Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.6581028_6581033delinsATGTGGCA2014144917CHD4c.4876+5_4876+10delinsCCACAT (n.4876+5_4876+10delinsCCACAT)
c.4909+11_4909+16delinsCCACAT (n.4909+11_4909+16delinsCCACAT)
c.4984+11_4984+16delinsCCACAT (n.4984+11_4984+16delinsCCACAT)
c.4835+11_4835+16delinsCCACAT
c.1160+11_1160+16delinsCCACAT
c.*573+11_*573+16delinsCCACAT (n.*573+11_*573+16delinsCCACAT)
c.4933+11_4933+16delinsCCACAT (n.4933+11_4933+16delinsCCACAT)
c.4882+11_4882+16delinsCCACAT (n.4882+11_4882+16delinsCCACAT)
c.1450+5_1450+10delinsCCACAT (n.1450+5_1450+10delinsCCACAT)
c.3623+11_3623+16delinsCCACAT
c.842+11_842+16delinsCCACAT
c.4888+11_4888+16delinsCCACAT (n.4888+11_4888+16delinsCCACAT)
c.4960+11_4960+16delinsCCACAT (n.4960+11_4960+16delinsCCACAT)
c.2767+11_2767+16delinsCCACAT (n.2767+11_2767+16delinsCCACAT)
n.2877_2882delinsCCACAT
c.183+11_183+16delinsCCACAT
c.*1669+11_*1669+16delinsCCACAT (n.*1669+11_*1669+16delinsCCACAT)
c.4915+5_4915+10delinsCCACAT (n.4915+5_4915+10delinsCCACAT)
c.4993+11_4993+16delinsCCACAT (n.4993+11_4993+16delinsCCACAT)
c.4870+11_4870+16delinsCCACAT (n.4870+11_4870+16delinsCCACAT)
c.9+6351_9+6356delinsCCACAT (n.9+6351_9+6356delinsCCACAT)
n.1181+11_1181+16delinsCCACAT
n.4489+11_4489+16delinsCCACAT
c.986+5_986+10delinsCCACAT
c.3834+11_3834+16delinsCCACAT
c.4849+11_4849+16delinsCCACAT (n.4849+11_4849+16delinsCCACAT)
c.2958+11_2958+16delinsCCACAT
n.1779+11_1779+16delinsCCACAT
n.133+5_133+10delinsCCACAT
c.4912+5_4912+10delinsCCACAT (n.4912+5_4912+10delinsCCACAT)
c.4894+5_4894+10delinsCCACAT (n.4894+5_4894+10delinsCCACAT)
c.4906+11_4906+16delinsCCACAT (n.4906+11_4906+16delinsCCACAT)
c.4855+5_4855+10delinsCCACAT (n.4855+5_4855+10delinsCCACAT)
c.4972+11_4972+16delinsCCACAT (n.4972+11_4972+16delinsCCACAT)
c.4954+11_4954+16delinsCCACAT (n.4954+11_4954+16delinsCCACAT)
12g.6581029_6581033delCA603484791CHD4c.4876+5_4876+9del (n.4876+5_4876+9del)
c.4909+11_4909+15del (n.4909+11_4909+15del)
c.4984+11_4984+15del (n.4984+11_4984+15del)
c.4835+11_4835+15del
c.1160+11_1160+15del
c.*573+11_*573+15del (n.*573+11_*573+15del)
c.4933+11_4933+15del (n.4933+11_4933+15del)
c.4882+11_4882+15del (n.4882+11_4882+15del)
c.1450+5_1450+9del (n.1450+5_1450+9del)
c.3623+11_3623+15del
c.842+11_842+15del
c.4888+11_4888+15del (n.4888+11_4888+15del)
c.4960+11_4960+15del (n.4960+11_4960+15del)
c.2767+11_2767+15del (n.2767+11_2767+15del)
n.2877_2881del
c.183+11_183+15del
c.*1669+11_*1669+15del (n.*1669+11_*1669+15del)
c.4915+5_4915+9del (n.4915+5_4915+9del)
c.4993+11_4993+15del (n.4993+11_4993+15del)
c.4870+11_4870+15del (n.4870+11_4870+15del)
c.9+6351_9+6355del (n.9+6351_9+6355del)
n.1181+11_1181+15del
n.4489+11_4489+15del
c.986+5_986+9del
c.3834+11_3834+15del
c.4849+11_4849+15del (n.4849+11_4849+15del)
c.2958+11_2958+15del
n.1779+11_1779+15del
n.133+5_133+9del
c.4912+5_4912+9del (n.4912+5_4912+9del)
c.4894+5_4894+9del (n.4894+5_4894+9del)
c.4906+11_4906+15del (n.4906+11_4906+15del)
c.4855+5_4855+9del (n.4855+5_4855+9del)
c.4972+11_4972+15del (n.4972+11_4972+15del)
c.4954+11_4954+15del (n.4954+11_4954+15del)
 dbSNP gnomAD v2 gnomAD v4
12g.6581031T>GCA6411400CHD4c.4876+7A>C (n.4876+7A>C)
c.4909+13A>C (n.4909+13A>C)
c.4984+13A>C (n.4984+13A>C)
c.4835+13A>C
c.1160+13A>C
c.*573+13A>C (n.*573+13A>C)
c.4933+13A>C (n.4933+13A>C)
c.4882+13A>C (n.4882+13A>C)
c.1450+7A>C (n.1450+7A>C)
c.3623+13A>C
c.842+13A>C
c.4888+13A>C (n.4888+13A>C)
c.4960+13A>C (n.4960+13A>C)
c.2767+13A>C (n.2767+13A>C)
n.2879A>C
c.183+13A>C
c.*1669+13A>C (n.*1669+13A>C)
c.4915+7A>C (n.4915+7A>C)
c.4993+13A>C (n.4993+13A>C)
c.4870+13A>C (n.4870+13A>C)
c.9+6353A>C (n.9+6353A>C)
n.1181+13A>C
n.4489+13A>C
c.986+7A>C
c.3834+13A>C
c.4849+13A>C (n.4849+13A>C)
c.2958+13A>C
n.1779+13A>C
n.133+7A>C
c.4912+7A>C (n.4912+7A>C)
c.4894+7A>C (n.4894+7A>C)
c.4906+13A>C (n.4906+13A>C)
c.4855+7A>C (n.4855+7A>C)
c.4972+13A>C (n.4972+13A>C)
c.4954+13A>C (n.4954+13A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6581031T=CA2014144920CHD4c.4876+7A= (n.4876+7A=)
c.4909+13A= (n.4909+13A=)
c.4984+13A= (n.4984+13A=)
c.4835+13A=
c.1160+13A=
c.*573+13A= (n.*573+13A=)
c.4933+13A= (n.4933+13A=)
c.4882+13A= (n.4882+13A=)
c.1450+7A= (n.1450+7A=)
c.3623+13A=
c.842+13A=
c.4888+13A= (n.4888+13A=)
c.4960+13A= (n.4960+13A=)
c.2767+13A= (n.2767+13A=)
n.2879A=
c.183+13A=
c.*1669+13A= (n.*1669+13A=)
c.4915+7A= (n.4915+7A=)
c.4993+13A= (n.4993+13A=)
c.4870+13A= (n.4870+13A=)
c.9+6353A= (n.9+6353A=)
n.1181+13A=
n.4489+13A=
c.986+7A=
c.3834+13A=
c.4849+13A= (n.4849+13A=)
c.2958+13A=
n.1779+13A=
n.133+7A=
c.4912+7A= (n.4912+7A=)
c.4894+7A= (n.4894+7A=)
c.4906+13A= (n.4906+13A=)
c.4855+7A= (n.4855+7A=)
c.4972+13A= (n.4972+13A=)
c.4954+13A= (n.4954+13A=)
12g.6581032G>TCA2617294689CHD4c.4876+6C>A (n.4876+6C>A)
c.4909+12C>A (n.4909+12C>A)
c.4984+12C>A (n.4984+12C>A)
c.4835+12C>A
c.1160+12C>A
c.*573+12C>A (n.*573+12C>A)
c.4933+12C>A (n.4933+12C>A)
c.4882+12C>A (n.4882+12C>A)
c.1450+6C>A (n.1450+6C>A)
c.3623+12C>A
c.842+12C>A
c.4888+12C>A (n.4888+12C>A)
c.4960+12C>A (n.4960+12C>A)
c.2767+12C>A (n.2767+12C>A)
n.2878C>A
c.183+12C>A
c.*1669+12C>A (n.*1669+12C>A)
c.4915+6C>A (n.4915+6C>A)
c.4993+12C>A (n.4993+12C>A)
c.4870+12C>A (n.4870+12C>A)
c.9+6352C>A (n.9+6352C>A)
n.1181+12C>A
n.4489+12C>A
c.986+6C>A
c.3834+12C>A
c.4849+12C>A (n.4849+12C>A)
c.2958+12C>A
n.1779+12C>A
n.133+6C>A
c.4912+6C>A (n.4912+6C>A)
c.4894+6C>A (n.4894+6C>A)
c.4906+12C>A (n.4906+12C>A)
c.4855+6C>A (n.4855+6C>A)
c.4972+12C>A (n.4972+12C>A)
c.4954+12C>A (n.4954+12C>A)
 gnomAD v4
12g.6581033G>CCA2617294690CHD4c.4876+5C>G (n.4876+5C>G)
c.4909+11C>G (n.4909+11C>G)
c.4984+11C>G (n.4984+11C>G)
c.4835+11C>G
c.1160+11C>G
c.*573+11C>G (n.*573+11C>G)
c.4933+11C>G (n.4933+11C>G)
c.4882+11C>G (n.4882+11C>G)
c.1450+5C>G (n.1450+5C>G)
c.3623+11C>G
c.842+11C>G
c.4888+11C>G (n.4888+11C>G)
c.4960+11C>G (n.4960+11C>G)
c.2767+11C>G (n.2767+11C>G)
n.2877C>G
c.183+11C>G
c.*1669+11C>G (n.*1669+11C>G)
c.4915+5C>G (n.4915+5C>G)
c.4993+11C>G (n.4993+11C>G)
c.4870+11C>G (n.4870+11C>G)
c.9+6351C>G (n.9+6351C>G)
n.1181+11C>G
n.4489+11C>G
c.986+5C>G
c.3834+11C>G
c.4849+11C>G (n.4849+11C>G)
c.2958+11C>G
n.1779+11C>G
n.133+5C>G
c.4912+5C>G (n.4912+5C>G)
c.4894+5C>G (n.4894+5C>G)
c.4906+11C>G (n.4906+11C>G)
c.4855+5C>G (n.4855+5C>G)
c.4972+11C>G (n.4972+11C>G)
c.4954+11C>G (n.4954+11C>G)
 dbSNP gnomAD v4
12g.6581033G>TCA2617294691CHD4c.4876+5C>A (n.4876+5C>A)
c.4909+11C>A (n.4909+11C>A)
c.4984+11C>A (n.4984+11C>A)
c.4835+11C>A
c.1160+11C>A
c.*573+11C>A (n.*573+11C>A)
c.4933+11C>A (n.4933+11C>A)
c.4882+11C>A (n.4882+11C>A)
c.1450+5C>A (n.1450+5C>A)
c.3623+11C>A
c.842+11C>A
c.4888+11C>A (n.4888+11C>A)
c.4960+11C>A (n.4960+11C>A)
c.2767+11C>A (n.2767+11C>A)
n.2877C>A
c.183+11C>A
c.*1669+11C>A (n.*1669+11C>A)
c.4915+5C>A (n.4915+5C>A)
c.4993+11C>A (n.4993+11C>A)
c.4870+11C>A (n.4870+11C>A)
c.9+6351C>A (n.9+6351C>A)
n.1181+11C>A
n.4489+11C>A
c.986+5C>A
c.3834+11C>A
c.4849+11C>A (n.4849+11C>A)
c.2958+11C>A
n.1779+11C>A
n.133+5C>A
c.4912+5C>A (n.4912+5C>A)
c.4894+5C>A (n.4894+5C>A)
c.4906+11C>A (n.4906+11C>A)
c.4855+5C>A (n.4855+5C>A)
c.4972+11C>A (n.4972+11C>A)
c.4954+11C>A (n.4954+11C>A)
 gnomAD v4
12g.6581034A>CCA2617294692CHD4c.4876+4T>G (n.4876+4T>G)
c.4909+10T>G (n.4909+10T>G)
c.4984+10T>G (n.4984+10T>G)
c.4835+10T>G
c.1160+10T>G
c.*573+10T>G (n.*573+10T>G)
c.4933+10T>G (n.4933+10T>G)
c.4882+10T>G (n.4882+10T>G)
c.1450+4T>G (n.1450+4T>G)
c.3623+10T>G
c.842+10T>G
c.4888+10T>G (n.4888+10T>G)
c.4960+10T>G (n.4960+10T>G)
c.2767+10T>G (n.2767+10T>G)
n.2876T>G
c.183+10T>G
c.*1669+10T>G (n.*1669+10T>G)
c.4915+4T>G (n.4915+4T>G)
c.4993+10T>G (n.4993+10T>G)
c.4870+10T>G (n.4870+10T>G)
c.9+6350T>G (n.9+6350T>G)
n.1181+10T>G
n.4489+10T>G
c.986+4T>G
c.3834+10T>G
c.4849+10T>G (n.4849+10T>G)
c.2958+10T>G
n.1779+10T>G
n.133+4T>G
c.4912+4T>G (n.4912+4T>G)
c.4894+4T>G (n.4894+4T>G)
c.4906+10T>G (n.4906+10T>G)
c.4855+4T>G (n.4855+4T>G)
c.4972+10T>G (n.4972+10T>G)
c.4954+10T>G (n.4954+10T>G)
 gnomAD v4
12g.6581035T>ACA2617294693CHD4c.4876+3A>T (n.4876+3A>T)
c.4909+9A>T (n.4909+9A>T)
c.4984+9A>T (n.4984+9A>T)
c.4835+9A>T
c.1160+9A>T
c.*573+9A>T (n.*573+9A>T)
c.4933+9A>T (n.4933+9A>T)
c.4882+9A>T (n.4882+9A>T)
c.1450+3A>T (n.1450+3A>T)
c.3623+9A>T
c.842+9A>T
c.4888+9A>T (n.4888+9A>T)
c.4960+9A>T (n.4960+9A>T)
c.2767+9A>T (n.2767+9A>T)
n.2875A>T
c.183+9A>T
c.*1669+9A>T (n.*1669+9A>T)
c.4915+3A>T (n.4915+3A>T)
c.4993+9A>T (n.4993+9A>T)
c.4870+9A>T (n.4870+9A>T)
c.9+6349A>T (n.9+6349A>T)
n.1181+9A>T
n.4489+9A>T
c.986+3A>T
c.3834+9A>T
c.4849+9A>T (n.4849+9A>T)
c.2958+9A>T
n.1779+9A>T
n.133+3A>T
c.4912+3A>T (n.4912+3A>T)
c.4894+3A>T (n.4894+3A>T)
c.4906+9A>T (n.4906+9A>T)
c.4855+3A>T (n.4855+3A>T)
c.4972+9A>T (n.4972+9A>T)
c.4954+9A>T (n.4954+9A>T)
 gnomAD v4
12g.6581035T>CCA603484793CHD4c.4876+3A>G (n.4876+3A>G)
c.4909+9A>G (n.4909+9A>G)
c.4984+9A>G (n.4984+9A>G)
c.4835+9A>G
c.1160+9A>G
c.*573+9A>G (n.*573+9A>G)
c.4933+9A>G (n.4933+9A>G)
c.4882+9A>G (n.4882+9A>G)
c.1450+3A>G (n.1450+3A>G)
c.3623+9A>G
c.842+9A>G
c.4888+9A>G (n.4888+9A>G)
c.4960+9A>G (n.4960+9A>G)
c.2767+9A>G (n.2767+9A>G)
n.2875A>G
c.183+9A>G
c.*1669+9A>G (n.*1669+9A>G)
c.4915+3A>G (n.4915+3A>G)
c.4993+9A>G (n.4993+9A>G)
c.4870+9A>G (n.4870+9A>G)
c.9+6349A>G (n.9+6349A>G)
n.1181+9A>G
n.4489+9A>G
c.986+3A>G
c.3834+9A>G
c.4849+9A>G (n.4849+9A>G)
c.2958+9A>G
n.1779+9A>G
n.133+3A>G
c.4912+3A>G (n.4912+3A>G)
c.4894+3A>G (n.4894+3A>G)
c.4906+9A>G (n.4906+9A>G)
c.4855+3A>G (n.4855+3A>G)
c.4972+9A>G (n.4972+9A>G)
c.4954+9A>G (n.4954+9A>G)
 dbSNP gnomAD v2
12g.6581035T=CA2014144921CHD4c.4876+3A= (n.4876+3A=)
c.4909+9A= (n.4909+9A=)
c.4984+9A= (n.4984+9A=)
c.4835+9A=
c.1160+9A=
c.*573+9A= (n.*573+9A=)
c.4933+9A= (n.4933+9A=)
c.4882+9A= (n.4882+9A=)
c.1450+3A= (n.1450+3A=)
c.3623+9A=
c.842+9A=
c.4888+9A= (n.4888+9A=)
c.4960+9A= (n.4960+9A=)
c.2767+9A= (n.2767+9A=)
n.2875A=
c.183+9A=
c.*1669+9A= (n.*1669+9A=)
c.4915+3A= (n.4915+3A=)
c.4993+9A= (n.4993+9A=)
c.4870+9A= (n.4870+9A=)
c.9+6349A= (n.9+6349A=)
n.1181+9A=
n.4489+9A=
c.986+3A=
c.3834+9A=
c.4849+9A= (n.4849+9A=)
c.2958+9A=
n.1779+9A=
n.133+3A=
c.4912+3A= (n.4912+3A=)
c.4894+3A= (n.4894+3A=)
c.4906+9A= (n.4906+9A=)
c.4855+3A= (n.4855+3A=)
c.4972+9A= (n.4972+9A=)
c.4954+9A= (n.4954+9A=)
12g.6581037C>ACA2617294694CHD4c.4876+1G>T (n.4876+1G>T)
c.4909+7G>T (n.4909+7G>T)
c.4984+7G>T (n.4984+7G>T)
c.4835+7G>T
c.1160+7G>T
c.*573+7G>T (n.*573+7G>T)
c.4933+7G>T (n.4933+7G>T)
c.4882+7G>T (n.4882+7G>T)
c.1450+1G>T (n.1450+1G>T)
c.3623+7G>T
c.842+7G>T
c.4888+7G>T (n.4888+7G>T)
c.4960+7G>T (n.4960+7G>T)
c.2767+7G>T (n.2767+7G>T)
n.2873G>T
c.183+7G>T
c.*1669+7G>T (n.*1669+7G>T)
c.4915+1G>T (n.4915+1G>T)
c.4993+7G>T (n.4993+7G>T)
c.4870+7G>T (n.4870+7G>T)
c.9+6347G>T (n.9+6347G>T)
n.1181+7G>T
n.4489+7G>T
c.986+1G>T
c.3834+7G>T
c.4849+7G>T (n.4849+7G>T)
c.2958+7G>T
n.1779+7G>T
n.133+1G>T
c.4912+1G>T (n.4912+1G>T)
c.4894+1G>T (n.4894+1G>T)
c.4906+7G>T (n.4906+7G>T)
c.4855+1G>T (n.4855+1G>T)
c.4972+7G>T (n.4972+7G>T)
c.4954+7G>T (n.4954+7G>T)
 gnomAD v4
12g.6581037C=CA2014144922CHD4c.4876+1G= (n.4876+1G=)
c.4909+7G= (n.4909+7G=)
c.4984+7G= (n.4984+7G=)
c.4835+7G=
c.1160+7G=
c.*573+7G= (n.*573+7G=)
c.4933+7G= (n.4933+7G=)
c.4882+7G= (n.4882+7G=)
c.1450+1G= (n.1450+1G=)
c.3623+7G=
c.842+7G=
c.4888+7G= (n.4888+7G=)
c.4960+7G= (n.4960+7G=)
c.2767+7G= (n.2767+7G=)
n.2873G=
c.183+7G=
c.*1669+7G= (n.*1669+7G=)
c.4915+1G= (n.4915+1G=)
c.4993+7G= (n.4993+7G=)
c.4870+7G= (n.4870+7G=)
c.9+6347G= (n.9+6347G=)
n.1181+7G=
n.4489+7G=
c.986+1G=
c.3834+7G=
c.4849+7G= (n.4849+7G=)
c.2958+7G=
n.1779+7G=
n.133+1G=
c.4912+1G= (n.4912+1G=)
c.4894+1G= (n.4894+1G=)
c.4906+7G= (n.4906+7G=)
c.4855+1G= (n.4855+1G=)
c.4972+7G= (n.4972+7G=)
c.4954+7G= (n.4954+7G=)
12g.6581037C>TCA603484794CHD4c.4876+1G>A (n.4876+1G>A)
c.4909+7G>A (n.4909+7G>A)
c.4984+7G>A (n.4984+7G>A)
c.4835+7G>A
c.1160+7G>A
c.*573+7G>A (n.*573+7G>A)
c.4933+7G>A (n.4933+7G>A)
c.4882+7G>A (n.4882+7G>A)
c.1450+1G>A (n.1450+1G>A)
c.3623+7G>A
c.842+7G>A
c.4888+7G>A (n.4888+7G>A)
c.4960+7G>A (n.4960+7G>A)
c.2767+7G>A (n.2767+7G>A)
n.2873G>A
c.183+7G>A
c.*1669+7G>A (n.*1669+7G>A)
c.4915+1G>A (n.4915+1G>A)
c.4993+7G>A (n.4993+7G>A)
c.4870+7G>A (n.4870+7G>A)
c.9+6347G>A (n.9+6347G>A)
n.1181+7G>A
n.4489+7G>A
c.986+1G>A
c.3834+7G>A
c.4849+7G>A (n.4849+7G>A)
c.2958+7G>A
n.1779+7G>A
n.133+1G>A
c.4912+1G>A (n.4912+1G>A)
c.4894+1G>A (n.4894+1G>A)
c.4906+7G>A (n.4906+7G>A)
c.4855+1G>A (n.4855+1G>A)
c.4972+7G>A (n.4972+7G>A)
c.4954+7G>A (n.4954+7G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.6581038C>ACA6411402CHD4c.4876G>T (p.Gly1626Cys)
c.4909+6G>T (n.4909+6G>T)
c.4984+6G>T (n.4984+6G>T)
c.4835+6G>T
c.1160+6G>T
c.*573+6G>T (n.*573+6G>T)
c.4933+6G>T (n.4933+6G>T)
c.4882+6G>T (n.4882+6G>T)
c.1450G>T (p.Gly484Cys)
c.3623+6G>T
c.842+6G>T
c.4888+6G>T (n.4888+6G>T)
c.4960+6G>T (n.4960+6G>T)
c.2767+6G>T (n.2767+6G>T)
n.2872G>T
c.183+6G>T
c.*1669+6G>T (n.*1669+6G>T)
c.4915G>T (p.Gly1639Cys)
c.4993+6G>T (n.4993+6G>T)
c.4870+6G>T (n.4870+6G>T)
c.9+6346G>T (n.9+6346G>T)
n.1181+6G>T
n.4489+6G>T
c.986G>T
c.3834+6G>T
c.4849+6G>T (n.4849+6G>T)
c.2958+6G>T
n.1779+6G>T
n.133G>T
c.4912G>T (p.Gly1638Cys)
c.4894G>T (p.Gly1632Cys)
c.4906+6G>T (n.4906+6G>T)
c.4855G>T (p.Gly1619Cys)
c.4972+6G>T (n.4972+6G>T)
c.4954+6G>T (n.4954+6G>T)
 dbSNP ExAC gnomAD v4
12g.6581038C=CA2014144923CHD4c.4876G= (p.Gly1626=)
c.4909+6G= (n.4909+6G=)
c.4984+6G= (n.4984+6G=)
c.4835+6G=
c.1160+6G=
c.*573+6G= (n.*573+6G=)
c.4933+6G= (n.4933+6G=)
c.4882+6G= (n.4882+6G=)
c.1450G= (p.Gly484=)
c.3623+6G=
c.842+6G=
c.4888+6G= (n.4888+6G=)
c.4960+6G= (n.4960+6G=)
c.2767+6G= (n.2767+6G=)
n.2872G=
c.183+6G=
c.*1669+6G= (n.*1669+6G=)
c.4915G= (p.Gly1639=)
c.4993+6G= (n.4993+6G=)
c.4870+6G= (n.4870+6G=)
c.9+6346G= (n.9+6346G=)
n.1181+6G=
n.4489+6G=
c.986G=
c.3834+6G=
c.4849+6G= (n.4849+6G=)
c.2958+6G=
n.1779+6G=
n.133G=
c.4912G= (p.Gly1638=)
c.4894G= (p.Gly1632=)
c.4906+6G= (n.4906+6G=)
c.4855G= (p.Gly1619=)
c.4972+6G= (n.4972+6G=)
c.4954+6G= (n.4954+6G=)
12g.6581038C>TCA6411401CHD4c.4876G>A (p.Gly1626Ser)
c.4909+6G>A (n.4909+6G>A)
c.4984+6G>A (n.4984+6G>A)
c.4835+6G>A
c.1160+6G>A
c.*573+6G>A (n.*573+6G>A)
c.4933+6G>A (n.4933+6G>A)
c.4882+6G>A (n.4882+6G>A)
c.1450G>A (p.Gly484Ser)
c.3623+6G>A
c.842+6G>A
c.4888+6G>A (n.4888+6G>A)
c.4960+6G>A (n.4960+6G>A)
c.2767+6G>A (n.2767+6G>A)
n.2872G>A
c.183+6G>A
c.*1669+6G>A (n.*1669+6G>A)
c.4915G>A (p.Gly1639Ser)
c.4993+6G>A (n.4993+6G>A)
c.4870+6G>A (n.4870+6G>A)
c.9+6346G>A (n.9+6346G>A)
n.1181+6G>A
n.4489+6G>A
c.986G>A
c.3834+6G>A
c.4849+6G>A (n.4849+6G>A)
c.2958+6G>A
n.1779+6G>A
n.133G>A
c.4912G>A (p.Gly1638Ser)
c.4894G>A (p.Gly1632Ser)
c.4906+6G>A (n.4906+6G>A)
c.4855G>A (p.Gly1619Ser)
c.4972+6G>A (n.4972+6G>A)
c.4954+6G>A (n.4954+6G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6581042A>CCA383569862CHD4c.4872T>G (p.Gly1624=)
c.4909+2T>G (n.4909+2T>G)
c.4984+2T>G (n.4984+2T>G)
c.4835+2T>G
c.1160+2T>G
c.*573+2T>G (n.*573+2T>G)
c.4933+2T>G (n.4933+2T>G)
c.4882+2T>G (n.4882+2T>G)
c.1446T>G (p.Gly482=)
c.3623+2T>G
c.842+2T>G
c.4888+2T>G (n.4888+2T>G)
c.4960+2T>G (n.4960+2T>G)
c.2767+2T>G (n.2767+2T>G)
n.2868T>G
c.183+2T>G
c.*1669+2T>G (n.*1669+2T>G)
c.4911T>G (p.Gly1637=)
c.4993+2T>G (n.4993+2T>G)
c.4870+2T>G (n.4870+2T>G)
c.9+6342T>G (n.9+6342T>G)
n.1181+2T>G
n.4489+2T>G
c.982T>G
c.3834+2T>G
c.4849+2T>G (n.4849+2T>G)
c.2958+2T>G
n.1779+2T>G
n.129T>G
c.4908T>G (p.Gly1636=)
c.4890T>G (p.Gly1630=)
c.4906+2T>G (n.4906+2T>G)
c.4851T>G (p.Gly1617=)
c.4972+2T>G (n.4972+2T>G)
c.4954+2T>G (n.4954+2T>G)
12g.6581042A>GCA383569863CHD4c.4872T>C (p.Gly1624=)
c.4909+2T>C (n.4909+2T>C)
c.4984+2T>C (n.4984+2T>C)
c.4835+2T>C
c.1160+2T>C
c.*573+2T>C (n.*573+2T>C)
c.4933+2T>C (n.4933+2T>C)
c.4882+2T>C (n.4882+2T>C)
c.1446T>C (p.Gly482=)
c.3623+2T>C
c.842+2T>C
c.4888+2T>C (n.4888+2T>C)
c.4960+2T>C (n.4960+2T>C)
c.2767+2T>C (n.2767+2T>C)
n.2868T>C
c.183+2T>C
c.*1669+2T>C (n.*1669+2T>C)
c.4911T>C (p.Gly1637=)
c.4993+2T>C (n.4993+2T>C)
c.4870+2T>C (n.4870+2T>C)
c.9+6342T>C (n.9+6342T>C)
n.1181+2T>C
n.4489+2T>C
c.982T>C
c.3834+2T>C
c.4849+2T>C (n.4849+2T>C)
c.2958+2T>C
n.1779+2T>C
n.129T>C
c.4908T>C (p.Gly1636=)
c.4890T>C (p.Gly1630=)
c.4906+2T>C (n.4906+2T>C)
c.4851T>C (p.Gly1617=)
c.4972+2T>C (n.4972+2T>C)
c.4954+2T>C (n.4954+2T>C)
12g.6581042A>TCA383569864CHD4c.4872T>A (p.Gly1624=)
c.4909+2T>A (n.4909+2T>A)
c.4984+2T>A (n.4984+2T>A)
c.4835+2T>A
c.1160+2T>A
c.*573+2T>A (n.*573+2T>A)
c.4933+2T>A (n.4933+2T>A)
c.4882+2T>A (n.4882+2T>A)
c.1446T>A (p.Gly482=)
c.3623+2T>A
c.842+2T>A
c.4888+2T>A (n.4888+2T>A)
c.4960+2T>A (n.4960+2T>A)
c.2767+2T>A (n.2767+2T>A)
n.2868T>A
c.183+2T>A
c.*1669+2T>A (n.*1669+2T>A)
c.4911T>A (p.Gly1637=)
c.4993+2T>A (n.4993+2T>A)
c.4870+2T>A (n.4870+2T>A)
c.9+6342T>A (n.9+6342T>A)
n.1181+2T>A
n.4489+2T>A
c.982T>A
c.3834+2T>A
c.4849+2T>A (n.4849+2T>A)
c.2958+2T>A
n.1779+2T>A
n.129T>A
c.4908T>A (p.Gly1636=)
c.4890T>A (p.Gly1630=)
c.4906+2T>A (n.4906+2T>A)
c.4851T>A (p.Gly1617=)
c.4972+2T>A (n.4972+2T>A)
c.4954+2T>A (n.4954+2T>A)
12g.6581043C>ACA383569865CHD4c.4871G>T (p.Gly1624Val)
c.4909+1G>T (n.4909+1G>T)
c.4984+1G>T (n.4984+1G>T)
c.4835+1G>T
c.1160+1G>T
c.*573+1G>T (n.*573+1G>T)
c.4933+1G>T (n.4933+1G>T)
c.4882+1G>T (n.4882+1G>T)
c.1445G>T (p.Gly482Val)
c.3623+1G>T
c.842+1G>T
c.4888+1G>T (n.4888+1G>T)
c.4960+1G>T (n.4960+1G>T)
c.2767+1G>T (n.2767+1G>T)
n.2867G>T
c.183+1G>T
c.*1669+1G>T (n.*1669+1G>T)
c.4910G>T (p.Gly1637Val)
c.4993+1G>T (n.4993+1G>T)
c.4870+1G>T (n.4870+1G>T)
c.9+6341G>T (n.9+6341G>T)
n.1181+1G>T
n.4489+1G>T
c.981G>T
c.3834+1G>T
c.4849+1G>T (n.4849+1G>T)
c.2958+1G>T
n.1779+1G>T
n.128G>T
c.4907G>T (p.Gly1636Val)
c.4889G>T (p.Gly1630Val)
c.4906+1G>T (n.4906+1G>T)
c.4850G>T (p.Gly1617Val)
c.4972+1G>T (n.4972+1G>T)
c.4954+1G>T (n.4954+1G>T)
12g.6581043C=CA2014144924CHD4c.4871G= (p.Gly1624=)
c.4909+1G= (n.4909+1G=)
c.4984+1G= (n.4984+1G=)
c.4835+1G=
c.1160+1G=
c.*573+1G= (n.*573+1G=)
c.4933+1G= (n.4933+1G=)
c.4882+1G= (n.4882+1G=)
c.1445G= (p.Gly482=)
c.3623+1G=
c.842+1G=
c.4888+1G= (n.4888+1G=)
c.4960+1G= (n.4960+1G=)
c.2767+1G= (n.2767+1G=)
n.2867G=
c.183+1G=
c.*1669+1G= (n.*1669+1G=)
c.4910G= (p.Gly1637=)
c.4993+1G= (n.4993+1G=)
c.4870+1G= (n.4870+1G=)
c.9+6341G= (n.9+6341G=)
n.1181+1G=
n.4489+1G=
c.981G=
c.3834+1G=
c.4849+1G= (n.4849+1G=)
c.2958+1G=
n.1779+1G=
n.128G=
c.4907G= (p.Gly1636=)
c.4889G= (p.Gly1630=)
c.4906+1G= (n.4906+1G=)
c.4850G= (p.Gly1617=)
c.4972+1G= (n.4972+1G=)
c.4954+1G= (n.4954+1G=)
12g.6581043C>GCA383569869CHD4c.4871G>C (p.Gly1624Ala)
c.4909+1G>C (n.4909+1G>C)
c.4984+1G>C (n.4984+1G>C)
c.4835+1G>C
c.1160+1G>C
c.*573+1G>C (n.*573+1G>C)
c.4933+1G>C (n.4933+1G>C)
c.4882+1G>C (n.4882+1G>C)
c.1445G>C (p.Gly482Ala)
c.3623+1G>C
c.842+1G>C
c.4888+1G>C (n.4888+1G>C)
c.4960+1G>C (n.4960+1G>C)
c.2767+1G>C (n.2767+1G>C)
n.2867G>C
c.183+1G>C
c.*1669+1G>C (n.*1669+1G>C)
c.4910G>C (p.Gly1637Ala)
c.4993+1G>C (n.4993+1G>C)
c.4870+1G>C (n.4870+1G>C)
c.9+6341G>C (n.9+6341G>C)
n.1181+1G>C
n.4489+1G>C
c.981G>C
c.3834+1G>C
c.4849+1G>C (n.4849+1G>C)
c.2958+1G>C
n.1779+1G>C
n.128G>C
c.4907G>C (p.Gly1636Ala)
c.4889G>C (p.Gly1630Ala)
c.4906+1G>C (n.4906+1G>C)
c.4850G>C (p.Gly1617Ala)
c.4972+1G>C (n.4972+1G>C)
c.4954+1G>C (n.4954+1G>C)
12g.6581043C>TCA383569872CHD4c.4871G>A (p.Gly1624Asp)
c.4909+1G>A (n.4909+1G>A)
c.4984+1G>A (n.4984+1G>A)
c.4835+1G>A
c.1160+1G>A
c.*573+1G>A (n.*573+1G>A)
c.4933+1G>A (n.4933+1G>A)
c.4882+1G>A (n.4882+1G>A)
c.1445G>A (p.Gly482Asp)
c.3623+1G>A
c.842+1G>A
c.4888+1G>A (n.4888+1G>A)
c.4960+1G>A (n.4960+1G>A)
c.2767+1G>A (n.2767+1G>A)
n.2867G>A
c.183+1G>A
c.*1669+1G>A (n.*1669+1G>A)
c.4910G>A (p.Gly1637Asp)
c.4993+1G>A (n.4993+1G>A)
c.4870+1G>A (n.4870+1G>A)
c.9+6341G>A (n.9+6341G>A)
n.1181+1G>A
n.4489+1G>A
c.981G>A
c.3834+1G>A
c.4849+1G>A (n.4849+1G>A)
c.2958+1G>A
n.1779+1G>A
n.128G>A
c.4907G>A (p.Gly1636Asp)
c.4889G>A (p.Gly1630Asp)
c.4906+1G>A (n.4906+1G>A)
c.4850G>A (p.Gly1617Asp)
c.4972+1G>A (n.4972+1G>A)
c.4954+1G>A (n.4954+1G>A)
 ClinVar dbSNP gnomAD v4
12g.6581044C>ACA383569886CHD4c.4870G>T (p.Gly1624Cys)
c.4909G>T (p.Gly1637Cys)
c.4984G>T (p.Gly1662Cys)
c.4835G>T
c.1160G>T
c.*573G>T (n.*573G>T)
c.4933G>T (p.Gly1645Cys)
c.4882G>T (p.Gly1628Cys)
c.1444G>T (p.Gly482Cys)
c.3623G>T
c.842G>T
c.4888G>T (p.Gly1630Cys)
c.4960G>T (p.Gly1654Cys)
c.2767G>T (p.Gly923Cys)
n.2866G>T
c.4888G>T (p.Gly1630Ter)
c.183G>T
c.*1669G>T (n.*1669G>T)
c.4993G>T (p.Gly1665Cys)
c.9+6340G>T (n.9+6340G>T)
n.1181G>T
n.4489G>T
c.980G>T
c.3834G>T
c.4849G>T (p.Gly1617Cys)
c.2958G>T
n.1779G>T
n.127G>T
c.4906G>T (p.Gly1636Cys)
c.4972G>T (p.Gly1658Cys)
c.4954G>T (p.Gly1652Cys)
12g.6581044C=CA2014144925CHD4c.4870G= (p.Gly1624=)
c.4909G= (p.Gly1637=)
c.4984G= (p.Gly1662=)
c.4835G=
c.1160G=
c.*573G= (n.*573G=)
c.4933G= (p.Gly1645=)
c.4882G= (p.Gly1628=)
c.1444G= (p.Gly482=)
c.3623G=
c.842G=
c.4888G= (p.Gly1630=)
c.4960G= (p.Gly1654=)
c.2767G= (p.Gly923=)
n.2866G=
c.183G=
c.*1669G= (n.*1669G=)
c.4993G= (p.Gly1665=)
c.9+6340G= (n.9+6340G=)
n.1181G=
n.4489G=
c.980G=
c.3834G=
c.4849G= (p.Gly1617=)
c.2958G=
n.1779G=
n.127G=
c.4906G= (p.Gly1636=)
c.4972G= (p.Gly1658=)
c.4954G= (p.Gly1652=)
12g.6581044C>GCA383569889CHD4c.4870G>C (p.Gly1624Arg)
c.4909G>C (p.Gly1637Arg)
c.4984G>C (p.Gly1662Arg)
c.4835G>C
c.1160G>C
c.*573G>C (n.*573G>C)
c.4933G>C (p.Gly1645Arg)
c.4882G>C (p.Gly1628Arg)
c.1444G>C (p.Gly482Arg)
c.3623G>C
c.842G>C
c.4888G>C (p.Gly1630Arg)
c.4960G>C (p.Gly1654Arg)
c.2767G>C (p.Gly923Arg)
n.2866G>C
c.183G>C
c.*1669G>C (n.*1669G>C)
c.4993G>C (p.Gly1665Arg)
c.9+6340G>C (n.9+6340G>C)
n.1181G>C
n.4489G>C
c.980G>C
c.3834G>C
c.4849G>C (p.Gly1617Arg)
c.2958G>C
n.1779G>C
n.127G>C
c.4906G>C (p.Gly1636Arg)
c.4972G>C (p.Gly1658Arg)
c.4954G>C (p.Gly1652Arg)
12g.6581044C>TCA6411403CHD4c.4870G>A (p.Gly1624Ser)
c.4909G>A (p.Gly1637Ser)
c.4984G>A (p.Gly1662Ser)
c.4835G>A
c.1160G>A
c.*573G>A (n.*573G>A)
c.4933G>A (p.Gly1645Ser)
c.4882G>A (p.Gly1628Ser)
c.1444G>A (p.Gly482Ser)
c.3623G>A
c.842G>A
c.4888G>A (p.Gly1630Ser)
c.4960G>A (p.Gly1654Ser)
c.2767G>A (p.Gly923Ser)
n.2866G>A
c.4888G>A (p.Gly1630Arg)
c.183G>A
c.*1669G>A (n.*1669G>A)
c.4993G>A (p.Gly1665Ser)
c.9+6340G>A (n.9+6340G>A)
n.1181G>A
n.4489G>A
c.980G>A
c.3834G>A
c.4849G>A (p.Gly1617Ser)
c.2958G>A
n.1779G>A
n.127G>A
c.4906G>A (p.Gly1636Ser)
c.4972G>A (p.Gly1658Ser)
c.4954G>A (p.Gly1652Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.6581045T>ACA383569905CHD4c.4869A>T (p.Lys1623Asn)
c.4908A>T (p.Lys1636Asn)
c.4983A>T (p.Lys1661Asn)
c.4834A>T
c.1159A>T
c.*572A>T (n.*572A>T)
c.4932A>T (p.Lys1644Asn)
c.4881A>T (p.Lys1627Asn)
c.1443A>T (p.Lys481Asn)
c.3622A>T
c.841A>T
c.4887A>T (p.Lys1629Asn)
c.4959A>T (p.Lys1653Asn)
c.2766A>T (p.Lys922Asn)
n.2865A>T
c.182A>T
c.*1668A>T (n.*1668A>T)
c.4992A>T (p.Lys1664Asn)
c.9+6339A>T (n.9+6339A>T)
n.1180A>T
n.4488A>T
c.979A>T
c.3833A>T
c.4848A>T (p.Lys1616Asn)
c.2957A>T
n.1778A>T
n.126A>T
c.4905A>T (p.Lys1635Asn)
c.4971A>T (p.Lys1657Asn)
c.4953A>T (p.Lys1651Asn)
12g.6581045T>CCA478509115CHD4c.4869A>G (p.Lys1623=)
c.4908A>G (p.Lys1636=)
c.4983A>G (p.Lys1661=)
c.4834A>G
c.1159A>G
c.*572A>G (n.*572A>G)
c.4932A>G (p.Lys1644=)
c.4881A>G (p.Lys1627=)
c.1443A>G (p.Lys481=)
c.3622A>G
c.841A>G
c.4887A>G (p.Lys1629=)
c.4959A>G (p.Lys1653=)
c.2766A>G (p.Lys922=)
n.2865A>G
c.182A>G
c.*1668A>G (n.*1668A>G)
c.4992A>G (p.Lys1664=)
c.9+6339A>G (n.9+6339A>G)
n.1180A>G
n.4488A>G
c.979A>G
c.3833A>G
c.4848A>G (p.Lys1616=)
c.2957A>G
n.1778A>G
n.126A>G
c.4905A>G (p.Lys1635=)
c.4971A>G (p.Lys1657=)
c.4953A>G (p.Lys1651=)
 gnomAD v4
12g.6581045T>GCA383569894CHD4c.4869A>C (p.Lys1623Asn)
c.4908A>C (p.Lys1636Asn)
c.4983A>C (p.Lys1661Asn)
c.4834A>C
c.1159A>C
c.*572A>C (n.*572A>C)
c.4932A>C (p.Lys1644Asn)
c.4881A>C (p.Lys1627Asn)
c.1443A>C (p.Lys481Asn)
c.3622A>C
c.841A>C
c.4887A>C (p.Lys1629Asn)
c.4959A>C (p.Lys1653Asn)
c.2766A>C (p.Lys922Asn)
n.2865A>C
c.182A>C
c.*1668A>C (n.*1668A>C)
c.4992A>C (p.Lys1664Asn)
c.9+6339A>C (n.9+6339A>C)
n.1180A>C
n.4488A>C
c.979A>C
c.3833A>C
c.4848A>C (p.Lys1616Asn)
c.2957A>C
n.1778A>C
n.126A>C
c.4905A>C (p.Lys1635Asn)
c.4971A>C (p.Lys1657Asn)
c.4953A>C (p.Lys1651Asn)
12g.6581046T>ACA383569910CHD4c.4868A>T (p.Lys1623Ile)
c.4907A>T (p.Lys1636Ile)
c.4982A>T (p.Lys1661Ile)
c.4833A>T
c.1158A>T
c.*571A>T (n.*571A>T)
c.4931A>T (p.Lys1644Ile)
c.4880A>T (p.Lys1627Ile)
c.1442A>T (p.Lys481Ile)
c.3621A>T
c.840A>T
c.4886A>T (p.Lys1629Ile)
c.4958A>T (p.Lys1653Ile)
c.2765A>T (p.Lys922Ile)
n.2864A>T
c.181A>T
c.*1667A>T (n.*1667A>T)
c.4991A>T (p.Lys1664Ile)
c.9+6338A>T (n.9+6338A>T)
n.1179A>T
n.4487A>T
c.978A>T
c.3832A>T
c.4847A>T (p.Lys1616Ile)
c.2956A>T
n.1777A>T
n.125A>T
c.4904A>T (p.Lys1635Ile)
c.4970A>T (p.Lys1657Ile)
c.4952A>T (p.Lys1651Ile)
12g.6581046T>CCA383569912CHD4c.4868A>G (p.Lys1623Arg)
c.4907A>G (p.Lys1636Arg)
c.4982A>G (p.Lys1661Arg)
c.4833A>G
c.1158A>G
c.*571A>G (n.*571A>G)
c.4931A>G (p.Lys1644Arg)
c.4880A>G (p.Lys1627Arg)
c.1442A>G (p.Lys481Arg)
c.3621A>G
c.840A>G
c.4886A>G (p.Lys1629Arg)
c.4958A>G (p.Lys1653Arg)
c.2765A>G (p.Lys922Arg)
n.2864A>G
c.181A>G
c.*1667A>G (n.*1667A>G)
c.4991A>G (p.Lys1664Arg)
c.9+6338A>G (n.9+6338A>G)
n.1179A>G
n.4487A>G
c.978A>G
c.3832A>G
c.4847A>G (p.Lys1616Arg)
c.2956A>G
n.1777A>G
n.125A>G
c.4904A>G (p.Lys1635Arg)
c.4970A>G (p.Lys1657Arg)
c.4952A>G (p.Lys1651Arg)
12g.6581046T>GCA383569915CHD4c.4868A>C (p.Lys1623Thr)
c.4907A>C (p.Lys1636Thr)
c.4982A>C (p.Lys1661Thr)
c.4833A>C
c.1158A>C
c.*571A>C (n.*571A>C)
c.4931A>C (p.Lys1644Thr)
c.4880A>C (p.Lys1627Thr)
c.1442A>C (p.Lys481Thr)
c.3621A>C
c.840A>C
c.4886A>C (p.Lys1629Thr)
c.4958A>C (p.Lys1653Thr)
c.2765A>C (p.Lys922Thr)
n.2864A>C
c.181A>C
c.*1667A>C (n.*1667A>C)
c.4991A>C (p.Lys1664Thr)
c.9+6338A>C (n.9+6338A>C)
n.1179A>C
n.4487A>C
c.978A>C
c.3832A>C
c.4847A>C (p.Lys1616Thr)
c.2956A>C
n.1777A>C
n.125A>C
c.4904A>C (p.Lys1635Thr)
c.4970A>C (p.Lys1657Thr)
c.4952A>C (p.Lys1651Thr)
12g.6581047T>ACA383569920CHD4c.4867A>T (p.Lys1623Ter)
c.4906A>T (p.Lys1636Ter)
c.4981A>T (p.Lys1661Ter)
c.4832A>T
c.1157A>T
c.*570A>T (n.*570A>T)
c.4930A>T (p.Lys1644Ter)
c.4879A>T (p.Lys1627Ter)
