Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.60853231A>CCA371325521CHD7c.6506A>C (p.Glu2169Ala)
c.1717-8998A>C (n.1717-8998A>C)
c.6596A>C (p.Glu2199Ala)
c.4583A>C (p.Glu1528Ala)
c.4133A>C (p.Glu1378Ala)
c.3341A>C (p.Glu1114Ala)
8g.60853231A>GCA371325519CHD7c.6506A>G (p.Glu2169Gly)
c.1717-8998A>G (n.1717-8998A>G)
c.6596A>G (p.Glu2199Gly)
c.4583A>G (p.Glu1528Gly)
c.4133A>G (p.Glu1378Gly)
c.3341A>G (p.Glu1114Gly)
8g.60853231A>TCA371325517CHD7c.6506A>T (p.Glu2169Val)
c.1717-8998A>T (n.1717-8998A>T)
c.6596A>T (p.Glu2199Val)
c.4583A>T (p.Glu1528Val)
c.4133A>T (p.Glu1378Val)
c.3341A>T (p.Glu1114Val)
8g.60853232A>CCA371325523CHD7c.6507A>C (p.Glu2169Asp)
c.1717-8997A>C (n.1717-8997A>C)
c.6597A>C (p.Glu2199Asp)
c.4584A>C (p.Glu1528Asp)
c.4134A>C (p.Glu1378Asp)
c.3342A>C (p.Glu1114Asp)
8g.60853232A>GCA461105079CHD7c.6507A>G (p.Glu2169=)
c.1717-8997A>G (n.1717-8997A>G)
c.6597A>G (p.Glu2199=)
c.4584A>G (p.Glu1528=)
c.4134A>G (p.Glu1378=)
c.3342A>G (p.Glu1114=)
8g.60853232A>TCA371325524CHD7c.6507A>T (p.Glu2169Asp)
c.1717-8997A>T (n.1717-8997A>T)
c.6597A>T (p.Glu2199Asp)
c.4584A>T (p.Glu1528Asp)
c.4134A>T (p.Glu1378Asp)
c.3342A>T (p.Glu1114Asp)
8g.60853233C>ACA4760601CHD7c.6508C>A (p.Gln2170Lys)
c.1717-8996C>A (n.1717-8996C>A)
c.6598C>A (p.Gln2200Lys)
c.4585C>A (p.Gln1529Lys)
c.4135C>A (p.Gln1379Lys)
c.3343C>A (p.Gln1115Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60853233C=CA1788104238CHD7c.6508C= (p.Gln2170=)
c.1717-8996C= (n.1717-8996C=)
c.6598C= (p.Gln2200=)
c.4585C= (p.Gln1529=)
c.4135C= (p.Gln1379=)
c.3343C= (p.Gln1115=)
8g.60853233C>GCA371325527CHD7c.6508C>G (p.Gln2170Glu)
c.1717-8996C>G (n.1717-8996C>G)
c.6598C>G (p.Gln2200Glu)
c.4585C>G (p.Gln1529Glu)
c.4135C>G (p.Gln1379Glu)
c.3343C>G (p.Gln1115Glu)
8g.60853233C>TCA371325529CHD7c.6508C>T (p.Gln2170Ter)
c.1717-8996C>T (n.1717-8996C>T)
c.6598C>T (p.Gln2200Ter)
c.4585C>T (p.Gln1529Ter)
c.4135C>T (p.Gln1379Ter)
c.3343C>T (p.Gln1115Ter)
8g.60853234A>CCA371325532CHD7c.6509A>C (p.Gln2170Pro)
c.1717-8995A>C (n.1717-8995A>C)
c.6599A>C (p.Gln2200Pro)
c.4586A>C (p.Gln1529Pro)
c.4136A>C (p.Gln1379Pro)
c.3344A>C (p.Gln1115Pro)
8g.60853234A>GCA371325533CHD7c.6509A>G (p.Gln2170Arg)
c.1717-8995A>G (n.1717-8995A>G)
c.6599A>G (p.Gln2200Arg)
c.4586A>G (p.Gln1529Arg)
c.4136A>G (p.Gln1379Arg)
c.3344A>G (p.Gln1115Arg)
8g.60853234A>TCA371325535CHD7c.6509A>T (p.Gln2170Leu)
c.1717-8995A>T (n.1717-8995A>T)
c.6599A>T (p.Gln2200Leu)
c.4586A>T (p.Gln1529Leu)
c.4136A>T (p.Gln1379Leu)
c.3344A>T (p.Gln1115Leu)
8g.60853235A>CCA371325537CHD7c.6510A>C (p.Gln2170His)
c.1717-8994A>C (n.1717-8994A>C)
c.6600A>C (p.Gln2200His)
c.4587A>C (p.Gln1529His)
c.4137A>C (p.Gln1379His)
c.3345A>C (p.Gln1115His)
8g.60853235A>GCA461105081CHD7c.6510A>G (p.Gln2170=)
c.1717-8994A>G (n.1717-8994A>G)
c.6600A>G (p.Gln2200=)
c.4587A>G (p.Gln1529=)
c.4137A>G (p.Gln1379=)
c.3345A>G (p.Gln1115=)
8g.60853235A>TCA371325539CHD7c.6510A>T (p.Gln2170His)
c.1717-8994A>T (n.1717-8994A>T)
c.6600A>T (p.Gln2200His)
c.4587A>T (p.Gln1529His)
c.4137A>T (p.Gln1379His)
c.3345A>T (p.Gln1115His)
8g.60853236G>ACA371325540CHD7c.6511G>A (p.Ala2171Thr)
c.1717-8993G>A (n.1717-8993G>A)
c.6601G>A (p.Ala2201Thr)
c.4588G>A (p.Ala1530Thr)
c.4138G>A (p.Ala1380Thr)
c.3346G>A (p.Ala1116Thr)
 dbSNP
8g.60853236G>CCA371325541CHD7c.6511G>C (p.Ala2171Pro)
c.1717-8993G>C (n.1717-8993G>C)
c.6601G>C (p.Ala2201Pro)
c.4588G>C (p.Ala1530Pro)
c.4138G>C (p.Ala1380Pro)
c.3346G>C (p.Ala1116Pro)
8g.60853236G>TCA371325542CHD7c.6511G>T (p.Ala2171Ser)
c.1717-8993G>T (n.1717-8993G>T)
c.6601G>T (p.Ala2201Ser)
c.4588G>T (p.Ala1530Ser)
c.4138G>T (p.Ala1380Ser)
c.3346G>T (p.Ala1116Ser)
8g.60853237C>ACA371325544CHD7c.6512C>A (p.Ala2171Asp)
c.1717-8992C>A (n.1717-8992C>A)
c.6602C>A (p.Ala2201Asp)
c.4589C>A (p.Ala1530Asp)
c.4139C>A (p.Ala1380Asp)
c.3347C>A (p.Ala1116Asp)
8g.60853237C>GCA371325546CHD7c.6512C>G (p.Ala2171Gly)
c.1717-8992C>G (n.1717-8992C>G)
c.6602C>G (p.Ala2201Gly)
c.4589C>G (p.Ala1530Gly)
c.4139C>G (p.Ala1380Gly)
c.3347C>G (p.Ala1116Gly)
8g.60853237C>TCA371325543CHD7c.6512C>T (p.Ala2171Val)
c.1717-8992C>T (n.1717-8992C>T)
c.6602C>T (p.Ala2201Val)
c.4589C>T (p.Ala1530Val)
c.4139C>T (p.Ala1380Val)
c.3347C>T (p.Ala1116Val)
 gnomAD v4
8g.60853238C>ACA177354140CHD7c.6513C>A (p.Ala2171=)
c.1717-8991C>A (n.1717-8991C>A)
c.6603C>A (p.Ala2201=)
c.4590C>A (p.Ala1530=)
c.4140C>A (p.Ala1380=)
c.3348C>A (p.Ala1116=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60853238C=CA1788104247CHD7c.6513C= (p.Ala2171=)
c.1717-8991C= (n.1717-8991C=)
c.6603C= (p.Ala2201=)
c.4590C= (p.Ala1530=)
c.4140C= (p.Ala1380=)
c.3348C= (p.Ala1116=)
8g.60853238C>GCA461105086CHD7c.6513C>G (p.Ala2171=)
c.1717-8991C>G (n.1717-8991C>G)
c.6603C>G (p.Ala2201=)
c.4590C>G (p.Ala1530=)
c.4140C>G (p.Ala1380=)
c.3348C>G (p.Ala1116=)
8g.60853238C>TCA223315CHD7c.6513C>T (p.Ala2171=)
c.1717-8991C>T (n.1717-8991C>T)
c.6603C>T (p.Ala2201=)
c.4590C>T (p.Ala1530=)
c.4140C>T (p.Ala1380=)
c.3348C>T (p.Ala1116=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853239G>ACA4760602CHD7c.6514G>A (p.Glu2172Lys)
c.1717-8990G>A (n.1717-8990G>A)
c.6604G>A (p.Glu2202Lys)
c.4591G>A (p.Glu1531Lys)
c.4141G>A (p.Glu1381Lys)
c.3349G>A (p.Glu1117Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.60853239G>CCA371325549CHD7c.6514G>C (p.Glu2172Gln)
c.1717-8990G>C (n.1717-8990G>C)
c.6604G>C (p.Glu2202Gln)
c.4591G>C (p.Glu1531Gln)
c.4141G>C (p.Glu1381Gln)
c.3349G>C (p.Glu1117Gln)
8g.60853239G=CA1788104258CHD7c.6514G= (p.Glu2172=)
c.1717-8990G= (n.1717-8990G=)
c.6604G= (p.Glu2202=)
c.4591G= (p.Glu1531=)
c.4141G= (p.Glu1381=)
c.3349G= (p.Glu1117=)
8g.60853239G>TCA371325550CHD7c.6514G>T (p.Glu2172Ter)
c.1717-8990G>T (n.1717-8990G>T)
c.6604G>T (p.Glu2202Ter)
c.4591G>T (p.Glu1531Ter)
c.4141G>T (p.Glu1381Ter)
c.3349G>T (p.Glu1117Ter)
 ClinVar dbSNP
8g.60853240A>CCA371325552CHD7c.6515A>C (p.Glu2172Ala)
c.1717-8989A>C (n.1717-8989A>C)
c.6605A>C (p.Glu2202Ala)
c.4592A>C (p.Glu1531Ala)
c.4142A>C (p.Glu1381Ala)
c.3350A>C (p.Glu1117Ala)
8g.60853240A>GCA371325554CHD7c.6515A>G (p.Glu2172Gly)
c.1717-8989A>G (n.1717-8989A>G)
c.6605A>G (p.Glu2202Gly)
c.4592A>G (p.Glu1531Gly)
c.4142A>G (p.Glu1381Gly)
c.3350A>G (p.Glu1117Gly)
8g.60853240A>TCA371325555CHD7c.6515A>T (p.Glu2172Val)
c.1717-8989A>T (n.1717-8989A>T)
c.6605A>T (p.Glu2202Val)
c.4592A>T (p.Glu1531Val)
c.4142A>T (p.Glu1381Val)
c.3350A>T (p.Glu1117Val)
8g.60853241A>CCA371325558CHD7c.6516A>C (p.Glu2172Asp)
c.1717-8988A>C (n.1717-8988A>C)
c.6606A>C (p.Glu2202Asp)
c.4593A>C (p.Glu1531Asp)
c.4143A>C (p.Glu1381Asp)
c.3351A>C (p.Glu1117Asp)
8g.60853241A>GCA461105088CHD7c.6516A>G (p.Glu2172=)
c.1717-8988A>G (n.1717-8988A>G)
c.6606A>G (p.Glu2202=)
c.4593A>G (p.Glu1531=)
c.4143A>G (p.Glu1381=)
c.3351A>G (p.Glu1117=)
8g.60853241A>TCA371325557CHD7c.6516A>T (p.Glu2172Asp)
c.1717-8988A>T (n.1717-8988A>T)
c.6606A>T (p.Glu2202Asp)
c.4593A>T (p.Glu1531Asp)
c.4143A>T (p.Glu1381Asp)
c.3351A>T (p.Glu1117Asp)
8g.60853242G>ACA371325561CHD7c.6517G>A (p.Gly2173Ser)
c.1717-8987G>A (n.1717-8987G>A)
c.6607G>A (p.Gly2203Ser)
c.4594G>A (p.Gly1532Ser)
c.4144G>A (p.Gly1382Ser)
c.3352G>A (p.Gly1118Ser)
8g.60853242G>CCA371325562CHD7c.6517G>C (p.Gly2173Arg)
c.1717-8987G>C (n.1717-8987G>C)
c.6607G>C (p.Gly2203Arg)
c.4594G>C (p.Gly1532Arg)
c.4144G>C (p.Gly1382Arg)
c.3352G>C (p.Gly1118Arg)
8g.60853242G>TCA371325564CHD7c.6517G>T (p.Gly2173Cys)
c.1717-8987G>T (n.1717-8987G>T)
c.6607G>T (p.Gly2203Cys)
c.4594G>T (p.Gly1532Cys)
c.4144G>T (p.Gly1382Cys)
c.3352G>T (p.Gly1118Cys)
8g.60853243G>ACA371325565CHD7c.6518G>A (p.Gly2173Asp)
c.1717-8986G>A (n.1717-8986G>A)
c.6608G>A (p.Gly2203Asp)
c.4595G>A (p.Gly1532Asp)
c.4145G>A (p.Gly1382Asp)
c.3353G>A (p.Gly1118Asp)
 dbSNP gnomAD v2 gnomAD v4
8g.60853243G>CCA371325566CHD7c.6518G>C (p.Gly2173Ala)
c.1717-8986G>C (n.1717-8986G>C)
c.6608G>C (p.Gly2203Ala)
c.4595G>C (p.Gly1532Ala)
c.4145G>C (p.Gly1382Ala)
c.3353G>C (p.Gly1118Ala)
8g.60853243G=CA1788104264CHD7c.6518G= (p.Gly2173=)
c.1717-8986G= (n.1717-8986G=)
c.6608G= (p.Gly2203=)
c.4595G= (p.Gly1532=)
c.4145G= (p.Gly1382=)
c.3353G= (p.Gly1118=)
8g.60853243G>TCA371325568CHD7c.6518G>T (p.Gly2173Val)
c.1717-8986G>T (n.1717-8986G>T)
c.6608G>T (p.Gly2203Val)
c.4595G>T (p.Gly1532Val)
c.4145G>T (p.Gly1382Val)
c.3353G>T (p.Gly1118Val)
8g.60853244C>ACA461105092CHD7c.6519C>A (p.Gly2173=)
c.1717-8985C>A (n.1717-8985C>A)
c.6609C>A (p.Gly2203=)
c.4596C>A (p.Gly1532=)
c.4146C>A (p.Gly1382=)
c.3354C>A (p.Gly1118=)
8g.60853244C>GCA461105093CHD7c.6519C>G (p.Gly2173=)
c.1717-8985C>G (n.1717-8985C>G)
c.6609C>G (p.Gly2203=)
c.4596C>G (p.Gly1532=)
c.4146C>G (p.Gly1382=)
c.3354C>G (p.Gly1118=)
8g.60853244C>TCA461105094CHD7c.6519C>T (p.Gly2173=)
