Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.60848820_60849136delinsATCCAAACACACCATGTCA2739268791CHD7c.5300+216_5386delinsATCCAAACACACCATGT
c.1717-13409_1717-13093delinsATCCAAACACACCATGT (n.1717-13409_1717-13093delinsATCCAAACACACCATGT)
c.5390+216_5476delinsATCCAAACACACCATGT
c.3377+216_3463delinsATCCAAACACACCATGT
c.2927+216_3013delinsATCCAAACACACCATGT
c.2135+216_2221delinsATCCAAACACACCATGT
 ClinVar
8g.60849029T>CCA2579173741CHD7c.5301-22T>C (n.5301-22T>C)
c.1717-13200T>C (n.1717-13200T>C)
c.5391-22T>C (n.5391-22T>C)
c.3378-22T>C (n.3378-22T>C)
c.2928-22T>C (n.2928-22T>C)
c.2136-22T>C (n.2136-22T>C)
 gnomAD v4
8g.60849030C>GCA2687402665CHD7c.5301-21C>G (n.5301-21C>G)
c.1717-13199C>G (n.1717-13199C>G)
c.5391-21C>G (n.5391-21C>G)
c.3378-21C>G (n.3378-21C>G)
c.2928-21C>G (n.2928-21C>G)
c.2136-21C>G (n.2136-21C>G)
 gnomAD v4
8g.60849033A>GCA2687402666CHD7c.5301-18A>G (n.5301-18A>G)
c.1717-13196A>G (n.1717-13196A>G)
c.5391-18A>G (n.5391-18A>G)
c.3378-18A>G (n.3378-18A>G)
c.2928-18A>G (n.2928-18A>G)
c.2136-18A>G (n.2136-18A>G)
 gnomAD v4
8g.60849033_60849039delCA1114432494CHD7c.5301-18_5301-12del (n.5301-18_5301-12del)
c.1717-13196_1717-13190del (n.1717-13196_1717-13190del)
c.5391-18_5391-12del (n.5391-18_5391-12del)
c.3378-18_3378-12del (n.3378-18_3378-12del)
c.2928-18_2928-12del (n.2928-18_2928-12del)
c.2136-18_2136-12del (n.2136-18_2136-12del)
 gnomAD v3 gnomAD v4
8g.60849034T>ACA4760333CHD7c.5301-17T>A (n.5301-17T>A)
c.1717-13195T>A (n.1717-13195T>A)
c.5391-17T>A (n.5391-17T>A)
c.3378-17T>A (n.3378-17T>A)
c.2928-17T>A (n.2928-17T>A)
c.2136-17T>A (n.2136-17T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60849034T>CCA853908812CHD7c.5301-17T>C (n.5301-17T>C)
c.1717-13195T>C (n.1717-13195T>C)
c.5391-17T>C (n.5391-17T>C)
c.3378-17T>C (n.3378-17T>C)
c.2928-17T>C (n.2928-17T>C)
c.2136-17T>C (n.2136-17T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.60849034T=CA1788134589CHD7c.5301-17T= (n.5301-17T=)
c.1717-13195T= (n.1717-13195T=)
c.5391-17T= (n.5391-17T=)
c.3378-17T= (n.3378-17T=)
c.2928-17T= (n.2928-17T=)
c.2136-17T= (n.2136-17T=)
8g.60849034_60849035insTTAACA2687402667CHD7c.5301-17_5301-16insTTAA (n.5301-17_5301-16insTTAA)
c.1717-13195_1717-13194insTTAA (n.1717-13195_1717-13194insTTAA)
c.5391-17_5391-16insTTAA (n.5391-17_5391-16insTTAA)
c.3378-17_3378-16insTTAA (n.3378-17_3378-16insTTAA)
c.2928-17_2928-16insTTAA (n.2928-17_2928-16insTTAA)
c.2136-17_2136-16insTTAA (n.2136-17_2136-16insTTAA)
 gnomAD v4
8g.60849035A=CA1788134590CHD7c.5301-16A= (n.5301-16A=)
c.1717-13194A= (n.1717-13194A=)
c.5391-16A= (n.5391-16A=)
c.3378-16A= (n.3378-16A=)
c.2928-16A= (n.2928-16A=)
c.2136-16A= (n.2136-16A=)
8g.60849035A>CCA581980877CHD7c.5301-16A>C (n.5301-16A>C)
c.1717-13194A>C (n.1717-13194A>C)
c.5391-16A>C (n.5391-16A>C)
c.3378-16A>C (n.3378-16A>C)
c.2928-16A>C (n.2928-16A>C)
c.2136-16A>C (n.2136-16A>C)
 dbSNP gnomAD v2 gnomAD v4
8g.60849035A>GCA2687402668CHD7c.5301-16A>G (n.5301-16A>G)
c.1717-13194A>G (n.1717-13194A>G)
c.5391-16A>G (n.5391-16A>G)
c.3378-16A>G (n.3378-16A>G)
c.2928-16A>G (n.2928-16A>G)
c.2136-16A>G (n.2136-16A>G)
 gnomAD v4
8g.60849037delCA2579173742CHD7c.5301-14del (n.5301-14del)
c.1717-13192del (n.1717-13192del)
c.5391-14del (n.5391-14del)
c.3378-14del (n.3378-14del)
c.2928-14del (n.2928-14del)
c.2136-14del (n.2136-14del)
8g.60849038T>CCA4760334CHD7c.5301-13T>C (n.5301-13T>C)
c.1717-13191T>C (n.1717-13191T>C)
c.5391-13T>C (n.5391-13T>C)
c.3378-13T>C (n.3378-13T>C)
c.2928-13T>C (n.2928-13T>C)
c.2136-13T>C (n.2136-13T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60849038T=CA1788134591CHD7c.5301-13T= (n.5301-13T=)
c.1717-13191T= (n.1717-13191T=)
c.5391-13T= (n.5391-13T=)
c.3378-13T= (n.3378-13T=)
c.2928-13T= (n.2928-13T=)
c.2136-13T= (n.2136-13T=)
8g.60849041_60849043delCA2579173743CHD7c.5301-10_5301-8del (n.5301-10_5301-8del)
c.1717-13188_1717-13186del (n.1717-13188_1717-13186del)
c.5391-10_5391-8del (n.5391-10_5391-8del)
c.3378-10_3378-8del (n.3378-10_3378-8del)
c.2928-10_2928-8del (n.2928-10_2928-8del)
c.2136-10_2136-8del (n.2136-10_2136-8del)
 gnomAD v4
8g.60849039G>ACA4760335CHD7c.5301-12G>A (n.5301-12G>A)
c.1717-13190G>A (n.1717-13190G>A)
c.5391-12G>A (n.5391-12G>A)
c.3378-12G>A (n.3378-12G>A)
c.2928-12G>A (n.2928-12G>A)
c.2136-12G>A (n.2136-12G>A)
 dbSNP ExAC gnomAD v4
8g.60849039G=CA1788134592CHD7c.5301-12G= (n.5301-12G=)
c.1717-13190G= (n.1717-13190G=)
c.5391-12G= (n.5391-12G=)
c.3378-12G= (n.3378-12G=)
c.2928-12G= (n.2928-12G=)
c.2136-12G= (n.2136-12G=)
8g.60849040T>GCA1788134594CHD7c.5301-11T>G (n.5301-11T>G)
c.1717-13189T>G (n.1717-13189T>G)
c.5391-11T>G (n.5391-11T>G)
c.3378-11T>G (n.3378-11T>G)
c.2928-11T>G (n.2928-11T>G)
c.2136-11T>G (n.2136-11T>G)
 dbSNP
8g.60849040T=CA1788134593CHD7c.5301-11T= (n.5301-11T=)
c.1717-13189T= (n.1717-13189T=)
c.5391-11T= (n.5391-11T=)
c.3378-11T= (n.3378-11T=)
c.2928-11T= (n.2928-11T=)
c.2136-11T= (n.2136-11T=)
8g.60849041T>GCA2697546697CHD7c.5301-10T>G (n.5301-10T>G)
c.1717-13188T>G (n.1717-13188T>G)
c.5391-10T>G (n.5391-10T>G)
c.3378-10T>G (n.3378-10T>G)
c.2928-10T>G (n.2928-10T>G)
c.2136-10T>G (n.2136-10T>G)
 ClinVar
8g.60849042G>TCA1114432497CHD7c.5301-9G>T (n.5301-9G>T)
c.1717-13187G>T (n.1717-13187G>T)
c.5391-9G>T (n.5391-9G>T)
c.3378-9G>T (n.3378-9G>T)
c.2928-9G>T (n.2928-9G>T)
c.2136-9G>T (n.2136-9G>T)
 gnomAD v3 gnomAD v4
8g.60849042_60849043delinsGTCA1788134595CHD7c.5301-9_5301-8delinsGT (n.5301-9_5301-8delinsGT)
c.1717-13187_1717-13186delinsGT (n.1717-13187_1717-13186delinsGT)
c.5391-9_5391-8delinsGT (n.5391-9_5391-8delinsGT)
c.3378-9_3378-8delinsGT (n.3378-9_3378-8delinsGT)
c.2928-9_2928-8delinsGT (n.2928-9_2928-8delinsGT)
c.2136-9_2136-8delinsGT (n.2136-9_2136-8delinsGT)
8g.60849043delCA4760336CHD7c.5301-8del (n.5301-8del)
c.1717-13186del (n.1717-13186del)
c.5391-8del (n.5391-8del)
c.3378-8del (n.3378-8del)
c.2928-8del (n.2928-8del)
c.2136-8del (n.2136-8del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60849043T>ACA2687402669CHD7c.5301-8T>A (n.5301-8T>A)
c.1717-13186T>A (n.1717-13186T>A)
c.5391-8T>A (n.5391-8T>A)
c.3378-8T>A (n.3378-8T>A)
c.2928-8T>A (n.2928-8T>A)
c.2136-8T>A (n.2136-8T>A)
 gnomAD v4
8g.60849044C>ACA2687402670CHD7c.5301-7C>A (n.5301-7C>A)
c.1717-13185C>A (n.1717-13185C>A)
c.5391-7C>A (n.5391-7C>A)
c.3378-7C>A (n.3378-7C>A)
c.2928-7C>A (n.2928-7C>A)
c.2136-7C>A (n.2136-7C>A)
 gnomAD v4
8g.60849044C=CA1788134597CHD7c.5301-7C= (n.5301-7C=)
c.1717-13185C= (n.1717-13185C=)
c.5391-7C= (n.5391-7C=)
c.3378-7C= (n.3378-7C=)
c.2928-7C= (n.2928-7C=)
c.2136-7C= (n.2136-7C=)
8g.60849044C>TCA853908820CHD7c.5301-7C>T (n.5301-7C>T)
c.1717-13185C>T (n.1717-13185C>T)
c.5391-7C>T (n.5391-7C>T)
c.3378-7C>T (n.3378-7C>T)
c.2928-7C>T (n.2928-7C>T)
c.2136-7C>T (n.2136-7C>T)
 dbSNP gnomAD v3 gnomAD v4
8g.60849046T>GCA853908823CHD7c.5301-5T>G (n.5301-5T>G)
c.1717-13183T>G (n.1717-13183T>G)
c.5391-5T>G (n.5391-5T>G)
c.3378-5T>G (n.3378-5T>G)
c.2928-5T>G (n.2928-5T>G)
c.2136-5T>G (n.2136-5T>G)
 dbSNP gnomAD v3 gnomAD v4
8g.60849046T=CA1788134598CHD7c.5301-5T= (n.5301-5T=)
c.1717-13183T= (n.1717-13183T=)
c.5391-5T= (n.5391-5T=)
c.3378-5T= (n.3378-5T=)
c.2928-5T= (n.2928-5T=)
c.2136-5T= (n.2136-5T=)
8g.60849048C=CA1788134600CHD7c.5301-3C= (n.5301-3C=)
c.1717-13181C= (n.1717-13181C=)
c.5391-3C= (n.5391-3C=)
c.3378-3C= (n.3378-3C=)
c.2928-3C= (n.2928-3C=)
c.2136-3C= (n.2136-3C=)
8g.60849048C>TCA4760337CHD7c.5301-3C>T (n.5301-3C>T)
c.1717-13181C>T (n.1717-13181C>T)
c.5391-3C>T (n.5391-3C>T)
c.3378-3C>T (n.3378-3C>T)
c.2928-3C>T (n.2928-3C>T)
c.2136-3C>T (n.2136-3C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60849049A>CCA371320983CHD7c.5301-2A>C (n.5301-2A>C)
