| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.8117792_8126946del | CA2573154518 | ClinVar | ||
| 17 | g.8121604_8121657del | CA2635936652 | HES7 | c.615_668del (p.Pro206_Pro223del) c.600_653del (p.Pro201_Pro218del) c.720_773del (p.Pro241_Pro258del) c.711_764del (p.Pro238_Pro255del) c.702_755del (p.Pro235_Pro252del) c.573_626del (p.Pro192_Pro209del) n.69+1790_69+1843del | gnomAD v4 |
| 17 | g.8121649_8121657dup | CA2576161669 | HES7 | c.615_623dup (p.Pro208_His209insProProPro) c.600_608dup (p.Pro203_His204insProProPro) c.720_728dup (p.Pro243_His244insProProPro) c.711_719dup (p.Pro240_His241insProProPro) c.702_710dup (p.Pro237_His238insProProPro) c.573_581dup (p.Pro194_His195insProProPro) n.69+1835_69+1843dup | |
| 17 | g.8121656_8121658dup | CA775623170 | HES7 | c.612_614dup (p.Pro205_Pro206insPro) c.597_599dup (p.Pro200_Pro201insPro) c.717_719dup (p.Pro240_Pro241insPro) c.708_710dup (p.Pro237_Pro238insPro) c.699_701dup (p.Pro234_Pro235insPro) c.570_572dup (p.Pro191_Pro192insPro) n.69+1842_69+1844dup | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121653_8121658dup | CA775623174 | HES7 | c.609_614dup (p.Pro205_Pro206insProPro) c.594_599dup (p.Pro200_Pro201insProPro) c.714_719dup (p.Pro240_Pro241insProPro) c.705_710dup (p.Pro237_Pro238insProPro) c.696_701dup (p.Pro234_Pro235insProPro) c.567_572dup (p.Pro191_Pro192insProPro) n.69+1839_69+1844dup | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121656_8121658del | CA2635936919 | HES7 | c.612_614del (p.Pro205del) c.597_599del (p.Pro200del) c.717_719del (p.Pro240del) c.708_710del (p.Pro237del) c.699_701del (p.Pro234del) c.570_572del (p.Pro191del) n.69+1842_69+1844del | gnomAD v4 |
| 17 | g.8121654_8121677dup | CA2635936918 | HES7 | c.591_614dup (p.Pro205_Pro206insLeuThrGlyLeuLeuProProPro) c.576_599dup (p.Pro200_Pro201insLeuThrGlyLeuLeuProProPro) c.696_719dup (p.Pro240_Pro241insLeuThrGlyLeuLeuProProPro) c.687_710dup (p.Pro237_Pro238insLeuThrGlyLeuLeuProProPro) c.678_701dup (p.Pro234_Pro235insLeuThrGlyLeuLeuProProPro) c.549_572dup (p.Pro191_Pro192insLeuThrGlyLeuLeuProProPro) n.69+1840_69+1863dup | gnomAD v4 |
| 17 | g.8121651_8121678delinsGCGGCGGCAGCAGTCCGGTGAGGGGCGC | CA2246159948 | HES7 | c.586_613delinsGCGCCCCTCACCGGACTGCTGCCGCCGC (p.Ala196=) c.571_598delinsGCGCCCCTCACCGGACTGCTGCCGCCGC (p.Ala191=) c.691_718delinsGCGCCCCTCACCGGACTGCTGCCGCCGC (p.Ala231=) c.682_709delinsGCGCCCCTCACCGGACTGCTGCCGCCGC (p.Ala228=) c.673_700delinsGCGCCCCTCACCGGACTGCTGCCGCCGC (p.Ala225=) c.544_571delinsGCGCCCCTCACCGGACTGCTGCCGCCGC (p.Ala182=) n.69+1837_69+1864delinsGCGGCGGCAGCAGTCCGGTGAGGGGCGC | |
| 17 | g.8121657_8121683del | CA775623182 | HES7 | c.586_612del (p.Ala196_Pro204del) c.571_597del (p.Ala191_Pro199del) c.691_717del (p.Ala231_Pro239del) c.682_708del (p.Ala228_Pro236del) c.673_699del (p.Ala225_Pro233del) c.544_570del (p.Ala182_Pro190del) n.69+1843_69+1869del | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121656_8121661dup | CA2246159962 | HES7 | c.605_610dup (p.Pro203_Pro204insLeuPro) c.590_595dup (p.Pro198_Pro199insLeuPro) c.710_715dup (p.Pro238_Pro239insLeuPro) c.701_706dup (p.Pro235_Pro236insLeuPro) c.692_697dup (p.Pro232_Pro233insLeuPro) c.563_568dup (p.Pro189_Pro190insLeuPro) n.69+1842_69+1847dup | dbSNP |
| 17 | g.8121655C>A | CA497760836 | HES7 | c.609G>T (p.Pro203=) c.594G>T (p.Pro198=) c.714G>T (p.Pro238=) c.705G>T (p.Pro235=) c.696G>T (p.Pro232=) c.567G>T (p.Pro189=) n.69+1841C>A | gnomAD v4 |
| 17 | g.8121655C= | CA2246159966 | HES7 | c.609G= (p.Pro203=) c.594G= (p.Pro198=) c.714G= (p.Pro238=) c.705G= (p.Pro235=) c.696G= (p.Pro232=) c.567G= (p.Pro189=) n.69+1841C= | |
