Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.88731693_88731698delCA1562203587MEF2Cc.432+33_432+38del (n.432+33_432+38del)
c.810+33_810+38del (n.810+33_810+38del)
n.747+33_747+38del
c.801+33_801+38del (n.801+33_801+38del)
c.864+33_864+38del (n.864+33_864+38del)
c.804+33_804+38del (n.804+33_804+38del)
n.261_266del
c.666+33_666+38del (n.666+33_666+38del)
c.99+33_99+38del (n.99+33_99+38del)
c.219+33_219+38del (n.219+33_219+38del)
c.384+33_384+38del (n.384+33_384+38del)
 dbSNP gnomAD v4
5g.88731697C>ACA2674536489MEF2Cc.432+32G>T (n.432+32G>T)
c.810+32G>T (n.810+32G>T)
n.747+32G>T
c.801+32G>T (n.801+32G>T)
c.864+32G>T (n.864+32G>T)
c.804+32G>T (n.804+32G>T)
n.260G>T
c.666+32G>T (n.666+32G>T)
c.99+32G>T (n.99+32G>T)
c.219+32G>T (n.219+32G>T)
c.384+32G>T (n.384+32G>T)
 gnomAD v4
5g.88731697C>TCA2578356090MEF2Cc.432+32G>A (n.432+32G>A)
c.810+32G>A (n.810+32G>A)
n.747+32G>A
c.801+32G>A (n.801+32G>A)
c.864+32G>A (n.864+32G>A)
c.804+32G>A (n.804+32G>A)
n.260G>A
c.666+32G>A (n.666+32G>A)
c.99+32G>A (n.99+32G>A)
c.219+32G>A (n.219+32G>A)
c.384+32G>A (n.384+32G>A)
5g.88731700T>CCA2502232916MEF2Cc.432+29A>G (n.432+29A>G)
c.810+29A>G (n.810+29A>G)
n.747+29A>G
c.801+29A>G (n.801+29A>G)
c.864+29A>G (n.864+29A>G)
c.804+29A>G (n.804+29A>G)
n.257A>G
c.666+29A>G (n.666+29A>G)
c.99+29A>G (n.99+29A>G)
c.219+29A>G (n.219+29A>G)
c.384+29A>G (n.384+29A>G)
 gnomAD v4
5g.88731701A=CA1562203591MEF2Cc.432+28T= (n.432+28T=)
c.810+28T= (n.810+28T=)
n.747+28T=
c.801+28T= (n.801+28T=)
c.864+28T= (n.864+28T=)
c.804+28T= (n.804+28T=)
n.256T=
c.666+28T= (n.666+28T=)
c.99+28T= (n.99+28T=)
c.219+28T= (n.219+28T=)
c.384+28T= (n.384+28T=)
5g.88731701A>GCA561261187MEF2Cc.432+28T>C (n.432+28T>C)
c.810+28T>C (n.810+28T>C)
n.747+28T>C
c.801+28T>C (n.801+28T>C)
c.864+28T>C (n.864+28T>C)
c.804+28T>C (n.804+28T>C)
n.256T>C
c.666+28T>C (n.666+28T>C)
c.99+28T>C (n.99+28T>C)
c.219+28T>C (n.219+28T>C)
c.384+28T>C (n.384+28T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.88731705A=CA1562203592MEF2Cc.432+24T= (n.432+24T=)
c.810+24T= (n.810+24T=)
n.747+24T=
c.801+24T= (n.801+24T=)
c.864+24T= (n.864+24T=)
c.804+24T= (n.804+24T=)
n.252T=
c.666+24T= (n.666+24T=)
c.99+24T= (n.99+24T=)
c.219+24T= (n.219+24T=)
c.384+24T= (n.384+24T=)
5g.88731705A>GCA3337247MEF2Cc.432+24T>C (n.432+24T>C)
c.810+24T>C (n.810+24T>C)
n.747+24T>C
c.801+24T>C (n.801+24T>C)
c.864+24T>C (n.864+24T>C)
c.804+24T>C (n.804+24T>C)
n.252T>C
c.666+24T>C (n.666+24T>C)
c.99+24T>C (n.99+24T>C)
c.219+24T>C (n.219+24T>C)
c.384+24T>C (n.384+24T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.88731706T>GCA2674536490MEF2Cc.432+23A>C (n.432+23A>C)
c.810+23A>C (n.810+23A>C)
n.747+23A>C
c.801+23A>C (n.801+23A>C)
c.864+23A>C (n.864+23A>C)
c.804+23A>C (n.804+23A>C)
n.251A>C
c.666+23A>C (n.666+23A>C)
c.99+23A>C (n.99+23A>C)
c.219+23A>C (n.219+23A>C)
c.384+23A>C (n.384+23A>C)
 gnomAD v4
5g.88731707T>CCA2739886225MEF2Cc.432+22A>G (n.432+22A>G)
c.810+22A>G (n.810+22A>G)
n.747+22A>G
c.801+22A>G (n.801+22A>G)
c.864+22A>G (n.864+22A>G)
c.804+22A>G (n.804+22A>G)
n.250A>G
c.666+22A>G (n.666+22A>G)
c.99+22A>G (n.99+22A>G)
c.219+22A>G (n.219+22A>G)
c.384+22A>G (n.384+22A>G)
5g.88731707T>GCA2739886226MEF2Cc.432+22A>C (n.432+22A>C)
c.810+22A>C (n.810+22A>C)
n.747+22A>C
c.801+22A>C (n.801+22A>C)
c.864+22A>C (n.864+22A>C)
c.804+22A>C (n.804+22A>C)
n.250A>C
c.666+22A>C (n.666+22A>C)
c.99+22A>C (n.99+22A>C)
c.219+22A>C (n.219+22A>C)
c.384+22A>C (n.384+22A>C)
5g.88731708T>ACA2739886227MEF2Cc.432+21A>T (n.432+21A>T)
c.810+21A>T (n.810+21A>T)
n.747+21A>T
c.801+21A>T (n.801+21A>T)
c.864+21A>T (n.864+21A>T)
c.804+21A>T (n.804+21A>T)
n.249A>T
c.666+21A>T (n.666+21A>T)
c.99+21A>T (n.99+21A>T)
c.219+21A>T (n.219+21A>T)
c.384+21A>T (n.384+21A>T)
5g.88731708T>GCA2739886228MEF2Cc.432+21A>C (n.432+21A>C)
c.810+21A>C (n.810+21A>C)
n.747+21A>C
c.801+21A>C (n.801+21A>C)
c.864+21A>C (n.864+21A>C)
c.804+21A>C (n.804+21A>C)
n.249A>C
c.666+21A>C (n.666+21A>C)
c.99+21A>C (n.99+21A>C)
c.219+21A>C (n.219+21A>C)
c.384+21A>C (n.384+21A>C)
5g.88731709A>GCA2739886229MEF2Cc.432+20T>C (n.432+20T>C)
c.810+20T>C (n.810+20T>C)
n.747+20T>C
c.801+20T>C (n.801+20T>C)
c.864+20T>C (n.864+20T>C)
c.804+20T>C (n.804+20T>C)
n.248T>C
c.666+20T>C (n.666+20T>C)
c.99+20T>C (n.99+20T>C)
c.219+20T>C (n.219+20T>C)
c.384+20T>C (n.384+20T>C)
5g.88731710A>CCA2739886230MEF2Cc.432+19T>G (n.432+19T>G)
c.810+19T>G (n.810+19T>G)
n.747+19T>G
c.801+19T>G (n.801+19T>G)
c.864+19T>G (n.864+19T>G)
c.804+19T>G (n.804+19T>G)
n.247T>G
c.666+19T>G (n.666+19T>G)
c.99+19T>G (n.99+19T>G)
c.219+19T>G (n.219+19T>G)
c.384+19T>G (n.384+19T>G)
5g.88731710A>GCA2767370244MEF2Cc.432+19T>C (n.432+19T>C)
c.810+19T>C (n.810+19T>C)
n.747+19T>C
c.801+19T>C (n.801+19T>C)
c.864+19T>C (n.864+19T>C)
c.804+19T>C (n.804+19T>C)
n.247T>C
c.666+19T>C (n.666+19T>C)
c.99+19T>C (n.99+19T>C)
c.219+19T>C (n.219+19T>C)
c.384+19T>C (n.384+19T>C)
5g.88731710A>TCA645549183MEF2Cc.432+19T>A (n.432+19T>A)
c.810+19T>A (n.810+19T>A)
n.747+19T>A
c.801+19T>A (n.801+19T>A)
c.864+19T>A (n.864+19T>A)
c.804+19T>A (n.804+19T>A)
n.247T>A
c.666+19T>A (n.666+19T>A)
c.99+19T>A (n.99+19T>A)
c.219+19T>A (n.219+19T>A)
c.384+19T>A (n.384+19T>A)
 COSMIC
5g.88731711A>CCA2739886231MEF2Cc.432+18T>G (n.432+18T>G)
c.810+18T>G (n.810+18T>G)
n.747+18T>G
c.801+18T>G (n.801+18T>G)
c.864+18T>G (n.864+18T>G)
c.804+18T>G (n.804+18T>G)
n.246T>G
c.666+18T>G (n.666+18T>G)
c.99+18T>G (n.99+18T>G)
c.219+18T>G (n.219+18T>G)
c.384+18T>G (n.384+18T>G)
5g.88731712A>CCA2739886232MEF2Cc.432+17T>G (n.432+17T>G)
c.810+17T>G (n.810+17T>G)
n.747+17T>G
c.801+17T>G (n.801+17T>G)
c.864+17T>G (n.864+17T>G)
c.804+17T>G (n.804+17T>G)
n.245T>G
c.666+17T>G (n.666+17T>G)
c.99+17T>G (n.99+17T>G)
c.219+17T>G (n.219+17T>G)
c.384+17T>G (n.384+17T>G)
5g.88731712A>GCA2578356091MEF2Cc.432+17T>C (n.432+17T>C)
c.810+17T>C (n.810+17T>C)
n.747+17T>C
c.801+17T>C (n.801+17T>C)
c.864+17T>C (n.864+17T>C)
c.804+17T>C (n.804+17T>C)
n.245T>C
c.666+17T>C (n.666+17T>C)
c.99+17T>C (n.99+17T>C)
c.219+17T>C (n.219+17T>C)
c.384+17T>C (n.384+17T>C)
 gnomAD v4
5g.88731712A>TCA2739886233MEF2Cc.432+17T>A (n.432+17T>A)
c.810+17T>A (n.810+17T>A)
n.747+17T>A
c.801+17T>A (n.801+17T>A)
c.864+17T>A (n.864+17T>A)
c.804+17T>A (n.804+17T>A)
n.245T>A
c.666+17T>A (n.666+17T>A)
c.99+17T>A (n.99+17T>A)
c.219+17T>A (n.219+17T>A)
c.384+17T>A (n.384+17T>A)
5g.88731713T>ACA2739886234MEF2Cc.432+16A>T (n.432+16A>T)
c.810+16A>T (n.810+16A>T)
n.747+16A>T
c.801+16A>T (n.801+16A>T)
c.864+16A>T (n.864+16A>T)
c.804+16A>T (n.804+16A>T)
n.244A>T
c.666+16A>T (n.666+16A>T)
c.99+16A>T (n.99+16A>T)
c.219+16A>T (n.219+16A>T)
c.384+16A>T (n.384+16A>T)
5g.88731713T>CCA3337248MEF2Cc.432+16A>G (n.432+16A>G)
c.810+16A>G (n.810+16A>G)
n.747+16A>G
c.801+16A>G (n.801+16A>G)
c.864+16A>G (n.864+16A>G)
c.804+16A>G (n.804+16A>G)
n.244A>G
c.666+16A>G (n.666+16A>G)
c.99+16A>G (n.99+16A>G)
c.219+16A>G (n.219+16A>G)
c.384+16A>G (n.384+16A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.88731713T>GCA2739886235MEF2Cc.432+16A>C (n.432+16A>C)
c.810+16A>C (n.810+16A>C)
n.747+16A>C
c.801+16A>C (n.801+16A>C)
c.864+16A>C (n.864+16A>C)
c.804+16A>C (n.804+16A>C)
n.244A>C
c.666+16A>C (n.666+16A>C)
c.99+16A>C (n.99+16A>C)
c.219+16A>C (n.219+16A>C)
c.384+16A>C (n.384+16A>C)
5g.88731713T=CA1562203593MEF2Cc.432+16A= (n.432+16A=)
c.810+16A= (n.810+16A=)
n.747+16A=
c.801+16A= (n.801+16A=)
c.864+16A= (n.864+16A=)
c.804+16A= (n.804+16A=)
n.244A=
c.666+16A= (n.666+16A=)
c.99+16A= (n.99+16A=)
c.219+16A= (n.219+16A=)
c.384+16A= (n.384+16A=)
5g.88731713_88731714insTCCA2674536491MEF2Cc.432+15_432+16insGA (n.432+15_432+16insGA)
c.810+15_810+16insGA (n.810+15_810+16insGA)
n.747+15_747+16insGA
c.801+15_801+16insGA (n.801+15_801+16insGA)
c.864+15_864+16insGA (n.864+15_864+16insGA)
c.804+15_804+16insGA (n.804+15_804+16insGA)
n.243_244insGA
c.666+15_666+16insGA (n.666+15_666+16insGA)
c.99+15_99+16insGA (n.99+15_99+16insGA)
c.219+15_219+16insGA (n.219+15_219+16insGA)
c.384+15_384+16insGA (n.384+15_384+16insGA)
 gnomAD v4
5g.88731714G>ACA561261188MEF2Cc.432+15C>T (n.432+15C>T)
c.810+15C>T (n.810+15C>T)
n.747+15C>T
c.801+15C>T (n.801+15C>T)
c.864+15C>T (n.864+15C>T)
c.804+15C>T (n.804+15C>T)
n.243C>T
c.666+15C>T (n.666+15C>T)
c.99+15C>T (n.99+15C>T)
c.219+15C>T (n.219+15C>T)
c.384+15C>T (n.384+15C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.88731714G=CA1562203594MEF2Cc.432+15C= (n.432+15C=)
c.810+15C= (n.810+15C=)
n.747+15C=
c.801+15C= (n.801+15C=)
c.864+15C= (n.864+15C=)
c.804+15C= (n.804+15C=)
n.243C=
c.666+15C= (n.666+15C=)
c.99+15C= (n.99+15C=)
c.219+15C= (n.219+15C=)
c.384+15C= (n.384+15C=)
5g.88731715T>ACA2739886236MEF2Cc.432+14A>T (n.432+14A>T)
c.810+14A>T (n.810+14A>T)
n.747+14A>T
c.801+14A>T (n.801+14A>T)
c.864+14A>T (n.864+14A>T)
c.804+14A>T (n.804+14A>T)
n.242A>T
c.666+14A>T (n.666+14A>T)
c.99+14A>T (n.99+14A>T)
c.219+14A>T (n.219+14A>T)
c.384+14A>T (n.384+14A>T)
5g.88731715T>CCA3337249MEF2Cc.432+14A>G (n.432+14A>G)
c.810+14A>G (n.810+14A>G)
n.747+14A>G
c.801+14A>G (n.801+14A>G)
c.864+14A>G (n.864+14A>G)
c.804+14A>G (n.804+14A>G)
n.242A>G
c.666+14A>G (n.666+14A>G)
c.99+14A>G (n.99+14A>G)
c.219+14A>G (n.219+14A>G)
c.384+14A>G (n.384+14A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.88731715T>GCA2739886237MEF2Cc.432+14A>C (n.432+14A>C)
c.810+14A>C (n.810+14A>C)
n.747+14A>C
c.801+14A>C (n.801+14A>C)
c.864+14A>C (n.864+14A>C)
c.804+14A>C (n.804+14A>C)
n.242A>C
c.666+14A>C (n.666+14A>C)
c.99+14A>C (n.99+14A>C)
c.219+14A>C (n.219+14A>C)
c.384+14A>C (n.384+14A>C)
5g.88731715T=CA1562203595MEF2Cc.432+14A= (n.432+14A=)
c.810+14A= (n.810+14A=)
n.747+14A=
c.801+14A= (n.801+14A=)
c.864+14A= (n.864+14A=)
c.804+14A= (n.804+14A=)
n.242A=
c.666+14A= (n.666+14A=)
c.99+14A= (n.99+14A=)
c.219+14A= (n.219+14A=)
c.384+14A= (n.384+14A=)
5g.88731716A=CA1562203596MEF2Cc.432+13T= (n.432+13T=)
c.810+13T= (n.810+13T=)
n.747+13T=