c.1717-13180A>C (n.1717-13180A>C)
c.5391-2A>C (n.5391-2A>C)
c.3378-2A>C (n.3378-2A>C)
c.2928-2A>C (n.2928-2A>C)
c.2136-2A>C (n.2136-2A>C)
8g.60849049A>GCA371320985CHD7c.5301-2A>G (n.5301-2A>G)
c.1717-13180A>G (n.1717-13180A>G)
c.5391-2A>G (n.5391-2A>G)
c.3378-2A>G (n.3378-2A>G)
c.2928-2A>G (n.2928-2A>G)
c.2136-2A>G (n.2136-2A>G)
8g.60849049A>TCA371320981CHD7c.5301-2A>T (n.5301-2A>T)
c.1717-13180A>T (n.1717-13180A>T)
c.5391-2A>T (n.5391-2A>T)
c.3378-2A>T (n.3378-2A>T)
c.2928-2A>T (n.2928-2A>T)
c.2136-2A>T (n.2136-2A>T)
8g.60849050G>ACA371320986CHD7c.5301-1G>A (n.5301-1G>A)
c.1717-13179G>A (n.1717-13179G>A)
c.5391-1G>A (n.5391-1G>A)
c.3378-1G>A (n.3378-1G>A)
c.2928-1G>A (n.2928-1G>A)
c.2136-1G>A (n.2136-1G>A)
8g.60849050G>CCA371320988CHD7c.5301-1G>C (n.5301-1G>C)
c.1717-13179G>C (n.1717-13179G>C)
c.5391-1G>C (n.5391-1G>C)
c.3378-1G>C (n.3378-1G>C)
c.2928-1G>C (n.2928-1G>C)
c.2136-1G>C (n.2136-1G>C)
8g.60849050G>TCA371320989CHD7c.5301-1G>T (n.5301-1G>T)
c.1717-13179G>T (n.1717-13179G>T)
c.5391-1G>T (n.5391-1G>T)
c.3378-1G>T (n.3378-1G>T)
c.2928-1G>T (n.2928-1G>T)
c.2136-1G>T (n.2136-1G>T)
8g.60849051T>ACA371320991CHD7c.5301T>A (p.Ser1767Arg)
c.1717-13178T>A (n.1717-13178T>A)
c.5391T>A (p.Ser1797Arg)
c.3378T>A (p.Ser1126Arg)
c.2928T>A (p.Ser976Arg)
c.2136T>A (p.Ser712Arg)
8g.60849051T>CCA460848427CHD7c.5301T>C (p.Ser1767=)
c.1717-13178T>C (n.1717-13178T>C)
c.5391T>C (p.Ser1797=)
c.3378T>C (p.Ser1126=)
c.2928T>C (p.Ser976=)
c.2136T>C (p.Ser712=)
8g.60849051T>GCA371320993CHD7c.5301T>G (p.Ser1767Arg)
c.1717-13178T>G (n.1717-13178T>G)
c.5391T>G (p.Ser1797Arg)
c.3378T>G (p.Ser1126Arg)
c.2928T>G (p.Ser976Arg)
c.2136T>G (p.Ser712Arg)
 gnomAD v4
8g.60849052G>ACA371320994CHD7c.5302G>A (p.Glu1768Lys)
c.1717-13177G>A (n.1717-13177G>A)
c.5392G>A (p.Glu1798Lys)
c.3379G>A (p.Glu1127Lys)
c.2929G>A (p.Glu977Lys)
c.2137G>A (p.Glu713Lys)
8g.60849052G>CCA371320996CHD7c.5302G>C (p.Glu1768Gln)
c.1717-13177G>C (n.1717-13177G>C)
c.5392G>C (p.Glu1798Gln)
c.3379G>C (p.Glu1127Gln)
c.2929G>C (p.Glu977Gln)
c.2137G>C (p.Glu713Gln)
8g.60849052G>TCA371320997CHD7c.5302G>T (p.Glu1768Ter)
c.1717-13177G>T (n.1717-13177G>T)
c.5392G>T (p.Glu1798Ter)
c.3379G>T (p.Glu1127Ter)
c.2929G>T (p.Glu977Ter)
c.2137G>T (p.Glu713Ter)
8g.60849053A>CCA371320999CHD7c.5303A>C (p.Glu1768Ala)
c.1717-13176A>C (n.1717-13176A>C)
c.5393A>C (p.Glu1798Ala)
c.3380A>C (p.Glu1127Ala)
c.2930A>C (p.Glu977Ala)
c.2138A>C (p.Glu713Ala)
8g.60849053A>GCA371321000CHD7c.5303A>G (p.Glu1768Gly)
c.1717-13176A>G (n.1717-13176A>G)
c.5393A>G (p.Glu1798Gly)
c.3380A>G (p.Glu1127Gly)
c.2930A>G (p.Glu977Gly)
c.2138A>G (p.Glu713Gly)
8g.60849053A>TCA371321002CHD7c.5303A>T (p.Glu1768Val)
c.1717-13176A>T (n.1717-13176A>T)
c.5393A>T (p.Glu1798Val)
c.3380A>T (p.Glu1127Val)
c.2930A>T (p.Glu977Val)
c.2138A>T (p.Glu713Val)
8g.60849054A=CA1788134601CHD7c.5304A= (p.Glu1768=)
c.1717-13175A= (n.1717-13175A=)
c.5394A= (p.Glu1798=)
c.3381A= (p.Glu1127=)
c.2931A= (p.Glu977=)
c.2139A= (p.Glu713=)
8g.60849054A>CCA371321004CHD7c.5304A>C (p.Glu1768Asp)
c.1717-13175A>C (n.1717-13175A>C)
c.5394A>C (p.Glu1798Asp)
c.3381A>C (p.Glu1127Asp)
c.2931A>C (p.Glu977Asp)
c.2139A>C (p.Glu713Asp)
8g.60849054A>GCA460848428CHD7c.5304A>G (p.Glu1768=)
c.1717-13175A>G (n.1717-13175A>G)
c.5394A>G (p.Glu1798=)
c.3381A>G (p.Glu1127=)
c.2931A>G (p.Glu977=)
c.2139A>G (p.Glu713=)
8g.60849054A>TCA371321005CHD7c.5304A>T (p.Glu1768Asp)
c.1717-13175A>T (n.1717-13175A>T)
c.5394A>T (p.Glu1798Asp)
c.3381A>T (p.Glu1127Asp)
c.2931A>T (p.Glu977Asp)
c.2139A>T (p.Glu713Asp)
 dbSNP gnomAD v4
8g.60849055G>ACA371321009CHD7c.5305G>A (p.Ala1769Thr)
c.1717-13174G>A (n.1717-13174G>A)
c.5395G>A (p.Ala1799Thr)
c.3382G>A (p.Ala1128Thr)
c.2932G>A (p.Ala978Thr)
c.2140G>A (p.Ala714Thr)
8g.60849055G>CCA371321008CHD7c.5305G>C (p.Ala1769Pro)
c.1717-13174G>C (n.1717-13174G>C)
c.5395G>C (p.Ala1799Pro)
c.3382G>C (p.Ala1128Pro)
c.2932G>C (p.Ala978Pro)
c.2140G>C (p.Ala714Pro)
8g.60849055G>TCA371321006CHD7c.5305G>T (p.Ala1769Ser)
c.1717-13174G>T (n.1717-13174G>T)
c.5395G>T (p.Ala1799Ser)
c.3382G>T (p.Ala1128Ser)
c.2932G>T (p.Ala978Ser)
c.2140G>T (p.Ala714Ser)
8g.60849056C>ACA371321011CHD7c.5306C>A (p.Ala1769Asp)
c.1717-13173C>A (n.1717-13173C>A)
c.5396C>A (p.Ala1799Asp)
c.3383C>A (p.Ala1128Asp)
c.2933C>A (p.Ala978Asp)
c.2141C>A (p.Ala714Asp)
8g.60849056C>GCA371321013CHD7c.5306C>G (p.Ala1769Gly)
c.1717-13173C>G (n.1717-13173C>G)
c.5396C>G (p.Ala1799Gly)
c.3383C>G (p.Ala1128Gly)
c.2933C>G (p.Ala978Gly)
c.2141C>G (p.Ala714Gly)
8g.60849056C>TCA371321014CHD7c.5306C>T (p.Ala1769Val)
c.1717-13173C>T (n.1717-13173C>T)
c.5396C>T (p.Ala1799Val)
c.3383C>T (p.Ala1128Val)
c.2933C>T (p.Ala978Val)
c.2141C>T (p.Ala714Val)
8g.60849057delCA460848429CHD7c.5307del (p.Asp1770MetfsTer26)
c.1717-13172del (n.1717-13172del)
c.5397del (p.Asp1800MetfsTer26)
c.3384del (p.Asp1129MetfsTer26)
c.2934del (p.Asp979MetfsTer26)
c.2142del (p.Asp715MetfsTer26)
 COSMIC
8g.60849057C>ACA460848430CHD7c.5307C>A (p.Ala1769=)
c.1717-13172C>A (n.1717-13172C>A)
c.5397C>A (p.Ala1799=)
c.3384C>A (p.Ala1128=)
c.2934C>A (p.Ala978=)
c.2142C>A (p.Ala714=)
8g.60849057C=CA1788134606CHD7c.5307C= (p.Ala1769=)
c.1717-13172C= (n.1717-13172C=)
c.5397C= (p.Ala1799=)
c.3384C= (p.Ala1128=)
c.2934C= (p.Ala978=)
c.2142C= (p.Ala714=)
8g.60849057C>GCA460848431CHD7c.5307C>G (p.Ala1769=)
c.1717-13172C>G (n.1717-13172C>G)
c.5397C>G (p.Ala1799=)
c.3384C>G (p.Ala1128=)
c.2934C>G (p.Ala978=)
c.2142C>G (p.Ala714=)
 dbSNP
8g.60849057C>TCA148863CHD7c.5307C>T (p.Ala1769=)
c.1717-13172C>T (n.1717-13172C>T)
c.5397C>T (p.Ala1799=)
c.3384C>T (p.Ala1128=)
c.2934C>T (p.Ala978=)
c.2142C>T (p.Ala714=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60849058G>ACA4760338CHD7c.5308G>A (p.Asp1770Asn)
c.1717-13171G>A (n.1717-13171G>A)
c.5398G>A (p.Asp1800Asn)
c.3385G>A (p.Asp1129Asn)
c.2935G>A (p.Asp979Asn)
c.2143G>A (p.Asp715Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60849058G>CCA371321016CHD7c.5308G>C (p.Asp1770His)
c.1717-13171G>C (n.1717-13171G>C)
c.5398G>C (p.Asp1800His)
c.3385G>C (p.Asp1129His)
c.2935G>C (p.Asp979His)
c.2143G>C (p.Asp715His)
8g.60849058G=CA1788134622CHD7c.5308G= (p.Asp1770=)
c.1717-13171G= (n.1717-13171G=)
c.5398G= (p.Asp1800=)
c.3385G= (p.Asp1129=)
c.2935G= (p.Asp979=)
c.2143G= (p.Asp715=)
8g.60849058G>TCA371321017CHD7c.5308G>T (p.Asp1770Tyr)
c.1717-13171G>T (n.1717-13171G>T)
c.5398G>T (p.Asp1800Tyr)
c.3385G>T (p.Asp1129Tyr)
c.2935G>T (p.Asp979Tyr)
c.2143G>T (p.Asp715Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.60849059A=CA1788134642CHD7c.5309A= (p.Asp1770=)
c.1717-13170A= (n.1717-13170A=)
c.5399A= (p.Asp1800=)
c.3386A= (p.Asp1129=)
c.2936A= (p.Asp979=)
c.2144A= (p.Asp715=)
8g.60849059A>CCA371321019CHD7c.5309A>C (p.Asp1770Ala)
c.1717-13170A>C (n.1717-13170A>C)
c.5399A>C (p.Asp1800Ala)
c.3386A>C (p.Asp1129Ala)
c.2936A>C (p.Asp979Ala)
c.2144A>C (p.Asp715Ala)
8g.60849059A>GCA4760339CHD7c.5309A>G (p.Asp1770Gly)
c.1717-13170A>G (n.1717-13170A>G)
c.5399A>G (p.Asp1800Gly)
c.3386A>G (p.Asp1129Gly)
c.2936A>G (p.Asp979Gly)
c.2144A>G (p.Asp715Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60849059A>TCA371321021CHD7c.5309A>T (p.Asp1770Val)
c.1717-13170A>T (n.1717-13170A>T)
c.5399A>T (p.Asp1800Val)
c.3386A>T (p.Asp1129Val)
c.2936A>T (p.Asp979Val)
c.2144A>T (p.Asp715Val)
8g.60849060T>ACA371321023CHD7c.5310T>A (p.Asp1770Glu)
c.1717-13169T>A (n.1717-13169T>A)
c.5400T>A (p.Asp1800Glu)
c.3387T>A (p.Asp1129Glu)
c.2937T>A (p.Asp979Glu)
c.2145T>A (p.Asp715Glu)
8g.60849060T>CCA242565CHD7c.5310T>C (p.Asp1770=)
c.1717-13169T>C (n.1717-13169T>C)
c.5400T>C (p.Asp1800=)
c.3387T>C (p.Asp1129=)