| 17 | g.8121655C>G | CA497760837 | HES7 | c.609G>C (p.Pro203=) c.594G>C (p.Pro198=) c.714G>C (p.Pro238=) c.705G>C (p.Pro235=) c.696G>C (p.Pro232=) c.567G>C (p.Pro189=) n.69+1841C>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121655C>T | CA497760838 | HES7 | c.609G>A (p.Pro203=) c.594G>A (p.Pro198=) c.714G>A (p.Pro238=) c.705G>A (p.Pro235=) c.696G>A (p.Pro232=) c.567G>A (p.Pro189=) n.69+1841C>T | dbSNP gnomAD v4 |
| 17 | g.8121656G>A | CA397987246 | HES7 | c.608C>T (p.Pro203Leu) c.593C>T (p.Pro198Leu) c.713C>T (p.Pro238Leu) c.704C>T (p.Pro235Leu) c.695C>T (p.Pro232Leu) c.566C>T (p.Pro189Leu) n.69+1842G>A | dbSNP gnomAD v4 |
| 17 | g.8121656G>C | CA397987248 | HES7 | c.608C>G (p.Pro203Arg) c.593C>G (p.Pro198Arg) c.713C>G (p.Pro238Arg) c.704C>G (p.Pro235Arg) c.695C>G (p.Pro232Arg) c.566C>G (p.Pro189Arg) n.69+1842G>C | |
| 17 | g.8121656G= | CA2246159970 | HES7 | c.608C= (p.Pro203=) c.593C= (p.Pro198=) c.713C= (p.Pro238=) c.704C= (p.Pro235=) c.695C= (p.Pro232=) c.566C= (p.Pro189=) n.69+1842G= | |
| 17 | g.8121656G>T | CA397987249 | HES7 | c.608C>A (p.Pro203Gln) c.593C>A (p.Pro198Gln) c.713C>A (p.Pro238Gln) c.704C>A (p.Pro235Gln) c.695C>A (p.Pro232Gln) c.566C>A (p.Pro189Gln) n.69+1842G>T | dbSNP gnomAD v4 |
| 17 | g.8121656_8121659delinsGGCA | CA2246159968 | HES7 | c.605_608delinsTGCC (p.Leu202=) c.590_593delinsTGCC (p.Leu197=) c.710_713delinsTGCC (p.Leu237=) c.701_704delinsTGCC (p.Leu234=) c.692_695delinsTGCC (p.Leu231=) c.563_566delinsTGCC (p.Leu188=) n.69+1842_69+1845delinsGGCA | |
| 17 | g.8121657G>A | CA397987258 | HES7 | c.607C>T (p.Pro203Ser) c.592C>T (p.Pro198Ser) c.712C>T (p.Pro238Ser) c.703C>T (p.Pro235Ser) c.694C>T (p.Pro232Ser) c.565C>T (p.Pro189Ser) n.69+1843G>A | gnomAD v4 |
| 17 | g.8121657G>C | CA397987253 | HES7 | c.607C>G (p.Pro203Ala) c.592C>G (p.Pro198Ala) c.712C>G (p.Pro238Ala) c.703C>G (p.Pro235Ala) c.694C>G (p.Pro232Ala) c.565C>G (p.Pro189Ala) n.69+1843G>C | |
| 17 | g.8121657G>T | CA397987255 | HES7 | c.607C>A (p.Pro203Thr) c.592C>A (p.Pro198Thr) c.712C>A (p.Pro238Thr) c.703C>A (p.Pro235Thr) c.694C>A (p.Pro232Thr) c.565C>A (p.Pro189Thr) n.69+1843G>T | gnomAD v4 |
| 17 | g.8121661_8121663dup | CA775623195 | HES7 | c.605_607dup (p.Leu202_Pro203insLeu) c.590_592dup (p.Leu197_Pro198insLeu) c.710_712dup (p.Leu237_Pro238insLeu) c.701_703dup (p.Leu234_Pro235insLeu) c.692_694dup (p.Leu231_Pro232insLeu) c.563_565dup (p.Leu188_Pro189insLeu) n.69+1847_69+1849dup | ClinVar dbSNP |
| 17 | g.8121661_8121663del | CA913014253 | HES7 | c.605_607del (p.Leu202del) c.590_592del (p.Leu197del) c.710_712del (p.Leu237del) c.701_703del (p.Leu234del) c.692_694del (p.Leu231del) c.563_565del (p.Leu188del) n.69+1847_69+1849del | dbSNP |
| 17 | g.8121658C>A | CA497760841 | HES7 | c.606G>T (p.Leu202=) c.591G>T (p.Leu197=) c.711G>T (p.Leu237=) c.702G>T (p.Leu234=) c.693G>T (p.Leu231=) c.564G>T (p.Leu188=) n.69+1844C>A | dbSNP gnomAD v4 |
| 17 | g.8121658C= | CA2246159979 | HES7 | c.606G= (p.Leu202=) c.591G= (p.Leu197=) c.711G= (p.Leu237=) c.702G= (p.Leu234=) c.693G= (p.Leu231=) c.564G= (p.Leu188=) n.69+1844C= | |
| 17 | g.8121658C>G | CA497760839 | HES7 | c.606G>C (p.Leu202=) c.591G>C (p.Leu197=) c.711G>C (p.Leu237=) c.702G>C (p.Leu234=) c.693G>C (p.Leu231=) c.564G>C (p.Leu188=) n.69+1844C>G | dbSNP gnomAD v4 |
| 17 | g.8121658C>T | CA497760840 | HES7 | c.606G>A (p.Leu202=) c.591G>A (p.Leu197=) c.711G>A (p.Leu237=) c.702G>A (p.Leu234=) c.693G>A (p.Leu231=) c.564G>A (p.Leu188=) n.69+1844C>T | gnomAD v4 |