c.801+13T= (n.801+13T=)
c.864+13T= (n.864+13T=)
c.804+13T= (n.804+13T=)
n.241T=
c.666+13T= (n.666+13T=)
c.99+13T= (n.99+13T=)
c.219+13T= (n.219+13T=)
c.384+13T= (n.384+13T=)
5g.88731716A>CCA561261189MEF2Cc.432+13T>G (n.432+13T>G)
c.810+13T>G (n.810+13T>G)
n.747+13T>G
c.801+13T>G (n.801+13T>G)
c.864+13T>G (n.864+13T>G)
c.804+13T>G (n.804+13T>G)
n.241T>G
c.666+13T>G (n.666+13T>G)
c.99+13T>G (n.99+13T>G)
c.219+13T>G (n.219+13T>G)
c.384+13T>G (n.384+13T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.88731716A>GCA445369710MEF2Cc.432+13T>C (n.432+13T>C)
c.810+13T>C (n.810+13T>C)
n.747+13T>C
c.801+13T>C (n.801+13T>C)
c.864+13T>C (n.864+13T>C)
c.804+13T>C (n.804+13T>C)
n.241T>C
c.666+13T>C (n.666+13T>C)
c.99+13T>C (n.99+13T>C)
c.219+13T>C (n.219+13T>C)
c.384+13T>C (n.384+13T>C)
 COSMIC
5g.88731716A>TCA2739886238MEF2Cc.432+13T>A (n.432+13T>A)
c.810+13T>A (n.810+13T>A)
n.747+13T>A
c.801+13T>A (n.801+13T>A)
c.864+13T>A (n.864+13T>A)
c.804+13T>A (n.804+13T>A)
n.241T>A
c.666+13T>A (n.666+13T>A)
c.99+13T>A (n.99+13T>A)
c.219+13T>A (n.219+13T>A)
c.384+13T>A (n.384+13T>A)
5g.88731717G>ACA2501252449MEF2Cc.432+12C>T (n.432+12C>T)
c.810+12C>T (n.810+12C>T)
n.747+12C>T
c.801+12C>T (n.801+12C>T)
c.864+12C>T (n.864+12C>T)
c.804+12C>T (n.804+12C>T)
n.240C>T
c.666+12C>T (n.666+12C>T)
c.99+12C>T (n.99+12C>T)
c.219+12C>T (n.219+12C>T)
c.384+12C>T (n.384+12C>T)
 gnomAD v4
5g.88731717G>CCA2739886240MEF2Cc.432+12C>G (n.432+12C>G)
c.810+12C>G (n.810+12C>G)
n.747+12C>G
c.801+12C>G (n.801+12C>G)
c.864+12C>G (n.864+12C>G)
c.804+12C>G (n.804+12C>G)
n.240C>G
c.666+12C>G (n.666+12C>G)
c.99+12C>G (n.99+12C>G)
c.219+12C>G (n.219+12C>G)
c.384+12C>G (n.384+12C>G)
5g.88731717G>TCA2739886239MEF2Cc.432+12C>A (n.432+12C>A)
c.810+12C>A (n.810+12C>A)
n.747+12C>A
c.801+12C>A (n.801+12C>A)
c.864+12C>A (n.864+12C>A)
c.804+12C>A (n.804+12C>A)
n.240C>A
c.666+12C>A (n.666+12C>A)
c.99+12C>A (n.99+12C>A)
c.219+12C>A (n.219+12C>A)
c.384+12C>A (n.384+12C>A)
5g.88731718T>ACA2739886241MEF2Cc.432+11A>T (n.432+11A>T)
c.810+11A>T (n.810+11A>T)
n.747+11A>T
c.801+11A>T (n.801+11A>T)
c.864+11A>T (n.864+11A>T)
c.804+11A>T (n.804+11A>T)
n.239A>T
c.666+11A>T (n.666+11A>T)
c.99+11A>T (n.99+11A>T)
c.219+11A>T (n.219+11A>T)
c.384+11A>T (n.384+11A>T)
5g.88731718T>CCA2739886242MEF2Cc.432+11A>G (n.432+11A>G)
c.810+11A>G (n.810+11A>G)
n.747+11A>G
c.801+11A>G (n.801+11A>G)
c.864+11A>G (n.864+11A>G)
c.804+11A>G (n.804+11A>G)
n.239A>G
c.666+11A>G (n.666+11A>G)
c.99+11A>G (n.99+11A>G)
c.219+11A>G (n.219+11A>G)
c.384+11A>G (n.384+11A>G)
5g.88731718T>GCA2739886243MEF2Cc.432+11A>C (n.432+11A>C)
c.810+11A>C (n.810+11A>C)
n.747+11A>C
c.801+11A>C (n.801+11A>C)
c.864+11A>C (n.864+11A>C)
c.804+11A>C (n.804+11A>C)
n.239A>C
c.666+11A>C (n.666+11A>C)
c.99+11A>C (n.99+11A>C)
c.219+11A>C (n.219+11A>C)
c.384+11A>C (n.384+11A>C)
5g.88731721dupCA2507457331MEF2Cc.432+11dup (n.432+11dup)
c.810+11dup (n.810+11dup)
n.747+11dup
c.801+11dup (n.801+11dup)
c.864+11dup (n.864+11dup)
c.804+11dup (n.804+11dup)
n.239dup
c.666+11dup (n.666+11dup)
c.99+11dup (n.99+11dup)
c.219+11dup (n.219+11dup)
c.384+11dup (n.384+11dup)
 gnomAD v4
5g.88731719T>ACA172592MEF2Cc.432+10A>T (n.432+10A>T)
c.810+10A>T (n.810+10A>T)
n.747+10A>T
c.801+10A>T (n.801+10A>T)
c.864+10A>T (n.864+10A>T)
c.804+10A>T (n.804+10A>T)
n.238A>T
c.666+10A>T (n.666+10A>T)
c.99+10A>T (n.99+10A>T)
c.219+10A>T (n.219+10A>T)
c.384+10A>T (n.384+10A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.88731719T>CCA2739886244MEF2Cc.432+10A>G (n.432+10A>G)
c.810+10A>G (n.810+10A>G)
n.747+10A>G
c.801+10A>G (n.801+10A>G)
c.864+10A>G (n.864+10A>G)
c.804+10A>G (n.804+10A>G)
n.238A>G
c.666+10A>G (n.666+10A>G)
c.99+10A>G (n.99+10A>G)
c.219+10A>G (n.219+10A>G)
c.384+10A>G (n.384+10A>G)
5g.88731719T>GCA2739886245MEF2Cc.432+10A>C (n.432+10A>C)
c.810+10A>C (n.810+10A>C)
n.747+10A>C
c.801+10A>C (n.801+10A>C)
c.864+10A>C (n.864+10A>C)
c.804+10A>C (n.804+10A>C)
n.238A>C
c.666+10A>C (n.666+10A>C)
c.99+10A>C (n.99+10A>C)
c.219+10A>C (n.219+10A>C)
c.384+10A>C (n.384+10A>C)
5g.88731719T=CA1562203597MEF2Cc.432+10A= (n.432+10A=)
c.810+10A= (n.810+10A=)
n.747+10A=
c.801+10A= (n.801+10A=)
c.864+10A= (n.864+10A=)
c.804+10A= (n.804+10A=)
n.238A=
c.666+10A= (n.666+10A=)
c.99+10A= (n.99+10A=)
c.219+10A= (n.219+10A=)
c.384+10A= (n.384+10A=)
5g.88731720T>ACA2739886246MEF2Cc.432+9A>T (n.432+9A>T)
c.810+9A>T (n.810+9A>T)
n.747+9A>T
c.801+9A>T (n.801+9A>T)
c.864+9A>T (n.864+9A>T)
c.804+9A>T (n.804+9A>T)
n.237A>T
c.666+9A>T (n.666+9A>T)
c.99+9A>T (n.99+9A>T)
c.219+9A>T (n.219+9A>T)
c.384+9A>T (n.384+9A>T)
5g.88731720T>GCA2739886247MEF2Cc.432+9A>C (n.432+9A>C)
c.810+9A>C (n.810+9A>C)
n.747+9A>C
c.801+9A>C (n.801+9A>C)
c.864+9A>C (n.864+9A>C)
c.804+9A>C (n.804+9A>C)
n.237A>C
c.666+9A>C (n.666+9A>C)
c.99+9A>C (n.99+9A>C)
c.219+9A>C (n.219+9A>C)
c.384+9A>C (n.384+9A>C)
5g.88731721T>ACA2739886248MEF2Cc.432+8A>T (n.432+8A>T)
c.810+8A>T (n.810+8A>T)
n.747+8A>T
c.801+8A>T (n.801+8A>T)
c.864+8A>T (n.864+8A>T)
c.804+8A>T (n.804+8A>T)
n.236A>T
c.666+8A>T (n.666+8A>T)
c.99+8A>T (n.99+8A>T)
c.219+8A>T (n.219+8A>T)
c.384+8A>T (n.384+8A>T)
5g.88731721T>CCA2739886249MEF2Cc.432+8A>G (n.432+8A>G)
c.810+8A>G (n.810+8A>G)
n.747+8A>G
c.801+8A>G (n.801+8A>G)
c.864+8A>G (n.864+8A>G)
c.804+8A>G (n.804+8A>G)
n.236A>G
c.666+8A>G (n.666+8A>G)
c.99+8A>G (n.99+8A>G)
c.219+8A>G (n.219+8A>G)
c.384+8A>G (n.384+8A>G)
5g.88731721T>GCA2739886250MEF2Cc.432+8A>C (n.432+8A>C)
c.810+8A>C (n.810+8A>C)
n.747+8A>C
c.801+8A>C (n.801+8A>C)
c.864+8A>C (n.864+8A>C)
c.804+8A>C (n.804+8A>C)
n.236A>C
c.666+8A>C (n.666+8A>C)
c.99+8A>C (n.99+8A>C)
c.219+8A>C (n.219+8A>C)
c.384+8A>C (n.384+8A>C)
5g.88731722G>CCA2739886251MEF2Cc.432+7C>G (n.432+7C>G)
c.810+7C>G (n.810+7C>G)
n.747+7C>G
c.801+7C>G (n.801+7C>G)
c.864+7C>G (n.864+7C>G)
c.804+7C>G (n.804+7C>G)
n.235C>G
c.666+7C>G (n.666+7C>G)
c.99+7C>G (n.99+7C>G)
c.219+7C>G (n.219+7C>G)
c.384+7C>G (n.384+7C>G)
5g.88731722G>TCA2674536492MEF2Cc.432+7C>A (n.432+7C>A)
c.810+7C>A (n.810+7C>A)
n.747+7C>A
c.801+7C>A (n.801+7C>A)
c.864+7C>A (n.864+7C>A)
c.804+7C>A (n.804+7C>A)
n.235C>A
c.666+7C>A (n.666+7C>A)
c.99+7C>A (n.99+7C>A)
c.219+7C>A (n.219+7C>A)
c.384+7C>A (n.384+7C>A)
 gnomAD v4
5g.88731723T>CCA2510073040MEF2Cc.432+6A>G (n.432+6A>G)
c.810+6A>G (n.810+6A>G)
n.747+6A>G
c.801+6A>G (n.801+6A>G)
c.864+6A>G (n.864+6A>G)
c.804+6A>G (n.804+6A>G)
n.234A>G
c.666+6A>G (n.666+6A>G)
c.99+6A>G (n.99+6A>G)
c.219+6A>G (n.219+6A>G)
c.384+6A>G (n.384+6A>G)
5g.88731724A>CCA2739886254MEF2Cc.432+5T>G (n.432+5T>G)
c.810+5T>G (n.810+5T>G)
n.747+5T>G
c.801+5T>G (n.801+5T>G)
c.864+5T>G (n.864+5T>G)
c.804+5T>G (n.804+5T>G)
n.233T>G
c.666+5T>G (n.666+5T>G)
c.99+5T>G (n.99+5T>G)
c.219+5T>G (n.219+5T>G)
c.384+5T>G (n.384+5T>G)
5g.88731724A>GCA2739886252MEF2Cc.432+5T>C (n.432+5T>C)
c.810+5T>C (n.810+5T>C)
n.747+5T>C
c.801+5T>C (n.801+5T>C)
c.864+5T>C (n.864+5T>C)
c.804+5T>C (n.804+5T>C)
n.233T>C
c.666+5T>C (n.666+5T>C)
c.99+5T>C (n.99+5T>C)
c.219+5T>C (n.219+5T>C)
c.384+5T>C (n.384+5T>C)
5g.88731724A>TCA2739886253MEF2Cc.432+5T>A (n.432+5T>A)
c.810+5T>A (n.810+5T>A)
n.747+5T>A
c.801+5T>A (n.801+5T>A)
c.864+5T>A (n.864+5T>A)
c.804+5T>A (n.804+5T>A)
n.233T>A
c.666+5T>A (n.666+5T>A)
c.99+5T>A (n.99+5T>A)
c.219+5T>A (n.219+5T>A)
c.384+5T>A (n.384+5T>A)
5g.88731725T>ACA2739886255MEF2Cc.432+4A>T (n.432+4A>T)
c.810+4A>T (n.810+4A>T)
n.747+4A>T
c.801+4A>T (n.801+4A>T)
c.864+4A>T (n.864+4A>T)
c.804+4A>T (n.804+4A>T)
n.232A>T
c.666+4A>T (n.666+4A>T)
c.99+4A>T (n.99+4A>T)
c.219+4A>T (n.219+4A>T)
c.384+4A>T (n.384+4A>T)
5g.88731725T>CCA2739886256MEF2Cc.432+4A>G (n.432+4A>G)
c.810+4A>G (n.810+4A>G)
n.747+4A>G
c.801+4A>G (n.801+4A>G)
c.864+4A>G (n.864+4A>G)
c.804+4A>G (n.804+4A>G)
n.232A>G
c.666+4A>G (n.666+4A>G)
c.99+4A>G (n.99+4A>G)
c.219+4A>G (n.219+4A>G)
c.384+4A>G (n.384+4A>G)
5g.88731725T>GCA2674536493MEF2Cc.432+4A>C (n.432+4A>C)
c.810+4A>C (n.810+4A>C)
n.747+4A>C
c.801+4A>C (n.801+4A>C)
c.864+4A>C (n.864+4A>C)
c.804+4A>C (n.804+4A>C)
n.232A>C
c.666+4A>C (n.666+4A>C)
c.99+4A>C (n.99+4A>C)
c.219+4A>C (n.219+4A>C)
c.384+4A>C (n.384+4A>C)
 gnomAD v4
5g.88731726T>ACA1562203599MEF2Cc.432+3A>T (n.432+3A>T)
c.810+3A>T (n.810+3A>T)
n.747+3A>T
c.801+3A>T (n.801+3A>T)
c.864+3A>T (n.864+3A>T)
c.804+3A>T (n.804+3A>T)
n.231A>T
c.666+3A>T (n.666+3A>T)
c.99+3A>T (n.99+3A>T)
c.219+3A>T (n.219+3A>T)
c.384+3A>T (n.384+3A>T)
 dbSNP
5g.88731726T=CA1562203598MEF2Cc.432+3A= (n.432+3A=)
c.810+3A= (n.810+3A=)
n.747+3A=
c.801+3A= (n.801+3A=)
c.864+3A= (n.864+3A=)
c.804+3A= (n.804+3A=)
n.231A=
c.666+3A= (n.666+3A=)
c.99+3A= (n.99+3A=)
c.219+3A= (n.219+3A=)
c.384+3A= (n.384+3A=)
5g.88731727A>CCA360423141MEF2Cc.432+2T>G (n.432+2T>G)
c.810+2T>G (n.810+2T>G)
n.747+2T>G
c.801+2T>G (n.801+2T>G)
c.864+2T>G (n.864+2T>G)
c.804+2T>G (n.804+2T>G)
n.230T>G
c.666+2T>G (n.666+2T>G)
c.99+2T>G (n.99+2T>G)
c.219+2T>G (n.219+2T>G)
c.384+2T>G (n.384+2T>G)
5g.88731727A>GCA360423142MEF2Cc.432+2T>C (n.432+2T>C)
c.810+2T>C (n.810+2T>C)
n.747+2T>C
c.801+2T>C (n.801+2T>C)
c.864+2T>C (n.864+2T>C)
c.804+2T>C (n.804+2T>C)
n.230T>C
c.666+2T>C (n.666+2T>C)
c.99+2T>C (n.99+2T>C)
c.219+2T>C (n.219+2T>C)
c.384+2T>C (n.384+2T>C)
 ClinVar
5g.88731727A>TCA360423143MEF2Cc.432+2T>A (n.432+2T>A)
c.810+2T>A (n.810+2T>A)
n.747+2T>A
c.801+2T>A (n.801+2T>A)
c.864+2T>A (n.864+2T>A)
c.804+2T>A (n.804+2T>A)
n.230T>A
c.666+2T>A (n.666+2T>A)
c.99+2T>A (n.99+2T>A)
c.219+2T>A (n.219+2T>A)
c.384+2T>A (n.384+2T>A)
5g.88731728C>ACA360423144MEF2Cc.432+1G>T (n.432+1G>T)
c.810+1G>T (n.810+1G>T)
n.747+1G>T
c.801+1G>T (n.801+1G>T)
c.864+1G>T (n.864+1G>T)
c.804+1G>T (n.804+1G>T)
n.229G>T
c.666+1G>T (n.666+1G>T)
c.99+1G>T (n.99+1G>T)
c.219+1G>T (n.219+1G>T)
c.384+1G>T (n.384+1G>T)
5g.88731728C=CA1562203600MEF2Cc.432+1G= (n.432+1G=)
c.810+1G= (n.810+1G=)
n.747+1G=
c.801+1G= (n.801+1G=)
c.864+1G= (n.864+1G=)
c.804+1G= (n.804+1G=)
n.229G=
c.666+1G= (n.666+1G=)
