HES7 | c.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 |
| 17 | g.8121754del | CA2635937240 | HES7 | c.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 |
| 17 | g.8121754G>A | CA497955128 | HES7 | c.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 |
| 17 | g.8121754G>C | CA397987796 | HES7 | c.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 |
| 17 | g.8121754G= | CA2246160245 | HES7 | c.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= | |
| 17 | g.8121754G>T | CA397987799 | HES7 | c.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 |
| 17 | g.8121755T>A | CA397987804 | HES7 | c.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 |
| 17 | g.8121755T>C | CA397987805 | HES7 | c.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 |
| 17 | g.8121755T>G | CA397987807 | HES7 | c.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 |
| 17 | g.8121756G>A | CA397987809 | HES7 | c.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 |
| 17 | g.8121756G>C | CA397987811 | HES7 | c.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 | |
| 17 | g.8121756G>T | CA397987814 | HES7 | c.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 |
| 17 | g.8121757C>A | CA497955132 | HES7 | c.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 |
| 17 | g.8121757C>G | CA497955134 | HES7 | c.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 | |
| 17 | g.8121757C>T | CA497955135 | HES7 | c.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 |
| 17 | g.8121758A>C | CA397987817 | HES7 | c.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 | |
| 17 | g.8121758A>G | CA397987819 | HES7 | c.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 |
| 17 | g.8121758A>T | CA397987822 | HES7 | c.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 | |
| 17 | g.8121759C>A | CA397987828 | HES7 | c.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 |
| 17 | g.8121759C>G | CA397987831 | HES7 | c.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 |
| 17 | g.8121759C>T | CA397987826 | HES7 | c.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 |
| 17 | g.8121759_8121761delinsCTG | CA2246160251 | HES7 | c.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 | |
| 17 | g.8121760T>A | CA497955138 | HES7 | c.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 | |
| 17 | g.8121760T>C | CA497955140 | HES7 | c.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 |
| 17 | g.8121760T>G | CA497955142 | HES7 | c.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 |
| 17 | g.8121760T= | CA2246160255 | HES7 | c.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= | |
| 17 | g.8121760dup | CA2635937249 | HES7 | c.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 |
| 17 | g.8121760_8121761del | CA2246160254 | HES7 | c.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 |
| 17 | g.8121760_8121774del | CA2808397535 | HES7 | c.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 | |
| 17 | g.8121761G>A | CA397987837 | HES7 | c.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 |
| 17 | g.8121761G>C | CA397987836 | HES7 | c.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 | |
| 17 | g.8121761G= | CA2246160263 | HES7 | c.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= | |
| 17 | g.8121761G>T | CA397987840 | HES7 | c.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 |
| 17 | g.8121766dup | CA624868561 | HES7 | c.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 |
| 17 | g.8121766del | CA624868562 | HES7 | c.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 |
| 17 | g.8121762G>A | CA397987844 | HES7 | c.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 |
| 17 | g.8121762G>C | CA8368620 | HES7 | c.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 |
| 17 | g.8121762G= | CA2246160265 | HES7 | c.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= | |
| 17 | g.8121762G>T | CA397987849 | HES7 | c.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 |
| 17 | g.8121763G>A | CA497955144 | HES7 | c.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 |
| 17 | g.8121763G>C | CA497955145 | HES7 | c.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 |
| 17 | g.8121763G= | CA2246160268 | HES7 | c.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= | |
| 17 | g.8121763G>T | CA497955146 | HES7 | c.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 |
| 17 | g.8121764G>A | CA397987852 | HES7 | c.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 |
| 17 | g.8121764G>C | CA397987853 | HES7 | c.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 |
| 17 | g.8121764G= | CA2246160269 | HES7 | c.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= | |
| 17 | g.8121764G>T | CA397987856 | HES7 | c.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 |
| 17 | g.8121765G>A | CA397987859 | HES7 | c.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 |
| 17 | g.8121765G>C | CA397987860 | HES7 | c.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 |
| 17 | g.8121765G= | CA2246160272 | HES7 | c.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= | |
| 17 | g.8121765G>T | CA397987861 | HES7 | c.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 |
| 17 | g.8121766G>A | CA497955150 | HES7 | c.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 |
| 17 | g.8121766G>C | CA497955149 | HES7 | c.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 |
| 17 | g.8121766G= | CA2246160277 | HES7 | c.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= | |
| 17 | g.8121766G>T | CA497955148 | HES7 | c.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 |
| 17 | g.8121767C>A | CA397987862 | HES7 | c.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 |
| 17 | g.8121767C= | CA2246160281 | HES7 | c.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= | |
| 17 | g.8121767C>G | CA397987863 | HES7 | c.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 | |
| 17 | g.8121767C>T | CA397987866 | HES7 | c.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 |
| 17 | g.8121768G>A | CA397987876 | HES7 | c.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 |
| 17 | g.8121768G>C | CA397987869 | HES7 | c.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 |
| 17 | g.8121768G= | CA2246160284 | HES7 | c.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= | |
| 17 | g.8121768G>T | CA397987872 | HES7 | c.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 |
| 17 | g.8121769C>A | CA397987878 | HES7 | c.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 |
| 17 | g.8121769C>G | CA397987883 | HES7 | c.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 | |
| 17 | g.8121769C>T | CA497955155 | HES7 | c.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 |
| 17 | g.8121770T>A | CA397987884 | HES7 | c.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 |
| 17 | g.8121770T>C | CA397987887 | HES7 | c.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 |
| 17 | g.8121770T>G | CA397987892 | HES7 | c.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 | |