c.2937T>C (p.Asp979=)
c.2145T>C (p.Asp715=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60849060T>GCA371321024CHD7c.5310T>G (p.Asp1770Glu)
c.1717-13169T>G (n.1717-13169T>G)
c.5400T>G (p.Asp1800Glu)
c.3387T>G (p.Asp1129Glu)
c.2937T>G (p.Asp979Glu)
c.2145T>G (p.Asp715Glu)
8g.60849060T=CA1788134646CHD7c.5310T= (p.Asp1770=)
c.1717-13169T= (n.1717-13169T=)
c.5400T= (p.Asp1800=)
c.3387T= (p.Asp1129=)
c.2937T= (p.Asp979=)
c.2145T= (p.Asp715=)
8g.60849061G>ACA371321029CHD7c.5311G>A (p.Val1771Met)
c.1717-13168G>A (n.1717-13168G>A)
c.5401G>A (p.Val1801Met)
c.3388G>A (p.Val1130Met)
c.2938G>A (p.Val980Met)
c.2146G>A (p.Val716Met)
 dbSNP gnomAD v3 gnomAD v4
8g.60849061G>CCA371321028CHD7c.5311G>C (p.Val1771Leu)
c.1717-13168G>C (n.1717-13168G>C)
c.5401G>C (p.Val1801Leu)
c.3388G>C (p.Val1130Leu)
c.2938G>C (p.Val980Leu)
c.2146G>C (p.Val716Leu)
8g.60849061G>TCA371321026CHD7c.5311G>T (p.Val1771Leu)
c.1717-13168G>T (n.1717-13168G>T)
c.5401G>T (p.Val1801Leu)
c.3388G>T (p.Val1130Leu)
c.2938G>T (p.Val980Leu)
c.2146G>T (p.Val716Leu)
8g.60849062T>ACA371321032CHD7c.5312T>A (p.Val1771Glu)
c.1717-13167T>A (n.1717-13167T>A)
c.5402T>A (p.Val1801Glu)
c.3389T>A (p.Val1130Glu)
c.2939T>A (p.Val980Glu)
c.2147T>A (p.Val716Glu)
8g.60849062T>CCA371321031CHD7c.5312T>C (p.Val1771Ala)
c.1717-13167T>C (n.1717-13167T>C)
c.5402T>C (p.Val1801Ala)
c.3389T>C (p.Val1130Ala)
c.2939T>C (p.Val980Ala)
c.2147T>C (p.Val716Ala)
 dbSNP
8g.60849062T>GCA371321034CHD7c.5312T>G (p.Val1771Gly)
c.1717-13167T>G (n.1717-13167T>G)
c.5402T>G (p.Val1801Gly)
c.3389T>G (p.Val1130Gly)
c.2939T>G (p.Val980Gly)
c.2147T>G (p.Val716Gly)
8g.60849062T=CA1788134653CHD7c.5312T= (p.Val1771=)
c.1717-13167T= (n.1717-13167T=)
c.5402T= (p.Val1801=)
c.3389T= (p.Val1130=)
c.2939T= (p.Val980=)
c.2147T= (p.Val716=)
8g.60849063G>ACA460848432CHD7c.5313G>A (p.Val1771=)
c.1717-13166G>A (n.1717-13166G>A)
c.5403G>A (p.Val1801=)
c.3390G>A (p.Val1130=)
c.2940G>A (p.Val980=)
c.2148G>A (p.Val716=)
 ClinVar
8g.60849063G>CCA460848433CHD7c.5313G>C (p.Val1771=)
c.1717-13166G>C (n.1717-13166G>C)
c.5403G>C (p.Val1801=)
c.3390G>C (p.Val1130=)
c.2940G>C (p.Val980=)
c.2148G>C (p.Val716=)
8g.60849063G>TCA460848434CHD7c.5313G>T (p.Val1771=)
c.1717-13166G>T (n.1717-13166G>T)
c.5403G>T (p.Val1801=)
c.3390G>T (p.Val1130=)
c.2940G>T (p.Val980=)
c.2148G>T (p.Val716=)
8g.60849064T>ACA371321036CHD7c.5314T>A (p.Trp1772Arg)
c.1717-13165T>A (n.1717-13165T>A)
c.5404T>A (p.Trp1802Arg)
c.3391T>A (p.Trp1131Arg)
c.2941T>A (p.Trp981Arg)
c.2149T>A (p.Trp717Arg)
8g.60849064T>CCA371321037CHD7c.5314T>C (p.Trp1772Arg)
c.1717-13165T>C (n.1717-13165T>C)
c.5404T>C (p.Trp1802Arg)
c.3391T>C (p.Trp1131Arg)
c.2941T>C (p.Trp981Arg)
c.2149T>C (p.Trp717Arg)
8g.60849064T>GCA371321039CHD7c.5314T>G (p.Trp1772Gly)
c.1717-13165T>G (n.1717-13165T>G)
c.5404T>G (p.Trp1802Gly)
c.3391T>G (p.Trp1131Gly)
c.2941T>G (p.Trp981Gly)
c.2149T>G (p.Trp717Gly)
8g.60849065G>ACA16042644CHD7c.5315G>A (p.Trp1772Ter)
c.1717-13164G>A (n.1717-13164G>A)
c.5405G>A (p.Trp1802Ter)
c.3392G>A (p.Trp1131Ter)
c.2942G>A (p.Trp981Ter)
c.2150G>A (p.Trp717Ter)
 ClinVar dbSNP
8g.60849065G>CCA371321041CHD7c.5315G>C (p.Trp1772Ser)
c.1717-13164G>C (n.1717-13164G>C)
c.5405G>C (p.Trp1802Ser)
c.3392G>C (p.Trp1131Ser)
c.2942G>C (p.Trp981Ser)
c.2150G>C (p.Trp717Ser)
8g.60849065G=CA1788134660CHD7c.5315G= (p.Trp1772=)
c.1717-13164G= (n.1717-13164G=)
c.5405G= (p.Trp1802=)
c.3392G= (p.Trp1131=)
c.2942G= (p.Trp981=)
c.2150G= (p.Trp717=)
8g.60849065G>TCA371321043CHD7c.5315G>T (p.Trp1772Leu)
c.1717-13164G>T (n.1717-13164G>T)
c.5405G>T (p.Trp1802Leu)
c.3392G>T (p.Trp1131Leu)
c.2942G>T (p.Trp981Leu)
c.2150G>T (p.Trp717Leu)
8g.60849066G>ACA371321044CHD7c.5316G>A (p.Trp1772Ter)
c.1717-13163G>A (n.1717-13163G>A)
c.5406G>A (p.Trp1802Ter)
c.3393G>A (p.Trp1131Ter)
c.2943G>A (p.Trp981Ter)
c.2151G>A (p.Trp717Ter)
 COSMIC
8g.60849066G>CCA371321045CHD7c.5316G>C (p.Trp1772Cys)
c.1717-13163G>C (n.1717-13163G>C)
c.5406G>C (p.Trp1802Cys)
c.3393G>C (p.Trp1131Cys)
c.2943G>C (p.Trp981Cys)
c.2151G>C (p.Trp717Cys)
8g.60849066G>TCA371321047CHD7c.5316G>T (p.Trp1772Cys)
c.1717-13163G>T (n.1717-13163G>T)
c.5406G>T (p.Trp1802Cys)
c.3393G>T (p.Trp1131Cys)
c.2943G>T (p.Trp981Cys)
c.2151G>T (p.Trp717Cys)
 gnomAD v4
8g.60849067A>CCA371321049CHD7c.5317A>C (p.Ile1773Leu)
c.1717-13162A>C (n.1717-13162A>C)
c.5407A>C (p.Ile1803Leu)
c.3394A>C (p.Ile1132Leu)
c.2944A>C (p.Ile982Leu)
c.2152A>C (p.Ile718Leu)
8g.60849067A>GCA371321051CHD7c.5317A>G (p.Ile1773Val)
c.1717-13162A>G (n.1717-13162A>G)
c.5407A>G (p.Ile1803Val)
c.3394A>G (p.Ile1132Val)
c.2944A>G (p.Ile982Val)
c.2152A>G (p.Ile718Val)
8g.60849067A>TCA371321052CHD7c.5317A>T (p.Ile1773Phe)
c.1717-13162A>T (n.1717-13162A>T)
c.5407A>T (p.Ile1803Phe)
c.3394A>T (p.Ile1132Phe)
c.2944A>T (p.Ile982Phe)
c.2152A>T (p.Ile718Phe)
 gnomAD v4
8g.60849068T>ACA371321057CHD7c.5318T>A (p.Ile1773Asn)
c.1717-13161T>A (n.1717-13161T>A)
c.5408T>A (p.Ile1803Asn)
c.3395T>A (p.Ile1132Asn)
c.2945T>A (p.Ile982Asn)
c.2153T>A (p.Ile718Asn)
 dbSNP
8g.60849068T>CCA371321056CHD7c.5318T>C (p.Ile1773Thr)
c.1717-13161T>C (n.1717-13161T>C)
c.5408T>C (p.Ile1803Thr)
c.3395T>C (p.Ile1132Thr)
c.2945T>C (p.Ile982Thr)
c.2153T>C (p.Ile718Thr)
8g.60849068T>GCA371321054CHD7c.5318T>G (p.Ile1773Ser)
c.1717-13161T>G (n.1717-13161T>G)
c.5408T>G (p.Ile1803Ser)
c.3395T>G (p.Ile1132Ser)
c.2945T>G (p.Ile982Ser)
c.2153T>G (p.Ile718Ser)
8g.60849068T=CA1788134664CHD7c.5318T= (p.Ile1773=)
c.1717-13161T= (n.1717-13161T=)
c.5408T= (p.Ile1803=)
c.3395T= (p.Ile1132=)
c.2945T= (p.Ile982=)
c.2153T= (p.Ile718=)
8g.60849069C>ACA460848436CHD7c.5319C>A (p.Ile1773=)
c.1717-13160C>A (n.1717-13160C>A)
c.5409C>A (p.Ile1803=)
c.3396C>A (p.Ile1132=)
c.2946C>A (p.Ile982=)
c.2154C>A (p.Ile718=)
 dbSNP gnomAD v4
8g.60849069C=CA1788134668CHD7c.5319C= (p.Ile1773=)
c.1717-13160C= (n.1717-13160C=)
c.5409C= (p.Ile1803=)
c.3396C= (p.Ile1132=)
c.2946C= (p.Ile982=)
c.2154C= (p.Ile718=)
8g.60849069C>GCA371321058CHD7c.5319C>G (p.Ile1773Met)
c.1717-13160C>G (n.1717-13160C>G)
c.5409C>G (p.Ile1803Met)
c.3396C>G (p.Ile1132Met)
c.2946C>G (p.Ile982Met)
c.2154C>G (p.Ile718Met)
8g.60849069C>TCA460848435CHD7c.5319C>T (p.Ile1773=)
c.1717-13160C>T (n.1717-13160C>T)
c.5409C>T (p.Ile1803=)
c.3396C>T (p.Ile1132=)
c.2946C>T (p.Ile982=)
c.2154C>T (p.Ile718=)
8g.60849070C>ACA371321059CHD7c.5320C>A (p.Pro1774Thr)
c.1717-13159C>A (n.1717-13159C>A)
c.5410C>A (p.Pro1804Thr)
c.3397C>A (p.Pro1133Thr)
c.2947C>A (p.Pro983Thr)
c.2155C>A (p.Pro719Thr)
8g.60849070C>GCA371321061CHD7c.5320C>G (p.Pro1774Ala)
c.1717-13159C>G (n.1717-13159C>G)
c.5410C>G (p.Pro1804Ala)
c.3397C>G (p.Pro1133Ala)
c.2947C>G (p.Pro983Ala)
c.2155C>G (p.Pro719Ala)
8g.60849070C>TCA371321063CHD7c.5320C>T (p.Pro1774Ser)
c.1717-13159C>T (n.1717-13159C>T)
c.5410C>T (p.Pro1804Ser)
c.3397C>T (p.Pro1133Ser)
c.2947C>T (p.Pro983Ser)
c.2155C>T (p.Pro719Ser)
 COSMIC
8g.60849071C>ACA371321064CHD7c.5321C>A (p.Pro1774His)
c.1717-13158C>A (n.1717-13158C>A)
c.5411C>A (p.Pro1804His)
c.3398C>A (p.Pro1133His)
c.2948C>A (p.Pro983His)
c.2156C>A (p.Pro719His)
8g.60849071C>GCA371321065CHD7c.5321C>G (p.Pro1774Arg)
c.1717-13158C>G (n.1717-13158C>G)
c.5411C>G (p.Pro1804Arg)
c.3398C>G (p.Pro1133Arg)
c.2948C>G (p.Pro983Arg)
c.2156C>G (p.Pro719Arg)
8g.60849071C>TCA371321067CHD7c.5321C>T (p.Pro1774Leu)
c.1717-13158C>T (n.1717-13158C>T)
c.5411C>T (p.Pro1804Leu)
c.3398C>T (p.Pro1133Leu)
c.2948C>T (p.Pro983Leu)
c.2156C>T (p.Pro719Leu)
8g.60849072T>ACA460848439CHD7c.5322T>A (p.Pro1774=)
c.1717-13157T>A (n.1717-13157T>A)
c.5412T>A (p.Pro1804=)
c.3399T>A (p.Pro1133=)
c.2949T>A (p.Pro983=)
c.2157T>A (p.Pro719=)
8g.60849072T>CCA460848438CHD7c.5322T>C (p.Pro1774=)
