Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.60865386T>ACA371309477CHD7n.1623T>A
n.554T>A
c.*1506T>A (n.*1506T>A)
c.8447T>A (p.Leu2816Ter)
c.2300T>A (p.Leu767Ter)
n.493T>A
c.8537T>A (p.Leu2846Ter)
c.8534T>A (p.Leu2845Ter)
c.8315T>A (p.Leu2772Ter)
c.6524T>A (p.Leu2175Ter)
c.6074T>A (p.Leu2025Ter)
c.5282T>A (p.Leu1761Ter)
c.8444T>A (p.Leu2815Ter)
8g.60865386T>CCA371309472CHD7n.1623T>C
n.554T>C
c.*1506T>C (n.*1506T>C)
c.8447T>C (p.Leu2816Ser)
c.2300T>C (p.Leu767Ser)
n.493T>C
c.8537T>C (p.Leu2846Ser)
c.8534T>C (p.Leu2845Ser)
c.8315T>C (p.Leu2772Ser)
c.6524T>C (p.Leu2175Ser)
c.6074T>C (p.Leu2025Ser)
c.5282T>C (p.Leu1761Ser)
c.8444T>C (p.Leu2815Ser)
8g.60865386T>GCA371309468CHD7n.1623T>G
n.554T>G
c.*1506T>G (n.*1506T>G)
c.8447T>G (p.Leu2816Trp)
c.2300T>G (p.Leu767Trp)
n.493T>G
c.8537T>G (p.Leu2846Trp)
c.8534T>G (p.Leu2845Trp)
c.8315T>G (p.Leu2772Trp)
c.6524T>G (p.Leu2175Trp)
c.6074T>G (p.Leu2025Trp)
c.5282T>G (p.Leu1761Trp)
c.8444T>G (p.Leu2815Trp)
8g.60865387G>ACA461106040CHD7n.1624G>A
n.555G>A
c.*1507G>A (n.*1507G>A)
c.8448G>A (p.Leu2816=)
c.2301G>A (p.Leu767=)
n.494G>A
c.8538G>A (p.Leu2846=)
c.8535G>A (p.Leu2845=)
c.8316G>A (p.Leu2772=)
c.6525G>A (p.Leu2175=)
c.6075G>A (p.Leu2025=)
c.5283G>A (p.Leu1761=)
c.8445G>A (p.Leu2815=)
8g.60865387G>CCA371309482CHD7n.1624G>C
n.555G>C
c.*1507G>C (n.*1507G>C)
c.8448G>C (p.Leu2816Phe)
c.2301G>C (p.Leu767Phe)
n.494G>C
c.8538G>C (p.Leu2846Phe)
c.8535G>C (p.Leu2845Phe)
c.8316G>C (p.Leu2772Phe)
c.6525G>C (p.Leu2175Phe)
c.6075G>C (p.Leu2025Phe)
c.5283G>C (p.Leu1761Phe)
c.8445G>C (p.Leu2815Phe)
8g.60865387G>TCA371309485CHD7n.1624G>T
n.555G>T
c.*1507G>T (n.*1507G>T)
c.8448G>T (p.Leu2816Phe)
c.2301G>T (p.Leu767Phe)
n.494G>T
c.8538G>T (p.Leu2846Phe)
c.8535G>T (p.Leu2845Phe)
c.8316G>T (p.Leu2772Phe)
c.6525G>T (p.Leu2175Phe)
c.6075G>T (p.Leu2025Phe)
c.5283G>T (p.Leu1761Phe)
c.8445G>T (p.Leu2815Phe)
8g.60865388A>CCA371309490CHD7n.1625A>C
n.556A>C
c.*1508A>C (n.*1508A>C)
c.8449A>C (p.Asn2817His)
c.2302A>C (p.Asn768His)
n.495A>C
c.8539A>C (p.Asn2847His)
c.8536A>C (p.Asn2846His)
c.8317A>C (p.Asn2773His)
c.6526A>C (p.Asn2176His)
c.6076A>C (p.Asn2026His)
c.5284A>C (p.Asn1762His)
c.8446A>C (p.Asn2816His)
8g.60865388A>GCA371309494CHD7n.1625A>G
n.556A>G
c.*1508A>G (n.*1508A>G)
c.8449A>G (p.Asn2817Asp)
c.2302A>G (p.Asn768Asp)
n.495A>G
c.8539A>G (p.Asn2847Asp)
c.8536A>G (p.Asn2846Asp)
c.8317A>G (p.Asn2773Asp)
c.6526A>G (p.Asn2176Asp)
c.6076A>G (p.Asn2026Asp)
c.5284A>G (p.Asn1762Asp)
c.8446A>G (p.Asn2816Asp)
8g.60865388A>TCA371309500CHD7n.1625A>T
n.556A>T
c.*1508A>T (n.*1508A>T)
c.8449A>T (p.Asn2817Tyr)
c.2302A>T (p.Asn768Tyr)
n.495A>T
c.8539A>T (p.Asn2847Tyr)
c.8536A>T (p.Asn2846Tyr)
c.8317A>T (p.Asn2773Tyr)
c.6526A>T (p.Asn2176Tyr)
c.6076A>T (p.Asn2026Tyr)
c.5284A>T (p.Asn1762Tyr)
c.8446A>T (p.Asn2816Tyr)
8g.60865389A>CCA371309506CHD7n.1626A>C
n.557A>C
c.*1509A>C (n.*1509A>C)
c.8450A>C (p.Asn2817Thr)
c.2303A>C (p.Asn768Thr)
n.496A>C
c.8540A>C (p.Asn2847Thr)
c.8537A>C (p.Asn2846Thr)
c.8318A>C (p.Asn2773Thr)
c.6527A>C (p.Asn2176Thr)
c.6077A>C (p.Asn2026Thr)
c.5285A>C (p.Asn1762Thr)
c.8447A>C (p.Asn2816Thr)
8g.60865389A>GCA371309512CHD7n.1626A>G
n.557A>G
c.*1509A>G (n.*1509A>G)
c.8450A>G (p.Asn2817Ser)
c.2303A>G (p.Asn768Ser)
n.496A>G
c.8540A>G (p.Asn2847Ser)
c.8537A>G (p.Asn2846Ser)
c.8318A>G (p.Asn2773Ser)
c.6527A>G (p.Asn2176Ser)
c.6077A>G (p.Asn2026Ser)
c.5285A>G (p.Asn1762Ser)
c.8447A>G (p.Asn2816Ser)
 gnomAD v4 COSMIC
8g.60865389A>TCA371309516CHD7n.1626A>T
n.557A>T
c.*1509A>T (n.*1509A>T)
c.8450A>T (p.Asn2817Ile)
c.2303A>T (p.Asn768Ile)
n.496A>T
c.8540A>T (p.Asn2847Ile)
c.8537A>T (p.Asn2846Ile)
c.8318A>T (p.Asn2773Ile)
c.6527A>T (p.Asn2176Ile)
c.6077A>T (p.Asn2026Ile)
c.5285A>T (p.Asn1762Ile)
c.8447A>T (p.Asn2816Ile)
 COSMIC
8g.60865390T>ACA371309523CHD7n.1627T>A
n.558T>A
c.*1510T>A (n.*1510T>A)
c.8451T>A (p.Asn2817Lys)
c.2304T>A (p.Asn768Lys)
n.497T>A
c.8541T>A (p.Asn2847Lys)
c.8538T>A (p.Asn2846Lys)
c.8319T>A (p.Asn2773Lys)
c.6528T>A (p.Asn2176Lys)
c.6078T>A (p.Asn2026Lys)
c.5286T>A (p.Asn1762Lys)
c.8448T>A (p.Asn2816Lys)
8g.60865390T>CCA461106049CHD7n.1627T>C
n.558T>C
c.*1510T>C (n.*1510T>C)
c.8451T>C (p.Asn2817=)
c.2304T>C (p.Asn768=)
n.497T>C
c.8541T>C (p.Asn2847=)
c.8538T>C (p.Asn2846=)
c.8319T>C (p.Asn2773=)
c.6528T>C (p.Asn2176=)
c.6078T>C (p.Asn2026=)
c.5286T>C (p.Asn1762=)
c.8448T>C (p.Asn2816=)
 gnomAD v4
8g.60865390T>GCA371309538CHD7n.1627T>G
n.558T>G
c.*1510T>G (n.*1510T>G)
c.8451T>G (p.Asn2817Lys)
c.2304T>G (p.Asn768Lys)
n.497T>G
c.8541T>G (p.Asn2847Lys)
c.8538T>G (p.Asn2846Lys)
c.8319T>G (p.Asn2773Lys)
c.6528T>G (p.Asn2176Lys)
c.6078T>G (p.Asn2026Lys)
c.5286T>G (p.Asn1762Lys)
c.8448T>G (p.Asn2816Lys)
8g.60865390T=CA1788130218CHD7n.1627T=
n.558T=
c.*1510T= (n.*1510T=)
c.8451T= (p.Asn2817=)
c.2304T= (p.Asn768=)
n.497T=
c.8541T= (p.Asn2847=)
c.8538T= (p.Asn2846=)
c.8319T= (p.Asn2773=)
c.6528T= (p.Asn2176=)
c.6078T= (p.Asn2026=)
c.5286T= (p.Asn1762=)
c.8448T= (p.Asn2816=)
8g.60865391_60865398dupCA2695203182CHD7n.1628_1635dup
n.559_566dup
c.*1511_*1518dup (n.*1511_*1518dup)
c.8452_8459dup (p.Ser2821ThrfsTer?)
c.2305_2312dup (p.Ser772ThrfsTer?)
n.498_505dup
c.8542_8549dup (p.Ser2851ThrfsTer?)
c.8539_8546dup (p.Ser2850ThrfsTer?)
c.8320_8327dup (p.Ser2777ThrfsTer?)
c.6529_6536dup (p.Ser2180ThrfsTer?)
c.6079_6086dup (p.Ser2030ThrfsTer?)
c.5287_5294dup (p.Ser1766ThrfsTer?)
c.8449_8456dup (p.Ser2820ThrfsTer?)
8g.60865391A>CCA371309544CHD7n.1628A>C
n.559A>C
c.*1511A>C (n.*1511A>C)
c.8452A>C (p.Asn2818His)
c.2305A>C (p.Asn769His)
n.498A>C
c.8542A>C (p.Asn2848His)
c.8539A>C (p.Asn2847His)
c.8320A>C (p.Asn2774His)
c.6529A>C (p.Asn2177His)
c.6079A>C (p.Asn2027His)
c.5287A>C (p.Asn1763His)
c.8449A>C (p.Asn2817His)
8g.60865391A>GCA371309549CHD7n.1628A>G
n.559A>G
c.*1511A>G (n.*1511A>G)
c.8452A>G (p.Asn2818Asp)
c.2305A>G (p.Asn769Asp)
n.498A>G
c.8542A>G (p.Asn2848Asp)
c.8539A>G (p.Asn2847Asp)
c.8320A>G (p.Asn2774Asp)
c.6529A>G (p.Asn2177Asp)
c.6079A>G (p.Asn2027Asp)
c.5287A>G (p.Asn1763Asp)
c.8449A>G (p.Asn2817Asp)
 gnomAD v4
8g.60865391A>TCA371309552CHD7n.1628A>T
n.559A>T
c.*1511A>T (n.*1511A>T)
c.8452A>T (p.Asn2818Tyr)
c.2305A>T (p.Asn769Tyr)
n.498A>T
c.8542A>T (p.Asn2848Tyr)
c.8539A>T (p.Asn2847Tyr)
c.8320A>T (p.Asn2774Tyr)
c.6529A>T (p.Asn2177Tyr)
c.6079A>T (p.Asn2027Tyr)
c.5287A>T (p.Asn1763Tyr)
c.8449A>T (p.Asn2817Tyr)
8g.60865391_60865393dupCA582403679CHD7n.1628_1630dup
n.559_561dup
c.*1511_*1513dup (n.*1511_*1513dup)
c.8452_8454dup (p.Asn2818_Pro2819insAsn)
c.2305_2307dup (p.Asn769_Pro770insAsn)
n.498_500dup
c.8542_8544dup (p.Asn2848_Pro2849insAsn)
c.8539_8541dup (p.Asn2847_Pro2848insAsn)
c.8320_8322dup (p.Asn2774_Pro2775insAsn)
c.6529_6531dup (p.Asn2177_Pro2178insAsn)
c.6079_6081dup (p.Asn2027_Pro2028insAsn)
c.5287_5289dup (p.Asn1763_Pro1764insAsn)
c.8449_8451dup (p.Asn2817_Pro2818insAsn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60865392_60865402dupCA275232CHD7n.1629_1639dup
n.560_570dup
c.*1512_*1522dup (n.*1512_*1522dup)
c.8453_8463dup (p.Ala2822ThrfsTer?)
c.2306_2316dup (p.Ala773ThrfsTer?)
n.499_509dup
c.8543_8553dup (p.Ala2852ThrfsTer?)
c.8540_8550dup (p.Ala2851ThrfsTer?)
c.8321_8331dup (p.Ala2778ThrfsTer?)
c.6530_6540dup (p.Ala2181ThrfsTer?)
c.6080_6090dup (p.Ala2031ThrfsTer?)
c.5288_5298dup (p.Ala1767ThrfsTer?)
c.8450_8460dup (p.Ala2821ThrfsTer?)
 ClinVar dbSNP
8g.60865392A=CA1788130238CHD7n.1629A=
n.560A=
c.*1512A= (n.*1512A=)
c.8453A= (p.Asn2818=)
c.2306A= (p.Asn769=)
n.499A=
c.8543A= (p.Asn2848=)
c.8540A= (p.Asn2847=)
c.8321A= (p.Asn2774=)
c.6530A= (p.Asn2177=)
c.6080A= (p.Asn2027=)
c.5288A= (p.Asn1763=)
c.8450A= (p.Asn2817=)
8g.60865392A>CCA371309562CHD7n.1629A>C
n.560A>C
c.*1512A>C (n.*1512A>C)
c.8453A>C (p.Asn2818Thr)
c.2306A>C (p.Asn769Thr)
n.499A>C
c.8543A>C (p.Asn2848Thr)
c.8540A>C (p.Asn2847Thr)
c.8321A>C (p.Asn2774Thr)
c.6530A>C (p.Asn2177Thr)
c.6080A>C (p.Asn2027Thr)
c.5288A>C (p.Asn1763Thr)
c.8450A>C (p.Asn2817Thr)
 dbSNP
8g.60865392A>GCA4761019CHD7n.1629A>G
n.560A>G
c.*1512A>G (n.*1512A>G)
c.8453A>G (p.Asn2818Ser)
c.2306A>G (p.Asn769Ser)
n.499A>G
c.8543A>G (p.Asn2848Ser)
c.8540A>G (p.Asn2847Ser)
c.8321A>G (p.Asn2774Ser)
c.6530A>G (p.Asn2177Ser)
c.6080A>G (p.Asn2027Ser)
c.5288A>G (p.Asn1763Ser)
c.8450A>G (p.Asn2817Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60865392A>TCA371309558CHD7n.1629A>T
n.560A>T
c.*1512A>T (n.*1512A>T)
c.8453A>T (p.Asn2818Ile)
c.2306A>T (p.Asn769Ile)
n.499A>T
c.8543A>T (p.Asn2848Ile)
c.8540A>T (p.Asn2847Ile)
c.8321A>T (p.Asn2774Ile)
c.6530A>T (p.Asn2177Ile)
c.6080A>T (p.Asn2027Ile)
c.5288A>T (p.Asn1763Ile)
c.8450A>T (p.Asn2817Ile)
8g.60865393C>ACA371309568CHD7n.1630C>A
n.561C>A
c.*1513C>A (n.*1513C>A)
c.8454C>A (p.Asn2818Lys)
c.2307C>A (p.Asn769Lys)
n.500C>A
c.8544C>A (p.Asn2848Lys)
c.8541C>A (p.Asn2847Lys)
c.8322C>A (p.Asn2774Lys)
c.6531C>A (p.Asn2177Lys)
c.6081C>A (p.Asn2027Lys)
c.5289C>A (p.Asn1763Lys)
c.8451C>A (p.Asn2817Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.60865393C=CA1788130248CHD7n.1630C=
n.561C=
c.*1513C= (n.*1513C=)
c.8454C= (p.Asn2818=)
c.2307C= (p.Asn769=)
n.500C=
c.8544C= (p.Asn2848=)
c.8541C= (p.Asn2847=)
c.8322C= (p.Asn2774=)
c.6531C= (p.Asn2177=)
c.6081C= (p.Asn2027=)
c.5289C= (p.Asn1763=)
c.8451C= (p.Asn2817=)
8g.60865393C>GCA371309570CHD7n.1630C>G
n.561C>G
c.*1513C>G (n.*1513C>G)
c.8454C>G (p.Asn2818Lys)
c.2307C>G (p.Asn769Lys)
n.500C>G
c.8544C>G (p.Asn2848Lys)
c.8541C>G (p.Asn2847Lys)
c.8322C>G (p.Asn2774Lys)
c.6531C>G (p.Asn2177Lys)
c.6081C>G (p.Asn2027Lys)
c.5289C>G (p.Asn1763Lys)
c.8451C>G (p.Asn2817Lys)
 dbSNP gnomAD v3 gnomAD v4
8g.60865393C>TCA461106053CHD7n.1630C>T
n.561C>T
c.*1513C>T (n.*1513C>T)
c.8454C>T (p.Asn2818=)
c.2307C>T (p.Asn769=)
n.500C>T
c.8544C>T (p.Asn2848=)
c.8541C>T (p.Asn2847=)
c.8322C>T (p.Asn2774=)
c.6531C>T (p.Asn2177=)
c.6081C>T (p.Asn2027=)
c.5289C>T (p.Asn1763=)
c.8451C>T (p.Asn2817=)
 ClinVar gnomAD v4
8g.60865395delCA2573053046CHD7n.1632del
n.563del
c.*1515del (n.*1515del)
c.8456del (p.Pro2819LeufsTer?)
c.2309del (p.Pro770LeufsTer?)
n.502del
c.8546del (p.Pro2849LeufsTer?)
c.8543del (p.Pro2848LeufsTer?)
c.8324del (p.Pro2775LeufsTer?)
c.6533del (p.Pro2178LeufsTer?)
c.6083del (p.Pro2028LeufsTer?)
c.5291del (p.Pro1764LeufsTer?)
c.8453del (p.Pro2818LeufsTer?)
 ClinVar dbSNP
8g.60865394C>ACA371309577CHD7n.1631C>A
n.562C>A
c.*1514C>A (n.*1514C>A)
c.8455C>A (p.Pro2819Thr)
c.2308C>A (p.Pro770Thr)
n.501C>A
c.8545C>A (p.Pro2849Thr)
c.8542C>A (p.Pro2848Thr)
c.8323C>A (p.Pro2775Thr)
c.6532C>A (p.Pro2178Thr)
c.6082C>A (p.Pro2028Thr)
c.5290C>A (p.Pro1764Thr)
c.8452C>A (p.Pro2818Thr)
8g.60865394C>GCA371309581CHD7n.1631C>G
n.562C>G
c.*1514C>G (n.*1514C>G)
c.8455C>G (p.Pro2819Ala)
c.2308C>G (p.Pro770Ala)
n.501C>G
c.8545C>G (p.Pro2849Ala)
c.8542C>G (p.Pro2848Ala)
c.8323C>G (p.Pro2775Ala)
c.6532C>G (p.Pro2178Ala)
c.6082C>G (p.Pro2028Ala)
c.5290C>G (p.Pro1764Ala)
c.8452C>G (p.Pro2818Ala)
8g.60865394C>TCA371309584CHD7n.1631C>T
n.562C>T
c.*1514C>T (n.*1514C>T)
c.8455C>T (p.Pro2819Ser)
c.2308C>T (p.Pro770Ser)
n.501C>T
c.8545C>T (p.Pro2849Ser)
c.8542C>T (p.Pro2848Ser)
c.8323C>T (p.Pro2775Ser)
c.6532C>T (p.Pro2178Ser)
c.6082C>T (p.Pro2028Ser)
c.5290C>T (p.Pro1764Ser)
c.8452C>T (p.Pro2818Ser)
 gnomAD v4 COSMIC
8g.60865394_60865396delinsCCTCA1788130256CHD7n.1631_1633delinsCCT
n.562_564delinsCCT
c.*1514_*1516delinsCCT (n.*1514_*1516delinsCCT)
c.8455_8457delinsCCT (p.Pro2819=)
c.2308_2310delinsCCT (p.Pro770=)
n.501_503delinsCCT
c.8545_8547delinsCCT (p.Pro2849=)
c.8542_8544delinsCCT (p.Pro2848=)
c.8323_8325delinsCCT (p.Pro2775=)
c.6532_6534delinsCCT (p.Pro2178=)
c.6082_6084delinsCCT (p.Pro2028=)
c.5290_5292delinsCCT (p.Pro1764=)
c.8452_8454delinsCCT (p.Pro2818=)
8g.60865395C>ACA371309591CHD7n.1632C>A
n.563C>A
c.*1515C>A (n.*1515C>A)
c.8456C>A (p.Pro2819His)
c.2309C>A (p.Pro770His)
n.502C>A
c.8546C>A (p.Pro2849His)
c.8543C>A (p.Pro2848His)
c.8324C>A (p.Pro2775His)
c.6533C>A (p.Pro2178His)
c.6083C>A (p.Pro2028His)
c.5291C>A (p.Pro1764His)
c.8453C>A (p.Pro2818His)
8g.60865395C>GCA371309594CHD7n.1632C>G
n.563C>G
c.*1515C>G (n.*1515C>G)
c.8456C>G (p.Pro2819Arg)
c.2309C>G (p.Pro770Arg)
n.502C>G
c.8546C>G (p.Pro2849Arg)
c.8543C>G (p.Pro2848Arg)
c.8324C>G (p.Pro2775Arg)
c.6533C>G (p.Pro2178Arg)
c.6083C>G (p.Pro2028Arg)
c.5291C>G (p.Pro1764Arg)
c.8453C>G (p.Pro2818Arg)
 gnomAD v4
8g.60865395C>TCA371309603CHD7n.1632C>T
n.563C>T
c.*1515C>T (n.*1515C>T)
c.8456C>T (p.Pro2819Leu)
c.2309C>T (p.Pro770Leu)
n.502C>T
c.8546C>T (p.Pro2849Leu)
c.8543C>T (p.Pro2848Leu)
c.8324C>T (p.Pro2775Leu)
c.6533C>T (p.Pro2178Leu)
c.6083C>T (p.Pro2028Leu)
c.5291C>T (p.Pro1764Leu)
c.8453C>T (p.Pro2818Leu)
8g.60865397_60865398dupCA2695203183CHD7n.1634_1635dup
n.565_566dup
c.*1517_*1518dup (n.*1517_*1518dup)
c.8458_8459dup (p.Ser2821CysfsTer?)
c.2311_2312dup (p.Ser772CysfsTer?)
n.504_505dup
c.8548_8549dup (p.Ser2851CysfsTer?)
c.8545_8546dup (p.Ser2850CysfsTer?)
c.8326_8327dup (p.Ser2777CysfsTer?)
c.6535_6536dup (p.Ser2180CysfsTer?)
c.6085_6086dup (p.Ser2030CysfsTer?)
c.5293_5294dup (p.Ser1766CysfsTer?)
c.8455_8456dup (p.Ser2820CysfsTer?)
