Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.137813378C=CA1884685858EHMT1c.3036-8C= (n.3036-8C=)
c.2922-8C= (n.2922-8C=)
c.2943-8C= (n.2943-8C=)
c.3076-8C= (n.3076-8C=)
c.930-8C= (n.930-8C=)
c.1893-8C= (n.1893-8C=)
c.723-8C=
n.562-8C=
c.3027-8C= (n.3027-8C=)
c.3018-8C= (n.3018-8C=)
c.3045-8C= (n.3045-8C=)
c.3042-8C= (n.3042-8C=)
c.3024-8C= (n.3024-8C=)
c.2967-8C= (n.2967-8C=)
c.2901-8C= (n.2901-8C=)
c.1467-8C= (n.1467-8C=)
c.819-8C= (n.819-8C=)
c.606-8C= (n.606-8C=)
c.2880-8C= (n.2880-8C=)
c.3015-8C= (n.3015-8C=)
c.3021-8C= (n.3021-8C=)
c.2937-8C= (n.2937-8C=)
c.2865-8C= (n.2865-8C=)
c.2799-8C= (n.2799-8C=)
c.2160-8C= (n.2160-8C=)
c.2778-8C= (n.2778-8C=)
9g.137813378C>TCA1884685859EHMT1c.3036-8C>T (n.3036-8C>T)
c.2922-8C>T (n.2922-8C>T)
c.2943-8C>T (n.2943-8C>T)
c.3076-8C>T (n.3076-8C>T)
c.930-8C>T (n.930-8C>T)
c.1893-8C>T (n.1893-8C>T)
c.723-8C>T
n.562-8C>T
c.3027-8C>T (n.3027-8C>T)
c.3018-8C>T (n.3018-8C>T)
c.3045-8C>T (n.3045-8C>T)
c.3042-8C>T (n.3042-8C>T)
c.3024-8C>T (n.3024-8C>T)
c.2967-8C>T (n.2967-8C>T)
c.2901-8C>T (n.2901-8C>T)
c.1467-8C>T (n.1467-8C>T)
c.819-8C>T (n.819-8C>T)
c.606-8C>T (n.606-8C>T)
c.2880-8C>T (n.2880-8C>T)
c.3015-8C>T (n.3015-8C>T)
c.3021-8C>T (n.3021-8C>T)
c.2937-8C>T (n.2937-8C>T)
c.2865-8C>T (n.2865-8C>T)
c.2799-8C>T (n.2799-8C>T)
c.2160-8C>T (n.2160-8C>T)
c.2778-8C>T (n.2778-8C>T)
 dbSNP gnomAD v4
9g.137813379A=CA1884685860EHMT1c.3036-7A= (n.3036-7A=)
c.2922-7A= (n.2922-7A=)
c.2943-7A= (n.2943-7A=)
c.3076-7A= (n.3076-7A=)
c.930-7A= (n.930-7A=)
c.1893-7A= (n.1893-7A=)
c.723-7A=
n.562-7A=
c.3027-7A= (n.3027-7A=)
c.3018-7A= (n.3018-7A=)
c.3045-7A= (n.3045-7A=)
c.3042-7A= (n.3042-7A=)
c.3024-7A= (n.3024-7A=)
c.2967-7A= (n.2967-7A=)
c.2901-7A= (n.2901-7A=)
c.1467-7A= (n.1467-7A=)
c.819-7A= (n.819-7A=)
c.606-7A= (n.606-7A=)
c.2880-7A= (n.2880-7A=)
c.3015-7A= (n.3015-7A=)
c.3021-7A= (n.3021-7A=)
c.2937-7A= (n.2937-7A=)
c.2865-7A= (n.2865-7A=)
c.2799-7A= (n.2799-7A=)
c.2160-7A= (n.2160-7A=)
c.2778-7A= (n.2778-7A=)
9g.137813379A>GCA591375869EHMT1c.3036-7A>G (n.3036-7A>G)
c.2922-7A>G (n.2922-7A>G)
c.2943-7A>G (n.2943-7A>G)
c.3076-7A>G (n.3076-7A>G)
c.930-7A>G (n.930-7A>G)
c.1893-7A>G (n.1893-7A>G)
c.723-7A>G
n.562-7A>G
c.3027-7A>G (n.3027-7A>G)
c.3018-7A>G (n.3018-7A>G)
c.3045-7A>G (n.3045-7A>G)
c.3042-7A>G (n.3042-7A>G)
c.3024-7A>G (n.3024-7A>G)
c.2967-7A>G (n.2967-7A>G)
c.2901-7A>G (n.2901-7A>G)
c.1467-7A>G (n.1467-7A>G)
c.819-7A>G (n.819-7A>G)
c.606-7A>G (n.606-7A>G)
c.2880-7A>G (n.2880-7A>G)
c.3015-7A>G (n.3015-7A>G)
c.3021-7A>G (n.3021-7A>G)
c.2937-7A>G (n.2937-7A>G)
c.2865-7A>G (n.2865-7A>G)
c.2799-7A>G (n.2799-7A>G)
c.2160-7A>G (n.2160-7A>G)
c.2778-7A>G (n.2778-7A>G)
 dbSNP gnomAD v2 gnomAD v4
9g.137813380T>CCA2579536511EHMT1c.3036-6T>C (n.3036-6T>C)
c.2922-6T>C (n.2922-6T>C)
c.2943-6T>C (n.2943-6T>C)
c.3076-6T>C (n.3076-6T>C)
c.930-6T>C (n.930-6T>C)
c.1893-6T>C (n.1893-6T>C)
c.723-6T>C
n.562-6T>C
c.3027-6T>C (n.3027-6T>C)
c.3018-6T>C (n.3018-6T>C)
c.3045-6T>C (n.3045-6T>C)
c.3042-6T>C (n.3042-6T>C)
c.3024-6T>C (n.3024-6T>C)
c.2967-6T>C (n.2967-6T>C)
c.2901-6T>C (n.2901-6T>C)
c.1467-6T>C (n.1467-6T>C)
c.819-6T>C (n.819-6T>C)
c.606-6T>C (n.606-6T>C)
c.2880-6T>C (n.2880-6T>C)
c.3015-6T>C (n.3015-6T>C)
c.3021-6T>C (n.3021-6T>C)
c.2937-6T>C (n.2937-6T>C)
c.2865-6T>C (n.2865-6T>C)
c.2799-6T>C (n.2799-6T>C)
c.2160-6T>C (n.2160-6T>C)
c.2778-6T>C (n.2778-6T>C)
 gnomAD v4
9g.137813382G>ACA2573144349EHMT1c.3036-4G>A (n.3036-4G>A)
c.2922-4G>A (n.2922-4G>A)
c.2943-4G>A (n.2943-4G>A)
c.3076-4G>A (n.3076-4G>A)
c.930-4G>A (n.930-4G>A)
c.1893-4G>A (n.1893-4G>A)
c.723-4G>A
n.562-4G>A
c.3027-4G>A (n.3027-4G>A)
c.3018-4G>A (n.3018-4G>A)
c.3045-4G>A (n.3045-4G>A)
c.3042-4G>A (n.3042-4G>A)
c.3024-4G>A (n.3024-4G>A)
c.2967-4G>A (n.2967-4G>A)
c.2901-4G>A (n.2901-4G>A)
c.1467-4G>A (n.1467-4G>A)
c.819-4G>A (n.819-4G>A)
c.606-4G>A (n.606-4G>A)
c.2880-4G>A (n.2880-4G>A)
c.3015-4G>A (n.3015-4G>A)
c.3021-4G>A (n.3021-4G>A)
c.2937-4G>A (n.2937-4G>A)
c.2865-4G>A (n.2865-4G>A)
c.2799-4G>A (n.2799-4G>A)
c.2160-4G>A (n.2160-4G>A)
c.2778-4G>A (n.2778-4G>A)
 ClinVar dbSNP gnomAD v4
9g.137813383C>ACA2692890795EHMT1c.3036-3C>A (n.3036-3C>A)
c.2922-3C>A (n.2922-3C>A)
c.2943-3C>A (n.2943-3C>A)
c.3076-3C>A (n.3076-3C>A)
c.930-3C>A (n.930-3C>A)
c.1893-3C>A (n.1893-3C>A)
c.723-3C>A
n.562-3C>A
c.3027-3C>A (n.3027-3C>A)
c.3018-3C>A (n.3018-3C>A)
c.3045-3C>A (n.3045-3C>A)
c.3042-3C>A (n.3042-3C>A)
c.3024-3C>A (n.3024-3C>A)
c.2967-3C>A (n.2967-3C>A)
c.2901-3C>A (n.2901-3C>A)
c.1467-3C>A (n.1467-3C>A)
c.819-3C>A (n.819-3C>A)
c.606-3C>A (n.606-3C>A)
c.2880-3C>A (n.2880-3C>A)
c.3015-3C>A (n.3015-3C>A)
c.3021-3C>A (n.3021-3C>A)
c.2937-3C>A (n.2937-3C>A)
c.2865-3C>A (n.2865-3C>A)
c.2799-3C>A (n.2799-3C>A)
c.2160-3C>A (n.2160-3C>A)
c.2778-3C>A (n.2778-3C>A)
 gnomAD v4
9g.137813383C>TCA2692890796EHMT1c.3036-3C>T (n.3036-3C>T)
c.2922-3C>T (n.2922-3C>T)
c.2943-3C>T (n.2943-3C>T)
c.3076-3C>T (n.3076-3C>T)
c.930-3C>T (n.930-3C>T)
c.1893-3C>T (n.1893-3C>T)
c.723-3C>T
n.562-3C>T
c.3027-3C>T (n.3027-3C>T)
c.3018-3C>T (n.3018-3C>T)
c.3045-3C>T (n.3045-3C>T)
c.3042-3C>T (n.3042-3C>T)
c.3024-3C>T (n.3024-3C>T)
c.2967-3C>T (n.2967-3C>T)
c.2901-3C>T (n.2901-3C>T)
c.1467-3C>T (n.1467-3C>T)
c.819-3C>T (n.819-3C>T)
c.606-3C>T (n.606-3C>T)
c.2880-3C>T (n.2880-3C>T)
c.3015-3C>T (n.3015-3C>T)
c.3021-3C>T (n.3021-3C>T)
c.2937-3C>T (n.2937-3C>T)
c.2865-3C>T (n.2865-3C>T)
c.2799-3C>T (n.2799-3C>T)
c.2160-3C>T (n.2160-3C>T)
c.2778-3C>T (n.2778-3C>T)
 gnomAD v4
9g.137813384A>CCA375793775EHMT1c.3036-2A>C (n.3036-2A>C)
c.2922-2A>C (n.2922-2A>C)
c.2943-2A>C (n.2943-2A>C)
c.3076-2A>C (n.3076-2A>C)
c.930-2A>C (n.930-2A>C)
c.1893-2A>C (n.1893-2A>C)
c.723-2A>C
n.562-2A>C
c.3027-2A>C (n.3027-2A>C)
c.3018-2A>C (n.3018-2A>C)
c.3045-2A>C (n.3045-2A>C)
c.3042-2A>C (n.3042-2A>C)
c.3024-2A>C (n.3024-2A>C)
c.2967-2A>C (n.2967-2A>C)
c.2901-2A>C (n.2901-2A>C)
c.1467-2A>C (n.1467-2A>C)
c.819-2A>C (n.819-2A>C)
c.606-2A>C (n.606-2A>C)
c.2880-2A>C (n.2880-2A>C)
c.3015-2A>C (n.3015-2A>C)
c.3021-2A>C (n.3021-2A>C)
c.2937-2A>C (n.2937-2A>C)
c.2865-2A>C (n.2865-2A>C)
c.2799-2A>C (n.2799-2A>C)
c.2160-2A>C (n.2160-2A>C)
c.2778-2A>C (n.2778-2A>C)
9g.137813384A>GCA375793773EHMT1c.3036-2A>G (n.3036-2A>G)
c.2922-2A>G (n.2922-2A>G)
c.2943-2A>G (n.2943-2A>G)
c.3076-2A>G (n.3076-2A>G)
c.930-2A>G (n.930-2A>G)
c.1893-2A>G (n.1893-2A>G)
c.723-2A>G
n.562-2A>G
c.3027-2A>G (n.3027-2A>G)
c.3018-2A>G (n.3018-2A>G)
c.3045-2A>G (n.3045-2A>G)
c.3042-2A>G (n.3042-2A>G)
c.3024-2A>G (n.3024-2A>G)
c.2967-2A>G (n.2967-2A>G)
c.2901-2A>G (n.2901-2A>G)
c.1467-2A>G (n.1467-2A>G)
c.819-2A>G (n.819-2A>G)
c.606-2A>G (n.606-2A>G)
c.2880-2A>G (n.2880-2A>G)
c.3015-2A>G (n.3015-2A>G)
c.3021-2A>G (n.3021-2A>G)
c.2937-2A>G (n.2937-2A>G)
c.2865-2A>G (n.2865-2A>G)
c.2799-2A>G (n.2799-2A>G)
c.2160-2A>G (n.2160-2A>G)
c.2778-2A>G (n.2778-2A>G)
9g.137813384A>TCA375793771EHMT1c.3036-2A>T (n.3036-2A>T)
c.2922-2A>T (n.2922-2A>T)
c.2943-2A>T (n.2943-2A>T)
c.3076-2A>T (n.3076-2A>T)
c.930-2A>T (n.930-2A>T)
c.1893-2A>T (n.1893-2A>T)
c.723-2A>T
n.562-2A>T
c.3027-2A>T (n.3027-2A>T)
c.3018-2A>T (n.3018-2A>T)
c.3045-2A>T (n.3045-2A>T)
c.3042-2A>T (n.3042-2A>T)
c.3024-2A>T (n.3024-2A>T)
c.2967-2A>T (n.2967-2A>T)
c.2901-2A>T (n.2901-2A>T)
c.1467-2A>T (n.1467-2A>T)
c.819-2A>T (n.819-2A>T)
c.606-2A>T (n.606-2A>T)
c.2880-2A>T (n.2880-2A>T)
c.3015-2A>T (n.3015-2A>T)
c.3021-2A>T (n.3021-2A>T)
c.2937-2A>T (n.2937-2A>T)
c.2865-2A>T (n.2865-2A>T)
c.2799-2A>T (n.2799-2A>T)
c.2160-2A>T (n.2160-2A>T)
c.2778-2A>T (n.2778-2A>T)
9g.137813385G>ACA375793779EHMT1c.3036-1G>A (n.3036-1G>A)
c.2922-1G>A (n.2922-1G>A)
c.2943-1G>A (n.2943-1G>A)
c.3076-1G>A (n.3076-1G>A)
c.930-1G>A (n.930-1G>A)
c.1893-1G>A (n.1893-1G>A)
c.723-1G>A
n.562-1G>A
c.3027-1G>A (n.3027-1G>A)
c.3018-1G>A (n.3018-1G>A)
c.3045-1G>A (n.3045-1G>A)
c.3042-1G>A (n.3042-1G>A)
c.3024-1G>A (n.3024-1G>A)
c.2967-1G>A (n.2967-1G>A)
c.2901-1G>A (n.2901-1G>A)
c.1467-1G>A (n.1467-1G>A)
c.819-1G>A (n.819-1G>A)
c.606-1G>A (n.606-1G>A)
c.2880-1G>A (n.2880-1G>A)
c.3015-1G>A (n.3015-1G>A)
c.3021-1G>A (n.3021-1G>A)
c.2937-1G>A (n.2937-1G>A)
c.2865-1G>A (n.2865-1G>A)
c.2799-1G>A (n.2799-1G>A)
c.2160-1G>A (n.2160-1G>A)
c.2778-1G>A (n.2778-1G>A)
 ClinVar
9g.137813385G>CCA375793776EHMT1c.3036-1G>C (n.3036-1G>C)
c.2922-1G>C (n.2922-1G>C)
c.2943-1G>C (n.2943-1G>C)
c.3076-1G>C (n.3076-1G>C)
c.930-1G>C (n.930-1G>C)
c.1893-1G>C (n.1893-1G>C)
c.723-1G>C
n.562-1G>C
c.3027-1G>C (n.3027-1G>C)
c.3018-1G>C (n.3018-1G>C)
c.3045-1G>C (n.3045-1G>C)
c.3042-1G>C (n.3042-1G>C)
c.3024-1G>C (n.3024-1G>C)
c.2967-1G>C (n.2967-1G>C)
c.2901-1G>C (n.2901-1G>C)
c.1467-1G>C (n.1467-1G>C)
c.819-1G>C (n.819-1G>C)
c.606-1G>C (n.606-1G>C)
c.2880-1G>C (n.2880-1G>C)
c.3015-1G>C (n.3015-1G>C)
c.3021-1G>C (n.3021-1G>C)
c.2937-1G>C (n.2937-1G>C)
c.2865-1G>C (n.2865-1G>C)
c.2799-1G>C (n.2799-1G>C)
c.2160-1G>C (n.2160-1G>C)
c.2778-1G>C (n.2778-1G>C)
9g.137813385G>TCA375793778EHMT1c.3036-1G>T (n.3036-1G>T)
c.2922-1G>T (n.2922-1G>T)
c.2943-1G>T (n.2943-1G>T)
c.3076-1G>T (n.3076-1G>T)
c.930-1G>T (n.930-1G>T)
c.1893-1G>T (n.1893-1G>T)
c.723-1G>T
n.562-1G>T
c.3027-1G>T (n.3027-1G>T)
c.3018-1G>T (n.3018-1G>T)
c.3045-1G>T (n.3045-1G>T)
c.3042-1G>T (n.3042-1G>T)
c.3024-1G>T (n.3024-1G>T)
c.2967-1G>T (n.2967-1G>T)
c.2901-1G>T (n.2901-1G>T)
c.1467-1G>T (n.1467-1G>T)
c.819-1G>T (n.819-1G>T)
c.606-1G>T (n.606-1G>T)
c.2880-1G>T (n.2880-1G>T)
c.3015-1G>T (n.3015-1G>T)
c.3021-1G>T (n.3021-1G>T)
c.2937-1G>T (n.2937-1G>T)
c.2865-1G>T (n.2865-1G>T)
c.2799-1G>T (n.2799-1G>T)
c.2160-1G>T (n.2160-1G>T)
c.2778-1G>T (n.2778-1G>T)
 gnomAD v4
9g.137813386G>ACA468161396EHMT1c.3036G>A (p.Arg1012=)
c.2922G>A (p.Arg974=)
c.2943G>A (p.Arg981=)
c.3076G>A (n.3076G>A)
c.930G>A (p.Arg310=)
c.1893G>A (p.Arg631=)
c.723G>A
n.562G>A
c.3027G>A (p.Arg1009=)
c.3018G>A (p.Arg1006=)
c.3045G>A (p.Arg1015=)
c.3042G>A (p.Arg1014=)
c.3024G>A (p.Arg1008=)
c.2967G>A (p.Arg989=)
c.2901G>A (p.Arg967=)
c.1467G>A (p.Arg489=)
c.819G>A (p.Arg273=)
c.606G>A (p.Arg202=)
c.2880G>A (p.Arg960=)
c.3015G>A (p.Arg1005=)
c.3021G>A (p.Arg1007=)
c.2937G>A (p.Arg979=)
c.2865G>A (p.Arg955=)
c.2799G>A (p.Arg933=)
c.2160G>A (p.Arg720=)
c.2778G>A (p.Arg926=)
 dbSNP gnomAD v3 gnomAD v4
9g.137813386G>CCA10633357EHMT1c.3036G>C (p.Arg1012Ser)
c.2922G>C (p.Arg974Ser)
c.2943G>C (p.Arg981Ser)
c.3076G>C (n.3076G>C)
c.930G>C (p.Arg310Ser)
c.1893G>C (p.Arg631Ser)
c.723G>C
n.562G>C
c.3027G>C (p.Arg1009Ser)
c.3018G>C (p.Arg1006Ser)
c.3045G>C (p.Arg1015Ser)
c.3042G>C (p.Arg1014Ser)
c.3024G>C (p.Arg1008Ser)
c.2967G>C (p.Arg989Ser)
c.2901G>C (p.Arg967Ser)
c.1467G>C (p.Arg489Ser)
c.819G>C (p.Arg273Ser)
c.606G>C (p.Arg202Ser)
c.2880G>C (p.Arg960Ser)
c.3015G>C (p.Arg1005Ser)
c.3021G>C (p.Arg1007Ser)
c.2937G>C (p.Arg979Ser)
c.2865G>C (p.Arg955Ser)
c.2799G>C (p.Arg933Ser)
c.2160G>C (p.Arg720Ser)
c.2778G>C (p.Arg926Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.137813386G=CA1884685861EHMT1c.3036G= (p.Arg1012=)
c.2922G= (p.Arg974=)
c.2943G= (p.Arg981=)
c.3076G= (n.3076G=)
c.930G= (p.Arg310=)
c.1893G= (p.Arg631=)
c.723G=
n.562G=
c.3027G= (p.Arg1009=)
c.3018G= (p.Arg1006=)
c.3045G= (p.Arg1015=)
c.3042G= (p.Arg1014=)
c.3024G= (p.Arg1008=)
c.2967G= (p.Arg989=)
c.2901G= (p.Arg967=)
c.1467G= (p.Arg489=)
c.819G= (p.Arg273=)
c.606G= (p.Arg202=)
c.2880G= (p.Arg960=)
c.3015G= (p.Arg1005=)
c.3021G= (p.Arg1007=)
c.2937G= (p.Arg979=)
c.2865G= (p.Arg955=)
c.2799G= (p.Arg933=)
c.2160G= (p.Arg720=)
c.2778G= (p.Arg926=)
9g.137813386G>TCA375793780EHMT1c.3036G>T (p.Arg1012Ser)
c.2922G>T (p.Arg974Ser)
c.2943G>T (p.Arg981Ser)
c.3076G>T (n.3076G>T)
c.930G>T (p.Arg310Ser)
c.1893G>T (p.Arg631Ser)
c.723G>T
n.562G>T
c.3027G>T (p.Arg1009Ser)
c.3018G>T (p.Arg1006Ser)
c.3045G>T (p.Arg1015Ser)
c.3042G>T (p.Arg1014Ser)
c.3024G>T (p.Arg1008Ser)
c.2967G>T (p.Arg989Ser)
c.2901G>T (p.Arg967Ser)
c.1467G>T (p.Arg489Ser)
c.819G>T (p.Arg273Ser)
c.606G>T (p.Arg202Ser)
c.2880G>T (p.Arg960Ser)
c.3015G>T (p.Arg1005Ser)
c.3021G>T (p.Arg1007Ser)
c.2937G>T (p.Arg979Ser)
c.2865G>T (p.Arg955Ser)
c.2799G>T (p.Arg933Ser)
c.2160G>T (p.Arg720Ser)
c.2778G>T (p.Arg926Ser)
 gnomAD v4
9g.137813387G>ACA375793782EHMT1c.3037G>A (p.Asp1013Asn)
c.2923G>A (p.Asp975Asn)
c.2944G>A (p.Asp982Asn)
c.3077G>A (n.3077G>A)
c.931G>A (p.Asp311Asn)
c.1894G>A (p.Asp632Asn)
c.724G>A
n.563G>A
c.3028G>A (p.Asp1010Asn)
c.3019G>A (p.Asp1007Asn)
c.3046G>A (p.Asp1016Asn)
c.3043G>A (p.Asp1015Asn)
c.3025G>A (p.Asp1009Asn)
c.2968G>A (p.Asp990Asn)
c.2902G>A (p.Asp968Asn)
c.1468G>A (p.Asp490Asn)
c.820G>A (p.Asp274Asn)
c.607G>A (p.Asp203Asn)
c.2881G>A (p.Asp961Asn)
c.3016G>A (p.Asp1006Asn)
c.3022G>A (p.Asp1008Asn)
c.2938G>A (p.Asp980Asn)
c.2866G>A (p.Asp956Asn)
c.2800G>A (p.Asp934Asn)
c.2161G>A (p.Asp721Asn)
c.2779G>A (p.Asp927Asn)
 gnomAD v4
9g.137813387G>CCA375793784EHMT1c.3037G>C (p.Asp1013His)
c.2923G>C (p.Asp975His)
c.2944G>C (p.Asp982His)
c.3077G>C (n.3077G>C)
c.931G>C (p.Asp311His)
c.1894G>C (p.Asp632His)
c.724G>C
n.563G>C
c.3028G>C (p.Asp1010His)
c.3019G>C (p.Asp1007His)
c.3046G>C (p.Asp1016His)
c.3043G>C (p.Asp1015His)
c.3025G>C (p.Asp1009His)
c.2968G>C (p.Asp990His)
c.2902G>C (p.Asp968His)
c.1468G>C (p.Asp490His)
c.820G>C (p.Asp274His)
c.607G>C (p.Asp203His)
c.2881G>C (p.Asp961His)
c.3016G>C (p.Asp1006His)
c.3022G>C (p.Asp1008His)
c.2938G>C (p.Asp980His)
c.2866G>C (p.Asp956His)
c.2800G>C (p.Asp934His)
c.2161G>C (p.Asp721His)
c.2779G>C (p.Asp927His)
9g.137813387G=CA1884685862EHMT1c.3037G= (p.Asp1013=)
c.2923G= (p.Asp975=)
c.2944G= (p.Asp982=)
c.3077G= (n.3077G=)
c.931G= (p.Asp311=)
c.1894G= (p.Asp632=)
c.724G=
n.563G=
c.3028G= (p.Asp1010=)
c.3019G= (p.Asp1007=)
c.3046G= (p.Asp1016=)
c.3043G= (p.Asp1015=)
c.3025G= (p.Asp1009=)
c.2968G= (p.Asp990=)
c.2902G= (p.Asp968=)
c.1468G= (p.Asp490=)
c.820G= (p.Asp274=)
c.607G= (p.Asp203=)
c.2881G= (p.Asp961=)
c.3016G= (p.Asp1006=)
c.3022G= (p.Asp1008=)
c.2938G= (p.Asp980=)
c.2866G= (p.Asp956=)
c.2800G= (p.Asp934=)
c.2161G= (p.Asp721=)
c.2779G= (p.Asp927=)
9g.137813387G>TCA375793786EHMT1c.3037G>T (p.Asp1013Tyr)
c.2923G>T (p.Asp975Tyr)
c.2944G>T (p.Asp982Tyr)
c.3077G>T (n.3077G>T)
c.931G>T (p.Asp311Tyr)
c.1894G>T (p.Asp632Tyr)
c.724G>T
n.563G>T
c.3028G>T (p.Asp1010Tyr)
c.3019G>T (p.Asp1007Tyr)
c.3046G>T (p.Asp1016Tyr)
c.3043G>T (p.Asp1015Tyr)
c.3025G>T (p.Asp1009Tyr)
c.2968G>T (p.Asp990Tyr)
c.2902G>T (p.Asp968Tyr)
c.1468G>T (p.Asp490Tyr)
c.820G>T (p.Asp274Tyr)
c.607G>T (p.Asp203Tyr)
c.2881G>T (p.Asp961Tyr)
c.3016G>T (p.Asp1006Tyr)
c.3022G>T (p.Asp1008Tyr)
c.2938G>T (p.Asp980Tyr)
c.2866G>T (p.Asp956Tyr)
c.2800G>T (p.Asp934Tyr)
c.2161G>T (p.Asp721Tyr)
c.2779G>T (p.Asp927Tyr)
 ClinVar dbSNP gnomAD v4
9g.137813388A>CCA375793788EHMT1c.3038A>C (p.Asp1013Ala)
c.2924A>C (p.Asp975Ala)
c.2945A>C (p.Asp982Ala)
c.3078A>C (n.3078A>C)
c.932A>C (p.Asp311Ala)
c.1895A>C (p.Asp632Ala)
c.725A>C
n.564A>C
c.3029A>C (p.Asp1010Ala)
c.3020A>C (p.Asp1007Ala)
c.3047A>C (p.Asp1016Ala)
c.3044A>C (p.Asp1015Ala)
c.3026A>C (p.Asp1009Ala)
c.2969A>C (p.Asp990Ala)
c.2903A>C (p.Asp968Ala)
c.1469A>C (p.Asp490Ala)
c.821A>C (p.Asp274Ala)
c.608A>C (p.Asp203Ala)
c.2882A>C (p.Asp961Ala)
c.3017A>C (p.Asp1006Ala)
c.3023A>C (p.Asp1008Ala)
c.2939A>C (p.Asp980Ala)
c.2867A>C (p.Asp956Ala)
c.2801A>C (p.Asp934Ala)
c.2162A>C (p.Asp721Ala)
c.2780A>C (p.Asp927Ala)
9g.137813388A>GCA375793789EHMT1c.3038A>G (p.Asp1013Gly)
c.2924A>G (p.Asp975Gly)
c.2945A>G (p.Asp982Gly)
c.3078A>G (n.3078A>G)
c.932A>G (p.Asp311Gly)
c.1895A>G (p.Asp632Gly)
c.725A>G
n.564A>G
c.3029A>G (p.Asp1010Gly)
c.3020A>G (p.Asp1007Gly)
c.3047A>G (p.Asp1016Gly)
c.3044A>G (p.Asp1015Gly)
c.3026A>G (p.Asp1009Gly)
c.2969A>G (p.Asp990Gly)
c.2903A>G (p.Asp968Gly)
c.1469A>G (p.Asp490Gly)
c.821A>G (p.Asp274Gly)
c.608A>G (p.Asp203Gly)
c.2882A>G (p.Asp961Gly)
c.3017A>G (p.Asp1006Gly)
c.3023A>G (p.Asp1008Gly)
c.2939A>G (p.Asp980Gly)
c.2867A>G (p.Asp956Gly)
c.2801A>G (p.Asp934Gly)
c.2162A>G (p.Asp721Gly)
c.2780A>G (p.Asp927Gly)
9g.137813388A>TCA375793791EHMT1c.3038A>T (p.Asp1013Val)
c.2924A>T (p.Asp975Val)
c.2945A>T (p.Asp982Val)
c.3078A>T (n.3078A>T)
c.932A>T (p.Asp311Val)
c.1895A>T (p.Asp632Val)
c.725A>T
n.564A>T
c.3029A>T (p.Asp1010Val)
c.3020A>T (p.Asp1007Val)
c.3047A>T (p.Asp1016Val)
c.3044A>T (p.Asp1015Val)
c.3026A>T (p.Asp1009Val)
c.2969A>T (p.Asp990Val)
c.2903A>T (p.Asp968Val)
c.1469A>T (p.Asp490Val)
c.821A>T (p.Asp274Val)
c.608A>T (p.Asp203Val)
c.2882A>T (p.Asp961Val)
c.3017A>T (p.Asp1006Val)
c.3023A>T (p.Asp1008Val)
c.2939A>T (p.Asp980Val)
c.2867A>T (p.Asp956Val)
c.2801A>T (p.Asp934Val)
c.2162A>T (p.Asp721Val)
c.2780A>T (p.Asp927Val)
9g.137813389C>ACA375793793EHMT1c.3039C>A (p.Asp1013Glu)
c.2925C>A (p.Asp975Glu)
c.2946C>A (p.Asp982Glu)
c.3079C>A (n.3079C>A)
c.933C>A (p.Asp311Glu)
c.1896C>A (p.Asp632Glu)
c.726C>A
n.565C>A
c.3030C>A (p.Asp1010Glu)
c.3021C>A (p.Asp1007Glu)
c.3048C>A (p.Asp1016Glu)
c.3045C>A (p.Asp1015Glu)
c.3027C>A (p.Asp1009Glu)
c.2970C>A (p.Asp990Glu)
c.2904C>A (p.Asp968Glu)
c.1470C>A (p.Asp490Glu)
c.822C>A (p.Asp274Glu)
c.609C>A (p.Asp203Glu)
c.2883C>A (p.Asp961Glu)
c.3018C>A (p.Asp1006Glu)
c.3024C>A (p.Asp1008Glu)
c.2940C>A (p.Asp980Glu)
c.2868C>A (p.Asp956Glu)
c.2802C>A (p.Asp934Glu)
c.2163C>A (p.Asp721Glu)
c.2781C>A (p.Asp927Glu)
9g.137813389C=CA1884685863EHMT1c.3039C= (p.Asp1013=)
c.2925C= (p.Asp975=)
c.2946C= (p.Asp982=)
c.3079C= (n.3079C=)
c.933C= (p.Asp311=)
c.1896C= (p.Asp632=)
c.726C=
n.565C=
c.3030C= (p.Asp1010=)
c.3021C= (p.Asp1007=)
c.3048C= (p.Asp1016=)
c.3045C= (p.Asp1015=)
c.3027C= (p.Asp1009=)
c.2970C= (p.Asp990=)
c.2904C= (p.Asp968=)
c.1470C= (p.Asp490=)
c.822C= (p.Asp274=)
c.609C= (p.Asp203=)
c.2883C= (p.Asp961=)
c.3018C= (p.Asp1006=)
c.3024C= (p.Asp1008=)
c.2940C= (p.Asp980=)
c.2868C= (p.Asp956=)
c.2802C= (p.Asp934=)
c.2163C= (p.Asp721=)
c.2781C= (p.Asp927=)
9g.137813389C>GCA375793795EHMT1c.3039C>G (p.Asp1013Glu)
c.2925C>G (p.Asp975Glu)
c.2946C>G (p.Asp982Glu)
c.3079C>G (n.3079C>G)
c.933C>G (p.Asp311Glu)
c.1896C>G (p.Asp632Glu)
c.726C>G
n.565C>G
c.3030C>G (p.Asp1010Glu)
c.3021C>G (p.Asp1007Glu)
c.3048C>G (p.Asp1016Glu)
c.3045C>G (p.Asp1015Glu)
c.3027C>G (p.Asp1009Glu)
c.2970C>G (p.Asp990Glu)
c.2904C>G (p.Asp968Glu)
c.1470C>G (p.Asp490Glu)
c.822C>G (p.Asp274Glu)
c.609C>G (p.Asp203Glu)
c.2883C>G (p.Asp961Glu)
c.3018C>G (p.Asp1006Glu)
c.3024C>G (p.Asp1008Glu)
c.2940C>G (p.Asp980Glu)
c.2868C>G (p.Asp956Glu)
c.2802C>G (p.Asp934Glu)
c.2163C>G (p.Asp721Glu)
c.2781C>G (p.Asp927Glu)
9g.137813389C>TCA5375149EHMT1c.3039C>T (p.Asp1013=)
c.2925C>T (p.Asp975=)
c.2946C>T (p.Asp982=)
c.3079C>T (n.3079C>T)
c.933C>T (p.Asp311=)
c.1896C>T (p.Asp632=)
c.726C>T
n.565C>T
c.3030C>T (p.Asp1010=)
c.3021C>T (p.Asp1007=)
c.3048C>T (p.Asp1016=)
c.3045C>T (p.Asp1015=)
c.3027C>T (p.Asp1009=)
c.2970C>T (p.Asp990=)
c.2904C>T (p.Asp968=)
c.1470C>T (p.Asp490=)
c.822C>T (p.Asp274=)
c.609C>T (p.Asp203=)
c.2883C>T (p.Asp961=)
c.3018C>T (p.Asp1006=)
c.3024C>T (p.Asp1008=)
c.2940C>T (p.Asp980=)
c.2868C>T (p.Asp956=)
c.2802C>T (p.Asp934=)
c.2163C>T (p.Asp721=)
c.2781C>T (p.Asp927=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813390A=CA1884685864EHMT1c.3040A= (p.Ile1014=)
c.2926A= (p.Ile976=)
c.2947A= (p.Ile983=)
c.3080A= (n.3080A=)
c.934A= (p.Ile312=)
c.1897A= (p.Ile633=)
c.727A=
n.566A=
c.3031A= (p.Ile1011=)
c.3022A= (p.Ile1008=)
c.3049A= (p.Ile1017=)
c.3046A= (p.Ile1016=)
c.3028A= (p.Ile1010=)
c.2971A= (p.Ile991=)
c.2905A= (p.Ile969=)
c.1471A= (p.Ile491=)
c.823A= (p.Ile275=)
c.610A= (p.Ile204=)
c.2884A= (p.Ile962=)
c.3019A= (p.Ile1007=)
c.3025A= (p.Ile1009=)
c.2941A= (p.Ile981=)
c.2869A= (p.Ile957=)
c.2803A= (p.Ile935=)
c.2164A= (p.Ile722=)
c.2782A= (p.Ile928=)
9g.137813390A>CCA375793801EHMT1c.3040A>C (p.Ile1014Leu)
c.2926A>C (p.Ile976Leu)
c.2947A>C (p.Ile983Leu)
c.3080A>C (n.3080A>C)
c.934A>C (p.Ile312Leu)
c.1897A>C (p.Ile633Leu)
c.727A>C
n.566A>C
c.3031A>C (p.Ile1011Leu)
c.3022A>C (p.Ile1008Leu)
c.3049A>C (p.Ile1017Leu)
c.3046A>C (p.Ile1016Leu)
c.3028A>C (p.Ile1010Leu)
c.2971A>C (p.Ile991Leu)
c.2905A>C (p.Ile969Leu)
c.1471A>C (p.Ile491Leu)
c.823A>C (p.Ile275Leu)
c.610A>C (p.Ile204Leu)
c.2884A>C (p.Ile962Leu)
c.3019A>C (p.Ile1007Leu)
c.3025A>C (p.Ile1009Leu)
c.2941A>C (p.Ile981Leu)
c.2869A>C (p.Ile957Leu)
c.2803A>C (p.Ile935Leu)
c.2164A>C (p.Ile722Leu)
c.2782A>C (p.Ile928Leu)
9g.137813390A>GCA375793798EHMT1c.3040A>G (p.Ile1014Val)
c.2926A>G (p.Ile976Val)
c.2947A>G (p.Ile983Val)
c.3080A>G (n.3080A>G)
c.934A>G (p.Ile312Val)
c.1897A>G (p.Ile633Val)
c.727A>G
n.566A>G
c.3031A>G (p.Ile1011Val)
c.3022A>G (p.Ile1008Val)
c.3049A>G (p.Ile1017Val)
c.3046A>G (p.Ile1016Val)
c.3028A>G (p.Ile1010Val)
c.2971A>G (p.Ile991Val)
c.2905A>G (p.Ile969Val)
c.1471A>G (p.Ile491Val)
c.823A>G (p.Ile275Val)
c.610A>G (p.Ile204Val)
c.2884A>G (p.Ile962Val)
c.3019A>G (p.Ile1007Val)
c.3025A>G (p.Ile1009Val)
c.2941A>G (p.Ile981Val)
c.2869A>G (p.Ile957Val)
c.2803A>G (p.Ile935Val)
c.2164A>G (p.Ile722Val)
c.2782A>G (p.Ile928Val)
 dbSNP gnomAD v2 gnomAD v4
9g.137813390A>TCA375793800EHMT1c.3040A>T (p.Ile1014Phe)
c.2926A>T (p.Ile976Phe)
c.2947A>T (p.Ile983Phe)
c.3080A>T (n.3080A>T)
c.934A>T (p.Ile312Phe)
c.1897A>T (p.Ile633Phe)
c.727A>T
n.566A>T
c.3031A>T (p.Ile1011Phe)
c.3022A>T (p.Ile1008Phe)
c.3049A>T (p.Ile1017Phe)
c.3046A>T (p.Ile1016Phe)
c.3028A>T (p.Ile1010Phe)
c.2971A>T (p.Ile991Phe)
c.2905A>T (p.Ile969Phe)
c.1471A>T (p.Ile491Phe)
c.823A>T (p.Ile275Phe)
c.610A>T (p.Ile204Phe)
c.2884A>T (p.Ile962Phe)
c.3019A>T (p.Ile1007Phe)
c.3025A>T (p.Ile1009Phe)
c.2941A>T (p.Ile981Phe)
c.2869A>T (p.Ile957Phe)
c.2803A>T (p.Ile935Phe)
c.2164A>T (p.Ile722Phe)
c.2782A>T (p.Ile928Phe)
9g.137813391T>ACA375793803EHMT1c.3041T>A (p.Ile1014Asn)
c.2927T>A (p.Ile976Asn)
c.2948T>A (p.Ile983Asn)
c.3081T>A (n.3081T>A)
c.935T>A (p.Ile312Asn)
c.1898T>A (p.Ile633Asn)
c.728T>A
n.567T>A
c.3032T>A (p.Ile1011Asn)
c.3023T>A (p.Ile1008Asn)
c.3050T>A (p.Ile1017Asn)
c.3047T>A (p.Ile1016Asn)
c.3029T>A (p.Ile1010Asn)
c.2972T>A (p.Ile991Asn)
c.2906T>A (p.Ile969Asn)
c.1472T>A (p.Ile491Asn)
c.824T>A (p.Ile275Asn)
c.611T>A (p.Ile204Asn)
c.2885T>A (p.Ile962Asn)
c.3020T>A (p.Ile1007Asn)
c.3026T>A (p.Ile1009Asn)
c.2942T>A (p.Ile981Asn)
c.2870T>A (p.Ile957Asn)
c.2804T>A (p.Ile935Asn)
c.2165T>A (p.Ile722Asn)
c.2783T>A (p.Ile928Asn)
9g.137813391T>CCA375793805EHMT1c.3041T>C (p.Ile1014Thr)
c.2927T>C (p.Ile976Thr)
c.2948T>C (p.Ile983Thr)
c.3081T>C (n.3081T>C)
c.935T>C (p.Ile312Thr)
c.1898T>C (p.Ile633Thr)
c.728T>C
n.567T>C
c.3032T>C (p.Ile1011Thr)
c.3023T>C (p.Ile1008Thr)
c.3050T>C (p.Ile1017Thr)
c.3047T>C (p.Ile1016Thr)
c.3029T>C (p.Ile1010Thr)
c.2972T>C (p.Ile991Thr)
c.2906T>C (p.Ile969Thr)
c.1472T>C (p.Ile491Thr)
c.824T>C (p.Ile275Thr)
c.611T>C (p.Ile204Thr)
c.2885T>C (p.Ile962Thr)
c.3020T>C (p.Ile1007Thr)
c.3026T>C (p.Ile1009Thr)
c.2942T>C (p.Ile981Thr)
c.2870T>C (p.Ile957Thr)
c.2804T>C (p.Ile935Thr)
c.2165T>C (p.Ile722Thr)
c.2783T>C (p.Ile928Thr)
9g.137813391T>GCA375793806EHMT1c.3041T>G (p.Ile1014Ser)
c.2927T>G (p.Ile976Ser)
c.2948T>G (p.Ile983Ser)
c.3081T>G (n.3081T>G)
c.935T>G (p.Ile312Ser)
c.1898T>G (p.Ile633Ser)
c.728T>G
n.567T>G
c.3032T>G (p.Ile1011Ser)
c.3023T>G (p.Ile1008Ser)
c.3050T>G (p.Ile1017Ser)
c.3047T>G (p.Ile1016Ser)
c.3029T>G (p.Ile1010Ser)
c.2972T>G (p.Ile991Ser)
c.2906T>G (p.Ile969Ser)
c.1472T>G (p.Ile491Ser)
c.824T>G (p.Ile275Ser)
c.611T>G (p.Ile204Ser)
c.2885T>G (p.Ile962Ser)
c.3020T>G (p.Ile1007Ser)
c.3026T>G (p.Ile1009Ser)
c.2942T>G (p.Ile981Ser)
c.2870T>G (p.Ile957Ser)
c.2804T>G (p.Ile935Ser)
c.2165T>G (p.Ile722Ser)
c.2783T>G (p.Ile928Ser)
9g.137813392C>ACA468161397EHMT1c.3042C>A (p.Ile1014=)
c.2928C>A (p.Ile976=)
c.2949C>A (p.Ile983=)
c.3082C>A (n.3082C>A)
c.936C>A (p.Ile312=)
c.1899C>A (p.Ile633=)
c.729C>A
n.568C>A
c.3033C>A (p.Ile1011=)
c.3024C>A (p.Ile1008=)
c.3051C>A (p.Ile1017=)
c.3048C>A (p.Ile1016=)
c.3030C>A (p.Ile1010=)
c.2973C>A (p.Ile991=)
c.2907C>A (p.Ile969=)
c.1473C>A (p.Ile491=)
c.825C>A (p.Ile275=)
c.612C>A (p.Ile204=)
c.2886C>A (p.Ile962=)
c.3021C>A (p.Ile1007=)
c.3027C>A (p.Ile1009=)
c.2943C>A (p.Ile981=)
c.2871C>A (p.Ile957=)
c.2805C>A (p.Ile935=)
c.2166C>A (p.Ile722=)
c.2784C>A (p.Ile928=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.137813392C=CA1884685865EHMT1c.3042C= (p.Ile1014=)
c.2928C= (p.Ile976=)
c.2949C= (p.Ile983=)
c.3082C= (n.3082C=)
c.936C= (p.Ile312=)
c.1899C= (p.Ile633=)
c.729C=
n.568C=
c.3033C= (p.Ile1011=)
c.3024C= (p.Ile1008=)
c.3051C= (p.Ile1017=)
c.3048C= (p.Ile1016=)
c.3030C= (p.Ile1010=)
c.2973C= (p.Ile991=)
c.2907C= (p.Ile969=)
c.1473C= (p.Ile491=)
c.825C= (p.Ile275=)
c.612C= (p.Ile204=)
c.2886C= (p.Ile962=)
c.3021C= (p.Ile1007=)
c.3027C= (p.Ile1009=)
c.2943C= (p.Ile981=)
c.2871C= (p.Ile957=)
c.2805C= (p.Ile935=)
c.2166C= (p.Ile722=)
c.2784C= (p.Ile928=)
9g.137813392C>GCA375793808EHMT1c.3042C>G (p.Ile1014Met)
c.2928C>G (p.Ile976Met)
c.2949C>G (p.Ile983Met)
c.3082C>G (n.3082C>G)
c.936C>G (p.Ile312Met)
c.1899C>G (p.Ile633Met)
c.729C>G
n.568C>G
c.3033C>G (p.Ile1011Met)
c.3024C>G (p.Ile1008Met)
c.3051C>G (p.Ile1017Met)
c.3048C>G (p.Ile1016Met)
c.3030C>G (p.Ile1010Met)
c.2973C>G (p.Ile991Met)
c.2907C>G (p.Ile969Met)
c.1473C>G (p.Ile491Met)
c.825C>G (p.Ile275Met)
c.612C>G (p.Ile204Met)
c.2886C>G (p.Ile962Met)
c.3021C>G (p.Ile1007Met)
c.3027C>G (p.Ile1009Met)
c.2943C>G (p.Ile981Met)
c.2871C>G (p.Ile957Met)
c.2805C>G (p.Ile935Met)
c.2166C>G (p.Ile722Met)
c.2784C>G (p.Ile928Met)
9g.137813392C>TCA5375150EHMT1c.3042C>T (p.Ile1014=)
c.2928C>T (p.Ile976=)
c.2949C>T (p.Ile983=)
c.3082C>T (n.3082C>T)
c.936C>T (p.Ile312=)
c.1899C>T (p.Ile633=)
c.729C>T
n.568C>T
c.3033C>T (p.Ile1011=)
c.3024C>T (p.Ile1008=)
c.3051C>T (p.Ile1017=)
c.3048C>T (p.Ile1016=)
c.3030C>T (p.Ile1010=)
c.2973C>T (p.Ile991=)
c.2907C>T (p.Ile969=)
c.1473C>T (p.Ile491=)
c.825C>T (p.Ile275=)
c.612C>T (p.Ile204=)
c.2886C>T (p.Ile962=)
c.3021C>T (p.Ile1007=)
c.3027C>T (p.Ile1009=)
c.2943C>T (p.Ile981=)
c.2871C>T (p.Ile957=)
c.2805C>T (p.Ile935=)
c.2166C>T (p.Ile722=)
c.2784C>T (p.Ile928=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813393G>ACA5375151EHMT1c.3043G>A (p.Ala1015Thr)
c.2929G>A (p.Ala977Thr)
c.2950G>A (p.Ala984Thr)
c.3083G>A (n.3083G>A)
c.937G>A (p.Ala313Thr)
c.1900G>A (p.Ala634Thr)
c.730G>A
n.569G>A
c.3034G>A (p.Ala1012Thr)
c.3025G>A (p.Ala1009Thr)
c.3052G>A (p.Ala1018Thr)
c.3049G>A (p.Ala1017Thr)
c.3031G>A (p.Ala1011Thr)
c.2974G>A (p.Ala992Thr)
c.2908G>A (p.Ala970Thr)
c.1474G>A (p.Ala492Thr)
c.826G>A (p.Ala276Thr)
c.613G>A (p.Ala205Thr)
c.2887G>A (p.Ala963Thr)
c.3022G>A (p.Ala1008Thr)
c.3028G>A (p.Ala1010Thr)
c.2944G>A (p.Ala982Thr)
c.2872G>A (p.Ala958Thr)
c.2806G>A (p.Ala936Thr)
c.2167G>A (p.Ala723Thr)
c.2785G>A (p.Ala929Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813393G>CCA375793812EHMT1c.3043G>C (p.Ala1015Pro)
c.2929G>C (p.Ala977Pro)
c.2950G>C (p.Ala984Pro)
c.3083G>C (n.3083G>C)
c.937G>C (p.Ala313Pro)
c.1900G>C (p.Ala634Pro)
c.730G>C
n.569G>C
c.3034G>C (p.Ala1012Pro)
c.3025G>C (p.Ala1009Pro)
c.3052G>C (p.Ala1018Pro)
c.3049G>C (p.Ala1017Pro)
c.3031G>C (p.Ala1011Pro)
c.2974G>C (p.Ala992Pro)
