Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.67206884_67206895delinsCTTTTTTTTTTT | CA1173042410 | C1orf141,IL23R | c.529-26_529-15delinsCTTTTTTTTTTT (n.529-26_529-15delinsCTTTTTTTTTTT) c.492-26_492-15delinsCTTTTTTTTTTT (n.492-26_492-15delinsCTTTTTTTTTTT) c.653-26_653-15delinsCTTTTTTTTTTT (n.653-26_653-15delinsCTTTTTTTTTTT) c.492-12690_492-12679delinsCTTTTTTTTTTT (n.492-12690_492-12679delinsCTTTTTTTTTTT) c.652+5987_652+5998delinsCTTTTTTTTTTT (n.652+5987_652+5998delinsCTTTTTTTTTTT) c.491+23925_491+23936delinsCTTTTTTTTTTT (n.491+23925_491+23936delinsCTTTTTTTTTTT) c.582-26_582-15delinsCTTTTTTTTTTT (n.582-26_582-15delinsCTTTTTTTTTTT) c.647+5987_647+5998delinsCTTTTTTTTTTT (n.647+5987_647+5998delinsCTTTTTTTTTTT) c.648-26_648-15delinsCTTTTTTTTTTT (n.648-26_648-15delinsCTTTTTTTTTTT) c.44-26_44-15delinsCTTTTTTTTTTT (n.44-26_44-15delinsCTTTTTTTTTTT) c.-104+24951_-104+24962delinsAAAAAAAAAAAG (n.-104+24951_-104+24962delinsAAAAAAAAAAAG) c.-110-26_-110-15delinsCTTTTTTTTTTT (n.-110-26_-110-15delinsCTTTTTTTTTTT) c.743-26_743-15delinsCTTTTTTTTTTT (n.743-26_743-15delinsCTTTTTTTTTTT) n.836-26_836-15delinsCTTTTTTTTTTT | |
1 | g.67206885_67206905delinsTTTTTTTTTTTTTTTTTTTTT | CA1146572137 | C1orf141,IL23R | c.529-25_529-5delinsTTTTTTTTTTTTTTTTTTTTT (n.529-25_529-5delinsTTTTTTTTTTTTTTTTTTTTT) c.492-25_492-5delinsTTTTTTTTTTTTTTTTTTTTT (n.492-25_492-5delinsTTTTTTTTTTTTTTTTTTTTT) c.653-25_653-5delinsTTTTTTTTTTTTTTTTTTTTT (n.653-25_653-5delinsTTTTTTTTTTTTTTTTTTTTT) c.492-12689_492-12669delinsTTTTTTTTTTTTTTTTTTTTT (n.492-12689_492-12669delinsTTTTTTTTTTTTTTTTTTTTT) c.652+5988_652+6008delinsTTTTTTTTTTTTTTTTTTTTT (n.652+5988_652+6008delinsTTTTTTTTTTTTTTTTTTTTT) c.491+23926_491+23946delinsTTTTTTTTTTTTTTTTTTTTT (n.491+23926_491+23946delinsTTTTTTTTTTTTTTTTTTTTT) c.582-25_582-5delinsTTTTTTTTTTTTTTTTTTTTT (n.582-25_582-5delinsTTTTTTTTTTTTTTTTTTTTT) c.647+5988_647+6008delinsTTTTTTTTTTTTTTTTTTTTT (n.647+5988_647+6008delinsTTTTTTTTTTTTTTTTTTTTT) c.648-25_648-5delinsTTTTTTTTTTTTTTTTTTTTT (n.648-25_648-5delinsTTTTTTTTTTTTTTTTTTTTT) c.44-25_44-5delinsTTTTTTTTTTTTTTTTTTTTT (n.44-25_44-5delinsTTTTTTTTTTTTTTTTTTTTT) c.-104+24941_-104+24961delinsAAAAAAAAAAAAAAAAAAAAA (n.-104+24941_-104+24961delinsAAAAAAAAAAAAAAAAAAAAA) c.-110-25_-110-5delinsTTTTTTTTTTTTTTTTTTTTT (n.-110-25_-110-5delinsTTTTTTTTTTTTTTTTTTTTT) c.743-25_743-5delinsTTTTTTTTTTTTTTTTTTTTT (n.743-25_743-5delinsTTTTTTTTTTTTTTTTTTTTT) n.836-25_836-5delinsTTTTTTTTTTTTTTTTTTTTT | |
1 | g.67206905_67206906insTTTTTTTTTTTTTTTTTTTTTT | CA1002751698 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
1 | g.67206905_67206906insTTTTTTTTTTTTTTTTTTTTTTT | CA1002751661 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
1 | g.67206905_67206906insTTTTTTTTTTTTTTTTTTTTTTTT | CA1002751667 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
1 | g.67206905_67206906insTTTTTTTTTTTTTTTTTTTTTTTTT | CA2646124315 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
1 | g.67206905_67206906insTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1002751625 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
1 | g.67206905_67206906insTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1002751614 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
1 | g.67206905_67206906insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1002751612 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
1 | g.67206905_67206906insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1002751607 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
1 | g.67206905_67206906insTTTGTGATTTTTTTTTTTTTTTTTTTTTTT | CA2743978229 | C1orf141,IL23R | c.529-5_529-4insTTTGTGATTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTGTGATTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTGTGATTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTGTGATTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTGTGATTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTGTGATTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTGTGATTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTGTGATTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTGTGATTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTGTGATTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTGTGATTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTGTGATTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTGTGATTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTGTGATTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTGTGATTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTGTGATTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTGTGATTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTGTGATTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTGTGATTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTGTGATTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAATCACAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAATCACAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTGTGATTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTGTGATTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTGTGATTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTGTGATTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTGTGATTTTTTTTTTTTTTTTTTTTTTT | |
1 | g.67206905_67206906insTTTTTTTATTTTTTTTTTTTTTTTTTTTTT | CA1002751609 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTATTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTTTATTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTTTATTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTTTATTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTTTATTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTTTATTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTTTATTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTTTATTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTTTATTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTTTATTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTTTATTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTTTATTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTTTATTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTTTATTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTTTATTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTTTATTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTTTATTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTTTATTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTTTATTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTTTATTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insATAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insATAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTATTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTTTATTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTTTATTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTTTATTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTTTATTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