c.1441A>T (p.Lys481Ter)
c.3620A>T
c.839A>T
c.4885A>T (p.Lys1629Ter)
c.4957A>T (p.Lys1653Ter)
c.2764A>T (p.Lys922Ter)
n.2863A>T
c.180A>T
c.*1666A>T (n.*1666A>T)
c.4990A>T (p.Lys1664Ter)
c.9+6337A>T (n.9+6337A>T)
n.1178A>T
n.4486A>T
c.977A>T
c.3831A>T
c.4846A>T (p.Lys1616Ter)
c.2955A>T
n.1776A>T
n.124A>T
c.4903A>T (p.Lys1635Ter)
c.4969A>T (p.Lys1657Ter)
c.4951A>T (p.Lys1651Ter)
12g.6581047T>CCA383569922CHD4c.4867A>G (p.Lys1623Glu)
c.4906A>G (p.Lys1636Glu)
c.4981A>G (p.Lys1661Glu)
c.4832A>G
c.1157A>G
c.*570A>G (n.*570A>G)
c.4930A>G (p.Lys1644Glu)
c.4879A>G (p.Lys1627Glu)
c.1441A>G (p.Lys481Glu)
c.3620A>G
c.839A>G
c.4885A>G (p.Lys1629Glu)
c.4957A>G (p.Lys1653Glu)
c.2764A>G (p.Lys922Glu)
n.2863A>G
c.180A>G
c.*1666A>G (n.*1666A>G)
c.4990A>G (p.Lys1664Glu)
c.9+6337A>G (n.9+6337A>G)
n.1178A>G
n.4486A>G
c.977A>G
c.3831A>G
c.4846A>G (p.Lys1616Glu)
c.2955A>G
n.1776A>G
n.124A>G
c.4903A>G (p.Lys1635Glu)
c.4969A>G (p.Lys1657Glu)
c.4951A>G (p.Lys1651Glu)
 ClinVar dbSNP
12g.6581047T>GCA232386622CHD4c.4867A>C (p.Lys1623Gln)
c.4906A>C (p.Lys1636Gln)
c.4981A>C (p.Lys1661Gln)
c.4832A>C
c.1157A>C
c.*570A>C (n.*570A>C)
c.4930A>C (p.Lys1644Gln)
c.4879A>C (p.Lys1627Gln)
c.1441A>C (p.Lys481Gln)
c.3620A>C
c.839A>C
c.4885A>C (p.Lys1629Gln)
c.4957A>C (p.Lys1653Gln)
c.2764A>C (p.Lys922Gln)
n.2863A>C
c.180A>C
c.*1666A>C (n.*1666A>C)
c.4990A>C (p.Lys1664Gln)
c.9+6337A>C (n.9+6337A>C)
n.1178A>C
n.4486A>C
c.977A>C
c.3831A>C
c.4846A>C (p.Lys1616Gln)
c.2955A>C
n.1776A>C
n.124A>C
c.4903A>C (p.Lys1635Gln)
c.4969A>C (p.Lys1657Gln)
c.4951A>C (p.Lys1651Gln)
 dbSNP
12g.6581047T=CA2014144926CHD4c.4867A= (p.Lys1623=)
c.4906A= (p.Lys1636=)
c.4981A= (p.Lys1661=)
c.4832A=
c.1157A=
c.*570A= (n.*570A=)
c.4930A= (p.Lys1644=)
c.4879A= (p.Lys1627=)
c.1441A= (p.Lys481=)
c.3620A=
c.839A=
c.4885A= (p.Lys1629=)
c.4957A= (p.Lys1653=)
c.2764A= (p.Lys922=)
n.2863A=
c.180A=
c.*1666A= (n.*1666A=)
c.4990A= (p.Lys1664=)
c.9+6337A= (n.9+6337A=)
n.1178A=
n.4486A=
c.977A=
c.3831A=
c.4846A= (p.Lys1616=)
c.2955A=
n.1776A=
n.124A=
c.4903A= (p.Lys1635=)
c.4969A= (p.Lys1657=)
c.4951A= (p.Lys1651=)
12g.6581048G>ACA478509116CHD4c.4866C>T (p.Pro1622=)
c.4905C>T (p.Pro1635=)
c.4980C>T (p.Pro1660=)
c.4831C>T
c.1156C>T
c.*569C>T (n.*569C>T)
c.4929C>T (p.Pro1643=)
c.4878C>T (p.Pro1626=)
c.1440C>T (p.Pro480=)
c.3619C>T
c.838C>T
c.4884C>T (p.Pro1628=)
c.4956C>T (p.Pro1652=)
c.2763C>T (p.Pro921=)
n.2862C>T
c.179C>T
c.*1665C>T (n.*1665C>T)
c.4989C>T (p.Pro1663=)
c.9+6336C>T (n.9+6336C>T)
n.1177C>T
n.4485C>T
c.976C>T
c.3830C>T
c.4845C>T (p.Pro1615=)
c.2954C>T
n.1775C>T
n.123C>T
c.4902C>T (p.Pro1634=)
c.4968C>T (p.Pro1656=)
c.4950C>T (p.Pro1650=)
12g.6581048G>CCA478509117CHD4c.4866C>G (p.Pro1622=)
c.4905C>G (p.Pro1635=)
c.4980C>G (p.Pro1660=)
c.4831C>G
c.1156C>G
c.*569C>G (n.*569C>G)
c.4929C>G (p.Pro1643=)
c.4878C>G (p.Pro1626=)
c.1440C>G (p.Pro480=)
c.3619C>G
c.838C>G
c.4884C>G (p.Pro1628=)
c.4956C>G (p.Pro1652=)
c.2763C>G (p.Pro921=)
n.2862C>G
c.179C>G
c.*1665C>G (n.*1665C>G)
c.4989C>G (p.Pro1663=)
c.9+6336C>G (n.9+6336C>G)
n.1177C>G
n.4485C>G
c.976C>G
c.3830C>G
c.4845C>G (p.Pro1615=)
c.2954C>G
n.1775C>G
n.123C>G
c.4902C>G (p.Pro1634=)
c.4968C>G (p.Pro1656=)
c.4950C>G (p.Pro1650=)
12g.6581048G>TCA478509118CHD4c.4866C>A (p.Pro1622=)
c.4905C>A (p.Pro1635=)
c.4980C>A (p.Pro1660=)
c.4831C>A
c.1156C>A
c.*569C>A (n.*569C>A)
c.4929C>A (p.Pro1643=)
c.4878C>A (p.Pro1626=)
c.1440C>A (p.Pro480=)
c.3619C>A
c.838C>A
c.4884C>A (p.Pro1628=)
c.4956C>A (p.Pro1652=)
c.2763C>A (p.Pro921=)
n.2862C>A
c.179C>A
c.*1665C>A (n.*1665C>A)
c.4989C>A (p.Pro1663=)
c.9+6336C>A (n.9+6336C>A)
n.1177C>A
n.4485C>A
c.976C>A
c.3830C>A
c.4845C>A (p.Pro1615=)
c.2954C>A
n.1775C>A
n.123C>A
c.4902C>A (p.Pro1634=)
c.4968C>A (p.Pro1656=)
c.4950C>A (p.Pro1650=)
 gnomAD v4 COSMIC COSMIC COSMIC
12g.6581049G>ACA383569930CHD4c.4865C>T (p.Pro1622Leu)
c.4904C>T (p.Pro1635Leu)
c.4979C>T (p.Pro1660Leu)
c.4830C>T
c.1155C>T
c.*568C>T (n.*568C>T)
c.4928C>T (p.Pro1643Leu)
c.4877C>T (p.Pro1626Leu)
c.1439C>T (p.Pro480Leu)
c.3618C>T
c.837C>T
c.4883C>T (p.Pro1628Leu)
c.4955C>T (p.Pro1652Leu)
c.2762C>T (p.Pro921Leu)
n.2861C>T
c.178C>T
c.*1664C>T (n.*1664C>T)
c.4988C>T (p.Pro1663Leu)
c.9+6335C>T (n.9+6335C>T)
n.1176C>T
n.4484C>T
c.975C>T
c.3829C>T
c.4844C>T (p.Pro1615Leu)
c.2953C>T
n.1774C>T
n.122C>T
c.4901C>T (p.Pro1634Leu)
c.4967C>T (p.Pro1656Leu)
c.4949C>T (p.Pro1650Leu)
 gnomAD v4
12g.6581049G>CCA383569932CHD4c.4865C>G (p.Pro1622Arg)
c.4904C>G (p.Pro1635Arg)
c.4979C>G (p.Pro1660Arg)
c.4830C>G
c.1155C>G
c.*568C>G (n.*568C>G)
c.4928C>G (p.Pro1643Arg)
c.4877C>G (p.Pro1626Arg)
c.1439C>G (p.Pro480Arg)
c.3618C>G
c.837C>G
c.4883C>G (p.Pro1628Arg)
c.4955C>G (p.Pro1652Arg)
c.2762C>G (p.Pro921Arg)
n.2861C>G
c.178C>G
c.*1664C>G (n.*1664C>G)
c.4988C>G (p.Pro1663Arg)
c.9+6335C>G (n.9+6335C>G)
n.1176C>G
n.4484C>G
c.975C>G
c.3829C>G
c.4844C>G (p.Pro1615Arg)
c.2953C>G
n.1774C>G
n.122C>G
c.4901C>G (p.Pro1634Arg)
c.4967C>G (p.Pro1656Arg)
c.4949C>G (p.Pro1650Arg)
12g.6581049G>TCA383569933CHD4c.4865C>A (p.Pro1622His)
c.4904C>A (p.Pro1635His)
c.4979C>A (p.Pro1660His)
c.4830C>A
c.1155C>A
c.*568C>A (n.*568C>A)
c.4928C>A (p.Pro1643His)
c.4877C>A (p.Pro1626His)
c.1439C>A (p.Pro480His)
c.3618C>A
c.837C>A
c.4883C>A (p.Pro1628His)
c.4955C>A (p.Pro1652His)
c.2762C>A (p.Pro921His)
n.2861C>A
c.178C>A
c.*1664C>A (n.*1664C>A)
c.4988C>A (p.Pro1663His)
c.9+6335C>A (n.9+6335C>A)
n.1176C>A
n.4484C>A
c.975C>A
c.3829C>A
c.4844C>A (p.Pro1615His)
c.2953C>A
n.1774C>A
n.122C>A
c.4901C>A (p.Pro1634His)
c.4967C>A (p.Pro1656His)
c.4949C>A (p.Pro1650His)
12g.6581050G>ACA6411404CHD4c.4864C>T (p.Pro1622Ser)
c.4903C>T (p.Pro1635Ser)
c.4978C>T (p.Pro1660Ser)
c.4829C>T
c.1154C>T
c.*567C>T (n.*567C>T)
c.4927C>T (p.Pro1643Ser)
c.4876C>T (p.Pro1626Ser)
c.1438C>T (p.Pro480Ser)
c.3617C>T
c.836C>T
c.4882C>T (p.Pro1628Ser)
c.4954C>T (p.Pro1652Ser)
c.2761C>T (p.Pro921Ser)
n.2860C>T
c.177C>T
c.*1663C>T (n.*1663C>T)
c.4987C>T (p.Pro1663Ser)
c.9+6334C>T (n.9+6334C>T)
n.1175C>T
n.4483C>T
c.974C>T
c.3828C>T
c.4843C>T (p.Pro1615Ser)
c.2952C>T
n.1773C>T
n.121C>T
c.4900C>T (p.Pro1634Ser)
c.4966C>T (p.Pro1656Ser)
c.4948C>T (p.Pro1650Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6581050G>CCA383569934CHD4c.4864C>G (p.Pro1622Ala)
c.4903C>G (p.Pro1635Ala)
c.4978C>G (p.Pro1660Ala)
c.4829C>G
c.1154C>G
c.*567C>G (n.*567C>G)
c.4927C>G (p.Pro1643Ala)
c.4876C>G (p.Pro1626Ala)
c.1438C>G (p.Pro480Ala)
c.3617C>G
c.836C>G
c.4882C>G (p.Pro1628Ala)
c.4954C>G (p.Pro1652Ala)
c.2761C>G (p.Pro921Ala)
n.2860C>G
c.177C>G
c.*1663C>G (n.*1663C>G)
c.4987C>G (p.Pro1663Ala)
c.9+6334C>G (n.9+6334C>G)
n.1175C>G
n.4483C>G
c.974C>G
c.3828C>G
c.4843C>G (p.Pro1615Ala)
c.2952C>G
n.1773C>G
n.121C>G
c.4900C>G (p.Pro1634Ala)
c.4966C>G (p.Pro1656Ala)
c.4948C>G (p.Pro1650Ala)
 gnomAD v4
12g.6581050G=CA2014144927CHD4c.4864C= (p.Pro1622=)
c.4903C= (p.Pro1635=)
c.4978C= (p.Pro1660=)
c.4829C=
c.1154C=
c.*567C= (n.*567C=)
c.4927C= (p.Pro1643=)
c.4876C= (p.Pro1626=)
c.1438C= (p.Pro480=)
c.3617C=
c.836C=
c.4882C= (p.Pro1628=)
c.4954C= (p.Pro1652=)
c.2761C= (p.Pro921=)
n.2860C=
c.177C=
c.*1663C= (n.*1663C=)
c.4987C= (p.Pro1663=)
c.9+6334C= (n.9+6334C=)
n.1175C=
n.4483C=
c.974C=
c.3828C=
c.4843C= (p.Pro1615=)
c.2952C=
n.1773C=
n.121C=
c.4900C= (p.Pro1634=)
c.4966C= (p.Pro1656=)
c.4948C= (p.Pro1650=)
12g.6581050G>TCA383569935CHD4c.4864C>A (p.Pro1622Thr)
c.4903C>A (p.Pro1635Thr)
c.4978C>A (p.Pro1660Thr)
c.4829C>A
c.1154C>A
c.*567C>A (n.*567C>A)
c.4927C>A (p.Pro1643Thr)
c.4876C>A (p.Pro1626Thr)
c.1438C>A (p.Pro480Thr)
c.3617C>A
c.836C>A
c.4882C>A (p.Pro1628Thr)
c.4954C>A (p.Pro1652Thr)
c.2761C>A (p.Pro921Thr)
n.2860C>A
c.177C>A
c.*1663C>A (n.*1663C>A)
c.4987C>A (p.Pro1663Thr)
c.9+6334C>A (n.9+6334C>A)
n.1175C>A
n.4483C>A
c.974C>A
c.3828C>A
c.4843C>A (p.Pro1615Thr)
c.2952C>A
n.1773C>A
n.121C>A
c.4900C>A (p.Pro1634Thr)
c.4966C>A (p.Pro1656Thr)
c.4948C>A (p.Pro1650Thr)
12g.6581051C>ACA6411405CHD4c.4863G>T (p.Glu1621Asp)
c.4902G>T (p.Glu1634Asp)
c.4977G>T (p.Glu1659Asp)
c.4828G>T
c.1153G>T
c.*566G>T (n.*566G>T)
c.4926G>T (p.Glu1642Asp)
c.4875G>T (p.Glu1625Asp)
c.1437G>T (p.Glu479Asp)
c.3616G>T
c.835G>T
c.4881G>T (p.Glu1627Asp)
c.4953G>T (p.Glu1651Asp)
c.2760G>T (p.Glu920Asp)
n.2859G>T
c.176G>T
c.*1662G>T (n.*1662G>T)
c.4986G>T (p.Glu1662Asp)
c.9+6333G>T (n.9+6333G>T)
n.1174G>T
n.4482G>T
c.973G>T
c.3827G>T
c.4842G>T (p.Glu1614Asp)
c.2951G>T
n.1772G>T
n.120G>T
c.4899G>T (p.Glu1633Asp)
c.4965G>T (p.Glu1655Asp)
c.4947G>T (p.Glu1649Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6581051C=CA2014144928CHD4c.4863G= (p.Glu1621=)
c.4902G= (p.Glu1634=)
c.4977G= (p.Glu1659=)
c.4828G=
c.1153G=
c.*566G= (n.*566G=)
c.4926G= (p.Glu1642=)
c.4875G= (p.Glu1625=)
c.1437G= (p.Glu479=)
c.3616G=
c.835G=
c.4881G= (p.Glu1627=)
c.4953G= (p.Glu1651=)
c.2760G= (p.Glu920=)
n.2859G=
c.176G=
c.*1662G= (n.*1662G=)
c.4986G= (p.Glu1662=)
c.9+6333G= (n.9+6333G=)
n.1174G=
n.4482G=
c.973G=
c.3827G=
c.4842G= (p.Glu1614=)
c.2951G=
n.1772G=
n.120G=
c.4899G= (p.Glu1633=)
c.4965G= (p.Glu1655=)
c.4947G= (p.Glu1649=)
12g.6581051C>GCA383569938CHD4c.4863G>C (p.Glu1621Asp)
c.4902G>C (p.Glu1634Asp)
c.4977G>C (p.Glu1659Asp)
c.4828G>C
c.1153G>C
c.*566G>C (n.*566G>C)
c.4926G>C (p.Glu1642Asp)
c.4875G>C (p.Glu1625Asp)
c.1437G>C (p.Glu479Asp)
c.3616G>C
c.835G>C
c.4881G>C (p.Glu1627Asp)
c.4953G>C (p.Glu1651Asp)
c.2760G>C (p.Glu920Asp)
n.2859G>C
c.176G>C
c.*1662G>C (n.*1662G>C)
c.4986G>C (p.Glu1662Asp)
c.9+6333G>C (n.9+6333G>C)
n.1174G>C
n.4482G>C
c.973G>C
c.3827G>C
c.4842G>C (p.Glu1614Asp)
c.2951G>C
n.1772G>C
n.120G>C
c.4899G>C (p.Glu1633Asp)
c.4965G>C (p.Glu1655Asp)
c.4947G>C (p.Glu1649Asp)
 gnomAD v4
12g.6581051C>TCA478509119CHD4c.4863G>A (p.Glu1621=)
c.4902G>A (p.Glu1634=)
c.4977G>A (p.Glu1659=)
c.4828G>A
c.1153G>A
c.*566G>A (n.*566G>A)
c.4926G>A (p.Glu1642=)
c.4875G>A (p.Glu1625=)
c.1437G>A (p.Glu479=)
c.3616G>A
c.835G>A
c.4881G>A (p.Glu1627=)
c.4953G>A (p.Glu1651=)
c.2760G>A (p.Glu920=)
n.2859G>A
c.176G>A
c.*1662G>A (n.*1662G>A)
c.4986G>A (p.Glu1662=)
c.9+6333G>A (n.9+6333G>A)
n.1174G>A
n.4482G>A
c.973G>A
c.3827G>A
c.4842G>A (p.Glu1614=)
c.2951G>A
n.1772G>A
n.120G>A
c.4899G>A (p.Glu1633=)
c.4965G>A (p.Glu1655=)
c.4947G>A (p.Glu1649=)
12g.6581052T>ACA383569941CHD4c.4862A>T (p.Glu1621Val)
c.4901A>T (p.Glu1634Val)
c.4976A>T (p.Glu1659Val)
c.4827A>T
c.1152A>T
c.*565A>T (n.*565A>T)
c.4925A>T (p.Glu1642Val)
c.4874A>T (p.Glu1625Val)
c.1436A>T (p.Glu479Val)
c.3615A>T
c.834A>T
c.4880A>T (p.Glu1627Val)
c.4952A>T (p.Glu1651Val)
c.2759A>T (p.Glu920Val)
n.2858A>T
c.175A>T
c.*1661A>T (n.*1661A>T)
c.4985A>T (p.Glu1662Val)
c.9+6332A>T (n.9+6332A>T)
n.1173A>T
n.4481A>T
c.972A>T
c.3826A>T
c.4841A>T (p.Glu1614Val)
c.2950A>T
n.1771A>T
n.119A>T
c.4898A>T (p.Glu1633Val)
c.4964A>T (p.Glu1655Val)
c.4946A>T (p.Glu1649Val)
12g.6581052T>CCA383569943CHD4c.4862A>G (p.Glu1621Gly)
c.4901A>G (p.Glu1634Gly)
c.4976A>G (p.Glu1659Gly)
c.4827A>G
c.1152A>G
c.*565A>G (n.*565A>G)
c.4925A>G (p.Glu1642Gly)
c.4874A>G (p.Glu1625Gly)
c.1436A>G (p.Glu479Gly)
c.3615A>G
c.834A>G
c.4880A>G (p.Glu1627Gly)
c.4952A>G (p.Glu1651Gly)
c.2759A>G (p.Glu920Gly)
n.2858A>G
c.175A>G
c.*1661A>G (n.*1661A>G)
c.4985A>G (p.Glu1662Gly)
c.9+6332A>G (n.9+6332A>G)
n.1173A>G
n.4481A>G
c.972A>G
c.3826A>G
c.4841A>G (p.Glu1614Gly)
c.2950A>G
n.1771A>G
n.119A>G
c.4898A>G (p.Glu1633Gly)
c.4964A>G (p.Glu1655Gly)
c.4946A>G (p.Glu1649Gly)
12g.6581052T>GCA383569945CHD4c.4862A>C (p.Glu1621Ala)
c.4901A>C (p.Glu1634Ala)
c.4976A>C (p.Glu1659Ala)
c.4827A>C
c.1152A>C
c.*565A>C (n.*565A>C)
c.4925A>C (p.Glu1642Ala)
c.4874A>C (p.Glu1625Ala)
c.1436A>C (p.Glu479Ala)
c.3615A>C
c.834A>C
c.4880A>C (p.Glu1627Ala)
c.4952A>C (p.Glu1651Ala)
c.2759A>C (p.Glu920Ala)
n.2858A>C
c.175A>C
c.*1661A>C (n.*1661A>C)
c.4985A>C (p.Glu1662Ala)
c.9+6332A>C (n.9+6332A>C)
n.1173A>C
n.4481A>C
c.972A>C
c.3826A>C
c.4841A>C (p.Glu1614Ala)
c.2950A>C
n.1771A>C
n.119A>C
c.4898A>C (p.Glu1633Ala)
c.4964A>C (p.Glu1655Ala)
c.4946A>C (p.Glu1649Ala)
12g.6581053C>ACA383569947CHD4c.4861G>T (p.Glu1621Ter)
c.4900G>T (p.Glu1634Ter)
c.4975G>T (p.Glu1659Ter)
c.4826G>T
c.1151G>T
c.*564G>T (n.*564G>T)
c.4924G>T (p.Glu1642Ter)
c.4873G>T (p.Glu1625Ter)
c.1435G>T (p.Glu479Ter)
c.3614G>T
c.833G>T
c.4879G>T (p.Glu1627Ter)
c.4951G>T (p.Glu1651Ter)
c.2758G>T (p.Glu920Ter)
n.2857G>T
c.174G>T
c.*1660G>T (n.*1660G>T)
c.4984G>T (p.Glu1662Ter)
c.9+6331G>T (n.9+6331G>T)
n.1172G>T
n.4480G>T
c.971G>T
c.3825G>T
c.4840G>T (p.Glu1614Ter)
c.2949G>T
n.1770G>T
n.118G>T
c.4897G>T (p.Glu1633Ter)
c.4963G>T (p.Glu1655Ter)
c.4945G>T (p.Glu1649Ter)
12g.6581053C>GCA383569950CHD4c.4861G>C (p.Glu1621Gln)
c.4900G>C (p.Glu1634Gln)
c.4975G>C (p.Glu1659Gln)
c.4826G>C
c.1151G>C
c.*564G>C (n.*564G>C)
c.4924G>C (p.Glu1642Gln)
c.4873G>C (p.Glu1625Gln)
c.1435G>C (p.Glu479Gln)
c.3614G>C
c.833G>C
c.4879G>C (p.Glu1627Gln)
c.4951G>C (p.Glu1651Gln)
c.2758G>C (p.Glu920Gln)
n.2857G>C
c.174G>C
c.*1660G>C (n.*1660G>C)
c.4984G>C (p.Glu1662Gln)
c.9+6331G>C (n.9+6331G>C)
n.1172G>C
n.4480G>C
c.971G>C
c.3825G>C
c.4840G>C (p.Glu1614Gln)
c.2949G>C
n.1770G>C
n.118G>C
c.4897G>C (p.Glu1633Gln)
c.4963G>C (p.Glu1655Gln)
c.4945G>C (p.Glu1649Gln)
12g.6581053C>TCA383569952CHD4c.4861G>A (p.Glu1621Lys)
c.4900G>A (p.Glu1634Lys)
c.4975G>A (p.Glu1659Lys)
c.4826G>A
c.1151G>A
c.*564G>A (n.*564G>A)
c.4924G>A (p.Glu1642Lys)
c.4873G>A (p.Glu1625Lys)
c.1435G>A (p.Glu479Lys)
c.3614G>A
c.833G>A
c.4879G>A (p.Glu1627Lys)
c.4951G>A (p.Glu1651Lys)
c.2758G>A (p.Glu920Lys)
n.2857G>A
c.174G>A
c.*1660G>A (n.*1660G>A)
c.4984G>A (p.Glu1662Lys)
c.9+6331G>A (n.9+6331G>A)
n.1172G>A
n.4480G>A
c.971G>A
c.3825G>A
c.4840G>A (p.Glu1614Lys)
c.2949G>A
n.1770G>A
n.118G>A
c.4897G>A (p.Glu1633Lys)
c.4963G>A (p.Glu1655Lys)
c.4945G>A (p.Glu1649Lys)
12g.6581054T>ACA478509121CHD4c.4860A>T (p.Thr1620=)
c.4899A>T (p.Thr1633=)
c.4974A>T (p.Thr1658=)
c.4825A>T
c.1150A>T
c.*563A>T (n.*563A>T)
c.4923A>T (p.Thr1641=)
c.4872A>T (p.Thr1624=)
c.1434A>T (p.Thr478=)
c.3613A>T
c.832A>T
c.4878A>T (p.Thr1626=)
c.4950A>T (p.Thr1650=)
c.2757A>T (p.Thr919=)
n.2856A>T
c.173A>T
c.*1659A>T (n.*1659A>T)
c.4983A>T (p.Thr1661=)
c.9+6330A>T (n.9+6330A>T)
n.1171A>T
n.4479A>T
c.970A>T
c.3824A>T
c.4839A>T (p.Thr1613=)
c.2948A>T
n.1769A>T
n.117A>T
c.4896A>T (p.Thr1632=)
c.4962A>T (p.Thr1654=)
c.4944A>T (p.Thr1648=)
12g.6581054T>CCA6411406CHD4c.4860A>G (p.Thr1620=)
c.4899A>G (p.Thr1633=)
c.4974A>G (p.Thr1658=)
c.4825A>G
c.1150A>G
c.*563A>G (n.*563A>G)
c.4923A>G (p.Thr1641=)
c.4872A>G (p.Thr1624=)
c.1434A>G (p.Thr478=)
c.3613A>G
c.832A>G
c.4878A>G (p.Thr1626=)
c.4950A>G (p.Thr1650=)
c.2757A>G (p.Thr919=)
n.2856A>G
c.173A>G
c.*1659A>G (n.*1659A>G)
c.4983A>G (p.Thr1661=)
c.9+6330A>G (n.9+6330A>G)
n.1171A>G
n.4479A>G
c.970A>G
c.3824A>G
c.4839A>G (p.Thr1613=)
c.2948A>G
n.1769A>G
n.117A>G
c.4896A>G (p.Thr1632=)
c.4962A>G (p.Thr1654=)
c.4944A>G (p.Thr1648=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.6581054T>GCA478509120CHD4c.4860A>C (p.Thr1620=)
c.4899A>C (p.Thr1633=)
c.4974A>C (p.Thr1658=)
c.4825A>C
c.1150A>C
c.*563A>C (n.*563A>C)
c.4923A>C (p.Thr1641=)
c.4872A>C (p.Thr1624=)
c.1434A>C (p.Thr478=)
c.3613A>C
c.832A>C
c.4878A>C (p.Thr1626=)
c.4950A>C (p.Thr1650=)
c.2757A>C (p.Thr919=)
n.2856A>C
c.173A>C
c.*1659A>C (n.*1659A>C)
c.4983A>C (p.Thr1661=)
c.9+6330A>C (n.9+6330A>C)
n.1171A>C
n.4479A>C
c.970A>C
c.3824A>C
c.4839A>C (p.Thr1613=)
c.2948A>C
n.1769A>C
n.117A>C
c.4896A>C (p.Thr1632=)
c.4962A>C (p.Thr1654=)
c.4944A>C (p.Thr1648=)
12g.6581054T=CA2014144929CHD4c.4860A= (p.Thr1620=)
c.4899A= (p.Thr1633=)
c.4974A= (p.Thr1658=)
c.4825A=
c.1150A=
c.*563A= (n.*563A=)
c.4923A= (p.Thr1641=)
c.4872A= (p.Thr1624=)
c.1434A= (p.Thr478=)
c.3613A=
c.832A=
c.4878A= (p.Thr1626=)
c.4950A= (p.Thr1650=)
c.2757A= (p.Thr919=)
n.2856A=
c.173A=
c.*1659A= (n.*1659A=)
c.4983A= (p.Thr1661=)
c.9+6330A= (n.9+6330A=)
n.1171A=
n.4479A=
c.970A=
c.3824A=
c.4839A= (p.Thr1613=)
c.2948A=
n.1769A=
n.117A=
c.4896A= (p.Thr1632=)
c.4962A= (p.Thr1654=)
c.4944A= (p.Thr1648=)
12g.6581055G>ACA383569956CHD4c.4859C>T (p.Thr1620Ile)
c.4898C>T (p.Thr1633Ile)
c.4973C>T (p.Thr1658Ile)
c.4824C>T
c.1149C>T
c.*562C>T (n.*562C>T)
c.4922C>T (p.Thr1641Ile)
c.4871C>T (p.Thr1624Ile)
c.1433C>T (p.Thr478Ile)
c.3612C>T
c.831C>T
c.4877C>T (p.Thr1626Ile)
c.4949C>T (p.Thr1650Ile)
c.2756C>T (p.Thr919Ile)
n.2855C>T
c.172C>T
c.*1658C>T (n.*1658C>T)
c.4982C>T (p.Thr1661Ile)
c.9+6329C>T (n.9+6329C>T)
n.1170C>T
n.4478C>T
c.969C>T
c.3823C>T
c.4838C>T (p.Thr1613Ile)
c.2947C>T
n.1768C>T
n.116C>T
c.4895C>T (p.Thr1632Ile)
c.4961C>T (p.Thr1654Ile)
c.4943C>T (p.Thr1648Ile)
 dbSNP
12g.6581055G>CCA383569958CHD4c.4859C>G (p.Thr1620Arg)
c.4898C>G (p.Thr1633Arg)
c.4973C>G (p.Thr1658Arg)
c.4824C>G
c.1149C>G
c.*562C>G (n.*562C>G)
c.4922C>G (p.Thr1641Arg)
c.4871C>G (p.Thr1624Arg)
c.1433C>G (p.Thr478Arg)
c.3612C>G
c.831C>G
c.4877C>G (p.Thr1626Arg)
c.4949C>G (p.Thr1650Arg)
c.2756C>G (p.Thr919Arg)
n.2855C>G
c.172C>G
c.*1658C>G (n.*1658C>G)
c.4982C>G (p.Thr1661Arg)
c.9+6329C>G (n.9+6329C>G)
n.1170C>G
n.4478C>G
c.969C>G
c.3823C>G
c.4838C>G (p.Thr1613Arg)
c.2947C>G
n.1768C>G
n.116C>G
c.4895C>G (p.Thr1632Arg)
c.4961C>G (p.Thr1654Arg)
c.4943C>G (p.Thr1648Arg)
12g.6581055G=CA2014144930CHD4c.4859C= (p.Thr1620=)
c.4898C= (p.Thr1633=)
c.4973C= (p.Thr1658=)
c.4824C=
c.1149C=
c.*562C= (n.*562C=)
c.4922C= (p.Thr1641=)
c.4871C= (p.Thr1624=)
c.1433C= (p.Thr478=)
c.3612C=
c.831C=
c.4877C= (p.Thr1626=)
c.4949C= (p.Thr1650=)
c.2756C= (p.Thr919=)
n.2855C=
c.172C=
c.*1658C= (n.*1658C=)
c.4982C= (p.Thr1661=)
c.9+6329C= (n.9+6329C=)
n.1170C=
n.4478C=
c.969C=
c.3823C=
c.4838C= (p.Thr1613=)
c.2947C=
n.1768C=
n.116C=
c.4895C= (p.Thr1632=)
c.4961C= (p.Thr1654=)
c.4943C= (p.Thr1648=)
12g.6581055G>TCA383569961CHD4c.4859C>A (p.Thr1620Lys)
c.4898C>A (p.Thr1633Lys)
c.4973C>A (p.Thr1658Lys)
c.4824C>A
c.1149C>A
c.*562C>A (n.*562C>A)
c.4922C>A (p.Thr1641Lys)
c.4871C>A (p.Thr1624Lys)
c.1433C>A (p.Thr478Lys)
c.3612C>A
c.831C>A
c.4877C>A (p.Thr1626Lys)
c.4949C>A (p.Thr1650Lys)
c.2756C>A (p.Thr919Lys)
n.2855C>A
c.172C>A
c.*1658C>A (n.*1658C>A)
c.4982C>A (p.Thr1661Lys)
c.9+6329C>A (n.9+6329C>A)
n.1170C>A
n.4478C>A
c.969C>A
c.3823C>A
c.4838C>A (p.Thr1613Lys)
c.2947C>A
n.1768C>A
n.116C>A
c.4895C>A (p.Thr1632Lys)
c.4961C>A (p.Thr1654Lys)
c.4943C>A (p.Thr1648Lys)
12g.6581056T>ACA383569963CHD4c.4858A>T (p.Thr1620Ser)
c.4897A>T (p.Thr1633Ser)
c.4972A>T (p.Thr1658Ser)
c.4823A>T
c.1148A>T
c.*561A>T (n.*561A>T)
c.4921A>T (p.Thr1641Ser)
c.4870A>T (p.Thr1624Ser)
c.1432A>T (p.Thr478Ser)
c.3611A>T
c.830A>T
c.4876A>T (p.Thr1626Ser)
c.4948A>T (p.Thr1650Ser)
c.2755A>T (p.Thr919Ser)
n.2854A>T
c.171A>T
c.*1657A>T (n.*1657A>T)
c.4981A>T (p.Thr1661Ser)
c.9+6328A>T (n.9+6328A>T)
n.1169A>T
n.4477A>T
c.968A>T
c.3822A>T
c.4837A>T (p.Thr1613Ser)
c.2946A>T
n.1767A>T
n.115A>T
c.4894A>T (p.Thr1632Ser)
c.4960A>T (p.Thr1654Ser)
c.4942A>T (p.Thr1648Ser)
12g.6581056T>CCA383569964CHD4c.4858A>G (p.Thr1620Ala)
c.4897A>G (p.Thr1633Ala)
c.4972A>G (p.Thr1658Ala)
c.4823A>G
c.1148A>G
c.*561A>G (n.*561A>G)
c.4921A>G (p.Thr1641Ala)
c.4870A>G (p.Thr1624Ala)
c.1432A>G (p.Thr478Ala)
c.3611A>G
c.830A>G
c.4876A>G (p.Thr1626Ala)
c.4948A>G (p.Thr1650Ala)
c.2755A>G (p.Thr919Ala)
n.2854A>G
c.171A>G
c.*1657A>G (n.*1657A>G)
c.4981A>G (p.Thr1661Ala)
c.9+6328A>G (n.9+6328A>G)
n.1169A>G
n.4477A>G
c.968A>G
c.3822A>G
c.4837A>G (p.Thr1613Ala)
c.2946A>G
n.1767A>G
n.115A>G
c.4894A>G (p.Thr1632Ala)
c.4960A>G (p.Thr1654Ala)
c.4942A>G (p.Thr1648Ala)
12g.6581056T>GCA383569966CHD4c.4858A>C (p.Thr1620Pro)
c.4897A>C (p.Thr1633Pro)
c.4972A>C (p.Thr1658Pro)
c.4823A>C
c.1148A>C
c.*561A>C (n.*561A>C)
c.4921A>C (p.Thr1641Pro)
c.4870A>C (p.Thr1624Pro)
c.1432A>C (p.Thr478Pro)
c.3611A>C
c.830A>C
c.4876A>C (p.Thr1626Pro)
c.4948A>C (p.Thr1650Pro)
c.2755A>C (p.Thr919Pro)
n.2854A>C
c.171A>C
c.*1657A>C (n.*1657A>C)
c.4981A>C (p.Thr1661Pro)
c.9+6328A>C (n.9+6328A>C)
n.1169A>C
n.4477A>C
c.968A>C
c.3822A>C
c.4837A>C (p.Thr1613Pro)
c.2946A>C
n.1767A>C
n.115A>C
c.4894A>C (p.Thr1632Pro)
c.4960A>C (p.Thr1654Pro)
c.4942A>C (p.Thr1648Pro)
12g.6581057C>ACA383569968CHD4c.4857G>T (p.Glu1619Asp)
c.4896G>T (p.Glu1632Asp)
c.4971G>T (p.Glu1657Asp)
c.4822G>T
c.1147G>T
c.*560G>T (n.*560G>T)
c.4920G>T (p.Glu1640Asp)
c.4869G>T (p.Glu1623Asp)
c.1431G>T (p.Glu477Asp)
c.3610G>T
c.829G>T
c.4875G>T (p.Glu1625Asp)
c.4947G>T (p.Glu1649Asp)
c.2754G>T (p.Glu918Asp)
n.2853G>T
c.170G>T
c.*1656G>T (n.*1656G>T)
c.4980G>T (p.Glu1660Asp)
c.9+6327G>T (n.9+6327G>T)
n.1168G>T
n.4476G>T
c.967G>T
c.3821G>T
c.4836G>T (p.Glu1612Asp)
c.2945G>T
n.1766G>T
n.114G>T
c.4893G>T (p.Glu1631Asp)
c.4959G>T (p.Glu1653Asp)
c.4941G>T (p.Glu1647Asp)
12g.6581057C>GCA383569969CHD4c.4857G>C (p.Glu1619Asp)
c.4896G>C (p.Glu1632Asp)
c.4971G>C (p.Glu1657Asp)
c.4822G>C
c.1147G>C
c.*560G>C (n.*560G>C)
c.4920G>C (p.Glu1640Asp)
c.4869G>C (p.Glu1623Asp)
c.1431G>C (p.Glu477Asp)
c.3610G>C
c.829G>C
c.4875G>C (p.Glu1625Asp)
c.4947G>C (p.Glu1649Asp)
c.2754G>C (p.Glu918Asp)
n.2853G>C
c.170G>C
c.*1656G>C (n.*1656G>C)
c.4980G>C (p.Glu1660Asp)
c.9+6327G>C (n.9+6327G>C)
n.1168G>C
n.4476G>C
c.967G>C
c.3821G>C
c.4836G>C (p.Glu1612Asp)
c.2945G>C
n.1766G>C
n.114G>C
c.4893G>C (p.Glu1631Asp)
c.4959G>C (p.Glu1653Asp)
c.4941G>C (p.Glu1647Asp)
12g.6581057C>TCA478509122CHD4c.4857G>A (p.Glu1619=)
c.4896G>A (p.Glu1632=)
c.4971G>A (p.Glu1657=)
c.4822G>A
c.1147G>A
c.*560G>A (n.*560G>A)
c.4920G>A (p.Glu1640=)
c.4869G>A (p.Glu1623=)
c.1431G>A (p.Glu477=)
c.3610G>A
c.829G>A
c.4875G>A (p.Glu1625=)
c.4947G>A (p.Glu1649=)
c.2754G>A (p.Glu918=)
n.2853G>A
c.170G>A
c.*1656G>A (n.*1656G>A)
c.4980G>A (p.Glu1660=)
c.9+6327G>A (n.9+6327G>A)
n.1168G>A
n.4476G>A
c.967G>A
c.3821G>A
c.4836G>A (p.Glu1612=)
c.2945G>A
n.1766G>A
n.114G>A
c.4893G>A (p.Glu1631=)
c.4959G>A (p.Glu1653=)
c.4941G>A (p.Glu1647=)
12g.6581058T>ACA383569970CHD4c.4856A>T (p.Glu1619Val)
c.4895A>T (p.Glu1632Val)
c.4970A>T (p.Glu1657Val)
c.4821A>T
c.1146A>T
c.*559A>T (n.*559A>T)
c.4919A>T (p.Glu1640Val)
c.4868A>T (p.Glu1623Val)
c.1430A>T (p.Glu477Val)
c.3609A>T
c.828A>T
c.4874A>T (p.Glu1625Val)
c.4946A>T (p.Glu1649Val)
c.2753A>T (p.Glu918Val)
n.2852A>T
c.169A>T
c.*1655A>T (n.*1655A>T)
c.4979A>T (p.Glu1660Val)
c.9+6326A>T (n.9+6326A>T)
n.1167A>T
n.4475A>T
c.966A>T
c.3820A>T
c.4835A>T (p.Glu1612Val)
c.2944A>T
n.1765A>T
n.113A>T
c.4892A>T (p.Glu1631Val)
c.4958A>T (p.Glu1653Val)
c.4940A>T (p.Glu1647Val)
12g.6581058T>CCA383569971CHD4c.4856A>G (p.Glu1619Gly)
c.4895A>G (p.Glu1632Gly)
c.4970A>G (p.Glu1657Gly)
c.4821A>G
c.1146A>G
c.*559A>G (n.*559A>G)
c.4919A>G (p.Glu1640Gly)
c.4868A>G (p.Glu1623Gly)
c.1430A>G (p.Glu477Gly)
c.3609A>G
c.828A>G
c.4874A>G (p.Glu1625Gly)
c.4946A>G (p.Glu1649Gly)
c.2753A>G (p.Glu918Gly)
n.2852A>G
c.169A>G
c.*1655A>G (n.*1655A>G)
c.4979A>G (p.Glu1660Gly)
c.9+6326A>G (n.9+6326A>G)
n.1167A>G
n.4475A>G
c.966A>G
c.3820A>G
c.4835A>G (p.Glu1612Gly)
c.2944A>G
n.1765A>G
n.113A>G
c.4892A>G (p.Glu1631Gly)
c.4958A>G (p.Glu1653Gly)
c.4940A>G (p.Glu1647Gly)
12g.6581058T>GCA383569972CHD4c.4856A>C (p.Glu1619Ala)
c.4895A>C (p.Glu1632Ala)
c.4970A>C (p.Glu1657Ala)
c.4821A>C
c.1146A>C
c.*559A>C (n.*559A>C)
c.4919A>C (p.Glu1640Ala)
c.4868A>C (p.Glu1623Ala)
c.1430A>C (p.Glu477Ala)
c.3609A>C
c.828A>C
c.4874A>C (p.Glu1625Ala)
c.4946A>C (p.Glu1649Ala)
c.2753A>C (p.Glu918Ala)
n.2852A>C
c.169A>C
c.*1655A>C (n.*1655A>C)
c.4979A>C (p.Glu1660Ala)
c.9+6326A>C (n.9+6326A>C)
n.1167A>C
n.4475A>C
c.966A>C
c.3820A>C
c.4835A>C (p.Glu1612Ala)
c.2944A>C
n.1765A>C
n.113A>C
c.4892A>C (p.Glu1631Ala)
c.4958A>C (p.Glu1653Ala)
c.4940A>C (p.Glu1647Ala)
12g.6581059C>ACA383569975CHD4c.4855G>T (p.Glu1619Ter)
c.4894G>T (p.Glu1632Ter)
c.4969G>T (p.Glu1657Ter)
c.4820G>T
c.1145G>T
c.*558G>T (n.*558G>T)
c.4918G>T (p.Glu1640Ter)
c.4867G>T (p.Glu1623Ter)
c.1429G>T (p.Glu477Ter)
c.3608G>T
c.827G>T
c.4873G>T (p.Glu1625Ter)
c.4945G>T (p.Glu1649Ter)
c.2752G>T (p.Glu918Ter)
n.2851G>T
c.168G>T
c.*1654G>T (n.*1654G>T)
c.4978G>T (p.Glu1660Ter)
c.9+6325G>T (n.9+6325G>T)
n.1166G>T
n.4474G>T
c.965G>T
c.3819G>T
c.4834G>T (p.Glu1612Ter)
c.2943G>T
n.1764G>T
n.112G>T
c.4891G>T (p.Glu1631Ter)
c.4957G>T (p.Glu1653Ter)
c.4939G>T (p.Glu1647Ter)
12g.6581059C=CA2014144931CHD4c.4855G= (p.Glu1619=)
c.4894G= (p.Glu1632=)
c.4969G= (p.Glu1657=)
c.4820G=
c.1145G=
c.*558G= (n.*558G=)
c.4918G= (p.Glu1640=)
c.4867G= (p.Glu1623=)
c.1429G= (p.Glu477=)
c.3608G=
c.827G=
c.4873G= (p.Glu1625=)
c.4945G= (p.Glu1649=)
c.2752G= (p.Glu918=)
n.2851G=
c.168G=
c.*1654G= (n.*1654G=)
c.4978G= (p.Glu1660=)
c.9+6325G= (n.9+6325G=)
n.1166G=
n.4474G=
c.965G=
c.3819G=
c.4834G= (p.Glu1612=)
c.2943G=
n.1764G=
n.112G=
c.4891G= (p.Glu1631=)
c.4957G= (p.Glu1653=)
c.4939G= (p.Glu1647=)
12g.6581059C>GCA383569977CHD4c.4855G>C (p.Glu1619Gln)
c.4894G>C (p.Glu1632Gln)
c.4969G>C (p.Glu1657Gln)
c.4820G>C
c.1145G>C
c.*558G>C (n.*558G>C)
c.4918G>C (p.Glu1640Gln)
c.4867G>C (p.Glu1623Gln)
c.1429G>C (p.Glu477Gln)
c.3608G>C
c.827G>C
c.4873G>C (p.Glu1625Gln)
c.4945G>C (p.Glu1649Gln)
c.2752G>C (p.Glu918Gln)
n.2851G>C
c.168G>C
c.*1654G>C (n.*1654G>C)
c.4978G>C (p.Glu1660Gln)
c.9+6325G>C (n.9+6325G>C)
n.1166G>C
n.4474G>C
c.965G>C
c.3819G>C
c.4834G>C (p.Glu1612Gln)
c.2943G>C
n.1764G>C
n.112G>C
c.4891G>C (p.Glu1631Gln)
c.4957G>C (p.Glu1653Gln)
c.4939G>C (p.Glu1647Gln)
12g.6581059C>TCA383569980CHD4c.4855G>A (p.Glu1619Lys)
c.4894G>A (p.Glu1632Lys)
c.4969G>A (p.Glu1657Lys)
c.4820G>A
c.1145G>A
c.*558G>A (n.*558G>A)
c.4918G>A (p.Glu1640Lys)
c.4867G>A (p.Glu1623Lys)
c.1429G>A (p.Glu477Lys)
c.3608G>A
c.827G>A
c.4873G>A (p.Glu1625Lys)
c.4945G>A (p.Glu1649Lys)
c.2752G>A (p.Glu918Lys)
n.2851G>A
c.168G>A
c.*1654G>A (n.*1654G>A)
c.4978G>A (p.Glu1660Lys)
c.9+6325G>A (n.9+6325G>A)
n.1166G>A
n.4474G>A
c.965G>A
c.3819G>A
c.4834G>A (p.Glu1612Lys)
c.2943G>A
n.1764G>A
n.112G>A
c.4891G>A (p.Glu1631Lys)
c.4957G>A (p.Glu1653Lys)
c.4939G>A (p.Glu1647Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6581060delCA2562614344CHD4c.4855del (p.Glu1619ArgfsTer12)
c.4894del (p.Glu1632ArgfsTer10)
c.4969del (p.Glu1657ArgfsTer10)
c.4820del
c.1145del
c.*558del (n.*558del)
c.4918del (p.Glu1640ArgfsTer10)
c.4867del (p.Glu1623ArgfsTer10)
c.1429del (p.Glu477ArgfsTer12)
c.3608del
c.827del
c.4873del (p.Glu1625ArgfsTer?)