c.1717-8985C>T (n.1717-8985C>T)
c.6609C>T (p.Gly2203=)
c.4596C>T (p.Gly1532=)
c.4146C>T (p.Gly1382=)
c.3354C>T (p.Gly1118=)
8g.60853245A>CCA371325570CHD7c.6520A>C (p.Lys2174Gln)
c.1717-8984A>C (n.1717-8984A>C)
c.6610A>C (p.Lys2204Gln)
c.4597A>C (p.Lys1533Gln)
c.4147A>C (p.Lys1383Gln)
c.3355A>C (p.Lys1119Gln)
8g.60853245A>GCA371325573CHD7c.6520A>G (p.Lys2174Glu)
c.1717-8984A>G (n.1717-8984A>G)
c.6610A>G (p.Lys2204Glu)
c.4597A>G (p.Lys1533Glu)
c.4147A>G (p.Lys1383Glu)
c.3355A>G (p.Lys1119Glu)
8g.60853245A>TCA371325572CHD7c.6520A>T (p.Lys2174Ter)
c.1717-8984A>T (n.1717-8984A>T)
c.6610A>T (p.Lys2204Ter)
c.4597A>T (p.Lys1533Ter)
c.4147A>T (p.Lys1383Ter)
c.3355A>T (p.Lys1119Ter)
8g.60853246A=CA1788104271CHD7c.6521A= (p.Lys2174=)
c.1717-8983A= (n.1717-8983A=)
c.6611A= (p.Lys2204=)
c.4598A= (p.Lys1533=)
c.4148A= (p.Lys1383=)
c.3356A= (p.Lys1119=)
8g.60853246A>CCA371325574CHD7c.6521A>C (p.Lys2174Thr)
c.1717-8983A>C (n.1717-8983A>C)
c.6611A>C (p.Lys2204Thr)
c.4598A>C (p.Lys1533Thr)
c.4148A>C (p.Lys1383Thr)
c.3356A>C (p.Lys1119Thr)
 gnomAD v4
8g.60853246A>GCA371325576CHD7c.6521A>G (p.Lys2174Arg)
c.1717-8983A>G (n.1717-8983A>G)
c.6611A>G (p.Lys2204Arg)
c.4598A>G (p.Lys1533Arg)
c.4148A>G (p.Lys1383Arg)
c.3356A>G (p.Lys1119Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60853246A>TCA371325577CHD7c.6521A>T (p.Lys2174Ile)
c.1717-8983A>T (n.1717-8983A>T)
c.6611A>T (p.Lys2204Ile)
c.4598A>T (p.Lys1533Ile)
c.4148A>T (p.Lys1383Ile)
c.3356A>T (p.Lys1119Ile)
8g.60853246_60853250delCA2580078863CHD7c.6521_6525del (p.Lys2174ArgfsTer4)
c.1717-8983_1717-8979del (n.1717-8983_1717-8979del)
c.6611_6615del (p.Lys2204ArgfsTer4)
c.4598_4602del (p.Lys1533ArgfsTer4)
c.4148_4152del (p.Lys1383ArgfsTer4)
c.3356_3360del (p.Lys1119ArgfsTer4)
 ClinVar
8g.60853247A=CA1788104276CHD7c.6522A= (p.Lys2174=)
c.1717-8982A= (n.1717-8982A=)
c.6612A= (p.Lys2204=)
c.4599A= (p.Lys1533=)
c.4149A= (p.Lys1383=)
c.3357A= (p.Lys1119=)
8g.60853247A>CCA371325583CHD7c.6522A>C (p.Lys2174Asn)
c.1717-8982A>C (n.1717-8982A>C)
c.6612A>C (p.Lys2204Asn)
c.4599A>C (p.Lys1533Asn)
c.4149A>C (p.Lys1383Asn)
c.3357A>C (p.Lys1119Asn)
8g.60853247A>GCA461105099CHD7c.6522A>G (p.Lys2174=)
c.1717-8982A>G (n.1717-8982A>G)
c.6612A>G (p.Lys2204=)
c.4599A>G (p.Lys1533=)
c.4149A>G (p.Lys1383=)
c.3357A>G (p.Lys1119=)
 gnomAD v4
8g.60853247A>TCA4760603CHD7c.6522A>T (p.Lys2174Asn)
c.1717-8982A>T (n.1717-8982A>T)
c.6612A>T (p.Lys2204Asn)
c.4599A>T (p.Lys1533Asn)
c.4149A>T (p.Lys1383Asn)
c.3357A>T (p.Lys1119Asn)
 dbSNP ExAC gnomAD v2
8g.60853248G>ACA371325588CHD7c.6523G>A (p.Val2175Met)
c.1717-8981G>A (n.1717-8981G>A)
c.6613G>A (p.Val2205Met)
c.4600G>A (p.Val1534Met)
c.4150G>A (p.Val1384Met)
c.3358G>A (p.Val1120Met)
 dbSNP gnomAD v4
8g.60853248G>CCA371325589CHD7c.6523G>C (p.Val2175Leu)
c.1717-8981G>C (n.1717-8981G>C)
c.6613G>C (p.Val2205Leu)
c.4600G>C (p.Val1534Leu)
c.4150G>C (p.Val1384Leu)
c.3358G>C (p.Val1120Leu)
8g.60853248G=CA1788104293CHD7c.6523G= (p.Val2175=)
c.1717-8981G= (n.1717-8981G=)
c.6613G= (p.Val2205=)
c.4600G= (p.Val1534=)
c.4150G= (p.Val1384=)
c.3358G= (p.Val1120=)
8g.60853248G>TCA371325590CHD7c.6523G>T (p.Val2175Leu)
c.1717-8981G>T (n.1717-8981G>T)
c.6613G>T (p.Val2205Leu)
c.4600G>T (p.Val1534Leu)
c.4150G>T (p.Val1384Leu)
c.3358G>T (p.Val1120Leu)
8g.60853249T>ACA371325592CHD7c.6524T>A (p.Val2175Glu)
c.1717-8980T>A (n.1717-8980T>A)
c.6614T>A (p.Val2205Glu)
c.4601T>A (p.Val1534Glu)
c.4151T>A (p.Val1384Glu)
c.3359T>A (p.Val1120Glu)
8g.60853249T>CCA371325593CHD7c.6524T>C (p.Val2175Ala)
c.1717-8980T>C (n.1717-8980T>C)
c.6614T>C (p.Val2205Ala)
c.4601T>C (p.Val1534Ala)
c.4151T>C (p.Val1384Ala)
c.3359T>C (p.Val1120Ala)
8g.60853249T>GCA371325595CHD7c.6524T>G (p.Val2175Gly)
c.1717-8980T>G (n.1717-8980T>G)
c.6614T>G (p.Val2205Gly)
c.4601T>G (p.Val1534Gly)
c.4151T>G (p.Val1384Gly)
c.3359T>G (p.Val1120Gly)
 dbSNP
8g.60853249T=CA1788104302CHD7c.6524T= (p.Val2175=)
c.1717-8980T= (n.1717-8980T=)
c.6614T= (p.Val2205=)
c.4601T= (p.Val1534=)
c.4151T= (p.Val1384=)
c.3359T= (p.Val1120=)
8g.60853249_60853250delinsTGCA1788104299CHD7c.6524_6525delinsTG (p.Val2175=)
c.1717-8980_1717-8979delinsTG (n.1717-8980_1717-8979delinsTG)
c.6614_6615delinsTG (p.Val2205=)
c.4601_4602delinsTG (p.Val1534=)
c.4151_4152delinsTG (p.Val1384=)
c.3359_3360delinsTG (p.Val1120=)
8g.60853250G>ACA461105105CHD7c.6525G>A (p.Val2175=)
c.1717-8979G>A (n.1717-8979G>A)
c.6615G>A (p.Val2205=)
c.4602G>A (p.Val1534=)
c.4152G>A (p.Val1384=)
c.3360G>A (p.Val1120=)
8g.60853250G>CCA461105104CHD7c.6525G>C (p.Val2175=)
c.1717-8979G>C (n.1717-8979G>C)
c.6615G>C (p.Val2205=)
c.4602G>C (p.Val1534=)
c.4152G>C (p.Val1384=)
c.3360G>C (p.Val1120=)
8g.60853250G>TCA461105103CHD7c.6525G>T (p.Val2175=)
c.1717-8979G>T (n.1717-8979G>T)
c.6615G>T (p.Val2205=)
c.4602G>T (p.Val1534=)
c.4152G>T (p.Val1384=)
c.3360G>T (p.Val1120=)
8g.60853251delCA277453CHD7c.6526del (p.Glu2176ArgfsTer?)
c.1717-8978del (n.1717-8978del)
c.6616del (p.Glu2206ArgfsTer?)
c.4603del (p.Glu1535ArgfsTer?)
c.4153del (p.Glu1385ArgfsTer?)
c.3361del (p.Glu1121ArgfsTer?)
 ClinVar dbSNP
8g.60853251G>ACA371325598CHD7c.6526G>A (p.Glu2176Lys)
c.1717-8978G>A (n.1717-8978G>A)
c.6616G>A (p.Glu2206Lys)
c.4603G>A (p.Glu1535Lys)
c.4153G>A (p.Glu1385Lys)
c.3361G>A (p.Glu1121Lys)
 dbSNP gnomAD v2
8g.60853251G>CCA371325597CHD7c.6526G>C (p.Glu2176Gln)
c.1717-8978G>C (n.1717-8978G>C)
c.6616G>C (p.Glu2206Gln)
c.4603G>C (p.Glu1535Gln)
c.4153G>C (p.Glu1385Gln)
c.3361G>C (p.Glu1121Gln)
8g.60853251G=CA1788104322CHD7c.6526G= (p.Glu2176=)
c.1717-8978G= (n.1717-8978G=)
c.6616G= (p.Glu2206=)
c.4603G= (p.Glu1535=)
c.4153G= (p.Glu1385=)
c.3361G= (p.Glu1121=)
8g.60853251G>TCA371325601CHD7c.6526G>T (p.Glu2176Ter)
c.1717-8978G>T (n.1717-8978G>T)
c.6616G>T (p.Glu2206Ter)
c.4603G>T (p.Glu1535Ter)
c.4153G>T (p.Glu1385Ter)
c.3361G>T (p.Glu1121Ter)
8g.60853252A>CCA371325602CHD7c.6527A>C (p.Glu2176Ala)
c.1717-8977A>C (n.1717-8977A>C)
c.6617A>C (p.Glu2206Ala)
c.4604A>C (p.Glu1535Ala)
c.4154A>C (p.Glu1385Ala)
c.3362A>C (p.Glu1121Ala)
8g.60853252A>GCA371325604CHD7c.6527A>G (p.Glu2176Gly)
c.1717-8977A>G (n.1717-8977A>G)
c.6617A>G (p.Glu2206Gly)
c.4604A>G (p.Glu1535Gly)
c.4154A>G (p.Glu1385Gly)
c.3362A>G (p.Glu1121Gly)
 gnomAD v4
8g.60853252A>TCA371325606CHD7c.6527A>T (p.Glu2176Val)
c.1717-8977A>T (n.1717-8977A>T)
c.6617A>T (p.Glu2206Val)
c.4604A>T (p.Glu1535Val)
c.4154A>T (p.Glu1385Val)
c.3362A>T (p.Glu1121Val)
8g.60853253G>ACA461105109CHD7c.6528G>A (p.Glu2176=)
c.1717-8976G>A (n.1717-8976G>A)
c.6618G>A (p.Glu2206=)
c.4605G>A (p.Glu1535=)
c.4155G>A (p.Glu1385=)
c.3363G>A (p.Glu1121=)
8g.60853253G>CCA371325607CHD7c.6528G>C (p.Glu2176Asp)
c.1717-8976G>C (n.1717-8976G>C)
c.6618G>C (p.Glu2206Asp)
c.4605G>C (p.Glu1535Asp)
c.4155G>C (p.Glu1385Asp)
c.3363G>C (p.Glu1121Asp)
8g.60853253G>TCA371325609CHD7c.6528G>T (p.Glu2176Asp)
c.1717-8976G>T (n.1717-8976G>T)
c.6618G>T (p.Glu2206Asp)
c.4605G>T (p.Glu1535Asp)
c.4155G>T (p.Glu1385Asp)
c.3363G>T (p.Glu1121Asp)
8g.60853254G>ACA4760604CHD7c.6529G>A (p.Glu2177Lys)
c.1717-8975G>A (n.1717-8975G>A)
c.6619G>A (p.Glu2207Lys)
c.4606G>A (p.Glu1536Lys)
c.4156G>A (p.Glu1386Lys)
c.3364G>A (p.Glu1122Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.60853254G>CCA371325613CHD7c.6529G>C (p.Glu2177Gln)
c.1717-8975G>C (n.1717-8975G>C)
c.6619G>C (p.Glu2207Gln)
c.4606G>C (p.Glu1536Gln)
c.4156G>C (p.Glu1386Gln)
c.3364G>C (p.Glu1122Gln)
8g.60853254G=CA1788104332CHD7c.6529G= (p.Glu2177=)
c.1717-8975G= (n.1717-8975G=)
c.6619G= (p.Glu2207=)
c.4606G= (p.Glu1536=)
c.4156G= (p.Glu1386=)
c.3364G= (p.Glu1122=)
8g.60853254G>TCA275208CHD7c.6529G>T (p.Glu2177Ter)
c.1717-8975G>T (n.1717-8975G>T)
c.6619G>T (p.Glu2207Ter)
c.4606G>T (p.Glu1536Ter)
c.4156G>T (p.Glu1386Ter)
c.3364G>T (p.Glu1122Ter)
 ClinVar dbSNP
8g.60853255A>CCA371325617CHD7c.6530A>C (p.Glu2177Ala)
c.1717-8974A>C (n.1717-8974A>C)
c.6620A>C (p.Glu2207Ala)
c.4607A>C (p.Glu1536Ala)
c.4157A>C (p.Glu1386Ala)
c.3365A>C (p.Glu1122Ala)
8g.60853255A>GCA371325619CHD7c.6530A>G (p.Glu2177Gly)
c.1717-8974A>G (n.1717-8974A>G)
c.6620A>G (p.Glu2207Gly)
c.4607A>G (p.Glu1536Gly)
c.4157A>G (p.Glu1386Gly)
c.3365A>G (p.Glu1122Gly)
8g.60853255A>TCA371325620CHD7c.6530A>T (p.Glu2177Val)
c.1717-8974A>T (n.1717-8974A>T)
c.6620A>T (p.Glu2207Val)
c.4607A>T (p.Glu1536Val)
c.4157A>T (p.Glu1386Val)
c.3365A>T (p.Glu1122Val)
8g.60853256G>ACA461105111CHD7c.6531G>A (p.Glu2177=)
c.1717-8973G>A (n.1717-8973G>A)
c.6621G>A (p.Glu2207=)
c.4608G>A (p.Glu1536=)
c.4158G>A (p.Glu1386=)
c.3366G>A (p.Glu1122=)
 ClinVar
8g.60853256G>CCA371325621CHD7c.6531G>C (p.Glu2177Asp)
c.1717-8973G>C (n.1717-8973G>C)
c.6621G>C (p.Glu2207Asp)
c.4608G>C (p.Glu1536Asp)
c.4158G>C (p.Glu1386Asp)
c.3366G>C (p.Glu1122Asp)
 gnomAD v4