c.1717-13157T>C (n.1717-13157T>C)
c.5412T>C (p.Pro1804=)
c.3399T>C (p.Pro1133=)
c.2949T>C (p.Pro983=)
c.2157T>C (p.Pro719=)
8g.60849072T>GCA460848437CHD7c.5322T>G (p.Pro1774=)
c.1717-13157T>G (n.1717-13157T>G)
c.5412T>G (p.Pro1804=)
c.3399T>G (p.Pro1133=)
c.2949T>G (p.Pro983=)
c.2157T>G (p.Pro719=)
8g.60849073G>ACA371321068CHD7c.5323G>A (p.Glu1775Lys)
c.1717-13156G>A (n.1717-13156G>A)
c.5413G>A (p.Glu1805Lys)
c.3400G>A (p.Glu1134Lys)
c.2950G>A (p.Glu984Lys)
c.2158G>A (p.Glu720Lys)
 dbSNP gnomAD v2 gnomAD v4
8g.60849073G>CCA371321070CHD7c.5323G>C (p.Glu1775Gln)
c.1717-13156G>C (n.1717-13156G>C)
c.5413G>C (p.Glu1805Gln)
c.3400G>C (p.Glu1134Gln)
c.2950G>C (p.Glu984Gln)
c.2158G>C (p.Glu720Gln)
8g.60849073G=CA1788134672CHD7c.5323G= (p.Glu1775=)
c.1717-13156G= (n.1717-13156G=)
c.5413G= (p.Glu1805=)
c.3400G= (p.Glu1134=)
c.2950G= (p.Glu984=)
c.2158G= (p.Glu720=)
8g.60849073G>TCA371321071CHD7c.5323G>T (p.Glu1775Ter)
c.1717-13156G>T (n.1717-13156G>T)
c.5413G>T (p.Glu1805Ter)
c.3400G>T (p.Glu1134Ter)
c.2950G>T (p.Glu984Ter)
c.2158G>T (p.Glu720Ter)
8g.60849074A>CCA371321073CHD7c.5324A>C (p.Glu1775Ala)
c.1717-13155A>C (n.1717-13155A>C)
c.5414A>C (p.Glu1805Ala)
c.3401A>C (p.Glu1134Ala)
c.2951A>C (p.Glu984Ala)
c.2159A>C (p.Glu720Ala)
8g.60849074A>GCA371321074CHD7c.5324A>G (p.Glu1775Gly)
c.1717-13155A>G (n.1717-13155A>G)
c.5414A>G (p.Glu1805Gly)
c.3401A>G (p.Glu1134Gly)
c.2951A>G (p.Glu984Gly)
c.2159A>G (p.Glu720Gly)
8g.60849074A>TCA371321075CHD7c.5324A>T (p.Glu1775Val)
c.1717-13155A>T (n.1717-13155A>T)
c.5414A>T (p.Glu1805Val)
c.3401A>T (p.Glu1134Val)
c.2951A>T (p.Glu984Val)
c.2159A>T (p.Glu720Val)
8g.60849075A=CA1788134688CHD7c.5325A= (p.Glu1775=)
c.1717-13154A= (n.1717-13154A=)
c.5415A= (p.Glu1805=)
c.3402A= (p.Glu1134=)
c.2952A= (p.Glu984=)
c.2160A= (p.Glu720=)
8g.60849075A>CCA371321076CHD7c.5325A>C (p.Glu1775Asp)
c.1717-13154A>C (n.1717-13154A>C)
c.5415A>C (p.Glu1805Asp)
c.3402A>C (p.Glu1134Asp)
c.2952A>C (p.Glu984Asp)
c.2160A>C (p.Glu720Asp)
8g.60849075A>GCA460848440CHD7c.5325A>G (p.Glu1775=)
c.1717-13154A>G (n.1717-13154A>G)
c.5415A>G (p.Glu1805=)
c.3402A>G (p.Glu1134=)
c.2952A>G (p.Glu984=)
c.2160A>G (p.Glu720=)
 dbSNP gnomAD v2 gnomAD v4
8g.60849075A>TCA371321077CHD7c.5325A>T (p.Glu1775Asp)
c.1717-13154A>T (n.1717-13154A>T)
c.5415A>T (p.Glu1805Asp)
c.3402A>T (p.Glu1134Asp)
c.2952A>T (p.Glu984Asp)
c.2160A>T (p.Glu720Asp)
8g.60849076C>ACA371321079CHD7c.5326C>A (p.Pro1776Thr)
c.1717-13153C>A (n.1717-13153C>A)
c.5416C>A (p.Pro1806Thr)
c.3403C>A (p.Pro1135Thr)
c.2953C>A (p.Pro985Thr)
c.2161C>A (p.Pro721Thr)
8g.60849076C>GCA371321080CHD7c.5326C>G (p.Pro1776Ala)
c.1717-13153C>G (n.1717-13153C>G)
c.5416C>G (p.Pro1806Ala)
c.3403C>G (p.Pro1135Ala)
c.2953C>G (p.Pro985Ala)
c.2161C>G (p.Pro721Ala)
8g.60849076C>TCA371321081CHD7c.5326C>T (p.Pro1776Ser)
c.1717-13153C>T (n.1717-13153C>T)
c.5416C>T (p.Pro1806Ser)
c.3403C>T (p.Pro1135Ser)
c.2953C>T (p.Pro985Ser)
c.2161C>T (p.Pro721Ser)
8g.60849077C>ACA371321082CHD7c.5327C>A (p.Pro1776His)
c.1717-13152C>A (n.1717-13152C>A)
c.5417C>A (p.Pro1806His)
c.3404C>A (p.Pro1135His)
c.2954C>A (p.Pro985His)
c.2162C>A (p.Pro721His)
8g.60849077C=CA1788134693CHD7c.5327C= (p.Pro1776=)
c.1717-13152C= (n.1717-13152C=)
c.5417C= (p.Pro1806=)
c.3404C= (p.Pro1135=)
c.2954C= (p.Pro985=)
c.2162C= (p.Pro721=)
8g.60849077C>GCA371321083CHD7c.5327C>G (p.Pro1776Arg)
c.1717-13152C>G (n.1717-13152C>G)
c.5417C>G (p.Pro1806Arg)
c.3404C>G (p.Pro1135Arg)
c.2954C>G (p.Pro985Arg)
c.2162C>G (p.Pro721Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.60849077C>TCA4760340CHD7c.5327C>T (p.Pro1776Leu)
c.1717-13152C>T (n.1717-13152C>T)
c.5417C>T (p.Pro1806Leu)
c.3404C>T (p.Pro1135Leu)
c.2954C>T (p.Pro985Leu)
c.2162C>T (p.Pro721Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60849077_60849078delinsCTCA1788134696CHD7c.5327_5328delinsCT (p.Pro1776=)
c.1717-13152_1717-13151delinsCT (n.1717-13152_1717-13151delinsCT)
c.5417_5418delinsCT (p.Pro1806=)
c.3404_3405delinsCT (p.Pro1135=)
c.2954_2955delinsCT (p.Pro985=)
c.2162_2163delinsCT (p.Pro721=)
8g.60849078T>ACA460848441CHD7c.5328T>A (p.Pro1776=)
c.1717-13151T>A (n.1717-13151T>A)
c.5418T>A (p.Pro1806=)
c.3405T>A (p.Pro1135=)
c.2955T>A (p.Pro985=)
c.2163T>A (p.Pro721=)
8g.60849078T>CCA460848442CHD7c.5328T>C (p.Pro1776=)
c.1717-13151T>C (n.1717-13151T>C)
c.5418T>C (p.Pro1806=)
c.3405T>C (p.Pro1135=)
c.2955T>C (p.Pro985=)
c.2163T>C (p.Pro721=)
8g.60849078T>GCA460848443CHD7c.5328T>G (p.Pro1776=)
c.1717-13151T>G (n.1717-13151T>G)
c.5418T>G (p.Pro1806=)
c.3405T>G (p.Pro1135=)
c.2955T>G (p.Pro985=)
c.2163T>G (p.Pro721=)
8g.60849080delCA916080392CHD7c.5330del (p.Phe1777SerfsTer19)
c.1717-13149del (n.1717-13149del)
c.5420del (p.Phe1807SerfsTer19)
c.3407del (p.Phe1136SerfsTer19)
c.2957del (p.Phe986SerfsTer19)
c.2165del (p.Phe722SerfsTer19)
 ClinVar dbSNP
8g.60849079T>ACA371321089CHD7c.5329T>A (p.Phe1777Ile)
c.1717-13150T>A (n.1717-13150T>A)
c.5419T>A (p.Phe1807Ile)
c.3406T>A (p.Phe1136Ile)
c.2956T>A (p.Phe986Ile)
c.2164T>A (p.Phe722Ile)
8g.60849079T>CCA371321086CHD7c.5329T>C (p.Phe1777Leu)
c.1717-13150T>C (n.1717-13150T>C)
c.5419T>C (p.Phe1807Leu)
c.3406T>C (p.Phe1136Leu)
c.2956T>C (p.Phe986Leu)
c.2164T>C (p.Phe722Leu)
 gnomAD v4
8g.60849079T>GCA371321087CHD7c.5329T>G (p.Phe1777Val)
c.1717-13150T>G (n.1717-13150T>G)
c.5419T>G (p.Phe1807Val)
c.3406T>G (p.Phe1136Val)
c.2956T>G (p.Phe986Val)
c.2164T>G (p.Phe722Val)
8g.60849080T>ACA371321090CHD7c.5330T>A (p.Phe1777Tyr)
c.1717-13149T>A (n.1717-13149T>A)
c.5420T>A (p.Phe1807Tyr)
c.3407T>A (p.Phe1136Tyr)
c.2957T>A (p.Phe986Tyr)
c.2165T>A (p.Phe722Tyr)
8g.60849080T>CCA371321091CHD7c.5330T>C (p.Phe1777Ser)
c.1717-13149T>C (n.1717-13149T>C)
c.5420T>C (p.Phe1807Ser)
c.3407T>C (p.Phe1136Ser)
c.2957T>C (p.Phe986Ser)
c.2165T>C (p.Phe722Ser)
8g.60849080T>GCA371321093CHD7c.5330T>G (p.Phe1777Cys)
c.1717-13149T>G (n.1717-13149T>G)
c.5420T>G (p.Phe1807Cys)
c.3407T>G (p.Phe1136Cys)
c.2957T>G (p.Phe986Cys)
c.2165T>G (p.Phe722Cys)
 ClinVar
8g.60849081C>ACA371321094CHD7c.5331C>A (p.Phe1777Leu)
c.1717-13148C>A (n.1717-13148C>A)
c.5421C>A (p.Phe1807Leu)
c.3408C>A (p.Phe1136Leu)
c.2958C>A (p.Phe986Leu)
c.2166C>A (p.Phe722Leu)
8g.60849081C=CA1788134706CHD7c.5331C= (p.Phe1777=)
c.1717-13148C= (n.1717-13148C=)
c.5421C= (p.Phe1807=)
c.3408C= (p.Phe1136=)
c.2958C= (p.Phe986=)
c.2166C= (p.Phe722=)
8g.60849081C>GCA371321095CHD7c.5331C>G (p.Phe1777Leu)
c.1717-13148C>G (n.1717-13148C>G)
c.5421C>G (p.Phe1807Leu)
c.3408C>G (p.Phe1136Leu)
c.2958C>G (p.Phe986Leu)
c.2166C>G (p.Phe722Leu)
8g.60849081C>TCA177352585CHD7c.5331C>T (p.Phe1777=)
c.1717-13148C>T (n.1717-13148C>T)
c.5421C>T (p.Phe1807=)
c.3408C>T (p.Phe1136=)
c.2958C>T (p.Phe986=)
c.2166C>T (p.Phe722=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60849082dupCA2695209743CHD7c.5332dup (p.His1778ProfsTer3)
c.1717-13147dup (n.1717-13147dup)
c.5422dup (p.His1808ProfsTer3)
c.3409dup (p.His1137ProfsTer3)
c.2959dup (p.His987ProfsTer3)
c.2167dup (p.His723ProfsTer3)
8g.60849082C>ACA371321097CHD7c.5332C>A (p.His1778Asn)
c.1717-13147C>A (n.1717-13147C>A)
c.5422C>A (p.His1808Asn)
c.3409C>A (p.His1137Asn)
c.2959C>A (p.His987Asn)
c.2167C>A (p.His723Asn)
8g.60849082C>GCA371321100CHD7c.5332C>G (p.His1778Asp)
c.1717-13147C>G (n.1717-13147C>G)
c.5422C>G (p.His1808Asp)
c.3409C>G (p.His1137Asp)
c.2959C>G (p.His987Asp)
c.2167C>G (p.His723Asp)
8g.60849082C>TCA371321098CHD7c.5332C>T (p.His1778Tyr)
c.1717-13147C>T (n.1717-13147C>T)
c.5422C>T (p.His1808Tyr)
c.3409C>T (p.His1137Tyr)
c.2959C>T (p.His987Tyr)
c.2167C>T (p.His723Tyr)
8g.60849083A=CA1788134716CHD7c.5333A= (p.His1778=)
c.1717-13146A= (n.1717-13146A=)
c.5423A= (p.His1808=)