c.2908G>C (p.Ala970Pro)
c.1474G>C (p.Ala492Pro)
c.826G>C (p.Ala276Pro)
c.613G>C (p.Ala205Pro)
c.2887G>C (p.Ala963Pro)
c.3022G>C (p.Ala1008Pro)
c.3028G>C (p.Ala1010Pro)
c.2944G>C (p.Ala982Pro)
c.2872G>C (p.Ala958Pro)
c.2806G>C (p.Ala936Pro)
c.2167G>C (p.Ala723Pro)
c.2785G>C (p.Ala929Pro)
9g.137813393G=CA1884685866EHMT1c.3043G= (p.Ala1015=)
c.2929G= (p.Ala977=)
c.2950G= (p.Ala984=)
c.3083G= (n.3083G=)
c.937G= (p.Ala313=)
c.1900G= (p.Ala634=)
c.730G=
n.569G=
c.3034G= (p.Ala1012=)
c.3025G= (p.Ala1009=)
c.3052G= (p.Ala1018=)
c.3049G= (p.Ala1017=)
c.3031G= (p.Ala1011=)
c.2974G= (p.Ala992=)
c.2908G= (p.Ala970=)
c.1474G= (p.Ala492=)
c.826G= (p.Ala276=)
c.613G= (p.Ala205=)
c.2887G= (p.Ala963=)
c.3022G= (p.Ala1008=)
c.3028G= (p.Ala1010=)
c.2944G= (p.Ala982=)
c.2872G= (p.Ala958=)
c.2806G= (p.Ala936=)
c.2167G= (p.Ala723=)
c.2785G= (p.Ala929=)
9g.137813393G>TCA375793813EHMT1c.3043G>T (p.Ala1015Ser)
c.2929G>T (p.Ala977Ser)
c.2950G>T (p.Ala984Ser)
c.3083G>T (n.3083G>T)
c.937G>T (p.Ala313Ser)
c.1900G>T (p.Ala634Ser)
c.730G>T
n.569G>T
c.3034G>T (p.Ala1012Ser)
c.3025G>T (p.Ala1009Ser)
c.3052G>T (p.Ala1018Ser)
c.3049G>T (p.Ala1017Ser)
c.3031G>T (p.Ala1011Ser)
c.2974G>T (p.Ala992Ser)
c.2908G>T (p.Ala970Ser)
c.1474G>T (p.Ala492Ser)
c.826G>T (p.Ala276Ser)
c.613G>T (p.Ala205Ser)
c.2887G>T (p.Ala963Ser)
c.3022G>T (p.Ala1008Ser)
c.3028G>T (p.Ala1010Ser)
c.2944G>T (p.Ala982Ser)
c.2872G>T (p.Ala958Ser)
c.2806G>T (p.Ala936Ser)
c.2167G>T (p.Ala723Ser)
c.2785G>T (p.Ala929Ser)
 ClinVar dbSNP
9g.137813394C>ACA375793816EHMT1c.3044C>A (p.Ala1015Asp)
c.2930C>A (p.Ala977Asp)
c.2951C>A (p.Ala984Asp)
c.3084C>A (n.3084C>A)
c.938C>A (p.Ala313Asp)
c.1901C>A (p.Ala634Asp)
c.731C>A
n.570C>A
c.3035C>A (p.Ala1012Asp)
c.3026C>A (p.Ala1009Asp)
c.3053C>A (p.Ala1018Asp)
c.3050C>A (p.Ala1017Asp)
c.3032C>A (p.Ala1011Asp)
c.2975C>A (p.Ala992Asp)
c.2909C>A (p.Ala970Asp)
c.1475C>A (p.Ala492Asp)
c.827C>A (p.Ala276Asp)
c.614C>A (p.Ala205Asp)
c.2888C>A (p.Ala963Asp)
c.3023C>A (p.Ala1008Asp)
c.3029C>A (p.Ala1010Asp)
c.2945C>A (p.Ala982Asp)
c.2873C>A (p.Ala958Asp)
c.2807C>A (p.Ala936Asp)
c.2168C>A (p.Ala723Asp)
c.2786C>A (p.Ala929Asp)
9g.137813394C>GCA375793817EHMT1c.3044C>G (p.Ala1015Gly)
c.2930C>G (p.Ala977Gly)
c.2951C>G (p.Ala984Gly)
c.3084C>G (n.3084C>G)
c.938C>G (p.Ala313Gly)
c.1901C>G (p.Ala634Gly)
c.731C>G
n.570C>G
c.3035C>G (p.Ala1012Gly)
c.3026C>G (p.Ala1009Gly)
c.3053C>G (p.Ala1018Gly)
c.3050C>G (p.Ala1017Gly)
c.3032C>G (p.Ala1011Gly)
c.2975C>G (p.Ala992Gly)
c.2909C>G (p.Ala970Gly)
c.1475C>G (p.Ala492Gly)
c.827C>G (p.Ala276Gly)
c.614C>G (p.Ala205Gly)
c.2888C>G (p.Ala963Gly)
c.3023C>G (p.Ala1008Gly)
c.3029C>G (p.Ala1010Gly)
c.2945C>G (p.Ala982Gly)
c.2873C>G (p.Ala958Gly)
c.2807C>G (p.Ala936Gly)
c.2168C>G (p.Ala723Gly)
c.2786C>G (p.Ala929Gly)
9g.137813394C>TCA375793819EHMT1c.3044C>T (p.Ala1015Val)
c.2930C>T (p.Ala977Val)
c.2951C>T (p.Ala984Val)
c.3084C>T (n.3084C>T)
c.938C>T (p.Ala313Val)
c.1901C>T (p.Ala634Val)
c.731C>T
n.570C>T
c.3035C>T (p.Ala1012Val)
c.3026C>T (p.Ala1009Val)
c.3053C>T (p.Ala1018Val)
c.3050C>T (p.Ala1017Val)
c.3032C>T (p.Ala1011Val)
c.2975C>T (p.Ala992Val)
c.2909C>T (p.Ala970Val)
c.1475C>T (p.Ala492Val)
c.827C>T (p.Ala276Val)
c.614C>T (p.Ala205Val)
c.2888C>T (p.Ala963Val)
c.3023C>T (p.Ala1008Val)
c.3029C>T (p.Ala1010Val)
c.2945C>T (p.Ala982Val)
c.2873C>T (p.Ala958Val)
c.2807C>T (p.Ala936Val)
c.2168C>T (p.Ala723Val)
c.2786C>T (p.Ala929Val)
9g.137813395T>ACA468161398EHMT1c.3045T>A (p.Ala1015=)
c.2931T>A (p.Ala977=)
c.2952T>A (p.Ala984=)
c.3085T>A (n.3085T>A)
c.939T>A (p.Ala313=)
c.1902T>A (p.Ala634=)
c.732T>A
n.571T>A
c.3036T>A (p.Ala1012=)
c.3027T>A (p.Ala1009=)
c.3054T>A (p.Ala1018=)
c.3051T>A (p.Ala1017=)
c.3033T>A (p.Ala1011=)
c.2976T>A (p.Ala992=)
c.2910T>A (p.Ala970=)
c.1476T>A (p.Ala492=)
c.828T>A (p.Ala276=)
c.615T>A (p.Ala205=)
c.2889T>A (p.Ala963=)
c.3024T>A (p.Ala1008=)
c.3030T>A (p.Ala1010=)
c.2946T>A (p.Ala982=)
c.2874T>A (p.Ala958=)
c.2808T>A (p.Ala936=)
c.2169T>A (p.Ala723=)
c.2787T>A (p.Ala929=)
9g.137813395T>CCA468161399EHMT1c.3045T>C (p.Ala1015=)
c.2931T>C (p.Ala977=)
c.2952T>C (p.Ala984=)
c.3085T>C (n.3085T>C)
c.939T>C (p.Ala313=)
c.1902T>C (p.Ala634=)
c.732T>C
n.571T>C
c.3036T>C (p.Ala1012=)
c.3027T>C (p.Ala1009=)
c.3054T>C (p.Ala1018=)
c.3051T>C (p.Ala1017=)
c.3033T>C (p.Ala1011=)
c.2976T>C (p.Ala992=)
c.2910T>C (p.Ala970=)
c.1476T>C (p.Ala492=)
c.828T>C (p.Ala276=)
c.615T>C (p.Ala205=)
c.2889T>C (p.Ala963=)
c.3024T>C (p.Ala1008=)
c.3030T>C (p.Ala1010=)
c.2946T>C (p.Ala982=)
c.2874T>C (p.Ala958=)
c.2808T>C (p.Ala936=)
c.2169T>C (p.Ala723=)
c.2787T>C (p.Ala929=)
9g.137813395T>GCA468161400EHMT1c.3045T>G (p.Ala1015=)
c.2931T>G (p.Ala977=)
c.2952T>G (p.Ala984=)
c.3085T>G (n.3085T>G)
c.939T>G (p.Ala313=)
c.1902T>G (p.Ala634=)
c.732T>G
n.571T>G
c.3036T>G (p.Ala1012=)
c.3027T>G (p.Ala1009=)
c.3054T>G (p.Ala1018=)
c.3051T>G (p.Ala1017=)
c.3033T>G (p.Ala1011=)
c.2976T>G (p.Ala992=)
c.2910T>G (p.Ala970=)
c.1476T>G (p.Ala492=)
c.828T>G (p.Ala276=)
c.615T>G (p.Ala205=)
c.2889T>G (p.Ala963=)
c.3024T>G (p.Ala1008=)
c.3030T>G (p.Ala1010=)
c.2946T>G (p.Ala982=)
c.2874T>G (p.Ala958=)
c.2808T>G (p.Ala936=)
c.2169T>G (p.Ala723=)
c.2787T>G (p.Ala929=)
9g.137813396C>ACA468161401EHMT1c.3046C>A (p.Arg1016=)
c.2932C>A (p.Arg978=)
c.2953C>A (p.Arg985=)
c.3086C>A (n.3086C>A)
c.940C>A (p.Arg314=)
c.1903C>A (p.Arg635=)
c.733C>A
n.572C>A
c.3037C>A (p.Arg1013=)
c.3028C>A (p.Arg1010=)
c.3055C>A (p.Arg1019=)
c.3052C>A (p.Arg1018=)
c.3034C>A (p.Arg1012=)
c.2977C>A (p.Arg993=)
c.2911C>A (p.Arg971=)
c.1477C>A (p.Arg493=)
c.829C>A (p.Arg277=)
c.616C>A (p.Arg206=)
c.2890C>A (p.Arg964=)
c.3025C>A (p.Arg1009=)
c.3031C>A (p.Arg1011=)
c.2947C>A (p.Arg983=)
c.2875C>A (p.Arg959=)
c.2809C>A (p.Arg937=)
c.2170C>A (p.Arg724=)
c.2788C>A (p.Arg930=)
 dbSNP gnomAD v2 gnomAD v4
9g.137813396C=CA1884685867EHMT1c.3046C= (p.Arg1016=)
c.2932C= (p.Arg978=)
c.2953C= (p.Arg985=)
c.3086C= (n.3086C=)
c.940C= (p.Arg314=)
c.1903C= (p.Arg635=)
c.733C=
n.572C=
c.3037C= (p.Arg1013=)
c.3028C= (p.Arg1010=)
c.3055C= (p.Arg1019=)
c.3052C= (p.Arg1018=)
c.3034C= (p.Arg1012=)
c.2977C= (p.Arg993=)
c.2911C= (p.Arg971=)
c.1477C= (p.Arg493=)
c.829C= (p.Arg277=)
c.616C= (p.Arg206=)
c.2890C= (p.Arg964=)
c.3025C= (p.Arg1009=)
c.3031C= (p.Arg1011=)
c.2947C= (p.Arg983=)
c.2875C= (p.Arg959=)
c.2809C= (p.Arg937=)
c.2170C= (p.Arg724=)
c.2788C= (p.Arg930=)
9g.137813396C>GCA375793822EHMT1c.3046C>G (p.Arg1016Gly)
c.2932C>G (p.Arg978Gly)
c.2953C>G (p.Arg985Gly)
c.3086C>G (n.3086C>G)
c.940C>G (p.Arg314Gly)
c.1903C>G (p.Arg635Gly)
c.733C>G
n.572C>G
c.3037C>G (p.Arg1013Gly)
c.3028C>G (p.Arg1010Gly)
c.3055C>G (p.Arg1019Gly)
c.3052C>G (p.Arg1018Gly)
c.3034C>G (p.Arg1012Gly)
c.2977C>G (p.Arg993Gly)
c.2911C>G (p.Arg971Gly)
c.1477C>G (p.Arg493Gly)
c.829C>G (p.Arg277Gly)
c.616C>G (p.Arg206Gly)
c.2890C>G (p.Arg964Gly)
c.3025C>G (p.Arg1009Gly)
c.3031C>G (p.Arg1011Gly)
c.2947C>G (p.Arg983Gly)
c.2875C>G (p.Arg959Gly)
c.2809C>G (p.Arg937Gly)
c.2170C>G (p.Arg724Gly)
c.2788C>G (p.Arg930Gly)
9g.137813396C>TCA375793823EHMT1c.3046C>T (p.Arg1016Ter)
c.2932C>T (p.Arg978Ter)
c.2953C>T (p.Arg985Ter)
c.3086C>T (n.3086C>T)
c.940C>T (p.Arg314Ter)
c.1903C>T (p.Arg635Ter)
c.733C>T
n.572C>T
c.3037C>T (p.Arg1013Ter)
c.3028C>T (p.Arg1010Ter)
c.3055C>T (p.Arg1019Ter)
c.3052C>T (p.Arg1018Ter)
c.3034C>T (p.Arg1012Ter)
c.2977C>T (p.Arg993Ter)
c.2911C>T (p.Arg971Ter)
c.1477C>T (p.Arg493Ter)
c.829C>T (p.Arg277Ter)
c.616C>T (p.Arg206Ter)
c.2890C>T (p.Arg964Ter)
c.3025C>T (p.Arg1009Ter)
c.3031C>T (p.Arg1011Ter)
c.2947C>T (p.Arg983Ter)
c.2875C>T (p.Arg959Ter)
c.2809C>T (p.Arg937Ter)
c.2170C>T (p.Arg724Ter)
c.2788C>T (p.Arg930Ter)
 ClinVar dbSNP
9g.137813397G>ACA375793831EHMT1c.3047G>A (p.Arg1016Gln)
c.2933G>A (p.Arg978Gln)
c.2954G>A (p.Arg985Gln)
c.3087G>A (n.3087G>A)
c.941G>A (p.Arg314Gln)
c.1904G>A (p.Arg635Gln)
c.734G>A
n.573G>A
c.3038G>A (p.Arg1013Gln)
c.3029G>A (p.Arg1010Gln)
c.3056G>A (p.Arg1019Gln)
c.3053G>A (p.Arg1018Gln)
c.3035G>A (p.Arg1012Gln)
c.2978G>A (p.Arg993Gln)
c.2912G>A (p.Arg971Gln)
c.1478G>A (p.Arg493Gln)
c.830G>A (p.Arg277Gln)
c.617G>A (p.Arg206Gln)
c.2891G>A (p.Arg964Gln)
c.3026G>A (p.Arg1009Gln)
c.3032G>A (p.Arg1011Gln)
c.2948G>A (p.Arg983Gln)
c.2876G>A (p.Arg959Gln)
c.2810G>A (p.Arg937Gln)
c.2171G>A (p.Arg724Gln)
c.2789G>A (p.Arg930Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.137813397G>CCA375793828EHMT1c.3047G>C (p.Arg1016Pro)
c.2933G>C (p.Arg978Pro)
c.2954G>C (p.Arg985Pro)
c.3087G>C (n.3087G>C)
c.941G>C (p.Arg314Pro)
c.1904G>C (p.Arg635Pro)
c.734G>C
n.573G>C
c.3038G>C (p.Arg1013Pro)
c.3029G>C (p.Arg1010Pro)
c.3056G>C (p.Arg1019Pro)
c.3053G>C (p.Arg1018Pro)
c.3035G>C (p.Arg1012Pro)
c.2978G>C (p.Arg993Pro)
c.2912G>C (p.Arg971Pro)
c.1478G>C (p.Arg493Pro)
c.830G>C (p.Arg277Pro)
c.617G>C (p.Arg206Pro)
c.2891G>C (p.Arg964Pro)
c.3026G>C (p.Arg1009Pro)
c.3032G>C (p.Arg1011Pro)
c.2948G>C (p.Arg983Pro)
c.2876G>C (p.Arg959Pro)
c.2810G>C (p.Arg937Pro)
c.2171G>C (p.Arg724Pro)
c.2789G>C (p.Arg930Pro)
9g.137813397G=CA1884685868EHMT1c.3047G= (p.Arg1016=)
c.2933G= (p.Arg978=)
c.2954G= (p.Arg985=)
c.3087G= (n.3087G=)
c.941G= (p.Arg314=)
c.1904G= (p.Arg635=)
c.734G=
n.573G=
c.3038G= (p.Arg1013=)
c.3029G= (p.Arg1010=)
c.3056G= (p.Arg1019=)
c.3053G= (p.Arg1018=)
c.3035G= (p.Arg1012=)
c.2978G= (p.Arg993=)
c.2912G= (p.Arg971=)
c.1478G= (p.Arg493=)
c.830G= (p.Arg277=)
c.617G= (p.Arg206=)
c.2891G= (p.Arg964=)
c.3026G= (p.Arg1009=)
c.3032G= (p.Arg1011=)
c.2948G= (p.Arg983=)
c.2876G= (p.Arg959=)
c.2810G= (p.Arg937=)
c.2171G= (p.Arg724=)
c.2789G= (p.Arg930=)
9g.137813397G>TCA375793825EHMT1c.3047G>T (p.Arg1016Leu)
c.2933G>T (p.Arg978Leu)
c.2954G>T (p.Arg985Leu)
c.3087G>T (n.3087G>T)
c.941G>T (p.Arg314Leu)
c.1904G>T (p.Arg635Leu)
c.734G>T
n.573G>T
c.3038G>T (p.Arg1013Leu)
c.3029G>T (p.Arg1010Leu)
c.3056G>T (p.Arg1019Leu)
c.3053G>T (p.Arg1018Leu)
c.3035G>T (p.Arg1012Leu)
c.2978G>T (p.Arg993Leu)
c.2912G>T (p.Arg971Leu)
c.1478G>T (p.Arg493Leu)
c.830G>T (p.Arg277Leu)
c.617G>T (p.Arg206Leu)
c.2891G>T (p.Arg964Leu)
c.3026G>T (p.Arg1009Leu)
c.3032G>T (p.Arg1011Leu)
c.2948G>T (p.Arg983Leu)
c.2876G>T (p.Arg959Leu)
c.2810G>T (p.Arg937Leu)
c.2171G>T (p.Arg724Leu)
c.2789G>T (p.Arg930Leu)
9g.137813398A>CCA468161402EHMT1c.3048A>C (p.Arg1016=)
c.2934A>C (p.Arg978=)
c.2955A>C (p.Arg985=)
c.3088A>C (n.3088A>C)
c.942A>C (p.Arg314=)
c.1905A>C (p.Arg635=)
c.735A>C
n.574A>C
c.3039A>C (p.Arg1013=)
c.3030A>C (p.Arg1010=)
c.3057A>C (p.Arg1019=)
c.3054A>C (p.Arg1018=)
c.3036A>C (p.Arg1012=)
c.2979A>C (p.Arg993=)
c.2913A>C (p.Arg971=)
c.1479A>C (p.Arg493=)
c.831A>C (p.Arg277=)
c.618A>C (p.Arg206=)
c.2892A>C (p.Arg964=)
c.3027A>C (p.Arg1009=)
c.3033A>C (p.Arg1011=)
c.2949A>C (p.Arg983=)
c.2877A>C (p.Arg959=)
c.2811A>C (p.Arg937=)
c.2172A>C (p.Arg724=)
c.2790A>C (p.Arg930=)
9g.137813398A>GCA468161403EHMT1c.3048A>G (p.Arg1016=)
c.2934A>G (p.Arg978=)
c.2955A>G (p.Arg985=)
c.3088A>G (n.3088A>G)
c.942A>G (p.Arg314=)
c.1905A>G (p.Arg635=)
c.735A>G
n.574A>G
c.3039A>G (p.Arg1013=)
c.3030A>G (p.Arg1010=)
c.3057A>G (p.Arg1019=)
c.3054A>G (p.Arg1018=)
c.3036A>G (p.Arg1012=)
c.2979A>G (p.Arg993=)
c.2913A>G (p.Arg971=)
c.1479A>G (p.Arg493=)
c.831A>G (p.Arg277=)
c.618A>G (p.Arg206=)
c.2892A>G (p.Arg964=)
c.3027A>G (p.Arg1009=)
c.3033A>G (p.Arg1011=)
c.2949A>G (p.Arg983=)
c.2877A>G (p.Arg959=)
c.2811A>G (p.Arg937=)
c.2172A>G (p.Arg724=)
c.2790A>G (p.Arg930=)
 gnomAD v4
9g.137813398A>TCA468161404EHMT1c.3048A>T (p.Arg1016=)
c.2934A>T (p.Arg978=)
c.2955A>T (p.Arg985=)
c.3088A>T (n.3088A>T)
c.942A>T (p.Arg314=)
c.1905A>T (p.Arg635=)
c.735A>T
n.574A>T
c.3039A>T (p.Arg1013=)
c.3030A>T (p.Arg1010=)
c.3057A>T (p.Arg1019=)
c.3054A>T (p.Arg1018=)
c.3036A>T (p.Arg1012=)
c.2979A>T (p.Arg993=)
c.2913A>T (p.Arg971=)
c.1479A>T (p.Arg493=)
c.831A>T (p.Arg277=)
c.618A>T (p.Arg206=)
c.2892A>T (p.Arg964=)
c.3027A>T (p.Arg1009=)
c.3033A>T (p.Arg1011=)
c.2949A>T (p.Arg983=)
c.2877A>T (p.Arg959=)
c.2811A>T (p.Arg937=)
c.2172A>T (p.Arg724=)
c.2790A>T (p.Arg930=)
9g.137813399G>ACA375793833EHMT1c.3049G>A (p.Gly1017Ser)
c.2935G>A (p.Gly979Ser)
c.2956G>A (p.Gly986Ser)
c.3089G>A (n.3089G>A)
c.943G>A (p.Gly315Ser)
c.1906G>A (p.Gly636Ser)
c.736G>A
n.575G>A
c.3040G>A (p.Gly1014Ser)
c.3031G>A (p.Gly1011Ser)
c.3058G>A (p.Gly1020Ser)
c.3055G>A (p.Gly1019Ser)
c.3037G>A (p.Gly1013Ser)
c.2980G>A (p.Gly994Ser)
c.2914G>A (p.Gly972Ser)
c.1480G>A (p.Gly494Ser)
c.832G>A (p.Gly278Ser)
c.619G>A (p.Gly207Ser)
c.2893G>A (p.Gly965Ser)
c.3028G>A (p.Gly1010Ser)
c.3034G>A (p.Gly1012Ser)
c.2950G>A (p.Gly984Ser)
c.2878G>A (p.Gly960Ser)
c.2812G>A (p.Gly938Ser)
c.2173G>A (p.Gly725Ser)
c.2791G>A (p.Gly931Ser)
 gnomAD v4
9g.137813399G>CCA375793834EHMT1c.3049G>C (p.Gly1017Arg)
c.2935G>C (p.Gly979Arg)
c.2956G>C (p.Gly986Arg)
c.3089G>C (n.3089G>C)
c.943G>C (p.Gly315Arg)
c.1906G>C (p.Gly636Arg)
c.736G>C
n.575G>C
c.3040G>C (p.Gly1014Arg)
c.3031G>C (p.Gly1011Arg)
c.3058G>C (p.Gly1020Arg)
c.3055G>C (p.Gly1019Arg)
c.3037G>C (p.Gly1013Arg)
c.2980G>C (p.Gly994Arg)
c.2914G>C (p.Gly972Arg)
c.1480G>C (p.Gly494Arg)
c.832G>C (p.Gly278Arg)
c.619G>C (p.Gly207Arg)
c.2893G>C (p.Gly965Arg)
c.3028G>C (p.Gly1010Arg)
c.3034G>C (p.Gly1012Arg)
c.2950G>C (p.Gly984Arg)
c.2878G>C (p.Gly960Arg)
c.2812G>C (p.Gly938Arg)
c.2173G>C (p.Gly725Arg)
c.2791G>C (p.Gly931Arg)
9g.137813399G>TCA375793837EHMT1c.3049G>T (p.Gly1017Cys)
c.2935G>T (p.Gly979Cys)
c.2956G>T (p.Gly986Cys)
c.3089G>T (n.3089G>T)
c.943G>T (p.Gly315Cys)
c.1906G>T (p.Gly636Cys)
c.736G>T
n.575G>T
c.3040G>T (p.Gly1014Cys)
c.3031G>T (p.Gly1011Cys)
c.3058G>T (p.Gly1020Cys)
c.3055G>T (p.Gly1019Cys)
c.3037G>T (p.Gly1013Cys)
c.2980G>T (p.Gly994Cys)
c.2914G>T (p.Gly972Cys)
c.1480G>T (p.Gly494Cys)
c.832G>T (p.Gly278Cys)
c.619G>T (p.Gly207Cys)
c.2893G>T (p.Gly965Cys)
c.3028G>T (p.Gly1010Cys)
c.3034G>T (p.Gly1012Cys)
c.2950G>T (p.Gly984Cys)
c.2878G>T (p.Gly960Cys)
c.2812G>T (p.Gly938Cys)
c.2173G>T (p.Gly725Cys)
c.2791G>T (p.Gly931Cys)
9g.137813400G>ACA375793840EHMT1c.3050G>A (p.Gly1017Asp)
c.2936G>A (p.Gly979Asp)
c.2957G>A (p.Gly986Asp)
c.3090G>A (n.3090G>A)
c.944G>A (p.Gly315Asp)
c.1907G>A (p.Gly636Asp)
c.737G>A
n.576G>A
c.3041G>A (p.Gly1014Asp)
c.3032G>A (p.Gly1011Asp)
c.3059G>A (p.Gly1020Asp)
c.3056G>A (p.Gly1019Asp)
c.3038G>A (p.Gly1013Asp)
c.2981G>A (p.Gly994Asp)
c.2915G>A (p.Gly972Asp)
c.1481G>A (p.Gly494Asp)
c.833G>A (p.Gly278Asp)
c.620G>A (p.Gly207Asp)
c.2894G>A (p.Gly965Asp)
c.3029G>A (p.Gly1010Asp)
c.3035G>A (p.Gly1012Asp)
c.2951G>A (p.Gly984Asp)
c.2879G>A (p.Gly960Asp)
c.2813G>A (p.Gly938Asp)
c.2174G>A (p.Gly725Asp)
c.2792G>A (p.Gly931Asp)
9g.137813400G>CCA375793842EHMT1c.3050G>C (p.Gly1017Ala)
c.2936G>C (p.Gly979Ala)
c.2957G>C (p.Gly986Ala)
c.3090G>C (n.3090G>C)
c.944G>C (p.Gly315Ala)
c.1907G>C (p.Gly636Ala)
c.737G>C
n.576G>C
c.3041G>C (p.Gly1014Ala)
c.3032G>C (p.Gly1011Ala)
c.3059G>C (p.Gly1020Ala)
c.3056G>C (p.Gly1019Ala)
c.3038G>C (p.Gly1013Ala)
c.2981G>C (p.Gly994Ala)
c.2915G>C (p.Gly972Ala)
c.1481G>C (p.Gly494Ala)
c.833G>C (p.Gly278Ala)
c.620G>C (p.Gly207Ala)
c.2894G>C (p.Gly965Ala)
c.3029G>C (p.Gly1010Ala)
c.3035G>C (p.Gly1012Ala)
c.2951G>C (p.Gly984Ala)
c.2879G>C (p.Gly960Ala)
c.2813G>C (p.Gly938Ala)
c.2174G>C (p.Gly725Ala)
c.2792G>C (p.Gly931Ala)
 gnomAD v4
9g.137813400G>TCA375793844EHMT1c.3050G>T (p.Gly1017Val)
c.2936G>T (p.Gly979Val)
c.2957G>T (p.Gly986Val)
c.3090G>T (n.3090G>T)
c.944G>T (p.Gly315Val)
c.1907G>T (p.Gly636Val)
c.737G>T
n.576G>T
c.3041G>T (p.Gly1014Val)
c.3032G>T (p.Gly1011Val)
c.3059G>T (p.Gly1020Val)
c.3056G>T (p.Gly1019Val)
c.3038G>T (p.Gly1013Val)
c.2981G>T (p.Gly994Val)
c.2915G>T (p.Gly972Val)
c.1481G>T (p.Gly494Val)
c.833G>T (p.Gly278Val)
c.620G>T (p.Gly207Val)
c.2894G>T (p.Gly965Val)
c.3029G>T (p.Gly1010Val)
c.3035G>T (p.Gly1012Val)
c.2951G>T (p.Gly984Val)
c.2879G>T (p.Gly960Val)
c.2813G>T (p.Gly938Val)
c.2174G>T (p.Gly725Val)
c.2792G>T (p.Gly931Val)
 gnomAD v4
9g.137813401C>ACA468161405EHMT1c.3051C>A (p.Gly1017=)
c.2937C>A (p.Gly979=)
c.2958C>A (p.Gly986=)
c.3091C>A (n.3091C>A)
c.945C>A (p.Gly315=)
c.1908C>A (p.Gly636=)
c.738C>A
n.577C>A
c.3042C>A (p.Gly1014=)
c.3033C>A (p.Gly1011=)
c.3060C>A (p.Gly1020=)
c.3057C>A (p.Gly1019=)
c.3039C>A (p.Gly1013=)
c.2982C>A (p.Gly994=)
c.2916C>A (p.Gly972=)
c.1482C>A (p.Gly494=)
c.834C>A (p.Gly278=)
c.621C>A (p.Gly207=)
c.2895C>A (p.Gly965=)
c.3030C>A (p.Gly1010=)
c.3036C>A (p.Gly1012=)
c.2952C>A (p.Gly984=)
c.2880C>A (p.Gly960=)
c.2814C>A (p.Gly938=)
c.2175C>A (p.Gly725=)
c.2793C>A (p.Gly931=)
9g.137813401C>GCA468161406EHMT1c.3051C>G (p.Gly1017=)
c.2937C>G (p.Gly979=)
c.2958C>G (p.Gly986=)
c.3091C>G (n.3091C>G)
c.945C>G (p.Gly315=)
c.1908C>G (p.Gly636=)
c.738C>G
n.577C>G
c.3042C>G (p.Gly1014=)
c.3033C>G (p.Gly1011=)
c.3060C>G (p.Gly1020=)
c.3057C>G (p.Gly1019=)
c.3039C>G (p.Gly1013=)
c.2982C>G (p.Gly994=)
c.2916C>G (p.Gly972=)
c.1482C>G (p.Gly494=)
c.834C>G (p.Gly278=)
c.621C>G (p.Gly207=)
c.2895C>G (p.Gly965=)
c.3030C>G (p.Gly1010=)
c.3036C>G (p.Gly1012=)
c.2952C>G (p.Gly984=)
c.2880C>G (p.Gly960=)
c.2814C>G (p.Gly938=)
c.2175C>G (p.Gly725=)
c.2793C>G (p.Gly931=)
 gnomAD v4
9g.137813401C>TCA468161407EHMT1c.3051C>T (p.Gly1017=)
c.2937C>T (p.Gly979=)
c.2958C>T (p.Gly986=)
c.3091C>T (n.3091C>T)
c.945C>T (p.Gly315=)
c.1908C>T (p.Gly636=)
c.738C>T
n.577C>T
c.3042C>T (p.Gly1014=)
c.3033C>T (p.Gly1011=)
c.3060C>T (p.Gly1020=)
c.3057C>T (p.Gly1019=)
c.3039C>T (p.Gly1013=)
c.2982C>T (p.Gly994=)
c.2916C>T (p.Gly972=)
c.1482C>T (p.Gly494=)
c.834C>T (p.Gly278=)
c.621C>T (p.Gly207=)
c.2895C>T (p.Gly965=)
c.3030C>T (p.Gly1010=)
c.3036C>T (p.Gly1012=)
c.2952C>T (p.Gly984=)
c.2880C>T (p.Gly960=)
c.2814C>T (p.Gly938=)
c.2175C>T (p.Gly725=)
c.2793C>T (p.Gly931=)
 gnomAD v4
9g.137813402delCA2692890797EHMT1c.3052del (p.Tyr1018ThrfsTer29)
c.2938del (p.Tyr980ThrfsTer?)
c.2959del (p.Tyr987ThrfsTer29)
c.3092del (n.3092del)
c.946del (p.Tyr316ThrfsTer29)
c.1909del (p.Tyr637ThrfsTer29)
c.739del
n.578del
c.3043del (p.Tyr1015ThrfsTer29)
c.3034del (p.Tyr1012ThrfsTer29)
c.3061del (p.Tyr1021ThrfsTer29)
c.3058del (p.Tyr1020ThrfsTer29)
c.3040del (p.Tyr1014ThrfsTer29)
c.2983del (p.Tyr995ThrfsTer29)
c.2917del (p.Tyr973ThrfsTer29)
c.1483del (p.Tyr495ThrfsTer29)
c.835del (p.Tyr279ThrfsTer29)
c.622del (p.Tyr208ThrfsTer29)
c.2896del (p.Tyr966ThrfsTer29)
c.3031del (p.Tyr1011ThrfsTer29)
c.3037del (p.Tyr1013ThrfsTer29)
c.2953del (p.Tyr985ThrfsTer29)
c.2938del (p.Tyr980ThrfsTer29)
c.2881del (p.Tyr961ThrfsTer29)
c.2815del (p.Tyr939ThrfsTer29)
c.2176del (p.Tyr726ThrfsTer29)
c.2794del (p.Tyr932ThrfsTer29)
 gnomAD v4
9g.137813402T>ACA375793850EHMT1c.3052T>A (p.Tyr1018Asn)
c.2938T>A (p.Tyr980Asn)
c.2959T>A (p.Tyr987Asn)
c.3092T>A (n.3092T>A)
c.946T>A (p.Tyr316Asn)
c.1909T>A (p.Tyr637Asn)
c.739T>A
n.578T>A
c.3043T>A (p.Tyr1015Asn)
c.3034T>A (p.Tyr1012Asn)
c.3061T>A (p.Tyr1021Asn)
c.3058T>A (p.Tyr1020Asn)
c.3040T>A (p.Tyr1014Asn)
c.2983T>A (p.Tyr995Asn)
c.2917T>A (p.Tyr973Asn)
c.1483T>A (p.Tyr495Asn)
c.835T>A (p.Tyr279Asn)
c.622T>A (p.Tyr208Asn)
c.2896T>A (p.Tyr966Asn)
c.3031T>A (p.Tyr1011Asn)
c.3037T>A (p.Tyr1013Asn)
c.2953T>A (p.Tyr985Asn)
c.2881T>A (p.Tyr961Asn)
c.2815T>A (p.Tyr939Asn)
c.2176T>A (p.Tyr726Asn)
c.2794T>A (p.Tyr932Asn)
9g.137813402T>CCA375793849EHMT1c.3052T>C (p.Tyr1018His)
c.2938T>C (p.Tyr980His)
c.2959T>C (p.Tyr987His)
c.3092T>C (n.3092T>C)
c.946T>C (p.Tyr316His)
c.1909T>C (p.Tyr637His)
c.739T>C
n.578T>C
c.3043T>C (p.Tyr1015His)
c.3034T>C (p.Tyr1012His)
c.3061T>C (p.Tyr1021His)
c.3058T>C (p.Tyr1020His)
c.3040T>C (p.Tyr1014His)
c.2983T>C (p.Tyr995His)
c.2917T>C (p.Tyr973His)
c.1483T>C (p.Tyr495His)
c.835T>C (p.Tyr279His)
c.622T>C (p.Tyr208His)
c.2896T>C (p.Tyr966His)
c.3031T>C (p.Tyr1011His)
c.3037T>C (p.Tyr1013His)
c.2953T>C (p.Tyr985His)
c.2881T>C (p.Tyr961His)
c.2815T>C (p.Tyr939His)
c.2176T>C (p.Tyr726His)
c.2794T>C (p.Tyr932His)
 dbSNP gnomAD v3 gnomAD v4
9g.137813402T>GCA375793846EHMT1c.3052T>G (p.Tyr1018Asp)
c.2938T>G (p.Tyr980Asp)
c.2959T>G (p.Tyr987Asp)
c.3092T>G (n.3092T>G)
c.946T>G (p.Tyr316Asp)
c.1909T>G (p.Tyr637Asp)
c.739T>G
n.578T>G
c.3043T>G (p.Tyr1015Asp)
c.3034T>G (p.Tyr1012Asp)
c.3061T>G (p.Tyr1021Asp)
c.3058T>G (p.Tyr1020Asp)
c.3040T>G (p.Tyr1014Asp)
c.2983T>G (p.Tyr995Asp)
c.2917T>G (p.Tyr973Asp)
c.1483T>G (p.Tyr495Asp)
c.835T>G (p.Tyr279Asp)
c.622T>G (p.Tyr208Asp)
c.2896T>G (p.Tyr966Asp)
c.3031T>G (p.Tyr1011Asp)
c.3037T>G (p.Tyr1013Asp)
c.2953T>G (p.Tyr985Asp)
c.2881T>G (p.Tyr961Asp)
c.2815T>G (p.Tyr939Asp)
c.2176T>G (p.Tyr726Asp)
c.2794T>G (p.Tyr932Asp)
9g.137813402T=CA1884685869EHMT1c.3052T= (p.Tyr1018=)
c.2938T= (p.Tyr980=)
c.2959T= (p.Tyr987=)
c.3092T= (n.3092T=)
c.946T= (p.Tyr316=)
c.1909T= (p.Tyr637=)
c.739T=
n.578T=
c.3043T= (p.Tyr1015=)
c.3034T= (p.Tyr1012=)
c.3061T= (p.Tyr1021=)
c.3058T= (p.Tyr1020=)
c.3040T= (p.Tyr1014=)
c.2983T= (p.Tyr995=)
c.2917T= (p.Tyr973=)
c.1483T= (p.Tyr495=)
c.835T= (p.Tyr279=)
c.622T= (p.Tyr208=)
c.2896T= (p.Tyr966=)
c.3031T= (p.Tyr1011=)
c.3037T= (p.Tyr1013=)
c.2953T= (p.Tyr985=)
c.2881T= (p.Tyr961=)
c.2815T= (p.Tyr939=)
c.2176T= (p.Tyr726=)
c.2794T= (p.Tyr932=)
9g.137813403A>CCA375793853EHMT1c.3053A>C (p.Tyr1018Ser)
c.2939A>C (p.Tyr980Ser)
c.2960A>C (p.Tyr987Ser)
c.3093A>C (n.3093A>C)
c.947A>C (p.Tyr316Ser)
c.1910A>C (p.Tyr637Ser)
c.740A>C
n.579A>C
c.3044A>C (p.Tyr1015Ser)
c.3035A>C (p.Tyr1012Ser)
c.3062A>C (p.Tyr1021Ser)
c.3059A>C (p.Tyr1020Ser)
c.3041A>C (p.Tyr1014Ser)
c.2984A>C (p.Tyr995Ser)
c.2918A>C (p.Tyr973Ser)
c.1484A>C (p.Tyr495Ser)
c.836A>C (p.Tyr279Ser)
c.623A>C (p.Tyr208Ser)
c.2897A>C (p.Tyr966Ser)
c.3032A>C (p.Tyr1011Ser)
c.3038A>C (p.Tyr1013Ser)
c.2954A>C (p.Tyr985Ser)
c.2882A>C (p.Tyr961Ser)
c.2816A>C (p.Tyr939Ser)
c.2177A>C (p.Tyr726Ser)
c.2795A>C (p.Tyr932Ser)
9g.137813403A>GCA375793855EHMT1c.3053A>G (p.Tyr1018Cys)
c.2939A>G (p.Tyr980Cys)
c.2960A>G (p.Tyr987Cys)
c.3093A>G (n.3093A>G)
c.947A>G (p.Tyr316Cys)
c.1910A>G (p.Tyr637Cys)
c.740A>G
n.579A>G
c.3044A>G (p.Tyr1015Cys)
c.3035A>G (p.Tyr1012Cys)
c.3062A>G (p.Tyr1021Cys)
c.3059A>G (p.Tyr1020Cys)
c.3041A>G (p.Tyr1014Cys)
c.2984A>G (p.Tyr995Cys)
c.2918A>G (p.Tyr973Cys)
c.1484A>G (p.Tyr495Cys)
c.836A>G (p.Tyr279Cys)
c.623A>G (p.Tyr208Cys)
c.2897A>G (p.Tyr966Cys)
c.3032A>G (p.Tyr1011Cys)
c.3038A>G (p.Tyr1013Cys)
c.2954A>G (p.Tyr985Cys)
c.2882A>G (p.Tyr961Cys)
c.2816A>G (p.Tyr939Cys)
c.2177A>G (p.Tyr726Cys)
c.2795A>G (p.Tyr932Cys)
 ClinVar dbSNP
9g.137813403A>TCA375793861EHMT1c.3053A>T (p.Tyr1018Phe)
c.2939A>T (p.Tyr980Phe)
c.2960A>T (p.Tyr987Phe)
c.3093A>T (n.3093A>T)
c.947A>T (p.Tyr316Phe)
c.1910A>T (p.Tyr637Phe)
c.740A>T
n.579A>T
c.3044A>T (p.Tyr1015Phe)
c.3035A>T (p.Tyr1012Phe)
c.3062A>T (p.Tyr1021Phe)
c.3059A>T (p.Tyr1020Phe)
c.3041A>T (p.Tyr1014Phe)
c.2984A>T (p.Tyr995Phe)
c.2918A>T (p.Tyr973Phe)
c.1484A>T (p.Tyr495Phe)
c.836A>T (p.Tyr279Phe)
c.623A>T (p.Tyr208Phe)
c.2897A>T (p.Tyr966Phe)
c.3032A>T (p.Tyr1011Phe)
c.3038A>T (p.Tyr1013Phe)
c.2954A>T (p.Tyr985Phe)
c.2882A>T (p.Tyr961Phe)
c.2816A>T (p.Tyr939Phe)
c.2177A>T (p.Tyr726Phe)
c.2795A>T (p.Tyr932Phe)
9g.137813404C>ACA375793865EHMT1c.3054C>A (p.Tyr1018Ter)
c.2940C>A (p.Tyr980Ter)
c.2961C>A (p.Tyr987Ter)
c.3094C>A (n.3094C>A)
c.948C>A (p.Tyr316Ter)
c.1911C>A (p.Tyr637Ter)
c.741C>A
n.580C>A
c.3045C>A (p.Tyr1015Ter)
c.3036C>A (p.Tyr1012Ter)
c.3063C>A (p.Tyr1021Ter)
c.3060C>A (p.Tyr1020Ter)
c.3042C>A (p.Tyr1014Ter)
c.2985C>A (p.Tyr995Ter)
c.2919C>A (p.Tyr973Ter)
c.1485C>A (p.Tyr495Ter)
c.837C>A (p.Tyr279Ter)
c.624C>A (p.Tyr208Ter)
c.2898C>A (p.Tyr966Ter)
c.3033C>A (p.Tyr1011Ter)
c.3039C>A (p.Tyr1013Ter)
c.2955C>A (p.Tyr985Ter)
c.2883C>A (p.Tyr961Ter)
c.2817C>A (p.Tyr939Ter)
c.2178C>A (p.Tyr726Ter)
c.2796C>A (p.Tyr932Ter)
9g.137813404C=CA1884685870EHMT1c.3054C= (p.Tyr1018=)
c.2940C= (p.Tyr980=)
c.2961C= (p.Tyr987=)
c.3094C= (n.3094C=)
c.948C= (p.Tyr316=)
c.1911C= (p.Tyr637=)
c.741C=
n.580C=
c.3045C= (p.Tyr1015=)
c.3036C= (p.Tyr1012=)
c.3063C= (p.Tyr1021=)
c.3060C= (p.Tyr1020=)
c.3042C= (p.Tyr1014=)
c.2985C= (p.Tyr995=)
c.2919C= (p.Tyr973=)
c.1485C= (p.Tyr495=)
c.837C= (p.Tyr279=)
c.624C= (p.Tyr208=)
c.2898C= (p.Tyr966=)
c.3033C= (p.Tyr1011=)
c.3039C= (p.Tyr1013=)
c.2955C= (p.Tyr985=)
c.2883C= (p.Tyr961=)
c.2817C= (p.Tyr939=)
c.2178C= (p.Tyr726=)
c.2796C= (p.Tyr932=)
9g.137813404C>GCA375793868EHMT1c.3054C>G (p.Tyr1018Ter)
c.2940C>G (p.Tyr980Ter)
c.2961C>G (p.Tyr987Ter)
c.3094C>G (n.3094C>G)
c.948C>G (p.Tyr316Ter)
c.1911C>G (p.Tyr637Ter)
c.741C>G
n.580C>G
c.3045C>G (p.Tyr1015Ter)
c.3036C>G (p.Tyr1012Ter)
c.3063C>G (p.Tyr1021Ter)
c.3060C>G (p.Tyr1020Ter)
c.3042C>G (p.Tyr1014Ter)
c.2985C>G (p.Tyr995Ter)
c.2919C>G (p.Tyr973Ter)
c.1485C>G (p.Tyr495Ter)
c.837C>G (p.Tyr279Ter)
c.624C>G (p.Tyr208Ter)
c.2898C>G (p.Tyr966Ter)
c.3033C>G (p.Tyr1011Ter)
c.3039C>G (p.Tyr1013Ter)
c.2955C>G (p.Tyr985Ter)
c.2883C>G (p.Tyr961Ter)
c.2817C>G (p.Tyr939Ter)
c.2178C>G (p.Tyr726Ter)
c.2796C>G (p.Tyr932Ter)
9g.137813404C>TCA5375152EHMT1c.3054C>T (p.Tyr1018=)
c.2940C>T (p.Tyr980=)
c.2961C>T (p.Tyr987=)
c.3094C>T (n.3094C>T)
c.948C>T (p.Tyr316=)
c.1911C>T (p.Tyr637=)
c.741C>T
n.580C>T
c.3045C>T (p.Tyr1015=)
c.3036C>T (p.Tyr1012=)
c.3063C>T (p.Tyr1021=)
c.3060C>T (p.Tyr1020=)
c.3042C>T (p.Tyr1014=)
c.2985C>T (p.Tyr995=)
c.2919C>T (p.Tyr973=)
c.1485C>T (p.Tyr495=)
c.837C>T (p.Tyr279=)
c.624C>T (p.Tyr208=)
c.2898C>T (p.Tyr966=)
c.3033C>T (p.Tyr1011=)
c.3039C>T (p.Tyr1013=)
c.2955C>T (p.Tyr985=)
c.2883C>T (p.Tyr961=)
c.2817C>T (p.Tyr939=)
c.2178C>T (p.Tyr726=)
c.2796C>T (p.Tyr932=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813405G>ACA375793872EHMT1c.3055G>A (p.Glu1019Lys)
c.2941G>A (p.Glu981Lys)
c.2962G>A (p.Glu988Lys)
c.3095G>A (n.3095G>A)
c.949G>A (p.Glu317Lys)
c.1912G>A (p.Glu638Lys)
c.742G>A
n.581G>A
c.3046G>A (p.Glu1016Lys)
c.3037G>A (p.Glu1013Lys)
c.3064G>A (p.Glu1022Lys)
c.3061G>A (p.Glu1021Lys)
c.3043G>A (p.Glu1015Lys)
c.2986G>A (p.Glu996Lys)
c.2920G>A (p.Glu974Lys)
c.1486G>A (p.Glu496Lys)
c.838G>A (p.Glu280Lys)
c.625G>A (p.Glu209Lys)
c.2899G>A (p.Glu967Lys)
c.3034G>A (p.Glu1012Lys)
c.3040G>A (p.Glu1014Lys)
c.2956G>A (p.Glu986Lys)
c.2884G>A (p.Glu962Lys)
c.2818G>A (p.Glu940Lys)
c.2179G>A (p.Glu727Lys)
c.2797G>A (p.Glu933Lys)
 gnomAD v4
9g.137813405G>CCA375793878EHMT1c.3055G>C (p.Glu1019Gln)
c.2941G>C (p.Glu981Gln)
c.2962G>C (p.Glu988Gln)
c.3095G>C (n.3095G>C)
c.949G>C (p.Glu317Gln)
c.1912G>C (p.Glu638Gln)
c.742G>C
n.581G>C
c.3046G>C (p.Glu1016Gln)
c.3037G>C (p.Glu1013Gln)
c.3064G>C (p.Glu1022Gln)
c.3061G>C (p.Glu1021Gln)
c.3043G>C (p.Glu1015Gln)
c.2986G>C (p.Glu996Gln)
c.2920G>C (p.Glu974Gln)
c.1486G>C (p.Glu496Gln)
c.838G>C (p.Glu280Gln)
c.625G>C (p.Glu209Gln)
c.2899G>C (p.Glu967Gln)
c.3034G>C (p.Glu1012Gln)
c.3040G>C (p.Glu1014Gln)
c.2956G>C (p.Glu986Gln)
c.2884G>C (p.Glu962Gln)
c.2818G>C (p.Glu940Gln)
c.2179G>C (p.Glu727Gln)
c.2797G>C (p.Glu933Gln)
9g.137813405G>TCA375793873EHMT1c.3055G>T (p.Glu1019Ter)
c.2941G>T (p.Glu981Ter)
c.2962G>T (p.Glu988Ter)
c.3095G>T (n.3095G>T)
c.949G>T (p.Glu317Ter)
c.1912G>T (p.Glu638Ter)
c.742G>T
n.581G>T
c.3046G>T (p.Glu1016Ter)
c.3037G>T (p.Glu1013Ter)
c.3064G>T (p.Glu1022Ter)
c.3061G>T (p.Glu1021Ter)