8g.60853256G>TCA371325622CHD7c.6531G>T (p.Glu2177Asp)
c.1717-8973G>T (n.1717-8973G>T)
c.6621G>T (p.Glu2207Asp)
c.4608G>T (p.Glu1536Asp)
c.4158G>T (p.Glu1386Asp)
c.3366G>T (p.Glu1122Asp)
8g.60853256dupCA2573143274CHD7c.6531dup (p.Pro2178AlafsTer2)
c.1717-8973dup (n.1717-8973dup)
c.6621dup (p.Pro2208AlafsTer2)
c.4608dup (p.Pro1537AlafsTer2)
c.4158dup (p.Pro1387AlafsTer2)
c.3366dup (p.Pro1123AlafsTer2)
 ClinVar dbSNP
8g.60853257C>ACA371325625CHD7c.6532C>A (p.Pro2178Thr)
c.1717-8972C>A (n.1717-8972C>A)
c.6622C>A (p.Pro2208Thr)
c.4609C>A (p.Pro1537Thr)
c.4159C>A (p.Pro1387Thr)
c.3367C>A (p.Pro1123Thr)
8g.60853257C>GCA371325627CHD7c.6532C>G (p.Pro2178Ala)
c.1717-8972C>G (n.1717-8972C>G)
c.6622C>G (p.Pro2208Ala)
c.4609C>G (p.Pro1537Ala)
c.4159C>G (p.Pro1387Ala)
c.3367C>G (p.Pro1123Ala)
8g.60853257C>TCA371325626CHD7c.6532C>T (p.Pro2178Ser)
c.1717-8972C>T (n.1717-8972C>T)
c.6622C>T (p.Pro2208Ser)
c.4609C>T (p.Pro1537Ser)
c.4159C>T (p.Pro1387Ser)
c.3367C>T (p.Pro1123Ser)
 dbSNP
8g.60853258C>ACA371325629CHD7c.6533C>A (p.Pro2178His)
c.1717-8971C>A (n.1717-8971C>A)
c.6623C>A (p.Pro2208His)
c.4610C>A (p.Pro1537His)
c.4160C>A (p.Pro1387His)
c.3368C>A (p.Pro1123His)
8g.60853258C=CA1788104342CHD7c.6533C= (p.Pro2178=)
c.1717-8971C= (n.1717-8971C=)
c.6623C= (p.Pro2208=)
c.4610C= (p.Pro1537=)
c.4160C= (p.Pro1387=)
c.3368C= (p.Pro1123=)
8g.60853258C>GCA371325630CHD7c.6533C>G (p.Pro2178Arg)
c.1717-8971C>G (n.1717-8971C>G)
c.6623C>G (p.Pro2208Arg)
c.4610C>G (p.Pro1537Arg)
c.4160C>G (p.Pro1387Arg)
c.3368C>G (p.Pro1123Arg)
 dbSNP gnomAD v2 gnomAD v4
8g.60853258C>TCA371325631CHD7c.6533C>T (p.Pro2178Leu)
c.1717-8971C>T (n.1717-8971C>T)
c.6623C>T (p.Pro2208Leu)
c.4610C>T (p.Pro1537Leu)
c.4160C>T (p.Pro1387Leu)
c.3368C>T (p.Pro1123Leu)
8g.60853259T>ACA461105114CHD7c.6534T>A (p.Pro2178=)
c.1717-8970T>A (n.1717-8970T>A)
c.6624T>A (p.Pro2208=)
c.4611T>A (p.Pro1537=)
c.4161T>A (p.Pro1387=)
c.3369T>A (p.Pro1123=)
8g.60853259T>CCA177354148CHD7c.6534T>C (p.Pro2178=)
c.1717-8970T>C (n.1717-8970T>C)
c.6624T>C (p.Pro2208=)
c.4611T>C (p.Pro1537=)
c.4161T>C (p.Pro1387=)
c.3369T>C (p.Pro1123=)
 dbSNP gnomAD v4
8g.60853259T>GCA461105116CHD7c.6534T>G (p.Pro2178=)
c.1717-8970T>G (n.1717-8970T>G)
c.6624T>G (p.Pro2208=)
c.4611T>G (p.Pro1537=)
c.4161T>G (p.Pro1387=)
c.3369T>G (p.Pro1123=)
8g.60853259T=CA1788104348CHD7c.6534T= (p.Pro2178=)
c.1717-8970T= (n.1717-8970T=)
c.6624T= (p.Pro2208=)
c.4611T= (p.Pro1537=)
c.4161T= (p.Pro1387=)
c.3369T= (p.Pro1123=)
8g.60853260G>ACA371325634CHD7c.6535G>A (p.Glu2179Lys)
c.1717-8969G>A (n.1717-8969G>A)
c.6625G>A (p.Glu2209Lys)
c.4612G>A (p.Glu1538Lys)
c.4162G>A (p.Glu1388Lys)
c.3370G>A (p.Glu1124Lys)
8g.60853260G>CCA371325635CHD7c.6535G>C (p.Glu2179Gln)
c.1717-8969G>C (n.1717-8969G>C)
c.6625G>C (p.Glu2209Gln)
c.4612G>C (p.Glu1538Gln)
c.4162G>C (p.Glu1388Gln)
c.3370G>C (p.Glu1124Gln)
8g.60853260G>TCA371325636CHD7c.6535G>T (p.Glu2179Ter)
c.1717-8969G>T (n.1717-8969G>T)
c.6625G>T (p.Glu2209Ter)
c.4612G>T (p.Glu1538Ter)
c.4162G>T (p.Glu1388Ter)
c.3370G>T (p.Glu1124Ter)
8g.60853261A=CA1788104357CHD7c.6536A= (p.Glu2179=)
c.1717-8968A= (n.1717-8968A=)
c.6626A= (p.Glu2209=)
c.4613A= (p.Glu1538=)
c.4163A= (p.Glu1388=)
c.3371A= (p.Glu1124=)
8g.60853261A>CCA371325638CHD7c.6536A>C (p.Glu2179Ala)
c.1717-8968A>C (n.1717-8968A>C)
c.6626A>C (p.Glu2209Ala)
c.4613A>C (p.Glu1538Ala)
c.4163A>C (p.Glu1388Ala)
c.3371A>C (p.Glu1124Ala)
8g.60853261A>GCA371325639CHD7c.6536A>G (p.Glu2179Gly)
c.1717-8968A>G (n.1717-8968A>G)
c.6626A>G (p.Glu2209Gly)
c.4613A>G (p.Glu1538Gly)
c.4163A>G (p.Glu1388Gly)
c.3371A>G (p.Glu1124Gly)
 ClinVar dbSNP
8g.60853261A>TCA371325640CHD7c.6536A>T (p.Glu2179Val)
c.1717-8968A>T (n.1717-8968A>T)
c.6626A>T (p.Glu2209Val)
c.4613A>T (p.Glu1538Val)
c.4163A>T (p.Glu1388Val)
c.3371A>T (p.Glu1124Val)
8g.60853262A>CCA371325641CHD7c.6537A>C (p.Glu2179Asp)
c.1717-8967A>C (n.1717-8967A>C)
c.6627A>C (p.Glu2209Asp)
c.4614A>C (p.Glu1538Asp)
c.4164A>C (p.Glu1388Asp)
c.3372A>C (p.Glu1124Asp)
8g.60853262A>GCA461105122CHD7c.6537A>G (p.Glu2179=)
c.1717-8967A>G (n.1717-8967A>G)
c.6627A>G (p.Glu2209=)
c.4614A>G (p.Glu1538=)
c.4164A>G (p.Glu1388=)
c.3372A>G (p.Glu1124=)
8g.60853262A>TCA371325642CHD7c.6537A>T (p.Glu2179Asp)
c.1717-8967A>T (n.1717-8967A>T)
c.6627A>T (p.Glu2209Asp)
c.4614A>T (p.Glu1538Asp)
c.4164A>T (p.Glu1388Asp)
c.3372A>T (p.Glu1124Asp)
8g.60853263A>CCA371325645CHD7c.6538A>C (p.Asn2180His)
c.1717-8966A>C (n.1717-8966A>C)
c.6628A>C (p.Asn2210His)
c.4615A>C (p.Asn1539His)
c.4165A>C (p.Asn1389His)
c.3373A>C (p.Asn1125His)
8g.60853263A>GCA371325646CHD7c.6538A>G (p.Asn2180Asp)
c.1717-8966A>G (n.1717-8966A>G)
c.6628A>G (p.Asn2210Asp)
c.4615A>G (p.Asn1539Asp)
c.4165A>G (p.Asn1389Asp)
c.3373A>G (p.Asn1125Asp)
8g.60853263A>TCA371325643CHD7c.6538A>T (p.Asn2180Tyr)
c.1717-8966A>T (n.1717-8966A>T)
c.6628A>T (p.Asn2210Tyr)
c.4615A>T (p.Asn1539Tyr)
c.4165A>T (p.Asn1389Tyr)
c.3373A>T (p.Asn1125Tyr)
8g.60853264A=CA1788104367CHD7c.6539A= (p.Asn2180=)
c.1717-8965A= (n.1717-8965A=)
c.6629A= (p.Asn2210=)
c.4616A= (p.Asn1539=)
c.4166A= (p.Asn1389=)
c.3374A= (p.Asn1125=)
8g.60853264A>CCA371325650CHD7c.6539A>C (p.Asn2180Thr)
c.1717-8965A>C (n.1717-8965A>C)
c.6629A>C (p.Asn2210Thr)
c.4616A>C (p.Asn1539Thr)
c.4166A>C (p.Asn1389Thr)
c.3374A>C (p.Asn1125Thr)
 dbSNP
8g.60853264A>GCA371325648CHD7c.6539A>G (p.Asn2180Ser)
c.1717-8965A>G (n.1717-8965A>G)
c.6629A>G (p.Asn2210Ser)
c.4616A>G (p.Asn1539Ser)
c.4166A>G (p.Asn1389Ser)
c.3374A>G (p.Asn1125Ser)
 gnomAD v4
8g.60853264A>TCA371325652CHD7c.6539A>T (p.Asn2180Ile)
c.1717-8965A>T (n.1717-8965A>T)
c.6629A>T (p.Asn2210Ile)
c.4616A>T (p.Asn1539Ile)
c.4166A>T (p.Asn1389Ile)
c.3374A>T (p.Asn1125Ile)
8g.60853265C>ACA371325653CHD7c.6540C>A (p.Asn2180Lys)
c.1717-8964C>A (n.1717-8964C>A)
c.6630C>A (p.Asn2210Lys)
c.4617C>A (p.Asn1539Lys)
c.4167C>A (p.Asn1389Lys)
c.3375C>A (p.Asn1125Lys)
8g.60853265C>GCA371325655CHD7c.6540C>G (p.Asn2180Lys)
c.1717-8964C>G (n.1717-8964C>G)
c.6630C>G (p.Asn2210Lys)
c.4617C>G (p.Asn1539Lys)
c.4167C>G (p.Asn1389Lys)
c.3375C>G (p.Asn1125Lys)
8g.60853265C>TCA461105125CHD7c.6540C>T (p.Asn2180=)
c.1717-8964C>T (n.1717-8964C>T)
c.6630C>T (p.Asn2210=)
c.4617C>T (p.Asn1539=)
c.4167C>T (p.Asn1389=)
c.3375C>T (p.Asn1125=)
8g.60853266C>ACA371325657CHD7c.6541C>A (p.Pro2181Thr)
c.1717-8963C>A (n.1717-8963C>A)
c.6631C>A (p.Pro2211Thr)
c.4618C>A (p.Pro1540Thr)
c.4168C>A (p.Pro1390Thr)
c.3376C>A (p.Pro1126Thr)
8g.60853266C=CA1788104389CHD7c.6541C= (p.Pro2181=)
c.1717-8963C= (n.1717-8963C=)
c.6631C= (p.Pro2211=)
c.4618C= (p.Pro1540=)
c.4168C= (p.Pro1390=)
c.3376C= (p.Pro1126=)
8g.60853266C>GCA371325659CHD7c.6541C>G (p.Pro2181Ala)
c.1717-8963C>G (n.1717-8963C>G)
c.6631C>G (p.Pro2211Ala)
c.4618C>G (p.Pro1540Ala)
c.4168C>G (p.Pro1390Ala)
c.3376C>G (p.Pro1126Ala)
8g.60853266C>TCA371325660CHD7c.6541C>T (p.Pro2181Ser)
c.1717-8963C>T (n.1717-8963C>T)
c.6631C>T (p.Pro2211Ser)
c.4618C>T (p.Pro1540Ser)
c.4168C>T (p.Pro1390Ser)
c.3376C>T (p.Pro1126Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.60853267C>ACA371325661CHD7c.6542C>A (p.Pro2181Gln)
c.1717-8962C>A (n.1717-8962C>A)
c.6632C>A (p.Pro2211Gln)
c.4619C>A (p.Pro1540Gln)
c.4169C>A (p.Pro1390Gln)
c.3377C>A (p.Pro1126Gln)
8g.60853267C>GCA371325662CHD7c.6542C>G (p.Pro2181Arg)
c.1717-8962C>G (n.1717-8962C>G)
c.6632C>G (p.Pro2211Arg)
c.4619C>G (p.Pro1540Arg)
c.4169C>G (p.Pro1390Arg)
c.3377C>G (p.Pro1126Arg)
8g.60853267C>TCA371325664CHD7c.6542C>T (p.Pro2181Leu)
c.1717-8962C>T (n.1717-8962C>T)
c.6632C>T (p.Pro2211Leu)
c.4619C>T (p.Pro1540Leu)
c.4169C>T (p.Pro1390Leu)
c.3377C>T (p.Pro1126Leu)
 gnomAD v4
8g.60853268A>CCA461105130CHD7c.6543A>C (p.Pro2181=)
c.1717-8961A>C (n.1717-8961A>C)
c.6633A>C (p.Pro2211=)
c.4620A>C (p.Pro1540=)
c.4170A>C (p.Pro1390=)
c.3378A>C (p.Pro1126=)
8g.60853268A>GCA461105131CHD7c.6543A>G (p.Pro2181=)
c.1717-8961A>G (n.1717-8961A>G)
c.6633A>G (p.Pro2211=)
c.4620A>G (p.Pro1540=)
c.4170A>G (p.Pro1390=)
c.3378A>G (p.Pro1126=)
8g.60853268A>TCA461105132CHD7c.6543A>T (p.Pro2181=)
c.1717-8961A>T (n.1717-8961A>T)
c.6633A>T (p.Pro2211=)
c.4620A>T (p.Pro1540=)
c.4170A>T (p.Pro1390=)
c.3378A>T (p.Pro1126=)
8g.60853269G>ACA371325667CHD7c.6544G>A (p.Ala2182Thr)
c.1717-8960G>A (n.1717-8960G>A)
c.6634G>A (p.Ala2212Thr)
c.4621G>A (p.Ala1541Thr)
c.4171G>A (p.Ala1391Thr)
c.3379G>A (p.Ala1127Thr)
8g.60853269G>CCA371325668CHD7c.6544G>C (p.Ala2182Pro)
c.1717-8960G>C (n.1717-8960G>C)
c.6634G>C (p.Ala2212Pro)
c.4621G>C (p.Ala1541Pro)
c.4171G>C (p.Ala1391Pro)
c.3379G>C (p.Ala1127Pro)
8g.60853269G>TCA371325669CHD7c.6544G>T (p.Ala2182Ser)
c.1717-8960G>T (n.1717-8960G>T)
c.6634G>T (p.Ala2212Ser)
c.4621G>T (p.Ala1541Ser)
c.4171G>T (p.Ala1391Ser)
c.3379G>T (p.Ala1127Ser)