c.3410A= (p.His1137=)
c.2960A= (p.His987=)
c.2168A= (p.His723=)
8g.60849083A>CCA371321101CHD7c.5333A>C (p.His1778Pro)
c.1717-13146A>C (n.1717-13146A>C)
c.5423A>C (p.His1808Pro)
c.3410A>C (p.His1137Pro)
c.2960A>C (p.His987Pro)
c.2168A>C (p.His723Pro)
8g.60849083A>GCA371321103CHD7c.5333A>G (p.His1778Arg)
c.1717-13146A>G (n.1717-13146A>G)
c.5423A>G (p.His1808Arg)
c.3410A>G (p.His1137Arg)
c.2960A>G (p.His987Arg)
c.2168A>G (p.His723Arg)
 ClinVar dbSNP gnomAD v4
8g.60849083A>TCA4760341CHD7c.5333A>T (p.His1778Leu)
c.1717-13146A>T (n.1717-13146A>T)
c.5423A>T (p.His1808Leu)
c.3410A>T (p.His1137Leu)
c.2960A>T (p.His987Leu)
c.2168A>T (p.His723Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60849084T>ACA371321105CHD7c.5334T>A (p.His1778Gln)
c.1717-13145T>A (n.1717-13145T>A)
c.5424T>A (p.His1808Gln)
c.3411T>A (p.His1137Gln)
c.2961T>A (p.His987Gln)
c.2169T>A (p.His723Gln)
 gnomAD v4
8g.60849084T>CCA460848444CHD7c.5334T>C (p.His1778=)
c.1717-13145T>C (n.1717-13145T>C)
c.5424T>C (p.His1808=)
c.3411T>C (p.His1137=)
c.2961T>C (p.His987=)
c.2169T>C (p.His723=)
8g.60849084T>GCA371321107CHD7c.5334T>G (p.His1778Gln)
c.1717-13145T>G (n.1717-13145T>G)
c.5424T>G (p.His1808Gln)
c.3411T>G (p.His1137Gln)
c.2961T>G (p.His987Gln)
c.2169T>G (p.His723Gln)
8g.60849085G>ACA371321108CHD7c.5335G>A (p.Ala1779Thr)
c.1717-13144G>A (n.1717-13144G>A)
c.5425G>A (p.Ala1809Thr)
c.3412G>A (p.Ala1138Thr)
c.2962G>A (p.Ala988Thr)
c.2170G>A (p.Ala724Thr)
8g.60849085G>CCA371321110CHD7c.5335G>C (p.Ala1779Pro)
c.1717-13144G>C (n.1717-13144G>C)
c.5425G>C (p.Ala1809Pro)
c.3412G>C (p.Ala1138Pro)
c.2962G>C (p.Ala988Pro)
c.2170G>C (p.Ala724Pro)
8g.60849085G>TCA371321111CHD7c.5335G>T (p.Ala1779Ser)
c.1717-13144G>T (n.1717-13144G>T)
c.5425G>T (p.Ala1809Ser)
c.3412G>T (p.Ala1138Ser)
c.2962G>T (p.Ala988Ser)
c.2170G>T (p.Ala724Ser)
8g.60849086C>ACA371321113CHD7c.5336C>A (p.Ala1779Asp)
c.1717-13143C>A (n.1717-13143C>A)
c.5426C>A (p.Ala1809Asp)
c.3413C>A (p.Ala1138Asp)
c.2963C>A (p.Ala988Asp)
c.2171C>A (p.Ala724Asp)
8g.60849086C=CA1788134724CHD7c.5336C= (p.Ala1779=)
c.1717-13143C= (n.1717-13143C=)
c.5426C= (p.Ala1809=)
c.3413C= (p.Ala1138=)
c.2963C= (p.Ala988=)
c.2171C= (p.Ala724=)
8g.60849086C>GCA4760342CHD7c.5336C>G (p.Ala1779Gly)
c.1717-13143C>G (n.1717-13143C>G)
c.5426C>G (p.Ala1809Gly)
c.3413C>G (p.Ala1138Gly)
c.2963C>G (p.Ala988Gly)
c.2171C>G (p.Ala724Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60849086C>TCA4760343CHD7c.5336C>T (p.Ala1779Val)
c.1717-13143C>T (n.1717-13143C>T)
c.5426C>T (p.Ala1809Val)
c.3413C>T (p.Ala1138Val)
c.2963C>T (p.Ala988Val)
c.2171C>T (p.Ala724Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60849087T>ACA460848445CHD7c.5337T>A (p.Ala1779=)
c.1717-13142T>A (n.1717-13142T>A)
c.5427T>A (p.Ala1809=)
c.3414T>A (p.Ala1138=)
c.2964T>A (p.Ala988=)
c.2172T>A (p.Ala724=)
 dbSNP gnomAD v3 gnomAD v4
8g.60849087T>CCA460848446CHD7c.5337T>C (p.Ala1779=)
c.1717-13142T>C (n.1717-13142T>C)
c.5427T>C (p.Ala1809=)
c.3414T>C (p.Ala1138=)
c.2964T>C (p.Ala988=)
c.2172T>C (p.Ala724=)
 ClinVar dbSNP
8g.60849087T>GCA460848447CHD7c.5337T>G (p.Ala1779=)
c.1717-13142T>G (n.1717-13142T>G)
c.5427T>G (p.Ala1809=)
c.3414T>G (p.Ala1138=)
c.2964T>G (p.Ala988=)
c.2172T>G (p.Ala724=)
8g.60849087T=CA1788134728CHD7c.5337T= (p.Ala1779=)
c.1717-13142T= (n.1717-13142T=)
c.5427T= (p.Ala1809=)
c.3414T= (p.Ala1138=)
c.2964T= (p.Ala988=)
c.2172T= (p.Ala724=)
8g.60849088G>ACA371321117CHD7c.5338G>A (p.Glu1780Lys)
c.1717-13141G>A (n.1717-13141G>A)
c.5428G>A (p.Glu1810Lys)
c.3415G>A (p.Glu1139Lys)
c.2965G>A (p.Glu989Lys)
c.2173G>A (p.Glu725Lys)
8g.60849088G>CCA371321119CHD7c.5338G>C (p.Glu1780Gln)
c.1717-13141G>C (n.1717-13141G>C)
c.5428G>C (p.Glu1810Gln)
c.3415G>C (p.Glu1139Gln)
c.2965G>C (p.Glu989Gln)
c.2173G>C (p.Glu725Gln)
8g.60849088G>TCA371321115CHD7c.5338G>T (p.Glu1780Ter)
c.1717-13141G>T (n.1717-13141G>T)
c.5428G>T (p.Glu1810Ter)
c.3415G>T (p.Glu1139Ter)
c.2965G>T (p.Glu989Ter)
c.2173G>T (p.Glu725Ter)
8g.60849089A=CA1788134730CHD7c.5339A= (p.Glu1780=)
c.1717-13140A= (n.1717-13140A=)
c.5429A= (p.Glu1810=)
c.3416A= (p.Glu1139=)
c.2966A= (p.Glu989=)
c.2174A= (p.Glu725=)
8g.60849089A>CCA371321120CHD7c.5339A>C (p.Glu1780Ala)
c.1717-13140A>C (n.1717-13140A>C)
c.5429A>C (p.Glu1810Ala)
c.3416A>C (p.Glu1139Ala)
c.2966A>C (p.Glu989Ala)
c.2174A>C (p.Glu725Ala)
8g.60849089A>GCA371321123CHD7c.5339A>G (p.Glu1780Gly)
c.1717-13140A>G (n.1717-13140A>G)
c.5429A>G (p.Glu1810Gly)
c.3416A>G (p.Glu1139Gly)
c.2966A>G (p.Glu989Gly)
c.2174A>G (p.Glu725Gly)
8g.60849089A>TCA371321122CHD7c.5339A>T (p.Glu1780Val)
c.1717-13140A>T (n.1717-13140A>T)
c.5429A>T (p.Glu1810Val)
c.3416A>T (p.Glu1139Val)
c.2966A>T (p.Glu989Val)
c.2174A>T (p.Glu725Val)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.60849090A>CCA371321125CHD7c.5340A>C (p.Glu1780Asp)
c.1717-13139A>C (n.1717-13139A>C)
c.5430A>C (p.Glu1810Asp)
c.3417A>C (p.Glu1139Asp)
c.2967A>C (p.Glu989Asp)
c.2175A>C (p.Glu725Asp)
8g.60849090A>GCA460848448CHD7c.5340A>G (p.Glu1780=)
c.1717-13139A>G (n.1717-13139A>G)
c.5430A>G (p.Glu1810=)
c.3417A>G (p.Glu1139=)
c.2967A>G (p.Glu989=)
c.2175A>G (p.Glu725=)
 ClinVar dbSNP gnomAD v4
8g.60849090A>TCA371321126CHD7c.5340A>T (p.Glu1780Asp)
c.1717-13139A>T (n.1717-13139A>T)
c.5430A>T (p.Glu1810Asp)
c.3417A>T (p.Glu1139Asp)
c.2967A>T (p.Glu989Asp)
c.2175A>T (p.Glu725Asp)
8g.60849091G>ACA371321127CHD7c.5341G>A (p.Val1781Ile)
c.1717-13138G>A (n.1717-13138G>A)
c.5431G>A (p.Val1811Ile)
c.3418G>A (p.Val1140Ile)
c.2968G>A (p.Val990Ile)
c.2176G>A (p.Val726Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60849091G>CCA371321128CHD7c.5341G>C (p.Val1781Leu)
c.1717-13138G>C (n.1717-13138G>C)
c.5431G>C (p.Val1811Leu)
c.3418G>C (p.Val1140Leu)
c.2968G>C (p.Val990Leu)
c.2176G>C (p.Val726Leu)
8g.60849091G=CA1788134734CHD7c.5341G= (p.Val1781=)
c.1717-13138G= (n.1717-13138G=)
c.5431G= (p.Val1811=)
c.3418G= (p.Val1140=)
c.2968G= (p.Val990=)
c.2176G= (p.Val726=)
8g.60849091G>TCA371321130CHD7c.5341G>T (p.Val1781Phe)
c.1717-13138G>T (n.1717-13138G>T)
c.5431G>T (p.Val1811Phe)
c.3418G>T (p.Val1140Phe)
c.2968G>T (p.Val990Phe)
c.2176G>T (p.Val726Phe)
 gnomAD v4
8g.60849092T>ACA371321132CHD7c.5342T>A (p.Val1781Asp)
c.1717-13137T>A (n.1717-13137T>A)
c.5432T>A (p.Val1811Asp)
c.3419T>A (p.Val1140Asp)
c.2969T>A (p.Val990Asp)
c.2177T>A (p.Val726Asp)
8g.60849092T>CCA371321133CHD7c.5342T>C (p.Val1781Ala)
c.1717-13137T>C (n.1717-13137T>C)
c.5432T>C (p.Val1811Ala)
c.3419T>C (p.Val1140Ala)
c.2969T>C (p.Val990Ala)
c.2177T>C (p.Val726Ala)
8g.60849092T>GCA371321134CHD7c.5342T>G (p.Val1781Gly)
c.1717-13137T>G (n.1717-13137T>G)
c.5432T>G (p.Val1811Gly)
c.3419T>G (p.Val1140Gly)
c.2969T>G (p.Val990Gly)
c.2177T>G (p.Val726Gly)
8g.60849093T>ACA460848450CHD7c.5343T>A (p.Val1781=)
c.1717-13136T>A (n.1717-13136T>A)
c.5433T>A (p.Val1811=)
c.3420T>A (p.Val1140=)
c.2970T>A (p.Val990=)
c.2178T>A (p.Val726=)
8g.60849093T>CCA10628140CHD7c.5343T>C (p.Val1781=)
c.1717-13136T>C (n.1717-13136T>C)
c.5433T>C (p.Val1811=)
c.3420T>C (p.Val1140=)
c.2970T>C (p.Val990=)
c.2178T>C (p.Val726=)
 ClinVar dbSNP
8g.60849093T>GCA460848449CHD7c.5343T>G (p.Val1781=)
c.1717-13136T>G (n.1717-13136T>G)
c.5433T>G (p.Val1811=)
c.3420T>G (p.Val1140=)
c.2970T>G (p.Val990=)
c.2178T>G (p.Val726=)
8g.60849093T=CA1788134739CHD7c.5343T= (p.Val1781=)
c.1717-13136T= (n.1717-13136T=)
c.5433T= (p.Val1811=)
c.3420T= (p.Val1140=)
c.2970T= (p.Val990=)
c.2178T= (p.Val726=)
8g.60849094C>ACA371321138CHD7c.5344C>A (p.Pro1782Thr)
c.1717-13135C>A (n.1717-13135C>A)
c.5434C>A (p.Pro1812Thr)
c.3421C>A (p.Pro1141Thr)
c.2971C>A (p.Pro991Thr)
c.2179C>A (p.Pro727Thr)
 COSMIC
8g.60849094C>GCA371321139CHD7c.5344C>G (p.Pro1782Ala)