1 | g.67206905_67206906insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1002751604 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
1 | g.67206905_67206906insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2646124310 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
1 | g.67206905_67206906insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1002751623 | C1orf141,IL23R | c.529-5_529-4insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
1 | g.67206905_67206906insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2646124309 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
1 | g.67206905_67206906insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2646124308 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
1 | g.67206905_67206906insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1002751603 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
1 | g.67206905_67206906insTTTTTTTTCCTTGTTTTTTTTTTTTTTTTTTTTTTT | CA2646124311 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTCCTTGTTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTTTTCCTTGTTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTTTTCCTTGTTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTTTTCCTTGTTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTTTTCCTTGTTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTTTTCCTTGTTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTTTTCCTTGTTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTTTTCCTTGTTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTTTTCCTTGTTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTTTTCCTTGTTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTTTTCCTTGTTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTTTTCCTTGTTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTTTTCCTTGTTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTTTTCCTTGTTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTTTTCCTTGTTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTTTTCCTTGTTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTTTTCCTTGTTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTTTTCCTTGTTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTTTTCCTTGTTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTTTTCCTTGTTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAACAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAACAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTTCCTTGTTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTTTTCCTTGTTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTTTTCCTTGTTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTTTTCCTTGTTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTTTTCCTTGTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
1 | g.67206905_67206906insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1002751600 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
1 | g.67206905_67206906insTTTTTTATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT | CA2743978230 | C1orf141,IL23R | c.529-5_529-4insTTTTTTATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTTATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTTATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTTATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTTATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTTATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTTATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTTATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTTATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTTATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTTATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTTATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTTATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTTATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTTATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTTATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTTATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTTATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTTATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTTATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAACAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAACAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTTATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTTATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTTATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTTATTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT | |
1 | g.67206905_67206906insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2646124307 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
1 | g.67206905_67206906insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1002751596 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
1 | g.67206905_67206906insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1002751583 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
1 | g.67206905_67206906insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2646124306 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
1 | g.67206905_67206906insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2646124305 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
1 | g.67206905_67206906insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1002751637 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