8g.60853270C>ACA371325671CHD7c.6545C>A (p.Ala2182Asp)
c.1717-8959C>A (n.1717-8959C>A)
c.6635C>A (p.Ala2212Asp)
c.4622C>A (p.Ala1541Asp)
c.4172C>A (p.Ala1391Asp)
c.3380C>A (p.Ala1127Asp)
 dbSNP gnomAD v2
8g.60853270C=CA1788104390CHD7c.6545C= (p.Ala2182=)
c.1717-8959C= (n.1717-8959C=)
c.6635C= (p.Ala2212=)
c.4622C= (p.Ala1541=)
c.4172C= (p.Ala1391=)
c.3380C= (p.Ala1127=)
8g.60853270C>GCA371325673CHD7c.6545C>G (p.Ala2182Gly)
c.1717-8959C>G (n.1717-8959C>G)
c.6635C>G (p.Ala2212Gly)
c.4622C>G (p.Ala1541Gly)
c.4172C>G (p.Ala1391Gly)
c.3380C>G (p.Ala1127Gly)
 gnomAD v4
8g.60853270C>TCA371325674CHD7c.6545C>T (p.Ala2182Val)
c.1717-8959C>T (n.1717-8959C>T)
c.6635C>T (p.Ala2212Val)
c.4622C>T (p.Ala1541Val)
c.4172C>T (p.Ala1391Val)
c.3380C>T (p.Ala1127Val)
8g.60853271T>ACA461105136CHD7c.6546T>A (p.Ala2182=)
c.1717-8958T>A (n.1717-8958T>A)
c.6636T>A (p.Ala2212=)
c.4623T>A (p.Ala1541=)
c.4173T>A (p.Ala1391=)
c.3381T>A (p.Ala1127=)
8g.60853271T>CCA461105137CHD7c.6546T>C (p.Ala2182=)
c.1717-8958T>C (n.1717-8958T>C)
c.6636T>C (p.Ala2212=)
c.4623T>C (p.Ala1541=)
c.4173T>C (p.Ala1391=)
c.3381T>C (p.Ala1127=)
8g.60853271T>GCA461105138CHD7c.6546T>G (p.Ala2182=)
c.1717-8958T>G (n.1717-8958T>G)
c.6636T>G (p.Ala2212=)
c.4623T>G (p.Ala1541=)
c.4173T>G (p.Ala1391=)
c.3381T>G (p.Ala1127=)
8g.60853272G>ACA371325679CHD7c.6547G>A (p.Ala2183Thr)
c.1717-8957G>A (n.1717-8957G>A)
c.6637G>A (p.Ala2213Thr)
c.4624G>A (p.Ala1542Thr)
c.4174G>A (p.Ala1392Thr)
c.3382G>A (p.Ala1128Thr)
 gnomAD v4
8g.60853272G>CCA371325676CHD7c.6547G>C (p.Ala2183Pro)
c.1717-8957G>C (n.1717-8957G>C)
c.6637G>C (p.Ala2213Pro)
c.4624G>C (p.Ala1542Pro)
c.4174G>C (p.Ala1392Pro)
c.3382G>C (p.Ala1128Pro)
8g.60853272G>TCA371325677CHD7c.6547G>T (p.Ala2183Ser)
c.1717-8957G>T (n.1717-8957G>T)
c.6637G>T (p.Ala2213Ser)
c.4624G>T (p.Ala1542Ser)
c.4174G>T (p.Ala1392Ser)
c.3382G>T (p.Ala1128Ser)
8g.60853273C>ACA371325683CHD7c.6548C>A (p.Ala2183Asp)
c.1717-8956C>A (n.1717-8956C>A)
c.6638C>A (p.Ala2213Asp)
c.4625C>A (p.Ala1542Asp)
c.4175C>A (p.Ala1392Asp)
c.3383C>A (p.Ala1128Asp)
8g.60853273C=CA1788104395CHD7c.6548C= (p.Ala2183=)
c.1717-8956C= (n.1717-8956C=)
c.6638C= (p.Ala2213=)
c.4625C= (p.Ala1542=)
c.4175C= (p.Ala1392=)
c.3383C= (p.Ala1128=)
8g.60853273C>GCA371325685CHD7c.6548C>G (p.Ala2183Gly)
c.1717-8956C>G (n.1717-8956C>G)
c.6638C>G (p.Ala2213Gly)
c.4625C>G (p.Ala1542Gly)
c.4175C>G (p.Ala1392Gly)
c.3383C>G (p.Ala1128Gly)
8g.60853273C>TCA4760605CHD7c.6548C>T (p.Ala2183Val)
c.1717-8956C>T (n.1717-8956C>T)
c.6638C>T (p.Ala2213Val)
c.4625C>T (p.Ala1542Val)
c.4175C>T (p.Ala1392Val)
c.3383C>T (p.Ala1128Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60853274C>ACA461105140CHD7c.6549C>A (p.Ala2183=)
c.1717-8955C>A (n.1717-8955C>A)
c.6639C>A (p.Ala2213=)
c.4626C>A (p.Ala1542=)
c.4176C>A (p.Ala1392=)
c.3384C>A (p.Ala1128=)
 dbSNP gnomAD v2
8g.60853274C=CA1788104403CHD7c.6549C= (p.Ala2183=)
c.1717-8955C= (n.1717-8955C=)
c.6639C= (p.Ala2213=)
c.4626C= (p.Ala1542=)
c.4176C= (p.Ala1392=)
c.3384C= (p.Ala1128=)
8g.60853274C>GCA461105142CHD7c.6549C>G (p.Ala2183=)
c.1717-8955C>G (n.1717-8955C>G)
c.6639C>G (p.Ala2213=)
c.4626C>G (p.Ala1542=)
c.4176C>G (p.Ala1392=)
c.3384C>G (p.Ala1128=)
8g.60853274C>TCA461105143CHD7c.6549C>T (p.Ala2183=)
c.1717-8955C>T (n.1717-8955C>T)
c.6639C>T (p.Ala2213=)
c.4626C>T (p.Ala1542=)
c.4176C>T (p.Ala1392=)
c.3384C>T (p.Ala1128=)
 gnomAD v4
8g.60853275A>CCA371325687CHD7c.6550A>C (p.Lys2184Gln)
c.1717-8954A>C (n.1717-8954A>C)
c.6640A>C (p.Lys2214Gln)
c.4627A>C (p.Lys1543Gln)
c.4177A>C (p.Lys1393Gln)
c.3385A>C (p.Lys1129Gln)
8g.60853275A>GCA371325688CHD7c.6550A>G (p.Lys2184Glu)
c.1717-8954A>G (n.1717-8954A>G)
c.6640A>G (p.Lys2214Glu)
c.4627A>G (p.Lys1543Glu)
c.4177A>G (p.Lys1393Glu)
c.3385A>G (p.Lys1129Glu)
 dbSNP gnomAD v3 gnomAD v4
8g.60853275A>TCA371325690CHD7c.6550A>T (p.Lys2184Ter)
c.1717-8954A>T (n.1717-8954A>T)
c.6640A>T (p.Lys2214Ter)
c.4627A>T (p.Lys1543Ter)
c.4177A>T (p.Lys1393Ter)
c.3385A>T (p.Lys1129Ter)
8g.60853276A=CA1788104408CHD7c.6551A= (p.Lys2184=)
c.1717-8953A= (n.1717-8953A=)
c.6641A= (p.Lys2214=)
c.4628A= (p.Lys1543=)
c.4178A= (p.Lys1393=)
c.3386A= (p.Lys1129=)
8g.60853276A>CCA371325692CHD7c.6551A>C (p.Lys2184Thr)
c.1717-8953A>C (n.1717-8953A>C)
c.6641A>C (p.Lys2214Thr)
c.4628A>C (p.Lys1543Thr)
c.4178A>C (p.Lys1393Thr)
c.3386A>C (p.Lys1129Thr)
8g.60853276A>GCA371325693CHD7c.6551A>G (p.Lys2184Arg)
c.1717-8953A>G (n.1717-8953A>G)
c.6641A>G (p.Lys2214Arg)
c.4628A>G (p.Lys1543Arg)
c.4178A>G (p.Lys1393Arg)
c.3386A>G (p.Lys1129Arg)
8g.60853276A>TCA177354151CHD7c.6551A>T (p.Lys2184Met)
c.1717-8953A>T (n.1717-8953A>T)
c.6641A>T (p.Lys2214Met)
c.4628A>T (p.Lys1543Met)
c.4178A>T (p.Lys1393Met)
c.3386A>T (p.Lys1129Met)
 ClinVar dbSNP gnomAD v4
8g.60853277G>ACA461105147CHD7c.6552G>A (p.Lys2184=)
c.1717-8952G>A (n.1717-8952G>A)
c.6642G>A (p.Lys2214=)
c.4629G>A (p.Lys1543=)
c.4179G>A (p.Lys1393=)
c.3387G>A (p.Lys1129=)
 dbSNP
8g.60853277G>CCA371325694CHD7c.6552G>C (p.Lys2184Asn)
c.1717-8952G>C (n.1717-8952G>C)
c.6642G>C (p.Lys2214Asn)
c.4629G>C (p.Lys1543Asn)
c.4179G>C (p.Lys1393Asn)
c.3387G>C (p.Lys1129Asn)
8g.60853277G=CA1788104413CHD7c.6552G= (p.Lys2184=)
c.1717-8952G= (n.1717-8952G=)
c.6642G= (p.Lys2214=)
c.4629G= (p.Lys1543=)
c.4179G= (p.Lys1393=)
c.3387G= (p.Lys1129=)
8g.60853277G>TCA371325696CHD7c.6552G>T (p.Lys2184Asn)
c.1717-8952G>T (n.1717-8952G>T)
c.6642G>T (p.Lys2214Asn)
c.4629G>T (p.Lys1543Asn)
c.4179G>T (p.Lys1393Asn)
c.3387G>T (p.Lys1129Asn)
8g.60853278G>ACA371325700CHD7c.6553G>A (p.Glu2185Lys)
c.1717-8951G>A (n.1717-8951G>A)
c.6643G>A (p.Glu2215Lys)
c.4630G>A (p.Glu1544Lys)
c.4180G>A (p.Glu1394Lys)
c.3388G>A (p.Glu1130Lys)
 gnomAD v4
8g.60853278G>CCA371325698CHD7c.6553G>C (p.Glu2185Gln)
c.1717-8951G>C (n.1717-8951G>C)
c.6643G>C (p.Glu2215Gln)
c.4630G>C (p.Glu1544Gln)
c.4180G>C (p.Glu1394Gln)
c.3388G>C (p.Glu1130Gln)
8g.60853278G=CA1788104418CHD7c.6553G= (p.Glu2185=)
c.1717-8951G= (n.1717-8951G=)
c.6643G= (p.Glu2215=)
c.4630G= (p.Glu1544=)
c.4180G= (p.Glu1394=)
c.3388G= (p.Glu1130=)
8g.60853278G>TCA4760606CHD7c.6553G>T (p.Glu2185Ter)
c.1717-8951G>T (n.1717-8951G>T)
c.6643G>T (p.Glu2215Ter)
c.4630G>T (p.Glu1544Ter)
c.4180G>T (p.Glu1394Ter)
c.3388G>T (p.Glu1130Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853278_60853279delinsTTCA2573053032CHD7c.6553_6554delinsTT (p.Glu2185Leu)
c.1717-8951_1717-8950delinsTT (n.1717-8951_1717-8950delinsTT)
c.6643_6644delinsTT (p.Glu2215Leu)
c.4630_4631delinsTT (p.Glu1544Leu)
c.4180_4181delinsTT (p.Glu1394Leu)
c.3388_3389delinsTT (p.Glu1130Leu)
 ClinVar dbSNP
8g.60853279A=CA1788104425CHD7c.6554A= (p.Glu2185=)
c.1717-8950A= (n.1717-8950A=)
c.6644A= (p.Glu2215=)
c.4631A= (p.Glu1544=)
c.4181A= (p.Glu1394=)
c.3389A= (p.Glu1130=)
8g.60853279A>CCA371325702CHD7c.6554A>C (p.Glu2185Ala)
c.1717-8950A>C (n.1717-8950A>C)
c.6644A>C (p.Glu2215Ala)
c.4631A>C (p.Glu1544Ala)
c.4181A>C (p.Glu1394Ala)
c.3389A>C (p.Glu1130Ala)
8g.60853279A>GCA371325704CHD7c.6554A>G (p.Glu2185Gly)
c.1717-8950A>G (n.1717-8950A>G)
c.6644A>G (p.Glu2215Gly)
c.4631A>G (p.Glu1544Gly)
c.4181A>G (p.Glu1394Gly)
c.3389A>G (p.Glu1130Gly)
8g.60853279A>TCA4760607CHD7c.6554A>T (p.Glu2185Val)
c.1717-8950A>T (n.1717-8950A>T)
c.6644A>T (p.Glu2215Val)
c.4631A>T (p.Glu1544Val)
c.4181A>T (p.Glu1394Val)
c.3389A>T (p.Glu1130Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853280G>ACA461105151CHD7c.6555G>A (p.Glu2185=)
c.1717-8949G>A (n.1717-8949G>A)
c.6645G>A (p.Glu2215=)
c.4632G>A (p.Glu1544=)
c.4182G>A (p.Glu1394=)
c.3390G>A (p.Glu1130=)
 dbSNP gnomAD v2 gnomAD v4
8g.60853280G>CCA371325707CHD7c.6555G>C (p.Glu2185Asp)
c.1717-8949G>C (n.1717-8949G>C)
c.6645G>C (p.Glu2215Asp)
c.4632G>C (p.Glu1544Asp)
c.4182G>C (p.Glu1394Asp)
c.3390G>C (p.Glu1130Asp)
8g.60853280G=CA1788104432CHD7c.6555G= (p.Glu2185=)
c.1717-8949G= (n.1717-8949G=)
c.6645G= (p.Glu2215=)
c.4632G= (p.Glu1544=)
c.4182G= (p.Glu1394=)
c.3390G= (p.Glu1130=)
8g.60853280G>TCA371325708CHD7c.6555G>T (p.Glu2185Asp)
c.1717-8949G>T (n.1717-8949G>T)
c.6645G>T (p.Glu2215Asp)
c.4632G>T (p.Glu1544Asp)
c.4182G>T (p.Glu1394Asp)
c.3390G>T (p.Glu1130Asp)
8g.60853281A>CCA371325709CHD7c.6556A>C (p.Lys2186Gln)
c.1717-8948A>C (n.1717-8948A>C)
c.6646A>C (p.Lys2216Gln)
c.4633A>C (p.Lys1545Gln)
c.4183A>C (p.Lys1395Gln)
c.3391A>C (p.Lys1131Gln)
8g.60853281A>GCA371325711CHD7c.6556A>G (p.Lys2186Glu)
c.1717-8948A>G (n.1717-8948A>G)
c.6646A>G (p.Lys2216Glu)
c.4633A>G (p.Lys1545Glu)
c.4183A>G (p.Lys1395Glu)
c.3391A>G (p.Lys1131Glu)
8g.60853281A>TCA371325712CHD7c.6556A>T (p.Lys2186Ter)
c.1717-8948A>T (n.1717-8948A>T)
c.6646A>T (p.Lys2216Ter)
c.4633A>T (p.Lys1545Ter)
c.4183A>T (p.Lys1395Ter)
c.3391A>T (p.Lys1131Ter)
