Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.60821993C>ACA4759840CHD7c.2836-31C>A (n.2836-31C>A)
c.1717-40236C>A (n.1717-40236C>A)
c.823-31C>A (n.823-31C>A)
c.373-31C>A (n.373-31C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60821993C=CA1788142811CHD7c.2836-31C= (n.2836-31C=)
c.1717-40236C= (n.1717-40236C=)
c.823-31C= (n.823-31C=)
c.373-31C= (n.373-31C=)
8g.60821993C>TCA4759839CHD7c.2836-31C>T (n.2836-31C>T)
c.1717-40236C>T (n.1717-40236C>T)
c.823-31C>T (n.823-31C>T)
c.373-31C>T (n.373-31C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60821994C=CA1788142813CHD7c.2836-30C= (n.2836-30C=)
c.1717-40235C= (n.1717-40235C=)
c.823-30C= (n.823-30C=)
c.373-30C= (n.373-30C=)
8g.60821994C>TCA177334339CHD7c.2836-30C>T (n.2836-30C>T)
c.1717-40235C>T (n.1717-40235C>T)
c.823-30C>T (n.823-30C>T)
c.373-30C>T (n.373-30C>T)
 dbSNP gnomAD v2 gnomAD v4
8g.60821995A=CA1788142815CHD7c.2836-29A= (n.2836-29A=)
c.1717-40234A= (n.1717-40234A=)
c.823-29A= (n.823-29A=)
c.373-29A= (n.373-29A=)
8g.60821995A>GCA177334340CHD7c.2836-29A>G (n.2836-29A>G)
c.1717-40234A>G (n.1717-40234A>G)
c.823-29A>G (n.823-29A>G)
c.373-29A>G (n.373-29A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60821997T>CCA4759841CHD7c.2836-27T>C (n.2836-27T>C)
c.1717-40232T>C (n.1717-40232T>C)
c.823-27T>C (n.823-27T>C)
c.373-27T>C (n.373-27T>C)
 dbSNP ExAC gnomAD v3 gnomAD v4
8g.60821997T=CA1788142820CHD7c.2836-27T= (n.2836-27T=)
c.1717-40232T= (n.1717-40232T=)
c.823-27T= (n.823-27T=)
c.373-27T= (n.373-27T=)
8g.60822000T>GCA2579191670CHD7c.2836-24T>G (n.2836-24T>G)
c.1717-40229T>G (n.1717-40229T>G)
c.823-24T>G (n.823-24T>G)
c.373-24T>G (n.373-24T>G)
 gnomAD v4
8g.60822001G>ACA4759842CHD7c.2836-23G>A (n.2836-23G>A)
c.1717-40228G>A (n.1717-40228G>A)
c.823-23G>A (n.823-23G>A)
c.373-23G>A (n.373-23G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60822001G=CA1788142825CHD7c.2836-23G= (n.2836-23G=)
c.1717-40228G= (n.1717-40228G=)
c.823-23G= (n.823-23G=)
c.373-23G= (n.373-23G=)
8g.60822002G>ACA2544036513CHD7c.2836-22G>A (n.2836-22G>A)
c.1717-40227G>A (n.1717-40227G>A)
c.823-22G>A (n.823-22G>A)
c.373-22G>A (n.373-22G>A)
 gnomAD v4
8g.60822004A=CA1788142827CHD7c.2836-20A= (n.2836-20A=)
c.1717-40225A= (n.1717-40225A=)
c.823-20A= (n.823-20A=)
c.373-20A= (n.373-20A=)
8g.60822004A>TCA581977582CHD7c.2836-20A>T (n.2836-20A>T)
c.1717-40225A>T (n.1717-40225A>T)
c.823-20A>T (n.823-20A>T)
c.373-20A>T (n.373-20A>T)
 dbSNP gnomAD v2 gnomAD v4
8g.60822004_60822005insCTCA1788142828CHD7c.2836-20_2836-19insCT (n.2836-20_2836-19insCT)
c.1717-40225_1717-40224insCT (n.1717-40225_1717-40224insCT)
c.823-20_823-19insCT (n.823-20_823-19insCT)
c.373-20_373-19insCT (n.373-20_373-19insCT)
 dbSNP
8g.60822007T>ACA4759843CHD7c.2836-17T>A (n.2836-17T>A)
c.1717-40222T>A (n.1717-40222T>A)
c.823-17T>A (n.823-17T>A)
c.373-17T>A (n.373-17T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60822007T=CA1788142830CHD7c.2836-17T= (n.2836-17T=)
c.1717-40222T= (n.1717-40222T=)
c.823-17T= (n.823-17T=)
c.373-17T= (n.373-17T=)
8g.60822008A=CA1788142832CHD7c.2836-16A= (n.2836-16A=)
c.1717-40221A= (n.1717-40221A=)
c.823-16A= (n.823-16A=)
c.373-16A= (n.373-16A=)
8g.60822008A>CCA2687397752CHD7c.2836-16A>C (n.2836-16A>C)
c.1717-40221A>C (n.1717-40221A>C)
c.823-16A>C (n.823-16A>C)
c.373-16A>C (n.373-16A>C)
 ClinVar gnomAD v4
8g.60822008A>GCA1788142831CHD7c.2836-16A>G (n.2836-16A>G)
c.1717-40221A>G (n.1717-40221A>G)
c.823-16A>G (n.823-16A>G)
c.373-16A>G (n.373-16A>G)
 ClinVar dbSNP gnomAD v4
8g.60822009C=CA1788142835CHD7c.2836-15C= (n.2836-15C=)
c.1717-40220C= (n.1717-40220C=)
c.823-15C= (n.823-15C=)
c.373-15C= (n.373-15C=)
8g.60822009C>GCA658655588CHD7c.2836-15C>G (n.2836-15C>G)
c.1717-40220C>G (n.1717-40220C>G)
c.823-15C>G (n.823-15C>G)
c.373-15C>G (n.373-15C>G)
8g.60822009C>TCA581977583CHD7c.2836-15C>T (n.2836-15C>T)
c.1717-40220C>T (n.1717-40220C>T)
c.823-15C>T (n.823-15C>T)
c.373-15C>T (n.373-15C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60822010T>CCA2687397753CHD7c.2836-14T>C (n.2836-14T>C)
c.1717-40219T>C (n.1717-40219T>C)
c.823-14T>C (n.823-14T>C)
c.373-14T>C (n.373-14T>C)
 gnomAD v4
8g.60822011A=CA1788142837CHD7c.2836-13A= (n.2836-13A=)
c.1717-40218A= (n.1717-40218A=)
c.823-13A= (n.823-13A=)
c.373-13A= (n.373-13A=)
8g.60822011A>GCA4759844CHD7c.2836-13A>G (n.2836-13A>G)
c.1717-40218A>G (n.1717-40218A>G)
c.823-13A>G (n.823-13A>G)
c.373-13A>G (n.373-13A>G)
 ClinVar dbSNP ExAC gnomAD v2
8g.60822013A>GCA2687397754CHD7c.2836-11A>G (n.2836-11A>G)
c.1717-40216A>G (n.1717-40216A>G)
c.823-11A>G (n.823-11A>G)
c.373-11A>G (n.373-11A>G)
 gnomAD v4
8g.60822014T>ACA2579191672CHD7c.2836-10T>A (n.2836-10T>A)
c.1717-40215T>A (n.1717-40215T>A)
c.823-10T>A (n.823-10T>A)
c.373-10T>A (n.373-10T>A)
 ClinVar
8g.60822015T>ACA2687397755CHD7c.2836-9T>A (n.2836-9T>A)
c.1717-40214T>A (n.1717-40214T>A)
c.823-9T>A (n.823-9T>A)
c.373-9T>A (n.373-9T>A)
 gnomAD v4
8g.60822018A=CA1788142839CHD7c.2836-6A= (n.2836-6A=)
c.1717-40211A= (n.1717-40211A=)
c.823-6A= (n.823-6A=)
c.373-6A= (n.373-6A=)
8g.60822018A>GCA1788142840CHD7c.2836-6A>G (n.2836-6A>G)
c.1717-40211A>G (n.1717-40211A>G)
c.823-6A>G (n.823-6A>G)
c.373-6A>G (n.373-6A>G)
 dbSNP gnomAD v4
8g.60822018A>TCA2780535345CHD7c.2836-6A>T (n.2836-6A>T)
c.1717-40211A>T (n.1717-40211A>T)
c.823-6A>T (n.823-6A>T)
c.373-6A>T (n.373-6A>T)
8g.60822019A=CA1788142842CHD7c.2836-5A= (n.2836-5A=)