c.3043G>T (p.Glu1015Ter)
c.2986G>T (p.Glu996Ter)
c.2920G>T (p.Glu974Ter)
c.1486G>T (p.Glu496Ter)
c.838G>T (p.Glu280Ter)
c.625G>T (p.Glu209Ter)
c.2899G>T (p.Glu967Ter)
c.3034G>T (p.Glu1012Ter)
c.3040G>T (p.Glu1014Ter)
c.2956G>T (p.Glu986Ter)
c.2884G>T (p.Glu962Ter)
c.2818G>T (p.Glu940Ter)
c.2179G>T (p.Glu727Ter)
c.2797G>T (p.Glu933Ter)
9g.137813406A>CCA375793880EHMT1c.3056A>C (p.Glu1019Ala)
c.2942A>C (p.Glu981Ala)
c.2963A>C (p.Glu988Ala)
c.3096A>C (n.3096A>C)
c.950A>C (p.Glu317Ala)
c.1913A>C (p.Glu638Ala)
c.743A>C
n.582A>C
c.3047A>C (p.Glu1016Ala)
c.3038A>C (p.Glu1013Ala)
c.3065A>C (p.Glu1022Ala)
c.3062A>C (p.Glu1021Ala)
c.3044A>C (p.Glu1015Ala)
c.2987A>C (p.Glu996Ala)
c.2921A>C (p.Glu974Ala)
c.1487A>C (p.Glu496Ala)
c.839A>C (p.Glu280Ala)
c.626A>C (p.Glu209Ala)
c.2900A>C (p.Glu967Ala)
c.3035A>C (p.Glu1012Ala)
c.3041A>C (p.Glu1014Ala)
c.2957A>C (p.Glu986Ala)
c.2885A>C (p.Glu962Ala)
c.2819A>C (p.Glu940Ala)
c.2180A>C (p.Glu727Ala)
c.2798A>C (p.Glu933Ala)
9g.137813406A>GCA375793882EHMT1c.3056A>G (p.Glu1019Gly)
c.2942A>G (p.Glu981Gly)
c.2963A>G (p.Glu988Gly)
c.3096A>G (n.3096A>G)
c.950A>G (p.Glu317Gly)
c.1913A>G (p.Glu638Gly)
c.743A>G
n.582A>G
c.3047A>G (p.Glu1016Gly)
c.3038A>G (p.Glu1013Gly)
c.3065A>G (p.Glu1022Gly)
c.3062A>G (p.Glu1021Gly)
c.3044A>G (p.Glu1015Gly)
c.2987A>G (p.Glu996Gly)
c.2921A>G (p.Glu974Gly)
c.1487A>G (p.Glu496Gly)
c.839A>G (p.Glu280Gly)
c.626A>G (p.Glu209Gly)
c.2900A>G (p.Glu967Gly)
c.3035A>G (p.Glu1012Gly)
c.3041A>G (p.Glu1014Gly)
c.2957A>G (p.Glu986Gly)
c.2885A>G (p.Glu962Gly)
c.2819A>G (p.Glu940Gly)
c.2180A>G (p.Glu727Gly)
c.2798A>G (p.Glu933Gly)
9g.137813406A>TCA375793885EHMT1c.3056A>T (p.Glu1019Val)
c.2942A>T (p.Glu981Val)
c.2963A>T (p.Glu988Val)
c.3096A>T (n.3096A>T)
c.950A>T (p.Glu317Val)
c.1913A>T (p.Glu638Val)
c.743A>T
n.582A>T
c.3047A>T (p.Glu1016Val)
c.3038A>T (p.Glu1013Val)
c.3065A>T (p.Glu1022Val)
c.3062A>T (p.Glu1021Val)
c.3044A>T (p.Glu1015Val)
c.2987A>T (p.Glu996Val)
c.2921A>T (p.Glu974Val)
c.1487A>T (p.Glu496Val)
c.839A>T (p.Glu280Val)
c.626A>T (p.Glu209Val)
c.2900A>T (p.Glu967Val)
c.3035A>T (p.Glu1012Val)
c.3041A>T (p.Glu1014Val)
c.2957A>T (p.Glu986Val)
c.2885A>T (p.Glu962Val)
c.2819A>T (p.Glu940Val)
c.2180A>T (p.Glu727Val)
c.2798A>T (p.Glu933Val)
9g.137813407G>ACA468161408EHMT1c.3057G>A (p.Glu1019=)
c.2943G>A (p.Glu981=)
c.2964G>A (p.Glu988=)
c.3097G>A (n.3097G>A)
c.951G>A (p.Glu317=)
c.1914G>A (p.Glu638=)
c.744G>A
n.583G>A
c.3048G>A (p.Glu1016=)
c.3039G>A (p.Glu1013=)
c.3066G>A (p.Glu1022=)
c.3063G>A (p.Glu1021=)
c.3045G>A (p.Glu1015=)
c.2988G>A (p.Glu996=)
c.2922G>A (p.Glu974=)
c.1488G>A (p.Glu496=)
c.840G>A (p.Glu280=)
c.627G>A (p.Glu209=)
c.2901G>A (p.Glu967=)
c.3036G>A (p.Glu1012=)
c.3042G>A (p.Glu1014=)
c.2958G>A (p.Glu986=)
c.2886G>A (p.Glu962=)
c.2820G>A (p.Glu940=)
c.2181G>A (p.Glu727=)
c.2799G>A (p.Glu933=)
 gnomAD v4
9g.137813407G>CCA375793886EHMT1c.3057G>C (p.Glu1019Asp)
c.2943G>C (p.Glu981Asp)
c.2964G>C (p.Glu988Asp)
c.3097G>C (n.3097G>C)
c.951G>C (p.Glu317Asp)
c.1914G>C (p.Glu638Asp)
c.744G>C
n.583G>C
c.3048G>C (p.Glu1016Asp)
c.3039G>C (p.Glu1013Asp)
c.3066G>C (p.Glu1022Asp)
c.3063G>C (p.Glu1021Asp)
c.3045G>C (p.Glu1015Asp)
c.2988G>C (p.Glu996Asp)
c.2922G>C (p.Glu974Asp)
c.1488G>C (p.Glu496Asp)
c.840G>C (p.Glu280Asp)
c.627G>C (p.Glu209Asp)
c.2901G>C (p.Glu967Asp)
c.3036G>C (p.Glu1012Asp)
c.3042G>C (p.Glu1014Asp)
c.2958G>C (p.Glu986Asp)
c.2886G>C (p.Glu962Asp)
c.2820G>C (p.Glu940Asp)
c.2181G>C (p.Glu727Asp)
c.2799G>C (p.Glu933Asp)
9g.137813407G>TCA375793888EHMT1c.3057G>T (p.Glu1019Asp)
c.2943G>T (p.Glu981Asp)
c.2964G>T (p.Glu988Asp)
c.3097G>T (n.3097G>T)
c.951G>T (p.Glu317Asp)
c.1914G>T (p.Glu638Asp)
c.744G>T
n.583G>T
c.3048G>T (p.Glu1016Asp)
c.3039G>T (p.Glu1013Asp)
c.3066G>T (p.Glu1022Asp)
c.3063G>T (p.Glu1021Asp)
c.3045G>T (p.Glu1015Asp)
c.2988G>T (p.Glu996Asp)
c.2922G>T (p.Glu974Asp)
c.1488G>T (p.Glu496Asp)
c.840G>T (p.Glu280Asp)
c.627G>T (p.Glu209Asp)
c.2901G>T (p.Glu967Asp)
c.3036G>T (p.Glu1012Asp)
c.3042G>T (p.Glu1014Asp)
c.2958G>T (p.Glu986Asp)
c.2886G>T (p.Glu962Asp)
c.2820G>T (p.Glu940Asp)
c.2181G>T (p.Glu727Asp)
c.2799G>T (p.Glu933Asp)
9g.137813408C>ACA375793890EHMT1c.3058C>A (p.Arg1020Ser)
c.2944C>A
c.2965C>A (p.Arg989Ser)
c.3098C>A (n.3098C>A)
c.952C>A (p.Arg318Ser)
c.1915C>A (p.Arg639Ser)
c.745C>A
n.584C>A
c.3049C>A (p.Arg1017Ser)
c.3040C>A (p.Arg1014Ser)
c.3067C>A (p.Arg1023Ser)
c.3064C>A (p.Arg1022Ser)
c.3046C>A (p.Arg1016Ser)
c.2989C>A (p.Arg997Ser)
c.2923C>A (p.Arg975Ser)
c.1489C>A (p.Arg497Ser)
c.841C>A (p.Arg281Ser)
c.628C>A (p.Arg210Ser)
c.2902C>A (p.Arg968Ser)
c.3037C>A (p.Arg1013Ser)
c.3043C>A (p.Arg1015Ser)
c.2959C>A (p.Arg987Ser)
c.2944C>A (p.Arg982Ser)
c.2887C>A (p.Arg963Ser)
c.2821C>A (p.Arg941Ser)
c.2182C>A (p.Arg728Ser)
c.2800C>A (p.Arg934Ser)
9g.137813408C=CA1884685871EHMT1c.3058C= (p.Arg1020=)
c.2944C=
c.2965C= (p.Arg989=)
c.3098C= (n.3098C=)
c.952C= (p.Arg318=)
c.1915C= (p.Arg639=)
c.745C=
n.584C=
c.3049C= (p.Arg1017=)
c.3040C= (p.Arg1014=)
c.3067C= (p.Arg1023=)
c.3064C= (p.Arg1022=)
c.3046C= (p.Arg1016=)
c.2989C= (p.Arg997=)
c.2923C= (p.Arg975=)
c.1489C= (p.Arg497=)
c.841C= (p.Arg281=)
c.628C= (p.Arg210=)
c.2902C= (p.Arg968=)
c.3037C= (p.Arg1013=)
c.3043C= (p.Arg1015=)
c.2959C= (p.Arg987=)
c.2944C= (p.Arg982=)
c.2887C= (p.Arg963=)
c.2821C= (p.Arg941=)
c.2182C= (p.Arg728=)
c.2800C= (p.Arg934=)
9g.137813408C>GCA375793893EHMT1c.3058C>G (p.Arg1020Gly)
c.2944C>G
c.2965C>G (p.Arg989Gly)
c.3098C>G (n.3098C>G)
c.952C>G (p.Arg318Gly)
c.1915C>G (p.Arg639Gly)
c.745C>G
n.584C>G
c.3049C>G (p.Arg1017Gly)
c.3040C>G (p.Arg1014Gly)
c.3067C>G (p.Arg1023Gly)
c.3064C>G (p.Arg1022Gly)
c.3046C>G (p.Arg1016Gly)
c.2989C>G (p.Arg997Gly)
c.2923C>G (p.Arg975Gly)
c.1489C>G (p.Arg497Gly)
c.841C>G (p.Arg281Gly)
c.628C>G (p.Arg210Gly)
c.2902C>G (p.Arg968Gly)
c.3037C>G (p.Arg1013Gly)
c.3043C>G (p.Arg1015Gly)
c.2959C>G (p.Arg987Gly)
c.2944C>G (p.Arg982Gly)
c.2887C>G (p.Arg963Gly)
c.2821C>G (p.Arg941Gly)
c.2182C>G (p.Arg728Gly)
c.2800C>G (p.Arg934Gly)
9g.137813408C>TCA5375153EHMT1c.3058C>T (p.Arg1020Cys)
c.2944C>T
c.2965C>T (p.Arg989Cys)
c.3098C>T (n.3098C>T)
c.952C>T (p.Arg318Cys)
c.1915C>T (p.Arg639Cys)
c.745C>T
n.584C>T
c.3049C>T (p.Arg1017Cys)
c.3040C>T (p.Arg1014Cys)
c.3067C>T (p.Arg1023Cys)
c.3064C>T (p.Arg1022Cys)
c.3046C>T (p.Arg1016Cys)
c.2989C>T (p.Arg997Cys)
c.2923C>T (p.Arg975Cys)
c.1489C>T (p.Arg497Cys)
c.841C>T (p.Arg281Cys)
c.628C>T (p.Arg210Cys)
c.2902C>T (p.Arg968Cys)
c.3037C>T (p.Arg1013Cys)
c.3043C>T (p.Arg1015Cys)
c.2959C>T (p.Arg987Cys)
c.2944C>T (p.Arg982Cys)
c.2887C>T (p.Arg963Cys)
c.2821C>T (p.Arg941Cys)
c.2182C>T (p.Arg728Cys)
c.2800C>T (p.Arg934Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813409G>ACA5375154EHMT1c.3059G>A (p.Arg1020His)
c.2945G>A
c.2966G>A (p.Arg989His)
c.3099G>A (n.3099G>A)
c.953G>A (p.Arg318His)
c.1916G>A (p.Arg639His)
c.746G>A
n.585G>A
c.3050G>A (p.Arg1017His)
c.3041G>A (p.Arg1014His)
c.3068G>A (p.Arg1023His)
c.3065G>A (p.Arg1022His)
c.3047G>A (p.Arg1016His)
c.2990G>A (p.Arg997His)
c.2924G>A (p.Arg975His)
c.1490G>A (p.Arg497His)
c.842G>A (p.Arg281His)
c.629G>A (p.Arg210His)
c.2903G>A (p.Arg968His)
c.3038G>A (p.Arg1013His)
c.3044G>A (p.Arg1015His)
c.2960G>A (p.Arg987His)
c.2945G>A (p.Arg982His)
c.2888G>A (p.Arg963His)
c.2822G>A (p.Arg941His)
c.2183G>A (p.Arg728His)
c.2801G>A (p.Arg934His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813409G>CCA375793897EHMT1c.3059G>C (p.Arg1020Pro)
c.2945G>C
c.2966G>C (p.Arg989Pro)
c.3099G>C (n.3099G>C)
c.953G>C (p.Arg318Pro)
c.1916G>C (p.Arg639Pro)
c.746G>C
n.585G>C
c.3050G>C (p.Arg1017Pro)
c.3041G>C (p.Arg1014Pro)
c.3068G>C (p.Arg1023Pro)
c.3065G>C (p.Arg1022Pro)
c.3047G>C (p.Arg1016Pro)
c.2990G>C (p.Arg997Pro)
c.2924G>C (p.Arg975Pro)
c.1490G>C (p.Arg497Pro)
c.842G>C (p.Arg281Pro)
c.629G>C (p.Arg210Pro)
c.2903G>C (p.Arg968Pro)
c.3038G>C (p.Arg1013Pro)
c.3044G>C (p.Arg1015Pro)
c.2960G>C (p.Arg987Pro)
c.2945G>C (p.Arg982Pro)
c.2888G>C (p.Arg963Pro)
c.2822G>C (p.Arg941Pro)
c.2183G>C (p.Arg728Pro)
c.2801G>C (p.Arg934Pro)
9g.137813409G=CA1884685872EHMT1c.3059G= (p.Arg1020=)
c.2945G=
c.2966G= (p.Arg989=)
c.3099G= (n.3099G=)
c.953G= (p.Arg318=)
c.1916G= (p.Arg639=)
c.746G=
n.585G=
c.3050G= (p.Arg1017=)
c.3041G= (p.Arg1014=)
c.3068G= (p.Arg1023=)
c.3065G= (p.Arg1022=)
c.3047G= (p.Arg1016=)
c.2990G= (p.Arg997=)
c.2924G= (p.Arg975=)
c.1490G= (p.Arg497=)
c.842G= (p.Arg281=)
c.629G= (p.Arg210=)
c.2903G= (p.Arg968=)
c.3038G= (p.Arg1013=)
c.3044G= (p.Arg1015=)
c.2960G= (p.Arg987=)
c.2945G= (p.Arg982=)
c.2888G= (p.Arg963=)
c.2822G= (p.Arg941=)
c.2183G= (p.Arg728=)
c.2801G= (p.Arg934=)
9g.137813409G>TCA375793899EHMT1c.3059G>T (p.Arg1020Leu)
c.2945G>T
c.2966G>T (p.Arg989Leu)
c.3099G>T (n.3099G>T)
c.953G>T (p.Arg318Leu)
c.1916G>T (p.Arg639Leu)
c.746G>T
n.585G>T
c.3050G>T (p.Arg1017Leu)
c.3041G>T (p.Arg1014Leu)
c.3068G>T (p.Arg1023Leu)
c.3065G>T (p.Arg1022Leu)
c.3047G>T (p.Arg1016Leu)
c.2990G>T (p.Arg997Leu)
c.2924G>T (p.Arg975Leu)
c.1490G>T (p.Arg497Leu)
c.842G>T (p.Arg281Leu)
c.629G>T (p.Arg210Leu)
c.2903G>T (p.Arg968Leu)
c.3038G>T (p.Arg1013Leu)
c.3044G>T (p.Arg1015Leu)
c.2960G>T (p.Arg987Leu)
c.2945G>T (p.Arg982Leu)
c.2888G>T (p.Arg963Leu)
c.2822G>T (p.Arg941Leu)
c.2183G>T (p.Arg728Leu)
c.2801G>T (p.Arg934Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.137813410C>ACA468161410EHMT1c.3060C>A (p.Arg1020=)
c.2967C>A (p.Arg989=)
c.3100C>A (n.3100C>A)
c.954C>A (p.Arg318=)
c.1917C>A (p.Arg639=)
c.747C>A
n.586C>A
c.3051C>A (p.Arg1017=)
c.3042C>A (p.Arg1014=)
c.3069C>A (p.Arg1023=)
c.3066C>A (p.Arg1022=)
c.3048C>A (p.Arg1016=)
c.2991C>A (p.Arg997=)
c.2925C>A (p.Arg975=)
c.1491C>A (p.Arg497=)
c.843C>A (p.Arg281=)
c.630C>A (p.Arg210=)
c.2904C>A (p.Arg968=)
c.3039C>A (p.Arg1013=)
c.3045C>A (p.Arg1015=)
c.2961C>A (p.Arg987=)
c.2946C>A (p.Arg982=)
c.2889C>A (p.Arg963=)
c.2823C>A (p.Arg941=)
c.2184C>A (p.Arg728=)
c.2802C>A (p.Arg934=)
9g.137813410C=CA1884685873EHMT1c.3060C= (p.Arg1020=)
c.2967C= (p.Arg989=)
c.3100C= (n.3100C=)
c.954C= (p.Arg318=)
c.1917C= (p.Arg639=)
c.747C=
n.586C=
c.3051C= (p.Arg1017=)
c.3042C= (p.Arg1014=)
c.3069C= (p.Arg1023=)
c.3066C= (p.Arg1022=)
c.3048C= (p.Arg1016=)
c.2991C= (p.Arg997=)
c.2925C= (p.Arg975=)
c.1491C= (p.Arg497=)
c.843C= (p.Arg281=)
c.630C= (p.Arg210=)
c.2904C= (p.Arg968=)
c.3039C= (p.Arg1013=)
c.3045C= (p.Arg1015=)
c.2961C= (p.Arg987=)
c.2946C= (p.Arg982=)
c.2889C= (p.Arg963=)
c.2823C= (p.Arg941=)
c.2184C= (p.Arg728=)
c.2802C= (p.Arg934=)
9g.137813410C>GCA468161409EHMT1c.3060C>G (p.Arg1020=)
c.2967C>G (p.Arg989=)
c.3100C>G (n.3100C>G)
c.954C>G (p.Arg318=)
c.1917C>G (p.Arg639=)
c.747C>G
n.586C>G
c.3051C>G (p.Arg1017=)
c.3042C>G (p.Arg1014=)
c.3069C>G (p.Arg1023=)
c.3066C>G (p.Arg1022=)
c.3048C>G (p.Arg1016=)
c.2991C>G (p.Arg997=)
c.2925C>G (p.Arg975=)
c.1491C>G (p.Arg497=)
c.843C>G (p.Arg281=)
c.630C>G (p.Arg210=)
c.2904C>G (p.Arg968=)
c.3039C>G (p.Arg1013=)
c.3045C>G (p.Arg1015=)
c.2961C>G (p.Arg987=)
c.2946C>G (p.Arg982=)
c.2889C>G (p.Arg963=)
c.2823C>G (p.Arg941=)
c.2184C>G (p.Arg728=)
c.2802C>G (p.Arg934=)
9g.137813410C>TCA5375155EHMT1c.3060C>T (p.Arg1020=)
c.2967C>T (p.Arg989=)
c.3100C>T (n.3100C>T)
c.954C>T (p.Arg318=)
c.1917C>T (p.Arg639=)
c.747C>T
n.586C>T
c.3051C>T (p.Arg1017=)
c.3042C>T (p.Arg1014=)
c.3069C>T (p.Arg1023=)
c.3066C>T (p.Arg1022=)
c.3048C>T (p.Arg1016=)
c.2991C>T (p.Arg997=)
c.2925C>T (p.Arg975=)
c.1491C>T (p.Arg497=)
c.843C>T (p.Arg281=)
c.630C>T (p.Arg210=)
c.2904C>T (p.Arg968=)
c.3039C>T (p.Arg1013=)
c.3045C>T (p.Arg1015=)
c.2961C>T (p.Arg987=)
c.2946C>T (p.Arg982=)
c.2889C>T (p.Arg963=)
c.2823C>T (p.Arg941=)
c.2184C>T (p.Arg728=)
c.2802C>T (p.Arg934=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813411A>CCA375793909EHMT1c.3061A>C (p.Ile1021Leu)
c.2968A>C (p.Ile990Leu)
c.3101A>C (n.3101A>C)
c.955A>C (p.Ile319Leu)
c.1918A>C (p.Ile640Leu)
c.748A>C
n.587A>C
c.3052A>C (p.Ile1018Leu)
c.3043A>C (p.Ile1015Leu)
c.3070A>C (p.Ile1024Leu)
c.3067A>C (p.Ile1023Leu)
c.3049A>C (p.Ile1017Leu)
c.2992A>C (p.Ile998Leu)
c.2926A>C (p.Ile976Leu)
c.1492A>C (p.Ile498Leu)
c.844A>C (p.Ile282Leu)
c.631A>C (p.Ile211Leu)
c.2905A>C (p.Ile969Leu)
c.3040A>C (p.Ile1014Leu)
c.3046A>C (p.Ile1016Leu)
c.2962A>C (p.Ile988Leu)
c.2947A>C (p.Ile983Leu)
c.2890A>C (p.Ile964Leu)
c.2824A>C (p.Ile942Leu)
c.2185A>C (p.Ile729Leu)
c.2803A>C (p.Ile935Leu)
 gnomAD v4
9g.137813411A>GCA375793904EHMT1c.3061A>G (p.Ile1021Val)
c.2968A>G (p.Ile990Val)
c.3101A>G (n.3101A>G)
c.955A>G (p.Ile319Val)
c.1918A>G (p.Ile640Val)
c.748A>G
n.587A>G
c.3052A>G (p.Ile1018Val)
c.3043A>G (p.Ile1015Val)
c.3070A>G (p.Ile1024Val)
c.3067A>G (p.Ile1023Val)
c.3049A>G (p.Ile1017Val)
c.2992A>G (p.Ile998Val)
c.2926A>G (p.Ile976Val)
c.1492A>G (p.Ile498Val)
c.844A>G (p.Ile282Val)
c.631A>G (p.Ile211Val)
c.2905A>G (p.Ile969Val)
c.3040A>G (p.Ile1014Val)
c.3046A>G (p.Ile1016Val)
c.2962A>G (p.Ile988Val)
c.2947A>G (p.Ile983Val)
c.2890A>G (p.Ile964Val)
c.2824A>G (p.Ile942Val)
c.2185A>G (p.Ile729Val)
c.2803A>G (p.Ile935Val)
9g.137813411A>TCA375793905EHMT1c.3061A>T (p.Ile1021Phe)
c.2968A>T (p.Ile990Phe)
c.3101A>T (n.3101A>T)
c.955A>T (p.Ile319Phe)
c.1918A>T (p.Ile640Phe)
c.748A>T
n.587A>T
c.3052A>T (p.Ile1018Phe)
c.3043A>T (p.Ile1015Phe)
c.3070A>T (p.Ile1024Phe)
c.3067A>T (p.Ile1023Phe)
c.3049A>T (p.Ile1017Phe)
c.2992A>T (p.Ile998Phe)
c.2926A>T (p.Ile976Phe)
c.1492A>T (p.Ile498Phe)
c.844A>T (p.Ile282Phe)
c.631A>T (p.Ile211Phe)
c.2905A>T (p.Ile969Phe)
c.3040A>T (p.Ile1014Phe)
c.3046A>T (p.Ile1016Phe)
c.2962A>T (p.Ile988Phe)
c.2947A>T (p.Ile983Phe)
c.2890A>T (p.Ile964Phe)
c.2824A>T (p.Ile942Phe)
c.2185A>T (p.Ile729Phe)
c.2803A>T (p.Ile935Phe)
9g.137813412T>ACA5375156EHMT1c.3062T>A (p.Ile1021Asn)
c.2969T>A (p.Ile990Asn)
c.3102T>A (n.3102T>A)
c.956T>A (p.Ile319Asn)
c.1919T>A (p.Ile640Asn)
c.749T>A
n.588T>A
c.3053T>A (p.Ile1018Asn)
c.3044T>A (p.Ile1015Asn)
c.3071T>A (p.Ile1024Asn)
c.3068T>A (p.Ile1023Asn)
c.3050T>A (p.Ile1017Asn)
c.2993T>A (p.Ile998Asn)
c.2927T>A (p.Ile976Asn)
c.1493T>A (p.Ile498Asn)
c.845T>A (p.Ile282Asn)
c.632T>A (p.Ile211Asn)
c.2906T>A (p.Ile969Asn)
c.3041T>A (p.Ile1014Asn)
c.3047T>A (p.Ile1016Asn)
c.2963T>A (p.Ile988Asn)
c.2948T>A (p.Ile983Asn)
c.2891T>A (p.Ile964Asn)
c.2825T>A (p.Ile942Asn)
c.2186T>A (p.Ile729Asn)
c.2804T>A (p.Ile935Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813412T>CCA375793914EHMT1c.3062T>C (p.Ile1021Thr)
c.2969T>C (p.Ile990Thr)
c.3102T>C (n.3102T>C)
c.956T>C (p.Ile319Thr)
c.1919T>C (p.Ile640Thr)
c.749T>C
n.588T>C
c.3053T>C (p.Ile1018Thr)
c.3044T>C (p.Ile1015Thr)
c.3071T>C (p.Ile1024Thr)
c.3068T>C (p.Ile1023Thr)
c.3050T>C (p.Ile1017Thr)
c.2993T>C (p.Ile998Thr)
c.2927T>C (p.Ile976Thr)
c.1493T>C (p.Ile498Thr)
c.845T>C (p.Ile282Thr)
c.632T>C (p.Ile211Thr)
c.2906T>C (p.Ile969Thr)
c.3041T>C (p.Ile1014Thr)
c.3047T>C (p.Ile1016Thr)
c.2963T>C (p.Ile988Thr)
c.2948T>C (p.Ile983Thr)
c.2891T>C (p.Ile964Thr)
c.2825T>C (p.Ile942Thr)
c.2186T>C (p.Ile729Thr)
c.2804T>C (p.Ile935Thr)
 dbSNP
9g.137813412T>GCA375793916EHMT1c.3062T>G (p.Ile1021Ser)
c.2969T>G (p.Ile990Ser)
c.3102T>G (n.3102T>G)
c.956T>G (p.Ile319Ser)
c.1919T>G (p.Ile640Ser)
c.749T>G
n.588T>G
c.3053T>G (p.Ile1018Ser)
c.3044T>G (p.Ile1015Ser)
c.3071T>G (p.Ile1024Ser)
c.3068T>G (p.Ile1023Ser)
c.3050T>G (p.Ile1017Ser)
c.2993T>G (p.Ile998Ser)
c.2927T>G (p.Ile976Ser)
c.1493T>G (p.Ile498Ser)
c.845T>G (p.Ile282Ser)
c.632T>G (p.Ile211Ser)
c.2906T>G (p.Ile969Ser)
c.3041T>G (p.Ile1014Ser)
c.3047T>G (p.Ile1016Ser)
c.2963T>G (p.Ile988Ser)
c.2948T>G (p.Ile983Ser)
c.2891T>G (p.Ile964Ser)
c.2825T>G (p.Ile942Ser)
c.2186T>G (p.Ile729Ser)
c.2804T>G (p.Ile935Ser)
9g.137813412T=CA1884685874EHMT1c.3062T= (p.Ile1021=)
c.2969T= (p.Ile990=)
c.3102T= (n.3102T=)
c.956T= (p.Ile319=)
c.1919T= (p.Ile640=)
c.749T=
n.588T=
c.3053T= (p.Ile1018=)
c.3044T= (p.Ile1015=)
c.3071T= (p.Ile1024=)
c.3068T= (p.Ile1023=)
c.3050T= (p.Ile1017=)
c.2993T= (p.Ile998=)
c.2927T= (p.Ile976=)
c.1493T= (p.Ile498=)
c.845T= (p.Ile282=)
c.632T= (p.Ile211=)
c.2906T= (p.Ile969=)
c.3041T= (p.Ile1014=)
c.3047T= (p.Ile1016=)
c.2963T= (p.Ile988=)
c.2948T= (p.Ile983=)
c.2891T= (p.Ile964=)
c.2825T= (p.Ile942=)
c.2186T= (p.Ile729=)
c.2804T= (p.Ile935=)
9g.137813413C>ACA5375157EHMT1c.3063C>A (p.Ile1021=)
c.2970C>A (p.Ile990=)
c.3103C>A (n.3103C>A)
c.957C>A (p.Ile319=)
c.1920C>A (p.Ile640=)
c.750C>A
n.589C>A
c.3054C>A (p.Ile1018=)
c.3045C>A (p.Ile1015=)
c.3072C>A (p.Ile1024=)
c.3069C>A (p.Ile1023=)
c.3051C>A (p.Ile1017=)
c.2994C>A (p.Ile998=)
c.2928C>A (p.Ile976=)
c.1494C>A (p.Ile498=)
c.846C>A (p.Ile282=)
c.633C>A (p.Ile211=)
c.2907C>A (p.Ile969=)
c.3042C>A (p.Ile1014=)
c.3048C>A (p.Ile1016=)
c.2964C>A (p.Ile988=)
c.2949C>A (p.Ile983=)
c.2892C>A (p.Ile964=)
c.2826C>A (p.Ile942=)
c.2187C>A (p.Ile729=)
c.2805C>A (p.Ile935=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813413C=CA1884685875EHMT1c.3063C= (p.Ile1021=)
c.2970C= (p.Ile990=)
c.3103C= (n.3103C=)
c.957C= (p.Ile319=)
c.1920C= (p.Ile640=)
c.750C=
n.589C=
c.3054C= (p.Ile1018=)
c.3045C= (p.Ile1015=)
c.3072C= (p.Ile1024=)
c.3069C= (p.Ile1023=)
c.3051C= (p.Ile1017=)
c.2994C= (p.Ile998=)
c.2928C= (p.Ile976=)
c.1494C= (p.Ile498=)
c.846C= (p.Ile282=)
c.633C= (p.Ile211=)
c.2907C= (p.Ile969=)
c.3042C= (p.Ile1014=)
c.3048C= (p.Ile1016=)
c.2964C= (p.Ile988=)
c.2949C= (p.Ile983=)
c.2892C= (p.Ile964=)
c.2826C= (p.Ile942=)
c.2187C= (p.Ile729=)
c.2805C= (p.Ile935=)
9g.137813413C>GCA375793917EHMT1c.3063C>G (p.Ile1021Met)
c.2970C>G (p.Ile990Met)
c.3103C>G (n.3103C>G)
c.957C>G (p.Ile319Met)
c.1920C>G (p.Ile640Met)
c.750C>G
n.589C>G
c.3054C>G (p.Ile1018Met)
c.3045C>G (p.Ile1015Met)
c.3072C>G (p.Ile1024Met)
c.3069C>G (p.Ile1023Met)
c.3051C>G (p.Ile1017Met)
c.2994C>G (p.Ile998Met)
c.2928C>G (p.Ile976Met)
c.1494C>G (p.Ile498Met)
c.846C>G (p.Ile282Met)
c.633C>G (p.Ile211Met)
c.2907C>G (p.Ile969Met)
c.3042C>G (p.Ile1014Met)
c.3048C>G (p.Ile1016Met)
c.2964C>G (p.Ile988Met)
c.2949C>G (p.Ile983Met)
c.2892C>G (p.Ile964Met)
c.2826C>G (p.Ile942Met)
c.2187C>G (p.Ile729Met)
c.2805C>G (p.Ile935Met)
 gnomAD v4
9g.137813413C>TCA468161411EHMT1c.3063C>T (p.Ile1021=)
c.2970C>T (p.Ile990=)
c.3103C>T (n.3103C>T)
c.957C>T (p.Ile319=)
c.1920C>T (p.Ile640=)
c.750C>T
n.589C>T
c.3054C>T (p.Ile1018=)
c.3045C>T (p.Ile1015=)
c.3072C>T (p.Ile1024=)
c.3069C>T (p.Ile1023=)
c.3051C>T (p.Ile1017=)
c.2994C>T (p.Ile998=)
c.2928C>T (p.Ile976=)
c.1494C>T (p.Ile498=)
c.846C>T (p.Ile282=)
c.633C>T (p.Ile211=)
c.2907C>T (p.Ile969=)
c.3042C>T (p.Ile1014=)
c.3048C>T (p.Ile1016=)
c.2964C>T (p.Ile988=)
c.2949C>T (p.Ile983=)
c.2892C>T (p.Ile964=)
c.2826C>T (p.Ile942=)
c.2187C>T (p.Ile729=)
c.2805C>T (p.Ile935=)
9g.137813414C>ACA375793919EHMT1c.3064C>A (p.Pro1022Thr)
c.2971C>A (p.Pro991Thr)
c.3104C>A (n.3104C>A)
c.958C>A (p.Pro320Thr)
c.1921C>A (p.Pro641Thr)
c.751C>A
n.590C>A
c.3055C>A (p.Pro1019Thr)
c.3046C>A (p.Pro1016Thr)
c.3073C>A (p.Pro1025Thr)
c.3070C>A (p.Pro1024Thr)
c.3052C>A (p.Pro1018Thr)
c.2995C>A (p.Pro999Thr)
c.2929C>A (p.Pro977Thr)
c.1495C>A (p.Pro499Thr)
c.847C>A (p.Pro283Thr)
c.634C>A (p.Pro212Thr)
c.2908C>A (p.Pro970Thr)
c.3043C>A (p.Pro1015Thr)
c.3049C>A (p.Pro1017Thr)
c.2965C>A (p.Pro989Thr)
c.2950C>A (p.Pro984Thr)
c.2893C>A (p.Pro965Thr)
c.2827C>A (p.Pro943Thr)
c.2188C>A (p.Pro730Thr)
c.2806C>A (p.Pro936Thr)
9g.137813414C=CA1884685876EHMT1c.3064C= (p.Pro1022=)
c.2971C= (p.Pro991=)
c.3104C= (n.3104C=)
c.958C= (p.Pro320=)
c.1921C= (p.Pro641=)
c.751C=
n.590C=
c.3055C= (p.Pro1019=)
c.3046C= (p.Pro1016=)
c.3073C= (p.Pro1025=)
c.3070C= (p.Pro1024=)
c.3052C= (p.Pro1018=)
c.2995C= (p.Pro999=)
c.2929C= (p.Pro977=)
c.1495C= (p.Pro499=)
c.847C= (p.Pro283=)
c.634C= (p.Pro212=)
c.2908C= (p.Pro970=)
c.3043C= (p.Pro1015=)
c.3049C= (p.Pro1017=)
c.2965C= (p.Pro989=)
c.2950C= (p.Pro984=)
c.2893C= (p.Pro965=)
c.2827C= (p.Pro943=)
c.2188C= (p.Pro730=)
c.2806C= (p.Pro936=)
9g.137813414C>GCA375793918EHMT1c.3064C>G (p.Pro1022Ala)
c.2971C>G (p.Pro991Ala)
c.3104C>G (n.3104C>G)
c.958C>G (p.Pro320Ala)
c.1921C>G (p.Pro641Ala)
c.751C>G
n.590C>G
c.3055C>G (p.Pro1019Ala)
c.3046C>G (p.Pro1016Ala)
c.3073C>G (p.Pro1025Ala)
c.3070C>G (p.Pro1024Ala)
c.3052C>G (p.Pro1018Ala)
c.2995C>G (p.Pro999Ala)
c.2929C>G (p.Pro977Ala)
c.1495C>G (p.Pro499Ala)
c.847C>G (p.Pro283Ala)
c.634C>G (p.Pro212Ala)
c.2908C>G (p.Pro970Ala)
c.3043C>G (p.Pro1015Ala)
c.3049C>G (p.Pro1017Ala)
c.2965C>G (p.Pro989Ala)
c.2950C>G (p.Pro984Ala)
c.2893C>G (p.Pro965Ala)
c.2827C>G (p.Pro943Ala)
c.2188C>G (p.Pro730Ala)
c.2806C>G (p.Pro936Ala)
9g.137813414C>TCA5375158EHMT1c.3064C>T (p.Pro1022Ser)
c.2971C>T (p.Pro991Ser)
c.3104C>T (n.3104C>T)
c.958C>T (p.Pro320Ser)
c.1921C>T (p.Pro641Ser)
c.751C>T
n.590C>T
c.3055C>T (p.Pro1019Ser)
c.3046C>T (p.Pro1016Ser)
c.3073C>T (p.Pro1025Ser)
c.3070C>T (p.Pro1024Ser)
c.3052C>T (p.Pro1018Ser)
c.2995C>T (p.Pro999Ser)
c.2929C>T (p.Pro977Ser)
c.1495C>T (p.Pro499Ser)
c.847C>T (p.Pro283Ser)
c.634C>T (p.Pro212Ser)
c.2908C>T (p.Pro970Ser)
c.3043C>T (p.Pro1015Ser)
c.3049C>T (p.Pro1017Ser)
c.2965C>T (p.Pro989Ser)
c.2950C>T (p.Pro984Ser)
c.2893C>T (p.Pro965Ser)
c.2827C>T (p.Pro943Ser)
c.2188C>T (p.Pro730Ser)
c.2806C>T (p.Pro936Ser)
 ClinVar dbSNP ExAC gnomAD v2
9g.137813415C>ACA375793920EHMT1c.3065C>A (p.Pro1022His)
c.2972C>A (p.Pro991His)
c.3105C>A (n.3105C>A)
c.959C>A (p.Pro320His)
c.1922C>A (p.Pro641His)
c.752C>A
n.591C>A
c.3056C>A (p.Pro1019His)
c.3047C>A (p.Pro1016His)
c.3074C>A (p.Pro1025His)
c.3071C>A (p.Pro1024His)
c.3053C>A (p.Pro1018His)
c.2996C>A (p.Pro999His)
c.2930C>A (p.Pro977His)
c.1496C>A (p.Pro499His)
c.848C>A (p.Pro283His)
c.635C>A (p.Pro212His)
c.2909C>A (p.Pro970His)
c.3044C>A (p.Pro1015His)
c.3050C>A (p.Pro1017His)
c.2966C>A (p.Pro989His)
c.2951C>A (p.Pro984His)
c.2894C>A (p.Pro965His)
c.2828C>A (p.Pro943His)
c.2189C>A (p.Pro730His)
c.2807C>A (p.Pro936His)
 gnomAD v4
9g.137813415C=CA1884685877EHMT1c.3065C= (p.Pro1022=)
c.2972C= (p.Pro991=)
c.3105C= (n.3105C=)
c.959C= (p.Pro320=)
c.1922C= (p.Pro641=)
c.752C=
n.591C=
c.3056C= (p.Pro1019=)
c.3047C= (p.Pro1016=)
c.3074C= (p.Pro1025=)
c.3071C= (p.Pro1024=)
c.3053C= (p.Pro1018=)
c.2996C= (p.Pro999=)
c.2930C= (p.Pro977=)
c.1496C= (p.Pro499=)
c.848C= (p.Pro283=)
c.635C= (p.Pro212=)
c.2909C= (p.Pro970=)
c.3044C= (p.Pro1015=)
c.3050C= (p.Pro1017=)
c.2966C= (p.Pro989=)
c.2951C= (p.Pro984=)
c.2894C= (p.Pro965=)
c.2828C= (p.Pro943=)
c.2189C= (p.Pro730=)
c.2807C= (p.Pro936=)
9g.137813415C>GCA375793921EHMT1c.3065C>G (p.Pro1022Arg)
c.2972C>G (p.Pro991Arg)
c.3105C>G (n.3105C>G)
c.959C>G (p.Pro320Arg)
c.1922C>G (p.Pro641Arg)
c.752C>G
n.591C>G
c.3056C>G (p.Pro1019Arg)
c.3047C>G (p.Pro1016Arg)
c.3074C>G (p.Pro1025Arg)
c.3071C>G (p.Pro1024Arg)
c.3053C>G (p.Pro1018Arg)
c.2996C>G (p.Pro999Arg)
c.2930C>G (p.Pro977Arg)
c.1496C>G (p.Pro499Arg)
c.848C>G (p.Pro283Arg)
c.635C>G (p.Pro212Arg)
c.2909C>G (p.Pro970Arg)
c.3044C>G (p.Pro1015Arg)
c.3050C>G (p.Pro1017Arg)
c.2966C>G (p.Pro989Arg)
c.2951C>G (p.Pro984Arg)
c.2894C>G (p.Pro965Arg)
c.2828C>G (p.Pro943Arg)
c.2189C>G (p.Pro730Arg)
c.2807C>G (p.Pro936Arg)
 dbSNP gnomAD v2 gnomAD v4
9g.137813415C>TCA375793923EHMT1c.3065C>T (p.Pro1022Leu)
c.2972C>T (p.Pro991Leu)
c.3105C>T (n.3105C>T)
c.959C>T (p.Pro320Leu)
c.1922C>T (p.Pro641Leu)
c.752C>T
n.591C>T
c.3056C>T (p.Pro1019Leu)
c.3047C>T (p.Pro1016Leu)
c.3074C>T (p.Pro1025Leu)
c.3071C>T (p.Pro1024Leu)
c.3053C>T (p.Pro1018Leu)
c.2996C>T (p.Pro999Leu)
c.2930C>T (p.Pro977Leu)
c.1496C>T (p.Pro499Leu)
c.848C>T (p.Pro283Leu)
c.635C>T (p.Pro212Leu)
c.2909C>T (p.Pro970Leu)
c.3044C>T (p.Pro1015Leu)
c.3050C>T (p.Pro1017Leu)
c.2966C>T (p.Pro989Leu)
c.2951C>T (p.Pro984Leu)
c.2894C>T (p.Pro965Leu)
c.2828C>T (p.Pro943Leu)
c.2189C>T (p.Pro730Leu)
c.2807C>T (p.Pro936Leu)
 dbSNP gnomAD v3 gnomAD v4
9g.137813416C>ACA468161412EHMT1c.3066C>A (p.Pro1022=)
c.2973C>A (p.Pro991=)
c.3106C>A (n.3106C>A)
c.960C>A (p.Pro320=)
c.1923C>A (p.Pro641=)
c.753C>A
n.592C>A
c.3057C>A (p.Pro1019=)
c.3048C>A (p.Pro1016=)
c.3075C>A (p.Pro1025=)
c.3072C>A (p.Pro1024=)
c.3054C>A (p.Pro1018=)
c.2997C>A (p.Pro999=)
c.2931C>A (p.Pro977=)
c.1497C>A (p.Pro499=)
c.849C>A (p.Pro283=)
c.636C>A (p.Pro212=)
c.2910C>A (p.Pro970=)
c.3045C>A (p.Pro1015=)
c.3051C>A (p.Pro1017=)
c.2967C>A (p.Pro989=)
c.2952C>A (p.Pro984=)
c.2895C>A (p.Pro965=)
c.2829C>A (p.Pro943=)
c.2190C>A (p.Pro730=)
c.2808C>A (p.Pro936=)
9g.137813416C>GCA468161414EHMT1c.3066C>G (p.Pro1022=)
c.2973C>G (p.Pro991=)
c.3106C>G (n.3106C>G)
c.960C>G (p.Pro320=)
c.1923C>G (p.Pro641=)
c.753C>G
n.592C>G
c.3057C>G (p.Pro1019=)
c.3048C>G (p.Pro1016=)
c.3075C>G (p.Pro1025=)
c.3072C>G (p.Pro1024=)
c.3054C>G (p.Pro1018=)
c.2997C>G (p.Pro999=)
c.2931C>G (p.Pro977=)
c.1497C>G (p.Pro499=)
c.849C>G (p.Pro283=)
c.636C>G (p.Pro212=)
c.2910C>G (p.Pro970=)
c.3045C>G (p.Pro1015=)
c.3051C>G (p.Pro1017=)
c.2967C>G (p.Pro989=)
c.2952C>G (p.Pro984=)
c.2895C>G (p.Pro965=)
c.2829C>G (p.Pro943=)
c.2190C>G (p.Pro730=)
c.2808C>G (p.Pro936=)
9g.137813416C>TCA468161413EHMT1c.3066C>T (p.Pro1022=)
c.2973C>T (p.Pro991=)
c.3106C>T (n.3106C>T)
c.960C>T (p.Pro320=)
c.1923C>T (p.Pro641=)
c.753C>T
n.592C>T
c.3057C>T (p.Pro1019=)
c.3048C>T (p.Pro1016=)
c.3075C>T (p.Pro1025=)
c.3072C>T (p.Pro1024=)
c.3054C>T (p.Pro1018=)
c.2997C>T (p.Pro999=)
c.2931C>T (p.Pro977=)
c.1497C>T (p.Pro499=)
c.849C>T (p.Pro283=)
c.636C>T (p.Pro212=)
c.2910C>T (p.Pro970=)
c.3045C>T (p.Pro1015=)
c.3051C>T (p.Pro1017=)
c.2967C>T (p.Pro989=)
c.2952C>T (p.Pro984=)
c.2895C>T (p.Pro965=)
c.2829C>T (p.Pro943=)
c.2190C>T (p.Pro730=)
c.2808C>T (p.Pro936=)
9g.137813417A=CA1884685878EHMT1c.3067A= (p.Ile1023=)
c.2974A= (p.Ile992=)
c.3107A= (n.3107A=)
c.961A= (p.Ile321=)
c.1924A= (p.Ile642=)
c.754A=
n.593A=
c.3058A= (p.Ile1020=)
c.3049A= (p.Ile1017=)
c.3076A= (p.Ile1026=)
c.3073A= (p.Ile1025=)
c.3055A= (p.Ile1019=)
c.2998A= (p.Ile1000=)
c.2932A= (p.Ile978=)
c.1498A= (p.Ile500=)
c.850A= (p.Ile284=)
c.637A= (p.Ile213=)
c.2911A= (p.Ile971=)
c.3046A= (p.Ile1016=)
c.3052A= (p.Ile1018=)
c.2968A= (p.Ile990=)
c.2953A= (p.Ile985=)
c.2896A= (p.Ile966=)
c.2830A= (p.Ile944=)
c.2191A= (p.Ile731=)
c.2809A= (p.Ile937=)
9g.137813417A>CCA375793926EHMT1c.3067A>C (p.Ile1023Leu)
c.2974A>C (p.Ile992Leu)
c.3107A>C (n.3107A>C)
c.961A>C (p.Ile321Leu)
c.1924A>C (p.Ile642Leu)
c.754A>C
n.593A>C
c.3058A>C (p.Ile1020Leu)
c.3049A>C (p.Ile1017Leu)
c.3076A>C (p.Ile1026Leu)
c.3073A>C (p.Ile1025Leu)
c.3055A>C (p.Ile1019Leu)
c.2998A>C (p.Ile1000Leu)
c.2932A>C (p.Ile978Leu)
c.1498A>C (p.Ile500Leu)
c.850A>C (p.Ile284Leu)
c.637A>C (p.Ile213Leu)
c.2911A>C (p.Ile971Leu)
c.3046A>C (p.Ile1016Leu)
c.3052A>C (p.Ile1018Leu)
c.2968A>C (p.Ile990Leu)
c.2953A>C (p.Ile985Leu)
c.2896A>C (p.Ile966Leu)
c.2830A>C (p.Ile944Leu)
c.2191A>C (p.Ile731Leu)
c.2809A>C (p.Ile937Leu)
9g.137813417A>GCA5375159EHMT1c.3067A>G (p.Ile1023Val)
c.2974A>G (p.Ile992Val)
c.3107A>G (n.3107A>G)
c.961A>G (p.Ile321Val)
c.1924A>G (p.Ile642Val)
c.754A>G
n.593A>G
c.3058A>G (p.Ile1020Val)
c.3049A>G (p.Ile1017Val)
c.3076A>G (p.Ile1026Val)
c.3073A>G (p.Ile1025Val)
c.3055A>G (p.Ile1019Val)
c.2998A>G (p.Ile1000Val)
c.2932A>G (p.Ile978Val)
c.1498A>G (p.Ile500Val)
c.850A>G (p.Ile284Val)