1 | g.67206905_67206906insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1002751639 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
1 | g.67206905_67206906insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1002751628 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
1 | g.67206905_67206906insTTTGTTTCTTCTTATGAAATTTTAAAACAGCCAAGATTTTTTTTTTTTTTTTTTTTTT | CA1002751585 | C1orf141,IL23R | c.529-5_529-4insTTTGTTTCTTCTTATGAAATTTTAAAACAGCCAAGATTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTGTTTCTTCTTATGAAATTTTAAAACAGCCAAGATTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTGTTTCTTCTTATGAAATTTTAAAACAGCCAAGATTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTGTTTCTTCTTATGAAATTTTAAAACAGCCAAGATTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTGTTTCTTCTTATGAAATTTTAAAACAGCCAAGATTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTGTTTCTTCTTATGAAATTTTAAAACAGCCAAGATTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTGTTTCTTCTTATGAAATTTTAAAACAGCCAAGATTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTGTTTCTTCTTATGAAATTTTAAAACAGCCAAGATTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTGTTTCTTCTTATGAAATTTTAAAACAGCCAAGATTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTGTTTCTTCTTATGAAATTTTAAAACAGCCAAGATTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTGTTTCTTCTTATGAAATTTTAAAACAGCCAAGATTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTGTTTCTTCTTATGAAATTTTAAAACAGCCAAGATTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTGTTTCTTCTTATGAAATTTTAAAACAGCCAAGATTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTGTTTCTTCTTATGAAATTTTAAAACAGCCAAGATTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTGTTTCTTCTTATGAAATTTTAAAACAGCCAAGATTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTGTTTCTTCTTATGAAATTTTAAAACAGCCAAGATTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTGTTTCTTCTTATGAAATTTTAAAACAGCCAAGATTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTGTTTCTTCTTATGAAATTTTAAAACAGCCAAGATTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTGTTTCTTCTTATGAAATTTTAAAACAGCCAAGATTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTGTTTCTTCTTATGAAATTTTAAAACAGCCAAGATTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insATCTTGGCTGTTTTAAAATTTCATAAGAAGAAACAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insATCTTGGCTGTTTTAAAATTTCATAAGAAGAAACAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTGTTTCTTCTTATGAAATTTTAAAACAGCCAAGATTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTGTTTCTTCTTATGAAATTTTAAAACAGCCAAGATTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTGTTTCTTCTTATGAAATTTTAAAACAGCCAAGATTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTGTTTCTTCTTATGAAATTTTAAAACAGCCAAGATTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTGTTTCTTCTTATGAAATTTTAAAACAGCCAAGATTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
1 | g.67206905_67206906insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1002751640 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
1 | g.67206905_67206906insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2599584706 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
1 | g.67206905_67206906insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2646124304 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
1 | g.67206905_67206906insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2646124312 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
1 | g.67206905_67206906insTTTTTATTTTGTTTTTTATTAAAAGTTTTCTTTTTCTCCCTTGGGAAGTTTTAAACAGCCAGGTTTTTTTTTTTTTTTTTTTTTTTTT | CA2646124303 | C1orf141,IL23R | c.529-5_529-4insTTTTTATTTTGTTTTTTATTAAAAGTTTTCTTTTTCTCCCTTGGGAAGTTTTAAACAGCCAGGTTTTTTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTATTTTGTTTTTTATTAAAAGTTTTCTTTTTCTCCCTTGGGAAGTTTTAAACAGCCAGGTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTATTTTGTTTTTTATTAAAAGTTTTCTTTTTCTCCCTTGGGAAGTTTTAAACAGCCAGGTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTATTTTGTTTTTTATTAAAAGTTTTCTTTTTCTCCCTTGGGAAGTTTTAAACAGCCAGGTTTTTTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTATTTTGTTTTTTATTAAAAGTTTTCTTTTTCTCCCTTGGGAAGTTTTAAACAGCCAGGTTTTTTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTATTTTGTTTTTTATTAAAAGTTTTCTTTTTCTCCCTTGGGAAGTTTTAAACAGCCAGGTTTTTTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTATTTTGTTTTTTATTAAAAGTTTTCTTTTTCTCCCTTGGGAAGTTTTAAACAGCCAGGTTTTTTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTATTTTGTTTTTTATTAAAAGTTTTCTTTTTCTCCCTTGGGAAGTTTTAAACAGCCAGGTTTTTTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTATTTTGTTTTTTATTAAAAGTTTTCTTTTTCTCCCTTGGGAAGTTTTAAACAGCCAGGTTTTTTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTATTTTGTTTTTTATTAAAAGTTTTCTTTTTCTCCCTTGGGAAGTTTTAAACAGCCAGGTTTTTTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTATTTTGTTTTTTATTAAAAGTTTTCTTTTTCTCCCTTGGGAAGTTTTAAACAGCCAGGTTTTTTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTATTTTGTTTTTTATTAAAAGTTTTCTTTTTCTCCCTTGGGAAGTTTTAAACAGCCAGGTTTTTTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTATTTTGTTTTTTATTAAAAGTTTTCTTTTTCTCCCTTGGGAAGTTTTAAACAGCCAGGTTTTTTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTATTTTGTTTTTTATTAAAAGTTTTCTTTTTCTCCCTTGGGAAGTTTTAAACAGCCAGGTTTTTTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTATTTTGTTTTTTATTAAAAGTTTTCTTTTTCTCCCTTGGGAAGTTTTAAACAGCCAGGTTTTTTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTATTTTGTTTTTTATTAAAAGTTTTCTTTTTCTCCCTTGGGAAGTTTTAAACAGCCAGGTTTTTTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTATTTTGTTTTTTATTAAAAGTTTTCTTTTTCTCCCTTGGGAAGTTTTAAACAGCCAGGTTTTTTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTATTTTGTTTTTTATTAAAAGTTTTCTTTTTCTCCCTTGGGAAGTTTTAAACAGCCAGGTTTTTTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTATTTTGTTTTTTATTAAAAGTTTTCTTTTTCTCCCTTGGGAAGTTTTAAACAGCCAGGTTTTTTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTATTTTGTTTTTTATTAAAAGTTTTCTTTTTCTCCCTTGGGAAGTTTTAAACAGCCAGGTTTTTTTTTTTTTTTTTTTTTTTTT) c.-104+24961_-104+24962insAAAACCTGGCTGTTTAAAACTTCCCAAGGGAGAAAAAGAAAACTTTTAATAAAAAACAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24961_-104+24962insAAAACCTGGCTGTTTAAAACTTCCCAAGGGAGAAAAAGAAAACTTTTAATAAAAAACAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTATTTTGTTTTTTATTAAAAGTTTTCTTTTTCTCCCTTGGGAAGTTTTAAACAGCCAGGTTTTTTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTATTTTGTTTTTTATTAAAAGTTTTCTTTTTCTCCCTTGGGAAGTTTTAAACAGCCAGGTTTTTTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTATTTTGTTTTTTATTAAAAGTTTTCTTTTTCTCCCTTGGGAAGTTTTAAACAGCCAGGTTTTTTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTATTTTGTTTTTTATTAAAAGTTTTCTTTTTCTCCCTTGGGAAGTTTTAAACAGCCAGGTTTTTTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTATTTTGTTTTTTATTAAAAGTTTTCTTTTTCTCCCTTGGGAAGTTTTAAACAGCCAGGTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