8g.60865397_60865398delCA10602479CHD7n.1634_1635del
n.565_566del
c.*1517_*1518del (n.*1517_*1518del)
c.8458_8459del (p.Leu2820ValfsTer12)
c.2311_2312del (p.Leu771ValfsTer12)
n.504_505del
c.8548_8549del (p.Leu2850ValfsTer12)
c.8545_8546del (p.Leu2849ValfsTer12)
c.8326_8327del (p.Leu2776ValfsTer12)
c.6535_6536del (p.Leu2179ValfsTer12)
c.6085_6086del (p.Leu2029ValfsTer12)
c.5293_5294del (p.Leu1765ValfsTer12)
c.8455_8456del (p.Leu2819ValfsTer12)
 ClinVar dbSNP
8g.60865396T>ACA461106058CHD7n.1633T>A
n.564T>A
c.*1516T>A (n.*1516T>A)
c.8457T>A (p.Pro2819=)
c.2310T>A (p.Pro770=)
n.503T>A
c.8547T>A (p.Pro2849=)
c.8544T>A (p.Pro2848=)
c.8325T>A (p.Pro2775=)
c.6534T>A (p.Pro2178=)
c.6084T>A (p.Pro2028=)
c.5292T>A (p.Pro1764=)
c.8454T>A (p.Pro2818=)
8g.60865396T>CCA461106059CHD7n.1633T>C
n.564T>C
c.*1516T>C (n.*1516T>C)
c.8457T>C (p.Pro2819=)
c.2310T>C (p.Pro770=)
n.503T>C
c.8547T>C (p.Pro2849=)
c.8544T>C (p.Pro2848=)
c.8325T>C (p.Pro2775=)
c.6534T>C (p.Pro2178=)
c.6084T>C (p.Pro2028=)
c.5292T>C (p.Pro1764=)
c.8454T>C (p.Pro2818=)
8g.60865396T>GCA461106060CHD7n.1633T>G
n.564T>G
c.*1516T>G (n.*1516T>G)
c.8457T>G (p.Pro2819=)
c.2310T>G (p.Pro770=)
n.503T>G
c.8547T>G (p.Pro2849=)
c.8544T>G (p.Pro2848=)
c.8325T>G (p.Pro2775=)
c.6534T>G (p.Pro2178=)
c.6084T>G (p.Pro2028=)
c.5292T>G (p.Pro1764=)
c.8454T>G (p.Pro2818=)
8g.60865397C>ACA371309609CHD7n.1634C>A
n.565C>A
c.*1517C>A (n.*1517C>A)
c.8458C>A (p.Leu2820Met)
c.2311C>A (p.Leu771Met)
n.504C>A
c.8548C>A (p.Leu2850Met)
c.8545C>A (p.Leu2849Met)
c.8326C>A (p.Leu2776Met)
c.6535C>A (p.Leu2179Met)
c.6085C>A (p.Leu2029Met)
c.5293C>A (p.Leu1765Met)
c.8455C>A (p.Leu2819Met)
8g.60865397C=CA1788130270CHD7n.1634C=
n.565C=
c.*1517C= (n.*1517C=)
c.8458C= (p.Leu2820=)
c.2311C= (p.Leu771=)
n.504C=
c.8548C= (p.Leu2850=)
c.8545C= (p.Leu2849=)
c.8326C= (p.Leu2776=)
c.6535C= (p.Leu2179=)
c.6085C= (p.Leu2029=)
c.5293C= (p.Leu1765=)
c.8455C= (p.Leu2819=)
8g.60865397C>GCA371309613CHD7n.1634C>G
n.565C>G
c.*1517C>G (n.*1517C>G)
c.8458C>G (p.Leu2820Val)
c.2311C>G (p.Leu771Val)
n.504C>G
c.8548C>G (p.Leu2850Val)
c.8545C>G (p.Leu2849Val)
c.8326C>G (p.Leu2776Val)
c.6535C>G (p.Leu2179Val)
c.6085C>G (p.Leu2029Val)
c.5293C>G (p.Leu1765Val)
c.8455C>G (p.Leu2819Val)
8g.60865397C>TCA461106061CHD7n.1634C>T
n.565C>T
c.*1517C>T (n.*1517C>T)
c.8458C>T (p.Leu2820=)
c.2311C>T (p.Leu771=)
n.504C>T
c.8548C>T (p.Leu2850=)
c.8545C>T (p.Leu2849=)
c.8326C>T (p.Leu2776=)
c.6535C>T (p.Leu2179=)
c.6085C>T (p.Leu2029=)
c.5293C>T (p.Leu1765=)
c.8455C>T (p.Leu2819=)
 dbSNP
8g.60865398T>ACA371309627CHD7n.1635T>A
n.566T>A
c.*1518T>A (n.*1518T>A)
c.8459T>A (p.Leu2820Gln)
c.2312T>A (p.Leu771Gln)
n.505T>A
c.8549T>A (p.Leu2850Gln)
c.8546T>A (p.Leu2849Gln)
c.8327T>A (p.Leu2776Gln)
c.6536T>A (p.Leu2179Gln)
c.6086T>A (p.Leu2029Gln)
c.5294T>A (p.Leu1765Gln)
c.8456T>A (p.Leu2819Gln)
8g.60865398T>CCA371309624CHD7n.1635T>C
n.566T>C
c.*1518T>C (n.*1518T>C)
c.8459T>C (p.Leu2820Pro)
c.2312T>C (p.Leu771Pro)
n.505T>C
c.8549T>C (p.Leu2850Pro)
c.8546T>C (p.Leu2849Pro)
c.8327T>C (p.Leu2776Pro)
c.6536T>C (p.Leu2179Pro)
c.6086T>C (p.Leu2029Pro)
c.5294T>C (p.Leu1765Pro)
c.8456T>C (p.Leu2819Pro)
 gnomAD v4
8g.60865398T>GCA371309618CHD7n.1635T>G
n.566T>G
c.*1518T>G (n.*1518T>G)
c.8459T>G (p.Leu2820Arg)
c.2312T>G (p.Leu771Arg)
n.505T>G
c.8549T>G (p.Leu2850Arg)
c.8546T>G (p.Leu2849Arg)
c.8327T>G (p.Leu2776Arg)
c.6536T>G (p.Leu2179Arg)
c.6086T>G (p.Leu2029Arg)
c.5294T>G (p.Leu1765Arg)
c.8456T>G (p.Leu2819Arg)
8g.60865399_60865400dupCA2695203184CHD7n.1636_1637dup
n.567_568dup
c.*1519_*1520dup (n.*1519_*1520dup)
c.8460_8461dup (p.Ser2821CysfsTer?)
c.2313_2314dup (p.Ser772CysfsTer?)
n.506_507dup
c.8550_8551dup (p.Ser2851CysfsTer?)
c.8547_8548dup (p.Ser2850CysfsTer?)
c.8328_8329dup (p.Ser2777CysfsTer?)
c.6537_6538dup (p.Ser2180CysfsTer?)
c.6087_6088dup (p.Ser2030CysfsTer?)
c.5295_5296dup (p.Ser1766CysfsTer?)
c.8457_8458dup (p.Ser2820CysfsTer?)
8g.60865399G>ACA461106063CHD7n.1636G>A
n.567G>A
c.*1519G>A (n.*1519G>A)
c.8460G>A (p.Leu2820=)
c.2313G>A (p.Leu771=)
n.506G>A
c.8550G>A (p.Leu2850=)
c.8547G>A (p.Leu2849=)
c.8328G>A (p.Leu2776=)
c.6537G>A (p.Leu2179=)
c.6087G>A (p.Leu2029=)
c.5295G>A (p.Leu1765=)
c.8457G>A (p.Leu2819=)
8g.60865399G>CCA461106065CHD7n.1636G>C
n.567G>C
c.*1519G>C (n.*1519G>C)
c.8460G>C (p.Leu2820=)
c.2313G>C (p.Leu771=)
n.506G>C
c.8550G>C (p.Leu2850=)
c.8547G>C (p.Leu2849=)
c.8328G>C (p.Leu2776=)
c.6537G>C (p.Leu2179=)
c.6087G>C (p.Leu2029=)
c.5295G>C (p.Leu1765=)
c.8457G>C (p.Leu2819=)
8g.60865399G>TCA461106067CHD7n.1636G>T
n.567G>T
c.*1519G>T (n.*1519G>T)
c.8460G>T (p.Leu2820=)
c.2313G>T (p.Leu771=)
n.506G>T
c.8550G>T (p.Leu2850=)
c.8547G>T (p.Leu2849=)
c.8328G>T (p.Leu2776=)
c.6537G>T (p.Leu2179=)
c.6087G>T (p.Leu2029=)
c.5295G>T (p.Leu1765=)
c.8457G>T (p.Leu2819=)
8g.60865400T>ACA371309634CHD7n.1637T>A
n.568T>A
c.*1520T>A (n.*1520T>A)
c.8461T>A (p.Ser2821Thr)
c.2314T>A (p.Ser772Thr)
n.507T>A
c.8551T>A (p.Ser2851Thr)
c.8548T>A (p.Ser2850Thr)
c.8329T>A (p.Ser2777Thr)
c.6538T>A (p.Ser2180Thr)
c.6088T>A (p.Ser2030Thr)
c.5296T>A (p.Ser1766Thr)
c.8458T>A (p.Ser2820Thr)
8g.60865400T>CCA371309636CHD7n.1637T>C
n.568T>C
c.*1520T>C (n.*1520T>C)
c.8461T>C (p.Ser2821Pro)
c.2314T>C (p.Ser772Pro)
n.507T>C
c.8551T>C (p.Ser2851Pro)
c.8548T>C (p.Ser2850Pro)
c.8329T>C (p.Ser2777Pro)
c.6538T>C (p.Ser2180Pro)
c.6088T>C (p.Ser2030Pro)
c.5296T>C (p.Ser1766Pro)
c.8458T>C (p.Ser2820Pro)
8g.60865400T>GCA371309642CHD7n.1637T>G
n.568T>G
c.*1520T>G (n.*1520T>G)
c.8461T>G (p.Ser2821Ala)
c.2314T>G (p.Ser772Ala)
n.507T>G
c.8551T>G (p.Ser2851Ala)
c.8548T>G (p.Ser2850Ala)
c.8329T>G (p.Ser2777Ala)
c.6538T>G (p.Ser2180Ala)
c.6088T>G (p.Ser2030Ala)
c.5296T>G (p.Ser1766Ala)
c.8458T>G (p.Ser2820Ala)
8g.60865401C>ACA371309646CHD7n.1638C>A
n.569C>A
c.*1521C>A (n.*1521C>A)
c.8462C>A (p.Ser2821Ter)
c.2315C>A (p.Ser772Ter)
n.508C>A
c.8552C>A (p.Ser2851Ter)
c.8549C>A (p.Ser2850Ter)
c.8330C>A (p.Ser2777Ter)
c.6539C>A (p.Ser2180Ter)
c.6089C>A (p.Ser2030Ter)
c.5297C>A (p.Ser1766Ter)
c.8459C>A (p.Ser2820Ter)
8g.60865401C>GCA371309650CHD7n.1638C>G
n.569C>G
c.*1521C>G (n.*1521C>G)
c.8462C>G (p.Ser2821Ter)
c.2315C>G (p.Ser772Ter)
n.508C>G
c.8552C>G (p.Ser2851Ter)
c.8549C>G (p.Ser2850Ter)
c.8330C>G (p.Ser2777Ter)
c.6539C>G (p.Ser2180Ter)
c.6089C>G (p.Ser2030Ter)
c.5297C>G (p.Ser1766Ter)
c.8459C>G (p.Ser2820Ter)
8g.60865401C>TCA371309651CHD7n.1638C>T
n.569C>T
c.*1521C>T (n.*1521C>T)
c.8462C>T (p.Ser2821Leu)
c.2315C>T (p.Ser772Leu)
n.508C>T
c.8552C>T (p.Ser2851Leu)
c.8549C>T (p.Ser2850Leu)
c.8330C>T (p.Ser2777Leu)
c.6539C>T (p.Ser2180Leu)
c.6089C>T (p.Ser2030Leu)
c.5297C>T (p.Ser1766Leu)
c.8459C>T (p.Ser2820Leu)
8g.60865402A>CCA461106068CHD7n.1639A>C
n.570A>C
c.*1522A>C (n.*1522A>C)
c.8463A>C (p.Ser2821=)
c.2316A>C (p.Ser772=)
n.509A>C
c.8553A>C (p.Ser2851=)
c.8550A>C (p.Ser2850=)
c.8331A>C (p.Ser2777=)
c.6540A>C (p.Ser2180=)
c.6090A>C (p.Ser2030=)
c.5298A>C (p.Ser1766=)
c.8460A>C (p.Ser2820=)
8g.60865402A>GCA461106069CHD7n.1639A>G
n.570A>G
c.*1522A>G (n.*1522A>G)
c.8463A>G (p.Ser2821=)
c.2316A>G (p.Ser772=)
n.509A>G
c.8553A>G (p.Ser2851=)
c.8550A>G (p.Ser2850=)
c.8331A>G (p.Ser2777=)
c.6540A>G (p.Ser2180=)
c.6090A>G (p.Ser2030=)
c.5298A>G (p.Ser1766=)
c.8460A>G (p.Ser2820=)
8g.60865402A>TCA461106070CHD7n.1639A>T
n.570A>T
c.*1522A>T (n.*1522A>T)
c.8463A>T (p.Ser2821=)
c.2316A>T (p.Ser772=)
n.509A>T
c.8553A>T (p.Ser2851=)
c.8550A>T (p.Ser2850=)
c.8331A>T (p.Ser2777=)
c.6540A>T (p.Ser2180=)
c.6090A>T (p.Ser2030=)
c.5298A>T (p.Ser1766=)
c.8460A>T (p.Ser2820=)
8g.60865403G>ACA371309652CHD7n.1640G>A
n.571G>A
c.*1523G>A (n.*1523G>A)
c.8464G>A (p.Ala2822Thr)
c.2317G>A (p.Ala773Thr)
n.510G>A
c.8554G>A (p.Ala2852Thr)
c.8551G>A (p.Ala2851Thr)
c.8332G>A (p.Ala2778Thr)
c.6541G>A (p.Ala2181Thr)
c.6091G>A (p.Ala2031Thr)
c.5299G>A (p.Ala1767Thr)
c.8461G>A (p.Ala2821Thr)
 dbSNP gnomAD v4
8g.60865403G>CCA371309655CHD7n.1640G>C
n.571G>C
c.*1523G>C (n.*1523G>C)
c.8464G>C (p.Ala2822Pro)
c.2317G>C (p.Ala773Pro)
n.510G>C
c.8554G>C (p.Ala2852Pro)
c.8551G>C (p.Ala2851Pro)
c.8332G>C (p.Ala2778Pro)
c.6541G>C (p.Ala2181Pro)
c.6091G>C (p.Ala2031Pro)
c.5299G>C (p.Ala1767Pro)
c.8461G>C (p.Ala2821Pro)
 gnomAD v4
8g.60865403G=CA1788130275CHD7n.1640G=
n.571G=
c.*1523G= (n.*1523G=)
c.8464G= (p.Ala2822=)
c.2317G= (p.Ala773=)
n.510G=
c.8554G= (p.Ala2852=)
c.8551G= (p.Ala2851=)
c.8332G= (p.Ala2778=)
c.6541G= (p.Ala2181=)
c.6091G= (p.Ala2031=)
c.5299G= (p.Ala1767=)
c.8461G= (p.Ala2821=)
8g.60865403G>TCA371309659CHD7n.1640G>T
n.571G>T
c.*1523G>T (n.*1523G>T)
c.8464G>T (p.Ala2822Ser)
c.2317G>T (p.Ala773Ser)
n.510G>T
c.8554G>T (p.Ala2852Ser)
c.8551G>T (p.Ala2851Ser)
c.8332G>T (p.Ala2778Ser)
c.6541G>T (p.Ala2181Ser)
c.6091G>T (p.Ala2031Ser)
c.5299G>T (p.Ala1767Ser)
c.8461G>T (p.Ala2821Ser)
8g.60865404C>ACA371309663CHD7n.1641C>A
n.572C>A
c.*1524C>A (n.*1524C>A)
c.8465C>A (p.Ala2822Asp)
c.2318C>A (p.Ala773Asp)
n.511C>A
c.8555C>A (p.Ala2852Asp)
c.8552C>A (p.Ala2851Asp)
c.8333C>A (p.Ala2778Asp)
c.6542C>A (p.Ala2181Asp)
c.6092C>A (p.Ala2031Asp)
c.5300C>A (p.Ala1767Asp)
c.8462C>A (p.Ala2821Asp)
8g.60865404C=CA1788130299CHD7n.1641C=
n.572C=
c.*1524C= (n.*1524C=)
c.8465C= (p.Ala2822=)
c.2318C= (p.Ala773=)
n.511C=
c.8555C= (p.Ala2852=)
c.8552C= (p.Ala2851=)
c.8333C= (p.Ala2778=)
c.6542C= (p.Ala2181=)
c.6092C= (p.Ala2031=)
c.5300C= (p.Ala1767=)
c.8462C= (p.Ala2821=)
8g.60865404C>GCA371309666CHD7n.1641C>G
n.572C>G
c.*1524C>G (n.*1524C>G)
c.8465C>G (p.Ala2822Gly)
c.2318C>G (p.Ala773Gly)
n.511C>G
c.8555C>G (p.Ala2852Gly)
c.8552C>G (p.Ala2851Gly)
c.8333C>G (p.Ala2778Gly)
c.6542C>G (p.Ala2181Gly)
c.6092C>G (p.Ala2031Gly)
c.5300C>G (p.Ala1767Gly)
c.8462C>G (p.Ala2821Gly)
 dbSNP
8g.60865404C>TCA371309669CHD7n.1641C>T
n.572C>T
c.*1524C>T (n.*1524C>T)
c.8465C>T (p.Ala2822Val)
c.2318C>T (p.Ala773Val)
n.511C>T
c.8555C>T (p.Ala2852Val)
c.8552C>T (p.Ala2851Val)
c.8333C>T (p.Ala2778Val)
c.6542C>T (p.Ala2181Val)
c.6092C>T (p.Ala2031Val)
c.5300C>T (p.Ala1767Val)
c.8462C>T (p.Ala2821Val)
8g.60865405T>ACA461106072CHD7n.1642T>A
n.573T>A
c.*1525T>A (n.*1525T>A)
c.8466T>A (p.Ala2822=)
c.2319T>A (p.Ala773=)
n.512T>A
c.8556T>A (p.Ala2852=)
c.8553T>A (p.Ala2851=)
c.8334T>A (p.Ala2778=)
c.6543T>A (p.Ala2181=)
c.6093T>A (p.Ala2031=)
c.5301T>A (p.Ala1767=)
c.8463T>A (p.Ala2821=)
8g.60865405T>CCA461106075CHD7n.1642T>C
n.573T>C
c.*1525T>C (n.*1525T>C)
c.8466T>C (p.Ala2822=)
c.2319T>C (p.Ala773=)
n.512T>C
c.8556T>C (p.Ala2852=)
c.8553T>C (p.Ala2851=)
c.8334T>C (p.Ala2778=)
c.6543T>C (p.Ala2181=)
c.6093T>C (p.Ala2031=)
c.5301T>C (p.Ala1767=)
c.8463T>C (p.Ala2821=)
8g.60865405T>GCA461106078CHD7n.1642T>G
n.573T>G
c.*1525T>G (n.*1525T>G)
c.8466T>G (p.Ala2822=)
c.2319T>G (p.Ala773=)
n.512T>G
c.8556T>G (p.Ala2852=)
c.8553T>G (p.Ala2851=)
c.8334T>G (p.Ala2778=)
c.6543T>G (p.Ala2181=)
c.6093T>G (p.Ala2031=)
c.5301T>G (p.Ala1767=)
c.8463T>G (p.Ala2821=)
 dbSNP
8g.60865405T=CA1788130307CHD7n.1642T=
n.573T=
c.*1525T= (n.*1525T=)
c.8466T= (p.Ala2822=)
c.2319T= (p.Ala773=)
n.512T=
c.8556T= (p.Ala2852=)
c.8553T= (p.Ala2851=)
c.8334T= (p.Ala2778=)
c.6543T= (p.Ala2181=)
c.6093T= (p.Ala2031=)
c.5301T= (p.Ala1767=)
c.8463T= (p.Ala2821=)
8g.60865406G>ACA371309682CHD7n.1643G>A
n.574G>A
c.*1526G>A (n.*1526G>A)
c.8467G>A (p.Ala2823Thr)
c.2320G>A (p.Ala774Thr)
n.513G>A
c.8557G>A (p.Ala2853Thr)
c.8554G>A (p.Ala2852Thr)
c.8335G>A (p.Ala2779Thr)
c.6544G>A (p.Ala2182Thr)
c.6094G>A (p.Ala2032Thr)
c.5302G>A (p.Ala1768Thr)
c.8464G>A (p.Ala2822Thr)
8g.60865406G>CCA371309677CHD7n.1643G>C
n.574G>C
c.*1526G>C (n.*1526G>C)
c.8467G>C (p.Ala2823Pro)
c.2320G>C (p.Ala774Pro)
n.513G>C
c.8557G>C (p.Ala2853Pro)
c.8554G>C (p.Ala2852Pro)
c.8335G>C (p.Ala2779Pro)
c.6544G>C (p.Ala2182Pro)
c.6094G>C (p.Ala2032Pro)
c.5302G>C (p.Ala1768Pro)
c.8464G>C (p.Ala2822Pro)
8g.60865406G>TCA371309681CHD7n.1643G>T
n.574G>T
c.*1526G>T (n.*1526G>T)
c.8467G>T (p.Ala2823Ser)
c.2320G>T (p.Ala774Ser)
n.513G>T
c.8557G>T (p.Ala2853Ser)
c.8554G>T (p.Ala2852Ser)
c.8335G>T (p.Ala2779Ser)
c.6544G>T (p.Ala2182Ser)
c.6094G>T (p.Ala2032Ser)
c.5302G>T (p.Ala1768Ser)
c.8464G>T (p.Ala2822Ser)
 ClinVar gnomAD v4
8g.60865407C>ACA371309683CHD7n.1644C>A
n.575C>A
c.*1527C>A (n.*1527C>A)
c.8468C>A (p.Ala2823Asp)
c.2321C>A (p.Ala774Asp)
n.514C>A
c.8558C>A (p.Ala2853Asp)
c.8555C>A (p.Ala2852Asp)
c.8336C>A (p.Ala2779Asp)
c.6545C>A (p.Ala2182Asp)
c.6095C>A (p.Ala2032Asp)
c.5303C>A (p.Ala1768Asp)
c.8465C>A (p.Ala2822Asp)
8g.60865407C>GCA371309685CHD7n.1644C>G
n.575C>G
c.*1527C>G (n.*1527C>G)
c.8468C>G (p.Ala2823Gly)
c.2321C>G (p.Ala774Gly)
n.514C>G
c.8558C>G (p.Ala2853Gly)
c.8555C>G (p.Ala2852Gly)
c.8336C>G (p.Ala2779Gly)
c.6545C>G (p.Ala2182Gly)
c.6095C>G (p.Ala2032Gly)
c.5303C>G (p.Ala1768Gly)
c.8465C>G (p.Ala2822Gly)
8g.60865407C>TCA371309688CHD7n.1644C>T
n.575C>T
c.*1527C>T (n.*1527C>T)
c.8468C>T (p.Ala2823Val)
c.2321C>T (p.Ala774Val)
n.514C>T
c.8558C>T (p.Ala2853Val)
c.8555C>T (p.Ala2852Val)
c.8336C>T (p.Ala2779Val)
c.6545C>T (p.Ala2182Val)
c.6095C>T (p.Ala2032Val)
c.5303C>T (p.Ala1768Val)
c.8465C>T (p.Ala2822Val)
8g.60865408T>ACA461106082CHD7n.1645T>A
n.576T>A
c.*1528T>A (n.*1528T>A)
c.8469T>A (p.Ala2823=)
c.2322T>A (p.Ala774=)
n.515T>A
c.8559T>A (p.Ala2853=)
c.8556T>A (p.Ala2852=)
c.8337T>A (p.Ala2779=)
c.6546T>A (p.Ala2182=)
c.6096T>A (p.Ala2032=)
c.5304T>A (p.Ala1768=)
c.8466T>A (p.Ala2822=)
8g.60865408T>CCA461106083CHD7n.1645T>C
n.576T>C
c.*1528T>C (n.*1528T>C)
c.8469T>C (p.Ala2823=)
c.2322T>C (p.Ala774=)
n.515T>C
c.8559T>C (p.Ala2853=)
c.8556T>C (p.Ala2852=)
c.8337T>C (p.Ala2779=)
c.6546T>C (p.Ala2182=)
c.6096T>C (p.Ala2032=)
c.5304T>C (p.Ala1768=)
c.8466T>C (p.Ala2822=)
8g.60865408T>GCA461106084CHD7n.1645T>G
n.576T>G
c.*1528T>G (n.*1528T>G)
c.8469T>G (p.Ala2823=)
c.2322T>G (p.Ala774=)
n.515T>G
c.8559T>G (p.Ala2853=)
c.8556T>G (p.Ala2852=)
c.8337T>G (p.Ala2779=)
c.6546T>G (p.Ala2182=)
c.6096T>G (p.Ala2032=)
c.5304T>G (p.Ala1768=)
c.8466T>G (p.Ala2822=)
8g.60865409A=CA1788130314CHD7n.1646A=
n.577A=
c.*1529A= (n.*1529A=)
c.8470A= (p.Thr2824=)
c.2323A= (p.Thr775=)
n.516A=
c.8560A= (p.Thr2854=)