c.637A>G (p.Ile213Val)
c.2911A>G (p.Ile971Val)
c.3046A>G (p.Ile1016Val)
c.3052A>G (p.Ile1018Val)
c.2968A>G (p.Ile990Val)
c.2953A>G (p.Ile985Val)
c.2896A>G (p.Ile966Val)
c.2830A>G (p.Ile944Val)
c.2191A>G (p.Ile731Val)
c.2809A>G (p.Ile937Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137813417A>TCA375793929EHMT1c.3067A>T (p.Ile1023Phe)
c.2974A>T (p.Ile992Phe)
c.3107A>T (n.3107A>T)
c.961A>T (p.Ile321Phe)
c.1924A>T (p.Ile642Phe)
c.754A>T
n.593A>T
c.3058A>T (p.Ile1020Phe)
c.3049A>T (p.Ile1017Phe)
c.3076A>T (p.Ile1026Phe)
c.3073A>T (p.Ile1025Phe)
c.3055A>T (p.Ile1019Phe)
c.2998A>T (p.Ile1000Phe)
c.2932A>T (p.Ile978Phe)
c.1498A>T (p.Ile500Phe)
c.850A>T (p.Ile284Phe)
c.637A>T (p.Ile213Phe)
c.2911A>T (p.Ile971Phe)
c.3046A>T (p.Ile1016Phe)
c.3052A>T (p.Ile1018Phe)
c.2968A>T (p.Ile990Phe)
c.2953A>T (p.Ile985Phe)
c.2896A>T (p.Ile966Phe)
c.2830A>T (p.Ile944Phe)
c.2191A>T (p.Ile731Phe)
c.2809A>T (p.Ile937Phe)
9g.137813418T>ACA375793930EHMT1c.3068T>A (p.Ile1023Asn)
c.2975T>A (p.Ile992Asn)
c.3108T>A (n.3108T>A)
c.962T>A (p.Ile321Asn)
c.1925T>A (p.Ile642Asn)
c.755T>A
n.594T>A
c.3059T>A (p.Ile1020Asn)
c.3050T>A (p.Ile1017Asn)
c.3077T>A (p.Ile1026Asn)
c.3074T>A (p.Ile1025Asn)
c.3056T>A (p.Ile1019Asn)
c.2999T>A (p.Ile1000Asn)
c.2933T>A (p.Ile978Asn)
c.1499T>A (p.Ile500Asn)
c.851T>A (p.Ile284Asn)
c.638T>A (p.Ile213Asn)
c.2912T>A (p.Ile971Asn)
c.3047T>A (p.Ile1016Asn)
c.3053T>A (p.Ile1018Asn)
c.2969T>A (p.Ile990Asn)
c.2954T>A (p.Ile985Asn)
c.2897T>A (p.Ile966Asn)
c.2831T>A (p.Ile944Asn)
c.2192T>A (p.Ile731Asn)
c.2810T>A (p.Ile937Asn)
9g.137813418T>CCA375793934EHMT1c.3068T>C (p.Ile1023Thr)
c.2975T>C (p.Ile992Thr)
c.3108T>C (n.3108T>C)
c.962T>C (p.Ile321Thr)
c.1925T>C (p.Ile642Thr)
c.755T>C
n.594T>C
c.3059T>C (p.Ile1020Thr)
c.3050T>C (p.Ile1017Thr)
c.3077T>C (p.Ile1026Thr)
c.3074T>C (p.Ile1025Thr)
c.3056T>C (p.Ile1019Thr)
c.2999T>C (p.Ile1000Thr)
c.2933T>C (p.Ile978Thr)
c.1499T>C (p.Ile500Thr)
c.851T>C (p.Ile284Thr)
c.638T>C (p.Ile213Thr)
c.2912T>C (p.Ile971Thr)
c.3047T>C (p.Ile1016Thr)
c.3053T>C (p.Ile1018Thr)
c.2969T>C (p.Ile990Thr)
c.2954T>C (p.Ile985Thr)
c.2897T>C (p.Ile966Thr)
c.2831T>C (p.Ile944Thr)
c.2192T>C (p.Ile731Thr)
c.2810T>C (p.Ile937Thr)
9g.137813418T>GCA375793932EHMT1c.3068T>G (p.Ile1023Ser)
c.2975T>G (p.Ile992Ser)
c.3108T>G (n.3108T>G)
c.962T>G (p.Ile321Ser)
c.1925T>G (p.Ile642Ser)
c.755T>G
n.594T>G
c.3059T>G (p.Ile1020Ser)
c.3050T>G (p.Ile1017Ser)
c.3077T>G (p.Ile1026Ser)
c.3074T>G (p.Ile1025Ser)
c.3056T>G (p.Ile1019Ser)
c.2999T>G (p.Ile1000Ser)
c.2933T>G (p.Ile978Ser)
c.1499T>G (p.Ile500Ser)
c.851T>G (p.Ile284Ser)
c.638T>G (p.Ile213Ser)
c.2912T>G (p.Ile971Ser)
c.3047T>G (p.Ile1016Ser)
c.3053T>G (p.Ile1018Ser)
c.2969T>G (p.Ile990Ser)
c.2954T>G (p.Ile985Ser)
c.2897T>G (p.Ile966Ser)
c.2831T>G (p.Ile944Ser)
c.2192T>G (p.Ile731Ser)
c.2810T>G (p.Ile937Ser)
9g.137813419C>ACA468161415EHMT1c.3069C>A (p.Ile1023=)
c.2976C>A (p.Ile992=)
c.3109C>A (n.3109C>A)
c.963C>A (p.Ile321=)
c.1926C>A (p.Ile642=)
c.756C>A
n.595C>A
c.3060C>A (p.Ile1020=)
c.3051C>A (p.Ile1017=)
c.3078C>A (p.Ile1026=)
c.3075C>A (p.Ile1025=)
c.3057C>A (p.Ile1019=)
c.3000C>A (p.Ile1000=)
c.2934C>A (p.Ile978=)
c.1500C>A (p.Ile500=)
c.852C>A (p.Ile284=)
c.639C>A (p.Ile213=)
c.2913C>A (p.Ile971=)
c.3048C>A (p.Ile1016=)
c.3054C>A (p.Ile1018=)
c.2970C>A (p.Ile990=)
c.2955C>A (p.Ile985=)
c.2898C>A (p.Ile966=)
c.2832C>A (p.Ile944=)
c.2193C>A (p.Ile731=)
c.2811C>A (p.Ile937=)
9g.137813419C>GCA375793936EHMT1c.3069C>G (p.Ile1023Met)
c.2976C>G (p.Ile992Met)
c.3109C>G (n.3109C>G)
c.963C>G (p.Ile321Met)
c.1926C>G (p.Ile642Met)
c.756C>G
n.595C>G
c.3060C>G (p.Ile1020Met)
c.3051C>G (p.Ile1017Met)
c.3078C>G (p.Ile1026Met)
c.3075C>G (p.Ile1025Met)
c.3057C>G (p.Ile1019Met)
c.3000C>G (p.Ile1000Met)
c.2934C>G (p.Ile978Met)
c.1500C>G (p.Ile500Met)
c.852C>G (p.Ile284Met)
c.639C>G (p.Ile213Met)
c.2913C>G (p.Ile971Met)
c.3048C>G (p.Ile1016Met)
c.3054C>G (p.Ile1018Met)
c.2970C>G (p.Ile990Met)
c.2955C>G (p.Ile985Met)
c.2898C>G (p.Ile966Met)
c.2832C>G (p.Ile944Met)
c.2193C>G (p.Ile731Met)
c.2811C>G (p.Ile937Met)
9g.137813419C>TCA468161416EHMT1c.3069C>T (p.Ile1023=)
c.2976C>T (p.Ile992=)
c.3109C>T (n.3109C>T)
c.963C>T (p.Ile321=)
c.1926C>T (p.Ile642=)
c.756C>T
n.595C>T
c.3060C>T (p.Ile1020=)
c.3051C>T (p.Ile1017=)
c.3078C>T (p.Ile1026=)
c.3075C>T (p.Ile1025=)
c.3057C>T (p.Ile1019=)
c.3000C>T (p.Ile1000=)
c.2934C>T (p.Ile978=)
c.1500C>T (p.Ile500=)
c.852C>T (p.Ile284=)
c.639C>T (p.Ile213=)
c.2913C>T (p.Ile971=)
c.3048C>T (p.Ile1016=)
c.3054C>T (p.Ile1018=)
c.2970C>T (p.Ile990=)
c.2955C>T (p.Ile985=)
c.2898C>T (p.Ile966=)
c.2832C>T (p.Ile944=)
c.2193C>T (p.Ile731=)
c.2811C>T (p.Ile937=)
9g.137813420C>ACA375793940EHMT1c.3070C>A (p.Pro1024Thr)
c.2977C>A (p.Pro993Thr)
c.3110C>A (n.3110C>A)
c.964C>A (p.Pro322Thr)
c.1927C>A (p.Pro643Thr)
c.757C>A
n.596C>A
c.3061C>A (p.Pro1021Thr)
c.3052C>A (p.Pro1018Thr)
c.3079C>A (p.Pro1027Thr)
c.3076C>A (p.Pro1026Thr)
c.3058C>A (p.Pro1020Thr)
c.3001C>A (p.Pro1001Thr)
c.2935C>A (p.Pro979Thr)
c.1501C>A (p.Pro501Thr)
c.853C>A (p.Pro285Thr)
c.640C>A (p.Pro214Thr)
c.2914C>A (p.Pro972Thr)
c.3049C>A (p.Pro1017Thr)
c.3055C>A (p.Pro1019Thr)
c.2971C>A (p.Pro991Thr)
c.2956C>A (p.Pro986Thr)
c.2899C>A (p.Pro967Thr)
c.2833C>A (p.Pro945Thr)
c.2194C>A (p.Pro732Thr)
c.2812C>A (p.Pro938Thr)
9g.137813420C>GCA375793943EHMT1c.3070C>G (p.Pro1024Ala)
c.2977C>G (p.Pro993Ala)
c.3110C>G (n.3110C>G)
c.964C>G (p.Pro322Ala)
c.1927C>G (p.Pro643Ala)
c.757C>G
n.596C>G
c.3061C>G (p.Pro1021Ala)
c.3052C>G (p.Pro1018Ala)
c.3079C>G (p.Pro1027Ala)
c.3076C>G (p.Pro1026Ala)
c.3058C>G (p.Pro1020Ala)
c.3001C>G (p.Pro1001Ala)
c.2935C>G (p.Pro979Ala)
c.1501C>G (p.Pro501Ala)
c.853C>G (p.Pro285Ala)
c.640C>G (p.Pro214Ala)
c.2914C>G (p.Pro972Ala)
c.3049C>G (p.Pro1017Ala)
c.3055C>G (p.Pro1019Ala)
c.2971C>G (p.Pro991Ala)
c.2956C>G (p.Pro986Ala)
c.2899C>G (p.Pro967Ala)
c.2833C>G (p.Pro945Ala)
c.2194C>G (p.Pro732Ala)
c.2812C>G (p.Pro938Ala)
9g.137813420C>TCA375793945EHMT1c.3070C>T (p.Pro1024Ser)
c.2977C>T (p.Pro993Ser)
c.3110C>T (n.3110C>T)
c.964C>T (p.Pro322Ser)
c.1927C>T (p.Pro643Ser)
c.757C>T
n.596C>T
c.3061C>T (p.Pro1021Ser)
c.3052C>T (p.Pro1018Ser)
c.3079C>T (p.Pro1027Ser)
c.3076C>T (p.Pro1026Ser)
c.3058C>T (p.Pro1020Ser)
c.3001C>T (p.Pro1001Ser)
c.2935C>T (p.Pro979Ser)
c.1501C>T (p.Pro501Ser)
c.853C>T (p.Pro285Ser)
c.640C>T (p.Pro214Ser)
c.2914C>T (p.Pro972Ser)
c.3049C>T (p.Pro1017Ser)
c.3055C>T (p.Pro1019Ser)
c.2971C>T (p.Pro991Ser)
c.2956C>T (p.Pro986Ser)
c.2899C>T (p.Pro967Ser)
c.2833C>T (p.Pro945Ser)
c.2194C>T (p.Pro732Ser)
c.2812C>T (p.Pro938Ser)
9g.137813421C>ACA375793947EHMT1c.3071C>A (p.Pro1024His)
c.2978C>A (p.Pro993His)
c.3111C>A (n.3111C>A)
c.965C>A (p.Pro322His)
c.1928C>A (p.Pro643His)
c.758C>A
n.597C>A
c.3062C>A (p.Pro1021His)
c.3053C>A (p.Pro1018His)
c.3080C>A (p.Pro1027His)
c.3077C>A (p.Pro1026His)
c.3059C>A (p.Pro1020His)
c.3002C>A (p.Pro1001His)
c.2936C>A (p.Pro979His)
c.1502C>A (p.Pro501His)
c.854C>A (p.Pro285His)
c.641C>A (p.Pro214His)
c.2915C>A (p.Pro972His)
c.3050C>A (p.Pro1017His)
c.3056C>A (p.Pro1019His)
c.2972C>A (p.Pro991His)
c.2957C>A (p.Pro986His)
c.2900C>A (p.Pro967His)
c.2834C>A (p.Pro945His)
c.2195C>A (p.Pro732His)
c.2813C>A (p.Pro938His)
9g.137813421C>GCA375793950EHMT1c.3071C>G (p.Pro1024Arg)
c.2978C>G (p.Pro993Arg)
c.3111C>G (n.3111C>G)
c.965C>G (p.Pro322Arg)
c.1928C>G (p.Pro643Arg)
c.758C>G
n.597C>G
c.3062C>G (p.Pro1021Arg)
c.3053C>G (p.Pro1018Arg)
c.3080C>G (p.Pro1027Arg)
c.3077C>G (p.Pro1026Arg)
c.3059C>G (p.Pro1020Arg)
c.3002C>G (p.Pro1001Arg)
c.2936C>G (p.Pro979Arg)
c.1502C>G (p.Pro501Arg)
c.854C>G (p.Pro285Arg)
c.641C>G (p.Pro214Arg)
c.2915C>G (p.Pro972Arg)
c.3050C>G (p.Pro1017Arg)
c.3056C>G (p.Pro1019Arg)
c.2972C>G (p.Pro991Arg)
c.2957C>G (p.Pro986Arg)
c.2900C>G (p.Pro967Arg)
c.2834C>G (p.Pro945Arg)
c.2195C>G (p.Pro732Arg)
c.2813C>G (p.Pro938Arg)
9g.137813421C>TCA375793952EHMT1c.3071C>T (p.Pro1024Leu)
c.2978C>T (p.Pro993Leu)
c.3111C>T (n.3111C>T)
c.965C>T (p.Pro322Leu)
c.1928C>T (p.Pro643Leu)
c.758C>T
n.597C>T
c.3062C>T (p.Pro1021Leu)
c.3053C>T (p.Pro1018Leu)
c.3080C>T (p.Pro1027Leu)
c.3077C>T (p.Pro1026Leu)
c.3059C>T (p.Pro1020Leu)
c.3002C>T (p.Pro1001Leu)
c.2936C>T (p.Pro979Leu)
c.1502C>T (p.Pro501Leu)
c.854C>T (p.Pro285Leu)
c.641C>T (p.Pro214Leu)
c.2915C>T (p.Pro972Leu)
c.3050C>T (p.Pro1017Leu)
c.3056C>T (p.Pro1019Leu)
c.2972C>T (p.Pro991Leu)
c.2957C>T (p.Pro986Leu)
c.2900C>T (p.Pro967Leu)
c.2834C>T (p.Pro945Leu)
c.2195C>T (p.Pro732Leu)
c.2813C>T (p.Pro938Leu)
9g.137813421_137813423delinsCCTCA1884685879EHMT1c.3071_3073delinsCCT (p.Pro1024=)
c.2978_2980delinsCCT (p.Pro993=)
c.3111_3113delinsCCT (n.3111_3113delinsCCT)
c.965_967delinsCCT (p.Pro322=)
c.1928_1930delinsCCT (p.Pro643=)
c.758_760delinsCCT
n.597_599delinsCCT
c.3062_3064delinsCCT (p.Pro1021=)
c.3053_3055delinsCCT (p.Pro1018=)
c.3080_3082delinsCCT (p.Pro1027=)
c.3077_3079delinsCCT (p.Pro1026=)
c.3059_3061delinsCCT (p.Pro1020=)
c.3002_3004delinsCCT (p.Pro1001=)
c.2936_2938delinsCCT (p.Pro979=)
c.1502_1504delinsCCT (p.Pro501=)
c.854_856delinsCCT (p.Pro285=)
c.641_643delinsCCT (p.Pro214=)
c.2915_2917delinsCCT (p.Pro972=)
c.3050_3052delinsCCT (p.Pro1017=)
c.3056_3058delinsCCT (p.Pro1019=)
c.2972_2974delinsCCT (p.Pro991=)
c.2957_2959delinsCCT (p.Pro986=)
c.2900_2902delinsCCT (p.Pro967=)
c.2834_2836delinsCCT (p.Pro945=)
c.2195_2197delinsCCT (p.Pro732=)
c.2813_2815delinsCCT (p.Pro938=)
9g.137813422C>ACA468161417EHMT1c.3072C>A (p.Pro1024=)
c.2979C>A (p.Pro993=)
c.3112C>A (n.3112C>A)
c.966C>A (p.Pro322=)
c.1929C>A (p.Pro643=)
c.759C>A
n.598C>A
c.3063C>A (p.Pro1021=)
c.3054C>A (p.Pro1018=)
c.3081C>A (p.Pro1027=)
c.3078C>A (p.Pro1026=)
c.3060C>A (p.Pro1020=)
c.3003C>A (p.Pro1001=)
c.2937C>A (p.Pro979=)
c.1503C>A (p.Pro501=)
c.855C>A (p.Pro285=)
c.642C>A (p.Pro214=)
c.2916C>A (p.Pro972=)
c.3051C>A (p.Pro1017=)
c.3057C>A (p.Pro1019=)
c.2973C>A (p.Pro991=)
c.2958C>A (p.Pro986=)
c.2901C>A (p.Pro967=)
c.2835C>A (p.Pro945=)
c.2196C>A (p.Pro732=)
c.2814C>A (p.Pro938=)
9g.137813422C=CA1884685880EHMT1c.3072C= (p.Pro1024=)
c.2979C= (p.Pro993=)
c.3112C= (n.3112C=)
c.966C= (p.Pro322=)
c.1929C= (p.Pro643=)
c.759C=
n.598C=
c.3063C= (p.Pro1021=)
c.3054C= (p.Pro1018=)
c.3081C= (p.Pro1027=)
c.3078C= (p.Pro1026=)
c.3060C= (p.Pro1020=)
c.3003C= (p.Pro1001=)
c.2937C= (p.Pro979=)
c.1503C= (p.Pro501=)
c.855C= (p.Pro285=)
c.642C= (p.Pro214=)
c.2916C= (p.Pro972=)
c.3051C= (p.Pro1017=)
c.3057C= (p.Pro1019=)
c.2973C= (p.Pro991=)
c.2958C= (p.Pro986=)
c.2901C= (p.Pro967=)
c.2835C= (p.Pro945=)
c.2196C= (p.Pro732=)
c.2814C= (p.Pro938=)
9g.137813422C>GCA468161418EHMT1c.3072C>G (p.Pro1024=)
c.2979C>G (p.Pro993=)
c.3112C>G (n.3112C>G)
c.966C>G (p.Pro322=)
c.1929C>G (p.Pro643=)
c.759C>G
n.598C>G
c.3063C>G (p.Pro1021=)
c.3054C>G (p.Pro1018=)
c.3081C>G (p.Pro1027=)
c.3078C>G (p.Pro1026=)
c.3060C>G (p.Pro1020=)
c.3003C>G (p.Pro1001=)
c.2937C>G (p.Pro979=)
c.1503C>G (p.Pro501=)
c.855C>G (p.Pro285=)
c.642C>G (p.Pro214=)
c.2916C>G (p.Pro972=)
c.3051C>G (p.Pro1017=)
c.3057C>G (p.Pro1019=)
c.2973C>G (p.Pro991=)
c.2958C>G (p.Pro986=)
c.2901C>G (p.Pro967=)
c.2835C>G (p.Pro945=)
c.2196C>G (p.Pro732=)
c.2814C>G (p.Pro938=)
9g.137813422C>TCA5375160EHMT1c.3072C>T (p.Pro1024=)
c.2979C>T (p.Pro993=)
c.3112C>T (n.3112C>T)
c.966C>T (p.Pro322=)
c.1929C>T (p.Pro643=)
c.759C>T
n.598C>T
c.3063C>T (p.Pro1021=)
c.3054C>T (p.Pro1018=)
c.3081C>T (p.Pro1027=)
c.3078C>T (p.Pro1026=)
c.3060C>T (p.Pro1020=)
c.3003C>T (p.Pro1001=)
c.2937C>T (p.Pro979=)
c.1503C>T (p.Pro501=)
c.855C>T (p.Pro285=)
c.642C>T (p.Pro214=)
c.2916C>T (p.Pro972=)
c.3051C>T (p.Pro1017=)
c.3057C>T (p.Pro1019=)
c.2973C>T (p.Pro991=)
c.2958C>T (p.Pro986=)
c.2901C>T (p.Pro967=)
c.2835C>T (p.Pro945=)
c.2196C>T (p.Pro732=)
c.2814C>T (p.Pro938=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813422_137813423delCA645294057EHMT1c.3072_3073del (p.Val1026GlnfsTer?)
c.2979_2980del (p.Val995GlnfsTer?)
c.3112_3113del (n.3112_3113del)
c.966_967del (p.Val324GlnfsTer?)
c.1929_1930del (p.Val645GlnfsTer?)
c.759_760del
n.598_599del
c.3063_3064del (p.Val1023GlnfsTer?)
c.3054_3055del (p.Val1020GlnfsTer?)
c.3081_3082del (p.Val1029GlnfsTer?)
c.3078_3079del (p.Val1028GlnfsTer?)
c.3060_3061del (p.Val1022GlnfsTer?)
c.3003_3004del (p.Val1003GlnfsTer?)
c.2937_2938del (p.Val981GlnfsTer?)
c.1503_1504del (p.Val503GlnfsTer?)
c.855_856del (p.Val287GlnfsTer?)
c.642_643del (p.Val216GlnfsTer?)
c.2916_2917del (p.Val974GlnfsTer?)
c.3051_3052del (p.Val1019GlnfsTer?)
c.3057_3058del (p.Val1021GlnfsTer?)
c.2973_2974del (p.Val993GlnfsTer?)
c.2958_2959del (p.Val988GlnfsTer?)
c.2901_2902del (p.Val969GlnfsTer?)
c.2835_2836del (p.Val947GlnfsTer?)
c.2196_2197del (p.Val734GlnfsTer?)
c.2814_2815del (p.Val940GlnfsTer?)
 ClinVar dbSNP
9g.137813423T>ACA375793954EHMT1c.3073T>A (p.Cys1025Ser)
c.2980T>A (p.Cys994Ser)
c.3113T>A (n.3113T>A)
c.967T>A (p.Cys323Ser)
c.1930T>A (p.Cys644Ser)
c.760T>A
n.599T>A
c.3064T>A (p.Cys1022Ser)
c.3055T>A (p.Cys1019Ser)
c.3082T>A (p.Cys1028Ser)
c.3079T>A (p.Cys1027Ser)
c.3061T>A (p.Cys1021Ser)
c.3004T>A (p.Cys1002Ser)
c.2938T>A (p.Cys980Ser)
c.1504T>A (p.Cys502Ser)
c.856T>A (p.Cys286Ser)
c.643T>A (p.Cys215Ser)
c.2917T>A (p.Cys973Ser)
c.3052T>A (p.Cys1018Ser)
c.3058T>A (p.Cys1020Ser)
c.2974T>A (p.Cys992Ser)
c.2959T>A (p.Cys987Ser)
c.2902T>A (p.Cys968Ser)
c.2836T>A (p.Cys946Ser)
c.2197T>A (p.Cys733Ser)
c.2815T>A (p.Cys939Ser)
9g.137813423T>CCA375793957EHMT1c.3073T>C (p.Cys1025Arg)
c.2980T>C (p.Cys994Arg)
c.3113T>C (n.3113T>C)
c.967T>C (p.Cys323Arg)
c.1930T>C (p.Cys644Arg)
c.760T>C
n.599T>C
c.3064T>C (p.Cys1022Arg)
c.3055T>C (p.Cys1019Arg)
c.3082T>C (p.Cys1028Arg)
c.3079T>C (p.Cys1027Arg)
c.3061T>C (p.Cys1021Arg)
c.3004T>C (p.Cys1002Arg)
c.2938T>C (p.Cys980Arg)
c.1504T>C (p.Cys502Arg)
c.856T>C (p.Cys286Arg)
c.643T>C (p.Cys215Arg)
c.2917T>C (p.Cys973Arg)
c.3052T>C (p.Cys1018Arg)
c.3058T>C (p.Cys1020Arg)
c.2974T>C (p.Cys992Arg)
c.2959T>C (p.Cys987Arg)
c.2902T>C (p.Cys968Arg)
c.2836T>C (p.Cys946Arg)
c.2197T>C (p.Cys733Arg)
c.2815T>C (p.Cys939Arg)
9g.137813423T>GCA375793958EHMT1c.3073T>G (p.Cys1025Gly)
c.2980T>G (p.Cys994Gly)
c.3113T>G (n.3113T>G)
c.967T>G (p.Cys323Gly)
c.1930T>G (p.Cys644Gly)
c.760T>G
n.599T>G
c.3064T>G (p.Cys1022Gly)
c.3055T>G (p.Cys1019Gly)
c.3082T>G (p.Cys1028Gly)
c.3079T>G (p.Cys1027Gly)
c.3061T>G (p.Cys1021Gly)
c.3004T>G (p.Cys1002Gly)
c.2938T>G (p.Cys980Gly)
c.1504T>G (p.Cys502Gly)
c.856T>G (p.Cys286Gly)
c.643T>G (p.Cys215Gly)
c.2917T>G (p.Cys973Gly)
c.3052T>G (p.Cys1018Gly)
c.3058T>G (p.Cys1020Gly)
c.2974T>G (p.Cys992Gly)
c.2959T>G (p.Cys987Gly)
c.2902T>G (p.Cys968Gly)
c.2836T>G (p.Cys946Gly)
c.2197T>G (p.Cys733Gly)
c.2815T>G (p.Cys939Gly)
9g.137813424G>ACA375793960EHMT1c.3074G>A (p.Cys1025Tyr)
c.2981G>A (p.Cys994Tyr)
c.3114G>A (n.3114G>A)
c.968G>A (p.Cys323Tyr)
c.1931G>A (p.Cys644Tyr)
c.761G>A
n.600G>A
c.3065G>A (p.Cys1022Tyr)
c.3056G>A (p.Cys1019Tyr)
c.3083G>A (p.Cys1028Tyr)
c.3080G>A (p.Cys1027Tyr)
c.3062G>A (p.Cys1021Tyr)
c.3005G>A (p.Cys1002Tyr)
c.2939G>A (p.Cys980Tyr)
c.1505G>A (p.Cys502Tyr)
c.857G>A (p.Cys286Tyr)
c.644G>A (p.Cys215Tyr)
c.2918G>A (p.Cys973Tyr)
c.3053G>A (p.Cys1018Tyr)
c.3059G>A (p.Cys1020Tyr)
c.2975G>A (p.Cys992Tyr)
c.2960G>A (p.Cys987Tyr)
c.2903G>A (p.Cys968Tyr)
c.2837G>A (p.Cys946Tyr)
c.2198G>A (p.Cys733Tyr)
c.2816G>A (p.Cys939Tyr)
9g.137813424G>CCA5375161EHMT1c.3074G>C (p.Cys1025Ser)
c.2981G>C (p.Cys994Ser)
c.3114G>C (n.3114G>C)
c.968G>C (p.Cys323Ser)
c.1931G>C (p.Cys644Ser)
c.761G>C
n.600G>C
c.3065G>C (p.Cys1022Ser)
c.3056G>C (p.Cys1019Ser)
c.3083G>C (p.Cys1028Ser)
c.3080G>C (p.Cys1027Ser)
c.3062G>C (p.Cys1021Ser)
c.3005G>C (p.Cys1002Ser)
c.2939G>C (p.Cys980Ser)
c.1505G>C (p.Cys502Ser)
c.857G>C (p.Cys286Ser)
c.644G>C (p.Cys215Ser)
c.2918G>C (p.Cys973Ser)
c.3053G>C (p.Cys1018Ser)
c.3059G>C (p.Cys1020Ser)
c.2975G>C (p.Cys992Ser)
c.2960G>C (p.Cys987Ser)
c.2903G>C (p.Cys968Ser)
c.2837G>C (p.Cys946Ser)
c.2198G>C (p.Cys733Ser)
c.2816G>C (p.Cys939Ser)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
9g.137813424G=CA1884685881EHMT1c.3074G= (p.Cys1025=)
c.2981G= (p.Cys994=)
c.3114G= (n.3114G=)
c.968G= (p.Cys323=)
c.1931G= (p.Cys644=)
c.761G=
n.600G=
c.3065G= (p.Cys1022=)
c.3056G= (p.Cys1019=)
c.3083G= (p.Cys1028=)
c.3080G= (p.Cys1027=)
c.3062G= (p.Cys1021=)
c.3005G= (p.Cys1002=)
c.2939G= (p.Cys980=)
c.1505G= (p.Cys502=)
c.857G= (p.Cys286=)
c.644G= (p.Cys215=)
c.2918G= (p.Cys973=)
c.3053G= (p.Cys1018=)
c.3059G= (p.Cys1020=)
c.2975G= (p.Cys992=)
c.2960G= (p.Cys987=)
c.2903G= (p.Cys968=)
c.2837G= (p.Cys946=)
c.2198G= (p.Cys733=)
c.2816G= (p.Cys939=)
9g.137813424G>TCA375793959EHMT1c.3074G>T (p.Cys1025Phe)
c.2981G>T (p.Cys994Phe)
c.3114G>T (n.3114G>T)
c.968G>T (p.Cys323Phe)
c.1931G>T (p.Cys644Phe)
c.761G>T
n.600G>T
c.3065G>T (p.Cys1022Phe)
c.3056G>T (p.Cys1019Phe)
c.3083G>T (p.Cys1028Phe)
c.3080G>T (p.Cys1027Phe)
c.3062G>T (p.Cys1021Phe)
c.3005G>T (p.Cys1002Phe)
c.2939G>T (p.Cys980Phe)
c.1505G>T (p.Cys502Phe)
c.857G>T (p.Cys286Phe)
c.644G>T (p.Cys215Phe)
c.2918G>T (p.Cys973Phe)
c.3053G>T (p.Cys1018Phe)
c.3059G>T (p.Cys1020Phe)
c.2975G>T (p.Cys992Phe)
c.2960G>T (p.Cys987Phe)
c.2903G>T (p.Cys968Phe)
c.2837G>T (p.Cys946Phe)
c.2198G>T (p.Cys733Phe)
c.2816G>T (p.Cys939Phe)
9g.137813425T>ACA375793961EHMT1c.3075T>A (p.Cys1025Ter)
c.2982T>A (p.Cys994Ter)
c.3115T>A (n.3115T>A)
c.969T>A (p.Cys323Ter)
c.1932T>A (p.Cys644Ter)
c.762T>A
n.601T>A
c.3066T>A (p.Cys1022Ter)
c.3057T>A (p.Cys1019Ter)
c.3084T>A (p.Cys1028Ter)
c.3081T>A (p.Cys1027Ter)
c.3063T>A (p.Cys1021Ter)
c.3006T>A (p.Cys1002Ter)
c.2940T>A (p.Cys980Ter)
c.1506T>A (p.Cys502Ter)
c.858T>A (p.Cys286Ter)
c.645T>A (p.Cys215Ter)
c.2919T>A (p.Cys973Ter)
c.3054T>A (p.Cys1018Ter)
c.3060T>A (p.Cys1020Ter)
c.2976T>A (p.Cys992Ter)
c.2961T>A (p.Cys987Ter)
c.2904T>A (p.Cys968Ter)
c.2838T>A (p.Cys946Ter)
c.2199T>A (p.Cys733Ter)
c.2817T>A (p.Cys939Ter)
9g.137813425T>CCA468161419EHMT1c.3075T>C (p.Cys1025=)
c.2982T>C (p.Cys994=)
c.3115T>C (n.3115T>C)
c.969T>C (p.Cys323=)
c.1932T>C (p.Cys644=)
c.762T>C
n.601T>C
c.3066T>C (p.Cys1022=)
c.3057T>C (p.Cys1019=)
c.3084T>C (p.Cys1028=)
c.3081T>C (p.Cys1027=)
c.3063T>C (p.Cys1021=)
c.3006T>C (p.Cys1002=)
c.2940T>C (p.Cys980=)
c.1506T>C (p.Cys502=)
c.858T>C (p.Cys286=)
c.645T>C (p.Cys215=)
c.2919T>C (p.Cys973=)
c.3054T>C (p.Cys1018=)
c.3060T>C (p.Cys1020=)
c.2976T>C (p.Cys992=)
c.2961T>C (p.Cys987=)
c.2904T>C (p.Cys968=)
c.2838T>C (p.Cys946=)
c.2199T>C (p.Cys733=)
c.2817T>C (p.Cys939=)
 ClinVar dbSNP
9g.137813425T>GCA375793962EHMT1c.3075T>G (p.Cys1025Trp)
c.2982T>G (p.Cys994Trp)
c.3115T>G (n.3115T>G)
c.969T>G (p.Cys323Trp)
c.1932T>G (p.Cys644Trp)
c.762T>G
n.601T>G
c.3066T>G (p.Cys1022Trp)
c.3057T>G (p.Cys1019Trp)
c.3084T>G (p.Cys1028Trp)
c.3081T>G (p.Cys1027Trp)
c.3063T>G (p.Cys1021Trp)
c.3006T>G (p.Cys1002Trp)
c.2940T>G (p.Cys980Trp)
c.1506T>G (p.Cys502Trp)
c.858T>G (p.Cys286Trp)
c.645T>G (p.Cys215Trp)
c.2919T>G (p.Cys973Trp)
c.3054T>G (p.Cys1018Trp)
c.3060T>G (p.Cys1020Trp)
c.2976T>G (p.Cys992Trp)
c.2961T>G (p.Cys987Trp)
c.2904T>G (p.Cys968Trp)
c.2838T>G (p.Cys946Trp)
c.2199T>G (p.Cys733Trp)
c.2817T>G (p.Cys939Trp)
9g.137813426G>ACA375793964EHMT1c.3076G>A (p.Val1026Ile)
c.2983G>A (p.Val995Ile)
c.3116G>A (n.3116G>A)
c.970G>A (p.Val324Ile)
c.1933G>A (p.Val645Ile)
c.763G>A
n.602G>A
c.3067G>A (p.Val1023Ile)
c.3058G>A (p.Val1020Ile)
c.3085G>A (p.Val1029Ile)
c.3082G>A (p.Val1028Ile)
c.3064G>A (p.Val1022Ile)
c.3007G>A (p.Val1003Ile)
c.2941G>A (p.Val981Ile)
c.1507G>A (p.Val503Ile)
c.859G>A (p.Val287Ile)
c.646G>A (p.Val216Ile)
c.2920G>A (p.Val974Ile)
c.3055G>A (p.Val1019Ile)
c.3061G>A (p.Val1021Ile)
c.2977G>A (p.Val993Ile)
c.2962G>A (p.Val988Ile)
c.2905G>A (p.Val969Ile)
c.2839G>A (p.Val947Ile)
c.2200G>A (p.Val734Ile)
c.2818G>A (p.Val940Ile)
9g.137813426G>CCA375793966EHMT1c.3076G>C (p.Val1026Leu)
c.2983G>C (p.Val995Leu)
c.3116G>C (n.3116G>C)
c.970G>C (p.Val324Leu)
c.1933G>C (p.Val645Leu)
c.763G>C
n.602G>C
c.3067G>C (p.Val1023Leu)
c.3058G>C (p.Val1020Leu)
c.3085G>C (p.Val1029Leu)
c.3082G>C (p.Val1028Leu)
c.3064G>C (p.Val1022Leu)
c.3007G>C (p.Val1003Leu)
c.2941G>C (p.Val981Leu)
c.1507G>C (p.Val503Leu)
c.859G>C (p.Val287Leu)
c.646G>C (p.Val216Leu)
c.2920G>C (p.Val974Leu)
c.3055G>C (p.Val1019Leu)
c.3061G>C (p.Val1021Leu)
c.2977G>C (p.Val993Leu)
c.2962G>C (p.Val988Leu)
c.2905G>C (p.Val969Leu)
c.2839G>C (p.Val947Leu)
c.2200G>C (p.Val734Leu)
c.2818G>C (p.Val940Leu)
9g.137813426G>TCA375793969EHMT1c.3076G>T (p.Val1026Phe)
c.2983G>T (p.Val995Phe)
c.3116G>T (n.3116G>T)
c.970G>T (p.Val324Phe)
c.1933G>T (p.Val645Phe)
c.763G>T
n.602G>T
c.3067G>T (p.Val1023Phe)
c.3058G>T (p.Val1020Phe)
c.3085G>T (p.Val1029Phe)
c.3082G>T (p.Val1028Phe)
c.3064G>T (p.Val1022Phe)
c.3007G>T (p.Val1003Phe)
c.2941G>T (p.Val981Phe)
c.1507G>T (p.Val503Phe)
c.859G>T (p.Val287Phe)
c.646G>T (p.Val216Phe)
c.2920G>T (p.Val974Phe)
c.3055G>T (p.Val1019Phe)
c.3061G>T (p.Val1021Phe)
c.2977G>T (p.Val993Phe)
c.2962G>T (p.Val988Phe)
c.2905G>T (p.Val969Phe)
c.2839G>T (p.Val947Phe)
c.2200G>T (p.Val734Phe)
c.2818G>T (p.Val940Phe)
9g.137813427T>ACA375793974EHMT1c.3077T>A (p.Val1026Asp)
c.2984T>A (p.Val995Asp)
c.3117T>A (n.3117T>A)
c.971T>A (p.Val324Asp)
c.1934T>A (p.Val645Asp)
c.764T>A
n.603T>A
c.3068T>A (p.Val1023Asp)
c.3059T>A (p.Val1020Asp)
c.3086T>A (p.Val1029Asp)
c.3083T>A (p.Val1028Asp)
c.3065T>A (p.Val1022Asp)
c.3008T>A (p.Val1003Asp)
c.2942T>A (p.Val981Asp)
c.1508T>A (p.Val503Asp)
c.860T>A (p.Val287Asp)
c.647T>A (p.Val216Asp)
c.2921T>A (p.Val974Asp)
c.3056T>A (p.Val1019Asp)
c.3062T>A (p.Val1021Asp)
c.2978T>A (p.Val993Asp)
c.2963T>A (p.Val988Asp)
c.2906T>A (p.Val969Asp)
c.2840T>A (p.Val947Asp)
c.2201T>A (p.Val734Asp)
c.2819T>A (p.Val940Asp)
9g.137813427T>CCA375793972EHMT1c.3077T>C (p.Val1026Ala)
c.2984T>C (p.Val995Ala)
c.3117T>C (n.3117T>C)
c.971T>C (p.Val324Ala)
c.1934T>C (p.Val645Ala)
c.764T>C
n.603T>C
c.3068T>C (p.Val1023Ala)
c.3059T>C (p.Val1020Ala)
c.3086T>C (p.Val1029Ala)
c.3083T>C (p.Val1028Ala)
c.3065T>C (p.Val1022Ala)
c.3008T>C (p.Val1003Ala)
c.2942T>C (p.Val981Ala)
c.1508T>C (p.Val503Ala)
c.860T>C (p.Val287Ala)
c.647T>C (p.Val216Ala)
c.2921T>C (p.Val974Ala)
c.3056T>C (p.Val1019Ala)
c.3062T>C (p.Val1021Ala)
c.2978T>C (p.Val993Ala)
c.2963T>C (p.Val988Ala)
c.2906T>C (p.Val969Ala)
c.2840T>C (p.Val947Ala)
c.2201T>C (p.Val734Ala)
c.2819T>C (p.Val940Ala)
9g.137813427T>GCA375793971EHMT1c.3077T>G (p.Val1026Gly)
c.2984T>G (p.Val995Gly)
c.3117T>G (n.3117T>G)
c.971T>G (p.Val324Gly)
c.1934T>G (p.Val645Gly)
c.764T>G
n.603T>G
c.3068T>G (p.Val1023Gly)
c.3059T>G (p.Val1020Gly)
c.3086T>G (p.Val1029Gly)
c.3083T>G (p.Val1028Gly)
c.3065T>G (p.Val1022Gly)
c.3008T>G (p.Val1003Gly)
c.2942T>G (p.Val981Gly)
c.1508T>G (p.Val503Gly)
c.860T>G (p.Val287Gly)
c.647T>G (p.Val216Gly)
c.2921T>G (p.Val974Gly)
c.3056T>G (p.Val1019Gly)
c.3062T>G (p.Val1021Gly)
c.2978T>G (p.Val993Gly)
c.2963T>G (p.Val988Gly)
c.2906T>G (p.Val969Gly)
c.2840T>G (p.Val947Gly)
c.2201T>G (p.Val734Gly)
c.2819T>G (p.Val940Gly)
 dbSNP
9g.137813427T=CA1884685882EHMT1c.3077T= (p.Val1026=)
c.2984T= (p.Val995=)
c.3117T= (n.3117T=)
c.971T= (p.Val324=)
c.1934T= (p.Val645=)
c.764T=
n.603T=
c.3068T= (p.Val1023=)
c.3059T= (p.Val1020=)
c.3086T= (p.Val1029=)
c.3083T= (p.Val1028=)
c.3065T= (p.Val1022=)
c.3008T= (p.Val1003=)
c.2942T= (p.Val981=)
c.1508T= (p.Val503=)
c.860T= (p.Val287=)
c.647T= (p.Val216=)
c.2921T= (p.Val974=)
c.3056T= (p.Val1019=)
c.3062T= (p.Val1021=)
c.2978T= (p.Val993=)
c.2963T= (p.Val988=)
c.2906T= (p.Val969=)
c.2840T= (p.Val947=)
c.2201T= (p.Val734=)
c.2819T= (p.Val940=)
9g.137813428C>ACA468161420EHMT1c.3078C>A (p.Val1026=)
c.2985C>A (p.Val995=)
c.3118C>A (n.3118C>A)
c.972C>A (p.Val324=)
c.1935C>A (p.Val645=)
c.765C>A
n.604C>A
c.3069C>A (p.Val1023=)
c.3060C>A (p.Val1020=)
c.3087C>A (p.Val1029=)
c.3084C>A (p.Val1028=)
c.3066C>A (p.Val1022=)
c.3009C>A (p.Val1003=)
c.2943C>A (p.Val981=)
c.1509C>A (p.Val503=)
c.861C>A (p.Val287=)
c.648C>A (p.Val216=)
c.2922C>A (p.Val974=)
c.3057C>A (p.Val1019=)
c.3063C>A (p.Val1021=)
c.2979C>A (p.Val993=)
c.2964C>A (p.Val988=)
c.2907C>A (p.Val969=)
c.2841C>A (p.Val947=)
c.2202C>A (p.Val734=)
c.2820C>A (p.Val940=)
9g.137813428C=CA1884685883EHMT1c.3078C= (p.Val1026=)
c.2985C= (p.Val995=)
c.3118C= (n.3118C=)
c.972C= (p.Val324=)
c.1935C= (p.Val645=)
c.765C=
n.604C=
c.3069C= (p.Val1023=)
c.3060C= (p.Val1020=)
c.3087C= (p.Val1029=)
c.3084C= (p.Val1028=)
c.3066C= (p.Val1022=)
c.3009C= (p.Val1003=)
c.2943C= (p.Val981=)
c.1509C= (p.Val503=)
c.861C= (p.Val287=)
c.648C= (p.Val216=)
c.2922C= (p.Val974=)
c.3057C= (p.Val1019=)
c.3063C= (p.Val1021=)
c.2979C= (p.Val993=)
c.2964C= (p.Val988=)
c.2907C= (p.Val969=)
c.2841C= (p.Val947=)
c.2202C= (p.Val734=)
c.2820C= (p.Val940=)
9g.137813428C>GCA468161421EHMT1c.3078C>G (p.Val1026=)
c.2985C>G (p.Val995=)
c.3118C>G (n.3118C>G)
c.972C>G (p.Val324=)
c.1935C>G (p.Val645=)
c.765C>G
n.604C>G
c.3069C>G (p.Val1023=)
c.3060C>G (p.Val1020=)
c.3087C>G (p.Val1029=)
c.3084C>G (p.Val1028=)
c.3066C>G (p.Val1022=)
c.3009C>G (p.Val1003=)
c.2943C>G (p.Val981=)
c.1509C>G (p.Val503=)
c.861C>G (p.Val287=)
c.648C>G (p.Val216=)
c.2922C>G (p.Val974=)
c.3057C>G (p.Val1019=)
c.3063C>G (p.Val1021=)
c.2979C>G (p.Val993=)
c.2964C>G (p.Val988=)
c.2907C>G (p.Val969=)
c.2841C>G (p.Val947=)
c.2202C>G (p.Val734=)
c.2820C>G (p.Val940=)
9g.137813428C>TCA468161422EHMT1c.3078C>T (p.Val1026=)
c.2985C>T (p.Val995=)
c.3118C>T (n.3118C>T)
c.972C>T (p.Val324=)
c.1935C>T (p.Val645=)
c.765C>T
n.604C>T
c.3069C>T (p.Val1023=)
c.3060C>T (p.Val1020=)
c.3087C>T (p.Val1029=)
c.3084C>T (p.Val1028=)
c.3066C>T (p.Val1022=)
c.3009C>T (p.Val1003=)
c.2943C>T (p.Val981=)
c.1509C>T (p.Val503=)
c.861C>T (p.Val287=)
c.648C>T (p.Val216=)
c.2922C>T (p.Val974=)
c.3057C>T (p.Val1019=)
c.3063C>T (p.Val1021=)
c.2979C>T (p.Val993=)
c.2964C>T (p.Val988=)
c.2907C>T (p.Val969=)
c.2841C>T (p.Val947=)
c.2202C>T (p.Val734=)
c.2820C>T (p.Val940=)
 dbSNP
9g.137813429A>CCA375793976EHMT1c.3079A>C (p.Asn1027His)
c.2986A>C (p.Asn996His)
c.3119A>C (n.3119A>C)
c.973A>C (p.Asn325His)
c.1936A>C (p.Asn646His)
c.766A>C
n.605A>C
c.3070A>C (p.Asn1024His)
c.3061A>C (p.Asn1021His)
c.3088A>C (p.Asn1030His)
c.3085A>C (p.Asn1029His)
c.3067A>C (p.Asn1023His)
c.3010A>C (p.Asn1004His)
c.2944A>C (p.Asn982His)
c.1510A>C (p.Asn504His)
c.862A>C (p.Asn288His)
c.649A>C (p.Asn217His)
c.2923A>C (p.Asn975His)
c.3058A>C (p.Asn1020His)
c.3064A>C (p.Asn1022His)
c.2980A>C (p.Asn994His)
c.2965A>C (p.Asn989His)
c.2908A>C (p.Asn970His)
c.2842A>C (p.Asn948His)
c.2203A>C (p.Asn735His)
c.2821A>C (p.Asn941His)
9g.137813429A>GCA375793979EHMT1c.3079A>G (p.Asn1027Asp)
c.2986A>G (p.Asn996Asp)
c.3119A>G (n.3119A>G)
c.973A>G (p.Asn325Asp)
c.1936A>G (p.Asn646Asp)
c.766A>G
n.605A>G
c.3070A>G (p.Asn1024Asp)
c.3061A>G (p.Asn1021Asp)
c.3088A>G (p.Asn1030Asp)
c.3085A>G (p.Asn1029Asp)
c.3067A>G (p.Asn1023Asp)
c.3010A>G (p.Asn1004Asp)
c.2944A>G (p.Asn982Asp)
c.1510A>G (p.Asn504Asp)
c.862A>G (p.Asn288Asp)
c.649A>G (p.Asn217Asp)
c.2923A>G (p.Asn975Asp)
c.3058A>G (p.Asn1020Asp)
c.3064A>G (p.Asn1022Asp)