| 17 | g.8121659A>C | CA397987260 | HES7 | c.605T>G (p.Leu202Arg) c.590T>G (p.Leu197Arg) c.710T>G (p.Leu237Arg) c.701T>G (p.Leu234Arg) c.692T>G (p.Leu231Arg) c.563T>G (p.Leu188Arg) n.69+1845A>C | |
| 17 | g.8121659A>G | CA397987262 | HES7 | c.605T>C (p.Leu202Pro) c.590T>C (p.Leu197Pro) c.710T>C (p.Leu237Pro) c.701T>C (p.Leu234Pro) c.692T>C (p.Leu231Pro) c.563T>C (p.Leu188Pro) n.69+1845A>G | ClinVar gnomAD v4 |
| 17 | g.8121659A>T | CA397987264 | HES7 | c.605T>A (p.Leu202Gln) c.590T>A (p.Leu197Gln) c.710T>A (p.Leu237Gln) c.701T>A (p.Leu234Gln) c.692T>A (p.Leu231Gln) c.563T>A (p.Leu188Gln) n.69+1845A>T | |
| 17 | g.8121660G>A | CA497760842 | HES7 | c.604C>T (p.Leu202=) c.589C>T (p.Leu197=) c.709C>T (p.Leu237=) c.700C>T (p.Leu234=) c.691C>T (p.Leu231=) c.562C>T (p.Leu188=) n.69+1846G>A | gnomAD v4 |
| 17 | g.8121660G>C | CA397987267 | HES7 | c.604C>G (p.Leu202Val) c.589C>G (p.Leu197Val) c.709C>G (p.Leu237Val) c.700C>G (p.Leu234Val) c.691C>G (p.Leu231Val) c.562C>G (p.Leu188Val) n.69+1846G>C | |
| 17 | g.8121660G>T | CA397987270 | HES7 | c.604C>A (p.Leu202Met) c.589C>A (p.Leu197Met) c.709C>A (p.Leu237Met) c.700C>A (p.Leu234Met) c.691C>A (p.Leu231Met) c.562C>A (p.Leu188Met) n.69+1846G>T | gnomAD v4 |
| 17 | g.8121661C>A | CA497760843 | HES7 | c.603G>T (p.Leu201=) c.588G>T (p.Leu196=) c.708G>T (p.Leu236=) c.699G>T (p.Leu233=) c.690G>T (p.Leu230=) c.561G>T (p.Leu187=) n.69+1847C>A | gnomAD v4 |
| 17 | g.8121661C>G | CA497760844 | HES7 | c.603G>C (p.Leu201=) c.588G>C (p.Leu196=) c.708G>C (p.Leu236=) c.699G>C (p.Leu233=) c.690G>C (p.Leu230=) c.561G>C (p.Leu187=) n.69+1847C>G | |
| 17 | g.8121661C>T | CA497760845 | HES7 | c.603G>A (p.Leu201=) c.588G>A (p.Leu196=) c.708G>A (p.Leu236=) c.699G>A (p.Leu233=) c.690G>A (p.Leu230=) c.561G>A (p.Leu187=) n.69+1847C>T | gnomAD v4 |
| 17 | g.8121662A>C | CA397987273 | HES7 | c.602T>G (p.Leu201Arg) c.587T>G (p.Leu196Arg) c.707T>G (p.Leu236Arg) c.698T>G (p.Leu233Arg) c.689T>G (p.Leu230Arg) c.560T>G (p.Leu187Arg) n.69+1848A>C | |
| 17 | g.8121662A>G | CA397987275 | HES7 | c.602T>C (p.Leu201Pro) c.587T>C (p.Leu196Pro) c.707T>C (p.Leu236Pro) c.698T>C (p.Leu233Pro) c.689T>C (p.Leu230Pro) c.560T>C (p.Leu187Pro) n.69+1848A>G | |
| 17 | g.8121662A>T | CA397987278 | HES7 | c.602T>A (p.Leu201Gln) c.587T>A (p.Leu196Gln) c.707T>A (p.Leu236Gln) c.698T>A (p.Leu233Gln) c.689T>A (p.Leu230Gln) c.560T>A (p.Leu187Gln) n.69+1848A>T | |
| 17 | g.8121663G>A | CA497760846 | HES7 | c.601C>T (p.Leu201=) c.586C>T (p.Leu196=) c.706C>T (p.Leu236=) c.697C>T (p.Leu233=) c.688C>T (p.Leu230=) c.559C>T (p.Leu187=) n.69+1849G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121663G>C | CA397987281 | HES7 | c.601C>G (p.Leu201Val) c.586C>G (p.Leu196Val) c.706C>G (p.Leu236Val) c.697C>G (p.Leu233Val) c.688C>G (p.Leu230Val) c.559C>G (p.Leu187Val) n.69+1849G>C | |
| 17 | g.8121663G= | CA2246159987 | HES7 | c.601C= (p.Leu201=) c.586C= (p.Leu196=) c.706C= (p.Leu236=) c.697C= (p.Leu233=) c.688C= (p.Leu230=) c.559C= (p.Leu187=) n.69+1849G= | |
| 17 | g.8121663G>T | CA397987283 | HES7 | c.601C>A (p.Leu201Met) c.586C>A (p.Leu196Met) c.706C>A (p.Leu236Met) c.697C>A (p.Leu233Met) c.688C>A (p.Leu230Met) c.559C>A (p.Leu187Met) n.69+1849G>T | gnomAD v4 |
| 17 | g.8121664T>A | CA497760847 | HES7 | c.600A>T (p.Gly200=) c.585A>T (p.Gly195=) c.705A>T (p.Gly235=) c.696A>T (p.Gly232=) c.687A>T (p.Gly229=) c.558A>T (p.Gly186=) n.69+1850T>A | |
| 17 | g.8121664T>C | CA497760848 | HES7 | c.600A>G (p.Gly200=) c.585A>G (p.Gly195=) c.705A>G (p.Gly235=) c.696A>G (p.Gly232=) c.687A>G (p.Gly229=) c.558A>G (p.Gly186=) n.69+1850T>C | gnomAD v4 |