c.99+1G= (n.99+1G=)
c.219+1G= (n.219+1G=)
c.384+1G= (n.384+1G=)
5g.88731728C>GCA360423145MEF2Cc.432+1G>C (n.432+1G>C)
c.810+1G>C (n.810+1G>C)
n.747+1G>C
c.801+1G>C (n.801+1G>C)
c.864+1G>C (n.864+1G>C)
c.804+1G>C (n.804+1G>C)
n.229G>C
c.666+1G>C (n.666+1G>C)
c.99+1G>C (n.99+1G>C)
c.219+1G>C (n.219+1G>C)
c.384+1G>C (n.384+1G>C)
5g.88731728C>TCA360423146MEF2Cc.432+1G>A (n.432+1G>A)
c.810+1G>A (n.810+1G>A)
n.747+1G>A
c.801+1G>A (n.801+1G>A)
c.864+1G>A (n.864+1G>A)
c.804+1G>A (n.804+1G>A)
n.229G>A
c.666+1G>A (n.666+1G>A)
c.99+1G>A (n.99+1G>A)
c.219+1G>A (n.219+1G>A)
c.384+1G>A (n.384+1G>A)
 ClinVar dbSNP
5g.88731729delCA2695204697MEF2Cc.432+1del
c.810+1del
n.747+1del
c.801+1del
c.864+1del
c.804+1del
n.229del
c.666+1del
c.99+1del
c.219+1del
c.384+1del
5g.88731729C>ACA445369716MEF2Cc.432G>T (p.Val144=)
c.810G>T (p.Val270=)
n.747G>T
c.801G>T (p.Val267=)
c.864G>T (p.Val288=)
c.804G>T (p.Val268=)
n.228G>T
c.666G>T (p.Val222=)
c.99G>T (p.Val33=)
c.219G>T (p.Val73=)
c.384G>T (p.Val128=)
 gnomAD v4
5g.88731729C>GCA445369718MEF2Cc.432G>C (p.Val144=)
c.810G>C (p.Val270=)
n.747G>C
c.801G>C (p.Val267=)
c.864G>C (p.Val288=)
c.804G>C (p.Val268=)
n.228G>C
c.666G>C (p.Val222=)
c.99G>C (p.Val33=)
c.219G>C (p.Val73=)
c.384G>C (p.Val128=)
5g.88731729C>TCA445369719MEF2Cc.432G>A (p.Val144=)
c.810G>A (p.Val270=)
n.747G>A
c.801G>A (p.Val267=)
c.864G>A (p.Val288=)
c.804G>A (p.Val268=)
n.228G>A
c.666G>A (p.Val222=)
c.99G>A (p.Val33=)
c.219G>A (p.Val73=)
c.384G>A (p.Val128=)
5g.88731730A>CCA360423147MEF2Cc.431T>G (p.Val144Gly)
c.809T>G (p.Val270Gly)
n.746T>G
c.800T>G (p.Val267Gly)
c.863T>G (p.Val288Gly)
c.803T>G (p.Val268Gly)
n.227T>G
c.665T>G (p.Val222Gly)
c.98T>G (p.Val33Gly)
c.218T>G (p.Val73Gly)
c.383T>G (p.Val128Gly)
5g.88731730A>GCA360423148MEF2Cc.431T>C (p.Val144Ala)
c.809T>C (p.Val270Ala)
n.746T>C
c.800T>C (p.Val267Ala)
c.863T>C (p.Val288Ala)
c.803T>C (p.Val268Ala)
n.227T>C
c.665T>C (p.Val222Ala)
c.98T>C (p.Val33Ala)
c.218T>C (p.Val73Ala)
c.383T>C (p.Val128Ala)
5g.88731730A>TCA360423149MEF2Cc.431T>A (p.Val144Glu)
c.809T>A (p.Val270Glu)
n.746T>A
c.800T>A (p.Val267Glu)
c.863T>A (p.Val288Glu)
c.803T>A (p.Val268Glu)
n.227T>A
c.665T>A (p.Val222Glu)
c.98T>A (p.Val33Glu)
c.218T>A (p.Val73Glu)
c.383T>A (p.Val128Glu)
5g.88731731C>ACA360423150MEF2Cc.430G>T (p.Val144Leu)
c.808G>T (p.Val270Leu)
n.745G>T
c.799G>T (p.Val267Leu)
c.862G>T (p.Val288Leu)
c.802G>T (p.Val268Leu)
n.226G>T
c.664G>T (p.Val222Leu)
c.97G>T (p.Val33Leu)
c.217G>T (p.Val73Leu)
c.382G>T (p.Val128Leu)
5g.88731731C>GCA360423151MEF2Cc.430G>C (p.Val144Leu)
c.808G>C (p.Val270Leu)
n.745G>C
c.799G>C (p.Val267Leu)
c.862G>C (p.Val288Leu)
c.802G>C (p.Val268Leu)
n.226G>C
c.664G>C (p.Val222Leu)
c.97G>C (p.Val33Leu)
c.217G>C (p.Val73Leu)
c.382G>C (p.Val128Leu)
5g.88731731C>TCA360423152MEF2Cc.430G>A (p.Val144Met)
c.808G>A (p.Val270Met)
n.745G>A
c.799G>A (p.Val267Met)
c.862G>A (p.Val288Met)
c.802G>A (p.Val268Met)
n.226G>A
c.664G>A (p.Val222Met)
c.97G>A (p.Val33Met)
c.217G>A (p.Val73Met)
c.382G>A (p.Val128Met)
5g.88731732T>ACA445369728MEF2Cc.429A>T (p.Ser143=)
c.807A>T (p.Ser269=)
n.744A>T
c.798A>T (p.Ser266=)
c.861A>T (p.Ser287=)
c.801A>T (p.Ser267=)
n.225A>T
c.663A>T (p.Ser221=)
c.96A>T (p.Ser32=)
c.216A>T (p.Ser72=)
c.381A>T (p.Ser127=)
5g.88731732T>CCA445369726MEF2Cc.429A>G (p.Ser143=)
c.807A>G (p.Ser269=)
n.744A>G
c.798A>G (p.Ser266=)
c.861A>G (p.Ser287=)
c.801A>G (p.Ser267=)
n.225A>G
c.663A>G (p.Ser221=)
c.96A>G (p.Ser32=)
c.216A>G (p.Ser72=)
c.381A>G (p.Ser127=)
5g.88731732T>GCA445369727MEF2Cc.429A>C (p.Ser143=)
c.807A>C (p.Ser269=)
n.744A>C
c.798A>C (p.Ser266=)
c.861A>C (p.Ser287=)
c.801A>C (p.Ser267=)
n.225A>C
c.663A>C (p.Ser221=)
c.96A>C (p.Ser32=)
c.216A>C (p.Ser72=)
c.381A>C (p.Ser127=)
5g.88731733G>ACA360423155MEF2Cc.428C>T (p.Ser143Leu)
c.806C>T (p.Ser269Leu)
n.743C>T
c.797C>T (p.Ser266Leu)
c.860C>T (p.Ser287Leu)
c.800C>T (p.Ser267Leu)
n.224C>T
c.662C>T (p.Ser221Leu)
c.95C>T (p.Ser32Leu)
c.215C>T (p.Ser72Leu)
c.380C>T (p.Ser127Leu)
5g.88731733G>CCA360423154MEF2Cc.428C>G (p.Ser143Ter)
c.806C>G (p.Ser269Ter)
n.743C>G
c.797C>G (p.Ser266Ter)
c.860C>G (p.Ser287Ter)
c.800C>G (p.Ser267Ter)
n.224C>G
c.662C>G (p.Ser221Ter)
c.95C>G (p.Ser32Ter)
c.215C>G (p.Ser72Ter)
c.380C>G (p.Ser127Ter)
5g.88731733G>TCA360423153MEF2Cc.428C>A (p.Ser143Ter)
c.806C>A (p.Ser269Ter)
n.743C>A
c.797C>A (p.Ser266Ter)
c.860C>A (p.Ser287Ter)
c.800C>A (p.Ser267Ter)
n.224C>A
c.662C>A (p.Ser221Ter)
c.95C>A (p.Ser32Ter)
c.215C>A (p.Ser72Ter)
c.380C>A (p.Ser127Ter)
5g.88731734A>CCA360423156MEF2Cc.427T>G (p.Ser143Ala)
c.805T>G (p.Ser269Ala)
n.742T>G
c.796T>G (p.Ser266Ala)
c.859T>G (p.Ser287Ala)
c.799T>G (p.Ser267Ala)
n.223T>G
c.661T>G (p.Ser221Ala)
c.94T>G (p.Ser32Ala)
c.214T>G (p.Ser72Ala)
c.379T>G (p.Ser127Ala)
5g.88731734A>GCA360423157MEF2Cc.427T>C (p.Ser143Pro)
c.805T>C (p.Ser269Pro)
n.742T>C
c.796T>C (p.Ser266Pro)
c.859T>C (p.Ser287Pro)
c.799T>C (p.Ser267Pro)
n.223T>C
c.661T>C (p.Ser221Pro)
c.94T>C (p.Ser32Pro)
c.214T>C (p.Ser72Pro)
c.379T>C (p.Ser127Pro)
5g.88731734A>TCA360423158MEF2Cc.427T>A (p.Ser143Thr)
c.805T>A (p.Ser269Thr)
n.742T>A
c.796T>A (p.Ser266Thr)
c.859T>A (p.Ser287Thr)
c.799T>A (p.Ser267Thr)
n.223T>A
c.661T>A (p.Ser221Thr)
c.94T>A (p.Ser32Thr)
c.214T>A (p.Ser72Thr)
c.379T>A (p.Ser127Thr)
5g.88731735T>ACA445369733MEF2Cc.426A>T (p.Pro142=)
c.804A>T (p.Pro268=)
n.741A>T
c.795A>T (p.Pro265=)
c.858A>T (p.Pro286=)
c.798A>T (p.Pro266=)
n.222A>T
c.660A>T (p.Pro220=)
c.93A>T (p.Pro31=)
c.213A>T (p.Pro71=)
c.378A>T (p.Pro126=)
5g.88731735T>CCA445369735MEF2Cc.426A>G (p.Pro142=)
c.804A>G (p.Pro268=)
n.741A>G
c.795A>G (p.Pro265=)
c.858A>G (p.Pro286=)
c.798A>G (p.Pro266=)
n.222A>G
c.660A>G (p.Pro220=)
c.93A>G (p.Pro31=)
c.213A>G (p.Pro71=)
c.378A>G (p.Pro126=)
5g.88731735T>GCA445369736MEF2Cc.426A>C (p.Pro142=)
c.804A>C (p.Pro268=)
n.741A>C
c.795A>C (p.Pro265=)
c.858A>C (p.Pro286=)
c.798A>C (p.Pro266=)
n.222A>C
c.660A>C (p.Pro220=)
c.93A>C (p.Pro31=)
c.213A>C (p.Pro71=)
c.378A>C (p.Pro126=)
5g.88731736G>ACA360423159MEF2Cc.425C>T (p.Pro142Leu)
c.803C>T (p.Pro268Leu)
n.740C>T
c.794C>T (p.Pro265Leu)
c.857C>T (p.Pro286Leu)
c.797C>T (p.Pro266Leu)
n.221C>T
c.659C>T (p.Pro220Leu)
c.92C>T (p.Pro31Leu)
c.212C>T (p.Pro71Leu)
c.377C>T (p.Pro126Leu)
5g.88731736G>CCA360423160MEF2Cc.425C>G (p.Pro142Arg)
c.803C>G (p.Pro268Arg)
n.740C>G
c.794C>G (p.Pro265Arg)
c.857C>G (p.Pro286Arg)
c.797C>G (p.Pro266Arg)
n.221C>G
c.659C>G (p.Pro220Arg)
c.92C>G (p.Pro31Arg)
c.212C>G (p.Pro71Arg)
c.377C>G (p.Pro126Arg)
5g.88731736G>TCA360423161MEF2Cc.425C>A (p.Pro142Gln)
c.803C>A (p.Pro268Gln)
n.740C>A
c.794C>A (p.Pro265Gln)
c.857C>A (p.Pro286Gln)
c.797C>A (p.Pro266Gln)
n.221C>A
c.659C>A (p.Pro220Gln)
c.92C>A (p.Pro31Gln)
c.212C>A (p.Pro71Gln)
c.377C>A (p.Pro126Gln)
5g.88731737G>ACA360423162MEF2Cc.424C>T (p.Pro142Ser)
c.802C>T (p.Pro268Ser)
n.739C>T
c.793C>T (p.Pro265Ser)
c.856C>T (p.Pro286Ser)
c.796C>T (p.Pro266Ser)
n.220C>T
c.658C>T (p.Pro220Ser)
c.91C>T (p.Pro31Ser)
c.211C>T (p.Pro71Ser)
c.376C>T (p.Pro126Ser)
 gnomAD v4
5g.88731737G>CCA360423163MEF2Cc.424C>G (p.Pro142Ala)
c.802C>G (p.Pro268Ala)
n.739C>G
c.793C>G (p.Pro265Ala)
c.856C>G (p.Pro286Ala)
c.796C>G (p.Pro266Ala)
n.220C>G
c.658C>G (p.Pro220Ala)
c.91C>G (p.Pro31Ala)
c.211C>G (p.Pro71Ala)
c.376C>G (p.Pro126Ala)
5g.88731737G>TCA360423164MEF2Cc.424C>A (p.Pro142Thr)
c.802C>A (p.Pro268Thr)
n.739C>A
c.793C>A (p.Pro265Thr)
c.856C>A (p.Pro286Thr)
c.796C>A (p.Pro266Thr)
n.220C>A
c.658C>A (p.Pro220Thr)
c.91C>A (p.Pro31Thr)
c.211C>A (p.Pro71Thr)
c.376C>A (p.Pro126Thr)
5g.88731738C>ACA360423165MEF2Cc.423G>T (p.Met141Ile)
c.801G>T (p.Met267Ile)
n.738G>T
c.792G>T (p.Met264Ile)
c.855G>T (p.Met285Ile)
c.795G>T (p.Met265Ile)
n.219G>T
c.657G>T (p.Met219Ile)
c.90G>T (p.Met30Ile)
c.210G>T (p.Met70Ile)
c.375G>T (p.Met125Ile)
5g.88731738C>GCA360423166MEF2Cc.423G>C (p.Met141Ile)
c.801G>C (p.Met267Ile)
n.738G>C
c.792G>C (p.Met264Ile)
c.855G>C (p.Met285Ile)
c.795G>C (p.Met265Ile)
n.219G>C
c.657G>C (p.Met219Ile)
c.90G>C (p.Met30Ile)
c.210G>C (p.Met70Ile)
c.375G>C (p.Met125Ile)
5g.88731738C>TCA360423167MEF2Cc.423G>A (p.Met141Ile)
c.801G>A (p.Met267Ile)
n.738G>A
c.792G>A (p.Met264Ile)
c.855G>A (p.Met285Ile)
c.795G>A (p.Met265Ile)
n.219G>A
c.657G>A (p.Met219Ile)
c.90G>A (p.Met30Ile)
c.210G>A (p.Met70Ile)
c.375G>A (p.Met125Ile)
 gnomAD v4
5g.88731739A=CA1562203601MEF2Cc.422T= (p.Met141=)
c.800T= (p.Met267=)
n.737T=
c.791T= (p.Met264=)
c.854T= (p.Met285=)
c.794T= (p.Met265=)
n.218T=
c.656T= (p.Met219=)
c.89T= (p.Met30=)
c.209T= (p.Met70=)
c.374T= (p.Met125=)
5g.88731739A>CCA360423170MEF2Cc.422T>G (p.Met141Arg)
c.800T>G (p.Met267Arg)
n.737T>G
c.791T>G (p.Met264Arg)
c.854T>G (p.Met285Arg)
c.794T>G (p.Met265Arg)
n.218T>G
c.656T>G (p.Met219Arg)
c.89T>G (p.Met30Arg)
c.209T>G (p.Met70Arg)
c.374T>G (p.Met125Arg)
5g.88731739A>GCA360423169MEF2Cc.422T>C (p.Met141Thr)
c.800T>C (p.Met267Thr)
n.737T>C
c.791T>C (p.Met264Thr)
c.854T>C (p.Met285Thr)
c.794T>C (p.Met265Thr)
n.218T>C
c.656T>C (p.Met219Thr)
c.89T>C (p.Met30Thr)
c.209T>C (p.Met70Thr)
c.374T>C (p.Met125Thr)
 ClinVar dbSNP
5g.88731739A>TCA360423168MEF2Cc.422T>A (p.Met141Lys)
c.800T>A (p.Met267Lys)
n.737T>A
c.791T>A (p.Met264Lys)
c.854T>A (p.Met285Lys)
c.794T>A (p.Met265Lys)
n.218T>A
c.656T>A (p.Met219Lys)
c.89T>A (p.Met30Lys)
c.209T>A (p.Met70Lys)
c.374T>A (p.Met125Lys)
5g.88731740T>ACA360423171MEF2Cc.421A>T (p.Met141Leu)
c.799A>T (p.Met267Leu)
n.736A>T
c.790A>T (p.Met264Leu)
c.853A>T (p.Met285Leu)
c.793A>T (p.Met265Leu)
n.217A>T
c.655A>T (p.Met219Leu)
c.88A>T (p.Met30Leu)
c.208A>T (p.Met70Leu)
c.373A>T (p.Met125Leu)
 dbSNP gnomAD v4
5g.88731740T>CCA360423173MEF2Cc.421A>G (p.Met141Val)
c.799A>G (p.Met267Val)
n.736A>G
c.790A>G (p.Met264Val)
c.853A>G (p.Met285Val)
c.793A>G (p.Met265Val)
n.217A>G
c.655A>G (p.Met219Val)
c.88A>G (p.Met30Val)
c.208A>G (p.Met70Val)
c.373A>G (p.Met125Val)
 ClinVar dbSNP
5g.88731740T>GCA360423172MEF2Cc.421A>C (p.Met141Leu)
