Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.60850514T>ACA371321527CHD7c.5426T>A (p.Met1809Lys)
c.1717-11715T>A (n.1717-11715T>A)
c.5516T>A (p.Met1839Lys)
c.3503T>A (p.Met1168Lys)
c.3053T>A (p.Met1018Lys)
c.2261T>A (p.Met754Lys)
8g.60850514T>CCA371321528CHD7c.5426T>C (p.Met1809Thr)
c.1717-11715T>C (n.1717-11715T>C)
c.5516T>C (p.Met1839Thr)
c.3503T>C (p.Met1168Thr)
c.3053T>C (p.Met1018Thr)
c.2261T>C (p.Met754Thr)
 ClinVar dbSNP gnomAD v4
8g.60850514T>GCA371321530CHD7c.5426T>G (p.Met1809Arg)
c.1717-11715T>G (n.1717-11715T>G)
c.5516T>G (p.Met1839Arg)
c.3503T>G (p.Met1168Arg)
c.3053T>G (p.Met1018Arg)
c.2261T>G (p.Met754Arg)
 ClinVar dbSNP
8g.60850514T=CA1788137723CHD7c.5426T= (p.Met1809=)
c.1717-11715T= (n.1717-11715T=)
c.5516T= (p.Met1839=)
c.3503T= (p.Met1168=)
c.3053T= (p.Met1018=)
c.2261T= (p.Met754=)
8g.60850515G>ACA371321532CHD7c.5427G>A (p.Met1809Ile)
c.1717-11714G>A (n.1717-11714G>A)
c.5517G>A (p.Met1839Ile)
c.3504G>A (p.Met1168Ile)
c.3054G>A (p.Met1018Ile)
c.2262G>A (p.Met754Ile)
8g.60850515G>CCA371321533CHD7c.5427G>C (p.Met1809Ile)
c.1717-11714G>C (n.1717-11714G>C)
c.5517G>C (p.Met1839Ile)
c.3504G>C (p.Met1168Ile)
c.3054G>C (p.Met1018Ile)
c.2262G>C (p.Met754Ile)
8g.60850515G>TCA371321534CHD7c.5427G>T (p.Met1809Ile)
c.1717-11714G>T (n.1717-11714G>T)
c.5517G>T (p.Met1839Ile)
c.3504G>T (p.Met1168Ile)
c.3054G>T (p.Met1018Ile)
c.2262G>T (p.Met754Ile)
8g.60850516C>ACA460848737CHD7c.5428C>A (p.Arg1810=)
c.1717-11713C>A (n.1717-11713C>A)
c.5518C>A (p.Arg1840=)
c.3505C>A (p.Arg1169=)
c.3055C>A (p.Arg1019=)
c.2263C>A (p.Arg755=)
8g.60850516C=CA1788137728CHD7c.5428C= (p.Arg1810=)
c.1717-11713C= (n.1717-11713C=)
c.5518C= (p.Arg1840=)
c.3505C= (p.Arg1169=)
c.3055C= (p.Arg1019=)
c.2263C= (p.Arg755=)
8g.60850516C>GCA371321537CHD7c.5428C>G (p.Arg1810Gly)
c.1717-11713C>G (n.1717-11713C>G)
c.5518C>G (p.Arg1840Gly)
c.3505C>G (p.Arg1169Gly)
c.3055C>G (p.Arg1019Gly)
c.2263C>G (p.Arg755Gly)
8g.60850516C>TCA371321536CHD7c.5428C>T (p.Arg1810Ter)
c.1717-11713C>T (n.1717-11713C>T)
c.5518C>T (p.Arg1840Ter)
c.3505C>T (p.Arg1169Ter)
c.3055C>T (p.Arg1019Ter)
c.2263C>T (p.Arg755Ter)
 ClinVar dbSNP COSMIC
8g.60850517G>ACA4760369CHD7c.5429G>A (p.Arg1810Gln)
c.1717-11712G>A (n.1717-11712G>A)
c.5519G>A (p.Arg1840Gln)
c.3506G>A (p.Arg1169Gln)
c.3056G>A (p.Arg1019Gln)
c.2264G>A (p.Arg755Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60850517G>CCA371321539CHD7c.5429G>C (p.Arg1810Pro)
c.1717-11712G>C (n.1717-11712G>C)
c.5519G>C (p.Arg1840Pro)
c.3506G>C (p.Arg1169Pro)
c.3056G>C (p.Arg1019Pro)
c.2264G>C (p.Arg755Pro)
8g.60850517G=CA1788137732CHD7c.5429G= (p.Arg1810=)
c.1717-11712G= (n.1717-11712G=)
c.5519G= (p.Arg1840=)
c.3506G= (p.Arg1169=)
c.3056G= (p.Arg1019=)
c.2264G= (p.Arg755=)
8g.60850517G>TCA371321541CHD7c.5429G>T (p.Arg1810Leu)
c.1717-11712G>T (n.1717-11712G>T)
c.5519G>T (p.Arg1840Leu)
c.3506G>T (p.Arg1169Leu)
c.3056G>T (p.Arg1019Leu)
c.2264G>T (p.Arg755Leu)
8g.60850518A>CCA460848748CHD7c.5430A>C (p.Arg1810=)
c.1717-11711A>C (n.1717-11711A>C)
c.5520A>C (p.Arg1840=)
c.3507A>C (p.Arg1169=)
c.3057A>C (p.Arg1019=)
c.2265A>C (p.Arg755=)
8g.60850518A>GCA460848746CHD7c.5430A>G (p.Arg1810=)
c.1717-11711A>G (n.1717-11711A>G)
c.5520A>G (p.Arg1840=)
c.3507A>G (p.Arg1169=)
c.3057A>G (p.Arg1019=)
c.2265A>G (p.Arg755=)
8g.60850518A>TCA460848744CHD7c.5430A>T (p.Arg1810=)
c.1717-11711A>T (n.1717-11711A>T)
c.5520A>T (p.Arg1840=)
c.3507A>T (p.Arg1169=)
c.3057A>T (p.Arg1019=)
c.2265A>T (p.Arg755=)
8g.60850519G>ACA4760370CHD7c.5431G>A (p.Ala1811Thr)
c.1717-11710G>A (n.1717-11710G>A)
c.5521G>A (p.Ala1841Thr)
c.3508G>A (p.Ala1170Thr)
c.3058G>A (p.Ala1020Thr)
c.2266G>A (p.Ala756Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60850519G>CCA371321544CHD7c.5431G>C (p.Ala1811Pro)
c.1717-11710G>C (n.1717-11710G>C)
c.5521G>C (p.Ala1841Pro)
c.3508G>C (p.Ala1170Pro)
c.3058G>C (p.Ala1020Pro)
c.2266G>C (p.Ala756Pro)
8g.60850519G=CA1788137737CHD7c.5431G= (p.Ala1811=)
c.1717-11710G= (n.1717-11710G=)
c.5521G= (p.Ala1841=)
c.3508G= (p.Ala1170=)
c.3058G= (p.Ala1020=)
c.2266G= (p.Ala756=)
8g.60850519G>TCA371321545CHD7c.5431G>T (p.Ala1811Ser)
c.1717-11710G>T (n.1717-11710G>T)
c.5521G>T (p.Ala1841Ser)
c.3508G>T (p.Ala1170Ser)
c.3058G>T (p.Ala1020Ser)
c.2266G>T (p.Ala756Ser)
8g.60850520C>ACA371321546CHD7c.5432C>A (p.Ala1811Asp)
c.1717-11709C>A (n.1717-11709C>A)
c.5522C>A (p.Ala1841Asp)
c.3509C>A (p.Ala1170Asp)
c.3059C>A (p.Ala1020Asp)
c.2267C>A (p.Ala756Asp)
8g.60850520C>GCA371321547CHD7c.5432C>G (p.Ala1811Gly)
c.1717-11709C>G (n.1717-11709C>G)
c.5522C>G (p.Ala1841Gly)
c.3509C>G (p.Ala1170Gly)
c.3059C>G (p.Ala1020Gly)
c.2267C>G (p.Ala756Gly)
8g.60850520C>TCA371321549CHD7c.5432C>T (p.Ala1811Val)
c.1717-11709C>T (n.1717-11709C>T)
c.5522C>T (p.Ala1841Val)
c.3509C>T (p.Ala1170Val)
c.3059C>T (p.Ala1020Val)
c.2267C>T (p.Ala756Val)
8g.60850521T>ACA460848756CHD7c.5433T>A (p.Ala1811=)
c.1717-11708T>A (n.1717-11708T>A)
c.5523T>A (p.Ala1841=)
c.3510T>A (p.Ala1170=)
c.3060T>A (p.Ala1020=)
c.2268T>A (p.Ala756=)
8g.60850521T>CCA460848757CHD7c.5433T>C (p.Ala1811=)
c.1717-11708T>C (n.1717-11708T>C)
c.5523T>C (p.Ala1841=)
c.3510T>C (p.Ala1170=)
c.3060T>C (p.Ala1020=)
c.2268T>C (p.Ala756=)
 ClinVar dbSNP
8g.60850521T>GCA460848759CHD7c.5433T>G (p.Ala1811=)
c.1717-11708T>G (n.1717-11708T>G)
c.5523T>G (p.Ala1841=)
c.3510T>G (p.Ala1170=)
c.3060T>G (p.Ala1020=)
c.2268T>G (p.Ala756=)
8g.60850522G>ACA371321550CHD7c.5434G>A (p.Asp1812Asn)
c.1717-11707G>A (n.1717-11707G>A)
c.5524G>A (p.Asp1842Asn)
c.3511G>A (p.Asp1171Asn)
c.3061G>A (p.Asp1021Asn)
c.2269G>A (p.Asp757Asn)
8g.60850522G>CCA371321552CHD7c.5434G>C (p.Asp1812His)
c.1717-11707G>C (n.1717-11707G>C)
c.5524G>C (p.Asp1842His)
c.3511G>C (p.Asp1171His)
c.3061G>C (p.Asp1021His)
c.2269G>C (p.Asp757His)
8g.60850522G>TCA371321553CHD7c.5434G>T (p.Asp1812Tyr)
c.1717-11707G>T (n.1717-11707G>T)
c.5524G>T (p.Asp1842Tyr)
c.3511G>T (p.Asp1171Tyr)
c.3061G>T (p.Asp1021Tyr)
c.2269G>T (p.Asp757Tyr)
8g.60850523A>CCA371321557CHD7c.5435A>C (p.Asp1812Ala)
c.1717-11706A>C (n.1717-11706A>C)
c.5525A>C (p.Asp1842Ala)
c.3512A>C (p.Asp1171Ala)
c.3062A>C (p.Asp1021Ala)
c.2270A>C (p.Asp757Ala)
8g.60850523A>GCA371321556CHD7c.5435A>G (p.Asp1812Gly)
c.1717-11706A>G (n.1717-11706A>G)
c.5525A>G (p.Asp1842Gly)
c.3512A>G (p.Asp1171Gly)
c.3062A>G (p.Asp1021Gly)
c.2270A>G (p.Asp757Gly)
8g.60850523A>TCA371321555CHD7c.5435A>T (p.Asp1812Val)
c.1717-11706A>T (n.1717-11706A>T)
c.5525A>T (p.Asp1842Val)
c.3512A>T (p.Asp1171Val)
c.3062A>T (p.Asp1021Val)
c.2270A>T (p.Asp757Val)
8g.60850524C>ACA371321558CHD7c.5436C>A (p.Asp1812Glu)
c.1717-11705C>A (n.1717-11705C>A)
c.5526C>A (p.Asp1842Glu)
c.3513C>A (p.Asp1171Glu)
c.3063C>A (p.Asp1021Glu)
c.2271C>A (p.Asp757Glu)
 ClinVar dbSNP
8g.60850524C=CA1788137741CHD7c.5436C= (p.Asp1812=)
c.1717-11705C= (n.1717-11705C=)
c.5526C= (p.Asp1842=)
c.3513C= (p.Asp1171=)
c.3063C= (p.Asp1021=)
c.2271C= (p.Asp757=)
8g.60850524C>GCA371321559CHD7c.5436C>G (p.Asp1812Glu)
c.1717-11705C>G (n.1717-11705C>G)
c.5526C>G (p.Asp1842Glu)
c.3513C>G (p.Asp1171Glu)
c.3063C>G (p.Asp1021Glu)
c.2271C>G (p.Asp757Glu)
 ClinVar
8g.60850524C>TCA460848767CHD7c.5436C>T (p.Asp1812=)
c.1717-11705C>T (n.1717-11705C>T)
c.5526C>T (p.Asp1842=)
c.3513C>T (p.Asp1171=)
c.3063C>T (p.Asp1021=)
c.2271C>T (p.Asp757=)
 gnomAD v4
8g.60850525C>ACA371321561CHD7c.5437C>A (p.Pro1813Thr)
c.1717-11704C>A (n.1717-11704C>A)
c.5527C>A (p.Pro1843Thr)
c.3514C>A (p.Pro1172Thr)
c.3064C>A (p.Pro1022Thr)
c.2272C>A (p.Pro758Thr)
8g.60850525C>GCA371321562CHD7c.5437C>G (p.Pro1813Ala)
c.1717-11704C>G (n.1717-11704C>G)
c.5527C>G (p.Pro1843Ala)
c.3514C>G (p.Pro1172Ala)
c.3064C>G (p.Pro1022Ala)
c.2272C>G (p.Pro758Ala)
8g.60850525C>TCA371321564CHD7c.5437C>T (p.Pro1813Ser)
c.1717-11704C>T (n.1717-11704C>T)
c.5527C>T (p.Pro1843Ser)
c.3514C>T (p.Pro1172Ser)
c.3064C>T (p.Pro1022Ser)
c.2272C>T (p.Pro758Ser)
 gnomAD v4
8g.60850526C>ACA371321565CHD7c.5438C>A (p.Pro1813His)
c.1717-11703C>A (n.1717-11703C>A)
c.5528C>A (p.Pro1843His)
c.3515C>A (p.Pro1172His)
c.3065C>A (p.Pro1022His)
c.2273C>A (p.Pro758His)
8g.60850526C=CA1788137745CHD7c.5438C= (p.Pro1813=)
c.1717-11703C= (n.1717-11703C=)
c.5528C= (p.Pro1843=)
c.3515C= (p.Pro1172=)
c.3065C= (p.Pro1022=)
c.2273C= (p.Pro758=)
8g.60850526C>GCA371321567CHD7c.5438C>G (p.Pro1813Arg)
c.1717-11703C>G (n.1717-11703C>G)
c.5528C>G (p.Pro1843Arg)
c.3515C>G (p.Pro1172Arg)
c.3065C>G (p.Pro1022Arg)