c.8557A= (p.Thr2853=)
c.8338A= (p.Thr2780=)
c.6547A= (p.Thr2183=)
c.6097A= (p.Thr2033=)
c.5305A= (p.Thr1769=)
c.8467A= (p.Thr2823=)
8g.60865409A>CCA371309689CHD7n.1646A>C
n.577A>C
c.*1529A>C (n.*1529A>C)
c.8470A>C (p.Thr2824Pro)
c.2323A>C (p.Thr775Pro)
n.516A>C
c.8560A>C (p.Thr2854Pro)
c.8557A>C (p.Thr2853Pro)
c.8338A>C (p.Thr2780Pro)
c.6547A>C (p.Thr2183Pro)
c.6097A>C (p.Thr2033Pro)
c.5305A>C (p.Thr1769Pro)
c.8467A>C (p.Thr2823Pro)
 ClinVar
8g.60865409A>GCA371309690CHD7n.1646A>G
n.577A>G
c.*1529A>G (n.*1529A>G)
c.8470A>G (p.Thr2824Ala)
c.2323A>G (p.Thr775Ala)
n.516A>G
c.8560A>G (p.Thr2854Ala)
c.8557A>G (p.Thr2853Ala)
c.8338A>G (p.Thr2780Ala)
c.6547A>G (p.Thr2183Ala)
c.6097A>G (p.Thr2033Ala)
c.5305A>G (p.Thr1769Ala)
c.8467A>G (p.Thr2823Ala)
 dbSNP gnomAD v2 gnomAD v4
8g.60865409A>TCA371309693CHD7n.1646A>T
n.577A>T
c.*1529A>T (n.*1529A>T)
c.8470A>T (p.Thr2824Ser)
c.2323A>T (p.Thr775Ser)
n.516A>T
c.8560A>T (p.Thr2854Ser)
c.8557A>T (p.Thr2853Ser)
c.8338A>T (p.Thr2780Ser)
c.6547A>T (p.Thr2183Ser)
c.6097A>T (p.Thr2033Ser)
c.5305A>T (p.Thr1769Ser)
c.8467A>T (p.Thr2823Ser)
8g.60865410C>ACA371309703CHD7n.1647C>A
n.578C>A
c.*1530C>A (n.*1530C>A)
c.8471C>A (p.Thr2824Asn)
c.2324C>A (p.Thr775Asn)
n.517C>A
c.8561C>A (p.Thr2854Asn)
c.8558C>A (p.Thr2853Asn)
c.8339C>A (p.Thr2780Asn)
c.6548C>A (p.Thr2183Asn)
c.6098C>A (p.Thr2033Asn)
c.5306C>A (p.Thr1769Asn)
c.8468C>A (p.Thr2823Asn)
8g.60865410C>GCA371309708CHD7n.1647C>G
n.578C>G
c.*1530C>G (n.*1530C>G)
c.8471C>G (p.Thr2824Ser)
c.2324C>G (p.Thr775Ser)
n.517C>G
c.8561C>G (p.Thr2854Ser)
c.8558C>G (p.Thr2853Ser)
c.8339C>G (p.Thr2780Ser)
c.6548C>G (p.Thr2183Ser)
c.6098C>G (p.Thr2033Ser)
c.5306C>G (p.Thr1769Ser)
c.8468C>G (p.Thr2823Ser)
 gnomAD v4
8g.60865410C>TCA371309721CHD7n.1647C>T
n.578C>T
c.*1530C>T (n.*1530C>T)
c.8471C>T (p.Thr2824Ile)
c.2324C>T (p.Thr775Ile)
n.517C>T
c.8561C>T (p.Thr2854Ile)
c.8558C>T (p.Thr2853Ile)
c.8339C>T (p.Thr2780Ile)
c.6548C>T (p.Thr2183Ile)
c.6098C>T (p.Thr2033Ile)
c.5306C>T (p.Thr1769Ile)
c.8468C>T (p.Thr2823Ile)
8g.60865411T>ACA461106086CHD7n.1648T>A
n.579T>A
c.*1531T>A (n.*1531T>A)
c.8472T>A (p.Thr2824=)
c.2325T>A (p.Thr775=)
n.518T>A
c.8562T>A (p.Thr2854=)
c.8559T>A (p.Thr2853=)
c.8340T>A (p.Thr2780=)
c.6549T>A (p.Thr2183=)
c.6099T>A (p.Thr2033=)
c.5307T>A (p.Thr1769=)
c.8469T>A (p.Thr2823=)
8g.60865411T>CCA461106087CHD7n.1648T>C
n.579T>C
c.*1531T>C (n.*1531T>C)
c.8472T>C (p.Thr2824=)
c.2325T>C (p.Thr775=)
n.518T>C
c.8562T>C (p.Thr2854=)
c.8559T>C (p.Thr2853=)
c.8340T>C (p.Thr2780=)
c.6549T>C (p.Thr2183=)
c.6099T>C (p.Thr2033=)
c.5307T>C (p.Thr1769=)
c.8469T>C (p.Thr2823=)
8g.60865411T>GCA461106088CHD7n.1648T>G
n.579T>G
c.*1531T>G (n.*1531T>G)
c.8472T>G (p.Thr2824=)
c.2325T>G (p.Thr775=)
n.518T>G
c.8562T>G (p.Thr2854=)
c.8559T>G (p.Thr2853=)
c.8340T>G (p.Thr2780=)
c.6549T>G (p.Thr2183=)
c.6099T>G (p.Thr2033=)
c.5307T>G (p.Thr1769=)
c.8469T>G (p.Thr2823=)
8g.60865412G>ACA371309732CHD7n.1649G>A
n.580G>A
c.*1532G>A (n.*1532G>A)
c.8473G>A (p.Gly2825Arg)
c.2326G>A (p.Gly776Arg)
n.519G>A
c.8563G>A (p.Gly2855Arg)
c.8560G>A (p.Gly2854Arg)
c.8341G>A (p.Gly2781Arg)
c.6550G>A (p.Gly2184Arg)
c.6100G>A (p.Gly2034Arg)
c.5308G>A (p.Gly1770Arg)
c.8470G>A (p.Gly2824Arg)
8g.60865412G>CCA371309738CHD7n.1649G>C
n.580G>C
c.*1532G>C (n.*1532G>C)
c.8473G>C (p.Gly2825Arg)
c.2326G>C (p.Gly776Arg)
n.519G>C
c.8563G>C (p.Gly2855Arg)
c.8560G>C (p.Gly2854Arg)
c.8341G>C (p.Gly2781Arg)
c.6550G>C (p.Gly2184Arg)
c.6100G>C (p.Gly2034Arg)
c.5308G>C (p.Gly1770Arg)
c.8470G>C (p.Gly2824Arg)
8g.60865412G>TCA371309742CHD7n.1649G>T
n.580G>T
c.*1532G>T (n.*1532G>T)
c.8473G>T (p.Gly2825Ter)
c.2326G>T (p.Gly776Ter)
n.519G>T
c.8563G>T (p.Gly2855Ter)
c.8560G>T (p.Gly2854Ter)
c.8341G>T (p.Gly2781Ter)
c.6550G>T (p.Gly2184Ter)
c.6100G>T (p.Gly2034Ter)
c.5308G>T (p.Gly1770Ter)
c.8470G>T (p.Gly2824Ter)
8g.60865413G>ACA371309753CHD7n.1650G>A
n.581G>A
c.*1533G>A (n.*1533G>A)
c.8474G>A (p.Gly2825Glu)
c.2327G>A (p.Gly776Glu)
n.520G>A
c.8564G>A (p.Gly2855Glu)
c.8561G>A (p.Gly2854Glu)
c.8342G>A (p.Gly2781Glu)
c.6551G>A (p.Gly2184Glu)
c.6101G>A (p.Gly2034Glu)
c.5309G>A (p.Gly1770Glu)
c.8471G>A (p.Gly2824Glu)
8g.60865413G>CCA371309757CHD7n.1650G>C
n.581G>C
c.*1533G>C (n.*1533G>C)
c.8474G>C (p.Gly2825Ala)
c.2327G>C (p.Gly776Ala)
n.520G>C
c.8564G>C (p.Gly2855Ala)
c.8561G>C (p.Gly2854Ala)
c.8342G>C (p.Gly2781Ala)
c.6551G>C (p.Gly2184Ala)
c.6101G>C (p.Gly2034Ala)
c.5309G>C (p.Gly1770Ala)
c.8471G>C (p.Gly2824Ala)
8g.60865413G=CA1788130322CHD7n.1650G=
n.581G=
c.*1533G= (n.*1533G=)
c.8474G= (p.Gly2825=)
c.2327G= (p.Gly776=)
n.520G=
c.8564G= (p.Gly2855=)
c.8561G= (p.Gly2854=)
c.8342G= (p.Gly2781=)
c.6551G= (p.Gly2184=)
c.6101G= (p.Gly2034=)
c.5309G= (p.Gly1770=)
c.8471G= (p.Gly2824=)
8g.60865413G>TCA4761020CHD7n.1650G>T
n.581G>T
c.*1533G>T (n.*1533G>T)
c.8474G>T (p.Gly2825Val)
c.2327G>T (p.Gly776Val)
n.520G>T
c.8564G>T (p.Gly2855Val)
c.8561G>T (p.Gly2854Val)
c.8342G>T (p.Gly2781Val)
c.6551G>T (p.Gly2184Val)
c.6101G>T (p.Gly2034Val)
c.5309G>T (p.Gly1770Val)
c.8471G>T (p.Gly2824Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.60865414A>CCA461106099CHD7n.1651A>C
n.582A>C
c.*1534A>C (n.*1534A>C)
c.8475A>C (p.Gly2825=)
c.2328A>C (p.Gly776=)
n.521A>C
c.8565A>C (p.Gly2855=)
c.8562A>C (p.Gly2854=)
c.8343A>C (p.Gly2781=)
c.6552A>C (p.Gly2184=)
c.6102A>C (p.Gly2034=)
c.5310A>C (p.Gly1770=)
c.8472A>C (p.Gly2824=)
 gnomAD v4
8g.60865414A>GCA461106098CHD7n.1651A>G
n.582A>G
c.*1534A>G (n.*1534A>G)
c.8475A>G (p.Gly2825=)
c.2328A>G (p.Gly776=)
n.521A>G
c.8565A>G (p.Gly2855=)
c.8562A>G (p.Gly2854=)
c.8343A>G (p.Gly2781=)
c.6552A>G (p.Gly2184=)
c.6102A>G (p.Gly2034=)
c.5310A>G (p.Gly1770=)
c.8472A>G (p.Gly2824=)
8g.60865414A>TCA461106097CHD7n.1651A>T
n.582A>T
c.*1534A>T (n.*1534A>T)
c.8475A>T (p.Gly2825=)
c.2328A>T (p.Gly776=)
n.521A>T
c.8565A>T (p.Gly2855=)
c.8562A>T (p.Gly2854=)
c.8343A>T (p.Gly2781=)
c.6552A>T (p.Gly2184=)
c.6102A>T (p.Gly2034=)
c.5310A>T (p.Gly1770=)
c.8472A>T (p.Gly2824=)
 gnomAD v3 gnomAD v4
8g.60865415A>CCA371309761CHD7n.1652A>C
n.583A>C
c.*1535A>C (n.*1535A>C)
c.8476A>C (p.Asn2826His)
c.2329A>C (p.Asn777His)
n.522A>C
c.8566A>C (p.Asn2856His)
c.8563A>C (p.Asn2855His)
c.8344A>C (p.Asn2782His)
c.6553A>C (p.Asn2185His)
c.6103A>C (p.Asn2035His)
c.5311A>C (p.Asn1771His)
c.8473A>C (p.Asn2825His)
8g.60865415A>GCA371309765CHD7n.1652A>G
n.583A>G
c.*1535A>G (n.*1535A>G)
c.8476A>G (p.Asn2826Asp)
c.2329A>G (p.Asn777Asp)
n.522A>G
c.8566A>G (p.Asn2856Asp)
c.8563A>G (p.Asn2855Asp)
c.8344A>G (p.Asn2782Asp)
c.6553A>G (p.Asn2185Asp)
c.6103A>G (p.Asn2035Asp)
c.5311A>G (p.Asn1771Asp)
c.8473A>G (p.Asn2825Asp)
8g.60865415A>TCA371309768CHD7n.1652A>T
n.583A>T
c.*1535A>T (n.*1535A>T)
c.8476A>T (p.Asn2826Tyr)
c.2329A>T (p.Asn777Tyr)
n.522A>T
c.8566A>T (p.Asn2856Tyr)
c.8563A>T (p.Asn2855Tyr)
c.8344A>T (p.Asn2782Tyr)
c.6553A>T (p.Asn2185Tyr)
c.6103A>T (p.Asn2035Tyr)
c.5311A>T (p.Asn1771Tyr)
c.8473A>T (p.Asn2825Tyr)
8g.60865416A=CA1788130335CHD7n.1653A=
n.584A=
c.*1536A= (n.*1536A=)
c.8477A= (p.Asn2826=)
c.2330A= (p.Asn777=)
n.523A=
c.8567A= (p.Asn2856=)
c.8564A= (p.Asn2855=)
c.8345A= (p.Asn2782=)
c.6554A= (p.Asn2185=)
c.6104A= (p.Asn2035=)
c.5312A= (p.Asn1771=)
c.8474A= (p.Asn2825=)
8g.60865416A>CCA371309772CHD7n.1653A>C
n.584A>C
c.*1536A>C (n.*1536A>C)
c.8477A>C (p.Asn2826Thr)
c.2330A>C (p.Asn777Thr)
n.523A>C
c.8567A>C (p.Asn2856Thr)
c.8564A>C (p.Asn2855Thr)
c.8345A>C (p.Asn2782Thr)
c.6554A>C (p.Asn2185Thr)
c.6104A>C (p.Asn2035Thr)
c.5312A>C (p.Asn1771Thr)
c.8474A>C (p.Asn2825Thr)
8g.60865416A>GCA4761021CHD7n.1653A>G
n.584A>G
c.*1536A>G (n.*1536A>G)
c.8477A>G (p.Asn2826Ser)
c.2330A>G (p.Asn777Ser)
n.523A>G
c.8567A>G (p.Asn2856Ser)
c.8564A>G (p.Asn2855Ser)
c.8345A>G (p.Asn2782Ser)
c.6554A>G (p.Asn2185Ser)
c.6104A>G (p.Asn2035Ser)
c.5312A>G (p.Asn1771Ser)
c.8474A>G (p.Asn2825Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60865416A>TCA371309780CHD7n.1653A>T
n.584A>T
c.*1536A>T (n.*1536A>T)
c.8477A>T (p.Asn2826Ile)
c.2330A>T (p.Asn777Ile)
n.523A>T
c.8567A>T (p.Asn2856Ile)
c.8564A>T (p.Asn2855Ile)
c.8345A>T (p.Asn2782Ile)
c.6554A>T (p.Asn2185Ile)
c.6104A>T (p.Asn2035Ile)
c.5312A>T (p.Asn1771Ile)
c.8474A>T (p.Asn2825Ile)
8g.60865417C>ACA371309788CHD7n.1654C>A
n.585C>A
c.*1537C>A (n.*1537C>A)
c.8478C>A (p.Asn2826Lys)
c.2331C>A (p.Asn777Lys)
n.524C>A
c.8568C>A (p.Asn2856Lys)
c.8565C>A (p.Asn2855Lys)
c.8346C>A (p.Asn2782Lys)
c.6555C>A (p.Asn2185Lys)
c.6105C>A (p.Asn2035Lys)
c.5313C>A (p.Asn1771Lys)
c.8475C>A (p.Asn2825Lys)
8g.60865417C=CA1788130341CHD7n.1654C=
n.585C=
c.*1537C= (n.*1537C=)
c.8478C= (p.Asn2826=)
c.2331C= (p.Asn777=)
n.524C=
c.8568C= (p.Asn2856=)
c.8565C= (p.Asn2855=)
c.8346C= (p.Asn2782=)
c.6555C= (p.Asn2185=)
c.6105C= (p.Asn2035=)
c.5313C= (p.Asn1771=)
c.8475C= (p.Asn2825=)
8g.60865417C>GCA371309783CHD7n.1654C>G
n.585C>G
c.*1537C>G (n.*1537C>G)
c.8478C>G (p.Asn2826Lys)
c.2331C>G (p.Asn777Lys)
n.524C>G
c.8568C>G (p.Asn2856Lys)
c.8565C>G (p.Asn2855Lys)
c.8346C>G (p.Asn2782Lys)
c.6555C>G (p.Asn2185Lys)
c.6105C>G (p.Asn2035Lys)
c.5313C>G (p.Asn1771Lys)
c.8475C>G (p.Asn2825Lys)
8g.60865417C>TCA4761022CHD7n.1654C>T
n.585C>T
c.*1537C>T (n.*1537C>T)
c.8478C>T (p.Asn2826=)
c.2331C>T (p.Asn777=)
n.524C>T
c.8568C>T (p.Asn2856=)
c.8565C>T (p.Asn2855=)
c.8346C>T (p.Asn2782=)
c.6555C>T (p.Asn2185=)
c.6105C>T (p.Asn2035=)
c.5313C>T (p.Asn1771=)
c.8475C>T (p.Asn2825=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.60865418A=CA1788130351CHD7n.1655A=
n.586A=
c.*1538A= (n.*1538A=)
c.8479A= (p.Thr2827=)
c.2332A= (p.Thr778=)
n.525A=
c.8569A= (p.Thr2857=)
c.8566A= (p.Thr2856=)
c.8347A= (p.Thr2783=)
c.6556A= (p.Thr2186=)
c.6106A= (p.Thr2036=)
c.5314A= (p.Thr1772=)
c.8476A= (p.Thr2826=)
8g.60865418A>CCA371309791CHD7n.1655A>C
n.586A>C
c.*1538A>C (n.*1538A>C)
c.8479A>C (p.Thr2827Pro)
c.2332A>C (p.Thr778Pro)
n.525A>C
c.8569A>C (p.Thr2857Pro)
c.8566A>C (p.Thr2856Pro)
c.8347A>C (p.Thr2783Pro)
c.6556A>C (p.Thr2186Pro)
c.6106A>C (p.Thr2036Pro)
c.5314A>C (p.Thr1772Pro)
c.8476A>C (p.Thr2826Pro)
 ClinVar dbSNP
8g.60865418A>GCA371309792CHD7n.1655A>G
n.586A>G
c.*1538A>G (n.*1538A>G)
c.8479A>G (p.Thr2827Ala)
c.2332A>G (p.Thr778Ala)
n.525A>G
c.8569A>G (p.Thr2857Ala)
c.8566A>G (p.Thr2856Ala)
c.8347A>G (p.Thr2783Ala)
c.6556A>G (p.Thr2186Ala)
c.6106A>G (p.Thr2036Ala)
c.5314A>G (p.Thr1772Ala)
c.8476A>G (p.Thr2826Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60865418A>TCA371309793CHD7n.1655A>T
n.586A>T
c.*1538A>T (n.*1538A>T)
c.8479A>T (p.Thr2827Ser)
c.2332A>T (p.Thr778Ser)
n.525A>T
c.8569A>T (p.Thr2857Ser)
c.8566A>T (p.Thr2856Ser)
c.8347A>T (p.Thr2783Ser)
c.6556A>T (p.Thr2186Ser)
c.6106A>T (p.Thr2036Ser)
c.5314A>T (p.Thr1772Ser)
c.8476A>T (p.Thr2826Ser)
8g.60865419C>ACA371309794CHD7n.1656C>A
n.587C>A
c.*1539C>A (n.*1539C>A)
c.8480C>A (p.Thr2827Asn)
c.2333C>A (p.Thr778Asn)
n.526C>A
c.8570C>A (p.Thr2857Asn)
c.8567C>A (p.Thr2856Asn)
c.8348C>A (p.Thr2783Asn)
c.6557C>A (p.Thr2186Asn)
c.6107C>A (p.Thr2036Asn)
c.5315C>A (p.Thr1772Asn)
c.8477C>A (p.Thr2826Asn)
 gnomAD v4
8g.60865419C>GCA371309796CHD7n.1656C>G
n.587C>G
c.*1539C>G (n.*1539C>G)
c.8480C>G (p.Thr2827Ser)
c.2333C>G (p.Thr778Ser)
n.526C>G
c.8570C>G (p.Thr2857Ser)
c.8567C>G (p.Thr2856Ser)
c.8348C>G (p.Thr2783Ser)
c.6557C>G (p.Thr2186Ser)
c.6107C>G (p.Thr2036Ser)
c.5315C>G (p.Thr1772Ser)
c.8477C>G (p.Thr2826Ser)
8g.60865419C>TCA371309798CHD7n.1656C>T
n.587C>T
c.*1539C>T (n.*1539C>T)
c.8480C>T (p.Thr2827Ile)
c.2333C>T (p.Thr778Ile)
n.526C>T
c.8570C>T (p.Thr2857Ile)
c.8567C>T (p.Thr2856Ile)
c.8348C>T (p.Thr2783Ile)
c.6557C>T (p.Thr2186Ile)
c.6107C>T (p.Thr2036Ile)
c.5315C>T (p.Thr1772Ile)
c.8477C>T (p.Thr2826Ile)
8g.60865420C>ACA461106107CHD7n.1657C>A
n.588C>A
c.*1540C>A (n.*1540C>A)
c.8481C>A (p.Thr2827=)
c.2334C>A (p.Thr778=)
n.527C>A
c.8571C>A (p.Thr2857=)
c.8568C>A (p.Thr2856=)
c.8349C>A (p.Thr2783=)
c.6558C>A (p.Thr2186=)
c.6108C>A (p.Thr2036=)
c.5316C>A (p.Thr1772=)
c.8478C>A (p.Thr2826=)
8g.60865420C=CA1788130359CHD7n.1657C=
n.588C=
c.*1540C= (n.*1540C=)
c.8481C= (p.Thr2827=)
c.2334C= (p.Thr778=)
n.527C=
c.8571C= (p.Thr2857=)
c.8568C= (p.Thr2856=)
c.8349C= (p.Thr2783=)
c.6558C= (p.Thr2186=)
c.6108C= (p.Thr2036=)
c.5316C= (p.Thr1772=)
c.8478C= (p.Thr2826=)
8g.60865420C>GCA461106109CHD7n.1657C>G
n.588C>G
c.*1540C>G (n.*1540C>G)
c.8481C>G (p.Thr2827=)
c.2334C>G (p.Thr778=)
n.527C>G
c.8571C>G (p.Thr2857=)
c.8568C>G (p.Thr2856=)
c.8349C>G (p.Thr2783=)
c.6558C>G (p.Thr2186=)
c.6108C>G (p.Thr2036=)
c.5316C>G (p.Thr1772=)
c.8478C>G (p.Thr2826=)
8g.60865420C>TCA461106108CHD7n.1657C>T
n.588C>T
c.*1540C>T (n.*1540C>T)
c.8481C>T (p.Thr2827=)
c.2334C>T (p.Thr778=)
n.527C>T
c.8571C>T (p.Thr2857=)
c.8568C>T (p.Thr2856=)
c.8349C>T (p.Thr2783=)
c.6558C>T (p.Thr2186=)
c.6108C>T (p.Thr2036=)
c.5316C>T (p.Thr1772=)
c.8478C>T (p.Thr2826=)
 ClinVar dbSNP gnomAD v4
8g.60865421A>CCA371309801CHD7n.1658A>C
n.589A>C
c.*1541A>C (n.*1541A>C)
c.8482A>C (p.Thr2828Pro)
c.2335A>C (p.Thr779Pro)
n.528A>C
c.8572A>C (p.Thr2858Pro)
c.8569A>C (p.Thr2857Pro)
c.8350A>C (p.Thr2784Pro)
c.6559A>C (p.Thr2187Pro)
c.6109A>C (p.Thr2037Pro)
c.5317A>C (p.Thr1773Pro)
c.8479A>C (p.Thr2827Pro)
8g.60865421A>GCA371309807CHD7n.1658A>G
n.589A>G
c.*1541A>G (n.*1541A>G)
c.8482A>G (p.Thr2828Ala)
c.2335A>G (p.Thr779Ala)
n.528A>G
c.8572A>G (p.Thr2858Ala)
c.8569A>G (p.Thr2857Ala)
c.8350A>G (p.Thr2784Ala)
c.6559A>G (p.Thr2187Ala)
c.6109A>G (p.Thr2037Ala)
c.5317A>G (p.Thr1773Ala)
c.8479A>G (p.Thr2827Ala)
 ClinVar
8g.60865421A>TCA371309804CHD7n.1658A>T
n.589A>T
c.*1541A>T (n.*1541A>T)
c.8482A>T (p.Thr2828Ser)
c.2335A>T (p.Thr779Ser)
n.528A>T
c.8572A>T (p.Thr2858Ser)
c.8569A>T (p.Thr2857Ser)
c.8350A>T (p.Thr2784Ser)
c.6559A>T (p.Thr2187Ser)
c.6109A>T (p.Thr2037Ser)
c.5317A>T (p.Thr1773Ser)
c.8479A>T (p.Thr2827Ser)
8g.60865422C>ACA371309812CHD7n.1659C>A
n.590C>A
c.*1542C>A (n.*1542C>A)
c.8483C>A (p.Thr2828Asn)
c.2336C>A (p.Thr779Asn)
n.529C>A
c.8573C>A (p.Thr2858Asn)
c.8570C>A (p.Thr2857Asn)
c.8351C>A (p.Thr2784Asn)
c.6560C>A (p.Thr2187Asn)
c.6110C>A (p.Thr2037Asn)
c.5318C>A (p.Thr1773Asn)
c.8480C>A (p.Thr2827Asn)