c.4945del (p.Glu1649ArgfsTer10)
c.2752del (p.Glu918ArgfsTer10)
n.2851del
c.168del
c.*1654del (n.*1654del)
c.4894del (p.Glu1632ArgfsTer12)
c.4873del (p.Glu1625ArgfsTer10)
c.4978del (p.Glu1660ArgfsTer10)
c.4855del (p.Glu1619ArgfsTer10)
c.9+6325del (n.9+6325del)
n.1166del
n.4474del
c.965del
c.3819del
c.4834del (p.Glu1612ArgfsTer10)
c.2943del
n.1764del
n.112del
c.4891del (p.Glu1631ArgfsTer12)
c.4873del (p.Glu1625ArgfsTer12)
c.4891del (p.Glu1631ArgfsTer10)
c.4834del (p.Glu1612ArgfsTer12)
c.4957del (p.Glu1653ArgfsTer10)
c.4939del (p.Glu1647ArgfsTer10)
12g.6581060C>ACA383569983CHD4c.4854G>T (p.Met1618Ile)
c.4893G>T (p.Met1631Ile)
c.4968G>T (p.Met1656Ile)
c.4819G>T
c.1144G>T
c.*557G>T (n.*557G>T)
c.4917G>T (p.Met1639Ile)
c.4866G>T (p.Met1622Ile)
c.1428G>T (p.Met476Ile)
c.3607G>T
c.826G>T
c.4872G>T (p.Met1624Ile)
c.4944G>T (p.Met1648Ile)
c.2751G>T (p.Met917Ile)
n.2850G>T
c.167G>T
c.*1653G>T (n.*1653G>T)
c.4977G>T (p.Met1659Ile)
c.9+6324G>T (n.9+6324G>T)
n.1165G>T
n.4473G>T
c.964G>T
c.3818G>T
c.4833G>T (p.Met1611Ile)
c.2942G>T
n.1763G>T
n.111G>T
c.4890G>T (p.Met1630Ile)
c.4956G>T (p.Met1652Ile)
c.4938G>T (p.Met1646Ile)
12g.6581060C=CA2014144932CHD4c.4854G= (p.Met1618=)
c.4893G= (p.Met1631=)
c.4968G= (p.Met1656=)
c.4819G=
c.1144G=
c.*557G= (n.*557G=)
c.4917G= (p.Met1639=)
c.4866G= (p.Met1622=)
c.1428G= (p.Met476=)
c.3607G=
c.826G=
c.4872G= (p.Met1624=)
c.4944G= (p.Met1648=)
c.2751G= (p.Met917=)
n.2850G=
c.167G=
c.*1653G= (n.*1653G=)
c.4977G= (p.Met1659=)
c.9+6324G= (n.9+6324G=)
n.1165G=
n.4473G=
c.964G=
c.3818G=
c.4833G= (p.Met1611=)
c.2942G=
n.1763G=
n.111G=
c.4890G= (p.Met1630=)
c.4956G= (p.Met1652=)
c.4938G= (p.Met1646=)
12g.6581060C>GCA383569985CHD4c.4854G>C (p.Met1618Ile)
c.4893G>C (p.Met1631Ile)
c.4968G>C (p.Met1656Ile)
c.4819G>C
c.1144G>C
c.*557G>C (n.*557G>C)
c.4917G>C (p.Met1639Ile)
c.4866G>C (p.Met1622Ile)
c.1428G>C (p.Met476Ile)
c.3607G>C
c.826G>C
c.4872G>C (p.Met1624Ile)
c.4944G>C (p.Met1648Ile)
c.2751G>C (p.Met917Ile)
n.2850G>C
c.167G>C
c.*1653G>C (n.*1653G>C)
c.4977G>C (p.Met1659Ile)
c.9+6324G>C (n.9+6324G>C)
n.1165G>C
n.4473G>C
c.964G>C
c.3818G>C
c.4833G>C (p.Met1611Ile)
c.2942G>C
n.1763G>C
n.111G>C
c.4890G>C (p.Met1630Ile)
c.4956G>C (p.Met1652Ile)
c.4938G>C (p.Met1646Ile)
12g.6581060C>TCA232386628CHD4c.4854G>A (p.Met1618Ile)
c.4893G>A (p.Met1631Ile)
c.4968G>A (p.Met1656Ile)
c.4819G>A
c.1144G>A
c.*557G>A (n.*557G>A)
c.4917G>A (p.Met1639Ile)
c.4866G>A (p.Met1622Ile)
c.1428G>A (p.Met476Ile)
c.3607G>A
c.826G>A
c.4872G>A (p.Met1624Ile)
c.4944G>A (p.Met1648Ile)
c.2751G>A (p.Met917Ile)
n.2850G>A
c.167G>A
c.*1653G>A (n.*1653G>A)
c.4977G>A (p.Met1659Ile)
c.9+6324G>A (n.9+6324G>A)
n.1165G>A
n.4473G>A
c.964G>A
c.3818G>A
c.4833G>A (p.Met1611Ile)
c.2942G>A
n.1763G>A
n.111G>A
c.4890G>A (p.Met1630Ile)
c.4956G>A (p.Met1652Ile)
c.4938G>A (p.Met1646Ile)
 dbSNP gnomAD v4
12g.6581061A>CCA383569987CHD4c.4853T>G (p.Met1618Arg)
c.4892T>G (p.Met1631Arg)
c.4967T>G (p.Met1656Arg)
c.4818T>G
c.1143T>G
c.*556T>G (n.*556T>G)
c.4916T>G (p.Met1639Arg)
c.4865T>G (p.Met1622Arg)
c.1427T>G (p.Met476Arg)
c.3606T>G
c.825T>G
c.4871T>G (p.Met1624Arg)
c.4943T>G (p.Met1648Arg)
c.2750T>G (p.Met917Arg)
n.2849T>G
c.166T>G
c.*1652T>G (n.*1652T>G)
c.4976T>G (p.Met1659Arg)
c.9+6323T>G (n.9+6323T>G)
n.1164T>G
n.4472T>G
c.963T>G
c.3817T>G
c.4832T>G (p.Met1611Arg)
c.2941T>G
n.1762T>G
n.110T>G
c.4889T>G (p.Met1630Arg)
c.4955T>G (p.Met1652Arg)
c.4937T>G (p.Met1646Arg)
12g.6581061A>GCA383569989CHD4c.4853T>C (p.Met1618Thr)
c.4892T>C (p.Met1631Thr)
c.4967T>C (p.Met1656Thr)
c.4818T>C
c.1143T>C
c.*556T>C (n.*556T>C)
c.4916T>C (p.Met1639Thr)
c.4865T>C (p.Met1622Thr)
c.1427T>C (p.Met476Thr)
c.3606T>C
c.825T>C
c.4871T>C (p.Met1624Thr)
c.4943T>C (p.Met1648Thr)
c.2750T>C (p.Met917Thr)
n.2849T>C
c.166T>C
c.*1652T>C (n.*1652T>C)
c.4976T>C (p.Met1659Thr)
c.9+6323T>C (n.9+6323T>C)
n.1164T>C
n.4472T>C
c.963T>C
c.3817T>C
c.4832T>C (p.Met1611Thr)
c.2941T>C
n.1762T>C
n.110T>C
c.4889T>C (p.Met1630Thr)
c.4955T>C (p.Met1652Thr)
c.4937T>C (p.Met1646Thr)
12g.6581061A>TCA383569991CHD4c.4853T>A (p.Met1618Lys)
c.4892T>A (p.Met1631Lys)
c.4967T>A (p.Met1656Lys)
c.4818T>A
c.1143T>A
c.*556T>A (n.*556T>A)
c.4916T>A (p.Met1639Lys)
c.4865T>A (p.Met1622Lys)
c.1427T>A (p.Met476Lys)
c.3606T>A
c.825T>A
c.4871T>A (p.Met1624Lys)
c.4943T>A (p.Met1648Lys)
c.2750T>A (p.Met917Lys)
n.2849T>A
c.166T>A
c.*1652T>A (n.*1652T>A)
c.4976T>A (p.Met1659Lys)
c.9+6323T>A (n.9+6323T>A)
n.1164T>A
n.4472T>A
c.963T>A
c.3817T>A
c.4832T>A (p.Met1611Lys)
c.2941T>A
n.1762T>A
n.110T>A
c.4889T>A (p.Met1630Lys)
c.4955T>A (p.Met1652Lys)
c.4937T>A (p.Met1646Lys)
12g.6581062T>ACA383569994CHD4c.4852A>T (p.Met1618Leu)
c.4891A>T (p.Met1631Leu)
c.4966A>T (p.Met1656Leu)
c.4817A>T
c.1142A>T
c.*555A>T (n.*555A>T)
c.4915A>T (p.Met1639Leu)
c.4864A>T (p.Met1622Leu)
c.1426A>T (p.Met476Leu)
c.3605A>T
c.824A>T
c.4870A>T (p.Met1624Leu)
c.4942A>T (p.Met1648Leu)
c.2749A>T (p.Met917Leu)
n.2848A>T
c.165A>T
c.*1651A>T (n.*1651A>T)
c.4975A>T (p.Met1659Leu)
c.9+6322A>T (n.9+6322A>T)
n.1163A>T
n.4471A>T
c.962A>T
c.3816A>T
c.4831A>T (p.Met1611Leu)
c.2940A>T
n.1761A>T
n.109A>T
c.4888A>T (p.Met1630Leu)
c.4954A>T (p.Met1652Leu)
c.4936A>T (p.Met1646Leu)
 gnomAD v4
12g.6581062T>CCA6411407CHD4c.4852A>G (p.Met1618Val)
c.4891A>G (p.Met1631Val)
c.4966A>G (p.Met1656Val)
c.4817A>G
c.1142A>G
c.*555A>G (n.*555A>G)
c.4915A>G (p.Met1639Val)
c.4864A>G (p.Met1622Val)
c.1426A>G (p.Met476Val)
c.3605A>G
c.824A>G
c.4870A>G (p.Met1624Val)
c.4942A>G (p.Met1648Val)
c.2749A>G (p.Met917Val)
n.2848A>G
c.165A>G
c.*1651A>G (n.*1651A>G)
c.4975A>G (p.Met1659Val)
c.9+6322A>G (n.9+6322A>G)
n.1163A>G
n.4471A>G
c.962A>G
c.3816A>G
c.4831A>G (p.Met1611Val)
c.2940A>G
n.1761A>G
n.109A>G
c.4888A>G (p.Met1630Val)
c.4954A>G (p.Met1652Val)
c.4936A>G (p.Met1646Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6581062T>GCA383569993CHD4c.4852A>C (p.Met1618Leu)
c.4891A>C (p.Met1631Leu)
c.4966A>C (p.Met1656Leu)
c.4817A>C
c.1142A>C
c.*555A>C (n.*555A>C)
c.4915A>C (p.Met1639Leu)
c.4864A>C (p.Met1622Leu)
c.1426A>C (p.Met476Leu)
c.3605A>C
c.824A>C
c.4870A>C (p.Met1624Leu)
c.4942A>C (p.Met1648Leu)
c.2749A>C (p.Met917Leu)
n.2848A>C
c.165A>C
c.*1651A>C (n.*1651A>C)
c.4975A>C (p.Met1659Leu)
c.9+6322A>C (n.9+6322A>C)
n.1163A>C
n.4471A>C
c.962A>C
c.3816A>C
c.4831A>C (p.Met1611Leu)
c.2940A>C
n.1761A>C
n.109A>C
c.4888A>C (p.Met1630Leu)
c.4954A>C (p.Met1652Leu)
c.4936A>C (p.Met1646Leu)
12g.6581062T=CA2014144933CHD4c.4852A= (p.Met1618=)
c.4891A= (p.Met1631=)
c.4966A= (p.Met1656=)
c.4817A=
c.1142A=
c.*555A= (n.*555A=)
c.4915A= (p.Met1639=)
c.4864A= (p.Met1622=)
c.1426A= (p.Met476=)
c.3605A=
c.824A=
c.4870A= (p.Met1624=)
c.4942A= (p.Met1648=)
c.2749A= (p.Met917=)
n.2848A=
c.165A=
c.*1651A= (n.*1651A=)
c.4975A= (p.Met1659=)
c.9+6322A= (n.9+6322A=)
n.1163A=
n.4471A=
c.962A=
c.3816A=
c.4831A= (p.Met1611=)
c.2940A=
n.1761A=
n.109A=
c.4888A= (p.Met1630=)
c.4954A= (p.Met1652=)
c.4936A= (p.Met1646=)
12g.6581063A>CCA478509123CHD4c.4851T>G (p.Pro1617=)
c.4890T>G (p.Pro1630=)
c.4965T>G (p.Pro1655=)
c.4816T>G
c.1141T>G
c.*554T>G (n.*554T>G)
c.4914T>G (p.Pro1638=)
c.4863T>G (p.Pro1621=)
c.1425T>G (p.Pro475=)
c.3604T>G
c.823T>G
c.4869T>G (p.Pro1623=)
c.4941T>G (p.Pro1647=)
c.2748T>G (p.Pro916=)
n.2847T>G
c.164T>G
c.*1650T>G (n.*1650T>G)
c.4974T>G (p.Pro1658=)
c.9+6321T>G (n.9+6321T>G)
n.1162T>G
n.4470T>G
c.961T>G
c.3815T>G
c.4830T>G (p.Pro1610=)
c.2939T>G
n.1760T>G
n.108T>G
c.4887T>G (p.Pro1629=)
c.4953T>G (p.Pro1651=)
c.4935T>G (p.Pro1645=)
12g.6581063A>GCA478509124CHD4c.4851T>C (p.Pro1617=)
c.4890T>C (p.Pro1630=)
c.4965T>C (p.Pro1655=)
c.4816T>C
c.1141T>C
c.*554T>C (n.*554T>C)
c.4914T>C (p.Pro1638=)
c.4863T>C (p.Pro1621=)
c.1425T>C (p.Pro475=)
c.3604T>C
c.823T>C
c.4869T>C (p.Pro1623=)
c.4941T>C (p.Pro1647=)
c.2748T>C (p.Pro916=)
n.2847T>C
c.164T>C
c.*1650T>C (n.*1650T>C)
c.4974T>C (p.Pro1658=)
c.9+6321T>C (n.9+6321T>C)
n.1162T>C
n.4470T>C
c.961T>C
c.3815T>C
c.4830T>C (p.Pro1610=)
c.2939T>C
n.1760T>C
n.108T>C
c.4887T>C (p.Pro1629=)
c.4953T>C (p.Pro1651=)
c.4935T>C (p.Pro1645=)
 COSMIC COSMIC COSMIC
12g.6581063A>TCA478509125CHD4c.4851T>A (p.Pro1617=)
c.4890T>A (p.Pro1630=)
c.4965T>A (p.Pro1655=)
c.4816T>A
c.1141T>A
c.*554T>A (n.*554T>A)
c.4914T>A (p.Pro1638=)
c.4863T>A (p.Pro1621=)
c.1425T>A (p.Pro475=)
c.3604T>A
c.823T>A
c.4869T>A (p.Pro1623=)
c.4941T>A (p.Pro1647=)
c.2748T>A (p.Pro916=)
n.2847T>A
c.164T>A
c.*1650T>A (n.*1650T>A)
c.4974T>A (p.Pro1658=)
c.9+6321T>A (n.9+6321T>A)
n.1162T>A
n.4470T>A
c.961T>A
c.3815T>A
c.4830T>A (p.Pro1610=)
c.2939T>A
n.1760T>A
n.108T>A
c.4887T>A (p.Pro1629=)
c.4953T>A (p.Pro1651=)
c.4935T>A (p.Pro1645=)
12g.6581064G>ACA383569999CHD4c.4850C>T (p.Pro1617Leu)
c.4889C>T (p.Pro1630Leu)
c.4964C>T (p.Pro1655Leu)
c.4815C>T
c.1140C>T
c.*553C>T (n.*553C>T)
c.4913C>T (p.Pro1638Leu)
c.4862C>T (p.Pro1621Leu)
c.1424C>T (p.Pro475Leu)
c.3603C>T
c.822C>T
c.4868C>T (p.Pro1623Leu)
c.4940C>T (p.Pro1647Leu)
c.2747C>T (p.Pro916Leu)
n.2846C>T
c.163C>T
c.*1649C>T (n.*1649C>T)
c.4973C>T (p.Pro1658Leu)
c.9+6320C>T (n.9+6320C>T)
n.1161C>T
n.4469C>T
c.960C>T
c.3814C>T
c.4829C>T (p.Pro1610Leu)
c.2938C>T
n.1759C>T
n.107C>T
c.4886C>T (p.Pro1629Leu)
c.4952C>T (p.Pro1651Leu)
c.4934C>T (p.Pro1645Leu)
12g.6581064G>CCA383569996CHD4c.4850C>G (p.Pro1617Arg)
c.4889C>G (p.Pro1630Arg)
c.4964C>G (p.Pro1655Arg)
c.4815C>G
c.1140C>G
c.*553C>G (n.*553C>G)
c.4913C>G (p.Pro1638Arg)
c.4862C>G (p.Pro1621Arg)
c.1424C>G (p.Pro475Arg)
c.3603C>G
c.822C>G
c.4868C>G (p.Pro1623Arg)
c.4940C>G (p.Pro1647Arg)
c.2747C>G (p.Pro916Arg)
n.2846C>G
c.163C>G
c.*1649C>G (n.*1649C>G)
c.4973C>G (p.Pro1658Arg)
c.9+6320C>G (n.9+6320C>G)
n.1161C>G
n.4469C>G
c.960C>G
c.3814C>G
c.4829C>G (p.Pro1610Arg)
c.2938C>G
n.1759C>G
n.107C>G
c.4886C>G (p.Pro1629Arg)
c.4952C>G (p.Pro1651Arg)
c.4934C>G (p.Pro1645Arg)
12g.6581064G>TCA383569998CHD4c.4850C>A (p.Pro1617His)
c.4889C>A (p.Pro1630His)
c.4964C>A (p.Pro1655His)
c.4815C>A
c.1140C>A
c.*553C>A (n.*553C>A)
c.4913C>A (p.Pro1638His)
c.4862C>A (p.Pro1621His)
c.1424C>A (p.Pro475His)
c.3603C>A
c.822C>A
c.4868C>A (p.Pro1623His)
c.4940C>A (p.Pro1647His)
c.2747C>A (p.Pro916His)
n.2846C>A
c.163C>A
c.*1649C>A (n.*1649C>A)
c.4973C>A (p.Pro1658His)
c.9+6320C>A (n.9+6320C>A)
n.1161C>A
n.4469C>A
c.960C>A
c.3814C>A
c.4829C>A (p.Pro1610His)
c.2938C>A
n.1759C>A
n.107C>A
c.4886C>A (p.Pro1629His)
c.4952C>A (p.Pro1651His)
c.4934C>A (p.Pro1645His)
12g.6581065G>ACA383570000CHD4c.4849C>T (p.Pro1617Ser)
c.4888C>T (p.Pro1630Ser)
c.4963C>T (p.Pro1655Ser)
c.4814C>T
c.1139C>T
c.*552C>T (n.*552C>T)
c.4912C>T (p.Pro1638Ser)
c.4861C>T (p.Pro1621Ser)
c.1423C>T (p.Pro475Ser)
c.3602C>T
c.821C>T
c.4867C>T (p.Pro1623Ser)
c.4939C>T (p.Pro1647Ser)
c.2746C>T (p.Pro916Ser)
n.2845C>T
c.162C>T
c.*1648C>T (n.*1648C>T)
c.4972C>T (p.Pro1658Ser)
c.9+6319C>T (n.9+6319C>T)
n.1160C>T
n.4468C>T
c.959C>T
c.3813C>T
c.4828C>T (p.Pro1610Ser)
c.2937C>T
n.1758C>T
n.106C>T
c.4885C>T (p.Pro1629Ser)
c.4951C>T (p.Pro1651Ser)
c.4933C>T (p.Pro1645Ser)
12g.6581065G>CCA383570001CHD4c.4849C>G (p.Pro1617Ala)
c.4888C>G (p.Pro1630Ala)
c.4963C>G (p.Pro1655Ala)
c.4814C>G
c.1139C>G
c.*552C>G (n.*552C>G)
c.4912C>G (p.Pro1638Ala)
c.4861C>G (p.Pro1621Ala)
c.1423C>G (p.Pro475Ala)
c.3602C>G
c.821C>G
c.4867C>G (p.Pro1623Ala)
c.4939C>G (p.Pro1647Ala)
c.2746C>G (p.Pro916Ala)
n.2845C>G
c.162C>G
c.*1648C>G (n.*1648C>G)
c.4972C>G (p.Pro1658Ala)
c.9+6319C>G (n.9+6319C>G)
n.1160C>G
n.4468C>G
c.959C>G
c.3813C>G
c.4828C>G (p.Pro1610Ala)
c.2937C>G
n.1758C>G
n.106C>G
c.4885C>G (p.Pro1629Ala)
c.4951C>G (p.Pro1651Ala)
c.4933C>G (p.Pro1645Ala)
12g.6581065G>TCA383570003CHD4c.4849C>A (p.Pro1617Thr)
c.4888C>A (p.Pro1630Thr)
c.4963C>A (p.Pro1655Thr)
c.4814C>A
c.1139C>A
c.*552C>A (n.*552C>A)
c.4912C>A (p.Pro1638Thr)
c.4861C>A (p.Pro1621Thr)
c.1423C>A (p.Pro475Thr)
c.3602C>A
c.821C>A
c.4867C>A (p.Pro1623Thr)
c.4939C>A (p.Pro1647Thr)
c.2746C>A (p.Pro916Thr)
n.2845C>A
c.162C>A
c.*1648C>A (n.*1648C>A)
c.4972C>A (p.Pro1658Thr)
c.9+6319C>A (n.9+6319C>A)
n.1160C>A
n.4468C>A
c.959C>A
c.3813C>A
c.4828C>A (p.Pro1610Thr)
c.2937C>A
n.1758C>A
n.106C>A
c.4885C>A (p.Pro1629Thr)
c.4951C>A (p.Pro1651Thr)
c.4933C>A (p.Pro1645Thr)
12g.6581066T>ACA383570004CHD4c.4848A>T (p.Glu1616Asp)
c.4887A>T (p.Glu1629Asp)
c.4962A>T (p.Glu1654Asp)
c.4813A>T
c.1138A>T
c.*551A>T (n.*551A>T)
c.4911A>T (p.Glu1637Asp)
c.4860A>T (p.Glu1620Asp)
c.1422A>T (p.Glu474Asp)
c.3601A>T
c.820A>T
c.4866A>T (p.Glu1622Asp)
c.4938A>T (p.Glu1646Asp)
c.2745A>T (p.Glu915Asp)
n.2844A>T
c.161A>T
c.*1647A>T (n.*1647A>T)
c.4971A>T (p.Glu1657Asp)
c.9+6318A>T (n.9+6318A>T)
n.1159A>T
n.4467A>T
c.958A>T
c.3812A>T
c.4827A>T (p.Glu1609Asp)
c.2936A>T
n.1757A>T
n.105A>T
c.4884A>T (p.Glu1628Asp)
c.4950A>T (p.Glu1650Asp)
c.4932A>T (p.Glu1644Asp)
12g.6581066T>CCA6411408CHD4c.4848A>G (p.Glu1616=)
c.4887A>G (p.Glu1629=)
c.4962A>G (p.Glu1654=)
c.4813A>G
c.1138A>G
c.*551A>G (n.*551A>G)
c.4911A>G (p.Glu1637=)
c.4860A>G (p.Glu1620=)
c.1422A>G (p.Glu474=)
c.3601A>G
c.820A>G
c.4866A>G (p.Glu1622=)
c.4938A>G (p.Glu1646=)
c.2745A>G (p.Glu915=)
n.2844A>G
c.161A>G
c.*1647A>G (n.*1647A>G)
c.4971A>G (p.Glu1657=)
c.9+6318A>G (n.9+6318A>G)
n.1159A>G
n.4467A>G
c.958A>G
c.3812A>G
c.4827A>G (p.Glu1609=)
c.2936A>G
n.1757A>G
n.105A>G
c.4884A>G (p.Glu1628=)
c.4950A>G (p.Glu1650=)
c.4932A>G (p.Glu1644=)
 dbSNP ExAC gnomAD v3 gnomAD v4
12g.6581066T>GCA383570006CHD4c.4848A>C (p.Glu1616Asp)
c.4887A>C (p.Glu1629Asp)
c.4962A>C (p.Glu1654Asp)
c.4813A>C
c.1138A>C
c.*551A>C (n.*551A>C)
c.4911A>C (p.Glu1637Asp)
c.4860A>C (p.Glu1620Asp)
c.1422A>C (p.Glu474Asp)
c.3601A>C
c.820A>C
c.4866A>C (p.Glu1622Asp)
c.4938A>C (p.Glu1646Asp)
c.2745A>C (p.Glu915Asp)
n.2844A>C
c.161A>C
c.*1647A>C (n.*1647A>C)
c.4971A>C (p.Glu1657Asp)
c.9+6318A>C (n.9+6318A>C)
n.1159A>C
n.4467A>C
c.958A>C
c.3812A>C
c.4827A>C (p.Glu1609Asp)
c.2936A>C
n.1757A>C
n.105A>C
c.4884A>C (p.Glu1628Asp)
c.4950A>C (p.Glu1650Asp)
c.4932A>C (p.Glu1644Asp)
 dbSNP
12g.6581066T=CA2014144934CHD4c.4848A= (p.Glu1616=)
c.4887A= (p.Glu1629=)
c.4962A= (p.Glu1654=)
c.4813A=
c.1138A=
c.*551A= (n.*551A=)
c.4911A= (p.Glu1637=)
c.4860A= (p.Glu1620=)
c.1422A= (p.Glu474=)
c.3601A=
c.820A=
c.4866A= (p.Glu1622=)
c.4938A= (p.Glu1646=)
c.2745A= (p.Glu915=)
n.2844A=
c.161A=
c.*1647A= (n.*1647A=)
c.4971A= (p.Glu1657=)
c.9+6318A= (n.9+6318A=)
n.1159A=
n.4467A=
c.958A=
c.3812A=
c.4827A= (p.Glu1609=)
c.2936A=
n.1757A=
n.105A=
c.4884A= (p.Glu1628=)
c.4950A= (p.Glu1650=)
c.4932A= (p.Glu1644=)
12g.6581067T>ACA383570007CHD4c.4847A>T (p.Glu1616Val)
c.4886A>T (p.Glu1629Val)
c.4961A>T (p.Glu1654Val)
c.4812A>T
c.1137A>T
c.*550A>T (n.*550A>T)
c.4910A>T (p.Glu1637Val)
c.4859A>T (p.Glu1620Val)
c.1421A>T (p.Glu474Val)
c.3600A>T
c.819A>T
c.4865A>T (p.Glu1622Val)
c.4937A>T (p.Glu1646Val)
c.2744A>T (p.Glu915Val)
n.2843A>T
c.160A>T
c.*1646A>T (n.*1646A>T)
c.4970A>T (p.Glu1657Val)
c.9+6317A>T (n.9+6317A>T)
n.1158A>T
n.4466A>T
c.957A>T
c.3811A>T
c.4826A>T (p.Glu1609Val)
c.2935A>T
n.1756A>T
n.104A>T
c.4883A>T (p.Glu1628Val)
c.4949A>T (p.Glu1650Val)
c.4931A>T (p.Glu1644Val)
 dbSNP gnomAD v2 gnomAD v4
12g.6581067T>CCA383570009CHD4c.4847A>G (p.Glu1616Gly)
c.4886A>G (p.Glu1629Gly)
c.4961A>G (p.Glu1654Gly)
c.4812A>G
c.1137A>G
c.*550A>G (n.*550A>G)
c.4910A>G (p.Glu1637Gly)
c.4859A>G (p.Glu1620Gly)
c.1421A>G (p.Glu474Gly)
c.3600A>G
c.819A>G
c.4865A>G (p.Glu1622Gly)
c.4937A>G (p.Glu1646Gly)
c.2744A>G (p.Glu915Gly)
n.2843A>G
c.160A>G
c.*1646A>G (n.*1646A>G)
c.4970A>G (p.Glu1657Gly)
c.9+6317A>G (n.9+6317A>G)
n.1158A>G
n.4466A>G
c.957A>G
c.3811A>G
c.4826A>G (p.Glu1609Gly)
c.2935A>G
n.1756A>G
n.104A>G
c.4883A>G (p.Glu1628Gly)
c.4949A>G (p.Glu1650Gly)
c.4931A>G (p.Glu1644Gly)
 gnomAD v4
12g.6581067T>GCA383570011CHD4c.4847A>C (p.Glu1616Ala)
c.4886A>C (p.Glu1629Ala)
c.4961A>C (p.Glu1654Ala)
c.4812A>C
c.1137A>C
c.*550A>C (n.*550A>C)
c.4910A>C (p.Glu1637Ala)
c.4859A>C (p.Glu1620Ala)
c.1421A>C (p.Glu474Ala)
c.3600A>C
c.819A>C
c.4865A>C (p.Glu1622Ala)
c.4937A>C (p.Glu1646Ala)
c.2744A>C (p.Glu915Ala)
n.2843A>C
c.160A>C
c.*1646A>C (n.*1646A>C)
c.4970A>C (p.Glu1657Ala)
c.9+6317A>C (n.9+6317A>C)
n.1158A>C
n.4466A>C
c.957A>C
c.3811A>C
c.4826A>C (p.Glu1609Ala)
c.2935A>C
n.1756A>C
n.104A>C
c.4883A>C (p.Glu1628Ala)
c.4949A>C (p.Glu1650Ala)
c.4931A>C (p.Glu1644Ala)
12g.6581067T=CA2014144935CHD4c.4847A= (p.Glu1616=)
c.4886A= (p.Glu1629=)
c.4961A= (p.Glu1654=)
c.4812A=
c.1137A=
c.*550A= (n.*550A=)
c.4910A= (p.Glu1637=)
c.4859A= (p.Glu1620=)
c.1421A= (p.Glu474=)
c.3600A=
c.819A=
c.4865A= (p.Glu1622=)
c.4937A= (p.Glu1646=)
c.2744A= (p.Glu915=)
n.2843A=
c.160A=
c.*1646A= (n.*1646A=)
c.4970A= (p.Glu1657=)
c.9+6317A= (n.9+6317A=)
n.1158A=
n.4466A=
c.957A=
c.3811A=
c.4826A= (p.Glu1609=)
c.2935A=
n.1756A=
n.104A=
c.4883A= (p.Glu1628=)
c.4949A= (p.Glu1650=)
c.4931A= (p.Glu1644=)
12g.6581069_6581071dupCA2617294699CHD4c.4845_4847dup (p.Glu1616_Pro1617insGlu)
c.4884_4886dup (p.Glu1629_Pro1630insGlu)
c.4959_4961dup (p.Glu1654_Pro1655insGlu)
c.4810_4812dup
c.1135_1137dup
c.*548_*550dup (n.*548_*550dup)
c.4908_4910dup (p.Glu1637_Pro1638insGlu)
c.4857_4859dup (p.Glu1620_Pro1621insGlu)
c.1419_1421dup (p.Glu474_Pro475insGlu)
c.3598_3600dup
c.817_819dup
c.4863_4865dup (p.Glu1622_Pro1623insGlu)
c.4935_4937dup (p.Glu1646_Pro1647insGlu)
c.2742_2744dup (p.Glu915_Pro916insGlu)
n.2841_2843dup
c.158_160dup
c.*1644_*1646dup (n.*1644_*1646dup)
c.4968_4970dup (p.Glu1657_Pro1658insGlu)
c.9+6315_9+6317dup (n.9+6315_9+6317dup)
n.1156_1158dup
n.4464_4466dup
c.955_957dup
c.3809_3811dup
c.4824_4826dup (p.Glu1609_Pro1610insGlu)
c.2933_2935dup
n.1754_1756dup
n.102_104dup
c.4881_4883dup (p.Glu1628_Pro1629insGlu)
c.4947_4949dup (p.Glu1650_Pro1651insGlu)
c.4929_4931dup (p.Glu1644_Pro1645insGlu)
 gnomAD v4
12g.6581068C>ACA383570013CHD4c.4846G>T (p.Glu1616Ter)
c.4885G>T (p.Glu1629Ter)
c.4960G>T (p.Glu1654Ter)
c.4811G>T
c.1136G>T
c.*549G>T (n.*549G>T)
c.4909G>T (p.Glu1637Ter)
c.4858G>T (p.Glu1620Ter)
c.1420G>T (p.Glu474Ter)
c.3599G>T
c.818G>T
c.4864G>T (p.Glu1622Ter)
c.4936G>T (p.Glu1646Ter)
c.2743G>T (p.Glu915Ter)
n.2842G>T
c.159G>T
c.*1645G>T (n.*1645G>T)
c.4969G>T (p.Glu1657Ter)
c.9+6316G>T (n.9+6316G>T)
n.1157G>T
n.4465G>T
c.956G>T
c.3810G>T
c.4825G>T (p.Glu1609Ter)
c.2934G>T
n.1755G>T
n.103G>T
c.4882G>T (p.Glu1628Ter)
c.4948G>T (p.Glu1650Ter)
c.4930G>T (p.Glu1644Ter)
12g.6581068C=CA2014144936CHD4c.4846G= (p.Glu1616=)
c.4885G= (p.Glu1629=)
c.4960G= (p.Glu1654=)
c.4811G=
c.1136G=
c.*549G= (n.*549G=)
c.4909G= (p.Glu1637=)
c.4858G= (p.Glu1620=)
c.1420G= (p.Glu474=)
c.3599G=
c.818G=
c.4864G= (p.Glu1622=)
c.4936G= (p.Glu1646=)
c.2743G= (p.Glu915=)
n.2842G=
c.159G=
c.*1645G= (n.*1645G=)
c.4969G= (p.Glu1657=)
c.9+6316G= (n.9+6316G=)
n.1157G=
n.4465G=
c.956G=
c.3810G=
c.4825G= (p.Glu1609=)
c.2934G=
n.1755G=
n.103G=
c.4882G= (p.Glu1628=)
c.4948G= (p.Glu1650=)
c.4930G= (p.Glu1644=)
12g.6581068C>GCA383570015CHD4c.4846G>C (p.Glu1616Gln)
c.4885G>C (p.Glu1629Gln)
c.4960G>C (p.Glu1654Gln)
c.4811G>C
c.1136G>C
c.*549G>C (n.*549G>C)
c.4909G>C (p.Glu1637Gln)
c.4858G>C (p.Glu1620Gln)
c.1420G>C (p.Glu474Gln)
c.3599G>C
c.818G>C
c.4864G>C (p.Glu1622Gln)
c.4936G>C (p.Glu1646Gln)
c.2743G>C (p.Glu915Gln)
n.2842G>C
c.159G>C
c.*1645G>C (n.*1645G>C)
c.4969G>C (p.Glu1657Gln)
c.9+6316G>C (n.9+6316G>C)
n.1157G>C
n.4465G>C
c.956G>C
c.3810G>C
c.4825G>C (p.Glu1609Gln)
c.2934G>C
n.1755G>C
n.103G>C
c.4882G>C (p.Glu1628Gln)
c.4948G>C (p.Glu1650Gln)
c.4930G>C (p.Glu1644Gln)
 gnomAD v4
12g.6581068C>TCA6411409CHD4c.4846G>A (p.Glu1616Lys)
c.4885G>A (p.Glu1629Lys)
c.4960G>A (p.Glu1654Lys)
c.4811G>A
c.1136G>A
c.*549G>A (n.*549G>A)
c.4909G>A (p.Glu1637Lys)
c.4858G>A (p.Glu1620Lys)
c.1420G>A (p.Glu474Lys)
c.3599G>A
c.818G>A
c.4864G>A (p.Glu1622Lys)
c.4936G>A (p.Glu1646Lys)
c.2743G>A (p.Glu915Lys)
n.2842G>A
c.159G>A
c.*1645G>A (n.*1645G>A)
c.4969G>A (p.Glu1657Lys)
c.9+6316G>A (n.9+6316G>A)
n.1157G>A
n.4465G>A
c.956G>A
c.3810G>A
c.4825G>A (p.Glu1609Lys)
c.2934G>A
n.1755G>A
n.103G>A
c.4882G>A (p.Glu1628Lys)
c.4948G>A (p.Glu1650Lys)
c.4930G>A (p.Glu1644Lys)
 dbSNP ExAC gnomAD v2 COSMIC COSMIC COSMIC
12g.6581069C>ACA383570019CHD4c.4845G>T (p.Glu1615Asp)
c.4884G>T (p.Glu1628Asp)
c.4959G>T (p.Glu1653Asp)
c.4810G>T
c.1135G>T
c.*548G>T (n.*548G>T)
c.4908G>T (p.Glu1636Asp)
c.4857G>T (p.Glu1619Asp)
c.1419G>T (p.Glu473Asp)
c.3598G>T
c.817G>T
c.4863G>T (p.Glu1621Asp)
c.4935G>T (p.Glu1645Asp)
c.2742G>T (p.Glu914Asp)
n.2841G>T
c.158G>T
c.*1644G>T (n.*1644G>T)
c.4968G>T (p.Glu1656Asp)
c.9+6315G>T (n.9+6315G>T)
n.1156G>T
n.4464G>T
c.955G>T
c.3809G>T
c.4824G>T (p.Glu1608Asp)
c.2933G>T
n.1754G>T
n.102G>T
c.4881G>T (p.Glu1627Asp)
c.4947G>T (p.Glu1649Asp)
c.4929G>T (p.Glu1643Asp)
12g.6581069C>GCA383570020CHD4c.4845G>C (p.Glu1615Asp)
c.4884G>C (p.Glu1628Asp)
c.4959G>C (p.Glu1653Asp)
c.4810G>C
c.1135G>C
c.*548G>C (n.*548G>C)
c.4908G>C (p.Glu1636Asp)
c.4857G>C (p.Glu1619Asp)
c.1419G>C (p.Glu473Asp)
c.3598G>C
c.817G>C
c.4863G>C (p.Glu1621Asp)
c.4935G>C (p.Glu1645Asp)
c.2742G>C (p.Glu914Asp)
n.2841G>C
c.158G>C
c.*1644G>C (n.*1644G>C)
c.4968G>C (p.Glu1656Asp)
c.9+6315G>C (n.9+6315G>C)
n.1156G>C
n.4464G>C
c.955G>C
c.3809G>C
c.4824G>C (p.Glu1608Asp)
c.2933G>C
n.1754G>C
n.102G>C
c.4881G>C (p.Glu1627Asp)
c.4947G>C (p.Glu1649Asp)
c.4929G>C (p.Glu1643Asp)
 gnomAD v4
12g.6581069C>TCA478509126CHD4c.4845G>A (p.Glu1615=)
c.4884G>A (p.Glu1628=)
c.4959G>A (p.Glu1653=)
c.4810G>A
c.1135G>A
c.*548G>A (n.*548G>A)
c.4908G>A (p.Glu1636=)
c.4857G>A (p.Glu1619=)
c.1419G>A (p.Glu473=)
c.3598G>A
c.817G>A
c.4863G>A (p.Glu1621=)
c.4935G>A (p.Glu1645=)
c.2742G>A (p.Glu914=)
n.2841G>A
c.158G>A
c.*1644G>A (n.*1644G>A)
c.4968G>A (p.Glu1656=)
c.9+6315G>A (n.9+6315G>A)
n.1156G>A
n.4464G>A
c.955G>A
c.3809G>A
c.4824G>A (p.Glu1608=)
c.2933G>A
n.1754G>A
n.102G>A
c.4881G>A (p.Glu1627=)
c.4947G>A (p.Glu1649=)
c.4929G>A (p.Glu1643=)
 gnomAD v4
12g.6581071_6581072delCA2580615126CHD4c.4844_4845del (p.Glu1615GlyfsTer10)
c.4883_4884del (p.Glu1628GlyfsTer12)
c.4958_4959del (p.Glu1653GlyfsTer12)
c.4809_4810del
c.1134_1135del
c.*547_*548del (n.*547_*548del)
c.4907_4908del (p.Glu1636GlyfsTer12)
c.4856_4857del (p.Glu1619GlyfsTer12)
c.1418_1419del (p.Glu473GlyfsTer10)
c.3597_3598del
c.816_817del
c.4862_4863del (p.Glu1621GlyfsTer?)