c.2980A>G (p.Asn994Asp)
c.2965A>G (p.Asn989Asp)
c.2908A>G (p.Asn970Asp)
c.2842A>G (p.Asn948Asp)
c.2203A>G (p.Asn735Asp)
c.2821A>G (p.Asn941Asp)
9g.137813429A>TCA375793982EHMT1c.3079A>T (p.Asn1027Tyr)
c.2986A>T (p.Asn996Tyr)
c.3119A>T (n.3119A>T)
c.973A>T (p.Asn325Tyr)
c.1936A>T (p.Asn646Tyr)
c.766A>T
n.605A>T
c.3070A>T (p.Asn1024Tyr)
c.3061A>T (p.Asn1021Tyr)
c.3088A>T (p.Asn1030Tyr)
c.3085A>T (p.Asn1029Tyr)
c.3067A>T (p.Asn1023Tyr)
c.3010A>T (p.Asn1004Tyr)
c.2944A>T (p.Asn982Tyr)
c.1510A>T (p.Asn504Tyr)
c.862A>T (p.Asn288Tyr)
c.649A>T (p.Asn217Tyr)
c.2923A>T (p.Asn975Tyr)
c.3058A>T (p.Asn1020Tyr)
c.3064A>T (p.Asn1022Tyr)
c.2980A>T (p.Asn994Tyr)
c.2965A>T (p.Asn989Tyr)
c.2908A>T (p.Asn970Tyr)
c.2842A>T (p.Asn948Tyr)
c.2203A>T (p.Asn735Tyr)
c.2821A>T (p.Asn941Tyr)
9g.137813430A=CA1884685884EHMT1c.3080A= (p.Asn1027=)
c.2987A= (p.Asn996=)
c.3120A= (n.3120A=)
c.974A= (p.Asn325=)
c.1937A= (p.Asn646=)
c.767A=
n.606A=
c.3071A= (p.Asn1024=)
c.3062A= (p.Asn1021=)
c.3089A= (p.Asn1030=)
c.3086A= (p.Asn1029=)
c.3068A= (p.Asn1023=)
c.3011A= (p.Asn1004=)
c.2945A= (p.Asn982=)
c.1511A= (p.Asn504=)
c.863A= (p.Asn288=)
c.650A= (p.Asn217=)
c.2924A= (p.Asn975=)
c.3059A= (p.Asn1020=)
c.3065A= (p.Asn1022=)
c.2981A= (p.Asn994=)
c.2966A= (p.Asn989=)
c.2909A= (p.Asn970=)
c.2843A= (p.Asn948=)
c.2204A= (p.Asn735=)
c.2822A= (p.Asn941=)
9g.137813430A>CCA375793983EHMT1c.3080A>C (p.Asn1027Thr)
c.2987A>C (p.Asn996Thr)
c.3120A>C (n.3120A>C)
c.974A>C (p.Asn325Thr)
c.1937A>C (p.Asn646Thr)
c.767A>C
n.606A>C
c.3071A>C (p.Asn1024Thr)
c.3062A>C (p.Asn1021Thr)
c.3089A>C (p.Asn1030Thr)
c.3086A>C (p.Asn1029Thr)
c.3068A>C (p.Asn1023Thr)
c.3011A>C (p.Asn1004Thr)
c.2945A>C (p.Asn982Thr)
c.1511A>C (p.Asn504Thr)
c.863A>C (p.Asn288Thr)
c.650A>C (p.Asn217Thr)
c.2924A>C (p.Asn975Thr)
c.3059A>C (p.Asn1020Thr)
c.3065A>C (p.Asn1022Thr)
c.2981A>C (p.Asn994Thr)
c.2966A>C (p.Asn989Thr)
c.2909A>C (p.Asn970Thr)
c.2843A>C (p.Asn948Thr)
c.2204A>C (p.Asn735Thr)
c.2822A>C (p.Asn941Thr)
9g.137813430A>GCA375793985EHMT1c.3080A>G (p.Asn1027Ser)
c.2987A>G (p.Asn996Ser)
c.3120A>G (n.3120A>G)
c.974A>G (p.Asn325Ser)
c.1937A>G (p.Asn646Ser)
c.767A>G
n.606A>G
c.3071A>G (p.Asn1024Ser)
c.3062A>G (p.Asn1021Ser)
c.3089A>G (p.Asn1030Ser)
c.3086A>G (p.Asn1029Ser)
c.3068A>G (p.Asn1023Ser)
c.3011A>G (p.Asn1004Ser)
c.2945A>G (p.Asn982Ser)
c.1511A>G (p.Asn504Ser)
c.863A>G (p.Asn288Ser)
c.650A>G (p.Asn217Ser)
c.2924A>G (p.Asn975Ser)
c.3059A>G (p.Asn1020Ser)
c.3065A>G (p.Asn1022Ser)
c.2981A>G (p.Asn994Ser)
c.2966A>G (p.Asn989Ser)
c.2909A>G (p.Asn970Ser)
c.2843A>G (p.Asn948Ser)
c.2204A>G (p.Asn735Ser)
c.2822A>G (p.Asn941Ser)
 dbSNP gnomAD v2
9g.137813430A>TCA375793988EHMT1c.3080A>T (p.Asn1027Ile)
c.2987A>T (p.Asn996Ile)
c.3120A>T (n.3120A>T)
c.974A>T (p.Asn325Ile)
c.1937A>T (p.Asn646Ile)
c.767A>T
n.606A>T
c.3071A>T (p.Asn1024Ile)
c.3062A>T (p.Asn1021Ile)
c.3089A>T (p.Asn1030Ile)
c.3086A>T (p.Asn1029Ile)
c.3068A>T (p.Asn1023Ile)
c.3011A>T (p.Asn1004Ile)
c.2945A>T (p.Asn982Ile)
c.1511A>T (p.Asn504Ile)
c.863A>T (p.Asn288Ile)
c.650A>T (p.Asn217Ile)
c.2924A>T (p.Asn975Ile)
c.3059A>T (p.Asn1020Ile)
c.3065A>T (p.Asn1022Ile)
c.2981A>T (p.Asn994Ile)
c.2966A>T (p.Asn989Ile)
c.2909A>T (p.Asn970Ile)
c.2843A>T (p.Asn948Ile)
c.2204A>T (p.Asn735Ile)
c.2822A>T (p.Asn941Ile)
9g.137813431C>ACA375793992EHMT1c.3081C>A (p.Asn1027Lys)
c.2988C>A (p.Asn996Lys)
c.3121C>A (n.3121C>A)
c.975C>A (p.Asn325Lys)
c.1938C>A (p.Asn646Lys)
c.768C>A
n.607C>A
c.3072C>A (p.Asn1024Lys)
c.3063C>A (p.Asn1021Lys)
c.3090C>A (p.Asn1030Lys)
c.3087C>A (p.Asn1029Lys)
c.3069C>A (p.Asn1023Lys)
c.3012C>A (p.Asn1004Lys)
c.2946C>A (p.Asn982Lys)
c.1512C>A (p.Asn504Lys)
c.864C>A (p.Asn288Lys)
c.651C>A (p.Asn217Lys)
c.2925C>A (p.Asn975Lys)
c.3060C>A (p.Asn1020Lys)
c.3066C>A (p.Asn1022Lys)
c.2982C>A (p.Asn994Lys)
c.2967C>A (p.Asn989Lys)
c.2910C>A (p.Asn970Lys)
c.2844C>A (p.Asn948Lys)
c.2205C>A (p.Asn735Lys)
c.2823C>A (p.Asn941Lys)
9g.137813431C=CA1884685885EHMT1c.3081C= (p.Asn1027=)
c.2988C= (p.Asn996=)
c.3121C= (n.3121C=)
c.975C= (p.Asn325=)
c.1938C= (p.Asn646=)
c.768C=
n.607C=
c.3072C= (p.Asn1024=)
c.3063C= (p.Asn1021=)
c.3090C= (p.Asn1030=)
c.3087C= (p.Asn1029=)
c.3069C= (p.Asn1023=)
c.3012C= (p.Asn1004=)
c.2946C= (p.Asn982=)
c.1512C= (p.Asn504=)
c.864C= (p.Asn288=)
c.651C= (p.Asn217=)
c.2925C= (p.Asn975=)
c.3060C= (p.Asn1020=)
c.3066C= (p.Asn1022=)
c.2982C= (p.Asn994=)
c.2967C= (p.Asn989=)
c.2910C= (p.Asn970=)
c.2844C= (p.Asn948=)
c.2205C= (p.Asn735=)
c.2823C= (p.Asn941=)
9g.137813431C>GCA375793991EHMT1c.3081C>G (p.Asn1027Lys)
c.2988C>G (p.Asn996Lys)
c.3121C>G (n.3121C>G)
c.975C>G (p.Asn325Lys)
c.1938C>G (p.Asn646Lys)
c.768C>G
n.607C>G
c.3072C>G (p.Asn1024Lys)
c.3063C>G (p.Asn1021Lys)
c.3090C>G (p.Asn1030Lys)
c.3087C>G (p.Asn1029Lys)
c.3069C>G (p.Asn1023Lys)
c.3012C>G (p.Asn1004Lys)
c.2946C>G (p.Asn982Lys)
c.1512C>G (p.Asn504Lys)
c.864C>G (p.Asn288Lys)
c.651C>G (p.Asn217Lys)
c.2925C>G (p.Asn975Lys)
c.3060C>G (p.Asn1020Lys)
c.3066C>G (p.Asn1022Lys)
c.2982C>G (p.Asn994Lys)
c.2967C>G (p.Asn989Lys)
c.2910C>G (p.Asn970Lys)
c.2844C>G (p.Asn948Lys)
c.2205C>G (p.Asn735Lys)
c.2823C>G (p.Asn941Lys)
9g.137813431C>TCA242094EHMT1c.3081C>T (p.Asn1027=)
c.2988C>T (p.Asn996=)
c.3121C>T (n.3121C>T)
c.975C>T (p.Asn325=)
c.1938C>T (p.Asn646=)
c.768C>T
n.607C>T
c.3072C>T (p.Asn1024=)
c.3063C>T (p.Asn1021=)
c.3090C>T (p.Asn1030=)
c.3087C>T (p.Asn1029=)
c.3069C>T (p.Asn1023=)
c.3012C>T (p.Asn1004=)
c.2946C>T (p.Asn982=)
c.1512C>T (p.Asn504=)
c.864C>T (p.Asn288=)
c.651C>T (p.Asn217=)
c.2925C>T (p.Asn975=)
c.3060C>T (p.Asn1020=)
c.3066C>T (p.Asn1022=)
c.2982C>T (p.Asn994=)
c.2967C>T (p.Asn989=)
c.2910C>T (p.Asn970=)
c.2844C>T (p.Asn948=)
c.2205C>T (p.Asn735=)
c.2823C>T (p.Asn941=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.137813432G>ACA5375162EHMT1c.3082G>A (p.Ala1028Thr)
c.2989G>A (p.Ala997Thr)
c.3122G>A (n.3122G>A)
c.976G>A (p.Ala326Thr)
c.1939G>A (p.Ala647Thr)
c.769G>A
n.608G>A
c.3073G>A (p.Ala1025Thr)
c.3064G>A (p.Ala1022Thr)
c.3091G>A (p.Ala1031Thr)
c.3088G>A (p.Ala1030Thr)
c.3070G>A (p.Ala1024Thr)
c.3013G>A (p.Ala1005Thr)
c.2947G>A (p.Ala983Thr)
c.1513G>A (p.Ala505Thr)
c.865G>A (p.Ala289Thr)
c.652G>A (p.Ala218Thr)
c.2926G>A (p.Ala976Thr)
c.3061G>A (p.Ala1021Thr)
c.3067G>A (p.Ala1023Thr)
c.2983G>A (p.Ala995Thr)
c.2968G>A (p.Ala990Thr)
c.2911G>A (p.Ala971Thr)
c.2845G>A (p.Ala949Thr)
c.2206G>A (p.Ala736Thr)
c.2824G>A (p.Ala942Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813432G>CCA375793997EHMT1c.3082G>C (p.Ala1028Pro)
c.2989G>C (p.Ala997Pro)
c.3122G>C (n.3122G>C)
c.976G>C (p.Ala326Pro)
c.1939G>C (p.Ala647Pro)
c.769G>C
n.608G>C
c.3073G>C (p.Ala1025Pro)
c.3064G>C (p.Ala1022Pro)
c.3091G>C (p.Ala1031Pro)
c.3088G>C (p.Ala1030Pro)
c.3070G>C (p.Ala1024Pro)
c.3013G>C (p.Ala1005Pro)
c.2947G>C (p.Ala983Pro)
c.1513G>C (p.Ala505Pro)
c.865G>C (p.Ala289Pro)
c.652G>C (p.Ala218Pro)
c.2926G>C (p.Ala976Pro)
c.3061G>C (p.Ala1021Pro)
c.3067G>C (p.Ala1023Pro)
c.2983G>C (p.Ala995Pro)
c.2968G>C (p.Ala990Pro)
c.2911G>C (p.Ala971Pro)
c.2845G>C (p.Ala949Pro)
c.2206G>C (p.Ala736Pro)
c.2824G>C (p.Ala942Pro)
9g.137813432G=CA1884685886EHMT1c.3082G= (p.Ala1028=)
c.2989G= (p.Ala997=)
c.3122G= (n.3122G=)
c.976G= (p.Ala326=)
c.1939G= (p.Ala647=)
c.769G=
n.608G=
c.3073G= (p.Ala1025=)
c.3064G= (p.Ala1022=)
c.3091G= (p.Ala1031=)
c.3088G= (p.Ala1030=)
c.3070G= (p.Ala1024=)
c.3013G= (p.Ala1005=)
c.2947G= (p.Ala983=)
c.1513G= (p.Ala505=)
c.865G= (p.Ala289=)
c.652G= (p.Ala218=)
c.2926G= (p.Ala976=)
c.3061G= (p.Ala1021=)
c.3067G= (p.Ala1023=)
c.2983G= (p.Ala995=)
c.2968G= (p.Ala990=)
c.2911G= (p.Ala971=)
c.2845G= (p.Ala949=)
c.2206G= (p.Ala736=)
c.2824G= (p.Ala942=)
9g.137813432G>TCA375793998EHMT1c.3082G>T (p.Ala1028Ser)
c.2989G>T (p.Ala997Ser)
c.3122G>T (n.3122G>T)
c.976G>T (p.Ala326Ser)
c.1939G>T (p.Ala647Ser)
c.769G>T
n.608G>T
c.3073G>T (p.Ala1025Ser)
c.3064G>T (p.Ala1022Ser)
c.3091G>T (p.Ala1031Ser)
c.3088G>T (p.Ala1030Ser)
c.3070G>T (p.Ala1024Ser)
c.3013G>T (p.Ala1005Ser)
c.2947G>T (p.Ala983Ser)
c.1513G>T (p.Ala505Ser)
c.865G>T (p.Ala289Ser)
c.652G>T (p.Ala218Ser)
c.2926G>T (p.Ala976Ser)
c.3061G>T (p.Ala1021Ser)
c.3067G>T (p.Ala1023Ser)
c.2983G>T (p.Ala995Ser)
c.2968G>T (p.Ala990Ser)
c.2911G>T (p.Ala971Ser)
c.2845G>T (p.Ala949Ser)
c.2206G>T (p.Ala736Ser)
c.2824G>T (p.Ala942Ser)
 ClinVar
9g.137813433C>ACA375794000EHMT1c.3083C>A (p.Ala1028Asp)
c.2990C>A (p.Ala997Asp)
c.3123C>A (n.3123C>A)
c.977C>A (p.Ala326Asp)
c.1940C>A (p.Ala647Asp)
c.770C>A
n.609C>A
c.3074C>A (p.Ala1025Asp)
c.3065C>A (p.Ala1022Asp)
c.3092C>A (p.Ala1031Asp)
c.3089C>A (p.Ala1030Asp)
c.3071C>A (p.Ala1024Asp)
c.3014C>A (p.Ala1005Asp)
c.2948C>A (p.Ala983Asp)
c.1514C>A (p.Ala505Asp)
c.866C>A (p.Ala289Asp)
c.653C>A (p.Ala218Asp)
c.2927C>A (p.Ala976Asp)
c.3062C>A (p.Ala1021Asp)
c.3068C>A (p.Ala1023Asp)
c.2984C>A (p.Ala995Asp)
c.2969C>A (p.Ala990Asp)
c.2912C>A (p.Ala971Asp)
c.2846C>A (p.Ala949Asp)
c.2207C>A (p.Ala736Asp)
c.2825C>A (p.Ala942Asp)
9g.137813433C>GCA375794002EHMT1c.3083C>G (p.Ala1028Gly)
c.2990C>G (p.Ala997Gly)
c.3123C>G (n.3123C>G)
c.977C>G (p.Ala326Gly)
c.1940C>G (p.Ala647Gly)
c.770C>G
n.609C>G
c.3074C>G (p.Ala1025Gly)
c.3065C>G (p.Ala1022Gly)
c.3092C>G (p.Ala1031Gly)
c.3089C>G (p.Ala1030Gly)
c.3071C>G (p.Ala1024Gly)
c.3014C>G (p.Ala1005Gly)
c.2948C>G (p.Ala983Gly)
c.1514C>G (p.Ala505Gly)
c.866C>G (p.Ala289Gly)
c.653C>G (p.Ala218Gly)
c.2927C>G (p.Ala976Gly)
c.3062C>G (p.Ala1021Gly)
c.3068C>G (p.Ala1023Gly)
c.2984C>G (p.Ala995Gly)
c.2969C>G (p.Ala990Gly)
c.2912C>G (p.Ala971Gly)
c.2846C>G (p.Ala949Gly)
c.2207C>G (p.Ala736Gly)
c.2825C>G (p.Ala942Gly)
9g.137813433C>TCA375794005EHMT1c.3083C>T (p.Ala1028Val)
c.2990C>T (p.Ala997Val)
c.3123C>T (n.3123C>T)
c.977C>T (p.Ala326Val)
c.1940C>T (p.Ala647Val)
c.770C>T
n.609C>T
c.3074C>T (p.Ala1025Val)
c.3065C>T (p.Ala1022Val)
c.3092C>T (p.Ala1031Val)
c.3089C>T (p.Ala1030Val)
c.3071C>T (p.Ala1024Val)
c.3014C>T (p.Ala1005Val)
c.2948C>T (p.Ala983Val)
c.1514C>T (p.Ala505Val)
c.866C>T (p.Ala289Val)
c.653C>T (p.Ala218Val)
c.2927C>T (p.Ala976Val)
c.3062C>T (p.Ala1021Val)
c.3068C>T (p.Ala1023Val)
c.2984C>T (p.Ala995Val)
c.2969C>T (p.Ala990Val)
c.2912C>T (p.Ala971Val)
c.2846C>T (p.Ala949Val)
c.2207C>T (p.Ala736Val)
c.2825C>T (p.Ala942Val)
 COSMIC COSMIC
9g.137813434C>ACA468161423EHMT1c.3084C>A (p.Ala1028=)
c.2991C>A (p.Ala997=)
c.3124C>A (n.3124C>A)
c.978C>A (p.Ala326=)
c.1941C>A (p.Ala647=)
c.771C>A
n.610C>A
c.3075C>A (p.Ala1025=)
c.3066C>A (p.Ala1022=)
c.3093C>A (p.Ala1031=)
c.3090C>A (p.Ala1030=)
c.3072C>A (p.Ala1024=)
c.3015C>A (p.Ala1005=)
c.2949C>A (p.Ala983=)
c.1515C>A (p.Ala505=)
c.867C>A (p.Ala289=)
c.654C>A (p.Ala218=)
c.2928C>A (p.Ala976=)
c.3063C>A (p.Ala1021=)
c.3069C>A (p.Ala1023=)
c.2985C>A (p.Ala995=)
c.2970C>A (p.Ala990=)
c.2913C>A (p.Ala971=)
c.2847C>A (p.Ala949=)
c.2208C>A (p.Ala736=)
c.2826C>A (p.Ala942=)
9g.137813434C=CA1884685887EHMT1c.3084C= (p.Ala1028=)
c.2991C= (p.Ala997=)
c.3124C= (n.3124C=)
c.978C= (p.Ala326=)
c.1941C= (p.Ala647=)
c.771C=
n.610C=
c.3075C= (p.Ala1025=)
c.3066C= (p.Ala1022=)
c.3093C= (p.Ala1031=)
c.3090C= (p.Ala1030=)
c.3072C= (p.Ala1024=)
c.3015C= (p.Ala1005=)
c.2949C= (p.Ala983=)
c.1515C= (p.Ala505=)
c.867C= (p.Ala289=)
c.654C= (p.Ala218=)
c.2928C= (p.Ala976=)
c.3063C= (p.Ala1021=)
c.3069C= (p.Ala1023=)
c.2985C= (p.Ala995=)
c.2970C= (p.Ala990=)
c.2913C= (p.Ala971=)
c.2847C= (p.Ala949=)
c.2208C= (p.Ala736=)
c.2826C= (p.Ala942=)
9g.137813434C>GCA468161424EHMT1c.3084C>G (p.Ala1028=)
c.2991C>G (p.Ala997=)
c.3124C>G (n.3124C>G)
c.978C>G (p.Ala326=)
c.1941C>G (p.Ala647=)
c.771C>G
n.610C>G
c.3075C>G (p.Ala1025=)
c.3066C>G (p.Ala1022=)
c.3093C>G (p.Ala1031=)
c.3090C>G (p.Ala1030=)
c.3072C>G (p.Ala1024=)
c.3015C>G (p.Ala1005=)
c.2949C>G (p.Ala983=)
c.1515C>G (p.Ala505=)
c.867C>G (p.Ala289=)
c.654C>G (p.Ala218=)
c.2928C>G (p.Ala976=)
c.3063C>G (p.Ala1021=)
c.3069C>G (p.Ala1023=)
c.2985C>G (p.Ala995=)
c.2970C>G (p.Ala990=)
c.2913C>G (p.Ala971=)
c.2847C>G (p.Ala949=)
c.2208C>G (p.Ala736=)
c.2826C>G (p.Ala942=)
 gnomAD v4
9g.137813434C>TCA468161425EHMT1c.3084C>T (p.Ala1028=)
c.2991C>T (p.Ala997=)
c.3124C>T (n.3124C>T)
c.978C>T (p.Ala326=)
c.1941C>T (p.Ala647=)
c.771C>T
n.610C>T
c.3075C>T (p.Ala1025=)
c.3066C>T (p.Ala1022=)
c.3093C>T (p.Ala1031=)
c.3090C>T (p.Ala1030=)
c.3072C>T (p.Ala1024=)
c.3015C>T (p.Ala1005=)
c.2949C>T (p.Ala983=)
c.1515C>T (p.Ala505=)
c.867C>T (p.Ala289=)
c.654C>T (p.Ala218=)
c.2928C>T (p.Ala976=)
c.3063C>T (p.Ala1021=)
c.3069C>T (p.Ala1023=)
c.2985C>T (p.Ala995=)
c.2970C>T (p.Ala990=)
c.2913C>T (p.Ala971=)
c.2847C>T (p.Ala949=)
c.2208C>T (p.Ala736=)
c.2826C>T (p.Ala942=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.137813435G>ACA201843708EHMT1c.3085G>A (p.Val1029Met)
c.2992G>A (p.Val998Met)
c.3125G>A (n.3125G>A)
c.979G>A (p.Val327Met)
c.1942G>A (p.Val648Met)
c.772G>A
n.611G>A
c.3076G>A (p.Val1026Met)
c.3067G>A (p.Val1023Met)
c.3094G>A (p.Val1032Met)
c.3091G>A (p.Val1031Met)
c.3073G>A (p.Val1025Met)
c.3016G>A (p.Val1006Met)
c.2950G>A (p.Val984Met)
c.1516G>A (p.Val506Met)
c.868G>A (p.Val290Met)
c.655G>A (p.Val219Met)
c.2929G>A (p.Val977Met)
c.3064G>A (p.Val1022Met)
c.3070G>A (p.Val1024Met)
c.2986G>A (p.Val996Met)
c.2971G>A (p.Val991Met)
c.2914G>A (p.Val972Met)
c.2848G>A (p.Val950Met)
c.2209G>A (p.Val737Met)
c.2827G>A (p.Val943Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.137813435G>CCA375794006EHMT1c.3085G>C (p.Val1029Leu)
c.2992G>C (p.Val998Leu)
c.3125G>C (n.3125G>C)
c.979G>C (p.Val327Leu)
c.1942G>C (p.Val648Leu)
c.772G>C
n.611G>C
c.3076G>C (p.Val1026Leu)
c.3067G>C (p.Val1023Leu)
c.3094G>C (p.Val1032Leu)
c.3091G>C (p.Val1031Leu)
c.3073G>C (p.Val1025Leu)
c.3016G>C (p.Val1006Leu)
c.2950G>C (p.Val984Leu)
c.1516G>C (p.Val506Leu)
c.868G>C (p.Val290Leu)
c.655G>C (p.Val219Leu)
c.2929G>C (p.Val977Leu)
c.3064G>C (p.Val1022Leu)
c.3070G>C (p.Val1024Leu)
c.2986G>C (p.Val996Leu)
c.2971G>C (p.Val991Leu)
c.2914G>C (p.Val972Leu)
c.2848G>C (p.Val950Leu)
c.2209G>C (p.Val737Leu)
c.2827G>C (p.Val943Leu)
9g.137813435G=CA1884685888EHMT1c.3085G= (p.Val1029=)
c.2992G= (p.Val998=)
c.3125G= (n.3125G=)
c.979G= (p.Val327=)
c.1942G= (p.Val648=)
c.772G=
n.611G=
c.3076G= (p.Val1026=)
c.3067G= (p.Val1023=)
c.3094G= (p.Val1032=)
c.3091G= (p.Val1031=)
c.3073G= (p.Val1025=)
c.3016G= (p.Val1006=)
c.2950G= (p.Val984=)
c.1516G= (p.Val506=)
c.868G= (p.Val290=)
c.655G= (p.Val219=)
c.2929G= (p.Val977=)
c.3064G= (p.Val1022=)
c.3070G= (p.Val1024=)
c.2986G= (p.Val996=)
c.2971G= (p.Val991=)
c.2914G= (p.Val972=)
c.2848G= (p.Val950=)
c.2209G= (p.Val737=)
c.2827G= (p.Val943=)
9g.137813435G>TCA375794009EHMT1c.3085G>T (p.Val1029Leu)
c.2992G>T (p.Val998Leu)
c.3125G>T (n.3125G>T)
c.979G>T (p.Val327Leu)
c.1942G>T (p.Val648Leu)
c.772G>T
n.611G>T
c.3076G>T (p.Val1026Leu)
c.3067G>T (p.Val1023Leu)
c.3094G>T (p.Val1032Leu)
c.3091G>T (p.Val1031Leu)
c.3073G>T (p.Val1025Leu)
c.3016G>T (p.Val1006Leu)
c.2950G>T (p.Val984Leu)
c.1516G>T (p.Val506Leu)
c.868G>T (p.Val290Leu)
c.655G>T (p.Val219Leu)
c.2929G>T (p.Val977Leu)
c.3064G>T (p.Val1022Leu)
c.3070G>T (p.Val1024Leu)
c.2986G>T (p.Val996Leu)
c.2971G>T (p.Val991Leu)
c.2914G>T (p.Val972Leu)
c.2848G>T (p.Val950Leu)
c.2209G>T (p.Val737Leu)
c.2827G>T (p.Val943Leu)
 gnomAD v4
9g.137813436T>ACA375794012EHMT1c.3086T>A (p.Val1029Glu)
c.2993T>A (p.Val998Glu)
c.3126T>A (n.3126T>A)
c.980T>A (p.Val327Glu)
c.1943T>A (p.Val648Glu)
c.773T>A
n.612T>A
c.3077T>A (p.Val1026Glu)
c.3068T>A (p.Val1023Glu)
c.3095T>A (p.Val1032Glu)
c.3092T>A (p.Val1031Glu)
c.3074T>A (p.Val1025Glu)
c.3017T>A (p.Val1006Glu)
c.2951T>A (p.Val984Glu)
c.1517T>A (p.Val506Glu)
c.869T>A (p.Val290Glu)
c.656T>A (p.Val219Glu)
c.2930T>A (p.Val977Glu)
c.3065T>A (p.Val1022Glu)
c.3071T>A (p.Val1024Glu)
c.2987T>A (p.Val996Glu)
c.2972T>A (p.Val991Glu)
c.2915T>A (p.Val972Glu)
c.2849T>A (p.Val950Glu)
c.2210T>A (p.Val737Glu)
c.2828T>A (p.Val943Glu)
9g.137813436T>CCA375794013EHMT1c.3086T>C (p.Val1029Ala)
c.2993T>C (p.Val998Ala)
c.3126T>C (n.3126T>C)
c.980T>C (p.Val327Ala)
c.1943T>C (p.Val648Ala)
c.773T>C
n.612T>C
c.3077T>C (p.Val1026Ala)
c.3068T>C (p.Val1023Ala)
c.3095T>C (p.Val1032Ala)
c.3092T>C (p.Val1031Ala)
c.3074T>C (p.Val1025Ala)
c.3017T>C (p.Val1006Ala)
c.2951T>C (p.Val984Ala)
c.1517T>C (p.Val506Ala)
c.869T>C (p.Val290Ala)
c.656T>C (p.Val219Ala)
c.2930T>C (p.Val977Ala)
c.3065T>C (p.Val1022Ala)
c.3071T>C (p.Val1024Ala)
c.2987T>C (p.Val996Ala)
c.2972T>C (p.Val991Ala)
c.2915T>C (p.Val972Ala)
c.2849T>C (p.Val950Ala)
c.2210T>C (p.Val737Ala)
c.2828T>C (p.Val943Ala)
9g.137813436T>GCA375794014EHMT1c.3086T>G (p.Val1029Gly)
c.2993T>G (p.Val998Gly)
c.3126T>G (n.3126T>G)
c.980T>G (p.Val327Gly)
c.1943T>G (p.Val648Gly)
c.773T>G
n.612T>G
c.3077T>G (p.Val1026Gly)
c.3068T>G (p.Val1023Gly)
c.3095T>G (p.Val1032Gly)
c.3092T>G (p.Val1031Gly)
c.3074T>G (p.Val1025Gly)
c.3017T>G (p.Val1006Gly)
c.2951T>G (p.Val984Gly)
c.1517T>G (p.Val506Gly)
c.869T>G (p.Val290Gly)
c.656T>G (p.Val219Gly)
c.2930T>G (p.Val977Gly)
c.3065T>G (p.Val1022Gly)
c.3071T>G (p.Val1024Gly)
c.2987T>G (p.Val996Gly)
c.2972T>G (p.Val991Gly)
c.2915T>G (p.Val972Gly)
c.2849T>G (p.Val950Gly)
c.2210T>G (p.Val737Gly)
c.2828T>G (p.Val943Gly)
9g.137813437G>ACA152702EHMT1c.3087G>A (p.Val1029=)
c.2994G>A (p.Val998=)
c.3127G>A (n.3127G>A)
c.981G>A (p.Val327=)
c.1944G>A (p.Val648=)
c.774G>A
n.613G>A
c.3078G>A (p.Val1026=)
c.3069G>A (p.Val1023=)
c.3096G>A (p.Val1032=)
c.3093G>A (p.Val1031=)
c.3075G>A (p.Val1025=)
c.3018G>A (p.Val1006=)
c.2952G>A (p.Val984=)
c.1518G>A (p.Val506=)
c.870G>A (p.Val290=)
c.657G>A (p.Val219=)
c.2931G>A (p.Val977=)
c.3066G>A (p.Val1022=)
c.3072G>A (p.Val1024=)
c.2988G>A (p.Val996=)
c.2973G>A (p.Val991=)
c.2916G>A (p.Val972=)
c.2850G>A (p.Val950=)
c.2211G>A (p.Val737=)
c.2829G>A (p.Val943=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813437G>CCA468161427EHMT1c.3087G>C (p.Val1029=)
c.2994G>C (p.Val998=)
c.3127G>C (n.3127G>C)
c.981G>C (p.Val327=)
c.1944G>C (p.Val648=)
c.774G>C
n.613G>C
c.3078G>C (p.Val1026=)
c.3069G>C (p.Val1023=)
c.3096G>C (p.Val1032=)
c.3093G>C (p.Val1031=)
c.3075G>C (p.Val1025=)
c.3018G>C (p.Val1006=)
c.2952G>C (p.Val984=)
c.1518G>C (p.Val506=)
c.870G>C (p.Val290=)
c.657G>C (p.Val219=)
c.2931G>C (p.Val977=)
c.3066G>C (p.Val1022=)
c.3072G>C (p.Val1024=)
c.2988G>C (p.Val996=)
c.2973G>C (p.Val991=)
c.2916G>C (p.Val972=)
c.2850G>C (p.Val950=)
c.2211G>C (p.Val737=)
c.2829G>C (p.Val943=)
 dbSNP
9g.137813437G=CA1884685889EHMT1c.3087G= (p.Val1029=)
c.2994G= (p.Val998=)
c.3127G= (n.3127G=)
c.981G= (p.Val327=)
c.1944G= (p.Val648=)
c.774G=
n.613G=
c.3078G= (p.Val1026=)
c.3069G= (p.Val1023=)
c.3096G= (p.Val1032=)
c.3093G= (p.Val1031=)
c.3075G= (p.Val1025=)
c.3018G= (p.Val1006=)
c.2952G= (p.Val984=)
c.1518G= (p.Val506=)
c.870G= (p.Val290=)
c.657G= (p.Val219=)
c.2931G= (p.Val977=)
c.3066G= (p.Val1022=)
c.3072G= (p.Val1024=)
c.2988G= (p.Val996=)
c.2973G= (p.Val991=)
c.2916G= (p.Val972=)
c.2850G= (p.Val950=)
c.2211G= (p.Val737=)
c.2829G= (p.Val943=)
9g.137813437G>TCA468161426EHMT1c.3087G>T (p.Val1029=)
c.2994G>T (p.Val998=)
c.3127G>T (n.3127G>T)
c.981G>T (p.Val327=)
c.1944G>T (p.Val648=)
c.774G>T
n.613G>T
c.3078G>T (p.Val1026=)
c.3069G>T (p.Val1023=)
c.3096G>T (p.Val1032=)
c.3093G>T (p.Val1031=)
c.3075G>T (p.Val1025=)
c.3018G>T (p.Val1006=)
c.2952G>T (p.Val984=)
c.1518G>T (p.Val506=)
c.870G>T (p.Val290=)
c.657G>T (p.Val219=)
c.2931G>T (p.Val977=)
c.3066G>T (p.Val1022=)
c.3072G>T (p.Val1024=)
c.2988G>T (p.Val996=)
c.2973G>T (p.Val991=)
c.2916G>T (p.Val972=)
c.2850G>T (p.Val950=)
c.2211G>T (p.Val737=)
c.2829G>T (p.Val943=)
 dbSNP
9g.137813438G>ACA375794017EHMT1c.3088G>A (p.Asp1030Asn)
c.2995G>A (p.Asp999Asn)
c.3128G>A (n.3128G>A)
c.982G>A (p.Asp328Asn)
c.1945G>A (p.Asp649Asn)
c.775G>A
n.614G>A
c.3079G>A (p.Asp1027Asn)
c.3070G>A (p.Asp1024Asn)
c.3097G>A (p.Asp1033Asn)
c.3094G>A (p.Asp1032Asn)
c.3076G>A (p.Asp1026Asn)
c.3019G>A (p.Asp1007Asn)
c.2953G>A (p.Asp985Asn)
c.1519G>A (p.Asp507Asn)
c.871G>A (p.Asp291Asn)
c.658G>A (p.Asp220Asn)
c.2932G>A (p.Asp978Asn)
c.3067G>A (p.Asp1023Asn)
c.3073G>A (p.Asp1025Asn)
c.2989G>A (p.Asp997Asn)
c.2974G>A (p.Asp992Asn)
c.2917G>A (p.Asp973Asn)
c.2851G>A (p.Asp951Asn)
c.2212G>A (p.Asp738Asn)
c.2830G>A (p.Asp944Asn)
9g.137813438G>CCA375794015EHMT1c.3088G>C (p.Asp1030His)
c.2995G>C (p.Asp999His)
c.3128G>C (n.3128G>C)
c.982G>C (p.Asp328His)
c.1945G>C (p.Asp649His)
c.775G>C
n.614G>C
c.3079G>C (p.Asp1027His)
c.3070G>C (p.Asp1024His)
c.3097G>C (p.Asp1033His)
c.3094G>C (p.Asp1032His)
c.3076G>C (p.Asp1026His)
c.3019G>C (p.Asp1007His)
c.2953G>C (p.Asp985His)
c.1519G>C (p.Asp507His)
c.871G>C (p.Asp291His)
c.658G>C (p.Asp220His)
c.2932G>C (p.Asp978His)
c.3067G>C (p.Asp1023His)
c.3073G>C (p.Asp1025His)
c.2989G>C (p.Asp997His)
c.2974G>C (p.Asp992His)
c.2917G>C (p.Asp973His)
c.2851G>C (p.Asp951His)
c.2212G>C (p.Asp738His)
c.2830G>C (p.Asp944His)
9g.137813438G>TCA375794016EHMT1c.3088G>T (p.Asp1030Tyr)
c.2995G>T (p.Asp999Tyr)
c.3128G>T (n.3128G>T)
c.982G>T (p.Asp328Tyr)
c.1945G>T (p.Asp649Tyr)
c.775G>T
n.614G>T
c.3079G>T (p.Asp1027Tyr)
c.3070G>T (p.Asp1024Tyr)
c.3097G>T (p.Asp1033Tyr)
c.3094G>T (p.Asp1032Tyr)
c.3076G>T (p.Asp1026Tyr)
c.3019G>T (p.Asp1007Tyr)
c.2953G>T (p.Asp985Tyr)
c.1519G>T (p.Asp507Tyr)
c.871G>T (p.Asp291Tyr)
c.658G>T (p.Asp220Tyr)
c.2932G>T (p.Asp978Tyr)
c.3067G>T (p.Asp1023Tyr)
c.3073G>T (p.Asp1025Tyr)
c.2989G>T (p.Asp997Tyr)
c.2974G>T (p.Asp992Tyr)
c.2917G>T (p.Asp973Tyr)
c.2851G>T (p.Asp951Tyr)
c.2212G>T (p.Asp738Tyr)
c.2830G>T (p.Asp944Tyr)
9g.137813439A>CCA375794018EHMT1c.3089A>C (p.Asp1030Ala)
c.2996A>C (p.Asp999Ala)
c.3129A>C (n.3129A>C)
c.983A>C (p.Asp328Ala)
c.1946A>C (p.Asp649Ala)
c.776A>C
n.615A>C
c.3080A>C (p.Asp1027Ala)
c.3071A>C (p.Asp1024Ala)
c.3098A>C (p.Asp1033Ala)
c.3095A>C (p.Asp1032Ala)
c.3077A>C (p.Asp1026Ala)
c.3020A>C (p.Asp1007Ala)
c.2954A>C (p.Asp985Ala)
c.1520A>C (p.Asp507Ala)
c.872A>C (p.Asp291Ala)
c.659A>C (p.Asp220Ala)
c.2933A>C (p.Asp978Ala)
c.3068A>C (p.Asp1023Ala)
c.3074A>C (p.Asp1025Ala)
c.2990A>C (p.Asp997Ala)
c.2975A>C (p.Asp992Ala)
c.2918A>C (p.Asp973Ala)
c.2852A>C (p.Asp951Ala)
c.2213A>C (p.Asp738Ala)
c.2831A>C (p.Asp944Ala)
9g.137813439A>GCA375794020EHMT1c.3089A>G (p.Asp1030Gly)
c.2996A>G (p.Asp999Gly)
c.3129A>G (n.3129A>G)
c.983A>G (p.Asp328Gly)
c.1946A>G (p.Asp649Gly)
c.776A>G
n.615A>G
c.3080A>G (p.Asp1027Gly)
c.3071A>G (p.Asp1024Gly)
c.3098A>G (p.Asp1033Gly)
c.3095A>G (p.Asp1032Gly)
c.3077A>G (p.Asp1026Gly)
c.3020A>G (p.Asp1007Gly)
c.2954A>G (p.Asp985Gly)
c.1520A>G (p.Asp507Gly)
c.872A>G (p.Asp291Gly)
c.659A>G (p.Asp220Gly)
c.2933A>G (p.Asp978Gly)
c.3068A>G (p.Asp1023Gly)
c.3074A>G (p.Asp1025Gly)
c.2990A>G (p.Asp997Gly)
c.2975A>G (p.Asp992Gly)
c.2918A>G (p.Asp973Gly)
c.2852A>G (p.Asp951Gly)
c.2213A>G (p.Asp738Gly)
c.2831A>G (p.Asp944Gly)
9g.137813439A>TCA375794022EHMT1c.3089A>T (p.Asp1030Val)
c.2996A>T (p.Asp999Val)
c.3129A>T (n.3129A>T)
c.983A>T (p.Asp328Val)
c.1946A>T (p.Asp649Val)
c.776A>T
n.615A>T
c.3080A>T (p.Asp1027Val)
c.3071A>T (p.Asp1024Val)
c.3098A>T (p.Asp1033Val)
c.3095A>T (p.Asp1032Val)
c.3077A>T (p.Asp1026Val)
c.3020A>T (p.Asp1007Val)
c.2954A>T (p.Asp985Val)
c.1520A>T (p.Asp507Val)
c.872A>T (p.Asp291Val)
c.659A>T (p.Asp220Val)
c.2933A>T (p.Asp978Val)
c.3068A>T (p.Asp1023Val)
c.3074A>T (p.Asp1025Val)
c.2990A>T (p.Asp997Val)
c.2975A>T (p.Asp992Val)
c.2918A>T (p.Asp973Val)
c.2852A>T (p.Asp951Val)
c.2213A>T (p.Asp738Val)
c.2831A>T (p.Asp944Val)
9g.137813440C>ACA375794026EHMT1c.3090C>A (p.Asp1030Glu)
c.2997C>A (p.Asp999Glu)
c.3130C>A (n.3130C>A)
c.984C>A (p.Asp328Glu)
c.1947C>A (p.Asp649Glu)
c.777C>A
n.616C>A
c.3081C>A (p.Asp1027Glu)
c.3072C>A (p.Asp1024Glu)
c.3099C>A (p.Asp1033Glu)
c.3096C>A (p.Asp1032Glu)
c.3078C>A (p.Asp1026Glu)
c.3021C>A (p.Asp1007Glu)
c.2955C>A (p.Asp985Glu)
c.1521C>A (p.Asp507Glu)
c.873C>A (p.Asp291Glu)
c.660C>A (p.Asp220Glu)
c.2934C>A (p.Asp978Glu)
c.3069C>A (p.Asp1023Glu)
c.3075C>A (p.Asp1025Glu)
c.2991C>A (p.Asp997Glu)
c.2976C>A (p.Asp992Glu)
c.2919C>A (p.Asp973Glu)
c.2853C>A (p.Asp951Glu)
c.2214C>A (p.Asp738Glu)
c.2832C>A (p.Asp944Glu)
9g.137813440C>GCA375794028EHMT1c.3090C>G (p.Asp1030Glu)
c.2997C>G (p.Asp999Glu)
c.3130C>G (n.3130C>G)
c.984C>G (p.Asp328Glu)
c.1947C>G (p.Asp649Glu)
c.777C>G
n.616C>G
c.3081C>G (p.Asp1027Glu)
c.3072C>G (p.Asp1024Glu)
c.3099C>G (p.Asp1033Glu)
c.3096C>G (p.Asp1032Glu)
c.3078C>G (p.Asp1026Glu)
c.3021C>G (p.Asp1007Glu)
c.2955C>G (p.Asp985Glu)
c.1521C>G (p.Asp507Glu)
c.873C>G (p.Asp291Glu)
c.660C>G (p.Asp220Glu)
c.2934C>G (p.Asp978Glu)
c.3069C>G (p.Asp1023Glu)
c.3075C>G (p.Asp1025Glu)
c.2991C>G (p.Asp997Glu)
c.2976C>G (p.Asp992Glu)
c.2919C>G (p.Asp973Glu)
c.2853C>G (p.Asp951Glu)
c.2214C>G (p.Asp738Glu)
c.2832C>G (p.Asp944Glu)
9g.137813440C>TCA468161428EHMT1c.3090C>T (p.Asp1030=)
c.2997C>T (p.Asp999=)
c.3130C>T (n.3130C>T)
c.984C>T (p.Asp328=)
c.1947C>T (p.Asp649=)
c.777C>T
n.616C>T
c.3081C>T (p.Asp1027=)
c.3072C>T (p.Asp1024=)
c.3099C>T (p.Asp1033=)
c.3096C>T (p.Asp1032=)
c.3078C>T (p.Asp1026=)
c.3021C>T (p.Asp1007=)
c.2955C>T (p.Asp985=)
c.1521C>T (p.Asp507=)
c.873C>T (p.Asp291=)
c.660C>T (p.Asp220=)
c.2934C>T (p.Asp978=)
c.3069C>T (p.Asp1023=)
c.3075C>T (p.Asp1025=)
c.2991C>T (p.Asp997=)
c.2976C>T (p.Asp992=)
c.2919C>T (p.Asp973=)
c.2853C>T (p.Asp951=)
c.2214C>T (p.Asp738=)
c.2832C>T (p.Asp944=)
9g.137813441A>CCA375794038EHMT1c.3091A>C (p.Ser1031Arg)
c.2998A>C (p.Ser1000Arg)
c.3131A>C (n.3131A>C)
c.985A>C (p.Ser329Arg)
c.1948A>C (p.Ser650Arg)
c.778A>C
n.617A>C
c.3082A>C (p.Ser1028Arg)
c.3073A>C (p.Ser1025Arg)
c.3100A>C (p.Ser1034Arg)
c.3097A>C (p.Ser1033Arg)
c.3079A>C (p.Ser1027Arg)
c.3022A>C (p.Ser1008Arg)
c.2956A>C (p.Ser986Arg)
c.1522A>C (p.Ser508Arg)
c.874A>C (p.Ser292Arg)
c.661A>C (p.Ser221Arg)
c.2935A>C (p.Ser979Arg)
c.3070A>C (p.Ser1024Arg)
c.3076A>C (p.Ser1026Arg)
c.2992A>C (p.Ser998Arg)
c.2977A>C (p.Ser993Arg)
c.2920A>C (p.Ser974Arg)
c.2854A>C (p.Ser952Arg)
c.2215A>C (p.Ser739Arg)
c.2833A>C (p.Ser945Arg)
9g.137813441A>GCA375794036EHMT1c.3091A>G (p.Ser1031Gly)
c.2998A>G (p.Ser1000Gly)
c.3131A>G (n.3131A>G)
c.985A>G (p.Ser329Gly)
c.1948A>G (p.Ser650Gly)
c.778A>G
n.617A>G
c.3082A>G (p.Ser1028Gly)
c.3073A>G (p.Ser1025Gly)
c.3100A>G (p.Ser1034Gly)
c.3097A>G (p.Ser1033Gly)
c.3079A>G (p.Ser1027Gly)
c.3022A>G (p.Ser1008Gly)
c.2956A>G (p.Ser986Gly)
c.1522A>G (p.Ser508Gly)
c.874A>G (p.Ser292Gly)
c.661A>G (p.Ser221Gly)
c.2935A>G (p.Ser979Gly)
c.3070A>G (p.Ser1024Gly)
c.3076A>G (p.Ser1026Gly)
c.2992A>G (p.Ser998Gly)
c.2977A>G (p.Ser993Gly)
c.2920A>G (p.Ser974Gly)
c.2854A>G (p.Ser952Gly)
c.2215A>G (p.Ser739Gly)
c.2833A>G (p.Ser945Gly)
9g.137813441A>TCA375794033EHMT1c.3091A>T (p.Ser1031Cys)
c.2998A>T (p.Ser1000Cys)
c.3131A>T (n.3131A>T)
c.985A>T (p.Ser329Cys)
c.1948A>T (p.Ser650Cys)
c.778A>T
n.617A>T
c.3082A>T (p.Ser1028Cys)
c.3073A>T (p.Ser1025Cys)
c.3100A>T (p.Ser1034Cys)
c.3097A>T (p.Ser1033Cys)
c.3079A>T (p.Ser1027Cys)
c.3022A>T (p.Ser1008Cys)
c.2956A>T (p.Ser986Cys)
c.1522A>T (p.Ser508Cys)
c.874A>T (p.Ser292Cys)
c.661A>T (p.Ser221Cys)
c.2935A>T (p.Ser979Cys)
c.3070A>T (p.Ser1024Cys)
c.3076A>T (p.Ser1026Cys)
c.2992A>T (p.Ser998Cys)