c.2273C>G (p.Pro758Arg)
8g.60850526C>TCA371321568CHD7c.5438C>T (p.Pro1813Leu)
c.1717-11703C>T (n.1717-11703C>T)
c.5528C>T (p.Pro1843Leu)
c.3515C>T (p.Pro1172Leu)
c.3065C>T (p.Pro1022Leu)
c.2273C>T (p.Pro758Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60850527C>ACA460848776CHD7c.5439C>A (p.Pro1813=)
c.1717-11702C>A (n.1717-11702C>A)
c.5529C>A (p.Pro1843=)
c.3516C>A (p.Pro1172=)
c.3066C>A (p.Pro1022=)
c.2274C>A (p.Pro758=)
8g.60850527C=CA1788137749CHD7c.5439C= (p.Pro1813=)
c.1717-11702C= (n.1717-11702C=)
c.5529C= (p.Pro1843=)
c.3516C= (p.Pro1172=)
c.3066C= (p.Pro1022=)
c.2274C= (p.Pro758=)
8g.60850527C>GCA460848778CHD7c.5439C>G (p.Pro1813=)
c.1717-11702C>G (n.1717-11702C>G)
c.5529C>G (p.Pro1843=)
c.3516C>G (p.Pro1172=)
c.3066C>G (p.Pro1022=)
c.2274C>G (p.Pro758=)
8g.60850527C>TCA233723CHD7c.5439C>T (p.Pro1813=)
c.1717-11702C>T (n.1717-11702C>T)
c.5529C>T (p.Pro1843=)
c.3516C>T (p.Pro1172=)
c.3066C>T (p.Pro1022=)
c.2274C>T (p.Pro758=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.60850528G>ACA4760371CHD7c.5440G>A (p.Ala1814Thr)
c.1717-11701G>A (n.1717-11701G>A)
c.5530G>A (p.Ala1844Thr)
c.3517G>A (p.Ala1173Thr)
c.3067G>A (p.Ala1023Thr)
c.2275G>A (p.Ala759Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.60850528G>CCA371321571CHD7c.5440G>C (p.Ala1814Pro)
c.1717-11701G>C (n.1717-11701G>C)
c.5530G>C (p.Ala1844Pro)
c.3517G>C (p.Ala1173Pro)
c.3067G>C (p.Ala1023Pro)
c.2275G>C (p.Ala759Pro)
8g.60850528G=CA1788137761CHD7c.5440G= (p.Ala1814=)
c.1717-11701G= (n.1717-11701G=)
c.5530G= (p.Ala1844=)
c.3517G= (p.Ala1173=)
c.3067G= (p.Ala1023=)
c.2275G= (p.Ala759=)
8g.60850528G>TCA371321573CHD7c.5440G>T (p.Ala1814Ser)
c.1717-11701G>T (n.1717-11701G>T)
c.5530G>T (p.Ala1844Ser)
c.3517G>T (p.Ala1173Ser)
c.3067G>T (p.Ala1023Ser)
c.2275G>T (p.Ala759Ser)
8g.60850529C>ACA371321578CHD7c.5441C>A (p.Ala1814Glu)
c.1717-11700C>A (n.1717-11700C>A)
c.5531C>A (p.Ala1844Glu)
c.3518C>A (p.Ala1173Glu)
c.3068C>A (p.Ala1023Glu)
c.2276C>A (p.Ala759Glu)
8g.60850529C=CA1788137769CHD7c.5441C= (p.Ala1814=)
c.1717-11700C= (n.1717-11700C=)
c.5531C= (p.Ala1844=)
c.3518C= (p.Ala1173=)
c.3068C= (p.Ala1023=)
c.2276C= (p.Ala759=)
8g.60850529C>GCA371321576CHD7c.5441C>G (p.Ala1814Gly)
c.1717-11700C>G (n.1717-11700C>G)
c.5531C>G (p.Ala1844Gly)
c.3518C>G (p.Ala1173Gly)
c.3068C>G (p.Ala1023Gly)
c.2276C>G (p.Ala759Gly)
8g.60850529C>TCA371321574CHD7c.5441C>T (p.Ala1814Val)
c.1717-11700C>T (n.1717-11700C>T)
c.5531C>T (p.Ala1844Val)
c.3518C>T (p.Ala1173Val)
c.3068C>T (p.Ala1023Val)
c.2276C>T (p.Ala759Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
8g.60850530G>ACA4760372CHD7c.5442G>A (p.Ala1814=)
c.1717-11699G>A (n.1717-11699G>A)
c.5532G>A (p.Ala1844=)
c.3519G>A (p.Ala1173=)
c.3069G>A (p.Ala1023=)
c.2277G>A (p.Ala759=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60850530G>CCA460848787CHD7c.5442G>C (p.Ala1814=)
c.1717-11699G>C (n.1717-11699G>C)
c.5532G>C (p.Ala1844=)
c.3519G>C (p.Ala1173=)
c.3069G>C (p.Ala1023=)
c.2277G>C (p.Ala759=)
 gnomAD v4
8g.60850530G=CA1788137772CHD7c.5442G= (p.Ala1814=)
c.1717-11699G= (n.1717-11699G=)
c.5532G= (p.Ala1844=)
c.3519G= (p.Ala1173=)
c.3069G= (p.Ala1023=)
c.2277G= (p.Ala759=)
8g.60850530G>TCA460848789CHD7c.5442G>T (p.Ala1814=)
c.1717-11699G>T (n.1717-11699G>T)
c.5532G>T (p.Ala1844=)
c.3519G>T (p.Ala1173=)
c.3069G>T (p.Ala1023=)
c.2277G>T (p.Ala759=)
8g.60850531C>ACA371321579CHD7c.5443C>A (p.Leu1815Met)
c.1717-11698C>A (n.1717-11698C>A)
c.5533C>A (p.Leu1845Met)
c.3520C>A (p.Leu1174Met)
c.3070C>A (p.Leu1024Met)
c.2278C>A (p.Leu760Met)
8g.60850531C>GCA371321581CHD7c.5443C>G (p.Leu1815Val)
c.1717-11698C>G (n.1717-11698C>G)
c.5533C>G (p.Leu1845Val)
c.3520C>G (p.Leu1174Val)
c.3070C>G (p.Leu1024Val)
c.2278C>G (p.Leu760Val)
8g.60850531C>TCA460848794CHD7c.5443C>T (p.Leu1815=)
c.1717-11698C>T (n.1717-11698C>T)
c.5533C>T (p.Leu1845=)
c.3520C>T (p.Leu1174=)
c.3070C>T (p.Leu1024=)
c.2278C>T (p.Leu760=)
8g.60850532T>ACA371321583CHD7c.5444T>A (p.Leu1815Gln)
c.1717-11697T>A (n.1717-11697T>A)
c.5534T>A (p.Leu1845Gln)
c.3521T>A (p.Leu1174Gln)
c.3071T>A (p.Leu1024Gln)
c.2279T>A (p.Leu760Gln)
8g.60850532T>CCA371321584CHD7c.5444T>C (p.Leu1815Pro)
c.1717-11697T>C (n.1717-11697T>C)
c.5534T>C (p.Leu1845Pro)
c.3521T>C (p.Leu1174Pro)
c.3071T>C (p.Leu1024Pro)
c.2279T>C (p.Leu760Pro)
8g.60850532T>GCA371321586CHD7c.5444T>G (p.Leu1815Arg)
c.1717-11697T>G (n.1717-11697T>G)
c.5534T>G (p.Leu1845Arg)
c.3521T>G (p.Leu1174Arg)
c.3071T>G (p.Leu1024Arg)
c.2279T>G (p.Leu760Arg)
8g.60850533G>ACA4760373CHD7c.5445G>A (p.Leu1815=)
c.1717-11696G>A (n.1717-11696G>A)
c.5535G>A (p.Leu1845=)
c.3522G>A (p.Leu1174=)
c.3072G>A (p.Leu1024=)
c.2280G>A (p.Leu760=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60850533G>CCA460848800CHD7c.5445G>C (p.Leu1815=)
c.1717-11696G>C (n.1717-11696G>C)
c.5535G>C (p.Leu1845=)
c.3522G>C (p.Leu1174=)
c.3072G>C (p.Leu1024=)
c.2280G>C (p.Leu760=)
8g.60850533G=CA1788137778CHD7c.5445G= (p.Leu1815=)
c.1717-11696G= (n.1717-11696G=)
c.5535G= (p.Leu1845=)
c.3522G= (p.Leu1174=)
c.3072G= (p.Leu1024=)
c.2280G= (p.Leu760=)
8g.60850533G>TCA460848802CHD7c.5445G>T (p.Leu1815=)
c.1717-11696G>T (n.1717-11696G>T)
c.5535G>T (p.Leu1845=)
c.3522G>T (p.Leu1174=)
c.3072G>T (p.Leu1024=)
c.2280G>T (p.Leu760=)
8g.60850534T>ACA371321588CHD7c.5446T>A (p.Cys1816Ser)
c.1717-11695T>A (n.1717-11695T>A)
c.5536T>A (p.Cys1846Ser)
c.3523T>A (p.Cys1175Ser)
c.3073T>A (p.Cys1025Ser)
c.2281T>A (p.Cys761Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.60850534T>CCA371321589CHD7c.5446T>C (p.Cys1816Arg)
c.1717-11695T>C (n.1717-11695T>C)
c.5536T>C (p.Cys1846Arg)
c.3523T>C (p.Cys1175Arg)
c.3073T>C (p.Cys1025Arg)
c.2281T>C (p.Cys761Arg)
 ClinVar
8g.60850534T>GCA371321590CHD7c.5446T>G (p.Cys1816Gly)
c.1717-11695T>G (n.1717-11695T>G)
c.5536T>G (p.Cys1846Gly)
c.3523T>G (p.Cys1175Gly)
c.3073T>G (p.Cys1025Gly)
c.2281T>G (p.Cys761Gly)
8g.60850534T=CA1788137782CHD7c.5446T= (p.Cys1816=)
c.1717-11695T= (n.1717-11695T=)
c.5536T= (p.Cys1846=)
c.3523T= (p.Cys1175=)
c.3073T= (p.Cys1025=)
c.2281T= (p.Cys761=)
8g.60850535G>ACA371321592CHD7c.5447G>A (p.Cys1816Tyr)
c.1717-11694G>A (n.1717-11694G>A)
c.5537G>A (p.Cys1846Tyr)
c.3524G>A (p.Cys1175Tyr)
c.3074G>A (p.Cys1025Tyr)
c.2282G>A (p.Cys761Tyr)
 dbSNP gnomAD v4
8g.60850535G>CCA4760374CHD7c.5447G>C (p.Cys1816Ser)
c.1717-11694G>C (n.1717-11694G>C)
c.5537G>C (p.Cys1846Ser)
c.3524G>C (p.Cys1175Ser)
c.3074G>C (p.Cys1025Ser)
c.2282G>C (p.Cys761Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60850535G=CA1788137785CHD7c.5447G= (p.Cys1816=)
c.1717-11694G= (n.1717-11694G=)
c.5537G= (p.Cys1846=)
c.3524G= (p.Cys1175=)
c.3074G= (p.Cys1025=)
c.2282G= (p.Cys761=)
8g.60850535G>TCA371321594CHD7c.5447G>T (p.Cys1816Phe)
c.1717-11694G>T (n.1717-11694G>T)
c.5537G>T (p.Cys1846Phe)
c.3524G>T (p.Cys1175Phe)
c.3074G>T (p.Cys1025Phe)
c.2282G>T (p.Cys761Phe)
8g.60850536C>ACA371321597CHD7c.5448C>A (p.Cys1816Ter)
c.1717-11693C>A (n.1717-11693C>A)
c.5538C>A (p.Cys1846Ter)
c.3525C>A (p.Cys1175Ter)
c.3075C>A (p.Cys1025Ter)
c.2283C>A (p.Cys761Ter)
 dbSNP
8g.60850536C=CA1788137788CHD7c.5448C= (p.Cys1816=)
c.1717-11693C= (n.1717-11693C=)
c.5538C= (p.Cys1846=)
c.3525C= (p.Cys1175=)
c.3075C= (p.Cys1025=)
c.2283C= (p.Cys761=)
8g.60850536C>GCA371321595CHD7c.5448C>G (p.Cys1816Trp)
c.1717-11693C>G (n.1717-11693C>G)
c.5538C>G (p.Cys1846Trp)
c.3525C>G (p.Cys1175Trp)
c.3075C>G (p.Cys1025Trp)
c.2283C>G (p.Cys761Trp)
8g.60850536C>TCA460848812CHD7c.5448C>T (p.Cys1816=)
c.1717-11693C>T (n.1717-11693C>T)
c.5538C>T (p.Cys1846=)
c.3525C>T (p.Cys1175=)
c.3075C>T (p.Cys1025=)
c.2283C>T (p.Cys761=)
 gnomAD v4
8g.60850537T>ACA371321598CHD7c.5449T>A (p.Phe1817Ile)
c.1717-11692T>A (n.1717-11692T>A)
c.5539T>A (p.Phe1847Ile)
c.3526T>A (p.Phe1176Ile)
c.3076T>A (p.Phe1026Ile)
c.2284T>A (p.Phe762Ile)
8g.60850537T>CCA371321600CHD7c.5449T>C (p.Phe1817Leu)
c.1717-11692T>C (n.1717-11692T>C)
c.5539T>C (p.Phe1847Leu)
c.3526T>C (p.Phe1176Leu)
c.3076T>C (p.Phe1026Leu)
c.2284T>C (p.Phe762Leu)
 gnomAD v4
8g.60850537T>GCA371321599CHD7c.5449T>G (p.Phe1817Val)
c.1717-11692T>G (n.1717-11692T>G)
c.5539T>G (p.Phe1847Val)
c.3526T>G (p.Phe1176Val)
c.3076T>G (p.Phe1026Val)
c.2284T>G (p.Phe762Val)
8g.60850538T>ACA371321603CHD7c.5450T>A (p.Phe1817Tyr)
c.1717-11691T>A (n.1717-11691T>A)
c.5540T>A (p.Phe1847Tyr)
c.3527T>A (p.Phe1176Tyr)
c.3077T>A (p.Phe1026Tyr)
c.2285T>A (p.Phe762Tyr)
8g.60850538T>CCA371321604CHD7c.5450T>C (p.Phe1817Ser)