1 | g.67206905dup | CA899781 | C1orf141,IL23R | c.529-5dup (n.529-5dup) c.492-5dup (n.492-5dup) c.653-5dup (n.653-5dup) c.492-12669dup (n.492-12669dup) c.652+6008dup (n.652+6008dup) c.491+23946dup (n.491+23946dup) c.582-5dup (n.582-5dup) c.647+6008dup (n.647+6008dup) c.648-5dup (n.648-5dup) c.44-5dup (n.44-5dup) c.-104+24961dup (n.-104+24961dup) c.-110-5dup (n.-110-5dup) c.743-5dup (n.743-5dup) n.836-5dup | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.67206904_67206905dup | CA899780 | C1orf141,IL23R | c.529-6_529-5dup (n.529-6_529-5dup) c.492-6_492-5dup (n.492-6_492-5dup) c.653-6_653-5dup (n.653-6_653-5dup) c.492-12670_492-12669dup (n.492-12670_492-12669dup) c.652+6007_652+6008dup (n.652+6007_652+6008dup) c.491+23945_491+23946dup (n.491+23945_491+23946dup) c.582-6_582-5dup (n.582-6_582-5dup) c.647+6007_647+6008dup (n.647+6007_647+6008dup) c.648-6_648-5dup (n.648-6_648-5dup) c.44-6_44-5dup (n.44-6_44-5dup) c.-104+24960_-104+24961dup (n.-104+24960_-104+24961dup) c.-110-6_-110-5dup (n.-110-6_-110-5dup) c.743-6_743-5dup (n.743-6_743-5dup) n.836-6_836-5dup | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.67206903_67206905dup | CA899785 | C1orf141,IL23R | c.529-7_529-5dup (n.529-7_529-5dup) c.492-7_492-5dup (n.492-7_492-5dup) c.653-7_653-5dup (n.653-7_653-5dup) c.492-12671_492-12669dup (n.492-12671_492-12669dup) c.652+6006_652+6008dup (n.652+6006_652+6008dup) c.491+23944_491+23946dup (n.491+23944_491+23946dup) c.582-7_582-5dup (n.582-7_582-5dup) c.647+6006_647+6008dup (n.647+6006_647+6008dup) c.648-7_648-5dup (n.648-7_648-5dup) c.44-7_44-5dup (n.44-7_44-5dup) c.-104+24959_-104+24961dup (n.-104+24959_-104+24961dup) c.-110-7_-110-5dup (n.-110-7_-110-5dup) c.743-7_743-5dup (n.743-7_743-5dup) n.836-7_836-5dup | dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.67206902_67206905dup | CA899782 | C1orf141,IL23R | c.529-8_529-5dup (n.529-8_529-5dup) c.492-8_492-5dup (n.492-8_492-5dup) c.653-8_653-5dup (n.653-8_653-5dup) c.492-12672_492-12669dup (n.492-12672_492-12669dup) c.652+6005_652+6008dup (n.652+6005_652+6008dup) c.491+23943_491+23946dup (n.491+23943_491+23946dup) c.582-8_582-5dup (n.582-8_582-5dup) c.647+6005_647+6008dup (n.647+6005_647+6008dup) c.648-8_648-5dup (n.648-8_648-5dup) c.44-8_44-5dup (n.44-8_44-5dup) c.-104+24958_-104+24961dup (n.-104+24958_-104+24961dup) c.-110-8_-110-5dup (n.-110-8_-110-5dup) c.743-8_743-5dup (n.743-8_743-5dup) n.836-8_836-5dup | dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.67206901_67206905dup | CA1002751677 | C1orf141,IL23R | c.529-9_529-5dup (n.529-9_529-5dup) c.492-9_492-5dup (n.492-9_492-5dup) c.653-9_653-5dup (n.653-9_653-5dup) c.492-12673_492-12669dup (n.492-12673_492-12669dup) c.652+6004_652+6008dup (n.652+6004_652+6008dup) c.491+23942_491+23946dup (n.491+23942_491+23946dup) c.582-9_582-5dup (n.582-9_582-5dup) c.647+6004_647+6008dup (n.647+6004_647+6008dup) c.648-9_648-5dup (n.648-9_648-5dup) c.44-9_44-5dup (n.44-9_44-5dup) c.-104+24957_-104+24961dup (n.-104+24957_-104+24961dup) c.-110-9_-110-5dup (n.-110-9_-110-5dup) c.743-9_743-5dup (n.743-9_743-5dup) n.836-9_836-5dup | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206900_67206905dup | CA1002751679 | C1orf141,IL23R | c.529-10_529-5dup (n.529-10_529-5dup) c.492-10_492-5dup (n.492-10_492-5dup) c.653-10_653-5dup (n.653-10_653-5dup) c.492-12674_492-12669dup (n.492-12674_492-12669dup) c.652+6003_652+6008dup (n.652+6003_652+6008dup) c.491+23941_491+23946dup (n.491+23941_491+23946dup) c.582-10_582-5dup (n.582-10_582-5dup) c.647+6003_647+6008dup (n.647+6003_647+6008dup) c.648-10_648-5dup (n.648-10_648-5dup) c.44-10_44-5dup (n.44-10_44-5dup) c.-104+24956_-104+24961dup (n.-104+24956_-104+24961dup) c.-110-10_-110-5dup (n.-110-10_-110-5dup) c.743-10_743-5dup (n.743-10_743-5dup) n.836-10_836-5dup | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206899_67206905dup | CA1002751685 | C1orf141,IL23R | c.529-11_529-5dup (n.529-11_529-5dup) c.492-11_492-5dup (n.492-11_492-5dup) c.653-11_653-5dup (n.653-11_653-5dup) c.492-12675_492-12669dup (n.492-12675_492-12669dup) c.652+6002_652+6008dup (n.652+6002_652+6008dup) c.491+23940_491+23946dup (n.491+23940_491+23946dup) c.582-11_582-5dup (n.582-11_582-5dup) c.647+6002_647+6008dup (n.647+6002_647+6008dup) c.648-11_648-5dup (n.648-11_648-5dup) c.44-11_44-5dup (n.44-11_44-5dup) c.-104+24955_-104+24961dup (n.-104+24955_-104+24961dup) c.-110-11_-110-5dup (n.-110-11_-110-5dup) c.743-11_743-5dup (n.743-11_743-5dup) n.836-11_836-5dup | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206898_67206905dup | CA1002751688 | C1orf141,IL23R | c.529-12_529-5dup (n.529-12_529-5dup) c.492-12_492-5dup (n.492-12_492-5dup) c.653-12_653-5dup (n.653-12_653-5dup) c.492-12676_492-12669dup (n.492-12676_492-12669dup) c.652+6001_652+6008dup (n.652+6001_652+6008dup) c.491+23939_491+23946dup (n.491+23939_491+23946dup) c.582-12_582-5dup (n.582-12_582-5dup) c.647+6001_647+6008dup (n.647+6001_647+6008dup) c.648-12_648-5dup (n.648-12_648-5dup) c.44-12_44-5dup (n.44-12_44-5dup) c.-104+24954_-104+24961dup (n.-104+24954_-104+24961dup) c.-110-12_-110-5dup (n.-110-12_-110-5dup) c.743-12_743-5dup (n.743-12_743-5dup) n.836-12_836-5dup | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206897_67206905dup | CA1002751690 | C1orf141,IL23R | c.529-13_529-5dup (n.529-13_529-5dup) c.492-13_492-5dup (n.492-13_492-5dup) c.653-13_653-5dup (n.653-13_653-5dup) c.492-12677_492-12669dup (n.492-12677_492-12669dup) c.652+6000_652+6008dup (n.652+6000_652+6008dup) c.491+23938_491+23946dup (n.491+23938_491+23946dup) c.582-13_582-5dup (n.582-13_582-5dup) c.647+6000_647+6008dup (n.647+6000_647+6008dup) c.648-13_648-5dup (n.648-13_648-5dup) c.44-13_44-5dup (n.44-13_44-5dup) c.