c.2977A>T (p.Ser993Cys)
c.2920A>T (p.Ser974Cys)
c.2854A>T (p.Ser952Cys)
c.2215A>T (p.Ser739Cys)
c.2833A>T (p.Ser945Cys)
9g.137813442G>ACA375794041EHMT1c.3092G>A (p.Ser1031Asn)
c.2999G>A (p.Ser1000Asn)
c.3132G>A (n.3132G>A)
c.986G>A (p.Ser329Asn)
c.1949G>A (p.Ser650Asn)
c.779G>A
n.618G>A
c.3083G>A (p.Ser1028Asn)
c.3074G>A (p.Ser1025Asn)
c.3101G>A (p.Ser1034Asn)
c.3098G>A (p.Ser1033Asn)
c.3080G>A (p.Ser1027Asn)
c.3023G>A (p.Ser1008Asn)
c.2957G>A (p.Ser986Asn)
c.1523G>A (p.Ser508Asn)
c.875G>A (p.Ser292Asn)
c.662G>A (p.Ser221Asn)
c.2936G>A (p.Ser979Asn)
c.3071G>A (p.Ser1024Asn)
c.3077G>A (p.Ser1026Asn)
c.2993G>A (p.Ser998Asn)
c.2978G>A (p.Ser993Asn)
c.2921G>A (p.Ser974Asn)
c.2855G>A (p.Ser952Asn)
c.2216G>A (p.Ser739Asn)
c.2834G>A (p.Ser945Asn)
 gnomAD v4
9g.137813442G>CCA375794043EHMT1c.3092G>C (p.Ser1031Thr)
c.2999G>C (p.Ser1000Thr)
c.3132G>C (n.3132G>C)
c.986G>C (p.Ser329Thr)
c.1949G>C (p.Ser650Thr)
c.779G>C
n.618G>C
c.3083G>C (p.Ser1028Thr)
c.3074G>C (p.Ser1025Thr)
c.3101G>C (p.Ser1034Thr)
c.3098G>C (p.Ser1033Thr)
c.3080G>C (p.Ser1027Thr)
c.3023G>C (p.Ser1008Thr)
c.2957G>C (p.Ser986Thr)
c.1523G>C (p.Ser508Thr)
c.875G>C (p.Ser292Thr)
c.662G>C (p.Ser221Thr)
c.2936G>C (p.Ser979Thr)
c.3071G>C (p.Ser1024Thr)
c.3077G>C (p.Ser1026Thr)
c.2993G>C (p.Ser998Thr)
c.2978G>C (p.Ser993Thr)
c.2921G>C (p.Ser974Thr)
c.2855G>C (p.Ser952Thr)
c.2216G>C (p.Ser739Thr)
c.2834G>C (p.Ser945Thr)
9g.137813442G>TCA375794044EHMT1c.3092G>T (p.Ser1031Ile)
c.2999G>T (p.Ser1000Ile)
c.3132G>T (n.3132G>T)
c.986G>T (p.Ser329Ile)
c.1949G>T (p.Ser650Ile)
c.779G>T
n.618G>T
c.3083G>T (p.Ser1028Ile)
c.3074G>T (p.Ser1025Ile)
c.3101G>T (p.Ser1034Ile)
c.3098G>T (p.Ser1033Ile)
c.3080G>T (p.Ser1027Ile)
c.3023G>T (p.Ser1008Ile)
c.2957G>T (p.Ser986Ile)
c.1523G>T (p.Ser508Ile)
c.875G>T (p.Ser292Ile)
c.662G>T (p.Ser221Ile)
c.2936G>T (p.Ser979Ile)
c.3071G>T (p.Ser1024Ile)
c.3077G>T (p.Ser1026Ile)
c.2993G>T (p.Ser998Ile)
c.2978G>T (p.Ser993Ile)
c.2921G>T (p.Ser974Ile)
c.2855G>T (p.Ser952Ile)
c.2216G>T (p.Ser739Ile)
c.2834G>T (p.Ser945Ile)
 COSMIC COSMIC
9g.137813443C>ACA375794047EHMT1c.3093C>A (p.Ser1031Arg)
c.3000C>A (p.Ser1000Arg)
c.3133C>A (n.3133C>A)
c.987C>A (p.Ser329Arg)
c.1950C>A (p.Ser650Arg)
c.780C>A
n.619C>A
c.3084C>A (p.Ser1028Arg)
c.3075C>A (p.Ser1025Arg)
c.3102C>A (p.Ser1034Arg)
c.3099C>A (p.Ser1033Arg)
c.3081C>A (p.Ser1027Arg)
c.3024C>A (p.Ser1008Arg)
c.2958C>A (p.Ser986Arg)
c.1524C>A (p.Ser508Arg)
c.876C>A (p.Ser292Arg)
c.663C>A (p.Ser221Arg)
c.2937C>A (p.Ser979Arg)
c.3072C>A (p.Ser1024Arg)
c.3078C>A (p.Ser1026Arg)
c.2994C>A (p.Ser998Arg)
c.2979C>A (p.Ser993Arg)
c.2922C>A (p.Ser974Arg)
c.2856C>A (p.Ser952Arg)
c.2217C>A (p.Ser739Arg)
c.2835C>A (p.Ser945Arg)
9g.137813443C=CA1884685890EHMT1c.3093C= (p.Ser1031=)
c.3000C= (p.Ser1000=)
c.3133C= (n.3133C=)
c.987C= (p.Ser329=)
c.1950C= (p.Ser650=)
c.780C=
n.619C=
c.3084C= (p.Ser1028=)
c.3075C= (p.Ser1025=)
c.3102C= (p.Ser1034=)
c.3099C= (p.Ser1033=)
c.3081C= (p.Ser1027=)
c.3024C= (p.Ser1008=)
c.2958C= (p.Ser986=)
c.1524C= (p.Ser508=)
c.876C= (p.Ser292=)
c.663C= (p.Ser221=)
c.2937C= (p.Ser979=)
c.3072C= (p.Ser1024=)
c.3078C= (p.Ser1026=)
c.2994C= (p.Ser998=)
c.2979C= (p.Ser993=)
c.2922C= (p.Ser974=)
c.2856C= (p.Ser952=)
c.2217C= (p.Ser739=)
c.2835C= (p.Ser945=)
9g.137813443C>GCA375794050EHMT1c.3093C>G (p.Ser1031Arg)
c.3000C>G (p.Ser1000Arg)
c.3133C>G (n.3133C>G)
c.987C>G (p.Ser329Arg)
c.1950C>G (p.Ser650Arg)
c.780C>G
n.619C>G
c.3084C>G (p.Ser1028Arg)
c.3075C>G (p.Ser1025Arg)
c.3102C>G (p.Ser1034Arg)
c.3099C>G (p.Ser1033Arg)
c.3081C>G (p.Ser1027Arg)
c.3024C>G (p.Ser1008Arg)
c.2958C>G (p.Ser986Arg)
c.1524C>G (p.Ser508Arg)
c.876C>G (p.Ser292Arg)
c.663C>G (p.Ser221Arg)
c.2937C>G (p.Ser979Arg)
c.3072C>G (p.Ser1024Arg)
c.3078C>G (p.Ser1026Arg)
c.2994C>G (p.Ser998Arg)
c.2979C>G (p.Ser993Arg)
c.2922C>G (p.Ser974Arg)
c.2856C>G (p.Ser952Arg)
c.2217C>G (p.Ser739Arg)
c.2835C>G (p.Ser945Arg)
 dbSNP gnomAD v4
9g.137813443C>TCA5375163EHMT1c.3093C>T (p.Ser1031=)
c.3000C>T (p.Ser1000=)
c.3133C>T (n.3133C>T)
c.987C>T (p.Ser329=)
c.1950C>T (p.Ser650=)
c.780C>T
n.619C>T
c.3084C>T (p.Ser1028=)
c.3075C>T (p.Ser1025=)
c.3102C>T (p.Ser1034=)
c.3099C>T (p.Ser1033=)
c.3081C>T (p.Ser1027=)
c.3024C>T (p.Ser1008=)
c.2958C>T (p.Ser986=)
c.1524C>T (p.Ser508=)
c.876C>T (p.Ser292=)
c.663C>T (p.Ser221=)
c.2937C>T (p.Ser979=)
c.3072C>T (p.Ser1024=)
c.3078C>T (p.Ser1026=)
c.2994C>T (p.Ser998=)
c.2979C>T (p.Ser993=)
c.2922C>T (p.Ser974=)
c.2856C>T (p.Ser952=)
c.2217C>T (p.Ser739=)
c.2835C>T (p.Ser945=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813444G>ACA5375164EHMT1c.3094G>A (p.Glu1032Lys)
c.3001G>A (p.Glu1001Lys)
c.3134G>A (n.3134G>A)
c.988G>A (p.Glu330Lys)
c.1951G>A (p.Glu651Lys)
c.781G>A
n.620G>A
c.3085G>A (p.Glu1029Lys)
c.3076G>A (p.Glu1026Lys)
c.3103G>A (p.Glu1035Lys)
c.3100G>A (p.Glu1034Lys)
c.3082G>A (p.Glu1028Lys)
c.3025G>A (p.Glu1009Lys)
c.2959G>A (p.Glu987Lys)
c.1525G>A (p.Glu509Lys)
c.877G>A (p.Glu293Lys)
c.664G>A (p.Glu222Lys)
c.2938G>A (p.Glu980Lys)
c.3073G>A (p.Glu1025Lys)
c.3079G>A (p.Glu1027Lys)
c.2995G>A (p.Glu999Lys)
c.2980G>A (p.Glu994Lys)
c.2923G>A (p.Glu975Lys)
c.2857G>A (p.Glu953Lys)
c.2218G>A (p.Glu740Lys)
c.2836G>A (p.Glu946Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813444G>CCA375794053EHMT1c.3094G>C (p.Glu1032Gln)
c.3001G>C (p.Glu1001Gln)
c.3134G>C (n.3134G>C)
c.988G>C (p.Glu330Gln)
c.1951G>C (p.Glu651Gln)
c.781G>C
n.620G>C
c.3085G>C (p.Glu1029Gln)
c.3076G>C (p.Glu1026Gln)
c.3103G>C (p.Glu1035Gln)
c.3100G>C (p.Glu1034Gln)
c.3082G>C (p.Glu1028Gln)
c.3025G>C (p.Glu1009Gln)
c.2959G>C (p.Glu987Gln)
c.1525G>C (p.Glu509Gln)
c.877G>C (p.Glu293Gln)
c.664G>C (p.Glu222Gln)
c.2938G>C (p.Glu980Gln)
c.3073G>C (p.Glu1025Gln)
c.3079G>C (p.Glu1027Gln)
c.2995G>C (p.Glu999Gln)
c.2980G>C (p.Glu994Gln)
c.2923G>C (p.Glu975Gln)
c.2857G>C (p.Glu953Gln)
c.2218G>C (p.Glu740Gln)
c.2836G>C (p.Glu946Gln)
9g.137813444G=CA1884685891EHMT1c.3094G= (p.Glu1032=)
c.3001G= (p.Glu1001=)
c.3134G= (n.3134G=)
c.988G= (p.Glu330=)
c.1951G= (p.Glu651=)
c.781G=
n.620G=
c.3085G= (p.Glu1029=)
c.3076G= (p.Glu1026=)
c.3103G= (p.Glu1035=)
c.3100G= (p.Glu1034=)
c.3082G= (p.Glu1028=)
c.3025G= (p.Glu1009=)
c.2959G= (p.Glu987=)
c.1525G= (p.Glu509=)
c.877G= (p.Glu293=)
c.664G= (p.Glu222=)
c.2938G= (p.Glu980=)
c.3073G= (p.Glu1025=)
c.3079G= (p.Glu1027=)
c.2995G= (p.Glu999=)
c.2980G= (p.Glu994=)
c.2923G= (p.Glu975=)
c.2857G= (p.Glu953=)
c.2218G= (p.Glu740=)
c.2836G= (p.Glu946=)
9g.137813444G>TCA375794062EHMT1c.3094G>T (p.Glu1032Ter)
c.3001G>T (p.Glu1001Ter)
c.3134G>T (n.3134G>T)
c.988G>T (p.Glu330Ter)
c.1951G>T (p.Glu651Ter)
c.781G>T
n.620G>T
c.3085G>T (p.Glu1029Ter)
c.3076G>T (p.Glu1026Ter)
c.3103G>T (p.Glu1035Ter)
c.3100G>T (p.Glu1034Ter)
c.3082G>T (p.Glu1028Ter)
c.3025G>T (p.Glu1009Ter)
c.2959G>T (p.Glu987Ter)
c.1525G>T (p.Glu509Ter)
c.877G>T (p.Glu293Ter)
c.664G>T (p.Glu222Ter)
c.2938G>T (p.Glu980Ter)
c.3073G>T (p.Glu1025Ter)
c.3079G>T (p.Glu1027Ter)
c.2995G>T (p.Glu999Ter)
c.2980G>T (p.Glu994Ter)
c.2923G>T (p.Glu975Ter)
c.2857G>T (p.Glu953Ter)
c.2218G>T (p.Glu740Ter)
c.2836G>T (p.Glu946Ter)
9g.137813445A>CCA375794065EHMT1c.3095A>C (p.Glu1032Ala)
c.3002A>C (p.Glu1001Ala)
c.3135A>C (n.3135A>C)
c.989A>C (p.Glu330Ala)
c.1952A>C (p.Glu651Ala)
n.621A>C
c.3086A>C (p.Glu1029Ala)
c.3077A>C (p.Glu1026Ala)
c.3104A>C (p.Glu1035Ala)
c.3101A>C (p.Glu1034Ala)
c.3083A>C (p.Glu1028Ala)
c.3026A>C (p.Glu1009Ala)
c.2960A>C (p.Glu987Ala)
c.1526A>C (p.Glu509Ala)
c.878A>C (p.Glu293Ala)
c.665A>C (p.Glu222Ala)
c.2939A>C (p.Glu980Ala)
c.3074A>C (p.Glu1025Ala)
c.3080A>C (p.Glu1027Ala)
c.2996A>C (p.Glu999Ala)
c.2981A>C (p.Glu994Ala)
c.2924A>C (p.Glu975Ala)
c.2858A>C (p.Glu953Ala)
c.2219A>C (p.Glu740Ala)
c.2837A>C (p.Glu946Ala)
9g.137813445A>GCA375794066EHMT1c.3095A>G (p.Glu1032Gly)
c.3002A>G (p.Glu1001Gly)
c.3135A>G (n.3135A>G)
c.989A>G (p.Glu330Gly)
c.1952A>G (p.Glu651Gly)
n.621A>G
c.3086A>G (p.Glu1029Gly)
c.3077A>G (p.Glu1026Gly)
c.3104A>G (p.Glu1035Gly)
c.3101A>G (p.Glu1034Gly)
c.3083A>G (p.Glu1028Gly)
c.3026A>G (p.Glu1009Gly)
c.2960A>G (p.Glu987Gly)
c.1526A>G (p.Glu509Gly)
c.878A>G (p.Glu293Gly)
c.665A>G (p.Glu222Gly)
c.2939A>G (p.Glu980Gly)
c.3074A>G (p.Glu1025Gly)
c.3080A>G (p.Glu1027Gly)
c.2996A>G (p.Glu999Gly)
c.2981A>G (p.Glu994Gly)
c.2924A>G (p.Glu975Gly)
c.2858A>G (p.Glu953Gly)
c.2219A>G (p.Glu740Gly)
c.2837A>G (p.Glu946Gly)
 gnomAD v4
9g.137813445A>TCA375794068EHMT1c.3095A>T (p.Glu1032Val)
c.3002A>T (p.Glu1001Val)
c.3135A>T (n.3135A>T)
c.989A>T (p.Glu330Val)
c.1952A>T (p.Glu651Val)
n.621A>T
c.3086A>T (p.Glu1029Val)
c.3077A>T (p.Glu1026Val)
c.3104A>T (p.Glu1035Val)
c.3101A>T (p.Glu1034Val)
c.3083A>T (p.Glu1028Val)
c.3026A>T (p.Glu1009Val)
c.2960A>T (p.Glu987Val)
c.1526A>T (p.Glu509Val)
c.878A>T (p.Glu293Val)
c.665A>T (p.Glu222Val)
c.2939A>T (p.Glu980Val)
c.3074A>T (p.Glu1025Val)
c.3080A>T (p.Glu1027Val)
c.2996A>T (p.Glu999Val)
c.2981A>T (p.Glu994Val)
c.2924A>T (p.Glu975Val)
c.2858A>T (p.Glu953Val)
c.2219A>T (p.Glu740Val)
c.2837A>T (p.Glu946Val)
9g.137813446G>ACA5375165EHMT1c.3096G>A (p.Glu1032=)
c.3003G>A (p.Glu1001=)
c.3136G>A (n.3136G>A)
c.990G>A (p.Glu330=)
c.1953G>A (p.Glu651=)
n.622G>A
c.3087G>A (p.Glu1029=)
c.3078G>A (p.Glu1026=)
c.3105G>A (p.Glu1035=)
c.3102G>A (p.Glu1034=)
c.3084G>A (p.Glu1028=)
c.3027G>A (p.Glu1009=)
c.2961G>A (p.Glu987=)
c.1527G>A (p.Glu509=)
c.879G>A (p.Glu293=)
c.666G>A (p.Glu222=)
c.2940G>A (p.Glu980=)
c.3075G>A (p.Glu1025=)
c.3081G>A (p.Glu1027=)
c.2997G>A (p.Glu999=)
c.2982G>A (p.Glu994=)
c.2925G>A (p.Glu975=)
c.2859G>A (p.Glu953=)
c.2220G>A (p.Glu740=)
c.2838G>A (p.Glu946=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137813446G>CCA375794072EHMT1c.3096G>C (p.Glu1032Asp)
c.3003G>C (p.Glu1001Asp)
c.3136G>C (n.3136G>C)
c.990G>C (p.Glu330Asp)
c.1953G>C (p.Glu651Asp)
n.622G>C
c.3087G>C (p.Glu1029Asp)
c.3078G>C (p.Glu1026Asp)
c.3105G>C (p.Glu1035Asp)
c.3102G>C (p.Glu1034Asp)
c.3084G>C (p.Glu1028Asp)
c.3027G>C (p.Glu1009Asp)
c.2961G>C (p.Glu987Asp)
c.1527G>C (p.Glu509Asp)
c.879G>C (p.Glu293Asp)
c.666G>C (p.Glu222Asp)
c.2940G>C (p.Glu980Asp)
c.3075G>C (p.Glu1025Asp)
c.3081G>C (p.Glu1027Asp)
c.2997G>C (p.Glu999Asp)
c.2982G>C (p.Glu994Asp)
c.2925G>C (p.Glu975Asp)
c.2859G>C (p.Glu953Asp)
c.2220G>C (p.Glu740Asp)
c.2838G>C (p.Glu946Asp)
9g.137813446G=CA1884685892EHMT1c.3096G= (p.Glu1032=)
c.3003G= (p.Glu1001=)
c.3136G= (n.3136G=)
c.990G= (p.Glu330=)
c.1953G= (p.Glu651=)
n.622G=
c.3087G= (p.Glu1029=)
c.3078G= (p.Glu1026=)
c.3105G= (p.Glu1035=)
c.3102G= (p.Glu1034=)
c.3084G= (p.Glu1028=)
c.3027G= (p.Glu1009=)
c.2961G= (p.Glu987=)
c.1527G= (p.Glu509=)
c.879G= (p.Glu293=)
c.666G= (p.Glu222=)
c.2940G= (p.Glu980=)
c.3075G= (p.Glu1025=)
c.3081G= (p.Glu1027=)
c.2997G= (p.Glu999=)
c.2982G= (p.Glu994=)
c.2925G= (p.Glu975=)
c.2859G= (p.Glu953=)
c.2220G= (p.Glu740=)
c.2838G= (p.Glu946=)
9g.137813446G>TCA375794075EHMT1c.3096G>T (p.Glu1032Asp)
c.3003G>T (p.Glu1001Asp)
c.3136G>T (n.3136G>T)
c.990G>T (p.Glu330Asp)
c.1953G>T (p.Glu651Asp)
n.622G>T
c.3087G>T (p.Glu1029Asp)
c.3078G>T (p.Glu1026Asp)
c.3105G>T (p.Glu1035Asp)
c.3102G>T (p.Glu1034Asp)
c.3084G>T (p.Glu1028Asp)
c.3027G>T (p.Glu1009Asp)
c.2961G>T (p.Glu987Asp)
c.1527G>T (p.Glu509Asp)
c.879G>T (p.Glu293Asp)
c.666G>T (p.Glu222Asp)
c.2940G>T (p.Glu980Asp)
c.3075G>T (p.Glu1025Asp)
c.3081G>T (p.Glu1027Asp)
c.2997G>T (p.Glu999Asp)
c.2982G>T (p.Glu994Asp)
c.2925G>T (p.Glu975Asp)
c.2859G>T (p.Glu953Asp)
c.2220G>T (p.Glu740Asp)
c.2838G>T (p.Glu946Asp)
 dbSNP COSMIC COSMIC
9g.137813447C>ACA375794078EHMT1c.3097C>A (p.Pro1033Thr)
c.3004C>A (p.Pro1002Thr)
c.3137C>A (n.3137C>A)
c.991C>A (p.Pro331Thr)
c.1954C>A (p.Pro652Thr)
n.623C>A
c.3088C>A (p.Pro1030Thr)
c.3079C>A (p.Pro1027Thr)
c.3106C>A (p.Pro1036Thr)
c.3103C>A (p.Pro1035Thr)
c.3085C>A (p.Pro1029Thr)
c.3028C>A (p.Pro1010Thr)
c.2962C>A (p.Pro988Thr)
c.1528C>A (p.Pro510Thr)
c.880C>A (p.Pro294Thr)
c.667C>A (p.Pro223Thr)
c.2941C>A (p.Pro981Thr)
c.3076C>A (p.Pro1026Thr)
c.3082C>A (p.Pro1028Thr)
c.2998C>A (p.Pro1000Thr)
c.2983C>A (p.Pro995Thr)
c.2926C>A (p.Pro976Thr)
c.2860C>A (p.Pro954Thr)
c.2221C>A (p.Pro741Thr)
c.2839C>A (p.Pro947Thr)
9g.137813447C>GCA375794080EHMT1c.3097C>G (p.Pro1033Ala)
c.3004C>G (p.Pro1002Ala)
c.3137C>G (n.3137C>G)
c.991C>G (p.Pro331Ala)
c.1954C>G (p.Pro652Ala)
n.623C>G
c.3088C>G (p.Pro1030Ala)
c.3079C>G (p.Pro1027Ala)
c.3106C>G (p.Pro1036Ala)
c.3103C>G (p.Pro1035Ala)
c.3085C>G (p.Pro1029Ala)
c.3028C>G (p.Pro1010Ala)
c.2962C>G (p.Pro988Ala)
c.1528C>G (p.Pro510Ala)
c.880C>G (p.Pro294Ala)
c.667C>G (p.Pro223Ala)
c.2941C>G (p.Pro981Ala)
c.3076C>G (p.Pro1026Ala)
c.3082C>G (p.Pro1028Ala)
c.2998C>G (p.Pro1000Ala)
c.2983C>G (p.Pro995Ala)
c.2926C>G (p.Pro976Ala)
c.2860C>G (p.Pro954Ala)
c.2221C>G (p.Pro741Ala)
c.2839C>G (p.Pro947Ala)
9g.137813447C>TCA375794082EHMT1c.3097C>T (p.Pro1033Ser)
c.3004C>T (p.Pro1002Ser)
c.3137C>T (n.3137C>T)
c.991C>T (p.Pro331Ser)
c.1954C>T (p.Pro652Ser)
n.623C>T
c.3088C>T (p.Pro1030Ser)
c.3079C>T (p.Pro1027Ser)
c.3106C>T (p.Pro1036Ser)
c.3103C>T (p.Pro1035Ser)
c.3085C>T (p.Pro1029Ser)
c.3028C>T (p.Pro1010Ser)
c.2962C>T (p.Pro988Ser)
c.1528C>T (p.Pro510Ser)
c.880C>T (p.Pro294Ser)
c.667C>T (p.Pro223Ser)
c.2941C>T (p.Pro981Ser)
c.3076C>T (p.Pro1026Ser)
c.3082C>T (p.Pro1028Ser)
c.2998C>T (p.Pro1000Ser)
c.2983C>T (p.Pro995Ser)
c.2926C>T (p.Pro976Ser)
c.2860C>T (p.Pro954Ser)
c.2221C>T (p.Pro741Ser)
c.2839C>T (p.Pro947Ser)
9g.137813448C>ACA375794083EHMT1c.3098C>A (p.Pro1033Gln)
c.3005C>A (p.Pro1002Gln)
c.3138C>A (n.3138C>A)
c.992C>A (p.Pro331Gln)
c.1955C>A (p.Pro652Gln)
n.624C>A
c.3089C>A (p.Pro1030Gln)
c.3080C>A (p.Pro1027Gln)
c.3107C>A (p.Pro1036Gln)
c.3104C>A (p.Pro1035Gln)
c.3086C>A (p.Pro1029Gln)
c.3029C>A (p.Pro1010Gln)
c.2963C>A (p.Pro988Gln)
c.1529C>A (p.Pro510Gln)
c.881C>A (p.Pro294Gln)
c.668C>A (p.Pro223Gln)
c.2942C>A (p.Pro981Gln)
c.3077C>A (p.Pro1026Gln)
c.3083C>A (p.Pro1028Gln)
c.2999C>A (p.Pro1000Gln)
c.2984C>A (p.Pro995Gln)
c.2927C>A (p.Pro976Gln)
c.2861C>A (p.Pro954Gln)
c.2222C>A (p.Pro741Gln)
c.2840C>A (p.Pro947Gln)
9g.137813448C>GCA375794084EHMT1c.3098C>G (p.Pro1033Arg)
c.3005C>G (p.Pro1002Arg)
c.3138C>G (n.3138C>G)
c.992C>G (p.Pro331Arg)
c.1955C>G (p.Pro652Arg)
n.624C>G
c.3089C>G (p.Pro1030Arg)
c.3080C>G (p.Pro1027Arg)
c.3107C>G (p.Pro1036Arg)
c.3104C>G (p.Pro1035Arg)
c.3086C>G (p.Pro1029Arg)
c.3029C>G (p.Pro1010Arg)
c.2963C>G (p.Pro988Arg)
c.1529C>G (p.Pro510Arg)
c.881C>G (p.Pro294Arg)
c.668C>G (p.Pro223Arg)
c.2942C>G (p.Pro981Arg)
c.3077C>G (p.Pro1026Arg)
c.3083C>G (p.Pro1028Arg)
c.2999C>G (p.Pro1000Arg)
c.2984C>G (p.Pro995Arg)
c.2927C>G (p.Pro976Arg)
c.2861C>G (p.Pro954Arg)
c.2222C>G (p.Pro741Arg)
c.2840C>G (p.Pro947Arg)
9g.137813448C>TCA375794086EHMT1c.3098C>T (p.Pro1033Leu)
c.3005C>T (p.Pro1002Leu)
c.3138C>T (n.3138C>T)
c.992C>T (p.Pro331Leu)
c.1955C>T (p.Pro652Leu)
n.624C>T
c.3089C>T (p.Pro1030Leu)
c.3080C>T (p.Pro1027Leu)
c.3107C>T (p.Pro1036Leu)
c.3104C>T (p.Pro1035Leu)
c.3086C>T (p.Pro1029Leu)
c.3029C>T (p.Pro1010Leu)
c.2963C>T (p.Pro988Leu)
c.1529C>T (p.Pro510Leu)
c.881C>T (p.Pro294Leu)
c.668C>T (p.Pro223Leu)
c.2942C>T (p.Pro981Leu)
c.3077C>T (p.Pro1026Leu)
c.3083C>T (p.Pro1028Leu)
c.2999C>T (p.Pro1000Leu)
c.2984C>T (p.Pro995Leu)
c.2927C>T (p.Pro976Leu)
c.2861C>T (p.Pro954Leu)
c.2222C>T (p.Pro741Leu)
c.2840C>T (p.Pro947Leu)
9g.137813449A>CCA468161429EHMT1c.3099A>C (p.Pro1033=)
c.3006A>C (p.Pro1002=)
c.3139A>C (n.3139A>C)
c.993A>C (p.Pro331=)
c.1956A>C (p.Pro652=)
n.625A>C
c.3090A>C (p.Pro1030=)
c.3081A>C (p.Pro1027=)
c.3108A>C (p.Pro1036=)
c.3105A>C (p.Pro1035=)
c.3087A>C (p.Pro1029=)
c.3030A>C (p.Pro1010=)
c.2964A>C (p.Pro988=)
c.1530A>C (p.Pro510=)
c.882A>C (p.Pro294=)
c.669A>C (p.Pro223=)
c.2943A>C (p.Pro981=)
c.3078A>C (p.Pro1026=)
c.3084A>C (p.Pro1028=)
c.3000A>C (p.Pro1000=)
c.2985A>C (p.Pro995=)
c.2928A>C (p.Pro976=)
c.2862A>C (p.Pro954=)
c.2223A>C (p.Pro741=)
c.2841A>C (p.Pro947=)
9g.137813449A>GCA468161430EHMT1c.3099A>G (p.Pro1033=)
c.3006A>G (p.Pro1002=)
c.3139A>G (n.3139A>G)
c.993A>G (p.Pro331=)
c.1956A>G (p.Pro652=)
n.625A>G
c.3090A>G (p.Pro1030=)
c.3081A>G (p.Pro1027=)
c.3108A>G (p.Pro1036=)
c.3105A>G (p.Pro1035=)
c.3087A>G (p.Pro1029=)
c.3030A>G (p.Pro1010=)
c.2964A>G (p.Pro988=)
c.1530A>G (p.Pro510=)
c.882A>G (p.Pro294=)
c.669A>G (p.Pro223=)
c.2943A>G (p.Pro981=)
c.3078A>G (p.Pro1026=)
c.3084A>G (p.Pro1028=)
c.3000A>G (p.Pro1000=)
c.2985A>G (p.Pro995=)
c.2928A>G (p.Pro976=)
c.2862A>G (p.Pro954=)
c.2223A>G (p.Pro741=)
c.2841A>G (p.Pro947=)
 dbSNP
9g.137813449A>TCA468161431EHMT1c.3099A>T (p.Pro1033=)
c.3006A>T (p.Pro1002=)
c.3139A>T (n.3139A>T)
c.993A>T (p.Pro331=)
c.1956A>T (p.Pro652=)
n.625A>T
c.3090A>T (p.Pro1030=)
c.3081A>T (p.Pro1027=)
c.3108A>T (p.Pro1036=)
c.3105A>T (p.Pro1035=)
c.3087A>T (p.Pro1029=)
c.3030A>T (p.Pro1010=)
c.2964A>T (p.Pro988=)
c.1530A>T (p.Pro510=)
c.882A>T (p.Pro294=)
c.669A>T (p.Pro223=)
c.2943A>T (p.Pro981=)
c.3078A>T (p.Pro1026=)
c.3084A>T (p.Pro1028=)
c.3000A>T (p.Pro1000=)
c.2985A>T (p.Pro995=)
c.2928A>T (p.Pro976=)
c.2862A>T (p.Pro954=)
c.2223A>T (p.Pro741=)
c.2841A>T (p.Pro947=)
9g.137813450T>ACA375794092EHMT1c.3100T>A (p.Cys1034Ser)
c.3007T>A (p.Cys1003Ser)
c.3140T>A (n.3140T>A)
c.994T>A (p.Cys332Ser)
c.1957T>A (p.Cys653Ser)
n.626T>A
c.3091T>A (p.Cys1031Ser)
c.3082T>A (p.Cys1028Ser)
c.3109T>A (p.Cys1037Ser)
c.3106T>A (p.Cys1036Ser)
c.3088T>A (p.Cys1030Ser)
c.3031T>A (p.Cys1011Ser)
c.2965T>A (p.Cys989Ser)
c.1531T>A (p.Cys511Ser)
c.883T>A (p.Cys295Ser)
c.670T>A (p.Cys224Ser)
c.2944T>A (p.Cys982Ser)
c.3079T>A (p.Cys1027Ser)
c.3085T>A (p.Cys1029Ser)
c.3001T>A (p.Cys1001Ser)
c.2986T>A (p.Cys996Ser)
c.2929T>A (p.Cys977Ser)
c.2863T>A (p.Cys955Ser)
c.2224T>A (p.Cys742Ser)
c.2842T>A (p.Cys948Ser)
9g.137813450T>CCA375794089EHMT1c.3100T>C (p.Cys1034Arg)
c.3007T>C (p.Cys1003Arg)
c.3140T>C (n.3140T>C)
c.994T>C (p.Cys332Arg)
c.1957T>C (p.Cys653Arg)
n.626T>C
c.3091T>C (p.Cys1031Arg)
c.3082T>C (p.Cys1028Arg)
c.3109T>C (p.Cys1037Arg)
c.3106T>C (p.Cys1036Arg)
c.3088T>C (p.Cys1030Arg)
c.3031T>C (p.Cys1011Arg)
c.2965T>C (p.Cys989Arg)
c.1531T>C (p.Cys511Arg)
c.883T>C (p.Cys295Arg)
c.670T>C (p.Cys224Arg)
c.2944T>C (p.Cys982Arg)
c.3079T>C (p.Cys1027Arg)
c.3085T>C (p.Cys1029Arg)
c.3001T>C (p.Cys1001Arg)
c.2986T>C (p.Cys996Arg)
c.2929T>C (p.Cys977Arg)
c.2863T>C (p.Cys955Arg)
c.2224T>C (p.Cys742Arg)
c.2842T>C (p.Cys948Arg)
 dbSNP
9g.137813450T>GCA375794091EHMT1c.3100T>G (p.Cys1034Gly)
c.3007T>G (p.Cys1003Gly)
c.3140T>G (n.3140T>G)
c.994T>G (p.Cys332Gly)
c.1957T>G (p.Cys653Gly)
n.626T>G
c.3091T>G (p.Cys1031Gly)
c.3082T>G (p.Cys1028Gly)
c.3109T>G (p.Cys1037Gly)
c.3106T>G (p.Cys1036Gly)
c.3088T>G (p.Cys1030Gly)
c.3031T>G (p.Cys1011Gly)
c.2965T>G (p.Cys989Gly)
c.1531T>G (p.Cys511Gly)
c.883T>G (p.Cys295Gly)
c.670T>G (p.Cys224Gly)
c.2944T>G (p.Cys982Gly)
c.3079T>G (p.Cys1027Gly)
c.3085T>G (p.Cys1029Gly)
c.3001T>G (p.Cys1001Gly)
c.2986T>G (p.Cys996Gly)
c.2929T>G (p.Cys977Gly)
c.2863T>G (p.Cys955Gly)
c.2224T>G (p.Cys742Gly)
c.2842T>G (p.Cys948Gly)
9g.137813450T=CA1884685893EHMT1c.3100T= (p.Cys1034=)
c.3007T= (p.Cys1003=)
c.3140T= (n.3140T=)
c.994T= (p.Cys332=)
c.1957T= (p.Cys653=)
n.626T=
c.3091T= (p.Cys1031=)
c.3082T= (p.Cys1028=)
c.3109T= (p.Cys1037=)
c.3106T= (p.Cys1036=)
c.3088T= (p.Cys1030=)
c.3031T= (p.Cys1011=)
c.2965T= (p.Cys989=)
c.1531T= (p.Cys511=)
c.883T= (p.Cys295=)
c.670T= (p.Cys224=)
c.2944T= (p.Cys982=)
c.3079T= (p.Cys1027=)
c.3085T= (p.Cys1029=)
c.3001T= (p.Cys1001=)
c.2986T= (p.Cys996=)
c.2929T= (p.Cys977=)
c.2863T= (p.Cys955=)
c.2224T= (p.Cys742=)
c.2842T= (p.Cys948=)
9g.137813451G>ACA375794094EHMT1c.3101G>A (p.Cys1034Tyr)
c.3008G>A (p.Cys1003Tyr)
c.3141G>A (n.3141G>A)
c.995G>A (p.Cys332Tyr)
c.1958G>A (p.Cys653Tyr)
n.627G>A
c.3092G>A (p.Cys1031Tyr)
c.3083G>A (p.Cys1028Tyr)
c.3110G>A (p.Cys1037Tyr)
c.3107G>A (p.Cys1036Tyr)
c.3089G>A (p.Cys1030Tyr)
c.3032G>A (p.Cys1011Tyr)
c.2966G>A (p.Cys989Tyr)
c.1532G>A (p.Cys511Tyr)
c.884G>A (p.Cys295Tyr)
c.671G>A (p.Cys224Tyr)
c.2945G>A (p.Cys982Tyr)
c.3080G>A (p.Cys1027Tyr)
c.3086G>A (p.Cys1029Tyr)
c.3002G>A (p.Cys1001Tyr)
c.2987G>A (p.Cys996Tyr)
c.2930G>A (p.Cys977Tyr)
c.2864G>A (p.Cys955Tyr)
c.2225G>A (p.Cys742Tyr)
c.2843G>A (p.Cys948Tyr)
9g.137813451G>CCA375794100EHMT1c.3101G>C (p.Cys1034Ser)
c.3008G>C (p.Cys1003Ser)
c.3141G>C (n.3141G>C)
c.995G>C (p.Cys332Ser)
c.1958G>C (p.Cys653Ser)
n.627G>C
c.3092G>C (p.Cys1031Ser)
c.3083G>C (p.Cys1028Ser)
c.3110G>C (p.Cys1037Ser)
c.3107G>C (p.Cys1036Ser)
c.3089G>C (p.Cys1030Ser)
c.3032G>C (p.Cys1011Ser)
c.2966G>C (p.Cys989Ser)
c.1532G>C (p.Cys511Ser)
c.884G>C (p.Cys295Ser)
c.671G>C (p.Cys224Ser)
c.2945G>C (p.Cys982Ser)
c.3080G>C (p.Cys1027Ser)
c.3086G>C (p.Cys1029Ser)
c.3002G>C (p.Cys1001Ser)
c.2987G>C (p.Cys996Ser)
c.2930G>C (p.Cys977Ser)
c.2864G>C (p.Cys955Ser)
c.2225G>C (p.Cys742Ser)
c.2843G>C (p.Cys948Ser)
9g.137813451G>TCA375794097EHMT1c.3101G>T (p.Cys1034Phe)
c.3008G>T (p.Cys1003Phe)
c.3141G>T (n.3141G>T)
c.995G>T (p.Cys332Phe)
c.1958G>T (p.Cys653Phe)
n.627G>T
c.3092G>T (p.Cys1031Phe)
c.3083G>T (p.Cys1028Phe)
c.3110G>T (p.Cys1037Phe)
c.3107G>T (p.Cys1036Phe)
c.3089G>T (p.Cys1030Phe)
c.3032G>T (p.Cys1011Phe)
c.2966G>T (p.Cys989Phe)
c.1532G>T (p.Cys511Phe)
c.884G>T (p.Cys295Phe)
c.671G>T (p.Cys224Phe)
c.2945G>T (p.Cys982Phe)
c.3080G>T (p.Cys1027Phe)
c.3086G>T (p.Cys1029Phe)
c.3002G>T (p.Cys1001Phe)
c.2987G>T (p.Cys996Phe)
c.2930G>T (p.Cys977Phe)
c.2864G>T (p.Cys955Phe)
c.2225G>T (p.Cys742Phe)
c.2843G>T (p.Cys948Phe)
 ClinVar
9g.137813452C>ACA375794102EHMT1c.3102C>A (p.Cys1034Ter)
c.3009C>A (p.Cys1003Ter)
c.3142C>A (n.3142C>A)
c.996C>A (p.Cys332Ter)
c.1959C>A (p.Cys653Ter)
n.628C>A
c.3093C>A (p.Cys1031Ter)
c.3084C>A (p.Cys1028Ter)
c.3111C>A (p.Cys1037Ter)
c.3108C>A (p.Cys1036Ter)
c.3090C>A (p.Cys1030Ter)
c.3033C>A (p.Cys1011Ter)
c.2967C>A (p.Cys989Ter)
c.1533C>A (p.Cys511Ter)
c.885C>A (p.Cys295Ter)
c.672C>A (p.Cys224Ter)
c.2946C>A (p.Cys982Ter)
c.3081C>A (p.Cys1027Ter)
c.3087C>A (p.Cys1029Ter)
c.3003C>A (p.Cys1001Ter)
c.2988C>A (p.Cys996Ter)
c.2931C>A (p.Cys977Ter)
c.2865C>A (p.Cys955Ter)
c.2226C>A (p.Cys742Ter)
c.2844C>A (p.Cys948Ter)
9g.137813452C=CA1884685894EHMT1c.3102C= (p.Cys1034=)
c.3009C= (p.Cys1003=)
c.3142C= (n.3142C=)
c.996C= (p.Cys332=)
c.1959C= (p.Cys653=)
n.628C=
c.3093C= (p.Cys1031=)
c.3084C= (p.Cys1028=)
c.3111C= (p.Cys1037=)
c.3108C= (p.Cys1036=)
c.3090C= (p.Cys1030=)
c.3033C= (p.Cys1011=)
c.2967C= (p.Cys989=)
c.1533C= (p.Cys511=)
c.885C= (p.Cys295=)
c.672C= (p.Cys224=)
c.2946C= (p.Cys982=)
c.3081C= (p.Cys1027=)
c.3087C= (p.Cys1029=)
c.3003C= (p.Cys1001=)
c.2988C= (p.Cys996=)
c.2931C= (p.Cys977=)
c.2865C= (p.Cys955=)
c.2226C= (p.Cys742=)
c.2844C= (p.Cys948=)
9g.137813452C>GCA375794104EHMT1c.3102C>G (p.Cys1034Trp)
c.3009C>G (p.Cys1003Trp)
c.3142C>G (n.3142C>G)
c.996C>G (p.Cys332Trp)
c.1959C>G (p.Cys653Trp)
n.628C>G
c.3093C>G (p.Cys1031Trp)
c.3084C>G (p.Cys1028Trp)
c.3111C>G (p.Cys1037Trp)
c.3108C>G (p.Cys1036Trp)
c.3090C>G (p.Cys1030Trp)
c.3033C>G (p.Cys1011Trp)
c.2967C>G (p.Cys989Trp)
c.1533C>G (p.Cys511Trp)
c.885C>G (p.Cys295Trp)
c.672C>G (p.Cys224Trp)
c.2946C>G (p.Cys982Trp)
c.3081C>G (p.Cys1027Trp)
c.3087C>G (p.Cys1029Trp)
c.3003C>G (p.Cys1001Trp)
c.2988C>G (p.Cys996Trp)
c.2931C>G (p.Cys977Trp)
c.2865C>G (p.Cys955Trp)
c.2226C>G (p.Cys742Trp)
c.2844C>G (p.Cys948Trp)
9g.137813452C>TCA468161432EHMT1c.3102C>T (p.Cys1034=)
c.3009C>T (p.Cys1003=)
c.3142C>T (n.3142C>T)
c.996C>T (p.Cys332=)
c.1959C>T (p.Cys653=)
n.628C>T
c.3093C>T (p.Cys1031=)
c.3084C>T (p.Cys1028=)
c.3111C>T (p.Cys1037=)
c.3108C>T (p.Cys1036=)
c.3090C>T (p.Cys1030=)
c.3033C>T (p.Cys1011=)
c.2967C>T (p.Cys989=)
c.1533C>T (p.Cys511=)
c.885C>T (p.Cys295=)
c.672C>T (p.Cys224=)
c.2946C>T (p.Cys982=)
c.3081C>T (p.Cys1027=)
c.3087C>T (p.Cys1029=)
c.3003C>T (p.Cys1001=)
c.2988C>T (p.Cys996=)
c.2931C>T (p.Cys977=)
c.2865C>T (p.Cys955=)
c.2226C>T (p.Cys742=)
c.2844C>T (p.Cys948=)
 ClinVar dbSNP
9g.137813453C>ACA375794108EHMT1c.3103C>A (p.Pro1035Thr)
c.3010C>A (p.Pro1004Thr)
c.3143C>A (n.3143C>A)
c.997C>A (p.Pro333Thr)
c.1960C>A (p.Pro654Thr)
n.629C>A
c.3094C>A (p.Pro1032Thr)
c.3085C>A (p.Pro1029Thr)
c.3112C>A (p.Pro1038Thr)
c.3109C>A (p.Pro1037Thr)
c.3091C>A (p.Pro1031Thr)
c.3034C>A (p.Pro1012Thr)
c.2968C>A (p.Pro990Thr)
c.1534C>A (p.Pro512Thr)
c.886C>A (p.Pro296Thr)
c.673C>A (p.Pro225Thr)
c.2947C>A (p.Pro983Thr)
c.3082C>A (p.Pro1028Thr)
c.3088C>A (p.Pro1030Thr)
c.3004C>A (p.Pro1002Thr)
c.2989C>A (p.Pro997Thr)
c.2932C>A (p.Pro978Thr)
c.2866C>A (p.Pro956Thr)
c.2227C>A (p.Pro743Thr)
c.2845C>A (p.Pro949Thr)
9g.137813453C>GCA375794109EHMT1c.3103C>G (p.Pro1035Ala)
c.3010C>G (p.Pro1004Ala)
c.3143C>G (n.3143C>G)
c.997C>G (p.Pro333Ala)
c.1960C>G (p.Pro654Ala)
n.629C>G
c.3094C>G (p.Pro1032Ala)
c.3085C>G (p.Pro1029Ala)
c.3112C>G (p.Pro1038Ala)
c.3109C>G (p.Pro1037Ala)
c.3091C>G (p.Pro1031Ala)
c.3034C>G (p.Pro1012Ala)
c.2968C>G (p.Pro990Ala)
c.1534C>G (p.Pro512Ala)
c.886C>G (p.Pro296Ala)
c.673C>G (p.Pro225Ala)
c.2947C>G (p.Pro983Ala)
c.3082C>G (p.Pro1028Ala)
c.3088C>G (p.Pro1030Ala)
c.3004C>G (p.Pro1002Ala)
c.2989C>G (p.Pro997Ala)
c.2932C>G (p.Pro978Ala)
c.2866C>G (p.Pro956Ala)
c.2227C>G (p.Pro743Ala)
c.2845C>G (p.Pro949Ala)
9g.137813453C>TCA375794111EHMT1c.3103C>T (p.Pro1035Ser)
c.3010C>T (p.Pro1004Ser)
c.3143C>T (n.3143C>T)
c.997C>T (p.Pro333Ser)
c.1960C>T (p.Pro654Ser)
n.629C>T
c.3094C>T (p.Pro1032Ser)
c.3085C>T (p.Pro1029Ser)
c.3112C>T (p.Pro1038Ser)
c.3109C>T (p.Pro1037Ser)
c.3091C>T (p.Pro1031Ser)
c.3034C>T (p.Pro1012Ser)
c.2968C>T (p.Pro990Ser)
c.1534C>T (p.Pro512Ser)
c.886C>T (p.Pro296Ser)
c.673C>T (p.Pro225Ser)
c.2947C>T (p.Pro983Ser)
c.3082C>T (p.Pro1028Ser)
c.3088C>T (p.Pro1030Ser)
c.3004C>T (p.Pro1002Ser)
c.2989C>T (p.Pro997Ser)
c.2932C>T (p.Pro978Ser)
c.2866C>T (p.Pro956Ser)
c.2227C>T (p.Pro743Ser)
c.2845C>T (p.Pro949Ser)
9g.137813454C>ACA375794115EHMT1c.3104C>A (p.Pro1035His)
c.3011C>A (p.Pro1004His)
c.3144C>A (n.3144C>A)
c.998C>A (p.Pro333His)
c.1961C>A (p.Pro654His)
n.630C>A
c.3095C>A (p.Pro1032His)
c.3086C>A (p.Pro1029His)
c.3113C>A (p.Pro1038His)
c.3110C>A (p.Pro1037His)
c.3092C>A (p.Pro1031His)
c.3035C>A (p.Pro1012His)
c.2969C>A (p.Pro990His)
c.1535C>A (p.Pro512His)
c.887C>A (p.Pro296His)
c.674C>A (p.Pro225His)
c.2948C>A (p.Pro983His)
c.3083C>A (p.Pro1028His)
c.3089C>A (p.Pro1030His)
c.3005C>A (p.Pro1002His)
c.2990C>A (p.Pro997His)
c.2933C>A (p.Pro978His)
c.2867C>A (p.Pro956His)
c.2228C>A (p.Pro743His)
c.2846C>A (p.Pro949His)
9g.137813454C=CA1884685895EHMT1c.3104C= (p.Pro1035=)
c.3011C= (p.Pro1004=)
c.3144C= (n.3144C=)
c.998C= (p.Pro333=)
c.1961C= (p.Pro654=)
n.630C=
c.3095C= (p.Pro1032=)
c.3086C= (p.Pro1029=)
c.3113C= (p.Pro1038=)
c.3110C= (p.Pro1037=)
c.3092C= (p.Pro1031=)
c.3035C= (p.Pro1012=)
c.2969C= (p.Pro990=)
c.1535C= (p.Pro512=)
c.887C= (p.Pro296=)
c.674C= (p.Pro225=)
c.2948C= (p.Pro983=)
c.3083C= (p.Pro1028=)
c.3089C= (p.Pro1030=)
c.3005C= (p.Pro1002=)
c.2990C= (p.Pro997=)
c.2933C= (p.Pro978=)
c.2867C= (p.Pro956=)
c.2228C= (p.Pro743=)
c.2846C= (p.Pro949=)
9g.137813454C>GCA375794116EHMT1c.3104C>G (p.Pro1035Arg)