8g.60865422C>GCA371309814CHD7n.1659C>G
n.590C>G
c.*1542C>G (n.*1542C>G)
c.8483C>G (p.Thr2828Ser)
c.2336C>G (p.Thr779Ser)
n.529C>G
c.8573C>G (p.Thr2858Ser)
c.8570C>G (p.Thr2857Ser)
c.8351C>G (p.Thr2784Ser)
c.6560C>G (p.Thr2187Ser)
c.6110C>G (p.Thr2037Ser)
c.5318C>G (p.Thr1773Ser)
c.8480C>G (p.Thr2827Ser)
8g.60865422C>TCA371309815CHD7n.1659C>T
n.590C>T
c.*1542C>T (n.*1542C>T)
c.8483C>T (p.Thr2828Ile)
c.2336C>T (p.Thr779Ile)
n.529C>T
c.8573C>T (p.Thr2858Ile)
c.8570C>T (p.Thr2857Ile)
c.8351C>T (p.Thr2784Ile)
c.6560C>T (p.Thr2187Ile)
c.6110C>T (p.Thr2037Ile)
c.5318C>T (p.Thr1773Ile)
c.8480C>T (p.Thr2827Ile)
8g.60865423T>ACA461106110CHD7n.1660T>A
n.591T>A
c.*1543T>A (n.*1543T>A)
c.8484T>A (p.Thr2828=)
c.2337T>A (p.Thr779=)
n.530T>A
c.8574T>A (p.Thr2858=)
c.8571T>A (p.Thr2857=)
c.8352T>A (p.Thr2784=)
c.6561T>A (p.Thr2187=)
c.6111T>A (p.Thr2037=)
c.5319T>A (p.Thr1773=)
c.8481T>A (p.Thr2827=)
8g.60865423T>CCA461106111CHD7n.1660T>C
n.591T>C
c.*1543T>C (n.*1543T>C)
c.8484T>C (p.Thr2828=)
c.2337T>C (p.Thr779=)
n.530T>C
c.8574T>C (p.Thr2858=)
c.8571T>C (p.Thr2857=)
c.8352T>C (p.Thr2784=)
c.6561T>C (p.Thr2187=)
c.6111T>C (p.Thr2037=)
c.5319T>C (p.Thr1773=)
c.8481T>C (p.Thr2827=)
8g.60865423T>GCA461106112CHD7n.1660T>G
n.591T>G
c.*1543T>G (n.*1543T>G)
c.8484T>G (p.Thr2828=)
c.2337T>G (p.Thr779=)
n.530T>G
c.8574T>G (p.Thr2858=)
c.8571T>G (p.Thr2857=)
c.8352T>G (p.Thr2784=)
c.6561T>G (p.Thr2187=)
c.6111T>G (p.Thr2037=)
c.5319T>G (p.Thr1773=)
c.8481T>G (p.Thr2827=)
8g.60865424A>CCA371309816CHD7n.1661A>C
n.592A>C
c.*1544A>C (n.*1544A>C)
c.8485A>C (p.Thr2829Pro)
c.2338A>C (p.Thr780Pro)
n.531A>C
c.8575A>C (p.Thr2859Pro)
c.8572A>C (p.Thr2858Pro)
c.8353A>C (p.Thr2785Pro)
c.6562A>C (p.Thr2188Pro)
c.6112A>C (p.Thr2038Pro)
c.5320A>C (p.Thr1774Pro)
c.8482A>C (p.Thr2828Pro)
8g.60865424A>GCA371309819CHD7n.1661A>G
n.592A>G
c.*1544A>G (n.*1544A>G)
c.8485A>G (p.Thr2829Ala)
c.2338A>G (p.Thr780Ala)
n.531A>G
c.8575A>G (p.Thr2859Ala)
c.8572A>G (p.Thr2858Ala)
c.8353A>G (p.Thr2785Ala)
c.6562A>G (p.Thr2188Ala)
c.6112A>G (p.Thr2038Ala)
c.5320A>G (p.Thr1774Ala)
c.8482A>G (p.Thr2828Ala)
8g.60865424A>TCA371309820CHD7n.1661A>T
n.592A>T
c.*1544A>T (n.*1544A>T)
c.8485A>T (p.Thr2829Ser)
c.2338A>T (p.Thr780Ser)
n.531A>T
c.8575A>T (p.Thr2859Ser)
c.8572A>T (p.Thr2858Ser)
c.8353A>T (p.Thr2785Ser)
c.6562A>T (p.Thr2188Ser)
c.6112A>T (p.Thr2038Ser)
c.5320A>T (p.Thr1774Ser)
c.8482A>T (p.Thr2828Ser)
 gnomAD v4
8g.60865425C>ACA371309821CHD7n.1662C>A
n.593C>A
c.*1545C>A (n.*1545C>A)
c.8486C>A (p.Thr2829Asn)
c.2339C>A (p.Thr780Asn)
n.532C>A
c.8576C>A (p.Thr2859Asn)
c.8573C>A (p.Thr2858Asn)
c.8354C>A (p.Thr2785Asn)
c.6563C>A (p.Thr2188Asn)
c.6113C>A (p.Thr2038Asn)
c.5321C>A (p.Thr1774Asn)
c.8483C>A (p.Thr2828Asn)
8g.60865425C>GCA371309822CHD7n.1662C>G
n.593C>G
c.*1545C>G (n.*1545C>G)
c.8486C>G (p.Thr2829Ser)
c.2339C>G (p.Thr780Ser)
n.532C>G
c.8576C>G (p.Thr2859Ser)
c.8573C>G (p.Thr2858Ser)
c.8354C>G (p.Thr2785Ser)
c.6563C>G (p.Thr2188Ser)
c.6113C>G (p.Thr2038Ser)
c.5321C>G (p.Thr1774Ser)
c.8483C>G (p.Thr2828Ser)
8g.60865425C>TCA371309825CHD7n.1662C>T
n.593C>T
c.*1545C>T (n.*1545C>T)
c.8486C>T (p.Thr2829Ile)
c.2339C>T (p.Thr780Ile)
n.532C>T
c.8576C>T (p.Thr2859Ile)
c.8573C>T (p.Thr2858Ile)
c.8354C>T (p.Thr2785Ile)
c.6563C>T (p.Thr2188Ile)
c.6113C>T (p.Thr2038Ile)
c.5321C>T (p.Thr1774Ile)
c.8483C>T (p.Thr2828Ile)
8g.60865426T>ACA461106116CHD7n.1663T>A
n.594T>A
c.*1546T>A (n.*1546T>A)
c.8487T>A (p.Thr2829=)
c.2340T>A (p.Thr780=)
n.533T>A
c.8577T>A (p.Thr2859=)
c.8574T>A (p.Thr2858=)
c.8355T>A (p.Thr2785=)
c.6564T>A (p.Thr2188=)
c.6114T>A (p.Thr2038=)
c.5322T>A (p.Thr1774=)
c.8484T>A (p.Thr2828=)
8g.60865426T>CCA461106117CHD7n.1663T>C
n.594T>C
c.*1546T>C (n.*1546T>C)
c.8487T>C (p.Thr2829=)
c.2340T>C (p.Thr780=)
n.533T>C
c.8577T>C (p.Thr2859=)
c.8574T>C (p.Thr2858=)
c.8355T>C (p.Thr2785=)
c.6564T>C (p.Thr2188=)
c.6114T>C (p.Thr2038=)
c.5322T>C (p.Thr1774=)
c.8484T>C (p.Thr2828=)
8g.60865426T>GCA461106118CHD7n.1663T>G
n.594T>G
c.*1546T>G (n.*1546T>G)
c.8487T>G (p.Thr2829=)
c.2340T>G (p.Thr780=)
n.533T>G
c.8577T>G (p.Thr2859=)
c.8574T>G (p.Thr2858=)
c.8355T>G (p.Thr2785=)
c.6564T>G (p.Thr2188=)
c.6114T>G (p.Thr2038=)
c.5322T>G (p.Thr1774=)
c.8484T>G (p.Thr2828=)
8g.60865427G>ACA4761023CHD7n.1664G>A
n.595G>A
c.*1547G>A (n.*1547G>A)
c.8488G>A (p.Ala2830Thr)
c.2341G>A (p.Ala781Thr)
n.534G>A
c.8578G>A (p.Ala2860Thr)
c.8575G>A (p.Ala2859Thr)
c.8356G>A (p.Ala2786Thr)
c.6565G>A (p.Ala2189Thr)
c.6115G>A (p.Ala2039Thr)
c.5323G>A (p.Ala1775Thr)
c.8485G>A (p.Ala2829Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60865427G>CCA371309831CHD7n.1664G>C
n.595G>C
c.*1547G>C (n.*1547G>C)
c.8488G>C (p.Ala2830Pro)
c.2341G>C (p.Ala781Pro)
n.534G>C
c.8578G>C (p.Ala2860Pro)
c.8575G>C (p.Ala2859Pro)
c.8356G>C (p.Ala2786Pro)
c.6565G>C (p.Ala2189Pro)
c.6115G>C (p.Ala2039Pro)
c.5323G>C (p.Ala1775Pro)
c.8485G>C (p.Ala2829Pro)
8g.60865427G=CA1788130371CHD7n.1664G=
n.595G=
c.*1547G= (n.*1547G=)
c.8488G= (p.Ala2830=)
c.2341G= (p.Ala781=)
n.534G=
c.8578G= (p.Ala2860=)
c.8575G= (p.Ala2859=)
c.8356G= (p.Ala2786=)
c.6565G= (p.Ala2189=)
c.6115G= (p.Ala2039=)
c.5323G= (p.Ala1775=)
c.8485G= (p.Ala2829=)
8g.60865427G>TCA371309835CHD7n.1664G>T
n.595G>T
c.*1547G>T (n.*1547G>T)
c.8488G>T (p.Ala2830Ser)
c.2341G>T (p.Ala781Ser)
n.534G>T
c.8578G>T (p.Ala2860Ser)
c.8575G>T (p.Ala2859Ser)
c.8356G>T (p.Ala2786Ser)
c.6565G>T (p.Ala2189Ser)
c.6115G>T (p.Ala2039Ser)
c.5323G>T (p.Ala1775Ser)
c.8485G>T (p.Ala2829Ser)
8g.60865428C>ACA371309849CHD7n.1665C>A
n.596C>A
c.*1548C>A (n.*1548C>A)
c.8489C>A (p.Ala2830Asp)
c.2342C>A (p.Ala781Asp)
n.535C>A
c.8579C>A (p.Ala2860Asp)
c.8576C>A (p.Ala2859Asp)
c.8357C>A (p.Ala2786Asp)
c.6566C>A (p.Ala2189Asp)
c.6116C>A (p.Ala2039Asp)
c.5324C>A (p.Ala1775Asp)
c.8486C>A (p.Ala2829Asp)
8g.60865428C>GCA371309839CHD7n.1665C>G
n.596C>G
c.*1548C>G (n.*1548C>G)
c.8489C>G (p.Ala2830Gly)
c.2342C>G (p.Ala781Gly)
n.535C>G
c.8579C>G (p.Ala2860Gly)
c.8576C>G (p.Ala2859Gly)
c.8357C>G (p.Ala2786Gly)
c.6566C>G (p.Ala2189Gly)
c.6116C>G (p.Ala2039Gly)
c.5324C>G (p.Ala1775Gly)
c.8486C>G (p.Ala2829Gly)
8g.60865428C>TCA371309844CHD7n.1665C>T
n.596C>T
c.*1548C>T (n.*1548C>T)
c.8489C>T (p.Ala2830Val)
c.2342C>T (p.Ala781Val)
n.535C>T
c.8579C>T (p.Ala2860Val)
c.8576C>T (p.Ala2859Val)
c.8357C>T (p.Ala2786Val)
c.6566C>T (p.Ala2189Val)
c.6116C>T (p.Ala2039Val)
c.5324C>T (p.Ala1775Val)
c.8486C>T (p.Ala2829Val)
8g.60865429T>ACA4761024CHD7n.1666T>A
n.597T>A
c.*1549T>A (n.*1549T>A)
c.8490T>A (p.Ala2830=)
c.2343T>A (p.Ala781=)
n.536T>A
c.8580T>A (p.Ala2860=)
c.8577T>A (p.Ala2859=)
c.8358T>A (p.Ala2786=)
c.6567T>A (p.Ala2189=)
c.6117T>A (p.Ala2039=)
c.5325T>A (p.Ala1775=)
c.8487T>A (p.Ala2829=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60865429T>CCA461106122CHD7n.1666T>C
n.597T>C
c.*1549T>C (n.*1549T>C)
c.8490T>C (p.Ala2830=)
c.2343T>C (p.Ala781=)
n.536T>C
c.8580T>C (p.Ala2860=)
c.8577T>C (p.Ala2859=)
c.8358T>C (p.Ala2786=)
c.6567T>C (p.Ala2189=)
c.6117T>C (p.Ala2039=)
c.5325T>C (p.Ala1775=)
c.8487T>C (p.Ala2829=)
 ClinVar dbSNP gnomAD v4
8g.60865429T>GCA461106123CHD7n.1666T>G
n.597T>G
c.*1549T>G (n.*1549T>G)
c.8490T>G (p.Ala2830=)
c.2343T>G (p.Ala781=)
n.536T>G
c.8580T>G (p.Ala2860=)
c.8577T>G (p.Ala2859=)
c.8358T>G (p.Ala2786=)
c.6567T>G (p.Ala2189=)
c.6117T>G (p.Ala2039=)
c.5325T>G (p.Ala1775=)
c.8487T>G (p.Ala2829=)
8g.60865429T=CA1788130381CHD7n.1666T=
n.597T=
c.*1549T= (n.*1549T=)
c.8490T= (p.Ala2830=)
c.2343T= (p.Ala781=)
n.536T=
c.8580T= (p.Ala2860=)
c.8577T= (p.Ala2859=)
c.8358T= (p.Ala2786=)
c.6567T= (p.Ala2189=)
c.6117T= (p.Ala2039=)
c.5325T= (p.Ala1775=)
c.8487T= (p.Ala2829=)
8g.60865430delCA2695203185CHD7n.1667del
n.598del
c.*1550del (n.*1550del)
c.8491del (p.Ser2831LeufsTer?)
c.2344del (p.Ser782LeufsTer?)
n.537del
c.8581del (p.Ser2861LeufsTer?)
c.8578del (p.Ser2860LeufsTer?)
c.8359del (p.Ser2787LeufsTer?)
c.6568del (p.Ser2190LeufsTer?)
c.6118del (p.Ser2040LeufsTer?)
c.5326del (p.Ser1776LeufsTer?)
c.8488del (p.Ser2830LeufsTer?)
8g.60865430T>ACA371309858CHD7n.1667T>A
n.598T>A
c.*1550T>A (n.*1550T>A)
c.8491T>A (p.Ser2831Thr)
c.2344T>A (p.Ser782Thr)
n.537T>A
c.8581T>A (p.Ser2861Thr)
c.8578T>A (p.Ser2860Thr)
c.8359T>A (p.Ser2787Thr)
c.6568T>A (p.Ser2190Thr)
c.6118T>A (p.Ser2040Thr)
c.5326T>A (p.Ser1776Thr)
c.8488T>A (p.Ser2830Thr)
8g.60865430T>CCA371309865CHD7n.1667T>C
n.598T>C
c.*1550T>C (n.*1550T>C)
c.8491T>C (p.Ser2831Pro)
c.2344T>C (p.Ser782Pro)
n.537T>C
c.8581T>C (p.Ser2861Pro)
c.8578T>C (p.Ser2860Pro)
c.8359T>C (p.Ser2787Pro)
c.6568T>C (p.Ser2190Pro)
c.6118T>C (p.Ser2040Pro)
c.5326T>C (p.Ser1776Pro)
c.8488T>C (p.Ser2830Pro)
8g.60865430T>GCA371309869CHD7n.1667T>G
n.598T>G
c.*1550T>G (n.*1550T>G)
c.8491T>G (p.Ser2831Ala)
c.2344T>G (p.Ser782Ala)
n.537T>G
c.8581T>G (p.Ser2861Ala)
c.8578T>G (p.Ser2860Ala)
c.8359T>G (p.Ser2787Ala)
c.6568T>G (p.Ser2190Ala)
c.6118T>G (p.Ser2040Ala)
c.5326T>G (p.Ser1776Ala)
c.8488T>G (p.Ser2830Ala)
8g.60865431C>ACA371309873CHD7n.1668C>A
n.599C>A
c.*1551C>A (n.*1551C>A)
c.8492C>A (p.Ser2831Tyr)
c.2345C>A (p.Ser782Tyr)
n.538C>A
c.8582C>A (p.Ser2861Tyr)
c.8579C>A (p.Ser2860Tyr)
c.8360C>A (p.Ser2787Tyr)
c.6569C>A (p.Ser2190Tyr)
c.6119C>A (p.Ser2040Tyr)
c.5327C>A (p.Ser1776Tyr)
c.8489C>A (p.Ser2830Tyr)
8g.60865431C=CA1788130397CHD7n.1668C=
n.599C=
c.*1551C= (n.*1551C=)
c.8492C= (p.Ser2831=)
c.2345C= (p.Ser782=)
n.538C=
c.8582C= (p.Ser2861=)
c.8579C= (p.Ser2860=)
c.8360C= (p.Ser2787=)
c.6569C= (p.Ser2190=)
c.6119C= (p.Ser2040=)
c.5327C= (p.Ser1776=)
c.8489C= (p.Ser2830=)
8g.60865431C>GCA371309877CHD7n.1668C>G
n.599C>G
c.*1551C>G (n.*1551C>G)
c.8492C>G (p.Ser2831Cys)
c.2345C>G (p.Ser782Cys)
n.538C>G
c.8582C>G (p.Ser2861Cys)
c.8579C>G (p.Ser2860Cys)
c.8360C>G (p.Ser2787Cys)
c.6569C>G (p.Ser2190Cys)
c.6119C>G (p.Ser2040Cys)
c.5327C>G (p.Ser1776Cys)
c.8489C>G (p.Ser2830Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.60865431C>TCA371309880CHD7n.1668C>T
n.599C>T
c.*1551C>T (n.*1551C>T)
c.8492C>T (p.Ser2831Phe)
c.2345C>T (p.Ser782Phe)
n.538C>T
c.8582C>T (p.Ser2861Phe)
c.8579C>T (p.Ser2860Phe)
c.8360C>T (p.Ser2787Phe)
c.6569C>T (p.Ser2190Phe)
c.6119C>T (p.Ser2040Phe)
c.5327C>T (p.Ser1776Phe)
c.8489C>T (p.Ser2830Phe)
8g.60865432T>ACA461106129CHD7n.1669T>A
n.600T>A
c.*1552T>A (n.*1552T>A)
c.8493T>A (p.Ser2831=)
c.2346T>A (p.Ser782=)
n.539T>A
c.8583T>A (p.Ser2861=)
c.8580T>A (p.Ser2860=)
c.8361T>A (p.Ser2787=)
c.6570T>A (p.Ser2190=)
c.6120T>A (p.Ser2040=)
c.5328T>A (p.Ser1776=)
c.8490T>A (p.Ser2830=)
8g.60865432T>CCA461106130CHD7n.1669T>C
n.600T>C
c.*1552T>C (n.*1552T>C)
c.8493T>C (p.Ser2831=)
c.2346T>C (p.Ser782=)
n.539T>C
c.8583T>C (p.Ser2861=)
c.8580T>C (p.Ser2860=)
c.8361T>C (p.Ser2787=)
c.6570T>C (p.Ser2190=)
c.6120T>C (p.Ser2040=)
c.5328T>C (p.Ser1776=)
c.8490T>C (p.Ser2830=)
8g.60865432T>GCA461106131CHD7n.1669T>G
n.600T>G
c.*1552T>G (n.*1552T>G)
c.8493T>G (p.Ser2831=)
c.2346T>G (p.Ser782=)
n.539T>G
c.8583T>G (p.Ser2861=)
c.8580T>G (p.Ser2860=)
c.8361T>G (p.Ser2787=)
c.6570T>G (p.Ser2190=)
c.6120T>G (p.Ser2040=)
c.5328T>G (p.Ser1776=)
c.8490T>G (p.Ser2830=)
8g.60865433A>CCA371309895CHD7n.1670A>C
n.601A>C
c.*1553A>C (n.*1553A>C)
c.8494A>C (p.Ser2832Arg)
c.2347A>C (p.Ser783Arg)
n.540A>C
c.8584A>C (p.Ser2862Arg)
c.8581A>C (p.Ser2861Arg)
c.8362A>C (p.Ser2788Arg)
c.6571A>C (p.Ser2191Arg)
c.6121A>C (p.Ser2041Arg)
c.5329A>C (p.Ser1777Arg)
c.8491A>C (p.Ser2831Arg)
 gnomAD v4
8g.60865433A>GCA371309888CHD7n.1670A>G
n.601A>G
c.*1553A>G (n.*1553A>G)
c.8494A>G (p.Ser2832Gly)
c.2347A>G (p.Ser783Gly)
n.540A>G
c.8584A>G (p.Ser2862Gly)
c.8581A>G (p.Ser2861Gly)
c.8362A>G (p.Ser2788Gly)
c.6571A>G (p.Ser2191Gly)
c.6121A>G (p.Ser2041Gly)
c.5329A>G (p.Ser1777Gly)
c.8491A>G (p.Ser2831Gly)
8g.60865433A>TCA371309891CHD7n.1670A>T
n.601A>T
c.*1553A>T (n.*1553A>T)
c.8494A>T (p.Ser2832Cys)
c.2347A>T (p.Ser783Cys)
n.540A>T
c.8584A>T (p.Ser2862Cys)
c.8581A>T (p.Ser2861Cys)
c.8362A>T (p.Ser2788Cys)
c.6571A>T (p.Ser2191Cys)
c.6121A>T (p.Ser2041Cys)
c.5329A>T (p.Ser1777Cys)
c.8491A>T (p.Ser2831Cys)
8g.60865434G>ACA4761025CHD7n.1671G>A
n.602G>A
c.*1554G>A (n.*1554G>A)
c.8495G>A (p.Ser2832Asn)
c.2348G>A (p.Ser783Asn)
n.541G>A
c.8585G>A (p.Ser2862Asn)
c.8582G>A (p.Ser2861Asn)
c.8363G>A (p.Ser2788Asn)
c.6572G>A (p.Ser2191Asn)
c.6122G>A (p.Ser2041Asn)
c.5330G>A (p.Ser1777Asn)
c.8492G>A (p.Ser2831Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60865434G>CCA371309901CHD7n.1671G>C
n.602G>C
c.*1554G>C (n.*1554G>C)
c.8495G>C (p.Ser2832Thr)
c.2348G>C (p.Ser783Thr)
n.541G>C
c.8585G>C (p.Ser2862Thr)
c.8582G>C (p.Ser2861Thr)
c.8363G>C (p.Ser2788Thr)
c.6572G>C (p.Ser2191Thr)
c.6122G>C (p.Ser2041Thr)
c.5330G>C (p.Ser1777Thr)
c.8492G>C (p.Ser2831Thr)
8g.60865434G=CA1788130406CHD7n.1671G=
n.602G=
c.*1554G= (n.*1554G=)
c.8495G= (p.Ser2832=)
c.2348G= (p.Ser783=)
n.541G=
c.8585G= (p.Ser2862=)
c.8582G= (p.Ser2861=)
c.8363G= (p.Ser2788=)
c.6572G= (p.Ser2191=)
c.6122G= (p.Ser2041=)
c.5330G= (p.Ser1777=)
c.8492G= (p.Ser2831=)
8g.60865434G>TCA371309915CHD7n.1671G>T
n.602G>T
c.*1554G>T (n.*1554G>T)
c.8495G>T (p.Ser2832Ile)
c.2348G>T (p.Ser783Ile)
n.541G>T
c.8585G>T (p.Ser2862Ile)
c.8582G>T (p.Ser2861Ile)
c.8363G>T (p.Ser2788Ile)
c.6572G>T (p.Ser2191Ile)
c.6122G>T (p.Ser2041Ile)
c.5330G>T (p.Ser1777Ile)
c.8492G>T (p.Ser2831Ile)
8g.60865435T>ACA371309922CHD7n.1672T>A
n.603T>A
c.*1555T>A (n.*1555T>A)
c.8496T>A (p.Ser2832Arg)
c.2349T>A (p.Ser783Arg)
n.542T>A
c.8586T>A (p.Ser2862Arg)
c.8583T>A (p.Ser2861Arg)
c.8364T>A (p.Ser2788Arg)
c.6573T>A (p.Ser2191Arg)
c.6123T>A (p.Ser2041Arg)
c.5331T>A (p.Ser1777Arg)
c.8493T>A (p.Ser2831Arg)
8g.60865435T>CCA461106136CHD7n.1672T>C
n.603T>C
c.*1555T>C (n.*1555T>C)
c.8496T>C (p.Ser2832=)
c.2349T>C (p.Ser783=)
n.542T>C
c.8586T>C (p.Ser2862=)
c.8583T>C (p.Ser2861=)
c.8364T>C (p.Ser2788=)
c.6573T>C (p.Ser2191=)
c.6123T>C (p.Ser2041=)
c.5331T>C (p.Ser1777=)
c.8493T>C (p.Ser2831=)
 gnomAD v4
8g.60865435T>GCA371309925CHD7n.1672T>G
n.603T>G
c.*1555T>G (n.*1555T>G)
c.8496T>G (p.Ser2832Arg)
c.2349T>G (p.Ser783Arg)
n.542T>G
c.8586T>G (p.Ser2862Arg)