c.1717-13135C>G (n.1717-13135C>G)
c.5434C>G (p.Pro1812Ala)
c.3421C>G (p.Pro1141Ala)
c.2971C>G (p.Pro991Ala)
c.2179C>G (p.Pro727Ala)
8g.60849094C>TCA371321140CHD7c.5344C>T (p.Pro1782Ser)
c.1717-13135C>T (n.1717-13135C>T)
c.5434C>T (p.Pro1812Ser)
c.3421C>T (p.Pro1141Ser)
c.2971C>T (p.Pro991Ser)
c.2179C>T (p.Pro727Ser)
8g.60849095delCA2573053042CHD7c.5345del (p.Pro1782LeufsTer14)
c.1717-13134del (n.1717-13134del)
c.5435del (p.Pro1812LeufsTer14)
c.3422del (p.Pro1141LeufsTer14)
c.2972del (p.Pro991LeufsTer14)
c.2180del (p.Pro727LeufsTer14)
 ClinVar dbSNP
8g.60849095C>ACA371321144CHD7c.5345C>A (p.Pro1782His)
c.1717-13134C>A (n.1717-13134C>A)
c.5435C>A (p.Pro1812His)
c.3422C>A (p.Pro1141His)
c.2972C>A (p.Pro991His)
c.2180C>A (p.Pro727His)
8g.60849095C=CA1788134750CHD7c.5345C= (p.Pro1782=)
c.1717-13134C= (n.1717-13134C=)
c.5435C= (p.Pro1812=)
c.3422C= (p.Pro1141=)
c.2972C= (p.Pro991=)
c.2180C= (p.Pro727=)
8g.60849095C>GCA371321142CHD7c.5345C>G (p.Pro1782Arg)
c.1717-13134C>G (n.1717-13134C>G)
c.5435C>G (p.Pro1812Arg)
c.3422C>G (p.Pro1141Arg)
c.2972C>G (p.Pro991Arg)
c.2180C>G (p.Pro727Arg)
8g.60849095C>TCA177352607CHD7c.5345C>T (p.Pro1782Leu)
c.1717-13134C>T (n.1717-13134C>T)
c.5435C>T (p.Pro1812Leu)
c.3422C>T (p.Pro1141Leu)
c.2972C>T (p.Pro991Leu)
c.2180C>T (p.Pro727Leu)
 ClinVar dbSNP
8g.60849096T>ACA460848451CHD7c.5346T>A (p.Pro1782=)
c.1717-13133T>A (n.1717-13133T>A)
c.5436T>A (p.Pro1812=)
c.3423T>A (p.Pro1141=)
c.2973T>A (p.Pro991=)
c.2181T>A (p.Pro727=)
8g.60849096T>CCA460848453CHD7c.5346T>C (p.Pro1782=)
c.1717-13133T>C (n.1717-13133T>C)
c.5436T>C (p.Pro1812=)
c.3423T>C (p.Pro1141=)
c.2973T>C (p.Pro991=)
c.2181T>C (p.Pro727=)
8g.60849096T>GCA460848452CHD7c.5346T>G (p.Pro1782=)
c.1717-13133T>G (n.1717-13133T>G)
c.5436T>G (p.Pro1812=)
c.3423T>G (p.Pro1141=)
c.2973T>G (p.Pro991=)
c.2181T>G (p.Pro727=)
8g.60849097G>ACA371321145CHD7c.5347G>A (p.Ala1783Thr)
c.1717-13132G>A (n.1717-13132G>A)
c.5437G>A (p.Ala1813Thr)
c.3424G>A (p.Ala1142Thr)
c.2974G>A (p.Ala992Thr)
c.2182G>A (p.Ala728Thr)
 gnomAD v4
8g.60849097G>CCA371321147CHD7c.5347G>C (p.Ala1783Pro)
c.1717-13132G>C (n.1717-13132G>C)
c.5437G>C (p.Ala1813Pro)
c.3424G>C (p.Ala1142Pro)
c.2974G>C (p.Ala992Pro)
c.2182G>C (p.Ala728Pro)
8g.60849097G>TCA371321149CHD7c.5347G>T (p.Ala1783Ser)
c.1717-13132G>T (n.1717-13132G>T)
c.5437G>T (p.Ala1813Ser)
c.3424G>T (p.Ala1142Ser)
c.2974G>T (p.Ala992Ser)
c.2182G>T (p.Ala728Ser)
8g.60849098C>ACA371321151CHD7c.5348C>A (p.Ala1783Glu)
c.1717-13131C>A (n.1717-13131C>A)
c.5438C>A (p.Ala1813Glu)
c.3425C>A (p.Ala1142Glu)
c.2975C>A (p.Ala992Glu)
c.2183C>A (p.Ala728Glu)
 gnomAD v4
8g.60849098C>GCA371321152CHD7c.5348C>G (p.Ala1783Gly)
c.1717-13131C>G (n.1717-13131C>G)
c.5438C>G (p.Ala1813Gly)
c.3425C>G (p.Ala1142Gly)
c.2975C>G (p.Ala992Gly)
c.2183C>G (p.Ala728Gly)
8g.60849098C>TCA371321153CHD7c.5348C>T (p.Ala1783Val)
c.1717-13131C>T (n.1717-13131C>T)
c.5438C>T (p.Ala1813Val)
c.3425C>T (p.Ala1142Val)
c.2975C>T (p.Ala992Val)
c.2183C>T (p.Ala728Val)
 gnomAD v4
8g.60849099A>CCA460848454CHD7c.5349A>C (p.Ala1783=)
c.1717-13130A>C (n.1717-13130A>C)
c.5439A>C (p.Ala1813=)
c.3426A>C (p.Ala1142=)
c.2976A>C (p.Ala992=)
c.2184A>C (p.Ala728=)
8g.60849099A>GCA460848455CHD7c.5349A>G (p.Ala1783=)
c.1717-13130A>G (n.1717-13130A>G)
c.5439A>G (p.Ala1813=)
c.3426A>G (p.Ala1142=)
c.2976A>G (p.Ala992=)
c.2184A>G (p.Ala728=)
8g.60849099A>TCA460848456CHD7c.5349A>T (p.Ala1783=)
c.1717-13130A>T (n.1717-13130A>T)
c.5439A>T (p.Ala1813=)
c.3426A>T (p.Ala1142=)
c.2976A>T (p.Ala992=)
c.2184A>T (p.Ala728=)
8g.60849100G>ACA371321155CHD7c.5350G>A (p.Asp1784Asn)
c.1717-13129G>A (n.1717-13129G>A)
c.5440G>A (p.Asp1814Asn)
c.3427G>A (p.Asp1143Asn)
c.2977G>A (p.Asp993Asn)
c.2185G>A (p.Asp729Asn)
8g.60849100G>CCA371321157CHD7c.5350G>C (p.Asp1784His)
c.1717-13129G>C (n.1717-13129G>C)
c.5440G>C (p.Asp1814His)
c.3427G>C (p.Asp1143His)
c.2977G>C (p.Asp993His)
c.2185G>C (p.Asp729His)
 dbSNP gnomAD v2
8g.60849100G=CA1788134760CHD7c.5350G= (p.Asp1784=)
c.1717-13129G= (n.1717-13129G=)
c.5440G= (p.Asp1814=)
c.3427G= (p.Asp1143=)
c.2977G= (p.Asp993=)
c.2185G= (p.Asp729=)
8g.60849100G>TCA371321158CHD7c.5350G>T (p.Asp1784Tyr)
c.1717-13129G>T (n.1717-13129G>T)
c.5440G>T (p.Asp1814Tyr)
c.3427G>T (p.Asp1143Tyr)
c.2977G>T (p.Asp993Tyr)
c.2185G>T (p.Asp729Tyr)
8g.60849101A=CA1788134764CHD7c.5351A= (p.Asp1784=)
c.1717-13128A= (n.1717-13128A=)
c.5441A= (p.Asp1814=)
c.3428A= (p.Asp1143=)
c.2978A= (p.Asp993=)
c.2186A= (p.Asp729=)
8g.60849101A>CCA371321160CHD7c.5351A>C (p.Asp1784Ala)
c.1717-13128A>C (n.1717-13128A>C)
c.5441A>C (p.Asp1814Ala)
c.3428A>C (p.Asp1143Ala)
c.2978A>C (p.Asp993Ala)
c.2186A>C (p.Asp729Ala)
 dbSNP
8g.60849101A>GCA371321161CHD7c.5351A>G (p.Asp1784Gly)
c.1717-13128A>G (n.1717-13128A>G)
c.5441A>G (p.Asp1814Gly)
c.3428A>G (p.Asp1143Gly)
c.2978A>G (p.Asp993Gly)
c.2186A>G (p.Asp729Gly)
8g.60849101A>TCA371321162CHD7c.5351A>T (p.Asp1784Val)
c.1717-13128A>T (n.1717-13128A>T)
c.5441A>T (p.Asp1814Val)
c.3428A>T (p.Asp1143Val)
c.2978A>T (p.Asp993Val)
c.2186A>T (p.Asp729Val)
8g.60849102T>ACA371321165CHD7c.5352T>A (p.Asp1784Glu)
c.1717-13127T>A (n.1717-13127T>A)
c.5442T>A (p.Asp1814Glu)
c.3429T>A (p.Asp1143Glu)
c.2979T>A (p.Asp993Glu)
c.2187T>A (p.Asp729Glu)
 dbSNP
8g.60849102T>CCA460848457CHD7c.5352T>C (p.Asp1784=)
c.1717-13127T>C (n.1717-13127T>C)
c.5442T>C (p.Asp1814=)
c.3429T>C (p.Asp1143=)
c.2979T>C (p.Asp993=)
c.2187T>C (p.Asp729=)
8g.60849102T>GCA371321164CHD7c.5352T>G (p.Asp1784Glu)
c.1717-13127T>G (n.1717-13127T>G)
c.5442T>G (p.Asp1814Glu)
c.3429T>G (p.Asp1143Glu)
c.2979T>G (p.Asp993Glu)
c.2187T>G (p.Asp729Glu)
8g.60849102T=CA1788134769CHD7c.5352T= (p.Asp1784=)
c.1717-13127T= (n.1717-13127T=)
c.5442T= (p.Asp1814=)
c.3429T= (p.Asp1143=)
c.2979T= (p.Asp993=)
c.2187T= (p.Asp729=)
8g.60849103T>ACA371321166CHD7c.5353T>A (p.Trp1785Arg)
c.1717-13126T>A (n.1717-13126T>A)
c.5443T>A (p.Trp1815Arg)
c.3430T>A (p.Trp1144Arg)
c.2980T>A (p.Trp994Arg)
c.2188T>A (p.Trp730Arg)
8g.60849103T>CCA371321168CHD7c.5353T>C (p.Trp1785Arg)
c.1717-13126T>C (n.1717-13126T>C)
c.5443T>C (p.Trp1815Arg)
c.3430T>C (p.Trp1144Arg)
c.2980T>C (p.Trp994Arg)
c.2188T>C (p.Trp730Arg)
8g.60849103T>GCA371321169CHD7c.5353T>G (p.Trp1785Gly)
c.1717-13126T>G (n.1717-13126T>G)
c.5443T>G (p.Trp1815Gly)
c.3430T>G (p.Trp1144Gly)
c.2980T>G (p.Trp994Gly)
c.2188T>G (p.Trp730Gly)
8g.60849104G>ACA371321170CHD7c.5354G>A (p.Trp1785Ter)
c.1717-13125G>A (n.1717-13125G>A)
c.5444G>A (p.Trp1815Ter)
c.3431G>A (p.Trp1144Ter)
c.2981G>A (p.Trp994Ter)
c.2189G>A (p.Trp730Ter)
8g.60849104G>CCA371321171CHD7c.5354G>C (p.Trp1785Ser)
c.1717-13125G>C (n.1717-13125G>C)
c.5444G>C (p.Trp1815Ser)
c.3431G>C (p.Trp1144Ser)
c.2981G>C (p.Trp994Ser)
c.2189G>C (p.Trp730Ser)
8g.60849104G>TCA371321172CHD7c.5354G>T (p.Trp1785Leu)
c.1717-13125G>T (n.1717-13125G>T)
c.5444G>T (p.Trp1815Leu)
c.3431G>T (p.Trp1144Leu)
c.2981G>T (p.Trp994Leu)
c.2189G>T (p.Trp730Leu)
8g.60849105G>ACA371321178CHD7c.5355G>A (p.Trp1785Ter)
c.1717-13124G>A (n.1717-13124G>A)
c.5445G>A (p.Trp1815Ter)
c.3432G>A (p.Trp1144Ter)
c.2982G>A (p.Trp994Ter)
c.2190G>A (p.Trp730Ter)
 ClinVar dbSNP
8g.60849105G>CCA371321176CHD7c.5355G>C (p.Trp1785Cys)
c.1717-13124G>C (n.1717-13124G>C)
c.5445G>C (p.Trp1815Cys)
c.3432G>C (p.Trp1144Cys)
c.2982G>C (p.Trp994Cys)
c.2190G>C (p.Trp730Cys)
8g.60849105G=CA1788134772CHD7c.5355G= (p.Trp1785=)
c.1717-13124G= (n.1717-13124G=)
c.5445G= (p.Trp1815=)
c.3432G= (p.Trp1144=)
c.2982G= (p.Trp994=)
c.2190G= (p.Trp730=)
8g.60849105G>TCA371321174CHD7c.5355G>T (p.Trp1785Cys)
c.1717-13124G>T (n.1717-13124G>T)
c.5445G>T (p.Trp1815Cys)
c.3432G>T (p.Trp1144Cys)
c.2982G>T (p.Trp994Cys)