c.1717-40210A= (n.1717-40210A=)
c.823-5A= (n.823-5A=)
c.373-5A= (n.373-5A=)
8g.60822019A>GCA4759845CHD7c.2836-5A>G (n.2836-5A>G)
c.1717-40210A>G (n.1717-40210A>G)
c.823-5A>G (n.823-5A>G)
c.373-5A>G (n.373-5A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60822021C>TCA2687397756CHD7c.2836-3C>T (n.2836-3C>T)
c.1717-40208C>T (n.1717-40208C>T)
c.823-3C>T (n.823-3C>T)
c.373-3C>T (n.373-3C>T)
 gnomAD v4
8g.60822022A=CA1788142845CHD7c.2836-2A= (n.2836-2A=)
c.1717-40207A= (n.1717-40207A=)
c.823-2A= (n.823-2A=)
c.373-2A= (n.373-2A=)
8g.60822022A>CCA371308075CHD7c.2836-2A>C (n.2836-2A>C)
c.1717-40207A>C (n.1717-40207A>C)
c.823-2A>C (n.823-2A>C)
c.373-2A>C (n.373-2A>C)
8g.60822022A>GCA371308076CHD7c.2836-2A>G (n.2836-2A>G)
c.1717-40207A>G (n.1717-40207A>G)
c.823-2A>G (n.823-2A>G)
c.373-2A>G (n.373-2A>G)
8g.60822022A>TCA10582585CHD7c.2836-2A>T (n.2836-2A>T)
c.1717-40207A>T (n.1717-40207A>T)
c.823-2A>T (n.823-2A>T)
c.373-2A>T (n.373-2A>T)
 ClinVar dbSNP
8g.60822023G>ACA371308079CHD7c.2836-1G>A (n.2836-1G>A)
c.1717-40206G>A (n.1717-40206G>A)
c.823-1G>A (n.823-1G>A)
c.373-1G>A (n.373-1G>A)
 ClinVar dbSNP
8g.60822023G>CCA371308080CHD7c.2836-1G>C (n.2836-1G>C)
c.1717-40206G>C (n.1717-40206G>C)
c.823-1G>C (n.823-1G>C)
c.373-1G>C (n.373-1G>C)
8g.60822023G=CA1788142849CHD7c.2836-1G= (n.2836-1G=)
c.1717-40206G= (n.1717-40206G=)
c.823-1G= (n.823-1G=)
c.373-1G= (n.373-1G=)
8g.60822023G>TCA371308082CHD7c.2836-1G>T (n.2836-1G>T)
c.1717-40206G>T (n.1717-40206G>T)
c.823-1G>T (n.823-1G>T)
c.373-1G>T (n.373-1G>T)
8g.60822024delCA2695209640CHD7c.2836del
c.1717-40205del (n.1717-40205del)
c.823del
c.373del
8g.60822024G>ACA371308084CHD7c.2836G>A (p.Glu946Lys)
c.1717-40205G>A (n.1717-40205G>A)
c.823G>A (p.Glu275Lys)
c.373G>A (p.Glu125Lys)
8g.60822024G>CCA371308085CHD7c.2836G>C (p.Glu946Gln)
c.1717-40205G>C (n.1717-40205G>C)
c.823G>C (p.Glu275Gln)
c.373G>C (p.Glu125Gln)
 dbSNP gnomAD v2 gnomAD v4
8g.60822024G=CA1788142854CHD7c.2836G= (p.Glu946=)
c.1717-40205G= (n.1717-40205G=)
c.823G= (p.Glu275=)
c.373G= (p.Glu125=)
8g.60822024G>TCA371308087CHD7c.2836G>T (p.Glu946Ter)
c.1717-40205G>T (n.1717-40205G>T)
c.823G>T (p.Glu275Ter)
c.373G>T (p.Glu125Ter)
8g.60822025A>CCA371308089CHD7c.2837A>C (p.Glu946Ala)
c.1717-40204A>C (n.1717-40204A>C)
c.824A>C (p.Glu275Ala)
c.374A>C (p.Glu125Ala)
8g.60822025A>GCA371308092CHD7c.2837A>G (p.Glu946Gly)
c.1717-40204A>G (n.1717-40204A>G)
c.824A>G (p.Glu275Gly)
c.374A>G (p.Glu125Gly)
8g.60822025A>TCA371308091CHD7c.2837A>T (p.Glu946Val)
c.1717-40204A>T (n.1717-40204A>T)
c.824A>T (p.Glu275Val)
c.374A>T (p.Glu125Val)
8g.60822026G>ACA460845768CHD7c.2838G>A (p.Glu946=)
c.1717-40203G>A (n.1717-40203G>A)
c.825G>A (p.Glu275=)
c.375G>A (p.Glu125=)
 dbSNP
8g.60822026G>CCA371308094CHD7c.2838G>C (p.Glu946Asp)
c.1717-40203G>C (n.1717-40203G>C)
c.825G>C (p.Glu275Asp)
c.375G>C (p.Glu125Asp)
8g.60822026G=CA1788142857CHD7c.2838G= (p.Glu946=)
c.1717-40203G= (n.1717-40203G=)
c.825G= (p.Glu275=)
c.375G= (p.Glu125=)
8g.60822026G>TCA371308095CHD7c.2838G>T (p.Glu946Asp)
c.1717-40203G>T (n.1717-40203G>T)
c.825G>T (p.Glu275Asp)
c.375G>T (p.Glu125Asp)
8g.60822027C>ACA4759846CHD7c.2839C>A (p.Arg947=)
c.1717-40202C>A (n.1717-40202C>A)
c.826C>A (p.Arg276=)
c.376C>A (p.Arg126=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60822027C=CA1788142862CHD7c.2839C= (p.Arg947=)
c.1717-40202C= (n.1717-40202C=)
c.826C= (p.Arg276=)
c.376C= (p.Arg126=)
8g.60822027C>GCA371308098CHD7c.2839C>G (p.Arg947Gly)
c.1717-40202C>G (n.1717-40202C>G)
c.826C>G (p.Arg276Gly)
c.376C>G (p.Arg126Gly)
8g.60822027C>TCA223282CHD7c.2839C>T (p.Arg947Ter)
c.1717-40202C>T (n.1717-40202C>T)
c.826C>T (p.Arg276Ter)
c.376C>T (p.Arg126Ter)
 ClinVar dbSNP COSMIC
8g.60822028G>ACA4759847CHD7c.2840G>A (p.Arg947Gln)
c.1717-40201G>A (n.1717-40201G>A)
c.827G>A (p.Arg276Gln)
c.377G>A (p.Arg126Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60822028G>CCA371308101CHD7c.2840G>C (p.Arg947Pro)
c.1717-40201G>C (n.1717-40201G>C)
c.827G>C (p.Arg276Pro)
c.377G>C (p.Arg126Pro)
8g.60822028G=CA1788142871CHD7c.2840G= (p.Arg947=)
c.1717-40201G= (n.1717-40201G=)
c.827G= (p.Arg276=)
c.377G= (p.Arg126=)
8g.60822028G>TCA371308100CHD7c.2840G>T (p.Arg947Leu)
c.1717-40201G>T (n.1717-40201G>T)
c.827G>T (p.Arg276Leu)
c.377G>T (p.Arg126Leu)
8g.60822029A>CCA460845769CHD7c.2841A>C (p.Arg947=)
c.1717-40200A>C (n.1717-40200A>C)
c.828A>C (p.Arg276=)
c.378A>C (p.Arg126=)
8g.60822029A>GCA460845770CHD7c.2841A>G (p.Arg947=)
c.1717-40200A>G (n.1717-40200A>G)
c.828A>G (p.Arg276=)
c.378A>G (p.Arg126=)
8g.60822029A>TCA460845771CHD7c.2841A>T (p.Arg947=)
c.1717-40200A>T (n.1717-40200A>T)
c.828A>T (p.Arg276=)
c.378A>T (p.Arg126=)
8g.60822030C>ACA371308104CHD7c.2842C>A (p.Pro948Thr)
c.1717-40199C>A (n.1717-40199C>A)
c.829C>A (p.Pro277Thr)
c.379C>A (p.Pro127Thr)
8g.60822030C=CA1788142875CHD7c.2842C= (p.Pro948=)
c.1717-40199C= (n.1717-40199C=)
c.829C= (p.Pro277=)
c.379C= (p.Pro127=)
8g.60822030C>GCA371308105CHD7c.2842C>G (p.Pro948Ala)
c.1717-40199C>G (n.1717-40199C>G)
c.829C>G (p.Pro277Ala)
c.379C>G (p.Pro127Ala)
8g.60822030C>TCA371308107CHD7c.2842C>T (p.Pro948Ser)
c.1717-40199C>T (n.1717-40199C>T)
c.829C>T (p.Pro277Ser)
c.379C>T (p.Pro127Ser)
 dbSNP
8g.60822033_60822035delCA2687397757CHD7c.2845_2847del (p.Pro949del)
c.1717-40196_1717-40194del (n.1717-40196_1717-40194del)
c.832_834del (p.Pro278del)
c.382_384del (p.Pro128del)
 gnomAD v4