c.799A>C (p.Met267Leu)
n.736A>C
c.790A>C (p.Met264Leu)
c.853A>C (p.Met285Leu)
c.793A>C (p.Met265Leu)
n.217A>C
c.655A>C (p.Met219Leu)
c.88A>C (p.Met30Leu)
c.208A>C (p.Met70Leu)
c.373A>C (p.Met125Leu)
5g.88731740T=CA1562203602MEF2Cc.421A= (p.Met141=)
c.799A= (p.Met267=)
n.736A=
c.790A= (p.Met264=)
c.853A= (p.Met285=)
c.793A= (p.Met265=)
n.217A=
c.655A= (p.Met219=)
c.88A= (p.Met30=)
c.208A= (p.Met70=)
c.373A= (p.Met125=)
5g.88731741C>ACA445369746MEF2Cc.420G>T (p.Thr140=)
c.798G>T (p.Thr266=)
n.735G>T
c.789G>T (p.Thr263=)
c.852G>T (p.Thr284=)
c.792G>T (p.Thr264=)
n.216G>T
c.654G>T (p.Thr218=)
c.87G>T (p.Thr29=)
c.207G>T (p.Thr69=)
c.372G>T (p.Thr124=)
 COSMIC COSMIC COSMIC COSMIC
5g.88731741C=CA1562203603MEF2Cc.420G= (p.Thr140=)
c.798G= (p.Thr266=)
n.735G=
c.789G= (p.Thr263=)
c.852G= (p.Thr284=)
c.792G= (p.Thr264=)
n.216G=
c.654G= (p.Thr218=)
c.87G= (p.Thr29=)
c.207G= (p.Thr69=)
c.372G= (p.Thr124=)
5g.88731741C>GCA445369748MEF2Cc.420G>C (p.Thr140=)
c.798G>C (p.Thr266=)
n.735G>C
c.789G>C (p.Thr263=)
c.852G>C (p.Thr284=)
c.792G>C (p.Thr264=)
n.216G>C
c.654G>C (p.Thr218=)
c.87G>C (p.Thr29=)
c.207G>C (p.Thr69=)
c.372G>C (p.Thr124=)
5g.88731741C>TCA3337250MEF2Cc.420G>A (p.Thr140=)
c.798G>A (p.Thr266=)
n.735G>A
c.789G>A (p.Thr263=)
c.852G>A (p.Thr284=)
c.792G>A (p.Thr264=)
n.216G>A
c.654G>A (p.Thr218=)
c.87G>A (p.Thr29=)
c.207G>A (p.Thr69=)
c.372G>A (p.Thr124=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
5g.88731742delCA2695204698MEF2Cc.419del (p.Thr140ArgfsTer13)
c.797del (p.Thr266ArgfsTer13)
n.734del
c.788del (p.Thr263ArgfsTer5)
c.851del (p.Thr284ArgfsTer5)
c.791del (p.Thr264ArgfsTer5)
c.797del (p.Thr266ArgfsTer5)
n.215del
c.791del (p.Thr264ArgfsTer13)
c.653del (p.Thr218ArgfsTer13)
c.86del (p.Thr29ArgfsTer13)
c.206del (p.Thr69ArgfsTer5)
c.653del (p.Thr218ArgfsTer5)
c.371del (p.Thr124ArgfsTer5)
5g.88731742G>ACA3337251MEF2Cc.419C>T (p.Thr140Met)
c.797C>T (p.Thr266Met)
n.734C>T
c.788C>T (p.Thr263Met)
c.851C>T (p.Thr284Met)
c.791C>T (p.Thr264Met)
n.215C>T
c.653C>T (p.Thr218Met)
c.86C>T (p.Thr29Met)
c.206C>T (p.Thr69Met)
c.371C>T (p.Thr124Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.88731742G>CCA360423174MEF2Cc.419C>G (p.Thr140Arg)
c.797C>G (p.Thr266Arg)
n.734C>G
c.788C>G (p.Thr263Arg)
c.851C>G (p.Thr284Arg)
c.791C>G (p.Thr264Arg)
n.215C>G
c.653C>G (p.Thr218Arg)
c.86C>G (p.Thr29Arg)
c.206C>G (p.Thr69Arg)
c.371C>G (p.Thr124Arg)
5g.88731742G=CA1562203604MEF2Cc.419C= (p.Thr140=)
c.797C= (p.Thr266=)
n.734C=
c.788C= (p.Thr263=)
c.851C= (p.Thr284=)
c.791C= (p.Thr264=)
n.215C=
c.653C= (p.Thr218=)
c.86C= (p.Thr29=)
c.206C= (p.Thr69=)
c.371C= (p.Thr124=)
5g.88731742G>TCA360423175MEF2Cc.419C>A (p.Thr140Lys)
c.797C>A (p.Thr266Lys)
n.734C>A
c.788C>A (p.Thr263Lys)
c.851C>A (p.Thr284Lys)
c.791C>A (p.Thr264Lys)
n.215C>A
c.653C>A (p.Thr218Lys)
c.86C>A (p.Thr29Lys)
c.206C>A (p.Thr69Lys)
c.371C>A (p.Thr124Lys)
5g.88731743T>ACA360423176MEF2Cc.418A>T (p.Thr140Ser)
c.796A>T (p.Thr266Ser)
n.733A>T
c.787A>T (p.Thr263Ser)
c.850A>T (p.Thr284Ser)
c.790A>T (p.Thr264Ser)
n.214A>T
c.652A>T (p.Thr218Ser)
c.85A>T (p.Thr29Ser)
c.205A>T (p.Thr69Ser)
c.370A>T (p.Thr124Ser)
5g.88731743T>CCA360423177MEF2Cc.418A>G (p.Thr140Ala)
c.796A>G (p.Thr266Ala)
n.733A>G
c.787A>G (p.Thr263Ala)
c.850A>G (p.Thr284Ala)
c.790A>G (p.Thr264Ala)
n.214A>G
c.652A>G (p.Thr218Ala)
c.85A>G (p.Thr29Ala)
c.205A>G (p.Thr69Ala)
c.370A>G (p.Thr124Ala)
 dbSNP
5g.88731743T>GCA360423178MEF2Cc.418A>C (p.Thr140Pro)
c.796A>C (p.Thr266Pro)
n.733A>C
c.787A>C (p.Thr263Pro)
c.850A>C (p.Thr284Pro)
c.790A>C (p.Thr264Pro)
n.214A>C
c.652A>C (p.Thr218Pro)
c.85A>C (p.Thr29Pro)
c.205A>C (p.Thr69Pro)
c.370A>C (p.Thr124Pro)
5g.88731743T=CA1562203605MEF2Cc.418A= (p.Thr140=)
c.796A= (p.Thr266=)
n.733A=
c.787A= (p.Thr263=)
c.850A= (p.Thr284=)
c.790A= (p.Thr264=)
n.214A=
c.652A= (p.Thr218=)
c.85A= (p.Thr29=)
c.205A= (p.Thr69=)
c.370A= (p.Thr124=)
5g.88731744A>CCA360423179MEF2Cc.417T>G (p.Asn139Lys)
c.795T>G (p.Asn265Lys)
n.732T>G
c.786T>G (p.Asn262Lys)
c.849T>G (p.Asn283Lys)
c.789T>G (p.Asn263Lys)
n.213T>G
c.651T>G (p.Asn217Lys)
c.84T>G (p.Asn28Lys)
c.204T>G (p.Asn68Lys)
c.369T>G (p.Asn123Lys)
5g.88731744A>GCA445369756MEF2Cc.417T>C (p.Asn139=)
c.795T>C (p.Asn265=)
n.732T>C
c.786T>C (p.Asn262=)
c.849T>C (p.Asn283=)
c.789T>C (p.Asn263=)
n.213T>C
c.651T>C (p.Asn217=)
c.84T>C (p.Asn28=)
c.204T>C (p.Asn68=)
c.369T>C (p.Asn123=)
5g.88731744A>TCA360423180MEF2Cc.417T>A (p.Asn139Lys)
c.795T>A (p.Asn265Lys)
n.732T>A
c.786T>A (p.Asn262Lys)
c.849T>A (p.Asn283Lys)
c.789T>A (p.Asn263Lys)
n.213T>A
c.651T>A (p.Asn217Lys)
c.84T>A (p.Asn28Lys)
c.204T>A (p.Asn68Lys)
c.369T>A (p.Asn123Lys)
5g.88731745T>ACA360423181MEF2Cc.416A>T (p.Asn139Ile)
c.794A>T (p.Asn265Ile)
n.731A>T
c.785A>T (p.Asn262Ile)
c.848A>T (p.Asn283Ile)
c.788A>T (p.Asn263Ile)
n.212A>T
c.650A>T (p.Asn217Ile)
c.83A>T (p.Asn28Ile)
c.203A>T (p.Asn68Ile)
c.368A>T (p.Asn123Ile)
5g.88731745T>CCA360423182MEF2Cc.416A>G (p.Asn139Ser)
c.794A>G (p.Asn265Ser)
n.731A>G
c.785A>G (p.Asn262Ser)
c.848A>G (p.Asn283Ser)
c.788A>G (p.Asn263Ser)
n.212A>G
c.650A>G (p.Asn217Ser)
c.83A>G (p.Asn28Ser)
c.203A>G (p.Asn68Ser)
c.368A>G (p.Asn123Ser)
5g.88731745T>GCA360423183MEF2Cc.416A>C (p.Asn139Thr)
c.794A>C (p.Asn265Thr)
n.731A>C
c.785A>C (p.Asn262Thr)
c.848A>C (p.Asn283Thr)
c.788A>C (p.Asn263Thr)
n.212A>C
c.650A>C (p.Asn217Thr)
c.83A>C (p.Asn28Thr)
c.203A>C (p.Asn68Thr)
c.368A>C (p.Asn123Thr)
5g.88731746T>ACA360423184MEF2Cc.415A>T (p.Asn139Tyr)
c.793A>T (p.Asn265Tyr)
n.730A>T
c.784A>T (p.Asn262Tyr)
c.847A>T (p.Asn283Tyr)
c.787A>T (p.Asn263Tyr)
n.211A>T
c.649A>T (p.Asn217Tyr)
c.82A>T (p.Asn28Tyr)
c.202A>T (p.Asn68Tyr)
c.367A>T (p.Asn123Tyr)
5g.88731746T>CCA360423186MEF2Cc.415A>G (p.Asn139Asp)
c.793A>G (p.Asn265Asp)
n.730A>G
c.784A>G (p.Asn262Asp)
c.847A>G (p.Asn283Asp)
c.787A>G (p.Asn263Asp)
n.211A>G
c.649A>G (p.Asn217Asp)
c.82A>G (p.Asn28Asp)
c.202A>G (p.Asn68Asp)
c.367A>G (p.Asn123Asp)
5g.88731746T>GCA360423185MEF2Cc.415A>C (p.Asn139His)
c.793A>C (p.Asn265His)
n.730A>C
c.784A>C (p.Asn262His)
c.847A>C (p.Asn283His)
c.787A>C (p.Asn263His)
n.211A>C
c.649A>C (p.Asn217His)
c.82A>C (p.Asn28His)
c.202A>C (p.Asn68His)
c.367A>C (p.Asn123His)
5g.88731747C>ACA360423187MEF2Cc.414G>T (p.Lys138Asn)
c.792G>T (p.Lys264Asn)
n.729G>T
c.783G>T (p.Lys261Asn)
c.846G>T (p.Lys282Asn)
c.786G>T (p.Lys262Asn)
n.210G>T
c.648G>T (p.Lys216Asn)
c.81G>T (p.Lys27Asn)
c.201G>T (p.Lys67Asn)
c.366G>T (p.Lys122Asn)
5g.88731747C>GCA360423188MEF2Cc.414G>C (p.Lys138Asn)
c.792G>C (p.Lys264Asn)
n.729G>C
c.783G>C (p.Lys261Asn)
c.846G>C (p.Lys282Asn)
c.786G>C (p.Lys262Asn)
n.210G>C
c.648G>C (p.Lys216Asn)
c.81G>C (p.Lys27Asn)
c.201G>C (p.Lys67Asn)
c.366G>C (p.Lys122Asn)
5g.88731747C>TCA445369761MEF2Cc.414G>A (p.Lys138=)
c.792G>A (p.Lys264=)
n.729G>A
c.783G>A (p.Lys261=)
c.846G>A (p.Lys282=)
c.786G>A (p.Lys262=)
n.210G>A
c.648G>A (p.Lys216=)
c.81G>A (p.Lys27=)
c.201G>A (p.Lys67=)
c.366G>A (p.Lys122=)
5g.88731748T>ACA360423189MEF2Cc.413A>T (p.Lys138Met)
c.791A>T (p.Lys264Met)
n.728A>T
c.782A>T (p.Lys261Met)
c.845A>T (p.Lys282Met)
c.785A>T (p.Lys262Met)
n.209A>T
c.647A>T (p.Lys216Met)
c.80A>T (p.Lys27Met)
c.200A>T (p.Lys67Met)
c.365A>T (p.Lys122Met)
5g.88731748T>CCA360423190MEF2Cc.413A>G (p.Lys138Arg)
c.791A>G (p.Lys264Arg)
n.728A>G
c.782A>G (p.Lys261Arg)
c.845A>G (p.Lys282Arg)
c.785A>G (p.Lys262Arg)
n.209A>G
c.647A>G (p.Lys216Arg)
c.80A>G (p.Lys27Arg)
c.200A>G (p.Lys67Arg)
c.365A>G (p.Lys122Arg)
5g.88731748T>GCA360423191MEF2Cc.413A>C (p.Lys138Thr)
c.791A>C (p.Lys264Thr)
n.728A>C
c.782A>C (p.Lys261Thr)
c.845A>C (p.Lys282Thr)
c.785A>C (p.Lys262Thr)
n.209A>C
c.647A>C (p.Lys216Thr)
c.80A>C (p.Lys27Thr)
c.200A>C (p.Lys67Thr)
c.365A>C (p.Lys122Thr)
5g.88731749T>ACA360423192MEF2Cc.412A>T (p.Lys138Ter)
c.790A>T (p.Lys264Ter)
n.727A>T
c.781A>T (p.Lys261Ter)
c.844A>T (p.Lys282Ter)
c.784A>T (p.Lys262Ter)
n.208A>T
c.646A>T (p.Lys216Ter)
c.79A>T (p.Lys27Ter)
c.199A>T (p.Lys67Ter)
c.364A>T (p.Lys122Ter)
5g.88731749T>CCA360423193MEF2Cc.412A>G (p.Lys138Glu)
c.790A>G (p.Lys264Glu)
n.727A>G
c.781A>G (p.Lys261Glu)
c.844A>G (p.Lys282Glu)
c.784A>G (p.Lys262Glu)
n.208A>G
c.646A>G (p.Lys216Glu)
c.79A>G (p.Lys27Glu)
c.199A>G (p.Lys67Glu)
c.364A>G (p.Lys122Glu)
5g.88731749T>GCA360423194MEF2Cc.412A>C (p.Lys138Gln)
c.790A>C (p.Lys264Gln)
n.727A>C
c.781A>C (p.Lys261Gln)
c.844A>C (p.Lys282Gln)
c.784A>C (p.Lys262Gln)
n.208A>C
c.646A>C (p.Lys216Gln)
c.79A>C (p.Lys27Gln)
c.199A>C (p.Lys67Gln)
c.364A>C (p.Lys122Gln)
5g.88731750G>ACA445369766MEF2Cc.411C>T (p.Ser137=)
c.789C>T (p.Ser263=)
n.726C>T
c.780C>T (p.Ser260=)
c.843C>T (p.Ser281=)
c.783C>T (p.Ser261=)
n.207C>T
c.645C>T (p.Ser215=)
c.78C>T (p.Ser26=)
c.198C>T (p.Ser66=)
c.363C>T (p.Ser121=)
5g.88731750G>CCA360423195MEF2Cc.411C>G (p.Ser137Arg)
c.789C>G (p.Ser263Arg)
n.726C>G
c.780C>G (p.Ser260Arg)
c.843C>G (p.Ser281Arg)
c.783C>G (p.Ser261Arg)
n.207C>G
c.645C>G (p.Ser215Arg)
c.78C>G (p.Ser26Arg)
c.198C>G (p.Ser66Arg)
c.363C>G (p.Ser121Arg)
5g.88731750G>TCA360423196MEF2Cc.411C>A (p.Ser137Arg)
c.789C>A (p.Ser263Arg)
n.726C>A
c.780C>A (p.Ser260Arg)
c.843C>A (p.Ser281Arg)
c.783C>A (p.Ser261Arg)
n.207C>A
c.645C>A (p.Ser215Arg)
c.78C>A (p.Ser26Arg)
c.198C>A (p.Ser66Arg)
c.363C>A (p.Ser121Arg)
5g.88731751C>ACA360423198MEF2Cc.410G>T (p.Ser137Ile)
c.788G>T (p.Ser263Ile)
n.725G>T
c.779G>T (p.Ser260Ile)
c.842G>T (p.Ser281Ile)
c.782G>T (p.Ser261Ile)
n.206G>T
c.644G>T (p.Ser215Ile)
c.77G>T (p.Ser26Ile)
c.197G>T (p.Ser66Ile)
c.362G>T (p.Ser121Ile)
 ClinVar dbSNP
5g.88731751C>GCA360423199MEF2Cc.410G>C (p.Ser137Thr)
c.788G>C (p.Ser263Thr)
n.725G>C
c.779G>C (p.Ser260Thr)
c.842G>C (p.Ser281Thr)
c.782G>C (p.Ser261Thr)
n.206G>C
c.644G>C (p.Ser215Thr)
c.77G>C (p.Ser26Thr)
c.197G>C (p.Ser66Thr)
c.362G>C (p.Ser121Thr)
5g.88731751C>TCA360423197MEF2Cc.410G>A (p.Ser137Asn)
c.788G>A (p.Ser263Asn)
n.725G>A
c.779G>A (p.Ser260Asn)
c.842G>A (p.Ser281Asn)
c.782G>A (p.Ser261Asn)