c.4934_4935del (p.Glu1645GlyfsTer12)
c.2741_2742del (p.Glu914GlyfsTer12)
n.2840_2841del
c.157_158del
c.*1643_*1644del (n.*1643_*1644del)
c.4883_4884del (p.Glu1628GlyfsTer10)
c.4862_4863del (p.Glu1621GlyfsTer12)
c.4967_4968del (p.Glu1656GlyfsTer12)
c.4844_4845del (p.Glu1615GlyfsTer12)
c.9+6314_9+6315del (n.9+6314_9+6315del)
n.1155_1156del
n.4463_4464del
c.954_955del
c.3808_3809del
c.4823_4824del (p.Glu1608GlyfsTer12)
c.2932_2933del
n.1753_1754del
n.101_102del
c.4880_4881del (p.Glu1627GlyfsTer10)
c.4862_4863del (p.Glu1621GlyfsTer10)
c.4880_4881del (p.Glu1627GlyfsTer12)
c.4823_4824del (p.Glu1608GlyfsTer10)
c.4946_4947del (p.Glu1649GlyfsTer12)
c.4928_4929del (p.Glu1643GlyfsTer12)
 ClinVar
12g.6581070T>ACA383570022CHD4c.4844A>T (p.Glu1615Val)
c.4883A>T (p.Glu1628Val)
c.4958A>T (p.Glu1653Val)
c.4809A>T
c.1134A>T
c.*547A>T (n.*547A>T)
c.4907A>T (p.Glu1636Val)
c.4856A>T (p.Glu1619Val)
c.1418A>T (p.Glu473Val)
c.3597A>T
c.816A>T
c.4862A>T (p.Glu1621Val)
c.4934A>T (p.Glu1645Val)
c.2741A>T (p.Glu914Val)
n.2840A>T
c.157A>T
c.*1643A>T (n.*1643A>T)
c.4967A>T (p.Glu1656Val)
c.9+6314A>T (n.9+6314A>T)
n.1155A>T
n.4463A>T
c.954A>T
c.3808A>T
c.4823A>T (p.Glu1608Val)
c.2932A>T
n.1753A>T
n.101A>T
c.4880A>T (p.Glu1627Val)
c.4946A>T (p.Glu1649Val)
c.4928A>T (p.Glu1643Val)
12g.6581070T>CCA383570023CHD4c.4844A>G (p.Glu1615Gly)
c.4883A>G (p.Glu1628Gly)
c.4958A>G (p.Glu1653Gly)
c.4809A>G
c.1134A>G
c.*547A>G (n.*547A>G)
c.4907A>G (p.Glu1636Gly)
c.4856A>G (p.Glu1619Gly)
c.1418A>G (p.Glu473Gly)
c.3597A>G
c.816A>G
c.4862A>G (p.Glu1621Gly)
c.4934A>G (p.Glu1645Gly)
c.2741A>G (p.Glu914Gly)
n.2840A>G
c.157A>G
c.*1643A>G (n.*1643A>G)
c.4967A>G (p.Glu1656Gly)
c.9+6314A>G (n.9+6314A>G)
n.1155A>G
n.4463A>G
c.954A>G
c.3808A>G
c.4823A>G (p.Glu1608Gly)
c.2932A>G
n.1753A>G
n.101A>G
c.4880A>G (p.Glu1627Gly)
c.4946A>G (p.Glu1649Gly)
c.4928A>G (p.Glu1643Gly)
12g.6581070T>GCA383570026CHD4c.4844A>C (p.Glu1615Ala)
c.4883A>C (p.Glu1628Ala)
c.4958A>C (p.Glu1653Ala)
c.4809A>C
c.1134A>C
c.*547A>C (n.*547A>C)
c.4907A>C (p.Glu1636Ala)
c.4856A>C (p.Glu1619Ala)
c.1418A>C (p.Glu473Ala)
c.3597A>C
c.816A>C
c.4862A>C (p.Glu1621Ala)
c.4934A>C (p.Glu1645Ala)
c.2741A>C (p.Glu914Ala)
n.2840A>C
c.157A>C
c.*1643A>C (n.*1643A>C)
c.4967A>C (p.Glu1656Ala)
c.9+6314A>C (n.9+6314A>C)
n.1155A>C
n.4463A>C
c.954A>C
c.3808A>C
c.4823A>C (p.Glu1608Ala)
c.2932A>C
n.1753A>C
n.101A>C
c.4880A>C (p.Glu1627Ala)
c.4946A>C (p.Glu1649Ala)
c.4928A>C (p.Glu1643Ala)
12g.6581071C>ACA383570028CHD4c.4843G>T (p.Glu1615Ter)
c.4882G>T (p.Glu1628Ter)
c.4957G>T (p.Glu1653Ter)
c.4808G>T
c.1133G>T
c.*546G>T (n.*546G>T)
c.4906G>T (p.Glu1636Ter)
c.4855G>T (p.Glu1619Ter)
c.1417G>T (p.Glu473Ter)
c.3596G>T
c.815G>T
c.4861G>T (p.Glu1621Ter)
c.4933G>T (p.Glu1645Ter)
c.2740G>T (p.Glu914Ter)
n.2839G>T
c.156G>T
c.*1642G>T (n.*1642G>T)
c.4966G>T (p.Glu1656Ter)
c.9+6313G>T (n.9+6313G>T)
n.1154G>T
n.4462G>T
c.953G>T
c.3807G>T
c.4822G>T (p.Glu1608Ter)
c.2931G>T
n.1752G>T
n.100G>T
c.4879G>T (p.Glu1627Ter)
c.4945G>T (p.Glu1649Ter)
c.4927G>T (p.Glu1643Ter)
12g.6581071C>GCA383570034CHD4c.4843G>C (p.Glu1615Gln)
c.4882G>C (p.Glu1628Gln)
c.4957G>C (p.Glu1653Gln)
c.4808G>C
c.1133G>C
c.*546G>C (n.*546G>C)
c.4906G>C (p.Glu1636Gln)
c.4855G>C (p.Glu1619Gln)
c.1417G>C (p.Glu473Gln)
c.3596G>C
c.815G>C
c.4861G>C (p.Glu1621Gln)
c.4933G>C (p.Glu1645Gln)
c.2740G>C (p.Glu914Gln)
n.2839G>C
c.156G>C
c.*1642G>C (n.*1642G>C)
c.4966G>C (p.Glu1656Gln)
c.9+6313G>C (n.9+6313G>C)
n.1154G>C
n.4462G>C
c.953G>C
c.3807G>C
c.4822G>C (p.Glu1608Gln)
c.2931G>C
n.1752G>C
n.100G>C
c.4879G>C (p.Glu1627Gln)
c.4945G>C (p.Glu1649Gln)
c.4927G>C (p.Glu1643Gln)
12g.6581071C>TCA383570037CHD4c.4843G>A (p.Glu1615Lys)
c.4882G>A (p.Glu1628Lys)
c.4957G>A (p.Glu1653Lys)
c.4808G>A
c.1133G>A
c.*546G>A (n.*546G>A)
c.4906G>A (p.Glu1636Lys)
c.4855G>A (p.Glu1619Lys)
c.1417G>A (p.Glu473Lys)
c.3596G>A
c.815G>A
c.4861G>A (p.Glu1621Lys)
c.4933G>A (p.Glu1645Lys)
c.2740G>A (p.Glu914Lys)
n.2839G>A
c.156G>A
c.*1642G>A (n.*1642G>A)
c.4966G>A (p.Glu1656Lys)
c.9+6313G>A (n.9+6313G>A)
n.1154G>A
n.4462G>A
c.953G>A
c.3807G>A
c.4822G>A (p.Glu1608Lys)
c.2931G>A
n.1752G>A
n.100G>A
c.4879G>A (p.Glu1627Lys)
c.4945G>A (p.Glu1649Lys)
c.4927G>A (p.Glu1643Lys)
 gnomAD v4
12g.6581072T>ACA478509127CHD4c.4842A>T (p.Thr1614=)
c.4881A>T (p.Thr1627=)
c.4956A>T (p.Thr1652=)
c.4807A>T
c.1132A>T
c.*545A>T (n.*545A>T)
c.4905A>T (p.Thr1635=)
c.4854A>T (p.Thr1618=)
c.1416A>T (p.Thr472=)
c.3595A>T
c.814A>T
c.4860A>T (p.Thr1620=)
c.4932A>T (p.Thr1644=)
c.2739A>T (p.Thr913=)
n.2838A>T
c.155A>T
c.*1641A>T (n.*1641A>T)
c.4965A>T (p.Thr1655=)
c.9+6312A>T (n.9+6312A>T)
n.1153A>T
n.4461A>T
c.952A>T
c.3806A>T
c.4821A>T (p.Thr1607=)
c.2930A>T
n.1751A>T
n.99A>T
c.4878A>T (p.Thr1626=)
c.4944A>T (p.Thr1648=)
c.4926A>T (p.Thr1642=)
 COSMIC COSMIC COSMIC
12g.6581072T>CCA478509129CHD4c.4842A>G (p.Thr1614=)
c.4881A>G (p.Thr1627=)
c.4956A>G (p.Thr1652=)
c.4807A>G
c.1132A>G
c.*545A>G (n.*545A>G)
c.4905A>G (p.Thr1635=)
c.4854A>G (p.Thr1618=)
c.1416A>G (p.Thr472=)
c.3595A>G
c.814A>G
c.4860A>G (p.Thr1620=)
c.4932A>G (p.Thr1644=)
c.2739A>G (p.Thr913=)
n.2838A>G
c.155A>G
c.*1641A>G (n.*1641A>G)
c.4965A>G (p.Thr1655=)
c.9+6312A>G (n.9+6312A>G)
n.1153A>G
n.4461A>G
c.952A>G
c.3806A>G
c.4821A>G (p.Thr1607=)
c.2930A>G
n.1751A>G
n.99A>G
c.4878A>G (p.Thr1626=)
c.4944A>G (p.Thr1648=)
c.4926A>G (p.Thr1642=)
12g.6581072T>GCA478509128CHD4c.4842A>C (p.Thr1614=)
c.4881A>C (p.Thr1627=)
c.4956A>C (p.Thr1652=)
c.4807A>C
c.1132A>C
c.*545A>C (n.*545A>C)
c.4905A>C (p.Thr1635=)
c.4854A>C (p.Thr1618=)
c.1416A>C (p.Thr472=)
c.3595A>C
c.814A>C
c.4860A>C (p.Thr1620=)
c.4932A>C (p.Thr1644=)
c.2739A>C (p.Thr913=)
n.2838A>C
c.155A>C
c.*1641A>C (n.*1641A>C)
c.4965A>C (p.Thr1655=)
c.9+6312A>C (n.9+6312A>C)
n.1153A>C
n.4461A>C
c.952A>C
c.3806A>C
c.4821A>C (p.Thr1607=)
c.2930A>C
n.1751A>C
n.99A>C
c.4878A>C (p.Thr1626=)
c.4944A>C (p.Thr1648=)
c.4926A>C (p.Thr1642=)
12g.6581073G>ACA383570040CHD4c.4841C>T (p.Thr1614Ile)
c.4880C>T (p.Thr1627Ile)
c.4955C>T (p.Thr1652Ile)
c.4806C>T
c.1131C>T
c.*544C>T (n.*544C>T)
c.4904C>T (p.Thr1635Ile)
c.4853C>T (p.Thr1618Ile)
c.1415C>T (p.Thr472Ile)
c.3594C>T
c.813C>T
c.4859C>T (p.Thr1620Ile)
c.4931C>T (p.Thr1644Ile)
c.2738C>T (p.Thr913Ile)
n.2837C>T
c.154C>T
c.*1640C>T (n.*1640C>T)
c.4964C>T (p.Thr1655Ile)
c.9+6311C>T (n.9+6311C>T)
n.1152C>T
n.4460C>T
c.951C>T
c.3805C>T
c.4820C>T (p.Thr1607Ile)
c.2929C>T
n.1750C>T
n.98C>T
c.4877C>T (p.Thr1626Ile)
c.4943C>T (p.Thr1648Ile)
c.4925C>T (p.Thr1642Ile)
12g.6581073G>CCA383570043CHD4c.4841C>G (p.Thr1614Arg)
c.4880C>G (p.Thr1627Arg)
c.4955C>G (p.Thr1652Arg)
c.4806C>G
c.1131C>G
c.*544C>G (n.*544C>G)
c.4904C>G (p.Thr1635Arg)
c.4853C>G (p.Thr1618Arg)
c.1415C>G (p.Thr472Arg)
c.3594C>G
c.813C>G
c.4859C>G (p.Thr1620Arg)
c.4931C>G (p.Thr1644Arg)
c.2738C>G (p.Thr913Arg)
n.2837C>G
c.154C>G
c.*1640C>G (n.*1640C>G)
c.4964C>G (p.Thr1655Arg)
c.9+6311C>G (n.9+6311C>G)
n.1152C>G
n.4460C>G
c.951C>G
c.3805C>G
c.4820C>G (p.Thr1607Arg)
c.2929C>G
n.1750C>G
n.98C>G
c.4877C>G (p.Thr1626Arg)
c.4943C>G (p.Thr1648Arg)
c.4925C>G (p.Thr1642Arg)
12g.6581073G>TCA383570046CHD4c.4841C>A (p.Thr1614Lys)
c.4880C>A (p.Thr1627Lys)
c.4955C>A (p.Thr1652Lys)
c.4806C>A
c.1131C>A
c.*544C>A (n.*544C>A)
c.4904C>A (p.Thr1635Lys)
c.4853C>A (p.Thr1618Lys)
c.1415C>A (p.Thr472Lys)
c.3594C>A
c.813C>A
c.4859C>A (p.Thr1620Lys)
c.4931C>A (p.Thr1644Lys)
c.2738C>A (p.Thr913Lys)
n.2837C>A
c.154C>A
c.*1640C>A (n.*1640C>A)
c.4964C>A (p.Thr1655Lys)
c.9+6311C>A (n.9+6311C>A)
n.1152C>A
n.4460C>A
c.951C>A
c.3805C>A
c.4820C>A (p.Thr1607Lys)
c.2929C>A
n.1750C>A
n.98C>A
c.4877C>A (p.Thr1626Lys)
c.4943C>A (p.Thr1648Lys)
c.4925C>A (p.Thr1642Lys)
12g.6581074T>ACA383570048CHD4c.4840A>T (p.Thr1614Ser)
c.4879A>T (p.Thr1627Ser)
c.4954A>T (p.Thr1652Ser)
c.4805A>T
c.1130A>T
c.*543A>T (n.*543A>T)
c.4903A>T (p.Thr1635Ser)
c.4852A>T (p.Thr1618Ser)
c.1414A>T (p.Thr472Ser)
c.3593A>T
c.812A>T
c.4858A>T (p.Thr1620Ser)
c.4930A>T (p.Thr1644Ser)
c.2737A>T (p.Thr913Ser)
n.2836A>T
c.153A>T
c.*1639A>T (n.*1639A>T)
c.4963A>T (p.Thr1655Ser)
c.9+6310A>T (n.9+6310A>T)
n.1151A>T
n.4459A>T
c.950A>T
c.3804A>T
c.4819A>T (p.Thr1607Ser)
c.2928A>T
n.1749A>T
n.97A>T
c.4876A>T (p.Thr1626Ser)
c.4942A>T (p.Thr1648Ser)
c.4924A>T (p.Thr1642Ser)
12g.6581074T>CCA383570051CHD4c.4840A>G (p.Thr1614Ala)
c.4879A>G (p.Thr1627Ala)
c.4954A>G (p.Thr1652Ala)
c.4805A>G
c.1130A>G
c.*543A>G (n.*543A>G)
c.4903A>G (p.Thr1635Ala)
c.4852A>G (p.Thr1618Ala)
c.1414A>G (p.Thr472Ala)
c.3593A>G
c.812A>G
c.4858A>G (p.Thr1620Ala)
c.4930A>G (p.Thr1644Ala)
c.2737A>G (p.Thr913Ala)
n.2836A>G
c.153A>G
c.*1639A>G (n.*1639A>G)
c.4963A>G (p.Thr1655Ala)
c.9+6310A>G (n.9+6310A>G)
n.1151A>G
n.4459A>G
c.950A>G
c.3804A>G
c.4819A>G (p.Thr1607Ala)
c.2928A>G
n.1749A>G
n.97A>G
c.4876A>G (p.Thr1626Ala)
c.4942A>G (p.Thr1648Ala)
c.4924A>G (p.Thr1642Ala)
12g.6581074T>GCA383570053CHD4c.4840A>C (p.Thr1614Pro)
c.4879A>C (p.Thr1627Pro)
c.4954A>C (p.Thr1652Pro)
c.4805A>C
c.1130A>C
c.*543A>C (n.*543A>C)
c.4903A>C (p.Thr1635Pro)
c.4852A>C (p.Thr1618Pro)
c.1414A>C (p.Thr472Pro)
c.3593A>C
c.812A>C
c.4858A>C (p.Thr1620Pro)
c.4930A>C (p.Thr1644Pro)
c.2737A>C (p.Thr913Pro)
n.2836A>C
c.153A>C
c.*1639A>C (n.*1639A>C)
c.4963A>C (p.Thr1655Pro)
c.9+6310A>C (n.9+6310A>C)
n.1151A>C
n.4459A>C
c.950A>C
c.3804A>C
c.4819A>C (p.Thr1607Pro)
c.2928A>C
n.1749A>C
n.97A>C
c.4876A>C (p.Thr1626Pro)
c.4942A>C (p.Thr1648Pro)
c.4924A>C (p.Thr1642Pro)
12g.6581075T>ACA383570056CHD4c.4839A>T (p.Arg1613Ser)
c.4878A>T (p.Arg1626Ser)
c.4953A>T (p.Arg1651Ser)
c.4804A>T
c.1129A>T
c.*542A>T (n.*542A>T)
c.4902A>T (p.Arg1634Ser)
c.4851A>T (p.Arg1617Ser)
c.1413A>T (p.Arg471Ser)
c.3592A>T
c.811A>T
c.4857A>T (p.Arg1619Ser)
c.4929A>T (p.Arg1643Ser)
c.2736A>T (p.Arg912Ser)
n.2835A>T
c.152A>T
c.*1638A>T (n.*1638A>T)
c.4962A>T (p.Arg1654Ser)
c.9+6309A>T (n.9+6309A>T)
n.1150A>T
n.4458A>T
c.949A>T
c.3803A>T
c.4818A>T (p.Arg1606Ser)
c.2927A>T
n.1748A>T
n.96A>T
c.4875A>T (p.Arg1625Ser)
c.4941A>T (p.Arg1647Ser)
c.4923A>T (p.Arg1641Ser)
12g.6581075T>CCA478509130CHD4c.4839A>G (p.Arg1613=)
c.4878A>G (p.Arg1626=)
c.4953A>G (p.Arg1651=)
c.4804A>G
c.1129A>G
c.*542A>G (n.*542A>G)
c.4902A>G (p.Arg1634=)
c.4851A>G (p.Arg1617=)
c.1413A>G (p.Arg471=)
c.3592A>G
c.811A>G
c.4857A>G (p.Arg1619=)
c.4929A>G (p.Arg1643=)
c.2736A>G (p.Arg912=)
n.2835A>G
c.152A>G
c.*1638A>G (n.*1638A>G)
c.4962A>G (p.Arg1654=)
c.9+6309A>G (n.9+6309A>G)
n.1150A>G
n.4458A>G
c.949A>G
c.3803A>G
c.4818A>G (p.Arg1606=)
c.2927A>G
n.1748A>G
n.96A>G
c.4875A>G (p.Arg1625=)
c.4941A>G (p.Arg1647=)
c.4923A>G (p.Arg1641=)
12g.6581075T>GCA383570057CHD4c.4839A>C (p.Arg1613Ser)
c.4878A>C (p.Arg1626Ser)
c.4953A>C (p.Arg1651Ser)
c.4804A>C
c.1129A>C
c.*542A>C (n.*542A>C)
c.4902A>C (p.Arg1634Ser)
c.4851A>C (p.Arg1617Ser)
c.1413A>C (p.Arg471Ser)
c.3592A>C
c.811A>C
c.4857A>C (p.Arg1619Ser)
c.4929A>C (p.Arg1643Ser)
c.2736A>C (p.Arg912Ser)
n.2835A>C
c.152A>C
c.*1638A>C (n.*1638A>C)
c.4962A>C (p.Arg1654Ser)
c.9+6309A>C (n.9+6309A>C)
n.1150A>C
n.4458A>C
c.949A>C
c.3803A>C
c.4818A>C (p.Arg1606Ser)
c.2927A>C
n.1748A>C
n.96A>C
c.4875A>C (p.Arg1625Ser)
c.4941A>C (p.Arg1647Ser)
c.4923A>C (p.Arg1641Ser)
 dbSNP gnomAD v3 gnomAD v4
12g.6581075T=CA2014144937CHD4c.4839A= (p.Arg1613=)
c.4878A= (p.Arg1626=)
c.4953A= (p.Arg1651=)
c.4804A=
c.1129A=
c.*542A= (n.*542A=)
c.4902A= (p.Arg1634=)
c.4851A= (p.Arg1617=)
c.1413A= (p.Arg471=)
c.3592A=
c.811A=
c.4857A= (p.Arg1619=)
c.4929A= (p.Arg1643=)
c.2736A= (p.Arg912=)
n.2835A=
c.152A=
c.*1638A= (n.*1638A=)
c.4962A= (p.Arg1654=)
c.9+6309A= (n.9+6309A=)
n.1150A=
n.4458A=
c.949A=
c.3803A=
c.4818A= (p.Arg1606=)
c.2927A=
n.1748A=
n.96A=
c.4875A= (p.Arg1625=)
c.4941A= (p.Arg1647=)
c.4923A= (p.Arg1641=)
12g.6581076C>ACA383570060CHD4c.4838G>T (p.Arg1613Ile)
c.4877G>T (p.Arg1626Ile)
c.4952G>T (p.Arg1651Ile)
c.4803G>T
c.1128G>T
c.*541G>T (n.*541G>T)
c.4901G>T (p.Arg1634Ile)
c.4850G>T (p.Arg1617Ile)
c.1412G>T (p.Arg471Ile)
c.3591G>T
c.810G>T
c.4856G>T (p.Arg1619Ile)
c.4928G>T (p.Arg1643Ile)
c.2735G>T (p.Arg912Ile)
n.2834G>T
c.151G>T
c.*1637G>T (n.*1637G>T)
c.4961G>T (p.Arg1654Ile)
c.9+6308G>T (n.9+6308G>T)
n.1149G>T
n.4457G>T
c.948G>T
c.3802G>T
c.4817G>T (p.Arg1606Ile)
c.2926G>T
n.1747G>T
n.107G>T
n.95G>T
c.4874G>T (p.Arg1625Ile)
c.4940G>T (p.Arg1647Ile)
c.4922G>T (p.Arg1641Ile)
12g.6581076C=CA2014144938CHD4c.4838G= (p.Arg1613=)
c.4877G= (p.Arg1626=)
c.4952G= (p.Arg1651=)
c.4803G=
c.1128G=
c.*541G= (n.*541G=)
c.4901G= (p.Arg1634=)
c.4850G= (p.Arg1617=)
c.1412G= (p.Arg471=)
c.3591G=
c.810G=
c.4856G= (p.Arg1619=)
c.4928G= (p.Arg1643=)
c.2735G= (p.Arg912=)
n.2834G=
c.151G=
c.*1637G= (n.*1637G=)
c.4961G= (p.Arg1654=)
c.9+6308G= (n.9+6308G=)
n.1149G=
n.4457G=
c.948G=
c.3802G=
c.4817G= (p.Arg1606=)
c.2926G=
n.1747G=
n.107G=
n.95G=
c.4874G= (p.Arg1625=)
c.4940G= (p.Arg1647=)
c.4922G= (p.Arg1641=)
12g.6581076C>GCA383570061CHD4c.4838G>C (p.Arg1613Thr)
c.4877G>C (p.Arg1626Thr)
c.4952G>C (p.Arg1651Thr)
c.4803G>C
c.1128G>C
c.*541G>C (n.*541G>C)
c.4901G>C (p.Arg1634Thr)
c.4850G>C (p.Arg1617Thr)
c.1412G>C (p.Arg471Thr)
c.3591G>C
c.810G>C
c.4856G>C (p.Arg1619Thr)
c.4928G>C (p.Arg1643Thr)
c.2735G>C (p.Arg912Thr)
n.2834G>C
c.151G>C
c.*1637G>C (n.*1637G>C)
c.4961G>C (p.Arg1654Thr)
c.9+6308G>C (n.9+6308G>C)
n.1149G>C
n.4457G>C
c.948G>C
c.3802G>C
c.4817G>C (p.Arg1606Thr)
c.2926G>C
n.1747G>C
n.107G>C
n.95G>C
c.4874G>C (p.Arg1625Thr)
c.4940G>C (p.Arg1647Thr)
c.4922G>C (p.Arg1641Thr)
12g.6581076C>TCA383570064CHD4c.4838G>A (p.Arg1613Lys)
c.4877G>A (p.Arg1626Lys)
c.4952G>A (p.Arg1651Lys)
c.4803G>A
c.1128G>A
c.*541G>A (n.*541G>A)
c.4901G>A (p.Arg1634Lys)
c.4850G>A (p.Arg1617Lys)
c.1412G>A (p.Arg471Lys)
c.3591G>A
c.810G>A
c.4856G>A (p.Arg1619Lys)
c.4928G>A (p.Arg1643Lys)
c.2735G>A (p.Arg912Lys)
n.2834G>A
c.151G>A
c.*1637G>A (n.*1637G>A)
c.4961G>A (p.Arg1654Lys)
c.9+6308G>A (n.9+6308G>A)
n.1149G>A
n.4457G>A
c.948G>A
c.3802G>A
c.4817G>A (p.Arg1606Lys)
c.2926G>A
n.1747G>A
n.107G>A
n.95G>A
c.4874G>A (p.Arg1625Lys)
c.4940G>A (p.Arg1647Lys)
c.4922G>A (p.Arg1641Lys)
 dbSNP
12g.6581077T>ACA383570066CHD4c.4837A>T (p.Arg1613Ter)
c.4876A>T (p.Arg1626Ter)
c.4951A>T (p.Arg1651Ter)
c.4802A>T
c.1127A>T
c.*540A>T (n.*540A>T)
c.4900A>T (p.Arg1634Ter)
c.4849A>T (p.Arg1617Ter)
c.1411A>T (p.Arg471Ter)
c.3590A>T
c.809A>T
c.4855A>T (p.Arg1619Ter)
c.4927A>T (p.Arg1643Ter)
c.2734A>T (p.Arg912Ter)
n.2833A>T
c.150A>T
c.*1636A>T (n.*1636A>T)
c.4960A>T (p.Arg1654Ter)
c.9+6307A>T (n.9+6307A>T)
n.1148A>T
n.4456A>T
c.947A>T
c.3801A>T
c.4816A>T (p.Arg1606Ter)
c.2925A>T
n.1746A>T
n.106A>T
n.94A>T
c.4873A>T (p.Arg1625Ter)
c.4939A>T (p.Arg1647Ter)
c.4921A>T (p.Arg1641Ter)
12g.6581077T>CCA383570067CHD4c.4837A>G (p.Arg1613Gly)
c.4876A>G (p.Arg1626Gly)
c.4951A>G (p.Arg1651Gly)
c.4802A>G
c.1127A>G
c.*540A>G (n.*540A>G)
c.4900A>G (p.Arg1634Gly)
c.4849A>G (p.Arg1617Gly)
c.1411A>G (p.Arg471Gly)
c.3590A>G
c.809A>G
c.4855A>G (p.Arg1619Gly)
c.4927A>G (p.Arg1643Gly)
c.2734A>G (p.Arg912Gly)
n.2833A>G
c.150A>G
c.*1636A>G (n.*1636A>G)
c.4960A>G (p.Arg1654Gly)
c.9+6307A>G (n.9+6307A>G)
n.1148A>G
n.4456A>G
c.947A>G
c.3801A>G
c.4816A>G (p.Arg1606Gly)
c.2925A>G
n.1746A>G
n.106A>G
n.94A>G
c.4873A>G (p.Arg1625Gly)
c.4939A>G (p.Arg1647Gly)
c.4921A>G (p.Arg1641Gly)
12g.6581077T>GCA478509131CHD4c.4837A>C (p.Arg1613=)
c.4876A>C (p.Arg1626=)
c.4951A>C (p.Arg1651=)
c.4802A>C
c.1127A>C
c.*540A>C (n.*540A>C)
c.4900A>C (p.Arg1634=)
c.4849A>C (p.Arg1617=)
c.1411A>C (p.Arg471=)
c.3590A>C
c.809A>C
c.4855A>C (p.Arg1619=)
c.4927A>C (p.Arg1643=)
c.2734A>C (p.Arg912=)
n.2833A>C
c.150A>C
c.*1636A>C (n.*1636A>C)
c.4960A>C (p.Arg1654=)
c.9+6307A>C (n.9+6307A>C)
n.1148A>C
n.4456A>C
c.947A>C
c.3801A>C
c.4816A>C (p.Arg1606=)
c.2925A>C
n.1746A>C
n.106A>C
n.94A>C
c.4873A>C (p.Arg1625=)
c.4939A>C (p.Arg1647=)
c.4921A>C (p.Arg1641=)
12g.6581078C>ACA383570074CHD4c.4836G>T (p.Glu1612Asp)
c.4875G>T (p.Glu1625Asp)
c.4950G>T (p.Glu1650Asp)
c.4801G>T
c.1126G>T
c.*539G>T (n.*539G>T)
c.4899G>T (p.Glu1633Asp)
c.4848G>T (p.Glu1616Asp)
c.1410G>T (p.Glu470Asp)
c.3589G>T
c.808G>T
c.4854G>T (p.Glu1618Asp)
c.4926G>T (p.Glu1642Asp)
c.2733G>T (p.Glu911Asp)
n.2832G>T
c.149G>T
c.*1635G>T (n.*1635G>T)
c.4959G>T (p.Glu1653Asp)
c.9+6306G>T (n.9+6306G>T)
n.1147G>T
n.4455G>T
c.946G>T
c.3800G>T
c.4815G>T (p.Glu1605Asp)
c.2924G>T
n.1745G>T
n.105G>T
n.93G>T
c.4872G>T (p.Glu1624Asp)
c.4938G>T (p.Glu1646Asp)
c.4920G>T (p.Glu1640Asp)
 gnomAD v4
12g.6581078C>GCA383570079CHD4c.4836G>C (p.Glu1612Asp)
c.4875G>C (p.Glu1625Asp)
c.4950G>C (p.Glu1650Asp)
c.4801G>C
c.1126G>C
c.*539G>C (n.*539G>C)
c.4899G>C (p.Glu1633Asp)
c.4848G>C (p.Glu1616Asp)
c.1410G>C (p.Glu470Asp)
c.3589G>C
c.808G>C
c.4854G>C (p.Glu1618Asp)
c.4926G>C (p.Glu1642Asp)
c.2733G>C (p.Glu911Asp)
n.2832G>C
c.149G>C
c.*1635G>C (n.*1635G>C)
c.4959G>C (p.Glu1653Asp)
c.9+6306G>C (n.9+6306G>C)
n.1147G>C
n.4455G>C
c.946G>C
c.3800G>C
c.4815G>C (p.Glu1605Asp)
c.2924G>C
n.1745G>C
n.105G>C
n.93G>C
c.4872G>C (p.Glu1624Asp)
c.4938G>C (p.Glu1646Asp)
c.4920G>C (p.Glu1640Asp)
12g.6581078C>TCA478509132CHD4c.4836G>A (p.Glu1612=)
c.4875G>A (p.Glu1625=)
c.4950G>A (p.Glu1650=)
c.4801G>A
c.1126G>A
c.*539G>A (n.*539G>A)
c.4899G>A (p.Glu1633=)
c.4848G>A (p.Glu1616=)
c.1410G>A (p.Glu470=)
c.3589G>A
c.808G>A
c.4854G>A (p.Glu1618=)
c.4926G>A (p.Glu1642=)
c.2733G>A (p.Glu911=)
n.2832G>A
c.149G>A
c.*1635G>A (n.*1635G>A)
c.4959G>A (p.Glu1653=)
c.9+6306G>A (n.9+6306G>A)
n.1147G>A
n.4455G>A
c.946G>A
c.3800G>A
c.4815G>A (p.Glu1605=)
c.2924G>A
n.1745G>A
n.105G>A
n.93G>A
c.4872G>A (p.Glu1624=)
c.4938G>A (p.Glu1646=)
c.4920G>A (p.Glu1640=)
 gnomAD v4
12g.6581079T>ACA383570081CHD4c.4835A>T (p.Glu1612Val)
c.4874A>T (p.Glu1625Val)
c.4949A>T (p.Glu1650Val)
c.4800A>T
c.1125A>T
c.*538A>T (n.*538A>T)
c.4898A>T (p.Glu1633Val)
c.4847A>T (p.Glu1616Val)
c.1409A>T (p.Glu470Val)
c.3588A>T
c.807A>T
c.4853A>T (p.Glu1618Val)
c.4925A>T (p.Glu1642Val)
c.2732A>T (p.Glu911Val)
n.2831A>T
c.148A>T
c.*1634A>T (n.*1634A>T)
c.4958A>T (p.Glu1653Val)
c.9+6305A>T (n.9+6305A>T)
n.1146A>T
n.4454A>T
c.945A>T
c.3799A>T
c.4814A>T (p.Glu1605Val)
c.2923A>T
n.1744A>T
n.104A>T
n.92A>T
c.4871A>T (p.Glu1624Val)
c.4937A>T (p.Glu1646Val)
c.4919A>T (p.Glu1640Val)
12g.6581079T>CCA383570082CHD4c.4835A>G (p.Glu1612Gly)
c.4874A>G (p.Glu1625Gly)
c.4949A>G (p.Glu1650Gly)
c.4800A>G
c.1125A>G
c.*538A>G (n.*538A>G)
c.4898A>G (p.Glu1633Gly)
c.4847A>G (p.Glu1616Gly)
c.1409A>G (p.Glu470Gly)
c.3588A>G
c.807A>G
c.4853A>G (p.Glu1618Gly)
c.4925A>G (p.Glu1642Gly)
c.2732A>G (p.Glu911Gly)
n.2831A>G
c.148A>G
c.*1634A>G (n.*1634A>G)
c.4958A>G (p.Glu1653Gly)
c.9+6305A>G (n.9+6305A>G)
n.1146A>G
n.4454A>G
c.945A>G
c.3799A>G
c.4814A>G (p.Glu1605Gly)
c.2923A>G
n.1744A>G
n.104A>G
n.92A>G
c.4871A>G (p.Glu1624Gly)
c.4937A>G (p.Glu1646Gly)
c.4919A>G (p.Glu1640Gly)
 dbSNP gnomAD v2 gnomAD v4
12g.6581079T>GCA383570085CHD4c.4835A>C (p.Glu1612Ala)
c.4874A>C (p.Glu1625Ala)
c.4949A>C (p.Glu1650Ala)
c.4800A>C
c.1125A>C
c.*538A>C (n.*538A>C)
c.4898A>C (p.Glu1633Ala)
c.4847A>C (p.Glu1616Ala)
c.1409A>C (p.Glu470Ala)
c.3588A>C
c.807A>C
c.4853A>C (p.Glu1618Ala)
c.4925A>C (p.Glu1642Ala)
c.2732A>C (p.Glu911Ala)
n.2831A>C
c.148A>C
c.*1634A>C (n.*1634A>C)
c.4958A>C (p.Glu1653Ala)
c.9+6305A>C (n.9+6305A>C)
n.1146A>C
n.4454A>C
c.945A>C
c.3799A>C
c.4814A>C (p.Glu1605Ala)
c.2923A>C
n.1744A>C
n.104A>C
n.92A>C
c.4871A>C (p.Glu1624Ala)
c.4937A>C (p.Glu1646Ala)
c.4919A>C (p.Glu1640Ala)
12g.6581079T=CA2014144939CHD4c.4835A= (p.Glu1612=)
c.4874A= (p.Glu1625=)
c.4949A= (p.Glu1650=)
c.4800A=
c.1125A=
c.*538A= (n.*538A=)
c.4898A= (p.Glu1633=)
c.4847A= (p.Glu1616=)
c.1409A= (p.Glu470=)
c.3588A=
c.807A=
c.4853A= (p.Glu1618=)
c.4925A= (p.Glu1642=)
c.2732A= (p.Glu911=)
n.2831A=
c.148A=
c.*1634A= (n.*1634A=)
c.4958A= (p.Glu1653=)
c.9+6305A= (n.9+6305A=)
n.1146A=
n.4454A=
c.945A=
c.3799A=
c.4814A= (p.Glu1605=)
c.2923A=
n.1744A=
n.104A=
n.92A=
c.4871A= (p.Glu1624=)
c.4937A= (p.Glu1646=)
c.4919A= (p.Glu1640=)
12g.6581080C>ACA383570087CHD4c.4834G>T (p.Glu1612Ter)
c.4873G>T (p.Glu1625Ter)
c.4948G>T (p.Glu1650Ter)
c.4799G>T
c.1124G>T
c.*537G>T (n.*537G>T)
c.4897G>T (p.Glu1633Ter)
c.4846G>T (p.Glu1616Ter)
c.1408G>T (p.Glu470Ter)
c.3587G>T
c.806G>T
c.4852G>T (p.Glu1618Ter)
c.4924G>T (p.Glu1642Ter)
c.2731G>T (p.Glu911Ter)
n.2830G>T
c.147G>T
c.*1633G>T (n.*1633G>T)
c.4957G>T (p.Glu1653Ter)
c.9+6304G>T (n.9+6304G>T)
n.1145G>T
n.4453G>T
c.944G>T
c.3798G>T
c.4813G>T (p.Glu1605Ter)
c.2922G>T
n.1743G>T
n.103G>T
n.91G>T
c.4870G>T (p.Glu1624Ter)
c.4936G>T (p.Glu1646Ter)
c.4918G>T (p.Glu1640Ter)
12g.6581080C=CA2014144940CHD4c.4834G= (p.Glu1612=)
c.4873G= (p.Glu1625=)
c.4948G= (p.Glu1650=)
c.4799G=
c.1124G=
c.*537G= (n.*537G=)
c.4897G= (p.Glu1633=)
c.4846G= (p.Glu1616=)
c.1408G= (p.Glu470=)
c.3587G=
c.806G=
c.4852G= (p.Glu1618=)
c.4924G= (p.Glu1642=)
c.2731G= (p.Glu911=)
n.2830G=
c.147G=
c.*1633G= (n.*1633G=)
c.4957G= (p.Glu1653=)
c.9+6304G= (n.9+6304G=)
n.1145G=
n.4453G=
c.944G=
c.3798G=
c.4813G= (p.Glu1605=)
c.2922G=
n.1743G=
n.103G=
n.91G=
c.4870G= (p.Glu1624=)
c.4936G= (p.Glu1646=)
c.4918G= (p.Glu1640=)
12g.6581080C>GCA383570088CHD4c.4834G>C (p.Glu1612Gln)
c.4873G>C (p.Glu1625Gln)
c.4948G>C (p.Glu1650Gln)
c.4799G>C
c.1124G>C
c.*537G>C (n.*537G>C)
c.4897G>C (p.Glu1633Gln)
c.4846G>C (p.Glu1616Gln)
c.1408G>C (p.Glu470Gln)
c.3587G>C
c.806G>C
c.4852G>C (p.Glu1618Gln)
c.4924G>C (p.Glu1642Gln)
c.2731G>C (p.Glu911Gln)
n.2830G>C
c.147G>C
c.*1633G>C (n.*1633G>C)
c.4957G>C (p.Glu1653Gln)
c.9+6304G>C (n.9+6304G>C)
n.1145G>C
n.4453G>C
c.944G>C
c.3798G>C
c.4813G>C (p.Glu1605Gln)
c.2922G>C
n.1743G>C
n.103G>C
n.91G>C
c.4870G>C (p.Glu1624Gln)
c.4936G>C (p.Glu1646Gln)
c.4918G>C (p.Glu1640Gln)
12g.6581080C>TCA6411410CHD4c.4834G>A (p.Glu1612Lys)
c.4873G>A (p.Glu1625Lys)
c.4948G>A (p.Glu1650Lys)
c.4799G>A
c.1124G>A
c.*537G>A (n.*537G>A)
c.4897G>A (p.Glu1633Lys)
c.4846G>A (p.Glu1616Lys)
c.1408G>A (p.Glu470Lys)
c.3587G>A
c.806G>A
c.4852G>A (p.Glu1618Lys)
c.4924G>A (p.Glu1642Lys)
c.2731G>A (p.Glu911Lys)
n.2830G>A
c.147G>A
c.*1633G>A (n.*1633G>A)
c.4957G>A (p.Glu1653Lys)
c.9+6304G>A (n.9+6304G>A)
n.1145G>A
n.4453G>A
c.944G>A
c.3798G>A
c.4813G>A (p.Glu1605Lys)
c.2922G>A
n.1743G>A
n.103G>A
n.91G>A
c.4870G>A (p.Glu1624Lys)
c.4936G>A (p.Glu1646Lys)
c.4918G>A (p.Glu1640Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6581080_6581083delinsCCTTCA2014144941CHD4c.4831_4834delinsAAGG (p.Lys1611=)
c.4870_4873delinsAAGG (p.Lys1624=)
c.4945_4948delinsAAGG (p.Lys1649=)
c.4796_4799delinsAAGG
c.1121_1124delinsAAGG
c.*534_*537delinsAAGG (n.*534_*537delinsAAGG)
c.4894_4897delinsAAGG (p.Lys1632=)
c.4843_4846delinsAAGG (p.Lys1615=)
c.1405_1408delinsAAGG (p.Lys469=)
c.3584_3587delinsAAGG
c.803_806delinsAAGG
c.4849_4852delinsAAGG (p.Lys1617=)
c.4921_4924delinsAAGG (p.Lys1641=)
c.2728_2731delinsAAGG (p.Lys910=)
n.2827_2830delinsAAGG
c.144_147delinsAAGG
c.*1630_*1633delinsAAGG (n.*1630_*1633delinsAAGG)
c.4954_4957delinsAAGG (p.Lys1652=)
c.9+6301_9+6304delinsAAGG (n.9+6301_9+6304delinsAAGG)
n.1142_1145delinsAAGG
n.4450_4453delinsAAGG
c.941_944delinsAAGG
c.3795_3798delinsAAGG
c.4810_4813delinsAAGG (p.Lys1604=)
c.2919_2922delinsAAGG
n.1740_1743delinsAAGG
n.100_103delinsAAGG
n.88_91delinsAAGG
c.4867_4870delinsAAGG (p.Lys1623=)
c.4933_4936delinsAAGG (p.Lys1645=)
c.4915_4918delinsAAGG (p.Lys1639=)
12g.6581081C>ACA383570094CHD4c.4833G>T (p.Lys1611Asn)
c.4872G>T (p.Lys1624Asn)
c.4947G>T (p.Lys1649Asn)
c.4798G>T
c.1123G>T
c.*536G>T (n.*536G>T)
c.4896G>T (p.Lys1632Asn)
c.4845G>T (p.Lys1615Asn)
c.1407G>T (p.Lys469Asn)
c.3586G>T
c.805G>T
c.4851G>T (p.Lys1617Asn)
c.4923G>T (p.Lys1641Asn)
c.2730G>T (p.Lys910Asn)
n.2829G>T
c.146G>T
c.*1632G>T (n.*1632G>T)
c.4956G>T (p.Lys1652Asn)
c.9+6303G>T (n.9+6303G>T)
n.1144G>T
n.4452G>T
c.943G>T
c.3797G>T
c.4812G>T (p.Lys1604Asn)
c.2921G>T
n.1742G>T
n.102G>T
n.90G>T
c.4869G>T (p.Lys1623Asn)
c.4935G>T (p.Lys1645Asn)
c.4917G>T (p.Lys1639Asn)
12g.6581081C=CA2014144942CHD4c.4833G= (p.Lys1611=)
c.4872G= (p.Lys1624=)
c.4947G= (p.Lys1649=)
c.4798G=
c.1123G=
c.*536G= (n.*536G=)
c.4896G= (p.Lys1632=)
c.4845G= (p.Lys1615=)
c.1407G= (p.Lys469=)
c.3586G=
c.805G=
c.4851G= (p.Lys1617=)
c.4923G= (p.Lys1641=)
c.2730G= (p.Lys910=)
n.2829G=
c.146G=
c.*1632G= (n.*1632G=)
c.4956G= (p.Lys1652=)
c.9+6303G= (n.9+6303G=)
n.1144G=
n.4452G=
c.943G=
c.3797G=
c.4812G= (p.Lys1604=)
c.2921G=
n.1742G=
n.102G=
n.90G=
c.4869G= (p.Lys1623=)
c.4935G= (p.Lys1645=)
c.4917G= (p.Lys1639=)
12g.6581081C>GCA383570089CHD4c.4833G>C (p.Lys1611Asn)
c.4872G>C (p.Lys1624Asn)
c.4947G>C (p.Lys1649Asn)
c.4798G>C
c.1123G>C
c.*536G>C (n.*536G>C)
c.4896G>C (p.Lys1632Asn)
c.4845G>C (p.Lys1615Asn)
c.1407G>C (p.Lys469Asn)
c.3586G>C
c.805G>C
c.4851G>C (p.Lys1617Asn)
c.4923G>C (p.Lys1641Asn)
c.2730G>C (p.Lys910Asn)
n.2829G>C
c.146G>C
c.*1632G>C (n.*1632G>C)
c.4956G>C (p.Lys1652Asn)
c.9+6303G>C (n.9+6303G>C)
n.1144G>C
n.4452G>C
c.943G>C
c.3797G>C
c.4812G>C (p.Lys1604Asn)
c.2921G>C
n.1742G>C
n.102G>C
n.90G>C
c.4869G>C (p.Lys1623Asn)
c.4935G>C (p.Lys1645Asn)
c.4917G>C (p.Lys1639Asn)
12g.6581081C>TCA478509133CHD4c.4833G>A (p.Lys1611=)
c.4872G>A (p.Lys1624=)
c.4947G>A (p.Lys1649=)
c.4798G>A
c.1123G>A
c.*536G>A (n.*536G>A)
c.4896G>A (p.Lys1632=)
c.4845G>A (p.Lys1615=)
c.1407G>A (p.Lys469=)
c.3586G>A
c.805G>A
c.4851G>A (p.Lys1617=)
c.4923G>A (p.Lys1641=)
c.2730G>A (p.Lys910=)
n.2829G>A
c.146G>A
c.*1632G>A (n.*1632G>A)
c.4956G>A (p.Lys1652=)
c.9+6303G>A (n.9+6303G>A)
n.1144G>A
n.4452G>A
c.943G>A
c.3797G>A
c.4812G>A (p.Lys1604=)
c.2921G>A
n.1742G>A
n.102G>A
n.90G>A
c.4869G>A (p.Lys1623=)
c.4935G>A (p.Lys1645=)
c.4917G>A (p.Lys1639=)
 dbSNP
12g.6581082_6581084delCA690976370CHD4c.4831_4833del (p.Lys1611del)
c.4870_4872del (p.Lys1624del)
c.4945_4947del (p.Lys1649del)
c.4796_4798del
c.1121_1123del
c.*534_*536del (n.*534_*536del)
c.4894_4896del (p.Lys1632del)
c.4843_4845del (p.Lys1615del)
c.1405_1407del (p.Lys469del)
c.3584_3586del
c.803_805del
c.4849_4851del (p.Lys1617del)
c.4921_4923del (p.Lys1641del)
c.2728_2730del (p.Lys910del)
n.2827_2829del
c.144_146del
c.*1630_*1632del (n.*1630_*1632del)
c.4954_4956del (p.Lys1652del)
c.9+6301_9+6303del (n.9+6301_9+6303del)
n.1142_1144del