8g.60822031C>ACA371308109CHD7c.2843C>A (p.Pro948His)
c.1717-40198C>A (n.1717-40198C>A)
c.830C>A (p.Pro277His)
c.380C>A (p.Pro127His)
8g.60822031C>GCA371308110CHD7c.2843C>G (p.Pro948Arg)
c.1717-40198C>G (n.1717-40198C>G)
c.830C>G (p.Pro277Arg)
c.380C>G (p.Pro127Arg)
8g.60822031C>TCA371308112CHD7c.2843C>T (p.Pro948Leu)
c.1717-40198C>T (n.1717-40198C>T)
c.830C>T (p.Pro277Leu)
c.380C>T (p.Pro127Leu)
 gnomAD v4
8g.60822032T>ACA460845773CHD7c.2844T>A (p.Pro948=)
c.1717-40197T>A (n.1717-40197T>A)
c.831T>A (p.Pro277=)
c.381T>A (p.Pro127=)
8g.60822032T>CCA460845774CHD7c.2844T>C (p.Pro948=)
c.1717-40197T>C (n.1717-40197T>C)
c.831T>C (p.Pro277=)
c.381T>C (p.Pro127=)
8g.60822032T>GCA460845772CHD7c.2844T>G (p.Pro948=)
c.1717-40197T>G (n.1717-40197T>G)
c.831T>G (p.Pro277=)
c.381T>G (p.Pro127=)
8g.60822032_60822033delinsTCCA1788142879CHD7c.2844_2845delinsTC (p.Pro948=)
c.1717-40197_1717-40196delinsTC (n.1717-40197_1717-40196delinsTC)
c.831_832delinsTC (p.Pro277=)
c.381_382delinsTC (p.Pro127=)
8g.60822033C>ACA371308114CHD7c.2845C>A (p.Pro949Thr)
c.1717-40196C>A (n.1717-40196C>A)
c.832C>A (p.Pro278Thr)
c.382C>A (p.Pro128Thr)
8g.60822033C=CA1788142884CHD7c.2845C= (p.Pro949=)
c.1717-40196C= (n.1717-40196C=)
c.832C= (p.Pro278=)
c.382C= (p.Pro128=)
8g.60822033C>GCA371308116CHD7c.2845C>G (p.Pro949Ala)
c.1717-40196C>G (n.1717-40196C>G)
c.832C>G (p.Pro278Ala)
c.382C>G (p.Pro128Ala)
8g.60822033C>TCA4759848CHD7c.2845C>T (p.Pro949Ser)
c.1717-40196C>T (n.1717-40196C>T)
c.832C>T (p.Pro278Ser)
c.382C>T (p.Pro128Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60822034delCA915945716CHD7c.2846del (p.Pro949LeufsTer28)
c.1717-40195del (n.1717-40195del)
c.833del (p.Pro278LeufsTer28)
c.383del (p.Pro128LeufsTer28)
 ClinVar dbSNP
8g.60822034C>ACA371308118CHD7c.2846C>A (p.Pro949His)
c.1717-40195C>A (n.1717-40195C>A)
c.833C>A (p.Pro278His)
c.383C>A (p.Pro128His)
8g.60822034C>GCA371308119CHD7c.2846C>G (p.Pro949Arg)
c.1717-40195C>G (n.1717-40195C>G)
c.833C>G (p.Pro278Arg)
c.383C>G (p.Pro128Arg)
8g.60822034C>TCA371308121CHD7c.2846C>T (p.Pro949Leu)
c.1717-40195C>T (n.1717-40195C>T)
c.833C>T (p.Pro278Leu)
c.383C>T (p.Pro128Leu)
8g.60822035T>ACA460845775CHD7c.2847T>A (p.Pro949=)
c.1717-40194T>A (n.1717-40194T>A)
c.834T>A (p.Pro278=)
c.384T>A (p.Pro128=)
8g.60822035T>CCA460845776CHD7c.2847T>C (p.Pro949=)
c.1717-40194T>C (n.1717-40194T>C)
c.834T>C (p.Pro278=)
c.384T>C (p.Pro128=)
8g.60822035T>GCA460845777CHD7c.2847T>G (p.Pro949=)
c.1717-40194T>G (n.1717-40194T>G)
c.834T>G (p.Pro278=)
c.384T>G (p.Pro128=)
8g.60822035_60822036delinsTGCA1788142887CHD7c.2847_2848delinsTG (p.Pro949=)
c.1717-40194_1717-40193delinsTG (n.1717-40194_1717-40193delinsTG)
c.834_835delinsTG (p.Pro278=)
c.384_385delinsTG (p.Pro128=)
8g.60822036delCA10605899CHD7c.2848del (p.Ala950LeufsTer27)
c.1717-40193del (n.1717-40193del)
c.835del (p.Ala279LeufsTer27)
c.385del (p.Ala129LeufsTer27)
 ClinVar dbSNP
8g.60822036G>ACA4759849CHD7c.2848G>A (p.Ala950Thr)
c.1717-40193G>A (n.1717-40193G>A)
c.835G>A (p.Ala279Thr)
c.385G>A (p.Ala129Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60822036G>CCA371308124CHD7c.2848G>C (p.Ala950Pro)
c.1717-40193G>C (n.1717-40193G>C)
c.835G>C (p.Ala279Pro)
c.385G>C (p.Ala129Pro)
8g.60822036G=CA1788142895CHD7c.2848G= (p.Ala950=)
c.1717-40193G= (n.1717-40193G=)
c.835G= (p.Ala279=)
c.385G= (p.Ala129=)
8g.60822036G>TCA371308125CHD7c.2848G>T (p.Ala950Ser)
c.1717-40193G>T (n.1717-40193G>T)
c.835G>T (p.Ala279Ser)
c.385G>T (p.Ala129Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60822037C>ACA371308128CHD7c.2849C>A (p.Ala950Asp)
c.1717-40192C>A (n.1717-40192C>A)
c.836C>A (p.Ala279Asp)
c.386C>A (p.Ala129Asp)
 gnomAD v4
8g.60822037C>GCA371308130CHD7c.2849C>G (p.Ala950Gly)
c.1717-40192C>G (n.1717-40192C>G)
c.836C>G (p.Ala279Gly)
c.386C>G (p.Ala129Gly)
8g.60822037C>TCA371308131CHD7c.2849C>T (p.Ala950Val)
c.1717-40192C>T (n.1717-40192C>T)
c.836C>T (p.Ala279Val)
c.386C>T (p.Ala129Val)
 ClinVar gnomAD v4
8g.60822038delCA2695209641CHD7c.2850del (p.Asp951MetfsTer26)
c.1717-40191del (n.1717-40191del)
c.837del (p.Asp280MetfsTer26)
c.387del (p.Asp130MetfsTer26)
8g.60822038T>ACA460845780CHD7c.2850T>A (p.Ala950=)
c.1717-40191T>A (n.1717-40191T>A)
c.837T>A (p.Ala279=)
c.387T>A (p.Ala129=)
8g.60822038T>CCA460845779CHD7c.2850T>C (p.Ala950=)
c.1717-40191T>C (n.1717-40191T>C)
c.837T>C (p.Ala279=)
c.387T>C (p.Ala129=)
 ClinVar dbSNP
8g.60822038T>GCA460845778CHD7c.2850T>G (p.Ala950=)
c.1717-40191T>G (n.1717-40191T>G)
c.837T>G (p.Ala279=)
c.387T>G (p.Ala129=)
8g.60822038T=CA1788142901CHD7c.2850T= (p.Ala950=)
c.1717-40191T= (n.1717-40191T=)
c.837T= (p.Ala279=)
c.387T= (p.Ala129=)
8g.60822039G>ACA371308133CHD7c.2851G>A (p.Asp951Asn)
c.1717-40190G>A (n.1717-40190G>A)
c.838G>A (p.Asp280Asn)
c.388G>A (p.Asp130Asn)
 dbSNP gnomAD v4
8g.60822039G>CCA371308137CHD7c.2851G>C (p.Asp951His)
c.1717-40190G>C (n.1717-40190G>C)
c.838G>C (p.Asp280His)
c.388G>C (p.Asp130His)
8g.60822039G=CA1788142906CHD7c.2851G= (p.Asp951=)
c.1717-40190G= (n.1717-40190G=)
c.838G= (p.Asp280=)
c.388G= (p.Asp130=)
8g.60822039G>TCA371308135CHD7c.2851G>T (p.Asp951Tyr)
c.1717-40190G>T (n.1717-40190G>T)
c.838G>T (p.Asp280Tyr)
c.388G>T (p.Asp130Tyr)
8g.60822040A=CA1788142909CHD7c.2852A= (p.Asp951=)
c.1717-40189A= (n.1717-40189A=)
c.839A= (p.Asp280=)
c.389A= (p.Asp130=)
8g.60822040A>CCA371308139CHD7c.2852A>C (p.Asp951Ala)
c.1717-40189A>C (n.1717-40189A>C)