| 17 | g.8121664T>G | CA497760849 | HES7 | c.600A>C (p.Gly200=) c.585A>C (p.Gly195=) c.705A>C (p.Gly235=) c.696A>C (p.Gly232=) c.687A>C (p.Gly229=) c.558A>C (p.Gly186=) n.69+1850T>G | dbSNP |
| 17 | g.8121664T= | CA2246159989 | HES7 | c.600A= (p.Gly200=) c.585A= (p.Gly195=) c.705A= (p.Gly235=) c.696A= (p.Gly232=) c.687A= (p.Gly229=) c.558A= (p.Gly186=) n.69+1850T= | |
| 17 | g.8121665C>A | CA397987288 | HES7 | c.599G>T (p.Gly200Val) c.584G>T (p.Gly195Val) c.704G>T (p.Gly235Val) c.695G>T (p.Gly232Val) c.686G>T (p.Gly229Val) c.557G>T (p.Gly186Val) n.69+1851C>A | gnomAD v4 |
| 17 | g.8121665C>G | CA397987290 | HES7 | c.599G>C (p.Gly200Ala) c.584G>C (p.Gly195Ala) c.704G>C (p.Gly235Ala) c.695G>C (p.Gly232Ala) c.686G>C (p.Gly229Ala) c.557G>C (p.Gly186Ala) n.69+1851C>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121665C>T | CA397987292 | HES7 | c.599G>A (p.Gly200Glu) c.584G>A (p.Gly195Glu) c.704G>A (p.Gly235Glu) c.695G>A (p.Gly232Glu) c.686G>A (p.Gly229Glu) c.557G>A (p.Gly186Glu) n.69+1851C>T | gnomAD v4 |
| 17 | g.8121666C>A | CA397987297 | HES7 | c.598G>T (p.Gly200Ter) c.583G>T (p.Gly195Ter) c.703G>T (p.Gly235Ter) c.694G>T (p.Gly232Ter) c.685G>T (p.Gly229Ter) c.556G>T (p.Gly186Ter) n.69+1852C>A | gnomAD v4 |
| 17 | g.8121666C>G | CA397987296 | HES7 | c.598G>C (p.Gly200Arg) c.583G>C (p.Gly195Arg) c.703G>C (p.Gly235Arg) c.694G>C (p.Gly232Arg) c.685G>C (p.Gly229Arg) c.556G>C (p.Gly186Arg) n.69+1852C>G | |
| 17 | g.8121666C>T | CA397987295 | HES7 | c.598G>A (p.Gly200Arg) c.583G>A (p.Gly195Arg) c.703G>A (p.Gly235Arg) c.694G>A (p.Gly232Arg) c.685G>A (p.Gly229Arg) c.556G>A (p.Gly186Arg) n.69+1852C>T | gnomAD v4 |
| 17 | g.8121667G>A | CA497760850 | HES7 | c.597C>T (p.Thr199=) c.582C>T (p.Thr194=) c.702C>T (p.Thr234=) c.693C>T (p.Thr231=) c.684C>T (p.Thr228=) c.555C>T (p.Thr185=) n.69+1853G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121667G>C | CA497760851 | HES7 | c.597C>G (p.Thr199=) c.582C>G (p.Thr194=) c.702C>G (p.Thr234=) c.693C>G (p.Thr231=) c.684C>G (p.Thr228=) c.555C>G (p.Thr185=) n.69+1853G>C | |
| 17 | g.8121667G= | CA2246159991 | HES7 | c.597C= (p.Thr199=) c.582C= (p.Thr194=) c.702C= (p.Thr234=) c.693C= (p.Thr231=) c.684C= (p.Thr228=) c.555C= (p.Thr185=) n.69+1853G= | |
| 17 | g.8121667G>T | CA497760852 | HES7 | c.597C>A (p.Thr199=) c.582C>A (p.Thr194=) c.702C>A (p.Thr234=) c.693C>A (p.Thr231=) c.684C>A (p.Thr228=) c.555C>A (p.Thr185=) n.69+1853G>T | gnomAD v4 |
| 17 | g.8121668G>A | CA397987298 | HES7 | c.596C>T (p.Thr199Ile) c.581C>T (p.Thr194Ile) c.701C>T (p.Thr234Ile) c.692C>T (p.Thr231Ile) c.683C>T (p.Thr228Ile) c.554C>T (p.Thr185Ile) n.69+1854G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121668G>C | CA397987299 | HES7 | c.596C>G (p.Thr199Ser) c.581C>G (p.Thr194Ser) c.701C>G (p.Thr234Ser) c.692C>G (p.Thr231Ser) c.683C>G (p.Thr228Ser) c.554C>G (p.Thr185Ser) n.69+1854G>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121668G= | CA2246159993 | HES7 | c.596C= (p.Thr199=) c.581C= (p.Thr194=) c.701C= (p.Thr234=) c.692C= (p.Thr231=) c.683C= (p.Thr228=) c.554C= (p.Thr185=) n.69+1854G= | |
| 17 | g.8121668G>T | CA397987300 | HES7 | c.596C>A (p.Thr199Asn) c.581C>A (p.Thr194Asn) c.701C>A (p.Thr234Asn) c.692C>A (p.Thr231Asn) c.683C>A (p.Thr228Asn) c.554C>A (p.Thr185Asn) n.69+1854G>T | gnomAD v4 |
| 17 | g.8121669T>A | CA397987302 | HES7 | c.595A>T (p.Thr199Ser) c.580A>T (p.Thr194Ser) c.700A>T (p.Thr234Ser) c.691A>T (p.Thr231Ser) c.682A>T (p.Thr228Ser) c.553A>T (p.Thr185Ser) n.69+1855T>A | gnomAD v4 |
| 17 | g.8121669T>C | CA397987303 | HES7 | c.595A>G (p.Thr199Ala) c.580A>G (p.Thr194Ala) c.700A>G (p.Thr234Ala) c.691A>G (p.Thr231Ala) c.682A>G (p.Thr228Ala) c.553A>G (p.Thr185Ala) n.69+1855T>C | gnomAD v4 |