-104+24953_-104+24961dup (n.-104+24953_-104+24961dup) c.-110-13_-110-5dup (n.-110-13_-110-5dup) c.743-13_743-5dup (n.743-13_743-5dup) n.836-13_836-5dup | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206896_67206905dup | CA916198914 | C1orf141,IL23R | c.529-14_529-5dup (n.529-14_529-5dup) c.492-14_492-5dup (n.492-14_492-5dup) c.653-14_653-5dup (n.653-14_653-5dup) c.492-12678_492-12669dup (n.492-12678_492-12669dup) c.652+5999_652+6008dup (n.652+5999_652+6008dup) c.491+23937_491+23946dup (n.491+23937_491+23946dup) c.582-14_582-5dup (n.582-14_582-5dup) c.647+5999_647+6008dup (n.647+5999_647+6008dup) c.648-14_648-5dup (n.648-14_648-5dup) c.44-14_44-5dup (n.44-14_44-5dup) c.-104+24952_-104+24961dup (n.-104+24952_-104+24961dup) c.-110-14_-110-5dup (n.-110-14_-110-5dup) c.743-14_743-5dup (n.743-14_743-5dup) n.836-14_836-5dup | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206895_67206905dup | CA1002751635 | C1orf141,IL23R | c.529-15_529-5dup (n.529-15_529-5dup) c.492-15_492-5dup (n.492-15_492-5dup) c.653-15_653-5dup (n.653-15_653-5dup) c.492-12679_492-12669dup (n.492-12679_492-12669dup) c.652+5998_652+6008dup (n.652+5998_652+6008dup) c.491+23936_491+23946dup (n.491+23936_491+23946dup) c.582-15_582-5dup (n.582-15_582-5dup) c.647+5998_647+6008dup (n.647+5998_647+6008dup) c.648-15_648-5dup (n.648-15_648-5dup) c.44-15_44-5dup (n.44-15_44-5dup) c.-104+24951_-104+24961dup (n.-104+24951_-104+24961dup) c.-110-15_-110-5dup (n.-110-15_-110-5dup) c.743-15_743-5dup (n.743-15_743-5dup) n.836-15_836-5dup | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206894_67206905dup | CA1002751693 | C1orf141,IL23R | c.529-16_529-5dup (n.529-16_529-5dup) c.492-16_492-5dup (n.492-16_492-5dup) c.653-16_653-5dup (n.653-16_653-5dup) c.492-12680_492-12669dup (n.492-12680_492-12669dup) c.652+5997_652+6008dup (n.652+5997_652+6008dup) c.491+23935_491+23946dup (n.491+23935_491+23946dup) c.582-16_582-5dup (n.582-16_582-5dup) c.647+5997_647+6008dup (n.647+5997_647+6008dup) c.648-16_648-5dup (n.648-16_648-5dup) c.44-16_44-5dup (n.44-16_44-5dup) c.-104+24950_-104+24961dup (n.-104+24950_-104+24961dup) c.-110-16_-110-5dup (n.-110-16_-110-5dup) c.743-16_743-5dup (n.743-16_743-5dup) n.836-16_836-5dup | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206893_67206905dup | CA1002751724 | C1orf141,IL23R | c.529-17_529-5dup (n.529-17_529-5dup) c.492-17_492-5dup (n.492-17_492-5dup) c.653-17_653-5dup (n.653-17_653-5dup) c.492-12681_492-12669dup (n.492-12681_492-12669dup) c.652+5996_652+6008dup (n.652+5996_652+6008dup) c.491+23934_491+23946dup (n.491+23934_491+23946dup) c.582-17_582-5dup (n.582-17_582-5dup) c.647+5996_647+6008dup (n.647+5996_647+6008dup) c.648-17_648-5dup (n.648-17_648-5dup) c.44-17_44-5dup (n.44-17_44-5dup) c.-104+24949_-104+24961dup (n.-104+24949_-104+24961dup) c.-110-17_-110-5dup (n.-110-17_-110-5dup) c.743-17_743-5dup (n.743-17_743-5dup) n.836-17_836-5dup | gnomAD v3 gnomAD v4 |
1 | g.67206892_67206905dup | CA1002751736 | C1orf141,IL23R | c.529-18_529-5dup (n.529-18_529-5dup) c.492-18_492-5dup (n.492-18_492-5dup) c.653-18_653-5dup (n.653-18_653-5dup) c.492-12682_492-12669dup (n.492-12682_492-12669dup) c.652+5995_652+6008dup (n.652+5995_652+6008dup) c.491+23933_491+23946dup (n.491+23933_491+23946dup) c.582-18_582-5dup (n.582-18_582-5dup) c.647+5995_647+6008dup (n.647+5995_647+6008dup) c.648-18_648-5dup (n.648-18_648-5dup) c.44-18_44-5dup (n.44-18_44-5dup) c.-104+24948_-104+24961dup (n.-104+24948_-104+24961dup) c.-110-18_-110-5dup (n.-110-18_-110-5dup) c.743-18_743-5dup (n.743-18_743-5dup) n.836-18_836-5dup | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206891_67206905dup | CA1002751727 | C1orf141,IL23R | c.529-19_529-5dup (n.529-19_529-5dup) c.492-19_492-5dup (n.492-19_492-5dup) c.653-19_653-5dup (n.653-19_653-5dup) c.492-12683_492-12669dup (n.492-12683_492-12669dup) c.652+5994_652+6008dup (n.652+5994_652+6008dup) c.491+23932_491+23946dup (n.491+23932_491+23946dup) c.582-19_582-5dup (n.582-19_582-5dup) c.647+5994_647+6008dup (n.647+5994_647+6008dup) c.648-19_648-5dup (n.648-19_648-5dup) c.44-19_44-5dup (n.44-19_44-5dup) c.-104+24947_-104+24961dup (n.-104+24947_-104+24961dup) c.-110-19_-110-5dup (n.-110-19_-110-5dup) c.743-19_743-5dup (n.743-19_743-5dup) n.836-19_836-5dup | gnomAD v3 gnomAD v4 |
1 | g.67206890_67206905dup | CA1002751712 | C1orf141,IL23R | c.529-20_529-5dup (n.529-20_529-5dup) c.492-20_492-5dup (n.492-20_492-5dup) c.653-20_653-5dup (n.653-20_653-5dup) c.492-12684_492-12669dup (n.492-12684_492-12669dup) c.652+5993_652+6008dup (n.652+5993_652+6008dup) c.491+23931_491+23946dup (n.491+23931_491+23946dup) c.582-20_582-5dup (n.582-20_582-5dup) c.647+5993_647+6008dup (n.647+5993_647+6008dup) c.648-20_648-5dup (n.648-20_648-5dup) c.44-20_44-5dup (n.44-20_44-5dup) c.-104+24946_-104+24961dup (n.-104+24946_-104+24961dup) c.-110-20_-110-5dup (n.-110-20_-110-5dup) c.743-20_743-5dup (n.743-20_743-5dup) n.836-20_836-5dup | gnomAD v3 gnomAD v4 |
1 | g.67206889_67206905dup | CA1002751720 | C1orf141,IL23R | c.529-21_529-5dup (n.529-21_529-5dup) c.492-21_492-5dup (n.492-21_492-5dup) c.653-21_653-5dup (n.653-21_653-5dup) c.492-12685_492-12669dup (n.492-12685_492-12669dup) c.652+5992_652+6008dup (n.652+5992_652+6008dup) c.491+23930_491+23946dup (n.491+23930_491+23946dup) c.582-21_582-5dup (n.582-21_582-5dup) c.647+5992_647+6008dup (n.647+5992_647+6008dup) c.648-21_648-5dup (n.648-21_648-5dup) c.44-21_44-5dup (n.44-21_44-5dup) c.-104+24945_-104+24961dup (n.-104+24945_-104+24961dup) c.-110-21_-110-5dup (n.-110-21_-110-5dup) c.743-21_743-5dup (n.743-21_743-5dup) n.836-21_836-5dup | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206888_67206905dup | CA1002751707 | C1orf141,IL23R | c.529-22_529-5dup (n.529-22_529-5dup) c.492-22_492-5dup (n.492-22_492-5dup) c.653-22_653-5dup (n.653-22_653-5dup) c.492-12686_492-12669dup (n.492-12686_492-12669dup) c.652+5991_652+6008dup (n.652+5991_652+6008dup) c.491+23929_491+23946dup (n.491+23929_491+23946dup) c.582-22_582-5dup (n.582-22_582-5dup) c.647+5991_647+6008dup (n.647+5991_647+6008dup) c.648-22_648-5dup (n.648-22_648-5dup) c.44-22_44-5dup (n.44-22_44-5dup) c.-104+24944_-104+24961dup (n.-104+24944_-104+24961dup) c.-110-22_-110-5dup (n.-110-22_-110-5dup) c.743-22_743-5dup (n.743-22_743-5dup) n.836-22_836-5dup | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206887_67206905dup | CA1002751705 | C1orf141,IL23R | c.529-23_529-5dup (n.529-23_529-5dup) c.492-23_492-5dup (n.492-23_492-5dup) c.653-23_653-5dup (n.653-23_653-5dup) c.492-12687_492-12669dup (n.492-12687_492-12669dup) c.652+5990_652+6008dup (n.652+5990_652+6008dup) c.491+23928_491+23946dup (n.491+23928_491+23946dup) c.582-23_582-5dup (n.582-23_582-5dup) c.647+5990_647+6008dup (n.647+5990_647+6008dup) c.648-23_648-5dup (n.648-23_648-5dup) c.44-23_44-5dup (n.44-23_44-5dup) c.-104+24943_-104+24961dup (n.-104+24943_-104+24961dup) c.-110-23_-110-5dup (n.-110-23_-110-5dup) c.743-23_743-5dup (n.743-23_743-5dup) n.836-23_836-5dup | gnomAD v3 gnomAD v4 |