c.3011C>G (p.Pro1004Arg)
c.3144C>G (n.3144C>G)
c.998C>G (p.Pro333Arg)
c.1961C>G (p.Pro654Arg)
n.630C>G
c.3095C>G (p.Pro1032Arg)
c.3086C>G (p.Pro1029Arg)
c.3113C>G (p.Pro1038Arg)
c.3110C>G (p.Pro1037Arg)
c.3092C>G (p.Pro1031Arg)
c.3035C>G (p.Pro1012Arg)
c.2969C>G (p.Pro990Arg)
c.1535C>G (p.Pro512Arg)
c.887C>G (p.Pro296Arg)
c.674C>G (p.Pro225Arg)
c.2948C>G (p.Pro983Arg)
c.3083C>G (p.Pro1028Arg)
c.3089C>G (p.Pro1030Arg)
c.3005C>G (p.Pro1002Arg)
c.2990C>G (p.Pro997Arg)
c.2933C>G (p.Pro978Arg)
c.2867C>G (p.Pro956Arg)
c.2228C>G (p.Pro743Arg)
c.2846C>G (p.Pro949Arg)
9g.137813454C>TCA375794119EHMT1c.3104C>T (p.Pro1035Leu)
c.3011C>T (p.Pro1004Leu)
c.3144C>T (n.3144C>T)
c.998C>T (p.Pro333Leu)
c.1961C>T (p.Pro654Leu)
n.630C>T
c.3095C>T (p.Pro1032Leu)
c.3086C>T (p.Pro1029Leu)
c.3113C>T (p.Pro1038Leu)
c.3110C>T (p.Pro1037Leu)
c.3092C>T (p.Pro1031Leu)
c.3035C>T (p.Pro1012Leu)
c.2969C>T (p.Pro990Leu)
c.1535C>T (p.Pro512Leu)
c.887C>T (p.Pro296Leu)
c.674C>T (p.Pro225Leu)
c.2948C>T (p.Pro983Leu)
c.3083C>T (p.Pro1028Leu)
c.3089C>T (p.Pro1030Leu)
c.3005C>T (p.Pro1002Leu)
c.2990C>T (p.Pro997Leu)
c.2933C>T (p.Pro978Leu)
c.2867C>T (p.Pro956Leu)
c.2228C>T (p.Pro743Leu)
c.2846C>T (p.Pro949Leu)
 dbSNP
9g.137813455C>ACA468161433EHMT1c.3105C>A (p.Pro1035=)
c.3012C>A (p.Pro1004=)
c.3145C>A (n.3145C>A)
c.999C>A (p.Pro333=)
c.1962C>A (p.Pro654=)
n.631C>A
c.3096C>A (p.Pro1032=)
c.3087C>A (p.Pro1029=)
c.3114C>A (p.Pro1038=)
c.3111C>A (p.Pro1037=)
c.3093C>A (p.Pro1031=)
c.3036C>A (p.Pro1012=)
c.2970C>A (p.Pro990=)
c.1536C>A (p.Pro512=)
c.888C>A (p.Pro296=)
c.675C>A (p.Pro225=)
c.2949C>A (p.Pro983=)
c.3084C>A (p.Pro1028=)
c.3090C>A (p.Pro1030=)
c.3006C>A (p.Pro1002=)
c.2991C>A (p.Pro997=)
c.2934C>A (p.Pro978=)
c.2868C>A (p.Pro956=)
c.2229C>A (p.Pro743=)
c.2847C>A (p.Pro949=)
9g.137813455C=CA1884685896EHMT1c.3105C= (p.Pro1035=)
c.3012C= (p.Pro1004=)
c.3145C= (n.3145C=)
c.999C= (p.Pro333=)
c.1962C= (p.Pro654=)
n.631C=
c.3096C= (p.Pro1032=)
c.3087C= (p.Pro1029=)
c.3114C= (p.Pro1038=)
c.3111C= (p.Pro1037=)
c.3093C= (p.Pro1031=)
c.3036C= (p.Pro1012=)
c.2970C= (p.Pro990=)
c.1536C= (p.Pro512=)
c.888C= (p.Pro296=)
c.675C= (p.Pro225=)
c.2949C= (p.Pro983=)
c.3084C= (p.Pro1028=)
c.3090C= (p.Pro1030=)
c.3006C= (p.Pro1002=)
c.2991C= (p.Pro997=)
c.2934C= (p.Pro978=)
c.2868C= (p.Pro956=)
c.2229C= (p.Pro743=)
c.2847C= (p.Pro949=)
9g.137813455C>GCA468161434EHMT1c.3105C>G (p.Pro1035=)
c.3012C>G (p.Pro1004=)
c.3145C>G (n.3145C>G)
c.999C>G (p.Pro333=)
c.1962C>G (p.Pro654=)
n.631C>G
c.3096C>G (p.Pro1032=)
c.3087C>G (p.Pro1029=)
c.3114C>G (p.Pro1038=)
c.3111C>G (p.Pro1037=)
c.3093C>G (p.Pro1031=)
c.3036C>G (p.Pro1012=)
c.2970C>G (p.Pro990=)
c.1536C>G (p.Pro512=)
c.888C>G (p.Pro296=)
c.675C>G (p.Pro225=)
c.2949C>G (p.Pro983=)
c.3084C>G (p.Pro1028=)
c.3090C>G (p.Pro1030=)
c.3006C>G (p.Pro1002=)
c.2991C>G (p.Pro997=)
c.2934C>G (p.Pro978=)
c.2868C>G (p.Pro956=)
c.2229C>G (p.Pro743=)
c.2847C>G (p.Pro949=)
9g.137813455C>TCA5375166EHMT1c.3105C>T (p.Pro1035=)
c.3012C>T (p.Pro1004=)
c.3145C>T (n.3145C>T)
c.999C>T (p.Pro333=)
c.1962C>T (p.Pro654=)
n.631C>T
c.3096C>T (p.Pro1032=)
c.3087C>T (p.Pro1029=)
c.3114C>T (p.Pro1038=)
c.3111C>T (p.Pro1037=)
c.3093C>T (p.Pro1031=)
c.3036C>T (p.Pro1012=)
c.2970C>T (p.Pro990=)
c.1536C>T (p.Pro512=)
c.888C>T (p.Pro296=)
c.675C>T (p.Pro225=)
c.2949C>T (p.Pro983=)
c.3084C>T (p.Pro1028=)
c.3090C>T (p.Pro1030=)
c.3006C>T (p.Pro1002=)
c.2991C>T (p.Pro997=)
c.2934C>T (p.Pro978=)
c.2868C>T (p.Pro956=)
c.2229C>T (p.Pro743=)
c.2847C>T (p.Pro949=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813456A=CA1884685897EHMT1c.3106A= (p.Ser1036=)
c.3013A= (p.Ser1005=)
c.3146A= (n.3146A=)
c.1000A= (p.Ser334=)
c.1963A= (p.Ser655=)
n.632A=
c.3097A= (p.Ser1033=)
c.3088A= (p.Ser1030=)
c.3115A= (p.Ser1039=)
c.3112A= (p.Ser1038=)
c.3094A= (p.Ser1032=)
c.3037A= (p.Ser1013=)
c.2971A= (p.Ser991=)
c.1537A= (p.Ser513=)
c.889A= (p.Ser297=)
c.676A= (p.Ser226=)
c.2950A= (p.Ser984=)
c.3085A= (p.Ser1029=)
c.3091A= (p.Ser1031=)
c.3007A= (p.Ser1003=)
c.2992A= (p.Ser998=)
c.2935A= (p.Ser979=)
c.2869A= (p.Ser957=)
c.2230A= (p.Ser744=)
c.2848A= (p.Ser950=)
9g.137813456A>CCA375794143EHMT1c.3106A>C (p.Ser1036Arg)
c.3013A>C (p.Ser1005Arg)
c.3146A>C (n.3146A>C)
c.1000A>C (p.Ser334Arg)
c.1963A>C (p.Ser655Arg)
n.632A>C
c.3097A>C (p.Ser1033Arg)
c.3088A>C (p.Ser1030Arg)
c.3115A>C (p.Ser1039Arg)
c.3112A>C (p.Ser1038Arg)
c.3094A>C (p.Ser1032Arg)
c.3037A>C (p.Ser1013Arg)
c.2971A>C (p.Ser991Arg)
c.1537A>C (p.Ser513Arg)
c.889A>C (p.Ser297Arg)
c.676A>C (p.Ser226Arg)
c.2950A>C (p.Ser984Arg)
c.3085A>C (p.Ser1029Arg)
c.3091A>C (p.Ser1031Arg)
c.3007A>C (p.Ser1003Arg)
c.2992A>C (p.Ser998Arg)
c.2935A>C (p.Ser979Arg)
c.2869A>C (p.Ser957Arg)
c.2230A>C (p.Ser744Arg)
c.2848A>C (p.Ser950Arg)
 dbSNP gnomAD v4
9g.137813456A>GCA375794144EHMT1c.3106A>G (p.Ser1036Gly)
c.3013A>G (p.Ser1005Gly)
c.3146A>G (n.3146A>G)
c.1000A>G (p.Ser334Gly)
c.1963A>G (p.Ser655Gly)
n.632A>G
c.3097A>G (p.Ser1033Gly)
c.3088A>G (p.Ser1030Gly)
c.3115A>G (p.Ser1039Gly)
c.3112A>G (p.Ser1038Gly)
c.3094A>G (p.Ser1032Gly)
c.3037A>G (p.Ser1013Gly)
c.2971A>G (p.Ser991Gly)
c.1537A>G (p.Ser513Gly)
c.889A>G (p.Ser297Gly)
c.676A>G (p.Ser226Gly)
c.2950A>G (p.Ser984Gly)
c.3085A>G (p.Ser1029Gly)
c.3091A>G (p.Ser1031Gly)
c.3007A>G (p.Ser1003Gly)
c.2992A>G (p.Ser998Gly)
c.2935A>G (p.Ser979Gly)
c.2869A>G (p.Ser957Gly)
c.2230A>G (p.Ser744Gly)
c.2848A>G (p.Ser950Gly)
 COSMIC COSMIC
9g.137813456A>TCA375794145EHMT1c.3106A>T (p.Ser1036Cys)
c.3013A>T (p.Ser1005Cys)
c.3146A>T (n.3146A>T)
c.1000A>T (p.Ser334Cys)
c.1963A>T (p.Ser655Cys)
n.632A>T
c.3097A>T (p.Ser1033Cys)
c.3088A>T (p.Ser1030Cys)
c.3115A>T (p.Ser1039Cys)
c.3112A>T (p.Ser1038Cys)
c.3094A>T (p.Ser1032Cys)
c.3037A>T (p.Ser1013Cys)
c.2971A>T (p.Ser991Cys)
c.1537A>T (p.Ser513Cys)
c.889A>T (p.Ser297Cys)
c.676A>T (p.Ser226Cys)
c.2950A>T (p.Ser984Cys)
c.3085A>T (p.Ser1029Cys)
c.3091A>T (p.Ser1031Cys)
c.3007A>T (p.Ser1003Cys)
c.2992A>T (p.Ser998Cys)
c.2935A>T (p.Ser979Cys)
c.2869A>T (p.Ser957Cys)
c.2230A>T (p.Ser744Cys)
c.2848A>T (p.Ser950Cys)
9g.137813457G>ACA375794146EHMT1c.3107G>A (p.Ser1036Asn)
c.3014G>A (p.Ser1005Asn)
c.3147G>A (n.3147G>A)
c.1001G>A (p.Ser334Asn)
c.1964G>A (p.Ser655Asn)
n.633G>A
c.3098G>A (p.Ser1033Asn)
c.3089G>A (p.Ser1030Asn)
c.3116G>A (p.Ser1039Asn)
c.3113G>A (p.Ser1038Asn)
c.3095G>A (p.Ser1032Asn)
c.3038G>A (p.Ser1013Asn)
c.2972G>A (p.Ser991Asn)
c.1538G>A (p.Ser513Asn)
c.890G>A (p.Ser297Asn)
c.677G>A (p.Ser226Asn)
c.2951G>A (p.Ser984Asn)
c.3086G>A (p.Ser1029Asn)
c.3092G>A (p.Ser1031Asn)
c.3008G>A (p.Ser1003Asn)
c.2993G>A (p.Ser998Asn)
c.2936G>A (p.Ser979Asn)
c.2870G>A (p.Ser957Asn)
c.2231G>A (p.Ser744Asn)
c.2849G>A (p.Ser950Asn)
9g.137813457G>CCA375794150EHMT1c.3107G>C (p.Ser1036Thr)
c.3014G>C (p.Ser1005Thr)
c.3147G>C (n.3147G>C)
c.1001G>C (p.Ser334Thr)
c.1964G>C (p.Ser655Thr)
n.633G>C
c.3098G>C (p.Ser1033Thr)
c.3089G>C (p.Ser1030Thr)
c.3116G>C (p.Ser1039Thr)
c.3113G>C (p.Ser1038Thr)
c.3095G>C (p.Ser1032Thr)
c.3038G>C (p.Ser1013Thr)
c.2972G>C (p.Ser991Thr)
c.1538G>C (p.Ser513Thr)
c.890G>C (p.Ser297Thr)
c.677G>C (p.Ser226Thr)
c.2951G>C (p.Ser984Thr)
c.3086G>C (p.Ser1029Thr)
c.3092G>C (p.Ser1031Thr)
c.3008G>C (p.Ser1003Thr)
c.2993G>C (p.Ser998Thr)
c.2936G>C (p.Ser979Thr)
c.2870G>C (p.Ser957Thr)
c.2231G>C (p.Ser744Thr)
c.2849G>C (p.Ser950Thr)
9g.137813457G=CA1884685898EHMT1c.3107G= (p.Ser1036=)
c.3014G= (p.Ser1005=)
c.3147G= (n.3147G=)
c.1001G= (p.Ser334=)
c.1964G= (p.Ser655=)
n.633G=
c.3098G= (p.Ser1033=)
c.3089G= (p.Ser1030=)
c.3116G= (p.Ser1039=)
c.3113G= (p.Ser1038=)
c.3095G= (p.Ser1032=)
c.3038G= (p.Ser1013=)
c.2972G= (p.Ser991=)
c.1538G= (p.Ser513=)
c.890G= (p.Ser297=)
c.677G= (p.Ser226=)
c.2951G= (p.Ser984=)
c.3086G= (p.Ser1029=)
c.3092G= (p.Ser1031=)
c.3008G= (p.Ser1003=)
c.2993G= (p.Ser998=)
c.2936G= (p.Ser979=)
c.2870G= (p.Ser957=)
c.2231G= (p.Ser744=)
c.2849G= (p.Ser950=)
9g.137813457G>TCA5375167EHMT1c.3107G>T (p.Ser1036Ile)
c.3014G>T (p.Ser1005Ile)
c.3147G>T (n.3147G>T)
c.1001G>T (p.Ser334Ile)
c.1964G>T (p.Ser655Ile)
n.633G>T
c.3098G>T (p.Ser1033Ile)
c.3089G>T (p.Ser1030Ile)
c.3116G>T (p.Ser1039Ile)
c.3113G>T (p.Ser1038Ile)
c.3095G>T (p.Ser1032Ile)
c.3038G>T (p.Ser1013Ile)
c.2972G>T (p.Ser991Ile)
c.1538G>T (p.Ser513Ile)
c.890G>T (p.Ser297Ile)
c.677G>T (p.Ser226Ile)
c.2951G>T (p.Ser984Ile)
c.3086G>T (p.Ser1029Ile)
c.3092G>T (p.Ser1031Ile)
c.3008G>T (p.Ser1003Ile)
c.2993G>T (p.Ser998Ile)
c.2936G>T (p.Ser979Ile)
c.2870G>T (p.Ser957Ile)
c.2231G>T (p.Ser744Ile)
c.2849G>T (p.Ser950Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813458C>ACA375794154EHMT1c.3108C>A (p.Ser1036Arg)
c.3015C>A (p.Ser1005Arg)
c.3148C>A (n.3148C>A)
c.1002C>A (p.Ser334Arg)
c.1965C>A (p.Ser655Arg)
n.634C>A
c.3099C>A (p.Ser1033Arg)
c.3090C>A (p.Ser1030Arg)
c.3117C>A (p.Ser1039Arg)
c.3114C>A (p.Ser1038Arg)
c.3096C>A (p.Ser1032Arg)
c.3039C>A (p.Ser1013Arg)
c.2973C>A (p.Ser991Arg)
c.1539C>A (p.Ser513Arg)
c.891C>A (p.Ser297Arg)
c.678C>A (p.Ser226Arg)
c.2952C>A (p.Ser984Arg)
c.3087C>A (p.Ser1029Arg)
c.3093C>A (p.Ser1031Arg)
c.3009C>A (p.Ser1003Arg)
c.2994C>A (p.Ser998Arg)
c.2937C>A (p.Ser979Arg)
c.2871C>A (p.Ser957Arg)
c.2232C>A (p.Ser744Arg)
c.2850C>A (p.Ser950Arg)
9g.137813458C=CA1884685899EHMT1c.3108C= (p.Ser1036=)
c.3015C= (p.Ser1005=)
c.3148C= (n.3148C=)
c.1002C= (p.Ser334=)
c.1965C= (p.Ser655=)
n.634C=
c.3099C= (p.Ser1033=)
c.3090C= (p.Ser1030=)
c.3117C= (p.Ser1039=)
c.3114C= (p.Ser1038=)
c.3096C= (p.Ser1032=)
c.3039C= (p.Ser1013=)
c.2973C= (p.Ser991=)
c.1539C= (p.Ser513=)
c.891C= (p.Ser297=)
c.678C= (p.Ser226=)
c.2952C= (p.Ser984=)
c.3087C= (p.Ser1029=)
c.3093C= (p.Ser1031=)
c.3009C= (p.Ser1003=)
c.2994C= (p.Ser998=)
c.2937C= (p.Ser979=)
c.2871C= (p.Ser957=)
c.2232C= (p.Ser744=)
c.2850C= (p.Ser950=)
9g.137813458C>GCA375794157EHMT1c.3108C>G (p.Ser1036Arg)
c.3015C>G (p.Ser1005Arg)
c.3148C>G (n.3148C>G)
c.1002C>G (p.Ser334Arg)
c.1965C>G (p.Ser655Arg)
n.634C>G
c.3099C>G (p.Ser1033Arg)
c.3090C>G (p.Ser1030Arg)
c.3117C>G (p.Ser1039Arg)
c.3114C>G (p.Ser1038Arg)
c.3096C>G (p.Ser1032Arg)
c.3039C>G (p.Ser1013Arg)
c.2973C>G (p.Ser991Arg)
c.1539C>G (p.Ser513Arg)
c.891C>G (p.Ser297Arg)
c.678C>G (p.Ser226Arg)
c.2952C>G (p.Ser984Arg)
c.3087C>G (p.Ser1029Arg)
c.3093C>G (p.Ser1031Arg)
c.3009C>G (p.Ser1003Arg)
c.2994C>G (p.Ser998Arg)
c.2937C>G (p.Ser979Arg)
c.2871C>G (p.Ser957Arg)
c.2232C>G (p.Ser744Arg)
c.2850C>G (p.Ser950Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.137813458C>TCA468161435EHMT1c.3108C>T (p.Ser1036=)
c.3015C>T (p.Ser1005=)
c.3148C>T (n.3148C>T)
c.1002C>T (p.Ser334=)
c.1965C>T (p.Ser655=)
n.634C>T
c.3099C>T (p.Ser1033=)
c.3090C>T (p.Ser1030=)
c.3117C>T (p.Ser1039=)
c.3114C>T (p.Ser1038=)
c.3096C>T (p.Ser1032=)
c.3039C>T (p.Ser1013=)
c.2973C>T (p.Ser991=)
c.1539C>T (p.Ser513=)
c.891C>T (p.Ser297=)
c.678C>T (p.Ser226=)
c.2952C>T (p.Ser984=)
c.3087C>T (p.Ser1029=)
c.3093C>T (p.Ser1031=)
c.3009C>T (p.Ser1003=)
c.2994C>T (p.Ser998=)
c.2937C>T (p.Ser979=)
c.2871C>T (p.Ser957=)
c.2232C>T (p.Ser744=)
c.2850C>T (p.Ser950=)
9g.137813459A>CCA375794158EHMT1c.3109A>C (p.Asn1037His)
c.3016A>C (p.Asn1006His)
c.3149A>C (n.3149A>C)
c.1003A>C (p.Asn335His)
c.1966A>C (p.Asn656His)
n.635A>C
c.3100A>C (p.Asn1034His)
c.3091A>C (p.Asn1031His)
c.3118A>C (p.Asn1040His)
c.3115A>C (p.Asn1039His)
c.3097A>C (p.Asn1033His)
c.3040A>C (p.Asn1014His)
c.2974A>C (p.Asn992His)
c.1540A>C (p.Asn514His)
c.892A>C (p.Asn298His)
c.679A>C (p.Asn227His)
c.2953A>C (p.Asn985His)
c.3088A>C (p.Asn1030His)
c.3094A>C (p.Asn1032His)
c.3010A>C (p.Asn1004His)
c.2995A>C (p.Asn999His)
c.2938A>C (p.Asn980His)
c.2872A>C (p.Asn958His)
c.2233A>C (p.Asn745His)
c.2851A>C (p.Asn951His)
9g.137813459A>GCA375794161EHMT1c.3109A>G (p.Asn1037Asp)
c.3016A>G (p.Asn1006Asp)
c.3149A>G (n.3149A>G)
c.1003A>G (p.Asn335Asp)
c.1966A>G (p.Asn656Asp)
n.635A>G
c.3100A>G (p.Asn1034Asp)
c.3091A>G (p.Asn1031Asp)
c.3118A>G (p.Asn1040Asp)
c.3115A>G (p.Asn1039Asp)
c.3097A>G (p.Asn1033Asp)
c.3040A>G (p.Asn1014Asp)
c.2974A>G (p.Asn992Asp)
c.1540A>G (p.Asn514Asp)
c.892A>G (p.Asn298Asp)
c.679A>G (p.Asn227Asp)
c.2953A>G (p.Asn985Asp)
c.3088A>G (p.Asn1030Asp)
c.3094A>G (p.Asn1032Asp)
c.3010A>G (p.Asn1004Asp)
c.2995A>G (p.Asn999Asp)
c.2938A>G (p.Asn980Asp)
c.2872A>G (p.Asn958Asp)
c.2233A>G (p.Asn745Asp)
c.2851A>G (p.Asn951Asp)
9g.137813459A>TCA375794163EHMT1c.3109A>T (p.Asn1037Tyr)
c.3016A>T (p.Asn1006Tyr)
c.3149A>T (n.3149A>T)
c.1003A>T (p.Asn335Tyr)
c.1966A>T (p.Asn656Tyr)
n.635A>T
c.3100A>T (p.Asn1034Tyr)
c.3091A>T (p.Asn1031Tyr)
c.3118A>T (p.Asn1040Tyr)
c.3115A>T (p.Asn1039Tyr)
c.3097A>T (p.Asn1033Tyr)
c.3040A>T (p.Asn1014Tyr)
c.2974A>T (p.Asn992Tyr)
c.1540A>T (p.Asn514Tyr)
c.892A>T (p.Asn298Tyr)
c.679A>T (p.Asn227Tyr)
c.2953A>T (p.Asn985Tyr)
c.3088A>T (p.Asn1030Tyr)
c.3094A>T (p.Asn1032Tyr)
c.3010A>T (p.Asn1004Tyr)
c.2995A>T (p.Asn999Tyr)
c.2938A>T (p.Asn980Tyr)
c.2872A>T (p.Asn958Tyr)
c.2233A>T (p.Asn745Tyr)
c.2851A>T (p.Asn951Tyr)
9g.137813460A>CCA375794166EHMT1c.3110A>C (p.Asn1037Thr)
c.3017A>C (p.Asn1006Thr)
c.3150A>C (n.3150A>C)
c.1004A>C (p.Asn335Thr)
c.1967A>C (p.Asn656Thr)
n.636A>C
c.3101A>C (p.Asn1034Thr)
c.3092A>C (p.Asn1031Thr)
c.3119A>C (p.Asn1040Thr)
c.3116A>C (p.Asn1039Thr)
c.3098A>C (p.Asn1033Thr)
c.3041A>C (p.Asn1014Thr)
c.2975A>C (p.Asn992Thr)
c.1541A>C (p.Asn514Thr)
c.893A>C (p.Asn298Thr)
c.680A>C (p.Asn227Thr)
c.2954A>C (p.Asn985Thr)
c.3089A>C (p.Asn1030Thr)
c.3095A>C (p.Asn1032Thr)
c.3011A>C (p.Asn1004Thr)
c.2996A>C (p.Asn999Thr)
c.2939A>C (p.Asn980Thr)
c.2873A>C (p.Asn958Thr)
c.2234A>C (p.Asn745Thr)
c.2852A>C (p.Asn951Thr)
9g.137813460A>GCA375794169EHMT1c.3110A>G (p.Asn1037Ser)
c.3017A>G (p.Asn1006Ser)
c.3150A>G (n.3150A>G)
c.1004A>G (p.Asn335Ser)
c.1967A>G (p.Asn656Ser)
n.636A>G
c.3101A>G (p.Asn1034Ser)
c.3092A>G (p.Asn1031Ser)
c.3119A>G (p.Asn1040Ser)
c.3116A>G (p.Asn1039Ser)
c.3098A>G (p.Asn1033Ser)
c.3041A>G (p.Asn1014Ser)
c.2975A>G (p.Asn992Ser)
c.1541A>G (p.Asn514Ser)
c.893A>G (p.Asn298Ser)
c.680A>G (p.Asn227Ser)
c.2954A>G (p.Asn985Ser)
c.3089A>G (p.Asn1030Ser)
c.3095A>G (p.Asn1032Ser)
c.3011A>G (p.Asn1004Ser)
c.2996A>G (p.Asn999Ser)
c.2939A>G (p.Asn980Ser)
c.2873A>G (p.Asn958Ser)
c.2234A>G (p.Asn745Ser)
c.2852A>G (p.Asn951Ser)
 ClinVar gnomAD v4
9g.137813460A>TCA375794172EHMT1c.3110A>T (p.Asn1037Ile)
c.3017A>T (p.Asn1006Ile)
c.3150A>T (n.3150A>T)
c.1004A>T (p.Asn335Ile)
c.1967A>T (p.Asn656Ile)
n.636A>T
c.3101A>T (p.Asn1034Ile)
c.3092A>T (p.Asn1031Ile)
c.3119A>T (p.Asn1040Ile)
c.3116A>T (p.Asn1039Ile)
c.3098A>T (p.Asn1033Ile)
c.3041A>T (p.Asn1014Ile)
c.2975A>T (p.Asn992Ile)
c.1541A>T (p.Asn514Ile)
c.893A>T (p.Asn298Ile)
c.680A>T (p.Asn227Ile)
c.2954A>T (p.Asn985Ile)
c.3089A>T (p.Asn1030Ile)
c.3095A>T (p.Asn1032Ile)
c.3011A>T (p.Asn1004Ile)
c.2996A>T (p.Asn999Ile)
c.2939A>T (p.Asn980Ile)
c.2873A>T (p.Asn958Ile)
c.2234A>T (p.Asn745Ile)
c.2852A>T (p.Asn951Ile)
9g.137813461C>ACA375794176EHMT1c.3111C>A (p.Asn1037Lys)
c.3018C>A (p.Asn1006Lys)
c.3151C>A (n.3151C>A)
c.1005C>A (p.Asn335Lys)
c.1968C>A (p.Asn656Lys)
n.637C>A
c.3102C>A (p.Asn1034Lys)
c.3093C>A (p.Asn1031Lys)
c.3120C>A (p.Asn1040Lys)
c.3117C>A (p.Asn1039Lys)
c.3099C>A (p.Asn1033Lys)
c.3042C>A (p.Asn1014Lys)
c.2976C>A (p.Asn992Lys)
c.1542C>A (p.Asn514Lys)
c.894C>A (p.Asn298Lys)
c.681C>A (p.Asn227Lys)
c.2955C>A (p.Asn985Lys)
c.3090C>A (p.Asn1030Lys)
c.3096C>A (p.Asn1032Lys)
c.3012C>A (p.Asn1004Lys)
c.2997C>A (p.Asn999Lys)
c.2940C>A (p.Asn980Lys)
c.2874C>A (p.Asn958Lys)
c.2235C>A (p.Asn745Lys)
c.2853C>A (p.Asn951Lys)
9g.137813461C=CA1884685900EHMT1c.3111C= (p.Asn1037=)
c.3018C= (p.Asn1006=)
c.3151C= (n.3151C=)
c.1005C= (p.Asn335=)
c.1968C= (p.Asn656=)
n.637C=
c.3102C= (p.Asn1034=)
c.3093C= (p.Asn1031=)
c.3120C= (p.Asn1040=)
c.3117C= (p.Asn1039=)
c.3099C= (p.Asn1033=)
c.3042C= (p.Asn1014=)
c.2976C= (p.Asn992=)
c.1542C= (p.Asn514=)
c.894C= (p.Asn298=)
c.681C= (p.Asn227=)
c.2955C= (p.Asn985=)
c.3090C= (p.Asn1030=)
c.3096C= (p.Asn1032=)
c.3012C= (p.Asn1004=)
c.2997C= (p.Asn999=)
c.2940C= (p.Asn980=)
c.2874C= (p.Asn958=)
c.2235C= (p.Asn745=)
c.2853C= (p.Asn951=)
9g.137813461C>GCA375794177EHMT1c.3111C>G (p.Asn1037Lys)
c.3018C>G (p.Asn1006Lys)
c.3151C>G (n.3151C>G)
c.1005C>G (p.Asn335Lys)
c.1968C>G (p.Asn656Lys)
n.637C>G
c.3102C>G (p.Asn1034Lys)
c.3093C>G (p.Asn1031Lys)
c.3120C>G (p.Asn1040Lys)
c.3117C>G (p.Asn1039Lys)
c.3099C>G (p.Asn1033Lys)
c.3042C>G (p.Asn1014Lys)
c.2976C>G (p.Asn992Lys)
c.1542C>G (p.Asn514Lys)
c.894C>G (p.Asn298Lys)
c.681C>G (p.Asn227Lys)
c.2955C>G (p.Asn985Lys)
c.3090C>G (p.Asn1030Lys)
c.3096C>G (p.Asn1032Lys)
c.3012C>G (p.Asn1004Lys)
c.2997C>G (p.Asn999Lys)
c.2940C>G (p.Asn980Lys)
c.2874C>G (p.Asn958Lys)
c.2235C>G (p.Asn745Lys)
c.2853C>G (p.Asn951Lys)
9g.137813461C>TCA468161436EHMT1c.3111C>T (p.Asn1037=)
c.3018C>T (p.Asn1006=)
c.3151C>T (n.3151C>T)
c.1005C>T (p.Asn335=)
c.1968C>T (p.Asn656=)
n.637C>T
c.3102C>T (p.Asn1034=)
c.3093C>T (p.Asn1031=)
c.3120C>T (p.Asn1040=)
c.3117C>T (p.Asn1039=)
c.3099C>T (p.Asn1033=)
c.3042C>T (p.Asn1014=)
c.2976C>T (p.Asn992=)
c.1542C>T (p.Asn514=)
c.894C>T (p.Asn298=)
c.681C>T (p.Asn227=)
c.2955C>T (p.Asn985=)
c.3090C>T (p.Asn1030=)
c.3096C>T (p.Asn1032=)
c.3012C>T (p.Asn1004=)
c.2997C>T (p.Asn999=)
c.2940C>T (p.Asn980=)
c.2874C>T (p.Asn958=)
c.2235C>T (p.Asn745=)
c.2853C>T (p.Asn951=)
 dbSNP gnomAD v4
9g.137813462T>ACA375794186EHMT1c.3112T>A (p.Tyr1038Asn)
c.3019T>A (p.Tyr1007Asn)
c.3152T>A (n.3152T>A)
c.1006T>A (p.Tyr336Asn)
c.1969T>A (p.Tyr657Asn)
n.638T>A
c.3103T>A (p.Tyr1035Asn)
c.3094T>A (p.Tyr1032Asn)
c.3121T>A (p.Tyr1041Asn)
c.3118T>A (p.Tyr1040Asn)
c.3100T>A (p.Tyr1034Asn)
c.3043T>A (p.Tyr1015Asn)
c.2977T>A (p.Tyr993Asn)
c.1543T>A (p.Tyr515Asn)
c.895T>A (p.Tyr299Asn)
c.682T>A (p.Tyr228Asn)
c.2956T>A (p.Tyr986Asn)
c.3091T>A (p.Tyr1031Asn)
c.3097T>A (p.Tyr1033Asn)
c.3013T>A (p.Tyr1005Asn)
c.2998T>A (p.Tyr1000Asn)
c.2941T>A (p.Tyr981Asn)
c.2875T>A (p.Tyr959Asn)
c.2236T>A (p.Tyr746Asn)
c.2854T>A (p.Tyr952Asn)
9g.137813462T>CCA375794183EHMT1c.3112T>C (p.Tyr1038His)
c.3019T>C (p.Tyr1007His)
c.3152T>C (n.3152T>C)
c.1006T>C (p.Tyr336His)
c.1969T>C (p.Tyr657His)
n.638T>C
c.3103T>C (p.Tyr1035His)
c.3094T>C (p.Tyr1032His)
c.3121T>C (p.Tyr1041His)
c.3118T>C (p.Tyr1040His)
c.3100T>C (p.Tyr1034His)
c.3043T>C (p.Tyr1015His)
c.2977T>C (p.Tyr993His)
c.1543T>C (p.Tyr515His)
c.895T>C (p.Tyr299His)
c.682T>C (p.Tyr228His)
c.2956T>C (p.Tyr986His)
c.3091T>C (p.Tyr1031His)
c.3097T>C (p.Tyr1033His)
c.3013T>C (p.Tyr1005His)
c.2998T>C (p.Tyr1000His)
c.2941T>C (p.Tyr981His)
c.2875T>C (p.Tyr959His)
c.2236T>C (p.Tyr746His)
c.2854T>C (p.Tyr952His)
9g.137813462T>GCA375794181EHMT1c.3112T>G (p.Tyr1038Asp)
c.3019T>G (p.Tyr1007Asp)
c.3152T>G (n.3152T>G)
c.1006T>G (p.Tyr336Asp)
c.1969T>G (p.Tyr657Asp)
n.638T>G
c.3103T>G (p.Tyr1035Asp)
c.3094T>G (p.Tyr1032Asp)
c.3121T>G (p.Tyr1041Asp)
c.3118T>G (p.Tyr1040Asp)
c.3100T>G (p.Tyr1034Asp)
c.3043T>G (p.Tyr1015Asp)
c.2977T>G (p.Tyr993Asp)
c.1543T>G (p.Tyr515Asp)
c.895T>G (p.Tyr299Asp)
c.682T>G (p.Tyr228Asp)
c.2956T>G (p.Tyr986Asp)
c.3091T>G (p.Tyr1031Asp)
c.3097T>G (p.Tyr1033Asp)
c.3013T>G (p.Tyr1005Asp)
c.2998T>G (p.Tyr1000Asp)
c.2941T>G (p.Tyr981Asp)
c.2875T>G (p.Tyr959Asp)
c.2236T>G (p.Tyr746Asp)
c.2854T>G (p.Tyr952Asp)
9g.137813463A>CCA375794195EHMT1c.3113A>C (p.Tyr1038Ser)
c.3020A>C (p.Tyr1007Ser)
c.3153A>C (n.3153A>C)
c.1007A>C (p.Tyr336Ser)
c.1970A>C (p.Tyr657Ser)
n.639A>C
c.3104A>C (p.Tyr1035Ser)
c.3095A>C (p.Tyr1032Ser)
c.3122A>C (p.Tyr1041Ser)
c.3119A>C (p.Tyr1040Ser)
c.3101A>C (p.Tyr1034Ser)
c.3044A>C (p.Tyr1015Ser)
c.2978A>C (p.Tyr993Ser)
c.1544A>C (p.Tyr515Ser)
c.896A>C (p.Tyr299Ser)
c.683A>C (p.Tyr228Ser)
c.2957A>C (p.Tyr986Ser)
c.3092A>C (p.Tyr1031Ser)
c.3098A>C (p.Tyr1033Ser)
c.3014A>C (p.Tyr1005Ser)
c.2999A>C (p.Tyr1000Ser)
c.2942A>C (p.Tyr981Ser)
c.2876A>C (p.Tyr959Ser)
c.2237A>C (p.Tyr746Ser)
c.2855A>C (p.Tyr952Ser)
 ClinVar
9g.137813463A>GCA375794190EHMT1c.3113A>G (p.Tyr1038Cys)
c.3020A>G (p.Tyr1007Cys)
c.3153A>G (n.3153A>G)
c.1007A>G (p.Tyr336Cys)
c.1970A>G (p.Tyr657Cys)
n.639A>G
c.3104A>G (p.Tyr1035Cys)
c.3095A>G (p.Tyr1032Cys)
c.3122A>G (p.Tyr1041Cys)
c.3119A>G (p.Tyr1040Cys)
c.3101A>G (p.Tyr1034Cys)
c.3044A>G (p.Tyr1015Cys)
c.2978A>G (p.Tyr993Cys)
c.1544A>G (p.Tyr515Cys)
c.896A>G (p.Tyr299Cys)
c.683A>G (p.Tyr228Cys)
c.2957A>G (p.Tyr986Cys)
c.3092A>G (p.Tyr1031Cys)
c.3098A>G (p.Tyr1033Cys)
c.3014A>G (p.Tyr1005Cys)
c.2999A>G (p.Tyr1000Cys)
c.2942A>G (p.Tyr981Cys)
c.2876A>G (p.Tyr959Cys)
c.2237A>G (p.Tyr746Cys)
c.2855A>G (p.Tyr952Cys)
9g.137813463A>TCA375794192EHMT1c.3113A>T (p.Tyr1038Phe)
c.3020A>T (p.Tyr1007Phe)
c.3153A>T (n.3153A>T)
c.1007A>T (p.Tyr336Phe)
c.1970A>T (p.Tyr657Phe)
n.639A>T
c.3104A>T (p.Tyr1035Phe)
c.3095A>T (p.Tyr1032Phe)
c.3122A>T (p.Tyr1041Phe)
c.3119A>T (p.Tyr1040Phe)
c.3101A>T (p.Tyr1034Phe)
c.3044A>T (p.Tyr1015Phe)
c.2978A>T (p.Tyr993Phe)
c.1544A>T (p.Tyr515Phe)
c.896A>T (p.Tyr299Phe)
c.683A>T (p.Tyr228Phe)
c.2957A>T (p.Tyr986Phe)
c.3092A>T (p.Tyr1031Phe)
c.3098A>T (p.Tyr1033Phe)
c.3014A>T (p.Tyr1005Phe)
c.2999A>T (p.Tyr1000Phe)
c.2942A>T (p.Tyr981Phe)
c.2876A>T (p.Tyr959Phe)
c.2237A>T (p.Tyr746Phe)
c.2855A>T (p.Tyr952Phe)
9g.137813464C>ACA375794199EHMT1c.3114C>A (p.Tyr1038Ter)
c.3021C>A (p.Tyr1007Ter)
c.3154C>A (n.3154C>A)
c.1008C>A (p.Tyr336Ter)
c.1971C>A (p.Tyr657Ter)
n.640C>A
c.3105C>A (p.Tyr1035Ter)
c.3096C>A (p.Tyr1032Ter)
c.3123C>A (p.Tyr1041Ter)
c.3120C>A (p.Tyr1040Ter)
c.3102C>A (p.Tyr1034Ter)
c.3045C>A (p.Tyr1015Ter)
c.2979C>A (p.Tyr993Ter)
c.1545C>A (p.Tyr515Ter)
c.897C>A (p.Tyr299Ter)
c.684C>A (p.Tyr228Ter)
c.2958C>A (p.Tyr986Ter)
c.3093C>A (p.Tyr1031Ter)
c.3099C>A (p.Tyr1033Ter)
c.3015C>A (p.Tyr1005Ter)
c.3000C>A (p.Tyr1000Ter)
c.2943C>A (p.Tyr981Ter)
c.2877C>A (p.Tyr959Ter)
c.2238C>A (p.Tyr746Ter)
c.2856C>A (p.Tyr952Ter)
9g.137813464C=CA1884685901EHMT1c.3114C= (p.Tyr1038=)
c.3021C= (p.Tyr1007=)
c.3154C= (n.3154C=)
c.1008C= (p.Tyr336=)
c.1971C= (p.Tyr657=)
n.640C=
c.3105C= (p.Tyr1035=)
c.3096C= (p.Tyr1032=)
c.3123C= (p.Tyr1041=)
c.3120C= (p.Tyr1040=)
c.3102C= (p.Tyr1034=)
c.3045C= (p.Tyr1015=)
c.2979C= (p.Tyr993=)
c.1545C= (p.Tyr515=)
c.897C= (p.Tyr299=)
c.684C= (p.Tyr228=)
c.2958C= (p.Tyr986=)
c.3093C= (p.Tyr1031=)
c.3099C= (p.Tyr1033=)
c.3015C= (p.Tyr1005=)
c.3000C= (p.Tyr1000=)
c.2943C= (p.Tyr981=)
c.2877C= (p.Tyr959=)
c.2238C= (p.Tyr746=)
c.2856C= (p.Tyr952=)
9g.137813464C>GCA375794212EHMT1c.3114C>G (p.Tyr1038Ter)
c.3021C>G (p.Tyr1007Ter)
c.3154C>G (n.3154C>G)
c.1008C>G (p.Tyr336Ter)
c.1971C>G (p.Tyr657Ter)
n.640C>G
c.3105C>G (p.Tyr1035Ter)
c.3096C>G (p.Tyr1032Ter)
c.3123C>G (p.Tyr1041Ter)
c.3120C>G (p.Tyr1040Ter)
c.3102C>G (p.Tyr1034Ter)
c.3045C>G (p.Tyr1015Ter)
c.2979C>G (p.Tyr993Ter)
c.1545C>G (p.Tyr515Ter)
c.897C>G (p.Tyr299Ter)
c.684C>G (p.Tyr228Ter)
c.2958C>G (p.Tyr986Ter)
c.3093C>G (p.Tyr1031Ter)
c.3099C>G (p.Tyr1033Ter)
c.3015C>G (p.Tyr1005Ter)
c.3000C>G (p.Tyr1000Ter)
c.2943C>G (p.Tyr981Ter)
c.2877C>G (p.Tyr959Ter)
c.2238C>G (p.Tyr746Ter)
c.2856C>G (p.Tyr952Ter)
9g.137813464C>TCA5375168EHMT1c.3114C>T (p.Tyr1038=)
c.3021C>T (p.Tyr1007=)
c.3154C>T (n.3154C>T)
c.1008C>T (p.Tyr336=)
c.1971C>T (p.Tyr657=)
n.640C>T
c.3105C>T (p.Tyr1035=)
c.3096C>T (p.Tyr1032=)
c.3123C>T (p.Tyr1041=)
c.3120C>T (p.Tyr1040=)
c.3102C>T (p.Tyr1034=)
c.3045C>T (p.Tyr1015=)
c.2979C>T (p.Tyr993=)
c.1545C>T (p.Tyr515=)
c.897C>T (p.Tyr299=)
c.684C>T (p.Tyr228=)
c.2958C>T (p.Tyr986=)
c.3093C>T (p.Tyr1031=)
c.3099C>T (p.Tyr1033=)
c.3015C>T (p.Tyr1005=)
c.3000C>T (p.Tyr1000=)
c.2943C>T (p.Tyr981=)
c.2877C>T (p.Tyr959=)
c.2238C>T (p.Tyr746=)
c.2856C>T (p.Tyr952=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137813465A=CA1884685902EHMT1c.3115A= (p.Lys1039=)
c.3022A= (p.Lys1008=)
c.3155A= (n.3155A=)
c.1009A= (p.Lys337=)
c.1972A= (p.Lys658=)
n.641A=
c.3106A= (p.Lys1036=)
c.3097A= (p.Lys1033=)
c.3124A= (p.Lys1042=)
c.3121A= (p.Lys1041=)
c.3103A= (p.Lys1035=)
c.3046A= (p.Lys1016=)
c.2980A= (p.Lys994=)
c.1546A= (p.Lys516=)
c.898A= (p.Lys300=)
c.685A= (p.Lys229=)
c.2959A= (p.Lys987=)
c.3094A= (p.Lys1032=)
c.3100A= (p.Lys1034=)
c.3016A= (p.Lys1006=)
c.3001A= (p.Lys1001=)
c.2944A= (p.Lys982=)
c.2878A= (p.Lys960=)
c.2239A= (p.Lys747=)
c.2857A= (p.Lys953=)
9g.137813465A>CCA375794217EHMT1c.3115A>C (p.Lys1039Gln)
c.3022A>C (p.Lys1008Gln)
c.3155A>C (n.3155A>C)
c.1009A>C (p.Lys337Gln)
c.1972A>C (p.Lys658Gln)
n.641A>C
c.3106A>C (p.Lys1036Gln)
c.3097A>C (p.Lys1033Gln)
c.3124A>C (p.Lys1042Gln)
c.3121A>C (p.Lys1041Gln)
c.3103A>C (p.Lys1035Gln)
c.3046A>C (p.Lys1016Gln)
c.2980A>C (p.Lys994Gln)
c.1546A>C (p.Lys516Gln)
c.898A>C (p.Lys300Gln)
c.685A>C (p.Lys229Gln)
c.2959A>C (p.Lys987Gln)
c.3094A>C (p.Lys1032Gln)
c.3100A>C (p.Lys1034Gln)
c.3016A>C (p.Lys1006Gln)
c.3001A>C (p.Lys1001Gln)
c.2944A>C (p.Lys982Gln)
c.2878A>C (p.Lys960Gln)
c.2239A>C (p.Lys747Gln)
c.2857A>C (p.Lys953Gln)
 dbSNP gnomAD v2 gnomAD v4
9g.137813465A>GCA375794221EHMT1c.3115A>G (p.Lys1039Glu)
c.3022A>G (p.Lys1008Glu)
c.3155A>G (n.3155A>G)
c.1009A>G (p.Lys337Glu)
c.1972A>G (p.Lys658Glu)
n.641A>G
c.3106A>G (p.Lys1036Glu)
c.3097A>G (p.Lys1033Glu)
c.3124A>G (p.Lys1042Glu)
c.3121A>G (p.Lys1041Glu)
c.3103A>G (p.Lys1035Glu)
c.3046A>G (p.Lys1016Glu)
c.2980A>G (p.Lys994Glu)
c.1546A>G (p.Lys516Glu)
c.898A>G (p.Lys300Glu)
c.685A>G (p.Lys229Glu)
c.2959A>G (p.Lys987Glu)
c.3094A>G (p.Lys1032Glu)
c.3100A>G (p.Lys1034Glu)
c.3016A>G (p.Lys1006Glu)
c.3001A>G (p.Lys1001Glu)
c.2944A>G (p.Lys982Glu)
c.2878A>G (p.Lys960Glu)
c.2239A>G (p.Lys747Glu)
c.2857A>G (p.Lys953Glu)
9g.137813465A>TCA375794224EHMT1c.3115A>T (p.Lys1039Ter)
c.3022A>T (p.Lys1008Ter)
c.3155A>T (n.3155A>T)
c.1009A>T (p.Lys337Ter)
c.1972A>T (p.Lys658Ter)
n.641A>T
c.3106A>T (p.Lys1036Ter)
c.3097A>T (p.Lys1033Ter)
c.3124A>T (p.Lys1042Ter)
c.3121A>T (p.Lys1041Ter)
c.3103A>T (p.Lys1035Ter)
c.3046A>T (p.Lys1016Ter)
c.2980A>T (p.Lys994Ter)
c.1546A>T (p.Lys516Ter)
c.898A>T (p.Lys300Ter)
c.685A>T (p.Lys229Ter)
c.2959A>T (p.Lys987Ter)
c.3094A>T (p.Lys1032Ter)
c.3100A>T (p.Lys1034Ter)
c.3016A>T (p.Lys1006Ter)
c.3001A>T (p.Lys1001Ter)
c.2944A>T (p.Lys982Ter)
c.2878A>T (p.Lys960Ter)
c.2239A>T (p.Lys747Ter)
c.2857A>T (p.Lys953Ter)
9g.137813466A>CCA375794228EHMT1c.3116A>C (p.Lys1039Thr)
c.3023A>C (p.Lys1008Thr)
c.3156A>C (n.3156A>C)
c.1010A>C (p.Lys337Thr)
c.1973A>C (p.Lys658Thr)
n.642A>C
c.3107A>C (p.Lys1036Thr)
c.3098A>C (p.Lys1033Thr)
c.3125A>C (p.Lys1042Thr)
c.3122A>C (p.Lys1041Thr)
c.3104A>C (p.Lys1035Thr)
c.3047A>C (p.Lys1016Thr)
c.2981A>C (p.Lys994Thr)
c.1547A>C (p.Lys516Thr)
c.899A>C (p.Lys300Thr)
c.686A>C (p.Lys229Thr)
c.2960A>C (p.Lys987Thr)
c.3095A>C (p.Lys1032Thr)
c.3101A>C (p.Lys1034Thr)
c.3017A>C (p.Lys1006Thr)
c.3002A>C (p.Lys1001Thr)
c.2945A>C (p.Lys982Thr)
c.2879A>C (p.Lys960Thr)
c.2240A>C (p.Lys747Thr)
c.2858A>C (p.Lys953Thr)
9g.137813466A>GCA375794232EHMT1c.3116A>G (p.Lys1039Arg)
c.3023A>G (p.Lys1008Arg)
c.3156A>G (n.3156A>G)
c.1010A>G (p.Lys337Arg)
c.1973A>G (p.Lys658Arg)
n.642A>G
c.3107A>G (p.Lys1036Arg)
c.3098A>G (p.Lys1033Arg)
c.3125A>G (p.Lys1042Arg)
c.3122A>G (p.Lys1041Arg)
c.3104A>G (p.Lys1035Arg)
c.3047A>G (p.Lys1016Arg)