| 17 | g.8121669T>G | CA397987305 | HES7 | c.595A>C (p.Thr199Pro) c.580A>C (p.Thr194Pro) c.700A>C (p.Thr234Pro) c.691A>C (p.Thr231Pro) c.682A>C (p.Thr228Pro) c.553A>C (p.Thr185Pro) n.69+1855T>G | |
| 17 | g.8121670G>A | CA497760853 | HES7 | c.594C>T (p.Leu198=) c.579C>T (p.Leu193=) c.699C>T (p.Leu233=) c.690C>T (p.Leu230=) c.681C>T (p.Leu227=) c.552C>T (p.Leu184=) n.69+1856G>A | gnomAD v4 |
| 17 | g.8121670G>C | CA497760854 | HES7 | c.594C>G (p.Leu198=) c.579C>G (p.Leu193=) c.699C>G (p.Leu233=) c.690C>G (p.Leu230=) c.681C>G (p.Leu227=) c.552C>G (p.Leu184=) n.69+1856G>C | |
| 17 | g.8121670G>T | CA497760855 | HES7 | c.594C>A (p.Leu198=) c.579C>A (p.Leu193=) c.699C>A (p.Leu233=) c.690C>A (p.Leu230=) c.681C>A (p.Leu227=) c.552C>A (p.Leu184=) n.69+1856G>T | gnomAD v4 |
| 17 | g.8121671A= | CA2246159996 | HES7 | c.593T= (p.Leu198=) c.578T= (p.Leu193=) c.698T= (p.Leu233=) c.689T= (p.Leu230=) c.680T= (p.Leu227=) c.551T= (p.Leu184=) n.69+1857A= | |
| 17 | g.8121671A>C | CA397987308 | HES7 | c.593T>G (p.Leu198Arg) c.578T>G (p.Leu193Arg) c.698T>G (p.Leu233Arg) c.689T>G (p.Leu230Arg) c.680T>G (p.Leu227Arg) c.551T>G (p.Leu184Arg) n.69+1857A>C | gnomAD v4 |
| 17 | g.8121671A>G | CA397987312 | HES7 | c.593T>C (p.Leu198Pro) c.578T>C (p.Leu193Pro) c.698T>C (p.Leu233Pro) c.689T>C (p.Leu230Pro) c.680T>C (p.Leu227Pro) c.551T>C (p.Leu184Pro) n.69+1857A>G | gnomAD v4 |
| 17 | g.8121671A>T | CA397987314 | HES7 | c.593T>A (p.Leu198His) c.578T>A (p.Leu193His) c.698T>A (p.Leu233His) c.689T>A (p.Leu230His) c.680T>A (p.Leu227His) c.551T>A (p.Leu184His) n.69+1857A>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121672G>A | CA397987317 | HES7 | c.592C>T (p.Leu198Phe) c.577C>T (p.Leu193Phe) c.697C>T (p.Leu233Phe) c.688C>T (p.Leu230Phe) c.679C>T (p.Leu227Phe) c.550C>T (p.Leu184Phe) n.69+1858G>A | gnomAD v4 |
| 17 | g.8121672G>C | CA397987318 | HES7 | c.592C>G (p.Leu198Val) c.577C>G (p.Leu193Val) c.697C>G (p.Leu233Val) c.688C>G (p.Leu230Val) c.679C>G (p.Leu227Val) c.550C>G (p.Leu184Val) n.69+1858G>C | |
| 17 | g.8121672G>T | CA397987322 | HES7 | c.592C>A (p.Leu198Ile) c.577C>A (p.Leu193Ile) c.697C>A (p.Leu233Ile) c.688C>A (p.Leu230Ile) c.679C>A (p.Leu227Ile) c.550C>A (p.Leu184Ile) n.69+1858G>T | gnomAD v4 |
| 17 | g.8121673G>A | CA8368614 | HES7 | c.591C>T (p.Pro197=) c.576C>T (p.Pro192=) c.696C>T (p.Pro232=) c.687C>T (p.Pro229=) c.678C>T (p.Pro226=) c.549C>T (p.Pro183=) n.69+1859G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121673G>C | CA497760856 | HES7 | c.591C>G (p.Pro197=) c.576C>G (p.Pro192=) c.696C>G (p.Pro232=) c.687C>G (p.Pro229=) c.678C>G (p.Pro226=) c.549C>G (p.Pro183=) n.69+1859G>C | gnomAD v4 |
| 17 | g.8121673G= | CA2246160003 | HES7 | c.591C= (p.Pro197=) c.576C= (p.Pro192=) c.696C= (p.Pro232=) c.687C= (p.Pro229=) c.678C= (p.Pro226=) c.549C= (p.Pro183=) n.69+1859G= | |
| 17 | g.8121673G>T | CA497760857 | HES7 | c.591C>A (p.Pro197=) c.576C>A (p.Pro192=) c.696C>A (p.Pro232=) c.687C>A (p.Pro229=) c.678C>A (p.Pro226=) c.549C>A (p.Pro183=) n.69+1859G>T | gnomAD v4 |
| 17 | g.8121674G>A | CA397987330 | HES7 | c.590C>T (p.Pro197Leu) c.575C>T (p.Pro192Leu) c.695C>T (p.Pro232Leu) c.686C>T (p.Pro229Leu) c.677C>T (p.Pro226Leu) c.548C>T (p.Pro183Leu) n.69+1860G>A | gnomAD v4 |
| 17 | g.8121674G>C | CA397987331 | HES7 | c.590C>G (p.Pro197Arg) c.575C>G (p.Pro192Arg) c.695C>G (p.Pro232Arg) c.686C>G (p.Pro229Arg) c.677C>G (p.Pro226Arg) c.548C>G (p.Pro183Arg) n.69+1860G>C | |