n.4450_4452del
c.941_943del
c.3795_3797del
c.4810_4812del (p.Lys1604del)
c.2919_2921del
n.1740_1742del
n.100_102del
n.88_90del
c.4867_4869del (p.Lys1623del)
c.4933_4935del (p.Lys1645del)
c.4915_4917del (p.Lys1639del)
 dbSNP gnomAD v3 gnomAD v4
12g.6581082T>ACA383570097CHD4c.4832A>T (p.Lys1611Met)
c.4871A>T (p.Lys1624Met)
c.4946A>T (p.Lys1649Met)
c.4797A>T
c.1122A>T
c.*535A>T (n.*535A>T)
c.4895A>T (p.Lys1632Met)
c.4844A>T (p.Lys1615Met)
c.1406A>T (p.Lys469Met)
c.3585A>T
c.804A>T
c.4850A>T (p.Lys1617Met)
c.4922A>T (p.Lys1641Met)
c.2729A>T (p.Lys910Met)
n.2828A>T
c.145A>T
c.*1631A>T (n.*1631A>T)
c.4955A>T (p.Lys1652Met)
c.9+6302A>T (n.9+6302A>T)
n.1143A>T
n.4451A>T
c.942A>T
c.3796A>T
c.4811A>T (p.Lys1604Met)
c.2920A>T
n.1741A>T
n.101A>T
n.89A>T
c.4868A>T (p.Lys1623Met)
c.4934A>T (p.Lys1645Met)
c.4916A>T (p.Lys1639Met)
12g.6581082T>CCA232386633CHD4c.4832A>G (p.Lys1611Arg)
c.4871A>G (p.Lys1624Arg)
c.4946A>G (p.Lys1649Arg)
c.4797A>G
c.1122A>G
c.*535A>G (n.*535A>G)
c.4895A>G (p.Lys1632Arg)
c.4844A>G (p.Lys1615Arg)
c.1406A>G (p.Lys469Arg)
c.3585A>G
c.804A>G
c.4850A>G (p.Lys1617Arg)
c.4922A>G (p.Lys1641Arg)
c.2729A>G (p.Lys910Arg)
n.2828A>G
c.145A>G
c.*1631A>G (n.*1631A>G)
c.4955A>G (p.Lys1652Arg)
c.9+6302A>G (n.9+6302A>G)
n.1143A>G
n.4451A>G
c.942A>G
c.3796A>G
c.4811A>G (p.Lys1604Arg)
c.2920A>G
n.1741A>G
n.101A>G
n.89A>G
c.4868A>G (p.Lys1623Arg)
c.4934A>G (p.Lys1645Arg)
c.4916A>G (p.Lys1639Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6581082T>GCA383570101CHD4c.4832A>C (p.Lys1611Thr)
c.4871A>C (p.Lys1624Thr)
c.4946A>C (p.Lys1649Thr)
c.4797A>C
c.1122A>C
c.*535A>C (n.*535A>C)
c.4895A>C (p.Lys1632Thr)
c.4844A>C (p.Lys1615Thr)
c.1406A>C (p.Lys469Thr)
c.3585A>C
c.804A>C
c.4850A>C (p.Lys1617Thr)
c.4922A>C (p.Lys1641Thr)
c.2729A>C (p.Lys910Thr)
n.2828A>C
c.145A>C
c.*1631A>C (n.*1631A>C)
c.4955A>C (p.Lys1652Thr)
c.9+6302A>C (n.9+6302A>C)
n.1143A>C
n.4451A>C
c.942A>C
c.3796A>C
c.4811A>C (p.Lys1604Thr)
c.2920A>C
n.1741A>C
n.101A>C
n.89A>C
c.4868A>C (p.Lys1623Thr)
c.4934A>C (p.Lys1645Thr)
c.4916A>C (p.Lys1639Thr)
12g.6581082T=CA2014144943CHD4c.4832A= (p.Lys1611=)
c.4871A= (p.Lys1624=)
c.4946A= (p.Lys1649=)
c.4797A=
c.1122A=
c.*535A= (n.*535A=)
c.4895A= (p.Lys1632=)
c.4844A= (p.Lys1615=)
c.1406A= (p.Lys469=)
c.3585A=
c.804A=
c.4850A= (p.Lys1617=)
c.4922A= (p.Lys1641=)
c.2729A= (p.Lys910=)
n.2828A=
c.145A=
c.*1631A= (n.*1631A=)
c.4955A= (p.Lys1652=)
c.9+6302A= (n.9+6302A=)
n.1143A=
n.4451A=
c.942A=
c.3796A=
c.4811A= (p.Lys1604=)
c.2920A=
n.1741A=
n.101A=
n.89A=
c.4868A= (p.Lys1623=)
c.4934A= (p.Lys1645=)
c.4916A= (p.Lys1639=)
12g.6581083T>ACA383570105CHD4c.4831A>T (p.Lys1611Ter)
c.4870A>T (p.Lys1624Ter)
c.4945A>T (p.Lys1649Ter)
c.4796A>T
c.1121A>T
c.*534A>T (n.*534A>T)
c.4894A>T (p.Lys1632Ter)
c.4843A>T (p.Lys1615Ter)
c.1405A>T (p.Lys469Ter)
c.3584A>T
c.803A>T
c.4849A>T (p.Lys1617Ter)
c.4921A>T (p.Lys1641Ter)
c.2728A>T (p.Lys910Ter)
n.2827A>T
c.144A>T
c.*1630A>T (n.*1630A>T)
c.4954A>T (p.Lys1652Ter)
c.9+6301A>T (n.9+6301A>T)
n.1142A>T
n.4450A>T
c.941A>T
c.3795A>T
c.4810A>T (p.Lys1604Ter)
c.2919A>T
n.1740A>T
n.100A>T
n.88A>T
c.4867A>T (p.Lys1623Ter)
c.4933A>T (p.Lys1645Ter)
c.4915A>T (p.Lys1639Ter)
12g.6581083T>CCA383570107CHD4c.4831A>G (p.Lys1611Glu)
c.4870A>G (p.Lys1624Glu)
c.4945A>G (p.Lys1649Glu)
c.4796A>G
c.1121A>G
c.*534A>G (n.*534A>G)
c.4894A>G (p.Lys1632Glu)
c.4843A>G (p.Lys1615Glu)
c.1405A>G (p.Lys469Glu)
c.3584A>G
c.803A>G
c.4849A>G (p.Lys1617Glu)
c.4921A>G (p.Lys1641Glu)
c.2728A>G (p.Lys910Glu)
n.2827A>G
c.144A>G
c.*1630A>G (n.*1630A>G)
c.4954A>G (p.Lys1652Glu)
c.9+6301A>G (n.9+6301A>G)
n.1142A>G
n.4450A>G
c.941A>G
c.3795A>G
c.4810A>G (p.Lys1604Glu)
c.2919A>G
n.1740A>G
n.100A>G
n.88A>G
c.4867A>G (p.Lys1623Glu)
c.4933A>G (p.Lys1645Glu)
c.4915A>G (p.Lys1639Glu)
12g.6581083T>GCA383570109CHD4c.4831A>C (p.Lys1611Gln)
c.4870A>C (p.Lys1624Gln)
c.4945A>C (p.Lys1649Gln)
c.4796A>C
c.1121A>C
c.*534A>C (n.*534A>C)
c.4894A>C (p.Lys1632Gln)
c.4843A>C (p.Lys1615Gln)
c.1405A>C (p.Lys469Gln)
c.3584A>C
c.803A>C
c.4849A>C (p.Lys1617Gln)
c.4921A>C (p.Lys1641Gln)
c.2728A>C (p.Lys910Gln)
n.2827A>C
c.144A>C
c.*1630A>C (n.*1630A>C)
c.4954A>C (p.Lys1652Gln)
c.9+6301A>C (n.9+6301A>C)
n.1142A>C
n.4450A>C
c.941A>C
c.3795A>C
c.4810A>C (p.Lys1604Gln)
c.2919A>C
n.1740A>C
n.100A>C
n.88A>C
c.4867A>C (p.Lys1623Gln)
c.4933A>C (p.Lys1645Gln)
c.4915A>C (p.Lys1639Gln)
12g.6581084C>ACA478509134CHD4c.4830G>T (p.Val1610=)
c.4869G>T (p.Val1623=)
c.4944G>T (p.Val1648=)
c.4795G>T
c.1120G>T
c.*533G>T (n.*533G>T)
c.4893G>T (p.Val1631=)
c.4842G>T (p.Val1614=)
c.1404G>T (p.Val468=)
c.3583G>T
c.802G>T
c.4848G>T (p.Val1616=)
c.4920G>T (p.Val1640=)
c.2727G>T (p.Val909=)
n.2826G>T
c.143G>T
c.*1629G>T (n.*1629G>T)
c.4953G>T (p.Val1651=)
c.9+6300G>T (n.9+6300G>T)
n.1141G>T
n.4449G>T
c.940G>T
c.3794G>T
c.4809G>T (p.Val1603=)
c.2918G>T
n.1739G>T
n.99G>T
n.87G>T
c.4866G>T (p.Val1622=)
c.4932G>T (p.Val1644=)
c.4914G>T (p.Val1638=)
12g.6581084C>GCA478509135CHD4c.4830G>C (p.Val1610=)
c.4869G>C (p.Val1623=)
c.4944G>C (p.Val1648=)
c.4795G>C
c.1120G>C
c.*533G>C (n.*533G>C)
c.4893G>C (p.Val1631=)
c.4842G>C (p.Val1614=)
c.1404G>C (p.Val468=)
c.3583G>C
c.802G>C
c.4848G>C (p.Val1616=)
c.4920G>C (p.Val1640=)
c.2727G>C (p.Val909=)
n.2826G>C
c.143G>C
c.*1629G>C (n.*1629G>C)
c.4953G>C (p.Val1651=)
c.9+6300G>C (n.9+6300G>C)
n.1141G>C
n.4449G>C
c.940G>C
c.3794G>C
c.4809G>C (p.Val1603=)
c.2918G>C
n.1739G>C
n.99G>C
n.87G>C
c.4866G>C (p.Val1622=)
c.4932G>C (p.Val1644=)
c.4914G>C (p.Val1638=)
 COSMIC COSMIC COSMIC
12g.6581084C>TCA478509136CHD4c.4830G>A (p.Val1610=)
c.4869G>A (p.Val1623=)
c.4944G>A (p.Val1648=)
c.4795G>A
c.1120G>A
c.*533G>A (n.*533G>A)
c.4893G>A (p.Val1631=)
c.4842G>A (p.Val1614=)
c.1404G>A (p.Val468=)
c.3583G>A
c.802G>A
c.4848G>A (p.Val1616=)
c.4920G>A (p.Val1640=)
c.2727G>A (p.Val909=)
n.2826G>A
c.143G>A
c.*1629G>A (n.*1629G>A)
c.4953G>A (p.Val1651=)
c.9+6300G>A (n.9+6300G>A)
n.1141G>A
n.4449G>A
c.940G>A
c.3794G>A
c.4809G>A (p.Val1603=)
c.2918G>A
n.1739G>A
n.99G>A
n.87G>A
c.4866G>A (p.Val1622=)
c.4932G>A (p.Val1644=)
c.4914G>A (p.Val1638=)
12g.6581085A=CA2014144944CHD4c.4829T= (p.Val1610=)
c.4868T= (p.Val1623=)
c.4943T= (p.Val1648=)
c.4794T=
c.1119T=
c.*532T= (n.*532T=)
c.4892T= (p.Val1631=)
c.4841T= (p.Val1614=)
c.1403T= (p.Val468=)
c.3582T=
c.801T=
c.4847T= (p.Val1616=)
c.4919T= (p.Val1640=)
c.2726T= (p.Val909=)
n.2825T=
c.142T=
c.*1628T= (n.*1628T=)
c.4952T= (p.Val1651=)
c.9+6299T= (n.9+6299T=)
n.1140T=
n.4448T=
c.939T=
c.3793T=
c.4808T= (p.Val1603=)
c.2917T=
n.1738T=
n.98T=
n.86T=
c.4865T= (p.Val1622=)
c.4931T= (p.Val1644=)
c.4913T= (p.Val1638=)
12g.6581085A>CCA383570112CHD4c.4829T>G (p.Val1610Gly)
c.4868T>G (p.Val1623Gly)
c.4943T>G (p.Val1648Gly)
c.4794T>G
c.1119T>G
c.*532T>G (n.*532T>G)
c.4892T>G (p.Val1631Gly)
c.4841T>G (p.Val1614Gly)
c.1403T>G (p.Val468Gly)
c.3582T>G
c.801T>G
c.4847T>G (p.Val1616Gly)
c.4919T>G (p.Val1640Gly)
c.2726T>G (p.Val909Gly)
n.2825T>G
c.142T>G
c.*1628T>G (n.*1628T>G)
c.4952T>G (p.Val1651Gly)
c.9+6299T>G (n.9+6299T>G)
n.1140T>G
n.4448T>G
c.939T>G
c.3793T>G
c.4808T>G (p.Val1603Gly)
c.2917T>G
n.1738T>G
n.98T>G
n.86T>G
c.4865T>G (p.Val1622Gly)
c.4931T>G (p.Val1644Gly)
c.4913T>G (p.Val1638Gly)
 dbSNP
12g.6581085A>GCA383570117CHD4c.4829T>C (p.Val1610Ala)
c.4868T>C (p.Val1623Ala)
c.4943T>C (p.Val1648Ala)
c.4794T>C
c.1119T>C
c.*532T>C (n.*532T>C)
c.4892T>C (p.Val1631Ala)
c.4841T>C (p.Val1614Ala)
c.1403T>C (p.Val468Ala)
c.3582T>C
c.801T>C
c.4847T>C (p.Val1616Ala)
c.4919T>C (p.Val1640Ala)
c.2726T>C (p.Val909Ala)
n.2825T>C
c.142T>C
c.*1628T>C (n.*1628T>C)
c.4952T>C (p.Val1651Ala)
c.9+6299T>C (n.9+6299T>C)
n.1140T>C
n.4448T>C
c.939T>C
c.3793T>C
c.4808T>C (p.Val1603Ala)
c.2917T>C
n.1738T>C
n.98T>C
n.86T>C
c.4865T>C (p.Val1622Ala)
c.4931T>C (p.Val1644Ala)
c.4913T>C (p.Val1638Ala)
12g.6581085A>TCA383570119CHD4c.4829T>A (p.Val1610Glu)
c.4868T>A (p.Val1623Glu)
c.4943T>A (p.Val1648Glu)
c.4794T>A
c.1119T>A
c.*532T>A (n.*532T>A)
c.4892T>A (p.Val1631Glu)
c.4841T>A (p.Val1614Glu)
c.1403T>A (p.Val468Glu)
c.3582T>A
c.801T>A
c.4847T>A (p.Val1616Glu)
c.4919T>A (p.Val1640Glu)
c.2726T>A (p.Val909Glu)
n.2825T>A
c.142T>A
c.*1628T>A (n.*1628T>A)
c.4952T>A (p.Val1651Glu)
c.9+6299T>A (n.9+6299T>A)
n.1140T>A
n.4448T>A
c.939T>A
c.3793T>A
c.4808T>A (p.Val1603Glu)
c.2917T>A
n.1738T>A
n.98T>A
n.86T>A
c.4865T>A (p.Val1622Glu)
c.4931T>A (p.Val1644Glu)
c.4913T>A (p.Val1638Glu)
12g.6581086C>ACA383570121CHD4c.4828G>T (p.Val1610Leu)
c.4867G>T (p.Val1623Leu)
c.4942G>T (p.Val1648Leu)
c.4793G>T
c.1118G>T
c.*531G>T (n.*531G>T)
c.4891G>T (p.Val1631Leu)
c.4840G>T (p.Val1614Leu)
c.1402G>T (p.Val468Leu)
c.3581G>T
c.800G>T
c.4846G>T (p.Val1616Leu)
c.4918G>T (p.Val1640Leu)
c.2725G>T (p.Val909Leu)
n.2824G>T
c.141G>T
c.*1627G>T (n.*1627G>T)
c.4951G>T (p.Val1651Leu)
c.9+6298G>T (n.9+6298G>T)
n.1139G>T
n.4447G>T
c.938G>T
c.3792G>T
c.4807G>T (p.Val1603Leu)
c.2916G>T
n.1737G>T
n.97G>T
n.85G>T
c.4864G>T (p.Val1622Leu)
c.4930G>T (p.Val1644Leu)
c.4912G>T (p.Val1638Leu)
12g.6581086C=CA2014144945CHD4c.4828G= (p.Val1610=)
c.4867G= (p.Val1623=)
c.4942G= (p.Val1648=)
c.4793G=
c.1118G=
c.*531G= (n.*531G=)
c.4891G= (p.Val1631=)
c.4840G= (p.Val1614=)
c.1402G= (p.Val468=)
c.3581G=
c.800G=
c.4846G= (p.Val1616=)
c.4918G= (p.Val1640=)
c.2725G= (p.Val909=)
n.2824G=
c.141G=
c.*1627G= (n.*1627G=)
c.4951G= (p.Val1651=)
c.9+6298G= (n.9+6298G=)
n.1139G=
n.4447G=
c.938G=
c.3792G=
c.4807G= (p.Val1603=)
c.2916G=
n.1737G=
n.97G=
n.85G=
c.4864G= (p.Val1622=)
c.4930G= (p.Val1644=)
c.4912G= (p.Val1638=)
12g.6581086C>GCA383570123CHD4c.4828G>C (p.Val1610Leu)
c.4867G>C (p.Val1623Leu)
c.4942G>C (p.Val1648Leu)
c.4793G>C
c.1118G>C
c.*531G>C (n.*531G>C)
c.4891G>C (p.Val1631Leu)
c.4840G>C (p.Val1614Leu)
c.1402G>C (p.Val468Leu)
c.3581G>C
c.800G>C
c.4846G>C (p.Val1616Leu)
c.4918G>C (p.Val1640Leu)
c.2725G>C (p.Val909Leu)
n.2824G>C
c.141G>C
c.*1627G>C (n.*1627G>C)
c.4951G>C (p.Val1651Leu)
c.9+6298G>C (n.9+6298G>C)
n.1139G>C
n.4447G>C
c.938G>C
c.3792G>C
c.4807G>C (p.Val1603Leu)
c.2916G>C
n.1737G>C
n.97G>C
n.85G>C
c.4864G>C (p.Val1622Leu)
c.4930G>C (p.Val1644Leu)
c.4912G>C (p.Val1638Leu)
12g.6581086C>TCA383570125CHD4c.4828G>A (p.Val1610Met)
c.4867G>A (p.Val1623Met)
c.4942G>A (p.Val1648Met)
c.4793G>A
c.1118G>A
c.*531G>A (n.*531G>A)
c.4891G>A (p.Val1631Met)
c.4840G>A (p.Val1614Met)
c.1402G>A (p.Val468Met)
c.3581G>A
c.800G>A
c.4846G>A (p.Val1616Met)
c.4918G>A (p.Val1640Met)
c.2725G>A (p.Val909Met)
n.2824G>A
c.141G>A
c.*1627G>A (n.*1627G>A)
c.4951G>A (p.Val1651Met)
c.9+6298G>A (n.9+6298G>A)
n.1139G>A
n.4447G>A
c.938G>A
c.3792G>A
c.4807G>A (p.Val1603Met)
c.2916G>A
n.1737G>A
n.97G>A
n.85G>A
c.4864G>A (p.Val1622Met)
c.4930G>A (p.Val1644Met)
c.4912G>A (p.Val1638Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6581087C>ACA383570127CHD4c.4827G>T (p.Glu1609Asp)
c.4866G>T (p.Glu1622Asp)
c.4941G>T (p.Glu1647Asp)
c.4792G>T
c.1117G>T
c.*530G>T (n.*530G>T)
c.4890G>T (p.Glu1630Asp)
c.4839G>T (p.Glu1613Asp)
c.1401G>T (p.Glu467Asp)
c.3580G>T
c.799G>T
c.4845G>T (p.Glu1615Asp)
c.4917G>T (p.Glu1639Asp)
c.2724G>T (p.Glu908Asp)
n.2823G>T
c.140G>T
c.*1626G>T (n.*1626G>T)
c.4950G>T (p.Glu1650Asp)
c.9+6297G>T (n.9+6297G>T)
n.1138G>T
n.4446G>T
c.937G>T
c.3791G>T
c.4806G>T (p.Glu1602Asp)
c.2915G>T
n.1736G>T
n.96G>T
n.84G>T
c.4863G>T (p.Glu1621Asp)
c.4929G>T (p.Glu1643Asp)
c.4911G>T (p.Glu1637Asp)
 COSMIC COSMIC COSMIC
12g.6581087C=CA2014144946CHD4c.4827G= (p.Glu1609=)
c.4866G= (p.Glu1622=)
c.4941G= (p.Glu1647=)
c.4792G=
c.1117G=
c.*530G= (n.*530G=)
c.4890G= (p.Glu1630=)
c.4839G= (p.Glu1613=)
c.1401G= (p.Glu467=)
c.3580G=
c.799G=
c.4845G= (p.Glu1615=)
c.4917G= (p.Glu1639=)
c.2724G= (p.Glu908=)
n.2823G=
c.140G=
c.*1626G= (n.*1626G=)
c.4950G= (p.Glu1650=)
c.9+6297G= (n.9+6297G=)
n.1138G=
n.4446G=
c.937G=
c.3791G=
c.4806G= (p.Glu1602=)
c.2915G=
n.1736G=
n.96G=
n.84G=
c.4863G= (p.Glu1621=)
c.4929G= (p.Glu1643=)
c.4911G= (p.Glu1637=)
12g.6581087C>GCA383570129CHD4c.4827G>C (p.Glu1609Asp)
c.4866G>C (p.Glu1622Asp)
c.4941G>C (p.Glu1647Asp)
c.4792G>C
c.1117G>C
c.*530G>C (n.*530G>C)
c.4890G>C (p.Glu1630Asp)
c.4839G>C (p.Glu1613Asp)
c.1401G>C (p.Glu467Asp)
c.3580G>C
c.799G>C
c.4845G>C (p.Glu1615Asp)
c.4917G>C (p.Glu1639Asp)
c.2724G>C (p.Glu908Asp)
n.2823G>C
c.140G>C
c.*1626G>C (n.*1626G>C)
c.4950G>C (p.Glu1650Asp)
c.9+6297G>C (n.9+6297G>C)
n.1138G>C
n.4446G>C
c.937G>C
c.3791G>C
c.4806G>C (p.Glu1602Asp)
c.2915G>C
n.1736G>C
n.96G>C
n.84G>C
c.4863G>C (p.Glu1621Asp)
c.4929G>C (p.Glu1643Asp)
c.4911G>C (p.Glu1637Asp)
 gnomAD v4
12g.6581087C>TCA478509137CHD4c.4827G>A (p.Glu1609=)
c.4866G>A (p.Glu1622=)
c.4941G>A (p.Glu1647=)
c.4792G>A
c.1117G>A
c.*530G>A (n.*530G>A)
c.4890G>A (p.Glu1630=)
c.4839G>A (p.Glu1613=)
c.1401G>A (p.Glu467=)
c.3580G>A
c.799G>A
c.4845G>A (p.Glu1615=)
c.4917G>A (p.Glu1639=)
c.2724G>A (p.Glu908=)
n.2823G>A
c.140G>A
c.*1626G>A (n.*1626G>A)
c.4950G>A (p.Glu1650=)
c.9+6297G>A (n.9+6297G>A)
n.1138G>A
n.4446G>A
c.937G>A
c.3791G>A
c.4806G>A (p.Glu1602=)
c.2915G>A
n.1736G>A
n.96G>A
n.84G>A
c.4863G>A (p.Glu1621=)
c.4929G>A (p.Glu1643=)
c.4911G>A (p.Glu1637=)
 dbSNP gnomAD v4
12g.6581088T>ACA383570133CHD4c.4826A>T (p.Glu1609Val)
c.4865A>T (p.Glu1622Val)
c.4940A>T (p.Glu1647Val)
c.4791A>T
c.1116A>T
c.*529A>T (n.*529A>T)
c.4889A>T (p.Glu1630Val)
c.4838A>T (p.Glu1613Val)
c.1400A>T (p.Glu467Val)
c.3579A>T
c.798A>T
c.4844A>T (p.Glu1615Val)
c.4916A>T (p.Glu1639Val)
c.2723A>T (p.Glu908Val)
n.2822A>T
c.139A>T
c.*1625A>T (n.*1625A>T)
c.4949A>T (p.Glu1650Val)
c.9+6296A>T (n.9+6296A>T)
n.1137A>T
n.4445A>T
c.936A>T
c.3790A>T
c.4805A>T (p.Glu1602Val)
c.2914A>T
n.1735A>T
n.95A>T
n.83A>T
c.4862A>T (p.Glu1621Val)
c.4928A>T (p.Glu1643Val)
c.4910A>T (p.Glu1637Val)
12g.6581088T>CCA383570135CHD4c.4826A>G (p.Glu1609Gly)
c.4865A>G (p.Glu1622Gly)
c.4940A>G (p.Glu1647Gly)
c.4791A>G
c.1116A>G
c.*529A>G (n.*529A>G)
c.4889A>G (p.Glu1630Gly)
c.4838A>G (p.Glu1613Gly)
c.1400A>G (p.Glu467Gly)
c.3579A>G
c.798A>G
c.4844A>G (p.Glu1615Gly)
c.4916A>G (p.Glu1639Gly)
c.2723A>G (p.Glu908Gly)
n.2822A>G
c.139A>G
c.*1625A>G (n.*1625A>G)
c.4949A>G (p.Glu1650Gly)
c.9+6296A>G (n.9+6296A>G)
n.1137A>G
n.4445A>G
c.936A>G
c.3790A>G
c.4805A>G (p.Glu1602Gly)
c.2914A>G
n.1735A>G
n.95A>G
n.83A>G
c.4862A>G (p.Glu1621Gly)
c.4928A>G (p.Glu1643Gly)
c.4910A>G (p.Glu1637Gly)
12g.6581088T>GCA383570131CHD4c.4826A>C (p.Glu1609Ala)
c.4865A>C (p.Glu1622Ala)
c.4940A>C (p.Glu1647Ala)
c.4791A>C
c.1116A>C
c.*529A>C (n.*529A>C)
c.4889A>C (p.Glu1630Ala)
c.4838A>C (p.Glu1613Ala)
c.1400A>C (p.Glu467Ala)
c.3579A>C
c.798A>C
c.4844A>C (p.Glu1615Ala)
c.4916A>C (p.Glu1639Ala)
c.2723A>C (p.Glu908Ala)
n.2822A>C
c.139A>C
c.*1625A>C (n.*1625A>C)
c.4949A>C (p.Glu1650Ala)
c.9+6296A>C (n.9+6296A>C)
n.1137A>C
n.4445A>C
c.936A>C
c.3790A>C
c.4805A>C (p.Glu1602Ala)
c.2914A>C
n.1735A>C
n.95A>C
n.83A>C
c.4862A>C (p.Glu1621Ala)
c.4928A>C (p.Glu1643Ala)
c.4910A>C (p.Glu1637Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6581088T=CA2014144947CHD4c.4826A= (p.Glu1609=)
c.4865A= (p.Glu1622=)
c.4940A= (p.Glu1647=)
c.4791A=
c.1116A=
c.*529A= (n.*529A=)
c.4889A= (p.Glu1630=)
c.4838A= (p.Glu1613=)
c.1400A= (p.Glu467=)
c.3579A=
c.798A=
c.4844A= (p.Glu1615=)
c.4916A= (p.Glu1639=)
c.2723A= (p.Glu908=)
n.2822A=
c.139A=
c.*1625A= (n.*1625A=)
c.4949A= (p.Glu1650=)
c.9+6296A= (n.9+6296A=)
n.1137A=
n.4445A=
c.936A=
c.3790A=
c.4805A= (p.Glu1602=)
c.2914A=
n.1735A=
n.95A=
n.83A=
c.4862A= (p.Glu1621=)
c.4928A= (p.Glu1643=)
c.4910A= (p.Glu1637=)
12g.6581089C>ACA383570140CHD4c.4825G>T (p.Glu1609Ter)
c.4864G>T (p.Glu1622Ter)
c.4939G>T (p.Glu1647Ter)
c.4790G>T
c.1115G>T
c.*528G>T (n.*528G>T)
c.4888G>T (p.Glu1630Ter)
c.4837G>T (p.Glu1613Ter)
c.1399G>T (p.Glu467Ter)
c.3578G>T
c.797G>T
c.4843G>T (p.Glu1615Ter)
c.4915G>T (p.Glu1639Ter)
c.2722G>T (p.Glu908Ter)
n.2821G>T
c.138G>T
c.*1624G>T (n.*1624G>T)
c.4948G>T (p.Glu1650Ter)
c.9+6295G>T (n.9+6295G>T)
n.1136G>T
n.4444G>T
c.935G>T
c.3789G>T
c.4804G>T (p.Glu1602Ter)
c.2913G>T
n.1734G>T
n.94G>T
n.82G>T
c.4861G>T (p.Glu1621Ter)
c.4927G>T (p.Glu1643Ter)
c.4909G>T (p.Glu1637Ter)
12g.6581089C>GCA383570138CHD4c.4825G>C (p.Glu1609Gln)
c.4864G>C (p.Glu1622Gln)
c.4939G>C (p.Glu1647Gln)
c.4790G>C
c.1115G>C
c.*528G>C (n.*528G>C)
c.4888G>C (p.Glu1630Gln)
c.4837G>C (p.Glu1613Gln)
c.1399G>C (p.Glu467Gln)
c.3578G>C
c.797G>C
c.4843G>C (p.Glu1615Gln)
c.4915G>C (p.Glu1639Gln)
c.2722G>C (p.Glu908Gln)
n.2821G>C
c.138G>C
c.*1624G>C (n.*1624G>C)
c.4948G>C (p.Glu1650Gln)
c.9+6295G>C (n.9+6295G>C)
n.1136G>C
n.4444G>C
c.935G>C
c.3789G>C
c.4804G>C (p.Glu1602Gln)
c.2913G>C
n.1734G>C
n.94G>C
n.82G>C
c.4861G>C (p.Glu1621Gln)
c.4927G>C (p.Glu1643Gln)
c.4909G>C (p.Glu1637Gln)
12g.6581089C>TCA383570142CHD4c.4825G>A (p.Glu1609Lys)
c.4864G>A (p.Glu1622Lys)
c.4939G>A (p.Glu1647Lys)
c.4790G>A
c.1115G>A
c.*528G>A (n.*528G>A)
c.4888G>A (p.Glu1630Lys)
c.4837G>A (p.Glu1613Lys)
c.1399G>A (p.Glu467Lys)
c.3578G>A
c.797G>A
c.4843G>A (p.Glu1615Lys)
c.4915G>A (p.Glu1639Lys)
c.2722G>A (p.Glu908Lys)
n.2821G>A
c.138G>A
c.*1624G>A (n.*1624G>A)
c.4948G>A (p.Glu1650Lys)
c.9+6295G>A (n.9+6295G>A)
n.1136G>A
n.4444G>A
c.935G>A
c.3789G>A
c.4804G>A (p.Glu1602Lys)
c.2913G>A
n.1734G>A
n.94G>A
n.82G>A
c.4861G>A (p.Glu1621Lys)
c.4927G>A (p.Glu1643Lys)
c.4909G>A (p.Glu1637Lys)
 gnomAD v4
12g.6581090T>ACA478509138CHD4c.4824A>T (p.Ala1608=)
c.4863A>T (p.Ala1621=)
c.4938A>T (p.Ala1646=)
c.4789A>T
c.1114A>T
c.*527A>T (n.*527A>T)
c.4887A>T (p.Ala1629=)
c.4836A>T (p.Ala1612=)
c.1398A>T (p.Ala466=)
c.3577A>T
c.796A>T
c.4842A>T (p.Ala1614=)
c.4914A>T (p.Ala1638=)
c.2721A>T (p.Ala907=)
n.2820A>T
c.137A>T
c.*1623A>T (n.*1623A>T)
c.4947A>T (p.Ala1649=)
c.9+6294A>T (n.9+6294A>T)
n.1135A>T
n.4443A>T
c.934A>T
c.3788A>T
c.4803A>T (p.Ala1601=)
c.2912A>T
n.1733A>T
n.93A>T
n.81A>T
c.4860A>T (p.Ala1620=)
c.4926A>T (p.Ala1642=)
c.4908A>T (p.Ala1636=)
12g.6581090T>CCA478509139CHD4c.4824A>G (p.Ala1608=)
c.4863A>G (p.Ala1621=)
c.4938A>G (p.Ala1646=)
c.4789A>G
c.1114A>G
c.*527A>G (n.*527A>G)
c.4887A>G (p.Ala1629=)
c.4836A>G (p.Ala1612=)
c.1398A>G (p.Ala466=)
c.3577A>G
c.796A>G
c.4842A>G (p.Ala1614=)
c.4914A>G (p.Ala1638=)
c.2721A>G (p.Ala907=)
n.2820A>G
c.137A>G
c.*1623A>G (n.*1623A>G)
c.4947A>G (p.Ala1649=)
c.9+6294A>G (n.9+6294A>G)
n.1135A>G
n.4443A>G
c.934A>G
c.3788A>G
c.4803A>G (p.Ala1601=)
c.2912A>G
n.1733A>G
n.93A>G
n.81A>G
c.4860A>G (p.Ala1620=)
c.4926A>G (p.Ala1642=)
c.4908A>G (p.Ala1636=)
12g.6581090T>GCA478509140CHD4c.4824A>C (p.Ala1608=)
c.4863A>C (p.Ala1621=)
c.4938A>C (p.Ala1646=)
c.4789A>C
c.1114A>C
c.*527A>C (n.*527A>C)
c.4887A>C (p.Ala1629=)
c.4836A>C (p.Ala1612=)
c.1398A>C (p.Ala466=)
c.3577A>C
c.796A>C
c.4842A>C (p.Ala1614=)
c.4914A>C (p.Ala1638=)
c.2721A>C (p.Ala907=)
n.2820A>C
c.137A>C
c.*1623A>C (n.*1623A>C)
c.4947A>C (p.Ala1649=)
c.9+6294A>C (n.9+6294A>C)
n.1135A>C
n.4443A>C
c.934A>C
c.3788A>C
c.4803A>C (p.Ala1601=)
c.2912A>C
n.1733A>C
n.93A>C
n.81A>C
c.4860A>C (p.Ala1620=)
c.4926A>C (p.Ala1642=)
c.4908A>C (p.Ala1636=)
12g.6581091G>ACA383570145CHD4c.4823C>T (p.Ala1608Val)
c.4862C>T (p.Ala1621Val)
c.4937C>T (p.Ala1646Val)
c.4788C>T
c.1113C>T
c.*526C>T (n.*526C>T)
c.4886C>T (p.Ala1629Val)
c.4835C>T (p.Ala1612Val)
c.1397C>T (p.Ala466Val)
c.3576C>T
c.795C>T
c.4841C>T (p.Ala1614Val)
c.4913C>T (p.Ala1638Val)
c.2720C>T (p.Ala907Val)
n.2819C>T
c.136C>T
c.*1622C>T (n.*1622C>T)
c.4946C>T (p.Ala1649Val)
c.9+6293C>T (n.9+6293C>T)
n.1134C>T
n.4442C>T
c.933C>T
c.3787C>T
c.4802C>T (p.Ala1601Val)
c.2911C>T
n.1732C>T
n.92C>T
n.80C>T
c.4859C>T (p.Ala1620Val)
c.4925C>T (p.Ala1642Val)
c.4907C>T (p.Ala1636Val)
12g.6581091G>CCA383570147CHD4c.4823C>G (p.Ala1608Gly)
c.4862C>G (p.Ala1621Gly)
c.4937C>G (p.Ala1646Gly)
c.4788C>G
c.1113C>G
c.*526C>G (n.*526C>G)
c.4886C>G (p.Ala1629Gly)
c.4835C>G (p.Ala1612Gly)
c.1397C>G (p.Ala466Gly)
c.3576C>G
c.795C>G
c.4841C>G (p.Ala1614Gly)
c.4913C>G (p.Ala1638Gly)
c.2720C>G (p.Ala907Gly)
n.2819C>G
c.136C>G
c.*1622C>G (n.*1622C>G)
c.4946C>G (p.Ala1649Gly)
c.9+6293C>G (n.9+6293C>G)
n.1134C>G
n.4442C>G
c.933C>G
c.3787C>G
c.4802C>G (p.Ala1601Gly)
c.2911C>G
n.1732C>G
n.92C>G
n.80C>G
c.4859C>G (p.Ala1620Gly)
c.4925C>G (p.Ala1642Gly)
c.4907C>G (p.Ala1636Gly)
12g.6581091G>TCA383570148CHD4c.4823C>A (p.Ala1608Glu)
c.4862C>A (p.Ala1621Glu)
c.4937C>A (p.Ala1646Glu)
c.4788C>A
c.1113C>A
c.*526C>A (n.*526C>A)
c.4886C>A (p.Ala1629Glu)
c.4835C>A (p.Ala1612Glu)
c.1397C>A (p.Ala466Glu)
c.3576C>A
c.795C>A
c.4841C>A (p.Ala1614Glu)
c.4913C>A (p.Ala1638Glu)
c.2720C>A (p.Ala907Glu)
n.2819C>A
c.136C>A
c.*1622C>A (n.*1622C>A)
c.4946C>A (p.Ala1649Glu)
c.9+6293C>A (n.9+6293C>A)
n.1134C>A
n.4442C>A
c.933C>A
c.3787C>A
c.4802C>A (p.Ala1601Glu)
c.2911C>A
n.1732C>A
n.92C>A
n.80C>A
c.4859C>A (p.Ala1620Glu)
c.4925C>A (p.Ala1642Glu)
c.4907C>A (p.Ala1636Glu)
12g.6581092C>ACA383570152CHD4c.4822G>T (p.Ala1608Ser)
c.4861G>T (p.Ala1621Ser)
c.4936G>T (p.Ala1646Ser)
c.4787G>T
c.1112G>T
c.*525G>T (n.*525G>T)
c.4885G>T (p.Ala1629Ser)
c.4834G>T (p.Ala1612Ser)
c.1396G>T (p.Ala466Ser)
c.3575G>T
c.794G>T
c.4840G>T (p.Ala1614Ser)
c.4912G>T (p.Ala1638Ser)
c.2719G>T (p.Ala907Ser)
n.2818G>T
c.135G>T
c.*1621G>T (n.*1621G>T)
c.4945G>T (p.Ala1649Ser)
c.9+6292G>T (n.9+6292G>T)
n.1133G>T
n.4441G>T
c.932G>T
c.3786G>T
c.4801G>T (p.Ala1601Ser)
c.2910G>T
n.1731G>T
n.91G>T
n.79G>T
c.4858G>T (p.Ala1620Ser)
c.4924G>T (p.Ala1642Ser)
c.4906G>T (p.Ala1636Ser)
 gnomAD v4
12g.6581092C>GCA383570154CHD4c.4822G>C (p.Ala1608Pro)
c.4861G>C (p.Ala1621Pro)
c.4936G>C (p.Ala1646Pro)
c.4787G>C
c.1112G>C
c.*525G>C (n.*525G>C)
c.4885G>C (p.Ala1629Pro)
c.4834G>C (p.Ala1612Pro)
c.1396G>C (p.Ala466Pro)
c.3575G>C
c.794G>C
c.4840G>C (p.Ala1614Pro)
c.4912G>C (p.Ala1638Pro)
c.2719G>C (p.Ala907Pro)
n.2818G>C
c.135G>C
c.*1621G>C (n.*1621G>C)
c.4945G>C (p.Ala1649Pro)
c.9+6292G>C (n.9+6292G>C)
n.1133G>C
n.4441G>C
c.932G>C
c.3786G>C
c.4801G>C (p.Ala1601Pro)
c.2910G>C
n.1731G>C
n.91G>C
n.79G>C
c.4858G>C (p.Ala1620Pro)
c.4924G>C (p.Ala1642Pro)
c.4906G>C (p.Ala1636Pro)
12g.6581092C>TCA383570157CHD4c.4822G>A (p.Ala1608Thr)
c.4861G>A (p.Ala1621Thr)
c.4936G>A (p.Ala1646Thr)
c.4787G>A
c.1112G>A
c.*525G>A (n.*525G>A)
c.4885G>A (p.Ala1629Thr)
c.4834G>A (p.Ala1612Thr)
c.1396G>A (p.Ala466Thr)
c.3575G>A
c.794G>A
c.4840G>A (p.Ala1614Thr)
c.4912G>A (p.Ala1638Thr)
c.2719G>A (p.Ala907Thr)
n.2818G>A
c.135G>A
c.*1621G>A (n.*1621G>A)
c.4945G>A (p.Ala1649Thr)
c.9+6292G>A (n.9+6292G>A)
n.1133G>A
n.4441G>A
c.932G>A
c.3786G>A
c.4801G>A (p.Ala1601Thr)
c.2910G>A
n.1731G>A
n.91G>A
n.79G>A
c.4858G>A (p.Ala1620Thr)
c.4924G>A (p.Ala1642Thr)
c.4906G>A (p.Ala1636Thr)
12g.6581093C>ACA383570159CHD4c.4821G>T (p.Lys1607Asn)
c.4860G>T (p.Lys1620Asn)
c.4935G>T (p.Lys1645Asn)
c.4786G>T
c.1111G>T
c.*524G>T (n.*524G>T)
c.4884G>T (p.Lys1628Asn)
c.4833G>T (p.Lys1611Asn)
c.1395G>T (p.Lys465Asn)
c.3574G>T
c.793G>T
c.4839G>T (p.Lys1613Asn)
c.4911G>T (p.Lys1637Asn)
c.2718G>T (p.Lys906Asn)
n.2817G>T
c.134G>T
c.*1620G>T (n.*1620G>T)
c.4944G>T (p.Lys1648Asn)
c.9+6291G>T (n.9+6291G>T)
n.1132G>T
n.4440G>T
c.931G>T
c.3785G>T
c.4800G>T (p.Lys1600Asn)
c.2909G>T
n.1730G>T
n.90G>T
n.78G>T
c.4857G>T (p.Lys1619Asn)
c.4923G>T (p.Lys1641Asn)
c.4905G>T (p.Lys1635Asn)
12g.6581093C>GCA383570161CHD4c.4821G>C (p.Lys1607Asn)
c.4860G>C (p.Lys1620Asn)
c.4935G>C (p.Lys1645Asn)
c.4786G>C
c.1111G>C
c.*524G>C (n.*524G>C)
c.4884G>C (p.Lys1628Asn)
c.4833G>C (p.Lys1611Asn)
c.1395G>C (p.Lys465Asn)
c.3574G>C
c.793G>C
c.4839G>C (p.Lys1613Asn)
c.4911G>C (p.Lys1637Asn)
c.2718G>C (p.Lys906Asn)
n.2817G>C
c.134G>C
c.*1620G>C (n.*1620G>C)
c.4944G>C (p.Lys1648Asn)
c.9+6291G>C (n.9+6291G>C)
n.1132G>C
n.4440G>C
c.931G>C
c.3785G>C
c.4800G>C (p.Lys1600Asn)
c.2909G>C
n.1730G>C
n.90G>C
n.78G>C
c.4857G>C (p.Lys1619Asn)
c.4923G>C (p.Lys1641Asn)
c.4905G>C (p.Lys1635Asn)
12g.6581093C>TCA478509141CHD4c.4821G>A (p.Lys1607=)
c.4860G>A (p.Lys1620=)
c.4935G>A (p.Lys1645=)
c.4786G>A
c.1111G>A
c.*524G>A (n.*524G>A)
c.4884G>A (p.Lys1628=)
c.4833G>A (p.Lys1611=)
c.1395G>A (p.Lys465=)
c.3574G>A
c.793G>A
c.4839G>A (p.Lys1613=)
c.4911G>A (p.Lys1637=)
c.2718G>A (p.Lys906=)
n.2817G>A
c.134G>A
c.*1620G>A (n.*1620G>A)
c.4944G>A (p.Lys1648=)
c.9+6291G>A (n.9+6291G>A)
n.1132G>A
n.4440G>A
c.931G>A
c.3785G>A
c.4800G>A (p.Lys1600=)
c.2909G>A
n.1730G>A
n.90G>A
n.78G>A
c.4857G>A (p.Lys1619=)
c.4923G>A (p.Lys1641=)
c.4905G>A (p.Lys1635=)
 gnomAD v4
12g.6581094T>ACA383570168CHD4c.4820A>T (p.Lys1607Met)
c.4859A>T (p.Lys1620Met)
c.4934A>T (p.Lys1645Met)
c.4785A>T
c.1110A>T
c.*523A>T (n.*523A>T)
c.4883A>T (p.Lys1628Met)
c.4832A>T (p.Lys1611Met)
c.1394A>T (p.Lys465Met)
c.3573A>T
c.792A>T
c.4838A>T (p.Lys1613Met)
c.4910A>T (p.Lys1637Met)
c.2717A>T (p.Lys906Met)
n.2816A>T
c.133A>T
c.*1619A>T (n.*1619A>T)
c.4943A>T (p.Lys1648Met)
c.9+6290A>T (n.9+6290A>T)
n.1131A>T
n.4439A>T
c.930A>T
c.3784A>T
c.4799A>T (p.Lys1600Met)
c.2908A>T
n.1729A>T
n.89A>T
n.77A>T
c.4856A>T (p.Lys1619Met)
c.4922A>T (p.Lys1641Met)
c.4904A>T (p.Lys1635Met)
12g.6581094T>CCA383570170CHD4c.4820A>G (p.Lys1607Arg)
c.4859A>G (p.Lys1620Arg)
c.4934A>G (p.Lys1645Arg)
c.4785A>G
c.1110A>G
c.*523A>G (n.*523A>G)
c.4883A>G (p.Lys1628Arg)
c.4832A>G (p.Lys1611Arg)
c.1394A>G (p.Lys465Arg)
c.3573A>G
c.792A>G
c.4838A>G (p.Lys1613Arg)
c.4910A>G (p.Lys1637Arg)
c.2717A>G (p.Lys906Arg)
n.2816A>G
c.133A>G
c.*1619A>G (n.*1619A>G)
c.4943A>G (p.Lys1648Arg)
c.9+6290A>G (n.9+6290A>G)
n.1131A>G
n.4439A>G
c.930A>G
c.3784A>G
c.4799A>G (p.Lys1600Arg)
c.2908A>G
n.1729A>G
n.89A>G
n.77A>G
c.4856A>G (p.Lys1619Arg)
c.4922A>G (p.Lys1641Arg)
c.4904A>G (p.Lys1635Arg)
12g.6581094T>GCA383570172CHD4c.4820A>C (p.Lys1607Thr)
c.4859A>C (p.Lys1620Thr)
c.4934A>C (p.Lys1645Thr)
c.4785A>C
c.1110A>C
c.*523A>C (n.*523A>C)
c.4883A>C (p.Lys1628Thr)
c.4832A>C (p.Lys1611Thr)
c.1394A>C (p.Lys465Thr)
c.3573A>C
c.792A>C
c.4838A>C (p.Lys1613Thr)
c.4910A>C (p.Lys1637Thr)
c.2717A>C (p.Lys906Thr)
n.2816A>C
c.133A>C
c.*1619A>C (n.*1619A>C)
c.4943A>C (p.Lys1648Thr)
c.9+6290A>C (n.9+6290A>C)
n.1131A>C
n.4439A>C
c.930A>C
c.3784A>C
c.4799A>C (p.Lys1600Thr)
c.2908A>C
n.1729A>C
n.89A>C
n.77A>C
c.4856A>C (p.Lys1619Thr)
c.4922A>C (p.Lys1641Thr)
c.4904A>C (p.Lys1635Thr)
12g.6581095T>ACA383570183CHD4c.4819A>T (p.Lys1607Ter)