8g.60853282A=CA1788104436CHD7c.6557A= (p.Lys2186=)
c.1717-8947A= (n.1717-8947A=)
c.6647A= (p.Lys2216=)
c.4634A= (p.Lys1545=)
c.4184A= (p.Lys1395=)
c.3392A= (p.Lys1131=)
8g.60853282A>CCA371325714CHD7c.6557A>C (p.Lys2186Thr)
c.1717-8947A>C (n.1717-8947A>C)
c.6647A>C (p.Lys2216Thr)
c.4634A>C (p.Lys1545Thr)
c.4184A>C (p.Lys1395Thr)
c.3392A>C (p.Lys1131Thr)
8g.60853282A>GCA371325716CHD7c.6557A>G (p.Lys2186Arg)
c.1717-8947A>G (n.1717-8947A>G)
c.6647A>G (p.Lys2216Arg)
c.4634A>G (p.Lys1545Arg)
c.4184A>G (p.Lys1395Arg)
c.3392A>G (p.Lys1131Arg)
8g.60853282A>TCA4760608CHD7c.6557A>T (p.Lys2186Ile)
c.1717-8947A>T (n.1717-8947A>T)
c.6647A>T (p.Lys2216Ile)
c.4634A>T (p.Lys1545Ile)
c.4184A>T (p.Lys1395Ile)
c.3392A>T (p.Lys1131Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.60853283A>CCA371325718CHD7c.6558A>C (p.Lys2186Asn)
c.1717-8946A>C (n.1717-8946A>C)
c.6648A>C (p.Lys2216Asn)
c.4635A>C (p.Lys1545Asn)
c.4185A>C (p.Lys1395Asn)
c.3393A>C (p.Lys1131Asn)
8g.60853283A>GCA461105154CHD7c.6558A>G (p.Lys2186=)
c.1717-8946A>G (n.1717-8946A>G)
c.6648A>G (p.Lys2216=)
c.4635A>G (p.Lys1545=)
c.4185A>G (p.Lys1395=)
c.3393A>G (p.Lys1131=)
8g.60853283A>TCA371325719CHD7c.6558A>T (p.Lys2186Asn)
c.1717-8946A>T (n.1717-8946A>T)
c.6648A>T (p.Lys2216Asn)
c.4635A>T (p.Lys1545Asn)
c.4185A>T (p.Lys1395Asn)
c.3393A>T (p.Lys1131Asn)
8g.60853284T>ACA371325721CHD7c.6559T>A (p.Cys2187Ser)
c.1717-8945T>A (n.1717-8945T>A)
c.6649T>A (p.Cys2217Ser)
c.4636T>A (p.Cys1546Ser)
c.4186T>A (p.Cys1396Ser)
c.3394T>A (p.Cys1132Ser)
8g.60853284T>CCA371325723CHD7c.6559T>C (p.Cys2187Arg)
c.1717-8945T>C (n.1717-8945T>C)
c.6649T>C (p.Cys2217Arg)
c.4636T>C (p.Cys1546Arg)
c.4186T>C (p.Cys1396Arg)
c.3394T>C (p.Cys1132Arg)
 gnomAD v4
8g.60853284T>GCA371325722CHD7c.6559T>G (p.Cys2187Gly)
c.1717-8945T>G (n.1717-8945T>G)
c.6649T>G (p.Cys2217Gly)
c.4636T>G (p.Cys1546Gly)
c.4186T>G (p.Cys1396Gly)
c.3394T>G (p.Cys1132Gly)
 dbSNP gnomAD v2 gnomAD v4
8g.60853284T=CA1788104438CHD7c.6559T= (p.Cys2187=)
c.1717-8945T= (n.1717-8945T=)
c.6649T= (p.Cys2217=)
c.4636T= (p.Cys1546=)
c.4186T= (p.Cys1396=)
c.3394T= (p.Cys1132=)
8g.60853285G>ACA371325724CHD7c.6560G>A (p.Cys2187Tyr)
c.1717-8944G>A (n.1717-8944G>A)
c.6650G>A (p.Cys2217Tyr)
c.4637G>A (p.Cys1546Tyr)
c.4187G>A (p.Cys1396Tyr)
c.3395G>A (p.Cys1132Tyr)
 dbSNP gnomAD v4
8g.60853285G>CCA371325725CHD7c.6560G>C (p.Cys2187Ser)
c.1717-8944G>C (n.1717-8944G>C)
c.6650G>C (p.Cys2217Ser)
c.4637G>C (p.Cys1546Ser)
c.4187G>C (p.Cys1396Ser)
c.3395G>C (p.Cys1132Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.60853285G=CA1788104443CHD7c.6560G= (p.Cys2187=)
c.1717-8944G= (n.1717-8944G=)
c.6650G= (p.Cys2217=)
c.4637G= (p.Cys1546=)
c.4187G= (p.Cys1396=)
c.3395G= (p.Cys1132=)
8g.60853285G>TCA371325727CHD7c.6560G>T (p.Cys2187Phe)
c.1717-8944G>T (n.1717-8944G>T)
c.6650G>T (p.Cys2217Phe)
c.4637G>T (p.Cys1546Phe)
c.4187G>T (p.Cys1396Phe)
c.3395G>T (p.Cys1132Phe)
8g.60853286T>ACA371325729CHD7c.6561T>A (p.Cys2187Ter)
c.1717-8943T>A (n.1717-8943T>A)
c.6651T>A (p.Cys2217Ter)
c.4638T>A (p.Cys1546Ter)
c.4188T>A (p.Cys1396Ter)
c.3396T>A (p.Cys1132Ter)
 ClinVar dbSNP
8g.60853286T>CCA461105159CHD7c.6561T>C (p.Cys2187=)
c.1717-8943T>C (n.1717-8943T>C)
c.6651T>C (p.Cys2217=)
c.4638T>C (p.Cys1546=)
c.4188T>C (p.Cys1396=)
c.3396T>C (p.Cys1132=)
8g.60853286T>GCA371325730CHD7c.6561T>G (p.Cys2187Trp)
c.1717-8943T>G (n.1717-8943T>G)
c.6651T>G (p.Cys2217Trp)
c.4638T>G (p.Cys1546Trp)
c.4188T>G (p.Cys1396Trp)
c.3396T>G (p.Cys1132Trp)
8g.60853286T=CA1788104447CHD7c.6561T= (p.Cys2187=)
c.1717-8943T= (n.1717-8943T=)
c.6651T= (p.Cys2217=)
c.4638T= (p.Cys1546=)
c.4188T= (p.Cys1396=)
c.3396T= (p.Cys1132=)
8g.60853287G>ACA371325732CHD7c.6562G>A (p.Glu2188Lys)
c.1717-8942G>A (n.1717-8942G>A)
c.6652G>A (p.Glu2218Lys)
c.4639G>A (p.Glu1547Lys)
c.4189G>A (p.Glu1397Lys)
c.3397G>A (p.Glu1133Lys)
8g.60853287G>CCA371325734CHD7c.6562G>C (p.Glu2188Gln)
c.1717-8942G>C (n.1717-8942G>C)
c.6652G>C (p.Glu2218Gln)
c.4639G>C (p.Glu1547Gln)
c.4189G>C (p.Glu1397Gln)
c.3397G>C (p.Glu1133Gln)
8g.60853287G>TCA371325736CHD7c.6562G>T (p.Glu2188Ter)
c.1717-8942G>T (n.1717-8942G>T)
c.6652G>T (p.Glu2218Ter)
c.4639G>T (p.Glu1547Ter)
c.4189G>T (p.Glu1397Ter)
c.3397G>T (p.Glu1133Ter)
8g.60853288A>CCA371325737CHD7c.6563A>C (p.Glu2188Ala)
c.1717-8941A>C (n.1717-8941A>C)
c.6653A>C (p.Glu2218Ala)
c.4640A>C (p.Glu1547Ala)
c.4190A>C (p.Glu1397Ala)
c.3398A>C (p.Glu1133Ala)
8g.60853288A>GCA371325739CHD7c.6563A>G (p.Glu2188Gly)
c.1717-8941A>G (n.1717-8941A>G)
c.6653A>G (p.Glu2218Gly)
c.4640A>G (p.Glu1547Gly)
c.4190A>G (p.Glu1397Gly)
c.3398A>G (p.Glu1133Gly)
8g.60853288A>TCA371325741CHD7c.6563A>T (p.Glu2188Val)
c.1717-8941A>T (n.1717-8941A>T)
c.6653A>T (p.Glu2218Val)
c.4640A>T (p.Glu1547Val)
c.4190A>T (p.Glu1397Val)
c.3398A>T (p.Glu1133Val)
8g.60853289G>ACA4760609CHD7c.6564G>A (p.Glu2188=)
c.1717-8940G>A (n.1717-8940G>A)
c.6654G>A (p.Glu2218=)
c.4641G>A (p.Glu1547=)
c.4191G>A (p.Glu1397=)
c.3399G>A (p.Glu1133=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60853289G>CCA371325743CHD7c.6564G>C (p.Glu2188Asp)
c.1717-8940G>C (n.1717-8940G>C)
c.6654G>C (p.Glu2218Asp)
c.4641G>C (p.Glu1547Asp)
c.4191G>C (p.Glu1397Asp)
c.3399G>C (p.Glu1133Asp)
8g.60853289G=CA1788104459CHD7c.6564G= (p.Glu2188=)
c.1717-8940G= (n.1717-8940G=)
c.6654G= (p.Glu2218=)
c.4641G= (p.Glu1547=)
c.4191G= (p.Glu1397=)
c.3399G= (p.Glu1133=)
8g.60853289G>TCA371325742CHD7c.6564G>T (p.Glu2188Asp)
c.1717-8940G>T (n.1717-8940G>T)
c.6654G>T (p.Glu2218Asp)
c.4641G>T (p.Glu1547Asp)
c.4191G>T (p.Glu1397Asp)
c.3399G>T (p.Glu1133Asp)
8g.60853290G>ACA371325744CHD7c.6565G>A (p.Gly2189Ser)
c.1717-8939G>A (n.1717-8939G>A)
c.6655G>A (p.Gly2219Ser)
c.4642G>A (p.Gly1548Ser)
c.4192G>A (p.Gly1398Ser)
c.3400G>A (p.Gly1134Ser)
 ClinVar
8g.60853290G>CCA371325746CHD7c.6565G>C (p.Gly2189Arg)
c.1717-8939G>C (n.1717-8939G>C)
c.6655G>C (p.Gly2219Arg)
c.4642G>C (p.Gly1548Arg)
c.4192G>C (p.Gly1398Arg)
c.3400G>C (p.Gly1134Arg)
8g.60853290G>TCA371325748CHD7c.6565G>T (p.Gly2189Cys)
c.1717-8939G>T (n.1717-8939G>T)
c.6655G>T (p.Gly2219Cys)
c.4642G>T (p.Gly1548Cys)
c.4192G>T (p.Gly1398Cys)
c.3400G>T (p.Gly1134Cys)
8g.60853291G>ACA371325752CHD7c.6566G>A (p.Gly2189Asp)
c.1717-8938G>A (n.1717-8938G>A)
c.6656G>A (p.Gly2219Asp)
c.4643G>A (p.Gly1548Asp)
c.4193G>A (p.Gly1398Asp)
c.3401G>A (p.Gly1134Asp)
8g.60853291G>CCA371325753CHD7c.6566G>C (p.Gly2189Ala)
c.1717-8938G>C (n.1717-8938G>C)
c.6656G>C (p.Gly2219Ala)
c.4643G>C (p.Gly1548Ala)
c.4193G>C (p.Gly1398Ala)
c.3401G>C (p.Gly1134Ala)
8g.60853291G>TCA371325755CHD7c.6566G>T (p.Gly2189Val)
c.1717-8938G>T (n.1717-8938G>T)
c.6656G>T (p.Gly2219Val)
c.4643G>T (p.Gly1548Val)
c.4193G>T (p.Gly1398Val)
c.3401G>T (p.Gly1134Val)
8g.60853292C>ACA461105161CHD7c.6567C>A (p.Gly2189=)
c.1717-8937C>A (n.1717-8937C>A)
c.6657C>A (p.Gly2219=)
c.4644C>A (p.Gly1548=)
c.4194C>A (p.Gly1398=)
c.3402C>A (p.Gly1134=)
8g.60853292C=CA1788104474CHD7c.6567C= (p.Gly2189=)
c.1717-8937C= (n.1717-8937C=)
c.6657C= (p.Gly2219=)
c.4644C= (p.Gly1548=)
c.4194C= (p.Gly1398=)
c.3402C= (p.Gly1134=)
8g.60853292C>GCA461105162CHD7c.6567C>G (p.Gly2189=)
c.1717-8937C>G (n.1717-8937C>G)
c.6657C>G (p.Gly2219=)
c.4644C>G (p.Gly1548=)
c.4194C>G (p.Gly1398=)
c.3402C>G (p.Gly1134=)
8g.60853292C>TCA461105164CHD7c.6567C>T (p.Gly2189=)
c.1717-8937C>T (n.1717-8937C>T)
c.6657C>T (p.Gly2219=)
c.4644C>T (p.Gly1548=)
c.4194C>T (p.Gly1398=)
c.3402C>T (p.Gly1134=)
 dbSNP gnomAD v4
8g.60853293A>CCA371325761CHD7c.6568A>C (p.Lys2190Gln)
c.1717-8936A>C (n.1717-8936A>C)
c.6658A>C (p.Lys2220Gln)
c.4645A>C (p.Lys1549Gln)
c.4195A>C (p.Lys1399Gln)
c.3403A>C (p.Lys1135Gln)
8g.60853293A>GCA371325757CHD7c.6568A>G (p.Lys2190Glu)
c.1717-8936A>G (n.1717-8936A>G)
c.6658A>G (p.Lys2220Glu)
c.4645A>G (p.Lys1549Glu)
c.4195A>G (p.Lys1399Glu)
c.3403A>G (p.Lys1135Glu)
 gnomAD v4
8g.60853293A>TCA371325759CHD7c.6568A>T (p.Lys2190Ter)
c.1717-8936A>T (n.1717-8936A>T)
c.6658A>T (p.Lys2220Ter)
c.4645A>T (p.Lys1549Ter)
c.4195A>T (p.Lys1399Ter)
c.3403A>T (p.Lys1135Ter)
8g.60853294A>CCA371325763CHD7c.6569A>C (p.Lys2190Thr)
c.1717-8935A>C (n.1717-8935A>C)
c.6659A>C (p.Lys2220Thr)
c.4646A>C (p.Lys1549Thr)
c.4196A>C (p.Lys1399Thr)
c.3404A>C (p.Lys1135Thr)
8g.60853294A>GCA371325764CHD7c.6569A>G (p.Lys2190Arg)
c.1717-8935A>G (n.1717-8935A>G)
c.6659A>G (p.Lys2220Arg)
c.4646A>G (p.Lys1549Arg)
c.4196A>G (p.Lys1399Arg)
c.3404A>G (p.Lys1135Arg)
8g.60853294A>TCA371325765CHD7c.6569A>T (p.Lys2190Ile)
c.1717-8935A>T (n.1717-8935A>T)
c.6659A>T (p.Lys2220Ile)
c.4646A>T (p.Lys1549Ile)
c.4196A>T (p.Lys1399Ile)
c.3404A>T (p.Lys1135Ile)
8g.60853295A=CA1788104486CHD7c.6570A= (p.Lys2190=)
c.1717-8934A= (n.1717-8934A=)
c.6660A= (p.Lys2220=)
c.4647A= (p.Lys1549=)
c.4197A= (p.Lys1399=)