1 | g.67206886_67206905dup | CA1002751704 | C1orf141,IL23R | c.529-24_529-5dup (n.529-24_529-5dup) c.492-24_492-5dup (n.492-24_492-5dup) c.653-24_653-5dup (n.653-24_653-5dup) c.492-12688_492-12669dup (n.492-12688_492-12669dup) c.652+5989_652+6008dup (n.652+5989_652+6008dup) c.491+23927_491+23946dup (n.491+23927_491+23946dup) c.582-24_582-5dup (n.582-24_582-5dup) c.647+5989_647+6008dup (n.647+5989_647+6008dup) c.648-24_648-5dup (n.648-24_648-5dup) c.44-24_44-5dup (n.44-24_44-5dup) c.-104+24942_-104+24961dup (n.-104+24942_-104+24961dup) c.-110-24_-110-5dup (n.-110-24_-110-5dup) c.743-24_743-5dup (n.743-24_743-5dup) n.836-24_836-5dup | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206885_67206905dup | CA1002751703 | C1orf141,IL23R | c.529-25_529-5dup (n.529-25_529-5dup) c.492-25_492-5dup (n.492-25_492-5dup) c.653-25_653-5dup (n.653-25_653-5dup) c.492-12689_492-12669dup (n.492-12689_492-12669dup) c.652+5988_652+6008dup (n.652+5988_652+6008dup) c.491+23926_491+23946dup (n.491+23926_491+23946dup) c.582-25_582-5dup (n.582-25_582-5dup) c.647+5988_647+6008dup (n.647+5988_647+6008dup) c.648-25_648-5dup (n.648-25_648-5dup) c.44-25_44-5dup (n.44-25_44-5dup) c.-104+24941_-104+24961dup (n.-104+24941_-104+24961dup) c.-110-25_-110-5dup (n.-110-25_-110-5dup) c.743-25_743-5dup (n.743-25_743-5dup) n.836-25_836-5dup | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206905del | CA899784 | C1orf141,IL23R | c.529-5del (n.529-5del) c.492-5del (n.492-5del) c.653-5del (n.653-5del) c.492-12669del (n.492-12669del) c.652+6008del (n.652+6008del) c.491+23946del (n.491+23946del) c.582-5del (n.582-5del) c.647+6008del (n.647+6008del) c.648-5del (n.648-5del) c.44-5del (n.44-5del) c.-104+24961del (n.-104+24961del) c.-110-5del (n.-110-5del) c.743-5del (n.743-5del) n.836-5del | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.67206904_67206905del | CA738053308 | C1orf141,IL23R | c.529-6_529-5del (n.529-6_529-5del) c.492-6_492-5del (n.492-6_492-5del) c.653-6_653-5del (n.653-6_653-5del) c.492-12670_492-12669del (n.492-12670_492-12669del) c.652+6007_652+6008del (n.652+6007_652+6008del) c.491+23945_491+23946del (n.491+23945_491+23946del) c.582-6_582-5del (n.582-6_582-5del) c.647+6007_647+6008del (n.647+6007_647+6008del) c.648-6_648-5del (n.648-6_648-5del) c.44-6_44-5del (n.44-6_44-5del) c.-104+24960_-104+24961del (n.-104+24960_-104+24961del) c.-110-6_-110-5del (n.-110-6_-110-5del) c.743-6_743-5del (n.743-6_743-5del) n.836-6_836-5del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206903_67206905del | CA899783 | C1orf141,IL23R | c.529-7_529-5del (n.529-7_529-5del) c.492-7_492-5del (n.492-7_492-5del) c.653-7_653-5del (n.653-7_653-5del) c.492-12671_492-12669del (n.492-12671_492-12669del) c.652+6006_652+6008del (n.652+6006_652+6008del) c.491+23944_491+23946del (n.491+23944_491+23946del) c.582-7_582-5del (n.582-7_582-5del) c.647+6006_647+6008del (n.647+6006_647+6008del) c.648-7_648-5del (n.648-7_648-5del) c.44-7_44-5del (n.44-7_44-5del) c.-104+24959_-104+24961del (n.-104+24959_-104+24961del) c.-110-7_-110-5del (n.-110-7_-110-5del) c.743-7_743-5del (n.743-7_743-5del) n.836-7_836-5del | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.67206902_67206905del | CA1002751644 | C1orf141,IL23R | c.529-8_529-5del (n.529-8_529-5del) c.492-8_492-5del (n.492-8_492-5del) c.653-8_653-5del (n.653-8_653-5del) c.492-12672_492-12669del (n.492-12672_492-12669del) c.652+6005_652+6008del (n.652+6005_652+6008del) c.491+23943_491+23946del (n.491+23943_491+23946del) c.582-8_582-5del (n.582-8_582-5del) c.647+6005_647+6008del (n.647+6005_647+6008del) c.648-8_648-5del (n.648-8_648-5del) c.44-8_44-5del (n.44-8_44-5del) c.-104+24958_-104+24961del (n.-104+24958_-104+24961del) c.-110-8_-110-5del (n.-110-8_-110-5del) c.743-8_743-5del (n.743-8_743-5del) n.836-8_836-5del | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206901_67206905del | CA738053306 | C1orf141,IL23R | c.529-9_529-5del (n.529-9_529-5del) c.492-9_492-5del (n.492-9_492-5del) c.653-9_653-5del (n.653-9_653-5del) c.492-12673_492-12669del (n.492-12673_492-12669del) c.652+6004_652+6008del (n.652+6004_652+6008del) c.491+23942_491+23946del (n.491+23942_491+23946del) c.582-9_582-5del (n.582-9_582-5del) c.647+6004_647+6008del (n.647+6004_647+6008del) c.648-9_648-5del (n.648-9_648-5del) c.44-9_44-5del (n.44-9_44-5del) c.-104+24957_-104+24961del (n.-104+24957_-104+24961del) c.-110-9_-110-5del (n.-110-9_-110-5del) c.743-9_743-5del (n.743-9_743-5del) n.836-9_836-5del | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206900_67206905del | CA23532438 | C1orf141,IL23R | c.529-10_529-5del (n.529-10_529-5del) c.492-10_492-5del (n.492-10_492-5del) c.653-10_653-5del (n.653-10_653-5del) c.492-12674_492-12669del (n.492-12674_492-12669del) c.652+6003_652+6008del (n.652+6003_652+6008del) c.491+23941_491+23946del (n.491+23941_491+23946del) c.582-10_582-5del (n.582-10_582-5del) c.647+6003_647+6008del (n.647+6003_647+6008del) c.648-10_648-5del (n.648-10_648-5del) c.44-10_44-5del (n.44-10_44-5del) c.-104+24956_-104+24961del (n.-104+24956_-104+24961del) c.-110-10_-110-5del (n.-110-10_-110-5del) c.743-10_743-5del (n.743-10_743-5del) n.836-10_836-5del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206899_67206905del | CA1173042411 | C1orf141,IL23R | c.529-11_529-5del (n.529-11_529-5del) c.492-11_492-5del (n.492-11_492-5del) c.653-11_653-5del (n.653-11_653-5del) c.492-12675_492-12669del (n.492-12675_492-12669del) c.652+6002_652+6008del (n.652+6002_652+6008del) c.491+23940_491+23946del (n.491+23940_491+23946del) c.582-11_582-5del (n.582-11_582-5del) c.647+6002_647+6008del (n.647+6002_647+6008del) c.648-11_648-5del (n.648-11_648-5del) c.44-11_44-5del (n.44-11_44-5del) c.-104+24955_-104+24961del (n.-104+24955_-104+24961del) c.-110-11_-110-5del (n.-110-11_-110-5del) c.743-11_743-5del (n.743-11_743-5del) n.836-11_836-5del | dbSNP gnomAD v4 |