| 17 | g.8121771G>A | CA397987897 | HES7 | c.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 |
| 17 | g.8121771G>C | CA397987898 | HES7 | c.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 | |
| 17 | g.8121771G= | CA2246160287 | HES7 | c.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= | |
| 17 | g.8121771G>T | CA397987900 | HES7 | c.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 |
| 17 | g.8121772del | CA2635937272 | HES7 | c.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 |
| 17 | g.8121772G>A | CA8368621 | HES7 | c.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 |
| 17 | g.8121772G>C | CA397987905 | HES7 | c.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 |
| 17 | g.8121772G= | CA2246160292 | HES7 | c.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= | |
| 17 | g.8121772G>T | CA397987908 | HES7 | c.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 |
| 17 | g.8121781_8121888del | CA2635937286 | HES7 | c.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 |
| 17 | g.8121773T>A | CA397987912 | HES7 | c.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 | |
| 17 | g.8121773T>C | CA397987914 | HES7 | c.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 |
| 17 | g.8121773T>G | CA397987910 | HES7 | c.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 | |
| 17 | g.8121773T= | CA2246160303 | HES7 | c.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= | |
| 17 | g.8121774G>A | CA397987918 | HES7 | c.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 |
| 17 | g.8121774G>C | CA397987919 | HES7 | c.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 | |
| 17 | g.8121774G= | CA2246160306 | HES7 | c.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= | |
| 17 | g.8121774G>T | CA397987922 | HES7 | c.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 |
| 17 | g.8121775C>A | CA497955161 | HES7 | c.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 |
| 17 | g.8121775C>G | CA497955162 | HES7 | c.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 | |
| 17 | g.8121775C>T | CA497955164 | HES7 | c.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 |
| 17 | g.8121776A>C | CA397987925 | HES7 | c.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 | |
| 17 | g.8121776A>G | CA397987926 | HES7 | c.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 |
| 17 | g.8121776A>T | CA397987929 | HES7 | c.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 | |
| 17 | g.8121777G>A | CA497955169 | HES7 | c.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 |
| 17 | g.8121777G>C | CA397987932 | HES7 | c.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 |
| 17 | g.8121777G= | CA2246160309 | HES7 | c.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= | |
| 17 | g.8121777G>T | CA397987931 | HES7 | c.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 |
| 17 | g.8121778C>A | CA497955171 | HES7 | c.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 |
| 17 | g.8121778C>G | CA497955172 | HES7 | c.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 | |
| 17 | g.8121778C>T | CA497955173 | HES7 | c.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 |
| 17 | g.8121779G>A | CA397987933 | HES7 | c.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 |
| 17 | g.8121779G>C | CA397987934 | HES7 | c.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 |
| 17 | g.8121779G>T | CA397987935 | HES7 | c.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 |
| 17 | g.8121780C>A | CA397987936 | HES7 | c.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 |
| 17 | g.8121780C>G | CA397987938 | HES7 | c.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 | |
| 17 | g.8121780C>T | CA397987940 | HES7 | c.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 |
| 17 | g.8121781A>C | CA497955181 | HES7 | c.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 | |
| 17 | g.8121781A>G | CA497955179 | HES7 | c.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 |
| 17 | g.8121781A>T | CA497955178 | HES7 | c.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 | |
| 17 | g.8121782G>A | CA397987941 | HES7 | c.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 |
| 17 | g.8121782G>C | CA397987946 | HES7 | c.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 |
| 17 | g.8121782G= | CA2246160313 | HES7 | c.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= | |
| 17 | g.8121782G>T | CA397987943 | HES7 | c.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 |
| 17 | g.8121784del | CA2635937334 | HES7 | c.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 |
| 17 | g.8121783G>A | CA397987948 | HES7 | c.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 |
| 17 | g.8121783G>C | CA397987951 | HES7 | c.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 | |
| 17 | g.8121783G>T | CA397987953 | HES7 | c.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 |
| 17 | g.8121784G>A | CA497955187 | HES7 | c.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 |
| 17 | g.8121784G>C | CA497955188 | HES7 | c.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 |
| 17 | g.8121784G= | CA2246160314 | HES7 | c.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= | |
| 17 | g.8121784G>T | CA497955190 | HES7 | c.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 |
| 17 | g.8121785C>A | CA397987957 | HES7 | c.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 |
| 17 | g.8121785C>G | CA397987960 | HES7 | c.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 | |
| 17 | g.8121785C>T | CA397987963 | HES7 | c.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 |
| 17 | g.8121786C>A | CA397987966 | HES7 | c.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 |
| 17 | g.8121786C= | CA2246160318 | HES7 | c.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= | |
| 17 | g.8121786C>G | CA397987968 | HES7 | c.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 | |
| 17 | g.8121786C>T | CA397987971 | HES7 | c.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 |
| 17 | g.8121787A>C | CA497955195 | HES7 | c.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 | |
| 17 | g.8121787A>G | CA497955196 | HES7 | c.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 |
| 17 | g.8121787A>T | CA497955197 | HES7 | c.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 | |
| 17 | g.8121788A>C | CA397987972 | HES7 | c.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 | |
| 17 | g.8121788A>G | CA397987978 | HES7 | c.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 |
| 17 | g.8121788A>T | CA397987983 | HES7 | c.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 |
| 17 | g.8121789G>A | CA397987993 | HES7 | c.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 |
| 17 | g.8121789G>C | CA397987991 | HES7 | c.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 |
| 17 | g.8121789G>T | CA397987988 | HES7 | c.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 |