c.8583T>G (p.Ser2861Arg)
c.8364T>G (p.Ser2788Arg)
c.6573T>G (p.Ser2191Arg)
c.6123T>G (p.Ser2041Arg)
c.5331T>G (p.Ser1777Arg)
c.8493T>G (p.Ser2831Arg)
8g.60865436C>ACA371309935CHD7n.1673C>A
n.604C>A
c.*1556C>A (n.*1556C>A)
c.8497C>A (p.Gln2833Lys)
c.2350C>A (p.Gln784Lys)
n.543C>A
c.8587C>A (p.Gln2863Lys)
c.8584C>A (p.Gln2862Lys)
c.8365C>A (p.Gln2789Lys)
c.6574C>A (p.Gln2192Lys)
c.6124C>A (p.Gln2042Lys)
c.5332C>A (p.Gln1778Lys)
c.8494C>A (p.Gln2832Lys)
8g.60865436C>GCA371309937CHD7n.1673C>G
n.604C>G
c.*1556C>G (n.*1556C>G)
c.8497C>G (p.Gln2833Glu)
c.2350C>G (p.Gln784Glu)
n.543C>G
c.8587C>G (p.Gln2863Glu)
c.8584C>G (p.Gln2862Glu)
c.8365C>G (p.Gln2789Glu)
c.6574C>G (p.Gln2192Glu)
c.6124C>G (p.Gln2042Glu)
c.5332C>G (p.Gln1778Glu)
c.8494C>G (p.Gln2832Glu)
8g.60865436C>TCA371309936CHD7n.1673C>T
n.604C>T
c.*1556C>T (n.*1556C>T)
c.8497C>T (p.Gln2833Ter)
c.2350C>T (p.Gln784Ter)
n.543C>T
c.8587C>T (p.Gln2863Ter)
c.8584C>T (p.Gln2862Ter)
c.8365C>T (p.Gln2789Ter)
c.6574C>T (p.Gln2192Ter)
c.6124C>T (p.Gln2042Ter)
c.5332C>T (p.Gln1778Ter)
c.8494C>T (p.Gln2832Ter)
 gnomAD v4
8g.60865437A>CCA371309942CHD7n.1674A>C
n.605A>C
c.*1557A>C (n.*1557A>C)
c.8498A>C (p.Gln2833Pro)
c.2351A>C (p.Gln784Pro)
n.544A>C
c.8588A>C (p.Gln2863Pro)
c.8585A>C (p.Gln2862Pro)
c.8366A>C (p.Gln2789Pro)
c.6575A>C (p.Gln2192Pro)
c.6125A>C (p.Gln2042Pro)
c.5333A>C (p.Gln1778Pro)
c.8495A>C (p.Gln2832Pro)
8g.60865437A>GCA371309943CHD7n.1674A>G
n.605A>G
c.*1557A>G (n.*1557A>G)
c.8498A>G (p.Gln2833Arg)
c.2351A>G (p.Gln784Arg)
n.544A>G
c.8588A>G (p.Gln2863Arg)
c.8585A>G (p.Gln2862Arg)
c.8366A>G (p.Gln2789Arg)
c.6575A>G (p.Gln2192Arg)
c.6125A>G (p.Gln2042Arg)
c.5333A>G (p.Gln1778Arg)
c.8495A>G (p.Gln2832Arg)
8g.60865437A>TCA371309945CHD7n.1674A>T
n.605A>T
c.*1557A>T (n.*1557A>T)
c.8498A>T (p.Gln2833Leu)
c.2351A>T (p.Gln784Leu)
n.544A>T
c.8588A>T (p.Gln2863Leu)
c.8585A>T (p.Gln2862Leu)
c.8366A>T (p.Gln2789Leu)
c.6575A>T (p.Gln2192Leu)
c.6125A>T (p.Gln2042Leu)
c.5333A>T (p.Gln1778Leu)
c.8495A>T (p.Gln2832Leu)
8g.60865437_60865440delinsAAGGCA1788130412CHD7n.1674_1677delinsAAGG
n.605_608delinsAAGG
c.*1557_*1560delinsAAGG (n.*1557_*1560delinsAAGG)
c.8498_8501delinsAAGG (p.Gln2833=)
c.2351_2354delinsAAGG (p.Gln784=)
n.544_547delinsAAGG
c.8588_8591delinsAAGG (p.Gln2863=)
c.8585_8588delinsAAGG (p.Gln2862=)
c.8366_8369delinsAAGG (p.Gln2789=)
c.6575_6578delinsAAGG (p.Gln2192=)
c.6125_6128delinsAAGG (p.Gln2042=)
c.5333_5336delinsAAGG (p.Gln1778=)
c.8495_8498delinsAAGG (p.Gln2832=)
8g.60865438A>CCA371309951CHD7n.1675A>C
n.606A>C
c.*1558A>C (n.*1558A>C)
c.8499A>C (p.Gln2833His)
c.2352A>C (p.Gln784His)
n.545A>C
c.8589A>C (p.Gln2863His)
c.8586A>C (p.Gln2862His)
c.8367A>C (p.Gln2789His)
c.6576A>C (p.Gln2192His)
c.6126A>C (p.Gln2042His)
c.5334A>C (p.Gln1778His)
c.8496A>C (p.Gln2832His)
8g.60865438A>GCA461106138CHD7n.1675A>G
n.606A>G
c.*1558A>G (n.*1558A>G)
c.8499A>G (p.Gln2833=)
c.2352A>G (p.Gln784=)
n.545A>G
c.8589A>G (p.Gln2863=)
c.8586A>G (p.Gln2862=)
c.8367A>G (p.Gln2789=)
c.6576A>G (p.Gln2192=)
c.6126A>G (p.Gln2042=)
c.5334A>G (p.Gln1778=)
c.8496A>G (p.Gln2832=)
8g.60865438A>TCA371309955CHD7n.1675A>T
n.606A>T
c.*1558A>T (n.*1558A>T)
c.8499A>T (p.Gln2833His)
c.2352A>T (p.Gln784His)
n.545A>T
c.8589A>T (p.Gln2863His)
c.8586A>T (p.Gln2862His)
c.8367A>T (p.Gln2789His)
c.6576A>T (p.Gln2192His)
c.6126A>T (p.Gln2042His)
c.5334A>T (p.Gln1778His)
c.8496A>T (p.Gln2832His)
 gnomAD v4
8g.60865440_60865442delCA1788130417CHD7n.1677_1679del
n.608_610del
c.*1560_*1562del (n.*1560_*1562del)
c.8501_8503del (p.Gly2834del)
c.2354_2356del (p.Gly785del)
n.547_549del
c.8591_8593del (p.Gly2864del)
c.8588_8590del (p.Gly2863del)
c.8369_8371del (p.Gly2790del)
c.6578_6580del (p.Gly2193del)
c.6128_6130del (p.Gly2043del)
c.5336_5338del (p.Gly1779del)
c.8498_8500del (p.Gly2833del)
 dbSNP
8g.60865439G>ACA371309960CHD7n.1676G>A
n.607G>A
c.*1559G>A (n.*1559G>A)
c.8500G>A (p.Gly2834Arg)
c.2353G>A (p.Gly785Arg)
n.546G>A
c.8590G>A (p.Gly2864Arg)
c.8587G>A (p.Gly2863Arg)
c.8368G>A (p.Gly2790Arg)
c.6577G>A (p.Gly2193Arg)
c.6127G>A (p.Gly2043Arg)
c.5335G>A (p.Gly1779Arg)
c.8497G>A (p.Gly2833Arg)
8g.60865439G>CCA371309961CHD7n.1676G>C
n.607G>C
c.*1559G>C (n.*1559G>C)
c.8500G>C (p.Gly2834Arg)
c.2353G>C (p.Gly785Arg)
n.546G>C
c.8590G>C (p.Gly2864Arg)
c.8587G>C (p.Gly2863Arg)
c.8368G>C (p.Gly2790Arg)
c.6577G>C (p.Gly2193Arg)
c.6127G>C (p.Gly2043Arg)
c.5335G>C (p.Gly1779Arg)
c.8497G>C (p.Gly2833Arg)
8g.60865439G>TCA371309962CHD7n.1676G>T
n.607G>T
c.*1559G>T (n.*1559G>T)
c.8500G>T (p.Gly2834Ter)
c.2353G>T (p.Gly785Ter)
n.546G>T
c.8590G>T (p.Gly2864Ter)
c.8587G>T (p.Gly2863Ter)
c.8368G>T (p.Gly2790Ter)
c.6577G>T (p.Gly2193Ter)
c.6127G>T (p.Gly2043Ter)
c.5335G>T (p.Gly1779Ter)
c.8497G>T (p.Gly2833Ter)
8g.60865440G>ACA371309965CHD7n.1677G>A
n.608G>A
c.*1560G>A (n.*1560G>A)
c.8501G>A (p.Gly2834Glu)
c.2354G>A (p.Gly785Glu)
n.547G>A
c.8591G>A (p.Gly2864Glu)
c.8588G>A (p.Gly2863Glu)
c.8369G>A (p.Gly2790Glu)
c.6578G>A (p.Gly2193Glu)
c.6128G>A (p.Gly2043Glu)
c.5336G>A (p.Gly1779Glu)
c.8498G>A (p.Gly2833Glu)
8g.60865440G>CCA371309968CHD7n.1677G>C
n.608G>C
c.*1560G>C (n.*1560G>C)
c.8501G>C (p.Gly2834Ala)
c.2354G>C (p.Gly785Ala)
n.547G>C
c.8591G>C (p.Gly2864Ala)
c.8588G>C (p.Gly2863Ala)
c.8369G>C (p.Gly2790Ala)
c.6578G>C (p.Gly2193Ala)
c.6128G>C (p.Gly2043Ala)
c.5336G>C (p.Gly1779Ala)
c.8498G>C (p.Gly2833Ala)
 dbSNP
8g.60865440G=CA1788130425CHD7n.1677G=
n.608G=
c.*1560G= (n.*1560G=)
c.8501G= (p.Gly2834=)
c.2354G= (p.Gly785=)
n.547G=
c.8591G= (p.Gly2864=)
c.8588G= (p.Gly2863=)
c.8369G= (p.Gly2790=)
c.6578G= (p.Gly2193=)
c.6128G= (p.Gly2043=)
c.5336G= (p.Gly1779=)
c.8498G= (p.Gly2833=)
8g.60865440G>TCA371309971CHD7n.1677G>T
n.608G>T
c.*1560G>T (n.*1560G>T)
c.8501G>T (p.Gly2834Val)
c.2354G>T (p.Gly785Val)
n.547G>T
c.8591G>T (p.Gly2864Val)
c.8588G>T (p.Gly2863Val)
c.8369G>T (p.Gly2790Val)
c.6578G>T (p.Gly2193Val)
c.6128G>T (p.Gly2043Val)
c.5336G>T (p.Gly1779Val)
c.8498G>T (p.Gly2833Val)
8g.60865441A>CCA461106140CHD7n.1678A>C
n.609A>C
c.*1561A>C (n.*1561A>C)
c.8502A>C (p.Gly2834=)
c.2355A>C (p.Gly785=)
n.548A>C
c.8592A>C (p.Gly2864=)
c.8589A>C (p.Gly2863=)
c.8370A>C (p.Gly2790=)
c.6579A>C (p.Gly2193=)
c.6129A>C (p.Gly2043=)
c.5337A>C (p.Gly1779=)
c.8499A>C (p.Gly2833=)
8g.60865441A>GCA461106141CHD7n.1678A>G
n.609A>G
c.*1561A>G (n.*1561A>G)
c.8502A>G (p.Gly2834=)
c.2355A>G (p.Gly785=)
n.548A>G
c.8592A>G (p.Gly2864=)
c.8589A>G (p.Gly2863=)
c.8370A>G (p.Gly2790=)
c.6579A>G (p.Gly2193=)
c.6129A>G (p.Gly2043=)
c.5337A>G (p.Gly1779=)
c.8499A>G (p.Gly2833=)
 gnomAD v4
8g.60865441A>TCA461106142CHD7n.1678A>T
n.609A>T
c.*1561A>T (n.*1561A>T)
c.8502A>T (p.Gly2834=)
c.2355A>T (p.Gly785=)
n.548A>T
c.8592A>T (p.Gly2864=)
c.8589A>T (p.Gly2863=)
c.8370A>T (p.Gly2790=)
c.6579A>T (p.Gly2193=)
c.6129A>T (p.Gly2043=)
c.5337A>T (p.Gly1779=)
c.8499A>T (p.Gly2833=)
8g.60865442G>ACA371309978CHD7n.1679G>A
n.610G>A
c.*1562G>A (n.*1562G>A)
c.8503G>A (p.Glu2835Lys)
c.2356G>A (p.Glu786Lys)
n.549G>A
c.8593G>A (p.Glu2865Lys)
c.8590G>A (p.Glu2864Lys)
c.8371G>A (p.Glu2791Lys)
c.6580G>A (p.Glu2194Lys)
c.6130G>A (p.Glu2044Lys)
c.5338G>A (p.Glu1780Lys)
c.8500G>A (p.Glu2834Lys)
 gnomAD v4
8g.60865442G>CCA371309987CHD7n.1679G>C
n.610G>C
c.*1562G>C (n.*1562G>C)
c.8503G>C (p.Glu2835Gln)
c.2356G>C (p.Glu786Gln)
n.549G>C
c.8593G>C (p.Glu2865Gln)
c.8590G>C (p.Glu2864Gln)
c.8371G>C (p.Glu2791Gln)
c.6580G>C (p.Glu2194Gln)
c.6130G>C (p.Glu2044Gln)
c.5338G>C (p.Glu1780Gln)
c.8500G>C (p.Glu2834Gln)
8g.60865442G>TCA371309981CHD7n.1679G>T
n.610G>T
c.*1562G>T (n.*1562G>T)
c.8503G>T (p.Glu2835Ter)
c.2356G>T (p.Glu786Ter)
n.549G>T
c.8593G>T (p.Glu2865Ter)
c.8590G>T (p.Glu2864Ter)
c.8371G>T (p.Glu2791Ter)
c.6580G>T (p.Glu2194Ter)
c.6130G>T (p.Glu2044Ter)
c.5338G>T (p.Glu1780Ter)
c.8500G>T (p.Glu2834Ter)
8g.60865443A>CCA371309992CHD7n.1680A>C
n.611A>C
c.*1563A>C (n.*1563A>C)
c.8504A>C (p.Glu2835Ala)
c.2357A>C (p.Glu786Ala)
n.550A>C
c.8594A>C (p.Glu2865Ala)
c.8591A>C (p.Glu2864Ala)
c.8372A>C (p.Glu2791Ala)
c.6581A>C (p.Glu2194Ala)
c.6131A>C (p.Glu2044Ala)
c.5339A>C (p.Glu1780Ala)
c.8501A>C (p.Glu2834Ala)
8g.60865443A>GCA371309999CHD7n.1680A>G
n.611A>G
c.*1563A>G (n.*1563A>G)
c.8504A>G (p.Glu2835Gly)
c.2357A>G (p.Glu786Gly)
n.550A>G
c.8594A>G (p.Glu2865Gly)
c.8591A>G (p.Glu2864Gly)
c.8372A>G (p.Glu2791Gly)
c.6581A>G (p.Glu2194Gly)
c.6131A>G (p.Glu2044Gly)
c.5339A>G (p.Glu1780Gly)
c.8501A>G (p.Glu2834Gly)
8g.60865443A>TCA371309996CHD7n.1680A>T
n.611A>T
c.*1563A>T (n.*1563A>T)
c.8504A>T (p.Glu2835Val)
c.2357A>T (p.Glu786Val)
n.550A>T
c.8594A>T (p.Glu2865Val)
c.8591A>T (p.Glu2864Val)
c.8372A>T (p.Glu2791Val)
c.6581A>T (p.Glu2194Val)
c.6131A>T (p.Glu2044Val)
c.5339A>T (p.Glu1780Val)
c.8501A>T (p.Glu2834Val)
8g.60865444A>CCA371310006CHD7n.1681A>C
n.612A>C
c.*1564A>C (n.*1564A>C)
c.8505A>C (p.Glu2835Asp)
c.2358A>C (p.Glu786Asp)
n.551A>C
c.8595A>C (p.Glu2865Asp)
c.8592A>C (p.Glu2864Asp)
c.8373A>C (p.Glu2791Asp)
c.6582A>C (p.Glu2194Asp)
c.6132A>C (p.Glu2044Asp)
c.5340A>C (p.Glu1780Asp)
c.8502A>C (p.Glu2834Asp)
8g.60865444A>GCA461106147CHD7n.1681A>G
n.612A>G
c.*1564A>G (n.*1564A>G)
c.8505A>G (p.Glu2835=)
c.2358A>G (p.Glu786=)
n.551A>G
c.8595A>G (p.Glu2865=)
c.8592A>G (p.Glu2864=)
c.8373A>G (p.Glu2791=)
c.6582A>G (p.Glu2194=)
c.6132A>G (p.Glu2044=)
c.5340A>G (p.Glu1780=)
c.8502A>G (p.Glu2834=)
8g.60865444A>TCA371310009CHD7n.1681A>T
n.612A>T
c.*1564A>T (n.*1564A>T)
c.8505A>T (p.Glu2835Asp)
c.2358A>T (p.Glu786Asp)
n.551A>T
c.8595A>T (p.Glu2865Asp)
c.8592A>T (p.Glu2864Asp)
c.8373A>T (p.Glu2791Asp)
c.6582A>T (p.Glu2194Asp)
c.6132A>T (p.Glu2044Asp)
c.5340A>T (p.Glu1780Asp)
c.8502A>T (p.Glu2834Asp)
8g.60865445C>ACA371310013CHD7n.1682C>A
n.613C>A
c.*1565C>A (n.*1565C>A)
c.8506C>A (p.Pro2836Thr)
c.2359C>A (p.Pro787Thr)
n.552C>A
c.8596C>A (p.Pro2866Thr)
c.8593C>A (p.Pro2865Thr)
c.8374C>A (p.Pro2792Thr)
c.6583C>A (p.Pro2195Thr)
c.6133C>A (p.Pro2045Thr)
c.5341C>A (p.Pro1781Thr)
c.8503C>A (p.Pro2835Thr)
8g.60865445C=CA1788130431CHD7n.1682C=
n.613C=
c.*1565C= (n.*1565C=)
c.8506C= (p.Pro2836=)
c.2359C= (p.Pro787=)
n.552C=
c.8596C= (p.Pro2866=)
c.8593C= (p.Pro2865=)
c.8374C= (p.Pro2792=)
c.6583C= (p.Pro2195=)
c.6133C= (p.Pro2045=)
c.5341C= (p.Pro1781=)
c.8503C= (p.Pro2835=)
8g.60865445C>GCA371310017CHD7n.1682C>G
n.613C>G
c.*1565C>G (n.*1565C>G)
c.8506C>G (p.Pro2836Ala)
c.2359C>G (p.Pro787Ala)
n.552C>G
c.8596C>G (p.Pro2866Ala)
c.8593C>G (p.Pro2865Ala)
c.8374C>G (p.Pro2792Ala)
c.6583C>G (p.Pro2195Ala)
c.6133C>G (p.Pro2045Ala)
c.5341C>G (p.Pro1781Ala)
c.8503C>G (p.Pro2835Ala)
8g.60865445C>TCA371310020CHD7n.1682C>T
n.613C>T
c.*1565C>T (n.*1565C>T)
c.8506C>T (p.Pro2836Ser)
c.2359C>T (p.Pro787Ser)
n.552C>T
c.8596C>T (p.Pro2866Ser)
c.8593C>T (p.Pro2865Ser)
c.8374C>T (p.Pro2792Ser)
c.6583C>T (p.Pro2195Ser)
c.6133C>T (p.Pro2045Ser)
c.5341C>T (p.Pro1781Ser)
c.8503C>T (p.Pro2835Ser)
 dbSNP
8g.60865446delCA2695203186CHD7n.1683del
n.614del
c.*1566del (n.*1566del)
c.8507del (p.Pro2836ArgfsTer?)
c.2360del (p.Pro787ArgfsTer?)
n.553del
c.8597del (p.Pro2866ArgfsTer?)
c.8594del (p.Pro2865ArgfsTer?)
c.8375del (p.Pro2792ArgfsTer?)
c.6584del (p.Pro2195ArgfsTer?)
c.6134del (p.Pro2045ArgfsTer?)
c.5342del (p.Pro1781ArgfsTer?)
c.8504del (p.Pro2835ArgfsTer?)
8g.60865446C>ACA371310024CHD7n.1683C>A
n.614C>A
c.*1566C>A (n.*1566C>A)
c.8507C>A (p.Pro2836Gln)
c.2360C>A (p.Pro787Gln)
n.553C>A
c.8597C>A (p.Pro2866Gln)
c.8594C>A (p.Pro2865Gln)
c.8375C>A (p.Pro2792Gln)
c.6584C>A (p.Pro2195Gln)
c.6134C>A (p.Pro2045Gln)
c.5342C>A (p.Pro1781Gln)
c.8504C>A (p.Pro2835Gln)
8g.60865446C=CA1788130437CHD7n.1683C=
n.614C=
c.*1566C= (n.*1566C=)
c.8507C= (p.Pro2836=)
c.2360C= (p.Pro787=)
n.553C=
c.8597C= (p.Pro2866=)
c.8594C= (p.Pro2865=)
c.8375C= (p.Pro2792=)
c.6584C= (p.Pro2195=)
c.6134C= (p.Pro2045=)
c.5342C= (p.Pro1781=)
c.8504C= (p.Pro2835=)
8g.60865446C>GCA371310032CHD7n.1683C>G
n.614C>G
c.*1566C>G (n.*1566C>G)
c.8507C>G (p.Pro2836Arg)
c.2360C>G (p.Pro787Arg)
n.553C>G
c.8597C>G (p.Pro2866Arg)
c.8594C>G (p.Pro2865Arg)
c.8375C>G (p.Pro2792Arg)
c.6584C>G (p.Pro2195Arg)
c.6134C>G (p.Pro2045Arg)
c.5342C>G (p.Pro1781Arg)
c.8504C>G (p.Pro2835Arg)
8g.60865446C>TCA177329622CHD7n.1683C>T
n.614C>T
c.*1566C>T (n.*1566C>T)
c.8507C>T (p.Pro2836Leu)
c.2360C>T (p.Pro787Leu)
n.553C>T
c.8597C>T (p.Pro2866Leu)
c.8594C>T (p.Pro2865Leu)
c.8375C>T (p.Pro2792Leu)
c.6584C>T (p.Pro2195Leu)
c.6134C>T (p.Pro2045Leu)
c.5342C>T (p.Pro1781Leu)
c.8504C>T (p.Pro2835Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60865447G>ACA4761026CHD7n.1684G>A
n.615G>A
c.*1567G>A (n.*1567G>A)
c.8508G>A (p.Pro2836=)
c.2361G>A (p.Pro787=)
n.554G>A
c.8598G>A (p.Pro2866=)
c.8595G>A (p.Pro2865=)
c.8376G>A (p.Pro2792=)
c.6585G>A (p.Pro2195=)
c.6135G>A (p.Pro2045=)
c.5343G>A (p.Pro1781=)
c.8505G>A (p.Pro2835=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60865447G>CCA461106150CHD7n.1684G>C
n.615G>C
c.*1567G>C (n.*1567G>C)
c.8508G>C (p.Pro2836=)
c.2361G>C (p.Pro787=)
n.554G>C
c.8598G>C (p.Pro2866=)
c.8595G>C (p.Pro2865=)
c.8376G>C (p.Pro2792=)
c.6585G>C (p.Pro2195=)
c.6135G>C (p.Pro2045=)
c.5343G>C (p.Pro1781=)
c.8505G>C (p.Pro2835=)
 dbSNP gnomAD v4
8g.60865447G=CA1788130448CHD7n.1684G=
n.615G=
c.*1567G= (n.*1567G=)
c.8508G= (p.Pro2836=)
c.2361G= (p.Pro787=)
n.554G=
c.8598G= (p.Pro2866=)
c.8595G= (p.Pro2865=)
c.8376G= (p.Pro2792=)
c.6585G= (p.Pro2195=)
c.6135G= (p.Pro2045=)
c.5343G= (p.Pro1781=)
c.8505G= (p.Pro2835=)
8g.60865447G>TCA461106152CHD7n.1684G>T
n.615G>T
c.*1567G>T (n.*1567G>T)
c.8508G>T (p.Pro2836=)
c.2361G>T (p.Pro787=)
n.554G>T
c.8598G>T (p.Pro2866=)
c.8595G>T (p.Pro2865=)
c.8376G>T (p.Pro2792=)
c.6585G>T (p.Pro2195=)
c.6135G>T (p.Pro2045=)
c.5343G>T (p.Pro1781=)
c.8505G>T (p.Pro2835=)
8g.60865448delCA2780535767CHD7n.1685del
n.616del
c.*1568del (n.*1568del)
c.8509del (p.Glu2837LysfsTer?)
c.2362del (p.Glu788LysfsTer?)
n.555del
c.8599del (p.Glu2867LysfsTer?)
c.8596del (p.Glu2866LysfsTer?)
c.8377del (p.Glu2793LysfsTer?)
c.6586del (p.Glu2196LysfsTer?)
c.6136del (p.Glu2046LysfsTer?)
c.5344del (p.Glu1782LysfsTer?)
c.8506del (p.Glu2836LysfsTer?)
