Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.35761161C=CA2403556490RBFOX2c.874+41G= (n.874+41G=)
c.754+41G= (n.754+41G=)
c.*285+41G= (n.*285+41G=)
c.*261+41G= (n.*261+41G=)
c.*204+41G= (n.*204+41G=)
c.964+41G= (n.964+41G=)
c.697+41G= (n.697+41G=)
c.691+41G= (n.691+41G=)
c.694+41G= (n.694+41G=)
c.751+41G= (n.751+41G=)
c.309+41G=
c.961+41G= (n.961+41G=)
c.820+41G= (n.820+41G=)
c.817+41G= (n.817+41G=)
c.742+41G= (n.742+41G=)
c.790+41G= (n.790+41G=)
c.724+41G= (n.724+41G=)
c.886+41G= (n.886+41G=)
c.772+41G= (n.772+41G=)
c.769+41G= (n.769+41G=)
c.883+41G= (n.883+41G=)
c.739+41G= (n.739+41G=)
c.958+41G= (n.958+41G=)
c.868+41G= (n.868+41G=)
22g.35761161C>TCA639127746RBFOX2c.874+41G>A (n.874+41G>A)
c.754+41G>A (n.754+41G>A)
c.*285+41G>A (n.*285+41G>A)
c.*261+41G>A (n.*261+41G>A)
c.*204+41G>A (n.*204+41G>A)
c.964+41G>A (n.964+41G>A)
c.697+41G>A (n.697+41G>A)
c.691+41G>A (n.691+41G>A)
c.694+41G>A (n.694+41G>A)
c.751+41G>A (n.751+41G>A)
c.309+41G>A
c.961+41G>A (n.961+41G>A)
c.820+41G>A (n.820+41G>A)
c.817+41G>A (n.817+41G>A)
c.742+41G>A (n.742+41G>A)
c.790+41G>A (n.790+41G>A)
c.724+41G>A (n.724+41G>A)
c.886+41G>A (n.886+41G>A)
c.772+41G>A (n.772+41G>A)
c.769+41G>A (n.769+41G>A)
c.883+41G>A (n.883+41G>A)
c.739+41G>A (n.739+41G>A)
c.958+41G>A (n.958+41G>A)
c.868+41G>A (n.868+41G>A)
dbSNP gnomAD v2 gnomAD v4
22g.35761164C>ACA1025414123RBFOX2c.874+38G>T (n.874+38G>T)
c.754+38G>T (n.754+38G>T)
c.*285+38G>T (n.*285+38G>T)
c.*261+38G>T (n.*261+38G>T)
c.*204+38G>T (n.*204+38G>T)
c.964+38G>T (n.964+38G>T)
c.697+38G>T (n.697+38G>T)
c.691+38G>T (n.691+38G>T)
c.694+38G>T (n.694+38G>T)
c.751+38G>T (n.751+38G>T)
c.309+38G>T
c.961+38G>T (n.961+38G>T)
c.820+38G>T (n.820+38G>T)
c.817+38G>T (n.817+38G>T)
c.742+38G>T (n.742+38G>T)
c.790+38G>T (n.790+38G>T)
c.724+38G>T (n.724+38G>T)
c.886+38G>T (n.886+38G>T)
c.772+38G>T (n.772+38G>T)
c.769+38G>T (n.769+38G>T)
c.883+38G>T (n.883+38G>T)
c.739+38G>T (n.739+38G>T)
c.958+38G>T (n.958+38G>T)
c.868+38G>T (n.868+38G>T)
dbSNP gnomAD v3 gnomAD v4
22g.35761164C=CA2403556491RBFOX2c.874+38G= (n.874+38G=)
c.754+38G= (n.754+38G=)
c.*285+38G= (n.*285+38G=)
c.*261+38G= (n.*261+38G=)
c.*204+38G= (n.*204+38G=)
c.964+38G= (n.964+38G=)
c.697+38G= (n.697+38G=)
c.691+38G= (n.691+38G=)
c.694+38G= (n.694+38G=)
c.751+38G= (n.751+38G=)
c.309+38G=
c.961+38G= (n.961+38G=)
c.820+38G= (n.820+38G=)
c.817+38G= (n.817+38G=)
c.742+38G= (n.742+38G=)
c.790+38G= (n.790+38G=)
c.724+38G= (n.724+38G=)
c.886+38G= (n.886+38G=)
c.772+38G= (n.772+38G=)
c.769+38G= (n.769+38G=)
c.883+38G= (n.883+38G=)
c.739+38G= (n.739+38G=)
c.958+38G= (n.958+38G=)
c.868+38G= (n.868+38G=)
22g.35761164C>TCA2656389509RBFOX2c.874+38G>A (n.874+38G>A)
c.754+38G>A (n.754+38G>A)
c.*285+38G>A (n.*285+38G>A)
c.*261+38G>A (n.*261+38G>A)
c.*204+38G>A (n.*204+38G>A)
c.964+38G>A (n.964+38G>A)
c.697+38G>A (n.697+38G>A)
c.691+38G>A (n.691+38G>A)
c.694+38G>A (n.694+38G>A)
c.751+38G>A (n.751+38G>A)
c.309+38G>A
c.961+38G>A (n.961+38G>A)
c.820+38G>A (n.820+38G>A)
c.817+38G>A (n.817+38G>A)
c.742+38G>A (n.742+38G>A)
c.790+38G>A (n.790+38G>A)
c.724+38G>A (n.724+38G>A)
c.886+38G>A (n.886+38G>A)
c.772+38G>A (n.772+38G>A)
c.769+38G>A (n.769+38G>A)
c.883+38G>A (n.883+38G>A)
c.739+38G>A (n.739+38G>A)
c.958+38G>A (n.958+38G>A)
c.868+38G>A (n.868+38G>A)
gnomAD v4
22g.35761165A=CA2403556492RBFOX2c.874+37T= (n.874+37T=)
c.754+37T= (n.754+37T=)
c.*285+37T= (n.*285+37T=)
c.*261+37T= (n.*261+37T=)
c.*204+37T= (n.*204+37T=)
c.964+37T= (n.964+37T=)
c.697+37T= (n.697+37T=)
c.691+37T= (n.691+37T=)
c.694+37T= (n.694+37T=)
c.751+37T= (n.751+37T=)
c.309+37T=
c.961+37T= (n.961+37T=)
c.820+37T= (n.820+37T=)
c.817+37T= (n.817+37T=)
c.742+37T= (n.742+37T=)
c.790+37T= (n.790+37T=)
c.724+37T= (n.724+37T=)
c.886+37T= (n.886+37T=)
c.772+37T= (n.772+37T=)
c.769+37T= (n.769+37T=)
c.883+37T= (n.883+37T=)
c.739+37T= (n.739+37T=)
c.958+37T= (n.958+37T=)
c.868+37T= (n.868+37T=)
22g.35761165A>CCA639127749RBFOX2c.874+37T>G (n.874+37T>G)
c.754+37T>G (n.754+37T>G)
c.*285+37T>G (n.*285+37T>G)
c.*261+37T>G (n.*261+37T>G)
c.*204+37T>G (n.*204+37T>G)
c.964+37T>G (n.964+37T>G)
c.697+37T>G (n.697+37T>G)
c.691+37T>G (n.691+37T>G)
c.694+37T>G (n.694+37T>G)
c.751+37T>G (n.751+37T>G)
c.309+37T>G
c.961+37T>G (n.961+37T>G)
c.820+37T>G (n.820+37T>G)
c.817+37T>G (n.817+37T>G)
c.742+37T>G (n.742+37T>G)
c.790+37T>G (n.790+37T>G)
c.724+37T>G (n.724+37T>G)
c.886+37T>G (n.886+37T>G)
c.772+37T>G (n.772+37T>G)
c.769+37T>G (n.769+37T>G)
c.883+37T>G (n.883+37T>G)
c.739+37T>G (n.739+37T>G)
c.958+37T>G (n.958+37T>G)
c.868+37T>G (n.868+37T>G)
dbSNP gnomAD v2
22g.35761165A>GCA10206808RBFOX2c.874+37T>C (n.874+37T>C)
c.754+37T>C (n.754+37T>C)
c.*285+37T>C (n.*285+37T>C)
c.*261+37T>C (n.*261+37T>C)
c.*204+37T>C (n.*204+37T>C)
c.964+37T>C (n.964+37T>C)
c.697+37T>C (n.697+37T>C)
c.691+37T>C (n.691+37T>C)
c.694+37T>C (n.694+37T>C)
c.751+37T>C (n.751+37T>C)
c.309+37T>C
c.961+37T>C (n.961+37T>C)
c.820+37T>C (n.820+37T>C)
c.817+37T>C (n.817+37T>C)
c.742+37T>C (n.742+37T>C)
c.790+37T>C (n.790+37T>C)
c.724+37T>C (n.724+37T>C)
c.886+37T>C (n.886+37T>C)
c.772+37T>C (n.772+37T>C)
c.769+37T>C (n.769+37T>C)
c.883+37T>C (n.883+37T>C)
c.739+37T>C (n.739+37T>C)
c.958+37T>C (n.958+37T>C)
c.868+37T>C (n.868+37T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.35761166G>TCA2656389510RBFOX2c.874+36C>A (n.874+36C>A)
c.754+36C>A (n.754+36C>A)
c.*285+36C>A (n.*285+36C>A)
c.*261+36C>A (n.*261+36C>A)
c.*204+36C>A (n.*204+36C>A)
c.964+36C>A (n.964+36C>A)
c.697+36C>A (n.697+36C>A)
c.691+36C>A (n.691+36C>A)
c.694+36C>A (n.694+36C>A)
c.751+36C>A (n.751+36C>A)
c.309+36C>A
c.961+36C>A (n.961+36C>A)
c.820+36C>A (n.820+36C>A)
c.817+36C>A (n.817+36C>A)
c.742+36C>A (n.742+36C>A)
c.790+36C>A (n.790+36C>A)
c.724+36C>A (n.724+36C>A)
c.886+36C>A (n.886+36C>A)
c.772+36C>A (n.772+36C>A)
c.769+36C>A (n.769+36C>A)
c.883+36C>A (n.883+36C>A)
c.739+36C>A (n.739+36C>A)
c.958+36C>A (n.958+36C>A)
c.868+36C>A (n.868+36C>A)
gnomAD v4
22g.35761167T>CCA2656389511RBFOX2c.874+35A>G (n.874+35A>G)
c.754+35A>G (n.754+35A>G)
c.*285+35A>G (n.*285+35A>G)
c.*261+35A>G (n.*261+35A>G)
c.*204+35A>G (n.*204+35A>G)
c.964+35A>G (n.964+35A>G)
c.697+35A>G (n.697+35A>G)
c.691+35A>G (n.691+35A>G)
c.694+35A>G (n.694+35A>G)
c.751+35A>G (n.751+35A>G)
c.309+35A>G
c.961+35A>G (n.961+35A>G)
c.820+35A>G (n.820+35A>G)
c.817+35A>G (n.817+35A>G)
c.742+35A>G (n.742+35A>G)
c.790+35A>G (n.790+35A>G)
c.724+35A>G (n.724+35A>G)
c.886+35A>G (n.886+35A>G)
c.772+35A>G (n.772+35A>G)
c.769+35A>G (n.769+35A>G)
c.883+35A>G (n.883+35A>G)
c.739+35A>G (n.739+35A>G)
c.958+35A>G (n.958+35A>G)
c.868+35A>G (n.868+35A>G)
gnomAD v4
22g.35761169A=CA2403556493RBFOX2c.874+33T= (n.874+33T=)
c.754+33T= (n.754+33T=)
c.*285+33T= (n.*285+33T=)
c.*261+33T= (n.*261+33T=)
c.*204+33T= (n.*204+33T=)
c.964+33T= (n.964+33T=)
c.697+33T= (n.697+33T=)
c.691+33T= (n.691+33T=)
c.694+33T= (n.694+33T=)
c.751+33T= (n.751+33T=)
c.309+33T=
c.961+33T= (n.961+33T=)
c.820+33T= (n.820+33T=)
c.817+33T= (n.817+33T=)
c.742+33T= (n.742+33T=)
c.790+33T= (n.790+33T=)
c.724+33T= (n.724+33T=)
c.886+33T= (n.886+33T=)
c.772+33T= (n.772+33T=)
c.769+33T= (n.769+33T=)
c.883+33T= (n.883+33T=)
c.739+33T= (n.739+33T=)
c.958+33T= (n.958+33T=)
c.868+33T= (n.868+33T=)
22g.35761169A>TCA639127753RBFOX2c.874+33T>A (n.874+33T>A)
c.754+33T>A (n.754+33T>A)
c.*285+33T>A (n.*285+33T>A)
c.*261+33T>A (n.*261+33T>A)
c.*204+33T>A (n.*204+33T>A)
c.964+33T>A (n.964+33T>A)
c.697+33T>A (n.697+33T>A)
c.691+33T>A (n.691+33T>A)
c.694+33T>A (n.694+33T>A)
c.751+33T>A (n.751+33T>A)
c.309+33T>A
c.961+33T>A (n.961+33T>A)
c.820+33T>A (n.820+33T>A)
c.817+33T>A (n.817+33T>A)
c.742+33T>A (n.742+33T>A)
c.790+33T>A (n.790+33T>A)
c.724+33T>A (n.724+33T>A)
c.886+33T>A (n.886+33T>A)
c.772+33T>A (n.772+33T>A)
c.769+33T>A (n.769+33T>A)
c.883+33T>A (n.883+33T>A)
c.739+33T>A (n.739+33T>A)
c.958+33T>A (n.958+33T>A)
c.868+33T>A (n.868+33T>A)
dbSNP gnomAD v2 gnomAD v4
22g.35761174C>TCA2656389512RBFOX2c.874+28G>A (n.874+28G>A)
c.754+28G>A (n.754+28G>A)
c.*285+28G>A (n.*285+28G>A)
c.*261+28G>A (n.*261+28G>A)
c.*204+28G>A (n.*204+28G>A)
c.964+28G>A (n.964+28G>A)
c.697+28G>A (n.697+28G>A)
c.691+28G>A (n.691+28G>A)
c.694+28G>A (n.694+28G>A)
c.751+28G>A (n.751+28G>A)
c.309+28G>A
c.961+28G>A (n.961+28G>A)
c.820+28G>A (n.820+28G>A)
c.817+28G>A (n.817+28G>A)
c.742+28G>A (n.742+28G>A)
c.790+28G>A (n.790+28G>A)
c.724+28G>A (n.724+28G>A)
c.886+28G>A (n.886+28G>A)
c.772+28G>A (n.772+28G>A)
c.769+28G>A (n.769+28G>A)
c.883+28G>A (n.883+28G>A)
c.739+28G>A (n.739+28G>A)
c.958+28G>A (n.958+28G>A)
c.868+28G>A (n.868+28G>A)
gnomAD v4
22g.35761175C=CA2403556494RBFOX2c.874+27G= (n.874+27G=)
c.754+27G= (n.754+27G=)
c.*285+27G= (n.*285+27G=)
c.*261+27G= (n.*261+27G=)
c.*204+27G= (n.*204+27G=)
c.964+27G= (n.964+27G=)
c.697+27G= (n.697+27G=)
c.691+27G= (n.691+27G=)
c.694+27G= (n.694+27G=)
c.751+27G= (n.751+27G=)
c.309+27G=
c.961+27G= (n.961+27G=)
c.820+27G= (n.820+27G=)
c.817+27G= (n.817+27G=)
c.742+27G= (n.742+27G=)
c.790+27G= (n.790+27G=)
c.724+27G= (n.724+27G=)
c.886+27G= (n.886+27G=)
c.772+27G= (n.772+27G=)
c.769+27G= (n.769+27G=)
c.883+27G= (n.883+27G=)
c.739+27G= (n.739+27G=)
c.958+27G= (n.958+27G=)
c.868+27G= (n.868+27G=)
22g.35761175C>TCA10206809RBFOX2c.874+27G>A (n.874+27G>A)
c.754+27G>A (n.754+27G>A)
c.*285+27G>A (n.*285+27G>A)
c.*261+27G>A (n.*261+27G>A)
c.*204+27G>A (n.*204+27G>A)
c.964+27G>A (n.964+27G>A)
c.697+27G>A (n.697+27G>A)
c.691+27G>A (n.691+27G>A)
c.694+27G>A (n.694+27G>A)
c.751+27G>A (n.751+27G>A)
c.309+27G>A
c.961+27G>A (n.961+27G>A)
c.820+27G>A (n.820+27G>A)
c.817+27G>A (n.817+27G>A)
c.742+27G>A (n.742+27G>A)
c.790+27G>A (n.790+27G>A)
c.724+27G>A (n.724+27G>A)
c.886+27G>A (n.886+27G>A)
c.772+27G>A (n.772+27G>A)
c.769+27G>A (n.769+27G>A)
c.883+27G>A (n.883+27G>A)
c.739+27G>A (n.739+27G>A)
c.958+27G>A (n.958+27G>A)
c.868+27G>A (n.868+27G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.35761176A>GCA2656389513RBFOX2c.874+26T>C (n.874+26T>C)
c.754+26T>C (n.754+26T>C)
c.*285+26T>C (n.*285+26T>C)
c.*261+26T>C (n.*261+26T>C)
c.*204+26T>C (n.*204+26T>C)
c.964+26T>C (n.964+26T>C)
c.697+26T>C (n.697+26T>C)
c.691+26T>C (n.691+26T>C)
c.694+26T>C (n.694+26T>C)
c.751+26T>C (n.751+26T>C)
c.309+26T>C
c.961+26T>C (n.961+26T>C)
c.820+26T>C (n.820+26T>C)
c.817+26T>C (n.817+26T>C)
c.742+26T>C (n.742+26T>C)
c.790+26T>C (n.790+26T>C)
c.724+26T>C (n.724+26T>C)
c.886+26T>C (n.886+26T>C)
c.772+26T>C (n.772+26T>C)
c.769+26T>C (n.769+26T>C)
c.883+26T>C (n.883+26T>C)
c.739+26T>C (n.739+26T>C)
c.958+26T>C (n.958+26T>C)
c.868+26T>C (n.868+26T>C)
gnomAD v4
22g.35761177T>CCA10206810RBFOX2c.874+25A>G (n.874+25A>G)
c.754+25A>G (n.754+25A>G)
c.*285+25A>G (n.*285+25A>G)
c.*261+25A>G (n.*261+25A>G)
c.*204+25A>G (n.*204+25A>G)
c.964+25A>G (n.964+25A>G)
c.697+25A>G (n.697+25A>G)
c.691+25A>G (n.691+25A>G)
c.694+25A>G (n.694+25A>G)
c.751+25A>G (n.751+25A>G)
c.309+25A>G
c.961+25A>G (n.961+25A>G)
c.820+25A>G (n.820+25A>G)
c.817+25A>G (n.817+25A>G)
c.742+25A>G (n.742+25A>G)
c.790+25A>G (n.790+25A>G)
c.724+25A>G (n.724+25A>G)
c.886+25A>G (n.886+25A>G)
c.772+25A>G (n.772+25A>G)
c.769+25A>G (n.769+25A>G)
c.883+25A>G (n.883+25A>G)
c.739+25A>G (n.739+25A>G)
c.958+25A>G (n.958+25A>G)
c.868+25A>G (n.868+25A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.35761177T=CA2403556495RBFOX2c.874+25A= (n.874+25A=)
c.754+25A= (n.754+25A=)
c.*285+25A= (n.*285+25A=)
c.*261+25A= (n.*261+25A=)
c.*204+25A= (n.*204+25A=)
c.964+25A= (n.964+25A=)
c.697+25A= (n.697+25A=)
c.691+25A= (n.691+25A=)
c.694+25A= (n.694+25A=)
c.751+25A= (n.751+25A=)
c.309+25A=
c.961+25A= (n.961+25A=)
c.820+25A= (n.820+25A=)
c.817+25A= (n.817+25A=)
c.742+25A= (n.742+25A=)
c.790+25A= (n.790+25A=)
c.724+25A= (n.724+25A=)
c.886+25A= (n.886+25A=)
c.772+25A= (n.772+25A=)
c.769+25A= (n.769+25A=)
c.883+25A= (n.883+25A=)
c.739+25A= (n.739+25A=)
c.958+25A= (n.958+25A=)
c.868+25A= (n.868+25A=)
22g.35761178G>ACA10206811RBFOX2c.874+24C>T (n.874+24C>T)
c.754+24C>T (n.754+24C>T)
c.*285+24C>T (n.*285+24C>T)
c.*261+24C>T (n.*261+24C>T)
c.*204+24C>T (n.*204+24C>T)
c.964+24C>T (n.964+24C>T)
c.697+24C>T (n.697+24C>T)
c.691+24C>T (n.691+24C>T)
c.694+24C>T (n.694+24C>T)
c.751+24C>T (n.751+24C>T)
c.309+24C>T
c.961+24C>T (n.961+24C>T)
c.820+24C>T (n.820+24C>T)
c.817+24C>T (n.817+24C>T)
c.742+24C>T (n.742+24C>T)
c.790+24C>T (n.790+24C>T)
c.724+24C>T (n.724+24C>T)
c.886+24C>T (n.886+24C>T)
c.772+24C>T (n.772+24C>T)
c.769+24C>T (n.769+24C>T)
c.883+24C>T (n.883+24C>T)
c.739+24C>T (n.739+24C>T)
c.958+24C>T (n.958+24C>T)
c.868+24C>T (n.868+24C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.35761178G=CA2403556496RBFOX2c.874+24C= (n.874+24C=)
c.754+24C= (n.754+24C=)
c.*285+24C= (n.*285+24C=)
c.*261+24C= (n.*261+24C=)
c.*204+24C= (n.*204+24C=)
c.964+24C= (n.964+24C=)
c.697+24C= (n.697+24C=)
c.691+24C= (n.691+24C=)
c.694+24C= (n.694+24C=)
c.751+24C= (n.751+24C=)
c.309+24C=
c.961+24C= (n.961+24C=)
c.820+24C= (n.820+24C=)
c.817+24C= (n.817+24C=)
c.742+24C= (n.742+24C=)
c.790+24C= (n.790+24C=)
c.724+24C= (n.724+24C=)
c.886+24C= (n.886+24C=)
c.772+24C= (n.772+24C=)
c.769+24C= (n.769+24C=)
c.883+24C= (n.883+24C=)
c.739+24C= (n.739+24C=)
c.958+24C= (n.958+24C=)
c.868+24C= (n.868+24C=)
22g.35761179C=CA2403556497RBFOX2c.874+23G= (n.874+23G=)
c.754+23G= (n.754+23G=)
c.*285+23G= (n.*285+23G=)
c.*261+23G= (n.*261+23G=)
c.*204+23G= (n.*204+23G=)
c.964+23G= (n.964+23G=)
c.697+23G= (n.697+23G=)
c.691+23G= (n.691+23G=)
c.694+23G= (n.694+23G=)
c.751+23G= (n.751+23G=)
c.309+23G=
c.961+23G= (n.961+23G=)
c.820+23G= (n.820+23G=)
c.817+23G= (n.817+23G=)
c.742+23G= (n.742+23G=)
c.790+23G= (n.790+23G=)
c.724+23G= (n.724+23G=)
c.886+23G= (n.886+23G=)
c.772+23G= (n.772+23G=)
c.769+23G= (n.769+23G=)
c.883+23G= (n.883+23G=)
c.739+23G= (n.739+23G=)
c.958+23G= (n.958+23G=)
c.868+23G= (n.868+23G=)
22g.35761179C>TCA2403556498RBFOX2c.874+23G>A (n.874+23G>A)
c.754+23G>A (n.754+23G>A)
c.*285+23G>A (n.*285+23G>A)
c.*261+23G>A (n.*261+23G>A)
c.*204+23G>A (n.*204+23G>A)
c.964+23G>A (n.964+23G>A)
c.697+23G>A (n.697+23G>A)
c.691+23G>A (n.691+23G>A)
c.694+23G>A (n.694+23G>A)
c.751+23G>A (n.751+23G>A)
c.309+23G>A
c.961+23G>A (n.961+23G>A)
c.820+23G>A (n.820+23G>A)
c.817+23G>A (n.817+23G>A)
c.742+23G>A (n.742+23G>A)
c.790+23G>A (n.790+23G>A)
c.724+23G>A (n.724+23G>A)
c.886+23G>A (n.886+23G>A)
c.772+23G>A (n.772+23G>A)
c.769+23G>A (n.769+23G>A)
c.883+23G>A (n.883+23G>A)
c.739+23G>A (n.739+23G>A)
c.958+23G>A (n.958+23G>A)
c.868+23G>A (n.868+23G>A)
dbSNP gnomAD v4
22g.35761180_35761190delinsCAGGCCAACATCA2403556499RBFOX2c.874+12_874+22delinsATGTTGGCCTG (n.874+12_874+22delinsATGTTGGCCTG)
c.754+12_754+22delinsATGTTGGCCTG (n.754+12_754+22delinsATGTTGGCCTG)
c.*285+12_*285+22delinsATGTTGGCCTG (n.*285+12_*285+22delinsATGTTGGCCTG)
c.*261+12_*261+22delinsATGTTGGCCTG (n.*261+12_*261+22delinsATGTTGGCCTG)
c.*204+12_*204+22delinsATGTTGGCCTG (n.*204+12_*204+22delinsATGTTGGCCTG)
c.964+12_964+22delinsATGTTGGCCTG (n.964+12_964+22delinsATGTTGGCCTG)
c.697+12_697+22delinsATGTTGGCCTG (n.697+12_697+22delinsATGTTGGCCTG)
c.691+12_691+22delinsATGTTGGCCTG (n.691+12_691+22delinsATGTTGGCCTG)
c.694+12_694+22delinsATGTTGGCCTG (n.694+12_694+22delinsATGTTGGCCTG)
c.751+12_751+22delinsATGTTGGCCTG (n.751+12_751+22delinsATGTTGGCCTG)
c.309+12_309+22delinsATGTTGGCCTG
c.961+12_961+22delinsATGTTGGCCTG (n.961+12_961+22delinsATGTTGGCCTG)
c.820+12_820+22delinsATGTTGGCCTG (n.820+12_820+22delinsATGTTGGCCTG)
c.817+12_817+22delinsATGTTGGCCTG (n.817+12_817+22delinsATGTTGGCCTG)
c.742+12_742+22delinsATGTTGGCCTG (n.742+12_742+22delinsATGTTGGCCTG)
c.790+12_790+22delinsATGTTGGCCTG (n.790+12_790+22delinsATGTTGGCCTG)
c.724+12_724+22delinsATGTTGGCCTG (n.724+12_724+22delinsATGTTGGCCTG)
c.886+12_886+22delinsATGTTGGCCTG (n.886+12_886+22delinsATGTTGGCCTG)
c.772+12_772+22delinsATGTTGGCCTG (n.772+12_772+22delinsATGTTGGCCTG)
c.769+12_769+22delinsATGTTGGCCTG (n.769+12_769+22delinsATGTTGGCCTG)
c.883+12_883+22delinsATGTTGGCCTG (n.883+12_883+22delinsATGTTGGCCTG)
c.739+12_739+22delinsATGTTGGCCTG (n.739+12_739+22delinsATGTTGGCCTG)
c.958+12_958+22delinsATGTTGGCCTG (n.958+12_958+22delinsATGTTGGCCTG)
c.868+12_868+22delinsATGTTGGCCTG (n.868+12_868+22delinsATGTTGGCCTG)
22g.35761181A>CCA2656389514RBFOX2c.874+21T>G (n.874+21T>G)
c.754+21T>G (n.754+21T>G)
c.*285+21T>G (n.*285+21T>G)
c.*261+21T>G (n.*261+21T>G)
c.*204+21T>G (n.*204+21T>G)
c.964+21T>G (n.964+21T>G)
c.697+21T>G (n.697+21T>G)
c.691+21T>G (n.691+21T>G)
c.694+21T>G (n.694+21T>G)
c.751+21T>G (n.751+21T>G)
c.309+21T>G
c.961+21T>G (n.961+21T>G)
c.820+21T>G (n.820+21T>G)
c.817+21T>G (n.817+21T>G)
c.742+21T>G (n.742+21T>G)
c.790+21T>G (n.790+21T>G)
c.724+21T>G (n.724+21T>G)
c.886+21T>G (n.886+21T>G)
c.772+21T>G (n.772+21T>G)
c.769+21T>G (n.769+21T>G)
c.883+21T>G (n.883+21T>G)
c.739+21T>G (n.739+21T>G)
c.958+21T>G (n.958+21T>G)
c.868+21T>G (n.868+21T>G)
gnomAD v4
22g.35761185_35761194delCA10206812RBFOX2c.874+12_874+21del (n.874+12_874+21del)
c.754+12_754+21del (n.754+12_754+21del)
c.*285+12_*285+21del (n.*285+12_*285+21del)
c.*261+12_*261+21del (n.*261+12_*261+21del)
c.*204+12_*204+21del (n.*204+12_*204+21del)
c.964+12_964+21del (n.964+12_964+21del)
c.697+12_697+21del (n.697+12_697+21del)
c.691+12_691+21del (n.691+12_691+21del)
c.694+12_694+21del (n.694+12_694+21del)
c.751+12_751+21del (n.751+12_751+21del)
c.309+12_309+21del
c.961+12_961+21del (n.961+12_961+21del)
c.820+12_820+21del (n.820+12_820+21del)
c.817+12_817+21del (n.817+12_817+21del)
c.742+12_742+21del (n.742+12_742+21del)
c.790+12_790+21del (n.790+12_790+21del)
c.724+12_724+21del (n.724+12_724+21del)
c.886+12_886+21del (n.886+12_886+21del)
c.772+12_772+21del (n.772+12_772+21del)
c.769+12_769+21del (n.769+12_769+21del)
c.883+12_883+21del (n.883+12_883+21del)
c.739+12_739+21del (n.739+12_739+21del)
c.958+12_958+21del (n.958+12_958+21del)
c.868+12_868+21del (n.868+12_868+21del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.35761182G>CCA2656389515RBFOX2c.874+20C>G (n.874+20C>G)
c.754+20C>G (n.754+20C>G)
c.*285+20C>G (n.*285+20C>G)
c.*261+20C>G (n.*261+20C>G)
c.*204+20C>G (n.*204+20C>G)
c.964+20C>G (n.964+20C>G)
c.697+20C>G (n.697+20C>G)
c.691+20C>G (n.691+20C>G)
c.694+20C>G (n.694+20C>G)
c.751+20C>G (n.751+20C>G)
c.309+20C>G
c.961+20C>G (n.961+20C>G)
c.820+20C>G (n.820+20C>G)
c.817+20C>G (n.817+20C>G)
c.742+20C>G (n.742+20C>G)
c.790+20C>G (n.790+20C>G)
c.724+20C>G (n.724+20C>G)
c.886+20C>G (n.886+20C>G)
c.772+20C>G (n.772+20C>G)