c.3405A= (p.Lys1135=)
8g.60853295A>CCA371325767CHD7c.6570A>C (p.Lys2190Asn)
c.1717-8934A>C (n.1717-8934A>C)
c.6660A>C (p.Lys2220Asn)
c.4647A>C (p.Lys1549Asn)
c.4197A>C (p.Lys1399Asn)
c.3405A>C (p.Lys1135Asn)
8g.60853295A>GCA12764106CHD7c.6570A>G (p.Lys2190=)
c.1717-8934A>G (n.1717-8934A>G)
c.6660A>G (p.Lys2220=)
c.4647A>G (p.Lys1549=)
c.4197A>G (p.Lys1399=)
c.3405A>G (p.Lys1135=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60853295A>TCA371325769CHD7c.6570A>T (p.Lys2190Asn)
c.1717-8934A>T (n.1717-8934A>T)
c.6660A>T (p.Lys2220Asn)
c.4647A>T (p.Lys1549Asn)
c.4197A>T (p.Lys1399Asn)
c.3405A>T (p.Lys1135Asn)
8g.60853296delCA2695209429CHD7c.6571del (p.Glu2191LysfsTer24)
c.1717-8933del (n.1717-8933del)
c.6661del (p.Glu2221LysfsTer24)
c.4648del (p.Glu1550LysfsTer24)
c.4198del (p.Glu1400LysfsTer24)
c.3406del (p.Glu1136LysfsTer24)
8g.60853296G>ACA233729CHD7c.6571G>A (p.Glu2191Lys)
c.1717-8933G>A (n.1717-8933G>A)
c.6661G>A (p.Glu2221Lys)
c.4648G>A (p.Glu1550Lys)
c.4198G>A (p.Glu1400Lys)
c.3406G>A (p.Glu1136Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853296G>CCA371325770CHD7c.6571G>C (p.Glu2191Gln)
c.1717-8933G>C (n.1717-8933G>C)
c.6661G>C (p.Glu2221Gln)
c.4648G>C (p.Glu1550Gln)
c.4198G>C (p.Glu1400Gln)
c.3406G>C (p.Glu1136Gln)
 COSMIC
8g.60853296G=CA1788104494CHD7c.6571G= (p.Glu2191=)
c.1717-8933G= (n.1717-8933G=)
c.6661G= (p.Glu2221=)
c.4648G= (p.Glu1550=)
c.4198G= (p.Glu1400=)
c.3406G= (p.Glu1136=)
8g.60853296G>TCA371325771CHD7c.6571G>T (p.Glu2191Ter)
c.1717-8933G>T (n.1717-8933G>T)
c.6661G>T (p.Glu2221Ter)
c.4648G>T (p.Glu1550Ter)
c.4198G>T (p.Glu1400Ter)
c.3406G>T (p.Glu1136Ter)
8g.60853297A>CCA371325775CHD7c.6572A>C (p.Glu2191Ala)
c.1717-8932A>C (n.1717-8932A>C)
c.6662A>C (p.Glu2221Ala)
c.4649A>C (p.Glu1550Ala)
c.4199A>C (p.Glu1400Ala)
c.3407A>C (p.Glu1136Ala)
8g.60853297A>GCA371325776CHD7c.6572A>G (p.Glu2191Gly)
c.1717-8932A>G (n.1717-8932A>G)
c.6662A>G (p.Glu2221Gly)
c.4649A>G (p.Glu1550Gly)
c.4199A>G (p.Glu1400Gly)
c.3407A>G (p.Glu1136Gly)
8g.60853297A>TCA371325777CHD7c.6572A>T (p.Glu2191Val)
c.1717-8932A>T (n.1717-8932A>T)
c.6662A>T (p.Glu2221Val)
c.4649A>T (p.Glu1550Val)
c.4199A>T (p.Glu1400Val)
c.3407A>T (p.Glu1136Val)
8g.60853298A=CA1788104502CHD7c.6573A= (p.Glu2191=)
c.1717-8931A= (n.1717-8931A=)
c.6663A= (p.Glu2221=)
c.4650A= (p.Glu1550=)
c.4200A= (p.Glu1400=)
c.3408A= (p.Glu1136=)
8g.60853298A>CCA371325779CHD7c.6573A>C (p.Glu2191Asp)
c.1717-8931A>C (n.1717-8931A>C)
c.6663A>C (p.Glu2221Asp)
c.4650A>C (p.Glu1550Asp)
c.4200A>C (p.Glu1400Asp)
c.3408A>C (p.Glu1136Asp)
 dbSNP
8g.60853298A>GCA461105169CHD7c.6573A>G (p.Glu2191=)
c.1717-8931A>G (n.1717-8931A>G)
c.6663A>G (p.Glu2221=)
c.4650A>G (p.Glu1550=)
c.4200A>G (p.Glu1400=)
c.3408A>G (p.Glu1136=)
8g.60853298A>TCA371325780CHD7c.6573A>T (p.Glu2191Asp)
c.1717-8931A>T (n.1717-8931A>T)
c.6663A>T (p.Glu2221Asp)
c.4650A>T (p.Glu1550Asp)
c.4200A>T (p.Glu1400Asp)
c.3408A>T (p.Glu1136Asp)
8g.60853299G>ACA371325782CHD7c.6574G>A (p.Glu2192Lys)
c.1717-8930G>A (n.1717-8930G>A)
c.6664G>A (p.Glu2222Lys)
c.4651G>A (p.Glu1551Lys)
c.4201G>A (p.Glu1401Lys)
c.3409G>A (p.Glu1137Lys)
8g.60853299G>CCA4760610CHD7c.6574G>C (p.Glu2192Gln)
c.1717-8930G>C (n.1717-8930G>C)
c.6664G>C (p.Glu2222Gln)
c.4651G>C (p.Glu1551Gln)
c.4201G>C (p.Glu1401Gln)
c.3409G>C (p.Glu1137Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853299G=CA1788104506CHD7c.6574G= (p.Glu2192=)
c.1717-8930G= (n.1717-8930G=)
c.6664G= (p.Glu2222=)
c.4651G= (p.Glu1551=)
c.4201G= (p.Glu1401=)
c.3409G= (p.Glu1137=)
8g.60853299G>TCA371325784CHD7c.6574G>T (p.Glu2192Ter)
c.1717-8930G>T (n.1717-8930G>T)
c.6664G>T (p.Glu2222Ter)
c.4651G>T (p.Glu1551Ter)
c.4201G>T (p.Glu1401Ter)
c.3409G>T (p.Glu1137Ter)
 ClinVar dbSNP
8g.60853300A=CA1788104518CHD7c.6575A= (p.Glu2192=)
c.1717-8929A= (n.1717-8929A=)
c.6665A= (p.Glu2222=)
c.4652A= (p.Glu1551=)
c.4202A= (p.Glu1401=)
c.3410A= (p.Glu1137=)
8g.60853300A>CCA371325785CHD7c.6575A>C (p.Glu2192Ala)
c.1717-8929A>C (n.1717-8929A>C)
c.6665A>C (p.Glu2222Ala)
c.4652A>C (p.Glu1551Ala)
c.4202A>C (p.Glu1401Ala)
c.3410A>C (p.Glu1137Ala)
8g.60853300A>GCA371325787CHD7c.6575A>G (p.Glu2192Gly)
c.1717-8929A>G (n.1717-8929A>G)
c.6665A>G (p.Glu2222Gly)
c.4652A>G (p.Glu1551Gly)
c.4202A>G (p.Glu1401Gly)
c.3410A>G (p.Glu1137Gly)
 dbSNP
8g.60853300A>TCA371325789CHD7c.6575A>T (p.Glu2192Val)
c.1717-8929A>T (n.1717-8929A>T)
c.6665A>T (p.Glu2222Val)
c.4652A>T (p.Glu1551Val)
c.4202A>T (p.Glu1401Val)
c.3410A>T (p.Glu1137Val)
8g.60853301G>ACA461105175CHD7c.6576G>A (p.Glu2192=)
c.1717-8928G>A (n.1717-8928G>A)
c.6666G>A (p.Glu2222=)
c.4653G>A (p.Glu1551=)
c.4203G>A (p.Glu1401=)
c.3411G>A (p.Glu1137=)
8g.60853301G>CCA371325790CHD7c.6576G>C (p.Glu2192Asp)
c.1717-8928G>C (n.1717-8928G>C)
c.6666G>C (p.Glu2222Asp)
c.4653G>C (p.Glu1551Asp)
c.4203G>C (p.Glu1401Asp)
c.3411G>C (p.Glu1137Asp)
8g.60853301G=CA1788104524CHD7c.6576G= (p.Glu2192=)
c.1717-8928G= (n.1717-8928G=)
c.6666G= (p.Glu2222=)
c.4653G= (p.Glu1551=)
c.4203G= (p.Glu1401=)
c.3411G= (p.Glu1137=)
8g.60853301G>TCA371325791CHD7c.6576G>T (p.Glu2192Asp)
c.1717-8928G>T (n.1717-8928G>T)
c.6666G>T (p.Glu2222Asp)
c.4653G>T (p.Glu1551Asp)
c.4203G>T (p.Glu1401Asp)
c.3411G>T (p.Glu1137Asp)
8g.60853302G>ACA177354162CHD7c.6577G>A (p.Glu2193Lys)
c.1717-8927G>A (n.1717-8927G>A)
c.6667G>A (p.Glu2223Lys)
c.4654G>A (p.Glu1552Lys)
c.4204G>A (p.Glu1402Lys)
c.3412G>A (p.Glu1138Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60853302G>CCA371325794CHD7c.6577G>C (p.Glu2193Gln)
c.1717-8927G>C (n.1717-8927G>C)
c.6667G>C (p.Glu2223Gln)
c.4654G>C (p.Glu1552Gln)
c.4204G>C (p.Glu1402Gln)
c.3412G>C (p.Glu1138Gln)
8g.60853302G=CA1788104537CHD7c.6577G= (p.Glu2193=)
c.1717-8927G= (n.1717-8927G=)
c.6667G= (p.Glu2223=)
c.4654G= (p.Glu1552=)
c.4204G= (p.Glu1402=)
c.3412G= (p.Glu1138=)
8g.60853302G>TCA371325793CHD7c.6577G>T (p.Glu2193Ter)
c.1717-8927G>T (n.1717-8927G>T)
c.6667G>T (p.Glu2223Ter)
c.4654G>T (p.Glu1552Ter)
c.4204G>T (p.Glu1402Ter)
c.3412G>T (p.Glu1138Ter)
8g.60853302_60853303insGCAAAGCA853913591CHD7c.6577_6578insGCAAAG (p.Glu2192_Glu2193insGlyLys)
c.1717-8927_1717-8926insGCAAAG (n.1717-8927_1717-8926insGCAAAG)
c.6667_6668insGCAAAG (p.Glu2222_Glu2223insGlyLys)
c.4654_4655insGCAAAG (p.Glu1551_Glu1552insGlyLys)
c.4204_4205insGCAAAG (p.Glu1401_Glu1402insGlyLys)
c.3412_3413insGCAAAG (p.Glu1137_Glu1138insGlyLys)
 dbSNP
8g.60853303A>CCA371325796CHD7c.6578A>C (p.Glu2193Ala)
c.1717-8926A>C (n.1717-8926A>C)
c.6668A>C (p.Glu2223Ala)
c.4655A>C (p.Glu1552Ala)
c.4205A>C (p.Glu1402Ala)
c.3413A>C (p.Glu1138Ala)
8g.60853303A>GCA371325798CHD7c.6578A>G (p.Glu2193Gly)
c.1717-8926A>G (n.1717-8926A>G)
c.6668A>G (p.Glu2223Gly)
c.4655A>G (p.Glu1552Gly)
c.4205A>G (p.Glu1402Gly)
c.3413A>G (p.Glu1138Gly)
8g.60853303A>TCA371325799CHD7c.6578A>T (p.Glu2193Val)
c.1717-8926A>T (n.1717-8926A>T)
c.6668A>T (p.Glu2223Val)
c.4655A>T (p.Glu1552Val)
c.4205A>T (p.Glu1402Val)
c.3413A>T (p.Glu1138Val)
8g.60853304A>CCA371325801CHD7c.6579A>C (p.Glu2193Asp)
c.1717-8925A>C (n.1717-8925A>C)
c.6669A>C (p.Glu2223Asp)
c.4656A>C (p.Glu1552Asp)
c.4206A>C (p.Glu1402Asp)
c.3414A>C (p.Glu1138Asp)
8g.60853304A>GCA461105180CHD7c.6579A>G (p.Glu2193=)
c.1717-8925A>G (n.1717-8925A>G)
c.6669A>G (p.Glu2223=)
c.4656A>G (p.Glu1552=)
c.4206A>G (p.Glu1402=)
c.3414A>G (p.Glu1138=)
8g.60853304A>TCA371325802CHD7c.6579A>T (p.Glu2193Asp)
c.1717-8925A>T (n.1717-8925A>T)
c.6669A>T (p.Glu2223Asp)
c.4656A>T (p.Glu1552Asp)
c.4206A>T (p.Glu1402Asp)
c.3414A>T (p.Glu1138Asp)
 gnomAD v4
8g.60853305G>ACA371325804CHD7c.6580G>A (p.Glu2194Lys)
c.1717-8924G>A (n.1717-8924G>A)
c.6670G>A (p.Glu2224Lys)
c.4657G>A (p.Glu1553Lys)
c.4207G>A (p.Glu1403Lys)
c.3415G>A (p.Glu1139Lys)
8g.60853305G>CCA371325806CHD7c.6580G>C (p.Glu2194Gln)
c.1717-8924G>C (n.1717-8924G>C)
c.6670G>C (p.Glu2224Gln)
c.4657G>C (p.Glu1553Gln)
c.4207G>C (p.Glu1403Gln)
c.3415G>C (p.Glu1139Gln)
8g.60853305G>TCA371325807CHD7c.6580G>T (p.Glu2194Ter)
c.1717-8924G>T (n.1717-8924G>T)
c.6670G>T (p.Glu2224Ter)
c.4657G>T (p.Glu1553Ter)
c.4207G>T (p.Glu1403Ter)
c.3415G>T (p.Glu1139Ter)
8g.60853306A>CCA371325808CHD7c.6581A>C (p.Glu2194Ala)
c.1717-8923A>C (n.1717-8923A>C)
c.6671A>C (p.Glu2224Ala)
c.4658A>C (p.Glu1553Ala)
c.4208A>C (p.Glu1403Ala)
c.3416A>C (p.Glu1139Ala)
8g.60853306A>GCA371325809CHD7c.6581A>G (p.Glu2194Gly)
c.1717-8923A>G (n.1717-8923A>G)
c.6671A>G (p.Glu2224Gly)
c.4658A>G (p.Glu1553Gly)
c.4208A>G (p.Glu1403Gly)
c.3416A>G (p.Glu1139Gly)
8g.60853306A>TCA371325810CHD7c.6581A>T (p.Glu2194Val)
c.1717-8923A>T (n.1717-8923A>T)
c.6671A>T (p.Glu2224Val)
c.4658A>T (p.Glu1553Val)
c.4208A>T (p.Glu1403Val)
c.3416A>T (p.Glu1139Val)
8g.60853307A=CA1788104544CHD7c.6582A= (p.Glu2194=)
c.1717-8922A= (n.1717-8922A=)