c.2190G>T (p.Trp730Cys)
8g.60849106T>ACA371321179CHD7c.5356T>A (p.Trp1786Arg)
c.1717-13123T>A (n.1717-13123T>A)
c.5446T>A (p.Trp1816Arg)
c.3433T>A (p.Trp1145Arg)
c.2983T>A (p.Trp995Arg)
c.2191T>A (p.Trp731Arg)
8g.60849106T>CCA371321180CHD7c.5356T>C (p.Trp1786Arg)
c.1717-13123T>C (n.1717-13123T>C)
c.5446T>C (p.Trp1816Arg)
c.3433T>C (p.Trp1145Arg)
c.2983T>C (p.Trp995Arg)
c.2191T>C (p.Trp731Arg)
 ClinVar dbSNP
8g.60849106T>GCA371321182CHD7c.5356T>G (p.Trp1786Gly)
c.1717-13123T>G (n.1717-13123T>G)
c.5446T>G (p.Trp1816Gly)
c.3433T>G (p.Trp1145Gly)
c.2983T>G (p.Trp995Gly)
c.2191T>G (p.Trp731Gly)
8g.60849107G>ACA371321184CHD7c.5357G>A (p.Trp1786Ter)
c.1717-13122G>A (n.1717-13122G>A)
c.5447G>A (p.Trp1816Ter)
c.3434G>A (p.Trp1145Ter)
c.2984G>A (p.Trp995Ter)
c.2192G>A (p.Trp731Ter)
 ClinVar dbSNP
8g.60849107G>CCA371321185CHD7c.5357G>C (p.Trp1786Ser)
c.1717-13122G>C (n.1717-13122G>C)
c.5447G>C (p.Trp1816Ser)
c.3434G>C (p.Trp1145Ser)
c.2984G>C (p.Trp995Ser)
c.2192G>C (p.Trp731Ser)
8g.60849107G=CA1788134780CHD7c.5357G= (p.Trp1786=)
c.1717-13122G= (n.1717-13122G=)
c.5447G= (p.Trp1816=)
c.3434G= (p.Trp1145=)
c.2984G= (p.Trp995=)
c.2192G= (p.Trp731=)
8g.60849107G>TCA371321186CHD7c.5357G>T (p.Trp1786Leu)
c.1717-13122G>T (n.1717-13122G>T)
c.5447G>T (p.Trp1816Leu)
c.3434G>T (p.Trp1145Leu)
c.2984G>T (p.Trp995Leu)
c.2192G>T (p.Trp731Leu)
8g.60849108G>ACA371321188CHD7c.5358G>A (p.Trp1786Ter)
c.1717-13121G>A (n.1717-13121G>A)
c.5448G>A (p.Trp1816Ter)
c.3435G>A (p.Trp1145Ter)
c.2985G>A (p.Trp995Ter)
c.2193G>A (p.Trp731Ter)
8g.60849108G>CCA371321191CHD7c.5358G>C (p.Trp1786Cys)
c.1717-13121G>C (n.1717-13121G>C)
c.5448G>C (p.Trp1816Cys)
c.3435G>C (p.Trp1145Cys)
c.2985G>C (p.Trp995Cys)
c.2193G>C (p.Trp731Cys)
8g.60849108G>TCA371321189CHD7c.5358G>T (p.Trp1786Cys)
c.1717-13121G>T (n.1717-13121G>T)
c.5448G>T (p.Trp1816Cys)
c.3435G>T (p.Trp1145Cys)
c.2985G>T (p.Trp995Cys)
c.2193G>T (p.Trp731Cys)
8g.60849109G>ACA371321193CHD7c.5359G>A (p.Asp1787Asn)
c.1717-13120G>A (n.1717-13120G>A)
c.5449G>A (p.Asp1817Asn)
c.3436G>A (p.Asp1146Asn)
c.2986G>A (p.Asp996Asn)
c.2194G>A (p.Asp732Asn)
 COSMIC
8g.60849109G>CCA371321194CHD7c.5359G>C (p.Asp1787His)
c.1717-13120G>C (n.1717-13120G>C)
c.5449G>C (p.Asp1817His)
c.3436G>C (p.Asp1146His)
c.2986G>C (p.Asp996His)
c.2194G>C (p.Asp732His)
8g.60849109G>TCA371321195CHD7c.5359G>T (p.Asp1787Tyr)
c.1717-13120G>T (n.1717-13120G>T)
c.5449G>T (p.Asp1817Tyr)
c.3436G>T (p.Asp1146Tyr)
c.2986G>T (p.Asp996Tyr)
c.2194G>T (p.Asp732Tyr)
8g.60849110A=CA1788134787CHD7c.5360A= (p.Asp1787=)
c.1717-13119A= (n.1717-13119A=)
c.5450A= (p.Asp1817=)
c.3437A= (p.Asp1146=)
c.2987A= (p.Asp996=)
c.2195A= (p.Asp732=)
8g.60849110A>CCA371321197CHD7c.5360A>C (p.Asp1787Ala)
c.1717-13119A>C (n.1717-13119A>C)
c.5450A>C (p.Asp1817Ala)
c.3437A>C (p.Asp1146Ala)
c.2987A>C (p.Asp996Ala)
c.2195A>C (p.Asp732Ala)
 ClinVar dbSNP
8g.60849110A>GCA371321199CHD7c.5360A>G (p.Asp1787Gly)
c.1717-13119A>G (n.1717-13119A>G)
c.5450A>G (p.Asp1817Gly)
c.3437A>G (p.Asp1146Gly)
c.2987A>G (p.Asp996Gly)
c.2195A>G (p.Asp732Gly)
8g.60849110A>TCA371321200CHD7c.5360A>T (p.Asp1787Val)
c.1717-13119A>T (n.1717-13119A>T)
c.5450A>T (p.Asp1817Val)
c.3437A>T (p.Asp1146Val)
c.2987A>T (p.Asp996Val)
c.2195A>T (p.Asp732Val)
 gnomAD v4
8g.60849111T>ACA371321202CHD7c.5361T>A (p.Asp1787Glu)
c.1717-13118T>A (n.1717-13118T>A)
c.5451T>A (p.Asp1817Glu)
c.3438T>A (p.Asp1146Glu)
c.2988T>A (p.Asp996Glu)
c.2196T>A (p.Asp732Glu)
 gnomAD v4
8g.60849111T>CCA460848458CHD7c.5361T>C (p.Asp1787=)
c.1717-13118T>C (n.1717-13118T>C)
c.5451T>C (p.Asp1817=)
c.3438T>C (p.Asp1146=)
c.2988T>C (p.Asp996=)
c.2196T>C (p.Asp732=)
8g.60849111T>GCA371321203CHD7c.5361T>G (p.Asp1787Glu)
c.1717-13118T>G (n.1717-13118T>G)
c.5451T>G (p.Asp1817Glu)
c.3438T>G (p.Asp1146Glu)
c.2988T>G (p.Asp996Glu)
c.2196T>G (p.Asp732Glu)
8g.60849112A>CCA371321205CHD7c.5362A>C (p.Lys1788Gln)
c.1717-13117A>C (n.1717-13117A>C)
c.5452A>C (p.Lys1818Gln)
c.3439A>C (p.Lys1147Gln)
c.2989A>C (p.Lys997Gln)
c.2197A>C (p.Lys733Gln)
8g.60849112A>GCA371321206CHD7c.5362A>G (p.Lys1788Glu)
c.1717-13117A>G (n.1717-13117A>G)
c.5452A>G (p.Lys1818Glu)
c.3439A>G (p.Lys1147Glu)
c.2989A>G (p.Lys997Glu)
c.2197A>G (p.Lys733Glu)
8g.60849112A>TCA371321208CHD7c.5362A>T (p.Lys1788Ter)
c.1717-13117A>T (n.1717-13117A>T)
c.5452A>T (p.Lys1818Ter)
c.3439A>T (p.Lys1147Ter)
c.2989A>T (p.Lys997Ter)
c.2197A>T (p.Lys733Ter)
8g.60849113A>CCA371321209CHD7c.5363A>C (p.Lys1788Thr)
c.1717-13116A>C (n.1717-13116A>C)
c.5453A>C (p.Lys1818Thr)
c.3440A>C (p.Lys1147Thr)
c.2990A>C (p.Lys997Thr)
c.2198A>C (p.Lys733Thr)
8g.60849113A>GCA371321212CHD7c.5363A>G (p.Lys1788Arg)
c.1717-13116A>G (n.1717-13116A>G)
c.5453A>G (p.Lys1818Arg)
c.3440A>G (p.Lys1147Arg)
c.2990A>G (p.Lys997Arg)
c.2198A>G (p.Lys733Arg)
8g.60849113A>TCA371321211CHD7c.5363A>T (p.Lys1788Met)
c.1717-13116A>T (n.1717-13116A>T)
c.5453A>T (p.Lys1818Met)
c.3440A>T (p.Lys1147Met)
c.2990A>T (p.Lys997Met)
c.2198A>T (p.Lys733Met)
8g.60849114G>ACA460848459CHD7c.5364G>A (p.Lys1788=)
c.1717-13115G>A (n.1717-13115G>A)
c.5454G>A (p.Lys1818=)
c.3441G>A (p.Lys1147=)
c.2991G>A (p.Lys997=)
c.2199G>A (p.Lys733=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60849114G>CCA371321214CHD7c.5364G>C (p.Lys1788Asn)
c.1717-13115G>C (n.1717-13115G>C)
c.5454G>C (p.Lys1818Asn)
c.3441G>C (p.Lys1147Asn)
c.2991G>C (p.Lys997Asn)
c.2199G>C (p.Lys733Asn)
8g.60849114G=CA1788134792CHD7c.5364G= (p.Lys1788=)
c.1717-13115G= (n.1717-13115G=)
c.5454G= (p.Lys1818=)
c.3441G= (p.Lys1147=)
c.2991G= (p.Lys997=)
c.2199G= (p.Lys733=)
8g.60849114G>TCA371321215CHD7c.5364G>T (p.Lys1788Asn)
c.1717-13115G>T (n.1717-13115G>T)
c.5454G>T (p.Lys1818Asn)
c.3441G>T (p.Lys1147Asn)
c.2991G>T (p.Lys997Asn)
c.2199G>T (p.Lys733Asn)
8g.60849115G>ACA371321216CHD7c.5365G>A (p.Glu1789Lys)
c.1717-13114G>A (n.1717-13114G>A)
c.5455G>A (p.Glu1819Lys)
c.3442G>A (p.Glu1148Lys)
c.2992G>A (p.Glu998Lys)
c.2200G>A (p.Glu734Lys)
8g.60849115G>CCA371321218CHD7c.5365G>C (p.Glu1789Gln)
c.1717-13114G>C (n.1717-13114G>C)
c.5455G>C (p.Glu1819Gln)
c.3442G>C (p.Glu1148Gln)
c.2992G>C (p.Glu998Gln)
c.2200G>C (p.Glu734Gln)
8g.60849115G>TCA371321219CHD7c.5365G>T (p.Glu1789Ter)
c.1717-13114G>T (n.1717-13114G>T)
c.5455G>T (p.Glu1819Ter)
c.3442G>T (p.Glu1148Ter)
c.2992G>T (p.Glu998Ter)
c.2200G>T (p.Glu734Ter)
8g.60849116A=CA1788134797CHD7c.5366A= (p.Glu1789=)
c.1717-13113A= (n.1717-13113A=)
c.5456A= (p.Glu1819=)
c.3443A= (p.Glu1148=)
c.2993A= (p.Glu998=)
c.2201A= (p.Glu734=)
8g.60849116A>CCA371321221CHD7c.5366A>C (p.Glu1789Ala)
c.1717-13113A>C (n.1717-13113A>C)
c.5456A>C (p.Glu1819Ala)
c.3443A>C (p.Glu1148Ala)
c.2993A>C (p.Glu998Ala)
c.2201A>C (p.Glu734Ala)
8g.60849116A>GCA4760344CHD7c.5366A>G (p.Glu1789Gly)
c.1717-13113A>G (n.1717-13113A>G)
c.5456A>G (p.Glu1819Gly)
c.3443A>G (p.Glu1148Gly)
c.2993A>G (p.Glu998Gly)
c.2201A>G (p.Glu734Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.60849116A>TCA371321223CHD7c.5366A>T (p.Glu1789Val)
c.1717-13113A>T (n.1717-13113A>T)
c.5456A>T (p.Glu1819Val)
c.3443A>T (p.Glu1148Val)
c.2993A>T (p.Glu998Val)
c.2201A>T (p.Glu734Val)
8g.60849117A=CA1788134804CHD7c.5367A= (p.Glu1789=)
c.1717-13112A= (n.1717-13112A=)
c.5457A= (p.Glu1819=)
c.3444A= (p.Glu1148=)
c.2994A= (p.Glu998=)
c.2202A= (p.Glu734=)
8g.60849117A>CCA371321225CHD7c.5367A>C (p.Glu1789Asp)
c.1717-13112A>C (n.1717-13112A>C)
c.5457A>C (p.Glu1819Asp)
c.3444A>C (p.Glu1148Asp)
c.2994A>C (p.Glu998Asp)
c.2202A>C (p.Glu734Asp)
8g.60849117A>GCA460848460CHD7c.5367A>G (p.Glu1789=)
c.1717-13112A>G (n.1717-13112A>G)
c.5457A>G (p.Glu1819=)
c.3444A>G (p.Glu1148=)
c.2994A>G (p.Glu998=)
c.2202A>G (p.Glu734=)
 gnomAD v4