c.1717-11691T>C (n.1717-11691T>C)
c.5540T>C (p.Phe1847Ser)
c.3527T>C (p.Phe1176Ser)
c.3077T>C (p.Phe1026Ser)
c.2285T>C (p.Phe762Ser)
8g.60850538T>GCA271309CHD7c.5450T>G (p.Phe1817Cys)
c.1717-11691T>G (n.1717-11691T>G)
c.5540T>G (p.Phe1847Cys)
c.3527T>G (p.Phe1176Cys)
c.3077T>G (p.Phe1026Cys)
c.2285T>G (p.Phe762Cys)
 ClinVar dbSNP
8g.60850538T=CA1788137792CHD7c.5450T= (p.Phe1817=)
c.1717-11691T= (n.1717-11691T=)
c.5540T= (p.Phe1847=)
c.3527T= (p.Phe1176=)
c.3077T= (p.Phe1026=)
c.2285T= (p.Phe762=)
8g.60850539T>ACA371321606CHD7c.5451T>A (p.Phe1817Leu)
c.1717-11690T>A (n.1717-11690T>A)
c.5541T>A (p.Phe1847Leu)
c.3528T>A (p.Phe1176Leu)
c.3078T>A (p.Phe1026Leu)
c.2286T>A (p.Phe762Leu)
8g.60850539T>CCA460848821CHD7c.5451T>C (p.Phe1817=)
c.1717-11690T>C (n.1717-11690T>C)
c.5541T>C (p.Phe1847=)
c.3528T>C (p.Phe1176=)
c.3078T>C (p.Phe1026=)
c.2286T>C (p.Phe762=)
8g.60850539T>GCA371321608CHD7c.5451T>G (p.Phe1817Leu)
c.1717-11690T>G (n.1717-11690T>G)
c.5541T>G (p.Phe1847Leu)
c.3528T>G (p.Phe1176Leu)
c.3078T>G (p.Phe1026Leu)
c.2286T>G (p.Phe762Leu)
8g.60850540C>ACA371321609CHD7c.5452C>A (p.Leu1818Met)
c.1717-11689C>A (n.1717-11689C>A)
c.5542C>A (p.Leu1848Met)
c.3529C>A (p.Leu1177Met)
c.3079C>A (p.Leu1027Met)
c.2287C>A (p.Leu763Met)
 ClinVar
8g.60850540C>GCA371321611CHD7c.5452C>G (p.Leu1818Val)
c.1717-11689C>G (n.1717-11689C>G)
c.5542C>G (p.Leu1848Val)
c.3529C>G (p.Leu1177Val)
c.3079C>G (p.Leu1027Val)
c.2287C>G (p.Leu763Val)
8g.60850540C>TCA460848824CHD7c.5452C>T (p.Leu1818=)
c.1717-11689C>T (n.1717-11689C>T)
c.5542C>T (p.Leu1848=)
c.3529C>T (p.Leu1177=)
c.3079C>T (p.Leu1027=)
c.2287C>T (p.Leu763=)
8g.60850541T>ACA371321613CHD7c.5453T>A (p.Leu1818Gln)
c.1717-11688T>A (n.1717-11688T>A)
c.5543T>A (p.Leu1848Gln)
c.3530T>A (p.Leu1177Gln)
c.3080T>A (p.Leu1027Gln)
c.2288T>A (p.Leu763Gln)
 gnomAD v4
8g.60850541T>CCA371321616CHD7c.5453T>C (p.Leu1818Pro)
c.1717-11688T>C (n.1717-11688T>C)
c.5543T>C (p.Leu1848Pro)
c.3530T>C (p.Leu1177Pro)
c.3080T>C (p.Leu1027Pro)
c.2288T>C (p.Leu763Pro)
8g.60850541T>GCA371321614CHD7c.5453T>G (p.Leu1818Arg)
c.1717-11688T>G (n.1717-11688T>G)
c.5543T>G (p.Leu1848Arg)
c.3530T>G (p.Leu1177Arg)
c.3080T>G (p.Leu1027Arg)
c.2288T>G (p.Leu763Arg)
 gnomAD v4
8g.60850541dupCA2695209748CHD7c.5453dup (p.Glu1819GlyfsTer7)
c.1717-11688dup (n.1717-11688dup)
c.5543dup (p.Glu1849GlyfsTer7)
c.3530dup (p.Glu1178GlyfsTer7)
c.3080dup (p.Glu1028GlyfsTer7)
c.2288dup (p.Glu764GlyfsTer7)
8g.60850542_60851257delCA645546294CHD7c.5454_5608-5del
c.1717-11687_1717-10972del (n.1717-11687_1717-10972del)
c.5544_5698-5del
c.3531_3685-5del
c.3081_3235-5del
c.2289_2443-5del
 COSMIC
8g.60850542G>ACA4760375CHD7c.5454G>A (p.Leu1818=)
c.1717-11687G>A (n.1717-11687G>A)
c.5544G>A (p.Leu1848=)
c.3531G>A (p.Leu1177=)
c.3081G>A (p.Leu1027=)
c.2289G>A (p.Leu763=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60850542G>CCA460848832CHD7c.5454G>C (p.Leu1818=)
c.1717-11687G>C (n.1717-11687G>C)
c.5544G>C (p.Leu1848=)
c.3531G>C (p.Leu1177=)
c.3081G>C (p.Leu1027=)
c.2289G>C (p.Leu763=)
8g.60850542G=CA1788137796CHD7c.5454G= (p.Leu1818=)
c.1717-11687G= (n.1717-11687G=)
c.5544G= (p.Leu1848=)
c.3531G= (p.Leu1177=)
c.3081G= (p.Leu1027=)
c.2289G= (p.Leu763=)
8g.60850542G>TCA460848834CHD7c.5454G>T (p.Leu1818=)
c.1717-11687G>T (n.1717-11687G>T)
c.5544G>T (p.Leu1848=)
c.3531G>T (p.Leu1177=)
c.3081G>T (p.Leu1027=)
c.2289G>T (p.Leu763=)
8g.60850543G>ACA371321619CHD7c.5455G>A (p.Glu1819Lys)
c.1717-11686G>A (n.1717-11686G>A)
c.5545G>A (p.Glu1849Lys)
c.3532G>A (p.Glu1178Lys)
c.3082G>A (p.Glu1028Lys)
c.2290G>A (p.Glu764Lys)
8g.60850543G>CCA371321620CHD7c.5455G>C (p.Glu1819Gln)
c.1717-11686G>C (n.1717-11686G>C)
c.5545G>C (p.Glu1849Gln)
c.3532G>C (p.Glu1178Gln)
c.3082G>C (p.Glu1028Gln)
c.2290G>C (p.Glu764Gln)
8g.60850543G>TCA371321621CHD7c.5455G>T (p.Glu1819Ter)
c.1717-11686G>T (n.1717-11686G>T)
c.5545G>T (p.Glu1849Ter)
c.3532G>T (p.Glu1178Ter)
c.3082G>T (p.Glu1028Ter)
c.2290G>T (p.Glu764Ter)
8g.60850544A>CCA371321627CHD7c.5456A>C (p.Glu1819Ala)
c.1717-11685A>C (n.1717-11685A>C)
c.5546A>C (p.Glu1849Ala)
c.3533A>C (p.Glu1178Ala)
c.3083A>C (p.Glu1028Ala)
c.2291A>C (p.Glu764Ala)
8g.60850544A>GCA371321623CHD7c.5456A>G (p.Glu1819Gly)
c.1717-11685A>G (n.1717-11685A>G)
c.5546A>G (p.Glu1849Gly)
c.3533A>G (p.Glu1178Gly)
c.3083A>G (p.Glu1028Gly)
c.2291A>G (p.Glu764Gly)
8g.60850544A>TCA371321625CHD7c.5456A>T (p.Glu1819Val)
c.1717-11685A>T (n.1717-11685A>T)
c.5546A>T (p.Glu1849Val)
c.3533A>T (p.Glu1178Val)
c.3083A>T (p.Glu1028Val)
c.2291A>T (p.Glu764Val)
8g.60850545A>CCA371321628CHD7c.5457A>C (p.Glu1819Asp)
c.1717-11684A>C (n.1717-11684A>C)
c.5547A>C (p.Glu1849Asp)
c.3534A>C (p.Glu1178Asp)
c.3084A>C (p.Glu1028Asp)
c.2292A>C (p.Glu764Asp)
8g.60850545A>GCA460848844CHD7c.5457A>G (p.Glu1819=)
c.1717-11684A>G (n.1717-11684A>G)
c.5547A>G (p.Glu1849=)
c.3534A>G (p.Glu1178=)
c.3084A>G (p.Glu1028=)
c.2292A>G (p.Glu764=)
 gnomAD v4
8g.60850545A>TCA371321629CHD7c.5457A>T (p.Glu1819Asp)
c.1717-11684A>T (n.1717-11684A>T)
c.5547A>T (p.Glu1849Asp)
c.3534A>T (p.Glu1178Asp)
c.3084A>T (p.Glu1028Asp)
c.2292A>T (p.Glu764Asp)
8g.60850546C>ACA460848847CHD7c.5458C>A (p.Arg1820=)
c.1717-11683C>A (n.1717-11683C>A)
c.5548C>A (p.Arg1850=)
c.3535C>A (p.Arg1179=)
c.3085C>A (p.Arg1029=)
c.2293C>A (p.Arg765=)
8g.60850546C=CA1788137801CHD7c.5458C= (p.Arg1820=)
c.1717-11683C= (n.1717-11683C=)
c.5548C= (p.Arg1850=)
c.3535C= (p.Arg1179=)
c.3085C= (p.Arg1029=)
c.2293C= (p.Arg765=)
8g.60850546C>GCA371321631CHD7c.5458C>G (p.Arg1820Gly)
c.1717-11683C>G (n.1717-11683C>G)
c.5548C>G (p.Arg1850Gly)
c.3535C>G (p.Arg1179Gly)
c.3085C>G (p.Arg1029Gly)
c.2293C>G (p.Arg765Gly)
8g.60850546C>TCA271312CHD7c.5458C>T (p.Arg1820Ter)
c.1717-11683C>T (n.1717-11683C>T)
c.5548C>T (p.Arg1850Ter)
c.3535C>T (p.Arg1179Ter)
c.3085C>T (p.Arg1029Ter)
c.2293C>T (p.Arg765Ter)
 ClinVar dbSNP gnomAD v2
8g.60850547G>ACA4760376CHD7c.5459G>A (p.Arg1820Gln)
c.1717-11682G>A (n.1717-11682G>A)
c.5549G>A (p.Arg1850Gln)
c.3536G>A (p.Arg1179Gln)
c.3086G>A (p.Arg1029Gln)
c.2294G>A (p.Arg765Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.60850547G>CCA371321634CHD7c.5459G>C (p.Arg1820Pro)
c.1717-11682G>C (n.1717-11682G>C)
c.5549G>C (p.Arg1850Pro)
c.3536G>C (p.Arg1179Pro)
c.3086G>C (p.Arg1029Pro)
c.2294G>C (p.Arg765Pro)
8g.60850547G=CA1788137808CHD7c.5459G= (p.Arg1820=)
c.1717-11682G= (n.1717-11682G=)
c.5549G= (p.Arg1850=)
c.3536G= (p.Arg1179=)
c.3086G= (p.Arg1029=)
c.2294G= (p.Arg765=)
8g.60850547G>TCA371321635CHD7c.5459G>T (p.Arg1820Leu)
c.1717-11682G>T (n.1717-11682G>T)
c.5549G>T (p.Arg1850Leu)
c.3536G>T (p.Arg1179Leu)
c.3086G>T (p.Arg1029Leu)
c.2294G>T (p.Arg765Leu)
 dbSNP
8g.60850548A>CCA460848853CHD7c.5460A>C (p.Arg1820=)
c.1717-11681A>C (n.1717-11681A>C)
c.5550A>C (p.Arg1850=)
c.3537A>C (p.Arg1179=)
c.3087A>C (p.Arg1029=)
c.2295A>C (p.Arg765=)
8g.60850548A>GCA460848855CHD7c.5460A>G (p.Arg1820=)
c.1717-11681A>G (n.1717-11681A>G)
c.5550A>G (p.Arg1850=)
c.3537A>G (p.Arg1179=)
c.3087A>G (p.Arg1029=)
c.2295A>G (p.Arg765=)
8g.60850548A>TCA460848856CHD7c.5460A>T (p.Arg1820=)
c.1717-11681A>T (n.1717-11681A>T)
c.5550A>T (p.Arg1850=)
c.3537A>T (p.Arg1179=)
c.3087A>T (p.Arg1029=)
c.2295A>T (p.Arg765=)
8g.60850549G>ACA371321637CHD7c.5461G>A (p.Val1821Ile)
c.1717-11680G>A (n.1717-11680G>A)
c.5551G>A (p.Val1851Ile)
c.3538G>A (p.Val1180Ile)
c.3088G>A (p.Val1030Ile)
c.2296G>A (p.Val766Ile)
8g.60850549G>CCA371321639CHD7c.5461G>C (p.Val1821Leu)
c.1717-11680G>C (n.1717-11680G>C)
c.5551G>C (p.Val1851Leu)
c.3538G>C (p.Val1180Leu)
c.3088G>C (p.Val1030Leu)
c.2296G>C (p.Val766Leu)
8g.60850549G>TCA371321640CHD7c.5461G>T (p.Val1821Phe)
c.1717-11680G>T (n.1717-11680G>T)
c.5551G>T (p.Val1851Phe)
c.3538G>T (p.Val1180Phe)
c.3088G>T (p.Val1030Phe)
c.2296G>T (p.Val766Phe)
8g.60850550T>ACA371321642CHD7c.5462T>A (p.Val1821Asp)
c.1717-11679T>A (n.1717-11679T>A)
c.5552T>A (p.Val1851Asp)
c.3539T>A (p.Val1180Asp)
c.3089T>A (p.Val1030Asp)
c.2297T>A (p.Val766Asp)
8g.60850550T>CCA371321643CHD7c.5462T>C (p.Val1821Ala)
c.1717-11679T>C (n.1717-11679T>C)
c.5552T>C (p.Val1851Ala)
c.3539T>C (p.Val1180Ala)
c.3089T>C (p.Val1030Ala)
c.2297T>C (p.Val766Ala)
8g.60850550T>GCA371321645CHD7c.5462T>G (p.Val1821Gly)
c.1717-11679T>G (n.1717-11679T>G)
c.5552T>G (p.Val1851Gly)
c.3539T>G (p.Val1180Gly)
c.3089T>G (p.Val1030Gly)
c.2297T>G (p.Val766Gly)
 gnomAD v4
8g.60850551C>ACA460848864CHD7c.5463C>A (p.Val1821=)