c.6672A= (p.Glu2224=)
c.4659A= (p.Glu1553=)
c.4209A= (p.Glu1403=)
c.3417A= (p.Glu1139=)
8g.60853307A>CCA371325812CHD7c.6582A>C (p.Glu2194Asp)
c.1717-8922A>C (n.1717-8922A>C)
c.6672A>C (p.Glu2224Asp)
c.4659A>C (p.Glu1553Asp)
c.4209A>C (p.Glu1403Asp)
c.3417A>C (p.Glu1139Asp)
8g.60853307A>GCA461105186CHD7c.6582A>G (p.Glu2194=)
c.1717-8922A>G (n.1717-8922A>G)
c.6672A>G (p.Glu2224=)
c.4659A>G (p.Glu1553=)
c.4209A>G (p.Glu1403=)
c.3417A>G (p.Glu1139=)
 dbSNP gnomAD v4
8g.60853307A>TCA371325814CHD7c.6582A>T (p.Glu2194Asp)
c.1717-8922A>T (n.1717-8922A>T)
c.6672A>T (p.Glu2224Asp)
c.4659A>T (p.Glu1553Asp)
c.4209A>T (p.Glu1403Asp)
c.3417A>T (p.Glu1139Asp)
8g.60853308G>ACA371325817CHD7c.6583G>A (p.Glu2195Lys)
c.1717-8921G>A (n.1717-8921G>A)
c.6673G>A (p.Glu2225Lys)
c.4660G>A (p.Glu1554Lys)
c.4210G>A (p.Glu1404Lys)
c.3418G>A (p.Glu1140Lys)
8g.60853308G>CCA4760611CHD7c.6583G>C (p.Glu2195Gln)
c.1717-8921G>C (n.1717-8921G>C)
c.6673G>C (p.Glu2225Gln)
c.4660G>C (p.Glu1554Gln)
c.4210G>C (p.Glu1404Gln)
c.3418G>C (p.Glu1140Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853308G=CA1788104548CHD7c.6583G= (p.Glu2195=)
c.1717-8921G= (n.1717-8921G=)
c.6673G= (p.Glu2225=)
c.4660G= (p.Glu1554=)
c.4210G= (p.Glu1404=)
c.3418G= (p.Glu1140=)
8g.60853308G>TCA371325815CHD7c.6583G>T (p.Glu2195Ter)
c.1717-8921G>T (n.1717-8921G>T)
c.6673G>T (p.Glu2225Ter)
c.4660G>T (p.Glu1554Ter)
c.4210G>T (p.Glu1404Ter)
c.3418G>T (p.Glu1140Ter)
8g.60853309A>CCA371325819CHD7c.6584A>C (p.Glu2195Ala)
c.1717-8920A>C (n.1717-8920A>C)
c.6674A>C (p.Glu2225Ala)
c.4661A>C (p.Glu1554Ala)
c.4211A>C (p.Glu1404Ala)
c.3419A>C (p.Glu1140Ala)
8g.60853309A>GCA371325820CHD7c.6584A>G (p.Glu2195Gly)
c.1717-8920A>G (n.1717-8920A>G)
c.6674A>G (p.Glu2225Gly)
c.4661A>G (p.Glu1554Gly)
c.4211A>G (p.Glu1404Gly)
c.3419A>G (p.Glu1140Gly)
8g.60853309A>TCA371325822CHD7c.6584A>T (p.Glu2195Val)
c.1717-8920A>T (n.1717-8920A>T)
c.6674A>T (p.Glu2225Val)
c.4661A>T (p.Glu1554Val)
c.4211A>T (p.Glu1404Val)
c.3419A>T (p.Glu1140Val)
8g.60853310A>CCA371325824CHD7c.6585A>C (p.Glu2195Asp)
c.1717-8919A>C (n.1717-8919A>C)
c.6675A>C (p.Glu2225Asp)
c.4662A>C (p.Glu1554Asp)
c.4212A>C (p.Glu1404Asp)
c.3420A>C (p.Glu1140Asp)
8g.60853310A>GCA461105375CHD7c.6585A>G (p.Glu2195=)
c.1717-8919A>G (n.1717-8919A>G)
c.6675A>G (p.Glu2225=)
c.4662A>G (p.Glu1554=)
c.4212A>G (p.Glu1404=)
c.3420A>G (p.Glu1140=)
8g.60853310A>TCA371325825CHD7c.6585A>T (p.Glu2195Asp)
c.1717-8919A>T (n.1717-8919A>T)
c.6675A>T (p.Glu2225Asp)
c.4662A>T (p.Glu1554Asp)
c.4212A>T (p.Glu1404Asp)
c.3420A>T (p.Glu1140Asp)
8g.60853311A>CCA371325827CHD7c.6586A>C (p.Thr2196Pro)
c.1717-8918A>C (n.1717-8918A>C)
c.6676A>C (p.Thr2226Pro)
c.4663A>C (p.Thr1555Pro)
c.4213A>C (p.Thr1405Pro)
c.3421A>C (p.Thr1141Pro)
8g.60853311A>GCA371325828CHD7c.6586A>G (p.Thr2196Ala)
c.1717-8918A>G (n.1717-8918A>G)
c.6676A>G (p.Thr2226Ala)
c.4663A>G (p.Thr1555Ala)
c.4213A>G (p.Thr1405Ala)
c.3421A>G (p.Thr1141Ala)
8g.60853311A>TCA371325830CHD7c.6586A>T (p.Thr2196Ser)
c.1717-8918A>T (n.1717-8918A>T)
c.6676A>T (p.Thr2226Ser)
c.4663A>T (p.Thr1555Ser)
c.4213A>T (p.Thr1405Ser)
c.3421A>T (p.Thr1141Ser)
8g.60853312C>ACA371325832CHD7c.6587C>A (p.Thr2196Asn)
c.1717-8917C>A (n.1717-8917C>A)
c.6677C>A (p.Thr2226Asn)
c.4664C>A (p.Thr1555Asn)
c.4214C>A (p.Thr1405Asn)
c.3422C>A (p.Thr1141Asn)
 gnomAD v4
8g.60853312C>GCA371325834CHD7c.6587C>G (p.Thr2196Ser)
c.1717-8917C>G (n.1717-8917C>G)
c.6677C>G (p.Thr2226Ser)
c.4664C>G (p.Thr1555Ser)
c.4214C>G (p.Thr1405Ser)
c.3422C>G (p.Thr1141Ser)
8g.60853312C>TCA371325835CHD7c.6587C>T (p.Thr2196Ile)
c.1717-8917C>T (n.1717-8917C>T)
c.6677C>T (p.Thr2226Ile)
c.4664C>T (p.Thr1555Ile)
c.4214C>T (p.Thr1405Ile)
c.3422C>T (p.Thr1141Ile)
 COSMIC
8g.60853312_60853314delinsTACA2695209430CHD7c.6587_6589delinsTA (p.Thr2196IlefsTer19)
c.1717-8917_1717-8915delinsTA (n.1717-8917_1717-8915delinsTA)
c.6677_6679delinsTA (p.Thr2226IlefsTer19)
c.4664_4666delinsTA (p.Thr1555IlefsTer19)
c.4214_4216delinsTA (p.Thr1405IlefsTer19)
c.3422_3424delinsTA (p.Thr1141IlefsTer19)
8g.60853313C>ACA461105385CHD7c.6588C>A (p.Thr2196=)
c.1717-8916C>A (n.1717-8916C>A)
c.6678C>A (p.Thr2226=)
c.4665C>A (p.Thr1555=)
c.4215C>A (p.Thr1405=)
c.3423C>A (p.Thr1141=)
8g.60853313C=CA1788104554CHD7c.6588C= (p.Thr2196=)
c.1717-8916C= (n.1717-8916C=)
c.6678C= (p.Thr2226=)
c.4665C= (p.Thr1555=)
c.4215C= (p.Thr1405=)
c.3423C= (p.Thr1141=)
8g.60853313C>GCA461105386CHD7c.6588C>G (p.Thr2196=)
c.1717-8916C>G (n.1717-8916C>G)
c.6678C>G (p.Thr2226=)
c.4665C>G (p.Thr1555=)
c.4215C>G (p.Thr1405=)
c.3423C>G (p.Thr1141=)
 dbSNP gnomAD v2
8g.60853313C>TCA4760612CHD7c.6588C>T (p.Thr2196=)
c.1717-8916C>T (n.1717-8916C>T)
c.6678C>T (p.Thr2226=)
c.4665C>T (p.Thr1555=)
c.4215C>T (p.Thr1405=)
c.3423C>T (p.Thr1141=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853314G>ACA4760613CHD7c.6589G>A (p.Asp2197Asn)
c.1717-8915G>A (n.1717-8915G>A)
c.6679G>A (p.Asp2227Asn)
c.4666G>A (p.Asp1556Asn)
c.4216G>A (p.Asp1406Asn)
c.3424G>A (p.Asp1142Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853314G>CCA371325839CHD7c.6589G>C (p.Asp2197His)
c.1717-8915G>C (n.1717-8915G>C)
c.6679G>C (p.Asp2227His)
c.4666G>C (p.Asp1556His)
c.4216G>C (p.Asp1406His)
c.3424G>C (p.Asp1142His)
8g.60853314G=CA1788104570CHD7c.6589G= (p.Asp2197=)
c.1717-8915G= (n.1717-8915G=)
c.6679G= (p.Asp2227=)
c.4666G= (p.Asp1556=)
c.4216G= (p.Asp1406=)
c.3424G= (p.Asp1142=)
8g.60853314G>TCA371325837CHD7c.6589G>T (p.Asp2197Tyr)
c.1717-8915G>T (n.1717-8915G>T)
c.6679G>T (p.Asp2227Tyr)
c.4666G>T (p.Asp1556Tyr)
c.4216G>T (p.Asp1406Tyr)
c.3424G>T (p.Asp1142Tyr)
 gnomAD v4
8g.60853315A=CA1788104578CHD7c.6590A= (p.Asp2197=)
c.1717-8914A= (n.1717-8914A=)
c.6680A= (p.Asp2227=)
c.4667A= (p.Asp1556=)
c.4217A= (p.Asp1406=)
c.3425A= (p.Asp1142=)
8g.60853315A>CCA371325843CHD7c.6590A>C (p.Asp2197Ala)
c.1717-8914A>C (n.1717-8914A>C)
c.6680A>C (p.Asp2227Ala)
c.4667A>C (p.Asp1556Ala)
c.4217A>C (p.Asp1406Ala)
c.3425A>C (p.Asp1142Ala)
8g.60853315A>GCA371325841CHD7c.6590A>G (p.Asp2197Gly)
c.1717-8914A>G (n.1717-8914A>G)
c.6680A>G (p.Asp2227Gly)
c.4667A>G (p.Asp1556Gly)
c.4217A>G (p.Asp1406Gly)
c.3425A>G (p.Asp1142Gly)
 dbSNP
8g.60853315A>TCA371325845CHD7c.6590A>T (p.Asp2197Val)
c.1717-8914A>T (n.1717-8914A>T)
c.6680A>T (p.Asp2227Val)
c.4667A>T (p.Asp1556Val)
c.4217A>T (p.Asp1406Val)
c.3425A>T (p.Asp1142Val)
8g.60853316T>ACA371325846CHD7c.6591T>A (p.Asp2197Glu)
c.1717-8913T>A (n.1717-8913T>A)
c.6681T>A (p.Asp2227Glu)
c.4668T>A (p.Asp1556Glu)
c.4218T>A (p.Asp1406Glu)
c.3426T>A (p.Asp1142Glu)
 dbSNP gnomAD v4
8g.60853316T>CCA461105392CHD7c.6591T>C (p.Asp2197=)
c.1717-8913T>C (n.1717-8913T>C)
c.6681T>C (p.Asp2227=)
c.4668T>C (p.Asp1556=)
c.4218T>C (p.Asp1406=)
c.3426T>C (p.Asp1142=)
 gnomAD v4
8g.60853316T>GCA371325847CHD7c.6591T>G (p.Asp2197Glu)
c.1717-8913T>G (n.1717-8913T>G)
c.6681T>G (p.Asp2227Glu)
c.4668T>G (p.Asp1556Glu)
c.4218T>G (p.Asp1406Glu)
c.3426T>G (p.Asp1142Glu)
8g.60853316T=CA1788104581CHD7c.6591T= (p.Asp2197=)
c.1717-8913T= (n.1717-8913T=)
c.6681T= (p.Asp2227=)
c.4668T= (p.Asp1556=)
c.4218T= (p.Asp1406=)
c.3426T= (p.Asp1142=)
8g.60853317G>ACA371325849CHD7c.6592G>A (p.Gly2198Ser)
c.1717-8912G>A (n.1717-8912G>A)
c.6682G>A (p.Gly2228Ser)
c.4669G>A (p.Gly1557Ser)
c.4219G>A (p.Gly1407Ser)
c.3427G>A (p.Gly1143Ser)
8g.60853317G>CCA371325851CHD7c.6592G>C (p.Gly2198Arg)
c.1717-8912G>C (n.1717-8912G>C)
c.6682G>C (p.Gly2228Arg)
c.4669G>C (p.Gly1557Arg)
c.4219G>C (p.Gly1407Arg)
c.3427G>C (p.Gly1143Arg)
8g.60853317G>TCA371325853CHD7c.6592G>T (p.Gly2198Cys)
c.1717-8912G>T (n.1717-8912G>T)
c.6682G>T (p.Gly2228Cys)
c.4669G>T (p.Gly1557Cys)
c.4219G>T (p.Gly1407Cys)
c.3427G>T (p.Gly1143Cys)
8g.60853318G>ACA371325854CHD7c.6593G>A (p.Gly2198Asp)
c.1717-8911G>A (n.1717-8911G>A)
c.6683G>A (p.Gly2228Asp)
c.4670G>A (p.Gly1557Asp)
c.4220G>A (p.Gly1407Asp)
c.3428G>A (p.Gly1143Asp)
 dbSNP
8g.60853318G>CCA371325855CHD7c.6593G>C (p.Gly2198Ala)
c.1717-8911G>C (n.1717-8911G>C)
c.6683G>C (p.Gly2228Ala)
c.4670G>C (p.Gly1557Ala)
c.4220G>C (p.Gly1407Ala)
c.3428G>C (p.Gly1143Ala)
8g.60853318G=CA1788104586CHD7c.6593G= (p.Gly2198=)
c.1717-8911G= (n.1717-8911G=)
c.6683G= (p.Gly2228=)
c.4670G= (p.Gly1557=)
c.4220G= (p.Gly1407=)
c.3428G= (p.Gly1143=)
8g.60853318G>TCA371325857CHD7c.6593G>T (p.Gly2198Val)
c.1717-8911G>T (n.1717-8911G>T)
c.6683G>T (p.Gly2228Val)
c.4670G>T (p.Gly1557Val)
c.4220G>T (p.Gly1407Val)
c.3428G>T (p.Gly1143Val)
8g.60853319C>ACA461105397CHD7c.6594C>A (p.Gly2198=)
c.1717-8910C>A (n.1717-8910C>A)
c.6684C>A (p.Gly2228=)
c.4671C>A (p.Gly1557=)
c.4221C>A (p.Gly1407=)
c.3429C>A (p.Gly1143=)
8g.60853319C>GCA461105398CHD7c.6594C>G (p.Gly2198=)
c.1717-8910C>G (n.1717-8910C>G)
c.6684C>G (p.Gly2228=)