c.769+20C>G (n.769+20C>G)
c.883+20C>G (n.883+20C>G)
c.739+20C>G (n.739+20C>G)
c.958+20C>G (n.958+20C>G)
c.868+20C>G (n.868+20C>G)
gnomAD v4
22g.35761183G>ACA10206813RBFOX2c.874+19C>T (n.874+19C>T)
c.754+19C>T (n.754+19C>T)
c.*285+19C>T (n.*285+19C>T)
c.*261+19C>T (n.*261+19C>T)
c.*204+19C>T (n.*204+19C>T)
c.964+19C>T (n.964+19C>T)
c.697+19C>T (n.697+19C>T)
c.691+19C>T (n.691+19C>T)
c.694+19C>T (n.694+19C>T)
c.751+19C>T (n.751+19C>T)
c.309+19C>T
c.961+19C>T (n.961+19C>T)
c.820+19C>T (n.820+19C>T)
c.817+19C>T (n.817+19C>T)
c.742+19C>T (n.742+19C>T)
c.790+19C>T (n.790+19C>T)
c.724+19C>T (n.724+19C>T)
c.886+19C>T (n.886+19C>T)
c.772+19C>T (n.772+19C>T)
c.769+19C>T (n.769+19C>T)
c.883+19C>T (n.883+19C>T)
c.739+19C>T (n.739+19C>T)
c.958+19C>T (n.958+19C>T)
c.868+19C>T (n.868+19C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.35761183G=CA2403556500RBFOX2c.874+19C= (n.874+19C=)
c.754+19C= (n.754+19C=)
c.*285+19C= (n.*285+19C=)
c.*261+19C= (n.*261+19C=)
c.*204+19C= (n.*204+19C=)
c.964+19C= (n.964+19C=)
c.697+19C= (n.697+19C=)
c.691+19C= (n.691+19C=)
c.694+19C= (n.694+19C=)
c.751+19C= (n.751+19C=)
c.309+19C=
c.961+19C= (n.961+19C=)
c.820+19C= (n.820+19C=)
c.817+19C= (n.817+19C=)
c.742+19C= (n.742+19C=)
c.790+19C= (n.790+19C=)
c.724+19C= (n.724+19C=)
c.886+19C= (n.886+19C=)
c.772+19C= (n.772+19C=)
c.769+19C= (n.769+19C=)
c.883+19C= (n.883+19C=)
c.739+19C= (n.739+19C=)
c.958+19C= (n.958+19C=)
c.868+19C= (n.868+19C=)
22g.35761183G>TCA2656389516RBFOX2c.874+19C>A (n.874+19C>A)
c.754+19C>A (n.754+19C>A)
c.*285+19C>A (n.*285+19C>A)
c.*261+19C>A (n.*261+19C>A)
c.*204+19C>A (n.*204+19C>A)
c.964+19C>A (n.964+19C>A)
c.697+19C>A (n.697+19C>A)
c.691+19C>A (n.691+19C>A)
c.694+19C>A (n.694+19C>A)
c.751+19C>A (n.751+19C>A)
c.309+19C>A
c.961+19C>A (n.961+19C>A)
c.820+19C>A (n.820+19C>A)
c.817+19C>A (n.817+19C>A)
c.742+19C>A (n.742+19C>A)
c.790+19C>A (n.790+19C>A)
c.724+19C>A (n.724+19C>A)
c.886+19C>A (n.886+19C>A)
c.772+19C>A (n.772+19C>A)
c.769+19C>A (n.769+19C>A)
c.883+19C>A (n.883+19C>A)
c.739+19C>A (n.739+19C>A)
c.958+19C>A (n.958+19C>A)
c.868+19C>A (n.868+19C>A)
gnomAD v4
22g.35761184C>ACA639127759RBFOX2c.874+18G>T (n.874+18G>T)
c.754+18G>T (n.754+18G>T)
c.*285+18G>T (n.*285+18G>T)
c.*261+18G>T (n.*261+18G>T)
c.*204+18G>T (n.*204+18G>T)
c.964+18G>T (n.964+18G>T)
c.697+18G>T (n.697+18G>T)
c.691+18G>T (n.691+18G>T)
c.694+18G>T (n.694+18G>T)
c.751+18G>T (n.751+18G>T)
c.309+18G>T
c.961+18G>T (n.961+18G>T)
c.820+18G>T (n.820+18G>T)
c.817+18G>T (n.817+18G>T)
c.742+18G>T (n.742+18G>T)
c.790+18G>T (n.790+18G>T)
c.724+18G>T (n.724+18G>T)
c.886+18G>T (n.886+18G>T)
c.772+18G>T (n.772+18G>T)
c.769+18G>T (n.769+18G>T)
c.883+18G>T (n.883+18G>T)
c.739+18G>T (n.739+18G>T)
c.958+18G>T (n.958+18G>T)
c.868+18G>T (n.868+18G>T)
dbSNP gnomAD v2 gnomAD v4
22g.35761184C=CA2403556501RBFOX2c.874+18G= (n.874+18G=)
c.754+18G= (n.754+18G=)
c.*285+18G= (n.*285+18G=)
c.*261+18G= (n.*261+18G=)
c.*204+18G= (n.*204+18G=)
c.964+18G= (n.964+18G=)
c.697+18G= (n.697+18G=)
c.691+18G= (n.691+18G=)
c.694+18G= (n.694+18G=)
c.751+18G= (n.751+18G=)
c.309+18G=
c.961+18G= (n.961+18G=)
c.820+18G= (n.820+18G=)
c.817+18G= (n.817+18G=)
c.742+18G= (n.742+18G=)
c.790+18G= (n.790+18G=)
c.724+18G= (n.724+18G=)
c.886+18G= (n.886+18G=)
c.772+18G= (n.772+18G=)
c.769+18G= (n.769+18G=)
c.883+18G= (n.883+18G=)
c.739+18G= (n.739+18G=)
c.958+18G= (n.958+18G=)
c.868+18G= (n.868+18G=)
22g.35761184C>GCA1025414128RBFOX2c.874+18G>C (n.874+18G>C)
c.754+18G>C (n.754+18G>C)
c.*285+18G>C (n.*285+18G>C)
c.*261+18G>C (n.*261+18G>C)
c.*204+18G>C (n.*204+18G>C)
c.964+18G>C (n.964+18G>C)
c.697+18G>C (n.697+18G>C)
c.691+18G>C (n.691+18G>C)
c.694+18G>C (n.694+18G>C)
c.751+18G>C (n.751+18G>C)
c.309+18G>C
c.961+18G>C (n.961+18G>C)
c.820+18G>C (n.820+18G>C)
c.817+18G>C (n.817+18G>C)
c.742+18G>C (n.742+18G>C)
c.790+18G>C (n.790+18G>C)
c.724+18G>C (n.724+18G>C)
c.886+18G>C (n.886+18G>C)
c.772+18G>C (n.772+18G>C)
c.769+18G>C (n.769+18G>C)
c.883+18G>C (n.883+18G>C)
c.739+18G>C (n.739+18G>C)
c.958+18G>C (n.958+18G>C)
c.868+18G>C (n.868+18G>C)
dbSNP gnomAD v3 gnomAD v4
22g.35761187_35761189dupCA2403556502RBFOX2c.874+15_874+17dup (n.874+15_874+17dup)
c.754+15_754+17dup (n.754+15_754+17dup)
c.*285+15_*285+17dup (n.*285+15_*285+17dup)
c.*261+15_*261+17dup (n.*261+15_*261+17dup)
c.*204+15_*204+17dup (n.*204+15_*204+17dup)
c.964+15_964+17dup (n.964+15_964+17dup)
c.697+15_697+17dup (n.697+15_697+17dup)
c.691+15_691+17dup (n.691+15_691+17dup)
c.694+15_694+17dup (n.694+15_694+17dup)
c.751+15_751+17dup (n.751+15_751+17dup)
c.309+15_309+17dup
c.961+15_961+17dup (n.961+15_961+17dup)
c.820+15_820+17dup (n.820+15_820+17dup)
c.817+15_817+17dup (n.817+15_817+17dup)
c.742+15_742+17dup (n.742+15_742+17dup)
c.790+15_790+17dup (n.790+15_790+17dup)
c.724+15_724+17dup (n.724+15_724+17dup)
c.886+15_886+17dup (n.886+15_886+17dup)
c.772+15_772+17dup (n.772+15_772+17dup)
c.769+15_769+17dup (n.769+15_769+17dup)
c.883+15_883+17dup (n.883+15_883+17dup)
c.739+15_739+17dup (n.739+15_739+17dup)
c.958+15_958+17dup (n.958+15_958+17dup)
c.868+15_868+17dup (n.868+15_868+17dup)
dbSNP
22g.35761188_35761190delinsCATCA2403556503RBFOX2c.874+12_874+14delinsATG (n.874+12_874+14delinsATG)
c.754+12_754+14delinsATG (n.754+12_754+14delinsATG)
c.*285+12_*285+14delinsATG (n.*285+12_*285+14delinsATG)
c.*261+12_*261+14delinsATG (n.*261+12_*261+14delinsATG)
c.*204+12_*204+14delinsATG (n.*204+12_*204+14delinsATG)
c.964+12_964+14delinsATG (n.964+12_964+14delinsATG)
c.697+12_697+14delinsATG (n.697+12_697+14delinsATG)
c.691+12_691+14delinsATG (n.691+12_691+14delinsATG)
c.694+12_694+14delinsATG (n.694+12_694+14delinsATG)
c.751+12_751+14delinsATG (n.751+12_751+14delinsATG)
c.309+12_309+14delinsATG
c.961+12_961+14delinsATG (n.961+12_961+14delinsATG)
c.820+12_820+14delinsATG (n.820+12_820+14delinsATG)
c.817+12_817+14delinsATG (n.817+12_817+14delinsATG)
c.742+12_742+14delinsATG (n.742+12_742+14delinsATG)
c.790+12_790+14delinsATG (n.790+12_790+14delinsATG)
c.724+12_724+14delinsATG (n.724+12_724+14delinsATG)
c.886+12_886+14delinsATG (n.886+12_886+14delinsATG)
c.772+12_772+14delinsATG (n.772+12_772+14delinsATG)
c.769+12_769+14delinsATG (n.769+12_769+14delinsATG)
c.883+12_883+14delinsATG (n.883+12_883+14delinsATG)
c.739+12_739+14delinsATG (n.739+12_739+14delinsATG)
c.958+12_958+14delinsATG (n.958+12_958+14delinsATG)
c.868+12_868+14delinsATG (n.868+12_868+14delinsATG)
22g.35761189A>GCA2656389517RBFOX2c.874+13T>C (n.874+13T>C)
c.754+13T>C (n.754+13T>C)
c.*285+13T>C (n.*285+13T>C)
c.*261+13T>C (n.*261+13T>C)
c.*204+13T>C (n.*204+13T>C)
c.964+13T>C (n.964+13T>C)
c.697+13T>C (n.697+13T>C)
c.691+13T>C (n.691+13T>C)
c.694+13T>C (n.694+13T>C)
c.751+13T>C (n.751+13T>C)
c.309+13T>C
c.961+13T>C (n.961+13T>C)
c.820+13T>C (n.820+13T>C)
c.817+13T>C (n.817+13T>C)
c.742+13T>C (n.742+13T>C)
c.790+13T>C (n.790+13T>C)
c.724+13T>C (n.724+13T>C)
c.886+13T>C (n.886+13T>C)
c.772+13T>C (n.772+13T>C)
c.769+13T>C (n.769+13T>C)
c.883+13T>C (n.883+13T>C)
c.739+13T>C (n.739+13T>C)
c.958+13T>C (n.958+13T>C)
c.868+13T>C (n.868+13T>C)
gnomAD v4
22g.35761190_35761191delCA323545554RBFOX2c.874+12_874+13del (n.874+12_874+13del)
c.754+12_754+13del (n.754+12_754+13del)
c.*285+12_*285+13del (n.*285+12_*285+13del)
c.*261+12_*261+13del (n.*261+12_*261+13del)
c.*204+12_*204+13del (n.*204+12_*204+13del)
c.964+12_964+13del (n.964+12_964+13del)
c.697+12_697+13del (n.697+12_697+13del)
c.691+12_691+13del (n.691+12_691+13del)
c.694+12_694+13del (n.694+12_694+13del)
c.751+12_751+13del (n.751+12_751+13del)
c.309+12_309+13del
c.961+12_961+13del (n.961+12_961+13del)
c.820+12_820+13del (n.820+12_820+13del)
c.817+12_817+13del (n.817+12_817+13del)
c.742+12_742+13del (n.742+12_742+13del)
c.790+12_790+13del (n.790+12_790+13del)
c.724+12_724+13del (n.724+12_724+13del)
c.886+12_886+13del (n.886+12_886+13del)
c.772+12_772+13del (n.772+12_772+13del)
c.769+12_769+13del (n.769+12_769+13del)
c.883+12_883+13del (n.883+12_883+13del)
c.739+12_739+13del (n.739+12_739+13del)
c.958+12_958+13del (n.958+12_958+13del)
c.868+12_868+13del (n.868+12_868+13del)
dbSNP gnomAD v3 gnomAD v4
22g.35761190T>CCA10206814RBFOX2c.874+12A>G (n.874+12A>G)
c.754+12A>G (n.754+12A>G)
c.*285+12A>G (n.*285+12A>G)
c.*261+12A>G (n.*261+12A>G)
c.*204+12A>G (n.*204+12A>G)
c.964+12A>G (n.964+12A>G)
c.697+12A>G (n.697+12A>G)
c.691+12A>G (n.691+12A>G)
c.694+12A>G (n.694+12A>G)
c.751+12A>G (n.751+12A>G)
c.309+12A>G
c.961+12A>G (n.961+12A>G)
c.820+12A>G (n.820+12A>G)
c.817+12A>G (n.817+12A>G)
c.742+12A>G (n.742+12A>G)
c.790+12A>G (n.790+12A>G)
c.724+12A>G (n.724+12A>G)
c.886+12A>G (n.886+12A>G)
c.772+12A>G (n.772+12A>G)
c.769+12A>G (n.769+12A>G)
c.883+12A>G (n.883+12A>G)
c.739+12A>G (n.739+12A>G)
c.958+12A>G (n.958+12A>G)
c.868+12A>G (n.868+12A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.35761190T=CA2403556504RBFOX2c.874+12A= (n.874+12A=)
c.754+12A= (n.754+12A=)
c.*285+12A= (n.*285+12A=)
c.*261+12A= (n.*261+12A=)
c.*204+12A= (n.*204+12A=)
c.964+12A= (n.964+12A=)
c.697+12A= (n.697+12A=)
c.691+12A= (n.691+12A=)
c.694+12A= (n.694+12A=)
c.751+12A= (n.751+12A=)
c.309+12A=
c.961+12A= (n.961+12A=)
c.820+12A= (n.820+12A=)
c.817+12A= (n.817+12A=)
c.742+12A= (n.742+12A=)
c.790+12A= (n.790+12A=)
c.724+12A= (n.724+12A=)
c.886+12A= (n.886+12A=)
c.772+12A= (n.772+12A=)
c.769+12A= (n.769+12A=)
c.883+12A= (n.883+12A=)
c.739+12A= (n.739+12A=)
c.958+12A= (n.958+12A=)
c.868+12A= (n.868+12A=)
22g.35761193G>ACA2541211595RBFOX2c.874+9C>T (n.874+9C>T)
c.754+9C>T (n.754+9C>T)
c.*285+9C>T (n.*285+9C>T)
c.*261+9C>T (n.*261+9C>T)
c.*204+9C>T (n.*204+9C>T)
c.964+9C>T (n.964+9C>T)
c.697+9C>T (n.697+9C>T)
c.691+9C>T (n.691+9C>T)
c.694+9C>T (n.694+9C>T)
c.751+9C>T (n.751+9C>T)
c.309+9C>T
c.961+9C>T (n.961+9C>T)
c.820+9C>T (n.820+9C>T)
c.817+9C>T (n.817+9C>T)
c.742+9C>T (n.742+9C>T)
c.790+9C>T (n.790+9C>T)
c.724+9C>T (n.724+9C>T)
c.886+9C>T (n.886+9C>T)
c.772+9C>T (n.772+9C>T)
c.769+9C>T (n.769+9C>T)
c.883+9C>T (n.883+9C>T)
c.739+9C>T (n.739+9C>T)
c.958+9C>T (n.958+9C>T)
c.868+9C>T (n.868+9C>T)
22g.35761193G>CCA2656389518RBFOX2c.874+9C>G (n.874+9C>G)
c.754+9C>G (n.754+9C>G)
c.*285+9C>G (n.*285+9C>G)
c.*261+9C>G (n.*261+9C>G)
c.*204+9C>G (n.*204+9C>G)
c.964+9C>G (n.964+9C>G)
c.697+9C>G (n.697+9C>G)
c.691+9C>G (n.691+9C>G)
c.694+9C>G (n.694+9C>G)
c.751+9C>G (n.751+9C>G)
c.309+9C>G
c.961+9C>G (n.961+9C>G)
c.820+9C>G (n.820+9C>G)
c.817+9C>G (n.817+9C>G)
c.742+9C>G (n.742+9C>G)
c.790+9C>G (n.790+9C>G)
c.724+9C>G (n.724+9C>G)
c.886+9C>G (n.886+9C>G)
c.772+9C>G (n.772+9C>G)
c.769+9C>G (n.769+9C>G)
c.883+9C>G (n.883+9C>G)
c.739+9C>G (n.739+9C>G)
c.958+9C>G (n.958+9C>G)
c.868+9C>G (n.868+9C>G)
gnomAD v4
22g.35761194C=CA2403556505RBFOX2c.874+8G= (n.874+8G=)
c.754+8G= (n.754+8G=)
c.*285+8G= (n.*285+8G=)
c.*261+8G= (n.*261+8G=)
c.*204+8G= (n.*204+8G=)
c.964+8G= (n.964+8G=)
c.697+8G= (n.697+8G=)
c.691+8G= (n.691+8G=)
c.694+8G= (n.694+8G=)
c.751+8G= (n.751+8G=)
c.309+8G=
c.961+8G= (n.961+8G=)
c.820+8G= (n.820+8G=)
c.817+8G= (n.817+8G=)
c.742+8G= (n.742+8G=)
c.790+8G= (n.790+8G=)
c.724+8G= (n.724+8G=)
c.886+8G= (n.886+8G=)
c.772+8G= (n.772+8G=)
c.769+8G= (n.769+8G=)
c.883+8G= (n.883+8G=)
c.739+8G= (n.739+8G=)
c.958+8G= (n.958+8G=)
c.868+8G= (n.868+8G=)
22g.35761194C>TCA752814624RBFOX2c.874+8G>A (n.874+8G>A)
c.754+8G>A (n.754+8G>A)
c.*285+8G>A (n.*285+8G>A)
c.*261+8G>A (n.*261+8G>A)
c.*204+8G>A (n.*204+8G>A)
c.964+8G>A (n.964+8G>A)
c.697+8G>A (n.697+8G>A)
c.691+8G>A (n.691+8G>A)
c.694+8G>A (n.694+8G>A)
c.751+8G>A (n.751+8G>A)
c.309+8G>A
c.961+8G>A (n.961+8G>A)
c.820+8G>A (n.820+8G>A)
c.817+8G>A (n.817+8G>A)
c.742+8G>A (n.742+8G>A)
c.790+8G>A (n.790+8G>A)
c.724+8G>A (n.724+8G>A)
c.886+8G>A (n.886+8G>A)
c.772+8G>A (n.772+8G>A)
c.769+8G>A (n.769+8G>A)
c.883+8G>A (n.883+8G>A)
c.739+8G>A (n.739+8G>A)
c.958+8G>A (n.958+8G>A)
c.868+8G>A (n.868+8G>A)
dbSNP gnomAD v3 gnomAD v4
22g.35761199T>CCA1025414132RBFOX2c.874+3A>G (n.874+3A>G)
c.754+3A>G (n.754+3A>G)
c.*285+3A>G (n.*285+3A>G)
c.*261+3A>G (n.*261+3A>G)
c.*204+3A>G (n.*204+3A>G)
c.964+3A>G (n.964+3A>G)
c.697+3A>G (n.697+3A>G)
c.691+3A>G (n.691+3A>G)
c.694+3A>G (n.694+3A>G)
c.751+3A>G (n.751+3A>G)
c.309+3A>G
c.961+3A>G (n.961+3A>G)
c.820+3A>G (n.820+3A>G)
c.817+3A>G (n.817+3A>G)
c.742+3A>G (n.742+3A>G)
c.790+3A>G (n.790+3A>G)
c.724+3A>G (n.724+3A>G)
c.886+3A>G (n.886+3A>G)
c.772+3A>G (n.772+3A>G)
c.769+3A>G (n.769+3A>G)
c.883+3A>G (n.883+3A>G)
c.739+3A>G (n.739+3A>G)
c.958+3A>G (n.958+3A>G)
c.868+3A>G (n.868+3A>G)
dbSNP gnomAD v3 gnomAD v4
22g.35761199T=CA2403556506RBFOX2c.874+3A= (n.874+3A=)
c.754+3A= (n.754+3A=)
c.*285+3A= (n.*285+3A=)
c.*261+3A= (n.*261+3A=)
c.*204+3A= (n.*204+3A=)
c.964+3A= (n.964+3A=)
c.697+3A= (n.697+3A=)
c.691+3A= (n.691+3A=)
c.694+3A= (n.694+3A=)
c.751+3A= (n.751+3A=)
c.309+3A=
c.961+3A= (n.961+3A=)
c.820+3A= (n.820+3A=)
c.817+3A= (n.817+3A=)
c.742+3A= (n.742+3A=)
c.790+3A= (n.790+3A=)
c.724+3A= (n.724+3A=)
c.886+3A= (n.886+3A=)
c.772+3A= (n.772+3A=)
c.769+3A= (n.769+3A=)
c.883+3A= (n.883+3A=)
c.739+3A= (n.739+3A=)
c.958+3A= (n.958+3A=)
c.868+3A= (n.868+3A=)
22g.35761200A>CCA411358645RBFOX2c.874+2T>G (n.874+2T>G)
c.754+2T>G (n.754+2T>G)
c.*285+2T>G (n.*285+2T>G)
c.*261+2T>G (n.*261+2T>G)
c.*204+2T>G (n.*204+2T>G)
c.964+2T>G (n.964+2T>G)
c.697+2T>G (n.697+2T>G)
c.691+2T>G (n.691+2T>G)
c.694+2T>G (n.694+2T>G)
c.751+2T>G (n.751+2T>G)
c.309+2T>G
c.961+2T>G (n.961+2T>G)
c.820+2T>G (n.820+2T>G)
c.817+2T>G (n.817+2T>G)
c.742+2T>G (n.742+2T>G)
c.790+2T>G (n.790+2T>G)
c.724+2T>G (n.724+2T>G)
c.886+2T>G (n.886+2T>G)
c.772+2T>G (n.772+2T>G)
c.769+2T>G (n.769+2T>G)
c.883+2T>G (n.883+2T>G)
c.739+2T>G (n.739+2T>G)
c.958+2T>G (n.958+2T>G)
c.868+2T>G (n.868+2T>G)
22g.35761200A>GCA411358648RBFOX2c.874+2T>C (n.874+2T>C)
c.754+2T>C (n.754+2T>C)
c.*285+2T>C (n.*285+2T>C)
c.*261+2T>C (n.*261+2T>C)
c.*204+2T>C (n.*204+2T>C)
c.964+2T>C (n.964+2T>C)
c.697+2T>C (n.697+2T>C)
c.691+2T>C (n.691+2T>C)
c.694+2T>C (n.694+2T>C)
c.751+2T>C (n.751+2T>C)
c.309+2T>C
c.961+2T>C (n.961+2T>C)
c.820+2T>C (n.820+2T>C)
c.817+2T>C (n.817+2T>C)
c.742+2T>C (n.742+2T>C)
c.790+2T>C (n.790+2T>C)
c.724+2T>C (n.724+2T>C)
c.886+2T>C (n.886+2T>C)
c.772+2T>C (n.772+2T>C)
c.769+2T>C (n.769+2T>C)
c.883+2T>C (n.883+2T>C)
c.739+2T>C (n.739+2T>C)
c.958+2T>C (n.958+2T>C)
c.868+2T>C (n.868+2T>C)
22g.35761200A>TCA411358652RBFOX2c.874+2T>A (n.874+2T>A)
c.754+2T>A (n.754+2T>A)
c.*285+2T>A (n.*285+2T>A)
c.*261+2T>A (n.*261+2T>A)
c.*204+2T>A (n.*204+2T>A)
c.964+2T>A (n.964+2T>A)
c.697+2T>A (n.697+2T>A)
c.691+2T>A (n.691+2T>A)
c.694+2T>A (n.694+2T>A)
c.751+2T>A (n.751+2T>A)
c.309+2T>A
c.961+2T>A (n.961+2T>A)
c.820+2T>A (n.820+2T>A)
c.817+2T>A (n.817+2T>A)
c.742+2T>A (n.742+2T>A)
c.790+2T>A (n.790+2T>A)
c.724+2T>A (n.724+2T>A)
c.886+2T>A (n.886+2T>A)
c.772+2T>A (n.772+2T>A)
c.769+2T>A (n.769+2T>A)
c.883+2T>A (n.883+2T>A)
c.739+2T>A (n.739+2T>A)
c.958+2T>A (n.958+2T>A)
c.868+2T>A (n.868+2T>A)
22g.35761201C>ACA411358654RBFOX2c.874+1G>T (n.874+1G>T)
c.754+1G>T (n.754+1G>T)
c.*285+1G>T (n.*285+1G>T)
c.*261+1G>T (n.*261+1G>T)
c.*204+1G>T (n.*204+1G>T)
c.964+1G>T (n.964+1G>T)
c.697+1G>T (n.697+1G>T)
c.691+1G>T (n.691+1G>T)
c.694+1G>T (n.694+1G>T)
c.751+1G>T (n.751+1G>T)
c.309+1G>T
c.961+1G>T (n.961+1G>T)
c.820+1G>T (n.820+1G>T)
c.817+1G>T (n.817+1G>T)
c.742+1G>T (n.742+1G>T)
c.790+1G>T (n.790+1G>T)
c.724+1G>T (n.724+1G>T)
c.886+1G>T (n.886+1G>T)
c.772+1G>T (n.772+1G>T)
c.769+1G>T (n.769+1G>T)
c.883+1G>T (n.883+1G>T)
c.739+1G>T (n.739+1G>T)
c.958+1G>T (n.958+1G>T)
c.868+1G>T (n.868+1G>T)
22g.35761201C>GCA411358656RBFOX2c.874+1G>C (n.874+1G>C)
c.754+1G>C (n.754+1G>C)
c.*285+1G>C (n.*285+1G>C)
c.*261+1G>C (n.*261+1G>C)
c.*204+1G>C (n.*204+1G>C)
c.964+1G>C (n.964+1G>C)
c.697+1G>C (n.697+1G>C)
c.691+1G>C (n.691+1G>C)
c.694+1G>C (n.694+1G>C)
c.751+1G>C (n.751+1G>C)
c.309+1G>C
c.961+1G>C (n.961+1G>C)
c.820+1G>C (n.820+1G>C)
c.817+1G>C (n.817+1G>C)
c.742+1G>C (n.742+1G>C)
c.790+1G>C (n.790+1G>C)
c.724+1G>C (n.724+1G>C)
c.886+1G>C (n.886+1G>C)
c.772+1G>C (n.772+1G>C)
c.769+1G>C (n.769+1G>C)
c.883+1G>C (n.883+1G>C)
c.739+1G>C (n.739+1G>C)
c.958+1G>C (n.958+1G>C)
c.868+1G>C (n.868+1G>C)
22g.35761201C>TCA411358658RBFOX2c.874+1G>A (n.874+1G>A)
c.754+1G>A (n.754+1G>A)
c.*285+1G>A (n.*285+1G>A)
c.*261+1G>A (n.*261+1G>A)
c.*204+1G>A (n.*204+1G>A)
c.964+1G>A (n.964+1G>A)
c.697+1G>A (n.697+1G>A)
c.691+1G>A (n.691+1G>A)
c.694+1G>A (n.694+1G>A)
c.751+1G>A (n.751+1G>A)
c.309+1G>A
c.961+1G>A (n.961+1G>A)
c.820+1G>A (n.820+1G>A)
c.817+1G>A (n.817+1G>A)
c.742+1G>A (n.742+1G>A)
c.790+1G>A (n.790+1G>A)
c.724+1G>A (n.724+1G>A)
c.886+1G>A (n.886+1G>A)
c.772+1G>A (n.772+1G>A)
c.769+1G>A (n.769+1G>A)
c.883+1G>A (n.883+1G>A)
c.739+1G>A (n.739+1G>A)
c.958+1G>A (n.958+1G>A)
c.868+1G>A (n.868+1G>A)
22g.35761202T>ACA411358659RBFOX2c.874A>T (p.Ile292Phe)
c.754A>T (p.Ile252Phe)
c.*285A>T (n.*285A>T)
c.*261A>T (n.*261A>T)
c.*204A>T (n.*204A>T)
c.964A>T (p.Ile322Phe)
c.964A>T (p.Ser322Cys)
c.697A>T (p.Ile233Phe)
c.691A>T (p.Ile231Phe)
c.694A>T (p.Ile232Phe)
c.751A>T (p.Ser251Cys)
c.751A>T (p.Ile251Phe)
c.309A>T
c.961A>T (p.Ser321Cys)
c.961A>T (p.Ile321Phe)
c.754A>T (p.Ser252Cys)
c.820A>T (p.Ser274Cys)
c.817A>T (p.Ser273Cys)
c.742A>T (p.Ser248Cys)
c.691A>T (p.Ser231Cys)
c.790A>T (p.Ser264Cys)
c.817A>T (p.Ile273Phe)
c.724A>T (p.Ser242Cys)
c.886A>T (p.Ser296Cys)
c.772A>T (p.Ser258Cys)
c.769A>T (p.Ser257Cys)
c.883A>T (p.Ser295Cys)
c.694A>T (p.Ser232Cys)
c.739A>T (p.Ile247Phe)
c.958A>T (p.Ile320Phe)
c.868A>T (p.Ile290Phe)
22g.35761202T>CCA411358661RBFOX2c.874A>G (p.Ile292Val)
c.754A>G (p.Ile252Val)
c.*285A>G (n.*285A>G)
c.*261A>G (n.*261A>G)
c.*204A>G (n.*204A>G)
c.964A>G (p.Ile322Val)
c.964A>G (p.Ser322Gly)
c.697A>G (p.Ile233Val)
c.691A>G (p.Ile231Val)
c.694A>G (p.Ile232Val)
c.751A>G (p.Ser251Gly)
c.751A>G (p.Ile251Val)
c.309A>G
c.961A>G (p.Ser321Gly)
c.961A>G (p.Ile321Val)
c.754A>G (p.Ser252Gly)
c.820A>G (p.Ser274Gly)
c.817A>G (p.Ser273Gly)
c.742A>G (p.Ser248Gly)
c.691A>G (p.Ser231Gly)
c.790A>G (p.Ser264Gly)
c.817A>G (p.Ile273Val)
c.724A>G (p.Ser242Gly)
c.886A>G (p.Ser296Gly)
c.772A>G (p.Ser258Gly)
c.769A>G (p.Ser257Gly)
c.883A>G (p.Ser295Gly)
c.694A>G (p.Ser232Gly)
c.739A>G (p.Ile247Val)
c.958A>G (p.Ile320Val)
c.868A>G (p.Ile290Val)
COSMIC COSMIC
22g.35761202T>GCA411358663RBFOX2c.874A>C (p.Ile292Leu)
c.754A>C (p.Ile252Leu)
c.*285A>C (n.*285A>C)
c.*261A>C (n.*261A>C)
c.*204A>C (n.*204A>C)
c.964A>C (p.Ile322Leu)
c.964A>C (p.Ser322Arg)
c.697A>C (p.Ile233Leu)