c.1717-11678C>A (n.1717-11678C>A)
c.5553C>A (p.Val1851=)
c.3540C>A (p.Val1180=)
c.3090C>A (p.Val1030=)
c.2298C>A (p.Val766=)
8g.60850551C=CA1788137812CHD7c.5463C= (p.Val1821=)
c.1717-11678C= (n.1717-11678C=)
c.5553C= (p.Val1851=)
c.3540C= (p.Val1180=)
c.3090C= (p.Val1030=)
c.2298C= (p.Val766=)
8g.60850551C>GCA460848868CHD7c.5463C>G (p.Val1821=)
c.1717-11678C>G (n.1717-11678C>G)
c.5553C>G (p.Val1851=)
c.3540C>G (p.Val1180=)
c.3090C>G (p.Val1030=)
c.2298C>G (p.Val766=)
8g.60850551C>TCA460848866CHD7c.5463C>T (p.Val1821=)
c.1717-11678C>T (n.1717-11678C>T)
c.5553C>T (p.Val1851=)
c.3540C>T (p.Val1180=)
c.3090C>T (p.Val1030=)
c.2298C>T (p.Val766=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60850552G>ACA371321649CHD7c.5464G>A (p.Gly1822Ser)
c.1717-11677G>A (n.1717-11677G>A)
c.5554G>A (p.Gly1852Ser)
c.3541G>A (p.Gly1181Ser)
c.3091G>A (p.Gly1031Ser)
c.2299G>A (p.Gly767Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.60850552G>CCA371321646CHD7c.5464G>C (p.Gly1822Arg)
c.1717-11677G>C (n.1717-11677G>C)
c.5554G>C (p.Gly1852Arg)
c.3541G>C (p.Gly1181Arg)
c.3091G>C (p.Gly1031Arg)
c.2299G>C (p.Gly767Arg)
8g.60850552G=CA1788137817CHD7c.5464G= (p.Gly1822=)
c.1717-11677G= (n.1717-11677G=)
c.5554G= (p.Gly1852=)
c.3541G= (p.Gly1181=)
c.3091G= (p.Gly1031=)
c.2299G= (p.Gly767=)
8g.60850552G>TCA371321648CHD7c.5464G>T (p.Gly1822Cys)
c.1717-11677G>T (n.1717-11677G>T)
c.5554G>T (p.Gly1852Cys)
c.3541G>T (p.Gly1181Cys)
c.3091G>T (p.Gly1031Cys)
c.2299G>T (p.Gly767Cys)
8g.60850553G>ACA371321651CHD7c.5465G>A (p.Gly1822Asp)
c.1717-11676G>A (n.1717-11676G>A)
c.5555G>A (p.Gly1852Asp)
c.3542G>A (p.Gly1181Asp)
c.3092G>A (p.Gly1031Asp)
c.2300G>A (p.Gly767Asp)
8g.60850553G>CCA371321652CHD7c.5465G>C (p.Gly1822Ala)
c.1717-11676G>C (n.1717-11676G>C)
c.5555G>C (p.Gly1852Ala)
c.3542G>C (p.Gly1181Ala)
c.3092G>C (p.Gly1031Ala)
c.2300G>C (p.Gly767Ala)
8g.60850553G=CA1788137821CHD7c.5465G= (p.Gly1822=)
c.1717-11676G= (n.1717-11676G=)
c.5555G= (p.Gly1852=)
c.3542G= (p.Gly1181=)
c.3092G= (p.Gly1031=)
c.2300G= (p.Gly767=)
8g.60850553G>TCA371321654CHD7c.5465G>T (p.Gly1822Val)
c.1717-11676G>T (n.1717-11676G>T)
c.5555G>T (p.Gly1852Val)
c.3542G>T (p.Gly1181Val)
c.3092G>T (p.Gly1031Val)
c.2300G>T (p.Gly767Val)
 dbSNP
8g.60850554T>ACA460848876CHD7c.5466T>A (p.Gly1822=)
c.1717-11675T>A (n.1717-11675T>A)
c.5556T>A (p.Gly1852=)
c.3543T>A (p.Gly1181=)
c.3093T>A (p.Gly1031=)
c.2301T>A (p.Gly767=)
8g.60850554T>CCA460848877CHD7c.5466T>C (p.Gly1822=)
c.1717-11675T>C (n.1717-11675T>C)
c.5556T>C (p.Gly1852=)
c.3543T>C (p.Gly1181=)
c.3093T>C (p.Gly1031=)
c.2301T>C (p.Gly767=)
 gnomAD v4
8g.60850554T>GCA460848879CHD7c.5466T>G (p.Gly1822=)
c.1717-11675T>G (n.1717-11675T>G)
c.5556T>G (p.Gly1852=)
c.3543T>G (p.Gly1181=)
c.3093T>G (p.Gly1031=)
c.2301T>G (p.Gly767=)
8g.60850555A=CA1788137825CHD7c.5467A= (p.Met1823=)
c.1717-11674A= (n.1717-11674A=)
c.5557A= (p.Met1853=)
c.3544A= (p.Met1182=)
c.3094A= (p.Met1032=)
c.2302A= (p.Met768=)
8g.60850555A>CCA371321655CHD7c.5467A>C (p.Met1823Leu)
c.1717-11674A>C (n.1717-11674A>C)
c.5557A>C (p.Met1853Leu)
c.3544A>C (p.Met1182Leu)
c.3094A>C (p.Met1032Leu)
c.2302A>C (p.Met768Leu)
8g.60850555A>GCA4760377CHD7c.5467A>G (p.Met1823Val)
c.1717-11674A>G (n.1717-11674A>G)
c.5557A>G (p.Met1853Val)
c.3544A>G (p.Met1182Val)
c.3094A>G (p.Met1032Val)
c.2302A>G (p.Met768Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60850555A>TCA371321656CHD7c.5467A>T (p.Met1823Leu)
c.1717-11674A>T (n.1717-11674A>T)
c.5557A>T (p.Met1853Leu)
c.3544A>T (p.Met1182Leu)
c.3094A>T (p.Met1032Leu)
c.2302A>T (p.Met768Leu)
8g.60850556T>ACA371321660CHD7c.5468T>A (p.Met1823Lys)
c.1717-11673T>A (n.1717-11673T>A)
c.5558T>A (p.Met1853Lys)
c.3545T>A (p.Met1182Lys)
c.3095T>A (p.Met1032Lys)
c.2303T>A (p.Met768Lys)
8g.60850556T>CCA371321659CHD7c.5468T>C (p.Met1823Thr)
c.1717-11673T>C (n.1717-11673T>C)
c.5558T>C (p.Met1853Thr)
c.3545T>C (p.Met1182Thr)
c.3095T>C (p.Met1032Thr)
c.2303T>C (p.Met768Thr)
8g.60850556T>GCA371321658CHD7c.5468T>G (p.Met1823Arg)
c.1717-11673T>G (n.1717-11673T>G)
c.5558T>G (p.Met1853Arg)
c.3545T>G (p.Met1182Arg)
c.3095T>G (p.Met1032Arg)
c.2303T>G (p.Met768Arg)
8g.60850557G>ACA371321662CHD7c.5469G>A (p.Met1823Ile)
c.1717-11672G>A (n.1717-11672G>A)
c.5559G>A (p.Met1853Ile)
c.3546G>A (p.Met1182Ile)
c.3096G>A (p.Met1032Ile)
c.2304G>A (p.Met768Ile)
 COSMIC
8g.60850557G>CCA371321663CHD7c.5469G>C (p.Met1823Ile)
c.1717-11672G>C (n.1717-11672G>C)
c.5559G>C (p.Met1853Ile)
c.3546G>C (p.Met1182Ile)
c.3096G>C (p.Met1032Ile)
c.2304G>C (p.Met768Ile)
8g.60850557G>TCA371321665CHD7c.5469G>T (p.Met1823Ile)
c.1717-11672G>T (n.1717-11672G>T)
c.5559G>T (p.Met1853Ile)
c.3546G>T (p.Met1182Ile)
c.3096G>T (p.Met1032Ile)
c.2304G>T (p.Met768Ile)
8g.60850558C>ACA371321667CHD7c.5470C>A (p.Pro1824Thr)
c.1717-11671C>A (n.1717-11671C>A)
c.5560C>A (p.Pro1854Thr)
c.3547C>A (p.Pro1183Thr)
c.3097C>A (p.Pro1033Thr)
c.2305C>A (p.Pro769Thr)
8g.60850558C>GCA371321668CHD7c.5470C>G (p.Pro1824Ala)
c.1717-11671C>G (n.1717-11671C>G)
c.5560C>G (p.Pro1854Ala)
c.3547C>G (p.Pro1183Ala)
c.3097C>G (p.Pro1033Ala)
c.2305C>G (p.Pro769Ala)
8g.60850558C>TCA371321669CHD7c.5470C>T (p.Pro1824Ser)
c.1717-11671C>T (n.1717-11671C>T)
c.5560C>T (p.Pro1854Ser)
c.3547C>T (p.Pro1183Ser)
c.3097C>T (p.Pro1033Ser)
c.2305C>T (p.Pro769Ser)
8g.60850559C>ACA371321672CHD7c.5471C>A (p.Pro1824His)
c.1717-11670C>A (n.1717-11670C>A)
c.5561C>A (p.Pro1854His)
c.3548C>A (p.Pro1183His)
c.3098C>A (p.Pro1033His)
c.2306C>A (p.Pro769His)
8g.60850559C>GCA371321675CHD7c.5471C>G (p.Pro1824Arg)
c.1717-11670C>G (n.1717-11670C>G)
c.5561C>G (p.Pro1854Arg)
c.3548C>G (p.Pro1183Arg)
c.3098C>G (p.Pro1033Arg)
c.2306C>G (p.Pro769Arg)
8g.60850559C>TCA371321673CHD7c.5471C>T (p.Pro1824Leu)
c.1717-11670C>T (n.1717-11670C>T)
c.5561C>T (p.Pro1854Leu)
c.3548C>T (p.Pro1183Leu)
c.3098C>T (p.Pro1033Leu)
c.2306C>T (p.Pro769Leu)
8g.60850560T>ACA460848894CHD7c.5472T>A (p.Pro1824=)
c.1717-11669T>A (n.1717-11669T>A)
c.5562T>A (p.Pro1854=)
c.3549T>A (p.Pro1183=)
c.3099T>A (p.Pro1033=)
c.2307T>A (p.Pro769=)
8g.60850560T>CCA460848895CHD7c.5472T>C (p.Pro1824=)
c.1717-11669T>C (n.1717-11669T>C)
c.5562T>C (p.Pro1854=)
c.3549T>C (p.Pro1183=)
c.3099T>C (p.Pro1033=)
c.2307T>C (p.Pro769=)
8g.60850560T>GCA460848896CHD7c.5472T>G (p.Pro1824=)
c.1717-11669T>G (n.1717-11669T>G)
c.5562T>G (p.Pro1854=)
c.3549T>G (p.Pro1183=)
c.3099T>G (p.Pro1033=)
c.2307T>G (p.Pro769=)
8g.60850561G>ACA371321677CHD7c.5473G>A (p.Asp1825Asn)
c.1717-11668G>A (n.1717-11668G>A)
c.5563G>A (p.Asp1855Asn)
c.3550G>A (p.Asp1184Asn)
c.3100G>A (p.Asp1034Asn)
c.2308G>A (p.Asp770Asn)
 dbSNP gnomAD v2 gnomAD v4
8g.60850561G>CCA371321678CHD7c.5473G>C (p.Asp1825His)
c.1717-11668G>C (n.1717-11668G>C)
c.5563G>C (p.Asp1855His)
c.3550G>C (p.Asp1184His)
c.3100G>C (p.Asp1034His)
c.2308G>C (p.Asp770His)
 gnomAD v4
8g.60850561G=CA1788137828CHD7c.5473G= (p.Asp1825=)
c.1717-11668G= (n.1717-11668G=)
c.5563G= (p.Asp1855=)
c.3550G= (p.Asp1184=)
c.3100G= (p.Asp1034=)
c.2308G= (p.Asp770=)
8g.60850561G>TCA371321680CHD7c.5473G>T (p.Asp1825Tyr)
c.1717-11668G>T (n.1717-11668G>T)
c.5563G>T (p.Asp1855Tyr)
c.3550G>T (p.Asp1184Tyr)
c.3100G>T (p.Asp1034Tyr)
c.2308G>T (p.Asp770Tyr)
 dbSNP gnomAD v2 gnomAD v4
8g.60850562A>CCA371321682CHD7c.5474A>C (p.Asp1825Ala)
c.1717-11667A>C (n.1717-11667A>C)
c.5564A>C (p.Asp1855Ala)
c.3551A>C (p.Asp1184Ala)
c.3101A>C (p.Asp1034Ala)
c.2309A>C (p.Asp770Ala)
8g.60850562A>GCA371321683CHD7c.5474A>G (p.Asp1825Gly)
c.1717-11667A>G (n.1717-11667A>G)
c.5564A>G (p.Asp1855Gly)
c.3551A>G (p.Asp1184Gly)
c.3101A>G (p.Asp1034Gly)
c.2309A>G (p.Asp770Gly)
 gnomAD v4
8g.60850562A>TCA371321684CHD7c.5474A>T (p.Asp1825Val)
c.1717-11667A>T (n.1717-11667A>T)
c.5564A>T (p.Asp1855Val)
c.3551A>T (p.Asp1184Val)
c.3101A>T (p.Asp1034Val)
c.2309A>T (p.Asp770Val)
8g.60850563T>ACA371321685CHD7c.5475T>A (p.Asp1825Glu)
c.1717-11666T>A (n.1717-11666T>A)
c.5565T>A (p.Asp1855Glu)
c.3552T>A (p.Asp1184Glu)
c.3102T>A (p.Asp1034Glu)
c.2310T>A (p.Asp770Glu)
 gnomAD v4
8g.60850563T>CCA460848904CHD7c.5475T>C (p.Asp1825=)
c.1717-11666T>C (n.1717-11666T>C)
c.5565T>C (p.Asp1855=)
c.3552T>C (p.Asp1184=)
c.3102T>C (p.Asp1034=)
c.2310T>C (p.Asp770=)
8g.60850563T>GCA371321687CHD7c.5475T>G (p.Asp1825Glu)
c.1717-11666T>G (n.1717-11666T>G)
c.5565T>G (p.Asp1855Glu)
c.3552T>G (p.Asp1184Glu)
c.3102T>G (p.Asp1034Glu)
c.2310T>G (p.Asp770Glu)
8g.60850564G>ACA371321689CHD7c.5476G>A (p.Ala1826Thr)