n.206G>A
c.644G>A (p.Ser215Asn)
c.77G>A (p.Ser26Asn)
c.197G>A (p.Ser66Asn)
c.362G>A (p.Ser121Asn)
5g.88731752T>ACA360423200MEF2Cc.409A>T (p.Ser137Cys)
c.787A>T (p.Ser263Cys)
n.724A>T
c.778A>T (p.Ser260Cys)
c.841A>T (p.Ser281Cys)
c.781A>T (p.Ser261Cys)
n.205A>T
c.643A>T (p.Ser215Cys)
c.76A>T (p.Ser26Cys)
c.196A>T (p.Ser66Cys)
c.361A>T (p.Ser121Cys)
5g.88731752T>CCA360423201MEF2Cc.409A>G (p.Ser137Gly)
c.787A>G (p.Ser263Gly)
n.724A>G
c.778A>G (p.Ser260Gly)
c.841A>G (p.Ser281Gly)
c.781A>G (p.Ser261Gly)
n.205A>G
c.643A>G (p.Ser215Gly)
c.76A>G (p.Ser26Gly)
c.196A>G (p.Ser66Gly)
c.361A>G (p.Ser121Gly)
5g.88731752T>GCA360423202MEF2Cc.409A>C (p.Ser137Arg)
c.787A>C (p.Ser263Arg)
n.724A>C
c.778A>C (p.Ser260Arg)
c.841A>C (p.Ser281Arg)
c.781A>C (p.Ser261Arg)
n.205A>C
c.643A>C (p.Ser215Arg)
c.76A>C (p.Ser26Arg)
c.196A>C (p.Ser66Arg)
c.361A>C (p.Ser121Arg)
5g.88731753G>ACA445369776MEF2Cc.408C>T (p.Gly136=)
c.786C>T (p.Gly262=)
n.723C>T
c.777C>T (p.Gly259=)
c.840C>T (p.Gly280=)
c.780C>T (p.Gly260=)
n.204C>T
c.642C>T (p.Gly214=)
c.75C>T (p.Gly25=)
c.195C>T (p.Gly65=)
c.360C>T (p.Gly120=)
5g.88731753G>CCA445369778MEF2Cc.408C>G (p.Gly136=)
c.786C>G (p.Gly262=)
n.723C>G
c.777C>G (p.Gly259=)
c.840C>G (p.Gly280=)
c.780C>G (p.Gly260=)
n.204C>G
c.642C>G (p.Gly214=)
c.75C>G (p.Gly25=)
c.195C>G (p.Gly65=)
c.360C>G (p.Gly120=)
5g.88731753G>TCA445369780MEF2Cc.408C>A (p.Gly136=)
c.786C>A (p.Gly262=)
n.723C>A
c.777C>A (p.Gly259=)
c.840C>A (p.Gly280=)
c.780C>A (p.Gly260=)
n.204C>A
c.642C>A (p.Gly214=)
c.75C>A (p.Gly25=)
c.195C>A (p.Gly65=)
c.360C>A (p.Gly120=)
5g.88731754C>ACA360423203MEF2Cc.407G>T (p.Gly136Val)
c.785G>T (p.Gly262Val)
n.722G>T
c.776G>T (p.Gly259Val)
c.839G>T (p.Gly280Val)
c.779G>T (p.Gly260Val)
n.203G>T
c.641G>T (p.Gly214Val)
c.74G>T (p.Gly25Val)
c.194G>T (p.Gly65Val)
c.359G>T (p.Gly120Val)
5g.88731754C>GCA360423204MEF2Cc.407G>C (p.Gly136Ala)
c.785G>C (p.Gly262Ala)
n.722G>C
c.776G>C (p.Gly259Ala)
c.839G>C (p.Gly280Ala)
c.779G>C (p.Gly260Ala)
n.203G>C
c.641G>C (p.Gly214Ala)
c.74G>C (p.Gly25Ala)
c.194G>C (p.Gly65Ala)
c.359G>C (p.Gly120Ala)
5g.88731754C>TCA360423205MEF2Cc.407G>A (p.Gly136Asp)
c.785G>A (p.Gly262Asp)
n.722G>A
c.776G>A (p.Gly259Asp)
c.839G>A (p.Gly280Asp)
c.779G>A (p.Gly260Asp)
n.203G>A
c.641G>A (p.Gly214Asp)
c.74G>A (p.Gly25Asp)
c.194G>A (p.Gly65Asp)
c.359G>A (p.Gly120Asp)
 COSMIC COSMIC COSMIC COSMIC
5g.88731755C>ACA360423206MEF2Cc.406G>T (p.Gly136Cys)
c.784G>T (p.Gly262Cys)
n.721G>T
c.775G>T (p.Gly259Cys)
c.838G>T (p.Gly280Cys)
c.778G>T (p.Gly260Cys)
n.202G>T
c.640G>T (p.Gly214Cys)
c.73G>T (p.Gly25Cys)
c.193G>T (p.Gly65Cys)
c.358G>T (p.Gly120Cys)
5g.88731755C>GCA360423207MEF2Cc.406G>C (p.Gly136Arg)
c.784G>C (p.Gly262Arg)
n.721G>C
c.775G>C (p.Gly259Arg)
c.838G>C (p.Gly280Arg)
c.778G>C (p.Gly260Arg)
n.202G>C
c.640G>C (p.Gly214Arg)
c.73G>C (p.Gly25Arg)
c.193G>C (p.Gly65Arg)
c.358G>C (p.Gly120Arg)
5g.88731755C>TCA360423208MEF2Cc.406G>A (p.Gly136Ser)
c.784G>A (p.Gly262Ser)
n.721G>A
c.775G>A (p.Gly259Ser)
c.838G>A (p.Gly280Ser)
c.778G>A (p.Gly260Ser)
n.202G>A
c.640G>A (p.Gly214Ser)
c.73G>A (p.Gly25Ser)
c.193G>A (p.Gly65Ser)
c.358G>A (p.Gly120Ser)
5g.88731756T>ACA445369784MEF2Cc.405A>T (p.Pro135=)
c.783A>T (p.Pro261=)
n.720A>T
c.774A>T (p.Pro258=)
c.837A>T (p.Pro279=)
c.777A>T (p.Pro259=)
n.201A>T
c.639A>T (p.Pro213=)
c.72A>T (p.Pro24=)
c.192A>T (p.Pro64=)
c.357A>T (p.Pro119=)
5g.88731756T>CCA445369786MEF2Cc.405A>G (p.Pro135=)
c.783A>G (p.Pro261=)
n.720A>G
c.774A>G (p.Pro258=)
c.837A>G (p.Pro279=)
c.777A>G (p.Pro259=)
n.201A>G
c.639A>G (p.Pro213=)
c.72A>G (p.Pro24=)
c.192A>G (p.Pro64=)
c.357A>G (p.Pro119=)
 gnomAD v4
5g.88731756T>GCA445369787MEF2Cc.405A>C (p.Pro135=)
c.783A>C (p.Pro261=)
n.720A>C
c.774A>C (p.Pro258=)
c.837A>C (p.Pro279=)
c.777A>C (p.Pro259=)
n.201A>C
c.639A>C (p.Pro213=)
c.72A>C (p.Pro24=)
c.192A>C (p.Pro64=)
c.357A>C (p.Pro119=)
5g.88731757G>ACA360423209MEF2Cc.404C>T (p.Pro135Leu)
c.782C>T (p.Pro261Leu)
n.719C>T
c.773C>T (p.Pro258Leu)
c.836C>T (p.Pro279Leu)
c.776C>T (p.Pro259Leu)
n.200C>T
c.638C>T (p.Pro213Leu)
c.71C>T (p.Pro24Leu)
c.191C>T (p.Pro64Leu)
c.356C>T (p.Pro119Leu)
5g.88731757G>CCA360423210MEF2Cc.404C>G (p.Pro135Arg)
c.782C>G (p.Pro261Arg)
n.719C>G
c.773C>G (p.Pro258Arg)
c.836C>G (p.Pro279Arg)
c.776C>G (p.Pro259Arg)
n.200C>G
c.638C>G (p.Pro213Arg)
c.71C>G (p.Pro24Arg)
c.191C>G (p.Pro64Arg)
c.356C>G (p.Pro119Arg)
5g.88731757G>TCA360423211MEF2Cc.404C>A (p.Pro135Gln)
c.782C>A (p.Pro261Gln)
n.719C>A
c.773C>A (p.Pro258Gln)
c.836C>A (p.Pro279Gln)
c.776C>A (p.Pro259Gln)
n.200C>A
c.638C>A (p.Pro213Gln)
c.71C>A (p.Pro24Gln)
c.191C>A (p.Pro64Gln)
c.356C>A (p.Pro119Gln)
5g.88731758G>ACA360423213MEF2Cc.403C>T (p.Pro135Ser)
c.781C>T (p.Pro261Ser)
n.718C>T
c.772C>T (p.Pro258Ser)
c.835C>T (p.Pro279Ser)
c.775C>T (p.Pro259Ser)
n.199C>T
c.637C>T (p.Pro213Ser)
c.70C>T (p.Pro24Ser)
c.190C>T (p.Pro64Ser)
c.355C>T (p.Pro119Ser)
 ClinVar dbSNP gnomAD v4
5g.88731758G>CCA360423214MEF2Cc.403C>G (p.Pro135Ala)
c.781C>G (p.Pro261Ala)
n.718C>G
c.772C>G (p.Pro258Ala)
c.835C>G (p.Pro279Ala)
c.775C>G (p.Pro259Ala)
n.199C>G
c.637C>G (p.Pro213Ala)
c.70C>G (p.Pro24Ala)
c.190C>G (p.Pro64Ala)
c.355C>G (p.Pro119Ala)
5g.88731758G=CA1562203606MEF2Cc.403C= (p.Pro135=)
c.781C= (p.Pro261=)
n.718C=
c.772C= (p.Pro258=)
c.835C= (p.Pro279=)
c.775C= (p.Pro259=)
n.199C=
c.637C= (p.Pro213=)
c.70C= (p.Pro24=)
c.190C= (p.Pro64=)
c.355C= (p.Pro119=)
5g.88731758G>TCA360423212MEF2Cc.403C>A (p.Pro135Thr)
c.781C>A (p.Pro261Thr)
n.718C>A
c.772C>A (p.Pro258Thr)
c.835C>A (p.Pro279Thr)
c.775C>A (p.Pro259Thr)
n.199C>A
c.637C>A (p.Pro213Thr)
c.70C>A (p.Pro24Thr)
c.190C>A (p.Pro64Thr)
c.355C>A (p.Pro119Thr)
5g.88731759T>ACA445369793MEF2Cc.402A>T (p.Pro134=)
c.780A>T (p.Pro260=)
n.717A>T
c.771A>T (p.Pro257=)
c.834A>T (p.Pro278=)
c.774A>T (p.Pro258=)
n.198A>T
c.636A>T (p.Pro212=)
c.69A>T (p.Pro23=)
c.189A>T (p.Pro63=)
c.354A>T (p.Pro118=)
5g.88731759T>CCA3337252MEF2Cc.402A>G (p.Pro134=)
c.780A>G (p.Pro260=)
n.717A>G
c.771A>G (p.Pro257=)
c.834A>G (p.Pro278=)
c.774A>G (p.Pro258=)
n.198A>G
c.636A>G (p.Pro212=)
c.69A>G (p.Pro23=)
c.189A>G (p.Pro63=)
c.354A>G (p.Pro118=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.88731759T>GCA445369795MEF2Cc.402A>C (p.Pro134=)
c.780A>C (p.Pro260=)
n.717A>C
c.771A>C (p.Pro257=)
c.834A>C (p.Pro278=)
c.774A>C (p.Pro258=)
n.198A>C
c.636A>C (p.Pro212=)
c.69A>C (p.Pro23=)
c.189A>C (p.Pro63=)
c.354A>C (p.Pro118=)
5g.88731759T=CA1562203607MEF2Cc.402A= (p.Pro134=)
c.780A= (p.Pro260=)
n.717A=
c.771A= (p.Pro257=)
c.834A= (p.Pro278=)
c.774A= (p.Pro258=)
n.198A=
c.636A= (p.Pro212=)
c.69A= (p.Pro23=)
c.189A= (p.Pro63=)
c.354A= (p.Pro118=)
5g.88731759dupCA891843147MEF2Cc.402dup (p.Pro135ThrfsTer12)
c.780dup (p.Pro261ThrfsTer12)
n.717dup
c.771dup (p.Pro258ThrfsTer16)
c.834dup (p.Pro279ThrfsTer16)
c.774dup (p.Pro259ThrfsTer16)
c.780dup (p.Pro261ThrfsTer16)
n.198dup
c.774dup (p.Pro259ThrfsTer12)
c.636dup (p.Pro213ThrfsTer12)
c.69dup (p.Pro24ThrfsTer12)
c.189dup (p.Pro64ThrfsTer16)
c.636dup (p.Pro213ThrfsTer16)
c.354dup (p.Pro119ThrfsTer16)
 ClinVar dbSNP
5g.88731760G>ACA360423215MEF2Cc.401C>T (p.Pro134Leu)
c.779C>T (p.Pro260Leu)
n.716C>T
c.770C>T (p.Pro257Leu)
c.833C>T (p.Pro278Leu)
c.773C>T (p.Pro258Leu)
n.197C>T
c.635C>T (p.Pro212Leu)
c.68C>T (p.Pro23Leu)
c.188C>T (p.Pro63Leu)
c.353C>T (p.Pro118Leu)
5g.88731760G>CCA360423216MEF2Cc.401C>G (p.Pro134Arg)
c.779C>G (p.Pro260Arg)
n.716C>G
c.770C>G (p.Pro257Arg)
c.833C>G (p.Pro278Arg)
c.773C>G (p.Pro258Arg)
n.197C>G
c.635C>G (p.Pro212Arg)
c.68C>G (p.Pro23Arg)
c.188C>G (p.Pro63Arg)
c.353C>G (p.Pro118Arg)
5g.88731760G>TCA360423217MEF2Cc.401C>A (p.Pro134Gln)
c.779C>A (p.Pro260Gln)
n.716C>A
c.770C>A (p.Pro257Gln)
c.833C>A (p.Pro278Gln)
c.773C>A (p.Pro258Gln)
n.197C>A
c.635C>A (p.Pro212Gln)
c.68C>A (p.Pro23Gln)
c.188C>A (p.Pro63Gln)
c.353C>A (p.Pro118Gln)
5g.88731761G>ACA360423220MEF2Cc.400C>T (p.Pro134Ser)
c.778C>T (p.Pro260Ser)
n.715C>T
c.769C>T (p.Pro257Ser)
c.832C>T (p.Pro278Ser)
c.772C>T (p.Pro258Ser)
n.196C>T
c.634C>T (p.Pro212Ser)
c.67C>T (p.Pro23Ser)
c.187C>T (p.Pro63Ser)
c.352C>T (p.Pro118Ser)
 COSMIC COSMIC COSMIC COSMIC
5g.88731761G>CCA360423219MEF2Cc.400C>G (p.Pro134Ala)
c.778C>G (p.Pro260Ala)
n.715C>G
c.769C>G (p.Pro257Ala)
c.832C>G (p.Pro278Ala)
c.772C>G (p.Pro258Ala)
n.196C>G
c.634C>G (p.Pro212Ala)
c.67C>G (p.Pro23Ala)
c.187C>G (p.Pro63Ala)
c.352C>G (p.Pro118Ala)
5g.88731761G>TCA360423218MEF2Cc.400C>A (p.Pro134Thr)
c.778C>A (p.Pro260Thr)
n.715C>A
c.769C>A (p.Pro257Thr)
c.832C>A (p.Pro278Thr)
c.772C>A (p.Pro258Thr)
n.196C>A
c.634C>A (p.Pro212Thr)
c.67C>A (p.Pro23Thr)
c.187C>A (p.Pro63Thr)
c.352C>A (p.Pro118Thr)
5g.88731762A>CCA360423221MEF2Cc.399T>G (p.Ile133Met)
c.777T>G (p.Ile259Met)
n.714T>G
c.768T>G (p.Ile256Met)
c.831T>G (p.Ile277Met)
c.771T>G (p.Ile257Met)
n.195T>G
c.633T>G (p.Ile211Met)
c.66T>G (p.Ile22Met)
c.186T>G (p.Ile62Met)
c.351T>G (p.Ile117Met)
5g.88731762A>GCA445369802MEF2Cc.399T>C (p.Ile133=)
c.777T>C (p.Ile259=)
n.714T>C
c.768T>C (p.Ile256=)
c.831T>C (p.Ile277=)
c.771T>C (p.Ile257=)
n.195T>C
c.633T>C (p.Ile211=)
c.66T>C (p.Ile22=)
c.186T>C (p.Ile62=)
c.351T>C (p.Ile117=)
5g.88731762A>TCA445369804MEF2Cc.399T>A (p.Ile133=)
c.777T>A (p.Ile259=)
n.714T>A
c.768T>A (p.Ile256=)
c.831T>A (p.Ile277=)
c.771T>A (p.Ile257=)
n.195T>A
c.633T>A (p.Ile211=)
c.66T>A (p.Ile22=)
c.186T>A (p.Ile62=)
c.351T>A (p.Ile117=)
5g.88731763A=CA1562203608MEF2Cc.398T= (p.Ile133=)
c.776T= (p.Ile259=)
n.713T=
c.767T= (p.Ile256=)
c.830T= (p.Ile277=)
c.770T= (p.Ile257=)
n.194T=
c.632T= (p.Ile211=)
c.65T= (p.Ile22=)
c.185T= (p.Ile62=)
c.350T= (p.Ile117=)
5g.88731763A>CCA360423222MEF2Cc.398T>G (p.Ile133Ser)
c.776T>G (p.Ile259Ser)
n.713T>G
c.767T>G (p.Ile256Ser)
c.830T>G (p.Ile277Ser)
c.770T>G (p.Ile257Ser)
n.194T>G
c.632T>G (p.Ile211Ser)
c.65T>G (p.Ile22Ser)
c.185T>G (p.Ile62Ser)
c.350T>G (p.Ile117Ser)
5g.88731763A>GCA360423223MEF2Cc.398T>C (p.Ile133Thr)