c.691A>C (p.Ile231Leu)
c.694A>C (p.Ile232Leu)
c.751A>C (p.Ser251Arg)
c.751A>C (p.Ile251Leu)
c.309A>C
c.961A>C (p.Ser321Arg)
c.961A>C (p.Ile321Leu)
c.754A>C (p.Ser252Arg)
c.820A>C (p.Ser274Arg)
c.817A>C (p.Ser273Arg)
c.742A>C (p.Ser248Arg)
c.691A>C (p.Ser231Arg)
c.790A>C (p.Ser264Arg)
c.817A>C (p.Ile273Leu)
c.724A>C (p.Ser242Arg)
c.886A>C (p.Ser296Arg)
c.772A>C (p.Ser258Arg)
c.769A>C (p.Ser257Arg)
c.883A>C (p.Ser295Arg)
c.694A>C (p.Ser232Arg)
c.739A>C (p.Ile247Leu)
c.958A>C (p.Ile320Leu)
c.868A>C (p.Ile290Leu)
22g.35761203G>ACA10206815RBFOX2c.873C>T (p.Ile291=)
c.753C>T (p.Ile251=)
c.*284C>T (n.*284C>T)
c.*260C>T (n.*260C>T)
c.*203C>T (n.*203C>T)
c.963C>T (p.Ile321=)
c.696C>T (p.Ile232=)
c.690C>T (p.Ile230=)
c.693C>T (p.Ile231=)
c.750C>T (p.Ile250=)
c.308C>T
c.960C>T (p.Ile320=)
c.819C>T (p.Ile273=)
c.816C>T (p.Ile272=)
c.741C>T (p.Ile247=)
c.789C>T (p.Ile263=)
c.723C>T (p.Ile241=)
c.885C>T (p.Ile295=)
c.771C>T (p.Ile257=)
c.768C>T (p.Ile256=)
c.882C>T (p.Ile294=)
c.738C>T (p.Ile246=)
c.957C>T (p.Ile319=)
c.867C>T (p.Ile289=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.35761203G>CCA411358669RBFOX2c.873C>G (p.Ile291Met)
c.753C>G (p.Ile251Met)
c.*284C>G (n.*284C>G)
c.*260C>G (n.*260C>G)
c.*203C>G (n.*203C>G)
c.963C>G (p.Ile321Met)
c.696C>G (p.Ile232Met)
c.690C>G (p.Ile230Met)
c.693C>G (p.Ile231Met)
c.750C>G (p.Ile250Met)
c.308C>G
c.960C>G (p.Ile320Met)
c.819C>G (p.Ile273Met)
c.816C>G (p.Ile272Met)
c.741C>G (p.Ile247Met)
c.789C>G (p.Ile263Met)
c.723C>G (p.Ile241Met)
c.885C>G (p.Ile295Met)
c.771C>G (p.Ile257Met)
c.768C>G (p.Ile256Met)
c.882C>G (p.Ile294Met)
c.738C>G (p.Ile246Met)
c.957C>G (p.Ile319Met)
c.867C>G (p.Ile289Met)
22g.35761203G=CA2403556507RBFOX2c.873C= (p.Ile291=)
c.753C= (p.Ile251=)
c.*284C= (n.*284C=)
c.*260C= (n.*260C=)
c.*203C= (n.*203C=)
c.963C= (p.Ile321=)
c.696C= (p.Ile232=)
c.690C= (p.Ile230=)
c.693C= (p.Ile231=)
c.750C= (p.Ile250=)
c.308C=
c.960C= (p.Ile320=)
c.819C= (p.Ile273=)
c.816C= (p.Ile272=)
c.741C= (p.Ile247=)
c.789C= (p.Ile263=)
c.723C= (p.Ile241=)
c.885C= (p.Ile295=)
c.771C= (p.Ile257=)
c.768C= (p.Ile256=)
c.882C= (p.Ile294=)
c.738C= (p.Ile246=)
c.957C= (p.Ile319=)
c.867C= (p.Ile289=)
22g.35761203G>TCA514339612RBFOX2c.873C>A (p.Ile291=)
c.753C>A (p.Ile251=)
c.*284C>A (n.*284C>A)
c.*260C>A (n.*260C>A)
c.*203C>A (n.*203C>A)
c.963C>A (p.Ile321=)
c.696C>A (p.Ile232=)
c.690C>A (p.Ile230=)
c.693C>A (p.Ile231=)
c.750C>A (p.Ile250=)
c.308C>A
c.960C>A (p.Ile320=)
c.819C>A (p.Ile273=)
c.816C>A (p.Ile272=)
c.741C>A (p.Ile247=)
c.789C>A (p.Ile263=)
c.723C>A (p.Ile241=)
c.885C>A (p.Ile295=)
c.771C>A (p.Ile257=)
c.768C>A (p.Ile256=)
c.882C>A (p.Ile294=)
c.738C>A (p.Ile246=)
c.957C>A (p.Ile319=)
c.867C>A (p.Ile289=)
22g.35761204A>CCA411358672RBFOX2c.872T>G (p.Ile291Ser)
c.752T>G (p.Ile251Ser)
c.*283T>G (n.*283T>G)
c.*259T>G (n.*259T>G)
c.*202T>G (n.*202T>G)
c.962T>G (p.Ile321Ser)
c.695T>G (p.Ile232Ser)
c.689T>G (p.Ile230Ser)
c.692T>G (p.Ile231Ser)
c.749T>G (p.Ile250Ser)
c.307T>G
c.959T>G (p.Ile320Ser)
c.818T>G (p.Ile273Ser)
c.815T>G (p.Ile272Ser)
c.740T>G (p.Ile247Ser)
c.788T>G (p.Ile263Ser)
c.722T>G (p.Ile241Ser)
c.884T>G (p.Ile295Ser)
c.770T>G (p.Ile257Ser)
c.767T>G (p.Ile256Ser)
c.881T>G (p.Ile294Ser)
c.737T>G (p.Ile246Ser)
c.956T>G (p.Ile319Ser)
c.866T>G (p.Ile289Ser)
22g.35761204A>GCA411358676RBFOX2c.872T>C (p.Ile291Thr)
c.752T>C (p.Ile251Thr)
c.*283T>C (n.*283T>C)
c.*259T>C (n.*259T>C)
c.*202T>C (n.*202T>C)
c.962T>C (p.Ile321Thr)
c.695T>C (p.Ile232Thr)
c.689T>C (p.Ile230Thr)
c.692T>C (p.Ile231Thr)
c.749T>C (p.Ile250Thr)
c.307T>C
c.959T>C (p.Ile320Thr)
c.818T>C (p.Ile273Thr)
c.815T>C (p.Ile272Thr)
c.740T>C (p.Ile247Thr)
c.788T>C (p.Ile263Thr)
c.722T>C (p.Ile241Thr)
c.884T>C (p.Ile295Thr)
c.770T>C (p.Ile257Thr)
c.767T>C (p.Ile256Thr)
c.881T>C (p.Ile294Thr)
c.737T>C (p.Ile246Thr)
c.956T>C (p.Ile319Thr)
c.866T>C (p.Ile289Thr)
22g.35761204A>TCA411358678RBFOX2c.872T>A (p.Ile291Asn)
c.752T>A (p.Ile251Asn)
c.*283T>A (n.*283T>A)
c.*259T>A (n.*259T>A)
c.*202T>A (n.*202T>A)
c.962T>A (p.Ile321Asn)
c.695T>A (p.Ile232Asn)
c.689T>A (p.Ile230Asn)
c.692T>A (p.Ile231Asn)
c.749T>A (p.Ile250Asn)
c.307T>A
c.959T>A (p.Ile320Asn)
c.818T>A (p.Ile273Asn)
c.815T>A (p.Ile272Asn)
c.740T>A (p.Ile247Asn)
c.788T>A (p.Ile263Asn)
c.722T>A (p.Ile241Asn)
c.884T>A (p.Ile295Asn)
c.770T>A (p.Ile257Asn)
c.767T>A (p.Ile256Asn)
c.881T>A (p.Ile294Asn)
c.737T>A (p.Ile246Asn)
c.956T>A (p.Ile319Asn)
c.866T>A (p.Ile289Asn)
22g.35761205T>ACA411358679RBFOX2c.871A>T (p.Ile291Phe)
c.751A>T (p.Ile251Phe)
c.*282A>T (n.*282A>T)
c.*258A>T (n.*258A>T)
c.*201A>T (n.*201A>T)
c.961A>T (p.Ile321Phe)
c.694A>T (p.Ile232Phe)
c.688A>T (p.Ile230Phe)
c.691A>T (p.Ile231Phe)
c.748A>T (p.Ile250Phe)
c.306A>T
c.958A>T (p.Ile320Phe)
c.817A>T (p.Ile273Phe)
c.814A>T (p.Ile272Phe)
c.739A>T (p.Ile247Phe)
c.787A>T (p.Ile263Phe)
c.721A>T (p.Ile241Phe)
c.883A>T (p.Ile295Phe)
c.769A>T (p.Ile257Phe)
c.766A>T (p.Ile256Phe)
c.880A>T (p.Ile294Phe)
c.736A>T (p.Ile246Phe)
c.955A>T (p.Ile319Phe)
c.865A>T (p.Ile289Phe)
gnomAD v4
22g.35761205T>CCA411358681RBFOX2c.871A>G (p.Ile291Val)
c.751A>G (p.Ile251Val)
c.*282A>G (n.*282A>G)
c.*258A>G (n.*258A>G)
c.*201A>G (n.*201A>G)
c.961A>G (p.Ile321Val)
c.694A>G (p.Ile232Val)
c.688A>G (p.Ile230Val)
c.691A>G (p.Ile231Val)
c.748A>G (p.Ile250Val)
c.306A>G
c.958A>G (p.Ile320Val)
c.817A>G (p.Ile273Val)
c.814A>G (p.Ile272Val)
c.739A>G (p.Ile247Val)
c.787A>G (p.Ile263Val)
c.721A>G (p.Ile241Val)
c.883A>G (p.Ile295Val)
c.769A>G (p.Ile257Val)
c.766A>G (p.Ile256Val)
c.880A>G (p.Ile294Val)
c.736A>G (p.Ile246Val)
c.955A>G (p.Ile319Val)
c.865A>G (p.Ile289Val)
22g.35761205T>GCA411358684RBFOX2c.871A>C (p.Ile291Leu)
c.751A>C (p.Ile251Leu)
c.*282A>C (n.*282A>C)
c.*258A>C (n.*258A>C)
c.*201A>C (n.*201A>C)
c.961A>C (p.Ile321Leu)
c.694A>C (p.Ile232Leu)
c.688A>C (p.Ile230Leu)
c.691A>C (p.Ile231Leu)
c.748A>C (p.Ile250Leu)
c.306A>C
c.958A>C (p.Ile320Leu)
c.817A>C (p.Ile273Leu)
c.814A>C (p.Ile272Leu)
c.739A>C (p.Ile247Leu)
c.787A>C (p.Ile263Leu)
c.721A>C (p.Ile241Leu)
c.883A>C (p.Ile295Leu)
c.769A>C (p.Ile257Leu)
c.766A>C (p.Ile256Leu)
c.880A>C (p.Ile294Leu)
c.736A>C (p.Ile246Leu)
c.955A>C (p.Ile319Leu)
c.865A>C (p.Ile289Leu)
22g.35761206T>ACA411358687RBFOX2c.870A>T (p.Leu290Phe)
c.750A>T (p.Leu250Phe)
c.*281A>T (n.*281A>T)
c.*257A>T (n.*257A>T)
c.*200A>T (n.*200A>T)
c.960A>T (p.Leu320Phe)
c.693A>T (p.Leu231Phe)
c.687A>T (p.Leu229Phe)
c.690A>T (p.Leu230Phe)
c.747A>T (p.Leu249Phe)
c.305A>T
c.957A>T (p.Leu319Phe)
c.816A>T (p.Leu272Phe)
c.813A>T (p.Leu271Phe)
c.738A>T (p.Leu246Phe)
c.786A>T (p.Leu262Phe)
c.720A>T (p.Leu240Phe)
c.882A>T (p.Leu294Phe)
c.768A>T (p.Leu256Phe)
c.765A>T (p.Leu255Phe)
c.879A>T (p.Leu293Phe)
c.735A>T (p.Leu245Phe)
c.954A>T (p.Leu318Phe)
c.864A>T (p.Leu288Phe)
22g.35761206T>CCA514339613RBFOX2c.870A>G (p.Leu290=)
c.750A>G (p.Leu250=)
c.*281A>G (n.*281A>G)
c.*257A>G (n.*257A>G)
c.*200A>G (n.*200A>G)
c.960A>G (p.Leu320=)
c.693A>G (p.Leu231=)
c.687A>G (p.Leu229=)
c.690A>G (p.Leu230=)
c.747A>G (p.Leu249=)
c.305A>G
c.957A>G (p.Leu319=)
c.816A>G (p.Leu272=)
c.813A>G (p.Leu271=)
c.738A>G (p.Leu246=)
c.786A>G (p.Leu262=)
c.720A>G (p.Leu240=)
c.882A>G (p.Leu294=)
c.768A>G (p.Leu256=)
c.765A>G (p.Leu255=)
c.879A>G (p.Leu293=)
c.735A>G (p.Leu245=)
c.954A>G (p.Leu318=)
c.864A>G (p.Leu288=)
22g.35761206T>GCA411358688RBFOX2c.870A>C (p.Leu290Phe)
c.750A>C (p.Leu250Phe)
c.*281A>C (n.*281A>C)
c.*257A>C (n.*257A>C)
c.*200A>C (n.*200A>C)
c.960A>C (p.Leu320Phe)
c.693A>C (p.Leu231Phe)
c.687A>C (p.Leu229Phe)
c.690A>C (p.Leu230Phe)
c.747A>C (p.Leu249Phe)
c.305A>C
c.957A>C (p.Leu319Phe)
c.816A>C (p.Leu272Phe)
c.813A>C (p.Leu271Phe)
c.738A>C (p.Leu246Phe)
c.786A>C (p.Leu262Phe)
c.720A>C (p.Leu240Phe)
c.882A>C (p.Leu294Phe)
c.768A>C (p.Leu256Phe)
c.765A>C (p.Leu255Phe)
c.879A>C (p.Leu293Phe)
c.735A>C (p.Leu245Phe)
c.954A>C (p.Leu318Phe)
c.864A>C (p.Leu288Phe)
22g.35761207A>CCA411358697RBFOX2c.869T>G (p.Leu290Ter)
c.749T>G (p.Leu250Ter)
c.*280T>G (n.*280T>G)
c.*256T>G (n.*256T>G)
c.*199T>G (n.*199T>G)
c.959T>G (p.Leu320Ter)
c.692T>G (p.Leu231Ter)
c.686T>G (p.Leu229Ter)
c.689T>G (p.Leu230Ter)
c.746T>G (p.Leu249Ter)
c.304T>G
c.956T>G (p.Leu319Ter)
c.815T>G (p.Leu272Ter)
c.812T>G (p.Leu271Ter)
c.737T>G (p.Leu246Ter)
c.785T>G (p.Leu262Ter)
c.719T>G (p.Leu240Ter)
c.881T>G (p.Leu294Ter)
c.767T>G (p.Leu256Ter)
c.764T>G (p.Leu255Ter)
c.878T>G (p.Leu293Ter)
c.734T>G (p.Leu245Ter)
c.953T>G (p.Leu318Ter)
c.863T>G (p.Leu288Ter)
22g.35761207A>GCA411358699RBFOX2c.869T>C (p.Leu290Ser)
c.749T>C (p.Leu250Ser)
c.*280T>C (n.*280T>C)
c.*256T>C (n.*256T>C)
c.*199T>C (n.*199T>C)
c.959T>C (p.Leu320Ser)
c.692T>C (p.Leu231Ser)
c.686T>C (p.Leu229Ser)
c.689T>C (p.Leu230Ser)
c.746T>C (p.Leu249Ser)
c.304T>C
c.956T>C (p.Leu319Ser)
c.815T>C (p.Leu272Ser)
c.812T>C (p.Leu271Ser)
c.737T>C (p.Leu246Ser)
c.785T>C (p.Leu262Ser)
c.719T>C (p.Leu240Ser)
c.881T>C (p.Leu294Ser)
c.767T>C (p.Leu256Ser)
c.764T>C (p.Leu255Ser)
c.878T>C (p.Leu293Ser)
c.734T>C (p.Leu245Ser)
c.953T>C (p.Leu318Ser)
c.863T>C (p.Leu288Ser)
22g.35761207A>TCA411358701RBFOX2c.869T>A (p.Leu290Ter)
c.749T>A (p.Leu250Ter)
c.*280T>A (n.*280T>A)
c.*256T>A (n.*256T>A)
c.*199T>A (n.*199T>A)
c.959T>A (p.Leu320Ter)
c.692T>A (p.Leu231Ter)
c.686T>A (p.Leu229Ter)
c.689T>A (p.Leu230Ter)
c.746T>A (p.Leu249Ter)
c.304T>A
c.956T>A (p.Leu319Ter)
c.815T>A (p.Leu272Ter)
c.812T>A (p.Leu271Ter)
c.737T>A (p.Leu246Ter)
c.785T>A (p.Leu262Ter)
c.719T>A (p.Leu240Ter)
c.881T>A (p.Leu294Ter)
c.767T>A (p.Leu256Ter)
c.764T>A (p.Leu255Ter)
c.878T>A (p.Leu293Ter)
c.734T>A (p.Leu245Ter)
c.953T>A (p.Leu318Ter)
c.863T>A (p.Leu288Ter)
22g.35761208A=CA2403556508RBFOX2c.868T= (p.Leu290=)
c.748T= (p.Leu250=)
c.*279T= (n.*279T=)
c.*255T= (n.*255T=)
c.*198T= (n.*198T=)
c.958T= (p.Leu320=)
c.691T= (p.Leu231=)
c.685T= (p.Leu229=)
c.688T= (p.Leu230=)
c.745T= (p.Leu249=)
c.303T=
c.955T= (p.Leu319=)
c.814T= (p.Leu272=)
c.811T= (p.Leu271=)
c.736T= (p.Leu246=)
c.784T= (p.Leu262=)
c.718T= (p.Leu240=)
c.880T= (p.Leu294=)
c.766T= (p.Leu256=)
c.763T= (p.Leu255=)
c.877T= (p.Leu293=)
c.733T= (p.Leu245=)
c.952T= (p.Leu318=)
c.862T= (p.Leu288=)
22g.35761208A>CCA10206816RBFOX2c.868T>G (p.Leu290Val)
c.748T>G (p.Leu250Val)
c.*279T>G (n.*279T>G)
c.*255T>G (n.*255T>G)
c.*198T>G (n.*198T>G)
c.958T>G (p.Leu320Val)
c.691T>G (p.Leu231Val)
c.685T>G (p.Leu229Val)
c.688T>G (p.Leu230Val)
c.745T>G (p.Leu249Val)
c.303T>G
c.955T>G (p.Leu319Val)
c.814T>G (p.Leu272Val)
c.811T>G (p.Leu271Val)
c.736T>G (p.Leu246Val)
c.784T>G (p.Leu262Val)
c.718T>G (p.Leu240Val)
c.880T>G (p.Leu294Val)
c.766T>G (p.Leu256Val)
c.763T>G (p.Leu255Val)
c.877T>G (p.Leu293Val)
c.733T>G (p.Leu245Val)
c.952T>G (p.Leu318Val)
c.862T>G (p.Leu288Val)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.35761208A>GCA514339614RBFOX2c.868T>C (p.Leu290=)
c.748T>C (p.Leu250=)
c.*279T>C (n.*279T>C)
c.*255T>C (n.*255T>C)
c.*198T>C (n.*198T>C)
c.958T>C (p.Leu320=)
c.691T>C (p.Leu231=)
c.685T>C (p.Leu229=)
c.688T>C (p.Leu230=)
c.745T>C (p.Leu249=)
c.303T>C
c.955T>C (p.Leu319=)
c.814T>C (p.Leu272=)
c.811T>C (p.Leu271=)
c.736T>C (p.Leu246=)
c.784T>C (p.Leu262=)
c.718T>C (p.Leu240=)
c.880T>C (p.Leu294=)
c.766T>C (p.Leu256=)
c.763T>C (p.Leu255=)
c.877T>C (p.Leu293=)
c.733T>C (p.Leu245=)
c.952T>C (p.Leu318=)
c.862T>C (p.Leu288=)
22g.35761208A>TCA411358705RBFOX2c.868T>A (p.Leu290Ile)
c.748T>A (p.Leu250Ile)
c.*279T>A (n.*279T>A)
c.*255T>A (n.*255T>A)
c.*198T>A (n.*198T>A)
c.958T>A (p.Leu320Ile)
c.691T>A (p.Leu231Ile)
c.685T>A (p.Leu229Ile)
c.688T>A (p.Leu230Ile)
c.745T>A (p.Leu249Ile)
c.303T>A
c.955T>A (p.Leu319Ile)
c.814T>A (p.Leu272Ile)
c.811T>A (p.Leu271Ile)
c.736T>A (p.Leu246Ile)
c.784T>A (p.Leu262Ile)
c.718T>A (p.Leu240Ile)
c.880T>A (p.Leu294Ile)
c.766T>A (p.Leu256Ile)
c.763T>A (p.Leu255Ile)
c.877T>A (p.Leu293Ile)
c.733T>A (p.Leu245Ile)
c.952T>A (p.Leu318Ile)
c.862T>A (p.Leu288Ile)
22g.35761209A>CCA514339615RBFOX2c.867T>G (p.Pro289=)
c.747T>G (p.Pro249=)
c.*278T>G (n.*278T>G)
c.*254T>G (n.*254T>G)
c.*197T>G (n.*197T>G)
c.957T>G (p.Pro319=)
c.690T>G (p.Pro230=)
c.684T>G (p.Pro228=)
c.687T>G (p.Pro229=)
c.744T>G (p.Pro248=)
c.302T>G
c.954T>G (p.Pro318=)
c.813T>G (p.Pro271=)
c.810T>G (p.Pro270=)
c.735T>G (p.Pro245=)
c.783T>G (p.Pro261=)
c.717T>G (p.Pro239=)
c.879T>G (p.Pro293=)
c.765T>G (p.Pro255=)
c.762T>G (p.Pro254=)
c.876T>G (p.Pro292=)
c.732T>G (p.Pro244=)
c.951T>G (p.Pro317=)
c.861T>G (p.Pro287=)
22g.35761209A>GCA514339616RBFOX2c.867T>C (p.Pro289=)
c.747T>C (p.Pro249=)
c.*278T>C (n.*278T>C)
c.*254T>C (n.*254T>C)
c.*197T>C (n.*197T>C)
c.957T>C (p.Pro319=)
c.690T>C (p.Pro230=)
c.684T>C (p.Pro228=)
c.687T>C (p.Pro229=)
c.744T>C (p.Pro248=)
c.302T>C
c.954T>C (p.Pro318=)
c.813T>C (p.Pro271=)
c.810T>C (p.Pro270=)
c.735T>C (p.Pro245=)
c.783T>C (p.Pro261=)
c.717T>C (p.Pro239=)
c.879T>C (p.Pro293=)
c.765T>C (p.Pro255=)
c.762T>C (p.Pro254=)
c.876T>C (p.Pro292=)
c.732T>C (p.Pro244=)
c.951T>C (p.Pro317=)
c.861T>C (p.Pro287=)
22g.35761209A>TCA514339617RBFOX2c.867T>A (p.Pro289=)
c.747T>A (p.Pro249=)
c.*278T>A (n.*278T>A)
c.*254T>A (n.*254T>A)
c.*197T>A (n.*197T>A)
c.957T>A (p.Pro319=)
c.690T>A (p.Pro230=)
c.684T>A (p.Pro228=)
c.687T>A (p.Pro229=)
c.744T>A (p.Pro248=)
c.302T>A
c.954T>A (p.Pro318=)
c.813T>A (p.Pro271=)
c.810T>A (p.Pro270=)
c.735T>A (p.Pro245=)
c.783T>A (p.Pro261=)
c.717T>A (p.Pro239=)
c.879T>A (p.Pro293=)
c.765T>A (p.Pro255=)
c.762T>A (p.Pro254=)
c.876T>A (p.Pro292=)
c.732T>A (p.Pro244=)
c.951T>A (p.Pro317=)
c.861T>A (p.Pro287=)
22g.35761210G>ACA411358716RBFOX2c.866C>T (p.Pro289Leu)
c.746C>T (p.Pro249Leu)
c.*277C>T (n.*277C>T)
c.*253C>T (n.*253C>T)
c.*196C>T (n.*196C>T)
c.956C>T (p.Pro319Leu)
c.689C>T (p.Pro230Leu)
c.683C>T (p.Pro228Leu)
c.686C>T (p.Pro229Leu)
c.743C>T (p.Pro248Leu)
c.301C>T
c.953C>T (p.Pro318Leu)
c.812C>T (p.Pro271Leu)
c.809C>T (p.Pro270Leu)
c.734C>T (p.Pro245Leu)
c.782C>T (p.Pro261Leu)
c.716C>T (p.Pro239Leu)
c.878C>T (p.Pro293Leu)
c.764C>T (p.Pro255Leu)
c.761C>T (p.Pro254Leu)
c.875C>T (p.Pro292Leu)
c.731C>T (p.Pro244Leu)
c.950C>T (p.Pro317Leu)
c.860C>T (p.Pro287Leu)
22g.35761210G>CCA411358710RBFOX2c.866C>G (p.Pro289Arg)
c.746C>G (p.Pro249Arg)
c.*277C>G (n.*277C>G)
c.*253C>G (n.*253C>G)
c.*196C>G (n.*196C>G)
c.956C>G (p.Pro319Arg)
c.689C>G (p.Pro230Arg)
c.683C>G (p.Pro228Arg)
c.686C>G (p.Pro229Arg)
c.743C>G (p.Pro248Arg)
c.301C>G
c.953C>G (p.Pro318Arg)
c.812C>G (p.Pro271Arg)
c.809C>G (p.Pro270Arg)
c.734C>G (p.Pro245Arg)
c.782C>G (p.Pro261Arg)
c.716C>G (p.Pro239Arg)
c.878C>G (p.Pro293Arg)
c.764C>G (p.Pro255Arg)
c.761C>G (p.Pro254Arg)
c.875C>G (p.Pro292Arg)
c.731C>G (p.Pro244Arg)
c.950C>G (p.Pro317Arg)
c.860C>G (p.Pro287Arg)
22g.35761210G>TCA411358713RBFOX2c.866C>A (p.Pro289His)
c.746C>A (p.Pro249His)
c.*277C>A (n.*277C>A)
c.*253C>A (n.*253C>A)
c.*196C>A (n.*196C>A)
c.956C>A (p.Pro319His)
c.689C>A (p.Pro230His)
c.683C>A (p.Pro228His)
c.686C>A (p.Pro229His)
c.743C>A (p.Pro248His)
c.301C>A
c.953C>A (p.Pro318His)
c.812C>A (p.Pro271His)
c.809C>A (p.Pro270His)
c.734C>A (p.Pro245His)
c.782C>A (p.Pro261His)
c.716C>A (p.Pro239His)
c.878C>A (p.Pro293His)
c.764C>A (p.Pro255His)
c.761C>A (p.Pro254His)
c.875C>A (p.Pro292His)
c.731C>A (p.Pro244His)
c.950C>A (p.Pro317His)
c.860C>A (p.Pro287His)
22g.35761211G>ACA411358722RBFOX2c.865C>T (p.Pro289Ser)
c.745C>T (p.Pro249Ser)
c.*276C>T (n.*276C>T)
c.*252C>T (n.*252C>T)
c.*195C>T (n.*195C>T)
c.955C>T (p.Pro319Ser)
c.688C>T (p.Pro230Ser)
c.682C>T (p.Pro228Ser)
c.685C>T (p.Pro229Ser)
c.742C>T (p.Pro248Ser)
c.300C>T
c.952C>T (p.Pro318Ser)
c.811C>T (p.Pro271Ser)
c.808C>T (p.Pro270Ser)
c.733C>T (p.Pro245Ser)
c.781C>T (p.Pro261Ser)
c.715C>T (p.Pro239Ser)
c.877C>T (p.Pro293Ser)
c.763C>T (p.Pro255Ser)
c.760C>T (p.Pro254Ser)
c.874C>T (p.Pro292Ser)
c.730C>T (p.Pro244Ser)
c.949C>T (p.Pro317Ser)
c.859C>T (p.Pro287Ser)
22g.35761211G>CCA411358725RBFOX2c.865C>G (p.Pro289Ala)
c.745C>G (p.Pro249Ala)
c.*276C>G (n.*276C>G)
c.*252C>G (n.*252C>G)
c.*195C>G (n.*195C>G)
c.955C>G (p.Pro319Ala)
c.688C>G (p.Pro230Ala)
c.682C>G (p.Pro228Ala)
c.685C>G (p.Pro229Ala)
c.742C>G (p.Pro248Ala)
c.300C>G
c.952C>G (p.Pro318Ala)
c.811C>G (p.Pro271Ala)
c.808C>G (p.Pro270Ala)
c.733C>G (p.Pro245Ala)
c.781C>G (p.Pro261Ala)
c.715C>G (p.Pro239Ala)
c.877C>G (p.Pro293Ala)
c.763C>G (p.Pro255Ala)
c.760C>G (p.Pro254Ala)
c.874C>G (p.Pro292Ala)
c.730C>G (p.Pro244Ala)
c.949C>G (p.Pro317Ala)
c.859C>G (p.Pro287Ala)
22g.35761211G>TCA411358726RBFOX2c.865C>A (p.Pro289Thr)
c.745C>A (p.Pro249Thr)
c.*276C>A (n.*276C>A)
c.*252C>A (n.*252C>A)
c.*195C>A (n.*195C>A)
c.955C>A (p.Pro319Thr)
c.688C>A (p.Pro230Thr)
c.682C>A (p.Pro228Thr)
c.685C>A (p.Pro229Thr)
c.742C>A (p.Pro248Thr)
c.300C>A
c.952C>A (p.Pro318Thr)
c.811C>A (p.Pro271Thr)
c.808C>A (p.Pro270Thr)
c.733C>A (p.Pro245Thr)
c.781C>A (p.Pro261Thr)
c.715C>A (p.Pro239Thr)
c.877C>A (p.Pro293Thr)
c.763C>A (p.Pro255Thr)
c.760C>A (p.Pro254Thr)
c.874C>A (p.Pro292Thr)
c.730C>A (p.Pro244Thr)
c.949C>A (p.Pro317Thr)
c.859C>A (p.Pro287Thr)
22g.35761212A=CA2403556509RBFOX2c.864T= (p.Ile288=)
c.744T= (p.Ile248=)
c.*275T= (n.*275T=)
c.*251T= (n.*251T=)
c.*194T= (n.*194T=)
c.954T= (p.Ile318=)
c.687T= (p.Ile229=)
c.681T= (p.Ile227=)
c.684T= (p.Ile228=)
c.741T= (p.Ile247=)
c.299T=
c.951T= (p.Ile317=)
c.810T= (p.Ile270=)
c.807T= (p.Ile269=)
c.732T= (p.Ile244=)
c.780T= (p.Ile260=)
c.714T= (p.Ile238=)
c.876T= (p.Ile292=)
c.762T= (p.Ile254=)
c.759T= (p.Ile253=)
c.873T= (p.Ile291=)
c.729T= (p.Ile243=)
c.948T= (p.Ile316=)
c.858T= (p.Ile286=)
22g.35761212A>CCA411358728RBFOX2c.864T>G (p.Ile288Met)
c.744T>G (p.Ile248Met)
c.*275T>G (n.*275T>G)
c.*251T>G (n.*251T>G)
c.*194T>G (n.*194T>G)
c.954T>G (p.Ile318Met)
c.687T>G (p.Ile229Met)
c.681T>G (p.Ile227Met)
c.684T>G (p.Ile228Met)
c.741T>G (p.Ile247Met)
c.299T>G
c.951T>G (p.Ile317Met)
c.810T>G (p.Ile270Met)
c.807T>G (p.Ile269Met)
c.732T>G (p.Ile244Met)
c.780T>G (p.Ile260Met)
c.714T>G (p.Ile238Met)
c.876T>G (p.Ile292Met)
c.762T>G (p.Ile254Met)
c.759T>G (p.Ile253Met)
c.873T>G (p.Ile291Met)
c.729T>G (p.Ile243Met)
c.948T>G (p.Ile316Met)
c.858T>G (p.Ile286Met)
22g.35761212A>GCA10206817RBFOX2c.864T>C (p.Ile288=)
c.744T>C (p.Ile248=)
c.*275T>C (n.*275T>C)
c.*251T>C (n.*251T>C)
c.*194T>C (n.*194T>C)
c.954T>C (p.Ile318=)
c.687T>C (p.Ile229=)
c.681T>C (p.Ile227=)
c.684T>C (p.Ile228=)
c.741T>C (p.Ile247=)
c.299T>C
c.951T>C (p.Ile317=)
c.810T>C (p.Ile270=)
c.807T>C (p.Ile269=)
c.732T>C (p.Ile244=)
c.780T>C (p.Ile260=)
c.714T>C (p.Ile238=)
c.876T>C (p.Ile292=)
c.762T>C (p.Ile254=)