1 | g.67206898_67206905del | CA2574401326 | C1orf141,IL23R | c.529-12_529-5del (n.529-12_529-5del) c.492-12_492-5del (n.492-12_492-5del) c.653-12_653-5del (n.653-12_653-5del) c.492-12676_492-12669del (n.492-12676_492-12669del) c.652+6001_652+6008del (n.652+6001_652+6008del) c.491+23939_491+23946del (n.491+23939_491+23946del) c.582-12_582-5del (n.582-12_582-5del) c.647+6001_647+6008del (n.647+6001_647+6008del) c.648-12_648-5del (n.648-12_648-5del) c.44-12_44-5del (n.44-12_44-5del) c.-104+24954_-104+24961del (n.-104+24954_-104+24961del) c.-110-12_-110-5del (n.-110-12_-110-5del) c.743-12_743-5del (n.743-12_743-5del) n.836-12_836-5del | gnomAD v4 |
1 | g.67206897_67206905del | CA23532462 | C1orf141,IL23R | c.529-13_529-5del (n.529-13_529-5del) c.492-13_492-5del (n.492-13_492-5del) c.653-13_653-5del (n.653-13_653-5del) c.492-12677_492-12669del (n.492-12677_492-12669del) c.652+6000_652+6008del (n.652+6000_652+6008del) c.491+23938_491+23946del (n.491+23938_491+23946del) c.582-13_582-5del (n.582-13_582-5del) c.647+6000_647+6008del (n.647+6000_647+6008del) c.648-13_648-5del (n.648-13_648-5del) c.44-13_44-5del (n.44-13_44-5del) c.-104+24953_-104+24961del (n.-104+24953_-104+24961del) c.-110-13_-110-5del (n.-110-13_-110-5del) c.743-13_743-5del (n.743-13_743-5del) n.836-13_836-5del | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206896_67206905del | CA1002751651 | C1orf141,IL23R | c.529-14_529-5del (n.529-14_529-5del) c.492-14_492-5del (n.492-14_492-5del) c.653-14_653-5del (n.653-14_653-5del) c.492-12678_492-12669del (n.492-12678_492-12669del) c.652+5999_652+6008del (n.652+5999_652+6008del) c.491+23937_491+23946del (n.491+23937_491+23946del) c.582-14_582-5del (n.582-14_582-5del) c.647+5999_647+6008del (n.647+5999_647+6008del) c.648-14_648-5del (n.648-14_648-5del) c.44-14_44-5del (n.44-14_44-5del) c.-104+24952_-104+24961del (n.-104+24952_-104+24961del) c.-110-14_-110-5del (n.-110-14_-110-5del) c.743-14_743-5del (n.743-14_743-5del) n.836-14_836-5del | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206895_67206905del | CA738053312 | C1orf141,IL23R | c.529-15_529-5del (n.529-15_529-5del) c.492-15_492-5del (n.492-15_492-5del) c.653-15_653-5del (n.653-15_653-5del) c.492-12679_492-12669del (n.492-12679_492-12669del) c.652+5998_652+6008del (n.652+5998_652+6008del) c.491+23936_491+23946del (n.491+23936_491+23946del) c.582-15_582-5del (n.582-15_582-5del) c.647+5998_647+6008del (n.647+5998_647+6008del) c.648-15_648-5del (n.648-15_648-5del) c.44-15_44-5del (n.44-15_44-5del) c.-104+24951_-104+24961del (n.-104+24951_-104+24961del) c.-110-15_-110-5del (n.-110-15_-110-5del) c.743-15_743-5del (n.743-15_743-5del) n.836-15_836-5del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206894_67206905del | CA2646124313 | C1orf141,IL23R | c.529-16_529-5del (n.529-16_529-5del) c.492-16_492-5del (n.492-16_492-5del) c.653-16_653-5del (n.653-16_653-5del) c.492-12680_492-12669del (n.492-12680_492-12669del) c.652+5997_652+6008del (n.652+5997_652+6008del) c.491+23935_491+23946del (n.491+23935_491+23946del) c.582-16_582-5del (n.582-16_582-5del) c.647+5997_647+6008del (n.647+5997_647+6008del) c.648-16_648-5del (n.648-16_648-5del) c.44-16_44-5del (n.44-16_44-5del) c.-104+24950_-104+24961del (n.-104+24950_-104+24961del) c.-110-16_-110-5del (n.-110-16_-110-5del) c.743-16_743-5del (n.743-16_743-5del) n.836-16_836-5del | gnomAD v4 |
1 | g.67206905_67206906insTTTTTGTTTTTTTTTTTTTTTTTTTT | CA2646124320 | C1orf141,IL23R | c.529-5_529-4insTTTTTGTTTTTTTTTTTTTTTTTTTT (n.529-5_529-4insTTTTTGTTTTTTTTTTTTTTTTTTTT) c.492-5_492-4insTTTTTGTTTTTTTTTTTTTTTTTTTT (n.492-5_492-4insTTTTTGTTTTTTTTTTTTTTTTTTTT) c.653-5_653-4insTTTTTGTTTTTTTTTTTTTTTTTTTT (n.653-5_653-4insTTTTTGTTTTTTTTTTTTTTTTTTTT) c.492-12669_492-12668insTTTTTGTTTTTTTTTTTTTTTTTTTT (n.492-12669_492-12668insTTTTTGTTTTTTTTTTTTTTTTTTTT) c.652+6008_652+6009insTTTTTGTTTTTTTTTTTTTTTTTTTT (n.652+6008_652+6009insTTTTTGTTTTTTTTTTTTTTTTTTTT) c.491+23946_491+23947insTTTTTGTTTTTTTTTTTTTTTTTTTT (n.491+23946_491+23947insTTTTTGTTTTTTTTTTTTTTTTTTTT) c.582-5_582-4insTTTTTGTTTTTTTTTTTTTTTTTTTT (n.582-5_582-4insTTTTTGTTTTTTTTTTTTTTTTTTTT) c.647+6008_647+6009insTTTTTGTTTTTTTTTTTTTTTTTTTT (n.647+6008_647+6009insTTTTTGTTTTTTTTTTTTTTTTTTTT) c.648-5_648-4insTTTTTGTTTTTTTTTTTTTTTTTTTT (n.648-5_648-4insTTTTTGTTTTTTTTTTTTTTTTTTTT) c.44-5_44-4insTTTTTGTTTTTTTTTTTTTTTTTTTT (n.44-5_44-4insTTTTTGTTTTTTTTTTTTTTTTTTTT) c.-104+24960_-104+24961insCAAAAAAAAAAAAAAAAAAAAAAAAA (n.-104+24960_-104+24961insCAAAAAAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTGTTTTTTTTTTTTTTTTTTTT (n.-110-5_-110-4insTTTTTGTTTTTTTTTTTTTTTTTTTT) c.743-5_743-4insTTTTTGTTTTTTTTTTTTTTTTTTTT (n.743-5_743-4insTTTTTGTTTTTTTTTTTTTTTTTTTT) n.836-5_836-4insTTTTTGTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
1 | g.67206892_67206918del | CA2646124332 | C1orf141,IL23R | c.529-18_537del c.492-18_500del c.653-18_661del c.492-12682_492-12656del (n.492-12682_492-12656del) c.652+5995_652+6021del (n.652+5995_652+6021del) c.491+23933_491+23959del (n.491+23933_491+23959del) c.582-18_590del c.647+5995_647+6021del (n.647+5995_647+6021del) c.648-18_656del c.44-18_52del c.-104+24930_-104+24956del (n.-104+24930_-104+24956del) c.-110-18_-102del c.743-18_751del n.836-18_844del | gnomAD v4 |
1 | g.67206892T>C | CA2646124336 | C1orf141,IL23R | c.529-18T>C (n.529-18T>C) c.492-18T>C (n.492-18T>C) c.653-18T>C (n.653-18T>C) c.492-12682T>C (n.492-12682T>C) c.652+5995T>C (n.652+5995T>C) c.491+23933T>C (n.491+23933T>C) c.582-18T>C (n.582-18T>C) c.647+5995T>C (n.647+5995T>C) c.648-18T>C (n.648-18T>C) c.44-18T>C (n.44-18T>C) c.-104+24954A>G (n.-104+24954A>G) c.-110-18T>C (n.-110-18T>C) c.743-18T>C (n.743-18T>C) n.836-18T>C | gnomAD v4 |