c.776T>C (p.Ile259Thr)
n.713T>C
c.767T>C (p.Ile256Thr)
c.830T>C (p.Ile277Thr)
c.770T>C (p.Ile257Thr)
n.194T>C
c.632T>C (p.Ile211Thr)
c.65T>C (p.Ile22Thr)
c.185T>C (p.Ile62Thr)
c.350T>C (p.Ile117Thr)
 dbSNP
5g.88731763A>TCA360423224MEF2Cc.398T>A (p.Ile133Asn)
c.776T>A (p.Ile259Asn)
n.713T>A
c.767T>A (p.Ile256Asn)
c.830T>A (p.Ile277Asn)
c.770T>A (p.Ile257Asn)
n.194T>A
c.632T>A (p.Ile211Asn)
c.65T>A (p.Ile22Asn)
c.185T>A (p.Ile62Asn)
c.350T>A (p.Ile117Asn)
5g.88731764T>ACA360423225MEF2Cc.397A>T (p.Ile133Phe)
c.775A>T (p.Ile259Phe)
n.712A>T
c.766A>T (p.Ile256Phe)
c.829A>T (p.Ile277Phe)
c.769A>T (p.Ile257Phe)
n.193A>T
c.631A>T (p.Ile211Phe)
c.64A>T (p.Ile22Phe)
c.184A>T (p.Ile62Phe)
c.349A>T (p.Ile117Phe)
 dbSNP
5g.88731764T>CCA3337253MEF2Cc.397A>G (p.Ile133Val)
c.775A>G (p.Ile259Val)
n.712A>G
c.766A>G (p.Ile256Val)
c.829A>G (p.Ile277Val)
c.769A>G (p.Ile257Val)
n.193A>G
c.631A>G (p.Ile211Val)
c.64A>G (p.Ile22Val)
c.184A>G (p.Ile62Val)
c.349A>G (p.Ile117Val)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
5g.88731764T>GCA360423226MEF2Cc.397A>C (p.Ile133Leu)
c.775A>C (p.Ile259Leu)
n.712A>C
c.766A>C (p.Ile256Leu)
c.829A>C (p.Ile277Leu)
c.769A>C (p.Ile257Leu)
n.193A>C
c.631A>C (p.Ile211Leu)
c.64A>C (p.Ile22Leu)
c.184A>C (p.Ile62Leu)
c.349A>C (p.Ile117Leu)
5g.88731764T=CA1562203609MEF2Cc.397A= (p.Ile133=)
c.775A= (p.Ile259=)
n.712A=
c.766A= (p.Ile256=)
c.829A= (p.Ile277=)
c.769A= (p.Ile257=)
n.193A=
c.631A= (p.Ile211=)
c.64A= (p.Ile22=)
c.184A= (p.Ile62=)
c.349A= (p.Ile117=)
5g.88731765A=CA1562203610MEF2Cc.396T= (p.Leu132=)
c.774T= (p.Leu258=)
n.711T=
c.765T= (p.Leu255=)
c.828T= (p.Leu276=)
c.768T= (p.Leu256=)
n.192T=
c.630T= (p.Leu210=)
c.63T= (p.Leu21=)
c.183T= (p.Leu61=)
c.348T= (p.Leu116=)
5g.88731765A>CCA445369810MEF2Cc.396T>G (p.Leu132=)
c.774T>G (p.Leu258=)
n.711T>G
c.765T>G (p.Leu255=)
c.828T>G (p.Leu276=)
c.768T>G (p.Leu256=)
n.192T>G
c.630T>G (p.Leu210=)
c.63T>G (p.Leu21=)
c.183T>G (p.Leu61=)
c.348T>G (p.Leu116=)
5g.88731765A>GCA445369811MEF2Cc.396T>C (p.Leu132=)
c.774T>C (p.Leu258=)
n.711T>C
c.765T>C (p.Leu255=)
c.828T>C (p.Leu276=)
c.768T>C (p.Leu256=)
n.192T>C
c.630T>C (p.Leu210=)
c.63T>C (p.Leu21=)
c.183T>C (p.Leu61=)
c.348T>C (p.Leu116=)
 dbSNP gnomAD v2
5g.88731765A>TCA445369813MEF2Cc.396T>A (p.Leu132=)
c.774T>A (p.Leu258=)
n.711T>A
c.765T>A (p.Leu255=)
c.828T>A (p.Leu276=)
c.768T>A (p.Leu256=)
n.192T>A
c.630T>A (p.Leu210=)
c.63T>A (p.Leu21=)
c.183T>A (p.Leu61=)
c.348T>A (p.Leu116=)
5g.88731766A=CA1562203611MEF2Cc.395T= (p.Leu132=)
c.773T= (p.Leu258=)
n.710T=
c.764T= (p.Leu255=)
c.827T= (p.Leu276=)
c.767T= (p.Leu256=)
n.191T=
c.629T= (p.Leu210=)
c.62T= (p.Leu21=)
c.182T= (p.Leu61=)
c.347T= (p.Leu116=)
5g.88731766A>CCA360423228MEF2Cc.395T>G (p.Leu132Arg)
c.773T>G (p.Leu258Arg)
n.710T>G
c.764T>G (p.Leu255Arg)
c.827T>G (p.Leu276Arg)
c.767T>G (p.Leu256Arg)
n.191T>G
c.629T>G (p.Leu210Arg)
c.62T>G (p.Leu21Arg)
c.182T>G (p.Leu61Arg)
c.347T>G (p.Leu116Arg)
5g.88731766A>GCA360423229MEF2Cc.395T>C (p.Leu132Pro)
c.773T>C (p.Leu258Pro)
n.710T>C
c.764T>C (p.Leu255Pro)
c.827T>C (p.Leu276Pro)
c.767T>C (p.Leu256Pro)
n.191T>C
c.629T>C (p.Leu210Pro)
c.62T>C (p.Leu21Pro)
c.182T>C (p.Leu61Pro)
c.347T>C (p.Leu116Pro)
5g.88731766A>TCA360423227MEF2Cc.395T>A (p.Leu132His)
c.773T>A (p.Leu258His)
n.710T>A
c.764T>A (p.Leu255His)
c.827T>A (p.Leu276His)
c.767T>A (p.Leu256His)
n.191T>A
c.629T>A (p.Leu210His)
c.62T>A (p.Leu21His)
c.182T>A (p.Leu61His)
c.347T>A (p.Leu116His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.88731767G>ACA360423232MEF2Cc.394C>T (p.Leu132Phe)
c.772C>T (p.Leu258Phe)
n.709C>T
c.763C>T (p.Leu255Phe)
c.826C>T (p.Leu276Phe)
c.766C>T (p.Leu256Phe)
n.190C>T
c.628C>T (p.Leu210Phe)
c.61C>T (p.Leu21Phe)
c.181C>T (p.Leu61Phe)
c.346C>T (p.Leu116Phe)
5g.88731767G>CCA360423230MEF2Cc.394C>G (p.Leu132Val)
c.772C>G (p.Leu258Val)
n.709C>G
c.763C>G (p.Leu255Val)
c.826C>G (p.Leu276Val)
c.766C>G (p.Leu256Val)
n.190C>G
c.628C>G (p.Leu210Val)
c.61C>G (p.Leu21Val)
c.181C>G (p.Leu61Val)
c.346C>G (p.Leu116Val)
5g.88731767G>TCA360423231MEF2Cc.394C>A (p.Leu132Ile)
c.772C>A (p.Leu258Ile)
n.709C>A
c.763C>A (p.Leu255Ile)
c.826C>A (p.Leu276Ile)
c.766C>A (p.Leu256Ile)
n.190C>A
c.628C>A (p.Leu210Ile)
c.61C>A (p.Leu21Ile)
c.181C>A (p.Leu61Ile)
c.346C>A (p.Leu116Ile)
5g.88731768A>CCA445369818MEF2Cc.393T>G (p.Val131=)
c.771T>G (p.Val257=)
n.708T>G
c.762T>G (p.Val254=)
c.825T>G (p.Val275=)
c.765T>G (p.Val255=)
n.189T>G
c.627T>G (p.Val209=)
c.60T>G (p.Val20=)
c.180T>G (p.Val60=)
c.345T>G (p.Val115=)
5g.88731768A>GCA445369820MEF2Cc.393T>C (p.Val131=)
c.771T>C (p.Val257=)
n.708T>C
c.762T>C (p.Val254=)
c.825T>C (p.Val275=)
c.765T>C (p.Val255=)
n.189T>C
c.627T>C (p.Val209=)
c.60T>C (p.Val20=)
c.180T>C (p.Val60=)
c.345T>C (p.Val115=)
5g.88731768A>TCA445369822MEF2Cc.393T>A (p.Val131=)
c.771T>A (p.Val257=)
n.708T>A
c.762T>A (p.Val254=)
c.825T>A (p.Val275=)
c.765T>A (p.Val255=)
n.189T>A
c.627T>A (p.Val209=)
c.60T>A (p.Val20=)
c.180T>A (p.Val60=)
c.345T>A (p.Val115=)
5g.88731769A>CCA360423233MEF2Cc.392T>G (p.Val131Gly)
c.770T>G (p.Val257Gly)
n.707T>G
c.761T>G (p.Val254Gly)
c.824T>G (p.Val275Gly)
c.764T>G (p.Val255Gly)
n.188T>G
c.626T>G (p.Val209Gly)
c.59T>G (p.Val20Gly)
c.179T>G (p.Val60Gly)
c.344T>G (p.Val115Gly)
 gnomAD v4
5g.88731769A>GCA360423234MEF2Cc.392T>C (p.Val131Ala)
c.770T>C (p.Val257Ala)
n.707T>C
c.761T>C (p.Val254Ala)
c.824T>C (p.Val275Ala)
c.764T>C (p.Val255Ala)
n.188T>C
c.626T>C (p.Val209Ala)
c.59T>C (p.Val20Ala)
c.179T>C (p.Val60Ala)
c.344T>C (p.Val115Ala)
5g.88731769A>TCA360423235MEF2Cc.392T>A (p.Val131Asp)
c.770T>A (p.Val257Asp)
n.707T>A
c.761T>A (p.Val254Asp)
c.824T>A (p.Val275Asp)
c.764T>A (p.Val255Asp)
n.188T>A
c.626T>A (p.Val209Asp)
c.59T>A (p.Val20Asp)
c.179T>A (p.Val60Asp)
c.344T>A (p.Val115Asp)
5g.88731770C>ACA360423236MEF2Cc.391G>T (p.Val131Phe)
c.769G>T (p.Val257Phe)
n.706G>T
c.760G>T (p.Val254Phe)
c.823G>T (p.Val275Phe)
c.763G>T (p.Val255Phe)
n.187G>T
c.625G>T (p.Val209Phe)
c.58G>T (p.Val20Phe)
c.178G>T (p.Val60Phe)
c.343G>T (p.Val115Phe)
5g.88731770C=CA1562203612MEF2Cc.391G= (p.Val131=)
c.769G= (p.Val257=)
n.706G=
c.760G= (p.Val254=)
c.823G= (p.Val275=)
c.763G= (p.Val255=)
n.187G=
c.625G= (p.Val209=)
c.58G= (p.Val20=)
c.178G= (p.Val60=)
c.343G= (p.Val115=)
5g.88731770C>GCA360423237MEF2Cc.391G>C (p.Val131Leu)
c.769G>C (p.Val257Leu)
n.706G>C
c.760G>C (p.Val254Leu)
c.823G>C (p.Val275Leu)
c.763G>C (p.Val255Leu)
n.187G>C
c.625G>C (p.Val209Leu)
c.58G>C (p.Val20Leu)
c.178G>C (p.Val60Leu)
c.343G>C (p.Val115Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.88731770C>TCA360423238MEF2Cc.391G>A (p.Val131Ile)
c.769G>A (p.Val257Ile)
n.706G>A
c.760G>A (p.Val254Ile)
c.823G>A (p.Val275Ile)
c.763G>A (p.Val255Ile)
n.187G>A
c.625G>A (p.Val209Ile)
c.58G>A (p.Val20Ile)
c.178G>A (p.Val60Ile)
c.343G>A (p.Val115Ile)
 gnomAD v4
5g.88731771T>ACA445369826MEF2Cc.390A>T (p.Arg130=)
c.768A>T (p.Arg256=)
n.705A>T
c.759A>T (p.Arg253=)
c.822A>T (p.Arg274=)
c.762A>T (p.Arg254=)
n.186A>T
c.624A>T (p.Arg208=)
c.57A>T (p.Arg19=)
c.177A>T (p.Arg59=)
c.342A>T (p.Arg114=)
5g.88731771T>CCA445369829MEF2Cc.390A>G (p.Arg130=)
c.768A>G (p.Arg256=)
n.705A>G
c.759A>G (p.Arg253=)
c.822A>G (p.Arg274=)
c.762A>G (p.Arg254=)
n.186A>G
c.624A>G (p.Arg208=)
c.57A>G (p.Arg19=)
c.177A>G (p.Arg59=)
c.342A>G (p.Arg114=)
 ClinVar dbSNP
5g.88731771T>GCA445369827MEF2Cc.390A>C (p.Arg130=)
c.768A>C (p.Arg256=)
n.705A>C
c.759A>C (p.Arg253=)
c.822A>C (p.Arg274=)
c.762A>C (p.Arg254=)
n.186A>C
c.624A>C (p.Arg208=)
c.57A>C (p.Arg19=)
c.177A>C (p.Arg59=)
c.342A>C (p.Arg114=)
5g.88731772C>ACA360423239MEF2Cc.389G>T (p.Arg130Leu)
c.767G>T (p.Arg256Leu)
n.704G>T
c.758G>T (p.Arg253Leu)
c.821G>T (p.Arg274Leu)
c.761G>T (p.Arg254Leu)
n.185G>T
c.623G>T (p.Arg208Leu)
c.56G>T (p.Arg19Leu)
c.176G>T (p.Arg59Leu)
c.341G>T (p.Arg114Leu)
 COSMIC COSMIC COSMIC COSMIC
5g.88731772C=CA1562203613MEF2Cc.389G= (p.Arg130=)
c.767G= (p.Arg256=)
n.704G=
c.758G= (p.Arg253=)
c.821G= (p.Arg274=)
c.761G= (p.Arg254=)
n.185G=
c.623G= (p.Arg208=)
c.56G= (p.Arg19=)
c.176G= (p.Arg59=)
c.341G= (p.Arg114=)
5g.88731772C>GCA360423240MEF2Cc.389G>C (p.Arg130Pro)
c.767G>C (p.Arg256Pro)
n.704G>C
c.758G>C (p.Arg253Pro)
c.821G>C (p.Arg274Pro)
c.761G>C (p.Arg254Pro)
n.185G>C
c.623G>C (p.Arg208Pro)
c.56G>C (p.Arg19Pro)
c.176G>C (p.Arg59Pro)
c.341G>C (p.Arg114Pro)
5g.88731772C>TCA360423241MEF2Cc.389G>A (p.Arg130Gln)
c.767G>A (p.Arg256Gln)
n.704G>A
c.758G>A (p.Arg253Gln)
c.821G>A (p.Arg274Gln)
c.761G>A (p.Arg254Gln)
n.185G>A
c.623G>A (p.Arg208Gln)
c.56G>A (p.Arg19Gln)
c.176G>A (p.Arg59Gln)
c.341G>A (p.Arg114Gln)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
5g.88731773G>ACA315931MEF2Cc.388C>T (p.Arg130Ter)
c.766C>T (p.Arg256Ter)
n.703C>T
c.757C>T (p.Arg253Ter)
c.820C>T (p.Arg274Ter)
c.760C>T (p.Arg254Ter)
n.184C>T
c.622C>T (p.Arg208Ter)
c.55C>T (p.Arg19Ter)
c.175C>T (p.Arg59Ter)
c.340C>T (p.Arg114Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
5g.88731773G>CCA360423242MEF2Cc.388C>G (p.Arg130Gly)
c.766C>G (p.Arg256Gly)
n.703C>G
c.757C>G (p.Arg253Gly)
c.820C>G (p.Arg274Gly)
c.760C>G (p.Arg254Gly)
n.184C>G
c.622C>G (p.Arg208Gly)
c.55C>G (p.Arg19Gly)
c.175C>G (p.Arg59Gly)
c.340C>G (p.Arg114Gly)
5g.88731773G=CA1562203614MEF2Cc.388C= (p.Arg130=)
c.766C= (p.Arg256=)
n.703C=
c.757C= (p.Arg253=)
c.820C= (p.Arg274=)
c.760C= (p.Arg254=)
n.184C=
c.622C= (p.Arg208=)
c.55C= (p.Arg19=)
c.175C= (p.Arg59=)
c.340C= (p.Arg114=)
5g.88731773G>TCA445369834MEF2Cc.388C>A (p.Arg130=)
c.766C>A (p.Arg256=)
n.703C>A
c.757C>A (p.Arg253=)
c.820C>A (p.Arg274=)
c.760C>A (p.Arg254=)
n.184C>A
c.622C>A (p.Arg208=)
c.55C>A (p.Arg19=)
c.175C>A (p.Arg59=)
c.340C>A (p.Arg114=)
5g.88731774G>ACA445369836MEF2Cc.387C>T (p.Leu129=)
c.765C>T (p.Leu255=)
n.702C>T
c.756C>T (p.Leu252=)
c.819C>T (p.Leu273=)
c.759C>T (p.Leu253=)
n.183C>T
c.621C>T (p.Leu207=)
c.54C>T (p.Leu18=)
c.174C>T (p.Leu58=)
c.339C>T (p.Leu113=)
 dbSNP