| 17 | g.8121674G>T | CA397987327 | HES7 | c.590C>A (p.Pro197His) c.575C>A (p.Pro192His) c.695C>A (p.Pro232His) c.686C>A (p.Pro229His) c.677C>A (p.Pro226His) c.548C>A (p.Pro183His) n.69+1860G>T | gnomAD v4 |
| 17 | g.8121675G>A | CA397987334 | HES7 | c.589C>T (p.Pro197Ser) c.574C>T (p.Pro192Ser) c.694C>T (p.Pro232Ser) c.685C>T (p.Pro229Ser) c.676C>T (p.Pro226Ser) c.547C>T (p.Pro183Ser) n.69+1861G>A | dbSNP gnomAD v4 |
| 17 | g.8121675G>C | CA397987339 | HES7 | c.589C>G (p.Pro197Ala) c.574C>G (p.Pro192Ala) c.694C>G (p.Pro232Ala) c.685C>G (p.Pro229Ala) c.676C>G (p.Pro226Ala) c.547C>G (p.Pro183Ala) n.69+1861G>C | gnomAD v4 |
| 17 | g.8121675G= | CA2246160008 | HES7 | c.589C= (p.Pro197=) c.574C= (p.Pro192=) c.694C= (p.Pro232=) c.685C= (p.Pro229=) c.676C= (p.Pro226=) c.547C= (p.Pro183=) n.69+1861G= | |
| 17 | g.8121675G>T | CA397987336 | HES7 | c.589C>A (p.Pro197Thr) c.574C>A (p.Pro192Thr) c.694C>A (p.Pro232Thr) c.685C>A (p.Pro229Thr) c.676C>A (p.Pro226Thr) c.547C>A (p.Pro183Thr) n.69+1861G>T | gnomAD v4 |
| 17 | g.8121676C>A | CA497760858 | HES7 | c.588G>T (p.Ala196=) c.573G>T (p.Ala191=) c.693G>T (p.Ala231=) c.684G>T (p.Ala228=) c.675G>T (p.Ala225=) c.546G>T (p.Ala182=) n.69+1862C>A | dbSNP gnomAD v4 |
| 17 | g.8121676C= | CA2246160013 | HES7 | c.588G= (p.Ala196=) c.573G= (p.Ala191=) c.693G= (p.Ala231=) c.684G= (p.Ala228=) c.675G= (p.Ala225=) c.546G= (p.Ala182=) n.69+1862C= | |
| 17 | g.8121676C>G | CA497760859 | HES7 | c.588G>C (p.Ala196=) c.573G>C (p.Ala191=) c.693G>C (p.Ala231=) c.684G>C (p.Ala228=) c.675G>C (p.Ala225=) c.546G>C (p.Ala182=) n.69+1862C>G | gnomAD v4 |
| 17 | g.8121676C>T | CA497760860 | HES7 | c.588G>A (p.Ala196=) c.573G>A (p.Ala191=) c.693G>A (p.Ala231=) c.684G>A (p.Ala228=) c.675G>A (p.Ala225=) c.546G>A (p.Ala182=) n.69+1862C>T | gnomAD v4 |
| 17 | g.8121677G>A | CA397987342 | HES7 | c.587C>T (p.Ala196Val) c.572C>T (p.Ala191Val) c.692C>T (p.Ala231Val) c.683C>T (p.Ala228Val) c.674C>T (p.Ala225Val) c.545C>T (p.Ala182Val) n.69+1863G>A | gnomAD v4 |
| 17 | g.8121677G>C | CA287537031 | HES7 | c.587C>G (p.Ala196Gly) c.572C>G (p.Ala191Gly) c.692C>G (p.Ala231Gly) c.683C>G (p.Ala228Gly) c.674C>G (p.Ala225Gly) c.545C>G (p.Ala182Gly) n.69+1863G>C | dbSNP |
| 17 | g.8121677G= | CA2246160020 | HES7 | c.587C= (p.Ala196=) c.572C= (p.Ala191=) c.692C= (p.Ala231=) c.683C= (p.Ala228=) c.674C= (p.Ala225=) c.545C= (p.Ala182=) n.69+1863G= | |
| 17 | g.8121677G>T | CA397987345 | HES7 | c.587C>A (p.Ala196Glu) c.572C>A (p.Ala191Glu) c.692C>A (p.Ala231Glu) c.683C>A (p.Ala228Glu) c.674C>A (p.Ala225Glu) c.545C>A (p.Ala182Glu) n.69+1863G>T | gnomAD v4 |
| 17 | g.8121678C>A | CA397987349 | HES7 | c.586G>T (p.Ala196Ser) c.571G>T (p.Ala191Ser) c.691G>T (p.Ala231Ser) c.682G>T (p.Ala228Ser) c.673G>T (p.Ala225Ser) c.544G>T (p.Ala182Ser) n.69+1864C>A | gnomAD v4 |
| 17 | g.8121678C>G | CA397987350 | HES7 | c.586G>C (p.Ala196Pro) c.571G>C (p.Ala191Pro) c.691G>C (p.Ala231Pro) c.682G>C (p.Ala228Pro) c.673G>C (p.Ala225Pro) c.544G>C (p.Ala182Pro) n.69+1864C>G | |
| 17 | g.8121678C>T | CA397987352 | HES7 | c.586G>A (p.Ala196Thr) c.571G>A (p.Ala191Thr) c.691G>A (p.Ala231Thr) c.682G>A (p.Ala228Thr) c.673G>A (p.Ala225Thr) c.544G>A (p.Ala182Thr) n.69+1864C>T | gnomAD v4 |
| 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.8121679C>A | CA497760861 | HES7 | c.585G>T (p.Pro195=) c.570G>T (p.Pro190=) c.690G>T (p.Pro230=) c.681G>T (p.Pro227=) c.672G>T (p.Pro224=) c.543G>T (p.Pro181=) n.69+1865C>A | gnomAD v4 |
| 17 | g.8121679C= | CA2246160027 | HES7 | c.585G= (p.Pro195=) c.570G= (p.Pro190=) c.690G= (p.Pro230=) c.681G= (p.Pro227=) c.672G= (p.Pro224=) c.543G= (p.Pro181=) n.69+1865C= | |