c.839A>C (p.Asp280Ala)
c.389A>C (p.Asp130Ala)
8g.60822040A>GCA4759850CHD7c.2852A>G (p.Asp951Gly)
c.1717-40189A>G (n.1717-40189A>G)
c.839A>G (p.Asp280Gly)
c.389A>G (p.Asp130Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.60822040A>TCA371308141CHD7c.2852A>T (p.Asp951Val)
c.1717-40189A>T (n.1717-40189A>T)
c.839A>T (p.Asp280Val)
c.389A>T (p.Asp130Val)
 ClinVar dbSNP gnomAD v4
8g.60822041T>ACA371308143CHD7c.2853T>A (p.Asp951Glu)
c.1717-40188T>A (n.1717-40188T>A)
c.840T>A (p.Asp280Glu)
c.390T>A (p.Asp130Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.60822041T>CCA460845781CHD7c.2853T>C (p.Asp951=)
c.1717-40188T>C (n.1717-40188T>C)
c.840T>C (p.Asp280=)
c.390T>C (p.Asp130=)
8g.60822041T>GCA371308144CHD7c.2853T>G (p.Asp951Glu)
c.1717-40188T>G (n.1717-40188T>G)
c.840T>G (p.Asp280Glu)
c.390T>G (p.Asp130Glu)
8g.60822041T=CA1788142915CHD7c.2853T= (p.Asp951=)
c.1717-40188T= (n.1717-40188T=)
c.840T= (p.Asp280=)
c.390T= (p.Asp130=)
8g.60822042G>ACA371308146CHD7c.2854G>A (p.Asp952Asn)
c.1717-40187G>A (n.1717-40187G>A)
c.841G>A (p.Asp281Asn)
c.391G>A (p.Asp131Asn)
 COSMIC
8g.60822042G>CCA371308148CHD7c.2854G>C (p.Asp952His)
c.1717-40187G>C (n.1717-40187G>C)
c.841G>C (p.Asp281His)
c.391G>C (p.Asp131His)
8g.60822042G>TCA371308150CHD7c.2854G>T (p.Asp952Tyr)
c.1717-40187G>T (n.1717-40187G>T)
c.841G>T (p.Asp281Tyr)
c.391G>T (p.Asp131Tyr)
8g.60822043A>CCA371308155CHD7c.2855A>C (p.Asp952Ala)
c.1717-40186A>C (n.1717-40186A>C)
c.842A>C (p.Asp281Ala)
c.392A>C (p.Asp131Ala)
8g.60822043A>GCA371308153CHD7c.2855A>G (p.Asp952Gly)
c.1717-40186A>G (n.1717-40186A>G)
c.842A>G (p.Asp281Gly)
c.392A>G (p.Asp131Gly)
8g.60822043A>TCA371308152CHD7c.2855A>T (p.Asp952Val)
c.1717-40186A>T (n.1717-40186A>T)
c.842A>T (p.Asp281Val)
c.392A>T (p.Asp131Val)
8g.60822044T>ACA371308157CHD7c.2856T>A (p.Asp952Glu)
c.1717-40185T>A (n.1717-40185T>A)
c.843T>A (p.Asp281Glu)
c.393T>A (p.Asp131Glu)
8g.60822044T>CCA4759851CHD7c.2856T>C (p.Asp952=)
c.1717-40185T>C (n.1717-40185T>C)
c.843T>C (p.Asp281=)
c.393T>C (p.Asp131=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60822044T>GCA371308159CHD7c.2856T>G (p.Asp952Glu)
c.1717-40185T>G (n.1717-40185T>G)
c.843T>G (p.Asp281Glu)
c.393T>G (p.Asp131Glu)
8g.60822044T=CA1788142919CHD7c.2856T= (p.Asp952=)
c.1717-40185T= (n.1717-40185T=)
c.843T= (p.Asp281=)
c.393T= (p.Asp131=)
8g.60822045delCA460845782CHD7c.2857del (p.Trp953GlyfsTer24)
c.1717-40184del (n.1717-40184del)
c.844del (p.Trp282GlyfsTer24)
c.394del (p.Trp132GlyfsTer24)
8g.60822045T>ACA371308161CHD7c.2857T>A (p.Trp953Arg)
c.1717-40184T>A (n.1717-40184T>A)
c.844T>A (p.Trp282Arg)
c.394T>A (p.Trp132Arg)
8g.60822045T>CCA371308163CHD7c.2857T>C (p.Trp953Arg)
c.1717-40184T>C (n.1717-40184T>C)
c.844T>C (p.Trp282Arg)
c.394T>C (p.Trp132Arg)
8g.60822045T>GCA371308165CHD7c.2857T>G (p.Trp953Gly)
c.1717-40184T>G (n.1717-40184T>G)
c.844T>G (p.Trp282Gly)
c.394T>G (p.Trp132Gly)
8g.60822046G>ACA371308168CHD7c.2858G>A (p.Trp953Ter)
c.1717-40183G>A (n.1717-40183G>A)
c.845G>A (p.Trp282Ter)
c.395G>A (p.Trp132Ter)
 ClinVar dbSNP
8g.60822046G>CCA371308174CHD7c.2858G>C (p.Trp953Ser)
c.1717-40183G>C (n.1717-40183G>C)
c.845G>C (p.Trp282Ser)
c.395G>C (p.Trp132Ser)
8g.60822046G=CA1788142927CHD7c.2858G= (p.Trp953=)
c.1717-40183G= (n.1717-40183G=)
c.845G= (p.Trp282=)
c.395G= (p.Trp132=)
8g.60822046G>TCA371308171CHD7c.2858G>T (p.Trp953Leu)
c.1717-40183G>T (n.1717-40183G>T)
c.845G>T (p.Trp282Leu)
c.395G>T (p.Trp132Leu)
8g.60822047delCA2695209642CHD7c.2859del (p.Trp953Ter)
c.1717-40182del (n.1717-40182del)
c.846del (p.Trp282Ter)
c.396del (p.Trp132Ter)
8g.60822047G>ACA371308178CHD7c.2859G>A (p.Trp953Ter)
c.1717-40182G>A (n.1717-40182G>A)
c.846G>A (p.Trp282Ter)
c.396G>A (p.Trp132Ter)
8g.60822047G>CCA371308181CHD7c.2859G>C (p.Trp953Cys)
c.1717-40182G>C (n.1717-40182G>C)
c.846G>C (p.Trp282Cys)
c.396G>C (p.Trp132Cys)
8g.60822047G>TCA371308184CHD7c.2859G>T (p.Trp953Cys)
c.1717-40182G>T (n.1717-40182G>T)
c.846G>T (p.Trp282Cys)
c.396G>T (p.Trp132Cys)
8g.60822048A>CCA371308186CHD7c.2860A>C (p.Lys954Gln)
c.1717-40181A>C (n.1717-40181A>C)
c.847A>C (p.Lys283Gln)
c.397A>C (p.Lys133Gln)
8g.60822048A>GCA371308188CHD7c.2860A>G (p.Lys954Glu)
c.1717-40181A>G (n.1717-40181A>G)
c.847A>G (p.Lys283Glu)
c.397A>G (p.Lys133Glu)
8g.60822048A>TCA371308190CHD7c.2860A>T (p.Lys954Ter)
c.1717-40181A>T (n.1717-40181A>T)
c.847A>T (p.Lys283Ter)
c.397A>T (p.Lys133Ter)
8g.60822049A=CA1788142931CHD7c.2861A= (p.Lys954=)
c.1717-40180A= (n.1717-40180A=)
c.848A= (p.Lys283=)
c.398A= (p.Lys133=)
8g.60822049A>CCA371308192CHD7c.2861A>C (p.Lys954Thr)
c.1717-40180A>C (n.1717-40180A>C)
c.848A>C (p.Lys283Thr)
c.398A>C (p.Lys133Thr)
8g.60822049A>GCA371308194CHD7c.2861A>G (p.Lys954Arg)
c.1717-40180A>G (n.1717-40180A>G)
c.848A>G (p.Lys283Arg)
c.398A>G (p.Lys133Arg)
 dbSNP
8g.60822049A>TCA371308196CHD7c.2861A>T (p.Lys954Met)
c.1717-40180A>T (n.1717-40180A>T)
c.848A>T (p.Lys283Met)
c.398A>T (p.Lys133Met)
8g.60822050G>ACA460845783CHD7c.2862G>A (p.Lys954=)
c.1717-40179G>A (n.1717-40179G>A)
c.849G>A (p.Lys283=)
c.399G>A (p.Lys133=)
 COSMIC
8g.60822050G>CCA371308198CHD7c.2862G>C (p.Lys954Asn)
c.1717-40179G>C (n.1717-40179G>C)
c.849G>C (p.Lys283Asn)
c.399G>C (p.Lys133Asn)
8g.60822050G>TCA371308201CHD7c.2862G>T (p.Lys954Asn)
c.1717-40179G>T (n.1717-40179G>T)
c.849G>T (p.Lys283Asn)
c.399G>T (p.Lys133Asn)
8g.60822051A>CCA371308205CHD7c.2863A>C (p.Lys955Gln)