c.759T>C (p.Ile253=)
c.873T>C (p.Ile291=)
c.729T>C (p.Ile243=)
c.948T>C (p.Ile316=)
c.858T>C (p.Ile286=)
dbSNP ExAC
22g.35761212A>TCA514339618RBFOX2c.864T>A (p.Ile288=)
c.744T>A (p.Ile248=)
c.*275T>A (n.*275T>A)
c.*251T>A (n.*251T>A)
c.*194T>A (n.*194T>A)
c.954T>A (p.Ile318=)
c.687T>A (p.Ile229=)
c.681T>A (p.Ile227=)
c.684T>A (p.Ile228=)
c.741T>A (p.Ile247=)
c.299T>A
c.951T>A (p.Ile317=)
c.810T>A (p.Ile270=)
c.807T>A (p.Ile269=)
c.732T>A (p.Ile244=)
c.780T>A (p.Ile260=)
c.714T>A (p.Ile238=)
c.876T>A (p.Ile292=)
c.762T>A (p.Ile254=)
c.759T>A (p.Ile253=)
c.873T>A (p.Ile291=)
c.729T>A (p.Ile243=)
c.948T>A (p.Ile316=)
c.858T>A (p.Ile286=)
22g.35761213A>CCA411358738RBFOX2c.863T>G (p.Ile288Ser)
c.743T>G (p.Ile248Ser)
c.*274T>G (n.*274T>G)
c.*250T>G (n.*250T>G)
c.*193T>G (n.*193T>G)
c.953T>G (p.Ile318Ser)
c.686T>G (p.Ile229Ser)
c.680T>G (p.Ile227Ser)
c.683T>G (p.Ile228Ser)
c.740T>G (p.Ile247Ser)
c.298T>G
c.950T>G (p.Ile317Ser)
c.809T>G (p.Ile270Ser)
c.806T>G (p.Ile269Ser)
c.731T>G (p.Ile244Ser)
c.779T>G (p.Ile260Ser)
c.713T>G (p.Ile238Ser)
c.875T>G (p.Ile292Ser)
c.761T>G (p.Ile254Ser)
c.758T>G (p.Ile253Ser)
c.872T>G (p.Ile291Ser)
c.728T>G (p.Ile243Ser)
c.947T>G (p.Ile316Ser)
c.857T>G (p.Ile286Ser)
22g.35761213A>GCA411358739RBFOX2c.863T>C (p.Ile288Thr)
c.743T>C (p.Ile248Thr)
c.*274T>C (n.*274T>C)
c.*250T>C (n.*250T>C)
c.*193T>C (n.*193T>C)
c.953T>C (p.Ile318Thr)
c.686T>C (p.Ile229Thr)
c.680T>C (p.Ile227Thr)
c.683T>C (p.Ile228Thr)
c.740T>C (p.Ile247Thr)
c.298T>C
c.950T>C (p.Ile317Thr)
c.809T>C (p.Ile270Thr)
c.806T>C (p.Ile269Thr)
c.731T>C (p.Ile244Thr)
c.779T>C (p.Ile260Thr)
c.713T>C (p.Ile238Thr)
c.875T>C (p.Ile292Thr)
c.761T>C (p.Ile254Thr)
c.758T>C (p.Ile253Thr)
c.872T>C (p.Ile291Thr)
c.728T>C (p.Ile243Thr)
c.947T>C (p.Ile316Thr)
c.857T>C (p.Ile286Thr)
22g.35761213A>TCA411358741RBFOX2c.863T>A (p.Ile288Asn)
c.743T>A (p.Ile248Asn)
c.*274T>A (n.*274T>A)
c.*250T>A (n.*250T>A)
c.*193T>A (n.*193T>A)
c.953T>A (p.Ile318Asn)
c.686T>A (p.Ile229Asn)
c.680T>A (p.Ile227Asn)
c.683T>A (p.Ile228Asn)
c.740T>A (p.Ile247Asn)
c.298T>A
c.950T>A (p.Ile317Asn)
c.809T>A (p.Ile270Asn)
c.806T>A (p.Ile269Asn)
c.731T>A (p.Ile244Asn)
c.779T>A (p.Ile260Asn)
c.713T>A (p.Ile238Asn)
c.875T>A (p.Ile292Asn)
c.761T>A (p.Ile254Asn)
c.758T>A (p.Ile253Asn)
c.872T>A (p.Ile291Asn)
c.728T>A (p.Ile243Asn)
c.947T>A (p.Ile316Asn)
c.857T>A (p.Ile286Asn)
22g.35761214T>ACA411358747RBFOX2c.862A>T (p.Ile288Phe)
c.742A>T (p.Ile248Phe)
c.*273A>T (n.*273A>T)
c.*249A>T (n.*249A>T)
c.*192A>T (n.*192A>T)
c.952A>T (p.Ile318Phe)
c.685A>T (p.Ile229Phe)
c.679A>T (p.Ile227Phe)
c.682A>T (p.Ile228Phe)
c.739A>T (p.Ile247Phe)
c.297A>T
c.949A>T (p.Ile317Phe)
c.808A>T (p.Ile270Phe)
c.805A>T (p.Ile269Phe)
c.730A>T (p.Ile244Phe)
c.778A>T (p.Ile260Phe)
c.712A>T (p.Ile238Phe)
c.874A>T (p.Ile292Phe)
c.760A>T (p.Ile254Phe)
c.757A>T (p.Ile253Phe)
c.871A>T (p.Ile291Phe)
c.727A>T (p.Ile243Phe)
c.946A>T (p.Ile316Phe)
c.856A>T (p.Ile286Phe)
22g.35761214T>CCA411358748RBFOX2c.862A>G (p.Ile288Val)
c.742A>G (p.Ile248Val)
c.*273A>G (n.*273A>G)
c.*249A>G (n.*249A>G)
c.*192A>G (n.*192A>G)
c.952A>G (p.Ile318Val)
c.685A>G (p.Ile229Val)
c.679A>G (p.Ile227Val)
c.682A>G (p.Ile228Val)
c.739A>G (p.Ile247Val)
c.297A>G
c.949A>G (p.Ile317Val)
c.808A>G (p.Ile270Val)
c.805A>G (p.Ile269Val)
c.730A>G (p.Ile244Val)
c.778A>G (p.Ile260Val)
c.712A>G (p.Ile238Val)
c.874A>G (p.Ile292Val)
c.760A>G (p.Ile254Val)
c.757A>G (p.Ile253Val)
c.871A>G (p.Ile291Val)
c.727A>G (p.Ile243Val)
c.946A>G (p.Ile316Val)
c.856A>G (p.Ile286Val)
22g.35761214T>GCA411358751RBFOX2c.862A>C (p.Ile288Leu)
c.742A>C (p.Ile248Leu)
c.*273A>C (n.*273A>C)
c.*249A>C (n.*249A>C)
c.*192A>C (n.*192A>C)
c.952A>C (p.Ile318Leu)
c.685A>C (p.Ile229Leu)
c.679A>C (p.Ile227Leu)
c.682A>C (p.Ile228Leu)
c.739A>C (p.Ile247Leu)
c.297A>C
c.949A>C (p.Ile317Leu)
c.808A>C (p.Ile270Leu)
c.805A>C (p.Ile269Leu)
c.730A>C (p.Ile244Leu)
c.778A>C (p.Ile260Leu)
c.712A>C (p.Ile238Leu)
c.874A>C (p.Ile292Leu)
c.760A>C (p.Ile254Leu)
c.757A>C (p.Ile253Leu)
c.871A>C (p.Ile291Leu)
c.727A>C (p.Ile243Leu)
c.946A>C (p.Ile316Leu)
c.856A>C (p.Ile286Leu)
gnomAD v4
22g.35761215G>ACA514339619RBFOX2c.861C>T (p.Tyr287=)
c.741C>T (p.Tyr247=)
c.*272C>T (n.*272C>T)
c.*248C>T (n.*248C>T)
c.*191C>T (n.*191C>T)
c.951C>T (p.Tyr317=)
c.684C>T (p.Tyr228=)
c.678C>T (p.Tyr226=)
c.681C>T (p.Tyr227=)
c.738C>T (p.Tyr246=)
c.296C>T
c.948C>T (p.Tyr316=)
c.807C>T (p.Tyr269=)
c.804C>T (p.Tyr268=)
c.729C>T (p.Tyr243=)
c.777C>T (p.Tyr259=)
c.711C>T (p.Tyr237=)
c.873C>T (p.Tyr291=)
c.759C>T (p.Tyr253=)
c.756C>T (p.Tyr252=)
c.870C>T (p.Tyr290=)
c.726C>T (p.Tyr242=)
c.945C>T (p.Tyr315=)
c.855C>T (p.Tyr285=)
22g.35761215G>CCA411358754RBFOX2c.861C>G (p.Tyr287Ter)
c.741C>G (p.Tyr247Ter)
c.*272C>G (n.*272C>G)
c.*248C>G (n.*248C>G)
c.*191C>G (n.*191C>G)
c.951C>G (p.Tyr317Ter)
c.684C>G (p.Tyr228Ter)
c.678C>G (p.Tyr226Ter)
c.681C>G (p.Tyr227Ter)
c.738C>G (p.Tyr246Ter)
c.296C>G
c.948C>G (p.Tyr316Ter)
c.807C>G (p.Tyr269Ter)
c.804C>G (p.Tyr268Ter)
c.729C>G (p.Tyr243Ter)
c.777C>G (p.Tyr259Ter)
c.711C>G (p.Tyr237Ter)
c.873C>G (p.Tyr291Ter)
c.759C>G (p.Tyr253Ter)
c.756C>G (p.Tyr252Ter)
c.870C>G (p.Tyr290Ter)
c.726C>G (p.Tyr242Ter)
c.945C>G (p.Tyr315Ter)
c.855C>G (p.Tyr285Ter)
22g.35761215G>TCA411358758RBFOX2c.861C>A (p.Tyr287Ter)
c.741C>A (p.Tyr247Ter)
c.*272C>A (n.*272C>A)
c.*248C>A (n.*248C>A)
c.*191C>A (n.*191C>A)
c.951C>A (p.Tyr317Ter)
c.684C>A (p.Tyr228Ter)
c.678C>A (p.Tyr226Ter)
c.681C>A (p.Tyr227Ter)
c.738C>A (p.Tyr246Ter)
c.296C>A
c.948C>A (p.Tyr316Ter)
c.807C>A (p.Tyr269Ter)
c.804C>A (p.Tyr268Ter)
c.729C>A (p.Tyr243Ter)
c.777C>A (p.Tyr259Ter)
c.711C>A (p.Tyr237Ter)
c.873C>A (p.Tyr291Ter)
c.759C>A (p.Tyr253Ter)
c.756C>A (p.Tyr252Ter)
c.870C>A (p.Tyr290Ter)
c.726C>A (p.Tyr242Ter)
c.945C>A (p.Tyr315Ter)
c.855C>A (p.Tyr285Ter)
22g.35761216T>ACA411358762RBFOX2c.860A>T (p.Tyr287Phe)
c.740A>T (p.Tyr247Phe)
c.*271A>T (n.*271A>T)
c.*247A>T (n.*247A>T)
c.*190A>T (n.*190A>T)
c.950A>T (p.Tyr317Phe)
c.683A>T (p.Tyr228Phe)
c.677A>T (p.Tyr226Phe)
c.680A>T (p.Tyr227Phe)
c.737A>T (p.Tyr246Phe)
c.295A>T
c.947A>T (p.Tyr316Phe)
c.806A>T (p.Tyr269Phe)
c.803A>T (p.Tyr268Phe)
c.728A>T (p.Tyr243Phe)
c.776A>T (p.Tyr259Phe)
c.710A>T (p.Tyr237Phe)
c.872A>T (p.Tyr291Phe)
c.758A>T (p.Tyr253Phe)
c.755A>T (p.Tyr252Phe)
c.869A>T (p.Tyr290Phe)
c.725A>T (p.Tyr242Phe)
c.944A>T (p.Tyr315Phe)
c.854A>T (p.Tyr285Phe)
22g.35761216T>CCA411358764RBFOX2c.860A>G (p.Tyr287Cys)
c.740A>G (p.Tyr247Cys)
c.*271A>G (n.*271A>G)
c.*247A>G (n.*247A>G)
c.*190A>G (n.*190A>G)
c.950A>G (p.Tyr317Cys)
c.683A>G (p.Tyr228Cys)
c.677A>G (p.Tyr226Cys)
c.680A>G (p.Tyr227Cys)
c.737A>G (p.Tyr246Cys)
c.295A>G
c.947A>G (p.Tyr316Cys)
c.806A>G (p.Tyr269Cys)
c.803A>G (p.Tyr268Cys)
c.728A>G (p.Tyr243Cys)
c.776A>G (p.Tyr259Cys)
c.710A>G (p.Tyr237Cys)
c.872A>G (p.Tyr291Cys)
c.758A>G (p.Tyr253Cys)
c.755A>G (p.Tyr252Cys)
c.869A>G (p.Tyr290Cys)
c.725A>G (p.Tyr242Cys)
c.944A>G (p.Tyr315Cys)
c.854A>G (p.Tyr285Cys)
22g.35761216T>GCA411358761RBFOX2c.860A>C (p.Tyr287Ser)
c.740A>C (p.Tyr247Ser)
c.*271A>C (n.*271A>C)
c.*247A>C (n.*247A>C)
c.*190A>C (n.*190A>C)
c.950A>C (p.Tyr317Ser)
c.683A>C (p.Tyr228Ser)
c.677A>C (p.Tyr226Ser)
c.680A>C (p.Tyr227Ser)
c.737A>C (p.Tyr246Ser)
c.295A>C
c.947A>C (p.Tyr316Ser)
c.806A>C (p.Tyr269Ser)
c.803A>C (p.Tyr268Ser)
c.728A>C (p.Tyr243Ser)
c.776A>C (p.Tyr259Ser)
c.710A>C (p.Tyr237Ser)
c.872A>C (p.Tyr291Ser)
c.758A>C (p.Tyr253Ser)
c.755A>C (p.Tyr252Ser)
c.869A>C (p.Tyr290Ser)
c.725A>C (p.Tyr242Ser)
c.944A>C (p.Tyr315Ser)
c.854A>C (p.Tyr285Ser)
22g.35761216_35761217insTTCA2656389519RBFOX2c.860_861insAA (p.Tyr287Ter)
c.740_741insAA (p.Tyr247Ter)
c.*271_*272insAA (n.*271_*272insAA)
c.*247_*248insAA (n.*247_*248insAA)
c.*190_*191insAA (n.*190_*191insAA)
c.950_951insAA (p.Tyr317Ter)
c.683_684insAA (p.Tyr228Ter)
c.677_678insAA (p.Tyr226Ter)
c.680_681insAA (p.Tyr227Ter)
c.737_738insAA (p.Tyr246Ter)
c.295_296insAA
c.947_948insAA (p.Tyr316Ter)
c.806_807insAA (p.Tyr269Ter)
c.803_804insAA (p.Tyr268Ter)
c.728_729insAA (p.Tyr243Ter)
c.776_777insAA (p.Tyr259Ter)
c.710_711insAA (p.Tyr237Ter)
c.872_873insAA (p.Tyr291Ter)
c.758_759insAA (p.Tyr253Ter)
c.755_756insAA (p.Tyr252Ter)
c.869_870insAA (p.Tyr290Ter)
c.725_726insAA (p.Tyr242Ter)
c.944_945insAA (p.Tyr315Ter)
c.854_855insAA (p.Tyr285Ter)
gnomAD v4
22g.35761217A>CCA411358768RBFOX2c.859T>G (p.Tyr287Asp)
c.739T>G (p.Tyr247Asp)
c.*270T>G (n.*270T>G)
c.*246T>G (n.*246T>G)
c.*189T>G (n.*189T>G)
c.949T>G (p.Tyr317Asp)
c.682T>G (p.Tyr228Asp)
c.676T>G (p.Tyr226Asp)
c.679T>G (p.Tyr227Asp)
c.736T>G (p.Tyr246Asp)
c.294T>G
c.946T>G (p.Tyr316Asp)
c.805T>G (p.Tyr269Asp)
c.802T>G (p.Tyr268Asp)
c.727T>G (p.Tyr243Asp)
c.775T>G (p.Tyr259Asp)
c.709T>G (p.Tyr237Asp)
c.871T>G (p.Tyr291Asp)
c.757T>G (p.Tyr253Asp)
c.754T>G (p.Tyr252Asp)
c.868T>G (p.Tyr290Asp)
c.724T>G (p.Tyr242Asp)
c.943T>G (p.Tyr315Asp)
c.853T>G (p.Tyr285Asp)
22g.35761217A>GCA411358766RBFOX2c.859T>C (p.Tyr287His)
c.739T>C (p.Tyr247His)
c.*270T>C (n.*270T>C)
c.*246T>C (n.*246T>C)
c.*189T>C (n.*189T>C)
c.949T>C (p.Tyr317His)
c.682T>C (p.Tyr228His)
c.676T>C (p.Tyr226His)
c.679T>C (p.Tyr227His)
c.736T>C (p.Tyr246His)
c.294T>C
c.946T>C (p.Tyr316His)
c.805T>C (p.Tyr269His)
c.802T>C (p.Tyr268His)
c.727T>C (p.Tyr243His)
c.775T>C (p.Tyr259His)
c.709T>C (p.Tyr237His)
c.871T>C (p.Tyr291His)
c.757T>C (p.Tyr253His)
c.754T>C (p.Tyr252His)
c.868T>C (p.Tyr290His)
c.724T>C (p.Tyr242His)
c.943T>C (p.Tyr315His)
c.853T>C (p.Tyr285His)
22g.35761217A>TCA411358770RBFOX2c.859T>A (p.Tyr287Asn)
c.739T>A (p.Tyr247Asn)
c.*270T>A (n.*270T>A)
c.*246T>A (n.*246T>A)
c.*189T>A (n.*189T>A)
c.949T>A (p.Tyr317Asn)
c.682T>A (p.Tyr228Asn)
c.676T>A (p.Tyr226Asn)
c.679T>A (p.Tyr227Asn)
c.736T>A (p.Tyr246Asn)
c.294T>A
c.946T>A (p.Tyr316Asn)
c.805T>A (p.Tyr269Asn)
c.802T>A (p.Tyr268Asn)
c.727T>A (p.Tyr243Asn)
c.775T>A (p.Tyr259Asn)
c.709T>A (p.Tyr237Asn)
c.871T>A (p.Tyr291Asn)
c.757T>A (p.Tyr253Asn)
c.754T>A (p.Tyr252Asn)
c.868T>A (p.Tyr290Asn)
c.724T>A (p.Tyr242Asn)
c.943T>A (p.Tyr315Asn)
c.853T>A (p.Tyr285Asn)
22g.35761218A>CCA514339623RBFOX2c.858T>G (p.Thr286=)
c.738T>G (p.Thr246=)
c.*269T>G (n.*269T>G)
c.*245T>G (n.*245T>G)
c.*188T>G (n.*188T>G)
c.948T>G (p.Thr316=)
c.681T>G (p.Thr227=)
c.675T>G (p.Thr225=)
c.678T>G (p.Thr226=)
c.735T>G (p.Thr245=)
c.293T>G
c.945T>G (p.Thr315=)
c.804T>G (p.Thr268=)
c.801T>G (p.Thr267=)
c.726T>G (p.Thr242=)
c.774T>G (p.Thr258=)
c.708T>G (p.Thr236=)
c.870T>G (p.Thr290=)
c.756T>G (p.Thr252=)
c.753T>G (p.Thr251=)
c.867T>G (p.Thr289=)
c.723T>G (p.Thr241=)
c.942T>G (p.Thr314=)
c.852T>G (p.Thr284=)
22g.35761218A>GCA514339622RBFOX2c.858T>C (p.Thr286=)
c.738T>C (p.Thr246=)
c.*269T>C (n.*269T>C)
c.*245T>C (n.*245T>C)
c.*188T>C (n.*188T>C)
c.948T>C (p.Thr316=)
c.681T>C (p.Thr227=)
c.675T>C (p.Thr225=)
c.678T>C (p.Thr226=)
c.735T>C (p.Thr245=)
c.293T>C
c.945T>C (p.Thr315=)
c.804T>C (p.Thr268=)
c.801T>C (p.Thr267=)
c.726T>C (p.Thr242=)
c.774T>C (p.Thr258=)
c.708T>C (p.Thr236=)
c.870T>C (p.Thr290=)
c.756T>C (p.Thr252=)
c.753T>C (p.Thr251=)
c.867T>C (p.Thr289=)
c.723T>C (p.Thr241=)
c.942T>C (p.Thr314=)
c.852T>C (p.Thr284=)
22g.35761218A>TCA514339621RBFOX2c.858T>A (p.Thr286=)
c.738T>A (p.Thr246=)
c.*269T>A (n.*269T>A)
c.*245T>A (n.*245T>A)
c.*188T>A (n.*188T>A)
c.948T>A (p.Thr316=)
c.681T>A (p.Thr227=)
c.675T>A (p.Thr225=)
c.678T>A (p.Thr226=)
c.735T>A (p.Thr245=)
c.293T>A
c.945T>A (p.Thr315=)
c.804T>A (p.Thr268=)
c.801T>A (p.Thr267=)
c.726T>A (p.Thr242=)
c.774T>A (p.Thr258=)
c.708T>A (p.Thr236=)
c.870T>A (p.Thr290=)
c.756T>A (p.Thr252=)
c.753T>A (p.Thr251=)
c.867T>A (p.Thr289=)
c.723T>A (p.Thr241=)
c.942T>A (p.Thr314=)
c.852T>A (p.Thr284=)
22g.35761219G>ACA411358774RBFOX2c.857C>T (p.Thr286Ile)
c.737C>T (p.Thr246Ile)
c.*268C>T (n.*268C>T)
c.*244C>T (n.*244C>T)
c.*187C>T (n.*187C>T)
c.947C>T (p.Thr316Ile)
c.680C>T (p.Thr227Ile)
c.674C>T (p.Thr225Ile)
c.677C>T (p.Thr226Ile)
c.734C>T (p.Thr245Ile)
c.292C>T
c.944C>T (p.Thr315Ile)
c.803C>T (p.Thr268Ile)
c.800C>T (p.Thr267Ile)
c.725C>T (p.Thr242Ile)
c.773C>T (p.Thr258Ile)
c.707C>T (p.Thr236Ile)
c.869C>T (p.Thr290Ile)
c.755C>T (p.Thr252Ile)
c.752C>T (p.Thr251Ile)
c.866C>T (p.Thr289Ile)
c.722C>T (p.Thr241Ile)
c.941C>T (p.Thr314Ile)
c.851C>T (p.Thr284Ile)
22g.35761219G>CCA411358789RBFOX2c.857C>G (p.Thr286Ser)
c.737C>G (p.Thr246Ser)
c.*268C>G (n.*268C>G)
c.*244C>G (n.*244C>G)
c.*187C>G (n.*187C>G)
c.947C>G (p.Thr316Ser)
c.680C>G (p.Thr227Ser)
c.674C>G (p.Thr225Ser)
c.677C>G (p.Thr226Ser)
c.734C>G (p.Thr245Ser)
c.292C>G
c.944C>G (p.Thr315Ser)
c.803C>G (p.Thr268Ser)
c.800C>G (p.Thr267Ser)
c.725C>G (p.Thr242Ser)
c.773C>G (p.Thr258Ser)
c.707C>G (p.Thr236Ser)
c.869C>G (p.Thr290Ser)
c.755C>G (p.Thr252Ser)
c.752C>G (p.Thr251Ser)
c.866C>G (p.Thr289Ser)
c.722C>G (p.Thr241Ser)
c.941C>G (p.Thr314Ser)
c.851C>G (p.Thr284Ser)
22g.35761219G>TCA411358777RBFOX2c.857C>A (p.Thr286Asn)
c.737C>A (p.Thr246Asn)
c.*268C>A (n.*268C>A)
c.*244C>A (n.*244C>A)
c.*187C>A (n.*187C>A)
c.947C>A (p.Thr316Asn)
c.680C>A (p.Thr227Asn)
c.674C>A (p.Thr225Asn)
c.677C>A (p.Thr226Asn)
c.734C>A (p.Thr245Asn)
c.292C>A
c.944C>A (p.Thr315Asn)
c.803C>A (p.Thr268Asn)
c.800C>A (p.Thr267Asn)
c.725C>A (p.Thr242Asn)
c.773C>A (p.Thr258Asn)
c.707C>A (p.Thr236Asn)
c.869C>A (p.Thr290Asn)
c.755C>A (p.Thr252Asn)
c.752C>A (p.Thr251Asn)
c.866C>A (p.Thr289Asn)
c.722C>A (p.Thr241Asn)
c.941C>A (p.Thr314Asn)
c.851C>A (p.Thr284Asn)
22g.35761220T>ACA411358794RBFOX2c.856A>T (p.Thr286Ser)
c.736A>T (p.Thr246Ser)
c.*267A>T (n.*267A>T)
c.*243A>T (n.*243A>T)
c.*186A>T (n.*186A>T)
c.946A>T (p.Thr316Ser)
c.679A>T (p.Thr227Ser)
c.673A>T (p.Thr225Ser)
c.676A>T (p.Thr226Ser)
c.733A>T (p.Thr245Ser)
c.291A>T
c.943A>T (p.Thr315Ser)
c.802A>T (p.Thr268Ser)
c.799A>T (p.Thr267Ser)
c.724A>T (p.Thr242Ser)
c.772A>T (p.Thr258Ser)
c.706A>T (p.Thr236Ser)
c.868A>T (p.Thr290Ser)
c.754A>T (p.Thr252Ser)
c.751A>T (p.Thr251Ser)
c.865A>T (p.Thr289Ser)
c.721A>T (p.Thr241Ser)
c.940A>T (p.Thr314Ser)
c.850A>T (p.Thr284Ser)
22g.35761220T>CCA411358796RBFOX2c.856A>G (p.Thr286Ala)
c.736A>G (p.Thr246Ala)
c.*267A>G (n.*267A>G)
c.*243A>G (n.*243A>G)
c.*186A>G (n.*186A>G)
c.946A>G (p.Thr316Ala)
c.679A>G (p.Thr227Ala)
c.673A>G (p.Thr225Ala)
c.676A>G (p.Thr226Ala)
c.733A>G (p.Thr245Ala)
c.291A>G
c.943A>G (p.Thr315Ala)
c.802A>G (p.Thr268Ala)
c.799A>G (p.Thr267Ala)
c.724A>G (p.Thr242Ala)
c.772A>G (p.Thr258Ala)
c.706A>G (p.Thr236Ala)
c.868A>G (p.Thr290Ala)
c.754A>G (p.Thr252Ala)
c.751A>G (p.Thr251Ala)
c.865A>G (p.Thr289Ala)
c.721A>G (p.Thr241Ala)
c.940A>G (p.Thr314Ala)
c.850A>G (p.Thr284Ala)
gnomAD v4
22g.35761220T>GCA411358798RBFOX2c.856A>C (p.Thr286Pro)
c.736A>C (p.Thr246Pro)
c.*267A>C (n.*267A>C)
c.*243A>C (n.*243A>C)
c.*186A>C (n.*186A>C)
c.946A>C (p.Thr316Pro)
c.679A>C (p.Thr227Pro)
c.673A>C (p.Thr225Pro)
c.676A>C (p.Thr226Pro)
c.733A>C (p.Thr245Pro)
c.291A>C
c.943A>C (p.Thr315Pro)
c.802A>C (p.Thr268Pro)
c.799A>C (p.Thr267Pro)
c.724A>C (p.Thr242Pro)
c.772A>C (p.Thr258Pro)
c.706A>C (p.Thr236Pro)
c.868A>C (p.Thr290Pro)
c.754A>C (p.Thr252Pro)
c.751A>C (p.Thr251Pro)
c.865A>C (p.Thr289Pro)
c.721A>C (p.Thr241Pro)
c.940A>C (p.Thr314Pro)
c.850A>C (p.Thr284Pro)
22g.35761221G>ACA514339624RBFOX2c.855C>T (p.Asn285=)
c.735C>T (p.Asn245=)
c.*266C>T (n.*266C>T)
c.*242C>T (n.*242C>T)
c.*185C>T (n.*185C>T)
c.945C>T (p.Asn315=)
c.678C>T (p.Asn226=)
c.672C>T (p.Asn224=)
c.675C>T (p.Asn225=)
c.732C>T (p.Asn244=)
c.290C>T
c.942C>T (p.Asn314=)
c.801C>T (p.Asn267=)
c.798C>T (p.Asn266=)
c.723C>T (p.Asn241=)
c.771C>T (p.Asn257=)
c.705C>T (p.Asn235=)
c.867C>T (p.Asn289=)
c.753C>T (p.Asn251=)
c.750C>T (p.Asn250=)
c.864C>T (p.Asn288=)
c.720C>T (p.Asn240=)
c.939C>T (p.Asn313=)
c.849C>T (p.Asn283=)
22g.35761221G>CCA411358799RBFOX2c.855C>G (p.Asn285Lys)
c.735C>G (p.Asn245Lys)
c.*266C>G (n.*266C>G)
c.*242C>G (n.*242C>G)
c.*185C>G (n.*185C>G)
c.945C>G (p.Asn315Lys)
c.678C>G (p.Asn226Lys)
c.672C>G (p.Asn224Lys)
c.675C>G (p.Asn225Lys)
c.732C>G (p.Asn244Lys)
c.290C>G
c.942C>G (p.Asn314Lys)
c.801C>G (p.Asn267Lys)
c.798C>G (p.Asn266Lys)
c.723C>G (p.Asn241Lys)
c.771C>G (p.Asn257Lys)
c.705C>G (p.Asn235Lys)
c.867C>G (p.Asn289Lys)
c.753C>G (p.Asn251Lys)
c.750C>G (p.Asn250Lys)
c.864C>G (p.Asn288Lys)
c.720C>G (p.Asn240Lys)
c.939C>G (p.Asn313Lys)
c.849C>G (p.Asn283Lys)
22g.35761221G>TCA411358801RBFOX2c.855C>A (p.Asn285Lys)
c.735C>A (p.Asn245Lys)
c.*266C>A (n.*266C>A)
c.*242C>A (n.*242C>A)
c.*185C>A (n.*185C>A)
c.945C>A (p.Asn315Lys)
c.678C>A (p.Asn226Lys)
c.672C>A (p.Asn224Lys)
c.675C>A (p.Asn225Lys)
c.732C>A (p.Asn244Lys)
c.290C>A
c.942C>A (p.Asn314Lys)
c.801C>A (p.Asn267Lys)
c.798C>A (p.Asn266Lys)
c.723C>A (p.Asn241Lys)
c.771C>A (p.Asn257Lys)
c.705C>A (p.Asn235Lys)
c.867C>A (p.Asn289Lys)
c.753C>A (p.Asn251Lys)
c.750C>A (p.Asn250Lys)
c.864C>A (p.Asn288Lys)
c.720C>A (p.Asn240Lys)
c.939C>A (p.Asn313Lys)
c.849C>A (p.Asn283Lys)
22g.35761222T>ACA411358803RBFOX2c.854A>T (p.Asn285Ile)
c.734A>T (p.Asn245Ile)
c.*265A>T (n.*265A>T)
c.*241A>T (n.*241A>T)
c.*184A>T (n.*184A>T)
c.944A>T (p.Asn315Ile)
c.677A>T (p.Asn226Ile)
c.671A>T (p.Asn224Ile)
c.674A>T (p.Asn225Ile)
c.731A>T (p.Asn244Ile)
c.289A>T
c.941A>T (p.Asn314Ile)
c.800A>T (p.Asn267Ile)
c.797A>T (p.Asn266Ile)
c.722A>T (p.Asn241Ile)
c.770A>T (p.Asn257Ile)
c.704A>T (p.Asn235Ile)
c.866A>T (p.Asn289Ile)
c.752A>T (p.Asn251Ile)
c.749A>T (p.Asn250Ile)
c.863A>T (p.Asn288Ile)
c.719A>T (p.Asn240Ile)
c.938A>T (p.Asn313Ile)
c.848A>T (p.Asn283Ile)
22g.35761222T>CCA411358804RBFOX2c.854A>G (p.Asn285Ser)
c.734A>G (p.Asn245Ser)
c.*265A>G (n.*265A>G)
c.*241A>G (n.*241A>G)
c.*184A>G (n.*184A>G)
c.944A>G (p.Asn315Ser)
c.677A>G (p.Asn226Ser)
c.671A>G (p.Asn224Ser)
c.674A>G (p.Asn225Ser)
c.731A>G (p.Asn244Ser)
c.289A>G
c.941A>G (p.Asn314Ser)
c.800A>G (p.Asn267Ser)
c.797A>G (p.Asn266Ser)
c.722A>G (p.Asn241Ser)
c.770A>G (p.Asn257Ser)
c.704A>G (p.Asn235Ser)
c.866A>G (p.Asn289Ser)
c.752A>G (p.Asn251Ser)
c.749A>G (p.Asn250Ser)
c.863A>G (p.Asn288Ser)
c.719A>G (p.Asn240Ser)
c.938A>G (p.Asn313Ser)
c.848A>G (p.Asn283Ser)
gnomAD v4
22g.35761222T>GCA411358807RBFOX2c.854A>C (p.Asn285Thr)
c.734A>C (p.Asn245Thr)
c.*265A>C (n.*265A>C)
c.*241A>C (n.*241A>C)
c.*184A>C (n.*184A>C)
c.944A>C (p.Asn315Thr)
c.677A>C (p.Asn226Thr)
c.671A>C (p.Asn224Thr)
c.674A>C (p.Asn225Thr)
c.731A>C (p.Asn244Thr)
c.289A>C
c.941A>C (p.Asn314Thr)
c.800A>C (p.Asn267Thr)
c.797A>C (p.Asn266Thr)
c.722A>C (p.Asn241Thr)
c.770A>C (p.Asn257Thr)
c.704A>C (p.Asn235Thr)
c.866A>C (p.Asn289Thr)
c.752A>C (p.Asn251Thr)
c.749A>C (p.Asn250Thr)
c.863A>C (p.Asn288Thr)