8g.60865448G>ACA4761027CHD7n.1685G>A
n.616G>A
c.*1568G>A (n.*1568G>A)
c.8509G>A (p.Glu2837Lys)
c.2362G>A (p.Glu788Lys)
n.555G>A
c.8599G>A (p.Glu2867Lys)
c.8596G>A (p.Glu2866Lys)
c.8377G>A (p.Glu2793Lys)
c.6586G>A (p.Glu2196Lys)
c.6136G>A (p.Glu2046Lys)
c.5344G>A (p.Glu1782Lys)
c.8506G>A (p.Glu2836Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60865448G>CCA371310042CHD7n.1685G>C
n.616G>C
c.*1568G>C (n.*1568G>C)
c.8509G>C (p.Glu2837Gln)
c.2362G>C (p.Glu788Gln)
n.555G>C
c.8599G>C (p.Glu2867Gln)
c.8596G>C (p.Glu2866Gln)
c.8377G>C (p.Glu2793Gln)
c.6586G>C (p.Glu2196Gln)
c.6136G>C (p.Glu2046Gln)
c.5344G>C (p.Glu1782Gln)
c.8506G>C (p.Glu2836Gln)
8g.60865448G=CA1788130451CHD7n.1685G=
n.616G=
c.*1568G= (n.*1568G=)
c.8509G= (p.Glu2837=)
c.2362G= (p.Glu788=)
n.555G=
c.8599G= (p.Glu2867=)
c.8596G= (p.Glu2866=)
c.8377G= (p.Glu2793=)
c.6586G= (p.Glu2196=)
c.6136G= (p.Glu2046=)
c.5344G= (p.Glu1782=)
c.8506G= (p.Glu2836=)
8g.60865448G>TCA371310043CHD7n.1685G>T
n.616G>T
c.*1568G>T (n.*1568G>T)
c.8509G>T (p.Glu2837Ter)
c.2362G>T (p.Glu788Ter)
n.555G>T
c.8599G>T (p.Glu2867Ter)
c.8596G>T (p.Glu2866Ter)
c.8377G>T (p.Glu2793Ter)
c.6586G>T (p.Glu2196Ter)
c.6136G>T (p.Glu2046Ter)
c.5344G>T (p.Glu1782Ter)
c.8506G>T (p.Glu2836Ter)
 ClinVar
8g.60865449A=CA1788130457CHD7n.1686A=
n.617A=
c.*1569A= (n.*1569A=)
c.8510A= (p.Glu2837=)
c.2363A= (p.Glu788=)
n.556A=
c.8600A= (p.Glu2867=)
c.8597A= (p.Glu2866=)
c.8378A= (p.Glu2793=)
c.6587A= (p.Glu2196=)
c.6137A= (p.Glu2046=)
c.5345A= (p.Glu1782=)
c.8507A= (p.Glu2836=)
8g.60865449A>CCA371310050CHD7n.1686A>C
n.617A>C
c.*1569A>C (n.*1569A>C)
c.8510A>C (p.Glu2837Ala)
c.2363A>C (p.Glu788Ala)
n.556A>C
c.8600A>C (p.Glu2867Ala)
c.8597A>C (p.Glu2866Ala)
c.8378A>C (p.Glu2793Ala)
c.6587A>C (p.Glu2196Ala)
c.6137A>C (p.Glu2046Ala)
c.5345A>C (p.Glu1782Ala)
c.8507A>C (p.Glu2836Ala)
8g.60865449A>GCA177329643CHD7n.1686A>G
n.617A>G
c.*1569A>G (n.*1569A>G)
c.8510A>G (p.Glu2837Gly)
c.2363A>G (p.Glu788Gly)
n.556A>G
c.8600A>G (p.Glu2867Gly)
c.8597A>G (p.Glu2866Gly)
c.8378A>G (p.Glu2793Gly)
c.6587A>G (p.Glu2196Gly)
c.6137A>G (p.Glu2046Gly)
c.5345A>G (p.Glu1782Gly)
c.8507A>G (p.Glu2836Gly)
 ClinVar dbSNP
8g.60865449A>TCA371310060CHD7n.1686A>T
n.617A>T
c.*1569A>T (n.*1569A>T)
c.8510A>T (p.Glu2837Val)
c.2363A>T (p.Glu788Val)
n.556A>T
c.8600A>T (p.Glu2867Val)
c.8597A>T (p.Glu2866Val)
c.8378A>T (p.Glu2793Val)
c.6587A>T (p.Glu2196Val)
c.6137A>T (p.Glu2046Val)
c.5345A>T (p.Glu1782Val)
c.8507A>T (p.Glu2836Val)
8g.60865450A>CCA371310068CHD7n.1687A>C
n.618A>C
c.*1570A>C (n.*1570A>C)
c.8511A>C (p.Glu2837Asp)
c.2364A>C (p.Glu788Asp)
n.557A>C
c.8601A>C (p.Glu2867Asp)
c.8598A>C (p.Glu2866Asp)
c.8379A>C (p.Glu2793Asp)
c.6588A>C (p.Glu2196Asp)
c.6138A>C (p.Glu2046Asp)
c.5346A>C (p.Glu1782Asp)
c.8508A>C (p.Glu2836Asp)
8g.60865450A>GCA461106156CHD7n.1687A>G
n.618A>G
c.*1570A>G (n.*1570A>G)
c.8511A>G (p.Glu2837=)
c.2364A>G (p.Glu788=)
n.557A>G
c.8601A>G (p.Glu2867=)
c.8598A>G (p.Glu2866=)
c.8379A>G (p.Glu2793=)
c.6588A>G (p.Glu2196=)
c.6138A>G (p.Glu2046=)
c.5346A>G (p.Glu1782=)
c.8508A>G (p.Glu2836=)
8g.60865450A>TCA371310072CHD7n.1687A>T
n.618A>T
c.*1570A>T (n.*1570A>T)
c.8511A>T (p.Glu2837Asp)
c.2364A>T (p.Glu788Asp)
n.557A>T
c.8601A>T (p.Glu2867Asp)
c.8598A>T (p.Glu2866Asp)
c.8379A>T (p.Glu2793Asp)
c.6588A>T (p.Glu2196Asp)
c.6138A>T (p.Glu2046Asp)
c.5346A>T (p.Glu1782Asp)
c.8508A>T (p.Glu2836Asp)
8g.60865451delCA2695203187CHD7n.1688del
n.619del
c.*1571del (n.*1571del)
c.8512del (p.Asp2838ThrfsTer?)
c.2365del (p.Asp789ThrfsTer?)
n.558del
c.8602del (p.Asp2868ThrfsTer?)
c.8599del (p.Asp2867ThrfsTer?)
c.8380del (p.Asp2794ThrfsTer?)
c.6589del (p.Asp2197ThrfsTer?)
c.6139del (p.Asp2047ThrfsTer?)
c.5347del (p.Asp1783ThrfsTer?)
c.8509del (p.Asp2837ThrfsTer?)
8g.60865451G>ACA371310083CHD7n.1688G>A
n.619G>A
c.*1571G>A (n.*1571G>A)
c.8512G>A (p.Asp2838Asn)
c.2365G>A (p.Asp789Asn)
n.558G>A
c.8602G>A (p.Asp2868Asn)
c.8599G>A (p.Asp2867Asn)
c.8380G>A (p.Asp2794Asn)
c.6589G>A (p.Asp2197Asn)
c.6139G>A (p.Asp2047Asn)
c.5347G>A (p.Asp1783Asn)
c.8509G>A (p.Asp2837Asn)
8g.60865451G>CCA371310084CHD7n.1688G>C
n.619G>C
c.*1571G>C (n.*1571G>C)
c.8512G>C (p.Asp2838His)
c.2365G>C (p.Asp789His)
n.558G>C
c.8602G>C (p.Asp2868His)
c.8599G>C (p.Asp2867His)
c.8380G>C (p.Asp2794His)
c.6589G>C (p.Asp2197His)
c.6139G>C (p.Asp2047His)
c.5347G>C (p.Asp1783His)
c.8509G>C (p.Asp2837His)
8g.60865451G>TCA371310085CHD7n.1688G>T
n.619G>T
c.*1571G>T (n.*1571G>T)
c.8512G>T (p.Asp2838Tyr)
c.2365G>T (p.Asp789Tyr)
n.558G>T
c.8602G>T (p.Asp2868Tyr)
c.8599G>T (p.Asp2867Tyr)
c.8380G>T (p.Asp2794Tyr)
c.6589G>T (p.Asp2197Tyr)
c.6139G>T (p.Asp2047Tyr)
c.5347G>T (p.Asp1783Tyr)
c.8509G>T (p.Asp2837Tyr)
8g.60865452A>CCA371310088CHD7n.1689A>C
n.620A>C
c.*1572A>C (n.*1572A>C)
c.8513A>C (p.Asp2838Ala)
c.2366A>C (p.Asp789Ala)
n.559A>C
c.8603A>C (p.Asp2868Ala)
c.8600A>C (p.Asp2867Ala)
c.8381A>C (p.Asp2794Ala)
c.6590A>C (p.Asp2197Ala)
c.6140A>C (p.Asp2047Ala)
c.5348A>C (p.Asp1783Ala)
c.8510A>C (p.Asp2837Ala)
8g.60865452A>GCA371310091CHD7n.1689A>G
n.620A>G
c.*1572A>G (n.*1572A>G)
c.8513A>G (p.Asp2838Gly)
c.2366A>G (p.Asp789Gly)
n.559A>G
c.8603A>G (p.Asp2868Gly)
c.8600A>G (p.Asp2867Gly)
c.8381A>G (p.Asp2794Gly)
c.6590A>G (p.Asp2197Gly)
c.6140A>G (p.Asp2047Gly)
c.5348A>G (p.Asp1783Gly)
c.8510A>G (p.Asp2837Gly)
 gnomAD v4
8g.60865452A>TCA371310095CHD7n.1689A>T
n.620A>T
c.*1572A>T (n.*1572A>T)
c.8513A>T (p.Asp2838Val)
c.2366A>T (p.Asp789Val)
n.559A>T
c.8603A>T (p.Asp2868Val)
c.8600A>T (p.Asp2867Val)
c.8381A>T (p.Asp2794Val)
c.6590A>T (p.Asp2197Val)
c.6140A>T (p.Asp2047Val)
c.5348A>T (p.Asp1783Val)
c.8510A>T (p.Asp2837Val)
8g.60865453C>ACA371310099CHD7n.1690C>A
n.621C>A
c.*1573C>A (n.*1573C>A)
c.8514C>A (p.Asp2838Glu)
c.2367C>A (p.Asp789Glu)
n.560C>A
c.8604C>A (p.Asp2868Glu)
c.8601C>A (p.Asp2867Glu)
c.8382C>A (p.Asp2794Glu)
c.6591C>A (p.Asp2197Glu)
c.6141C>A (p.Asp2047Glu)
c.5349C>A (p.Asp1783Glu)
c.8511C>A (p.Asp2837Glu)
8g.60865453C=CA1788130461CHD7n.1690C=
n.621C=
c.*1573C= (n.*1573C=)
c.8514C= (p.Asp2838=)
c.2367C= (p.Asp789=)
n.560C=
c.8604C= (p.Asp2868=)
c.8601C= (p.Asp2867=)
c.8382C= (p.Asp2794=)
c.6591C= (p.Asp2197=)
c.6141C= (p.Asp2047=)
c.5349C= (p.Asp1783=)
c.8511C= (p.Asp2837=)
8g.60865453C>GCA371310104CHD7n.1690C>G
n.621C>G
c.*1573C>G (n.*1573C>G)
c.8514C>G (p.Asp2838Glu)
c.2367C>G (p.Asp789Glu)
n.560C>G
c.8604C>G (p.Asp2868Glu)
c.8601C>G (p.Asp2867Glu)
c.8382C>G (p.Asp2794Glu)
c.6591C>G (p.Asp2197Glu)
c.6141C>G (p.Asp2047Glu)
c.5349C>G (p.Asp1783Glu)
c.8511C>G (p.Asp2837Glu)
8g.60865453C>TCA461106160CHD7n.1690C>T
n.621C>T
c.*1573C>T (n.*1573C>T)
c.8514C>T (p.Asp2838=)
c.2367C>T (p.Asp789=)
n.560C>T
c.8604C>T (p.Asp2868=)
c.8601C>T (p.Asp2867=)
c.8382C>T (p.Asp2794=)
c.6591C>T (p.Asp2197=)
c.6141C>T (p.Asp2047=)
c.5349C>T (p.Asp1783=)
c.8511C>T (p.Asp2837=)
 dbSNP gnomAD v3 gnomAD v4
8g.60865454A>CCA371310110CHD7n.1691A>C
n.622A>C
c.*1574A>C (n.*1574A>C)
c.8515A>C (p.Ser2839Arg)
c.2368A>C (p.Ser790Arg)
n.561A>C
c.8605A>C (p.Ser2869Arg)
c.8602A>C (p.Ser2868Arg)
c.8383A>C (p.Ser2795Arg)
c.6592A>C (p.Ser2198Arg)
c.6142A>C (p.Ser2048Arg)
c.5350A>C (p.Ser1784Arg)
c.8512A>C (p.Ser2838Arg)
8g.60865454A>GCA371310111CHD7n.1691A>G
n.622A>G
c.*1574A>G (n.*1574A>G)
c.8515A>G (p.Ser2839Gly)
c.2368A>G (p.Ser790Gly)
n.561A>G
c.8605A>G (p.Ser2869Gly)
c.8602A>G (p.Ser2868Gly)
c.8383A>G (p.Ser2795Gly)
c.6592A>G (p.Ser2198Gly)
c.6142A>G (p.Ser2048Gly)
c.5350A>G (p.Ser1784Gly)
c.8512A>G (p.Ser2838Gly)
 gnomAD v4
8g.60865454A>TCA371310107CHD7n.1691A>T
n.622A>T
c.*1574A>T (n.*1574A>T)
c.8515A>T (p.Ser2839Cys)
c.2368A>T (p.Ser790Cys)
n.561A>T
c.8605A>T (p.Ser2869Cys)
c.8602A>T (p.Ser2868Cys)
c.8383A>T (p.Ser2795Cys)
c.6592A>T (p.Ser2198Cys)
c.6142A>T (p.Ser2048Cys)
c.5350A>T (p.Ser1784Cys)
c.8512A>T (p.Ser2838Cys)
8g.60865455G>ACA177329655CHD7n.1692G>A
n.623G>A
c.*1575G>A (n.*1575G>A)
c.8516G>A (p.Ser2839Asn)
c.2369G>A (p.Ser790Asn)
n.562G>A
c.8606G>A (p.Ser2869Asn)
c.8603G>A (p.Ser2868Asn)
c.8384G>A (p.Ser2795Asn)
c.6593G>A (p.Ser2198Asn)
c.6143G>A (p.Ser2048Asn)
c.5351G>A (p.Ser1784Asn)
c.8513G>A (p.Ser2838Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.60865455G>CCA371310118CHD7n.1692G>C
n.623G>C
c.*1575G>C (n.*1575G>C)
c.8516G>C (p.Ser2839Thr)
c.2369G>C (p.Ser790Thr)
n.562G>C
c.8606G>C (p.Ser2869Thr)
c.8603G>C (p.Ser2868Thr)
c.8384G>C (p.Ser2795Thr)
c.6593G>C (p.Ser2198Thr)
c.6143G>C (p.Ser2048Thr)
c.5351G>C (p.Ser1784Thr)
c.8513G>C (p.Ser2838Thr)
8g.60865455G=CA1788130467CHD7n.1692G=
n.623G=
c.*1575G= (n.*1575G=)
c.8516G= (p.Ser2839=)
c.2369G= (p.Ser790=)
n.562G=
c.8606G= (p.Ser2869=)
c.8603G= (p.Ser2868=)
c.8384G= (p.Ser2795=)
c.6593G= (p.Ser2198=)
c.6143G= (p.Ser2048=)
c.5351G= (p.Ser1784=)
c.8513G= (p.Ser2838=)
8g.60865455G>TCA371310124CHD7n.1692G>T
n.623G>T
c.*1575G>T (n.*1575G>T)
c.8516G>T (p.Ser2839Ile)
c.2369G>T (p.Ser790Ile)
n.562G>T
c.8606G>T (p.Ser2869Ile)
c.8603G>T (p.Ser2868Ile)
c.8384G>T (p.Ser2795Ile)
c.6593G>T (p.Ser2198Ile)
c.6143G>T (p.Ser2048Ile)
c.5351G>T (p.Ser1784Ile)
c.8513G>T (p.Ser2838Ile)
8g.60865456C>ACA371310127CHD7n.1693C>A
n.624C>A
c.*1576C>A (n.*1576C>A)
c.8517C>A (p.Ser2839Arg)
c.2370C>A (p.Ser790Arg)
n.563C>A
c.8607C>A (p.Ser2869Arg)
c.8604C>A (p.Ser2868Arg)
c.8385C>A (p.Ser2795Arg)
c.6594C>A (p.Ser2198Arg)
c.6144C>A (p.Ser2048Arg)
c.5352C>A (p.Ser1784Arg)
c.8514C>A (p.Ser2838Arg)
8g.60865456C>GCA371310131CHD7n.1693C>G
n.624C>G
c.*1576C>G (n.*1576C>G)
c.8517C>G (p.Ser2839Arg)
c.2370C>G (p.Ser790Arg)
n.563C>G
c.8607C>G (p.Ser2869Arg)
c.8604C>G (p.Ser2868Arg)
c.8385C>G (p.Ser2795Arg)
c.6594C>G (p.Ser2198Arg)
c.6144C>G (p.Ser2048Arg)
c.5352C>G (p.Ser1784Arg)
c.8514C>G (p.Ser2838Arg)
8g.60865456C>TCA461106165CHD7n.1693C>T
n.624C>T
c.*1576C>T (n.*1576C>T)
c.8517C>T (p.Ser2839=)
c.2370C>T (p.Ser790=)
n.563C>T
c.8607C>T (p.Ser2869=)
c.8604C>T (p.Ser2868=)
c.8385C>T (p.Ser2795=)
c.6594C>T (p.Ser2198=)
c.6144C>T (p.Ser2048=)
c.5352C>T (p.Ser1784=)
c.8514C>T (p.Ser2838=)
8g.60865456_60865457delinsCACA1788130484CHD7n.1693_1694delinsCA
n.624_625delinsCA
c.*1576_*1577delinsCA (n.*1576_*1577delinsCA)
c.8517_8518delinsCA (p.Ser2839=)
c.2370_2371delinsCA (p.Ser790=)
n.563_564delinsCA
c.8607_8608delinsCA (p.Ser2869=)
c.8604_8605delinsCA (p.Ser2868=)
c.8385_8386delinsCA (p.Ser2795=)
c.6594_6595delinsCA (p.Ser2198=)
c.6144_6145delinsCA (p.Ser2048=)
c.5352_5353delinsCA (p.Ser1784=)
c.8514_8515delinsCA (p.Ser2838=)
8g.60865457delCA16618686CHD7n.1694del
n.625del
c.*1577del (n.*1577del)
c.8518del (p.Thr2840LeufsTer?)
c.2371del (p.Thr791LeufsTer?)
n.564del
c.8608del (p.Thr2870LeufsTer?)
c.8605del (p.Thr2869LeufsTer?)
c.8386del (p.Thr2796LeufsTer?)
c.6595del (p.Thr2199LeufsTer?)
c.6145del (p.Thr2049LeufsTer?)
c.5353del (p.Thr1785LeufsTer?)
c.8515del (p.Thr2839LeufsTer?)