8g.60849117A>TCA371321226CHD7c.5367A>T (p.Glu1789Asp)
c.1717-13112A>T (n.1717-13112A>T)
c.5457A>T (p.Glu1819Asp)
c.3444A>T (p.Glu1148Asp)
c.2994A>T (p.Glu998Asp)
c.2202A>T (p.Glu734Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60849118G>ACA4760345CHD7c.5368G>A (p.Ala1790Thr)
c.1717-13111G>A (n.1717-13111G>A)
c.5458G>A (p.Ala1820Thr)
c.3445G>A (p.Ala1149Thr)
c.2995G>A (p.Ala999Thr)
c.2203G>A (p.Ala735Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60849118G>CCA371321229CHD7c.5368G>C (p.Ala1790Pro)
c.1717-13111G>C (n.1717-13111G>C)
c.5458G>C (p.Ala1820Pro)
c.3445G>C (p.Ala1149Pro)
c.2995G>C (p.Ala999Pro)
c.2203G>C (p.Ala735Pro)
8g.60849118G=CA1788134809CHD7c.5368G= (p.Ala1790=)
c.1717-13111G= (n.1717-13111G=)
c.5458G= (p.Ala1820=)
c.3445G= (p.Ala1149=)
c.2995G= (p.Ala999=)
c.2203G= (p.Ala735=)
8g.60849118G>TCA371321230CHD7c.5368G>T (p.Ala1790Ser)
c.1717-13111G>T (n.1717-13111G>T)
c.5458G>T (p.Ala1820Ser)
c.3445G>T (p.Ala1149Ser)
c.2995G>T (p.Ala999Ser)
c.2203G>T (p.Ala735Ser)
8g.60849119C>ACA371321234CHD7c.5369C>A (p.Ala1790Glu)
c.1717-13110C>A (n.1717-13110C>A)
c.5459C>A (p.Ala1820Glu)
c.3446C>A (p.Ala1149Glu)
c.2996C>A (p.Ala999Glu)
c.2204C>A (p.Ala735Glu)
8g.60849119C>GCA371321232CHD7c.5369C>G (p.Ala1790Gly)
c.1717-13110C>G (n.1717-13110C>G)
c.5459C>G (p.Ala1820Gly)
c.3446C>G (p.Ala1149Gly)
c.2996C>G (p.Ala999Gly)
c.2204C>G (p.Ala735Gly)
8g.60849119C>TCA371321233CHD7c.5369C>T (p.Ala1790Val)
c.1717-13110C>T (n.1717-13110C>T)
c.5459C>T (p.Ala1820Val)
c.3446C>T (p.Ala1149Val)
c.2996C>T (p.Ala999Val)
c.2204C>T (p.Ala735Val)
 gnomAD v4
8g.60849120A>CCA460848461CHD7c.5370A>C (p.Ala1790=)
c.1717-13109A>C (n.1717-13109A>C)
c.5460A>C (p.Ala1820=)
c.3447A>C (p.Ala1149=)
c.2997A>C (p.Ala999=)
c.2205A>C (p.Ala735=)
8g.60849120A>GCA460848462CHD7c.5370A>G (p.Ala1790=)
c.1717-13109A>G (n.1717-13109A>G)
c.5460A>G (p.Ala1820=)
c.3447A>G (p.Ala1149=)
c.2997A>G (p.Ala999=)
c.2205A>G (p.Ala735=)
 gnomAD v4
8g.60849120A>TCA460848463CHD7c.5370A>T (p.Ala1790=)
c.1717-13109A>T (n.1717-13109A>T)
c.5460A>T (p.Ala1820=)
c.3447A>T (p.Ala1149=)
c.2997A>T (p.Ala999=)
c.2205A>T (p.Ala735=)
8g.60849121G>ACA371321237CHD7c.5371G>A (p.Asp1791Asn)
c.1717-13108G>A (n.1717-13108G>A)
c.5461G>A (p.Asp1821Asn)
c.3448G>A (p.Asp1150Asn)
c.2998G>A (p.Asp1000Asn)
c.2206G>A (p.Asp736Asn)
 ClinVar dbSNP
8g.60849121G>CCA371321238CHD7c.5371G>C (p.Asp1791His)
c.1717-13108G>C (n.1717-13108G>C)
c.5461G>C (p.Asp1821His)
c.3448G>C (p.Asp1150His)
c.2998G>C (p.Asp1000His)
c.2206G>C (p.Asp736His)
8g.60849121G=CA1788134814CHD7c.5371G= (p.Asp1791=)
c.1717-13108G= (n.1717-13108G=)
c.5461G= (p.Asp1821=)
c.3448G= (p.Asp1150=)
c.2998G= (p.Asp1000=)
c.2206G= (p.Asp736=)
8g.60849121G>TCA371321240CHD7c.5371G>T (p.Asp1791Tyr)
c.1717-13108G>T (n.1717-13108G>T)
c.5461G>T (p.Asp1821Tyr)
c.3448G>T (p.Asp1150Tyr)
c.2998G>T (p.Asp1000Tyr)
c.2206G>T (p.Asp736Tyr)
8g.60849122A>CCA371321241CHD7c.5372A>C (p.Asp1791Ala)
c.1717-13107A>C (n.1717-13107A>C)
c.5462A>C (p.Asp1821Ala)
c.3449A>C (p.Asp1150Ala)
c.2999A>C (p.Asp1000Ala)
c.2207A>C (p.Asp736Ala)
8g.60849122A>GCA371321242CHD7c.5372A>G (p.Asp1791Gly)
c.1717-13107A>G (n.1717-13107A>G)
c.5462A>G (p.Asp1821Gly)
c.3449A>G (p.Asp1150Gly)
c.2999A>G (p.Asp1000Gly)
c.2207A>G (p.Asp736Gly)
8g.60849122A>TCA371321243CHD7c.5372A>T (p.Asp1791Val)
c.1717-13107A>T (n.1717-13107A>T)
c.5462A>T (p.Asp1821Val)
c.3449A>T (p.Asp1150Val)
c.2999A>T (p.Asp1000Val)
c.2207A>T (p.Asp736Val)
8g.60849123C>ACA371321244CHD7c.5373C>A (p.Asp1791Glu)
c.1717-13106C>A (n.1717-13106C>A)
c.5463C>A (p.Asp1821Glu)
c.3450C>A (p.Asp1150Glu)
c.3000C>A (p.Asp1000Glu)
c.2208C>A (p.Asp736Glu)
8g.60849123C>GCA371321246CHD7c.5373C>G (p.Asp1791Glu)
c.1717-13106C>G (n.1717-13106C>G)
c.5463C>G (p.Asp1821Glu)
c.3450C>G (p.Asp1150Glu)
c.3000C>G (p.Asp1000Glu)
c.2208C>G (p.Asp736Glu)
8g.60849123C>TCA460848464CHD7c.5373C>T (p.Asp1791=)
c.1717-13106C>T (n.1717-13106C>T)
c.5463C>T (p.Asp1821=)
c.3450C>T (p.Asp1150=)
c.3000C>T (p.Asp1000=)
c.2208C>T (p.Asp736=)
8g.60849124A>CCA371321248CHD7c.5374A>C (p.Lys1792Gln)
c.1717-13105A>C (n.1717-13105A>C)
c.5464A>C (p.Lys1822Gln)
c.3451A>C (p.Lys1151Gln)
c.3001A>C (p.Lys1001Gln)
c.2209A>C (p.Lys737Gln)
8g.60849124A>GCA371321249CHD7c.5374A>G (p.Lys1792Glu)
c.1717-13105A>G (n.1717-13105A>G)
c.5464A>G (p.Lys1822Glu)
c.3451A>G (p.Lys1151Glu)
c.3001A>G (p.Lys1001Glu)
c.2209A>G (p.Lys737Glu)
8g.60849124A>TCA371321250CHD7c.5374A>T (p.Lys1792Ter)
c.1717-13105A>T (n.1717-13105A>T)
c.5464A>T (p.Lys1822Ter)
c.3451A>T (p.Lys1151Ter)
c.3001A>T (p.Lys1001Ter)
c.2209A>T (p.Lys737Ter)
8g.60849125A=CA1788134822CHD7c.5375A= (p.Lys1792=)
c.1717-13104A= (n.1717-13104A=)
c.5465A= (p.Lys1822=)
c.3452A= (p.Lys1151=)
c.3002A= (p.Lys1001=)
c.2210A= (p.Lys737=)
8g.60849125A>CCA371321254CHD7c.5375A>C (p.Lys1792Thr)
c.1717-13104A>C (n.1717-13104A>C)
c.5465A>C (p.Lys1822Thr)
c.3452A>C (p.Lys1151Thr)
c.3002A>C (p.Lys1001Thr)
c.2210A>C (p.Lys737Thr)
8g.60849125A>GCA371321255CHD7c.5375A>G (p.Lys1792Arg)
c.1717-13104A>G (n.1717-13104A>G)
c.5465A>G (p.Lys1822Arg)
c.3452A>G (p.Lys1151Arg)
c.3002A>G (p.Lys1001Arg)
c.2210A>G (p.Lys737Arg)
 dbSNP gnomAD v2 gnomAD v4
8g.60849125A>TCA371321252CHD7c.5375A>T (p.Lys1792Ile)
c.1717-13104A>T (n.1717-13104A>T)
c.5465A>T (p.Lys1822Ile)
c.3452A>T (p.Lys1151Ile)
c.3002A>T (p.Lys1001Ile)
c.2210A>T (p.Lys737Ile)
8g.60849126A>CCA371321257CHD7c.5376A>C (p.Lys1792Asn)
c.1717-13103A>C (n.1717-13103A>C)
c.5466A>C (p.Lys1822Asn)
c.3453A>C (p.Lys1151Asn)
c.3003A>C (p.Lys1001Asn)
c.2211A>C (p.Lys737Asn)
8g.60849126A>GCA460848465CHD7c.5376A>G (p.Lys1792=)
c.1717-13103A>G (n.1717-13103A>G)
c.5466A>G (p.Lys1822=)
c.3453A>G (p.Lys1151=)
c.3003A>G (p.Lys1001=)
c.2211A>G (p.Lys737=)
8g.60849126A>TCA371321258CHD7c.5376A>T (p.Lys1792Asn)
c.1717-13103A>T (n.1717-13103A>T)
c.5466A>T (p.Lys1822Asn)
c.3453A>T (p.Lys1151Asn)
c.3003A>T (p.Lys1001Asn)
c.2211A>T (p.Lys737Asn)
8g.60849127T>ACA371321260CHD7c.5377T>A (p.Ser1793Thr)
c.1717-13102T>A (n.1717-13102T>A)
c.5467T>A (p.Ser1823Thr)
c.3454T>A (p.Ser1152Thr)
c.3004T>A (p.Ser1002Thr)
c.2212T>A (p.Ser738Thr)
8g.60849127T>CCA371321262CHD7c.5377T>C (p.Ser1793Pro)
c.1717-13102T>C (n.1717-13102T>C)
c.5467T>C (p.Ser1823Pro)
c.3454T>C (p.Ser1152Pro)
c.3004T>C (p.Ser1002Pro)
c.2212T>C (p.Ser738Pro)
8g.60849127T>GCA371321263CHD7c.5377T>G (p.Ser1793Ala)
c.1717-13102T>G (n.1717-13102T>G)
c.5467T>G (p.Ser1823Ala)
c.3454T>G (p.Ser1152Ala)
c.3004T>G (p.Ser1002Ala)
c.2212T>G (p.Ser738Ala)
 gnomAD v4
8g.60849128C>ACA371321265CHD7c.5378C>A (p.Ser1793Tyr)
c.1717-13101C>A (n.1717-13101C>A)
c.5468C>A (p.Ser1823Tyr)
c.3455C>A (p.Ser1152Tyr)
c.3005C>A (p.Ser1002Tyr)
c.2213C>A (p.Ser738Tyr)
8g.60849128C>GCA371321266CHD7c.5378C>G (p.Ser1793Cys)
c.1717-13101C>G (n.1717-13101C>G)
c.5468C>G (p.Ser1823Cys)
c.3455C>G (p.Ser1152Cys)
c.3005C>G (p.Ser1002Cys)
c.2213C>G (p.Ser738Cys)
 gnomAD v4
8g.60849128C>TCA371321268CHD7c.5378C>T (p.Ser1793Phe)
c.1717-13101C>T (n.1717-13101C>T)
c.5468C>T (p.Ser1823Phe)
c.3455C>T (p.Ser1152Phe)
c.3005C>T (p.Ser1002Phe)
c.2213C>T (p.Ser738Phe)
8g.60849129C>ACA460848466CHD7c.5379C>A (p.Ser1793=)
c.1717-13100C>A (n.1717-13100C>A)
c.5469C>A (p.Ser1823=)
c.3456C>A (p.Ser1152=)
c.3006C>A (p.Ser1002=)
c.2214C>A (p.Ser738=)
8g.60849129C>GCA460848467CHD7c.5379C>G (p.Ser1793=)
c.1717-13100C>G (n.1717-13100C>G)
c.5469C>G (p.Ser1823=)
c.3456C>G (p.Ser1152=)
c.3006C>G (p.Ser1002=)
c.2214C>G (p.Ser738=)
8g.60849129C>TCA460848468CHD7c.5379C>T (p.Ser1793=)
c.1717-13100C>T (n.1717-13100C>T)
c.5469C>T (p.Ser1823=)
c.3456C>T (p.Ser1152=)
c.3006C>T (p.Ser1002=)
c.2214C>T (p.Ser738=)
 ClinVar gnomAD v4

Number of alleles fetched