c.1717-40178A>C (n.1717-40178A>C)
c.850A>C (p.Lys284Gln)
c.400A>C (p.Lys134Gln)
8g.60822051A>GCA371308209CHD7c.2863A>G (p.Lys955Glu)
c.1717-40178A>G (n.1717-40178A>G)
c.850A>G (p.Lys284Glu)
c.400A>G (p.Lys134Glu)
8g.60822051A>TCA371308206CHD7c.2863A>T (p.Lys955Ter)
c.1717-40178A>T (n.1717-40178A>T)
c.850A>T (p.Lys284Ter)
c.400A>T (p.Lys134Ter)
8g.60822052A>CCA371308212CHD7c.2864A>C (p.Lys955Thr)
c.1717-40177A>C (n.1717-40177A>C)
c.851A>C (p.Lys284Thr)
c.401A>C (p.Lys134Thr)
8g.60822052A>GCA371308214CHD7c.2864A>G (p.Lys955Arg)
c.1717-40177A>G (n.1717-40177A>G)
c.851A>G (p.Lys284Arg)
c.401A>G (p.Lys134Arg)
8g.60822052A>TCA371308217CHD7c.2864A>T (p.Lys955Ile)
c.1717-40177A>T (n.1717-40177A>T)
c.851A>T (p.Lys284Ile)
c.401A>T (p.Lys134Ile)
8g.60822053A>CCA371308219CHD7c.2865A>C (p.Lys955Asn)
c.1717-40176A>C (n.1717-40176A>C)
c.852A>C (p.Lys284Asn)
c.402A>C (p.Lys134Asn)
8g.60822053A>GCA460845784CHD7c.2865A>G (p.Lys955=)
c.1717-40176A>G (n.1717-40176A>G)
c.852A>G (p.Lys284=)
c.402A>G (p.Lys134=)
8g.60822053A>TCA371308220CHD7c.2865A>T (p.Lys955Asn)
c.1717-40176A>T (n.1717-40176A>T)
c.852A>T (p.Lys284Asn)
c.402A>T (p.Lys134Asn)
8g.60822054T>ACA371308222CHD7c.2866T>A (p.Ser956Thr)
c.1717-40175T>A (n.1717-40175T>A)
c.853T>A (p.Ser285Thr)
c.403T>A (p.Ser135Thr)
8g.60822054T>CCA371308224CHD7c.2866T>C (p.Ser956Pro)
c.1717-40175T>C (n.1717-40175T>C)
c.853T>C (p.Ser285Pro)
c.403T>C (p.Ser135Pro)
8g.60822054T>GCA371308226CHD7c.2866T>G (p.Ser956Ala)
c.1717-40175T>G (n.1717-40175T>G)
c.853T>G (p.Ser285Ala)
c.403T>G (p.Ser135Ala)
8g.60822054_60822055delinsTCCA1788142934CHD7c.2866_2867delinsTC (p.Ser956=)
c.1717-40175_1717-40174delinsTC (n.1717-40175_1717-40174delinsTC)
c.853_854delinsTC (p.Ser285=)
c.403_404delinsTC (p.Ser135=)
8g.60822055delCA1139660545CHD7c.2867del (p.Ser956TrpfsTer21)
c.1717-40174del (n.1717-40174del)
c.854del (p.Ser285TrpfsTer21)
c.404del (p.Ser135TrpfsTer21)
 ClinVar dbSNP
8g.60822055C>ACA371308228CHD7c.2867C>A (p.Ser956Ter)
c.1717-40174C>A (n.1717-40174C>A)
c.854C>A (p.Ser285Ter)
c.404C>A (p.Ser135Ter)
 ClinVar dbSNP
8g.60822055C=CA1788142938CHD7c.2867C= (p.Ser956=)
c.1717-40174C= (n.1717-40174C=)
c.854C= (p.Ser285=)
c.404C= (p.Ser135=)
8g.60822055C>GCA371308229CHD7c.2867C>G (p.Ser956Trp)
c.1717-40174C>G (n.1717-40174C>G)
c.854C>G (p.Ser285Trp)
c.404C>G (p.Ser135Trp)
8g.60822055C>TCA4759852CHD7c.2867C>T (p.Ser956Leu)
c.1717-40174C>T (n.1717-40174C>T)
c.854C>T (p.Ser285Leu)
c.404C>T (p.Ser135Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60822056G>ACA4759853CHD7c.2868G>A (p.Ser956=)
c.1717-40173G>A (n.1717-40173G>A)
c.855G>A (p.Ser285=)
c.405G>A (p.Ser135=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60822056G>CCA460845786CHD7c.2868G>C (p.Ser956=)
c.1717-40173G>C (n.1717-40173G>C)
c.855G>C (p.Ser285=)
c.405G>C (p.Ser135=)
 gnomAD v4
8g.60822056G=CA1788142946CHD7c.2868G= (p.Ser956=)
c.1717-40173G= (n.1717-40173G=)
c.855G= (p.Ser285=)
c.405G= (p.Ser135=)
8g.60822056G>TCA460845785CHD7c.2868G>T (p.Ser956=)
c.1717-40173G>T (n.1717-40173G>T)
c.855G>T (p.Ser285=)
c.405G>T (p.Ser135=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60822057G>ACA371308237CHD7c.2869G>A (p.Glu957Lys)
c.1717-40172G>A (n.1717-40172G>A)
c.856G>A (p.Glu286Lys)
c.406G>A (p.Glu136Lys)
8g.60822057G>CCA371308234CHD7c.2869G>C (p.Glu957Gln)
c.1717-40172G>C (n.1717-40172G>C)
c.856G>C (p.Glu286Gln)
c.406G>C (p.Glu136Gln)
8g.60822057G>TCA371308235CHD7c.2869G>T (p.Glu957Ter)
c.1717-40172G>T (n.1717-40172G>T)
c.856G>T (p.Glu286Ter)
c.406G>T (p.Glu136Ter)
8g.60822060_60822061delCA2580617163CHD7c.2872_2873del (p.Ser958PhefsTer5)
c.1717-40169_1717-40168del (n.1717-40169_1717-40168del)
c.859_860del (p.Ser287PhefsTer5)
c.409_410del (p.Ser137PhefsTer5)
 ClinVar
8g.60822058A>CCA371308240CHD7c.2870A>C (p.Glu957Ala)
c.1717-40171A>C (n.1717-40171A>C)
c.857A>C (p.Glu286Ala)
c.407A>C (p.Glu136Ala)
8g.60822058A>GCA371308243CHD7c.2870A>G (p.Glu957Gly)
c.1717-40171A>G (n.1717-40171A>G)
c.857A>G (p.Glu286Gly)
c.407A>G (p.Glu136Gly)
8g.60822058A>TCA371308245CHD7c.2870A>T (p.Glu957Val)
c.1717-40171A>T (n.1717-40171A>T)
c.857A>T (p.Glu286Val)
c.407A>T (p.Glu136Val)
8g.60822059G>ACA460845787CHD7c.2871G>A (p.Glu957=)
c.1717-40170G>A (n.1717-40170G>A)
c.858G>A (p.Glu286=)
c.408G>A (p.Glu136=)
8g.60822059G>CCA371308247CHD7c.2871G>C (p.Glu957Asp)
c.1717-40170G>C (n.1717-40170G>C)
c.858G>C (p.Glu286Asp)
c.408G>C (p.Glu136Asp)
8g.60822059G>TCA371308251CHD7c.2871G>T (p.Glu957Asp)
c.1717-40170G>T (n.1717-40170G>T)
c.858G>T (p.Glu286Asp)
c.408G>T (p.Glu136Asp)
 COSMIC
8g.60822060A>CCA371308255CHD7c.2872A>C (p.Ser958Arg)
c.1717-40169A>C (n.1717-40169A>C)
c.859A>C (p.Ser287Arg)
c.409A>C (p.Ser137Arg)
 ClinVar
8g.60822060A>GCA371308257CHD7c.2872A>G (p.Ser958Gly)
c.1717-40169A>G (n.1717-40169A>G)
c.859A>G (p.Ser287Gly)
c.409A>G (p.Ser137Gly)
8g.60822060A>TCA371308259CHD7c.2872A>T (p.Ser958Cys)
c.1717-40169A>T (n.1717-40169A>T)
c.859A>T (p.Ser287Cys)
c.409A>T (p.Ser137Cys)
8g.60822061G>ACA371308261CHD7c.2873G>A (p.Ser958Asn)
c.1717-40168G>A (n.1717-40168G>A)
c.860G>A (p.Ser287Asn)
c.410G>A (p.Ser137Asn)
 dbSNP gnomAD v2 gnomAD v4
8g.60822061G>CCA371308264CHD7c.2873G>C (p.Ser958Thr)
c.1717-40168G>C (n.1717-40168G>C)
c.860G>C (p.Ser287Thr)
c.410G>C (p.Ser137Thr)
8g.60822061G=CA1788142949CHD7c.2873G= (p.Ser958=)
c.1717-40168G= (n.1717-40168G=)
c.860G= (p.Ser287=)
c.410G= (p.Ser137=)