c.2981A>G (p.Lys994Arg)
c.1547A>G (p.Lys516Arg)
c.899A>G (p.Lys300Arg)
c.686A>G (p.Lys229Arg)
c.2960A>G (p.Lys987Arg)
c.3095A>G (p.Lys1032Arg)
c.3101A>G (p.Lys1034Arg)
c.3017A>G (p.Lys1006Arg)
c.3002A>G (p.Lys1001Arg)
c.2945A>G (p.Lys982Arg)
c.2879A>G (p.Lys960Arg)
c.2240A>G (p.Lys747Arg)
c.2858A>G (p.Lys953Arg)
9g.137813466A>TCA375794235EHMT1c.3116A>T (p.Lys1039Met)
c.3023A>T (p.Lys1008Met)
c.3156A>T (n.3156A>T)
c.1010A>T (p.Lys337Met)
c.1973A>T (p.Lys658Met)
n.642A>T
c.3107A>T (p.Lys1036Met)
c.3098A>T (p.Lys1033Met)
c.3125A>T (p.Lys1042Met)
c.3122A>T (p.Lys1041Met)
c.3104A>T (p.Lys1035Met)
c.3047A>T (p.Lys1016Met)
c.2981A>T (p.Lys994Met)
c.1547A>T (p.Lys516Met)
c.899A>T (p.Lys300Met)
c.686A>T (p.Lys229Met)
c.2960A>T (p.Lys987Met)
c.3095A>T (p.Lys1032Met)
c.3101A>T (p.Lys1034Met)
c.3017A>T (p.Lys1006Met)
c.3002A>T (p.Lys1001Met)
c.2945A>T (p.Lys982Met)
c.2879A>T (p.Lys960Met)
c.2240A>T (p.Lys747Met)
c.2858A>T (p.Lys953Met)
9g.137813467G>ACA468161437EHMT1c.3117G>A (p.Lys1039=)
c.3024G>A (p.Lys1008=)
c.3157G>A (n.3157G>A)
c.1011G>A (p.Lys337=)
c.1974G>A (p.Lys658=)
n.643G>A
c.3108G>A (p.Lys1036=)
c.3099G>A (p.Lys1033=)
c.3126G>A (p.Lys1042=)
c.3123G>A (p.Lys1041=)
c.3105G>A (p.Lys1035=)
c.3048G>A (p.Lys1016=)
c.2982G>A (p.Lys994=)
c.1548G>A (p.Lys516=)
c.900G>A (p.Lys300=)
c.687G>A (p.Lys229=)
c.2961G>A (p.Lys987=)
c.3096G>A (p.Lys1032=)
c.3102G>A (p.Lys1034=)
c.3018G>A (p.Lys1006=)
c.3003G>A (p.Lys1001=)
c.2946G>A (p.Lys982=)
c.2880G>A (p.Lys960=)
c.2241G>A (p.Lys747=)
c.2859G>A (p.Lys953=)
9g.137813467G>CCA375794238EHMT1c.3117G>C (p.Lys1039Asn)
c.3024G>C (p.Lys1008Asn)
c.3157G>C (n.3157G>C)
c.1011G>C (p.Lys337Asn)
c.1974G>C (p.Lys658Asn)
n.643G>C
c.3108G>C (p.Lys1036Asn)
c.3099G>C (p.Lys1033Asn)
c.3126G>C (p.Lys1042Asn)
c.3123G>C (p.Lys1041Asn)
c.3105G>C (p.Lys1035Asn)
c.3048G>C (p.Lys1016Asn)
c.2982G>C (p.Lys994Asn)
c.1548G>C (p.Lys516Asn)
c.900G>C (p.Lys300Asn)
c.687G>C (p.Lys229Asn)
c.2961G>C (p.Lys987Asn)
c.3096G>C (p.Lys1032Asn)
c.3102G>C (p.Lys1034Asn)
c.3018G>C (p.Lys1006Asn)
c.3003G>C (p.Lys1001Asn)
c.2946G>C (p.Lys982Asn)
c.2880G>C (p.Lys960Asn)
c.2241G>C (p.Lys747Asn)
c.2859G>C (p.Lys953Asn)
9g.137813467G>TCA375794242EHMT1c.3117G>T (p.Lys1039Asn)
c.3024G>T (p.Lys1008Asn)
c.3157G>T (n.3157G>T)
c.1011G>T (p.Lys337Asn)
c.1974G>T (p.Lys658Asn)
n.643G>T
c.3108G>T (p.Lys1036Asn)
c.3099G>T (p.Lys1033Asn)
c.3126G>T (p.Lys1042Asn)
c.3123G>T (p.Lys1041Asn)
c.3105G>T (p.Lys1035Asn)
c.3048G>T (p.Lys1016Asn)
c.2982G>T (p.Lys994Asn)
c.1548G>T (p.Lys516Asn)
c.900G>T (p.Lys300Asn)
c.687G>T (p.Lys229Asn)
c.2961G>T (p.Lys987Asn)
c.3096G>T (p.Lys1032Asn)
c.3102G>T (p.Lys1034Asn)
c.3018G>T (p.Lys1006Asn)
c.3003G>T (p.Lys1001Asn)
c.2946G>T (p.Lys982Asn)
c.2880G>T (p.Lys960Asn)
c.2241G>T (p.Lys747Asn)
c.2859G>T (p.Lys953Asn)
9g.137813468T>ACA375794260EHMT1c.3118T>A (p.Tyr1040Asn)
c.3025T>A (p.Tyr1009Asn)
c.3158T>A (n.3158T>A)
c.1012T>A (p.Tyr338Asn)
c.1975T>A (p.Tyr659Asn)
n.644T>A
c.3109T>A (p.Tyr1037Asn)
c.3100T>A (p.Tyr1034Asn)
c.3127T>A (p.Tyr1043Asn)
c.3124T>A (p.Tyr1042Asn)
c.3106T>A (p.Tyr1036Asn)
c.3049T>A (p.Tyr1017Asn)
c.2983T>A (p.Tyr995Asn)
c.1549T>A (p.Tyr517Asn)
c.901T>A (p.Tyr301Asn)
c.688T>A (p.Tyr230Asn)
c.2962T>A (p.Tyr988Asn)
c.3097T>A (p.Tyr1033Asn)
c.3103T>A (p.Tyr1035Asn)
c.3019T>A (p.Tyr1007Asn)
c.3004T>A (p.Tyr1002Asn)
c.2947T>A (p.Tyr983Asn)
c.2881T>A (p.Tyr961Asn)
c.2242T>A (p.Tyr748Asn)
c.2860T>A (p.Tyr954Asn)
9g.137813468T>CCA375794249EHMT1c.3118T>C (p.Tyr1040His)
c.3025T>C (p.Tyr1009His)
c.3158T>C (n.3158T>C)
c.1012T>C (p.Tyr338His)
c.1975T>C (p.Tyr659His)
n.644T>C
c.3109T>C (p.Tyr1037His)
c.3100T>C (p.Tyr1034His)
c.3127T>C (p.Tyr1043His)
c.3124T>C (p.Tyr1042His)
c.3106T>C (p.Tyr1036His)
c.3049T>C (p.Tyr1017His)
c.2983T>C (p.Tyr995His)
c.1549T>C (p.Tyr517His)
c.901T>C (p.Tyr301His)
c.688T>C (p.Tyr230His)
c.2962T>C (p.Tyr988His)
c.3097T>C (p.Tyr1033His)
c.3103T>C (p.Tyr1035His)
c.3019T>C (p.Tyr1007His)
c.3004T>C (p.Tyr1002His)
c.2947T>C (p.Tyr983His)
c.2881T>C (p.Tyr961His)
c.2242T>C (p.Tyr748His)
c.2860T>C (p.Tyr954His)
9g.137813468T>GCA375794259EHMT1c.3118T>G (p.Tyr1040Asp)
c.3025T>G (p.Tyr1009Asp)
c.3158T>G (n.3158T>G)
c.1012T>G (p.Tyr338Asp)
c.1975T>G (p.Tyr659Asp)
n.644T>G
c.3109T>G (p.Tyr1037Asp)
c.3100T>G (p.Tyr1034Asp)
c.3127T>G (p.Tyr1043Asp)
c.3124T>G (p.Tyr1042Asp)
c.3106T>G (p.Tyr1036Asp)
c.3049T>G (p.Tyr1017Asp)
c.2983T>G (p.Tyr995Asp)
c.1549T>G (p.Tyr517Asp)
c.901T>G (p.Tyr301Asp)
c.688T>G (p.Tyr230Asp)
c.2962T>G (p.Tyr988Asp)
c.3097T>G (p.Tyr1033Asp)
c.3103T>G (p.Tyr1035Asp)
c.3019T>G (p.Tyr1007Asp)
c.3004T>G (p.Tyr1002Asp)
c.2947T>G (p.Tyr983Asp)
c.2881T>G (p.Tyr961Asp)
c.2242T>G (p.Tyr748Asp)
c.2860T>G (p.Tyr954Asp)
9g.137813469A=CA1884685903EHMT1c.3119A= (p.Tyr1040=)
c.3026A= (p.Tyr1009=)
c.3159A= (n.3159A=)
c.1013A= (p.Tyr338=)
c.1976A= (p.Tyr659=)
n.645A=
c.3110A= (p.Tyr1037=)
c.3101A= (p.Tyr1034=)
c.3128A= (p.Tyr1043=)
c.3125A= (p.Tyr1042=)
c.3107A= (p.Tyr1036=)
c.3050A= (p.Tyr1017=)
c.2984A= (p.Tyr995=)
c.1550A= (p.Tyr517=)
c.902A= (p.Tyr301=)
c.689A= (p.Tyr230=)
c.2963A= (p.Tyr988=)
c.3098A= (p.Tyr1033=)
c.3104A= (p.Tyr1035=)
c.3020A= (p.Tyr1007=)
c.3005A= (p.Tyr1002=)
c.2948A= (p.Tyr983=)
c.2882A= (p.Tyr961=)
c.2243A= (p.Tyr748=)
c.2861A= (p.Tyr954=)
9g.137813469A>CCA375794261EHMT1c.3119A>C (p.Tyr1040Ser)
c.3026A>C (p.Tyr1009Ser)
c.3159A>C (n.3159A>C)
c.1013A>C (p.Tyr338Ser)
c.1976A>C (p.Tyr659Ser)
n.645A>C
c.3110A>C (p.Tyr1037Ser)
c.3101A>C (p.Tyr1034Ser)
c.3128A>C (p.Tyr1043Ser)
c.3125A>C (p.Tyr1042Ser)
c.3107A>C (p.Tyr1036Ser)
c.3050A>C (p.Tyr1017Ser)
c.2984A>C (p.Tyr995Ser)
c.1550A>C (p.Tyr517Ser)
c.902A>C (p.Tyr301Ser)
c.689A>C (p.Tyr230Ser)
c.2963A>C (p.Tyr988Ser)
c.3098A>C (p.Tyr1033Ser)
c.3104A>C (p.Tyr1035Ser)
c.3020A>C (p.Tyr1007Ser)
c.3005A>C (p.Tyr1002Ser)
c.2948A>C (p.Tyr983Ser)
c.2882A>C (p.Tyr961Ser)
c.2243A>C (p.Tyr748Ser)
c.2861A>C (p.Tyr954Ser)
9g.137813469A>GCA375794262EHMT1c.3119A>G (p.Tyr1040Cys)
c.3026A>G (p.Tyr1009Cys)
c.3159A>G (n.3159A>G)
c.1013A>G (p.Tyr338Cys)
c.1976A>G (p.Tyr659Cys)
n.645A>G
c.3110A>G (p.Tyr1037Cys)
c.3101A>G (p.Tyr1034Cys)
c.3128A>G (p.Tyr1043Cys)
c.3125A>G (p.Tyr1042Cys)
c.3107A>G (p.Tyr1036Cys)
c.3050A>G (p.Tyr1017Cys)
c.2984A>G (p.Tyr995Cys)
c.1550A>G (p.Tyr517Cys)
c.902A>G (p.Tyr301Cys)
c.689A>G (p.Tyr230Cys)
c.2963A>G (p.Tyr988Cys)
c.3098A>G (p.Tyr1033Cys)
c.3104A>G (p.Tyr1035Cys)
c.3020A>G (p.Tyr1007Cys)
c.3005A>G (p.Tyr1002Cys)
c.2948A>G (p.Tyr983Cys)
c.2882A>G (p.Tyr961Cys)
c.2243A>G (p.Tyr748Cys)
c.2861A>G (p.Tyr954Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137813469A>TCA375794265EHMT1c.3119A>T (p.Tyr1040Phe)
c.3026A>T (p.Tyr1009Phe)
c.3159A>T (n.3159A>T)
c.1013A>T (p.Tyr338Phe)
c.1976A>T (p.Tyr659Phe)
n.645A>T
c.3110A>T (p.Tyr1037Phe)
c.3101A>T (p.Tyr1034Phe)
c.3128A>T (p.Tyr1043Phe)
c.3125A>T (p.Tyr1042Phe)
c.3107A>T (p.Tyr1036Phe)
c.3050A>T (p.Tyr1017Phe)
c.2984A>T (p.Tyr995Phe)
c.1550A>T (p.Tyr517Phe)
c.902A>T (p.Tyr301Phe)
c.689A>T (p.Tyr230Phe)
c.2963A>T (p.Tyr988Phe)
c.3098A>T (p.Tyr1033Phe)
c.3104A>T (p.Tyr1035Phe)
c.3020A>T (p.Tyr1007Phe)
c.3005A>T (p.Tyr1002Phe)
c.2948A>T (p.Tyr983Phe)
c.2882A>T (p.Tyr961Phe)
c.2243A>T (p.Tyr748Phe)
c.2861A>T (p.Tyr954Phe)
9g.137813470C>ACA375794267EHMT1c.3120C>A (p.Tyr1040Ter)
c.3027C>A (p.Tyr1009Ter)
c.3160C>A (n.3160C>A)
c.1014C>A (p.Tyr338Ter)
c.1977C>A (p.Tyr659Ter)
n.646C>A
c.3111C>A (p.Tyr1037Ter)
c.3102C>A (p.Tyr1034Ter)
c.3129C>A (p.Tyr1043Ter)
c.3126C>A (p.Tyr1042Ter)
c.3108C>A (p.Tyr1036Ter)
c.3051C>A (p.Tyr1017Ter)
c.2985C>A (p.Tyr995Ter)
c.1551C>A (p.Tyr517Ter)
c.903C>A (p.Tyr301Ter)
c.690C>A (p.Tyr230Ter)
c.2964C>A (p.Tyr988Ter)
c.3099C>A (p.Tyr1033Ter)
c.3105C>A (p.Tyr1035Ter)
c.3021C>A (p.Tyr1007Ter)
c.3006C>A (p.Tyr1002Ter)
c.2949C>A (p.Tyr983Ter)
c.2883C>A (p.Tyr961Ter)
c.2244C>A (p.Tyr748Ter)
c.2862C>A (p.Tyr954Ter)
9g.137813470C=CA1884685904EHMT1c.3120C= (p.Tyr1040=)
c.3027C= (p.Tyr1009=)
c.3160C= (n.3160C=)
c.1014C= (p.Tyr338=)
c.1977C= (p.Tyr659=)
n.646C=
c.3111C= (p.Tyr1037=)
c.3102C= (p.Tyr1034=)
c.3129C= (p.Tyr1043=)
c.3126C= (p.Tyr1042=)
c.3108C= (p.Tyr1036=)
c.3051C= (p.Tyr1017=)
c.2985C= (p.Tyr995=)
c.1551C= (p.Tyr517=)
c.903C= (p.Tyr301=)
c.690C= (p.Tyr230=)
c.2964C= (p.Tyr988=)
c.3099C= (p.Tyr1033=)
c.3105C= (p.Tyr1035=)
c.3021C= (p.Tyr1007=)
c.3006C= (p.Tyr1002=)
c.2949C= (p.Tyr983=)
c.2883C= (p.Tyr961=)
c.2244C= (p.Tyr748=)
c.2862C= (p.Tyr954=)
9g.137813470C>GCA375794269EHMT1c.3120C>G (p.Tyr1040Ter)
c.3027C>G (p.Tyr1009Ter)
c.3160C>G (n.3160C>G)
c.1014C>G (p.Tyr338Ter)
c.1977C>G (p.Tyr659Ter)
n.646C>G
c.3111C>G (p.Tyr1037Ter)
c.3102C>G (p.Tyr1034Ter)
c.3129C>G (p.Tyr1043Ter)
c.3126C>G (p.Tyr1042Ter)
c.3108C>G (p.Tyr1036Ter)
c.3051C>G (p.Tyr1017Ter)
c.2985C>G (p.Tyr995Ter)
c.1551C>G (p.Tyr517Ter)
c.903C>G (p.Tyr301Ter)
c.690C>G (p.Tyr230Ter)
c.2964C>G (p.Tyr988Ter)
c.3099C>G (p.Tyr1033Ter)
c.3105C>G (p.Tyr1035Ter)
c.3021C>G (p.Tyr1007Ter)
c.3006C>G (p.Tyr1002Ter)
c.2949C>G (p.Tyr983Ter)
c.2883C>G (p.Tyr961Ter)
c.2244C>G (p.Tyr748Ter)
c.2862C>G (p.Tyr954Ter)
9g.137813470C>TCA5375169EHMT1c.3120C>T (p.Tyr1040=)
c.3027C>T (p.Tyr1009=)
c.3160C>T (n.3160C>T)
c.1014C>T (p.Tyr338=)
c.1977C>T (p.Tyr659=)
n.646C>T
c.3111C>T (p.Tyr1037=)
c.3102C>T (p.Tyr1034=)
c.3129C>T (p.Tyr1043=)
c.3126C>T (p.Tyr1042=)
c.3108C>T (p.Tyr1036=)
c.3051C>T (p.Tyr1017=)
c.2985C>T (p.Tyr995=)
c.1551C>T (p.Tyr517=)
c.903C>T (p.Tyr301=)
c.690C>T (p.Tyr230=)
c.2964C>T (p.Tyr988=)
c.3099C>T (p.Tyr1033=)
c.3105C>T (p.Tyr1035=)
c.3021C>T (p.Tyr1007=)
c.3006C>T (p.Tyr1002=)
c.2949C>T (p.Tyr983=)
c.2883C>T (p.Tyr961=)
c.2244C>T (p.Tyr748=)
c.2862C>T (p.Tyr954=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813471G>ACA5375170EHMT1c.3121G>A (p.Val1041Ile)
c.3028G>A (p.Val1010Ile)
c.3161G>A (n.3161G>A)
c.1015G>A (p.Val339Ile)
c.1978G>A (p.Val660Ile)
n.647G>A
c.3112G>A (p.Val1038Ile)
c.3103G>A (p.Val1035Ile)
c.3130G>A (p.Val1044Ile)
c.3127G>A (p.Val1043Ile)
c.3109G>A (p.Val1037Ile)
c.3052G>A (p.Val1018Ile)
c.2986G>A (p.Val996Ile)
c.1552G>A (p.Val518Ile)
c.904G>A (p.Val302Ile)
c.691G>A (p.Val231Ile)
c.2965G>A (p.Val989Ile)
c.3100G>A (p.Val1034Ile)
c.3106G>A (p.Val1036Ile)
c.3022G>A (p.Val1008Ile)
c.3007G>A (p.Val1003Ile)
c.2950G>A (p.Val984Ile)
c.2884G>A (p.Val962Ile)
c.2245G>A (p.Val749Ile)
c.2863G>A (p.Val955Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813471G>CCA375794298EHMT1c.3121G>C (p.Val1041Leu)
c.3028G>C (p.Val1010Leu)
c.3161G>C (n.3161G>C)
c.1015G>C (p.Val339Leu)
c.1978G>C (p.Val660Leu)
n.647G>C
c.3112G>C (p.Val1038Leu)
c.3103G>C (p.Val1035Leu)
c.3130G>C (p.Val1044Leu)
c.3127G>C (p.Val1043Leu)
c.3109G>C (p.Val1037Leu)
c.3052G>C (p.Val1018Leu)
c.2986G>C (p.Val996Leu)
c.1552G>C (p.Val518Leu)
c.904G>C (p.Val302Leu)
c.691G>C (p.Val231Leu)
c.2965G>C (p.Val989Leu)
c.3100G>C (p.Val1034Leu)
c.3106G>C (p.Val1036Leu)
c.3022G>C (p.Val1008Leu)
c.3007G>C (p.Val1003Leu)
c.2950G>C (p.Val984Leu)
c.2884G>C (p.Val962Leu)
c.2245G>C (p.Val749Leu)
c.2863G>C (p.Val955Leu)
9g.137813471G=CA1884685905EHMT1c.3121G= (p.Val1041=)
c.3028G= (p.Val1010=)
c.3161G= (n.3161G=)
c.1015G= (p.Val339=)
c.1978G= (p.Val660=)
n.647G=
c.3112G= (p.Val1038=)
c.3103G= (p.Val1035=)
c.3130G= (p.Val1044=)
c.3127G= (p.Val1043=)
c.3109G= (p.Val1037=)
c.3052G= (p.Val1018=)
c.2986G= (p.Val996=)
c.1552G= (p.Val518=)
c.904G= (p.Val302=)
c.691G= (p.Val231=)
c.2965G= (p.Val989=)
c.3100G= (p.Val1034=)
c.3106G= (p.Val1036=)
c.3022G= (p.Val1008=)
c.3007G= (p.Val1003=)
c.2950G= (p.Val984=)
c.2884G= (p.Val962=)
c.2245G= (p.Val749=)
c.2863G= (p.Val955=)
9g.137813471G>TCA375794306EHMT1c.3121G>T (p.Val1041Phe)
c.3028G>T (p.Val1010Phe)
c.3161G>T (n.3161G>T)
c.1015G>T (p.Val339Phe)
c.1978G>T (p.Val660Phe)
n.647G>T
c.3112G>T (p.Val1038Phe)
c.3103G>T (p.Val1035Phe)
c.3130G>T (p.Val1044Phe)
c.3127G>T (p.Val1043Phe)
c.3109G>T (p.Val1037Phe)
c.3052G>T (p.Val1018Phe)
c.2986G>T (p.Val996Phe)
c.1552G>T (p.Val518Phe)
c.904G>T (p.Val302Phe)
c.691G>T (p.Val231Phe)
c.2965G>T (p.Val989Phe)
c.3100G>T (p.Val1034Phe)
c.3106G>T (p.Val1036Phe)
c.3022G>T (p.Val1008Phe)
c.3007G>T (p.Val1003Phe)
c.2950G>T (p.Val984Phe)
c.2884G>T (p.Val962Phe)
c.2245G>T (p.Val749Phe)
c.2863G>T (p.Val955Phe)
9g.137813471_137813473delinsGTCCA1884685906EHMT1c.3121_3123delinsGTC (p.Val1041=)
c.3028_3030delinsGTC (p.Val1010=)
c.3161_3163delinsGTC (n.3161_3163delinsGTC)
c.1015_1017delinsGTC (p.Val339=)
c.1978_1980delinsGTC (p.Val660=)
n.647_649delinsGTC
c.3112_3114delinsGTC (p.Val1038=)
c.3103_3105delinsGTC (p.Val1035=)
c.3130_3132delinsGTC (p.Val1044=)
c.3127_3129delinsGTC (p.Val1043=)
c.3109_3111delinsGTC (p.Val1037=)
c.3052_3054delinsGTC (p.Val1018=)
c.2986_2988delinsGTC (p.Val996=)
c.1552_1554delinsGTC (p.Val518=)
c.904_906delinsGTC (p.Val302=)
c.691_693delinsGTC (p.Val231=)
c.2965_2967delinsGTC (p.Val989=)
c.3100_3102delinsGTC (p.Val1034=)
c.3106_3108delinsGTC (p.Val1036=)
c.3022_3024delinsGTC (p.Val1008=)
c.3007_3009delinsGTC (p.Val1003=)
c.2950_2952delinsGTC (p.Val984=)
c.2884_2886delinsGTC (p.Val962=)
c.2245_2247delinsGTC (p.Val749=)
c.2863_2865delinsGTC (p.Val955=)
9g.137813472T>ACA375794309EHMT1c.3122T>A (p.Val1041Asp)
c.3029T>A (p.Val1010Asp)
c.3162T>A (n.3162T>A)
c.1016T>A (p.Val339Asp)
c.1979T>A (p.Val660Asp)
n.648T>A
c.3113T>A (p.Val1038Asp)
c.3104T>A (p.Val1035Asp)
c.3131T>A (p.Val1044Asp)
c.3128T>A (p.Val1043Asp)
c.3110T>A (p.Val1037Asp)
c.3053T>A (p.Val1018Asp)
c.2987T>A (p.Val996Asp)
c.1553T>A (p.Val518Asp)
c.905T>A (p.Val302Asp)
c.692T>A (p.Val231Asp)
c.2966T>A (p.Val989Asp)
c.3101T>A (p.Val1034Asp)
c.3107T>A (p.Val1036Asp)
c.3023T>A (p.Val1008Asp)
c.3008T>A (p.Val1003Asp)
c.2951T>A (p.Val984Asp)
c.2885T>A (p.Val962Asp)
c.2246T>A (p.Val749Asp)
c.2864T>A (p.Val955Asp)
9g.137813472T>CCA375794311EHMT1c.3122T>C (p.Val1041Ala)
c.3029T>C (p.Val1010Ala)
c.3162T>C (n.3162T>C)
c.1016T>C (p.Val339Ala)
c.1979T>C (p.Val660Ala)
n.648T>C
c.3113T>C (p.Val1038Ala)
c.3104T>C (p.Val1035Ala)
c.3131T>C (p.Val1044Ala)
c.3128T>C (p.Val1043Ala)
c.3110T>C (p.Val1037Ala)
c.3053T>C (p.Val1018Ala)
c.2987T>C (p.Val996Ala)
c.1553T>C (p.Val518Ala)
c.905T>C (p.Val302Ala)
c.692T>C (p.Val231Ala)
c.2966T>C (p.Val989Ala)
c.3101T>C (p.Val1034Ala)
c.3107T>C (p.Val1036Ala)
c.3023T>C (p.Val1008Ala)
c.3008T>C (p.Val1003Ala)
c.2951T>C (p.Val984Ala)
c.2885T>C (p.Val962Ala)
c.2246T>C (p.Val749Ala)
c.2864T>C (p.Val955Ala)
9g.137813472T>GCA375794316EHMT1c.3122T>G (p.Val1041Gly)
c.3029T>G (p.Val1010Gly)
c.3162T>G (n.3162T>G)
c.1016T>G (p.Val339Gly)
c.1979T>G (p.Val660Gly)
n.648T>G
c.3113T>G (p.Val1038Gly)
c.3104T>G (p.Val1035Gly)
c.3131T>G (p.Val1044Gly)
c.3128T>G (p.Val1043Gly)
c.3110T>G (p.Val1037Gly)
c.3053T>G (p.Val1018Gly)
c.2987T>G (p.Val996Gly)
c.1553T>G (p.Val518Gly)
c.905T>G (p.Val302Gly)
c.692T>G (p.Val231Gly)
c.2966T>G (p.Val989Gly)
c.3101T>G (p.Val1034Gly)
c.3107T>G (p.Val1036Gly)
c.3023T>G (p.Val1008Gly)
c.3008T>G (p.Val1003Gly)
c.2951T>G (p.Val984Gly)
c.2885T>G (p.Val962Gly)
c.2246T>G (p.Val749Gly)
c.2864T>G (p.Val955Gly)
9g.137813476_137813477delCA658657948EHMT1c.3126_3127del (p.Gln1043GlufsTer?)
c.3033_3034del (p.Gln1012GlufsTer?)
c.3166_3167del (n.3166_3167del)
c.1020_1021del (p.Gln341GlufsTer?)
c.1983_1984del (p.Gln662GlufsTer?)
n.652_653del
c.3117_3118del (p.Gln1040GlufsTer?)
c.3108_3109del (p.Gln1037GlufsTer?)
c.3135_3136del (p.Gln1046GlufsTer?)
c.3132_3133del (p.Gln1045GlufsTer?)
c.3114_3115del (p.Gln1039GlufsTer?)
c.3057_3058del (p.Gln1020GlufsTer?)
c.2991_2992del (p.Gln998GlufsTer?)
c.1557_1558del (p.Gln520GlufsTer?)
c.909_910del (p.Gln304GlufsTer?)
c.696_697del (p.Gln233GlufsTer?)
c.2970_2971del (p.Gln991GlufsTer?)
c.3105_3106del (p.Gln1036GlufsTer?)
c.3111_3112del (p.Gln1038GlufsTer?)
c.3027_3028del (p.Gln1010GlufsTer?)
c.3012_3013del (p.Gln1005GlufsTer?)
c.2955_2956del (p.Gln986GlufsTer?)
c.2889_2890del (p.Gln964GlufsTer?)
c.2250_2251del (p.Gln751GlufsTer?)
c.2868_2869del (p.Gln957GlufsTer?)
 ClinVar dbSNP
9g.137813473C>ACA207991EHMT1c.3123C>A (p.Val1041=)
c.3030C>A (p.Val1010=)
c.3163C>A (n.3163C>A)
c.1017C>A (p.Val339=)
c.1980C>A (p.Val660=)
n.649C>A
c.3114C>A (p.Val1038=)
c.3105C>A (p.Val1035=)
c.3132C>A (p.Val1044=)
c.3129C>A (p.Val1043=)
c.3111C>A (p.Val1037=)
c.3054C>A (p.Val1018=)
c.2988C>A (p.Val996=)
c.1554C>A (p.Val518=)
c.906C>A (p.Val302=)
c.693C>A (p.Val231=)
c.2967C>A (p.Val989=)
c.3102C>A (p.Val1034=)
c.3108C>A (p.Val1036=)
c.3024C>A (p.Val1008=)
c.3009C>A (p.Val1003=)
c.2952C>A (p.Val984=)
c.2886C>A (p.Val962=)
c.2247C>A (p.Val749=)
c.2865C>A (p.Val955=)
 ClinVar dbSNP
9g.137813473C=CA1884685907EHMT1c.3123C= (p.Val1041=)
c.3030C= (p.Val1010=)
c.3163C= (n.3163C=)
c.1017C= (p.Val339=)
c.1980C= (p.Val660=)
n.649C=
c.3114C= (p.Val1038=)
c.3105C= (p.Val1035=)
c.3132C= (p.Val1044=)
c.3129C= (p.Val1043=)
c.3111C= (p.Val1037=)
c.3054C= (p.Val1018=)
c.2988C= (p.Val996=)
c.1554C= (p.Val518=)
c.906C= (p.Val302=)
c.693C= (p.Val231=)
c.2967C= (p.Val989=)
c.3102C= (p.Val1034=)
c.3108C= (p.Val1036=)
c.3024C= (p.Val1008=)
c.3009C= (p.Val1003=)
c.2952C= (p.Val984=)
c.2886C= (p.Val962=)
c.2247C= (p.Val749=)
c.2865C= (p.Val955=)
9g.137813473C>GCA5375172EHMT1c.3123C>G (p.Val1041=)
c.3030C>G (p.Val1010=)
c.3163C>G (n.3163C>G)
c.1017C>G (p.Val339=)
c.1980C>G (p.Val660=)
n.649C>G
c.3114C>G (p.Val1038=)
c.3105C>G (p.Val1035=)
c.3132C>G (p.Val1044=)
c.3129C>G (p.Val1043=)
c.3111C>G (p.Val1037=)
c.3054C>G (p.Val1018=)
c.2988C>G (p.Val996=)
c.1554C>G (p.Val518=)
c.906C>G (p.Val302=)
c.693C>G (p.Val231=)
c.2967C>G (p.Val989=)
c.3102C>G (p.Val1034=)
c.3108C>G (p.Val1036=)
c.3024C>G (p.Val1008=)
c.3009C>G (p.Val1003=)
c.2952C>G (p.Val984=)
c.2886C>G (p.Val962=)
c.2247C>G (p.Val749=)
c.2865C>G (p.Val955=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813473C>TCA5375171EHMT1c.3123C>T (p.Val1041=)
c.3030C>T (p.Val1010=)
c.3163C>T (n.3163C>T)
c.1017C>T (p.Val339=)
c.1980C>T (p.Val660=)
n.649C>T
c.3114C>T (p.Val1038=)
c.3105C>T (p.Val1035=)
c.3132C>T (p.Val1044=)
c.3129C>T (p.Val1043=)
c.3111C>T (p.Val1037=)
c.3054C>T (p.Val1018=)
c.2988C>T (p.Val996=)
c.1554C>T (p.Val518=)
c.906C>T (p.Val302=)
c.693C>T (p.Val231=)
c.2967C>T (p.Val989=)
c.3102C>T (p.Val1034=)
c.3108C>T (p.Val1036=)
c.3024C>T (p.Val1008=)
c.3009C>T (p.Val1003=)
c.2952C>T (p.Val984=)
c.2886C>T (p.Val962=)
c.2247C>T (p.Val749=)
c.2865C>T (p.Val955=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813474T>ACA375794325EHMT1c.3124T>A (p.Ser1042Thr)
c.3031T>A (p.Ser1011Thr)
c.3164T>A (n.3164T>A)
c.1018T>A (p.Ser340Thr)
c.1981T>A (p.Ser661Thr)
n.650T>A
c.3115T>A (p.Ser1039Thr)
c.3106T>A (p.Ser1036Thr)
c.3133T>A (p.Ser1045Thr)
c.3130T>A (p.Ser1044Thr)
c.3112T>A (p.Ser1038Thr)
c.3055T>A (p.Ser1019Thr)
c.2989T>A (p.Ser997Thr)
c.1555T>A (p.Ser519Thr)
c.907T>A (p.Ser303Thr)
c.694T>A (p.Ser232Thr)
c.2968T>A (p.Ser990Thr)
c.3103T>A (p.Ser1035Thr)
c.3109T>A (p.Ser1037Thr)
c.3025T>A (p.Ser1009Thr)
c.3010T>A (p.Ser1004Thr)
c.2953T>A (p.Ser985Thr)
c.2887T>A (p.Ser963Thr)
c.2248T>A (p.Ser750Thr)
c.2866T>A (p.Ser956Thr)
9g.137813474T>CCA375794330EHMT1c.3124T>C (p.Ser1042Pro)
c.3031T>C (p.Ser1011Pro)
c.3164T>C (n.3164T>C)
c.1018T>C (p.Ser340Pro)
c.1981T>C (p.Ser661Pro)
n.650T>C
c.3115T>C (p.Ser1039Pro)
c.3106T>C (p.Ser1036Pro)
c.3133T>C (p.Ser1045Pro)
c.3130T>C (p.Ser1044Pro)
c.3112T>C (p.Ser1038Pro)
c.3055T>C (p.Ser1019Pro)
c.2989T>C (p.Ser997Pro)
c.1555T>C (p.Ser519Pro)
c.907T>C (p.Ser303Pro)
c.694T>C (p.Ser232Pro)
c.2968T>C (p.Ser990Pro)
c.3103T>C (p.Ser1035Pro)
c.3109T>C (p.Ser1037Pro)
c.3025T>C (p.Ser1009Pro)
c.3010T>C (p.Ser1004Pro)
c.2953T>C (p.Ser985Pro)
c.2887T>C (p.Ser963Pro)
c.2248T>C (p.Ser750Pro)
c.2866T>C (p.Ser956Pro)
9g.137813474T>GCA375794328EHMT1c.3124T>G (p.Ser1042Ala)
c.3031T>G (p.Ser1011Ala)
c.3164T>G (n.3164T>G)
c.1018T>G (p.Ser340Ala)
c.1981T>G (p.Ser661Ala)
n.650T>G
c.3115T>G (p.Ser1039Ala)
c.3106T>G (p.Ser1036Ala)
c.3133T>G (p.Ser1045Ala)
c.3130T>G (p.Ser1044Ala)
c.3112T>G (p.Ser1038Ala)
c.3055T>G (p.Ser1019Ala)
c.2989T>G (p.Ser997Ala)
c.1555T>G (p.Ser519Ala)
c.907T>G (p.Ser303Ala)
c.694T>G (p.Ser232Ala)
c.2968T>G (p.Ser990Ala)
c.3103T>G (p.Ser1035Ala)
c.3109T>G (p.Ser1037Ala)
c.3025T>G (p.Ser1009Ala)
c.3010T>G (p.Ser1004Ala)
c.2953T>G (p.Ser985Ala)
c.2887T>G (p.Ser963Ala)
c.2248T>G (p.Ser750Ala)
c.2866T>G (p.Ser956Ala)
9g.137813475C>ACA375794331EHMT1c.3125C>A (p.Ser1042Tyr)
c.3032C>A (p.Ser1011Tyr)
c.3165C>A (n.3165C>A)
c.1019C>A (p.Ser340Tyr)
c.1982C>A (p.Ser661Tyr)
n.651C>A
c.3116C>A (p.Ser1039Tyr)
c.3107C>A (p.Ser1036Tyr)
c.3134C>A (p.Ser1045Tyr)
c.3131C>A (p.Ser1044Tyr)
c.3113C>A (p.Ser1038Tyr)
c.3056C>A (p.Ser1019Tyr)
c.2990C>A (p.Ser997Tyr)
c.1556C>A (p.Ser519Tyr)
c.908C>A (p.Ser303Tyr)
c.695C>A (p.Ser232Tyr)
c.2969C>A (p.Ser990Tyr)
c.3104C>A (p.Ser1035Tyr)
c.3110C>A (p.Ser1037Tyr)
c.3026C>A (p.Ser1009Tyr)
c.3011C>A (p.Ser1004Tyr)
c.2954C>A (p.Ser985Tyr)
c.2888C>A (p.Ser963Tyr)
c.2249C>A (p.Ser750Tyr)
c.2867C>A (p.Ser956Tyr)
9g.137813475C=CA1884685908EHMT1c.3125C= (p.Ser1042=)
c.3032C= (p.Ser1011=)
c.3165C= (n.3165C=)
c.1019C= (p.Ser340=)
c.1982C= (p.Ser661=)
n.651C=
c.3116C= (p.Ser1039=)
c.3107C= (p.Ser1036=)
c.3134C= (p.Ser1045=)
c.3131C= (p.Ser1044=)
c.3113C= (p.Ser1038=)
c.3056C= (p.Ser1019=)
c.2990C= (p.Ser997=)
c.1556C= (p.Ser519=)
c.908C= (p.Ser303=)
c.695C= (p.Ser232=)
c.2969C= (p.Ser990=)
c.3104C= (p.Ser1035=)
c.3110C= (p.Ser1037=)
c.3026C= (p.Ser1009=)
c.3011C= (p.Ser1004=)
c.2954C= (p.Ser985=)
c.2888C= (p.Ser963=)
c.2249C= (p.Ser750=)
c.2867C= (p.Ser956=)
9g.137813475C>GCA375794342EHMT1c.3125C>G (p.Ser1042Cys)
c.3032C>G (p.Ser1011Cys)
c.3165C>G (n.3165C>G)
c.1019C>G (p.Ser340Cys)
c.1982C>G (p.Ser661Cys)
n.651C>G
c.3116C>G (p.Ser1039Cys)
c.3107C>G (p.Ser1036Cys)
c.3134C>G (p.Ser1045Cys)
c.3131C>G (p.Ser1044Cys)
c.3113C>G (p.Ser1038Cys)
c.3056C>G (p.Ser1019Cys)
c.2990C>G (p.Ser997Cys)
c.1556C>G (p.Ser519Cys)
c.908C>G (p.Ser303Cys)
c.695C>G (p.Ser232Cys)
c.2969C>G (p.Ser990Cys)
c.3104C>G (p.Ser1035Cys)
c.3110C>G (p.Ser1037Cys)
c.3026C>G (p.Ser1009Cys)
c.3011C>G (p.Ser1004Cys)
c.2954C>G (p.Ser985Cys)
c.2888C>G (p.Ser963Cys)
c.2249C>G (p.Ser750Cys)
c.2867C>G (p.Ser956Cys)
 dbSNP gnomAD v2
9g.137813475C>TCA375794340EHMT1c.3125C>T (p.Ser1042Phe)
c.3032C>T (p.Ser1011Phe)
c.3165C>T (n.3165C>T)
c.1019C>T (p.Ser340Phe)
c.1982C>T (p.Ser661Phe)
n.651C>T
c.3116C>T (p.Ser1039Phe)
c.3107C>T (p.Ser1036Phe)
c.3134C>T (p.Ser1045Phe)
c.3131C>T (p.Ser1044Phe)
c.3113C>T (p.Ser1038Phe)
c.3056C>T (p.Ser1019Phe)
c.2990C>T (p.Ser997Phe)
c.1556C>T (p.Ser519Phe)
c.908C>T (p.Ser303Phe)
c.695C>T (p.Ser232Phe)
c.2969C>T (p.Ser990Phe)
c.3104C>T (p.Ser1035Phe)
c.3110C>T (p.Ser1037Phe)
c.3026C>T (p.Ser1009Phe)
c.3011C>T (p.Ser1004Phe)
c.2954C>T (p.Ser985Phe)
c.2888C>T (p.Ser963Phe)
c.2249C>T (p.Ser750Phe)
c.2867C>T (p.Ser956Phe)
9g.137813476T>ACA468161438EHMT1c.3126T>A (p.Ser1042=)
c.3033T>A (p.Ser1011=)
c.3166T>A (n.3166T>A)
c.1020T>A (p.Ser340=)
c.1983T>A (p.Ser661=)
n.652T>A
c.3117T>A (p.Ser1039=)
c.3108T>A (p.Ser1036=)
c.3135T>A (p.Ser1045=)
c.3132T>A (p.Ser1044=)
c.3114T>A (p.Ser1038=)
c.3057T>A (p.Ser1019=)
c.2991T>A (p.Ser997=)
c.1557T>A (p.Ser519=)
c.909T>A (p.Ser303=)
c.696T>A (p.Ser232=)
c.2970T>A (p.Ser990=)
c.3105T>A (p.Ser1035=)
c.3111T>A (p.Ser1037=)
c.3027T>A (p.Ser1009=)
c.3012T>A (p.Ser1004=)
c.2955T>A (p.Ser985=)
c.2889T>A (p.Ser963=)
c.2250T>A (p.Ser750=)
c.2868T>A (p.Ser956=)
9g.137813476T>CCA468161439EHMT1c.3126T>C (p.Ser1042=)
c.3033T>C (p.Ser1011=)
c.3166T>C (n.3166T>C)
c.1020T>C (p.Ser340=)
c.1983T>C (p.Ser661=)
n.652T>C
c.3117T>C (p.Ser1039=)
c.3108T>C (p.Ser1036=)
c.3135T>C (p.Ser1045=)
c.3132T>C (p.Ser1044=)
c.3114T>C (p.Ser1038=)
c.3057T>C (p.Ser1019=)
c.2991T>C (p.Ser997=)
c.1557T>C (p.Ser519=)
c.909T>C (p.Ser303=)
c.696T>C (p.Ser232=)
c.2970T>C (p.Ser990=)
c.3105T>C (p.Ser1035=)
c.3111T>C (p.Ser1037=)
c.3027T>C (p.Ser1009=)
c.3012T>C (p.Ser1004=)
c.2955T>C (p.Ser985=)
c.2889T>C (p.Ser963=)
c.2250T>C (p.Ser750=)
c.2868T>C (p.Ser956=)
9g.137813476T>GCA468161440EHMT1c.3126T>G (p.Ser1042=)
c.3033T>G (p.Ser1011=)
c.3166T>G (n.3166T>G)
c.1020T>G (p.Ser340=)
c.1983T>G (p.Ser661=)
n.652T>G
c.3117T>G (p.Ser1039=)
c.3108T>G (p.Ser1036=)
c.3135T>G (p.Ser1045=)
c.3132T>G (p.Ser1044=)
c.3114T>G (p.Ser1038=)
c.3057T>G (p.Ser1019=)
c.2991T>G (p.Ser997=)
c.1557T>G (p.Ser519=)
c.909T>G (p.Ser303=)
c.696T>G (p.Ser232=)
c.2970T>G (p.Ser990=)
c.3105T>G (p.Ser1035=)
c.3111T>G (p.Ser1037=)
c.3027T>G (p.Ser1009=)
c.3012T>G (p.Ser1004=)
c.2955T>G (p.Ser985=)
c.2889T>G (p.Ser963=)
c.2250T>G (p.Ser750=)
c.2868T>G (p.Ser956=)
9g.137813477C>ACA375794343EHMT1c.3127C>A (p.Gln1043Lys)
c.3034C>A (p.Gln1012Lys)
c.3167C>A (n.3167C>A)
c.1021C>A (p.Gln341Lys)
c.1984C>A (p.Gln662Lys)
n.653C>A
c.3118C>A (p.Gln1040Lys)
c.3109C>A (p.Gln1037Lys)
c.3136C>A (p.Gln1046Lys)
c.3133C>A (p.Gln1045Lys)
c.3115C>A (p.Gln1039Lys)
c.3058C>A (p.Gln1020Lys)
c.2992C>A (p.Gln998Lys)
c.1558C>A (p.Gln520Lys)
c.910C>A (p.Gln304Lys)
c.697C>A (p.Gln233Lys)
c.2971C>A (p.Gln991Lys)
c.3106C>A (p.Gln1036Lys)
c.3112C>A (p.Gln1038Lys)
c.3028C>A (p.Gln1010Lys)
c.3013C>A (p.Gln1005Lys)
c.2956C>A (p.Gln986Lys)
c.2890C>A (p.Gln964Lys)
c.2251C>A (p.Gln751Lys)
c.2869C>A (p.Gln957Lys)
9g.137813477C=CA1884685909EHMT1c.3127C= (p.Gln1043=)
c.3034C= (p.Gln1012=)
c.3167C= (n.3167C=)
c.1021C= (p.Gln341=)
c.1984C= (p.Gln662=)
n.653C=
c.3118C= (p.Gln1040=)
c.3109C= (p.Gln1037=)
c.3136C= (p.Gln1046=)
c.3133C= (p.Gln1045=)
c.3115C= (p.Gln1039=)
c.3058C= (p.Gln1020=)
c.2992C= (p.Gln998=)
c.1558C= (p.Gln520=)
c.910C= (p.Gln304=)
c.697C= (p.Gln233=)
c.2971C= (p.Gln991=)
c.3106C= (p.Gln1036=)
c.3112C= (p.Gln1038=)
c.3028C= (p.Gln1010=)
c.3013C= (p.Gln1005=)
c.2956C= (p.Gln986=)
c.2890C= (p.Gln964=)
c.2251C= (p.Gln751=)
c.2869C= (p.Gln957=)
9g.137813477C>GCA375794347EHMT1c.3127C>G (p.Gln1043Glu)
c.3034C>G (p.Gln1012Glu)
c.3167C>G (n.3167C>G)
c.1021C>G (p.Gln341Glu)
c.1984C>G (p.Gln662Glu)
n.653C>G
c.3118C>G (p.Gln1040Glu)
c.3109C>G (p.Gln1037Glu)
c.3136C>G (p.Gln1046Glu)
c.3133C>G (p.Gln1045Glu)
c.3115C>G (p.Gln1039Glu)
c.3058C>G (p.Gln1020Glu)
c.2992C>G (p.Gln998Glu)
c.1558C>G (p.Gln520Glu)
c.910C>G (p.Gln304Glu)
c.697C>G (p.Gln233Glu)
c.2971C>G (p.Gln991Glu)
c.3106C>G (p.Gln1036Glu)
c.3112C>G (p.Gln1038Glu)
c.3028C>G (p.Gln1010Glu)
c.3013C>G (p.Gln1005Glu)
c.2956C>G (p.Gln986Glu)
c.2890C>G (p.Gln964Glu)
c.2251C>G (p.Gln751Glu)
c.2869C>G (p.Gln957Glu)
9g.137813477C>TCA16618820EHMT1c.3127C>T (p.Gln1043Ter)
c.3034C>T (p.Gln1012Ter)
c.3167C>T (n.3167C>T)
c.1021C>T (p.Gln341Ter)
c.1984C>T (p.Gln662Ter)
n.653C>T
c.3118C>T (p.Gln1040Ter)
c.3109C>T (p.Gln1037Ter)
c.3136C>T (p.Gln1046Ter)
c.3133C>T (p.Gln1045Ter)
c.3115C>T (p.Gln1039Ter)
c.3058C>T (p.Gln1020Ter)
c.2992C>T (p.Gln998Ter)
c.1558C>T (p.Gln520Ter)
c.910C>T (p.Gln304Ter)
c.697C>T (p.Gln233Ter)
c.2971C>T (p.Gln991Ter)
c.3106C>T (p.Gln1036Ter)
c.3112C>T (p.Gln1038Ter)
c.3028C>T (p.Gln1010Ter)
c.3013C>T (p.Gln1005Ter)
c.2956C>T (p.Gln986Ter)
c.2890C>T (p.Gln964Ter)
c.2251C>T (p.Gln751Ter)
c.2869C>T (p.Gln957Ter)
 ClinVar dbSNP

Number of alleles fetched