c.1717-11665G>A (n.1717-11665G>A)
c.5566G>A (p.Ala1856Thr)
c.3553G>A (p.Ala1185Thr)
c.3103G>A (p.Ala1035Thr)
c.2311G>A (p.Ala771Thr)
8g.60850564G>CCA371321690CHD7c.5476G>C (p.Ala1826Pro)
c.1717-11665G>C (n.1717-11665G>C)
c.5566G>C (p.Ala1856Pro)
c.3553G>C (p.Ala1185Pro)
c.3103G>C (p.Ala1035Pro)
c.2311G>C (p.Ala771Pro)
8g.60850564G>TCA371321692CHD7c.5476G>T (p.Ala1826Ser)
c.1717-11665G>T (n.1717-11665G>T)
c.5566G>T (p.Ala1856Ser)
c.3553G>T (p.Ala1185Ser)
c.3103G>T (p.Ala1035Ser)
c.2311G>T (p.Ala771Ser)
8g.60850565C>ACA371321693CHD7c.5477C>A (p.Ala1826Asp)
c.1717-11664C>A (n.1717-11664C>A)
c.5567C>A (p.Ala1856Asp)
c.3554C>A (p.Ala1185Asp)
c.3104C>A (p.Ala1035Asp)
c.2312C>A (p.Ala771Asp)
8g.60850565C>GCA371321695CHD7c.5477C>G (p.Ala1826Gly)
c.1717-11664C>G (n.1717-11664C>G)
c.5567C>G (p.Ala1856Gly)
c.3554C>G (p.Ala1185Gly)
c.3104C>G (p.Ala1035Gly)
c.2312C>G (p.Ala771Gly)
8g.60850565C>TCA371321694CHD7c.5477C>T (p.Ala1826Val)
c.1717-11664C>T (n.1717-11664C>T)
c.5567C>T (p.Ala1856Val)
c.3554C>T (p.Ala1185Val)
c.3104C>T (p.Ala1035Val)
c.2312C>T (p.Ala771Val)
8g.60850566C>ACA460848909CHD7c.5478C>A (p.Ala1826=)
c.1717-11663C>A (n.1717-11663C>A)
c.5568C>A (p.Ala1856=)
c.3555C>A (p.Ala1185=)
c.3105C>A (p.Ala1035=)
c.2313C>A (p.Ala771=)
8g.60850566C>GCA460848911CHD7c.5478C>G (p.Ala1826=)
c.1717-11663C>G (n.1717-11663C>G)
c.5568C>G (p.Ala1856=)
c.3555C>G (p.Ala1185=)
c.3105C>G (p.Ala1035=)
c.2313C>G (p.Ala771=)
 COSMIC
8g.60850566C>TCA460848913CHD7c.5478C>T (p.Ala1826=)
c.1717-11663C>T (n.1717-11663C>T)
c.5568C>T (p.Ala1856=)
c.3555C>T (p.Ala1185=)
c.3105C>T (p.Ala1035=)
c.2313C>T (p.Ala771=)
8g.60850567A>CCA371321696CHD7c.5479A>C (p.Lys1827Gln)
c.1717-11662A>C (n.1717-11662A>C)
c.5569A>C (p.Lys1857Gln)
c.3556A>C (p.Lys1186Gln)
c.3106A>C (p.Lys1036Gln)
c.2314A>C (p.Lys772Gln)
8g.60850567A>GCA371321698CHD7c.5479A>G (p.Lys1827Glu)
c.1717-11662A>G (n.1717-11662A>G)
c.5569A>G (p.Lys1857Glu)
c.3556A>G (p.Lys1186Glu)
c.3106A>G (p.Lys1036Glu)
c.2314A>G (p.Lys772Glu)
8g.60850567A>TCA371321697CHD7c.5479A>T (p.Lys1827Ter)
c.1717-11662A>T (n.1717-11662A>T)
c.5569A>T (p.Lys1857Ter)
c.3556A>T (p.Lys1186Ter)
c.3106A>T (p.Lys1036Ter)
c.2314A>T (p.Lys772Ter)
8g.60850568delCA2580078865CHD7c.5480del (p.Lys1827ArgfsTer3)
c.1717-11661del (n.1717-11661del)
c.5570del (p.Lys1857ArgfsTer3)
c.3557del (p.Lys1186ArgfsTer3)
c.3107del (p.Lys1036ArgfsTer3)
c.2315del (p.Lys772ArgfsTer3)
 ClinVar
8g.60850568A>CCA371321699CHD7c.5480A>C (p.Lys1827Thr)
c.1717-11661A>C (n.1717-11661A>C)
c.5570A>C (p.Lys1857Thr)
c.3557A>C (p.Lys1186Thr)
c.3107A>C (p.Lys1036Thr)
c.2315A>C (p.Lys772Thr)
8g.60850568A>GCA371321700CHD7c.5480A>G (p.Lys1827Arg)
c.1717-11661A>G (n.1717-11661A>G)
c.5570A>G (p.Lys1857Arg)
c.3557A>G (p.Lys1186Arg)
c.3107A>G (p.Lys1036Arg)
c.2315A>G (p.Lys772Arg)
8g.60850568A>TCA371321701CHD7c.5480A>T (p.Lys1827Met)
c.1717-11661A>T (n.1717-11661A>T)
c.5570A>T (p.Lys1857Met)
c.3557A>T (p.Lys1186Met)
c.3107A>T (p.Lys1036Met)
c.2315A>T (p.Lys772Met)
8g.60850569G>ACA460848921CHD7c.5481G>A (p.Lys1827=)
c.1717-11660G>A (n.1717-11660G>A)
c.5571G>A (p.Lys1857=)
c.3558G>A (p.Lys1186=)
c.3108G>A (p.Lys1036=)
c.2316G>A (p.Lys772=)
8g.60850569G>CCA371321702CHD7c.5481G>C (p.Lys1827Asn)
c.1717-11660G>C (n.1717-11660G>C)
c.5571G>C (p.Lys1857Asn)
c.3558G>C (p.Lys1186Asn)
c.3108G>C (p.Lys1036Asn)
c.2316G>C (p.Lys772Asn)
8g.60850569G>TCA371321703CHD7c.5481G>T (p.Lys1827Asn)
c.1717-11660G>T (n.1717-11660G>T)
c.5571G>T (p.Lys1857Asn)
c.3558G>T (p.Lys1186Asn)
c.3108G>T (p.Lys1036Asn)
c.2316G>T (p.Lys772Asn)
8g.60850570G>ACA371321704CHD7c.5482G>A (p.Ala1828Thr)
c.1717-11659G>A (n.1717-11659G>A)
c.5572G>A (p.Ala1858Thr)
c.3559G>A (p.Ala1187Thr)
c.3109G>A (p.Ala1037Thr)
c.2317G>A (p.Ala773Thr)
 gnomAD v4
8g.60850570G>CCA371321705CHD7c.5482G>C (p.Ala1828Pro)
c.1717-11659G>C (n.1717-11659G>C)
c.5572G>C (p.Ala1858Pro)
c.3559G>C (p.Ala1187Pro)
c.3109G>C (p.Ala1037Pro)
c.2317G>C (p.Ala773Pro)
8g.60850570G>TCA371321706CHD7c.5482G>T (p.Ala1828Ser)
c.1717-11659G>T (n.1717-11659G>T)
c.5572G>T (p.Ala1858Ser)
c.3559G>T (p.Ala1187Ser)
c.3109G>T (p.Ala1037Ser)
c.2317G>T (p.Ala773Ser)
 gnomAD v4
8g.60850571C>ACA371321707CHD7c.5483C>A (p.Ala1828Asp)
c.1717-11658C>A (n.1717-11658C>A)
c.5573C>A (p.Ala1858Asp)
c.3560C>A (p.Ala1187Asp)
c.3110C>A (p.Ala1037Asp)
c.2318C>A (p.Ala773Asp)
8g.60850571C>GCA371321708CHD7c.5483C>G (p.Ala1828Gly)
c.1717-11658C>G (n.1717-11658C>G)
c.5573C>G (p.Ala1858Gly)
c.3560C>G (p.Ala1187Gly)
c.3110C>G (p.Ala1037Gly)
c.2318C>G (p.Ala773Gly)
8g.60850571C>TCA371321709CHD7c.5483C>T (p.Ala1828Val)
c.1717-11658C>T (n.1717-11658C>T)
c.5573C>T (p.Ala1858Val)
c.3560C>T (p.Ala1187Val)
c.3110C>T (p.Ala1037Val)
c.2318C>T (p.Ala773Val)
 gnomAD v4
8g.60850572C>ACA460848929CHD7c.5484C>A (p.Ala1828=)
c.1717-11657C>A (n.1717-11657C>A)
c.5574C>A (p.Ala1858=)
c.3561C>A (p.Ala1187=)
c.3111C>A (p.Ala1037=)
c.2319C>A (p.Ala773=)
 gnomAD v4
8g.60850572C>GCA460848931CHD7c.5484C>G (p.Ala1828=)
c.1717-11657C>G (n.1717-11657C>G)
c.5574C>G (p.Ala1858=)
c.3561C>G (p.Ala1187=)
c.3111C>G (p.Ala1037=)
c.2319C>G (p.Ala773=)
8g.60850572C>TCA460848933CHD7c.5484C>T (p.Ala1828=)
c.1717-11657C>T (n.1717-11657C>T)
c.5574C>T (p.Ala1858=)
c.3561C>T (p.Ala1187=)
c.3111C>T (p.Ala1037=)
c.2319C>T (p.Ala773=)
8g.60850573A>CCA371321712CHD7c.5485A>C (p.Ile1829Leu)
c.1717-11656A>C (n.1717-11656A>C)
c.5575A>C (p.Ile1859Leu)
c.3562A>C (p.Ile1188Leu)
c.3112A>C (p.Ile1038Leu)
c.2320A>C (p.Ile774Leu)
8g.60850573A>GCA371321710CHD7c.5485A>G (p.Ile1829Val)
c.1717-11656A>G (n.1717-11656A>G)
c.5575A>G (p.Ile1859Val)
c.3562A>G (p.Ile1188Val)
c.3112A>G (p.Ile1038Val)
c.2320A>G (p.Ile774Val)
 dbSNP gnomAD v4
8g.60850573A>TCA371321711CHD7c.5485A>T (p.Ile1829Leu)
c.1717-11656A>T (n.1717-11656A>T)
c.5575A>T (p.Ile1859Leu)
c.3562A>T (p.Ile1188Leu)
c.3112A>T (p.Ile1038Leu)
c.2320A>T (p.Ile774Leu)
8g.60850574T>ACA371321713CHD7c.5486T>A (p.Ile1829Lys)
c.1717-11655T>A (n.1717-11655T>A)
c.5576T>A (p.Ile1859Lys)
c.3563T>A (p.Ile1188Lys)
c.3113T>A (p.Ile1038Lys)
c.2321T>A (p.Ile774Lys)
8g.60850574T>CCA371321714CHD7c.5486T>C (p.Ile1829Thr)
c.1717-11655T>C (n.1717-11655T>C)
c.5576T>C (p.Ile1859Thr)
c.3563T>C (p.Ile1188Thr)
c.3113T>C (p.Ile1038Thr)
c.2321T>C (p.Ile774Thr)
8g.60850574T>GCA371321715CHD7c.5486T>G (p.Ile1829Arg)
c.1717-11655T>G (n.1717-11655T>G)
c.5576T>G (p.Ile1859Arg)
c.3563T>G (p.Ile1188Arg)
c.3113T>G (p.Ile1038Arg)
c.2321T>G (p.Ile774Arg)
8g.60850575A>CCA460848942CHD7c.5487A>C (p.Ile1829=)
c.1717-11654A>C (n.1717-11654A>C)
c.5577A>C (p.Ile1859=)
c.3564A>C (p.Ile1188=)
c.3114A>C (p.Ile1038=)
c.2322A>C (p.Ile774=)
8g.60850575A>GCA371321716CHD7c.5487A>G (p.Ile1829Met)
c.1717-11654A>G (n.1717-11654A>G)
c.5577A>G (p.Ile1859Met)
c.3564A>G (p.Ile1188Met)
c.3114A>G (p.Ile1038Met)
c.2322A>G (p.Ile774Met)
 gnomAD v4
8g.60850575A>TCA460848944CHD7c.5487A>T (p.Ile1829=)
c.1717-11654A>T (n.1717-11654A>T)
c.5577A>T (p.Ile1859=)
c.3564A>T (p.Ile1188=)
c.3114A>T (p.Ile1038=)
c.2322A>T (p.Ile774=)
8g.60850576G>ACA371321717CHD7c.5488G>A (p.Ala1830Thr)
c.1717-11653G>A (n.1717-11653G>A)
c.5578G>A (p.Ala1860Thr)
c.3565G>A (p.Ala1189Thr)
c.3115G>A (p.Ala1039Thr)
c.2323G>A (p.Ala775Thr)
8g.60850576G>CCA371321718CHD7c.5488G>C (p.Ala1830Pro)
c.1717-11653G>C (n.1717-11653G>C)
c.5578G>C (p.Ala1860Pro)
c.3565G>C (p.Ala1189Pro)
c.3115G>C (p.Ala1039Pro)
c.2323G>C (p.Ala775Pro)
8g.60850576G>TCA371321719CHD7c.5488G>T (p.Ala1830Ser)
c.1717-11653G>T (n.1717-11653G>T)
c.5578G>T (p.Ala1860Ser)
c.3565G>T (p.Ala1189Ser)
c.3115G>T (p.Ala1039Ser)
c.2323G>T (p.Ala775Ser)
 COSMIC
8g.60850577C>ACA371321720CHD7c.5489C>A (p.Ala1830Asp)
c.1717-11652C>A (n.1717-11652C>A)
c.5579C>A (p.Ala1860Asp)
c.3566C>A (p.Ala1189Asp)
c.3116C>A (p.Ala1039Asp)
c.2324C>A (p.Ala775Asp)
8g.60850577C>GCA371321721CHD7c.5489C>G (p.Ala1830Gly)
c.1717-11652C>G (n.1717-11652C>G)
c.5579C>G (p.Ala1860Gly)
c.3566C>G (p.Ala1189Gly)
c.3116C>G (p.Ala1039Gly)
c.2324C>G (p.Ala775Gly)
8g.60850577C>TCA371321722CHD7c.5489C>T (p.Ala1830Val)
c.1717-11652C>T (n.1717-11652C>T)
c.5579C>T (p.Ala1860Val)
c.3566C>T (p.Ala1189Val)
c.3116C>T (p.Ala1039Val)
c.2324C>T (p.Ala775Val)
 gnomAD v4
8g.60850578T>ACA460848956CHD7c.5490T>A (p.Ala1830=)
c.1717-11651T>A (n.1717-11651T>A)
c.5580T>A (p.Ala1860=)
c.3567T>A (p.Ala1189=)
c.3117T>A (p.Ala1039=)
c.2325T>A (p.Ala775=)
8g.60850578T>CCA460848953CHD7c.5490T>C (p.Ala1830=)