8g.60822061G>TCA371308266CHD7c.2873G>T (p.Ser958Ile)
c.1717-40168G>T (n.1717-40168G>T)
c.860G>T (p.Ser287Ile)
c.410G>T (p.Ser137Ile)
8g.60822062T>ACA4759854CHD7c.2874T>A (p.Ser958Arg)
c.1717-40167T>A (n.1717-40167T>A)
c.861T>A (p.Ser287Arg)
c.411T>A (p.Ser137Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.60822062T>CCA460845788CHD7c.2874T>C (p.Ser958=)
c.1717-40167T>C (n.1717-40167T>C)
c.861T>C (p.Ser287=)
c.411T>C (p.Ser137=)
8g.60822062T>GCA371308268CHD7c.2874T>G (p.Ser958Arg)
c.1717-40167T>G (n.1717-40167T>G)
c.861T>G (p.Ser287Arg)
c.411T>G (p.Ser137Arg)
8g.60822062T=CA1788142954CHD7c.2874T= (p.Ser958=)
c.1717-40167T= (n.1717-40167T=)
c.861T= (p.Ser287=)
c.411T= (p.Ser137=)
8g.60822063T>ACA371308273CHD7c.2875T>A (p.Ser959Thr)
c.1717-40166T>A (n.1717-40166T>A)
c.862T>A (p.Ser288Thr)
c.412T>A (p.Ser138Thr)
8g.60822063T>CCA371308277CHD7c.2875T>C (p.Ser959Pro)
c.1717-40166T>C (n.1717-40166T>C)
c.862T>C (p.Ser288Pro)
c.412T>C (p.Ser138Pro)
8g.60822063T>GCA371308276CHD7c.2875T>G (p.Ser959Ala)
c.1717-40166T>G (n.1717-40166T>G)
c.862T>G (p.Ser288Ala)
c.412T>G (p.Ser138Ala)
8g.60822064C>ACA371308280CHD7c.2876C>A (p.Ser959Tyr)
c.1717-40165C>A (n.1717-40165C>A)
c.863C>A (p.Ser288Tyr)
c.413C>A (p.Ser138Tyr)
8g.60822064C>GCA371308283CHD7c.2876C>G (p.Ser959Cys)
c.1717-40165C>G (n.1717-40165C>G)
c.863C>G (p.Ser288Cys)
c.413C>G (p.Ser138Cys)
8g.60822064C>TCA371308286CHD7c.2876C>T (p.Ser959Phe)
c.1717-40165C>T (n.1717-40165C>T)
c.863C>T (p.Ser288Phe)
c.413C>T (p.Ser138Phe)
8g.60822065C>ACA460845789CHD7c.2877C>A (p.Ser959=)
c.1717-40164C>A (n.1717-40164C>A)
c.864C>A (p.Ser288=)
c.414C>A (p.Ser138=)
8g.60822065C>GCA460845790CHD7c.2877C>G (p.Ser959=)
c.1717-40164C>G (n.1717-40164C>G)
c.864C>G (p.Ser288=)
c.414C>G (p.Ser138=)
8g.60822065C>TCA460845791CHD7c.2877C>T (p.Ser959=)
c.1717-40164C>T (n.1717-40164C>T)
c.864C>T (p.Ser288=)
c.414C>T (p.Ser138=)
8g.60822066A>CCA460845792CHD7c.2878A>C (p.Arg960=)
c.1717-40163A>C (n.1717-40163A>C)
c.865A>C (p.Arg289=)
c.415A>C (p.Arg139=)
8g.60822066A>GCA371308289CHD7c.2878A>G (p.Arg960Gly)
c.1717-40163A>G (n.1717-40163A>G)
c.865A>G (p.Arg289Gly)
c.415A>G (p.Arg139Gly)
8g.60822066A>TCA371308291CHD7c.2878A>T (p.Arg960Trp)
c.1717-40163A>T (n.1717-40163A>T)
c.865A>T (p.Arg289Trp)
c.415A>T (p.Arg139Trp)
8g.60822067G>ACA371308293CHD7c.2879G>A (p.Arg960Lys)
c.1717-40162G>A (n.1717-40162G>A)
c.866G>A (p.Arg289Lys)
c.416G>A (p.Arg139Lys)
 dbSNP gnomAD v2 gnomAD v4
8g.60822067G>CCA371308295CHD7c.2879G>C (p.Arg960Thr)
c.1717-40162G>C (n.1717-40162G>C)
c.866G>C (p.Arg289Thr)
c.416G>C (p.Arg139Thr)
8g.60822067G=CA1788142957CHD7c.2879G= (p.Arg960=)
c.1717-40162G= (n.1717-40162G=)
c.866G= (p.Arg289=)
c.416G= (p.Arg139=)
8g.60822067G>TCA371308297CHD7c.2879G>T (p.Arg960Met)
c.1717-40162G>T (n.1717-40162G>T)
c.866G>T (p.Arg289Met)
c.416G>T (p.Arg139Met)
8g.60822069delCA2573053039CHD7c.2881del (p.Glu961SerfsTer16)
c.1717-40160del (n.1717-40160del)
c.868del (p.Glu290SerfsTer16)
c.418del (p.Glu140SerfsTer16)
 ClinVar dbSNP
8g.60822068G>ACA460845793CHD7c.2880G>A (p.Arg960=)
c.1717-40161G>A (n.1717-40161G>A)
c.867G>A (p.Arg289=)
c.417G>A (p.Arg139=)
 ClinVar gnomAD v4
8g.60822068G>CCA371308299CHD7c.2880G>C (p.Arg960Ser)
c.1717-40161G>C (n.1717-40161G>C)
c.867G>C (p.Arg289Ser)
c.417G>C (p.Arg139Ser)
8g.60822068G=CA1788143888CHD7c.2880G= (p.Arg960=)
c.1717-40161G= (n.1717-40161G=)
c.867G= (p.Arg289=)
c.417G= (p.Arg139=)
8g.60822068G>TCA371308302CHD7c.2880G>T (p.Arg960Ser)
c.1717-40161G>T (n.1717-40161G>T)
c.867G>T (p.Arg289Ser)
c.417G>T (p.Arg139Ser)
 ClinVar dbSNP
8g.60822068_60822069delinsAACA645557422CHD7c.2880_2881delinsAA (p.Glu961Lys)
c.1717-40161_1717-40160delinsAA (n.1717-40161_1717-40160delinsAA)
c.867_868delinsAA (p.Glu290Lys)
c.417_418delinsAA (p.Glu140Lys)
 COSMIC
8g.60822069G>ACA371308304CHD7c.2881G>A (p.Glu961Lys)
c.1717-40160G>A (n.1717-40160G>A)
c.868G>A (p.Glu290Lys)
c.418G>A (p.Glu140Lys)
 gnomAD v4
8g.60822069G>CCA371308307CHD7c.2881G>C (p.Glu961Gln)
c.1717-40160G>C (n.1717-40160G>C)
c.868G>C (p.Glu290Gln)
c.418G>C (p.Glu140Gln)
8g.60822069G>TCA371308310CHD7c.2881G>T (p.Glu961Ter)
c.1717-40160G>T (n.1717-40160G>T)
c.868G>T (p.Glu290Ter)
c.418G>T (p.Glu140Ter)
8g.60822070A>CCA371308312CHD7c.2882A>C (p.Glu961Ala)
c.1717-40159A>C (n.1717-40159A>C)
c.869A>C (p.Glu290Ala)
c.419A>C (p.Glu140Ala)
8g.60822070A>GCA371308317CHD7c.2882A>G (p.Glu961Gly)
c.1717-40159A>G (n.1717-40159A>G)
c.869A>G (p.Glu290Gly)
c.419A>G (p.Glu140Gly)
8g.60822070A>TCA371308314CHD7c.2882A>T (p.Glu961Val)
c.1717-40159A>T (n.1717-40159A>T)
c.869A>T (p.Glu290Val)
c.419A>T (p.Glu140Val)
8g.60822071G>ACA460845794CHD7c.2883G>A (p.Glu961=)
c.1717-40158G>A (n.1717-40158G>A)
c.870G>A (p.Glu290=)
c.420G>A (p.Glu140=)
8g.60822071G>CCA371308320CHD7c.2883G>C (p.Glu961Asp)
c.1717-40158G>C (n.1717-40158G>C)
c.870G>C (p.Glu290Asp)
c.420G>C (p.Glu140Asp)
8g.60822071G>TCA371308323CHD7c.2883G>T (p.Glu961Asp)
c.1717-40158G>T (n.1717-40158G>T)
c.870G>T (p.Glu290Asp)
c.420G>T (p.Glu140Asp)
8g.60822072T>ACA371308326CHD7c.2884T>A (p.Tyr962Asn)
c.1717-40157T>A (n.1717-40157T>A)
c.871T>A (p.Tyr291Asn)
c.421T>A (p.Tyr141Asn)
8g.60822072T>CCA371308329CHD7c.2884T>C (p.Tyr962His)
c.1717-40157T>C (n.1717-40157T>C)
c.871T>C (p.Tyr291His)
c.421T>C (p.Tyr141His)
8g.60822072T>GCA371308332CHD7c.2884T>G (p.Tyr962Asp)
c.1717-40157T>G (n.1717-40157T>G)
c.871T>G (p.Tyr291Asp)