| 17 | g.8121679C>G | CA497760862 | HES7 | c.585G>C (p.Pro195=) c.570G>C (p.Pro190=) c.690G>C (p.Pro230=) c.681G>C (p.Pro227=) c.672G>C (p.Pro224=) c.543G>C (p.Pro181=) n.69+1865C>G | |
| 17 | g.8121679C>T | CA497760863 | HES7 | c.585G>A (p.Pro195=) c.570G>A (p.Pro190=) c.690G>A (p.Pro230=) c.681G>A (p.Pro227=) c.672G>A (p.Pro224=) c.543G>A (p.Pro181=) n.69+1865C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121680G>A | CA397987356 | HES7 | c.584C>T (p.Pro195Leu) c.569C>T (p.Pro190Leu) c.689C>T (p.Pro230Leu) c.680C>T (p.Pro227Leu) c.671C>T (p.Pro224Leu) c.542C>T (p.Pro181Leu) n.69+1866G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121680G>C | CA397987357 | HES7 | c.584C>G (p.Pro195Arg) c.569C>G (p.Pro190Arg) c.689C>G (p.Pro230Arg) c.680C>G (p.Pro227Arg) c.671C>G (p.Pro224Arg) c.542C>G (p.Pro181Arg) n.69+1866G>C | gnomAD v4 |
| 17 | g.8121680G= | CA2246160031 | HES7 | c.584C= (p.Pro195=) c.569C= (p.Pro190=) c.689C= (p.Pro230=) c.680C= (p.Pro227=) c.671C= (p.Pro224=) c.542C= (p.Pro181=) n.69+1866G= | |
| 17 | g.8121680G>T | CA397987360 | HES7 | c.584C>A (p.Pro195Gln) c.569C>A (p.Pro190Gln) c.689C>A (p.Pro230Gln) c.680C>A (p.Pro227Gln) c.671C>A (p.Pro224Gln) c.542C>A (p.Pro181Gln) n.69+1866G>T | gnomAD v4 |
| 17 | g.8121681G>A | CA397987362 | HES7 | c.583C>T (p.Pro195Ser) c.568C>T (p.Pro190Ser) c.688C>T (p.Pro230Ser) c.679C>T (p.Pro227Ser) c.670C>T (p.Pro224Ser) c.541C>T (p.Pro181Ser) n.69+1867G>A | gnomAD v4 |
| 17 | g.8121681G>C | CA287537043 | HES7 | c.583C>G (p.Pro195Ala) c.568C>G (p.Pro190Ala) c.688C>G (p.Pro230Ala) c.679C>G (p.Pro227Ala) c.670C>G (p.Pro224Ala) c.541C>G (p.Pro181Ala) n.69+1867G>C | ClinVar dbSNP |
| 17 | g.8121681G= | CA2246160040 | HES7 | c.583C= (p.Pro195=) c.568C= (p.Pro190=) c.688C= (p.Pro230=) c.679C= (p.Pro227=) c.670C= (p.Pro224=) c.541C= (p.Pro181=) n.69+1867G= | |
| 17 | g.8121681G>T | CA397987367 | HES7 | c.583C>A (p.Pro195Thr) c.568C>A (p.Pro190Thr) c.688C>A (p.Pro230Thr) c.679C>A (p.Pro227Thr) c.670C>A (p.Pro224Thr) c.541C>A (p.Pro181Thr) n.69+1867G>T | gnomAD v4 |
| 17 | g.8121682C>A | CA497760864 | HES7 | c.582G>T (p.Ala194=) c.567G>T (p.Ala189=) c.687G>T (p.Ala229=) c.678G>T (p.Ala226=) c.669G>T (p.Ala223=) c.540G>T (p.Ala180=) n.69+1868C>A | dbSNP |
| 17 | g.8121682C= | CA2246160047 | HES7 | c.582G= (p.Ala194=) c.567G= (p.Ala189=) c.687G= (p.Ala229=) c.678G= (p.Ala226=) c.669G= (p.Ala223=) c.540G= (p.Ala180=) n.69+1868C= | |
| 17 | g.8121682C>G | CA497760865 | HES7 | c.582G>C (p.Ala194=) c.567G>C (p.Ala189=) c.687G>C (p.Ala229=) c.678G>C (p.Ala226=) c.669G>C (p.Ala223=) c.540G>C (p.Ala180=) n.69+1868C>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121682C>T | CA497760866 | HES7 | c.582G>A (p.Ala194=) c.567G>A (p.Ala189=) c.687G>A (p.Ala229=) c.678G>A (p.Ala226=) c.669G>A (p.Ala223=) c.540G>A (p.Ala180=) n.69+1868C>T | gnomAD v4 |
| 17 | g.8121683G>A | CA397987368 | HES7 | c.581C>T (p.Ala194Val) c.566C>T (p.Ala189Val) c.686C>T (p.Ala229Val) c.677C>T (p.Ala226Val) c.668C>T (p.Ala223Val) c.539C>T (p.Ala180Val) n.69+1869G>A | gnomAD v4 |
| 17 | g.8121683G>C | CA397987371 | HES7 | c.581C>G (p.Ala194Gly) c.566C>G (p.Ala189Gly) c.686C>G (p.Ala229Gly) c.677C>G (p.Ala226Gly) c.668C>G (p.Ala223Gly) c.539C>G (p.Ala180Gly) n.69+1869G>C | |
| 17 | g.8121683G>T | CA397987370 | HES7 | c.581C>A (p.Ala194Glu) c.566C>A (p.Ala189Glu) c.686C>A (p.Ala229Glu) c.677C>A (p.Ala226Glu) c.668C>A (p.Ala223Glu) c.539C>A (p.Ala180Glu) n.69+1869G>T | gnomAD v4 |
| 17 | g.8121684C>A | CA397987376 | HES7 | c.580G>T (p.Ala194Ser) c.565G>T (p.Ala189Ser) c.685G>T (p.Ala229Ser) c.676G>T (p.Ala226Ser) c.667G>T (p.Ala223Ser) c.538G>T (p.Ala180Ser) n.69+1870C>A | gnomAD v4 |