c.1717-11651T>C (n.1717-11651T>C)
c.5580T>C (p.Ala1860=)
c.3567T>C (p.Ala1189=)
c.3117T>C (p.Ala1039=)
c.2325T>C (p.Ala775=)
8g.60850578T>GCA460848951CHD7c.5490T>G (p.Ala1830=)
c.1717-11651T>G (n.1717-11651T>G)
c.5580T>G (p.Ala1860=)
c.3567T>G (p.Ala1189=)
c.3117T>G (p.Ala1039=)
c.2325T>G (p.Ala775=)
8g.60850579G>ACA371321724CHD7c.5491G>A (p.Ala1831Thr)
c.1717-11650G>A (n.1717-11650G>A)
c.5581G>A (p.Ala1861Thr)
c.3568G>A (p.Ala1190Thr)
c.3118G>A (p.Ala1040Thr)
c.2326G>A (p.Ala776Thr)
8g.60850579G>CCA371321725CHD7c.5491G>C (p.Ala1831Pro)
c.1717-11650G>C (n.1717-11650G>C)
c.5581G>C (p.Ala1861Pro)
c.3568G>C (p.Ala1190Pro)
c.3118G>C (p.Ala1040Pro)
c.2326G>C (p.Ala776Pro)
8g.60850579G>TCA371321723CHD7c.5491G>T (p.Ala1831Ser)
c.1717-11650G>T (n.1717-11650G>T)
c.5581G>T (p.Ala1861Ser)
c.3568G>T (p.Ala1190Ser)
c.3118G>T (p.Ala1040Ser)
c.2326G>T (p.Ala776Ser)
8g.60850580C>ACA371321726CHD7c.5492C>A (p.Ala1831Asp)
c.1717-11649C>A (n.1717-11649C>A)
c.5582C>A (p.Ala1861Asp)
c.3569C>A (p.Ala1190Asp)
c.3119C>A (p.Ala1040Asp)
c.2327C>A (p.Ala776Asp)
8g.60850580C>GCA371321727CHD7c.5492C>G (p.Ala1831Gly)
c.1717-11649C>G (n.1717-11649C>G)
c.5582C>G (p.Ala1861Gly)
c.3569C>G (p.Ala1190Gly)
c.3119C>G (p.Ala1040Gly)
c.2327C>G (p.Ala776Gly)
8g.60850580C>TCA371321728CHD7c.5492C>T (p.Ala1831Val)
c.1717-11649C>T (n.1717-11649C>T)
c.5582C>T (p.Ala1861Val)
c.3569C>T (p.Ala1190Val)
c.3119C>T (p.Ala1040Val)
c.2327C>T (p.Ala776Val)
8g.60850581C>ACA460848963CHD7c.5493C>A (p.Ala1831=)
c.1717-11648C>A (n.1717-11648C>A)
c.5583C>A (p.Ala1861=)
c.3570C>A (p.Ala1190=)
c.3120C>A (p.Ala1040=)
c.2328C>A (p.Ala776=)
8g.60850581C=CA1788137831CHD7c.5493C= (p.Ala1831=)
c.1717-11648C= (n.1717-11648C=)
c.5583C= (p.Ala1861=)
c.3570C= (p.Ala1190=)
c.3120C= (p.Ala1040=)
c.2328C= (p.Ala776=)
8g.60850581C>GCA460848965CHD7c.5493C>G (p.Ala1831=)
c.1717-11648C>G (n.1717-11648C>G)
c.5583C>G (p.Ala1861=)
c.3570C>G (p.Ala1190=)
c.3120C>G (p.Ala1040=)
c.2328C>G (p.Ala776=)
8g.60850581C>TCA4760378CHD7c.5493C>T (p.Ala1831=)
c.1717-11648C>T (n.1717-11648C>T)
c.5583C>T (p.Ala1861=)
c.3570C>T (p.Ala1190=)
c.3120C>T (p.Ala1040=)
c.2328C>T (p.Ala776=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.60850582G>ACA4760379CHD7c.5494G>A (p.Glu1832Lys)
c.1717-11647G>A (n.1717-11647G>A)
c.5584G>A (p.Glu1862Lys)
c.3571G>A (p.Glu1191Lys)
c.3121G>A (p.Glu1041Lys)
c.2329G>A (p.Glu777Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60850582G>CCA371321729CHD7c.5494G>C (p.Glu1832Gln)
c.1717-11647G>C (n.1717-11647G>C)
c.5584G>C (p.Glu1862Gln)
c.3571G>C (p.Glu1191Gln)
c.3121G>C (p.Glu1041Gln)
c.2329G>C (p.Glu777Gln)
 COSMIC
8g.60850582G=CA1788137835CHD7c.5494G= (p.Glu1832=)
c.1717-11647G= (n.1717-11647G=)
c.5584G= (p.Glu1862=)
c.3571G= (p.Glu1191=)
c.3121G= (p.Glu1041=)
c.2329G= (p.Glu777=)
8g.60850582G>TCA371321730CHD7c.5494G>T (p.Glu1832Ter)
c.1717-11647G>T (n.1717-11647G>T)
c.5584G>T (p.Glu1862Ter)
c.3571G>T (p.Glu1191Ter)
c.3121G>T (p.Glu1041Ter)
c.2329G>T (p.Glu777Ter)
8g.60850583A>CCA371321731CHD7c.5495A>C (p.Glu1832Ala)
c.1717-11646A>C (n.1717-11646A>C)
c.5585A>C (p.Glu1862Ala)
c.3572A>C (p.Glu1191Ala)
c.3122A>C (p.Glu1041Ala)
c.2330A>C (p.Glu777Ala)
8g.60850583A>GCA371321732CHD7c.5495A>G (p.Glu1832Gly)
c.1717-11646A>G (n.1717-11646A>G)
c.5585A>G (p.Glu1862Gly)
c.3572A>G (p.Glu1191Gly)
c.3122A>G (p.Glu1041Gly)
c.2330A>G (p.Glu777Gly)
8g.60850583A>TCA371321733CHD7c.5495A>T (p.Glu1832Val)
c.1717-11646A>T (n.1717-11646A>T)
c.5585A>T (p.Glu1862Val)
c.3572A>T (p.Glu1191Val)
c.3122A>T (p.Glu1041Val)
c.2330A>T (p.Glu777Val)
8g.60850584G>ACA4760380CHD7c.5496G>A (p.Glu1832=)
c.1717-11645G>A (n.1717-11645G>A)
c.5586G>A (p.Glu1862=)
c.3573G>A (p.Glu1191=)
c.3123G>A (p.Glu1041=)
c.2331G>A (p.Glu777=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60850584G>CCA371321734CHD7c.5496G>C (p.Glu1832Asp)
c.1717-11645G>C (n.1717-11645G>C)
c.5586G>C (p.Glu1862Asp)
c.3573G>C (p.Glu1191Asp)
c.3123G>C (p.Glu1041Asp)
c.2331G>C (p.Glu777Asp)
8g.60850584G=CA1788137837CHD7c.5496G= (p.Glu1832=)
c.1717-11645G= (n.1717-11645G=)
c.5586G= (p.Glu1862=)
c.3573G= (p.Glu1191=)
c.3123G= (p.Glu1041=)
c.2331G= (p.Glu777=)
8g.60850584G>TCA371321735CHD7c.5496G>T (p.Glu1832Asp)
c.1717-11645G>T (n.1717-11645G>T)
c.5586G>T (p.Glu1862Asp)
c.3573G>T (p.Glu1191Asp)
c.3123G>T (p.Glu1041Asp)
c.2331G>T (p.Glu777Asp)
8g.60850585C>ACA371321738CHD7c.5497C>A (p.Gln1833Lys)
c.1717-11644C>A (n.1717-11644C>A)
c.5587C>A (p.Gln1863Lys)
c.3574C>A (p.Gln1192Lys)
c.3124C>A (p.Gln1042Lys)
c.2332C>A (p.Gln778Lys)
8g.60850585C>GCA371321737CHD7c.5497C>G (p.Gln1833Glu)
c.1717-11644C>G (n.1717-11644C>G)
c.5587C>G (p.Gln1863Glu)
c.3574C>G (p.Gln1192Glu)
c.3124C>G (p.Gln1042Glu)
c.2332C>G (p.Gln778Glu)
8g.60850585C>TCA371321736CHD7c.5497C>T (p.Gln1833Ter)
c.1717-11644C>T (n.1717-11644C>T)
c.5587C>T (p.Gln1863Ter)
c.3574C>T (p.Gln1192Ter)
c.3124C>T (p.Gln1042Ter)
c.2332C>T (p.Gln778Ter)
8g.60850586A>CCA371321739CHD7c.5498A>C (p.Gln1833Pro)
c.1717-11643A>C (n.1717-11643A>C)
c.5588A>C (p.Gln1863Pro)
c.3575A>C (p.Gln1192Pro)
c.3125A>C (p.Gln1042Pro)
c.2333A>C (p.Gln778Pro)
8g.60850586A>GCA371321740CHD7c.5498A>G (p.Gln1833Arg)
c.1717-11643A>G (n.1717-11643A>G)
c.5588A>G (p.Gln1863Arg)
c.3575A>G (p.Gln1192Arg)
c.3125A>G (p.Gln1042Arg)
c.2333A>G (p.Gln778Arg)
8g.60850586A>TCA371321741CHD7c.5498A>T (p.Gln1833Leu)
c.1717-11643A>T (n.1717-11643A>T)
c.5588A>T (p.Gln1863Leu)
c.3575A>T (p.Gln1192Leu)
c.3125A>T (p.Gln1042Leu)
c.2333A>T (p.Gln778Leu)
8g.60850587_60850588delCA2695209749CHD7c.5499_5500del (p.Gly1835AsnfsTer9)
c.1717-11642_1717-11641del (n.1717-11642_1717-11641del)
c.5589_5590del (p.Gly1865AsnfsTer9)
c.3576_3577del (p.Gly1194AsnfsTer9)
c.3126_3127del (p.Gly1044AsnfsTer9)
c.2334_2335del (p.Gly780AsnfsTer9)
8g.60850587A=CA1788137841CHD7c.5499A= (p.Gln1833=)
c.1717-11642A= (n.1717-11642A=)
c.5589A= (p.Gln1863=)
c.3576A= (p.Gln1192=)
c.3126A= (p.Gln1042=)
c.2334A= (p.Gln778=)
8g.60850587A>CCA371321742CHD7c.5499A>C (p.Gln1833His)
c.1717-11642A>C (n.1717-11642A>C)
c.5589A>C (p.Gln1863His)
c.3576A>C (p.Gln1192His)
c.3126A>C (p.Gln1042His)
c.2334A>C (p.Gln778His)
8g.60850587A>GCA460848983CHD7c.5499A>G (p.Gln1833=)
c.1717-11642A>G (n.1717-11642A>G)
c.5589A>G (p.Gln1863=)
c.3576A>G (p.Gln1192=)
c.3126A>G (p.Gln1042=)
c.2334A>G (p.Gln778=)
 ClinVar dbSNP
8g.60850587A>TCA371321743CHD7c.5499A>T (p.Gln1833His)
c.1717-11642A>T (n.1717-11642A>T)
c.5589A>T (p.Gln1863His)
c.3576A>T (p.Gln1192His)
c.3126A>T (p.Gln1042His)
c.2334A>T (p.Gln778His)
8g.60850588A=CA1788137843CHD7c.5500A= (p.Arg1834=)
c.1717-11641A= (n.1717-11641A=)
c.5590A= (p.Arg1864=)
c.3577A= (p.Arg1193=)
c.3127A= (p.Arg1043=)
c.2335A= (p.Arg779=)
8g.60850588A>CCA460848986CHD7c.5500A>C (p.Arg1834=)
c.1717-11641A>C (n.1717-11641A>C)
c.5590A>C (p.Arg1864=)
c.3577A>C (p.Arg1193=)
c.3127A>C (p.Arg1043=)
c.2335A>C (p.Arg779=)
8g.60850588A>GCA4760381CHD7c.5500A>G (p.Arg1834Gly)
c.1717-11641A>G (n.1717-11641A>G)
c.5590A>G (p.Arg1864Gly)
c.3577A>G (p.Arg1193Gly)
c.3127A>G (p.Arg1043Gly)
c.2335A>G (p.Arg779Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60850588A>TCA371321744CHD7c.5500A>T (p.Arg1834Ter)
c.1717-11641A>T (n.1717-11641A>T)
c.5590A>T (p.Arg1864Ter)
c.3577A>T (p.Arg1193Ter)
c.3127A>T (p.Arg1043Ter)
c.2335A>T (p.Arg779Ter)
8g.60850589G>ACA371321745CHD7c.5501G>A (p.Arg1834Lys)
c.1717-11640G>A (n.1717-11640G>A)
c.5591G>A (p.Arg1864Lys)
c.3578G>A (p.Arg1193Lys)
c.3128G>A (p.Arg1043Lys)
c.2336G>A (p.Arg779Lys)
 dbSNP gnomAD v2 gnomAD v4
8g.60850589G>CCA371321746CHD7c.5501G>C (p.Arg1834Thr)
c.1717-11640G>C (n.1717-11640G>C)
c.5591G>C (p.Arg1864Thr)
c.3578G>C (p.Arg1193Thr)
c.3128G>C (p.Arg1043Thr)
c.2336G>C (p.Arg779Thr)
 ClinVar
8g.60850589G=CA1788137846CHD7c.5501G= (p.Arg1834=)
c.1717-11640G= (n.1717-11640G=)
c.5591G= (p.Arg1864=)
c.3578G= (p.Arg1193=)
c.3128G= (p.Arg1043=)
c.2336G= (p.Arg779=)
8g.60850589G>TCA371321747CHD7c.5501G>T (p.Arg1834Ile)
c.1717-11640G>T (n.1717-11640G>T)
c.5591G>T (p.Arg1864Ile)
c.3578G>T (p.Arg1193Ile)
c.3128G>T (p.Arg1043Ile)
c.2336G>T (p.Arg779Ile)
8g.60850590A>CCA371321748CHD7c.5502A>C (p.Arg1834Ser)
c.1717-11639A>C (n.1717-11639A>C)
c.5592A>C (p.Arg1864Ser)
c.3579A>C (p.Arg1193Ser)
c.3129A>C (p.Arg1043Ser)
c.2337A>C (p.Arg779Ser)
8g.60850590A>GCA460848993CHD7c.5502A>G (p.Arg1834=)
c.1717-11639A>G (n.1717-11639A>G)
c.5592A>G (p.Arg1864=)
c.3579A>G (p.Arg1193=)
c.3129A>G (p.Arg1043=)