 ClinVar dbSNP
8g.60865457A=CA1788130502CHD7n.1694A=
n.625A=
c.*1577A= (n.*1577A=)
c.8518A= (p.Thr2840=)
c.2371A= (p.Thr791=)
n.564A=
c.8608A= (p.Thr2870=)
c.8605A= (p.Thr2869=)
c.8386A= (p.Thr2796=)
c.6595A= (p.Thr2199=)
c.6145A= (p.Thr2049=)
c.5353A= (p.Thr1785=)
c.8515A= (p.Thr2839=)
8g.60865457A>CCA371310140CHD7n.1694A>C
n.625A>C
c.*1577A>C (n.*1577A>C)
c.8518A>C (p.Thr2840Pro)
c.2371A>C (p.Thr791Pro)
n.564A>C
c.8608A>C (p.Thr2870Pro)
c.8605A>C (p.Thr2869Pro)
c.8386A>C (p.Thr2796Pro)
c.6595A>C (p.Thr2199Pro)
c.6145A>C (p.Thr2049Pro)
c.5353A>C (p.Thr1785Pro)
c.8515A>C (p.Thr2839Pro)
 dbSNP gnomAD v2 gnomAD v4
8g.60865457A>GCA371310136CHD7n.1694A>G
n.625A>G
c.*1577A>G (n.*1577A>G)
c.8518A>G (p.Thr2840Ala)
c.2371A>G (p.Thr791Ala)
n.564A>G
c.8608A>G (p.Thr2870Ala)
c.8605A>G (p.Thr2869Ala)
c.8386A>G (p.Thr2796Ala)
c.6595A>G (p.Thr2199Ala)
c.6145A>G (p.Thr2049Ala)
c.5353A>G (p.Thr1785Ala)
c.8515A>G (p.Thr2839Ala)
8g.60865457A>TCA371310134CHD7n.1694A>T
n.625A>T
c.*1577A>T (n.*1577A>T)
c.8518A>T (p.Thr2840Ser)
c.2371A>T (p.Thr791Ser)
n.564A>T
c.8608A>T (p.Thr2870Ser)
c.8605A>T (p.Thr2869Ser)
c.8386A>T (p.Thr2796Ser)
c.6595A>T (p.Thr2199Ser)
c.6145A>T (p.Thr2049Ser)
c.5353A>T (p.Thr1785Ser)
c.8515A>T (p.Thr2839Ser)
8g.60865458C>ACA371310143CHD7n.1695C>A
n.626C>A
c.*1578C>A (n.*1578C>A)
c.8519C>A (p.Thr2840Asn)
c.2372C>A (p.Thr791Asn)
n.565C>A
c.8609C>A (p.Thr2870Asn)
c.8606C>A (p.Thr2869Asn)
c.8387C>A (p.Thr2796Asn)
c.6596C>A (p.Thr2199Asn)
c.6146C>A (p.Thr2049Asn)
c.5354C>A (p.Thr1785Asn)
c.8516C>A (p.Thr2839Asn)
 COSMIC
8g.60865458C>GCA371310145CHD7n.1695C>G
n.626C>G
c.*1578C>G (n.*1578C>G)
c.8519C>G (p.Thr2840Ser)
c.2372C>G (p.Thr791Ser)
n.565C>G
c.8609C>G (p.Thr2870Ser)
c.8606C>G (p.Thr2869Ser)
c.8387C>G (p.Thr2796Ser)
c.6596C>G (p.Thr2199Ser)
c.6146C>G (p.Thr2049Ser)
c.5354C>G (p.Thr1785Ser)
c.8516C>G (p.Thr2839Ser)
8g.60865458C>TCA371310150CHD7n.1695C>T
n.626C>T
c.*1578C>T (n.*1578C>T)
c.8519C>T (p.Thr2840Ile)
c.2372C>T (p.Thr791Ile)
n.565C>T
c.8609C>T (p.Thr2870Ile)
c.8606C>T (p.Thr2869Ile)
c.8387C>T (p.Thr2796Ile)
c.6596C>T (p.Thr2199Ile)
c.6146C>T (p.Thr2049Ile)
c.5354C>T (p.Thr1785Ile)
c.8516C>T (p.Thr2839Ile)
8g.60865459T>ACA461106173CHD7n.1696T>A
n.627T>A
c.*1579T>A (n.*1579T>A)
c.8520T>A (p.Thr2840=)
c.2373T>A (p.Thr791=)
n.566T>A
c.8610T>A (p.Thr2870=)
c.8607T>A (p.Thr2869=)
c.8388T>A (p.Thr2796=)
c.6597T>A (p.Thr2199=)
c.6147T>A (p.Thr2049=)
c.5355T>A (p.Thr1785=)
c.8517T>A (p.Thr2839=)
8g.60865459T>CCA461106175CHD7n.1696T>C
n.627T>C
c.*1579T>C (n.*1579T>C)
c.8520T>C (p.Thr2840=)
c.2373T>C (p.Thr791=)
n.566T>C
c.8610T>C (p.Thr2870=)
c.8607T>C (p.Thr2869=)
c.8388T>C (p.Thr2796=)
c.6597T>C (p.Thr2199=)
c.6147T>C (p.Thr2049=)
c.5355T>C (p.Thr1785=)
c.8517T>C (p.Thr2839=)
8g.60865459T>GCA461106171CHD7n.1696T>G
n.627T>G
c.*1579T>G (n.*1579T>G)
c.8520T>G (p.Thr2840=)
c.2373T>G (p.Thr791=)
n.566T>G
c.8610T>G (p.Thr2870=)
c.8607T>G (p.Thr2869=)
c.8388T>G (p.Thr2796=)
c.6597T>G (p.Thr2199=)
c.6147T>G (p.Thr2049=)
c.5355T>G (p.Thr1785=)
c.8517T>G (p.Thr2839=)
8g.60865460T>ACA371310155CHD7n.1697T>A
n.628T>A
c.*1580T>A (n.*1580T>A)
c.8521T>A (p.Ser2841Thr)
c.2374T>A (p.Ser792Thr)
c.8611T>A (p.Ser2871Thr)
c.8608T>A (p.Ser2870Thr)
c.8389T>A (p.Ser2797Thr)
c.6598T>A (p.Ser2200Thr)
c.6148T>A (p.Ser2050Thr)
c.5356T>A (p.Ser1786Thr)
c.8518T>A (p.Ser2840Thr)
8g.60865460T>CCA371310160CHD7n.1697T>C
n.628T>C
c.*1580T>C (n.*1580T>C)
c.8521T>C (p.Ser2841Pro)
c.2374T>C (p.Ser792Pro)
c.8611T>C (p.Ser2871Pro)
c.8608T>C (p.Ser2870Pro)
c.8389T>C (p.Ser2797Pro)
c.6598T>C (p.Ser2200Pro)
c.6148T>C (p.Ser2050Pro)
c.5356T>C (p.Ser1786Pro)
c.8518T>C (p.Ser2840Pro)
8g.60865460T>GCA371310164CHD7n.1697T>G
n.628T>G
c.*1580T>G (n.*1580T>G)
c.8521T>G (p.Ser2841Ala)
c.2374T>G (p.Ser792Ala)
c.8611T>G (p.Ser2871Ala)
c.8608T>G (p.Ser2870Ala)
c.8389T>G (p.Ser2797Ala)
c.6598T>G (p.Ser2200Ala)
c.6148T>G (p.Ser2050Ala)
c.5356T>G (p.Ser1786Ala)
c.8518T>G (p.Ser2840Ala)
8g.60865461C>ACA4761028CHD7n.1698C>A
n.629C>A
c.*1581C>A (n.*1581C>A)
c.8522C>A (p.Ser2841Ter)
c.2375C>A (p.Ser792Ter)
c.8612C>A (p.Ser2871Ter)
c.8609C>A (p.Ser2870Ter)
c.8390C>A (p.Ser2797Ter)
c.6599C>A (p.Ser2200Ter)
c.6149C>A (p.Ser2050Ter)
c.5357C>A (p.Ser1786Ter)
c.8519C>A (p.Ser2840Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60865461C=CA1788130508CHD7n.1698C=
n.629C=
c.*1581C= (n.*1581C=)
c.8522C= (p.Ser2841=)
c.2375C= (p.Ser792=)
c.8612C= (p.Ser2871=)
c.8609C= (p.Ser2870=)
c.8390C= (p.Ser2797=)
c.6599C= (p.Ser2200=)
c.6149C= (p.Ser2050=)
c.5357C= (p.Ser1786=)
c.8519C= (p.Ser2840=)
8g.60865461C>GCA371310171CHD7n.1698C>G
n.629C>G
c.*1581C>G (n.*1581C>G)
c.8522C>G (p.Ser2841Ter)
c.2375C>G (p.Ser792Ter)
c.8612C>G (p.Ser2871Ter)
c.8609C>G (p.Ser2870Ter)
c.8390C>G (p.Ser2797Ter)
c.6599C>G (p.Ser2200Ter)
c.6149C>G (p.Ser2050Ter)
c.5357C>G (p.Ser1786Ter)
c.8519C>G (p.Ser2840Ter)
8g.60865461C>TCA371310170CHD7n.1698C>T
n.629C>T
c.*1581C>T (n.*1581C>T)
c.8522C>T (p.Ser2841Leu)
c.2375C>T (p.Ser792Leu)
c.8612C>T (p.Ser2871Leu)
c.8609C>T (p.Ser2870Leu)
c.8390C>T (p.Ser2797Leu)
c.6599C>T (p.Ser2200Leu)
c.6149C>T (p.Ser2050Leu)
c.5357C>T (p.Ser1786Leu)
c.8519C>T (p.Ser2840Leu)
8g.60865462A>CCA461106183CHD7n.1699A>C
n.630A>C
c.*1582A>C (n.*1582A>C)
c.8523A>C (p.Ser2841=)
c.2376A>C (p.Ser792=)
c.8613A>C (p.Ser2871=)
c.8610A>C (p.Ser2870=)
c.8391A>C (p.Ser2797=)
c.6600A>C (p.Ser2200=)
c.6150A>C (p.Ser2050=)
c.5358A>C (p.Ser1786=)
c.8520A>C (p.Ser2840=)
8g.60865462A>GCA461106182CHD7n.1699A>G
n.630A>G
c.*1582A>G (n.*1582A>G)
c.8523A>G (p.Ser2841=)
c.2376A>G (p.Ser792=)
c.8613A>G (p.Ser2871=)
c.8610A>G (p.Ser2870=)
c.8391A>G (p.Ser2797=)
c.6600A>G (p.Ser2200=)
c.6150A>G (p.Ser2050=)
c.5358A>G (p.Ser1786=)
c.8520A>G (p.Ser2840=)
8g.60865462A>TCA461106181CHD7n.1699A>T
n.630A>T
c.*1582A>T (n.*1582A>T)
c.8523A>T (p.Ser2841=)
c.2376A>T (p.Ser792=)
c.8613A>T (p.Ser2871=)
c.8610A>T (p.Ser2870=)
c.8391A>T (p.Ser2797=)
c.6600A>T (p.Ser2200=)
c.6150A>T (p.Ser2050=)
c.5358A>T (p.Ser1786=)
c.8520A>T (p.Ser2840=)
8g.60865463A>CCA371310173CHD7n.1700A>C
n.631A>C
c.*1583A>C (n.*1583A>C)
c.8524A>C (p.Lys2842Gln)
c.2377A>C (p.Lys793Gln)
c.8614A>C (p.Lys2872Gln)
c.8611A>C (p.Lys2871Gln)
c.8392A>C (p.Lys2798Gln)
c.6601A>C (p.Lys2201Gln)
c.6151A>C (p.Lys2051Gln)
c.5359A>C (p.Lys1787Gln)
c.8521A>C (p.Lys2841Gln)
8g.60865463A>GCA371310175CHD7n.1700A>G
n.631A>G
c.*1583A>G (n.*1583A>G)
c.8524A>G (p.Lys2842Glu)
c.2377A>G (p.Lys793Glu)
c.8614A>G (p.Lys2872Glu)
c.8611A>G (p.Lys2871Glu)
c.8392A>G (p.Lys2798Glu)
c.6601A>G (p.Lys2201Glu)
c.6151A>G (p.Lys2051Glu)
c.5359A>G (p.Lys1787Glu)
c.8521A>G (p.Lys2841Glu)
 gnomAD v4
8g.60865463A>TCA371310186CHD7n.1700A>T
n.631A>T
c.*1583A>T (n.*1583A>T)
c.8524A>T (p.Lys2842Ter)
c.2377A>T (p.Lys793Ter)
c.8614A>T (p.Lys2872Ter)
c.8611A>T (p.Lys2871Ter)
c.8392A>T (p.Lys2798Ter)
c.6601A>T (p.Lys2201Ter)
c.6151A>T (p.Lys2051Ter)
c.5359A>T (p.Lys1787Ter)
c.8521A>T (p.Lys2841Ter)
8g.60865464A>CCA371310190CHD7n.1701A>C
n.632A>C
c.*1584A>C (n.*1584A>C)
c.8525A>C (p.Lys2842Thr)
c.2378A>C (p.Lys793Thr)
c.8615A>C (p.Lys2872Thr)
c.8612A>C (p.Lys2871Thr)
c.8393A>C (p.Lys2798Thr)
c.6602A>C (p.Lys2201Thr)
c.6152A>C (p.Lys2051Thr)
c.5360A>C (p.Lys1787Thr)
c.8522A>C (p.Lys2841Thr)
8g.60865464A>GCA371310191CHD7n.1701A>G
n.632A>G
c.*1584A>G (n.*1584A>G)
c.8525A>G (p.Lys2842Arg)
c.2378A>G (p.Lys793Arg)
c.8615A>G (p.Lys2872Arg)
c.8612A>G (p.Lys2871Arg)
c.8393A>G (p.Lys2798Arg)
c.6602A>G (p.Lys2201Arg)
c.6152A>G (p.Lys2051Arg)
c.5360A>G (p.Lys1787Arg)
c.8522A>G (p.Lys2841Arg)
8g.60865464A>TCA371310192CHD7n.1701A>T
n.632A>T
c.*1584A>T (n.*1584A>T)
c.8525A>T (p.Lys2842Ile)
c.2378A>T (p.Lys793Ile)
c.8615A>T (p.Lys2872Ile)
c.8612A>T (p.Lys2871Ile)
c.8393A>T (p.Lys2798Ile)
c.6602A>T (p.Lys2201Ile)
c.6152A>T (p.Lys2051Ile)
c.5360A>T (p.Lys1787Ile)
c.8522A>T (p.Lys2841Ile)
8g.60865465A>CCA371310195CHD7n.1702A>C
n.633A>C
c.*1585A>C (n.*1585A>C)
c.8526A>C (p.Lys2842Asn)
c.2379A>C (p.Lys793Asn)
c.8616A>C (p.Lys2872Asn)
c.8613A>C (p.Lys2871Asn)
c.8394A>C (p.Lys2798Asn)
c.6603A>C (p.Lys2201Asn)
c.6153A>C (p.Lys2051Asn)
c.5361A>C (p.Lys1787Asn)
c.8523A>C (p.Lys2841Asn)
8g.60865465A>GCA461106190CHD7n.1702A>G
n.633A>G
c.*1585A>G (n.*1585A>G)
c.8526A>G (p.Lys2842=)
c.2379A>G (p.Lys793=)
c.8616A>G (p.Lys2872=)
c.8613A>G (p.Lys2871=)
c.8394A>G (p.Lys2798=)
c.6603A>G (p.Lys2201=)
c.6153A>G (p.Lys2051=)
c.5361A>G (p.Lys1787=)
c.8523A>G (p.Lys2841=)
8g.60865465A>TCA371310200CHD7n.1702A>T
n.633A>T
c.*1585A>T (n.*1585A>T)
c.8526A>T (p.Lys2842Asn)
c.2379A>T (p.Lys793Asn)
c.8616A>T (p.Lys2872Asn)
c.8613A>T (p.Lys2871Asn)
c.8394A>T (p.Lys2798Asn)
c.6603A>T (p.Lys2201Asn)
c.6153A>T (p.Lys2051Asn)
c.5361A>T (p.Lys1787Asn)
c.8523A>T (p.Lys2841Asn)
8g.60865466G>ACA371310207CHD7n.1703G>A
n.634G>A
c.*1586G>A (n.*1586G>A)
c.8527G>A (p.Gly2843Arg)
c.2380G>A (p.Gly794Arg)
c.8617G>A (p.Gly2873Arg)
c.8614G>A (p.Gly2872Arg)
c.8395G>A (p.Gly2799Arg)
c.6604G>A (p.Gly2202Arg)
c.6154G>A (p.Gly2052Arg)
c.5362G>A (p.Gly1788Arg)
c.8524G>A (p.Gly2842Arg)
8g.60865466G>CCA371310211CHD7n.1703G>C
n.634G>C
c.*1586G>C (n.*1586G>C)
c.8527G>C (p.Gly2843Arg)
c.2380G>C (p.Gly794Arg)
c.8617G>C (p.Gly2873Arg)
c.8614G>C (p.Gly2872Arg)
c.8395G>C (p.Gly2799Arg)
c.6604G>C (p.Gly2202Arg)
c.6154G>C (p.Gly2052Arg)
c.5362G>C (p.Gly1788Arg)
c.8524G>C (p.Gly2842Arg)
8g.60865466G>TCA371310213CHD7n.1703G>T
n.634G>T
c.*1586G>T (n.*1586G>T)
c.8527G>T (p.Gly2843Ter)
c.2380G>T (p.Gly794Ter)
c.8617G>T (p.Gly2873Ter)
c.8614G>T (p.Gly2872Ter)
c.8395G>T (p.Gly2799Ter)
c.6604G>T (p.Gly2202Ter)
c.6154G>T (p.Gly2052Ter)
c.5362G>T (p.Gly1788Ter)
c.8524G>T (p.Gly2842Ter)
8g.60865467delCA2780535769CHD7n.1704del
n.635del
c.*1587del (n.*1587del)
c.8528del (p.Gly2843GlufsTer?)
c.2381del (p.Gly794GlufsTer?)
c.8618del (p.Gly2873GlufsTer?)
c.8615del (p.Gly2872GlufsTer?)
c.8396del (p.Gly2799GlufsTer?)
c.6605del (p.Gly2202GlufsTer?)
c.6155del (p.Gly2052GlufsTer?)
c.5363del (p.Gly1788GlufsTer?)
c.8525del (p.Gly2842GlufsTer?)
8g.60865467G>ACA371310222CHD7n.1704G>A
n.635G>A
c.*1587G>A (n.*1587G>A)
c.8528G>A (p.Gly2843Glu)
c.2381G>A (p.Gly794Glu)
c.8618G>A (p.Gly2873Glu)
c.8615G>A (p.Gly2872Glu)
c.8396G>A (p.Gly2799Glu)
c.6605G>A (p.Gly2202Glu)
c.6155G>A (p.Gly2052Glu)
c.5363G>A (p.Gly1788Glu)
c.8525G>A (p.Gly2842Glu)
8g.60865467G>CCA371310220CHD7n.1704G>C
n.635G>C
c.*1587G>C (n.*1587G>C)
c.8528G>C (p.Gly2843Ala)
c.2381G>C (p.Gly794Ala)
c.8618G>C (p.Gly2873Ala)
c.8615G>C (p.Gly2872Ala)
c.8396G>C (p.Gly2799Ala)
c.6605G>C (p.Gly2202Ala)
c.6155G>C (p.Gly2052Ala)
c.5363G>C (p.Gly1788Ala)
c.8525G>C (p.Gly2842Ala)
8g.60865467G>TCA371310215CHD7n.1704G>T
n.635G>T
c.*1587G>T (n.*1587G>T)
c.8528G>T (p.Gly2843Val)
c.2381G>T (p.Gly794Val)
c.8618G>T (p.Gly2873Val)
c.8615G>T (p.Gly2872Val)
c.8396G>T (p.Gly2799Val)
c.6605G>T (p.Gly2202Val)
c.6155G>T (p.Gly2052Val)
c.5363G>T (p.Gly1788Val)
c.8525G>T (p.Gly2842Val)
8g.60865468A>CCA461105988CHD7n.1705A>C
n.636A>C
c.*1588A>C (n.*1588A>C)
c.8529A>C (p.Gly2843=)
c.2382A>C (p.Gly794=)
c.8619A>C (p.Gly2873=)
c.8616A>C (p.Gly2872=)
c.8397A>C (p.Gly2799=)
c.6606A>C (p.Gly2202=)
c.6156A>C (p.Gly2052=)
c.5364A>C (p.Gly1788=)
c.8526A>C (p.Gly2842=)
8g.60865468A>GCA461105989CHD7n.1705A>G
n.636A>G
c.*1588A>G (n.*1588A>G)
c.8529A>G (p.Gly2843=)
c.2382A>G (p.Gly794=)
c.8619A>G (p.Gly2873=)
c.8616A>G (p.Gly2872=)
c.8397A>G (p.Gly2799=)
c.6606A>G (p.Gly2202=)
c.6156A>G (p.Gly2052=)
c.5364A>G (p.Gly1788=)
c.8526A>G (p.Gly2842=)
8g.60865468A>TCA461105990CHD7n.1705A>T
n.636A>T
c.*1588A>T (n.*1588A>T)
c.8529A>T (p.Gly2843=)
c.2382A>T (p.Gly794=)
c.8619A>T (p.Gly2873=)
c.8616A>T (p.Gly2872=)
c.8397A>T (p.Gly2799=)
c.6606A>T (p.Gly2202=)
c.6156A>T (p.Gly2052=)
c.5364A>T (p.Gly1788=)
c.8526A>T (p.Gly2842=)
8g.60865469G>ACA371310227CHD7n.1706G>A
n.637G>A
c.*1589G>A (n.*1589G>A)
c.8530G>A (p.Glu2844Lys)
c.2383G>A (p.Glu795Lys)
c.8620G>A (p.Glu2874Lys)
c.8617G>A (p.Glu2873Lys)
c.8398G>A (p.Glu2800Lys)
c.6607G>A (p.Glu2203Lys)
c.6157G>A (p.Glu2053Lys)
c.5365G>A (p.Glu1789Lys)
c.8527G>A (p.Glu2843Lys)
8g.60865469G>CCA371310242CHD7n.1706G>C
n.637G>C
c.*1589G>C (n.*1589G>C)
c.8530G>C (p.Glu2844Gln)
c.2383G>C (p.Glu795Gln)
c.8620G>C (p.Glu2874Gln)
c.8617G>C (p.Glu2873Gln)
c.8398G>C (p.Glu2800Gln)
c.6607G>C (p.Glu2203Gln)
c.6157G>C (p.Glu2053Gln)
c.5365G>C (p.Glu1789Gln)
c.8527G>C (p.Glu2843Gln)
8g.60865469G>TCA371310234CHD7n.1706G>T
n.637G>T
c.*1589G>T (n.*1589G>T)
c.8530G>T (p.Glu2844Ter)
c.2383G>T (p.Glu795Ter)
c.8620G>T (p.Glu2874Ter)
c.8617G>T (p.Glu2873Ter)
c.8398G>T (p.Glu2800Ter)
c.6607G>T (p.Glu2203Ter)
c.6157G>T (p.Glu2053Ter)
c.5365G>T (p.Glu1789Ter)
c.8527G>T (p.Glu2843Ter)
8g.60865470A>CCA371310253CHD7n.1707A>C
n.638A>C
c.*1590A>C (n.*1590A>C)
c.8531A>C (p.Glu2844Ala)
c.2384A>C (p.Glu795Ala)
c.8621A>C (p.Glu2874Ala)
c.8618A>C (p.Glu2873Ala)
c.8399A>C (p.Glu2800Ala)
c.6608A>C (p.Glu2203Ala)
c.6158A>C (p.Glu2053Ala)
c.5366A>C (p.Glu1789Ala)
c.8528A>C (p.Glu2843Ala)
8g.60865470A>GCA371310264CHD7n.1707A>G
n.638A>G
c.*1590A>G (n.*1590A>G)
c.8531A>G (p.Glu2844Gly)
c.2384A>G (p.Glu795Gly)
c.8621A>G (p.Glu2874Gly)
c.8618A>G (p.Glu2873Gly)
c.8399A>G (p.Glu2800Gly)
c.6608A>G (p.Glu2203Gly)
c.6158A>G (p.Glu2053Gly)
c.5366A>G (p.Glu1789Gly)
c.8528A>G (p.Glu2843Gly)
8g.60865470A>TCA371310255CHD7n.1707A>T
n.638A>T
c.*1590A>T (n.*1590A>T)
c.8531A>T (p.Glu2844Val)
c.2384A>T (p.Glu795Val)
c.8621A>T (p.Glu2874Val)
c.8618A>T (p.Glu2873Val)
c.8399A>T (p.Glu2800Val)
c.6608A>T (p.Glu2203Val)
c.6158A>T (p.Glu2053Val)
c.5366A>T (p.Glu1789Val)
c.8528A>T (p.Glu2843Val)
8g.60865471G>ACA461105995CHD7n.1708G>A
n.639G>A
c.*1591G>A (n.*1591G>A)
c.8532G>A (p.Glu2844=)
c.2385G>A (p.Glu795=)
c.8622G>A (p.Glu2874=)
c.8619G>A (p.Glu2873=)
c.8400G>A (p.Glu2800=)
c.6609G>A (p.Glu2203=)
c.6159G>A (p.Glu2053=)
c.5367G>A (p.Glu1789=)
c.8529G>A (p.Glu2843=)
 dbSNP
8g.60865471G>CCA371310267CHD7n.1708G>C
n.639G>C
c.*1591G>C (n.*1591G>C)
c.8532G>C (p.Glu2844Asp)
c.2385G>C (p.Glu795Asp)
c.8622G>C (p.Glu2874Asp)
c.8619G>C (p.Glu2873Asp)
c.8400G>C (p.Glu2800Asp)
c.6609G>C (p.Glu2203Asp)
c.6159G>C (p.Glu2053Asp)
c.5367G>C (p.Glu1789Asp)
c.8529G>C (p.Glu2843Asp)
8g.60865471G=CA1788130511CHD7n.1708G=
n.639G=
c.*1591G= (n.*1591G=)
c.8532G= (p.Glu2844=)
c.2385G= (p.Glu795=)
c.8622G= (p.Glu2874=)
c.8619G= (p.Glu2873=)
c.8400G= (p.Glu2800=)
c.6609G= (p.Glu2203=)
c.6159G= (p.Glu2053=)
c.5367G= (p.Glu1789=)
c.8529G= (p.Glu2843=)
8g.60865471G>TCA371310268CHD7n.1708G>T
n.639G>T
c.*1591G>T (n.*1591G>T)
c.8532G>T (p.Glu2844Asp)
c.2385G>T (p.Glu795Asp)
c.8622G>T (p.Glu2874Asp)
c.8619G>T (p.Glu2873Asp)
c.8400G>T (p.Glu2800Asp)
c.6609G>T (p.Glu2203Asp)
c.6159G>T (p.Glu2053Asp)
c.5367G>T (p.Glu1789Asp)
c.8529G>T (p.Glu2843Asp)
 COSMIC
8g.60865472G>ACA371310270CHD7n.1709G>A
n.640G>A
c.*1592G>A (n.*1592G>A)
c.8533G>A (p.Glu2845Lys)
c.2386G>A (p.Glu796Lys)
c.8623G>A (p.Glu2875Lys)
c.8620G>A (p.Glu2874Lys)
c.8401G>A (p.Glu2801Lys)
c.6610G>A (p.Glu2204Lys)
c.6160G>A (p.Glu2054Lys)
c.5368G>A (p.Glu1790Lys)
c.8530G>A (p.Glu2844Lys)
8g.60865472G>CCA371310275CHD7n.1709G>C
n.640G>C
c.*1592G>C (n.*1592G>C)
c.8533G>C (p.Glu2845Gln)
c.2386G>C (p.Glu796Gln)
c.8623G>C (p.Glu2875Gln)
c.8620G>C (p.Glu2874Gln)
c.8401G>C (p.Glu2801Gln)
c.6610G>C (p.Glu2204Gln)
c.6160G>C (p.Glu2054Gln)
c.5368G>C (p.Glu1790Gln)
c.8530G>C (p.Glu2844Gln)
 dbSNP gnomAD v3 gnomAD v4
8g.60865472G=CA1788130514CHD7n.1709G=
n.640G=
c.*1592G= (n.*1592G=)
c.8533G= (p.Glu2845=)
c.2386G= (p.Glu796=)
c.8623G= (p.Glu2875=)
c.8620G= (p.Glu2874=)
c.8401G= (p.Glu2801=)
c.6610G= (p.Glu2204=)
c.6160G= (p.Glu2054=)
c.5368G= (p.Glu1790=)
c.8530G= (p.Glu2844=)
8g.60865472G>TCA371310281CHD7n.1709G>T
n.640G>T