5g.88731774G>CCA445369838MEF2Cc.387C>G (p.Leu129=)
c.765C>G (p.Leu255=)
n.702C>G
c.756C>G (p.Leu252=)
c.819C>G (p.Leu273=)
c.759C>G (p.Leu253=)
n.183C>G
c.621C>G (p.Leu207=)
c.54C>G (p.Leu18=)
c.174C>G (p.Leu58=)
c.339C>G (p.Leu113=)
 gnomAD v4
5g.88731774G=CA1562203615MEF2Cc.387C= (p.Leu129=)
c.765C= (p.Leu255=)
n.702C=
c.756C= (p.Leu252=)
c.819C= (p.Leu273=)
c.759C= (p.Leu253=)
n.183C=
c.621C= (p.Leu207=)
c.54C= (p.Leu18=)
c.174C= (p.Leu58=)
c.339C= (p.Leu113=)
5g.88731774G>TCA445369840MEF2Cc.387C>A (p.Leu129=)
c.765C>A (p.Leu255=)
n.702C>A
c.756C>A (p.Leu252=)
c.819C>A (p.Leu273=)
c.759C>A (p.Leu253=)
n.183C>A
c.621C>A (p.Leu207=)
c.54C>A (p.Leu18=)
c.174C>A (p.Leu58=)
c.339C>A (p.Leu113=)
5g.88731775A>CCA360423245MEF2Cc.386T>G (p.Leu129Arg)
c.764T>G (p.Leu255Arg)
n.701T>G
c.755T>G (p.Leu252Arg)
c.818T>G (p.Leu273Arg)
c.758T>G (p.Leu253Arg)
n.182T>G
c.620T>G (p.Leu207Arg)
c.53T>G (p.Leu18Arg)
c.173T>G (p.Leu58Arg)
c.338T>G (p.Leu113Arg)
5g.88731775A>GCA360423243MEF2Cc.386T>C (p.Leu129Pro)
c.764T>C (p.Leu255Pro)
n.701T>C
c.755T>C (p.Leu252Pro)
c.818T>C (p.Leu273Pro)
c.758T>C (p.Leu253Pro)
n.182T>C
c.620T>C (p.Leu207Pro)
c.53T>C (p.Leu18Pro)
c.173T>C (p.Leu58Pro)
c.338T>C (p.Leu113Pro)
 gnomAD v4
5g.88731775A>TCA360423244MEF2Cc.386T>A (p.Leu129His)
c.764T>A (p.Leu255His)
n.701T>A
c.755T>A (p.Leu252His)
c.818T>A (p.Leu273His)
c.758T>A (p.Leu253His)
n.182T>A
c.620T>A (p.Leu207His)
c.53T>A (p.Leu18His)
c.173T>A (p.Leu58His)
c.338T>A (p.Leu113His)
5g.88731776G>ACA360423246MEF2Cc.385C>T (p.Leu129Phe)
c.763C>T (p.Leu255Phe)
n.700C>T
c.754C>T (p.Leu252Phe)
c.817C>T (p.Leu273Phe)
c.757C>T (p.Leu253Phe)
n.181C>T
c.619C>T (p.Leu207Phe)
c.52C>T (p.Leu18Phe)
c.172C>T (p.Leu58Phe)
c.337C>T (p.Leu113Phe)
5g.88731776G>CCA360423247MEF2Cc.385C>G (p.Leu129Val)
c.763C>G (p.Leu255Val)
n.700C>G
c.754C>G (p.Leu252Val)
c.817C>G (p.Leu273Val)
c.757C>G (p.Leu253Val)
n.181C>G
c.619C>G (p.Leu207Val)
c.52C>G (p.Leu18Val)
c.172C>G (p.Leu58Val)
c.337C>G (p.Leu113Val)
5g.88731776G>TCA360423248MEF2Cc.385C>A (p.Leu129Ile)
c.763C>A (p.Leu255Ile)
n.700C>A
c.754C>A (p.Leu252Ile)
c.817C>A (p.Leu273Ile)
c.757C>A (p.Leu253Ile)
n.181C>A
c.619C>A (p.Leu207Ile)
c.52C>A (p.Leu18Ile)
c.172C>A (p.Leu58Ile)
c.337C>A (p.Leu113Ile)
5g.88731777A>CCA360423249MEF2Cc.384T>G (p.Asp128Glu)
c.762T>G (p.Asp254Glu)
n.699T>G
c.753T>G (p.Asp251Glu)
c.816T>G (p.Asp272Glu)
c.756T>G (p.Asp252Glu)
n.180T>G
c.618T>G (p.Asp206Glu)
c.51T>G (p.Asp17Glu)
c.171T>G (p.Asp57Glu)
c.336T>G (p.Asp112Glu)
5g.88731777A>GCA445369845MEF2Cc.384T>C (p.Asp128=)
c.762T>C (p.Asp254=)
n.699T>C
c.753T>C (p.Asp251=)
c.816T>C (p.Asp272=)
c.756T>C (p.Asp252=)
n.180T>C
c.618T>C (p.Asp206=)
c.51T>C (p.Asp17=)
c.171T>C (p.Asp57=)
c.336T>C (p.Asp112=)
 dbSNP
5g.88731777A>TCA360423250MEF2Cc.384T>A (p.Asp128Glu)
c.762T>A (p.Asp254Glu)
n.699T>A
c.753T>A (p.Asp251Glu)
c.816T>A (p.Asp272Glu)
c.756T>A (p.Asp252Glu)
n.180T>A
c.618T>A (p.Asp206Glu)
c.51T>A (p.Asp17Glu)
c.171T>A (p.Asp57Glu)
c.336T>A (p.Asp112Glu)
5g.88731778T>ACA360423251MEF2Cc.383A>T (p.Asp128Val)
c.761A>T (p.Asp254Val)
n.698A>T
c.752A>T (p.Asp251Val)
c.815A>T (p.Asp272Val)
c.755A>T (p.Asp252Val)
n.179A>T
c.617A>T (p.Asp206Val)
c.50A>T (p.Asp17Val)
c.170A>T (p.Asp57Val)
c.335A>T (p.Asp112Val)
5g.88731778T>CCA360423252MEF2Cc.383A>G (p.Asp128Gly)
c.761A>G (p.Asp254Gly)
n.698A>G
c.752A>G (p.Asp251Gly)
c.815A>G (p.Asp272Gly)
c.755A>G (p.Asp252Gly)
n.179A>G
c.617A>G (p.Asp206Gly)
c.50A>G (p.Asp17Gly)
c.170A>G (p.Asp57Gly)
c.335A>G (p.Asp112Gly)
5g.88731778T>GCA360423253MEF2Cc.383A>C (p.Asp128Ala)
c.761A>C (p.Asp254Ala)
n.698A>C
c.752A>C (p.Asp251Ala)
c.815A>C (p.Asp272Ala)
c.755A>C (p.Asp252Ala)
n.179A>C
c.617A>C (p.Asp206Ala)
c.50A>C (p.Asp17Ala)
c.170A>C (p.Asp57Ala)
c.335A>C (p.Asp112Ala)
5g.88731779C>ACA360423254MEF2Cc.382G>T (p.Asp128Tyr)
c.760G>T (p.Asp254Tyr)
n.697G>T
c.751G>T (p.Asp251Tyr)
c.814G>T (p.Asp272Tyr)
c.754G>T (p.Asp252Tyr)
n.178G>T
c.616G>T (p.Asp206Tyr)
c.49G>T (p.Asp17Tyr)
c.169G>T (p.Asp57Tyr)
c.334G>T (p.Asp112Tyr)
5g.88731779C>GCA360423255MEF2Cc.382G>C (p.Asp128His)
c.760G>C (p.Asp254His)
n.697G>C
c.751G>C (p.Asp251His)
c.814G>C (p.Asp272His)
c.754G>C (p.Asp252His)
n.178G>C
c.616G>C (p.Asp206His)
c.49G>C (p.Asp17His)
c.169G>C (p.Asp57His)
c.334G>C (p.Asp112His)
5g.88731779C>TCA360423256MEF2Cc.382G>A (p.Asp128Asn)
c.760G>A (p.Asp254Asn)
n.697G>A
c.751G>A (p.Asp251Asn)
c.814G>A (p.Asp272Asn)
c.754G>A (p.Asp252Asn)
n.178G>A
c.616G>A (p.Asp206Asn)
c.49G>A (p.Asp17Asn)
c.169G>A (p.Asp57Asn)
c.334G>A (p.Asp112Asn)
5g.88731780T>ACA445369854MEF2Cc.381A>T (p.Pro127=)
c.759A>T (p.Pro253=)
n.696A>T
c.750A>T (p.Pro250=)
c.813A>T (p.Pro271=)
c.753A>T (p.Pro251=)
n.177A>T
c.615A>T (p.Pro205=)
c.48A>T (p.Pro16=)
c.168A>T (p.Pro56=)
c.333A>T (p.Pro111=)
5g.88731780T>CCA247149MEF2Cc.381A>G (p.Pro127=)
c.759A>G (p.Pro253=)
n.696A>G
c.750A>G (p.Pro250=)
c.813A>G (p.Pro271=)
c.753A>G (p.Pro251=)
n.177A>G
c.615A>G (p.Pro205=)
c.48A>G (p.Pro16=)
c.168A>G (p.Pro56=)
c.333A>G (p.Pro111=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.88731780T>GCA445369852MEF2Cc.381A>C (p.Pro127=)
c.759A>C (p.Pro253=)
n.696A>C
c.750A>C (p.Pro250=)
c.813A>C (p.Pro271=)
c.753A>C (p.Pro251=)
n.177A>C
c.615A>C (p.Pro205=)
c.48A>C (p.Pro16=)
c.168A>C (p.Pro56=)
c.333A>C (p.Pro111=)
5g.88731780T=CA1562203616MEF2Cc.381A= (p.Pro127=)
c.759A= (p.Pro253=)
n.696A=
c.750A= (p.Pro250=)
c.813A= (p.Pro271=)
c.753A= (p.Pro251=)
n.177A=
c.615A= (p.Pro205=)
c.48A= (p.Pro16=)
c.168A= (p.Pro56=)
c.333A= (p.Pro111=)
5g.88731781G>ACA360423259MEF2Cc.380C>T (p.Pro127Leu)
c.758C>T (p.Pro253Leu)
n.695C>T
c.749C>T (p.Pro250Leu)
c.812C>T (p.Pro271Leu)
c.752C>T (p.Pro251Leu)
n.176C>T
c.614C>T (p.Pro205Leu)
c.47C>T (p.Pro16Leu)
c.167C>T (p.Pro56Leu)
c.332C>T (p.Pro111Leu)
5g.88731781G>CCA360423258MEF2Cc.380C>G (p.Pro127Arg)
c.758C>G (p.Pro253Arg)
n.695C>G
c.749C>G (p.Pro250Arg)
c.812C>G (p.Pro271Arg)
c.752C>G (p.Pro251Arg)
n.176C>G
c.614C>G (p.Pro205Arg)
c.47C>G (p.Pro16Arg)
c.167C>G (p.Pro56Arg)
c.332C>G (p.Pro111Arg)
5g.88731781G>TCA360423257MEF2Cc.380C>A (p.Pro127Gln)
c.758C>A (p.Pro253Gln)
n.695C>A
c.749C>A (p.Pro250Gln)
c.812C>A (p.Pro271Gln)
c.752C>A (p.Pro251Gln)
n.176C>A
c.614C>A (p.Pro205Gln)
c.47C>A (p.Pro16Gln)
c.167C>A (p.Pro56Gln)
c.332C>A (p.Pro111Gln)
5g.88731782G>ACA360423262MEF2Cc.379C>T (p.Pro127Ser)
c.757C>T (p.Pro253Ser)
n.694C>T
c.748C>T (p.Pro250Ser)
c.811C>T (p.Pro271Ser)
c.751C>T (p.Pro251Ser)
n.175C>T
c.613C>T (p.Pro205Ser)
c.46C>T (p.Pro16Ser)
c.166C>T (p.Pro56Ser)
c.331C>T (p.Pro111Ser)
5g.88731782G>CCA360423260MEF2Cc.379C>G (p.Pro127Ala)
c.757C>G (p.Pro253Ala)
n.694C>G
c.748C>G (p.Pro250Ala)
c.811C>G (p.Pro271Ala)
c.751C>G (p.Pro251Ala)
n.175C>G
c.613C>G (p.Pro205Ala)
c.46C>G (p.Pro16Ala)
c.166C>G (p.Pro56Ala)
c.331C>G (p.Pro111Ala)
5g.88731782G>TCA360423261MEF2Cc.379C>A (p.Pro127Thr)
c.757C>A (p.Pro253Thr)
n.694C>A
c.748C>A (p.Pro250Thr)
c.811C>A (p.Pro271Thr)
c.751C>A (p.Pro251Thr)
n.175C>A
c.613C>A (p.Pro205Thr)
c.46C>A (p.Pro16Thr)
c.166C>A (p.Pro56Thr)
c.331C>A (p.Pro111Thr)
5g.88731783T>ACA360423263MEF2Cc.378A>T (p.Lys126Asn)
c.756A>T (p.Lys252Asn)
n.693A>T
c.747A>T (p.Lys249Asn)
c.810A>T (p.Lys270Asn)
c.750A>T (p.Lys250Asn)
n.174A>T
c.612A>T (p.Lys204Asn)
c.45A>T (p.Lys15Asn)
c.165A>T (p.Lys55Asn)
c.330A>T (p.Lys110Asn)
5g.88731783T>CCA445369860MEF2Cc.378A>G (p.Lys126=)
c.756A>G (p.Lys252=)
n.693A>G
c.747A>G (p.Lys249=)
c.810A>G (p.Lys270=)
c.750A>G (p.Lys250=)
n.174A>G
c.612A>G (p.Lys204=)
c.45A>G (p.Lys15=)
c.165A>G (p.Lys55=)
c.330A>G (p.Lys110=)
5g.88731783T>GCA360423264MEF2Cc.378A>C (p.Lys126Asn)
c.756A>C (p.Lys252Asn)
n.693A>C
c.747A>C (p.Lys249Asn)
c.810A>C (p.Lys270Asn)
c.750A>C (p.Lys250Asn)
n.174A>C
c.612A>C (p.Lys204Asn)
c.45A>C (p.Lys15Asn)
c.165A>C (p.Lys55Asn)
c.330A>C (p.Lys110Asn)
5g.88731784T>ACA360423265MEF2Cc.377A>T (p.Lys126Ile)
c.755A>T (p.Lys252Ile)
n.692A>T
c.746A>T (p.Lys249Ile)
c.809A>T (p.Lys270Ile)
c.749A>T (p.Lys250Ile)
n.173A>T
c.611A>T (p.Lys204Ile)
c.44A>T (p.Lys15Ile)
c.164A>T (p.Lys55Ile)
c.329A>T (p.Lys110Ile)
5g.88731784T>CCA360423266MEF2Cc.377A>G (p.Lys126Arg)
c.755A>G (p.Lys252Arg)
n.692A>G
c.746A>G (p.Lys249Arg)
c.809A>G (p.Lys270Arg)
c.749A>G (p.Lys250Arg)
n.173A>G
c.611A>G (p.Lys204Arg)
c.44A>G (p.Lys15Arg)
c.164A>G (p.Lys55Arg)
c.329A>G (p.Lys110Arg)
5g.88731784T>GCA360423267MEF2Cc.377A>C (p.Lys126Thr)
c.755A>C (p.Lys252Thr)
n.692A>C
c.746A>C (p.Lys249Thr)
c.809A>C (p.Lys270Thr)
c.749A>C (p.Lys250Thr)
n.173A>C
c.611A>C (p.Lys204Thr)
c.44A>C (p.Lys15Thr)
c.164A>C (p.Lys55Thr)
c.329A>C (p.Lys110Thr)
5g.88731785T>ACA360423268MEF2Cc.376A>T (p.Lys126Ter)
c.754A>T (p.Lys252Ter)
n.691A>T
c.745A>T (p.Lys249Ter)
c.808A>T (p.Lys270Ter)
c.748A>T (p.Lys250Ter)
n.172A>T
c.610A>T (p.Lys204Ter)
c.43A>T (p.Lys15Ter)
c.163A>T (p.Lys55Ter)
c.328A>T (p.Lys110Ter)
5g.88731785T>CCA360423269MEF2Cc.376A>G (p.Lys126Glu)
c.754A>G (p.Lys252Glu)
n.691A>G
c.745A>G (p.Lys249Glu)
c.808A>G (p.Lys270Glu)
c.748A>G (p.Lys250Glu)
n.172A>G
c.610A>G (p.Lys204Glu)
c.43A>G (p.Lys15Glu)
c.163A>G (p.Lys55Glu)
c.328A>G (p.Lys110Glu)
5g.88731785T>GCA360423270MEF2Cc.376A>C (p.Lys126Gln)
c.754A>C (p.Lys252Gln)
n.691A>C
c.745A>C (p.Lys249Gln)
c.808A>C (p.Lys270Gln)
c.748A>C (p.Lys250Gln)
n.172A>C
c.610A>C (p.Lys204Gln)
c.43A>C (p.Lys15Gln)
c.163A>C (p.Lys55Gln)
c.328A>C (p.Lys110Gln)
5g.88731786A=CA1562203617MEF2Cc.375T= (p.Arg125=)
c.753T= (p.Arg251=)
n.690T=
c.744T= (p.Arg248=)
c.807T= (p.Arg269=)
c.747T= (p.Arg249=)
n.171T=
c.609T= (p.Arg203=)
c.42T= (p.Arg14=)
c.162T= (p.Arg54=)
c.327T= (p.Arg109=)
5g.88731786A>CCA445369865MEF2Cc.375T>G (p.Arg125=)
c.753T>G (p.Arg251=)
n.690T>G
c.744T>G (p.Arg248=)
c.807T>G (p.Arg269=)
c.747T>G (p.Arg249=)
n.171T>G
c.609T>G (p.Arg203=)
c.42T>G (p.Arg14=)
c.162T>G (p.Arg54=)
c.327T>G (p.Arg109=)
 dbSNP
5g.88731786A>GCA445369866MEF2Cc.375T>C (p.Arg125=)
c.753T>C (p.Arg251=)
n.690T>C