c.4858A>T (p.Lys1620Ter)
c.4933A>T (p.Lys1645Ter)
c.4784A>T
c.1109A>T
c.*522A>T (n.*522A>T)
c.4882A>T (p.Lys1628Ter)
c.4831A>T (p.Lys1611Ter)
c.1393A>T (p.Lys465Ter)
c.3572A>T
c.791A>T
c.4837A>T (p.Lys1613Ter)
c.4909A>T (p.Lys1637Ter)
c.2716A>T (p.Lys906Ter)
n.2815A>T
c.132A>T
c.*1618A>T (n.*1618A>T)
c.4942A>T (p.Lys1648Ter)
c.9+6289A>T (n.9+6289A>T)
n.1130A>T
n.4438A>T
c.929A>T
c.3783A>T
c.4798A>T (p.Lys1600Ter)
c.2907A>T
n.1728A>T
n.88A>T
n.76A>T
c.4855A>T (p.Lys1619Ter)
c.4921A>T (p.Lys1641Ter)
c.4903A>T (p.Lys1635Ter)
12g.6581095T>CCA6411411CHD4c.4819A>G (p.Lys1607Glu)
c.4858A>G (p.Lys1620Glu)
c.4933A>G (p.Lys1645Glu)
c.4784A>G
c.1109A>G
c.*522A>G (n.*522A>G)
c.4882A>G (p.Lys1628Glu)
c.4831A>G (p.Lys1611Glu)
c.1393A>G (p.Lys465Glu)
c.3572A>G
c.791A>G
c.4837A>G (p.Lys1613Glu)
c.4909A>G (p.Lys1637Glu)
c.2716A>G (p.Lys906Glu)
n.2815A>G
c.132A>G
c.*1618A>G (n.*1618A>G)
c.4942A>G (p.Lys1648Glu)
c.9+6289A>G (n.9+6289A>G)
n.1130A>G
n.4438A>G
c.929A>G
c.3783A>G
c.4798A>G (p.Lys1600Glu)
c.2907A>G
n.1728A>G
n.88A>G
n.76A>G
c.4855A>G (p.Lys1619Glu)
c.4921A>G (p.Lys1641Glu)
c.4903A>G (p.Lys1635Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6581095T>GCA383570180CHD4c.4819A>C (p.Lys1607Gln)
c.4858A>C (p.Lys1620Gln)
c.4933A>C (p.Lys1645Gln)
c.4784A>C
c.1109A>C
c.*522A>C (n.*522A>C)
c.4882A>C (p.Lys1628Gln)
c.4831A>C (p.Lys1611Gln)
c.1393A>C (p.Lys465Gln)
c.3572A>C
c.791A>C
c.4837A>C (p.Lys1613Gln)
c.4909A>C (p.Lys1637Gln)
c.2716A>C (p.Lys906Gln)
n.2815A>C
c.132A>C
c.*1618A>C (n.*1618A>C)
c.4942A>C (p.Lys1648Gln)
c.9+6289A>C (n.9+6289A>C)
n.1130A>C
n.4438A>C
c.929A>C
c.3783A>C
c.4798A>C (p.Lys1600Gln)
c.2907A>C
n.1728A>C
n.88A>C
n.76A>C
c.4855A>C (p.Lys1619Gln)
c.4921A>C (p.Lys1641Gln)
c.4903A>C (p.Lys1635Gln)
12g.6581095T=CA2014144948CHD4c.4819A= (p.Lys1607=)
c.4858A= (p.Lys1620=)
c.4933A= (p.Lys1645=)
c.4784A=
c.1109A=
c.*522A= (n.*522A=)
c.4882A= (p.Lys1628=)
c.4831A= (p.Lys1611=)
c.1393A= (p.Lys465=)
c.3572A=
c.791A=
c.4837A= (p.Lys1613=)
c.4909A= (p.Lys1637=)
c.2716A= (p.Lys906=)
n.2815A=
c.132A=
c.*1618A= (n.*1618A=)
c.4942A= (p.Lys1648=)
c.9+6289A= (n.9+6289A=)
n.1130A=
n.4438A=
c.929A=
c.3783A=
c.4798A= (p.Lys1600=)
c.2907A=
n.1728A=
n.88A=
n.76A=
c.4855A= (p.Lys1619=)
c.4921A= (p.Lys1641=)
c.4903A= (p.Lys1635=)
12g.6581096T>ACA383570186CHD4c.4818A>T (p.Glu1606Asp)
c.4857A>T (p.Glu1619Asp)
c.4932A>T (p.Glu1644Asp)
c.4783A>T
c.1108A>T
c.*521A>T (n.*521A>T)
c.4881A>T (p.Glu1627Asp)
c.4830A>T (p.Glu1610Asp)
c.1392A>T (p.Glu464Asp)
c.3571A>T
c.790A>T
c.4836A>T (p.Glu1612Asp)
c.4908A>T (p.Glu1636Asp)
c.2715A>T (p.Glu905Asp)
n.2814A>T
c.131A>T
c.*1617A>T (n.*1617A>T)
c.4941A>T (p.Glu1647Asp)
c.9+6288A>T (n.9+6288A>T)
n.1129A>T
n.4437A>T
c.928A>T
c.3782A>T
c.4797A>T (p.Glu1599Asp)
c.2906A>T
n.1727A>T
n.87A>T
n.75A>T
c.4854A>T (p.Glu1618Asp)
c.4920A>T (p.Glu1640Asp)
c.4902A>T (p.Glu1634Asp)
12g.6581096T>CCA478509142CHD4c.4818A>G (p.Glu1606=)
c.4857A>G (p.Glu1619=)
c.4932A>G (p.Glu1644=)
c.4783A>G
c.1108A>G
c.*521A>G (n.*521A>G)
c.4881A>G (p.Glu1627=)
c.4830A>G (p.Glu1610=)
c.1392A>G (p.Glu464=)
c.3571A>G
c.790A>G
c.4836A>G (p.Glu1612=)
c.4908A>G (p.Glu1636=)
c.2715A>G (p.Glu905=)
n.2814A>G
c.131A>G
c.*1617A>G (n.*1617A>G)
c.4941A>G (p.Glu1647=)
c.9+6288A>G (n.9+6288A>G)
n.1129A>G
n.4437A>G
c.928A>G
c.3782A>G
c.4797A>G (p.Glu1599=)
c.2906A>G
n.1727A>G
n.87A>G
n.75A>G
c.4854A>G (p.Glu1618=)
c.4920A>G (p.Glu1640=)
c.4902A>G (p.Glu1634=)
12g.6581096T>GCA383570187CHD4c.4818A>C (p.Glu1606Asp)
c.4857A>C (p.Glu1619Asp)
c.4932A>C (p.Glu1644Asp)
c.4783A>C
c.1108A>C
c.*521A>C (n.*521A>C)
c.4881A>C (p.Glu1627Asp)
c.4830A>C (p.Glu1610Asp)
c.1392A>C (p.Glu464Asp)
c.3571A>C
c.790A>C
c.4836A>C (p.Glu1612Asp)
c.4908A>C (p.Glu1636Asp)
c.2715A>C (p.Glu905Asp)
n.2814A>C
c.131A>C
c.*1617A>C (n.*1617A>C)
c.4941A>C (p.Glu1647Asp)
c.9+6288A>C (n.9+6288A>C)
n.1129A>C
n.4437A>C
c.928A>C
c.3782A>C
c.4797A>C (p.Glu1599Asp)
c.2906A>C
n.1727A>C
n.87A>C
n.75A>C
c.4854A>C (p.Glu1618Asp)
c.4920A>C (p.Glu1640Asp)
c.4902A>C (p.Glu1634Asp)
12g.6581097T>ACA383570188CHD4c.4817A>T (p.Glu1606Val)
c.4856A>T (p.Glu1619Val)
c.4931A>T (p.Glu1644Val)
c.4782A>T
c.1107A>T
c.*520A>T (n.*520A>T)
c.4880A>T (p.Glu1627Val)
c.4829A>T (p.Glu1610Val)
c.1391A>T (p.Glu464Val)
c.3570A>T
c.789A>T
c.4835A>T (p.Glu1612Val)
c.4907A>T (p.Glu1636Val)
c.2714A>T (p.Glu905Val)
n.2813A>T
c.130A>T
c.*1616A>T (n.*1616A>T)
c.4940A>T (p.Glu1647Val)
c.9+6287A>T (n.9+6287A>T)
n.1128A>T
n.4436A>T
c.927A>T
c.3781A>T
c.4796A>T (p.Glu1599Val)
c.2905A>T
n.1726A>T
n.86A>T
n.74A>T
c.4853A>T (p.Glu1618Val)
c.4919A>T (p.Glu1640Val)
c.4901A>T (p.Glu1634Val)
12g.6581097T>CCA383570189CHD4c.4817A>G (p.Glu1606Gly)
c.4856A>G (p.Glu1619Gly)
c.4931A>G (p.Glu1644Gly)
c.4782A>G
c.1107A>G
c.*520A>G (n.*520A>G)
c.4880A>G (p.Glu1627Gly)
c.4829A>G (p.Glu1610Gly)
c.1391A>G (p.Glu464Gly)
c.3570A>G
c.789A>G
c.4835A>G (p.Glu1612Gly)
c.4907A>G (p.Glu1636Gly)
c.2714A>G (p.Glu905Gly)
n.2813A>G
c.130A>G
c.*1616A>G (n.*1616A>G)
c.4940A>G (p.Glu1647Gly)
c.9+6287A>G (n.9+6287A>G)
n.1128A>G
n.4436A>G
c.927A>G
c.3781A>G
c.4796A>G (p.Glu1599Gly)
c.2905A>G
n.1726A>G
n.86A>G
n.74A>G
c.4853A>G (p.Glu1618Gly)
c.4919A>G (p.Glu1640Gly)
c.4901A>G (p.Glu1634Gly)
 gnomAD v4
12g.6581097T>GCA383570191CHD4c.4817A>C (p.Glu1606Ala)
c.4856A>C (p.Glu1619Ala)
c.4931A>C (p.Glu1644Ala)
c.4782A>C
c.1107A>C
c.*520A>C (n.*520A>C)
c.4880A>C (p.Glu1627Ala)
c.4829A>C (p.Glu1610Ala)
c.1391A>C (p.Glu464Ala)
c.3570A>C
c.789A>C
c.4835A>C (p.Glu1612Ala)
c.4907A>C (p.Glu1636Ala)
c.2714A>C (p.Glu905Ala)
n.2813A>C
c.130A>C
c.*1616A>C (n.*1616A>C)
c.4940A>C (p.Glu1647Ala)
c.9+6287A>C (n.9+6287A>C)
n.1128A>C
n.4436A>C
c.927A>C
c.3781A>C
c.4796A>C (p.Glu1599Ala)
c.2905A>C
n.1726A>C
n.86A>C
n.74A>C
c.4853A>C (p.Glu1618Ala)
c.4919A>C (p.Glu1640Ala)
c.4901A>C (p.Glu1634Ala)
12g.6581098C>ACA383570194CHD4c.4816G>T (p.Glu1606Ter)
c.4855G>T (p.Glu1619Ter)
c.4930G>T (p.Glu1644Ter)
c.4781G>T
c.1106G>T
c.*519G>T (n.*519G>T)
c.4879G>T (p.Glu1627Ter)
c.4828G>T (p.Glu1610Ter)
c.1390G>T (p.Glu464Ter)
c.3569G>T
c.788G>T
c.4834G>T (p.Glu1612Ter)
c.4906G>T (p.Glu1636Ter)
c.2713G>T (p.Glu905Ter)
n.2812G>T
c.129G>T
c.*1615G>T (n.*1615G>T)
c.4939G>T (p.Glu1647Ter)
c.9+6286G>T (n.9+6286G>T)
n.1127G>T
n.4435G>T
c.926G>T
c.3780G>T
c.4795G>T (p.Glu1599Ter)
c.2904G>T
n.1725G>T
n.85G>T
n.73G>T
c.4852G>T (p.Glu1618Ter)
c.4918G>T (p.Glu1640Ter)
c.4900G>T (p.Glu1634Ter)
12g.6581098C>GCA383570195CHD4c.4816G>C (p.Glu1606Gln)
c.4855G>C (p.Glu1619Gln)
c.4930G>C (p.Glu1644Gln)
c.4781G>C
c.1106G>C
c.*519G>C (n.*519G>C)
c.4879G>C (p.Glu1627Gln)
c.4828G>C (p.Glu1610Gln)
c.1390G>C (p.Glu464Gln)
c.3569G>C
c.788G>C
c.4834G>C (p.Glu1612Gln)
c.4906G>C (p.Glu1636Gln)
c.2713G>C (p.Glu905Gln)
n.2812G>C
c.129G>C
c.*1615G>C (n.*1615G>C)
c.4939G>C (p.Glu1647Gln)
c.9+6286G>C (n.9+6286G>C)
n.1127G>C
n.4435G>C
c.926G>C
c.3780G>C
c.4795G>C (p.Glu1599Gln)
c.2904G>C
n.1725G>C
n.85G>C
n.73G>C
c.4852G>C (p.Glu1618Gln)
c.4918G>C (p.Glu1640Gln)
c.4900G>C (p.Glu1634Gln)
12g.6581098C>TCA383570197CHD4c.4816G>A (p.Glu1606Lys)
c.4855G>A (p.Glu1619Lys)
c.4930G>A (p.Glu1644Lys)
c.4781G>A
c.1106G>A
c.*519G>A (n.*519G>A)
c.4879G>A (p.Glu1627Lys)
c.4828G>A (p.Glu1610Lys)
c.1390G>A (p.Glu464Lys)
c.3569G>A
c.788G>A
c.4834G>A (p.Glu1612Lys)
c.4906G>A (p.Glu1636Lys)
c.2713G>A (p.Glu905Lys)
n.2812G>A
c.129G>A
c.*1615G>A (n.*1615G>A)
c.4939G>A (p.Glu1647Lys)
c.9+6286G>A (n.9+6286G>A)
n.1127G>A
n.4435G>A
c.926G>A
c.3780G>A
c.4795G>A (p.Glu1599Lys)
c.2904G>A
n.1725G>A
n.85G>A
n.73G>A
c.4852G>A (p.Glu1618Lys)
c.4918G>A (p.Glu1640Lys)
c.4900G>A (p.Glu1634Lys)
12g.6581099C>ACA478509143CHD4c.4815G>T (p.Val1605=)
c.4854G>T (p.Val1618=)
c.4929G>T (p.Val1643=)
c.4780G>T
c.1105G>T
c.*518G>T (n.*518G>T)
c.4878G>T (p.Val1626=)
c.4827G>T (p.Val1609=)
c.1389G>T (p.Val463=)
c.3568G>T
c.787G>T
c.4833G>T (p.Val1611=)
c.4905G>T (p.Val1635=)
c.2712G>T (p.Val904=)
n.2811G>T
c.128G>T
c.*1614G>T (n.*1614G>T)
c.4938G>T (p.Val1646=)
c.9+6285G>T (n.9+6285G>T)
n.1126G>T
n.4434G>T
c.925G>T
c.3779G>T
c.4794G>T (p.Val1598=)
c.2903G>T
n.1724G>T
n.84G>T
n.72G>T
c.4851G>T (p.Val1617=)
c.4917G>T (p.Val1639=)
c.4899G>T (p.Val1633=)
12g.6581099C>GCA478509144CHD4c.4815G>C (p.Val1605=)
c.4854G>C (p.Val1618=)
c.4929G>C (p.Val1643=)
c.4780G>C
c.1105G>C
c.*518G>C (n.*518G>C)
c.4878G>C (p.Val1626=)
c.4827G>C (p.Val1609=)
c.1389G>C (p.Val463=)
c.3568G>C
c.787G>C
c.4833G>C (p.Val1611=)
c.4905G>C (p.Val1635=)
c.2712G>C (p.Val904=)
n.2811G>C
c.128G>C
c.*1614G>C (n.*1614G>C)
c.4938G>C (p.Val1646=)
c.9+6285G>C (n.9+6285G>C)
n.1126G>C
n.4434G>C
c.925G>C
c.3779G>C
c.4794G>C (p.Val1598=)
c.2903G>C
n.1724G>C
n.84G>C
n.72G>C
c.4851G>C (p.Val1617=)
c.4917G>C (p.Val1639=)
c.4899G>C (p.Val1633=)
12g.6581099C>TCA478509145CHD4c.4815G>A (p.Val1605=)
c.4854G>A (p.Val1618=)
c.4929G>A (p.Val1643=)
c.4780G>A
c.1105G>A
c.*518G>A (n.*518G>A)
c.4878G>A (p.Val1626=)
c.4827G>A (p.Val1609=)
c.1389G>A (p.Val463=)
c.3568G>A
c.787G>A
c.4833G>A (p.Val1611=)
c.4905G>A (p.Val1635=)
c.2712G>A (p.Val904=)
n.2811G>A
c.128G>A
c.*1614G>A (n.*1614G>A)
c.4938G>A (p.Val1646=)
c.9+6285G>A (n.9+6285G>A)
n.1126G>A
n.4434G>A
c.925G>A
c.3779G>A
c.4794G>A (p.Val1598=)
c.2903G>A
n.1724G>A
n.84G>A
n.72G>A
c.4851G>A (p.Val1617=)
c.4917G>A (p.Val1639=)
c.4899G>A (p.Val1633=)
 gnomAD v4
12g.6581100A=CA2014144949CHD4c.4814T= (p.Val1605=)
c.4853T= (p.Val1618=)
c.4928T= (p.Val1643=)
c.4779T=
c.1104T=
c.*517T= (n.*517T=)
c.4877T= (p.Val1626=)
c.4826T= (p.Val1609=)
c.1388T= (p.Val463=)
c.3567T=
c.786T=
c.4832T= (p.Val1611=)
c.4904T= (p.Val1635=)
c.2711T= (p.Val904=)
n.2810T=
c.127T=
c.*1613T= (n.*1613T=)
c.4937T= (p.Val1646=)
c.9+6284T= (n.9+6284T=)
n.1125T=
n.4433T=
c.924T=
c.3778T=
c.4793T= (p.Val1598=)
c.2902T=
n.1723T=
n.83T=
n.71T=
c.4850T= (p.Val1617=)
c.4916T= (p.Val1639=)
c.4898T= (p.Val1633=)
12g.6581100A>CCA383570200CHD4c.4814T>G (p.Val1605Gly)
c.4853T>G (p.Val1618Gly)
c.4928T>G (p.Val1643Gly)
c.4779T>G
c.1104T>G
c.*517T>G (n.*517T>G)
c.4877T>G (p.Val1626Gly)
c.4826T>G (p.Val1609Gly)
c.1388T>G (p.Val463Gly)
c.3567T>G
c.786T>G
c.4832T>G (p.Val1611Gly)
c.4904T>G (p.Val1635Gly)
c.2711T>G (p.Val904Gly)
n.2810T>G
c.127T>G
c.*1613T>G (n.*1613T>G)
c.4937T>G (p.Val1646Gly)
c.9+6284T>G (n.9+6284T>G)
n.1125T>G
n.4433T>G
c.924T>G
c.3778T>G
c.4793T>G (p.Val1598Gly)
c.2902T>G
n.1723T>G
n.83T>G
n.71T>G
c.4850T>G (p.Val1617Gly)
c.4916T>G (p.Val1639Gly)
c.4898T>G (p.Val1633Gly)
12g.6581100A>GCA6411412CHD4c.4814T>C (p.Val1605Ala)
c.4853T>C (p.Val1618Ala)
c.4928T>C (p.Val1643Ala)
c.4779T>C
c.1104T>C
c.*517T>C (n.*517T>C)
c.4877T>C (p.Val1626Ala)
c.4826T>C (p.Val1609Ala)
c.1388T>C (p.Val463Ala)
c.3567T>C
c.786T>C
c.4832T>C (p.Val1611Ala)
c.4904T>C (p.Val1635Ala)
c.2711T>C (p.Val904Ala)
n.2810T>C
c.127T>C
c.*1613T>C (n.*1613T>C)
c.4937T>C (p.Val1646Ala)
c.9+6284T>C (n.9+6284T>C)
n.1125T>C
n.4433T>C
c.924T>C
c.3778T>C
c.4793T>C (p.Val1598Ala)
c.2902T>C
n.1723T>C
n.83T>C
n.71T>C
c.4850T>C (p.Val1617Ala)
c.4916T>C (p.Val1639Ala)
c.4898T>C (p.Val1633Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6581100A>TCA383570203CHD4c.4814T>A (p.Val1605Glu)
c.4853T>A (p.Val1618Glu)
c.4928T>A (p.Val1643Glu)
c.4779T>A
c.1104T>A
c.*517T>A (n.*517T>A)
c.4877T>A (p.Val1626Glu)
c.4826T>A (p.Val1609Glu)
c.1388T>A (p.Val463Glu)
c.3567T>A
c.786T>A
c.4832T>A (p.Val1611Glu)
c.4904T>A (p.Val1635Glu)
c.2711T>A (p.Val904Glu)
n.2810T>A
c.127T>A
c.*1613T>A (n.*1613T>A)
c.4937T>A (p.Val1646Glu)
c.9+6284T>A (n.9+6284T>A)
n.1125T>A
n.4433T>A
c.924T>A
c.3778T>A
c.4793T>A (p.Val1598Glu)
c.2902T>A
n.1723T>A
n.83T>A
n.71T>A
c.4850T>A (p.Val1617Glu)
c.4916T>A (p.Val1639Glu)
c.4898T>A (p.Val1633Glu)
12g.6581101C>ACA383570206CHD4c.4813G>T (p.Val1605Leu)
c.4852G>T (p.Val1618Leu)
c.4927G>T (p.Val1643Leu)
c.4778G>T
c.1103G>T
c.*516G>T (n.*516G>T)
c.4876G>T (p.Val1626Leu)
c.4825G>T (p.Val1609Leu)
c.1387G>T (p.Val463Leu)
c.3566G>T
c.785G>T
c.4831G>T (p.Val1611Leu)
c.4903G>T (p.Val1635Leu)
c.2710G>T (p.Val904Leu)
n.2809G>T
c.126G>T
c.*1612G>T (n.*1612G>T)
c.4936G>T (p.Val1646Leu)
c.9+6283G>T (n.9+6283G>T)
n.1124G>T
n.4432G>T
c.923G>T
c.3777G>T
c.4792G>T (p.Val1598Leu)
c.2901G>T
n.1722G>T
n.82G>T
n.70G>T
c.4849G>T (p.Val1617Leu)
c.4915G>T (p.Val1639Leu)
c.4897G>T (p.Val1633Leu)
12g.6581101C>GCA383570209CHD4c.4813G>C (p.Val1605Leu)
c.4852G>C (p.Val1618Leu)
c.4927G>C (p.Val1643Leu)
c.4778G>C
c.1103G>C
c.*516G>C (n.*516G>C)
c.4876G>C (p.Val1626Leu)
c.4825G>C (p.Val1609Leu)
c.1387G>C (p.Val463Leu)
c.3566G>C
c.785G>C
c.4831G>C (p.Val1611Leu)
c.4903G>C (p.Val1635Leu)
c.2710G>C (p.Val904Leu)
n.2809G>C
c.126G>C
c.*1612G>C (n.*1612G>C)
c.4936G>C (p.Val1646Leu)
c.9+6283G>C (n.9+6283G>C)
n.1124G>C
n.4432G>C
c.923G>C
c.3777G>C
c.4792G>C (p.Val1598Leu)
c.2901G>C
n.1722G>C
n.82G>C
n.70G>C
c.4849G>C (p.Val1617Leu)
c.4915G>C (p.Val1639Leu)
c.4897G>C (p.Val1633Leu)
12g.6581101C>TCA383570205CHD4c.4813G>A (p.Val1605Met)
c.4852G>A (p.Val1618Met)
c.4927G>A (p.Val1643Met)
c.4778G>A
c.1103G>A
c.*516G>A (n.*516G>A)
c.4876G>A (p.Val1626Met)
c.4825G>A (p.Val1609Met)
c.1387G>A (p.Val463Met)
c.3566G>A
c.785G>A
c.4831G>A (p.Val1611Met)
c.4903G>A (p.Val1635Met)
c.2710G>A (p.Val904Met)
n.2809G>A
c.126G>A
c.*1612G>A (n.*1612G>A)
c.4936G>A (p.Val1646Met)
c.9+6283G>A (n.9+6283G>A)
n.1124G>A
n.4432G>A
c.923G>A
c.3777G>A
c.4792G>A (p.Val1598Met)
c.2901G>A
n.1722G>A
n.82G>A
n.70G>A
c.4849G>A (p.Val1617Met)
c.4915G>A (p.Val1639Met)
c.4897G>A (p.Val1633Met)
12g.6581102T>ACA383570211CHD4c.4812A>T (p.Lys1604Asn)
c.4851A>T (p.Lys1617Asn)
c.4926A>T (p.Lys1642Asn)
c.4777A>T
c.1102A>T
c.*515A>T (n.*515A>T)
c.4875A>T (p.Lys1625Asn)
c.4824A>T (p.Lys1608Asn)
c.1386A>T (p.Lys462Asn)
c.3565A>T
c.784A>T
c.4830A>T (p.Lys1610Asn)
c.4902A>T (p.Lys1634Asn)
c.2709A>T (p.Lys903Asn)
n.2808A>T
c.125A>T
c.*1611A>T (n.*1611A>T)
c.4935A>T (p.Lys1645Asn)
c.9+6282A>T (n.9+6282A>T)
n.1123A>T
n.4431A>T
c.922A>T
c.3776A>T
c.4791A>T (p.Lys1597Asn)
c.2900A>T
n.1721A>T
n.81A>T
n.69A>T
c.4848A>T (p.Lys1616Asn)
c.4914A>T (p.Lys1638Asn)
c.4896A>T (p.Lys1632Asn)
12g.6581102T>CCA478509146CHD4c.4812A>G (p.Lys1604=)
c.4851A>G (p.Lys1617=)
c.4926A>G (p.Lys1642=)
c.4777A>G
c.1102A>G
c.*515A>G (n.*515A>G)
c.4875A>G (p.Lys1625=)
c.4824A>G (p.Lys1608=)
c.1386A>G (p.Lys462=)
c.3565A>G
c.784A>G
c.4830A>G (p.Lys1610=)
c.4902A>G (p.Lys1634=)
c.2709A>G (p.Lys903=)
n.2808A>G
c.125A>G
c.*1611A>G (n.*1611A>G)
c.4935A>G (p.Lys1645=)
c.9+6282A>G (n.9+6282A>G)
n.1123A>G
n.4431A>G
c.922A>G
c.3776A>G
c.4791A>G (p.Lys1597=)
c.2900A>G
n.1721A>G
n.81A>G
n.69A>G
c.4848A>G (p.Lys1616=)
c.4914A>G (p.Lys1638=)
c.4896A>G (p.Lys1632=)
 dbSNP gnomAD v4
12g.6581102T>GCA383570213CHD4c.4812A>C (p.Lys1604Asn)
c.4851A>C (p.Lys1617Asn)
c.4926A>C (p.Lys1642Asn)
c.4777A>C
c.1102A>C
c.*515A>C (n.*515A>C)
c.4875A>C (p.Lys1625Asn)
c.4824A>C (p.Lys1608Asn)
c.1386A>C (p.Lys462Asn)
c.3565A>C
c.784A>C
c.4830A>C (p.Lys1610Asn)
c.4902A>C (p.Lys1634Asn)
c.2709A>C (p.Lys903Asn)
n.2808A>C
c.125A>C
c.*1611A>C (n.*1611A>C)
c.4935A>C (p.Lys1645Asn)
c.9+6282A>C (n.9+6282A>C)
n.1123A>C
n.4431A>C
c.922A>C
c.3776A>C
c.4791A>C (p.Lys1597Asn)
c.2900A>C
n.1721A>C
n.81A>C
n.69A>C
c.4848A>C (p.Lys1616Asn)
c.4914A>C (p.Lys1638Asn)
c.4896A>C (p.Lys1632Asn)
12g.6581102T=CA2014144950CHD4c.4812A= (p.Lys1604=)
c.4851A= (p.Lys1617=)
c.4926A= (p.Lys1642=)
c.4777A=
c.1102A=
c.*515A= (n.*515A=)
c.4875A= (p.Lys1625=)
c.4824A= (p.Lys1608=)
c.1386A= (p.Lys462=)
c.3565A=
c.784A=
c.4830A= (p.Lys1610=)
c.4902A= (p.Lys1634=)
c.2709A= (p.Lys903=)
n.2808A=
c.125A=
c.*1611A= (n.*1611A=)
c.4935A= (p.Lys1645=)
c.9+6282A= (n.9+6282A=)
n.1123A=
n.4431A=
c.922A=
c.3776A=
c.4791A= (p.Lys1597=)
c.2900A=
n.1721A=
n.81A=
n.69A=
c.4848A= (p.Lys1616=)
c.4914A= (p.Lys1638=)
c.4896A= (p.Lys1632=)
12g.6581103T>ACA383570215CHD4c.4811A>T (p.Lys1604Ile)
c.4850A>T (p.Lys1617Ile)
c.4925A>T (p.Lys1642Ile)
c.4776A>T
c.1101A>T
c.*514A>T (n.*514A>T)
c.4874A>T (p.Lys1625Ile)
c.4823A>T (p.Lys1608Ile)
c.1385A>T (p.Lys462Ile)
c.3564A>T
c.783A>T
c.4829A>T (p.Lys1610Ile)
c.4901A>T (p.Lys1634Ile)
c.2708A>T (p.Lys903Ile)
n.2807A>T
c.124A>T
c.*1610A>T (n.*1610A>T)
c.4934A>T (p.Lys1645Ile)
c.9+6281A>T (n.9+6281A>T)
n.1122A>T
n.4430A>T
c.921A>T
c.3775A>T
c.4790A>T (p.Lys1597Ile)
c.2899A>T
n.1720A>T
n.80A>T
n.68A>T
c.4847A>T (p.Lys1616Ile)
c.4913A>T (p.Lys1638Ile)
c.4895A>T (p.Lys1632Ile)
12g.6581103T>CCA383570216CHD4c.4811A>G (p.Lys1604Arg)
c.4850A>G (p.Lys1617Arg)
c.4925A>G (p.Lys1642Arg)
c.4776A>G
c.1101A>G
c.*514A>G (n.*514A>G)
c.4874A>G (p.Lys1625Arg)
c.4823A>G (p.Lys1608Arg)
c.1385A>G (p.Lys462Arg)
c.3564A>G
c.783A>G
c.4829A>G (p.Lys1610Arg)
c.4901A>G (p.Lys1634Arg)
c.2708A>G (p.Lys903Arg)
n.2807A>G
c.124A>G
c.*1610A>G (n.*1610A>G)
c.4934A>G (p.Lys1645Arg)
c.9+6281A>G (n.9+6281A>G)
n.1122A>G
n.4430A>G
c.921A>G
c.3775A>G
c.4790A>G (p.Lys1597Arg)
c.2899A>G
n.1720A>G
n.80A>G
n.68A>G
c.4847A>G (p.Lys1616Arg)
c.4913A>G (p.Lys1638Arg)
c.4895A>G (p.Lys1632Arg)
 dbSNP gnomAD v2 gnomAD v4
12g.6581103T>GCA383570219CHD4c.4811A>C (p.Lys1604Thr)
c.4850A>C (p.Lys1617Thr)
c.4925A>C (p.Lys1642Thr)
c.4776A>C
c.1101A>C
c.*514A>C (n.*514A>C)
c.4874A>C (p.Lys1625Thr)
c.4823A>C (p.Lys1608Thr)
c.1385A>C (p.Lys462Thr)
c.3564A>C
c.783A>C
c.4829A>C (p.Lys1610Thr)
c.4901A>C (p.Lys1634Thr)
c.2708A>C (p.Lys903Thr)
n.2807A>C
c.124A>C
c.*1610A>C (n.*1610A>C)
c.4934A>C (p.Lys1645Thr)
c.9+6281A>C (n.9+6281A>C)
n.1122A>C
n.4430A>C
c.921A>C
c.3775A>C
c.4790A>C (p.Lys1597Thr)
c.2899A>C
n.1720A>C
n.80A>C
n.68A>C
c.4847A>C (p.Lys1616Thr)
c.4913A>C (p.Lys1638Thr)
c.4895A>C (p.Lys1632Thr)
12g.6581103T=CA2014144951CHD4c.4811A= (p.Lys1604=)
c.4850A= (p.Lys1617=)
c.4925A= (p.Lys1642=)
c.4776A=
c.1101A=
c.*514A= (n.*514A=)
c.4874A= (p.Lys1625=)
c.4823A= (p.Lys1608=)
c.1385A= (p.Lys462=)
c.3564A=
c.783A=
c.4829A= (p.Lys1610=)
c.4901A= (p.Lys1634=)
c.2708A= (p.Lys903=)
n.2807A=
c.124A=
c.*1610A= (n.*1610A=)
c.4934A= (p.Lys1645=)
c.9+6281A= (n.9+6281A=)
n.1122A=
n.4430A=
c.921A=
c.3775A=
c.4790A= (p.Lys1597=)
c.2899A=
n.1720A=
n.80A=
n.68A=
c.4847A= (p.Lys1616=)
c.4913A= (p.Lys1638=)
c.4895A= (p.Lys1632=)
12g.6581104T>ACA383570222CHD4c.4810A>T (p.Lys1604Ter)
c.4849A>T (p.Lys1617Ter)
c.4924A>T (p.Lys1642Ter)
c.4775A>T
c.1100A>T
c.*513A>T (n.*513A>T)
c.4873A>T (p.Lys1625Ter)
c.4822A>T (p.Lys1608Ter)
c.1384A>T (p.Lys462Ter)
c.3563A>T
c.782A>T
c.4828A>T (p.Lys1610Ter)
c.4900A>T (p.Lys1634Ter)
c.2707A>T (p.Lys903Ter)
n.2806A>T
c.123A>T
c.*1609A>T (n.*1609A>T)
c.4933A>T (p.Lys1645Ter)
c.9+6280A>T (n.9+6280A>T)
n.1121A>T
n.4429A>T
c.920A>T
c.3774A>T
c.4789A>T (p.Lys1597Ter)
c.2898A>T
n.1719A>T
n.79A>T
n.67A>T
c.4846A>T (p.Lys1616Ter)
c.4912A>T (p.Lys1638Ter)
c.4894A>T (p.Lys1632Ter)
12g.6581104T>CCA383570226CHD4c.4810A>G (p.Lys1604Glu)
c.4849A>G (p.Lys1617Glu)
c.4924A>G (p.Lys1642Glu)
c.4775A>G
c.1100A>G
c.*513A>G (n.*513A>G)
c.4873A>G (p.Lys1625Glu)
c.4822A>G (p.Lys1608Glu)
c.1384A>G (p.Lys462Glu)
c.3563A>G
c.782A>G
c.4828A>G (p.Lys1610Glu)
c.4900A>G (p.Lys1634Glu)
c.2707A>G (p.Lys903Glu)
n.2806A>G
c.123A>G
c.*1609A>G (n.*1609A>G)
c.4933A>G (p.Lys1645Glu)
c.9+6280A>G (n.9+6280A>G)
n.1121A>G
n.4429A>G
c.920A>G
c.3774A>G
c.4789A>G (p.Lys1597Glu)
c.2898A>G
n.1719A>G
n.79A>G
n.67A>G
c.4846A>G (p.Lys1616Glu)
c.4912A>G (p.Lys1638Glu)
c.4894A>G (p.Lys1632Glu)
12g.6581104T>GCA383570228CHD4c.4810A>C (p.Lys1604Gln)
c.4849A>C (p.Lys1617Gln)
c.4924A>C (p.Lys1642Gln)
c.4775A>C
c.1100A>C
c.*513A>C (n.*513A>C)
c.4873A>C (p.Lys1625Gln)
c.4822A>C (p.Lys1608Gln)
c.1384A>C (p.Lys462Gln)
c.3563A>C
c.782A>C
c.4828A>C (p.Lys1610Gln)
c.4900A>C (p.Lys1634Gln)
c.2707A>C (p.Lys903Gln)
n.2806A>C
c.123A>C
c.*1609A>C (n.*1609A>C)
c.4933A>C (p.Lys1645Gln)
c.9+6280A>C (n.9+6280A>C)
n.1121A>C
n.4429A>C
c.920A>C
c.3774A>C
c.4789A>C (p.Lys1597Gln)
c.2898A>C
n.1719A>C
n.79A>C
n.67A>C
c.4846A>C (p.Lys1616Gln)
c.4912A>C (p.Lys1638Gln)
c.4894A>C (p.Lys1632Gln)
12g.6581105C>ACA383570231CHD4c.4809G>T (p.Glu1603Asp)
c.4848G>T (p.Glu1616Asp)
c.4923G>T (p.Glu1641Asp)
c.4774G>T
c.1099G>T
c.*512G>T (n.*512G>T)
c.4872G>T (p.Glu1624Asp)
c.4821G>T (p.Glu1607Asp)
c.1383G>T (p.Glu461Asp)
c.3562G>T
c.781G>T
c.4827G>T (p.Glu1609Asp)
c.4899G>T (p.Glu1633Asp)
c.2706G>T (p.Glu902Asp)
n.2805G>T
c.122G>T
c.*1608G>T (n.*1608G>T)
c.4932G>T (p.Glu1644Asp)
c.9+6279G>T (n.9+6279G>T)
n.1120G>T
n.4428G>T
c.919G>T
c.3773G>T
c.4788G>T (p.Glu1596Asp)
c.2897G>T
n.1718G>T
n.78G>T
n.66G>T
c.4845G>T (p.Glu1615Asp)
c.4911G>T (p.Glu1637Asp)
c.4893G>T (p.Glu1631Asp)
12g.6581105C>GCA383570233CHD4c.4809G>C (p.Glu1603Asp)
c.4848G>C (p.Glu1616Asp)
c.4923G>C (p.Glu1641Asp)
c.4774G>C
c.1099G>C
c.*512G>C (n.*512G>C)
c.4872G>C (p.Glu1624Asp)
c.4821G>C (p.Glu1607Asp)
c.1383G>C (p.Glu461Asp)
c.3562G>C
c.781G>C
c.4827G>C (p.Glu1609Asp)
c.4899G>C (p.Glu1633Asp)
c.2706G>C (p.Glu902Asp)
n.2805G>C
c.122G>C
c.*1608G>C (n.*1608G>C)
c.4932G>C (p.Glu1644Asp)
c.9+6279G>C (n.9+6279G>C)
n.1120G>C
n.4428G>C
c.919G>C
c.3773G>C
c.4788G>C (p.Glu1596Asp)
c.2897G>C
n.1718G>C
n.78G>C
n.66G>C
c.4845G>C (p.Glu1615Asp)
c.4911G>C (p.Glu1637Asp)
c.4893G>C (p.Glu1631Asp)
12g.6581105C>TCA478509147CHD4c.4809G>A (p.Glu1603=)
c.4848G>A (p.Glu1616=)
c.4923G>A (p.Glu1641=)
c.4774G>A
c.1099G>A
c.*512G>A (n.*512G>A)
c.4872G>A (p.Glu1624=)
c.4821G>A (p.Glu1607=)
c.1383G>A (p.Glu461=)
c.3562G>A
c.781G>A
c.4827G>A (p.Glu1609=)
c.4899G>A (p.Glu1633=)
c.2706G>A (p.Glu902=)
n.2805G>A
c.122G>A
c.*1608G>A (n.*1608G>A)
c.4932G>A (p.Glu1644=)
c.9+6279G>A (n.9+6279G>A)
n.1120G>A
n.4428G>A
c.919G>A
c.3773G>A
c.4788G>A (p.Glu1596=)
c.2897G>A
n.1718G>A
n.78G>A
n.66G>A
c.4845G>A (p.Glu1615=)
c.4911G>A (p.Glu1637=)
c.4893G>A (p.Glu1631=)
 gnomAD v4
12g.6581106T>ACA383570236CHD4c.4808A>T (p.Glu1603Val)
c.4847A>T (p.Glu1616Val)
c.4922A>T (p.Glu1641Val)
c.4773A>T
c.1098A>T
c.*511A>T (n.*511A>T)
c.4871A>T (p.Glu1624Val)
c.4820A>T (p.Glu1607Val)
c.1382A>T (p.Glu461Val)
c.3561A>T
c.780A>T
c.4826A>T (p.Glu1609Val)
c.4898A>T (p.Glu1633Val)
c.2705A>T (p.Glu902Val)
n.2804A>T
c.121A>T
c.*1607A>T (n.*1607A>T)
c.4931A>T (p.Glu1644Val)
c.9+6278A>T (n.9+6278A>T)
n.1119A>T
n.4427A>T
c.918A>T
c.3772A>T
c.4787A>T (p.Glu1596Val)
c.2896A>T
n.1717A>T
n.77A>T
n.65A>T
c.4844A>T (p.Glu1615Val)
c.4910A>T (p.Glu1637Val)
c.4892A>T (p.Glu1631Val)
12g.6581106T>CCA383570238CHD4c.4808A>G (p.Glu1603Gly)
c.4847A>G (p.Glu1616Gly)
c.4922A>G (p.Glu1641Gly)
c.4773A>G
c.1098A>G
c.*511A>G (n.*511A>G)
c.4871A>G (p.Glu1624Gly)
c.4820A>G (p.Glu1607Gly)
c.1382A>G (p.Glu461Gly)
c.3561A>G
c.780A>G
c.4826A>G (p.Glu1609Gly)
c.4898A>G (p.Glu1633Gly)
c.2705A>G (p.Glu902Gly)
n.2804A>G
c.121A>G
c.*1607A>G (n.*1607A>G)
c.4931A>G (p.Glu1644Gly)
c.9+6278A>G (n.9+6278A>G)
n.1119A>G
n.4427A>G
c.918A>G
c.3772A>G
c.4787A>G (p.Glu1596Gly)
c.2896A>G
n.1717A>G
n.77A>G
n.65A>G
c.4844A>G (p.Glu1615Gly)
c.4910A>G (p.Glu1637Gly)
c.4892A>G (p.Glu1631Gly)
12g.6581106T>GCA383570240CHD4c.4808A>C (p.Glu1603Ala)
c.4847A>C (p.Glu1616Ala)
c.4922A>C (p.Glu1641Ala)
c.4773A>C
c.1098A>C
c.*511A>C (n.*511A>C)
c.4871A>C (p.Glu1624Ala)
c.4820A>C (p.Glu1607Ala)
c.1382A>C (p.Glu461Ala)
c.3561A>C
c.780A>C
c.4826A>C (p.Glu1609Ala)
c.4898A>C (p.Glu1633Ala)
c.2705A>C (p.Glu902Ala)
n.2804A>C
c.121A>C
c.*1607A>C (n.*1607A>C)
c.4931A>C (p.Glu1644Ala)
c.9+6278A>C (n.9+6278A>C)
n.1119A>C
n.4427A>C
c.918A>C
c.3772A>C
c.4787A>C (p.Glu1596Ala)
c.2896A>C
n.1717A>C
n.77A>C
n.65A>C
c.4844A>C (p.Glu1615Ala)
c.4910A>C (p.Glu1637Ala)
c.4892A>C (p.Glu1631Ala)
12g.6581107C>ACA383570248CHD4c.4807G>T (p.Glu1603Ter)
c.4846G>T (p.Glu1616Ter)
c.4921G>T (p.Glu1641Ter)
c.4772G>T
c.1097G>T
c.*510G>T (n.*510G>T)
c.4870G>T (p.Glu1624Ter)
c.4819G>T (p.Glu1607Ter)
c.1381G>T (p.Glu461Ter)
c.3560G>T
c.779G>T
c.4825G>T (p.Glu1609Ter)
c.4897G>T (p.Glu1633Ter)
c.2704G>T (p.Glu902Ter)
n.2803G>T
c.120G>T
c.*1606G>T (n.*1606G>T)
c.4930G>T (p.Glu1644Ter)
c.9+6277G>T (n.9+6277G>T)
n.1118G>T
n.4426G>T
c.917G>T
c.3771G>T
c.4786G>T (p.Glu1596Ter)
c.2895G>T
n.1716G>T
n.76G>T
n.64G>T
c.4843G>T (p.Glu1615Ter)
c.4909G>T (p.Glu1637Ter)
c.4891G>T (p.Glu1631Ter)
12g.6581107C=CA2014144952CHD4c.4807G= (p.Glu1603=)
c.4846G= (p.Glu1616=)
c.4921G= (p.Glu1641=)
c.4772G=
c.1097G=
c.*510G= (n.*510G=)
c.4870G= (p.Glu1624=)
c.4819G= (p.Glu1607=)
c.1381G= (p.Glu461=)
c.3560G=
c.779G=
c.4825G= (p.Glu1609=)
c.4897G= (p.Glu1633=)
c.2704G= (p.Glu902=)
n.2803G=
c.120G=
c.*1606G= (n.*1606G=)
c.4930G= (p.Glu1644=)
c.9+6277G= (n.9+6277G=)
n.1118G=
n.4426G=
c.917G=
c.3771G=
c.4786G= (p.Glu1596=)
c.2895G=
n.1716G=
n.76G=
n.64G=
c.4843G= (p.Glu1615=)
c.4909G= (p.Glu1637=)
c.4891G= (p.Glu1631=)
12g.6581107C>GCA383570245CHD4c.4807G>C (p.Glu1603Gln)
c.4846G>C (p.Glu1616Gln)
c.4921G>C (p.Glu1641Gln)
c.4772G>C
c.1097G>C
c.*510G>C (n.*510G>C)
c.4870G>C (p.Glu1624Gln)
c.4819G>C (p.Glu1607Gln)
c.1381G>C (p.Glu461Gln)
c.3560G>C
c.779G>C
c.4825G>C (p.Glu1609Gln)
c.4897G>C (p.Glu1633Gln)
c.2704G>C (p.Glu902Gln)
n.2803G>C
c.120G>C
c.*1606G>C (n.*1606G>C)
c.4930G>C (p.Glu1644Gln)
c.9+6277G>C (n.9+6277G>C)
n.1118G>C
n.4426G>C
c.917G>C
c.3771G>C
c.4786G>C (p.Glu1596Gln)
c.2895G>C
n.1716G>C
n.76G>C
n.64G>C
c.4843G>C (p.Glu1615Gln)
c.4909G>C (p.Glu1637Gln)
c.4891G>C (p.Glu1631Gln)
 gnomAD v4
12g.6581107C>TCA383570244CHD4c.4807G>A (p.Glu1603Lys)
c.4846G>A (p.Glu1616Lys)
c.4921G>A (p.Glu1641Lys)
c.4772G>A
c.1097G>A
c.*510G>A (n.*510G>A)
c.4870G>A (p.Glu1624Lys)
c.4819G>A (p.Glu1607Lys)
c.1381G>A (p.Glu461Lys)
c.3560G>A
c.779G>A
c.4825G>A (p.Glu1609Lys)
c.4897G>A (p.Glu1633Lys)
c.2704G>A (p.Glu902Lys)
n.2803G>A
c.120G>A
c.*1606G>A (n.*1606G>A)
c.4930G>A (p.Glu1644Lys)
c.9+6277G>A (n.9+6277G>A)
n.1118G>A
n.4426G>A
c.917G>A
c.3771G>A
c.4786G>A (p.Glu1596Lys)
c.2895G>A
n.1716G>A
n.76G>A
n.64G>A
c.4843G>A (p.Glu1615Lys)
c.4909G>A (p.Glu1637Lys)
c.4891G>A (p.Glu1631Lys)
 dbSNP gnomAD v2 gnomAD v4
12g.6581108C>ACA383570251CHD4c.4806G>T (p.Glu1602Asp)
c.4845G>T (p.Glu1615Asp)
c.4920G>T (p.Glu1640Asp)
c.4771G>T
c.1096G>T
c.*509G>T (n.*509G>T)
c.4869G>T (p.Glu1623Asp)
c.4818G>T (p.Glu1606Asp)
c.1380G>T (p.Glu460Asp)
c.3559G>T
c.778G>T
c.4824G>T (p.Glu1608Asp)
c.4896G>T (p.Glu1632Asp)
c.2703G>T (p.Glu901Asp)