| 17 | g.8121684C>G | CA397987377 | HES7 | c.580G>C (p.Ala194Pro) c.565G>C (p.Ala189Pro) c.685G>C (p.Ala229Pro) c.676G>C (p.Ala226Pro) c.667G>C (p.Ala223Pro) c.538G>C (p.Ala180Pro) n.69+1870C>G | |
| 17 | g.8121684C>T | CA397987379 | HES7 | c.580G>A (p.Ala194Thr) c.565G>A (p.Ala189Thr) c.685G>A (p.Ala229Thr) c.676G>A (p.Ala226Thr) c.667G>A (p.Ala223Thr) c.538G>A (p.Ala180Thr) n.69+1870C>T | gnomAD v4 |
| 17 | g.8121685G>A | CA497760868 | HES7 | c.579C>T (p.Gly193=) c.564C>T (p.Gly188=) c.684C>T (p.Gly228=) c.675C>T (p.Gly225=) c.666C>T (p.Gly222=) c.537C>T (p.Gly179=) n.69+1871G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121685G>C | CA497760869 | HES7 | c.579C>G (p.Gly193=) c.564C>G (p.Gly188=) c.684C>G (p.Gly228=) c.675C>G (p.Gly225=) c.666C>G (p.Gly222=) c.537C>G (p.Gly179=) n.69+1871G>C | |
| 17 | g.8121685G= | CA2246160056 | HES7 | c.579C= (p.Gly193=) c.564C= (p.Gly188=) c.684C= (p.Gly228=) c.675C= (p.Gly225=) c.666C= (p.Gly222=) c.537C= (p.Gly179=) n.69+1871G= | |
| 17 | g.8121685G>T | CA8368615 | HES7 | c.579C>A (p.Gly193=) c.564C>A (p.Gly188=) c.684C>A (p.Gly228=) c.675C>A (p.Gly225=) c.666C>A (p.Gly222=) c.537C>A (p.Gly179=) n.69+1871G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121686C>A | CA397987385 | HES7 | c.578G>T (p.Gly193Val) c.563G>T (p.Gly188Val) c.683G>T (p.Gly228Val) c.674G>T (p.Gly225Val) c.665G>T (p.Gly222Val) c.536G>T (p.Gly179Val) n.69+1872C>A | gnomAD v4 |
| 17 | g.8121686C= | CA2246160068 | HES7 | c.578G= (p.Gly193=) c.563G= (p.Gly188=) c.683G= (p.Gly228=) c.674G= (p.Gly225=) c.665G= (p.Gly222=) c.536G= (p.Gly179=) n.69+1872C= | |
| 17 | g.8121686C>G | CA397987390 | HES7 | c.578G>C (p.Gly193Ala) c.563G>C (p.Gly188Ala) c.683G>C (p.Gly228Ala) c.674G>C (p.Gly225Ala) c.665G>C (p.Gly222Ala) c.536G>C (p.Gly179Ala) n.69+1872C>G | dbSNP gnomAD v4 |
| 17 | g.8121686C>T | CA397987392 | HES7 | c.578G>A (p.Gly193Asp) c.563G>A (p.Gly188Asp) c.683G>A (p.Gly228Asp) c.674G>A (p.Gly225Asp) c.665G>A (p.Gly222Asp) c.536G>A (p.Gly179Asp) n.69+1872C>T | dbSNP |
| 17 | g.8121687C>A | CA397987395 | HES7 | c.577G>T (p.Gly193Cys) c.562G>T (p.Gly188Cys) c.682G>T (p.Gly228Cys) c.673G>T (p.Gly225Cys) c.664G>T (p.Gly222Cys) c.535G>T (p.Gly179Cys) n.69+1873C>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121687C= | CA2246160071 | HES7 | c.577G= (p.Gly193=) c.562G= (p.Gly188=) c.682G= (p.Gly228=) c.673G= (p.Gly225=) c.664G= (p.Gly222=) c.535G= (p.Gly179=) n.69+1873C= | |
| 17 | g.8121687C>G | CA397987398 | HES7 | c.577G>C (p.Gly193Arg) c.562G>C (p.Gly188Arg) c.682G>C (p.Gly228Arg) c.673G>C (p.Gly225Arg) c.664G>C (p.Gly222Arg) c.535G>C (p.Gly179Arg) n.69+1873C>G | gnomAD v4 |
| 17 | g.8121687C>T | CA397987400 | HES7 | c.577G>A (p.Gly193Ser) c.562G>A (p.Gly188Ser) c.682G>A (p.Gly228Ser) c.673G>A (p.Gly225Ser) c.664G>A (p.Gly222Ser) c.535G>A (p.Gly179Ser) n.69+1873C>T | ClinVar gnomAD v4 |
| 17 | g.8121688A>C | CA497760872 | HES7 | c.576T>G (p.Ser192=) c.561T>G (p.Ser187=) c.681T>G (p.Ser227=) c.672T>G (p.Ser224=) c.663T>G (p.Ser221=) c.534T>G (p.Ser178=) n.69+1874A>C | |
| 17 | g.8121688A>G | CA497760871 | HES7 | c.576T>C (p.Ser192=) c.561T>C (p.Ser187=) c.681T>C (p.Ser227=) c.672T>C (p.Ser224=) c.663T>C (p.Ser221=) c.534T>C (p.Ser178=) n.69+1874A>G | gnomAD v4 |
| 17 | g.8121688A>T | CA497760870 | HES7 | c.576T>A (p.Ser192=) c.561T>A (p.Ser187=) c.681T>A (p.Ser227=) c.672T>A (p.Ser224=) c.663T>A (p.Ser221=) c.534T>A (p.Ser178=) n.69+1874A>T | |
| 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 |