c.2337A>G (p.Arg779=)
 gnomAD v4
8g.60850590A>TCA371321749CHD7c.5502A>T (p.Arg1834Ser)
c.1717-11639A>T (n.1717-11639A>T)
c.5592A>T (p.Arg1864Ser)
c.3579A>T (p.Arg1193Ser)
c.3129A>T (p.Arg1043Ser)
c.2337A>T (p.Arg779Ser)
8g.60850591G>ACA371321752CHD7c.5503G>A (p.Gly1835Arg)
c.1717-11638G>A (n.1717-11638G>A)
c.5593G>A (p.Gly1865Arg)
c.3580G>A (p.Gly1194Arg)
c.3130G>A (p.Gly1044Arg)
c.2338G>A (p.Gly780Arg)
8g.60850591G>CCA371321751CHD7c.5503G>C (p.Gly1835Arg)
c.1717-11638G>C (n.1717-11638G>C)
c.5593G>C (p.Gly1865Arg)
c.3580G>C (p.Gly1194Arg)
c.3130G>C (p.Gly1044Arg)
c.2338G>C (p.Gly780Arg)
8g.60850591G>TCA371321750CHD7c.5503G>T (p.Gly1835Ter)
c.1717-11638G>T (n.1717-11638G>T)
c.5593G>T (p.Gly1865Ter)
c.3580G>T (p.Gly1194Ter)
c.3130G>T (p.Gly1044Ter)
c.2338G>T (p.Gly780Ter)
8g.60850591_60850596delinsGGAACACA1788137850CHD7c.5503_5508delinsGGAACA (p.Gly1835=)
c.1717-11638_1717-11633delinsGGAACA (n.1717-11638_1717-11633delinsGGAACA)
c.5593_5598delinsGGAACA (p.Gly1865=)
c.3580_3585delinsGGAACA (p.Gly1194=)
c.3130_3135delinsGGAACA (p.Gly1044=)
c.2338_2343delinsGGAACA (p.Gly780=)
8g.60850592G>ACA371321753CHD7c.5504G>A (p.Gly1835Glu)
c.1717-11637G>A (n.1717-11637G>A)
c.5594G>A (p.Gly1865Glu)
c.3581G>A (p.Gly1194Glu)
c.3131G>A (p.Gly1044Glu)
c.2339G>A (p.Gly780Glu)
 gnomAD v4
8g.60850592G>CCA371321755CHD7c.5504G>C (p.Gly1835Ala)
c.1717-11637G>C (n.1717-11637G>C)
c.5594G>C (p.Gly1865Ala)
c.3581G>C (p.Gly1194Ala)
c.3131G>C (p.Gly1044Ala)
c.2339G>C (p.Gly780Ala)
8g.60850592G>TCA371321754CHD7c.5504G>T (p.Gly1835Val)
c.1717-11637G>T (n.1717-11637G>T)
c.5594G>T (p.Gly1865Val)
c.3581G>T (p.Gly1194Val)
c.3131G>T (p.Gly1044Val)
c.2339G>T (p.Gly780Val)
 gnomAD v4
8g.60850592_60850596delinsTCA915945701CHD7c.5504_5508delinsT (p.Gly1835ValfsTer4)
c.1717-11637_1717-11633delinsT (n.1717-11637_1717-11633delinsT)
c.5594_5598delinsT (p.Gly1865ValfsTer4)
c.3581_3585delinsT (p.Gly1194ValfsTer4)
c.3131_3135delinsT (p.Gly1044ValfsTer4)
c.2339_2343delinsT (p.Gly780ValfsTer4)
 ClinVar dbSNP
8g.60850593A=CA1788137856CHD7c.5505A= (p.Gly1835=)
c.1717-11636A= (n.1717-11636A=)
c.5595A= (p.Gly1865=)
c.3582A= (p.Gly1194=)
c.3132A= (p.Gly1044=)
c.2340A= (p.Gly780=)
8g.60850593A>CCA460849005CHD7c.5505A>C (p.Gly1835=)
c.1717-11636A>C (n.1717-11636A>C)
c.5595A>C (p.Gly1865=)
c.3582A>C (p.Gly1194=)
c.3132A>C (p.Gly1044=)
c.2340A>C (p.Gly780=)
 dbSNP
8g.60850593A>GCA460849003CHD7c.5505A>G (p.Gly1835=)
c.1717-11636A>G (n.1717-11636A>G)
c.5595A>G (p.Gly1865=)
c.3582A>G (p.Gly1194=)
c.3132A>G (p.Gly1044=)
c.2340A>G (p.Gly780=)
8g.60850593A>TCA460849001CHD7c.5505A>T (p.Gly1835=)
c.1717-11636A>T (n.1717-11636A>T)
c.5595A>T (p.Gly1865=)
c.3582A>T (p.Gly1194=)
c.3132A>T (p.Gly1044=)
c.2340A>T (p.Gly780=)
8g.60850594dupCA2695209750CHD7c.5506dup (p.Thr1836AsnfsTer9)
c.1717-11635dup (n.1717-11635dup)
c.5596dup (p.Thr1866AsnfsTer9)
c.3583dup (p.Thr1195AsnfsTer9)
c.3133dup (p.Thr1045AsnfsTer9)
c.2341dup (p.Thr781AsnfsTer9)
8g.60850594A=CA1788137858CHD7c.5506A= (p.Thr1836=)
c.1717-11635A= (n.1717-11635A=)
c.5596A= (p.Thr1866=)
c.3583A= (p.Thr1195=)
c.3133A= (p.Thr1045=)
c.2341A= (p.Thr781=)
8g.60850594A>CCA371321756CHD7c.5506A>C (p.Thr1836Pro)
c.1717-11635A>C (n.1717-11635A>C)
c.5596A>C (p.Thr1866Pro)
c.3583A>C (p.Thr1195Pro)
c.3133A>C (p.Thr1045Pro)
c.2341A>C (p.Thr781Pro)
8g.60850594A>GCA371321758CHD7c.5506A>G (p.Thr1836Ala)
c.1717-11635A>G (n.1717-11635A>G)
c.5596A>G (p.Thr1866Ala)
c.3583A>G (p.Thr1195Ala)
c.3133A>G (p.Thr1045Ala)
c.2341A>G (p.Thr781Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60850594A>TCA371321757CHD7c.5506A>T (p.Thr1836Ser)
c.1717-11635A>T (n.1717-11635A>T)
c.5596A>T (p.Thr1866Ser)
c.3583A>T (p.Thr1195Ser)
c.3133A>T (p.Thr1045Ser)
c.2341A>T (p.Thr781Ser)
8g.60850595C>ACA371321759CHD7c.5507C>A (p.Thr1836Lys)
c.1717-11634C>A (n.1717-11634C>A)
c.5597C>A (p.Thr1866Lys)
c.3584C>A (p.Thr1195Lys)
c.3134C>A (p.Thr1045Lys)
c.2342C>A (p.Thr781Lys)
8g.60850595C>GCA371321760CHD7c.5507C>G (p.Thr1836Arg)
c.1717-11634C>G (n.1717-11634C>G)
c.5597C>G (p.Thr1866Arg)
c.3584C>G (p.Thr1195Arg)
c.3134C>G (p.Thr1045Arg)
c.2342C>G (p.Thr781Arg)
 gnomAD v4
8g.60850595C>TCA371321761CHD7c.5507C>T (p.Thr1836Ile)
c.1717-11634C>T (n.1717-11634C>T)
c.5597C>T (p.Thr1866Ile)
c.3584C>T (p.Thr1195Ile)
c.3134C>T (p.Thr1045Ile)
c.2342C>T (p.Thr781Ile)
8g.60850596A>CCA460849011CHD7c.5508A>C (p.Thr1836=)
c.1717-11633A>C (n.1717-11633A>C)
c.5598A>C (p.Thr1866=)
c.3585A>C (p.Thr1195=)
c.3135A>C (p.Thr1045=)
c.2343A>C (p.Thr781=)
8g.60850596A>GCA460849013CHD7c.5508A>G (p.Thr1836=)
c.1717-11633A>G (n.1717-11633A>G)
c.5598A>G (p.Thr1866=)
c.3585A>G (p.Thr1195=)
c.3135A>G (p.Thr1045=)
c.2343A>G (p.Thr781=)
8g.60850596A>TCA460849015CHD7c.5508A>T (p.Thr1836=)
c.1717-11633A>T (n.1717-11633A>T)
c.5598A>T (p.Thr1866=)
c.3585A>T (p.Thr1195=)
c.3135A>T (p.Thr1045=)
c.2343A>T (p.Thr781=)
8g.60850597G>ACA371321762CHD7c.5509G>A (p.Asp1837Asn)
c.1717-11632G>A (n.1717-11632G>A)
c.5599G>A (p.Asp1867Asn)
c.3586G>A (p.Asp1196Asn)
c.3136G>A (p.Asp1046Asn)
c.2344G>A (p.Asp782Asn)
 dbSNP
8g.60850597G>CCA371321763CHD7c.5509G>C (p.Asp1837His)
c.1717-11632G>C (n.1717-11632G>C)
c.5599G>C (p.Asp1867His)
c.3586G>C (p.Asp1196His)
c.3136G>C (p.Asp1046His)
c.2344G>C (p.Asp782His)
8g.60850597G=CA1788137860CHD7c.5509G= (p.Asp1837=)
c.1717-11632G= (n.1717-11632G=)
c.5599G= (p.Asp1867=)
c.3586G= (p.Asp1196=)
c.3136G= (p.Asp1046=)
c.2344G= (p.Asp782=)
8g.60850597G>TCA371321764CHD7c.5509G>T (p.Asp1837Tyr)
c.1717-11632G>T (n.1717-11632G>T)
c.5599G>T (p.Asp1867Tyr)
c.3586G>T (p.Asp1196Tyr)
c.3136G>T (p.Asp1046Tyr)
c.2344G>T (p.Asp782Tyr)
8g.60850598_60850602dupCA2695209751CHD7c.5510_5514dup (p.Leu1839ThrfsTer3)
c.1717-11631_1717-11627dup (n.1717-11631_1717-11627dup)
c.5600_5604dup (p.Leu1869ThrfsTer3)
c.3587_3591dup (p.Leu1198ThrfsTer3)
c.3137_3141dup (p.Leu1048ThrfsTer3)
c.2345_2349dup (p.Leu784ThrfsTer3)
8g.60850598A>CCA371321765CHD7c.5510A>C (p.Asp1837Ala)
c.1717-11631A>C (n.1717-11631A>C)
c.5600A>C (p.Asp1867Ala)
c.3587A>C (p.Asp1196Ala)
c.3137A>C (p.Asp1046Ala)
c.2345A>C (p.Asp782Ala)
8g.60850598A>GCA371321766CHD7c.5510A>G (p.Asp1837Gly)
c.1717-11631A>G (n.1717-11631A>G)
c.5600A>G (p.Asp1867Gly)
c.3587A>G (p.Asp1196Gly)
c.3137A>G (p.Asp1046Gly)
c.2345A>G (p.Asp782Gly)
8g.60850598A>TCA371321767CHD7c.5510A>T (p.Asp1837Val)
c.1717-11631A>T (n.1717-11631A>T)
c.5600A>T (p.Asp1867Val)
c.3587A>T (p.Asp1196Val)
c.3137A>T (p.Asp1046Val)
c.2345A>T (p.Asp782Val)
8g.60850599C>ACA371321768CHD7c.5511C>A (p.Asp1837Glu)
c.1717-11630C>A (n.1717-11630C>A)
c.5601C>A (p.Asp1867Glu)
c.3588C>A (p.Asp1196Glu)
c.3138C>A (p.Asp1046Glu)
c.2346C>A (p.Asp782Glu)
8g.60850599C>GCA371321769CHD7c.5511C>G (p.Asp1837Glu)
c.1717-11630C>G (n.1717-11630C>G)
c.5601C>G (p.Asp1867Glu)
c.3588C>G (p.Asp1196Glu)
c.3138C>G (p.Asp1046Glu)
c.2346C>G (p.Asp782Glu)
8g.60850599C>TCA460849023CHD7c.5511C>T (p.Asp1837=)
c.1717-11630C>T (n.1717-11630C>T)
c.5601C>T (p.Asp1867=)
c.3588C>T (p.Asp1196=)
c.3138C>T (p.Asp1046=)
c.2346C>T (p.Asp782=)
8g.60850600A=CA1788137863CHD7c.5512A= (p.Met1838=)
c.1717-11629A= (n.1717-11629A=)
c.5602A= (p.Met1868=)
c.3589A= (p.Met1197=)
c.3139A= (p.Met1047=)
c.2347A= (p.Met783=)
8g.60850600A>CCA371321771CHD7c.5512A>C (p.Met1838Leu)
c.1717-11629A>C (n.1717-11629A>C)
c.5602A>C (p.Met1868Leu)
c.3589A>C (p.Met1197Leu)
c.3139A>C (p.Met1047Leu)
c.2347A>C (p.Met783Leu)
8g.60850600A>GCA4760382CHD7c.5512A>G (p.Met1838Val)
c.1717-11629A>G (n.1717-11629A>G)
c.5602A>G (p.Met1868Val)
c.3589A>G (p.Met1197Val)
c.3139A>G (p.Met1047Val)
c.2347A>G (p.Met783Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60850600A>TCA371321770CHD7c.5512A>T (p.Met1838Leu)
c.1717-11629A>T (n.1717-11629A>T)
c.5602A>T (p.Met1868Leu)
c.3589A>T (p.Met1197Leu)
c.3139A>T (p.Met1047Leu)
c.2347A>T (p.Met783Leu)
8g.60850601T>ACA371321772CHD7c.5513T>A (p.Met1838Lys)
c.1717-11628T>A (n.1717-11628T>A)
c.5603T>A (p.Met1868Lys)
c.3590T>A (p.Met1197Lys)
c.3140T>A (p.Met1047Lys)
c.2348T>A (p.Met783Lys)
8g.60850601T>CCA371321773CHD7c.5513T>C (p.Met1838Thr)
c.1717-11628T>C (n.1717-11628T>C)
c.5603T>C (p.Met1868Thr)
c.3590T>C (p.Met1197Thr)
c.3140T>C (p.Met1047Thr)
c.2348T>C (p.Met783Thr)
8g.60850601T>GCA371321774CHD7c.5513T>G (p.Met1838Arg)
c.1717-11628T>G (n.1717-11628T>G)
c.5603T>G (p.Met1868Arg)
c.3590T>G (p.Met1197Arg)
c.3140T>G (p.Met1047Arg)
c.2348T>G (p.Met783Arg)
8g.60850602G>ACA4760383CHD7c.5514G>A (p.Met1838Ile)