n.2802G>T
c.119G>T
c.*1605G>T (n.*1605G>T)
c.4929G>T (p.Glu1643Asp)
c.9+6276G>T (n.9+6276G>T)
n.1117G>T
n.4425G>T
c.916G>T
c.3770G>T
c.4785G>T (p.Glu1595Asp)
c.2894G>T
n.1715G>T
n.75G>T
n.63G>T
c.4842G>T (p.Glu1614Asp)
c.4908G>T (p.Glu1636Asp)
c.4890G>T (p.Glu1630Asp)
12g.6581108C=CA2014144953CHD4c.4806G= (p.Glu1602=)
c.4845G= (p.Glu1615=)
c.4920G= (p.Glu1640=)
c.4771G=
c.1096G=
c.*509G= (n.*509G=)
c.4869G= (p.Glu1623=)
c.4818G= (p.Glu1606=)
c.1380G= (p.Glu460=)
c.3559G=
c.778G=
c.4824G= (p.Glu1608=)
c.4896G= (p.Glu1632=)
c.2703G= (p.Glu901=)
n.2802G=
c.119G=
c.*1605G= (n.*1605G=)
c.4929G= (p.Glu1643=)
c.9+6276G= (n.9+6276G=)
n.1117G=
n.4425G=
c.916G=
c.3770G=
c.4785G= (p.Glu1595=)
c.2894G=
n.1715G=
n.75G=
n.63G=
c.4842G= (p.Glu1614=)
c.4908G= (p.Glu1636=)
c.4890G= (p.Glu1630=)
12g.6581108C>GCA383570254CHD4c.4806G>C (p.Glu1602Asp)
c.4845G>C (p.Glu1615Asp)
c.4920G>C (p.Glu1640Asp)
c.4771G>C
c.1096G>C
c.*509G>C (n.*509G>C)
c.4869G>C (p.Glu1623Asp)
c.4818G>C (p.Glu1606Asp)
c.1380G>C (p.Glu460Asp)
c.3559G>C
c.778G>C
c.4824G>C (p.Glu1608Asp)
c.4896G>C (p.Glu1632Asp)
c.2703G>C (p.Glu901Asp)
n.2802G>C
c.119G>C
c.*1605G>C (n.*1605G>C)
c.4929G>C (p.Glu1643Asp)
c.9+6276G>C (n.9+6276G>C)
n.1117G>C
n.4425G>C
c.916G>C
c.3770G>C
c.4785G>C (p.Glu1595Asp)
c.2894G>C
n.1715G>C
n.75G>C
n.63G>C
c.4842G>C (p.Glu1614Asp)
c.4908G>C (p.Glu1636Asp)
c.4890G>C (p.Glu1630Asp)
12g.6581108C>TCA478509148CHD4c.4806G>A (p.Glu1602=)
c.4845G>A (p.Glu1615=)
c.4920G>A (p.Glu1640=)
c.4771G>A
c.1096G>A
c.*509G>A (n.*509G>A)
c.4869G>A (p.Glu1623=)
c.4818G>A (p.Glu1606=)
c.1380G>A (p.Glu460=)
c.3559G>A
c.778G>A
c.4824G>A (p.Glu1608=)
c.4896G>A (p.Glu1632=)
c.2703G>A (p.Glu901=)
n.2802G>A
c.119G>A
c.*1605G>A (n.*1605G>A)
c.4929G>A (p.Glu1643=)
c.9+6276G>A (n.9+6276G>A)
n.1117G>A
n.4425G>A
c.916G>A
c.3770G>A
c.4785G>A (p.Glu1595=)
c.2894G>A
n.1715G>A
n.75G>A
n.63G>A
c.4842G>A (p.Glu1614=)
c.4908G>A (p.Glu1636=)
c.4890G>A (p.Glu1630=)
 dbSNP
12g.6581109T>ACA6411413CHD4c.4805A>T (p.Glu1602Val)
c.4844A>T (p.Glu1615Val)
c.4919A>T (p.Glu1640Val)
c.4770A>T
c.1095A>T
c.*508A>T (n.*508A>T)
c.4868A>T (p.Glu1623Val)
c.4817A>T (p.Glu1606Val)
c.1379A>T (p.Glu460Val)
c.3558A>T
c.777A>T
c.4823A>T (p.Glu1608Val)
c.4895A>T (p.Glu1632Val)
c.2702A>T (p.Glu901Val)
n.2801A>T
c.118A>T
c.*1604A>T (n.*1604A>T)
c.4928A>T (p.Glu1643Val)
c.9+6275A>T (n.9+6275A>T)
n.1116A>T
n.4424A>T
c.915A>T
c.3769A>T
c.4784A>T (p.Glu1595Val)
c.2893A>T
n.1714A>T
n.74A>T
n.62A>T
c.4841A>T (p.Glu1614Val)
c.4907A>T (p.Glu1636Val)
c.4889A>T (p.Glu1630Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6581109T>CCA383570256CHD4c.4805A>G (p.Glu1602Gly)
c.4844A>G (p.Glu1615Gly)
c.4919A>G (p.Glu1640Gly)
c.4770A>G
c.1095A>G
c.*508A>G (n.*508A>G)
c.4868A>G (p.Glu1623Gly)
c.4817A>G (p.Glu1606Gly)
c.1379A>G (p.Glu460Gly)
c.3558A>G
c.777A>G
c.4823A>G (p.Glu1608Gly)
c.4895A>G (p.Glu1632Gly)
c.2702A>G (p.Glu901Gly)
n.2801A>G
c.118A>G
c.*1604A>G (n.*1604A>G)
c.4928A>G (p.Glu1643Gly)
c.9+6275A>G (n.9+6275A>G)
n.1116A>G
n.4424A>G
c.915A>G
c.3769A>G
c.4784A>G (p.Glu1595Gly)
c.2893A>G
n.1714A>G
n.74A>G
n.62A>G
c.4841A>G (p.Glu1614Gly)
c.4907A>G (p.Glu1636Gly)
c.4889A>G (p.Glu1630Gly)
12g.6581109T>GCA383570258CHD4c.4805A>C (p.Glu1602Ala)
c.4844A>C (p.Glu1615Ala)
c.4919A>C (p.Glu1640Ala)
c.4770A>C
c.1095A>C
c.*508A>C (n.*508A>C)
c.4868A>C (p.Glu1623Ala)
c.4817A>C (p.Glu1606Ala)
c.1379A>C (p.Glu460Ala)
c.3558A>C
c.777A>C
c.4823A>C (p.Glu1608Ala)
c.4895A>C (p.Glu1632Ala)
c.2702A>C (p.Glu901Ala)
n.2801A>C
c.118A>C
c.*1604A>C (n.*1604A>C)
c.4928A>C (p.Glu1643Ala)
c.9+6275A>C (n.9+6275A>C)
n.1116A>C
n.4424A>C
c.915A>C
c.3769A>C
c.4784A>C (p.Glu1595Ala)
c.2893A>C
n.1714A>C
n.74A>C
n.62A>C
c.4841A>C (p.Glu1614Ala)
c.4907A>C (p.Glu1636Ala)
c.4889A>C (p.Glu1630Ala)
12g.6581109T=CA2014144954CHD4c.4805A= (p.Glu1602=)
c.4844A= (p.Glu1615=)
c.4919A= (p.Glu1640=)
c.4770A=
c.1095A=
c.*508A= (n.*508A=)
c.4868A= (p.Glu1623=)
c.4817A= (p.Glu1606=)
c.1379A= (p.Glu460=)
c.3558A=
c.777A=
c.4823A= (p.Glu1608=)
c.4895A= (p.Glu1632=)
c.2702A= (p.Glu901=)
n.2801A=
c.118A=
c.*1604A= (n.*1604A=)
c.4928A= (p.Glu1643=)
c.9+6275A= (n.9+6275A=)
n.1116A=
n.4424A=
c.915A=
c.3769A=
c.4784A= (p.Glu1595=)
c.2893A=
n.1714A=
n.74A=
n.62A=
c.4841A= (p.Glu1614=)
c.4907A= (p.Glu1636=)
c.4889A= (p.Glu1630=)
12g.6581110C>ACA383570261CHD4c.4804G>T (p.Glu1602Ter)
c.4843G>T (p.Glu1615Ter)
c.4918G>T (p.Glu1640Ter)
c.4769G>T
c.1094G>T
c.*507G>T (n.*507G>T)
c.4867G>T (p.Glu1623Ter)
c.4816G>T (p.Glu1606Ter)
c.1378G>T (p.Glu460Ter)
c.3557G>T
c.776G>T
c.4822G>T (p.Glu1608Ter)
c.4894G>T (p.Glu1632Ter)
c.2701G>T (p.Glu901Ter)
n.2800G>T
c.117G>T
c.*1603G>T (n.*1603G>T)
c.4927G>T (p.Glu1643Ter)
c.9+6274G>T (n.9+6274G>T)
n.1115G>T
n.4423G>T
c.914G>T
c.3768G>T
c.4783G>T (p.Glu1595Ter)
c.2892G>T
n.1713G>T
n.73G>T
n.61G>T
c.4840G>T (p.Glu1614Ter)
c.4906G>T (p.Glu1636Ter)
c.4888G>T (p.Glu1630Ter)
12g.6581110C>GCA383570263CHD4c.4804G>C (p.Glu1602Gln)
c.4843G>C (p.Glu1615Gln)
c.4918G>C (p.Glu1640Gln)
c.4769G>C
c.1094G>C
c.*507G>C (n.*507G>C)
c.4867G>C (p.Glu1623Gln)
c.4816G>C (p.Glu1606Gln)
c.1378G>C (p.Glu460Gln)
c.3557G>C
c.776G>C
c.4822G>C (p.Glu1608Gln)
c.4894G>C (p.Glu1632Gln)
c.2701G>C (p.Glu901Gln)
n.2800G>C
c.117G>C
c.*1603G>C (n.*1603G>C)
c.4927G>C (p.Glu1643Gln)
c.9+6274G>C (n.9+6274G>C)
n.1115G>C
n.4423G>C
c.914G>C
c.3768G>C
c.4783G>C (p.Glu1595Gln)
c.2892G>C
n.1713G>C
n.73G>C
n.61G>C
c.4840G>C (p.Glu1614Gln)
c.4906G>C (p.Glu1636Gln)
c.4888G>C (p.Glu1630Gln)
 gnomAD v4
12g.6581110C>TCA383570265CHD4c.4804G>A (p.Glu1602Lys)
c.4843G>A (p.Glu1615Lys)
c.4918G>A (p.Glu1640Lys)
c.4769G>A
c.1094G>A
c.*507G>A (n.*507G>A)
c.4867G>A (p.Glu1623Lys)
c.4816G>A (p.Glu1606Lys)
c.1378G>A (p.Glu460Lys)
c.3557G>A
c.776G>A
c.4822G>A (p.Glu1608Lys)
c.4894G>A (p.Glu1632Lys)
c.2701G>A (p.Glu901Lys)
n.2800G>A
c.117G>A
c.*1603G>A (n.*1603G>A)
c.4927G>A (p.Glu1643Lys)
c.9+6274G>A (n.9+6274G>A)
n.1115G>A
n.4423G>A
c.914G>A
c.3768G>A
c.4783G>A (p.Glu1595Lys)
c.2892G>A
n.1713G>A
n.73G>A
n.61G>A
c.4840G>A (p.Glu1614Lys)
c.4906G>A (p.Glu1636Lys)
c.4888G>A (p.Glu1630Lys)
12g.6581111T>ACA478509149CHD4c.4803A>T (p.Gly1601=)
c.4842A>T (p.Gly1614=)
c.4917A>T (p.Gly1639=)
c.4768A>T
c.1093A>T
c.*506A>T (n.*506A>T)
c.4866A>T (p.Gly1622=)
c.4815A>T (p.Gly1605=)
c.1377A>T (p.Gly459=)
c.3556A>T
c.775A>T
c.4821A>T (p.Gly1607=)
c.4893A>T (p.Gly1631=)
c.2700A>T (p.Gly900=)
n.2799A>T
c.116A>T
c.*1602A>T (n.*1602A>T)
c.4926A>T (p.Gly1642=)
c.9+6273A>T (n.9+6273A>T)
n.1114A>T
n.4422A>T
c.913A>T
c.3767A>T
c.4782A>T (p.Gly1594=)
c.2891A>T
n.1712A>T
n.72A>T
n.60A>T
c.4839A>T (p.Gly1613=)
c.4905A>T (p.Gly1635=)
c.4887A>T (p.Gly1629=)
 dbSNP gnomAD v2
12g.6581111T>CCA6411415CHD4c.4803A>G (p.Gly1601=)
c.4842A>G (p.Gly1614=)
c.4917A>G (p.Gly1639=)
c.4768A>G
c.1093A>G
c.*506A>G (n.*506A>G)
c.4866A>G (p.Gly1622=)
c.4815A>G (p.Gly1605=)
c.1377A>G (p.Gly459=)
c.3556A>G
c.775A>G
c.4821A>G (p.Gly1607=)
c.4893A>G (p.Gly1631=)
c.2700A>G (p.Gly900=)
n.2799A>G
c.116A>G
c.*1602A>G (n.*1602A>G)
c.4926A>G (p.Gly1642=)
c.9+6273A>G (n.9+6273A>G)
n.1114A>G
n.4422A>G
c.913A>G
c.3767A>G
c.4782A>G (p.Gly1594=)
c.2891A>G
n.1712A>G
n.72A>G
n.60A>G
c.4839A>G (p.Gly1613=)
c.4905A>G (p.Gly1635=)
c.4887A>G (p.Gly1629=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6581111T>GCA6411414CHD4c.4803A>C (p.Gly1601=)
c.4842A>C (p.Gly1614=)
c.4917A>C (p.Gly1639=)
c.4768A>C
c.1093A>C
c.*506A>C (n.*506A>C)
c.4866A>C (p.Gly1622=)
c.4815A>C (p.Gly1605=)
c.1377A>C (p.Gly459=)
c.3556A>C
c.775A>C
c.4821A>C (p.Gly1607=)
c.4893A>C (p.Gly1631=)
c.2700A>C (p.Gly900=)
n.2799A>C
c.116A>C
c.*1602A>C (n.*1602A>C)
c.4926A>C (p.Gly1642=)
c.9+6273A>C (n.9+6273A>C)
n.1114A>C
n.4422A>C
c.913A>C
c.3767A>C
c.4782A>C (p.Gly1594=)
c.2891A>C
n.1712A>C
n.72A>C
n.60A>C
c.4839A>C (p.Gly1613=)
c.4905A>C (p.Gly1635=)
c.4887A>C (p.Gly1629=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6581111T=CA2014144955CHD4c.4803A= (p.Gly1601=)
c.4842A= (p.Gly1614=)
c.4917A= (p.Gly1639=)
c.4768A=
c.1093A=
c.*506A= (n.*506A=)
c.4866A= (p.Gly1622=)
c.4815A= (p.Gly1605=)
c.1377A= (p.Gly459=)
c.3556A=
c.775A=
c.4821A= (p.Gly1607=)
c.4893A= (p.Gly1631=)
c.2700A= (p.Gly900=)
n.2799A=
c.116A=
c.*1602A= (n.*1602A=)
c.4926A= (p.Gly1642=)
c.9+6273A= (n.9+6273A=)
n.1114A=
n.4422A=
c.913A=
c.3767A=
c.4782A= (p.Gly1594=)
c.2891A=
n.1712A=
n.72A=
n.60A=
c.4839A= (p.Gly1613=)
c.4905A= (p.Gly1635=)
c.4887A= (p.Gly1629=)
12g.6581112C>ACA383570270CHD4c.4802G>T (p.Gly1601Val)
c.4841G>T (p.Gly1614Val)
c.4916G>T (p.Gly1639Val)
c.4767G>T
c.1092G>T
c.*505G>T (n.*505G>T)
c.4865G>T (p.Gly1622Val)
c.4814G>T (p.Gly1605Val)
c.1376G>T (p.Gly459Val)
c.3555G>T
c.774G>T
c.4820G>T (p.Gly1607Val)
c.4892G>T (p.Gly1631Val)
c.2699G>T (p.Gly900Val)
n.2798G>T
c.115G>T
c.*1601G>T (n.*1601G>T)
c.4925G>T (p.Gly1642Val)
c.9+6272G>T (n.9+6272G>T)
n.1113G>T
n.4421G>T
c.912G>T
c.3766G>T
c.4781G>T (p.Gly1594Val)
c.2890G>T
n.1711G>T
n.71G>T
n.59G>T
c.4838G>T (p.Gly1613Val)
c.4904G>T (p.Gly1635Val)
c.4886G>T (p.Gly1629Val)
 dbSNP gnomAD v3 gnomAD v4
12g.6581112C=CA2014144956CHD4c.4802G= (p.Gly1601=)
c.4841G= (p.Gly1614=)
c.4916G= (p.Gly1639=)
c.4767G=
c.1092G=
c.*505G= (n.*505G=)
c.4865G= (p.Gly1622=)
c.4814G= (p.Gly1605=)
c.1376G= (p.Gly459=)
c.3555G=
c.774G=
c.4820G= (p.Gly1607=)
c.4892G= (p.Gly1631=)
c.2699G= (p.Gly900=)
n.2798G=
c.115G=
c.*1601G= (n.*1601G=)
c.4925G= (p.Gly1642=)
c.9+6272G= (n.9+6272G=)
n.1113G=
n.4421G=
c.912G=
c.3766G=
c.4781G= (p.Gly1594=)
c.2890G=
n.1711G=
n.71G=
n.59G=
c.4838G= (p.Gly1613=)
c.4904G= (p.Gly1635=)
c.4886G= (p.Gly1629=)
12g.6581112C>GCA383570271CHD4c.4802G>C (p.Gly1601Ala)
c.4841G>C (p.Gly1614Ala)
c.4916G>C (p.Gly1639Ala)
c.4767G>C
c.1092G>C
c.*505G>C (n.*505G>C)
c.4865G>C (p.Gly1622Ala)
c.4814G>C (p.Gly1605Ala)
c.1376G>C (p.Gly459Ala)
c.3555G>C
c.774G>C
c.4820G>C (p.Gly1607Ala)
c.4892G>C (p.Gly1631Ala)
c.2699G>C (p.Gly900Ala)
n.2798G>C
c.115G>C
c.*1601G>C (n.*1601G>C)
c.4925G>C (p.Gly1642Ala)
c.9+6272G>C (n.9+6272G>C)
n.1113G>C
n.4421G>C
c.912G>C
c.3766G>C
c.4781G>C (p.Gly1594Ala)
c.2890G>C
n.1711G>C
n.71G>C
n.59G>C
c.4838G>C (p.Gly1613Ala)
c.4904G>C (p.Gly1635Ala)
c.4886G>C (p.Gly1629Ala)
 gnomAD v4
12g.6581112C>TCA383570273CHD4c.4802G>A (p.Gly1601Glu)
c.4841G>A (p.Gly1614Glu)
c.4916G>A (p.Gly1639Glu)
c.4767G>A
c.1092G>A
c.*505G>A (n.*505G>A)
c.4865G>A (p.Gly1622Glu)
c.4814G>A (p.Gly1605Glu)
c.1376G>A (p.Gly459Glu)
c.3555G>A
c.774G>A
c.4820G>A (p.Gly1607Glu)
c.4892G>A (p.Gly1631Glu)
c.2699G>A (p.Gly900Glu)
n.2798G>A
c.115G>A
c.*1601G>A (n.*1601G>A)
c.4925G>A (p.Gly1642Glu)
c.9+6272G>A (n.9+6272G>A)
n.1113G>A
n.4421G>A
c.912G>A
c.3766G>A
c.4781G>A (p.Gly1594Glu)
c.2890G>A
n.1711G>A
n.71G>A
n.59G>A
c.4838G>A (p.Gly1613Glu)
c.4904G>A (p.Gly1635Glu)
c.4886G>A (p.Gly1629Glu)
12g.6581113C>ACA383570277CHD4c.4801G>T (p.Gly1601Ter)
c.4840G>T (p.Gly1614Ter)
c.4915G>T (p.Gly1639Ter)
c.4766G>T
c.1091G>T
c.*504G>T (n.*504G>T)
c.4864G>T (p.Gly1622Ter)
c.4813G>T (p.Gly1605Ter)
c.1375G>T (p.Gly459Ter)
c.3554G>T
c.773G>T
c.4819G>T (p.Gly1607Ter)
c.4891G>T (p.Gly1631Ter)
c.2698G>T (p.Gly900Ter)
n.2797G>T
c.114G>T
c.*1600G>T (n.*1600G>T)
c.4924G>T (p.Gly1642Ter)
c.9+6271G>T (n.9+6271G>T)
n.1112G>T
n.4420G>T
c.911G>T
c.3765G>T
c.4780G>T (p.Gly1594Ter)
c.2889G>T
n.1710G>T
n.70G>T
n.58G>T
c.4837G>T (p.Gly1613Ter)
c.4903G>T (p.Gly1635Ter)
c.4885G>T (p.Gly1629Ter)
12g.6581113C=CA2014144957CHD4c.4801G= (p.Gly1601=)
c.4840G= (p.Gly1614=)
c.4915G= (p.Gly1639=)
c.4766G=
c.1091G=
c.*504G= (n.*504G=)
c.4864G= (p.Gly1622=)
c.4813G= (p.Gly1605=)
c.1375G= (p.Gly459=)
c.3554G=
c.773G=
c.4819G= (p.Gly1607=)
c.4891G= (p.Gly1631=)
c.2698G= (p.Gly900=)
n.2797G=
c.114G=
c.*1600G= (n.*1600G=)
c.4924G= (p.Gly1642=)
c.9+6271G= (n.9+6271G=)
n.1112G=
n.4420G=
c.911G=
c.3765G=
c.4780G= (p.Gly1594=)
c.2889G=
n.1710G=
n.70G=
n.58G=
c.4837G= (p.Gly1613=)
c.4903G= (p.Gly1635=)
c.4885G= (p.Gly1629=)
12g.6581113C>GCA383570279CHD4c.4801G>C (p.Gly1601Arg)
c.4840G>C (p.Gly1614Arg)
c.4915G>C (p.Gly1639Arg)
c.4766G>C
c.1091G>C
c.*504G>C (n.*504G>C)
c.4864G>C (p.Gly1622Arg)
c.4813G>C (p.Gly1605Arg)
c.1375G>C (p.Gly459Arg)
c.3554G>C
c.773G>C
c.4819G>C (p.Gly1607Arg)
c.4891G>C (p.Gly1631Arg)
c.2698G>C (p.Gly900Arg)
n.2797G>C
c.114G>C
c.*1600G>C (n.*1600G>C)
c.4924G>C (p.Gly1642Arg)
c.9+6271G>C (n.9+6271G>C)
n.1112G>C
n.4420G>C
c.911G>C
c.3765G>C
c.4780G>C (p.Gly1594Arg)
c.2889G>C
n.1710G>C
n.70G>C
n.58G>C
c.4837G>C (p.Gly1613Arg)
c.4903G>C (p.Gly1635Arg)
c.4885G>C (p.Gly1629Arg)
12g.6581113C>TCA6411416CHD4c.4801G>A (p.Gly1601Arg)
c.4840G>A (p.Gly1614Arg)
c.4915G>A (p.Gly1639Arg)
c.4766G>A
c.1091G>A
c.*504G>A (n.*504G>A)
c.4864G>A (p.Gly1622Arg)
c.4813G>A (p.Gly1605Arg)
c.1375G>A (p.Gly459Arg)
c.3554G>A
c.773G>A
c.4819G>A (p.Gly1607Arg)
c.4891G>A (p.Gly1631Arg)
c.2698G>A (p.Gly900Arg)
n.2797G>A
c.114G>A
c.*1600G>A (n.*1600G>A)
c.4924G>A (p.Gly1642Arg)
c.9+6271G>A (n.9+6271G>A)
n.1112G>A
n.4420G>A
c.911G>A
c.3765G>A
c.4780G>A (p.Gly1594Arg)
c.2889G>A
n.1710G>A
n.70G>A
n.58G>A
c.4837G>A (p.Gly1613Arg)
c.4903G>A (p.Gly1635Arg)
c.4885G>A (p.Gly1629Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.6581114C>ACA383570281CHD4c.4800G>T (p.Glu1600Asp)
c.4839G>T (p.Glu1613Asp)
c.4914G>T (p.Glu1638Asp)
c.4765G>T
c.1090G>T
c.*503G>T (n.*503G>T)
c.4863G>T (p.Glu1621Asp)
c.4812G>T (p.Glu1604Asp)
c.1374G>T (p.Glu458Asp)
c.3553G>T
c.772G>T
c.4818G>T (p.Glu1606Asp)
c.4890G>T (p.Glu1630Asp)
c.2697G>T (p.Glu899Asp)
n.2796G>T
c.113G>T
c.*1599G>T (n.*1599G>T)
c.4923G>T (p.Glu1641Asp)
c.9+6270G>T (n.9+6270G>T)
n.1111G>T
n.4419G>T
c.910G>T
c.3764G>T
c.4779G>T (p.Glu1593Asp)
c.2888G>T
n.1709G>T
n.69G>T
n.57G>T
c.4836G>T (p.Glu1612Asp)
c.4902G>T (p.Glu1634Asp)
c.4884G>T (p.Glu1628Asp)
12g.6581114C>GCA383570283CHD4c.4800G>C (p.Glu1600Asp)
c.4839G>C (p.Glu1613Asp)
c.4914G>C (p.Glu1638Asp)
c.4765G>C
c.1090G>C
c.*503G>C (n.*503G>C)
c.4863G>C (p.Glu1621Asp)
c.4812G>C (p.Glu1604Asp)
c.1374G>C (p.Glu458Asp)
c.3553G>C
c.772G>C
c.4818G>C (p.Glu1606Asp)
c.4890G>C (p.Glu1630Asp)
c.2697G>C (p.Glu899Asp)
n.2796G>C
c.113G>C
c.*1599G>C (n.*1599G>C)
c.4923G>C (p.Glu1641Asp)
c.9+6270G>C (n.9+6270G>C)
n.1111G>C
n.4419G>C
c.910G>C
c.3764G>C
c.4779G>C (p.Glu1593Asp)
c.2888G>C
n.1709G>C
n.69G>C
n.57G>C
c.4836G>C (p.Glu1612Asp)
c.4902G>C (p.Glu1634Asp)
c.4884G>C (p.Glu1628Asp)
12g.6581114C>TCA478509150CHD4c.4800G>A (p.Glu1600=)
c.4839G>A (p.Glu1613=)
c.4914G>A (p.Glu1638=)
c.4765G>A
c.1090G>A
c.*503G>A (n.*503G>A)
c.4863G>A (p.Glu1621=)
c.4812G>A (p.Glu1604=)
c.1374G>A (p.Glu458=)
c.3553G>A
c.772G>A
c.4818G>A (p.Glu1606=)
c.4890G>A (p.Glu1630=)
c.2697G>A (p.Glu899=)
n.2796G>A
c.113G>A
c.*1599G>A (n.*1599G>A)
c.4923G>A (p.Glu1641=)
c.9+6270G>A (n.9+6270G>A)
n.1111G>A
n.4419G>A
c.910G>A
c.3764G>A
c.4779G>A (p.Glu1593=)
c.2888G>A
n.1709G>A
n.69G>A
n.57G>A
c.4836G>A (p.Glu1612=)
c.4902G>A (p.Glu1634=)
c.4884G>A (p.Glu1628=)
 gnomAD v4
12g.6581115T>ACA383570285CHD4c.4799A>T (p.Glu1600Val)
c.4838A>T (p.Glu1613Val)
c.4913A>T (p.Glu1638Val)
c.4764A>T
c.1089A>T
c.*502A>T (n.*502A>T)
c.4862A>T (p.Glu1621Val)
c.4811A>T (p.Glu1604Val)
c.1373A>T (p.Glu458Val)
c.3552A>T
c.771A>T
c.4817A>T (p.Glu1606Val)
c.4889A>T (p.Glu1630Val)
c.2696A>T (p.Glu899Val)
n.2795A>T
c.112A>T
c.*1598A>T (n.*1598A>T)
c.4922A>T (p.Glu1641Val)
c.9+6269A>T (n.9+6269A>T)
n.1110A>T
n.4418A>T
c.909A>T
c.3763A>T
c.4778A>T (p.Glu1593Val)
c.2887A>T
n.1708A>T
n.68A>T
n.56A>T
c.4835A>T (p.Glu1612Val)
c.4901A>T (p.Glu1634Val)
c.4883A>T (p.Glu1628Val)
12g.6581115T>CCA383570286CHD4c.4799A>G (p.Glu1600Gly)
c.4838A>G (p.Glu1613Gly)
c.4913A>G (p.Glu1638Gly)
c.4764A>G
c.1089A>G
c.*502A>G (n.*502A>G)
c.4862A>G (p.Glu1621Gly)
c.4811A>G (p.Glu1604Gly)
c.1373A>G (p.Glu458Gly)
c.3552A>G
c.771A>G
c.4817A>G (p.Glu1606Gly)
c.4889A>G (p.Glu1630Gly)
c.2696A>G (p.Glu899Gly)
n.2795A>G
c.112A>G
c.*1598A>G (n.*1598A>G)
c.4922A>G (p.Glu1641Gly)
c.9+6269A>G (n.9+6269A>G)
n.1110A>G
n.4418A>G
c.909A>G
c.3763A>G
c.4778A>G (p.Glu1593Gly)
c.2887A>G
n.1708A>G
n.68A>G
n.56A>G
c.4835A>G (p.Glu1612Gly)
c.4901A>G (p.Glu1634Gly)
c.4883A>G (p.Glu1628Gly)
12g.6581115T>GCA383570288CHD4c.4799A>C (p.Glu1600Ala)
c.4838A>C (p.Glu1613Ala)
c.4913A>C (p.Glu1638Ala)
c.4764A>C
c.1089A>C
c.*502A>C (n.*502A>C)
c.4862A>C (p.Glu1621Ala)
c.4811A>C (p.Glu1604Ala)
c.1373A>C (p.Glu458Ala)
c.3552A>C
c.771A>C
c.4817A>C (p.Glu1606Ala)
c.4889A>C (p.Glu1630Ala)
c.2696A>C (p.Glu899Ala)
n.2795A>C
c.112A>C
c.*1598A>C (n.*1598A>C)
c.4922A>C (p.Glu1641Ala)
c.9+6269A>C (n.9+6269A>C)
n.1110A>C
n.4418A>C
c.909A>C
c.3763A>C
c.4778A>C (p.Glu1593Ala)
c.2887A>C
n.1708A>C
n.68A>C
n.56A>C
c.4835A>C (p.Glu1612Ala)
c.4901A>C (p.Glu1634Ala)
c.4883A>C (p.Glu1628Ala)
12g.6581116C>ACA383570293CHD4c.4798G>T (p.Glu1600Ter)
c.4837G>T (p.Glu1613Ter)
c.4912G>T (p.Glu1638Ter)
c.4763G>T
c.1088G>T
c.*501G>T (n.*501G>T)
c.4861G>T (p.Glu1621Ter)
c.4810G>T (p.Glu1604Ter)
c.1372G>T (p.Glu458Ter)
c.3551G>T
c.770G>T
c.4816G>T (p.Glu1606Ter)
c.4888G>T (p.Glu1630Ter)
c.2695G>T (p.Glu899Ter)
n.2794G>T
c.111G>T
c.*1597G>T (n.*1597G>T)
c.4921G>T (p.Glu1641Ter)
c.9+6268G>T (n.9+6268G>T)
n.1109G>T
n.4417G>T
c.908G>T
c.3762G>T
c.4777G>T (p.Glu1593Ter)
c.2886G>T
n.1707G>T
n.67G>T
n.55G>T
c.4834G>T (p.Glu1612Ter)
c.4900G>T (p.Glu1634Ter)
c.4882G>T (p.Glu1628Ter)
12g.6581116C>GCA383570291CHD4c.4798G>C (p.Glu1600Gln)
c.4837G>C (p.Glu1613Gln)
c.4912G>C (p.Glu1638Gln)
c.4763G>C
c.1088G>C
c.*501G>C (n.*501G>C)
c.4861G>C (p.Glu1621Gln)
c.4810G>C (p.Glu1604Gln)
c.1372G>C (p.Glu458Gln)
c.3551G>C
c.770G>C
c.4816G>C (p.Glu1606Gln)
c.4888G>C (p.Glu1630Gln)
c.2695G>C (p.Glu899Gln)
n.2794G>C
c.111G>C
c.*1597G>C (n.*1597G>C)
c.4921G>C (p.Glu1641Gln)
c.9+6268G>C (n.9+6268G>C)
n.1109G>C
n.4417G>C
c.908G>C
c.3762G>C
c.4777G>C (p.Glu1593Gln)
c.2886G>C
n.1707G>C
n.67G>C
n.55G>C
c.4834G>C (p.Glu1612Gln)
c.4900G>C (p.Glu1634Gln)
c.4882G>C (p.Glu1628Gln)
12g.6581116C>TCA383570290CHD4c.4798G>A (p.Glu1600Lys)
c.4837G>A (p.Glu1613Lys)
c.4912G>A (p.Glu1638Lys)
c.4763G>A
c.1088G>A
c.*501G>A (n.*501G>A)
c.4861G>A (p.Glu1621Lys)
c.4810G>A (p.Glu1604Lys)
c.1372G>A (p.Glu458Lys)
c.3551G>A
c.770G>A
c.4816G>A (p.Glu1606Lys)
c.4888G>A (p.Glu1630Lys)
c.2695G>A (p.Glu899Lys)
n.2794G>A
c.111G>A
c.*1597G>A (n.*1597G>A)
c.4921G>A (p.Glu1641Lys)
c.9+6268G>A (n.9+6268G>A)
n.1109G>A
n.4417G>A
c.908G>A
c.3762G>A
c.4777G>A (p.Glu1593Lys)
c.2886G>A
n.1707G>A
n.67G>A
n.55G>A
c.4834G>A (p.Glu1612Lys)
c.4900G>A (p.Glu1634Lys)
c.4882G>A (p.Glu1628Lys)
 gnomAD v4
12g.6581117A>CCA478509151CHD4c.4797T>G (p.Pro1599=)
c.4836T>G (p.Pro1612=)
c.4911T>G (p.Pro1637=)
c.4762T>G
c.1087T>G
c.*500T>G (n.*500T>G)
c.4860T>G (p.Pro1620=)
c.4809T>G (p.Pro1603=)
c.1371T>G (p.Pro457=)
c.3550T>G
c.769T>G
c.4815T>G (p.Pro1605=)
c.4887T>G (p.Pro1629=)
c.2694T>G (p.Pro898=)
n.2793T>G
c.110T>G
c.*1596T>G (n.*1596T>G)
c.4920T>G (p.Pro1640=)
c.9+6267T>G (n.9+6267T>G)
n.1108T>G
n.4416T>G
c.907T>G
c.3761T>G
c.4776T>G (p.Pro1592=)
c.2885T>G
n.1706T>G
n.66T>G
n.54T>G
c.4833T>G (p.Pro1611=)
c.4899T>G (p.Pro1633=)
c.4881T>G (p.Pro1627=)
12g.6581117A>GCA478509152CHD4c.4797T>C (p.Pro1599=)
c.4836T>C (p.Pro1612=)
c.4911T>C (p.Pro1637=)
c.4762T>C
c.1087T>C
c.*500T>C (n.*500T>C)
c.4860T>C (p.Pro1620=)
c.4809T>C (p.Pro1603=)
c.1371T>C (p.Pro457=)
c.3550T>C
c.769T>C
c.4815T>C (p.Pro1605=)
c.4887T>C (p.Pro1629=)
c.2694T>C (p.Pro898=)
n.2793T>C
c.110T>C
c.*1596T>C (n.*1596T>C)
c.4920T>C (p.Pro1640=)
c.9+6267T>C (n.9+6267T>C)
n.1108T>C
n.4416T>C
c.907T>C
c.3761T>C
c.4776T>C (p.Pro1592=)
c.2885T>C
n.1706T>C
n.66T>C
n.54T>C
c.4833T>C (p.Pro1611=)
c.4899T>C (p.Pro1633=)
c.4881T>C (p.Pro1627=)
12g.6581117A>TCA478509153CHD4c.4797T>A (p.Pro1599=)
c.4836T>A (p.Pro1612=)
c.4911T>A (p.Pro1637=)
c.4762T>A
c.1087T>A
c.*500T>A (n.*500T>A)
c.4860T>A (p.Pro1620=)
c.4809T>A (p.Pro1603=)
c.1371T>A (p.Pro457=)
c.3550T>A
c.769T>A
c.4815T>A (p.Pro1605=)
c.4887T>A (p.Pro1629=)
c.2694T>A (p.Pro898=)
n.2793T>A
c.110T>A
c.*1596T>A (n.*1596T>A)
c.4920T>A (p.Pro1640=)
c.9+6267T>A (n.9+6267T>A)
n.1108T>A
n.4416T>A
c.907T>A
c.3761T>A
c.4776T>A (p.Pro1592=)
c.2885T>A
n.1706T>A
n.66T>A
n.54T>A
c.4833T>A (p.Pro1611=)
c.4899T>A (p.Pro1633=)
c.4881T>A (p.Pro1627=)
12g.6581118G>ACA383570294CHD4c.4796C>T (p.Pro1599Leu)
c.4835C>T (p.Pro1612Leu)
c.4910C>T (p.Pro1637Leu)
c.4761C>T
c.1086C>T
c.*499C>T (n.*499C>T)
c.4859C>T (p.Pro1620Leu)
c.4808C>T (p.Pro1603Leu)
c.1370C>T (p.Pro457Leu)
c.3549C>T
c.768C>T
c.4814C>T (p.Pro1605Leu)
c.4886C>T (p.Pro1629Leu)
c.2693C>T (p.Pro898Leu)
n.2792C>T
c.109C>T
c.*1595C>T (n.*1595C>T)
c.4919C>T (p.Pro1640Leu)
c.9+6266C>T (n.9+6266C>T)
n.1107C>T
n.4415C>T
c.906C>T
c.3760C>T
c.4775C>T (p.Pro1592Leu)
c.2884C>T
n.1705C>T
n.65C>T
n.53C>T
c.4832C>T (p.Pro1611Leu)
c.4898C>T (p.Pro1633Leu)
c.4880C>T (p.Pro1627Leu)
 dbSNP gnomAD v3 gnomAD v4
12g.6581118G>CCA6411417CHD4c.4796C>G (p.Pro1599Arg)
c.4835C>G (p.Pro1612Arg)
c.4910C>G (p.Pro1637Arg)
c.4761C>G
c.1086C>G
c.*499C>G (n.*499C>G)
c.4859C>G (p.Pro1620Arg)
c.4808C>G (p.Pro1603Arg)
c.1370C>G (p.Pro457Arg)
c.3549C>G
c.768C>G
c.4814C>G (p.Pro1605Arg)
c.4886C>G (p.Pro1629Arg)
c.2693C>G (p.Pro898Arg)
n.2792C>G
c.109C>G
c.*1595C>G (n.*1595C>G)
c.4919C>G (p.Pro1640Arg)
c.9+6266C>G (n.9+6266C>G)
n.1107C>G
n.4415C>G
c.906C>G
c.3760C>G
c.4775C>G (p.Pro1592Arg)
c.2884C>G
n.1705C>G
n.65C>G
n.53C>G
c.4832C>G (p.Pro1611Arg)
c.4898C>G (p.Pro1633Arg)
c.4880C>G (p.Pro1627Arg)
 dbSNP ExAC gnomAD v2
12g.6581118G=CA2014144958CHD4c.4796C= (p.Pro1599=)
c.4835C= (p.Pro1612=)
c.4910C= (p.Pro1637=)
c.4761C=
c.1086C=
c.*499C= (n.*499C=)
c.4859C= (p.Pro1620=)
c.4808C= (p.Pro1603=)
c.1370C= (p.Pro457=)
c.3549C=
c.768C=
c.4814C= (p.Pro1605=)
c.4886C= (p.Pro1629=)
c.2693C= (p.Pro898=)
n.2792C=
c.109C=
c.*1595C= (n.*1595C=)
c.4919C= (p.Pro1640=)
c.9+6266C= (n.9+6266C=)
n.1107C=
n.4415C=
c.906C=
c.3760C=
c.4775C= (p.Pro1592=)
c.2884C=
n.1705C=
n.65C=
n.53C=
c.4832C= (p.Pro1611=)
c.4898C= (p.Pro1633=)
c.4880C= (p.Pro1627=)
12g.6581118G>TCA383570298CHD4c.4796C>A (p.Pro1599His)
c.4835C>A (p.Pro1612His)
c.4910C>A (p.Pro1637His)
c.4761C>A
c.1086C>A
c.*499C>A (n.*499C>A)
c.4859C>A (p.Pro1620His)
c.4808C>A (p.Pro1603His)
c.1370C>A (p.Pro457His)
c.3549C>A
c.768C>A
c.4814C>A (p.Pro1605His)
c.4886C>A (p.Pro1629His)
c.2693C>A (p.Pro898His)
n.2792C>A
c.109C>A
c.*1595C>A (n.*1595C>A)
c.4919C>A (p.Pro1640His)
c.9+6266C>A (n.9+6266C>A)
n.1107C>A
n.4415C>A
c.906C>A
c.3760C>A
c.4775C>A (p.Pro1592His)
c.2884C>A
n.1705C>A
n.65C>A
n.53C>A
c.4832C>A (p.Pro1611His)
c.4898C>A (p.Pro1633His)
c.4880C>A (p.Pro1627His)
12g.6581119G>ACA383570300CHD4c.4795C>T (p.Pro1599Ser)
c.4834C>T (p.Pro1612Ser)
c.4909C>T (p.Pro1637Ser)
c.4760C>T
c.1085C>T
c.*498C>T (n.*498C>T)
c.4858C>T (p.Pro1620Ser)
c.4807C>T (p.Pro1603Ser)
c.1369C>T (p.Pro457Ser)
c.3548C>T
c.767C>T
c.4813C>T (p.Pro1605Ser)
c.4885C>T (p.Pro1629Ser)
c.2692C>T (p.Pro898Ser)
n.2791C>T
c.108C>T
c.*1594C>T (n.*1594C>T)
c.4918C>T (p.Pro1640Ser)
c.9+6265C>T (n.9+6265C>T)
n.1106C>T
n.4414C>T
c.905C>T
c.3759C>T
c.4774C>T (p.Pro1592Ser)
c.2883C>T
n.1704C>T
n.64C>T
n.52C>T
c.4831C>T (p.Pro1611Ser)
c.4897C>T (p.Pro1633Ser)
c.4879C>T (p.Pro1627Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.6581119G>CCA383570302CHD4c.4795C>G (p.Pro1599Ala)
c.4834C>G (p.Pro1612Ala)
c.4909C>G (p.Pro1637Ala)
c.4760C>G
c.1085C>G
c.*498C>G (n.*498C>G)
c.4858C>G (p.Pro1620Ala)
c.4807C>G (p.Pro1603Ala)
c.1369C>G (p.Pro457Ala)
c.3548C>G
c.767C>G
c.4813C>G (p.Pro1605Ala)
c.4885C>G (p.Pro1629Ala)
c.2692C>G (p.Pro898Ala)
n.2791C>G
c.108C>G
c.*1594C>G (n.*1594C>G)
c.4918C>G (p.Pro1640Ala)
c.9+6265C>G (n.9+6265C>G)
n.1106C>G
n.4414C>G
c.905C>G
c.3759C>G
c.4774C>G (p.Pro1592Ala)
c.2883C>G
n.1704C>G
n.64C>G
n.52C>G
c.4831C>G (p.Pro1611Ala)
c.4897C>G (p.Pro1633Ala)
c.4879C>G (p.Pro1627Ala)
12g.6581119G=CA2014144959CHD4c.4795C= (p.Pro1599=)
c.4834C= (p.Pro1612=)
c.4909C= (p.Pro1637=)
c.4760C=
c.1085C=
c.*498C= (n.*498C=)
c.4858C= (p.Pro1620=)
c.4807C= (p.Pro1603=)
c.1369C= (p.Pro457=)
c.3548C=
c.767C=
c.4813C= (p.Pro1605=)
c.4885C= (p.Pro1629=)
c.2692C= (p.Pro898=)
n.2791C=
c.108C=
c.*1594C= (n.*1594C=)
c.4918C= (p.Pro1640=)
c.9+6265C= (n.9+6265C=)
n.1106C=
n.4414C=
c.905C=
c.3759C=
c.4774C= (p.Pro1592=)
c.2883C=
n.1704C=
n.64C=
n.52C=
c.4831C= (p.Pro1611=)
c.4897C= (p.Pro1633=)
c.4879C= (p.Pro1627=)
12g.6581119G>TCA383570304CHD4c.4795C>A (p.Pro1599Thr)
c.4834C>A (p.Pro1612Thr)
c.4909C>A (p.Pro1637Thr)
c.4760C>A
c.1085C>A
c.*498C>A (n.*498C>A)
c.4858C>A (p.Pro1620Thr)
c.4807C>A (p.Pro1603Thr)
c.1369C>A (p.Pro457Thr)
c.3548C>A
c.767C>A
c.4813C>A (p.Pro1605Thr)
c.4885C>A (p.Pro1629Thr)
c.2692C>A (p.Pro898Thr)
n.2791C>A
c.108C>A
c.*1594C>A (n.*1594C>A)
c.4918C>A (p.Pro1640Thr)
c.9+6265C>A (n.9+6265C>A)
n.1106C>A
n.4414C>A
c.905C>A
c.3759C>A
c.4774C>A (p.Pro1592Thr)
c.2883C>A
n.1704C>A
n.64C>A
n.52C>A
c.4831C>A (p.Pro1611Thr)
c.4897C>A (p.Pro1633Thr)
c.4879C>A (p.Pro1627Thr)
12g.6581119_6581120delinsAACA645570888CHD4c.4794_4795delinsTT (p.Pro1599Ser)
c.4833_4834delinsTT (p.Pro1612Ser)
c.4908_4909delinsTT (p.Pro1637Ser)
c.4759_4760delinsTT
c.1084_1085delinsTT
c.*497_*498delinsTT (n.*497_*498delinsTT)
c.4857_4858delinsTT (p.Pro1620Ser)
c.4806_4807delinsTT (p.Pro1603Ser)
c.1368_1369delinsTT (p.Pro457Ser)
c.3547_3548delinsTT
c.766_767delinsTT
c.4812_4813delinsTT (p.Pro1605Ser)
c.4884_4885delinsTT (p.Pro1629Ser)
c.2691_2692delinsTT (p.Pro898Ser)
n.2790_2791delinsTT
c.107_108delinsTT
c.*1593_*1594delinsTT (n.*1593_*1594delinsTT)
c.4917_4918delinsTT (p.Pro1640Ser)
c.9+6264_9+6265delinsTT (n.9+6264_9+6265delinsTT)
n.1105_1106delinsTT
n.4413_4414delinsTT
c.904_905delinsTT
c.3758_3759delinsTT
c.4773_4774delinsTT (p.Pro1592Ser)
c.2882_2883delinsTT
n.1703_1704delinsTT
n.63_64delinsTT
n.51_52delinsTT
c.4830_4831delinsTT (p.Pro1611Ser)
c.4896_4897delinsTT (p.Pro1633Ser)
c.4878_4879delinsTT (p.Pro1627Ser)
 COSMIC COSMIC COSMIC
12g.6581120G>ACA478509154CHD4c.4794C>T (p.Pro1598=)
c.4833C>T (p.Pro1611=)
c.4908C>T (p.Pro1636=)
c.4759C>T
c.1084C>T
c.*497C>T (n.*497C>T)
c.4857C>T (p.Pro1619=)
c.4806C>T (p.Pro1602=)
c.1368C>T (p.Pro456=)
c.3547C>T
c.766C>T