c.719A>C (p.Asn240Thr)
c.938A>C (p.Asn313Thr)
c.848A>C (p.Asn283Thr)
22g.35761223T>ACA411358808RBFOX2c.853A>T (p.Asn285Tyr)
c.733A>T (p.Asn245Tyr)
c.*264A>T (n.*264A>T)
c.*240A>T (n.*240A>T)
c.*183A>T (n.*183A>T)
c.943A>T (p.Asn315Tyr)
c.676A>T (p.Asn226Tyr)
c.670A>T (p.Asn224Tyr)
c.673A>T (p.Asn225Tyr)
c.730A>T (p.Asn244Tyr)
c.288A>T
c.940A>T (p.Asn314Tyr)
c.799A>T (p.Asn267Tyr)
c.796A>T (p.Asn266Tyr)
c.721A>T (p.Asn241Tyr)
c.769A>T (p.Asn257Tyr)
c.703A>T (p.Asn235Tyr)
c.865A>T (p.Asn289Tyr)
c.751A>T (p.Asn251Tyr)
c.748A>T (p.Asn250Tyr)
c.862A>T (p.Asn288Tyr)
c.718A>T (p.Asn240Tyr)
c.937A>T (p.Asn313Tyr)
c.847A>T (p.Asn283Tyr)
22g.35761223T>CCA411358810RBFOX2c.853A>G (p.Asn285Asp)
c.733A>G (p.Asn245Asp)
c.*264A>G (n.*264A>G)
c.*240A>G (n.*240A>G)
c.*183A>G (n.*183A>G)
c.943A>G (p.Asn315Asp)
c.676A>G (p.Asn226Asp)
c.670A>G (p.Asn224Asp)
c.673A>G (p.Asn225Asp)
c.730A>G (p.Asn244Asp)
c.288A>G
c.940A>G (p.Asn314Asp)
c.799A>G (p.Asn267Asp)
c.796A>G (p.Asn266Asp)
c.721A>G (p.Asn241Asp)
c.769A>G (p.Asn257Asp)
c.703A>G (p.Asn235Asp)
c.865A>G (p.Asn289Asp)
c.751A>G (p.Asn251Asp)
c.748A>G (p.Asn250Asp)
c.862A>G (p.Asn288Asp)
c.718A>G (p.Asn240Asp)
c.937A>G (p.Asn313Asp)
c.847A>G (p.Asn283Asp)
dbSNP
22g.35761223T>GCA411358809RBFOX2c.853A>C (p.Asn285His)
c.733A>C (p.Asn245His)
c.*264A>C (n.*264A>C)
c.*240A>C (n.*240A>C)
c.*183A>C (n.*183A>C)
c.943A>C (p.Asn315His)
c.676A>C (p.Asn226His)
c.670A>C (p.Asn224His)
c.673A>C (p.Asn225His)
c.730A>C (p.Asn244His)
c.288A>C
c.940A>C (p.Asn314His)
c.799A>C (p.Asn267His)
c.796A>C (p.Asn266His)
c.721A>C (p.Asn241His)
c.769A>C (p.Asn257His)
c.703A>C (p.Asn235His)
c.865A>C (p.Asn289His)
c.751A>C (p.Asn251His)
c.748A>C (p.Asn250His)
c.862A>C (p.Asn288His)
c.718A>C (p.Asn240His)
c.937A>C (p.Asn313His)
c.847A>C (p.Asn283His)
22g.35761223T=CA2403556510RBFOX2c.853A= (p.Asn285=)
c.733A= (p.Asn245=)
c.*264A= (n.*264A=)
c.*240A= (n.*240A=)
c.*183A= (n.*183A=)
c.943A= (p.Asn315=)
c.676A= (p.Asn226=)
c.670A= (p.Asn224=)
c.673A= (p.Asn225=)
c.730A= (p.Asn244=)
c.288A=
c.940A= (p.Asn314=)
c.799A= (p.Asn267=)
c.796A= (p.Asn266=)
c.721A= (p.Asn241=)
c.769A= (p.Asn257=)
c.703A= (p.Asn235=)
c.865A= (p.Asn289=)
c.751A= (p.Asn251=)
c.748A= (p.Asn250=)
c.862A= (p.Asn288=)
c.718A= (p.Asn240=)
c.937A= (p.Asn313=)
c.847A= (p.Asn283=)
22g.35761224G>ACA514339625RBFOX2c.852C>T (p.Ile284=)
c.732C>T (p.Ile244=)
c.*263C>T (n.*263C>T)
c.*239C>T (n.*239C>T)
c.*182C>T (n.*182C>T)
c.942C>T (p.Ile314=)
c.675C>T (p.Ile225=)
c.669C>T (p.Ile223=)
c.672C>T (p.Ile224=)
c.729C>T (p.Ile243=)
c.287C>T
c.939C>T (p.Ile313=)
c.798C>T (p.Ile266=)
c.795C>T (p.Ile265=)
c.720C>T (p.Ile240=)
c.768C>T (p.Ile256=)
c.702C>T (p.Ile234=)
c.864C>T (p.Ile288=)
c.750C>T (p.Ile250=)
c.747C>T (p.Ile249=)
c.861C>T (p.Ile287=)
c.717C>T (p.Ile239=)
c.936C>T (p.Ile312=)
c.846C>T (p.Ile282=)
22g.35761224G>CCA411358811RBFOX2c.852C>G (p.Ile284Met)
c.732C>G (p.Ile244Met)
c.*263C>G (n.*263C>G)
c.*239C>G (n.*239C>G)
c.*182C>G (n.*182C>G)
c.942C>G (p.Ile314Met)
c.675C>G (p.Ile225Met)
c.669C>G (p.Ile223Met)
c.672C>G (p.Ile224Met)
c.729C>G (p.Ile243Met)
c.287C>G
c.939C>G (p.Ile313Met)
c.798C>G (p.Ile266Met)
c.795C>G (p.Ile265Met)
c.720C>G (p.Ile240Met)
c.768C>G (p.Ile256Met)
c.702C>G (p.Ile234Met)
c.864C>G (p.Ile288Met)
c.750C>G (p.Ile250Met)
c.747C>G (p.Ile249Met)
c.861C>G (p.Ile287Met)
c.717C>G (p.Ile239Met)
c.936C>G (p.Ile312Met)
c.846C>G (p.Ile282Met)
22g.35761224G>TCA514339626RBFOX2c.852C>A (p.Ile284=)
c.732C>A (p.Ile244=)
c.*263C>A (n.*263C>A)
c.*239C>A (n.*239C>A)
c.*182C>A (n.*182C>A)
c.942C>A (p.Ile314=)
c.675C>A (p.Ile225=)
c.669C>A (p.Ile223=)
c.672C>A (p.Ile224=)
c.729C>A (p.Ile243=)
c.287C>A
c.939C>A (p.Ile313=)
c.798C>A (p.Ile266=)
c.795C>A (p.Ile265=)
c.720C>A (p.Ile240=)
c.768C>A (p.Ile256=)
c.702C>A (p.Ile234=)
c.864C>A (p.Ile288=)
c.750C>A (p.Ile250=)
c.747C>A (p.Ile249=)
c.861C>A (p.Ile287=)
c.717C>A (p.Ile239=)
c.936C>A (p.Ile312=)
c.846C>A (p.Ile282=)
22g.35761225A>CCA411358813RBFOX2c.851T>G (p.Ile284Ser)
c.731T>G (p.Ile244Ser)
c.*262T>G (n.*262T>G)
c.*238T>G (n.*238T>G)
c.*181T>G (n.*181T>G)
c.941T>G (p.Ile314Ser)
c.674T>G (p.Ile225Ser)
c.668T>G (p.Ile223Ser)
c.671T>G (p.Ile224Ser)
c.728T>G (p.Ile243Ser)
c.286T>G
c.938T>G (p.Ile313Ser)
c.797T>G (p.Ile266Ser)
c.794T>G (p.Ile265Ser)
c.719T>G (p.Ile240Ser)
c.767T>G (p.Ile256Ser)
c.701T>G (p.Ile234Ser)
c.863T>G (p.Ile288Ser)
c.749T>G (p.Ile250Ser)
c.746T>G (p.Ile249Ser)
c.860T>G (p.Ile287Ser)
c.716T>G (p.Ile239Ser)
c.935T>G (p.Ile312Ser)
c.845T>G (p.Ile282Ser)
22g.35761225A>GCA411358814RBFOX2c.851T>C (p.Ile284Thr)
c.731T>C (p.Ile244Thr)
c.*262T>C (n.*262T>C)
c.*238T>C (n.*238T>C)
c.*181T>C (n.*181T>C)
c.941T>C (p.Ile314Thr)
c.674T>C (p.Ile225Thr)
c.668T>C (p.Ile223Thr)
c.671T>C (p.Ile224Thr)
c.728T>C (p.Ile243Thr)
c.286T>C
c.938T>C (p.Ile313Thr)
c.797T>C (p.Ile266Thr)
c.794T>C (p.Ile265Thr)
c.719T>C (p.Ile240Thr)
c.767T>C (p.Ile256Thr)
c.701T>C (p.Ile234Thr)
c.863T>C (p.Ile288Thr)
c.749T>C (p.Ile250Thr)
c.746T>C (p.Ile249Thr)
c.860T>C (p.Ile287Thr)
c.716T>C (p.Ile239Thr)
c.935T>C (p.Ile312Thr)
c.845T>C (p.Ile282Thr)
22g.35761225A>TCA411358816RBFOX2c.851T>A (p.Ile284Asn)
c.731T>A (p.Ile244Asn)
c.*262T>A (n.*262T>A)
c.*238T>A (n.*238T>A)
c.*181T>A (n.*181T>A)
c.941T>A (p.Ile314Asn)
c.674T>A (p.Ile225Asn)
c.668T>A (p.Ile223Asn)
c.671T>A (p.Ile224Asn)
c.728T>A (p.Ile243Asn)
c.286T>A
c.938T>A (p.Ile313Asn)
c.797T>A (p.Ile266Asn)
c.794T>A (p.Ile265Asn)
c.719T>A (p.Ile240Asn)
c.767T>A (p.Ile256Asn)
c.701T>A (p.Ile234Asn)
c.863T>A (p.Ile288Asn)
c.749T>A (p.Ile250Asn)
c.746T>A (p.Ile249Asn)
c.860T>A (p.Ile287Asn)
c.716T>A (p.Ile239Asn)
c.935T>A (p.Ile312Asn)
c.845T>A (p.Ile282Asn)
22g.35761226T>ACA411358820RBFOX2c.850A>T (p.Ile284Phe)
c.730A>T (p.Ile244Phe)
c.*261A>T (n.*261A>T)
c.*237A>T (n.*237A>T)
c.*180A>T (n.*180A>T)
c.940A>T (p.Ile314Phe)
c.673A>T (p.Ile225Phe)
c.667A>T (p.Ile223Phe)
c.670A>T (p.Ile224Phe)
c.727A>T (p.Ile243Phe)
c.285A>T
c.937A>T (p.Ile313Phe)
c.796A>T (p.Ile266Phe)
c.793A>T (p.Ile265Phe)
c.718A>T (p.Ile240Phe)
c.766A>T (p.Ile256Phe)
c.700A>T (p.Ile234Phe)
c.862A>T (p.Ile288Phe)
c.748A>T (p.Ile250Phe)
c.745A>T (p.Ile249Phe)
c.859A>T (p.Ile287Phe)
c.715A>T (p.Ile239Phe)
c.934A>T (p.Ile312Phe)
c.844A>T (p.Ile282Phe)
22g.35761226T>CCA411358818RBFOX2c.850A>G (p.Ile284Val)
c.730A>G (p.Ile244Val)
c.*261A>G (n.*261A>G)
c.*237A>G (n.*237A>G)
c.*180A>G (n.*180A>G)
c.940A>G (p.Ile314Val)
c.673A>G (p.Ile225Val)
c.667A>G (p.Ile223Val)
c.670A>G (p.Ile224Val)
c.727A>G (p.Ile243Val)
c.285A>G
c.937A>G (p.Ile313Val)
c.796A>G (p.Ile266Val)
c.793A>G (p.Ile265Val)
c.718A>G (p.Ile240Val)
c.766A>G (p.Ile256Val)
c.700A>G (p.Ile234Val)
c.862A>G (p.Ile288Val)
c.748A>G (p.Ile250Val)
c.745A>G (p.Ile249Val)
c.859A>G (p.Ile287Val)
c.715A>G (p.Ile239Val)
c.934A>G (p.Ile312Val)
c.844A>G (p.Ile282Val)
22g.35761226T>GCA411358819RBFOX2c.850A>C (p.Ile284Leu)
c.730A>C (p.Ile244Leu)
c.*261A>C (n.*261A>C)
c.*237A>C (n.*237A>C)
c.*180A>C (n.*180A>C)
c.940A>C (p.Ile314Leu)
c.673A>C (p.Ile225Leu)
c.667A>C (p.Ile223Leu)
c.670A>C (p.Ile224Leu)
c.727A>C (p.Ile243Leu)
c.285A>C
c.937A>C (p.Ile313Leu)
c.796A>C (p.Ile266Leu)
c.793A>C (p.Ile265Leu)
c.718A>C (p.Ile240Leu)
c.766A>C (p.Ile256Leu)
c.700A>C (p.Ile234Leu)
c.862A>C (p.Ile288Leu)
c.748A>C (p.Ile250Leu)
c.745A>C (p.Ile249Leu)
c.859A>C (p.Ile287Leu)
c.715A>C (p.Ile239Leu)
c.934A>C (p.Ile312Leu)
c.844A>C (p.Ile282Leu)
22g.35761227A>CCA514339627RBFOX2c.849T>G (p.Gly283=)
c.729T>G (p.Gly243=)
c.*260T>G (n.*260T>G)
c.*236T>G (n.*236T>G)
c.*179T>G (n.*179T>G)
c.939T>G (p.Gly313=)
c.672T>G (p.Gly224=)
c.666T>G (p.Gly222=)
c.669T>G (p.Gly223=)
c.726T>G (p.Gly242=)
c.284T>G
c.936T>G (p.Gly312=)
c.795T>G (p.Gly265=)
c.792T>G (p.Gly264=)
c.717T>G (p.Gly239=)
c.765T>G (p.Gly255=)
c.699T>G (p.Gly233=)
c.861T>G (p.Gly287=)
c.747T>G (p.Gly249=)
c.744T>G (p.Gly248=)
c.858T>G (p.Gly286=)
c.714T>G (p.Gly238=)
c.933T>G (p.Gly311=)
c.843T>G (p.Gly281=)
22g.35761227A>GCA514339628RBFOX2c.849T>C (p.Gly283=)
c.729T>C (p.Gly243=)
c.*260T>C (n.*260T>C)
c.*236T>C (n.*236T>C)
c.*179T>C (n.*179T>C)
c.939T>C (p.Gly313=)
c.672T>C (p.Gly224=)
c.666T>C (p.Gly222=)
c.669T>C (p.Gly223=)
c.726T>C (p.Gly242=)
c.284T>C
c.936T>C (p.Gly312=)
c.795T>C (p.Gly265=)
c.792T>C (p.Gly264=)
c.717T>C (p.Gly239=)
c.765T>C (p.Gly255=)
c.699T>C (p.Gly233=)
c.861T>C (p.Gly287=)
c.747T>C (p.Gly249=)
c.744T>C (p.Gly248=)
c.858T>C (p.Gly286=)
c.714T>C (p.Gly238=)
c.933T>C (p.Gly311=)
c.843T>C (p.Gly281=)
22g.35761227A>TCA514339629RBFOX2c.849T>A (p.Gly283=)
c.729T>A (p.Gly243=)
c.*260T>A (n.*260T>A)
c.*236T>A (n.*236T>A)
c.*179T>A (n.*179T>A)
c.939T>A (p.Gly313=)
c.672T>A (p.Gly224=)
c.666T>A (p.Gly222=)
c.669T>A (p.Gly223=)
c.726T>A (p.Gly242=)
c.284T>A
c.936T>A (p.Gly312=)
c.795T>A (p.Gly265=)
c.792T>A (p.Gly264=)
c.717T>A (p.Gly239=)
c.765T>A (p.Gly255=)
c.699T>A (p.Gly233=)
c.861T>A (p.Gly287=)
c.747T>A (p.Gly249=)
c.744T>A (p.Gly248=)
c.858T>A (p.Gly286=)
c.714T>A (p.Gly238=)
c.933T>A (p.Gly311=)
c.843T>A (p.Gly281=)
22g.35761228C>ACA411358821RBFOX2c.848G>T (p.Gly283Val)
c.728G>T (p.Gly243Val)
c.*259G>T (n.*259G>T)
c.*235G>T (n.*235G>T)
c.*178G>T (n.*178G>T)
c.938G>T (p.Gly313Val)
c.671G>T (p.Gly224Val)
c.665G>T (p.Gly222Val)
c.668G>T (p.Gly223Val)
c.725G>T (p.Gly242Val)
c.283G>T
c.935G>T (p.Gly312Val)
c.794G>T (p.Gly265Val)
c.791G>T (p.Gly264Val)
c.716G>T (p.Gly239Val)
c.764G>T (p.Gly255Val)
c.698G>T (p.Gly233Val)
c.860G>T (p.Gly287Val)
c.746G>T (p.Gly249Val)
c.743G>T (p.Gly248Val)
c.857G>T (p.Gly286Val)
c.713G>T (p.Gly238Val)
c.932G>T (p.Gly311Val)
c.842G>T (p.Gly281Val)
gnomAD v4
22g.35761228C=CA2403556511RBFOX2c.848G= (p.Gly283=)
c.728G= (p.Gly243=)
c.*259G= (n.*259G=)
c.*235G= (n.*235G=)
c.*178G= (n.*178G=)
c.938G= (p.Gly313=)
c.671G= (p.Gly224=)
c.665G= (p.Gly222=)
c.668G= (p.Gly223=)
c.725G= (p.Gly242=)
c.283G=
c.935G= (p.Gly312=)
c.794G= (p.Gly265=)
c.791G= (p.Gly264=)
c.716G= (p.Gly239=)
c.764G= (p.Gly255=)
c.698G= (p.Gly233=)
c.860G= (p.Gly287=)
c.746G= (p.Gly249=)
c.743G= (p.Gly248=)
c.857G= (p.Gly286=)
c.713G= (p.Gly238=)
c.932G= (p.Gly311=)
c.842G= (p.Gly281=)
22g.35761228C>GCA411358822RBFOX2c.848G>C (p.Gly283Ala)
c.728G>C (p.Gly243Ala)
c.*259G>C (n.*259G>C)
c.*235G>C (n.*235G>C)
c.*178G>C (n.*178G>C)
c.938G>C (p.Gly313Ala)
c.671G>C (p.Gly224Ala)
c.665G>C (p.Gly222Ala)
c.668G>C (p.Gly223Ala)
c.725G>C (p.Gly242Ala)
c.283G>C
c.935G>C (p.Gly312Ala)
c.794G>C (p.Gly265Ala)
c.791G>C (p.Gly264Ala)
c.716G>C (p.Gly239Ala)
c.764G>C (p.Gly255Ala)
c.698G>C (p.Gly233Ala)
c.860G>C (p.Gly287Ala)
c.746G>C (p.Gly249Ala)
c.743G>C (p.Gly248Ala)
c.857G>C (p.Gly286Ala)
c.713G>C (p.Gly238Ala)
c.932G>C (p.Gly311Ala)
c.842G>C (p.Gly281Ala)
22g.35761228C>TCA10206818RBFOX2c.848G>A (p.Gly283Asp)
c.728G>A (p.Gly243Asp)
c.*259G>A (n.*259G>A)
c.*235G>A (n.*235G>A)
c.*178G>A (n.*178G>A)
c.938G>A (p.Gly313Asp)
c.671G>A (p.Gly224Asp)
c.665G>A (p.Gly222Asp)
c.668G>A (p.Gly223Asp)
c.725G>A (p.Gly242Asp)
c.283G>A
c.935G>A (p.Gly312Asp)
c.794G>A (p.Gly265Asp)
c.791G>A (p.Gly264Asp)
c.716G>A (p.Gly239Asp)
c.764G>A (p.Gly255Asp)
c.698G>A (p.Gly233Asp)
c.860G>A (p.Gly287Asp)
c.746G>A (p.Gly249Asp)
c.743G>A (p.Gly248Asp)
c.857G>A (p.Gly286Asp)
c.713G>A (p.Gly238Asp)
c.932G>A (p.Gly311Asp)
c.842G>A (p.Gly281Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22g.35761229C>ACA411358825RBFOX2c.847G>T (p.Gly283Cys)
c.727G>T (p.Gly243Cys)
c.*258G>T (n.*258G>T)
c.*234G>T (n.*234G>T)
c.*177G>T (n.*177G>T)
c.937G>T (p.Gly313Cys)
c.670G>T (p.Gly224Cys)
c.664G>T (p.Gly222Cys)
c.667G>T (p.Gly223Cys)
c.724G>T (p.Gly242Cys)
c.282G>T
c.934G>T (p.Gly312Cys)
c.793G>T (p.Gly265Cys)
c.790G>T (p.Gly264Cys)
c.715G>T (p.Gly239Cys)
c.763G>T (p.Gly255Cys)
c.697G>T (p.Gly233Cys)
c.859G>T (p.Gly287Cys)
c.745G>T (p.Gly249Cys)
c.742G>T (p.Gly248Cys)
c.856G>T (p.Gly286Cys)
c.712G>T (p.Gly238Cys)
c.931G>T (p.Gly311Cys)
c.841G>T (p.Gly281Cys)
22g.35761229C=CA2403556512RBFOX2c.847G= (p.Gly283=)
c.727G= (p.Gly243=)
c.*258G= (n.*258G=)
c.*234G= (n.*234G=)
c.*177G= (n.*177G=)
c.937G= (p.Gly313=)
c.670G= (p.Gly224=)
c.664G= (p.Gly222=)
c.667G= (p.Gly223=)
c.724G= (p.Gly242=)
c.282G=
c.934G= (p.Gly312=)
c.793G= (p.Gly265=)
c.790G= (p.Gly264=)
c.715G= (p.Gly239=)
c.763G= (p.Gly255=)
c.697G= (p.Gly233=)
c.859G= (p.Gly287=)
c.745G= (p.Gly249=)
c.742G= (p.Gly248=)
c.856G= (p.Gly286=)
c.712G= (p.Gly238=)
c.931G= (p.Gly311=)
c.841G= (p.Gly281=)
22g.35761229C>GCA411358826RBFOX2c.847G>C (p.Gly283Arg)
c.727G>C (p.Gly243Arg)
c.*258G>C (n.*258G>C)
c.*234G>C (n.*234G>C)
c.*177G>C (n.*177G>C)
c.937G>C (p.Gly313Arg)
c.670G>C (p.Gly224Arg)
c.664G>C (p.Gly222Arg)
c.667G>C (p.Gly223Arg)
c.724G>C (p.Gly242Arg)
c.282G>C
c.934G>C (p.Gly312Arg)
c.793G>C (p.Gly265Arg)
c.790G>C (p.Gly264Arg)
c.715G>C (p.Gly239Arg)
c.763G>C (p.Gly255Arg)
c.697G>C (p.Gly233Arg)
c.859G>C (p.Gly287Arg)
c.745G>C (p.Gly249Arg)
c.742G>C (p.Gly248Arg)
c.856G>C (p.Gly286Arg)
c.712G>C (p.Gly238Arg)
c.931G>C (p.Gly311Arg)
c.841G>C (p.Gly281Arg)
22g.35761229C>TCA411358831RBFOX2c.847G>A (p.Gly283Ser)
c.727G>A (p.Gly243Ser)
c.*258G>A (n.*258G>A)
c.*234G>A (n.*234G>A)
c.*177G>A (n.*177G>A)
c.937G>A (p.Gly313Ser)
c.670G>A (p.Gly224Ser)
c.664G>A (p.Gly222Ser)
c.667G>A (p.Gly223Ser)
c.724G>A (p.Gly242Ser)
c.282G>A
c.934G>A (p.Gly312Ser)
c.793G>A (p.Gly265Ser)
c.790G>A (p.Gly264Ser)
c.715G>A (p.Gly239Ser)
c.763G>A (p.Gly255Ser)
c.697G>A (p.Gly233Ser)
c.859G>A (p.Gly287Ser)
c.745G>A (p.Gly249Ser)
c.742G>A (p.Gly248Ser)
c.856G>A (p.Gly286Ser)
c.712G>A (p.Gly238Ser)
c.931G>A (p.Gly311Ser)
c.841G>A (p.Gly281Ser)
dbSNP gnomAD v2 gnomAD v4
22g.35761230C>ACA514339630RBFOX2c.846G>T (p.Gly282=)
c.726G>T (p.Gly242=)
c.*257G>T (n.*257G>T)
c.*233G>T (n.*233G>T)
c.*176G>T (n.*176G>T)
c.936G>T (p.Gly312=)
c.669G>T (p.Gly223=)
c.663G>T (p.Gly221=)
c.666G>T (p.Gly222=)
c.723G>T (p.Gly241=)
c.281G>T
c.933G>T (p.Gly311=)
c.792G>T (p.Gly264=)
c.789G>T (p.Gly263=)
c.714G>T (p.Gly238=)
c.762G>T (p.Gly254=)
c.696G>T (p.Gly232=)
c.858G>T (p.Gly286=)
c.744G>T (p.Gly248=)
c.741G>T (p.Gly247=)
c.855G>T (p.Gly285=)
c.711G>T (p.Gly237=)
c.930G>T (p.Gly310=)
c.840G>T (p.Gly280=)
22g.35761230C=CA2403556513RBFOX2c.846G= (p.Gly282=)
c.726G= (p.Gly242=)
c.*257G= (n.*257G=)
c.*233G= (n.*233G=)
c.*176G= (n.*176G=)
c.936G= (p.Gly312=)
c.669G= (p.Gly223=)
c.663G= (p.Gly221=)
c.666G= (p.Gly222=)
c.723G= (p.Gly241=)
c.281G=
c.933G= (p.Gly311=)
c.792G= (p.Gly264=)
c.789G= (p.Gly263=)
c.714G= (p.Gly238=)
c.762G= (p.Gly254=)
c.696G= (p.Gly232=)
c.858G= (p.Gly286=)
c.744G= (p.Gly248=)
c.741G= (p.Gly247=)
c.855G= (p.Gly285=)
c.711G= (p.Gly237=)
c.930G= (p.Gly310=)
c.840G= (p.Gly280=)
22g.35761230C>GCA10206819RBFOX2c.846G>C (p.Gly282=)
c.726G>C (p.Gly242=)
c.*257G>C (n.*257G>C)
c.*233G>C (n.*233G>C)
c.*176G>C (n.*176G>C)
c.936G>C (p.Gly312=)
c.669G>C (p.Gly223=)
c.663G>C (p.Gly221=)
c.666G>C (p.Gly222=)
c.723G>C (p.Gly241=)
c.281G>C
c.933G>C (p.Gly311=)
c.792G>C (p.Gly264=)
c.789G>C (p.Gly263=)
c.714G>C (p.Gly238=)
c.762G>C (p.Gly254=)
c.696G>C (p.Gly232=)
c.858G>C (p.Gly286=)
c.744G>C (p.Gly248=)
c.741G>C (p.Gly247=)
c.855G>C (p.Gly285=)
c.711G>C (p.Gly237=)
c.930G>C (p.Gly310=)
c.840G>C (p.Gly280=)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.35761230C>TCA514339631RBFOX2c.846G>A (p.Gly282=)
c.726G>A (p.Gly242=)
c.*257G>A (n.*257G>A)
c.*233G>A (n.*233G>A)
c.*176G>A (n.*176G>A)
c.936G>A (p.Gly312=)
c.669G>A (p.Gly223=)
c.663G>A (p.Gly221=)
c.666G>A (p.Gly222=)
c.723G>A (p.Gly241=)
c.281G>A
c.933G>A (p.Gly311=)
c.792G>A (p.Gly264=)
c.789G>A (p.Gly263=)
c.714G>A (p.Gly238=)
c.762G>A (p.Gly254=)
c.696G>A (p.Gly232=)
c.858G>A (p.Gly286=)
c.744G>A (p.Gly248=)
c.741G>A (p.Gly247=)
c.855G>A (p.Gly285=)
c.711G>A (p.Gly237=)
c.930G>A (p.Gly310=)
c.840G>A (p.Gly280=)
22g.35761231C>ACA411358836RBFOX2c.845G>T (p.Gly282Val)
c.725G>T (p.Gly242Val)
c.*256G>T (n.*256G>T)
c.*232G>T (n.*232G>T)
c.*175G>T (n.*175G>T)
c.935G>T (p.Gly312Val)
c.668G>T (p.Gly223Val)
c.662G>T (p.Gly221Val)
c.665G>T (p.Gly222Val)
c.722G>T (p.Gly241Val)
c.280G>T
c.932G>T (p.Gly311Val)
c.791G>T (p.Gly264Val)
c.788G>T (p.Gly263Val)
c.713G>T (p.Gly238Val)
c.761G>T (p.Gly254Val)
c.695G>T (p.Gly232Val)
c.857G>T (p.Gly286Val)
c.743G>T (p.Gly248Val)
c.740G>T (p.Gly247Val)
c.854G>T (p.Gly285Val)
c.710G>T (p.Gly237Val)
c.929G>T (p.Gly310Val)
c.839G>T (p.Gly280Val)
22g.35761231C>GCA411358839RBFOX2c.845G>C (p.Gly282Ala)
c.725G>C (p.Gly242Ala)
c.*256G>C (n.*256G>C)
c.*232G>C (n.*232G>C)
c.*175G>C (n.*175G>C)
c.935G>C (p.Gly312Ala)
c.668G>C (p.Gly223Ala)
c.662G>C (p.Gly221Ala)
c.665G>C (p.Gly222Ala)
c.722G>C (p.Gly241Ala)
c.280G>C
c.932G>C (p.Gly311Ala)
c.791G>C (p.Gly264Ala)
c.788G>C (p.Gly263Ala)
c.713G>C (p.Gly238Ala)
c.761G>C (p.Gly254Ala)
c.695G>C (p.Gly232Ala)
c.857G>C (p.Gly286Ala)
c.743G>C (p.Gly248Ala)
c.740G>C (p.Gly247Ala)
c.854G>C (p.Gly285Ala)
c.710G>C (p.Gly237Ala)
c.929G>C (p.Gly310Ala)
c.839G>C (p.Gly280Ala)
22g.35761231C>TCA411358848RBFOX2c.845G>A (p.Gly282Glu)
c.725G>A (p.Gly242Glu)
c.*256G>A (n.*256G>A)
c.*232G>A (n.*232G>A)
c.*175G>A (n.*175G>A)
c.935G>A (p.Gly312Glu)
c.668G>A (p.Gly223Glu)
c.662G>A (p.Gly221Glu)
c.665G>A (p.Gly222Glu)
c.722G>A (p.Gly241Glu)
c.280G>A
c.932G>A (p.Gly311Glu)
c.791G>A (p.Gly264Glu)
c.788G>A (p.Gly263Glu)
c.713G>A (p.Gly238Glu)
c.761G>A (p.Gly254Glu)
c.695G>A (p.Gly232Glu)
c.857G>A (p.Gly286Glu)
c.743G>A (p.Gly248Glu)
c.740G>A (p.Gly247Glu)
c.854G>A (p.Gly285Glu)
c.710G>A (p.Gly237Glu)
c.929G>A (p.Gly310Glu)
c.839G>A (p.Gly280Glu)
22g.35761232C>ACA411358851RBFOX2c.844G>T (p.Gly282Trp)
c.724G>T (p.Gly242Trp)
c.*255G>T (n.*255G>T)
c.*231G>T (n.*231G>T)
c.*174G>T (n.*174G>T)
c.934G>T (p.Gly312Trp)
c.667G>T (p.Gly223Trp)
c.661G>T (p.Gly221Trp)
c.664G>T (p.Gly222Trp)
c.721G>T (p.Gly241Trp)
c.279G>T
c.931G>T (p.Gly311Trp)
c.790G>T (p.Gly264Trp)
c.787G>T (p.Gly263Trp)
c.712G>T (p.Gly238Trp)
c.760G>T (p.Gly254Trp)
c.694G>T (p.Gly232Trp)
c.856G>T (p.Gly286Trp)
c.742G>T (p.Gly248Trp)
c.739G>T (p.Gly247Trp)
c.853G>T (p.Gly285Trp)
c.709G>T (p.Gly237Trp)
c.928G>T (p.Gly310Trp)
c.838G>T (p.Gly280Trp)
22g.35761232C>GCA411358854RBFOX2c.844G>C (p.Gly282Arg)
c.724G>C (p.Gly242Arg)
c.*255G>C (n.*255G>C)
c.*231G>C (n.*231G>C)
c.*174G>C (n.*174G>C)
c.934G>C (p.Gly312Arg)
c.667G>C (p.Gly223Arg)
c.661G>C (p.Gly221Arg)
c.664G>C (p.Gly222Arg)
c.721G>C (p.Gly241Arg)
c.279G>C
c.931G>C (p.Gly311Arg)
c.790G>C (p.Gly264Arg)
c.787G>C (p.Gly263Arg)
c.712G>C (p.Gly238Arg)
c.760G>C (p.Gly254Arg)
c.694G>C (p.Gly232Arg)
c.856G>C (p.Gly286Arg)
c.742G>C (p.Gly248Arg)
c.739G>C (p.Gly247Arg)
c.853G>C (p.Gly285Arg)
c.709G>C (p.Gly237Arg)
c.928G>C (p.Gly310Arg)
c.838G>C (p.Gly280Arg)
22g.35761232C>TCA411358855RBFOX2c.844G>A (p.Gly282Arg)
c.724G>A (p.Gly242Arg)
c.*255G>A (n.*255G>A)
c.*231G>A (n.*231G>A)
c.*174G>A (n.*174G>A)
c.934G>A (p.Gly312Arg)
c.667G>A (p.Gly223Arg)
c.661G>A (p.Gly221Arg)
c.664G>A (p.Gly222Arg)
c.721G>A (p.Gly241Arg)
c.279G>A
c.931G>A (p.Gly311Arg)
c.790G>A (p.Gly264Arg)
c.787G>A (p.Gly263Arg)
c.712G>A (p.Gly238Arg)
c.760G>A (p.Gly254Arg)
c.694G>A (p.Gly232Arg)
c.856G>A (p.Gly286Arg)
c.742G>A (p.Gly248Arg)
c.739G>A (p.Gly247Arg)
c.853G>A (p.Gly285Arg)
c.709G>A (p.Gly237Arg)
c.928G>A (p.Gly310Arg)
c.838G>A (p.Gly280Arg)
22g.35761233T>ACA411358859RBFOX2c.843A>T (p.Arg281Ser)
c.723A>T (p.Arg241Ser)
c.*254A>T (n.*254A>T)
c.*230A>T (n.*230A>T)
c.*173A>T (n.*173A>T)
c.933A>T (p.Arg311Ser)
c.666A>T (p.Arg222Ser)
c.660A>T (p.Arg220Ser)
c.663A>T (p.Arg221Ser)
c.720A>T (p.Arg240Ser)
c.278A>T
c.930A>T (p.Arg310Ser)
c.789A>T (p.Arg263Ser)
c.786A>T (p.Arg262Ser)
c.711A>T (p.Arg237Ser)
c.759A>T (p.Arg253Ser)
c.693A>T (p.Arg231Ser)
c.855A>T (p.Arg285Ser)
c.741A>T (p.Arg247Ser)
c.738A>T (p.Arg246Ser)
c.852A>T (p.Arg284Ser)
c.708A>T (p.Arg236Ser)
c.927A>T (p.Arg309Ser)
c.837A>T (p.Arg279Ser)
22g.35761233T>CCA10206820RBFOX2c.843A>G (p.Arg281=)
c.723A>G (p.Arg241=)
c.*254A>G (n.*254A>G)
c.*230A>G (n.*230A>G)
c.*173A>G (n.*173A>G)
c.933A>G (p.Arg311=)
c.666A>G (p.Arg222=)
c.660A>G (p.Arg220=)
c.663A>G (p.Arg221=)
c.720A>G (p.Arg240=)
c.278A>G
c.930A>G (p.Arg310=)
c.789A>G (p.Arg263=)
c.786A>G (p.Arg262=)
c.711A>G (p.Arg237=)
c.759A>G (p.Arg253=)
c.693A>G (p.Arg231=)
c.855A>G (p.Arg285=)
c.741A>G (p.Arg247=)
c.738A>G (p.Arg246=)
c.852A>G (p.Arg284=)
c.708A>G (p.Arg236=)
c.927A>G (p.Arg309=)
c.837A>G (p.Arg279=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.35761233T>GCA411358863RBFOX2c.843A>C (p.Arg281Ser)
c.723A>C (p.Arg241Ser)
c.*254A>C (n.*254A>C)
c.*230A>C (n.*230A>C)
c.*173A>C (n.*173A>C)
c.933A>C (p.Arg311Ser)
c.666A>C (p.Arg222Ser)
c.660A>C (p.Arg220Ser)
c.663A>C (p.Arg221Ser)
c.720A>C (p.Arg240Ser)
c.278A>C
c.930A>C (p.Arg310Ser)
c.789A>C (p.Arg263Ser)
c.786A>C (p.Arg262Ser)
c.711A>C (p.Arg237Ser)
c.759A>C (p.Arg253Ser)
c.693A>C (p.Arg231Ser)
c.855A>C (p.Arg285Ser)
c.741A>C (p.Arg247Ser)
c.738A>C (p.Arg246Ser)
c.852A>C (p.Arg284Ser)
c.708A>C (p.Arg236Ser)
c.927A>C (p.Arg309Ser)
c.837A>C (p.Arg279Ser)
22g.35761233T=CA2403556514RBFOX2c.843A= (p.Arg281=)
c.723A= (p.Arg241=)
c.*254A= (n.*254A=)
c.*230A= (n.*230A=)
c.*173A= (n.*173A=)
c.933A= (p.Arg311=)
c.666A= (p.Arg222=)
c.660A= (p.Arg220=)
c.663A= (p.Arg221=)
c.720A= (p.Arg240=)
c.278A=
c.930A= (p.Arg310=)
c.789A= (p.Arg263=)
c.786A= (p.Arg262=)
c.711A= (p.Arg237=)
c.759A= (p.Arg253=)
c.693A= (p.Arg231=)
c.855A= (p.Arg285=)
c.741A= (p.Arg247=)
c.738A= (p.Arg246=)
c.852A= (p.Arg284=)
c.708A= (p.Arg236=)
c.927A= (p.Arg309=)
c.837A= (p.Arg279=)
22g.35761234C>ACA411358869RBFOX2c.842G>T (p.Arg281Ile)
c.722G>T (p.Arg241Ile)
c.*253G>T (n.*253G>T)
c.*229G>T (n.*229G>T)
c.*172G>T (n.*172G>T)
c.932G>T (p.Arg311Ile)
c.665G>T (p.Arg222Ile)
c.659G>T (p.Arg220Ile)
c.662G>T (p.Arg221Ile)
c.719G>T (p.Arg240Ile)
c.277G>T
c.929G>T (p.Arg310Ile)
c.788G>T (p.Arg263Ile)
c.785G>T (p.Arg262Ile)
c.710G>T (p.Arg237Ile)
c.758G>T (p.Arg253Ile)
c.692G>T (p.Arg231Ile)
c.854G>T (p.Arg285Ile)
c.740G>T (p.Arg247Ile)
c.737G>T (p.Arg246Ile)
c.851G>T (p.Arg284Ile)
c.707G>T (p.Arg236Ile)
c.926G>T (p.Arg309Ile)
c.836G>T (p.Arg279Ile)
22g.35761234C>GCA411358872RBFOX2c.842G>C (p.Arg281Thr)
c.722G>C (p.Arg241Thr)
c.*253G>C (n.*253G>C)
c.*229G>C (n.*229G>C)
c.*172G>C (n.*172G>C)
c.932G>C (p.Arg311Thr)
c.665G>C (p.Arg222Thr)
c.659G>C (p.Arg220Thr)
c.662G>C (p.Arg221Thr)
c.719G>C (p.Arg240Thr)
c.277G>C
c.929G>C (p.Arg310Thr)
c.788G>C (p.Arg263Thr)
c.785G>C (p.Arg262Thr)
c.710G>C (p.Arg237Thr)
c.758G>C (p.Arg253Thr)
c.692G>C (p.Arg231Thr)
c.854G>C (p.Arg285Thr)
c.740G>C (p.Arg247Thr)
c.737G>C (p.Arg246Thr)
c.851G>C (p.Arg284Thr)
c.707G>C (p.Arg236Thr)
c.926G>C (p.Arg309Thr)
c.836G>C (p.Arg279Thr)
22g.35761234C>TCA411358875RBFOX2c.842G>A (p.Arg281Lys)
c.722G>A (p.Arg241Lys)
c.*253G>A (n.*253G>A)
c.*229G>A (n.*229G>A)
c.*172G>A (n.*172G>A)
c.932G>A (p.Arg311Lys)
c.665G>A (p.Arg222Lys)
c.659G>A (p.Arg220Lys)
c.662G>A (p.Arg221Lys)
c.719G>A (p.Arg240Lys)
c.277G>A
c.929G>A (p.Arg310Lys)
c.788G>A (p.Arg263Lys)
c.785G>A (p.Arg262Lys)
c.710G>A (p.Arg237Lys)
c.758G>A (p.Arg253Lys)
c.692G>A (p.Arg231Lys)
c.854G>A (p.Arg285Lys)
c.740G>A (p.Arg247Lys)
c.737G>A (p.Arg246Lys)
c.851G>A (p.Arg284Lys)
c.707G>A (p.Arg236Lys)
c.926G>A (p.Arg309Lys)
c.836G>A (p.Arg279Lys)
22g.35761235T>ACA411358878RBFOX2c.841A>T (p.Arg281Ter)
c.721A>T (p.Arg241Ter)
c.*252A>T (n.*252A>T)
c.*228A>T (n.*228A>T)
c.*171A>T (n.*171A>T)
c.931A>T (p.Arg311Ter)
c.664A>T (p.Arg222Ter)
c.658A>T (p.Arg220Ter)
c.661A>T (p.Arg221Ter)
c.718A>T (p.Arg240Ter)
c.276A>T
c.928A>T (p.Arg310Ter)
c.787A>T (p.Arg263Ter)
c.784A>T (p.Arg262Ter)
c.709A>T (p.Arg237Ter)
c.757A>T (p.Arg253Ter)
c.691A>T (p.Arg231Ter)
c.853A>T (p.Arg285Ter)
c.739A>T (p.Arg247Ter)
c.736A>T (p.Arg246Ter)
c.850A>T (p.Arg284Ter)
c.706A>T (p.Arg236Ter)
c.925A>T (p.Arg309Ter)
c.835A>T (p.Arg279Ter)
22g.35761235T>CCA411358880RBFOX2c.841A>G (p.Arg281Gly)
c.721A>G (p.Arg241Gly)
c.*252A>G (n.*252A>G)
c.*228A>G (n.*228A>G)
c.*171A>G (n.*171A>G)
c.931A>G (p.Arg311Gly)
c.664A>G (p.Arg222Gly)
c.658A>G (p.Arg220Gly)
c.661A>G (p.Arg221Gly)
c.718A>G (p.Arg240Gly)
c.276A>G
c.928A>G (p.Arg310Gly)
c.787A>G (p.Arg263Gly)
c.784A>G (p.Arg262Gly)
c.709A>G (p.Arg237Gly)
c.757A>G (p.Arg253Gly)
c.691A>G (p.Arg231Gly)
c.853A>G (p.Arg285Gly)
c.739A>G (p.Arg247Gly)
c.736A>G (p.Arg246Gly)
c.850A>G (p.Arg284Gly)
c.706A>G (p.Arg236Gly)
c.925A>G (p.Arg309Gly)
c.835A>G (p.Arg279Gly)
22g.35761235T>GCA514339632RBFOX2c.841A>C (p.Arg281=)
c.721A>C (p.Arg241=)
c.*252A>C (n.*252A>C)
c.*228A>C (n.*228A>C)
c.*171A>C (n.*171A>C)
c.931A>C (p.Arg311=)
c.664A>C (p.Arg222=)
c.658A>C (p.Arg220=)
c.661A>C (p.Arg221=)
c.718A>C (p.Arg240=)
c.276A>C
c.928A>C (p.Arg310=)
c.787A>C (p.Arg263=)
c.784A>C (p.Arg262=)
c.709A>C (p.Arg237=)
c.757A>C (p.Arg253=)
c.691A>C (p.Arg231=)
c.853A>C (p.Arg285=)
c.739A>C (p.Arg247=)
c.736A>C (p.Arg246=)
c.850A>C (p.Arg284=)
c.706A>C (p.Arg236=)
c.925A>C (p.Arg309=)
c.835A>C (p.Arg279=)
22g.35761236T>ACA514339633RBFOX2c.840A>T (p.Gly280=)
c.720A>T (p.Gly240=)
c.*251A>T (n.*251A>T)
c.*227A>T (n.*227A>T)
c.*170A>T (n.*170A>T)
c.930A>T (p.Gly310=)
c.663A>T (p.Gly221=)
c.657A>T (p.Gly219=)
c.660A>T (p.Gly220=)
c.717A>T (p.Gly239=)
c.275A>T
c.927A>T (p.Gly309=)
c.786A>T (p.Gly262=)
c.783A>T (p.Gly261=)
c.708A>T (p.Gly236=)
c.756A>T (p.Gly252=)
c.690A>T (p.Gly230=)
c.852A>T (p.Gly284=)
c.738A>T (p.Gly246=)
c.735A>T (p.Gly245=)
c.849A>T (p.Gly283=)
c.705A>T (p.Gly235=)
c.924A>T (p.Gly308=)
c.834A>T (p.Gly278=)
22g.35761236T>CCA514339634RBFOX2c.840A>G (p.Gly280=)
c.720A>G (p.Gly240=)
c.*251A>G (n.*251A>G)
c.*227A>G (n.*227A>G)
c.*170A>G (n.*170A>G)
c.930A>G (p.Gly310=)
c.663A>G (p.Gly221=)
c.657A>G (p.Gly219=)
c.660A>G (p.Gly220=)
c.717A>G (p.Gly239=)
c.275A>G
c.927A>G (p.Gly309=)
c.786A>G (p.Gly262=)
c.783A>G (p.Gly261=)
c.708A>G (p.Gly236=)
c.756A>G (p.Gly252=)
c.690A>G (p.Gly230=)
c.852A>G (p.Gly284=)
c.738A>G (p.Gly246=)
c.735A>G (p.Gly245=)
c.849A>G (p.Gly283=)
c.705A>G (p.Gly235=)
c.924A>G (p.Gly308=)
c.834A>G (p.Gly278=)
22g.35761236T>GCA514339635RBFOX2c.840A>C (p.Gly280=)
c.720A>C (p.Gly240=)
c.*251A>C (n.*251A>C)
c.*227A>C (n.*227A>C)
c.*170A>C (n.*170A>C)
c.930A>C (p.Gly310=)
c.663A>C (p.Gly221=)
c.657A>C (p.Gly219=)
c.660A>C (p.Gly220=)
c.717A>C (p.Gly239=)
c.275A>C
c.927A>C (p.Gly309=)
c.786A>C (p.Gly262=)
c.783A>C (p.Gly261=)
c.708A>C (p.Gly236=)
c.756A>C (p.Gly252=)
c.690A>C (p.Gly230=)
c.852A>C (p.Gly284=)
c.738A>C (p.Gly246=)
c.735A>C (p.Gly245=)
c.849A>C (p.Gly283=)
c.705A>C (p.Gly235=)
c.924A>C (p.Gly308=)
c.834A>C (p.Gly278=)
22g.35761237C>ACA411358890RBFOX2c.839G>T (p.Gly280Val)
c.719G>T (p.Gly240Val)
c.*250G>T (n.*250G>T)
c.*226G>T (n.*226G>T)
c.*169G>T (n.*169G>T)
c.929G>T (p.Gly310Val)
c.662G>T (p.Gly221Val)
c.656G>T (p.Gly219Val)
c.659G>T (p.Gly220Val)
c.716G>T (p.Gly239Val)
c.274G>T
c.926G>T (p.Gly309Val)
c.785G>T (p.Gly262Val)
c.782G>T (p.Gly261Val)
c.707G>T (p.Gly236Val)
c.755G>T (p.Gly252Val)
c.689G>T (p.Gly230Val)
c.851G>T (p.Gly284Val)
c.737G>T (p.Gly246Val)
c.734G>T (p.Gly245Val)
c.848G>T (p.Gly283Val)
c.704G>T (p.Gly235Val)
c.923G>T (p.Gly308Val)
c.833G>T (p.Gly278Val)
22g.35761237C>GCA411358888RBFOX2c.839G>C (p.Gly280Ala)
c.719G>C (p.Gly240Ala)
c.*250G>C (n.*250G>C)
c.*226G>C (n.*226G>C)
c.*169G>C (n.*169G>C)
c.929G>C (p.Gly310Ala)
c.662G>C (p.Gly221Ala)
c.656G>C (p.Gly219Ala)
c.659G>C (p.Gly220Ala)
c.716G>C (p.Gly239Ala)
c.274G>C
c.926G>C (p.Gly309Ala)
c.785G>C (p.Gly262Ala)
c.782G>C (p.Gly261Ala)
c.707G>C (p.Gly236Ala)
c.755G>C (p.Gly252Ala)
c.689G>C (p.Gly230Ala)
c.851G>C (p.Gly284Ala)
c.737G>C (p.Gly246Ala)
c.734G>C (p.Gly245Ala)
c.848G>C (p.Gly283Ala)
c.704G>C (p.Gly235Ala)
c.923G>C (p.Gly308Ala)
c.833G>C (p.Gly278Ala)
22g.35761237C>TCA411358885RBFOX2c.839G>A (p.Gly280Glu)
c.719G>A (p.Gly240Glu)
c.*250G>A (n.*250G>A)
c.*226G>A (n.*226G>A)
c.*169G>A (n.*169G>A)
c.929G>A (p.Gly310Glu)
c.662G>A (p.Gly221Glu)
c.656G>A (p.Gly219Glu)
c.659G>A (p.Gly220Glu)
c.716G>A (p.Gly239Glu)
c.274G>A
c.926G>A (p.Gly309Glu)
c.785G>A (p.Gly262Glu)
c.782G>A (p.Gly261Glu)
c.707G>A (p.Gly236Glu)
c.755G>A (p.Gly252Glu)
c.689G>A (p.Gly230Glu)
c.851G>A (p.Gly284Glu)
c.737G>A (p.Gly246Glu)
c.734G>A (p.Gly245Glu)
c.848G>A (p.Gly283Glu)
c.704G>A (p.Gly235Glu)
c.923G>A (p.Gly308Glu)
c.833G>A (p.Gly278Glu)
22g.35761238C>ACA411358893RBFOX2c.838G>T (p.Gly280Ter)
c.718G>T (p.Gly240Ter)
c.*249G>T (n.*249G>T)
c.*225G>T (n.*225G>T)
c.*168G>T (n.*168G>T)
c.928G>T (p.Gly310Ter)
c.661G>T (p.Gly221Ter)
c.655G>T (p.Gly219Ter)
c.658G>T (p.Gly220Ter)
c.715G>T (p.Gly239Ter)
c.273G>T
c.925G>T (p.Gly309Ter)
c.784G>T (p.Gly262Ter)
c.781G>T (p.Gly261Ter)
c.706G>T (p.Gly236Ter)
c.754G>T (p.Gly252Ter)
c.688G>T (p.Gly230Ter)
c.850G>T (p.Gly284Ter)
c.736G>T (p.Gly246Ter)
c.733G>T (p.Gly245Ter)
c.847G>T (p.Gly283Ter)
c.703G>T (p.Gly235Ter)
c.922G>T (p.Gly308Ter)
c.832G>T (p.Gly278Ter)
22g.35761238C>GCA411358895RBFOX2c.838G>C (p.Gly280Arg)
c.718G>C (p.Gly240Arg)
c.*249G>C (n.*249G>C)
c.*225G>C (n.*225G>C)
c.*168G>C (n.*168G>C)
c.928G>C (p.Gly310Arg)
c.661G>C (p.Gly221Arg)
c.655G>C (p.Gly219Arg)
c.658G>C (p.Gly220Arg)
c.715G>C (p.Gly239Arg)
c.273G>C
c.925G>C (p.Gly309Arg)
c.784G>C (p.Gly262Arg)
c.781G>C (p.Gly261Arg)
c.706G>C (p.Gly236Arg)
c.754G>C (p.Gly252Arg)
c.688G>C (p.Gly230Arg)
c.850G>C (p.Gly284Arg)
c.736G>C (p.Gly246Arg)
c.733G>C (p.Gly245Arg)
c.847G>C (p.Gly283Arg)
c.703G>C (p.Gly235Arg)
c.922G>C (p.Gly308Arg)
c.832G>C (p.Gly278Arg)
22g.35761238C>TCA411358900RBFOX2c.838G>A (p.Gly280Arg)
c.718G>A (p.Gly240Arg)
c.*249G>A (n.*249G>A)
c.*225G>A (n.*225G>A)
c.*168G>A (n.*168G>A)
c.928G>A (p.Gly310Arg)
c.661G>A (p.Gly221Arg)
c.655G>A (p.Gly219Arg)
c.658G>A (p.Gly220Arg)
c.715G>A (p.Gly239Arg)
c.273G>A
c.925G>A (p.Gly309Arg)
c.784G>A (p.Gly262Arg)
c.781G>A (p.Gly261Arg)
c.706G>A (p.Gly236Arg)
c.754G>A (p.Gly252Arg)
c.688G>A (p.Gly230Arg)
c.850G>A (p.Gly284Arg)
c.736G>A (p.Gly246Arg)
c.733G>A (p.Gly245Arg)
c.847G>A (p.Gly283Arg)
c.703G>A (p.Gly235Arg)
c.922G>A (p.Gly308Arg)
c.832G>A (p.Gly278Arg)
22g.35761239T>ACA514339636RBFOX2c.837A>T (p.Ser279=)
c.717A>T (p.Ser239=)
c.*248A>T (n.*248A>T)
c.*224A>T (n.*224A>T)
c.*167A>T (n.*167A>T)
c.927A>T (p.Ser309=)
c.660A>T (p.Ser220=)
c.654A>T (p.Ser218=)
c.657A>T (p.Ser219=)
c.714A>T (p.Ser238=)
c.272A>T
c.924A>T (p.Ser308=)
c.783A>T (p.Ser261=)
c.780A>T (p.Ser260=)
c.705A>T (p.Ser235=)
c.753A>T (p.Ser251=)
c.687A>T (p.Ser229=)
c.849A>T (p.Ser283=)
c.735A>T (p.Ser245=)
c.732A>T (p.Ser244=)
c.846A>T (p.Ser282=)
c.702A>T (p.Ser234=)
c.921A>T (p.Ser307=)
c.831A>T (p.Ser277=)
22g.35761239T>CCA514339637RBFOX2c.837A>G (p.Ser279=)
c.717A>G (p.Ser239=)
c.*248A>G (n.*248A>G)
c.*224A>G (n.*224A>G)
c.*167A>G (n.*167A>G)
c.927A>G (p.Ser309=)
c.660A>G (p.Ser220=)
c.654A>G (p.Ser218=)
c.657A>G (p.Ser219=)
c.714A>G (p.Ser238=)
c.272A>G
c.924A>G (p.Ser308=)
c.783A>G (p.Ser261=)
c.780A>G (p.Ser260=)
c.705A>G (p.Ser235=)
c.753A>G (p.Ser251=)
c.687A>G (p.Ser229=)
c.849A>G (p.Ser283=)
c.735A>G (p.Ser245=)
c.732A>G (p.Ser244=)
c.846A>G (p.Ser282=)
c.702A>G (p.Ser234=)
c.921A>G (p.Ser307=)
c.831A>G (p.Ser277=)
22g.35761239T>GCA514339638RBFOX2c.837A>C (p.Ser279=)
c.717A>C (p.Ser239=)
c.*248A>C (n.*248A>C)
c.*224A>C (n.*224A>C)
c.*167A>C (n.*167A>C)
c.927A>C (p.Ser309=)
c.660A>C (p.Ser220=)
c.654A>C (p.Ser218=)
c.657A>C (p.Ser219=)
c.714A>C (p.Ser238=)
c.272A>C
c.924A>C (p.Ser308=)
c.783A>C (p.Ser261=)
c.780A>C (p.Ser260=)
c.705A>C (p.Ser235=)
c.753A>C (p.Ser251=)
c.687A>C (p.Ser229=)
c.849A>C (p.Ser283=)
c.735A>C (p.Ser245=)
c.732A>C (p.Ser244=)
c.846A>C (p.Ser282=)
c.702A>C (p.Ser234=)
c.921A>C (p.Ser307=)
c.831A>C (p.Ser277=)
22g.35761240G>ACA411358906RBFOX2c.836C>T (p.Ser279Leu)
c.716C>T (p.Ser239Leu)
c.*247C>T (n.*247C>T)
c.*223C>T (n.*223C>T)
c.*166C>T (n.*166C>T)
c.926C>T (p.Ser309Leu)
c.659C>T (p.Ser220Leu)
c.653C>T (p.Ser218Leu)
c.656C>T (p.Ser219Leu)
c.713C>T (p.Ser238Leu)
c.271C>T
c.923C>T (p.Ser308Leu)
c.782C>T (p.Ser261Leu)
c.779C>T (p.Ser260Leu)
c.704C>T (p.Ser235Leu)
c.752C>T (p.Ser251Leu)
c.686C>T (p.Ser229Leu)
c.848C>T (p.Ser283Leu)
c.734C>T (p.Ser245Leu)
c.731C>T (p.Ser244Leu)
c.845C>T (p.Ser282Leu)
c.701C>T (p.Ser234Leu)
c.920C>T (p.Ser307Leu)
c.830C>T (p.Ser277Leu)
22g.35761240G>CCA411358915RBFOX2c.836C>G (p.Ser279Ter)
c.716C>G (p.Ser239Ter)
c.*247C>G (n.*247C>G)
c.*223C>G (n.*223C>G)
c.*166C>G (n.*166C>G)
c.926C>G (p.Ser309Ter)
c.659C>G (p.Ser220Ter)
c.653C>G (p.Ser218Ter)
c.656C>G (p.Ser219Ter)
c.713C>G (p.Ser238Ter)
c.271C>G
c.923C>G (p.Ser308Ter)
c.782C>G (p.Ser261Ter)
c.779C>G (p.Ser260Ter)
c.704C>G (p.Ser235Ter)
c.752C>G (p.Ser251Ter)
c.686C>G (p.Ser229Ter)
c.848C>G (p.Ser283Ter)
c.734C>G (p.Ser245Ter)
c.731C>G (p.Ser244Ter)
c.845C>G (p.Ser282Ter)
c.701C>G (p.Ser234Ter)
c.920C>G (p.Ser307Ter)
c.830C>G (p.Ser277Ter)
22g.35761240G>TCA411358917RBFOX2c.836C>A (p.Ser279Ter)
c.716C>A (p.Ser239Ter)
c.*247C>A (n.*247C>A)
c.*223C>A (n.*223C>A)
c.*166C>A (n.*166C>A)
c.926C>A (p.Ser309Ter)
c.659C>A (p.Ser220Ter)
c.653C>A (p.Ser218Ter)
c.656C>A (p.Ser219Ter)
c.713C>A (p.Ser238Ter)
c.271C>A
c.923C>A (p.Ser308Ter)
c.782C>A (p.Ser261Ter)
c.779C>A (p.Ser260Ter)
c.704C>A (p.Ser235Ter)
c.752C>A (p.Ser251Ter)
c.686C>A (p.Ser229Ter)
c.848C>A (p.Ser283Ter)
c.734C>A (p.Ser245Ter)
c.731C>A (p.Ser244Ter)
c.845C>A (p.Ser282Ter)
c.701C>A (p.Ser234Ter)
c.920C>A (p.Ser307Ter)
c.830C>A (p.Ser277Ter)
22g.35761241A>CCA411358921RBFOX2c.835T>G (p.Ser279Ala)
c.715T>G (p.Ser239Ala)
c.*246T>G (n.*246T>G)
c.*222T>G (n.*222T>G)
c.*165T>G (n.*165T>G)
c.925T>G (p.Ser309Ala)
c.658T>G (p.Ser220Ala)
c.652T>G (p.Ser218Ala)
c.655T>G (p.Ser219Ala)
c.712T>G (p.Ser238Ala)
c.270T>G
c.922T>G (p.Ser308Ala)
c.781T>G (p.Ser261Ala)
c.778T>G (p.Ser260Ala)
c.703T>G (p.Ser235Ala)
c.751T>G (p.Ser251Ala)
c.685T>G (p.Ser229Ala)
c.847T>G (p.Ser283Ala)
c.733T>G (p.Ser245Ala)
c.730T>G (p.Ser244Ala)
c.844T>G (p.Ser282Ala)
c.700T>G (p.Ser234Ala)
c.919T>G (p.Ser307Ala)
c.829T>G (p.Ser277Ala)
22g.35761241A>GCA411358925RBFOX2c.835T>C (p.Ser279Pro)
c.715T>C (p.Ser239Pro)
c.*246T>C (n.*246T>C)
c.*222T>C (n.*222T>C)
c.*165T>C (n.*165T>C)
c.925T>C (p.Ser309Pro)
c.658T>C (p.Ser220Pro)
c.652T>C (p.Ser218Pro)
c.655T>C (p.Ser219Pro)
c.712T>C (p.Ser238Pro)
c.270T>C
c.922T>C (p.Ser308Pro)
c.781T>C (p.Ser261Pro)
c.778T>C (p.Ser260Pro)
c.703T>C (p.Ser235Pro)
c.751T>C (p.Ser251Pro)
c.685T>C (p.Ser229Pro)
c.847T>C (p.Ser283Pro)
c.733T>C (p.Ser245Pro)
c.730T>C (p.Ser244Pro)
c.844T>C (p.Ser282Pro)
c.700T>C (p.Ser234Pro)
c.919T>C (p.Ser307Pro)
c.829T>C (p.Ser277Pro)
22g.35761241A>TCA411358923RBFOX2c.835T>A (p.Ser279Thr)
c.715T>A (p.Ser239Thr)
c.*246T>A (n.*246T>A)
c.*222T>A (n.*222T>A)
c.*165T>A (n.*165T>A)
c.925T>A (p.Ser309Thr)
c.658T>A (p.Ser220Thr)
c.652T>A (p.Ser218Thr)
c.655T>A (p.Ser219Thr)
c.712T>A (p.Ser238Thr)
c.270T>A
c.922T>A (p.Ser308Thr)
c.781T>A (p.Ser261Thr)
c.778T>A (p.Ser260Thr)
c.703T>A (p.Ser235Thr)
c.751T>A (p.Ser251Thr)
c.685T>A (p.Ser229Thr)
c.847T>A (p.Ser283Thr)
c.733T>A (p.Ser245Thr)
c.730T>A (p.Ser244Thr)
c.844T>A (p.Ser282Thr)
c.700T>A (p.Ser234Thr)
c.919T>A (p.Ser307Thr)
c.829T>A (p.Ser277Thr)
22g.35761242T>ACA514339639RBFOX2c.834A>T (p.Leu278=)
c.714A>T (p.Leu238=)
c.*245A>T (n.*245A>T)
c.*221A>T (n.*221A>T)
c.*164A>T (n.*164A>T)
c.924A>T (p.Leu308=)
c.657A>T (p.Leu219=)
c.651A>T (p.Leu217=)
c.654A>T (p.Leu218=)
c.711A>T (p.Leu237=)
c.269A>T
c.921A>T (p.Leu307=)
c.780A>T (p.Leu260=)
c.777A>T (p.Leu259=)
c.702A>T (p.Leu234=)
c.750A>T (p.Leu250=)
c.684A>T (p.Leu228=)
c.846A>T (p.Leu282=)
c.732A>T (p.Leu244=)
c.729A>T (p.Leu243=)
c.843A>T (p.Leu281=)
c.699A>T (p.Leu233=)
c.918A>T (p.Leu306=)
c.828A>T (p.Leu276=)
22g.35761242T>CCA10206821RBFOX2c.834A>G (p.Leu278=)
c.714A>G (p.Leu238=)
c.*245A>G (n.*245A>G)
c.*221A>G (n.*221A>G)
c.*164A>G (n.*164A>G)
c.924A>G (p.Leu308=)
c.657A>G (p.Leu219=)
c.651A>G (p.Leu217=)
c.654A>G (p.Leu218=)
c.711A>G (p.Leu237=)
c.269A>G
c.921A>G (p.Leu307=)
c.780A>G (p.Leu260=)
c.777A>G (p.Leu259=)
c.702A>G (p.Leu234=)
c.750A>G (p.Leu250=)
c.684A>G (p.Leu228=)
c.846A>G (p.Leu282=)
c.732A>G (p.Leu244=)
c.729A>G (p.Leu243=)
c.843A>G (p.Leu281=)
c.699A>G (p.Leu233=)
c.918A>G (p.Leu306=)
c.828A>G (p.Leu276=)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.35761242T>GCA514339640RBFOX2c.834A>C (p.Leu278=)
c.714A>C (p.Leu238=)
c.*245A>C (n.*245A>C)
c.*221A>C (n.*221A>C)
c.*164A>C (n.*164A>C)
c.924A>C (p.Leu308=)
c.657A>C (p.Leu219=)
c.651A>C (p.Leu217=)
c.654A>C (p.Leu218=)
c.711A>C (p.Leu237=)
c.269A>C
c.921A>C (p.Leu307=)
c.780A>C (p.Leu260=)
c.777A>C (p.Leu259=)
c.702A>C (p.Leu234=)
c.750A>C (p.Leu250=)
c.684A>C (p.Leu228=)
c.846A>C (p.Leu282=)
c.732A>C (p.Leu244=)
c.729A>C (p.Leu243=)
c.843A>C (p.Leu281=)
c.699A>C (p.Leu233=)
c.918A>C (p.Leu306=)
c.828A>C (p.Leu276=)
22g.35761242T=CA2403556515RBFOX2c.834A= (p.Leu278=)
c.714A= (p.Leu238=)
c.*245A= (n.*245A=)
c.*221A= (n.*221A=)
c.*164A= (n.*164A=)
c.924A= (p.Leu308=)
c.657A= (p.Leu219=)
c.651A= (p.Leu217=)
c.654A= (p.Leu218=)
c.711A= (p.Leu237=)
c.269A=
c.921A= (p.Leu307=)
c.780A= (p.Leu260=)
c.777A= (p.Leu259=)
c.702A= (p.Leu234=)
c.750A= (p.Leu250=)
c.684A= (p.Leu228=)
c.846A= (p.Leu282=)
c.732A= (p.Leu244=)
c.729A= (p.Leu243=)
c.843A= (p.Leu281=)
c.699A= (p.Leu233=)
c.918A= (p.Leu306=)
c.828A= (p.Leu276=)
22g.35761243A>CCA411358933RBFOX2c.833T>G (p.Leu278Arg)
c.713T>G (p.Leu238Arg)
c.*244T>G (n.*244T>G)
c.*220T>G (n.*220T>G)
c.*163T>G (n.*163T>G)
c.923T>G (p.Leu308Arg)
c.656T>G (p.Leu219Arg)
c.650T>G (p.Leu217Arg)
c.653T>G (p.Leu218Arg)
c.710T>G (p.Leu237Arg)
c.268T>G
c.920T>G (p.Leu307Arg)
c.779T>G (p.Leu260Arg)
c.776T>G (p.Leu259Arg)
c.701T>G (p.Leu234Arg)
c.749T>G (p.Leu250Arg)
c.683T>G (p.Leu228Arg)
c.845T>G (p.Leu282Arg)
c.731T>G (p.Leu244Arg)
c.728T>G (p.Leu243Arg)
c.842T>G (p.Leu281Arg)
c.698T>G (p.Leu233Arg)
c.917T>G (p.Leu306Arg)
c.827T>G (p.Leu276Arg)
22g.35761243A>GCA411358936RBFOX2c.833T>C (p.Leu278Pro)
c.713T>C (p.Leu238Pro)
c.*244T>C (n.*244T>C)
c.*220T>C (n.*220T>C)
c.*163T>C (n.*163T>C)
c.923T>C (p.Leu308Pro)
c.656T>C (p.Leu219Pro)
c.650T>C (p.Leu217Pro)
c.653T>C (p.Leu218Pro)
c.710T>C (p.Leu237Pro)
c.268T>C
c.920T>C (p.Leu307Pro)
c.779T>C (p.Leu260Pro)
c.776T>C (p.Leu259Pro)
c.701T>C (p.Leu234Pro)
c.749T>C (p.Leu250Pro)
c.683T>C (p.Leu228Pro)
c.845T>C (p.Leu282Pro)
c.731T>C (p.Leu244Pro)
c.728T>C (p.Leu243Pro)
c.842T>C (p.Leu281Pro)
c.698T>C (p.Leu233Pro)
c.917T>C (p.Leu306Pro)
c.827T>C (p.Leu276Pro)
22g.35761243A>TCA411358938RBFOX2c.833T>A (p.Leu278Gln)
c.713T>A (p.Leu238Gln)
c.*244T>A (n.*244T>A)
c.*220T>A (n.*220T>A)
c.*163T>A (n.*163T>A)
c.923T>A (p.Leu308Gln)
c.656T>A (p.Leu219Gln)
c.650T>A (p.Leu217Gln)
c.653T>A (p.Leu218Gln)
c.710T>A (p.Leu237Gln)
c.268T>A
c.920T>A (p.Leu307Gln)
c.779T>A (p.Leu260Gln)
c.776T>A (p.Leu259Gln)
c.701T>A (p.Leu234Gln)
c.749T>A (p.Leu250Gln)
c.683T>A (p.Leu228Gln)
c.845T>A (p.Leu282Gln)
c.731T>A (p.Leu244Gln)
c.728T>A (p.Leu243Gln)
c.842T>A (p.Leu281Gln)
c.698T>A (p.Leu233Gln)
c.917T>A (p.Leu306Gln)
c.827T>A (p.Leu276Gln)
22g.35761244G>ACA10206822RBFOX2c.832C>T (p.Leu278=)
c.712C>T (p.Leu238=)
c.*243C>T (n.*243C>T)
c.*219C>T (n.*219C>T)
c.*162C>T (n.*162C>T)
c.922C>T (p.Leu308=)
c.655C>T (p.Leu219=)
c.649C>T (p.Leu217=)
c.652C>T (p.Leu218=)
c.709C>T (p.Leu237=)
c.267C>T
c.919C>T (p.Leu307=)
c.778C>T (p.Leu260=)
c.775C>T (p.Leu259=)
c.700C>T (p.Leu234=)
c.748C>T (p.Leu250=)
c.682C>T (p.Leu228=)
c.844C>T (p.Leu282=)
c.730C>T (p.Leu244=)
c.727C>T (p.Leu243=)
c.841C>T (p.Leu281=)
c.697C>T (p.Leu233=)
c.916C>T (p.Leu306=)
c.826C>T (p.Leu276=)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.35761244G>CCA411358944RBFOX2c.832C>G (p.Leu278Val)
c.712C>G (p.Leu238Val)
c.*243C>G (n.*243C>G)
c.*219C>G (n.*219C>G)
c.*162C>G (n.*162C>G)
c.922C>G (p.Leu308Val)
c.655C>G (p.Leu219Val)
c.649C>G (p.Leu217Val)
c.652C>G (p.Leu218Val)
c.709C>G (p.Leu237Val)
c.267C>G
c.919C>G (p.Leu307Val)
c.778C>G (p.Leu260Val)
c.775C>G (p.Leu259Val)
c.700C>G (p.Leu234Val)
c.748C>G (p.Leu250Val)
c.682C>G (p.Leu228Val)
c.844C>G (p.Leu282Val)
c.730C>G (p.Leu244Val)
c.727C>G (p.Leu243Val)
c.841C>G (p.Leu281Val)
c.697C>G (p.Leu233Val)
c.916C>G (p.Leu306Val)
c.826C>G (p.Leu276Val)
22g.35761244G=CA2403556516RBFOX2c.832C= (p.Leu278=)
c.712C= (p.Leu238=)
c.*243C= (n.*243C=)
c.*219C= (n.*219C=)
c.*162C= (n.*162C=)
c.922C= (p.Leu308=)
c.655C= (p.Leu219=)
c.649C= (p.Leu217=)
c.652C= (p.Leu218=)
c.709C= (p.Leu237=)
c.267C=
c.919C= (p.Leu307=)
c.778C= (p.Leu260=)
c.775C= (p.Leu259=)
c.700C= (p.Leu234=)
c.748C= (p.Leu250=)
c.682C= (p.Leu228=)
c.844C= (p.Leu282=)
c.730C= (p.Leu244=)
c.727C= (p.Leu243=)
c.841C= (p.Leu281=)
c.697C= (p.Leu233=)
c.916C= (p.Leu306=)
c.826C= (p.Leu276=)
22g.35761244G>TCA411358949RBFOX2c.832C>A (p.Leu278Ile)
c.712C>A (p.Leu238Ile)
c.*243C>A (n.*243C>A)
c.*219C>A (n.*219C>A)
c.*162C>A (n.*162C>A)
c.922C>A (p.Leu308Ile)
c.655C>A (p.Leu219Ile)
c.649C>A (p.Leu217Ile)
c.652C>A (p.Leu218Ile)
c.709C>A (p.Leu237Ile)
c.267C>A
c.919C>A (p.Leu307Ile)
c.778C>A (p.Leu260Ile)
c.775C>A (p.Leu259Ile)
c.700C>A (p.Leu234Ile)
c.748C>A (p.Leu250Ile)
c.682C>A (p.Leu228Ile)
c.844C>A (p.Leu282Ile)
c.730C>A (p.Leu244Ile)
c.727C>A (p.Leu243Ile)
c.841C>A (p.Leu281Ile)
c.697C>A (p.Leu233Ile)
c.916C>A (p.Leu306Ile)
c.826C>A (p.Leu276Ile)
COSMIC
22g.35761245G>ACA514339643RBFOX2c.831C>T (p.Pro277=)
c.711C>T (p.Pro237=)
c.*242C>T (n.*242C>T)
c.*218C>T (n.*218C>T)
c.*161C>T (n.*161C>T)
c.921C>T (p.Pro307=)
c.654C>T (p.Pro218=)
c.648C>T (p.Pro216=)
c.651C>T (p.Pro217=)
c.708C>T (p.Pro236=)
c.266C>T
c.918C>T (p.Pro306=)
c.777C>T (p.Pro259=)
c.774C>T (p.Pro258=)
c.699C>T (p.Pro233=)
c.747C>T (p.Pro249=)
c.681C>T (p.Pro227=)
c.843C>T (p.Pro281=)
c.729C>T (p.Pro243=)
c.726C>T (p.Pro242=)
c.840C>T (p.Pro280=)
c.696C>T (p.Pro232=)
c.915C>T (p.Pro305=)
c.825C>T (p.Pro275=)
22g.35761245G>CCA514339641RBFOX2c.831C>G (p.Pro277=)
c.711C>G (p.Pro237=)
c.*242C>G (n.*242C>G)
c.*218C>G (n.*218C>G)
c.*161C>G (n.*161C>G)
c.921C>G (p.Pro307=)
c.654C>G (p.Pro218=)
c.648C>G (p.Pro216=)
c.651C>G (p.Pro217=)
c.708C>G (p.Pro236=)
c.266C>G
c.918C>G (p.Pro306=)
c.777C>G (p.Pro259=)
c.774C>G (p.Pro258=)
c.699C>G (p.Pro233=)
c.747C>G (p.Pro249=)
c.681C>G (p.Pro227=)
c.843C>G (p.Pro281=)
c.729C>G (p.Pro243=)
c.726C>G (p.Pro242=)
c.840C>G (p.Pro280=)
c.696C>G (p.Pro232=)
c.915C>G (p.Pro305=)
c.825C>G (p.Pro275=)
22g.35761245G>TCA514339642RBFOX2c.831C>A (p.Pro277=)
c.711C>A (p.Pro237=)
c.*242C>A (n.*242C>A)
c.*218C>A (n.*218C>A)
c.*161C>A (n.*161C>A)
c.921C>A (p.Pro307=)
c.654C>A (p.Pro218=)
c.648C>A (p.Pro216=)
c.651C>A (p.Pro217=)
c.708C>A (p.Pro236=)
c.266C>A
c.918C>A (p.Pro306=)
c.777C>A (p.Pro259=)
c.774C>A (p.Pro258=)
c.699C>A (p.Pro233=)
c.747C>A (p.Pro249=)
c.681C>A (p.Pro227=)
c.843C>A (p.Pro281=)
c.729C>A (p.Pro243=)
c.726C>A (p.Pro242=)
c.840C>A (p.Pro280=)
c.696C>A (p.Pro232=)
c.915C>A (p.Pro305=)
c.825C>A (p.Pro275=)
22g.35761246G>ACA411358951RBFOX2c.830C>T (p.Pro277Leu)
c.710C>T (p.Pro237Leu)
c.*241C>T (n.*241C>T)
c.*217C>T (n.*217C>T)
c.*160C>T (n.*160C>T)
c.920C>T (p.Pro307Leu)
c.653C>T (p.Pro218Leu)
c.647C>T (p.Pro216Leu)
c.650C>T (p.Pro217Leu)
c.707C>T (p.Pro236Leu)
c.265C>T
c.917C>T (p.Pro306Leu)
c.776C>T (p.Pro259Leu)
c.773C>T (p.Pro258Leu)
c.698C>T (p.Pro233Leu)
c.746C>T (p.Pro249Leu)
c.680C>T (p.Pro227Leu)
c.842C>T (p.Pro281Leu)
c.728C>T (p.Pro243Leu)
c.725C>T (p.Pro242Leu)
c.839C>T (p.Pro280Leu)
c.695C>T (p.Pro232Leu)
c.914C>T (p.Pro305Leu)
c.824C>T (p.Pro275Leu)
22g.35761246G>CCA411358952RBFOX2c.830C>G (p.Pro277Arg)
c.710C>G (p.Pro237Arg)
c.*241C>G (n.*241C>G)
c.*217C>G (n.*217C>G)
c.*160C>G (n.*160C>G)
c.920C>G (p.Pro307Arg)
c.653C>G (p.Pro218Arg)
c.647C>G (p.Pro216Arg)
c.650C>G (p.Pro217Arg)
c.707C>G (p.Pro236Arg)
c.265C>G
c.917C>G (p.Pro306Arg)
c.776C>G (p.Pro259Arg)
c.773C>G (p.Pro258Arg)
c.698C>G (p.Pro233Arg)
c.746C>G (p.Pro249Arg)
c.680C>G (p.Pro227Arg)
c.842C>G (p.Pro281Arg)
c.728C>G (p.Pro243Arg)
c.725C>G (p.Pro242Arg)
c.839C>G (p.Pro280Arg)
c.695C>G (p.Pro232Arg)
c.914C>G (p.Pro305Arg)
c.824C>G (p.Pro275Arg)
22g.35761246G>TCA411358954RBFOX2c.830C>A (p.Pro277His)
c.710C>A (p.Pro237His)
c.*241C>A (n.*241C>A)
c.*217C>A (n.*217C>A)
c.*160C>A (n.*160C>A)
c.920C>A (p.Pro307His)
c.653C>A (p.Pro218His)
c.647C>A (p.Pro216His)
c.650C>A (p.Pro217His)
c.707C>A (p.Pro236His)
c.265C>A
c.917C>A (p.Pro306His)
c.776C>A (p.Pro259His)
c.773C>A (p.Pro258His)
c.698C>A (p.Pro233His)
c.746C>A (p.Pro249His)
c.680C>A (p.Pro227His)
c.842C>A (p.Pro281His)
c.728C>A (p.Pro243His)
c.725C>A (p.Pro242His)
c.839C>A (p.Pro280His)
c.695C>A (p.Pro232His)
c.914C>A (p.Pro305His)
c.824C>A (p.Pro275His)
22g.35761247G>ACA16043155RBFOX2c.829C>T (p.Pro277Ser)
c.709C>T (p.Pro237Ser)
c.*240C>T (n.*240C>T)
c.*216C>T (n.*216C>T)
c.*159C>T (n.*159C>T)
c.919C>T (p.Pro307Ser)
c.652C>T (p.Pro218Ser)
c.646C>T (p.Pro216Ser)
c.649C>T (p.Pro217Ser)
c.706C>T (p.Pro236Ser)
c.264C>T
c.916C>T (p.Pro306Ser)
c.775C>T (p.Pro259Ser)
c.772C>T (p.Pro258Ser)
c.697C>T (p.Pro233Ser)
c.745C>T (p.Pro249Ser)
c.679C>T (p.Pro227Ser)
c.841C>T (p.Pro281Ser)
c.727C>T (p.Pro243Ser)
c.724C>T (p.Pro242Ser)
c.838C>T (p.Pro280Ser)
c.694C>T (p.Pro232Ser)
c.913C>T (p.Pro305Ser)
c.823C>T (p.Pro275Ser)
ClinVar dbSNP
22g.35761247G>CCA411358963RBFOX2c.829C>G (p.Pro277Ala)
c.709C>G (p.Pro237Ala)
c.*240C>G (n.*240C>G)
c.*216C>G (n.*216C>G)
c.*159C>G (n.*159C>G)
c.919C>G (p.Pro307Ala)
c.652C>G (p.Pro218Ala)
c.646C>G (p.Pro216Ala)
c.649C>G (p.Pro217Ala)
c.706C>G (p.Pro236Ala)
c.264C>G
c.916C>G (p.Pro306Ala)
c.775C>G (p.Pro259Ala)
c.772C>G (p.Pro258Ala)
c.697C>G (p.Pro233Ala)
c.745C>G (p.Pro249Ala)
c.679C>G (p.Pro227Ala)
c.841C>G (p.Pro281Ala)
c.727C>G (p.Pro243Ala)
c.724C>G (p.Pro242Ala)
c.838C>G (p.Pro280Ala)
c.694C>G (p.Pro232Ala)
c.913C>G (p.Pro305Ala)
c.823C>G (p.Pro275Ala)
22g.35761247G=CA2403556517RBFOX2c.829C= (p.Pro277=)
c.709C= (p.Pro237=)
c.*240C= (n.*240C=)
c.*216C= (n.*216C=)
c.*159C= (n.*159C=)
c.919C= (p.Pro307=)
c.652C= (p.Pro218=)
c.646C= (p.Pro216=)
c.649C= (p.Pro217=)
c.706C= (p.Pro236=)
c.264C=
c.916C= (p.Pro306=)
c.775C= (p.Pro259=)
c.772C= (p.Pro258=)
c.697C= (p.Pro233=)
c.745C= (p.Pro249=)
c.679C= (p.Pro227=)
c.841C= (p.Pro281=)
c.727C= (p.Pro243=)
c.724C= (p.Pro242=)
c.838C= (p.Pro280=)
c.694C= (p.Pro232=)
c.913C= (p.Pro305=)
c.823C= (p.Pro275=)
22g.35761247G>TCA411358961RBFOX2c.829C>A (p.Pro277Thr)
c.709C>A (p.Pro237Thr)
c.*240C>A (n.*240C>A)
c.*216C>A (n.*216C>A)
c.*159C>A (n.*159C>A)
c.919C>A (p.Pro307Thr)
c.652C>A (p.Pro218Thr)
c.646C>A (p.Pro216Thr)
c.649C>A (p.Pro217Thr)
c.706C>A (p.Pro236Thr)
c.264C>A
c.916C>A (p.Pro306Thr)
c.775C>A (p.Pro259Thr)
c.772C>A (p.Pro258Thr)
c.697C>A (p.Pro233Thr)
c.745C>A (p.Pro249Thr)
c.679C>A (p.Pro227Thr)
c.841C>A (p.Pro281Thr)
c.727C>A (p.Pro243Thr)
c.724C>A (p.Pro242Thr)
c.838C>A (p.Pro280Thr)
c.694C>A (p.Pro232Thr)
c.913C>A (p.Pro305Thr)
c.823C>A (p.Pro275Thr)
22g.35761248C>ACA10206823RBFOX2c.828G>T (p.Val276=)
c.708G>T (p.Val236=)
c.*239G>T (n.*239G>T)
c.*215G>T (n.*215G>T)
c.*158G>T (n.*158G>T)
c.918G>T (p.Val306=)
c.651G>T (p.Val217=)
c.645G>T (p.Val215=)
c.648G>T (p.Val216=)
c.705G>T (p.Val235=)
c.263G>T
c.915G>T (p.Val305=)
c.774G>T (p.Val258=)
c.771G>T (p.Val257=)
c.696G>T (p.Val232=)
c.744G>T (p.Val248=)
c.678G>T (p.Val226=)
c.840G>T (p.Val280=)
c.726G>T (p.Val242=)
c.723G>T (p.Val241=)
c.837G>T (p.Val279=)
c.693G>T (p.Val231=)
c.912G>T (p.Val304=)
c.822G>T (p.Val274=)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.35761248C=CA2403556518RBFOX2c.828G= (p.Val276=)
c.708G= (p.Val236=)
c.*239G= (n.*239G=)
c.*215G= (n.*215G=)
c.*158G= (n.*158G=)
c.918G= (p.Val306=)
c.651G= (p.Val217=)
c.645G= (p.Val215=)
c.648G= (p.Val216=)
c.705G= (p.Val235=)
c.263G=
c.915G= (p.Val305=)
c.774G= (p.Val258=)
c.771G= (p.Val257=)
c.696G= (p.Val232=)
c.744G= (p.Val248=)
c.678G= (p.Val226=)
c.840G= (p.Val280=)
c.726G= (p.Val242=)
c.723G= (p.Val241=)
c.837G= (p.Val279=)
c.693G= (p.Val231=)
c.912G= (p.Val304=)
c.822G= (p.Val274=)
22g.35761248C>GCA514339644RBFOX2c.828G>C (p.Val276=)
c.708G>C (p.Val236=)
c.*239G>C (n.*239G>C)
c.*215G>C (n.*215G>C)
c.*158G>C (n.*158G>C)
c.918G>C (p.Val306=)
c.651G>C (p.Val217=)
c.645G>C (p.Val215=)
c.648G>C (p.Val216=)
c.705G>C (p.Val235=)
c.263G>C
c.915G>C (p.Val305=)
c.774G>C (p.Val258=)
c.771G>C (p.Val257=)
c.696G>C (p.Val232=)
c.744G>C (p.Val248=)
c.678G>C (p.Val226=)
c.840G>C (p.Val280=)
c.726G>C (p.Val242=)
c.723G>C (p.Val241=)
c.837G>C (p.Val279=)
c.693G>C (p.Val231=)
c.912G>C (p.Val304=)
c.822G>C (p.Val274=)
22g.35761248C>TCA514339645RBFOX2c.828G>A (p.Val276=)
c.708G>A (p.Val236=)
c.*239G>A (n.*239G>A)
c.*215G>A (n.*215G>A)
c.*158G>A (n.*158G>A)
c.918G>A (p.Val306=)
c.651G>A (p.Val217=)
c.645G>A (p.Val215=)
c.648G>A (p.Val216=)
c.705G>A (p.Val235=)
c.263G>A
c.915G>A (p.Val305=)
c.774G>A (p.Val258=)
c.771G>A (p.Val257=)
c.696G>A (p.Val232=)
c.744G>A (p.Val248=)
c.678G>A (p.Val226=)
c.840G>A (p.Val280=)
c.726G>A (p.Val242=)
c.723G>A (p.Val241=)
c.837G>A (p.Val279=)
c.693G>A (p.Val231=)
c.912G>A (p.Val304=)
c.822G>A (p.Val274=)
COSMIC COSMIC
22g.35761249A>CCA411358973RBFOX2c.827T>G (p.Val276Gly)
c.707T>G (p.Val236Gly)
c.*238T>G (n.*238T>G)
c.*214T>G (n.*214T>G)
c.*157T>G (n.*157T>G)
c.917T>G (p.Val306Gly)
c.650T>G (p.Val217Gly)
c.644T>G (p.Val215Gly)
c.647T>G (p.Val216Gly)
c.704T>G (p.Val235Gly)
c.262T>G
c.914T>G (p.Val305Gly)
c.773T>G (p.Val258Gly)
c.770T>G (p.Val257Gly)
c.695T>G (p.Val232Gly)
c.743T>G (p.Val248Gly)
c.677T>G (p.Val226Gly)
c.839T>G (p.Val280Gly)
c.725T>G (p.Val242Gly)
c.722T>G (p.Val241Gly)
c.836T>G (p.Val279Gly)
c.692T>G (p.Val231Gly)
c.911T>G (p.Val304Gly)
c.821T>G (p.Val274Gly)
22g.35761249A>GCA411358968RBFOX2c.827T>C (p.Val276Ala)
c.707T>C (p.Val236Ala)
c.*238T>C (n.*238T>C)
c.*214T>C (n.*214T>C)
c.*157T>C (n.*157T>C)
c.917T>C (p.Val306Ala)
c.650T>C (p.Val217Ala)
c.644T>C (p.Val215Ala)
c.647T>C (p.Val216Ala)
c.704T>C (p.Val235Ala)
c.262T>C
c.914T>C (p.Val305Ala)
c.773T>C (p.Val258Ala)
c.770T>C (p.Val257Ala)
c.695T>C (p.Val232Ala)
c.743T>C (p.Val248Ala)
c.677T>C (p.Val226Ala)
c.839T>C (p.Val280Ala)
c.725T>C (p.Val242Ala)
c.722T>C (p.Val241Ala)
c.836T>C (p.Val279Ala)
c.692T>C (p.Val231Ala)
c.911T>C (p.Val304Ala)
c.821T>C (p.Val274Ala)
22g.35761249A>TCA411358970RBFOX2c.827T>A (p.Val276Glu)
c.707T>A (p.Val236Glu)
c.*238T>A (n.*238T>A)
c.*214T>A (n.*214T>A)
c.*157T>A (n.*157T>A)
c.917T>A (p.Val306Glu)
c.650T>A (p.Val217Glu)
c.644T>A (p.Val215Glu)
c.647T>A (p.Val216Glu)
c.704T>A (p.Val235Glu)
c.262T>A
c.914T>A (p.Val305Glu)
c.773T>A (p.Val258Glu)
c.770T>A (p.Val257Glu)
c.695T>A (p.Val232Glu)
c.743T>A (p.Val248Glu)
c.677T>A (p.Val226Glu)
c.839T>A (p.Val280Glu)
c.725T>A (p.Val242Glu)
c.722T>A (p.Val241Glu)
c.836T>A (p.Val279Glu)
c.692T>A (p.Val231Glu)
c.911T>A (p.Val304Glu)
c.821T>A (p.Val274Glu)
22g.35761250C>ACA411358975RBFOX2c.826G>T (p.Val276Leu)
c.706G>T (p.Val236Leu)
c.*237G>T (n.*237G>T)
c.*213G>T (n.*213G>T)
c.*156G>T (n.*156G>T)
c.916G>T (p.Val306Leu)
c.649G>T (p.Val217Leu)
c.643G>T (p.Val215Leu)
c.646G>T (p.Val216Leu)
c.703G>T (p.Val235Leu)
c.261G>T
c.913G>T (p.Val305Leu)
c.772G>T (p.Val258Leu)
c.769G>T (p.Val257Leu)
c.694G>T (p.Val232Leu)
c.742G>T (p.Val248Leu)
c.676G>T (p.Val226Leu)
c.838G>T (p.Val280Leu)
c.724G>T (p.Val242Leu)
c.721G>T (p.Val241Leu)
c.835G>T (p.Val279Leu)
c.691G>T (p.Val231Leu)
c.910G>T (p.Val304Leu)
c.820G>T (p.Val274Leu)
22g.35761250C=CA2403556519RBFOX2c.826G= (p.Val276=)
c.706G= (p.Val236=)
c.*237G= (n.*237G=)
c.*213G= (n.*213G=)
c.*156G= (n.*156G=)
c.916G= (p.Val306=)
c.649G= (p.Val217=)
c.643G= (p.Val215=)
c.646G= (p.Val216=)
c.703G= (p.Val235=)
c.261G=
c.913G= (p.Val305=)
c.772G= (p.Val258=)
c.769G= (p.Val257=)
c.694G= (p.Val232=)
c.742G= (p.Val248=)
c.676G= (p.Val226=)
c.838G= (p.Val280=)
c.724G= (p.Val242=)
c.721G= (p.Val241=)
c.835G= (p.Val279=)
c.691G= (p.Val231=)
c.910G= (p.Val304=)
c.820G= (p.Val274=)
22g.35761250C>GCA411358979RBFOX2c.826G>C (p.Val276Leu)
c.706G>C (p.Val236Leu)
c.*237G>C (n.*237G>C)
c.*213G>C (n.*213G>C)
c.*156G>C (n.*156G>C)
c.916G>C (p.Val306Leu)
c.649G>C (p.Val217Leu)
c.643G>C (p.Val215Leu)
c.646G>C (p.Val216Leu)
c.703G>C (p.Val235Leu)
c.261G>C
c.913G>C (p.Val305Leu)
c.772G>C (p.Val258Leu)
c.769G>C (p.Val257Leu)
c.694G>C (p.Val232Leu)
c.742G>C (p.Val248Leu)
c.676G>C (p.Val226Leu)
c.838G>C (p.Val280Leu)
c.724G>C (p.Val242Leu)
c.721G>C (p.Val241Leu)
c.835G>C (p.Val279Leu)
c.691G>C (p.Val231Leu)
c.910G>C (p.Val304Leu)
c.820G>C (p.Val274Leu)
22g.35761250C>TCA10206824RBFOX2c.826G>A (p.Val276Met)
c.706G>A (p.Val236Met)
c.*237G>A (n.*237G>A)
c.*213G>A (n.*213G>A)
c.*156G>A (n.*156G>A)
c.916G>A (p.Val306Met)
c.649G>A (p.Val217Met)
c.643G>A (p.Val215Met)
c.646G>A (p.Val216Met)
c.703G>A (p.Val235Met)
c.261G>A
c.913G>A (p.Val305Met)
c.772G>A (p.Val258Met)
c.769G>A (p.Val257Met)
c.694G>A (p.Val232Met)
c.742G>A (p.Val248Met)
c.676G>A (p.Val226Met)
c.838G>A (p.Val280Met)
c.724G>A (p.Val242Met)
c.721G>A (p.Val241Met)
c.835G>A (p.Val279Met)
c.691G>A (p.Val231Met)
c.910G>A (p.Val304Met)
c.820G>A (p.Val274Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.35761251T>ACA514339646RBFOX2c.825A>T (p.Ala275=)
c.705A>T (p.Ala235=)
c.*236A>T (n.*236A>T)
c.*212A>T (n.*212A>T)
c.*155A>T (n.*155A>T)
c.915A>T (p.Ala305=)
c.648A>T (p.Ala216=)
c.642A>T (p.Ala214=)
c.645A>T (p.Ala215=)
c.702A>T (p.Ala234=)
c.260A>T
c.912A>T (p.Ala304=)
c.771A>T (p.Ala257=)
c.768A>T (p.Ala256=)
c.693A>T (p.Ala231=)
c.741A>T (p.Ala247=)
c.675A>T (p.Ala225=)
c.837A>T (p.Ala279=)
c.723A>T (p.Ala241=)
c.720A>T (p.Ala240=)
c.834A>T (p.Ala278=)
c.690A>T (p.Ala230=)
c.909A>T (p.Ala303=)
c.819A>T (p.Ala273=)
22g.35761251T>CCA514339648RBFOX2c.825A>G (p.Ala275=)
c.705A>G (p.Ala235=)
c.*236A>G (n.*236A>G)
c.*212A>G (n.*212A>G)
c.*155A>G (n.*155A>G)
c.915A>G (p.Ala305=)
c.648A>G (p.Ala216=)
c.642A>G (p.Ala214=)
c.645A>G (p.Ala215=)
c.702A>G (p.Ala234=)
c.260A>G
c.912A>G (p.Ala304=)
c.771A>G (p.Ala257=)
c.768A>G (p.Ala256=)
c.693A>G (p.Ala231=)
c.741A>G (p.Ala247=)
c.675A>G (p.Ala225=)
c.837A>G (p.Ala279=)
c.723A>G (p.Ala241=)
c.720A>G (p.Ala240=)
c.834A>G (p.Ala278=)
c.690A>G (p.Ala230=)
c.909A>G (p.Ala303=)
c.819A>G (p.Ala273=)
22g.35761251T>GCA514339647RBFOX2c.825A>C (p.Ala275=)
c.705A>C (p.Ala235=)
c.*236A>C (n.*236A>C)
c.*212A>C (n.*212A>C)
c.*155A>C (n.*155A>C)
c.915A>C (p.Ala305=)
c.648A>C (p.Ala216=)
c.642A>C (p.Ala214=)
c.645A>C (p.Ala215=)
c.702A>C (p.Ala234=)
c.260A>C
c.912A>C (p.Ala304=)
c.771A>C (p.Ala257=)
c.768A>C (p.Ala256=)
c.693A>C (p.Ala231=)
c.741A>C (p.Ala247=)
c.675A>C (p.Ala225=)
c.837A>C (p.Ala279=)
c.723A>C (p.Ala241=)
c.720A>C (p.Ala240=)
c.834A>C (p.Ala278=)
c.690A>C (p.Ala230=)
c.909A>C (p.Ala303=)
c.819A>C (p.Ala273=)
22g.35761254_35761264delCA2580099710RBFOX2c.815_825del (p.Asn272SerfsTer?)
c.695_705del (p.Asn232SerfsTer?)
c.*226_*236del (n.*226_*236del)
c.*202_*212del (n.*202_*212del)
c.*145_*155del (n.*145_*155del)
c.905_915del (p.Asn302SerfsTer?)
c.638_648del (p.Asn213SerfsTer?)
c.632_642del (p.Asn211SerfsTer?)
c.635_645del (p.Asn212SerfsTer?)
c.692_702del (p.Asn231SerfsTer?)
c.250_260del
c.902_912del (p.Asn301SerfsTer?)
c.761_771del (p.Asn254SerfsTer?)
c.758_768del (p.Asn253SerfsTer?)
c.683_693del (p.Asn228SerfsTer?)
c.731_741del (p.Asn244SerfsTer?)
c.665_675del (p.Asn222SerfsTer?)
c.827_837del (p.Asn276SerfsTer?)
c.713_723del (p.Asn238SerfsTer?)
c.710_720del (p.Asn237SerfsTer?)
c.824_834del (p.Asn275SerfsTer?)
c.680_690del (p.Asn227SerfsTer?)
c.899_909del (p.Asn300SerfsTer?)
c.809_819del (p.Asn270SerfsTer?)
ClinVar
22g.35761252G>ACA411358984RBFOX2c.824C>T (p.Ala275Val)
c.704C>T (p.Ala235Val)
c.*235C>T (n.*235C>T)
c.*211C>T (n.*211C>T)
c.*154C>T (n.*154C>T)
c.914C>T (p.Ala305Val)
c.647C>T (p.Ala216Val)
c.641C>T (p.Ala214Val)
c.644C>T (p.Ala215Val)
c.701C>T (p.Ala234Val)
c.259C>T
c.911C>T (p.Ala304Val)
c.770C>T (p.Ala257Val)
c.767C>T (p.Ala256Val)
c.692C>T (p.Ala231Val)
c.740C>T (p.Ala247Val)
c.674C>T (p.Ala225Val)
c.836C>T (p.Ala279Val)
c.722C>T (p.Ala241Val)
c.719C>T (p.Ala240Val)
c.833C>T (p.Ala278Val)
c.689C>T (p.Ala230Val)
c.908C>T (p.Ala303Val)
c.818C>T (p.Ala273Val)
gnomAD v4
22g.35761252G>CCA411358998RBFOX2c.824C>G (p.Ala275Gly)
c.704C>G (p.Ala235Gly)
c.*235C>G (n.*235C>G)
c.*211C>G (n.*211C>G)
c.*154C>G (n.*154C>G)
c.914C>G (p.Ala305Gly)
c.647C>G (p.Ala216Gly)
c.641C>G (p.Ala214Gly)
c.644C>G (p.Ala215Gly)
c.701C>G (p.Ala234Gly)
c.259C>G
c.911C>G (p.Ala304Gly)
c.770C>G (p.Ala257Gly)
c.767C>G (p.Ala256Gly)
c.692C>G (p.Ala231Gly)
c.740C>G (p.Ala247Gly)
c.674C>G (p.Ala225Gly)
c.836C>G (p.Ala279Gly)
c.722C>G (p.Ala241Gly)
c.719C>G (p.Ala240Gly)
c.833C>G (p.Ala278Gly)
c.689C>G (p.Ala230Gly)
c.908C>G (p.Ala303Gly)
c.818C>G (p.Ala273Gly)
22g.35761252G>TCA411359002RBFOX2c.824C>A (p.Ala275Glu)
c.704C>A (p.Ala235Glu)
c.*235C>A (n.*235C>A)
c.*211C>A (n.*211C>A)
c.*154C>A (n.*154C>A)
c.914C>A (p.Ala305Glu)
c.647C>A (p.Ala216Glu)
c.641C>A (p.Ala214Glu)
c.644C>A (p.Ala215Glu)
c.701C>A (p.Ala234Glu)
c.259C>A
c.911C>A (p.Ala304Glu)
c.770C>A (p.Ala257Glu)
c.767C>A (p.Ala256Glu)
c.692C>A (p.Ala231Glu)
c.740C>A (p.Ala247Glu)
c.674C>A (p.Ala225Glu)
c.836C>A (p.Ala279Glu)
c.722C>A (p.Ala241Glu)
c.719C>A (p.Ala240Glu)
c.833C>A (p.Ala278Glu)
c.689C>A (p.Ala230Glu)
c.908C>A (p.Ala303Glu)
c.818C>A (p.Ala273Glu)
22g.35761253C>ACA411359005RBFOX2c.823G>T (p.Ala275Ser)
c.703G>T (p.Ala235Ser)
c.*234G>T (n.*234G>T)
c.*210G>T (n.*210G>T)
c.*153G>T (n.*153G>T)
c.913G>T (p.Ala305Ser)
c.646G>T (p.Ala216Ser)
c.640G>T (p.Ala214Ser)
c.643G>T (p.Ala215Ser)
c.700G>T (p.Ala234Ser)
c.258G>T
c.910G>T (p.Ala304Ser)
c.769G>T (p.Ala257Ser)
c.766G>T (p.Ala256Ser)
c.691G>T (p.Ala231Ser)
c.739G>T (p.Ala247Ser)
c.673G>T (p.Ala225Ser)
c.835G>T (p.Ala279Ser)
c.721G>T (p.Ala241Ser)
c.718G>T (p.Ala240Ser)
c.832G>T (p.Ala278Ser)
c.688G>T (p.Ala230Ser)
c.907G>T (p.Ala303Ser)
c.817G>T (p.Ala273Ser)
22g.35761253C>GCA411359009RBFOX2c.823G>C (p.Ala275Pro)
c.703G>C (p.Ala235Pro)
c.*234G>C (n.*234G>C)
c.*210G>C (n.*210G>C)
c.*153G>C (n.*153G>C)
c.913G>C (p.Ala305Pro)
c.646G>C (p.Ala216Pro)
c.640G>C (p.Ala214Pro)
c.643G>C (p.Ala215Pro)
c.700G>C (p.Ala234Pro)
c.258G>C
c.910G>C (p.Ala304Pro)
c.769G>C (p.Ala257Pro)
c.766G>C (p.Ala256Pro)
c.691G>C (p.Ala231Pro)
c.739G>C (p.Ala247Pro)
c.673G>C (p.Ala225Pro)
c.835G>C (p.Ala279Pro)
c.721G>C (p.Ala241Pro)
c.718G>C (p.Ala240Pro)
c.832G>C (p.Ala278Pro)
c.688G>C (p.Ala230Pro)
c.907G>C (p.Ala303Pro)
c.817G>C (p.Ala273Pro)
22g.35761253C>TCA411359010RBFOX2c.823G>A (p.Ala275Thr)
c.703G>A (p.Ala235Thr)
c.*234G>A (n.*234G>A)
c.*210G>A (n.*210G>A)
c.*153G>A (n.*153G>A)
c.913G>A (p.Ala305Thr)
c.646G>A (p.Ala216Thr)
c.640G>A (p.Ala214Thr)
c.643G>A (p.Ala215Thr)
c.700G>A (p.Ala234Thr)
c.258G>A
c.910G>A (p.Ala304Thr)
c.769G>A (p.Ala257Thr)
c.766G>A (p.Ala256Thr)
c.691G>A (p.Ala231Thr)
c.739G>A (p.Ala247Thr)
c.673G>A (p.Ala225Thr)
c.835G>A (p.Ala279Thr)
c.721G>A (p.Ala241Thr)
c.718G>A (p.Ala240Thr)
c.832G>A (p.Ala278Thr)
c.688G>A (p.Ala230Thr)
c.907G>A (p.Ala303Thr)
c.817G>A (p.Ala273Thr)
22g.35761254T>ACA514339649RBFOX2c.822A>T (p.Ala274=)
c.702A>T (p.Ala234=)
c.*233A>T (n.*233A>T)
c.*209A>T (n.*209A>T)
c.*152A>T (n.*152A>T)
c.912A>T (p.Ala304=)
c.645A>T (p.Ala215=)
c.639A>T (p.Ala213=)
c.642A>T (p.Ala214=)
c.699A>T (p.Ala233=)
c.257A>T
c.909A>T (p.Ala303=)
c.768A>T (p.Ala256=)
c.765A>T (p.Ala255=)
c.690A>T (p.Ala230=)
c.738A>T (p.Ala246=)
c.672A>T (p.Ala224=)
c.834A>T (p.Ala278=)
c.720A>T (p.Ala240=)
c.717A>T (p.Ala239=)
c.831A>T (p.Ala277=)
c.687A>T (p.Ala229=)
c.906A>T (p.Ala302=)
c.816A>T (p.Ala272=)
22g.35761254T>CCA514339650RBFOX2c.822A>G (p.Ala274=)
c.702A>G (p.Ala234=)
c.*233A>G (n.*233A>G)
c.*209A>G (n.*209A>G)
c.*152A>G (n.*152A>G)
c.912A>G (p.Ala304=)
c.645A>G (p.Ala215=)
c.639A>G (p.Ala213=)
c.642A>G (p.Ala214=)
c.699A>G (p.Ala233=)
c.257A>G
c.909A>G (p.Ala303=)
c.768A>G (p.Ala256=)
c.765A>G (p.Ala255=)
c.690A>G (p.Ala230=)
c.738A>G (p.Ala246=)
c.672A>G (p.Ala224=)
c.834A>G (p.Ala278=)
c.720A>G (p.Ala240=)
c.717A>G (p.Ala239=)
c.831A>G (p.Ala277=)
c.687A>G (p.Ala229=)
c.906A>G (p.Ala302=)
c.816A>G (p.Ala272=)
22g.35761254T>GCA514339651RBFOX2c.822A>C (p.Ala274=)
c.702A>C (p.Ala234=)
c.*233A>C (n.*233A>C)
c.*209A>C (n.*209A>C)
c.*152A>C (n.*152A>C)
c.912A>C (p.Ala304=)
c.645A>C (p.Ala215=)
c.639A>C (p.Ala213=)
c.642A>C (p.Ala214=)
c.699A>C (p.Ala233=)
c.257A>C
c.909A>C (p.Ala303=)
c.768A>C (p.Ala256=)
c.765A>C (p.Ala255=)
c.690A>C (p.Ala230=)
c.738A>C (p.Ala246=)
c.672A>C (p.Ala224=)
c.834A>C (p.Ala278=)
c.720A>C (p.Ala240=)
c.717A>C (p.Ala239=)
c.831A>C (p.Ala277=)
c.687A>C (p.Ala229=)
c.906A>C (p.Ala302=)
c.816A>C (p.Ala272=)
dbSNP gnomAD v3 gnomAD v4
22g.35761254T=CA2403556520RBFOX2c.822A= (p.Ala274=)
c.702A= (p.Ala234=)
c.*233A= (n.*233A=)
c.*209A= (n.*209A=)
c.*152A= (n.*152A=)
c.912A= (p.Ala304=)
c.645A= (p.Ala215=)
c.639A= (p.Ala213=)
c.642A= (p.Ala214=)
c.699A= (p.Ala233=)
c.257A=
c.909A= (p.Ala303=)
c.768A= (p.Ala256=)
c.765A= (p.Ala255=)
c.690A= (p.Ala230=)
c.738A= (p.Ala246=)
c.672A= (p.Ala224=)
c.834A= (p.Ala278=)
c.720A= (p.Ala240=)
c.717A= (p.Ala239=)
c.831A= (p.Ala277=)
c.687A= (p.Ala229=)
c.906A= (p.Ala302=)
c.816A= (p.Ala272=)
22g.35761255G>ACA411359013RBFOX2c.821C>T (p.Ala274Val)
c.701C>T (p.Ala234Val)
c.*232C>T (n.*232C>T)
c.*208C>T (n.*208C>T)
c.*151C>T (n.*151C>T)
c.911C>T (p.Ala304Val)
c.644C>T (p.Ala215Val)
c.638C>T (p.Ala213Val)
c.641C>T (p.Ala214Val)
c.698C>T (p.Ala233Val)
c.256C>T
c.908C>T (p.Ala303Val)
c.767C>T (p.Ala256Val)
c.764C>T (p.Ala255Val)
c.689C>T (p.Ala230Val)
c.737C>T (p.Ala246Val)
c.671C>T (p.Ala224Val)
c.833C>T (p.Ala278Val)
c.719C>T (p.Ala240Val)
c.716C>T (p.Ala239Val)
c.830C>T (p.Ala277Val)
c.686C>T (p.Ala229Val)
c.905C>T (p.Ala302Val)
c.815C>T (p.Ala272Val)
dbSNP gnomAD v2 gnomAD v4
22g.35761255G>CCA411359011RBFOX2c.821C>G (p.Ala274Gly)
c.701C>G (p.Ala234Gly)
c.*232C>G (n.*232C>G)
c.*208C>G (n.*208C>G)
c.*151C>G (n.*151C>G)
c.911C>G (p.Ala304Gly)
c.644C>G (p.Ala215Gly)
c.638C>G (p.Ala213Gly)
c.641C>G (p.Ala214Gly)
c.698C>G (p.Ala233Gly)
c.256C>G
c.908C>G (p.Ala303Gly)
c.767C>G (p.Ala256Gly)
c.764C>G (p.Ala255Gly)
c.689C>G (p.Ala230Gly)
c.737C>G (p.Ala246Gly)
c.671C>G (p.Ala224Gly)
c.833C>G (p.Ala278Gly)
c.719C>G (p.Ala240Gly)
c.716C>G (p.Ala239Gly)
c.830C>G (p.Ala277Gly)
c.686C>G (p.Ala229Gly)
c.905C>G (p.Ala302Gly)
c.815C>G (p.Ala272Gly)
22g.35761255G=CA2403556521RBFOX2c.821C= (p.Ala274=)
c.701C= (p.Ala234=)
c.*232C= (n.*232C=)
c.*208C= (n.*208C=)
c.*151C= (n.*151C=)
c.911C= (p.Ala304=)
c.644C= (p.Ala215=)
c.638C= (p.Ala213=)
c.641C= (p.Ala214=)
c.698C= (p.Ala233=)
c.256C=
c.908C= (p.Ala303=)
c.767C= (p.Ala256=)
c.764C= (p.Ala255=)
c.689C= (p.Ala230=)
c.737C= (p.Ala246=)
c.671C= (p.Ala224=)
c.833C= (p.Ala278=)
c.719C= (p.Ala240=)
c.716C= (p.Ala239=)
c.830C= (p.Ala277=)
c.686C= (p.Ala229=)
c.905C= (p.Ala302=)
c.815C= (p.Ala272=)
22g.35761255G>TCA411359012RBFOX2c.821C>A (p.Ala274Glu)
c.701C>A (p.Ala234Glu)
c.*232C>A (n.*232C>A)
c.*208C>A (n.*208C>A)
c.*151C>A (n.*151C>A)
c.911C>A (p.Ala304Glu)
c.644C>A (p.Ala215Glu)
c.638C>A (p.Ala213Glu)
c.641C>A (p.Ala214Glu)
c.698C>A (p.Ala233Glu)
c.256C>A
c.908C>A (p.Ala303Glu)
c.767C>A (p.Ala256Glu)
c.764C>A (p.Ala255Glu)
c.689C>A (p.Ala230Glu)
c.737C>A (p.Ala246Glu)
c.671C>A (p.Ala224Glu)
c.833C>A (p.Ala278Glu)
c.719C>A (p.Ala240Glu)
c.716C>A (p.Ala239Glu)
c.830C>A (p.Ala277Glu)
c.686C>A (p.Ala229Glu)
c.905C>A (p.Ala302Glu)
c.815C>A (p.Ala272Glu)
22g.35761256C>ACA323545620RBFOX2c.820G>T (p.Ala274Ser)
c.700G>T (p.Ala234Ser)
c.*231G>T (n.*231G>T)
c.*207G>T (n.*207G>T)
c.*150G>T (n.*150G>T)
c.910G>T (p.Ala304Ser)
c.643G>T (p.Ala215Ser)
c.637G>T (p.Ala213Ser)
c.640G>T (p.Ala214Ser)
c.697G>T (p.Ala233Ser)
c.255G>T
c.907G>T (p.Ala303Ser)
c.766G>T (p.Ala256Ser)
c.763G>T (p.Ala255Ser)
c.688G>T (p.Ala230Ser)
c.736G>T (p.Ala246Ser)
c.670G>T (p.Ala224Ser)
c.832G>T (p.Ala278Ser)
c.718G>T (p.Ala240Ser)
c.715G>T (p.Ala239Ser)
c.829G>T (p.Ala277Ser)
c.685G>T (p.Ala229Ser)
c.904G>T (p.Ala302Ser)
c.814G>T (p.Ala272Ser)
dbSNP
22g.35761256C=CA2403556522RBFOX2c.820G= (p.Ala274=)
c.700G= (p.Ala234=)
c.*231G= (n.*231G=)
c.*207G= (n.*207G=)
c.*150G= (n.*150G=)
c.910G= (p.Ala304=)
c.643G= (p.Ala215=)
c.637G= (p.Ala213=)
c.640G= (p.Ala214=)
c.697G= (p.Ala233=)
c.255G=
c.907G= (p.Ala303=)
c.766G= (p.Ala256=)
c.763G= (p.Ala255=)
c.688G= (p.Ala230=)
c.736G= (p.Ala246=)
c.670G= (p.Ala224=)
c.832G= (p.Ala278=)
c.718G= (p.Ala240=)
c.715G= (p.Ala239=)
c.829G= (p.Ala277=)
c.685G= (p.Ala229=)
c.904G= (p.Ala302=)
c.814G= (p.Ala272=)
22g.35761256C>GCA411359024RBFOX2c.820G>C (p.Ala274Pro)
c.700G>C (p.Ala234Pro)
c.*231G>C (n.*231G>C)
c.*207G>C (n.*207G>C)
c.*150G>C (n.*150G>C)
c.910G>C (p.Ala304Pro)
c.643G>C (p.Ala215Pro)
c.637G>C (p.Ala213Pro)
c.640G>C (p.Ala214Pro)
c.697G>C (p.Ala233Pro)
c.255G>C
c.907G>C (p.Ala303Pro)
c.766G>C (p.Ala256Pro)
c.763G>C (p.Ala255Pro)
c.688G>C (p.Ala230Pro)
c.736G>C (p.Ala246Pro)
c.670G>C (p.Ala224Pro)
c.832G>C (p.Ala278Pro)
c.718G>C (p.Ala240Pro)
c.715G>C (p.Ala239Pro)
c.829G>C (p.Ala277Pro)
c.685G>C (p.Ala229Pro)
c.904G>C (p.Ala302Pro)
c.814G>C (p.Ala272Pro)
22g.35761256C>TCA411359025RBFOX2c.820G>A (p.Ala274Thr)
c.700G>A (p.Ala234Thr)
c.*231G>A (n.*231G>A)
c.*207G>A (n.*207G>A)
c.*150G>A (n.*150G>A)
c.910G>A (p.Ala304Thr)
c.643G>A (p.Ala215Thr)
c.637G>A (p.Ala213Thr)
c.640G>A (p.Ala214Thr)
c.697G>A (p.Ala233Thr)
c.255G>A
c.907G>A (p.Ala303Thr)
c.766G>A (p.Ala256Thr)
c.763G>A (p.Ala255Thr)
c.688G>A (p.Ala230Thr)
c.736G>A (p.Ala246Thr)
c.670G>A (p.Ala224Thr)
c.832G>A (p.Ala278Thr)
c.718G>A (p.Ala240Thr)
c.715G>A (p.Ala239Thr)
c.829G>A (p.Ala277Thr)
c.685G>A (p.Ala229Thr)
c.904G>A (p.Ala302Thr)
c.814G>A (p.Ala272Thr)
22g.35761257A=CA2403556523RBFOX2c.819T= (p.Asp273=)
c.699T= (p.Asp233=)
c.*230T= (n.*230T=)
c.*206T= (n.*206T=)
c.*149T= (n.*149T=)
c.909T= (p.Asp303=)
c.642T= (p.Asp214=)
c.636T= (p.Asp212=)
c.639T= (p.Asp213=)
c.696T= (p.Asp232=)
c.254T=
c.906T= (p.Asp302=)
c.765T= (p.Asp255=)
c.762T= (p.Asp254=)
c.687T= (p.Asp229=)
c.735T= (p.Asp245=)
c.669T= (p.Asp223=)
c.831T= (p.Asp277=)
c.717T= (p.Asp239=)
c.714T= (p.Asp238=)
c.828T= (p.Asp276=)
c.684T= (p.Asp228=)
c.903T= (p.Asp301=)
c.813T= (p.Asp271=)
22g.35761257A>CCA10206825RBFOX2c.819T>G (p.Asp273Glu)
c.699T>G (p.Asp233Glu)
c.*230T>G (n.*230T>G)
c.*206T>G (n.*206T>G)
c.*149T>G (n.*149T>G)
c.909T>G (p.Asp303Glu)
c.642T>G (p.Asp214Glu)
c.636T>G (p.Asp212Glu)
c.639T>G (p.Asp213Glu)
c.696T>G (p.Asp232Glu)
c.254T>G
c.906T>G (p.Asp302Glu)
c.765T>G (p.Asp255Glu)
c.762T>G (p.Asp254Glu)
c.687T>G (p.Asp229Glu)
c.735T>G (p.Asp245Glu)
c.669T>G (p.Asp223Glu)
c.831T>G (p.Asp277Glu)
c.717T>G (p.Asp239Glu)
c.714T>G (p.Asp238Glu)
c.828T>G (p.Asp276Glu)
c.684T>G (p.Asp228Glu)
c.903T>G (p.Asp301Glu)
c.813T>G (p.Asp271Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.35761257A>GCA514339652RBFOX2c.819T>C (p.Asp273=)
c.699T>C (p.Asp233=)
c.*230T>C (n.*230T>C)
c.*206T>C (n.*206T>C)
c.*149T>C (n.*149T>C)
c.909T>C (p.Asp303=)
c.642T>C (p.Asp214=)
c.636T>C (p.Asp212=)
c.639T>C (p.Asp213=)
c.696T>C (p.Asp232=)
c.254T>C
c.906T>C (p.Asp302=)
c.765T>C (p.Asp255=)
c.762T>C (p.Asp254=)
c.687T>C (p.Asp229=)
c.735T>C (p.Asp245=)
c.669T>C (p.Asp223=)
c.831T>C (p.Asp277=)
c.717T>C (p.Asp239=)
c.714T>C (p.Asp238=)
c.828T>C (p.Asp276=)
c.684T>C (p.Asp228=)
c.903T>C (p.Asp301=)
c.813T>C (p.Asp271=)
dbSNP
22g.35761257A>TCA411359029RBFOX2c.819T>A (p.Asp273Glu)
c.699T>A (p.Asp233Glu)
c.*230T>A (n.*230T>A)
c.*206T>A (n.*206T>A)
c.*149T>A (n.*149T>A)
c.909T>A (p.Asp303Glu)
c.642T>A (p.Asp214Glu)
c.636T>A (p.Asp212Glu)
c.639T>A (p.Asp213Glu)
c.696T>A (p.Asp232Glu)
c.254T>A
c.906T>A (p.Asp302Glu)
c.765T>A (p.Asp255Glu)
c.762T>A (p.Asp254Glu)
c.687T>A (p.Asp229Glu)
c.735T>A (p.Asp245Glu)
c.669T>A (p.Asp223Glu)
c.831T>A (p.Asp277Glu)
c.717T>A (p.Asp239Glu)
c.714T>A (p.Asp238Glu)
c.828T>A (p.Asp276Glu)
c.684T>A (p.Asp228Glu)
c.903T>A (p.Asp301Glu)
c.813T>A (p.Asp271Glu)
22g.35761258T>ACA411359035RBFOX2c.818A>T (p.Asp273Val)
c.698A>T (p.Asp233Val)
c.*229A>T (n.*229A>T)
c.*205A>T (n.*205A>T)
c.*148A>T (n.*148A>T)
c.908A>T (p.Asp303Val)
c.641A>T (p.Asp214Val)
c.635A>T (p.Asp212Val)
c.638A>T (p.Asp213Val)
c.695A>T (p.Asp232Val)
c.253A>T
c.905A>T (p.Asp302Val)
c.764A>T (p.Asp255Val)
c.761A>T (p.Asp254Val)
c.686A>T (p.Asp229Val)
c.734A>T (p.Asp245Val)
c.668A>T (p.Asp223Val)
c.830A>T (p.Asp277Val)
c.716A>T (p.Asp239Val)
c.713A>T (p.Asp238Val)
c.827A>T (p.Asp276Val)
c.683A>T (p.Asp228Val)
c.902A>T (p.Asp301Val)
c.812A>T (p.Asp271Val)
22g.35761258T>CCA411359039RBFOX2c.818A>G (p.Asp273Gly)
c.698A>G (p.Asp233Gly)
c.*229A>G (n.*229A>G)
c.*205A>G (n.*205A>G)
c.*148A>G (n.*148A>G)
c.908A>G (p.Asp303Gly)
c.641A>G (p.Asp214Gly)
c.635A>G (p.Asp212Gly)
c.638A>G (p.Asp213Gly)
c.695A>G (p.Asp232Gly)
c.253A>G
c.905A>G (p.Asp302Gly)
c.764A>G (p.Asp255Gly)
c.761A>G (p.Asp254Gly)
c.686A>G (p.Asp229Gly)
c.734A>G (p.Asp245Gly)
c.668A>G (p.Asp223Gly)
c.830A>G (p.Asp277Gly)
c.716A>G (p.Asp239Gly)
c.713A>G (p.Asp238Gly)
c.827A>G (p.Asp276Gly)
c.683A>G (p.Asp228Gly)
c.902A>G (p.Asp301Gly)
c.812A>G (p.Asp271Gly)
gnomAD v4
22g.35761258T>GCA411359043RBFOX2c.818A>C (p.Asp273Ala)
c.698A>C (p.Asp233Ala)
c.*229A>C (n.*229A>C)
c.*205A>C (n.*205A>C)
c.*148A>C (n.*148A>C)
c.908A>C (p.Asp303Ala)
c.641A>C (p.Asp214Ala)
c.635A>C (p.Asp212Ala)
c.638A>C (p.Asp213Ala)
c.695A>C (p.Asp232Ala)
c.253A>C
c.905A>C (p.Asp302Ala)
c.764A>C (p.Asp255Ala)
c.761A>C (p.Asp254Ala)
c.686A>C (p.Asp229Ala)
c.734A>C (p.Asp245Ala)
c.668A>C (p.Asp223Ala)
c.830A>C (p.Asp277Ala)
c.716A>C (p.Asp239Ala)
c.713A>C (p.Asp238Ala)
c.827A>C (p.Asp276Ala)
c.683A>C (p.Asp228Ala)
c.902A>C (p.Asp301Ala)
c.812A>C (p.Asp271Ala)
22g.35761259C>ACA411359045RBFOX2c.817G>T (p.Asp273Tyr)
c.697G>T (p.Asp233Tyr)
c.*228G>T (n.*228G>T)
c.*204G>T (n.*204G>T)
c.*147G>T (n.*147G>T)
c.907G>T (p.Asp303Tyr)
c.640G>T (p.Asp214Tyr)
c.634G>T (p.Asp212Tyr)
c.637G>T (p.Asp213Tyr)
c.694G>T (p.Asp232Tyr)
c.252G>T
c.904G>T (p.Asp302Tyr)
c.763G>T (p.Asp255Tyr)
c.760G>T (p.Asp254Tyr)
c.685G>T (p.Asp229Tyr)
c.733G>T (p.Asp245Tyr)
c.667G>T (p.Asp223Tyr)
c.829G>T (p.Asp277Tyr)
c.715G>T (p.Asp239Tyr)
c.712G>T (p.Asp238Tyr)
c.826G>T (p.Asp276Tyr)
c.682G>T (p.Asp228Tyr)
c.901G>T (p.Asp301Tyr)
c.811G>T (p.Asp271Tyr)
22g.35761259C>GCA411359046RBFOX2c.817G>C (p.Asp273His)
c.697G>C (p.Asp233His)
c.*228G>C (n.*228G>C)
c.*204G>C (n.*204G>C)
c.*147G>C (n.*147G>C)
c.907G>C (p.Asp303His)
c.640G>C (p.Asp214His)
c.634G>C (p.Asp212His)
c.637G>C (p.Asp213His)
c.694G>C (p.Asp232His)
c.252G>C
c.904G>C (p.Asp302His)
c.763G>C (p.Asp255His)
c.760G>C (p.Asp254His)
c.685G>C (p.Asp229His)
c.733G>C (p.Asp245His)
c.667G>C (p.Asp223His)
c.829G>C (p.Asp277His)
c.715G>C (p.Asp239His)
c.712G>C (p.Asp238His)
c.826G>C (p.Asp276His)
c.682G>C (p.Asp228His)
c.901G>C (p.Asp301His)
c.811G>C (p.Asp271His)
22g.35761259C>TCA411359047RBFOX2c.817G>A (p.Asp273Asn)
c.697G>A (p.Asp233Asn)
c.*228G>A (n.*228G>A)
c.*204G>A (n.*204G>A)
c.*147G>A (n.*147G>A)
c.907G>A (p.Asp303Asn)
c.640G>A (p.Asp214Asn)
c.634G>A (p.Asp212Asn)
c.637G>A (p.Asp213Asn)
c.694G>A (p.Asp232Asn)
c.252G>A
c.904G>A (p.Asp302Asn)
c.763G>A (p.Asp255Asn)
c.760G>A (p.Asp254Asn)
c.685G>A (p.Asp229Asn)
c.733G>A (p.Asp245Asn)
c.667G>A (p.Asp223Asn)
c.829G>A (p.Asp277Asn)
c.715G>A (p.Asp239Asn)
c.712G>A (p.Asp238Asn)
c.826G>A (p.Asp276Asn)
c.682G>A (p.Asp228Asn)
c.901G>A (p.Asp301Asn)
c.811G>A (p.Asp271Asn)
22g.35761260A=CA2403556524RBFOX2c.816T= (p.Asn272=)
c.696T= (p.Asn232=)
c.*227T= (n.*227T=)
c.*203T= (n.*203T=)
c.*146T= (n.*146T=)
c.906T= (p.Asn302=)
c.639T= (p.Asn213=)
c.633T= (p.Asn211=)
c.636T= (p.Asn212=)
c.693T= (p.Asn231=)
c.251T=
c.903T= (p.Asn301=)
c.762T= (p.Asn254=)
c.759T= (p.Asn253=)
c.684T= (p.Asn228=)
c.732T= (p.Asn244=)
c.666T= (p.Asn222=)
c.828T= (p.Asn276=)
c.714T= (p.Asn238=)
c.711T= (p.Asn237=)
c.825T= (p.Asn275=)
c.681T= (p.Asn227=)
c.900T= (p.Asn300=)
c.810T= (p.Asn270=)
22g.35761260A>CCA411359049RBFOX2c.816T>G (p.Asn272Lys)
c.696T>G (p.Asn232Lys)
c.*227T>G (n.*227T>G)
c.*203T>G (n.*203T>G)
c.*146T>G (n.*146T>G)
c.906T>G (p.Asn302Lys)
c.639T>G (p.Asn213Lys)
c.633T>G (p.Asn211Lys)
c.636T>G (p.Asn212Lys)
c.693T>G (p.Asn231Lys)
c.251T>G
c.903T>G (p.Asn301Lys)
c.762T>G (p.Asn254Lys)
c.759T>G (p.Asn253Lys)
c.684T>G (p.Asn228Lys)
c.732T>G (p.Asn244Lys)
c.666T>G (p.Asn222Lys)
c.828T>G (p.Asn276Lys)
c.714T>G (p.Asn238Lys)
c.711T>G (p.Asn237Lys)
c.825T>G (p.Asn275Lys)
c.681T>G (p.Asn227Lys)
c.900T>G (p.Asn300Lys)
c.810T>G (p.Asn270Lys)
22g.35761260A>GCA10206826RBFOX2c.816T>C (p.Asn272=)
c.696T>C (p.Asn232=)
c.*227T>C (n.*227T>C)
c.*203T>C (n.*203T>C)
c.*146T>C (n.*146T>C)
c.906T>C (p.Asn302=)
c.639T>C (p.Asn213=)
c.633T>C (p.Asn211=)
c.636T>C (p.Asn212=)
c.693T>C (p.Asn231=)
c.251T>C
c.903T>C (p.Asn301=)
c.762T>C (p.Asn254=)
c.759T>C (p.Asn253=)
c.684T>C (p.Asn228=)
c.732T>C (p.Asn244=)
c.666T>C (p.Asn222=)
c.828T>C (p.Asn276=)
c.714T>C (p.Asn238=)
c.711T>C (p.Asn237=)
c.825T>C (p.Asn275=)
c.681T>C (p.Asn227=)
c.900T>C (p.Asn300=)
c.810T>C (p.Asn270=)
dbSNP ExAC gnomAD v2
22g.35761260A>TCA411359048RBFOX2c.816T>A (p.Asn272Lys)
c.696T>A (p.Asn232Lys)
c.*227T>A (n.*227T>A)
c.*203T>A (n.*203T>A)
c.*146T>A (n.*146T>A)
c.906T>A (p.Asn302Lys)
c.639T>A (p.Asn213Lys)
c.633T>A (p.Asn211Lys)
c.636T>A (p.Asn212Lys)
c.693T>A (p.Asn231Lys)
c.251T>A
c.903T>A (p.Asn301Lys)
c.762T>A (p.Asn254Lys)
c.759T>A (p.Asn253Lys)
c.684T>A (p.Asn228Lys)
c.732T>A (p.Asn244Lys)
c.666T>A (p.Asn222Lys)
c.828T>A (p.Asn276Lys)
c.714T>A (p.Asn238Lys)
c.711T>A (p.Asn237Lys)
c.825T>A (p.Asn275Lys)
c.681T>A (p.Asn227Lys)
c.900T>A (p.Asn300Lys)
c.810T>A (p.Asn270Lys)
22g.35761261T>ACA411359054RBFOX2c.815A>T (p.Asn272Ile)
c.695A>T (p.Asn232Ile)
c.*226A>T (n.*226A>T)
c.*202A>T (n.*202A>T)
c.*145A>T (n.*145A>T)
c.905A>T (p.Asn302Ile)
c.638A>T (p.Asn213Ile)
c.632A>T (p.Asn211Ile)
c.635A>T (p.Asn212Ile)
c.692A>T (p.Asn231Ile)
c.250A>T
c.902A>T (p.Asn301Ile)
c.761A>T (p.Asn254Ile)
c.758A>T (p.Asn253Ile)
c.683A>T (p.Asn228Ile)
c.731A>T (p.Asn244Ile)
c.665A>T (p.Asn222Ile)
c.827A>T (p.Asn276Ile)
c.713A>T (p.Asn238Ile)
c.710A>T (p.Asn237Ile)
c.824A>T (p.Asn275Ile)
c.680A>T (p.Asn227Ile)
c.899A>T (p.Asn300Ile)
c.809A>T (p.Asn270Ile)
22g.35761261T>CCA323545632RBFOX2c.815A>G (p.Asn272Ser)
c.695A>G (p.Asn232Ser)
c.*226A>G (n.*226A>G)
c.*202A>G (n.*202A>G)
c.*145A>G (n.*145A>G)
c.905A>G (p.Asn302Ser)
c.638A>G (p.Asn213Ser)
c.632A>G (p.Asn211Ser)
c.635A>G (p.Asn212Ser)
c.692A>G (p.Asn231Ser)
c.250A>G
c.902A>G (p.Asn301Ser)
c.761A>G (p.Asn254Ser)
c.758A>G (p.Asn253Ser)
c.683A>G (p.Asn228Ser)
c.731A>G (p.Asn244Ser)
c.665A>G (p.Asn222Ser)
c.827A>G (p.Asn276Ser)
c.713A>G (p.Asn238Ser)
c.710A>G (p.Asn237Ser)
c.824A>G (p.Asn275Ser)
c.680A>G (p.Asn227Ser)
c.899A>G (p.Asn300Ser)
c.809A>G (p.Asn270Ser)
dbSNP gnomAD v3 gnomAD v4
22g.35761261T>GCA411359058RBFOX2c.815A>C (p.Asn272Thr)
c.695A>C (p.Asn232Thr)
c.*226A>C (n.*226A>C)
c.*202A>C (n.*202A>C)
c.*145A>C (n.*145A>C)
c.905A>C (p.Asn302Thr)
c.638A>C (p.Asn213Thr)
c.632A>C (p.Asn211Thr)
c.635A>C (p.Asn212Thr)
c.692A>C (p.Asn231Thr)
c.250A>C
c.902A>C (p.Asn301Thr)
c.761A>C (p.Asn254Thr)
c.758A>C (p.Asn253Thr)
c.683A>C (p.Asn228Thr)
c.731A>C (p.Asn244Thr)
c.665A>C (p.Asn222Thr)
c.827A>C (p.Asn276Thr)
c.713A>C (p.Asn238Thr)
c.710A>C (p.Asn237Thr)
c.824A>C (p.Asn275Thr)
c.680A>C (p.Asn227Thr)
c.899A>C (p.Asn300Thr)
c.809A>C (p.Asn270Thr)
22g.35761261T=CA2403556525RBFOX2c.815A= (p.Asn272=)
c.695A= (p.Asn232=)
c.*226A= (n.*226A=)
c.*202A= (n.*202A=)
c.*145A= (n.*145A=)
c.905A= (p.Asn302=)
c.638A= (p.Asn213=)
c.632A= (p.Asn211=)
c.635A= (p.Asn212=)
c.692A= (p.Asn231=)
c.250A=
c.902A= (p.Asn301=)
c.761A= (p.Asn254=)
c.758A= (p.Asn253=)
c.683A= (p.Asn228=)
c.731A= (p.Asn244=)
c.665A= (p.Asn222=)
c.827A= (p.Asn276=)
c.713A= (p.Asn238=)
c.710A= (p.Asn237=)
c.824A= (p.Asn275=)
c.680A= (p.Asn227=)
c.899A= (p.Asn300=)
c.809A= (p.Asn270=)

Number of alleles fetched