c.*1592G>T (n.*1592G>T)
c.8533G>T (p.Glu2845Ter)
c.2386G>T (p.Glu796Ter)
c.8623G>T (p.Glu2875Ter)
c.8620G>T (p.Glu2874Ter)
c.8401G>T (p.Glu2801Ter)
c.6610G>T (p.Glu2204Ter)
c.6160G>T (p.Glu2054Ter)
c.5368G>T (p.Glu1790Ter)
c.8530G>T (p.Glu2844Ter)
8g.60865477_60865488dupCA2499219380CHD7n.1714_1725dup
n.645_656dup
c.*1597_*1608dup (n.*1597_*1608dup)
c.8538_8549dup (p.Glu2849_Asn2850insLysGlyAsnGlu)
c.2391_2402dup (p.Glu800_Asn801insLysGlyAsnGlu)
c.8628_8639dup (p.Glu2879_Asn2880insLysGlyAsnGlu)
c.8625_8636dup (p.Glu2878_Asn2879insLysGlyAsnGlu)
c.8406_8417dup (p.Glu2805_Asn2806insLysGlyAsnGlu)
c.6615_6626dup (p.Glu2208_Asn2209insLysGlyAsnGlu)
c.6165_6176dup (p.Glu2058_Asn2059insLysGlyAsnGlu)
c.5373_5384dup (p.Glu1794_Asn1795insLysGlyAsnGlu)
c.8535_8546dup (p.Glu2848_Asn2849insLysGlyAsnGlu)
 ClinVar dbSNP gnomAD v4
8g.60865473A>CCA371310287CHD7n.1710A>C
n.641A>C
c.*1593A>C (n.*1593A>C)
c.8534A>C (p.Glu2845Ala)
c.2387A>C (p.Glu796Ala)
c.8624A>C (p.Glu2875Ala)
c.8621A>C (p.Glu2874Ala)
c.8402A>C (p.Glu2801Ala)
c.6611A>C (p.Glu2204Ala)
c.6161A>C (p.Glu2054Ala)
c.5369A>C (p.Glu1790Ala)
c.8531A>C (p.Glu2844Ala)
8g.60865473A>GCA371310303CHD7n.1710A>G
n.641A>G
c.*1593A>G (n.*1593A>G)
c.8534A>G (p.Glu2845Gly)
c.2387A>G (p.Glu796Gly)
c.8624A>G (p.Glu2875Gly)
c.8621A>G (p.Glu2874Gly)
c.8402A>G (p.Glu2801Gly)
c.6611A>G (p.Glu2204Gly)
c.6161A>G (p.Glu2054Gly)
c.5369A>G (p.Glu1790Gly)
c.8531A>G (p.Glu2844Gly)
8g.60865473A>TCA371310305CHD7n.1710A>T
n.641A>T
c.*1593A>T (n.*1593A>T)
c.8534A>T (p.Glu2845Val)
c.2387A>T (p.Glu796Val)
c.8624A>T (p.Glu2875Val)
c.8621A>T (p.Glu2874Val)
c.8402A>T (p.Glu2801Val)
c.6611A>T (p.Glu2204Val)
c.6161A>T (p.Glu2054Val)
c.5369A>T (p.Glu1790Val)
c.8531A>T (p.Glu2844Val)
8g.60865474G>ACA461105998CHD7n.1711G>A
n.642G>A
c.*1594G>A (n.*1594G>A)
c.8535G>A (p.Glu2845=)
c.2388G>A (p.Glu796=)
c.8625G>A (p.Glu2875=)
c.8622G>A (p.Glu2874=)
c.8403G>A (p.Glu2801=)
c.6612G>A (p.Glu2204=)
c.6162G>A (p.Glu2054=)
c.5370G>A (p.Glu1790=)
c.8532G>A (p.Glu2844=)
8g.60865474G>CCA371310306CHD7n.1711G>C
n.642G>C
c.*1594G>C (n.*1594G>C)
c.8535G>C (p.Glu2845Asp)
c.2388G>C (p.Glu796Asp)
c.8625G>C (p.Glu2875Asp)
c.8622G>C (p.Glu2874Asp)
c.8403G>C (p.Glu2801Asp)
c.6612G>C (p.Glu2204Asp)
c.6162G>C (p.Glu2054Asp)
c.5370G>C (p.Glu1790Asp)
c.8532G>C (p.Glu2844Asp)
8g.60865474G>TCA371310307CHD7n.1711G>T
n.642G>T
c.*1594G>T (n.*1594G>T)
c.8535G>T (p.Glu2845Asp)
c.2388G>T (p.Glu796Asp)
c.8625G>T (p.Glu2875Asp)
c.8622G>T (p.Glu2874Asp)
c.8403G>T (p.Glu2801Asp)
c.6612G>T (p.Glu2204Asp)
c.6162G>T (p.Glu2054Asp)
c.5370G>T (p.Glu1790Asp)
c.8532G>T (p.Glu2844Asp)
8g.60865475A>CCA371310310CHD7n.1712A>C
n.643A>C
c.*1595A>C (n.*1595A>C)
c.8536A>C (p.Lys2846Gln)
c.2389A>C (p.Lys797Gln)
c.8626A>C (p.Lys2876Gln)
c.8623A>C (p.Lys2875Gln)
c.8404A>C (p.Lys2802Gln)
c.6613A>C (p.Lys2205Gln)
c.6163A>C (p.Lys2055Gln)
c.5371A>C (p.Lys1791Gln)
c.8533A>C (p.Lys2845Gln)
8g.60865475A>GCA371310313CHD7n.1712A>G
n.643A>G
c.*1595A>G (n.*1595A>G)
c.8536A>G (p.Lys2846Glu)
c.2389A>G (p.Lys797Glu)
c.8626A>G (p.Lys2876Glu)
c.8623A>G (p.Lys2875Glu)
c.8404A>G (p.Lys2802Glu)
c.6613A>G (p.Lys2205Glu)
c.6163A>G (p.Lys2055Glu)
c.5371A>G (p.Lys1791Glu)
c.8533A>G (p.Lys2845Glu)
8g.60865475A>TCA371310318CHD7n.1712A>T
n.643A>T
c.*1595A>T (n.*1595A>T)
c.8536A>T (p.Lys2846Ter)
c.2389A>T (p.Lys797Ter)
c.8626A>T (p.Lys2876Ter)
c.8623A>T (p.Lys2875Ter)
c.8404A>T (p.Lys2802Ter)
c.6613A>T (p.Lys2205Ter)
c.6163A>T (p.Lys2055Ter)
c.5371A>T (p.Lys1791Ter)
c.8533A>T (p.Lys2845Ter)
8g.60865476A>CCA371310326CHD7n.1713A>C
n.644A>C
c.*1596A>C (n.*1596A>C)
c.8537A>C (p.Lys2846Thr)
c.2390A>C (p.Lys797Thr)
c.8627A>C (p.Lys2876Thr)
c.8624A>C (p.Lys2875Thr)
c.8405A>C (p.Lys2802Thr)
c.6614A>C (p.Lys2205Thr)
c.6164A>C (p.Lys2055Thr)
c.5372A>C (p.Lys1791Thr)
c.8534A>C (p.Lys2845Thr)
8g.60865476A>GCA371310320CHD7n.1713A>G
n.644A>G
c.*1596A>G (n.*1596A>G)
c.8537A>G (p.Lys2846Arg)
c.2390A>G (p.Lys797Arg)
c.8627A>G (p.Lys2876Arg)
c.8624A>G (p.Lys2875Arg)
c.8405A>G (p.Lys2802Arg)
c.6614A>G (p.Lys2205Arg)
c.6164A>G (p.Lys2055Arg)
c.5372A>G (p.Lys1791Arg)
c.8534A>G (p.Lys2845Arg)
8g.60865476A>TCA371310323CHD7n.1713A>T
n.644A>T
c.*1596A>T (n.*1596A>T)
c.8537A>T (p.Lys2846Ile)
c.2390A>T (p.Lys797Ile)
c.8627A>T (p.Lys2876Ile)
c.8624A>T (p.Lys2875Ile)
c.8405A>T (p.Lys2802Ile)
c.6614A>T (p.Lys2205Ile)
c.6164A>T (p.Lys2055Ile)
c.5372A>T (p.Lys1791Ile)
c.8534A>T (p.Lys2845Ile)
8g.60865477A>CCA371310335CHD7n.1714A>C
n.645A>C
c.*1597A>C (n.*1597A>C)
c.8538A>C (p.Lys2846Asn)
c.2391A>C (p.Lys797Asn)
c.8628A>C (p.Lys2876Asn)
c.8625A>C (p.Lys2875Asn)
c.8406A>C (p.Lys2802Asn)
c.6615A>C (p.Lys2205Asn)
c.6165A>C (p.Lys2055Asn)
c.5373A>C (p.Lys1791Asn)
c.8535A>C (p.Lys2845Asn)
8g.60865477A>GCA461106004CHD7n.1714A>G
n.645A>G
c.*1597A>G (n.*1597A>G)
c.8538A>G (p.Lys2846=)
c.2391A>G (p.Lys797=)
c.8628A>G (p.Lys2876=)
c.8625A>G (p.Lys2875=)
c.8406A>G (p.Lys2802=)
c.6615A>G (p.Lys2205=)
c.6165A>G (p.Lys2055=)
c.5373A>G (p.Lys1791=)
c.8535A>G (p.Lys2845=)
 gnomAD v4
8g.60865477A>TCA371310339CHD7n.1714A>T
n.645A>T
c.*1597A>T (n.*1597A>T)
c.8538A>T (p.Lys2846Asn)
c.2391A>T (p.Lys797Asn)
c.8628A>T (p.Lys2876Asn)
c.8625A>T (p.Lys2875Asn)
c.8406A>T (p.Lys2802Asn)
c.6615A>T (p.Lys2205Asn)
c.6165A>T (p.Lys2055Asn)
c.5373A>T (p.Lys1791Asn)
c.8535A>T (p.Lys2845Asn)
8g.60865478G>ACA371310343CHD7n.1715G>A
n.646G>A
c.*1598G>A (n.*1598G>A)
c.8539G>A (p.Gly2847Arg)
c.2392G>A (p.Gly798Arg)
c.8629G>A (p.Gly2877Arg)
c.8626G>A (p.Gly2876Arg)
c.8407G>A (p.Gly2803Arg)
c.6616G>A (p.Gly2206Arg)
c.6166G>A (p.Gly2056Arg)
c.5374G>A (p.Gly1792Arg)
c.8536G>A (p.Gly2846Arg)
 gnomAD v4
8g.60865478G>CCA371310346CHD7n.1715G>C
n.646G>C
c.*1598G>C (n.*1598G>C)
c.8539G>C (p.Gly2847Arg)
c.2392G>C (p.Gly798Arg)
c.8629G>C (p.Gly2877Arg)
c.8626G>C (p.Gly2876Arg)
c.8407G>C (p.Gly2803Arg)
c.6616G>C (p.Gly2206Arg)
c.6166G>C (p.Gly2056Arg)
c.5374G>C (p.Gly1792Arg)
c.8536G>C (p.Gly2846Arg)
8g.60865478G>TCA371310353CHD7n.1715G>T
n.646G>T
c.*1598G>T (n.*1598G>T)
c.8539G>T (p.Gly2847Ter)
c.2392G>T (p.Gly798Ter)
c.8629G>T (p.Gly2877Ter)
c.8626G>T (p.Gly2876Ter)
c.8407G>T (p.Gly2803Ter)
c.6616G>T (p.Gly2206Ter)
c.6166G>T (p.Gly2056Ter)
c.5374G>T (p.Gly1792Ter)
c.8536G>T (p.Gly2846Ter)
8g.60865479G>ACA371310356CHD7n.1716G>A
n.647G>A
c.*1599G>A (n.*1599G>A)
c.8540G>A (p.Gly2847Glu)
c.2393G>A (p.Gly798Glu)
c.8630G>A (p.Gly2877Glu)
c.8627G>A (p.Gly2876Glu)
c.8408G>A (p.Gly2803Glu)
c.6617G>A (p.Gly2206Glu)
c.6167G>A (p.Gly2056Glu)
c.5375G>A (p.Gly1792Glu)
c.8537G>A (p.Gly2846Glu)
 dbSNP gnomAD v3 gnomAD v4
8g.60865479G>CCA371310357CHD7n.1716G>C
n.647G>C
c.*1599G>C (n.*1599G>C)
c.8540G>C (p.Gly2847Ala)
c.2393G>C (p.Gly798Ala)
c.8630G>C (p.Gly2877Ala)
c.8627G>C (p.Gly2876Ala)
c.8408G>C (p.Gly2803Ala)
c.6617G>C (p.Gly2206Ala)
c.6167G>C (p.Gly2056Ala)
c.5375G>C (p.Gly1792Ala)
c.8537G>C (p.Gly2846Ala)
8g.60865479G=CA1788130533CHD7n.1716G=
n.647G=
c.*1599G= (n.*1599G=)
c.8540G= (p.Gly2847=)
c.2393G= (p.Gly798=)
c.8630G= (p.Gly2877=)
c.8627G= (p.Gly2876=)
c.8408G= (p.Gly2803=)
c.6617G= (p.Gly2206=)
c.6167G= (p.Gly2056=)
c.5375G= (p.Gly1792=)
c.8537G= (p.Gly2846=)
8g.60865479G>TCA371310359CHD7n.1716G>T
n.647G>T
c.*1599G>T (n.*1599G>T)
c.8540G>T (p.Gly2847Val)
c.2393G>T (p.Gly798Val)
c.8630G>T (p.Gly2877Val)
c.8627G>T (p.Gly2876Val)
c.8408G>T (p.Gly2803Val)
c.6617G>T (p.Gly2206Val)
c.6167G>T (p.Gly2056Val)
c.5375G>T (p.Gly1792Val)
c.8537G>T (p.Gly2846Val)
8g.60865480A=CA1788130539CHD7n.1717A=
n.648A=
c.*1600A= (n.*1600A=)
c.8541A= (p.Gly2847=)
c.2394A= (p.Gly798=)
c.8631A= (p.Gly2877=)
c.8628A= (p.Gly2876=)
c.8409A= (p.Gly2803=)
c.6618A= (p.Gly2206=)
c.6168A= (p.Gly2056=)
c.5376A= (p.Gly1792=)
c.8538A= (p.Gly2846=)
8g.60865480A>CCA461106010CHD7n.1717A>C
n.648A>C
c.*1600A>C (n.*1600A>C)
c.8541A>C (p.Gly2847=)
c.2394A>C (p.Gly798=)
c.8631A>C (p.Gly2877=)
c.8628A>C (p.Gly2876=)
c.8409A>C (p.Gly2803=)
c.6618A>C (p.Gly2206=)
c.6168A>C (p.Gly2056=)
c.5376A>C (p.Gly1792=)
c.8538A>C (p.Gly2846=)
8g.60865480A>GCA461106016CHD7n.1717A>G
n.648A>G
c.*1600A>G (n.*1600A>G)
c.8541A>G (p.Gly2847=)
c.2394A>G (p.Gly798=)
c.8631A>G (p.Gly2877=)
c.8628A>G (p.Gly2876=)
c.8409A>G (p.Gly2803=)
c.6618A>G (p.Gly2206=)
c.6168A>G (p.Gly2056=)
c.5376A>G (p.Gly1792=)
c.8538A>G (p.Gly2846=)
 dbSNP
8g.60865480A>TCA461106013CHD7n.1717A>T
n.648A>T
c.*1600A>T (n.*1600A>T)
c.8541A>T (p.Gly2847=)
c.2394A>T (p.Gly798=)
c.8631A>T (p.Gly2877=)
c.8628A>T (p.Gly2876=)
c.8409A>T (p.Gly2803=)
c.6618A>T (p.Gly2206=)
c.6168A>T (p.Gly2056=)
c.5376A>T (p.Gly1792=)
c.8538A>T (p.Gly2846=)
8g.60865481A>CCA371310363CHD7n.1718A>C
n.649A>C
c.*1601A>C (n.*1601A>C)
c.8542A>C (p.Asn2848His)
c.2395A>C (p.Asn799His)
c.8632A>C (p.Asn2878His)
c.8629A>C (p.Asn2877His)
c.8410A>C (p.Asn2804His)
c.6619A>C (p.Asn2207His)
c.6169A>C (p.Asn2057His)
c.5377A>C (p.Asn1793His)
c.8539A>C (p.Asn2847His)
8g.60865481A>GCA371310366CHD7n.1718A>G
n.649A>G
c.*1601A>G (n.*1601A>G)
c.8542A>G (p.Asn2848Asp)
c.2395A>G (p.Asn799Asp)
c.8632A>G (p.Asn2878Asp)
c.8629A>G (p.Asn2877Asp)
c.8410A>G (p.Asn2804Asp)
c.6619A>G (p.Asn2207Asp)
c.6169A>G (p.Asn2057Asp)
c.5377A>G (p.Asn1793Asp)
c.8539A>G (p.Asn2847Asp)
8g.60865481A>TCA371310370CHD7n.1718A>T
n.649A>T
c.*1601A>T (n.*1601A>T)
c.8542A>T (p.Asn2848Tyr)
c.2395A>T (p.Asn799Tyr)
c.8632A>T (p.Asn2878Tyr)
c.8629A>T (p.Asn2877Tyr)
c.8410A>T (p.Asn2804Tyr)
c.6619A>T (p.Asn2207Tyr)
c.6169A>T (p.Asn2057Tyr)
c.5377A>T (p.Asn1793Tyr)
c.8539A>T (p.Asn2847Tyr)
8g.60865482A>CCA371310375CHD7n.1719A>C
n.650A>C
c.*1602A>C (n.*1602A>C)
c.8543A>C (p.Asn2848Thr)
c.2396A>C (p.Asn799Thr)
c.8633A>C (p.Asn2878Thr)
c.8630A>C (p.Asn2877Thr)
c.8411A>C (p.Asn2804Thr)
c.6620A>C (p.Asn2207Thr)
c.6170A>C (p.Asn2057Thr)
c.5378A>C (p.Asn1793Thr)
c.8540A>C (p.Asn2847Thr)
8g.60865482A>GCA371310378CHD7n.1719A>G
n.650A>G
c.*1602A>G (n.*1602A>G)
c.8543A>G (p.Asn2848Ser)
c.2396A>G (p.Asn799Ser)
c.8633A>G (p.Asn2878Ser)
c.8630A>G (p.Asn2877Ser)
c.8411A>G (p.Asn2804Ser)
c.6620A>G (p.Asn2207Ser)
c.6170A>G (p.Asn2057Ser)
c.5378A>G (p.Asn1793Ser)
c.8540A>G (p.Asn2847Ser)
 gnomAD v4
8g.60865482A>TCA371310372CHD7n.1719A>T
n.650A>T
c.*1602A>T (n.*1602A>T)
c.8543A>T (p.Asn2848Ile)
c.2396A>T (p.Asn799Ile)
c.8633A>T (p.Asn2878Ile)
c.8630A>T (p.Asn2877Ile)
c.8411A>T (p.Asn2804Ile)
c.6620A>T (p.Asn2207Ile)
c.6170A>T (p.Asn2057Ile)
c.5378A>T (p.Asn1793Ile)
c.8540A>T (p.Asn2847Ile)
8g.60865483T>ACA371310382CHD7n.1720T>A
n.651T>A
c.*1603T>A (n.*1603T>A)
c.8544T>A (p.Asn2848Lys)
c.2397T>A (p.Asn799Lys)
c.8634T>A (p.Asn2878Lys)
c.8631T>A (p.Asn2877Lys)
c.8412T>A (p.Asn2804Lys)
c.6621T>A (p.Asn2207Lys)
c.6171T>A (p.Asn2057Lys)
c.5379T>A (p.Asn1793Lys)
c.8541T>A (p.Asn2847Lys)
 dbSNP gnomAD v2 gnomAD v4
8g.60865483T>CCA461106022CHD7n.1720T>C
n.651T>C
c.*1603T>C (n.*1603T>C)
c.8544T>C (p.Asn2848=)
c.2397T>C (p.Asn799=)
c.8634T>C (p.Asn2878=)
c.8631T>C (p.Asn2877=)
c.8412T>C (p.Asn2804=)
c.6621T>C (p.Asn2207=)
c.6171T>C (p.Asn2057=)
c.5379T>C (p.Asn1793=)
c.8541T>C (p.Asn2847=)
 dbSNP
8g.60865483T>GCA371310383CHD7n.1720T>G
n.651T>G
c.*1603T>G (n.*1603T>G)
c.8544T>G (p.Asn2848Lys)
c.2397T>G (p.Asn799Lys)
c.8634T>G (p.Asn2878Lys)
c.8631T>G (p.Asn2877Lys)
c.8412T>G (p.Asn2804Lys)
c.6621T>G (p.Asn2207Lys)
c.6171T>G (p.Asn2057Lys)
c.5379T>G (p.Asn1793Lys)
c.8541T>G (p.Asn2847Lys)
 dbSNP gnomAD v3 gnomAD v4
8g.60865483T=CA1788130541CHD7n.1720T=
n.651T=
c.*1603T= (n.*1603T=)
c.8544T= (p.Asn2848=)
c.2397T= (p.Asn799=)
c.8634T= (p.Asn2878=)
c.8631T= (p.Asn2877=)
c.8412T= (p.Asn2804=)
c.6621T= (p.Asn2207=)
c.6171T= (p.Asn2057=)
c.5379T= (p.Asn1793=)
c.8541T= (p.Asn2847=)
8g.60865484G>ACA371310384CHD7n.1721G>A
n.652G>A
c.*1604G>A (n.*1604G>A)
c.8545G>A (p.Glu2849Lys)
c.2398G>A (p.Glu800Lys)
c.8635G>A (p.Glu2879Lys)
c.8632G>A (p.Glu2878Lys)
c.8413G>A (p.Glu2805Lys)
c.6622G>A (p.Glu2208Lys)
c.6172G>A (p.Glu2058Lys)
c.5380G>A (p.Glu1794Lys)
c.8542G>A (p.Glu2848Lys)
 gnomAD v4
8g.60865484G>CCA371310387CHD7n.1721G>C
n.652G>C
c.*1604G>C (n.*1604G>C)
c.8545G>C (p.Glu2849Gln)
c.2398G>C (p.Glu800Gln)
c.8635G>C (p.Glu2879Gln)
c.8632G>C (p.Glu2878Gln)
c.8413G>C (p.Glu2805Gln)
c.6622G>C (p.Glu2208Gln)
c.6172G>C (p.Glu2058Gln)
c.5380G>C (p.Glu1794Gln)
c.8542G>C (p.Glu2848Gln)
8g.60865484G>TCA371310390CHD7n.1721G>T
n.652G>T
c.*1604G>T (n.*1604G>T)
c.8545G>T (p.Glu2849Ter)
c.2398G>T (p.Glu800Ter)
c.8635G>T (p.Glu2879Ter)
c.8632G>T (p.Glu2878Ter)
c.8413G>T (p.Glu2805Ter)
c.6622G>T (p.Glu2208Ter)
c.6172G>T (p.Glu2058Ter)
c.5380G>T (p.Glu1794Ter)
c.8542G>T (p.Glu2848Ter)
8g.60865484_60865491delinsGAGAATGACA1788130552CHD7n.1721_1728delinsGAGAATGA
n.652_659delinsGAGAATGA
c.*1604_*1611delinsGAGAATGA (n.*1604_*1611delinsGAGAATGA)
c.8545_8552delinsGAGAATGA (p.Glu2849=)
c.2398_2405delinsGAGAATGA (p.Glu800=)
c.8635_8642delinsGAGAATGA (p.Glu2879=)
c.8632_8639delinsGAGAATGA (p.Glu2878=)
c.8413_8420delinsGAGAATGA (p.Glu2805=)
c.6622_6629delinsGAGAATGA (p.Glu2208=)
c.6172_6179delinsGAGAATGA (p.Glu2058=)
c.5380_5387delinsGAGAATGA (p.Glu1794=)
c.8542_8549delinsGAGAATGA (p.Glu2848=)
8g.60865485delCA2573143279CHD7n.1722del
n.653del
c.*1605del (n.*1605del)
c.8546del (p.Glu2849GlyfsTer?)
c.2399del (p.Glu800GlyfsTer?)
c.8636del (p.Glu2879GlyfsTer?)
c.8633del (p.Glu2878GlyfsTer?)
c.8414del (p.Glu2805GlyfsTer?)
c.6623del (p.Glu2208GlyfsTer?)
c.6173del (p.Glu2058GlyfsTer?)
c.5381del (p.Glu1794GlyfsTer?)
c.8543del (p.Glu2848GlyfsTer?)
 ClinVar dbSNP
8g.60865485A>CCA371310400CHD7n.1722A>C
n.653A>C
c.*1605A>C (n.*1605A>C)
c.8546A>C (p.Glu2849Ala)
c.2399A>C (p.Glu800Ala)
c.8636A>C (p.Glu2879Ala)
c.8633A>C (p.Glu2878Ala)
c.8414A>C (p.Glu2805Ala)
c.6623A>C (p.Glu2208Ala)
c.6173A>C (p.Glu2058Ala)
c.5381A>C (p.Glu1794Ala)
c.8543A>C (p.Glu2848Ala)
8g.60865485A>GCA371310394CHD7n.1722A>G
n.653A>G
c.*1605A>G (n.*1605A>G)
c.8546A>G (p.Glu2849Gly)
c.2399A>G (p.Glu800Gly)
c.8636A>G (p.Glu2879Gly)
c.8633A>G (p.Glu2878Gly)
c.8414A>G (p.Glu2805Gly)
c.6623A>G (p.Glu2208Gly)
c.6173A>G (p.Glu2058Gly)
c.5381A>G (p.Glu1794Gly)
c.8543A>G (p.Glu2848Gly)
 gnomAD v4
8g.60865485A>TCA371310397CHD7n.1722A>T
n.653A>T
c.*1605A>T (n.*1605A>T)
c.8546A>T (p.Glu2849Val)
c.2399A>T (p.Glu800Val)
c.8636A>T (p.Glu2879Val)
c.8633A>T (p.Glu2878Val)
c.8414A>T (p.Glu2805Val)
c.6623A>T (p.Glu2208Val)
c.6173A>T (p.Glu2058Val)
c.5381A>T (p.Glu1794Val)
c.8543A>T (p.Glu2848Val)
8g.60865488_60865494delCA891842505CHD7n.1725_1731del
n.656_662del
c.*1608_*1614del (n.*1608_*1614del)
c.8549_8555del (p.Asn2850ThrfsTer?)
c.2402_2408del (p.Asn801ThrfsTer?)
c.8639_8645del (p.Asn2880ThrfsTer?)
c.8636_8642del (p.Asn2879ThrfsTer?)
c.8417_8423del (p.Asn2806ThrfsTer?)
c.6626_6632del (p.Asn2209ThrfsTer?)
c.6176_6182del (p.Asn2059ThrfsTer?)
c.5384_5390del (p.Asn1795ThrfsTer?)
c.8546_8552del (p.Asn2849ThrfsTer?)
 ClinVar dbSNP
8g.60865486G>ACA461106028CHD7n.1723G>A
n.654G>A
c.*1606G>A (n.*1606G>A)
c.8547G>A (p.Glu2849=)
c.2400G>A (p.Glu800=)
c.8637G>A (p.Glu2879=)
c.8634G>A (p.Glu2878=)
c.8415G>A (p.Glu2805=)
c.6624G>A (p.Glu2208=)
c.6174G>A (p.Glu2058=)
c.5382G>A (p.Glu1794=)
c.8544G>A (p.Glu2848=)
 gnomAD v4
8g.60865486G>CCA371310402CHD7n.1723G>C
n.654G>C
c.*1606G>C (n.*1606G>C)
c.8547G>C (p.Glu2849Asp)
c.2400G>C (p.Glu800Asp)
c.8637G>C (p.Glu2879Asp)
c.8634G>C (p.Glu2878Asp)
c.8415G>C (p.Glu2805Asp)
c.6624G>C (p.Glu2208Asp)
c.6174G>C (p.Glu2058Asp)
c.5382G>C (p.Glu1794Asp)
c.8544G>C (p.Glu2848Asp)
8g.60865486G>TCA371310404CHD7n.1723G>T
n.654G>T
c.*1606G>T (n.*1606G>T)
c.8547G>T (p.Glu2849Asp)
c.2400G>T (p.Glu800Asp)
c.8637G>T (p.Glu2879Asp)
c.8634G>T (p.Glu2878Asp)
c.8415G>T (p.Glu2805Asp)
c.6624G>T (p.Glu2208Asp)
c.6174G>T (p.Glu2058Asp)
c.5382G>T (p.Glu1794Asp)
c.8544G>T (p.Glu2848Asp)

Number of alleles fetched