c.4812C>T (p.Pro1604=)
c.4884C>T (p.Pro1628=)
c.2691C>T (p.Pro897=)
n.2790C>T
c.107C>T
c.*1593C>T (n.*1593C>T)
c.4917C>T (p.Pro1639=)
c.9+6264C>T (n.9+6264C>T)
n.1105C>T
n.4413C>T
c.904C>T
c.3758C>T
c.4773C>T (p.Pro1591=)
c.2882C>T
n.1703C>T
n.63C>T
n.51C>T
c.4830C>T (p.Pro1610=)
c.4896C>T (p.Pro1632=)
c.4878C>T (p.Pro1626=)
 dbSNP
12g.6581120G>CCA478509155CHD4c.4794C>G (p.Pro1598=)
c.4833C>G (p.Pro1611=)
c.4908C>G (p.Pro1636=)
c.4759C>G
c.1084C>G
c.*497C>G (n.*497C>G)
c.4857C>G (p.Pro1619=)
c.4806C>G (p.Pro1602=)
c.1368C>G (p.Pro456=)
c.3547C>G
c.766C>G
c.4812C>G (p.Pro1604=)
c.4884C>G (p.Pro1628=)
c.2691C>G (p.Pro897=)
n.2790C>G
c.107C>G
c.*1593C>G (n.*1593C>G)
c.4917C>G (p.Pro1639=)
c.9+6264C>G (n.9+6264C>G)
n.1105C>G
n.4413C>G
c.904C>G
c.3758C>G
c.4773C>G (p.Pro1591=)
c.2882C>G
n.1703C>G
n.63C>G
n.51C>G
c.4830C>G (p.Pro1610=)
c.4896C>G (p.Pro1632=)
c.4878C>G (p.Pro1626=)
12g.6581120G=CA2014144960CHD4c.4794C= (p.Pro1598=)
c.4833C= (p.Pro1611=)
c.4908C= (p.Pro1636=)
c.4759C=
c.1084C=
c.*497C= (n.*497C=)
c.4857C= (p.Pro1619=)
c.4806C= (p.Pro1602=)
c.1368C= (p.Pro456=)
c.3547C=
c.766C=
c.4812C= (p.Pro1604=)
c.4884C= (p.Pro1628=)
c.2691C= (p.Pro897=)
n.2790C=
c.107C=
c.*1593C= (n.*1593C=)
c.4917C= (p.Pro1639=)
c.9+6264C= (n.9+6264C=)
n.1105C=
n.4413C=
c.904C=
c.3758C=
c.4773C= (p.Pro1591=)
c.2882C=
n.1703C=
n.63C=
n.51C=
c.4830C= (p.Pro1610=)
c.4896C= (p.Pro1632=)
c.4878C= (p.Pro1626=)
12g.6581120G>TCA478509156CHD4c.4794C>A (p.Pro1598=)
c.4833C>A (p.Pro1611=)
c.4908C>A (p.Pro1636=)
c.4759C>A
c.1084C>A
c.*497C>A (n.*497C>A)
c.4857C>A (p.Pro1619=)
c.4806C>A (p.Pro1602=)
c.1368C>A (p.Pro456=)
c.3547C>A
c.766C>A
c.4812C>A (p.Pro1604=)
c.4884C>A (p.Pro1628=)
c.2691C>A (p.Pro897=)
n.2790C>A
c.107C>A
c.*1593C>A (n.*1593C>A)
c.4917C>A (p.Pro1639=)
c.9+6264C>A (n.9+6264C>A)
n.1105C>A
n.4413C>A
c.904C>A
c.3758C>A
c.4773C>A (p.Pro1591=)
c.2882C>A
n.1703C>A
n.63C>A
n.51C>A
c.4830C>A (p.Pro1610=)
c.4896C>A (p.Pro1632=)
c.4878C>A (p.Pro1626=)
12g.6581121G>ACA232386641CHD4c.4793C>T (p.Pro1598Leu)
c.4832C>T (p.Pro1611Leu)
c.4907C>T (p.Pro1636Leu)
c.4758C>T
c.1083C>T
c.*496C>T (n.*496C>T)
c.4856C>T (p.Pro1619Leu)
c.4805C>T (p.Pro1602Leu)
c.1367C>T (p.Pro456Leu)
c.3546C>T
c.765C>T
c.4811C>T (p.Pro1604Leu)
c.4883C>T (p.Pro1628Leu)
c.2690C>T (p.Pro897Leu)
n.2789C>T
c.106C>T
c.*1592C>T (n.*1592C>T)
c.4916C>T (p.Pro1639Leu)
c.9+6263C>T (n.9+6263C>T)
n.1104C>T
n.4412C>T
c.903C>T
c.3757C>T
c.4772C>T (p.Pro1591Leu)
c.2881C>T
n.1702C>T
n.62C>T
n.50C>T
c.4829C>T (p.Pro1610Leu)
c.4895C>T (p.Pro1632Leu)
c.4877C>T (p.Pro1626Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6581121G>CCA383570309CHD4c.4793C>G (p.Pro1598Arg)
c.4832C>G (p.Pro1611Arg)
c.4907C>G (p.Pro1636Arg)
c.4758C>G
c.1083C>G
c.*496C>G (n.*496C>G)
c.4856C>G (p.Pro1619Arg)
c.4805C>G (p.Pro1602Arg)
c.1367C>G (p.Pro456Arg)
c.3546C>G
c.765C>G
c.4811C>G (p.Pro1604Arg)
c.4883C>G (p.Pro1628Arg)
c.2690C>G (p.Pro897Arg)
n.2789C>G
c.106C>G
c.*1592C>G (n.*1592C>G)
c.4916C>G (p.Pro1639Arg)
c.9+6263C>G (n.9+6263C>G)
n.1104C>G
n.4412C>G
c.903C>G
c.3757C>G
c.4772C>G (p.Pro1591Arg)
c.2881C>G
n.1702C>G
n.62C>G
n.50C>G
c.4829C>G (p.Pro1610Arg)
c.4895C>G (p.Pro1632Arg)
c.4877C>G (p.Pro1626Arg)
12g.6581121G=CA2014144961CHD4c.4793C= (p.Pro1598=)
c.4832C= (p.Pro1611=)
c.4907C= (p.Pro1636=)
c.4758C=
c.1083C=
c.*496C= (n.*496C=)
c.4856C= (p.Pro1619=)
c.4805C= (p.Pro1602=)
c.1367C= (p.Pro456=)
c.3546C=
c.765C=
c.4811C= (p.Pro1604=)
c.4883C= (p.Pro1628=)
c.2690C= (p.Pro897=)
n.2789C=
c.106C=
c.*1592C= (n.*1592C=)
c.4916C= (p.Pro1639=)
c.9+6263C= (n.9+6263C=)
n.1104C=
n.4412C=
c.903C=
c.3757C=
c.4772C= (p.Pro1591=)
c.2881C=
n.1702C=
n.62C=
n.50C=
c.4829C= (p.Pro1610=)
c.4895C= (p.Pro1632=)
c.4877C= (p.Pro1626=)
12g.6581121G>TCA383570312CHD4c.4793C>A (p.Pro1598His)
c.4832C>A (p.Pro1611His)
c.4907C>A (p.Pro1636His)
c.4758C>A
c.1083C>A
c.*496C>A (n.*496C>A)
c.4856C>A (p.Pro1619His)
c.4805C>A (p.Pro1602His)
c.1367C>A (p.Pro456His)
c.3546C>A
c.765C>A
c.4811C>A (p.Pro1604His)
c.4883C>A (p.Pro1628His)
c.2690C>A (p.Pro897His)
n.2789C>A
c.106C>A
c.*1592C>A (n.*1592C>A)
c.4916C>A (p.Pro1639His)
c.9+6263C>A (n.9+6263C>A)
n.1104C>A
n.4412C>A
c.903C>A
c.3757C>A
c.4772C>A (p.Pro1591His)
c.2881C>A
n.1702C>A
n.62C>A
n.50C>A
c.4829C>A (p.Pro1610His)
c.4895C>A (p.Pro1632His)
c.4877C>A (p.Pro1626His)
12g.6581122G>ACA6411418CHD4c.4792C>T (p.Pro1598Ser)
c.4831C>T (p.Pro1611Ser)
c.4906C>T (p.Pro1636Ser)
c.4757C>T
c.1082C>T
c.*495C>T (n.*495C>T)
c.4855C>T (p.Pro1619Ser)
c.4804C>T (p.Pro1602Ser)
c.1366C>T (p.Pro456Ser)
c.3545C>T
c.764C>T
c.4810C>T (p.Pro1604Ser)
c.4882C>T (p.Pro1628Ser)
c.2689C>T (p.Pro897Ser)
n.2788C>T
c.105C>T
c.*1591C>T (n.*1591C>T)
c.4915C>T (p.Pro1639Ser)
c.9+6262C>T (n.9+6262C>T)
n.1103C>T
n.4411C>T
c.902C>T
c.3756C>T
c.4771C>T (p.Pro1591Ser)
c.2880C>T
n.1701C>T
n.61C>T
n.49C>T
c.4828C>T (p.Pro1610Ser)
c.4894C>T (p.Pro1632Ser)
c.4876C>T (p.Pro1626Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.6581122G>CCA383570322CHD4c.4792C>G (p.Pro1598Ala)
c.4831C>G (p.Pro1611Ala)
c.4906C>G (p.Pro1636Ala)
c.4757C>G
c.1082C>G
c.*495C>G (n.*495C>G)
c.4855C>G (p.Pro1619Ala)
c.4804C>G (p.Pro1602Ala)
c.1366C>G (p.Pro456Ala)
c.3545C>G
c.764C>G
c.4810C>G (p.Pro1604Ala)
c.4882C>G (p.Pro1628Ala)
c.2689C>G (p.Pro897Ala)
n.2788C>G
c.105C>G
c.*1591C>G (n.*1591C>G)
c.4915C>G (p.Pro1639Ala)
c.9+6262C>G (n.9+6262C>G)
n.1103C>G
n.4411C>G
c.902C>G
c.3756C>G
c.4771C>G (p.Pro1591Ala)
c.2880C>G
n.1701C>G
n.61C>G
n.49C>G
c.4828C>G (p.Pro1610Ala)
c.4894C>G (p.Pro1632Ala)
c.4876C>G (p.Pro1626Ala)
12g.6581122G=CA2014144962CHD4c.4792C= (p.Pro1598=)
c.4831C= (p.Pro1611=)
c.4906C= (p.Pro1636=)
c.4757C=
c.1082C=
c.*495C= (n.*495C=)
c.4855C= (p.Pro1619=)
c.4804C= (p.Pro1602=)
c.1366C= (p.Pro456=)
c.3545C=
c.764C=
c.4810C= (p.Pro1604=)
c.4882C= (p.Pro1628=)
c.2689C= (p.Pro897=)
n.2788C=
c.105C=
c.*1591C= (n.*1591C=)
c.4915C= (p.Pro1639=)
c.9+6262C= (n.9+6262C=)
n.1103C=
n.4411C=
c.902C=
c.3756C=
c.4771C= (p.Pro1591=)
c.2880C=
n.1701C=
n.61C=
n.49C=
c.4828C= (p.Pro1610=)
c.4894C= (p.Pro1632=)
c.4876C= (p.Pro1626=)
12g.6581122G>TCA383570326CHD4c.4792C>A (p.Pro1598Thr)
c.4831C>A (p.Pro1611Thr)
c.4906C>A (p.Pro1636Thr)
c.4757C>A
c.1082C>A
c.*495C>A (n.*495C>A)
c.4855C>A (p.Pro1619Thr)
c.4804C>A (p.Pro1602Thr)
c.1366C>A (p.Pro456Thr)
c.3545C>A
c.764C>A
c.4810C>A (p.Pro1604Thr)
c.4882C>A (p.Pro1628Thr)
c.2689C>A (p.Pro897Thr)
n.2788C>A
c.105C>A
c.*1591C>A (n.*1591C>A)
c.4915C>A (p.Pro1639Thr)
c.9+6262C>A (n.9+6262C>A)
n.1103C>A
n.4411C>A
c.902C>A
c.3756C>A
c.4771C>A (p.Pro1591Thr)
c.2880C>A
n.1701C>A
n.61C>A
n.49C>A
c.4828C>A (p.Pro1610Thr)
c.4894C>A (p.Pro1632Thr)
c.4876C>A (p.Pro1626Thr)
 dbSNP gnomAD v3 gnomAD v4
12g.6581123T>ACA383570329CHD4c.4791A>T (p.Glu1597Asp)
c.4830A>T (p.Glu1610Asp)
c.4905A>T (p.Glu1635Asp)
c.4756A>T
c.1081A>T
c.*494A>T (n.*494A>T)
c.4854A>T (p.Glu1618Asp)
c.4803A>T (p.Glu1601Asp)
c.1365A>T (p.Glu455Asp)
c.3544A>T
c.763A>T
c.4809A>T (p.Glu1603Asp)
c.4881A>T (p.Glu1627Asp)
c.2688A>T (p.Glu896Asp)
n.2787A>T
c.104A>T
c.*1590A>T (n.*1590A>T)
c.4914A>T (p.Glu1638Asp)
c.9+6261A>T (n.9+6261A>T)
n.1102A>T
n.4410A>T
c.901A>T
c.3755A>T
c.4770A>T (p.Glu1590Asp)
c.2879A>T
n.1700A>T
n.60A>T
n.48A>T
c.4827A>T (p.Glu1609Asp)
c.4893A>T (p.Glu1631Asp)
c.4875A>T (p.Glu1625Asp)
12g.6581123T>CCA478509157CHD4c.4791A>G (p.Glu1597=)
c.4830A>G (p.Glu1610=)
c.4905A>G (p.Glu1635=)
c.4756A>G
c.1081A>G
c.*494A>G (n.*494A>G)
c.4854A>G (p.Glu1618=)
c.4803A>G (p.Glu1601=)
c.1365A>G (p.Glu455=)
c.3544A>G
c.763A>G
c.4809A>G (p.Glu1603=)
c.4881A>G (p.Glu1627=)
c.2688A>G (p.Glu896=)
n.2787A>G
c.104A>G
c.*1590A>G (n.*1590A>G)
c.4914A>G (p.Glu1638=)
c.9+6261A>G (n.9+6261A>G)
n.1102A>G
n.4410A>G
c.901A>G
c.3755A>G
c.4770A>G (p.Glu1590=)
c.2879A>G
n.1700A>G
n.60A>G
n.48A>G
c.4827A>G (p.Glu1609=)
c.4893A>G (p.Glu1631=)
c.4875A>G (p.Glu1625=)
12g.6581123T>GCA383570332CHD4c.4791A>C (p.Glu1597Asp)
c.4830A>C (p.Glu1610Asp)
c.4905A>C (p.Glu1635Asp)
c.4756A>C
c.1081A>C
c.*494A>C (n.*494A>C)
c.4854A>C (p.Glu1618Asp)
c.4803A>C (p.Glu1601Asp)
c.1365A>C (p.Glu455Asp)
c.3544A>C
c.763A>C
c.4809A>C (p.Glu1603Asp)
c.4881A>C (p.Glu1627Asp)
c.2688A>C (p.Glu896Asp)
n.2787A>C
c.104A>C
c.*1590A>C (n.*1590A>C)
c.4914A>C (p.Glu1638Asp)
c.9+6261A>C (n.9+6261A>C)
n.1102A>C
n.4410A>C
c.901A>C
c.3755A>C
c.4770A>C (p.Glu1590Asp)
c.2879A>C
n.1700A>C
n.60A>C
n.48A>C
c.4827A>C (p.Glu1609Asp)
c.4893A>C (p.Glu1631Asp)
c.4875A>C (p.Glu1625Asp)
12g.6581124T>ACA383570343CHD4c.4790A>T (p.Glu1597Val)
c.4829A>T (p.Glu1610Val)
c.4904A>T (p.Glu1635Val)
c.4755A>T
c.1080A>T
c.*493A>T (n.*493A>T)
c.4853A>T (p.Glu1618Val)
c.4802A>T (p.Glu1601Val)
c.1364A>T (p.Glu455Val)
c.3543A>T
c.762A>T
c.4808A>T (p.Glu1603Val)
c.4880A>T (p.Glu1627Val)
c.2687A>T (p.Glu896Val)
n.2786A>T
c.103A>T
c.*1589A>T (n.*1589A>T)
c.4913A>T (p.Glu1638Val)
c.9+6260A>T (n.9+6260A>T)
n.1101A>T
n.4409A>T
c.900A>T
c.3754A>T
c.4769A>T (p.Glu1590Val)
c.2878A>T
n.1699A>T
n.59A>T
n.47A>T
c.4826A>T (p.Glu1609Val)
c.4892A>T (p.Glu1631Val)
c.4874A>T (p.Glu1625Val)
12g.6581124T>CCA383570341CHD4c.4790A>G (p.Glu1597Gly)
c.4829A>G (p.Glu1610Gly)
c.4904A>G (p.Glu1635Gly)
c.4755A>G
c.1080A>G
c.*493A>G (n.*493A>G)
c.4853A>G (p.Glu1618Gly)
c.4802A>G (p.Glu1601Gly)
c.1364A>G (p.Glu455Gly)
c.3543A>G
c.762A>G
c.4808A>G (p.Glu1603Gly)
c.4880A>G (p.Glu1627Gly)
c.2687A>G (p.Glu896Gly)
n.2786A>G
c.103A>G
c.*1589A>G (n.*1589A>G)
c.4913A>G (p.Glu1638Gly)
c.9+6260A>G (n.9+6260A>G)
n.1101A>G
n.4409A>G
c.900A>G
c.3754A>G
c.4769A>G (p.Glu1590Gly)
c.2878A>G
n.1699A>G
n.59A>G
n.47A>G
c.4826A>G (p.Glu1609Gly)
c.4892A>G (p.Glu1631Gly)
c.4874A>G (p.Glu1625Gly)
12g.6581124T>GCA383570337CHD4c.4790A>C (p.Glu1597Ala)
c.4829A>C (p.Glu1610Ala)
c.4904A>C (p.Glu1635Ala)
c.4755A>C
c.1080A>C
c.*493A>C (n.*493A>C)
c.4853A>C (p.Glu1618Ala)
c.4802A>C (p.Glu1601Ala)
c.1364A>C (p.Glu455Ala)
c.3543A>C
c.762A>C
c.4808A>C (p.Glu1603Ala)
c.4880A>C (p.Glu1627Ala)
c.2687A>C (p.Glu896Ala)
n.2786A>C
c.103A>C
c.*1589A>C (n.*1589A>C)
c.4913A>C (p.Glu1638Ala)
c.9+6260A>C (n.9+6260A>C)
n.1101A>C
n.4409A>C
c.900A>C
c.3754A>C
c.4769A>C (p.Glu1590Ala)
c.2878A>C
n.1699A>C
n.59A>C
n.47A>C
c.4826A>C (p.Glu1609Ala)
c.4892A>C (p.Glu1631Ala)
c.4874A>C (p.Glu1625Ala)
12g.6581124_6581127delinsTCAACA2014144963CHD4c.4787_4790delinsTTGA (p.Val1596=)
c.4826_4829delinsTTGA (p.Val1609=)
c.4901_4904delinsTTGA (p.Val1634=)
c.4752_4755delinsTTGA
c.1077_1080delinsTTGA
c.*490_*493delinsTTGA (n.*490_*493delinsTTGA)
c.4850_4853delinsTTGA (p.Val1617=)
c.4799_4802delinsTTGA (p.Val1600=)
c.1361_1364delinsTTGA (p.Val454=)
c.3540_3543delinsTTGA
c.759_762delinsTTGA
c.4805_4808delinsTTGA (p.Val1602=)
c.4877_4880delinsTTGA (p.Val1626=)
c.2684_2687delinsTTGA (p.Val895=)
n.2783_2786delinsTTGA
c.100_103delinsTTGA
c.*1586_*1589delinsTTGA (n.*1586_*1589delinsTTGA)
c.4910_4913delinsTTGA (p.Val1637=)
c.9+6257_9+6260delinsTTGA (n.9+6257_9+6260delinsTTGA)
n.1098_1101delinsTTGA
n.4406_4409delinsTTGA
c.897_900delinsTTGA
c.3751_3754delinsTTGA
c.4766_4769delinsTTGA (p.Val1589=)
c.2875_2878delinsTTGA
n.1696_1699delinsTTGA
n.56_59delinsTTGA
n.44_47delinsTTGA
c.4823_4826delinsTTGA (p.Val1608=)
c.4889_4892delinsTTGA (p.Val1630=)
c.4871_4874delinsTTGA (p.Val1624=)
12g.6581125C>ACA383570352CHD4c.4789G>T (p.Glu1597Ter)
c.4828G>T (p.Glu1610Ter)
c.4903G>T (p.Glu1635Ter)
c.4754G>T
c.1079G>T
c.*492G>T (n.*492G>T)
c.4852G>T (p.Glu1618Ter)
c.4801G>T (p.Glu1601Ter)
c.1363G>T (p.Glu455Ter)
c.3542G>T
c.761G>T
c.4807G>T (p.Glu1603Ter)
c.4879G>T (p.Glu1627Ter)
c.2686G>T (p.Glu896Ter)
n.2785G>T
c.102G>T
c.*1588G>T (n.*1588G>T)
c.4912G>T (p.Glu1638Ter)
c.9+6259G>T (n.9+6259G>T)
n.1100G>T
n.4408G>T
c.899G>T
c.3753G>T
c.4768G>T (p.Glu1590Ter)
c.2877G>T
n.1698G>T
n.58G>T
n.46G>T
c.4825G>T (p.Glu1609Ter)
c.4891G>T (p.Glu1631Ter)
c.4873G>T (p.Glu1625Ter)
12g.6581125C>GCA383570354CHD4c.4789G>C (p.Glu1597Gln)
c.4828G>C (p.Glu1610Gln)
c.4903G>C (p.Glu1635Gln)
c.4754G>C
c.1079G>C
c.*492G>C (n.*492G>C)
c.4852G>C (p.Glu1618Gln)
c.4801G>C (p.Glu1601Gln)
c.1363G>C (p.Glu455Gln)
c.3542G>C
c.761G>C
c.4807G>C (p.Glu1603Gln)
c.4879G>C (p.Glu1627Gln)
c.2686G>C (p.Glu896Gln)
n.2785G>C
c.102G>C
c.*1588G>C (n.*1588G>C)
c.4912G>C (p.Glu1638Gln)
c.9+6259G>C (n.9+6259G>C)
n.1100G>C
n.4408G>C
c.899G>C
c.3753G>C
c.4768G>C (p.Glu1590Gln)
c.2877G>C
n.1698G>C
n.58G>C
n.46G>C
c.4825G>C (p.Glu1609Gln)
c.4891G>C (p.Glu1631Gln)
c.4873G>C (p.Glu1625Gln)
12g.6581125C>TCA383570356CHD4c.4789G>A (p.Glu1597Lys)
c.4828G>A (p.Glu1610Lys)
c.4903G>A (p.Glu1635Lys)
c.4754G>A
c.1079G>A
c.*492G>A (n.*492G>A)
c.4852G>A (p.Glu1618Lys)
c.4801G>A (p.Glu1601Lys)
c.1363G>A (p.Glu455Lys)
c.3542G>A
c.761G>A
c.4807G>A (p.Glu1603Lys)
c.4879G>A (p.Glu1627Lys)
c.2686G>A (p.Glu896Lys)
n.2785G>A
c.102G>A
c.*1588G>A (n.*1588G>A)
c.4912G>A (p.Glu1638Lys)
c.9+6259G>A (n.9+6259G>A)
n.1100G>A
n.4408G>A
c.899G>A
c.3753G>A
c.4768G>A (p.Glu1590Lys)
c.2877G>A
n.1698G>A
n.58G>A
n.46G>A
c.4825G>A (p.Glu1609Lys)
c.4891G>A (p.Glu1631Lys)
c.4873G>A (p.Glu1625Lys)
 COSMIC COSMIC COSMIC
12g.6581129_6581131delCA690976434CHD4c.4787_4789del (p.Val1596del)
c.4826_4828del (p.Val1609del)
c.4901_4903del (p.Val1634del)
c.4752_4754del
c.1077_1079del
c.*490_*492del (n.*490_*492del)
c.4850_4852del (p.Val1617del)
c.4799_4801del (p.Val1600del)
c.1361_1363del (p.Val454del)
c.3540_3542del
c.759_761del
c.4805_4807del (p.Val1602del)
c.4877_4879del (p.Val1626del)
c.2684_2686del (p.Val895del)
n.2783_2785del
c.100_102del
c.*1586_*1588del (n.*1586_*1588del)
c.4910_4912del (p.Val1637del)
c.9+6257_9+6259del (n.9+6257_9+6259del)
n.1098_1100del
n.4406_4408del
c.897_899del
c.3751_3753del
c.4766_4768del (p.Val1589del)
c.2875_2877del
n.1696_1698del
n.56_58del
n.44_46del
c.4823_4825del (p.Val1608del)
c.4889_4891del (p.Val1630del)
c.4871_4873del (p.Val1624del)
 dbSNP gnomAD v3 gnomAD v4
12g.6581126A=CA2014144964CHD4c.4788T= (p.Val1596=)
c.4827T= (p.Val1609=)
c.4902T= (p.Val1634=)
c.4753T=
c.1078T=
c.*491T= (n.*491T=)
c.4851T= (p.Val1617=)
c.4800T= (p.Val1600=)
c.1362T= (p.Val454=)
c.3541T=
c.760T=
c.4806T= (p.Val1602=)
c.4878T= (p.Val1626=)
c.2685T= (p.Val895=)
n.2784T=
c.101T=
c.*1587T= (n.*1587T=)
c.4911T= (p.Val1637=)
c.9+6258T= (n.9+6258T=)
n.1099T=
n.4407T=
c.898T=
c.3752T=
c.4767T= (p.Val1589=)
c.2876T=
n.1697T=
n.57T=
n.45T=
c.4824T= (p.Val1608=)
c.4890T= (p.Val1630=)
c.4872T= (p.Val1624=)
12g.6581126A>CCA478509158CHD4c.4788T>G (p.Val1596=)
c.4827T>G (p.Val1609=)
c.4902T>G (p.Val1634=)
c.4753T>G
c.1078T>G
c.*491T>G (n.*491T>G)
c.4851T>G (p.Val1617=)
c.4800T>G (p.Val1600=)
c.1362T>G (p.Val454=)
c.3541T>G
c.760T>G
c.4806T>G (p.Val1602=)
c.4878T>G (p.Val1626=)
c.2685T>G (p.Val895=)
n.2784T>G
c.101T>G
c.*1587T>G (n.*1587T>G)
c.4911T>G (p.Val1637=)
c.9+6258T>G (n.9+6258T>G)
n.1099T>G
n.4407T>G
c.898T>G
c.3752T>G
c.4767T>G (p.Val1589=)
c.2876T>G
n.1697T>G
n.57T>G
n.45T>G
c.4824T>G (p.Val1608=)
c.4890T>G (p.Val1630=)
c.4872T>G (p.Val1624=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6581126A>GCA478509159CHD4c.4788T>C (p.Val1596=)
c.4827T>C (p.Val1609=)
c.4902T>C (p.Val1634=)
c.4753T>C
c.1078T>C
c.*491T>C (n.*491T>C)
c.4851T>C (p.Val1617=)
c.4800T>C (p.Val1600=)
c.1362T>C (p.Val454=)
c.3541T>C
c.760T>C
c.4806T>C (p.Val1602=)
c.4878T>C (p.Val1626=)
c.2685T>C (p.Val895=)
n.2784T>C
c.101T>C
c.*1587T>C (n.*1587T>C)
c.4911T>C (p.Val1637=)
c.9+6258T>C (n.9+6258T>C)
n.1099T>C
n.4407T>C
c.898T>C
c.3752T>C
c.4767T>C (p.Val1589=)
c.2876T>C
n.1697T>C
n.57T>C
n.45T>C
c.4824T>C (p.Val1608=)
c.4890T>C (p.Val1630=)
c.4872T>C (p.Val1624=)
12g.6581126A>TCA478509160CHD4c.4788T>A (p.Val1596=)
c.4827T>A (p.Val1609=)
c.4902T>A (p.Val1634=)
c.4753T>A
c.1078T>A
c.*491T>A (n.*491T>A)
c.4851T>A (p.Val1617=)
c.4800T>A (p.Val1600=)
c.1362T>A (p.Val454=)
c.3541T>A
c.760T>A
c.4806T>A (p.Val1602=)
c.4878T>A (p.Val1626=)
c.2685T>A (p.Val895=)
n.2784T>A
c.101T>A
c.*1587T>A (n.*1587T>A)
c.4911T>A (p.Val1637=)
c.9+6258T>A (n.9+6258T>A)
n.1099T>A
n.4407T>A
c.898T>A
c.3752T>A
c.4767T>A (p.Val1589=)
c.2876T>A
n.1697T>A
n.57T>A
n.45T>A
c.4824T>A (p.Val1608=)
c.4890T>A (p.Val1630=)
c.4872T>A (p.Val1624=)
12g.6581127A>CCA383570360CHD4c.4787T>G (p.Val1596Gly)
c.4826T>G (p.Val1609Gly)
c.4901T>G (p.Val1634Gly)
c.4752T>G
c.1077T>G
c.*490T>G (n.*490T>G)
c.4850T>G (p.Val1617Gly)
c.4799T>G (p.Val1600Gly)
c.1361T>G (p.Val454Gly)
c.3540T>G
c.759T>G
c.4805T>G (p.Val1602Gly)
c.4877T>G (p.Val1626Gly)
c.2684T>G (p.Val895Gly)
n.2783T>G
c.100T>G
c.*1586T>G (n.*1586T>G)
c.4910T>G (p.Val1637Gly)
c.9+6257T>G (n.9+6257T>G)
n.1098T>G
n.4406T>G
c.897T>G
c.3751T>G
c.4766T>G (p.Val1589Gly)
c.2875T>G
n.1696T>G
n.56T>G
n.44T>G
c.4823T>G (p.Val1608Gly)
c.4889T>G (p.Val1630Gly)
c.4871T>G (p.Val1624Gly)
12g.6581127A>GCA383570364CHD4c.4787T>C (p.Val1596Ala)
c.4826T>C (p.Val1609Ala)
c.4901T>C (p.Val1634Ala)
c.4752T>C
c.1077T>C
c.*490T>C (n.*490T>C)
c.4850T>C (p.Val1617Ala)
c.4799T>C (p.Val1600Ala)
c.1361T>C (p.Val454Ala)
c.3540T>C
c.759T>C
c.4805T>C (p.Val1602Ala)
c.4877T>C (p.Val1626Ala)
c.2684T>C (p.Val895Ala)
n.2783T>C
c.100T>C
c.*1586T>C (n.*1586T>C)
c.4910T>C (p.Val1637Ala)
c.9+6257T>C (n.9+6257T>C)
n.1098T>C
n.4406T>C
c.897T>C
c.3751T>C
c.4766T>C (p.Val1589Ala)
c.2875T>C
n.1696T>C
n.56T>C
n.44T>C
c.4823T>C (p.Val1608Ala)
c.4889T>C (p.Val1630Ala)
c.4871T>C (p.Val1624Ala)
 gnomAD v4
12g.6581127A>TCA383570366CHD4c.4787T>A (p.Val1596Asp)
c.4826T>A (p.Val1609Asp)
c.4901T>A (p.Val1634Asp)
c.4752T>A
c.1077T>A
c.*490T>A (n.*490T>A)
c.4850T>A (p.Val1617Asp)
c.4799T>A (p.Val1600Asp)
c.1361T>A (p.Val454Asp)
c.3540T>A
c.759T>A
c.4805T>A (p.Val1602Asp)
c.4877T>A (p.Val1626Asp)
c.2684T>A (p.Val895Asp)
n.2783T>A
c.100T>A
c.*1586T>A (n.*1586T>A)
c.4910T>A (p.Val1637Asp)
c.9+6257T>A (n.9+6257T>A)
n.1098T>A
n.4406T>A
c.897T>A
c.3751T>A
c.4766T>A (p.Val1589Asp)
c.2875T>A
n.1696T>A
n.56T>A
n.44T>A
c.4823T>A (p.Val1608Asp)
c.4889T>A (p.Val1630Asp)
c.4871T>A (p.Val1624Asp)
12g.6581128C>ACA383570376CHD4c.4786G>T (p.Val1596Phe)
c.4825G>T (p.Val1609Phe)
c.4900G>T (p.Val1634Phe)
c.4751G>T
c.1076G>T
c.*489G>T (n.*489G>T)
c.4849G>T (p.Val1617Phe)
c.4798G>T (p.Val1600Phe)
c.1360G>T (p.Val454Phe)
c.3539G>T
c.758G>T
c.4804G>T (p.Val1602Phe)
c.4876G>T (p.Val1626Phe)
c.2683G>T (p.Val895Phe)
n.2782G>T
c.99G>T
c.*1585G>T (n.*1585G>T)
c.4909G>T (p.Val1637Phe)
c.9+6256G>T (n.9+6256G>T)
n.1097G>T
n.4405G>T
c.896G>T
c.3750G>T
c.4765G>T (p.Val1589Phe)
c.2874G>T
n.1695G>T
n.55G>T
n.43G>T
c.4822G>T (p.Val1608Phe)
c.4888G>T (p.Val1630Phe)
c.4870G>T (p.Val1624Phe)
12g.6581128C>GCA383570383CHD4c.4786G>C (p.Val1596Leu)
c.4825G>C (p.Val1609Leu)
c.4900G>C (p.Val1634Leu)
c.4751G>C
c.1076G>C
c.*489G>C (n.*489G>C)
c.4849G>C (p.Val1617Leu)
c.4798G>C (p.Val1600Leu)
c.1360G>C (p.Val454Leu)
c.3539G>C
c.758G>C
c.4804G>C (p.Val1602Leu)
c.4876G>C (p.Val1626Leu)
c.2683G>C (p.Val895Leu)
n.2782G>C
c.99G>C
c.*1585G>C (n.*1585G>C)
c.4909G>C (p.Val1637Leu)
c.9+6256G>C (n.9+6256G>C)
n.1097G>C
n.4405G>C
c.896G>C
c.3750G>C
c.4765G>C (p.Val1589Leu)
c.2874G>C
n.1695G>C
n.55G>C
n.43G>C
c.4822G>C (p.Val1608Leu)
c.4888G>C (p.Val1630Leu)
c.4870G>C (p.Val1624Leu)
12g.6581128C>TCA383570380CHD4c.4786G>A (p.Val1596Ile)
c.4825G>A (p.Val1609Ile)
c.4900G>A (p.Val1634Ile)
c.4751G>A
c.1076G>A
c.*489G>A (n.*489G>A)
c.4849G>A (p.Val1617Ile)
c.4798G>A (p.Val1600Ile)
c.1360G>A (p.Val454Ile)
c.3539G>A
c.758G>A
c.4804G>A (p.Val1602Ile)
c.4876G>A (p.Val1626Ile)
c.2683G>A (p.Val895Ile)
n.2782G>A
c.99G>A
c.*1585G>A (n.*1585G>A)
c.4909G>A (p.Val1637Ile)
c.9+6256G>A (n.9+6256G>A)
n.1097G>A
n.4405G>A
c.896G>A
c.3750G>A
c.4765G>A (p.Val1589Ile)
c.2874G>A
n.1695G>A
n.55G>A
n.43G>A
c.4822G>A (p.Val1608Ile)
c.4888G>A (p.Val1630Ile)
c.4870G>A (p.Val1624Ile)
12g.6581129A=CA2014144965CHD4c.4785T= (p.Val1595=)
c.4824T= (p.Val1608=)
c.4899T= (p.Val1633=)
c.4750T=
c.1075T=
c.*488T= (n.*488T=)
c.4848T= (p.Val1616=)
c.4797T= (p.Val1599=)
c.1359T= (p.Val453=)
c.3538T=
c.757T=
c.4803T= (p.Val1601=)
c.4875T= (p.Val1625=)
c.2682T= (p.Val894=)
n.2781T=
c.98T=
c.*1584T= (n.*1584T=)
c.4908T= (p.Val1636=)
c.9+6255T= (n.9+6255T=)
n.1096T=
n.4404T=
c.895T=
c.3749T=
c.4764T= (p.Val1588=)
c.2873T=
n.1694T=
n.54T=
n.42T=
c.4821T= (p.Val1607=)
c.4887T= (p.Val1629=)
c.4869T= (p.Val1623=)
12g.6581129A>CCA478509162CHD4c.4785T>G (p.Val1595=)
c.4824T>G (p.Val1608=)
c.4899T>G (p.Val1633=)
c.4750T>G
c.1075T>G
c.*488T>G (n.*488T>G)
c.4848T>G (p.Val1616=)
c.4797T>G (p.Val1599=)
c.1359T>G (p.Val453=)
c.3538T>G
c.757T>G
c.4803T>G (p.Val1601=)
c.4875T>G (p.Val1625=)
c.2682T>G (p.Val894=)
n.2781T>G
c.98T>G
c.*1584T>G (n.*1584T>G)
c.4908T>G (p.Val1636=)
c.9+6255T>G (n.9+6255T>G)
n.1096T>G
n.4404T>G
c.895T>G
c.3749T>G
c.4764T>G (p.Val1588=)
c.2873T>G
n.1694T>G
n.54T>G
n.42T>G
c.4821T>G (p.Val1607=)
c.4887T>G (p.Val1629=)
c.4869T>G (p.Val1623=)
12g.6581129A>GCA232386645CHD4c.4785T>C (p.Val1595=)
c.4824T>C (p.Val1608=)
c.4899T>C (p.Val1633=)
c.4750T>C
c.1075T>C
c.*488T>C (n.*488T>C)
c.4848T>C (p.Val1616=)
c.4797T>C (p.Val1599=)
c.1359T>C (p.Val453=)
c.3538T>C
c.757T>C
c.4803T>C (p.Val1601=)
c.4875T>C (p.Val1625=)
c.2682T>C (p.Val894=)
n.2781T>C
c.98T>C
c.*1584T>C (n.*1584T>C)
c.4908T>C (p.Val1636=)
c.9+6255T>C (n.9+6255T>C)
n.1096T>C
n.4404T>C
c.895T>C
c.3749T>C
c.4764T>C (p.Val1588=)
c.2873T>C
n.1694T>C
n.54T>C
n.42T>C
c.4821T>C (p.Val1607=)
c.4887T>C (p.Val1629=)
c.4869T>C (p.Val1623=)
 dbSNP gnomAD v3 gnomAD v4
12g.6581129A>TCA478509161CHD4c.4785T>A (p.Val1595=)
c.4824T>A (p.Val1608=)
c.4899T>A (p.Val1633=)
c.4750T>A
c.1075T>A
c.*488T>A (n.*488T>A)
c.4848T>A (p.Val1616=)
c.4797T>A (p.Val1599=)
c.1359T>A (p.Val453=)
c.3538T>A
c.757T>A
c.4803T>A (p.Val1601=)
c.4875T>A (p.Val1625=)
c.2682T>A (p.Val894=)
n.2781T>A
c.98T>A
c.*1584T>A (n.*1584T>A)
c.4908T>A (p.Val1636=)
c.9+6255T>A (n.9+6255T>A)
n.1096T>A
n.4404T>A
c.895T>A
c.3749T>A
c.4764T>A (p.Val1588=)
c.2873T>A
n.1694T>A
n.54T>A
n.42T>A
c.4821T>A (p.Val1607=)
c.4887T>A (p.Val1629=)
c.4869T>A (p.Val1623=)
 gnomAD v4
12g.6581130A>CCA383570389CHD4c.4784T>G (p.Val1595Gly)
c.4823T>G (p.Val1608Gly)
c.4898T>G (p.Val1633Gly)
c.4749T>G
c.1074T>G
c.*487T>G (n.*487T>G)
c.4847T>G (p.Val1616Gly)
c.4796T>G (p.Val1599Gly)
c.1358T>G (p.Val453Gly)
c.3537T>G
c.756T>G
c.4802T>G (p.Val1601Gly)
c.4874T>G (p.Val1625Gly)
c.2681T>G (p.Val894Gly)
n.2780T>G
c.97T>G
c.*1583T>G (n.*1583T>G)
c.4907T>G (p.Val1636Gly)
c.9+6254T>G (n.9+6254T>G)
n.1095T>G
n.4403T>G
c.894T>G
c.3748T>G
c.4763T>G (p.Val1588Gly)
c.2872T>G
n.1693T>G
n.53T>G
n.41T>G
c.4820T>G (p.Val1607Gly)
c.4886T>G (p.Val1629Gly)
c.4868T>G (p.Val1623Gly)
12g.6581130A>GCA383570393CHD4c.4784T>C (p.Val1595Ala)
c.4823T>C (p.Val1608Ala)
c.4898T>C (p.Val1633Ala)
c.4749T>C
c.1074T>C
c.*487T>C (n.*487T>C)
c.4847T>C (p.Val1616Ala)
c.4796T>C (p.Val1599Ala)
c.1358T>C (p.Val453Ala)
c.3537T>C
c.756T>C
c.4802T>C (p.Val1601Ala)
c.4874T>C (p.Val1625Ala)
c.2681T>C (p.Val894Ala)
n.2780T>C
c.97T>C
c.*1583T>C (n.*1583T>C)
c.4907T>C (p.Val1636Ala)
c.9+6254T>C (n.9+6254T>C)
n.1095T>C
n.4403T>C
c.894T>C
c.3748T>C
c.4763T>C (p.Val1588Ala)
c.2872T>C
n.1693T>C
n.53T>C
n.41T>C
c.4820T>C (p.Val1607Ala)
c.4886T>C (p.Val1629Ala)
c.4868T>C (p.Val1623Ala)
12g.6581130A>TCA383570397CHD4c.4784T>A (p.Val1595Asp)
c.4823T>A (p.Val1608Asp)
c.4898T>A (p.Val1633Asp)
c.4749T>A
c.1074T>A
c.*487T>A (n.*487T>A)
c.4847T>A (p.Val1616Asp)
c.4796T>A (p.Val1599Asp)
c.1358T>A (p.Val453Asp)
c.3537T>A
c.756T>A
c.4802T>A (p.Val1601Asp)
c.4874T>A (p.Val1625Asp)
c.2681T>A (p.Val894Asp)
n.2780T>A
c.97T>A
c.*1583T>A (n.*1583T>A)
c.4907T>A (p.Val1636Asp)
c.9+6254T>A (n.9+6254T>A)
n.1095T>A
n.4403T>A
c.894T>A
c.3748T>A
c.4763T>A (p.Val1588Asp)
c.2872T>A
n.1693T>A
n.53T>A
n.41T>A
c.4820T>A (p.Val1607Asp)
c.4886T>A (p.Val1629Asp)
c.4868T>A (p.Val1623Asp)
12g.6581131C>ACA383570399CHD4c.4783G>T (p.Val1595Phe)
c.4822G>T (p.Val1608Phe)
c.4897G>T (p.Val1633Phe)
c.4748G>T
c.1073G>T
c.*486G>T (n.*486G>T)
c.4846G>T (p.Val1616Phe)
c.4795G>T (p.Val1599Phe)
c.1357G>T (p.Val453Phe)
c.3536G>T
c.755G>T
c.4801G>T (p.Val1601Phe)
c.4873G>T (p.Val1625Phe)
c.2680G>T (p.Val894Phe)
n.2779G>T
c.96G>T
c.*1582G>T (n.*1582G>T)
c.4906G>T (p.Val1636Phe)
c.9+6253G>T (n.9+6253G>T)
n.1094G>T
n.4402G>T
c.893G>T
c.3747G>T
c.4762G>T (p.Val1588Phe)
c.2871G>T
n.1692G>T
n.52G>T
n.40G>T
c.4819G>T (p.Val1607Phe)
c.4885G>T (p.Val1629Phe)
c.4867G>T (p.Val1623Phe)
12g.6581131C=CA2014144966CHD4c.4783G= (p.Val1595=)
c.4822G= (p.Val1608=)
c.4897G= (p.Val1633=)
c.4748G=
c.1073G=
c.*486G= (n.*486G=)
c.4846G= (p.Val1616=)
c.4795G= (p.Val1599=)
c.1357G= (p.Val453=)
c.3536G=
c.755G=
c.4801G= (p.Val1601=)
c.4873G= (p.Val1625=)
c.2680G= (p.Val894=)
n.2779G=
c.96G=
c.*1582G= (n.*1582G=)
c.4906G= (p.Val1636=)
c.9+6253G= (n.9+6253G=)
n.1094G=
n.4402G=
c.893G=
c.3747G=
c.4762G= (p.Val1588=)
c.2871G=
n.1692G=
n.52G=
n.40G=
c.4819G= (p.Val1607=)
c.4885G= (p.Val1629=)
c.4867G= (p.Val1623=)
12g.6581131C>GCA383570401CHD4c.4783G>C (p.Val1595Leu)
c.4822G>C (p.Val1608Leu)
c.4897G>C (p.Val1633Leu)
c.4748G>C
c.1073G>C
c.*486G>C (n.*486G>C)
c.4846G>C (p.Val1616Leu)
c.4795G>C (p.Val1599Leu)
c.1357G>C (p.Val453Leu)
c.3536G>C
c.755G>C
c.4801G>C (p.Val1601Leu)
c.4873G>C (p.Val1625Leu)
c.2680G>C (p.Val894Leu)
n.2779G>C
c.96G>C
c.*1582G>C (n.*1582G>C)
c.4906G>C (p.Val1636Leu)
c.9+6253G>C (n.9+6253G>C)
n.1094G>C
n.4402G>C
c.893G>C
c.3747G>C
c.4762G>C (p.Val1588Leu)
c.2871G>C
n.1692G>C
n.52G>C
n.40G>C
c.4819G>C (p.Val1607Leu)
c.4885G>C (p.Val1629Leu)
c.4867G>C (p.Val1623Leu)
 dbSNP gnomAD v4
12g.6581131C>TCA6411419CHD4c.4783G>A (p.Val1595Ile)
c.4822G>A (p.Val1608Ile)
c.4897G>A (p.Val1633Ile)
c.4748G>A
c.1073G>A
c.*486G>A (n.*486G>A)
c.4846G>A (p.Val1616Ile)
c.4795G>A (p.Val1599Ile)
c.1357G>A (p.Val453Ile)
c.3536G>A
c.755G>A
c.4801G>A (p.Val1601Ile)
c.4873G>A (p.Val1625Ile)
c.2680G>A (p.Val894Ile)
n.2779G>A
c.96G>A
c.*1582G>A (n.*1582G>A)
c.4906G>A (p.Val1636Ile)
c.9+6253G>A (n.9+6253G>A)
n.1094G>A
n.4402G>A
c.893G>A
c.3747G>A
c.4762G>A (p.Val1588Ile)
c.2871G>A
n.1692G>A
n.52G>A
n.40G>A
c.4819G>A (p.Val1607Ile)
c.4885G>A (p.Val1629Ile)
c.4867G>A (p.Val1623Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched