Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.35761164C>A | CA1025414123 | RBFOX2 | c.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 |
22 | g.35761164C= | CA2403556491 | RBFOX2 | c.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=) | |
22 | g.35761164C>T | CA2656389509 | RBFOX2 | c.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 |
22 | g.35761165A= | CA2403556492 | RBFOX2 | c.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=) | |
22 | g.35761165A>C | CA639127749 | RBFOX2 | c.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 |
22 | g.35761165A>G | CA10206808 | RBFOX2 | c.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 |
22 | g.35761166G>T | CA2656389510 | RBFOX2 | c.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 |
22 | g.35761167T>C | CA2656389511 | RBFOX2 | c.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 |
22 | g.35761169A= | CA2403556493 | RBFOX2 | c.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=) | |
22 | g.35761169A>T | CA639127753 | RBFOX2 | c.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 |
22 | g.35761174C>T | CA2656389512 | RBFOX2 | c.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 |
22 | g.35761175C= | CA2403556494 | RBFOX2 | c.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=) | |
22 | g.35761175C>T | CA10206809 | RBFOX2 | c.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 |
22 | g.35761176A>G | CA2656389513 | RBFOX2 | c.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 |
22 | g.35761177T>C | CA10206810 | RBFOX2 | c.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 |
22 | g.35761177T= | CA2403556495 | RBFOX2 | c.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=) | |
22 | g.35761178G>A | CA10206811 | RBFOX2 | c.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 |
22 | g.35761178G= | CA2403556496 | RBFOX2 | c.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=) | |
22 | g.35761179C= | CA2403556497 | RBFOX2 | c.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=) | |
22 | g.35761179C>T | CA2403556498 | RBFOX2 | c.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 |
22 | g.35761180_35761190delinsCAGGCCAACAT | CA2403556499 | RBFOX2 | c.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) | |
22 | g.35761181A>C | CA2656389514 | RBFOX2 | c.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 |
22 | g.35761185_35761194del | CA10206812 | RBFOX2 | c.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 |
22 | g.35761182G>C | CA2656389515 | RBFOX2 | c.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 |
22 | g.35761183G>A | CA10206813 | RBFOX2 | c.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 |
22 | g.35761183G= | CA2403556500 | RBFOX2 | c.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=) | |
22 | g.35761183G>T | CA2656389516 | RBFOX2 | c.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 |
22 | g.35761184C>A | CA639127759 | RBFOX2 | c.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 |
22 | g.35761184C= | CA2403556501 | RBFOX2 | c.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=) | |
22 | g.35761184C>G | CA1025414128 | RBFOX2 | c.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 |
22 | g.35761187_35761189dup | CA2403556502 | RBFOX2 | c.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 |
22 | g.35761188_35761190delinsCAT | CA2403556503 | RBFOX2 | c.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) | |
22 | g.35761189A>G | CA2656389517 | RBFOX2 | c.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 |
22 | g.35761190_35761191del | CA323545554 | RBFOX2 | c.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 |
22 | g.35761190T>C | CA10206814 | RBFOX2 | c.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 |
22 | g.35761190T= | CA2403556504 | RBFOX2 | c.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=) | |
22 | g.35761193G>A | CA2541211595 | RBFOX2 | c.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) | |
22 | g.35761193G>C | CA2656389518 | RBFOX2 | c.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 |
22 | g.35761194C= | CA2403556505 | RBFOX2 | c.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=) | |
22 | g.35761194C>T | CA752814624 | RBFOX2 | c.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 |
22 | g.35761199T>C | CA1025414132 | RBFOX2 | c.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 |
22 | g.35761199T= | CA2403556506 | RBFOX2 | c.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=) | |
22 | g.35761200A>C | CA411358645 | RBFOX2 | c.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) | |
22 | g.35761200A>G | CA411358648 | RBFOX2 | c.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) | |
22 | g.35761200A>T | CA411358652 | RBFOX2 | c.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) | |
22 | g.35761201C>A | CA411358654 | RBFOX2 | c.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) | |
22 | g.35761201C>G | CA411358656 | RBFOX2 | c.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) | |
22 | g.35761201C>T | CA411358658 | RBFOX2 | c.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) | |
22 | g.35761202T>A | CA411358659 | RBFOX2 | c.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) | |
22 | g.35761202T>C | CA411358661 | RBFOX2 | c.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 |
22 | g.35761202T>G | CA411358663 | RBFOX2 | c.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) | |
22 | g.35761203G>A | CA10206815 | RBFOX2 | c.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 |
22 | g.35761203G>C | CA411358669 | RBFOX2 | c.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) | |
22 | g.35761203G= | CA2403556507 | RBFOX2 | c.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=) | |
22 | g.35761203G>T | CA514339612 | RBFOX2 | c.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=) | |
22 | g.35761204A>C | CA411358672 | RBFOX2 | c.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) | |
22 | g.35761204A>G | CA411358676 | RBFOX2 | c.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) | |
22 | g.35761204A>T | CA411358678 | RBFOX2 | c.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) | |
22 | g.35761205T>A | CA411358679 | RBFOX2 | c.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 |
22 | g.35761205T>C | CA411358681 | RBFOX2 | c.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) | |
22 | g.35761205T>G | CA411358684 | RBFOX2 | c.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) | |
22 | g.35761206T>A | CA411358687 | RBFOX2 | c.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) | |
22 | g.35761206T>C | CA514339613 | RBFOX2 | c.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=) | |
22 | g.35761206T>G | CA411358688 | RBFOX2 | c.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) | |
22 | g.35761207A>C | CA411358697 | RBFOX2 | c.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) | |
22 | g.35761207A>G | CA411358699 | RBFOX2 | c.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) | |
22 | g.35761207A>T | CA411358701 | RBFOX2 | c.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) | |
22 | g.35761208A= | CA2403556508 | RBFOX2 | c.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=) | |
22 | g.35761208A>C | CA10206816 | RBFOX2 | c.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 |
22 | g.35761208A>G | CA514339614 | RBFOX2 | c.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=) | |
22 | g.35761208A>T | CA411358705 | RBFOX2 | c.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) | |
22 | g.35761209A>C | CA514339615 | RBFOX2 | c.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=) | |
22 | g.35761209A>G | CA514339616 | RBFOX2 | c.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=) | |
22 | g.35761209A>T | CA514339617 | RBFOX2 | c.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=) | |
22 | g.35761210G>A | CA411358716 | RBFOX2 | c.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) | |
22 | g.35761210G>C | CA411358710 | RBFOX2 | c.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) | |
22 | g.35761210G>T | CA411358713 | RBFOX2 | c.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) | |
22 | g.35761211G>A | CA411358722 | RBFOX2 | c.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) | |
22 | g.35761211G>C | CA411358725 | RBFOX2 | c.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) | |
22 | g.35761211G>T | CA411358726 | RBFOX2 | c.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) | |
22 | g.35761212A= | CA2403556509 | RBFOX2 | c.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=) | |
22 | g.35761212A>C | CA411358728 | RBFOX2 | c.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) | |
22 | g.35761212A>G | CA10206817 | RBFOX2 | c.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 |
22 | g.35761212A>T | CA514339618 | RBFOX2 | c.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=) | |
22 | g.35761213A>C | CA411358738 | RBFOX2 | c.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) | |
22 | g.35761213A>G | CA411358739 | RBFOX2 | c.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) | |
22 | g.35761213A>T | CA411358741 | RBFOX2 | c.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) | |
22 | g.35761214T>A | CA411358747 | RBFOX2 | c.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) | |
22 | g.35761214T>C | CA411358748 | RBFOX2 | c.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) | |
22 | g.35761214T>G | CA411358751 | RBFOX2 | c.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 |
22 | g.35761215G>A | CA514339619 | RBFOX2 | c.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=) | |
22 | g.35761215G>C | CA411358754 | RBFOX2 | c.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) | |
22 | g.35761215G>T | CA411358758 | RBFOX2 | c.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) | |
22 | g.35761216T>A | CA411358762 | RBFOX2 | c.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) | |
22 | g.35761216T>C | CA411358764 | RBFOX2 | c.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) | |
22 | g.35761216T>G | CA411358761 | RBFOX2 | c.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) | |
22 | g.35761216_35761217insTT | CA2656389519 | RBFOX2 | c.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 |
22 | g.35761217A>C | CA411358768 | RBFOX2 | c.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) | |
22 | g.35761217A>G | CA411358766 | RBFOX2 | c.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) | |
22 | g.35761217A>T | CA411358770 | RBFOX2 | c.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) | |
22 | g.35761218A>C | CA514339623 | RBFOX2 | c.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=) | |
22 | g.35761218A>G | CA514339622 | RBFOX2 | c.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=) | |
22 | g.35761218A>T | CA514339621 | RBFOX2 | c.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=) | |
22 | g.35761219G>A | CA411358774 | RBFOX2 | c.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) | |
22 | g.35761219G>C | CA411358789 | RBFOX2 | c.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) | |
22 | g.35761219G>T | CA411358777 | RBFOX2 | c.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) | |
22 | g.35761220T>A | CA411358794 | RBFOX2 | c.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) | |
22 | g.35761220T>C | CA411358796 | RBFOX2 | c.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 |
22 | g.35761220T>G | CA411358798 | RBFOX2 | c.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) | |
22 | g.35761221G>A | CA514339624 | RBFOX2 | c.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=) | |
22 | g.35761221G>C | CA411358799 | RBFOX2 | c.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) | |
22 | g.35761221G>T | CA411358801 | RBFOX2 | c.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) | |
22 | g.35761222T>A | CA411358803 | RBFOX2 | c.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) | |
22 | g.35761222T>C | CA411358804 | RBFOX2 | c.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 |
22 | g.35761222T>G | CA411358807 | RBFOX2 | c.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) | |
22 | g.35761223T>A | CA411358808 | RBFOX2 | c.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) | |
22 | g.35761223T>C | CA411358810 | RBFOX2 | c.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 |
22 | g.35761223T>G | CA411358809 | RBFOX2 | c.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) | |
22 | g.35761223T= | CA2403556510 | RBFOX2 | c.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=) | |
22 | g.35761224G>A | CA514339625 | RBFOX2 | c.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=) | |
22 | g.35761224G>C | CA411358811 | RBFOX2 | c.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) | |
22 | g.35761224G>T | CA514339626 | RBFOX2 | c.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=) | |
22 | g.35761225A>C | CA411358813 | RBFOX2 | c.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) | |
22 | g.35761225A>G | CA411358814 | RBFOX2 | c.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) | |
22 | g.35761225A>T | CA411358816 | RBFOX2 | c.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) | |
22 | g.35761226T>A | CA411358820 | RBFOX2 | c.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) | |
22 | g.35761226T>C | CA411358818 | RBFOX2 | c.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) | |
22 | g.35761226T>G | CA411358819 | RBFOX2 | c.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) | |
22 | g.35761227A>C | CA514339627 | RBFOX2 | c.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=) | |
22 | g.35761227A>G | CA514339628 | RBFOX2 | c.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=) | |
22 | g.35761227A>T | CA514339629 | RBFOX2 | c.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=) | |
22 | g.35761228C>A | CA411358821 | RBFOX2 | c.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 |
22 | g.35761228C= | CA2403556511 | RBFOX2 | c.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=) | |
22 | g.35761228C>G | CA411358822 | RBFOX2 | c.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) | |
22 | g.35761228C>T | CA10206818 | RBFOX2 | c.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 |
22 | g.35761229C>A | CA411358825 | RBFOX2 | c.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) | |
22 | g.35761229C= | CA2403556512 | RBFOX2 | c.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=) | |
22 | g.35761229C>G | CA411358826 | RBFOX2 | c.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) | |
22 | g.35761229C>T | CA411358831 | RBFOX2 | c.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 |
22 | g.35761230C>A | CA514339630 | RBFOX2 | c.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=) | |
22 | g.35761230C= | CA2403556513 | RBFOX2 | c.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=) | |
22 | g.35761230C>G | CA10206819 | RBFOX2 | c.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 |
22 | g.35761230C>T | CA514339631 | RBFOX2 | c.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=) | |
22 | g.35761231C>A | CA411358836 | RBFOX2 | c.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) | |
22 | g.35761231C>G | CA411358839 | RBFOX2 | c.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) | |
22 | g.35761231C>T | CA411358848 | RBFOX2 | c.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) | |
22 | g.35761232C>A | CA411358851 | RBFOX2 | c.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) | |
22 | g.35761232C>G | CA411358854 | RBFOX2 | c.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) | |
22 | g.35761232C>T | CA411358855 | RBFOX2 | c.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) | |
22 | g.35761233T>A | CA411358859 | RBFOX2 | c.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) | |
22 | g.35761233T>C | CA10206820 | RBFOX2 | c.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 |
22 | g.35761233T>G | CA411358863 | RBFOX2 | c.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) | |
22 | g.35761233T= | CA2403556514 | RBFOX2 | c.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=) | |
22 | g.35761234C>A | CA411358869 | RBFOX2 | c.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) | |
22 | g.35761234C>G | CA411358872 | RBFOX2 | c.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) | |
22 | g.35761234C>T | CA411358875 | RBFOX2 | c.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) | |
22 | g.35761235T>A | CA411358878 | RBFOX2 | c.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) | |
22 | g.35761235T>C | CA411358880 | RBFOX2 | c.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) | |
22 | g.35761235T>G | CA514339632 | RBFOX2 | c.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=) | |
22 | g.35761236T>A | CA514339633 | RBFOX2 | c.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=) | |
22 | g.35761236T>C | CA514339634 | RBFOX2 | c.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=) | |
22 | g.35761236T>G | CA514339635 | RBFOX2 | c.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=) | |
22 | g.35761237C>A | CA411358890 | RBFOX2 | c.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) | |
22 | g.35761237C>G | CA411358888 | RBFOX2 | c.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) | |
22 | g.35761237C>T | CA411358885 | RBFOX2 | c.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) | |
22 | g.35761238C>A | CA411358893 | RBFOX2 | c.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) | |
22 | g.35761238C>G | CA411358895 | RBFOX2 | c.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) | |
22 | g.35761238C>T | CA411358900 | RBFOX2 | c.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) | |
22 | g.35761239T>A | CA514339636 | RBFOX2 | c.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=) | |
22 | g.35761239T>C | CA514339637 | RBFOX2 | c.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=) | |
22 | g.35761239T>G | CA514339638 | RBFOX2 | c.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=) | |
22 | g.35761240G>A | CA411358906 | RBFOX2 | c.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) | |
22 | g.35761240G>C | CA411358915 | RBFOX2 | c.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) | |
22 | g.35761240G>T | CA411358917 | RBFOX2 | c.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) | |
22 | g.35761241A>C | CA411358921 | RBFOX2 | c.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) | |
22 | g.35761241A>G | CA411358925 | RBFOX2 | c.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) | |
22 | g.35761241A>T | CA411358923 | RBFOX2 | c.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) | |
22 | g.35761242T>A | CA514339639 | RBFOX2 | c.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=) | |
22 | g.35761242T>C | CA10206821 | RBFOX2 | c.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 |
22 | g.35761242T>G | CA514339640 | RBFOX2 | c.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=) | |
22 | g.35761242T= | CA2403556515 | RBFOX2 | c.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=) | |
22 | g.35761243A>C | CA411358933 | RBFOX2 | c.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) | |
22 | g.35761243A>G | CA411358936 | RBFOX2 | c.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) | |
22 | g.35761243A>T | CA411358938 | RBFOX2 | c.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) | |
22 | g.35761244G>A | CA10206822 | RBFOX2 | c.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 |
22 | g.35761244G>C | CA411358944 | RBFOX2 | c.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) | |
22 | g.35761244G= | CA2403556516 | RBFOX2 | c.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=) | |
22 | g.35761244G>T | CA411358949 | RBFOX2 | c.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 |
22 | g.35761245G>A | CA514339643 | RBFOX2 | c.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=) | |
22 | g.35761245G>C | CA514339641 | RBFOX2 | c.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=) | |
22 | g.35761245G>T | CA514339642 | RBFOX2 | c.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=) | |
22 | g.35761246G>A | CA411358951 | RBFOX2 | c.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) | |
22 | g.35761246G>C | CA411358952 | RBFOX2 | c.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) | |
22 | g.35761246G>T | CA411358954 | RBFOX2 | c.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) | |
22 | g.35761247G>A | CA16043155 | RBFOX2 | c.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 |
22 | g.35761247G>C | CA411358963 | RBFOX2 | c.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) | |
22 | g.35761247G= | CA2403556517 | RBFOX2 | c.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=) | |
22 | g.35761247G>T | CA411358961 | RBFOX2 | c.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) | |
22 | g.35761248C>A | CA10206823 | RBFOX2 | c.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 |
22 | g.35761248C= | CA2403556518 | RBFOX2 | c.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=) | |
22 | g.35761248C>G | CA514339644 | RBFOX2 | c.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=) | |
22 | g.35761248C>T | CA514339645 | RBFOX2 | c.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 |
22 | g.35761249A>C | CA411358973 | RBFOX2 | c.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) | |
22 | g.35761249A>G | CA411358968 | RBFOX2 | c.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) | |
22 | g.35761249A>T | CA411358970 | RBFOX2 | c.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) | |
22 | g.35761250C>A | CA411358975 | RBFOX2 | c.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) | |
22 | g.35761250C= | CA2403556519 | RBFOX2 | c.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=) | |
22 | g.35761250C>G | CA411358979 | RBFOX2 | c.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) | |
22 | g.35761250C>T | CA10206824 | RBFOX2 | c.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 |
22 | g.35761251T>A | CA514339646 | RBFOX2 | c.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=) | |
22 | g.35761251T>C | CA514339648 | RBFOX2 | c.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=) | |
22 | g.35761251T>G | CA514339647 | RBFOX2 | c.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=) | |
22 | g.35761254_35761264del | CA2580099710 | RBFOX2 | c.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 |
22 | g.35761252G>A | CA411358984 | RBFOX2 | c.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 |
22 | g.35761252G>C | CA411358998 | RBFOX2 | c.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) | |
22 | g.35761252G>T | CA411359002 | RBFOX2 | c.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) | |
22 | g.35761253C>A | CA411359005 | RBFOX2 | c.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) | |
22 | g.35761253C>G | CA411359009 | RBFOX2 | c.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) | |
22 | g.35761253C>T | CA411359010 | RBFOX2 | c.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) | |
22 | g.35761254T>A | CA514339649 | RBFOX2 | c.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=) | |
22 | g.35761254T>C | CA514339650 | RBFOX2 | c.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=) | |
22 | g.35761254T>G | CA514339651 | RBFOX2 | c.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 |
22 | g.35761254T= | CA2403556520 | RBFOX2 | c.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=) | |
22 | g.35761255G>A | CA411359013 | RBFOX2 | c.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 |
22 | g.35761255G>C | CA411359011 | RBFOX2 | c.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) | |
22 | g.35761255G= | CA2403556521 | RBFOX2 | c.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=) | |
22 | g.35761255G>T | CA411359012 | RBFOX2 | c.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) | |
22 | g.35761256C>A | CA323545620 | RBFOX2 | c.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 |
22 | g.35761256C= | CA2403556522 | RBFOX2 | c.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=) | |
22 | g.35761256C>G | CA411359024 | RBFOX2 | c.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) | |
22 | g.35761256C>T | CA411359025 | RBFOX2 | c.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) | |
22 | g.35761257A= | CA2403556523 | RBFOX2 | c.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=) | |
22 | g.35761257A>C | CA10206825 | RBFOX2 | c.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 |
22 | g.35761257A>G | CA514339652 | RBFOX2 | c.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 |
22 | g.35761257A>T | CA411359029 | RBFOX2 | c.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) | |
22 | g.35761258T>A | CA411359035 | RBFOX2 | c.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) | |
22 | g.35761258T>C | CA411359039 | RBFOX2 | c.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 |
22 | g.35761258T>G | CA411359043 | RBFOX2 | c.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) | |
22 | g.35761259C>A | CA411359045 | RBFOX2 | c.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) | |
22 | g.35761259C>G | CA411359046 | RBFOX2 | c.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) | |
22 | g.35761259C>T | CA411359047 | RBFOX2 | c.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) | |
22 | g.35761260A= | CA2403556524 | RBFOX2 | c.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=) | |
22 | g.35761260A>C | CA411359049 | RBFOX2 | c.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) | |
22 | g.35761260A>G | CA10206826 | RBFOX2 | c.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 |
22 | g.35761260A>T | CA411359048 | RBFOX2 | c.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) | |
22 | g.35761261T>A | CA411359054 | RBFOX2 | c.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) | |
22 | g.35761261T>C | CA323545632 | RBFOX2 | c.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 |
22 | g.35761261T>G | CA411359058 | RBFOX2 | c.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) | |
22 | g.35761261T= | CA2403556525 | RBFOX2 | c.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=) | |
22 | g.35761262T>A | CA411359060 | RBFOX2 | c.814A>T (p.Asn272Tyr) c.694A>T (p.Asn232Tyr) c.*225A>T (n.*225A>T) c.*201A>T (n.*201A>T) c.*144A>T (n.*144A>T) c.904A>T (p.Asn302Tyr) c.637A>T (p.Asn213Tyr) c.631A>T (p.Asn211Tyr) c.634A>T (p.Asn212Tyr) c.691A>T (p.Asn231Tyr) c.249A>T c.901A>T (p.Asn301Tyr) c.760A>T (p.Asn254Tyr) c.757A>T (p.Asn253Tyr) c.682A>T (p.Asn228Tyr) c.730A>T (p.Asn244Tyr) c.664A>T (p.Asn222Tyr) c.826A>T (p.Asn276Tyr) c.712A>T (p.Asn238Tyr) c.709A>T (p.Asn237Tyr) c.823A>T (p.Asn275Tyr) c.679A>T (p.Asn227Tyr) c.898A>T (p.Asn300Tyr) c.808A>T (p.Asn270Tyr) | |
22 | g.35761262T>C | CA411359061 | RBFOX2 | c.814A>G (p.Asn272Asp) c.694A>G (p.Asn232Asp) c.*225A>G (n.*225A>G) c.*201A>G (n.*201A>G) c.*144A>G (n.*144A>G) c.904A>G (p.Asn302Asp) c.637A>G (p.Asn213Asp) c.631A>G (p.Asn211Asp) c.634A>G (p.Asn212Asp) c.691A>G (p.Asn231Asp) c.249A>G c.901A>G (p.Asn301Asp) c.760A>G (p.Asn254Asp) c.757A>G (p.Asn253Asp) c.682A>G (p.Asn228Asp) c.730A>G (p.Asn244Asp) c.664A>G (p.Asn222Asp) c.826A>G (p.Asn276Asp) c.712A>G (p.Asn238Asp) c.709A>G (p.Asn237Asp) c.823A>G (p.Asn275Asp) c.679A>G (p.Asn227Asp) c.898A>G (p.Asn300Asp) c.808A>G (p.Asn270Asp) | |
22 | g.35761262T>G | CA411359062 | RBFOX2 | c.814A>C (p.Asn272His) c.694A>C (p.Asn232His) c.*225A>C (n.*225A>C) c.*201A>C (n.*201A>C) c.*144A>C (n.*144A>C) c.904A>C (p.Asn302His) c.637A>C (p.Asn213His) c.631A>C (p.Asn211His) c.634A>C (p.Asn212His) c.691A>C (p.Asn231His) c.249A>C c.901A>C (p.Asn301His) c.760A>C (p.Asn254His) c.757A>C (p.Asn253His) c.682A>C (p.Asn228His) c.730A>C (p.Asn244His) c.664A>C (p.Asn222His) c.826A>C (p.Asn276His) c.712A>C (p.Asn238His) c.709A>C (p.Asn237His) c.823A>C (p.Asn275His) c.679A>C (p.Asn227His) c.898A>C (p.Asn300His) c.808A>C (p.Asn270His) | |
22 | g.35761263G>A | CA514339653 | RBFOX2 | c.813C>T (p.Gly271=) c.693C>T (p.Gly231=) c.*224C>T (n.*224C>T) c.*200C>T (n.*200C>T) c.*143C>T (n.*143C>T) c.903C>T (p.Gly301=) c.636C>T (p.Gly212=) c.630C>T (p.Gly210=) c.633C>T (p.Gly211=) c.690C>T (p.Gly230=) c.248C>T c.900C>T (p.Gly300=) c.759C>T (p.Gly253=) c.756C>T (p.Gly252=) c.681C>T (p.Gly227=) c.729C>T (p.Gly243=) c.663C>T (p.Gly221=) c.825C>T (p.Gly275=) c.711C>T (p.Gly237=) c.708C>T (p.Gly236=) c.822C>T (p.Gly274=) c.678C>T (p.Gly226=) c.897C>T (p.Gly299=) c.807C>T (p.Gly269=) | gnomAD v4 |
22 | g.35761263G>C | CA514339654 | RBFOX2 | c.813C>G (p.Gly271=) c.693C>G (p.Gly231=) c.*224C>G (n.*224C>G) c.*200C>G (n.*200C>G) c.*143C>G (n.*143C>G) c.903C>G (p.Gly301=) c.636C>G (p.Gly212=) c.630C>G (p.Gly210=) c.633C>G (p.Gly211=) c.690C>G (p.Gly230=) c.248C>G c.900C>G (p.Gly300=) c.759C>G (p.Gly253=) c.756C>G (p.Gly252=) c.681C>G (p.Gly227=) c.729C>G (p.Gly243=) c.663C>G (p.Gly221=) c.825C>G (p.Gly275=) c.711C>G (p.Gly237=) c.708C>G (p.Gly236=) c.822C>G (p.Gly274=) c.678C>G (p.Gly226=) c.897C>G (p.Gly299=) c.807C>G (p.Gly269=) | |
22 | g.35761263G= | CA2403556526 | RBFOX2 | c.813C= (p.Gly271=) c.693C= (p.Gly231=) c.*224C= (n.*224C=) c.*200C= (n.*200C=) c.*143C= (n.*143C=) c.903C= (p.Gly301=) c.636C= (p.Gly212=) c.630C= (p.Gly210=) c.633C= (p.Gly211=) c.690C= (p.Gly230=) c.248C= c.900C= (p.Gly300=) c.759C= (p.Gly253=) c.756C= (p.Gly252=) c.681C= (p.Gly227=) c.729C= (p.Gly243=) c.663C= (p.Gly221=) c.825C= (p.Gly275=) c.711C= (p.Gly237=) c.708C= (p.Gly236=) c.822C= (p.Gly274=) c.678C= (p.Gly226=) c.897C= (p.Gly299=) c.807C= (p.Gly269=) | |
22 | g.35761263G>T | CA514339655 | RBFOX2 | c.813C>A (p.Gly271=) c.693C>A (p.Gly231=) c.*224C>A (n.*224C>A) c.*200C>A (n.*200C>A) c.*143C>A (n.*143C>A) c.903C>A (p.Gly301=) c.636C>A (p.Gly212=) c.630C>A (p.Gly210=) c.633C>A (p.Gly211=) c.690C>A (p.Gly230=) c.248C>A c.900C>A (p.Gly300=) c.759C>A (p.Gly253=) c.756C>A (p.Gly252=) c.681C>A (p.Gly227=) c.729C>A (p.Gly243=) c.663C>A (p.Gly221=) c.825C>A (p.Gly275=) c.711C>A (p.Gly237=) c.708C>A (p.Gly236=) c.822C>A (p.Gly274=) c.678C>A (p.Gly226=) c.897C>A (p.Gly299=) c.807C>A (p.Gly269=) | dbSNP |
22 | g.35761264C>A | CA411359063 | RBFOX2 | c.812G>T (p.Gly271Val) c.692G>T (p.Gly231Val) c.*223G>T (n.*223G>T) c.*199G>T (n.*199G>T) c.*142G>T (n.*142G>T) c.902G>T (p.Gly301Val) c.635G>T (p.Gly212Val) c.629G>T (p.Gly210Val) c.632G>T (p.Gly211Val) c.689G>T (p.Gly230Val) c.247G>T c.899G>T (p.Gly300Val) c.758G>T (p.Gly253Val) c.755G>T (p.Gly252Val) c.680G>T (p.Gly227Val) c.728G>T (p.Gly243Val) c.662G>T (p.Gly221Val) c.824G>T (p.Gly275Val) c.710G>T (p.Gly237Val) c.707G>T (p.Gly236Val) c.821G>T (p.Gly274Val) c.677G>T (p.Gly226Val) c.896G>T (p.Gly299Val) c.806G>T (p.Gly269Val) | |
22 | g.35761264C= | CA2403556527 | RBFOX2 | c.812G= (p.Gly271=) c.692G= (p.Gly231=) c.*223G= (n.*223G=) c.*199G= (n.*199G=) c.*142G= (n.*142G=) c.902G= (p.Gly301=) c.635G= (p.Gly212=) c.629G= (p.Gly210=) c.632G= (p.Gly211=) c.689G= (p.Gly230=) c.247G= c.899G= (p.Gly300=) c.758G= (p.Gly253=) c.755G= (p.Gly252=) c.680G= (p.Gly227=) c.728G= (p.Gly243=) c.662G= (p.Gly221=) c.824G= (p.Gly275=) c.710G= (p.Gly237=) c.707G= (p.Gly236=) c.821G= (p.Gly274=) c.677G= (p.Gly226=) c.896G= (p.Gly299=) c.806G= (p.Gly269=) | |
22 | g.35761264C>G | CA411359064 | RBFOX2 | c.812G>C (p.Gly271Ala) c.692G>C (p.Gly231Ala) c.*223G>C (n.*223G>C) c.*199G>C (n.*199G>C) c.*142G>C (n.*142G>C) c.902G>C (p.Gly301Ala) c.635G>C (p.Gly212Ala) c.629G>C (p.Gly210Ala) c.632G>C (p.Gly211Ala) c.689G>C (p.Gly230Ala) c.247G>C c.899G>C (p.Gly300Ala) c.758G>C (p.Gly253Ala) c.755G>C (p.Gly252Ala) c.680G>C (p.Gly227Ala) c.728G>C (p.Gly243Ala) c.662G>C (p.Gly221Ala) c.824G>C (p.Gly275Ala) c.710G>C (p.Gly237Ala) c.707G>C (p.Gly236Ala) c.821G>C (p.Gly274Ala) c.677G>C (p.Gly226Ala) c.896G>C (p.Gly299Ala) c.806G>C (p.Gly269Ala) | |
22 | g.35761264C>T | CA411359069 | RBFOX2 | c.812G>A (p.Gly271Asp) c.692G>A (p.Gly231Asp) c.*223G>A (n.*223G>A) c.*199G>A (n.*199G>A) c.*142G>A (n.*142G>A) c.902G>A (p.Gly301Asp) c.635G>A (p.Gly212Asp) c.629G>A (p.Gly210Asp) c.632G>A (p.Gly211Asp) c.689G>A (p.Gly230Asp) c.247G>A c.899G>A (p.Gly300Asp) c.758G>A (p.Gly253Asp) c.755G>A (p.Gly252Asp) c.680G>A (p.Gly227Asp) c.728G>A (p.Gly243Asp) c.662G>A (p.Gly221Asp) c.824G>A (p.Gly275Asp) c.710G>A (p.Gly237Asp) c.707G>A (p.Gly236Asp) c.821G>A (p.Gly274Asp) c.677G>A (p.Gly226Asp) c.896G>A (p.Gly299Asp) c.806G>A (p.Gly269Asp) | dbSNP |