c.1717-11627G>A (n.1717-11627G>A)
c.5604G>A (p.Met1868Ile)
c.3591G>A (p.Met1197Ile)
c.3141G>A (p.Met1047Ile)
c.2349G>A (p.Met783Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60850602G>CCA371321777CHD7c.5514G>C (p.Met1838Ile)
c.1717-11627G>C (n.1717-11627G>C)
c.5604G>C (p.Met1868Ile)
c.3591G>C (p.Met1197Ile)
c.3141G>C (p.Met1047Ile)
c.2349G>C (p.Met783Ile)
8g.60850602G=CA1788137870CHD7c.5514G= (p.Met1838=)
c.1717-11627G= (n.1717-11627G=)
c.5604G= (p.Met1868=)
c.3591G= (p.Met1197=)
c.3141G= (p.Met1047=)
c.2349G= (p.Met783=)
8g.60850602G>TCA371321778CHD7c.5514G>T (p.Met1838Ile)
c.1717-11627G>T (n.1717-11627G>T)
c.5604G>T (p.Met1868Ile)
c.3591G>T (p.Met1197Ile)
c.3141G>T (p.Met1047Ile)
c.2349G>T (p.Met783Ile)
8g.60850603C>ACA371321780CHD7c.5515C>A (p.Leu1839Ile)
c.1717-11626C>A (n.1717-11626C>A)
c.5605C>A (p.Leu1869Ile)
c.3592C>A (p.Leu1198Ile)
c.3142C>A (p.Leu1048Ile)
c.2350C>A (p.Leu784Ile)
 gnomAD v4
8g.60850603C>GCA371321781CHD7c.5515C>G (p.Leu1839Val)
c.1717-11626C>G (n.1717-11626C>G)
c.5605C>G (p.Leu1869Val)
c.3592C>G (p.Leu1198Val)
c.3142C>G (p.Leu1048Val)
c.2350C>G (p.Leu784Val)
8g.60850603C>TCA460849033CHD7c.5515C>T (p.Leu1839=)
c.1717-11626C>T (n.1717-11626C>T)
c.5605C>T (p.Leu1869=)
c.3592C>T (p.Leu1198=)
c.3142C>T (p.Leu1048=)
c.2350C>T (p.Leu784=)
8g.60850604T>ACA371321782CHD7c.5516T>A (p.Leu1839Gln)
c.1717-11625T>A (n.1717-11625T>A)
c.5606T>A (p.Leu1869Gln)
c.3593T>A (p.Leu1198Gln)
c.3143T>A (p.Leu1048Gln)
c.2351T>A (p.Leu784Gln)
8g.60850604T>CCA371321783CHD7c.5516T>C (p.Leu1839Pro)
c.1717-11625T>C (n.1717-11625T>C)
c.5606T>C (p.Leu1869Pro)
c.3593T>C (p.Leu1198Pro)
c.3143T>C (p.Leu1048Pro)
c.2351T>C (p.Leu784Pro)
8g.60850604T>GCA371321784CHD7c.5516T>G (p.Leu1839Arg)
c.1717-11625T>G (n.1717-11625T>G)
c.5606T>G (p.Leu1869Arg)
c.3593T>G (p.Leu1198Arg)
c.3143T>G (p.Leu1048Arg)
c.2351T>G (p.Leu784Arg)
8g.60850605A>CCA460849037CHD7c.5517A>C (p.Leu1839=)
c.1717-11624A>C (n.1717-11624A>C)
c.5607A>C (p.Leu1869=)
c.3594A>C (p.Leu1198=)
c.3144A>C (p.Leu1048=)
c.2352A>C (p.Leu784=)
8g.60850605A>GCA460849038CHD7c.5517A>G (p.Leu1839=)
c.1717-11624A>G (n.1717-11624A>G)
c.5607A>G (p.Leu1869=)
c.3594A>G (p.Leu1198=)
c.3144A>G (p.Leu1048=)
c.2352A>G (p.Leu784=)
8g.60850605A>TCA460849039CHD7c.5517A>T (p.Leu1839=)
c.1717-11624A>T (n.1717-11624A>T)
c.5607A>T (p.Leu1869=)
c.3594A>T (p.Leu1198=)
c.3144A>T (p.Leu1048=)
c.2352A>T (p.Leu784=)
8g.60850606G>ACA371321789CHD7c.5518G>A (p.Ala1840Thr)
c.1717-11623G>A (n.1717-11623G>A)
c.5608G>A (p.Ala1870Thr)
c.3595G>A (p.Ala1199Thr)
c.3145G>A (p.Ala1049Thr)
c.2353G>A (p.Ala785Thr)
 gnomAD v4 COSMIC
8g.60850606G>CCA371321788CHD7c.5518G>C (p.Ala1840Pro)
c.1717-11623G>C (n.1717-11623G>C)
c.5608G>C (p.Ala1870Pro)
c.3595G>C (p.Ala1199Pro)
c.3145G>C (p.Ala1049Pro)
c.2353G>C (p.Ala785Pro)
 ClinVar gnomAD v4
8g.60850606G>TCA371321786CHD7c.5518G>T (p.Ala1840Ser)
c.1717-11623G>T (n.1717-11623G>T)
c.5608G>T (p.Ala1870Ser)
c.3595G>T (p.Ala1199Ser)
c.3145G>T (p.Ala1049Ser)
c.2353G>T (p.Ala785Ser)
8g.60850607C>ACA371321790CHD7c.5519C>A (p.Ala1840Glu)
c.1717-11622C>A (n.1717-11622C>A)
c.5609C>A (p.Ala1870Glu)
c.3596C>A (p.Ala1199Glu)
c.3146C>A (p.Ala1049Glu)
c.2354C>A (p.Ala785Glu)
8g.60850607C=CA1788137874CHD7c.5519C= (p.Ala1840=)
c.1717-11622C= (n.1717-11622C=)
c.5609C= (p.Ala1870=)
c.3596C= (p.Ala1199=)
c.3146C= (p.Ala1049=)
c.2354C= (p.Ala785=)
8g.60850607C>GCA371321792CHD7c.5519C>G (p.Ala1840Gly)
c.1717-11622C>G (n.1717-11622C>G)
c.5609C>G (p.Ala1870Gly)
c.3596C>G (p.Ala1199Gly)
c.3146C>G (p.Ala1049Gly)
c.2354C>G (p.Ala785Gly)
8g.60850607C>TCA371321793CHD7c.5519C>T (p.Ala1840Val)
c.1717-11622C>T (n.1717-11622C>T)
c.5609C>T (p.Ala1870Val)
c.3596C>T (p.Ala1199Val)
c.3146C>T (p.Ala1049Val)
c.2354C>T (p.Ala785Val)
 dbSNP gnomAD v2 gnomAD v4
8g.60850608A>CCA460849047CHD7c.5520A>C (p.Ala1840=)
c.1717-11621A>C (n.1717-11621A>C)
c.5610A>C (p.Ala1870=)
c.3597A>C (p.Ala1199=)
c.3147A>C (p.Ala1049=)
c.2355A>C (p.Ala785=)
8g.60850608A>GCA460849049CHD7c.5520A>G (p.Ala1840=)
c.1717-11621A>G (n.1717-11621A>G)
c.5610A>G (p.Ala1870=)
c.3597A>G (p.Ala1199=)
c.3147A>G (p.Ala1049=)
c.2355A>G (p.Ala785=)
 ClinVar dbSNP gnomAD v4
8g.60850608A>TCA460849051CHD7c.5520A>T (p.Ala1840=)
c.1717-11621A>T (n.1717-11621A>T)
c.5610A>T (p.Ala1870=)
c.3597A>T (p.Ala1199=)
c.3147A>T (p.Ala1049=)
c.2355A>T (p.Ala785=)
8g.60850609G>ACA371321794CHD7c.5521G>A (p.Asp1841Asn)
c.1717-11620G>A (n.1717-11620G>A)
c.5611G>A (p.Asp1871Asn)
c.3598G>A (p.Asp1200Asn)
c.3148G>A (p.Asp1050Asn)
c.2356G>A (p.Asp786Asn)
 gnomAD v4
8g.60850609G>CCA371321796CHD7c.5521G>C (p.Asp1841His)
c.1717-11620G>C (n.1717-11620G>C)
c.5611G>C (p.Asp1871His)
c.3598G>C (p.Asp1200His)
c.3148G>C (p.Asp1050His)
c.2356G>C (p.Asp786His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.60850609G=CA1788137876CHD7c.5521G= (p.Asp1841=)
c.1717-11620G= (n.1717-11620G=)
c.5611G= (p.Asp1871=)
c.3598G= (p.Asp1200=)
c.3148G= (p.Asp1050=)
c.2356G= (p.Asp786=)
8g.60850609G>TCA371321797CHD7c.5521G>T (p.Asp1841Tyr)
c.1717-11620G>T (n.1717-11620G>T)
c.5611G>T (p.Asp1871Tyr)
c.3598G>T (p.Asp1200Tyr)
c.3148G>T (p.Asp1050Tyr)
c.2356G>T (p.Asp786Tyr)
8g.60850610A=CA1788137878CHD7c.5522A= (p.Asp1841=)
c.1717-11619A= (n.1717-11619A=)
c.5612A= (p.Asp1871=)
c.3599A= (p.Asp1200=)
c.3149A= (p.Asp1050=)
c.2357A= (p.Asp786=)
8g.60850610A>CCA371321799CHD7c.5522A>C (p.Asp1841Ala)
c.1717-11619A>C (n.1717-11619A>C)
c.5612A>C (p.Asp1871Ala)
c.3599A>C (p.Asp1200Ala)
c.3149A>C (p.Asp1050Ala)
c.2357A>C (p.Asp786Ala)
8g.60850610A>GCA371321800CHD7c.5522A>G (p.Asp1841Gly)
c.1717-11619A>G (n.1717-11619A>G)
c.5612A>G (p.Asp1871Gly)
c.3599A>G (p.Asp1200Gly)
c.3149A>G (p.Asp1050Gly)
c.2357A>G (p.Asp786Gly)
8g.60850610A>TCA371321801CHD7c.5522A>T (p.Asp1841Val)
c.1717-11619A>T (n.1717-11619A>T)
c.5612A>T (p.Asp1871Val)
c.3599A>T (p.Asp1200Val)
c.3149A>T (p.Asp1050Val)
c.2357A>T (p.Asp786Val)
 dbSNP
8g.60850611T>ACA371321802CHD7c.5523T>A (p.Asp1841Glu)
c.1717-11618T>A (n.1717-11618T>A)
c.5613T>A (p.Asp1871Glu)
c.3600T>A (p.Asp1200Glu)
c.3150T>A (p.Asp1050Glu)
c.2358T>A (p.Asp786Glu)
8g.60850611T>CCA4760384CHD7c.5523T>C (p.Asp1841=)
c.1717-11618T>C (n.1717-11618T>C)
c.5613T>C (p.Asp1871=)
c.3600T>C (p.Asp1200=)
c.3150T>C (p.Asp1050=)
c.2358T>C (p.Asp786=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60850611T>GCA371321805CHD7c.5523T>G (p.Asp1841Glu)
c.1717-11618T>G (n.1717-11618T>G)
c.5613T>G (p.Asp1871Glu)
c.3600T>G (p.Asp1200Glu)
c.3150T>G (p.Asp1050Glu)
c.2358T>G (p.Asp786Glu)
8g.60850611T=CA1788137880CHD7c.5523T= (p.Asp1841=)
c.1717-11618T= (n.1717-11618T=)
c.5613T= (p.Asp1871=)
c.3600T= (p.Asp1200=)
c.3150T= (p.Asp1050=)
c.2358T= (p.Asp786=)
8g.60850612G>ACA371321808CHD7c.5524G>A (p.Gly1842Ser)
c.1717-11617G>A (n.1717-11617G>A)
c.5614G>A (p.Gly1872Ser)
c.3601G>A (p.Gly1201Ser)
c.3151G>A (p.Gly1051Ser)
c.2359G>A (p.Gly787Ser)
8g.60850612G>CCA371321807CHD7c.5524G>C (p.Gly1842Arg)
c.1717-11617G>C (n.1717-11617G>C)
c.5614G>C (p.Gly1872Arg)
c.3601G>C (p.Gly1201Arg)
c.3151G>C (p.Gly1051Arg)
c.2359G>C (p.Gly787Arg)
8g.60850612G>TCA371321806CHD7c.5524G>T (p.Gly1842Cys)
c.1717-11617G>T (n.1717-11617G>T)
c.5614G>T (p.Gly1872Cys)
c.3601G>T (p.Gly1201Cys)
c.3151G>T (p.Gly1051Cys)
c.2359G>T (p.Gly787Cys)
8g.60850613G>ACA371321809CHD7c.5525G>A (p.Gly1842Asp)
c.1717-11616G>A (n.1717-11616G>A)
c.5615G>A (p.Gly1872Asp)
c.3602G>A (p.Gly1201Asp)
c.3152G>A (p.Gly1051Asp)
c.2360G>A (p.Gly787Asp)
 gnomAD v4
8g.60850613G>CCA371321811CHD7c.5525G>C (p.Gly1842Ala)
c.1717-11616G>C (n.1717-11616G>C)
c.5615G>C (p.Gly1872Ala)
c.3602G>C (p.Gly1201Ala)
c.3152G>C (p.Gly1051Ala)
c.2360G>C (p.Gly787Ala)
8g.60850613G>TCA371321812CHD7c.5525G>T (p.Gly1842Val)
c.1717-11616G>T (n.1717-11616G>T)
c.5615G>T (p.Gly1872Val)
c.3602G>T (p.Gly1201Val)
c.3152G>T (p.Gly1051Val)
c.2360G>T (p.Gly787Val)
8g.60850614T>ACA460849069CHD7c.5526T>A (p.Gly1842=)
c.1717-11615T>A (n.1717-11615T>A)
c.5616T>A (p.Gly1872=)
c.3603T>A (p.Gly1201=)
c.3153T>A (p.Gly1051=)
c.2361T>A (p.Gly787=)
8g.60850614T>CCA460849067CHD7c.5526T>C (p.Gly1842=)
c.1717-11615T>C (n.1717-11615T>C)
c.5616T>C (p.Gly1872=)
c.3603T>C (p.Gly1201=)
c.3153T>C (p.Gly1051=)
c.2361T>C (p.Gly787=)
8g.60850614T>GCA460849066CHD7c.5526T>G (p.Gly1842=)
c.1717-11615T>G (n.1717-11615T>G)
c.5616T>G (p.Gly1872=)
c.3603T>G (p.Gly1201=)
c.3153T>G (p.Gly1051=)
c.2361T>G (p.Gly787=)

Number of alleles fetched