c.421T>G (p.Tyr141Asp)
8g.60822073A=CA1788143893CHD7c.2885A= (p.Tyr962=)
c.1717-40156A= (n.1717-40156A=)
c.872A= (p.Tyr291=)
c.422A= (p.Tyr141=)
8g.60822073A>CCA371308335CHD7c.2885A>C (p.Tyr962Ser)
c.1717-40156A>C (n.1717-40156A>C)
c.872A>C (p.Tyr291Ser)
c.422A>C (p.Tyr141Ser)
8g.60822073A>GCA371308337CHD7c.2885A>G (p.Tyr962Cys)
c.1717-40156A>G (n.1717-40156A>G)
c.872A>G (p.Tyr291Cys)
c.422A>G (p.Tyr141Cys)
 dbSNP
8g.60822073A>TCA371308339CHD7c.2885A>T (p.Tyr962Phe)
c.1717-40156A>T (n.1717-40156A>T)
c.872A>T (p.Tyr291Phe)
c.422A>T (p.Tyr141Phe)
8g.60822074T>ACA371308342CHD7c.2886T>A (p.Tyr962Ter)
c.1717-40155T>A (n.1717-40155T>A)
c.873T>A (p.Tyr291Ter)
c.423T>A (p.Tyr141Ter)
8g.60822074T>CCA460845795CHD7c.2886T>C (p.Tyr962=)
c.1717-40155T>C (n.1717-40155T>C)
c.873T>C (p.Tyr291=)
c.423T>C (p.Tyr141=)
8g.60822074T>GCA371308345CHD7c.2886T>G (p.Tyr962Ter)
c.1717-40155T>G (n.1717-40155T>G)
c.873T>G (p.Tyr291Ter)
c.423T>G (p.Tyr141Ter)
8g.60822075A=CA1788143896CHD7c.2887A= (p.Lys963=)
c.1717-40154A= (n.1717-40154A=)
c.874A= (p.Lys292=)
c.424A= (p.Lys142=)
8g.60822075A>CCA371308352CHD7c.2887A>C (p.Lys963Gln)
c.1717-40154A>C (n.1717-40154A>C)
c.874A>C (p.Lys292Gln)
c.424A>C (p.Lys142Gln)
8g.60822075A>GCA371308351CHD7c.2887A>G (p.Lys963Glu)
c.1717-40154A>G (n.1717-40154A>G)
c.874A>G (p.Lys292Glu)
c.424A>G (p.Lys142Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60822075A>TCA371308347CHD7c.2887A>T (p.Lys963Ter)
c.1717-40154A>T (n.1717-40154A>T)
c.874A>T (p.Lys292Ter)
c.424A>T (p.Lys142Ter)
8g.60822079dupCA2739290092CHD7c.2891dup (p.Asn964LysfsTer3)
c.1717-40150dup (n.1717-40150dup)
c.878dup (p.Asn293LysfsTer3)
c.428dup (p.Asn143LysfsTer3)
8g.60822076A>CCA371308356CHD7c.2888A>C (p.Lys963Thr)
c.1717-40153A>C (n.1717-40153A>C)
c.875A>C (p.Lys292Thr)
c.425A>C (p.Lys142Thr)
8g.60822076A>GCA371308358CHD7c.2888A>G (p.Lys963Arg)
c.1717-40153A>G (n.1717-40153A>G)
c.875A>G (p.Lys292Arg)
c.425A>G (p.Lys142Arg)
8g.60822076A>TCA371308361CHD7c.2888A>T (p.Lys963Ile)
c.1717-40153A>T (n.1717-40153A>T)
c.875A>T (p.Lys292Ile)
c.425A>T (p.Lys142Ile)
8g.60822077A=CA1788143900CHD7c.2889A= (p.Lys963=)
c.1717-40152A= (n.1717-40152A=)
c.876A= (p.Lys292=)
c.426A= (p.Lys142=)
8g.60822077A>CCA371308364CHD7c.2889A>C (p.Lys963Asn)
c.1717-40152A>C (n.1717-40152A>C)
c.876A>C (p.Lys292Asn)
c.426A>C (p.Lys142Asn)
8g.60822077A>GCA460845796CHD7c.2889A>G (p.Lys963=)
c.1717-40152A>G (n.1717-40152A>G)
c.876A>G (p.Lys292=)
c.426A>G (p.Lys142=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60822077A>TCA371308366CHD7c.2889A>T (p.Lys963Asn)
c.1717-40152A>T (n.1717-40152A>T)
c.876A>T (p.Lys292Asn)
c.426A>T (p.Lys142Asn)
8g.60822078A>CCA371308370CHD7c.2890A>C (p.Asn964His)
c.1717-40151A>C (n.1717-40151A>C)
c.877A>C (p.Asn293His)
c.427A>C (p.Asn143His)
8g.60822078A>GCA371308373CHD7c.2890A>G (p.Asn964Asp)
c.1717-40151A>G (n.1717-40151A>G)
c.877A>G (p.Asn293Asp)
c.427A>G (p.Asn143Asp)
8g.60822078A>TCA371308375CHD7c.2890A>T (p.Asn964Tyr)
c.1717-40151A>T (n.1717-40151A>T)
c.877A>T (p.Asn293Tyr)
c.427A>T (p.Asn143Tyr)
8g.60822079A>CCA371308378CHD7c.2891A>C (p.Asn964Thr)
c.1717-40150A>C (n.1717-40150A>C)
c.878A>C (p.Asn293Thr)
c.428A>C (p.Asn143Thr)
8g.60822079A>GCA371308381CHD7c.2891A>G (p.Asn964Ser)
c.1717-40150A>G (n.1717-40150A>G)
c.878A>G (p.Asn293Ser)
c.428A>G (p.Asn143Ser)
8g.60822079A>TCA371308383CHD7c.2891A>T (p.Asn964Ile)
c.1717-40150A>T (n.1717-40150A>T)
c.878A>T (p.Asn293Ile)
c.428A>T (p.Asn143Ile)
8g.60822080C>ACA371308386CHD7c.2892C>A (p.Asn964Lys)
c.1717-40149C>A (n.1717-40149C>A)
c.879C>A (p.Asn293Lys)
c.429C>A (p.Asn143Lys)
8g.60822080C>GCA371308389CHD7c.2892C>G (p.Asn964Lys)
c.1717-40149C>G (n.1717-40149C>G)
c.879C>G (p.Asn293Lys)
c.429C>G (p.Asn143Lys)
8g.60822080C>TCA460845797CHD7c.2892C>T (p.Asn964=)
c.1717-40149C>T (n.1717-40149C>T)
c.879C>T (p.Asn293=)
c.429C>T (p.Asn143=)
8g.60822081A>CCA371308396CHD7c.2893A>C (p.Asn965His)
c.1717-40148A>C (n.1717-40148A>C)
c.880A>C (p.Asn294His)
c.430A>C (p.Asn144His)
8g.60822081A>GCA371308393CHD7c.2893A>G (p.Asn965Asp)
c.1717-40148A>G (n.1717-40148A>G)
c.880A>G (p.Asn294Asp)
c.430A>G (p.Asn144Asp)
 gnomAD v4
8g.60822081A>TCA371308394CHD7c.2893A>T (p.Asn965Tyr)
c.1717-40148A>T (n.1717-40148A>T)
c.880A>T (p.Asn294Tyr)
c.430A>T (p.Asn144Tyr)
8g.60822082A>CCA371308398CHD7c.2894A>C (p.Asn965Thr)
c.1717-40147A>C (n.1717-40147A>C)
c.881A>C (p.Asn294Thr)
c.431A>C (p.Asn144Thr)
8g.60822082A>GCA371308399CHD7c.2894A>G (p.Asn965Ser)
c.1717-40147A>G (n.1717-40147A>G)
c.881A>G (p.Asn294Ser)
c.431A>G (p.Asn144Ser)
 gnomAD v4
8g.60822082A>TCA371308401CHD7c.2894A>T (p.Asn965Ile)
c.1717-40147A>T (n.1717-40147A>T)
c.881A>T (p.Asn294Ile)
c.431A>T (p.Asn144Ile)
8g.60822083T>ACA371308404CHD7c.2895T>A (p.Asn965Lys)
c.1717-40146T>A (n.1717-40146T>A)
c.882T>A (p.Asn294Lys)
c.432T>A (p.Asn144Lys)
8g.60822083T>CCA460845798CHD7c.2895T>C (p.Asn965=)
c.1717-40146T>C (n.1717-40146T>C)
c.882T>C (p.Asn294=)
c.432T>C (p.Asn144=)
 gnomAD v4
8g.60822083T>GCA371308407CHD7c.2895T>G (p.Asn965Lys)
c.1717-40146T>G (n.1717-40146T>G)
c.882T>G (p.Asn294Lys)
c.432T>G (p.Asn144Lys)
8g.60822084A>CCA371308410CHD7c.2896A>C (p.Asn966His)
c.1717-40145A>C (n.1717-40145A>C)
c.883A>C (p.Asn295His)
c.433A>C (p.Asn145His)
8g.60822084A>GCA371308412CHD7c.2896A>G (p.Asn966Asp)
c.1717-40145A>G (n.1717-40145A>G)
c.883A>G (p.Asn295Asp)
c.433A>G (p.Asn145Asp)