c.744T>C (p.Arg248=)
c.807T>C (p.Arg269=)
c.747T>C (p.Arg249=)
n.171T>C
c.609T>C (p.Arg203=)
c.42T>C (p.Arg14=)
c.162T>C (p.Arg54=)
c.327T>C (p.Arg109=)
5g.88731786A>TCA445369868MEF2Cc.375T>A (p.Arg125=)
c.753T>A (p.Arg251=)
n.690T>A
c.744T>A (p.Arg248=)
c.807T>A (p.Arg269=)
c.747T>A (p.Arg249=)
n.171T>A
c.609T>A (p.Arg203=)
c.42T>A (p.Arg14=)
c.162T>A (p.Arg54=)
c.327T>A (p.Arg109=)
5g.88731787C>ACA360423271MEF2Cc.374G>T (p.Arg125Leu)
c.752G>T (p.Arg251Leu)
n.689G>T
c.743G>T (p.Arg248Leu)
c.806G>T (p.Arg269Leu)
c.746G>T (p.Arg249Leu)
n.170G>T
c.608G>T (p.Arg203Leu)
c.41G>T (p.Arg14Leu)
c.161G>T (p.Arg54Leu)
c.326G>T (p.Arg109Leu)
5g.88731787C=CA1562203618MEF2Cc.374G= (p.Arg125=)
c.752G= (p.Arg251=)
n.689G=
c.743G= (p.Arg248=)
c.806G= (p.Arg269=)
c.746G= (p.Arg249=)
n.170G=
c.608G= (p.Arg203=)
c.41G= (p.Arg14=)
c.161G= (p.Arg54=)
c.326G= (p.Arg109=)
5g.88731787C>GCA360423272MEF2Cc.374G>C (p.Arg125Pro)
c.752G>C (p.Arg251Pro)
n.689G>C
c.743G>C (p.Arg248Pro)
c.806G>C (p.Arg269Pro)
c.746G>C (p.Arg249Pro)
n.170G>C
c.608G>C (p.Arg203Pro)
c.41G>C (p.Arg14Pro)
c.161G>C (p.Arg54Pro)
c.326G>C (p.Arg109Pro)
5g.88731787C>TCA360423273MEF2Cc.374G>A (p.Arg125His)
c.752G>A (p.Arg251His)
n.689G>A
c.743G>A (p.Arg248His)
c.806G>A (p.Arg269His)
c.746G>A (p.Arg249His)
n.170G>A
c.608G>A (p.Arg203His)
c.41G>A (p.Arg14His)
c.161G>A (p.Arg54His)
c.326G>A (p.Arg109His)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
5g.88731788G>ACA360423276MEF2Cc.373C>T (p.Arg125Cys)
c.751C>T (p.Arg251Cys)
n.688C>T
c.742C>T (p.Arg248Cys)
c.805C>T (p.Arg269Cys)
c.745C>T (p.Arg249Cys)
n.169C>T
c.607C>T (p.Arg203Cys)
c.40C>T (p.Arg14Cys)
c.160C>T (p.Arg54Cys)
c.325C>T (p.Arg109Cys)
 ClinVar dbSNP
5g.88731788G>CCA360423274MEF2Cc.373C>G (p.Arg125Gly)
c.751C>G (p.Arg251Gly)
n.688C>G
c.742C>G (p.Arg248Gly)
c.805C>G (p.Arg269Gly)
c.745C>G (p.Arg249Gly)
n.169C>G
c.607C>G (p.Arg203Gly)
c.40C>G (p.Arg14Gly)
c.160C>G (p.Arg54Gly)
c.325C>G (p.Arg109Gly)
5g.88731788G=CA1562203619MEF2Cc.373C= (p.Arg125=)
c.751C= (p.Arg251=)
n.688C=
c.742C= (p.Arg248=)
c.805C= (p.Arg269=)
c.745C= (p.Arg249=)
n.169C=
c.607C= (p.Arg203=)
c.40C= (p.Arg14=)
c.160C= (p.Arg54=)
c.325C= (p.Arg109=)
5g.88731788G>TCA360423275MEF2Cc.373C>A (p.Arg125Ser)
c.751C>A (p.Arg251Ser)
n.688C>A
c.742C>A (p.Arg248Ser)
c.805C>A (p.Arg269Ser)
c.745C>A (p.Arg249Ser)
n.169C>A
c.607C>A (p.Arg203Ser)
c.40C>A (p.Arg14Ser)
c.160C>A (p.Arg54Ser)
c.325C>A (p.Arg109Ser)
5g.88731789G>ACA445369872MEF2Cc.372C>T (p.Asn124=)
c.750C>T (p.Asn250=)
n.687C>T
c.741C>T (p.Asn247=)
c.804C>T (p.Asn268=)
c.744C>T (p.Asn248=)
n.168C>T
c.606C>T (p.Asn202=)
c.39C>T (p.Asn13=)
c.159C>T (p.Asn53=)
c.324C>T (p.Asn108=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
5g.88731789G>CCA360423277MEF2Cc.372C>G (p.Asn124Lys)
c.750C>G (p.Asn250Lys)
n.687C>G
c.741C>G (p.Asn247Lys)
c.804C>G (p.Asn268Lys)
c.744C>G (p.Asn248Lys)
n.168C>G
c.606C>G (p.Asn202Lys)
c.39C>G (p.Asn13Lys)
c.159C>G (p.Asn53Lys)
c.324C>G (p.Asn108Lys)
5g.88731789G=CA1562203620MEF2Cc.372C= (p.Asn124=)
c.750C= (p.Asn250=)
n.687C=
c.741C= (p.Asn247=)
c.804C= (p.Asn268=)
c.744C= (p.Asn248=)
n.168C=
c.606C= (p.Asn202=)
c.39C= (p.Asn13=)
c.159C= (p.Asn53=)
c.324C= (p.Asn108=)
5g.88731789G>TCA360423278MEF2Cc.372C>A (p.Asn124Lys)
c.750C>A (p.Asn250Lys)
n.687C>A
c.741C>A (p.Asn247Lys)
c.804C>A (p.Asn268Lys)
c.744C>A (p.Asn248Lys)
n.168C>A
c.606C>A (p.Asn202Lys)
c.39C>A (p.Asn13Lys)
c.159C>A (p.Asn53Lys)
c.324C>A (p.Asn108Lys)
5g.88731790T>ACA360423279MEF2Cc.371A>T (p.Asn124Ile)
c.749A>T (p.Asn250Ile)
n.686A>T
c.740A>T (p.Asn247Ile)
c.803A>T (p.Asn268Ile)
c.743A>T (p.Asn248Ile)
n.167A>T
c.605A>T (p.Asn202Ile)
c.38A>T (p.Asn13Ile)
c.158A>T (p.Asn53Ile)
c.323A>T (p.Asn108Ile)
 gnomAD v4
5g.88731790T>CCA360423280MEF2Cc.371A>G (p.Asn124Ser)
c.749A>G (p.Asn250Ser)
n.686A>G
c.740A>G (p.Asn247Ser)
c.803A>G (p.Asn268Ser)
c.743A>G (p.Asn248Ser)
n.167A>G
c.605A>G (p.Asn202Ser)
c.38A>G (p.Asn13Ser)
c.158A>G (p.Asn53Ser)
c.323A>G (p.Asn108Ser)
5g.88731790T>GCA360423281MEF2Cc.371A>C (p.Asn124Thr)
c.749A>C (p.Asn250Thr)
n.686A>C
c.740A>C (p.Asn247Thr)
c.803A>C (p.Asn268Thr)
c.743A>C (p.Asn248Thr)
n.167A>C
c.605A>C (p.Asn202Thr)
c.38A>C (p.Asn13Thr)
c.158A>C (p.Asn53Thr)
c.323A>C (p.Asn108Thr)
5g.88731791T>ACA360423282MEF2Cc.370A>T (p.Asn124Tyr)
c.748A>T (p.Asn250Tyr)
n.685A>T
c.739A>T (p.Asn247Tyr)
c.802A>T (p.Asn268Tyr)
c.742A>T (p.Asn248Tyr)
n.166A>T
c.604A>T (p.Asn202Tyr)
c.37A>T (p.Asn13Tyr)
c.157A>T (p.Asn53Tyr)
c.322A>T (p.Asn108Tyr)
5g.88731791T>CCA360423283MEF2Cc.370A>G (p.Asn124Asp)
c.748A>G (p.Asn250Asp)
n.685A>G
c.739A>G (p.Asn247Asp)
c.802A>G (p.Asn268Asp)
c.742A>G (p.Asn248Asp)
n.166A>G
c.604A>G (p.Asn202Asp)
c.37A>G (p.Asn13Asp)
c.157A>G (p.Asn53Asp)
c.322A>G (p.Asn108Asp)
5g.88731791T>GCA360423284MEF2Cc.370A>C (p.Asn124His)
c.748A>C (p.Asn250His)
n.685A>C
c.739A>C (p.Asn247His)
c.802A>C (p.Asn268His)
c.742A>C (p.Asn248His)
n.166A>C
c.604A>C (p.Asn202His)
c.37A>C (p.Asn13His)
c.157A>C (p.Asn53His)
c.322A>C (p.Asn108His)
5g.88731792A>CCA360423285MEF2Cc.369T>G (p.Asn123Lys)
c.747T>G (p.Asn249Lys)
n.684T>G
c.738T>G (p.Asn246Lys)
c.801T>G (p.Asn267Lys)
c.741T>G (p.Asn247Lys)
n.165T>G
c.603T>G (p.Asn201Lys)
c.36T>G (p.Asn12Lys)
c.156T>G (p.Asn52Lys)
c.321T>G (p.Asn107Lys)
5g.88731792A>GCA445369880MEF2Cc.369T>C (p.Asn123=)
c.747T>C (p.Asn249=)
n.684T>C
c.738T>C (p.Asn246=)
c.801T>C (p.Asn267=)
c.741T>C (p.Asn247=)
n.165T>C
c.603T>C (p.Asn201=)
c.36T>C (p.Asn12=)
c.156T>C (p.Asn52=)
c.321T>C (p.Asn107=)
5g.88731792A>TCA360423286MEF2Cc.369T>A (p.Asn123Lys)
c.747T>A (p.Asn249Lys)
n.684T>A
c.738T>A (p.Asn246Lys)
c.801T>A (p.Asn267Lys)
c.741T>A (p.Asn247Lys)
n.165T>A
c.603T>A (p.Asn201Lys)
c.36T>A (p.Asn12Lys)
c.156T>A (p.Asn52Lys)
c.321T>A (p.Asn107Lys)
5g.88731793T>ACA360423287MEF2Cc.368A>T (p.Asn123Ile)
c.746A>T (p.Asn249Ile)
n.683A>T
c.737A>T (p.Asn246Ile)
c.800A>T (p.Asn267Ile)
c.740A>T (p.Asn247Ile)
n.164A>T
c.602A>T (p.Asn201Ile)
c.35A>T (p.Asn12Ile)
c.155A>T (p.Asn52Ile)
c.320A>T (p.Asn107Ile)
5g.88731793T>CCA360423288MEF2Cc.368A>G (p.Asn123Ser)
c.746A>G (p.Asn249Ser)
n.683A>G
c.737A>G (p.Asn246Ser)
c.800A>G (p.Asn267Ser)
c.740A>G (p.Asn247Ser)
n.164A>G
c.602A>G (p.Asn201Ser)
c.35A>G (p.Asn12Ser)
c.155A>G (p.Asn52Ser)
c.320A>G (p.Asn107Ser)
 ClinVar
5g.88731793T>GCA360423289MEF2Cc.368A>C (p.Asn123Thr)
c.746A>C (p.Asn249Thr)
n.683A>C
c.737A>C (p.Asn246Thr)
c.800A>C (p.Asn267Thr)
c.740A>C (p.Asn247Thr)
n.164A>C
c.602A>C (p.Asn201Thr)
c.35A>C (p.Asn12Thr)
c.155A>C (p.Asn52Thr)
c.320A>C (p.Asn107Thr)
5g.88731794T>ACA360423292MEF2Cc.367A>T (p.Asn123Tyr)
c.745A>T (p.Asn249Tyr)
n.682A>T
c.736A>T (p.Asn246Tyr)
c.799A>T (p.Asn267Tyr)
c.739A>T (p.Asn247Tyr)
n.163A>T
c.601A>T (p.Asn201Tyr)
c.34A>T (p.Asn12Tyr)
c.154A>T (p.Asn52Tyr)
c.319A>T (p.Asn107Tyr)
5g.88731794T>CCA360423291MEF2Cc.367A>G (p.Asn123Asp)
c.745A>G (p.Asn249Asp)
n.682A>G
c.736A>G (p.Asn246Asp)
c.799A>G (p.Asn267Asp)
c.739A>G (p.Asn247Asp)
n.163A>G
c.601A>G (p.Asn201Asp)
c.34A>G (p.Asn12Asp)
c.154A>G (p.Asn52Asp)
c.319A>G (p.Asn107Asp)
5g.88731794T>GCA360423290MEF2Cc.367A>C (p.Asn123His)
c.745A>C (p.Asn249His)
n.682A>C
c.736A>C (p.Asn246His)
c.799A>C (p.Asn267His)
c.739A>C (p.Asn247His)
n.163A>C
c.601A>C (p.Asn201His)
c.34A>C (p.Asn12His)
c.154A>C (p.Asn52His)
c.319A>C (p.Asn107His)
5g.88731795C>ACA360423293MEF2Cc.366G>T (p.Met122Ile)
c.744G>T (p.Met248Ile)
n.681G>T
c.735G>T (p.Met245Ile)
c.798G>T (p.Met266Ile)
c.738G>T (p.Met246Ile)
n.162G>T
c.600G>T (p.Met200Ile)
c.33G>T (p.Met11Ile)
c.153G>T (p.Met51Ile)
c.318G>T (p.Met106Ile)
5g.88731795C>GCA360423295MEF2Cc.366G>C (p.Met122Ile)
c.744G>C (p.Met248Ile)
n.681G>C
c.735G>C (p.Met245Ile)
c.798G>C (p.Met266Ile)
c.738G>C (p.Met246Ile)
n.162G>C
c.600G>C (p.Met200Ile)
c.33G>C (p.Met11Ile)
c.153G>C (p.Met51Ile)
c.318G>C (p.Met106Ile)
5g.88731795C>TCA360423294MEF2Cc.366G>A (p.Met122Ile)
c.744G>A (p.Met248Ile)
n.681G>A
c.735G>A (p.Met245Ile)
c.798G>A (p.Met266Ile)
c.738G>A (p.Met246Ile)
n.162G>A
c.600G>A (p.Met200Ile)
c.33G>A (p.Met11Ile)
c.153G>A (p.Met51Ile)
c.318G>A (p.Met106Ile)
5g.88731796A=CA1562203621MEF2Cc.365T= (p.Met122=)
c.743T= (p.Met248=)
n.680T=
c.734T= (p.Met245=)
c.797T= (p.Met266=)
c.737T= (p.Met246=)
n.161T=
c.599T= (p.Met200=)
c.32T= (p.Met11=)
c.152T= (p.Met51=)
c.317T= (p.Met106=)
5g.88731796A>CCA360423296MEF2Cc.365T>G (p.Met122Arg)
c.743T>G (p.Met248Arg)
n.680T>G
c.734T>G (p.Met245Arg)
c.797T>G (p.Met266Arg)
c.737T>G (p.Met246Arg)
n.161T>G
c.599T>G (p.Met200Arg)
c.32T>G (p.Met11Arg)
c.152T>G (p.Met51Arg)
c.317T>G (p.Met106Arg)
5g.88731796A>GCA315895MEF2Cc.365T>C (p.Met122Thr)
c.743T>C (p.Met248Thr)
n.680T>C
c.734T>C (p.Met245Thr)
c.797T>C (p.Met266Thr)
c.737T>C (p.Met246Thr)
n.161T>C
c.599T>C (p.Met200Thr)
c.32T>C (p.Met11Thr)
c.152T>C (p.Met51Thr)
c.317T>C (p.Met106Thr)
 dbSNP gnomAD v3 gnomAD v4
5g.88731796A>TCA360423297MEF2Cc.365T>A (p.Met122Lys)
c.743T>A (p.Met248Lys)
n.680T>A
c.734T>A (p.Met245Lys)
c.797T>A (p.Met266Lys)
c.737T>A (p.Met246Lys)
n.161T>A
c.599T>A (p.Met200Lys)
c.32T>A (p.Met11Lys)
c.152T>A (p.Met51Lys)
c.317T>A (p.Met106Lys)
5g.88731797T>ACA360423298MEF2Cc.364A>T (p.Met122Leu)
c.742A>T (p.Met248Leu)
n.679A>T
c.733A>T (p.Met245Leu)
c.796A>T (p.Met266Leu)
c.736A>T (p.Met246Leu)
n.160A>T
c.598A>T (p.Met200Leu)
c.31A>T (p.Met11Leu)
c.151A>T (p.Met51Leu)
c.316A>T (p.Met106Leu)
5g.88731797T>CCA360423299MEF2Cc.364A>G (p.Met122Val)
c.742A>G (p.Met248Val)
n.679A>G
c.733A>G (p.Met245Val)
c.796A>G (p.Met266Val)
c.736A>G (p.Met246Val)
n.160A>G
c.598A>G (p.Met200Val)
c.31A>G (p.Met11Val)
c.151A>G (p.Met51Val)
c.316A>G (p.Met106Val)
5g.88731797T>GCA360423300MEF2Cc.364A>C (p.Met122Leu)
c.742A>C (p.Met248Leu)
n.679A>C
c.733A>C (p.Met245Leu)
c.796A>C (p.Met266Leu)
c.736A>C (p.Met246Leu)
n.160A>C
c.598A>C (p.Met200Leu)
c.31A>C (p.Met11Leu)
c.151A>C (p.Met51Leu)
c.316A>C (p.Met106Leu)

Number of alleles fetched