c.4671C>G (p.Gly1557=)
c.4221C>G (p.Gly1407=)
c.3429C>G (p.Gly1143=)
8g.60853319C>TCA461105401CHD7c.6594C>T (p.Gly2198=)
c.1717-8910C>T (n.1717-8910C>T)
c.6684C>T (p.Gly2228=)
c.4671C>T (p.Gly1557=)
c.4221C>T (p.Gly1407=)
c.3429C>T (p.Gly1143=)
 ClinVar
8g.60853320A>CCA371325859CHD7c.6595A>C (p.Ser2199Arg)
c.1717-8909A>C (n.1717-8909A>C)
c.6685A>C (p.Ser2229Arg)
c.4672A>C (p.Ser1558Arg)
c.4222A>C (p.Ser1408Arg)
c.3430A>C (p.Ser1144Arg)
8g.60853320A>GCA371325860CHD7c.6595A>G (p.Ser2199Gly)
c.1717-8909A>G (n.1717-8909A>G)
c.6685A>G (p.Ser2229Gly)
c.4672A>G (p.Ser1558Gly)
c.4222A>G (p.Ser1408Gly)
c.3430A>G (p.Ser1144Gly)
8g.60853320A>TCA371325862CHD7c.6595A>T (p.Ser2199Cys)
c.1717-8909A>T (n.1717-8909A>T)
c.6685A>T (p.Ser2229Cys)
c.4672A>T (p.Ser1558Cys)
c.4222A>T (p.Ser1408Cys)
c.3430A>T (p.Ser1144Cys)
8g.60853321G>ACA16618678CHD7c.6596G>A (p.Ser2199Asn)
c.1717-8908G>A (n.1717-8908G>A)
c.6686G>A (p.Ser2229Asn)
c.4673G>A (p.Ser1558Asn)
c.4223G>A (p.Ser1408Asn)
c.3431G>A (p.Ser1144Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60853321G>CCA371325864CHD7c.6596G>C (p.Ser2199Thr)
c.1717-8908G>C (n.1717-8908G>C)
c.6686G>C (p.Ser2229Thr)
c.4673G>C (p.Ser1558Thr)
c.4223G>C (p.Ser1408Thr)
c.3431G>C (p.Ser1144Thr)
8g.60853321G=CA1788104599CHD7c.6596G= (p.Ser2199=)
c.1717-8908G= (n.1717-8908G=)
c.6686G= (p.Ser2229=)
c.4673G= (p.Ser1558=)
c.4223G= (p.Ser1408=)
c.3431G= (p.Ser1144=)
8g.60853321G>TCA371325866CHD7c.6596G>T (p.Ser2199Ile)
c.1717-8908G>T (n.1717-8908G>T)
c.6686G>T (p.Ser2229Ile)
c.4673G>T (p.Ser1558Ile)
c.4223G>T (p.Ser1408Ile)
c.3431G>T (p.Ser1144Ile)
8g.60853322C>ACA371325869CHD7c.6597C>A (p.Ser2199Arg)
c.1717-8907C>A (n.1717-8907C>A)
c.6687C>A (p.Ser2229Arg)
c.4674C>A (p.Ser1558Arg)
c.4224C>A (p.Ser1408Arg)
c.3432C>A (p.Ser1144Arg)
8g.60853322C=CA1788104604CHD7c.6597C= (p.Ser2199=)
c.1717-8907C= (n.1717-8907C=)
c.6687C= (p.Ser2229=)
c.4674C= (p.Ser1558=)
c.4224C= (p.Ser1408=)
c.3432C= (p.Ser1144=)
8g.60853322C>GCA371325868CHD7c.6597C>G (p.Ser2199Arg)
c.1717-8907C>G (n.1717-8907C>G)
c.6687C>G (p.Ser2229Arg)
c.4674C>G (p.Ser1558Arg)
c.4224C>G (p.Ser1408Arg)
c.3432C>G (p.Ser1144Arg)
8g.60853322C>TCA4760614CHD7c.6597C>T (p.Ser2199=)
c.1717-8907C>T (n.1717-8907C>T)
c.6687C>T (p.Ser2229=)
c.4674C>T (p.Ser1558=)
c.4224C>T (p.Ser1408=)
c.3432C>T (p.Ser1144=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853322_60853323insTCA2568225796CHD7c.6597_6598insT (p.Gly2200TrpfsTer9)
c.1717-8907_1717-8906insT (n.1717-8907_1717-8906insT)
c.6687_6688insT (p.Gly2230TrpfsTer9)
c.4674_4675insT (p.Gly1559TrpfsTer9)
c.4224_4225insT (p.Gly1409TrpfsTer9)
c.3432_3433insT (p.Gly1145TrpfsTer9)
8g.60853323G>ACA177354170CHD7c.6598G>A (p.Gly2200Arg)
c.1717-8906G>A (n.1717-8906G>A)
c.6688G>A (p.Gly2230Arg)
c.4675G>A (p.Gly1559Arg)
c.4225G>A (p.Gly1409Arg)
c.3433G>A (p.Gly1145Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.60853323G>CCA371325871CHD7c.6598G>C (p.Gly2200Arg)
c.1717-8906G>C (n.1717-8906G>C)
c.6688G>C (p.Gly2230Arg)
c.4675G>C (p.Gly1559Arg)
c.4225G>C (p.Gly1409Arg)
c.3433G>C (p.Gly1145Arg)
 ClinVar dbSNP
8g.60853323G=CA1788104614CHD7c.6598G= (p.Gly2200=)
c.1717-8906G= (n.1717-8906G=)
c.6688G= (p.Gly2230=)
c.4675G= (p.Gly1559=)
c.4225G= (p.Gly1409=)
c.3433G= (p.Gly1145=)
8g.60853323G>TCA4760615CHD7c.6598G>T (p.Gly2200Trp)
c.1717-8906G>T (n.1717-8906G>T)
c.6688G>T (p.Gly2230Trp)
c.4675G>T (p.Gly1559Trp)
c.4225G>T (p.Gly1409Trp)
c.3433G>T (p.Gly1145Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60853324G>ACA371325873CHD7c.6599G>A (p.Gly2200Glu)
c.1717-8905G>A (n.1717-8905G>A)
c.6689G>A (p.Gly2230Glu)
c.4676G>A (p.Gly1559Glu)
c.4226G>A (p.Gly1409Glu)
c.3434G>A (p.Gly1145Glu)
 dbSNP gnomAD v2 gnomAD v4
8g.60853324G>CCA371325874CHD7c.6599G>C (p.Gly2200Ala)
c.1717-8905G>C (n.1717-8905G>C)
c.6689G>C (p.Gly2230Ala)
c.4676G>C (p.Gly1559Ala)
c.4226G>C (p.Gly1409Ala)
c.3434G>C (p.Gly1145Ala)
8g.60853324G=CA1788104620CHD7c.6599G= (p.Gly2200=)
c.1717-8905G= (n.1717-8905G=)
c.6689G= (p.Gly2230=)
c.4676G= (p.Gly1559=)
c.4226G= (p.Gly1409=)
c.3434G= (p.Gly1145=)
8g.60853324G>TCA371325876CHD7c.6599G>T (p.Gly2200Val)
c.1717-8905G>T (n.1717-8905G>T)
c.6689G>T (p.Gly2230Val)
c.4676G>T (p.Gly1559Val)
c.4226G>T (p.Gly1409Val)
c.3434G>T (p.Gly1145Val)
8g.60853325G>ACA461105414CHD7c.6600G>A (p.Gly2200=)
c.1717-8904G>A (n.1717-8904G>A)
c.6690G>A (p.Gly2230=)
c.4677G>A (p.Gly1559=)
c.4227G>A (p.Gly1409=)
c.3435G>A (p.Gly1145=)
 ClinVar dbSNP
8g.60853325G>CCA461105416CHD7c.6600G>C (p.Gly2200=)
c.1717-8904G>C (n.1717-8904G>C)
c.6690G>C (p.Gly2230=)
c.4677G>C (p.Gly1559=)
c.4227G>C (p.Gly1409=)
c.3435G>C (p.Gly1145=)
8g.60853325G>TCA461105417CHD7c.6600G>T (p.Gly2200=)
c.1717-8904G>T (n.1717-8904G>T)
c.6690G>T (p.Gly2230=)
c.4677G>T (p.Gly1559=)
c.4227G>T (p.Gly1409=)
c.3435G>T (p.Gly1145=)
 gnomAD v4
8g.60853326A>CCA371325878CHD7c.6601A>C (p.Lys2201Gln)
c.1717-8903A>C (n.1717-8903A>C)
c.6691A>C (p.Lys2231Gln)
c.4678A>C (p.Lys1560Gln)
c.4228A>C (p.Lys1410Gln)
c.3436A>C (p.Lys1146Gln)
8g.60853326A>GCA371325880CHD7c.6601A>G (p.Lys2201Glu)
c.1717-8903A>G (n.1717-8903A>G)
c.6691A>G (p.Lys2231Glu)
c.4678A>G (p.Lys1560Glu)
c.4228A>G (p.Lys1410Glu)
c.3436A>G (p.Lys1146Glu)
8g.60853326A>TCA371325881CHD7c.6601A>T (p.Lys2201Ter)
c.1717-8903A>T (n.1717-8903A>T)
c.6691A>T (p.Lys2231Ter)
c.4678A>T (p.Lys1560Ter)
c.4228A>T (p.Lys1410Ter)
c.3436A>T (p.Lys1146Ter)
8g.60853327dupCA2695209431CHD7c.6602dup (p.Glu2202GlyfsTer7)
c.1717-8902dup (n.1717-8902dup)
c.6692dup (p.Glu2232GlyfsTer7)
c.4679dup (p.Glu1561GlyfsTer7)
c.4229dup (p.Glu1411GlyfsTer7)
c.3437dup (p.Glu1147GlyfsTer7)
8g.60853327A>CCA371325883CHD7c.6602A>C (p.Lys2201Thr)
c.1717-8902A>C (n.1717-8902A>C)
c.6692A>C (p.Lys2231Thr)
c.4679A>C (p.Lys1560Thr)
c.4229A>C (p.Lys1410Thr)
c.3437A>C (p.Lys1146Thr)
8g.60853327A>GCA371325885CHD7c.6602A>G (p.Lys2201Arg)
c.1717-8902A>G (n.1717-8902A>G)
c.6692A>G (p.Lys2231Arg)
c.4679A>G (p.Lys1560Arg)
c.4229A>G (p.Lys1410Arg)
c.3437A>G (p.Lys1146Arg)
8g.60853327A>TCA371325886CHD7c.6602A>T (p.Lys2201Met)
c.1717-8902A>T (n.1717-8902A>T)
c.6692A>T (p.Lys2231Met)
c.4679A>T (p.Lys1560Met)
c.4229A>T (p.Lys1410Met)
c.3437A>T (p.Lys1146Met)
8g.60853328G>ACA461105431CHD7c.6603G>A (p.Lys2201=)
c.1717-8901G>A (n.1717-8901G>A)
c.6693G>A (p.Lys2231=)
c.4680G>A (p.Lys1560=)
c.4230G>A (p.Lys1410=)
c.3438G>A (p.Lys1146=)
 ClinVar dbSNP gnomAD v4
8g.60853328G>CCA371325888CHD7c.6603G>C (p.Lys2201Asn)
c.1717-8901G>C (n.1717-8901G>C)
c.6693G>C (p.Lys2231Asn)
c.4680G>C (p.Lys1560Asn)
c.4230G>C (p.Lys1410Asn)
c.3438G>C (p.Lys1146Asn)
 ClinVar
8g.60853328G=CA1788104628CHD7c.6603G= (p.Lys2201=)
c.1717-8901G= (n.1717-8901G=)
c.6693G= (p.Lys2231=)
c.4680G= (p.Lys1560=)
c.4230G= (p.Lys1410=)
c.3438G= (p.Lys1146=)
8g.60853328G>TCA371325890CHD7c.6603G>T (p.Lys2201Asn)
c.1717-8901G>T (n.1717-8901G>T)
c.6693G>T (p.Lys2231Asn)
c.4680G>T (p.Lys1560Asn)
c.4230G>T (p.Lys1410Asn)
c.3438G>T (p.Lys1146Asn)
8g.60853329G>ACA371325891CHD7c.6604G>A (p.Glu2202Lys)
c.1717-8900G>A (n.1717-8900G>A)
c.6694G>A (p.Glu2232Lys)
c.4681G>A (p.Glu1561Lys)
c.4231G>A (p.Glu1411Lys)
c.3439G>A (p.Glu1147Lys)
8g.60853329G>CCA371325892CHD7c.6604G>C (p.Glu2202Gln)
c.1717-8900G>C (n.1717-8900G>C)
c.6694G>C (p.Glu2232Gln)
c.4681G>C (p.Glu1561Gln)
c.4231G>C (p.Glu1411Gln)
c.3439G>C (p.Glu1147Gln)
 gnomAD v4 COSMIC
8g.60853329G>TCA371325894CHD7c.6604G>T (p.Glu2202Ter)
c.1717-8900G>T (n.1717-8900G>T)
c.6694G>T (p.Glu2232Ter)
c.4681G>T (p.Glu1561Ter)
c.4231G>T (p.Glu1411Ter)
c.3439G>T (p.Glu1147Ter)
8g.60853330A>CCA371325895CHD7c.6605A>C (p.Glu2202Ala)
c.1717-8899A>C (n.1717-8899A>C)
c.6695A>C (p.Glu2232Ala)
c.4682A>C (p.Glu1561Ala)
c.4232A>C (p.Glu1411Ala)
c.3440A>C (p.Glu1147Ala)
8g.60853330A>GCA371325897CHD7c.6605A>G (p.Glu2202Gly)
c.1717-8899A>G (n.1717-8899A>G)
c.6695A>G (p.Glu2232Gly)
c.4682A>G (p.Glu1561Gly)
c.4232A>G (p.Glu1411Gly)
c.3440A>G (p.Glu1147Gly)
8g.60853330A>TCA371325899CHD7c.6605A>T (p.Glu2202Val)
c.1717-8899A>T (n.1717-8899A>T)
c.6695A>T (p.Glu2232Val)
c.4682A>T (p.Glu1561Val)
c.4232A>T (p.Glu1411Val)
c.3440A>T (p.Glu1147Val)
8g.60853331G>ACA461105440CHD7c.6606G>A (p.Glu2202=)
c.1717-8898G>A (n.1717-8898G>A)
c.6696G>A (p.Glu2232=)
c.4683G>A (p.Glu1561=)
c.4233G>A (p.Glu1411=)
c.3441G>A (p.Glu1147=)
 gnomAD v4
8g.60853331G>CCA371325900CHD7c.6606G>C (p.Glu2202Asp)
c.1717-8898G>C (n.1717-8898G>C)
c.6696G>C (p.Glu2232Asp)
c.4683G>C (p.Glu1561Asp)
c.4233G>C (p.Glu1411Asp)
c.3441G>C (p.Glu1147Asp)
8g.60853331G>TCA371325901CHD7c.6606G>T (p.Glu2202Asp)
c.1717-8898G>T (n.1717-8898G>T)
c.6696G>T (p.Glu2232Asp)
c.4683G>T (p.Glu1561Asp)
c.4233G>T (p.Glu1411Asp)
c.3441G>T (p.Glu1147Asp)

Number of alleles fetched