8g.60822084A>TCA371308415CHD7c.2896A>T (p.Asn966Tyr)
c.1717-40145A>T (n.1717-40145A>T)
c.883A>T (p.Asn295Tyr)
c.433A>T (p.Asn145Tyr)
8g.60822085A=CA1788143903CHD7c.2897A= (p.Asn966=)
c.1717-40144A= (n.1717-40144A=)
c.884A= (p.Asn295=)
c.434A= (p.Asn145=)
8g.60822085A>CCA371308419CHD7c.2897A>C (p.Asn966Thr)
c.1717-40144A>C (n.1717-40144A>C)
c.884A>C (p.Asn295Thr)
c.434A>C (p.Asn145Thr)
8g.60822085A>GCA4759855CHD7c.2897A>G (p.Asn966Ser)
c.1717-40144A>G (n.1717-40144A>G)
c.884A>G (p.Asn295Ser)
c.434A>G (p.Asn145Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.60822085A>TCA371308422CHD7c.2897A>T (p.Asn966Ile)
c.1717-40144A>T (n.1717-40144A>T)
c.884A>T (p.Asn295Ile)
c.434A>T (p.Asn145Ile)
8g.60822086C>ACA371308424CHD7c.2898C>A (p.Asn966Lys)
c.1717-40143C>A (n.1717-40143C>A)
c.885C>A (p.Asn295Lys)
c.435C>A (p.Asn145Lys)
8g.60822086C>GCA371308427CHD7c.2898C>G (p.Asn966Lys)
c.1717-40143C>G (n.1717-40143C>G)
c.885C>G (p.Asn295Lys)
c.435C>G (p.Asn145Lys)
8g.60822086C>TCA460845799CHD7c.2898C>T (p.Asn966=)
c.1717-40143C>T (n.1717-40143C>T)
c.885C>T (p.Asn295=)
c.435C>T (p.Asn145=)
 ClinVar gnomAD v4
8g.60822087A>CCA371308434CHD7c.2899A>C (p.Lys967Gln)
c.1717-40142A>C (n.1717-40142A>C)
c.886A>C (p.Lys296Gln)
c.436A>C (p.Lys146Gln)
8g.60822087A>GCA371308437CHD7c.2899A>G (p.Lys967Glu)
c.1717-40142A>G (n.1717-40142A>G)
c.886A>G (p.Lys296Glu)
c.436A>G (p.Lys146Glu)
8g.60822087A>TCA371308431CHD7c.2899A>T (p.Lys967Ter)
c.1717-40142A>T (n.1717-40142A>T)
c.886A>T (p.Lys296Ter)
c.436A>T (p.Lys146Ter)
8g.60822092_60822120delCA645557423CHD7c.2904_2932del (p.Arg969AlafsTer16)
c.1717-40137_1717-40109del (n.1717-40137_1717-40109del)
c.891_919del (p.Arg298AlafsTer16)
c.441_469del (p.Arg148AlafsTer16)
 COSMIC
8g.60822088A=CA1788143906CHD7c.2900A= (p.Lys967=)
c.1717-40141A= (n.1717-40141A=)
c.887A= (p.Lys296=)
c.437A= (p.Lys146=)
8g.60822088A>CCA371308443CHD7c.2900A>C (p.Lys967Thr)
c.1717-40141A>C (n.1717-40141A>C)
c.887A>C (p.Lys296Thr)
c.437A>C (p.Lys146Thr)
8g.60822088A>GCA371308441CHD7c.2900A>G (p.Lys967Arg)
c.1717-40141A>G (n.1717-40141A>G)
c.887A>G (p.Lys296Arg)
c.437A>G (p.Lys146Arg)
8g.60822088A>TCA371308446CHD7c.2900A>T (p.Lys967Ile)
c.1717-40141A>T (n.1717-40141A>T)
c.887A>T (p.Lys296Ile)
c.437A>T (p.Lys146Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.60822089A>CCA371308448CHD7c.2901A>C (p.Lys967Asn)
c.1717-40140A>C (n.1717-40140A>C)
c.888A>C (p.Lys296Asn)
c.438A>C (p.Lys146Asn)
8g.60822089A>GCA460845800CHD7c.2901A>G (p.Lys967=)
c.1717-40140A>G (n.1717-40140A>G)
c.888A>G (p.Lys296=)
c.438A>G (p.Lys146=)
8g.60822089A>TCA371308449CHD7c.2901A>T (p.Lys967Asn)
c.1717-40140A>T (n.1717-40140A>T)
c.888A>T (p.Lys296Asn)
c.438A>T (p.Lys146Asn)
8g.60822090C>ACA371308452CHD7c.2902C>A (p.Leu968Ile)
c.1717-40139C>A (n.1717-40139C>A)
c.889C>A (p.Leu297Ile)
c.439C>A (p.Leu147Ile)
8g.60822090C>GCA371308458CHD7c.2902C>G (p.Leu968Val)
c.1717-40139C>G (n.1717-40139C>G)
c.889C>G (p.Leu297Val)
c.439C>G (p.Leu147Val)
8g.60822090C>TCA371308455CHD7c.2902C>T (p.Leu968Phe)
c.1717-40139C>T (n.1717-40139C>T)
c.889C>T (p.Leu297Phe)
c.439C>T (p.Leu147Phe)
 gnomAD v4
8g.60822091T>ACA371308462CHD7c.2903T>A (p.Leu968His)
c.1717-40138T>A (n.1717-40138T>A)
c.890T>A (p.Leu297His)
c.440T>A (p.Leu147His)
8g.60822091T>CCA371308468CHD7c.2903T>C (p.Leu968Pro)
c.1717-40138T>C (n.1717-40138T>C)
c.890T>C (p.Leu297Pro)
c.440T>C (p.Leu147Pro)
8g.60822091T>GCA371308464CHD7c.2903T>G (p.Leu968Arg)
c.1717-40138T>G (n.1717-40138T>G)
c.890T>G (p.Leu297Arg)
c.440T>G (p.Leu147Arg)
8g.60822092C>ACA460845801CHD7c.2904C>A (p.Leu968=)
c.1717-40137C>A (n.1717-40137C>A)
c.891C>A (p.Leu297=)
c.441C>A (p.Leu147=)
8g.60822092C>GCA460845802CHD7c.2904C>G (p.Leu968=)
c.1717-40137C>G (n.1717-40137C>G)
c.891C>G (p.Leu297=)
c.441C>G (p.Leu147=)
8g.60822092C>TCA460845803CHD7c.2904C>T (p.Leu968=)
c.1717-40137C>T (n.1717-40137C>T)
c.891C>T (p.Leu297=)
c.441C>T (p.Leu147=)
8g.60822092_60822094delinsCAGCA1788143911CHD7c.2904_2906delinsCAG (p.Leu968=)
c.1717-40137_1717-40135delinsCAG (n.1717-40137_1717-40135delinsCAG)
c.891_893delinsCAG (p.Leu297=)
c.441_443delinsCAG (p.Leu147=)
8g.60822092_60822108delinsCAGGGAATACCAGTTGGCA1788143913CHD7c.2904_2920delinsCAGGGAATACCAGTTGG (p.Leu968=)
c.1717-40137_1717-40121delinsCAGGGAATACCAGTTGG (n.1717-40137_1717-40121delinsCAGGGAATACCAGTTGG)
c.891_907delinsCAGGGAATACCAGTTGG (p.Leu297=)
c.441_457delinsCAGGGAATACCAGTTGG (p.Leu147=)
8g.60822093A=CA1788143925CHD7c.2905A= (p.Arg969=)
c.1717-40136A= (n.1717-40136A=)
c.892A= (p.Arg298=)
c.442A= (p.Arg148=)
8g.60822093A>CCA460845804CHD7c.2905A>C (p.Arg969=)
c.1717-40136A>C (n.1717-40136A>C)
c.892A>C (p.Arg298=)
c.442A>C (p.Arg148=)
 gnomAD v4
8g.60822093A>GCA371308470CHD7c.2905A>G (p.Arg969Gly)
c.1717-40136A>G (n.1717-40136A>G)
c.892A>G (p.Arg298Gly)
c.442A>G (p.Arg148Gly)
 ClinVar dbSNP
8g.60822093A>TCA371308472CHD7c.2905A>T (p.Arg969Trp)
c.1717-40136A>T (n.1717-40136A>T)
c.892A>T (p.Arg298Trp)
c.442A>T (p.Arg148Trp)
8g.60822093_60822094delCA271296CHD7c.2905_2906del (p.Arg969GlyfsTer25)
c.1717-40136_1717-40135del (n.1717-40136_1717-40135del)
c.892_893del (p.Arg298GlyfsTer25)
c.442_443del (p.Arg148GlyfsTer25)
 ClinVar dbSNP
8g.60822098_60822113delCA658821725CHD7c.2910_2925del (p.Tyr971Ter)
c.1717-40131_1717-40116del (n.1717-40131_1717-40116del)
c.897_912del (p.Tyr300Ter)
c.447_462del (p.Tyr150Ter)
 ClinVar dbSNP

Number of alleles fetched