1 | g.67206892T= | CA1173042414 | C1orf141,IL23R | c.529-18T= (n.529-18T=) c.492-18T= (n.492-18T=) c.653-18T= (n.653-18T=) c.492-12682T= (n.492-12682T=) c.652+5995T= (n.652+5995T=) c.491+23933T= (n.491+23933T=) c.582-18T= (n.582-18T=) c.647+5995T= (n.647+5995T=) c.648-18T= (n.648-18T=) c.44-18T= (n.44-18T=) c.-104+24954A= (n.-104+24954A=) c.-110-18T= (n.-110-18T=) c.743-18T= (n.743-18T=) n.836-18T= | |
1 | g.67206893T>C | CA2646124337 | C1orf141,IL23R | c.529-17T>C (n.529-17T>C) c.492-17T>C (n.492-17T>C) c.653-17T>C (n.653-17T>C) c.492-12681T>C (n.492-12681T>C) c.652+5996T>C (n.652+5996T>C) c.491+23934T>C (n.491+23934T>C) c.582-17T>C (n.582-17T>C) c.647+5996T>C (n.647+5996T>C) c.648-17T>C (n.648-17T>C) c.44-17T>C (n.44-17T>C) c.-104+24953A>G (n.-104+24953A>G) c.-110-17T>C (n.-110-17T>C) c.743-17T>C (n.743-17T>C) n.836-17T>C | gnomAD v4 |
1 | g.67206893_67206894insGT | CA1173042415 | C1orf141,IL23R | c.529-17_529-16insGT (n.529-17_529-16insGT) c.492-17_492-16insGT (n.492-17_492-16insGT) c.653-17_653-16insGT (n.653-17_653-16insGT) c.492-12681_492-12680insGT (n.492-12681_492-12680insGT) c.652+5996_652+5997insGT (n.652+5996_652+5997insGT) c.491+23934_491+23935insGT (n.491+23934_491+23935insGT) c.582-17_582-16insGT (n.582-17_582-16insGT) c.647+5996_647+5997insGT (n.647+5996_647+5997insGT) c.648-17_648-16insGT (n.648-17_648-16insGT) c.44-17_44-16insGT (n.44-17_44-16insGT) c.-104+24953_-104+24954insCA (n.-104+24953_-104+24954insCA) c.-110-17_-110-16insGT (n.-110-17_-110-16insGT) c.743-17_743-16insGT (n.743-17_743-16insGT) n.836-17_836-16insGT | dbSNP |
1 | g.67206893_67206894insC | CA2646124338 | C1orf141,IL23R | c.529-17_529-16insC (n.529-17_529-16insC) c.492-17_492-16insC (n.492-17_492-16insC) c.653-17_653-16insC (n.653-17_653-16insC) c.492-12681_492-12680insC (n.492-12681_492-12680insC) c.652+5996_652+5997insC (n.652+5996_652+5997insC) c.491+23934_491+23935insC (n.491+23934_491+23935insC) c.582-17_582-16insC (n.582-17_582-16insC) c.647+5996_647+5997insC (n.647+5996_647+5997insC) c.648-17_648-16insC (n.648-17_648-16insC) c.44-17_44-16insC (n.44-17_44-16insC) c.-104+24952_-104+24953insG (n.-104+24952_-104+24953insG) c.-110-17_-110-16insC (n.-110-17_-110-16insC) c.743-17_743-16insC (n.743-17_743-16insC) n.836-17_836-16insC | gnomAD v4 |
1 | g.67206894T>C | CA2646124339 | C1orf141,IL23R | c.529-16T>C (n.529-16T>C) c.492-16T>C (n.492-16T>C) c.653-16T>C (n.653-16T>C) c.492-12680T>C (n.492-12680T>C) c.652+5997T>C (n.652+5997T>C) c.491+23935T>C (n.491+23935T>C) c.582-16T>C (n.582-16T>C) c.647+5997T>C (n.647+5997T>C) c.648-16T>C (n.648-16T>C) c.44-16T>C (n.44-16T>C) c.-104+24952A>G (n.-104+24952A>G) c.-110-16T>C (n.-110-16T>C) c.743-16T>C (n.743-16T>C) n.836-16T>C | gnomAD v4 |
1 | g.67206894_67206895insA | CA2574401329 | C1orf141,IL23R | c.529-16_529-15insA (n.529-16_529-15insA) c.492-16_492-15insA (n.492-16_492-15insA) c.653-16_653-15insA (n.653-16_653-15insA) c.492-12680_492-12679insA (n.492-12680_492-12679insA) c.652+5997_652+5998insA (n.652+5997_652+5998insA) c.491+23935_491+23936insA (n.491+23935_491+23936insA) c.582-16_582-15insA (n.582-16_582-15insA) c.647+5997_647+5998insA (n.647+5997_647+5998insA) c.648-16_648-15insA (n.648-16_648-15insA) c.44-16_44-15insA (n.44-16_44-15insA) c.-104+24951_-104+24952insT (n.-104+24951_-104+24952insT) c.-110-16_-110-15insA (n.-110-16_-110-15insA) c.743-16_743-15insA (n.743-16_743-15insA) n.836-16_836-15insA | |
1 | g.67206894_67206895insC | CA2646124340 | C1orf141,IL23R | c.529-16_529-15insC (n.529-16_529-15insC) c.492-16_492-15insC (n.492-16_492-15insC) c.653-16_653-15insC (n.653-16_653-15insC) c.492-12680_492-12679insC (n.492-12680_492-12679insC) c.652+5997_652+5998insC (n.652+5997_652+5998insC) c.491+23935_491+23936insC (n.491+23935_491+23936insC) c.582-16_582-15insC (n.582-16_582-15insC) c.647+5997_647+5998insC (n.647+5997_647+5998insC) c.648-16_648-15insC (n.648-16_648-15insC) c.44-16_44-15insC (n.44-16_44-15insC) c.-104+24951_-104+24952insG (n.-104+24951_-104+24952insG) c.-110-16_-110-15insC (n.-110-16_-110-15insC) c.743-16_743-15insC (n.743-16_743-15insC) n.836-16_836-15insC | gnomAD v4 |
1 | g.67206895T>A | CA2646124341 | C1orf141,IL23R | c.529-15T>A (n.529-15T>A) c.492-15T>A (n.492-15T>A) c.653-15T>A (n.653-15T>A) c.492-12679T>A (n.492-12679T>A) c.652+5998T>A (n.652+5998T>A) c.491+23936T>A (n.491+23936T>A) c.582-15T>A (n.582-15T>A) c.647+5998T>A (n.647+5998T>A) c.648-15T>A (n.648-15T>A) c.44-15T>A (n.44-15T>A) c.-104+24951A>T (n.-104+24951A>T) c.-110-15T>A (n.-110-15T>A) c.743-15T>A (n.743-15T>A) n.836-15T>A | gnomAD v4 |
1 | g.67206895T>C | CA2646124342 | C1orf141,IL23R | c.529-15T>C (n.529-15T>C) c.492-15T>C (n.492-15T>C) c.653-15T>C (n.653-15T>C) c.492-12679T>C (n.492-12679T>C) c.652+5998T>C (n.652+5998T>C) c.491+23936T>C (n.491+23936T>C) c.582-15T>C (n.582-15T>C) c.647+5998T>C (n.647+5998T>C) c.648-15T>C (n.648-15T>C) c.44-15T>C (n.44-15T>C) c.-104+24951A>G (n.-104+24951A>G) c.-110-15T>C (n.-110-15T>C) c.743-15T>C (n.743-15T>C) n.836-15T>C | gnomAD v4 |
1 | g.67206895_67206896insC | CA2646124343 | C1orf141,IL23R | c.529-15_529-14insC (n.529-15_529-14insC) c.492-15_492-14insC (n.492-15_492-14insC) c.653-15_653-14insC (n.653-15_653-14insC) c.492-12679_492-12678insC (n.492-12679_492-12678insC) c.652+5998_652+5999insC (n.652+5998_652+5999insC) c.491+23936_491+23937insC (n.491+23936_491+23937insC) c.582-15_582-14insC (n.582-15_582-14insC) c.647+5998_647+5999insC (n.647+5998_647+5999insC) c.648-15_648-14insC (n.648-15_648-14insC) c.44-15_44-14insC (n.44-15_44-14insC) c.-104+24950_-104+24951insG (n.-104+24950_-104+24951insG) c.-110-15_-110-14insC (n.-110-15_-110-14insC) c.743-15_743-14insC (n.743-15_743-14insC) n.836-15_836-14insC | gnomAD v4 |
1 | g.67206896T>C | CA2646124344 | C1orf141,IL23R | c.529-14T>C (n.529-14T>C) c.492-14T>C (n.492-14T>C) c.653-14T>C (n.653-14T>C) c.492-12678T>C (n.492-12678T>C) c.652+5999T>C (n.652+5999T>C) c.491+23937T>C (n.491+23937T>C) c.582-14T>C (n.582-14T>C) c.647+5999T>C (n.647+5999T>C) c.648-14T>C (n.648-14T>C) c.44-14T>C (n.44-14T>C) c.-104+24950A>G (n.-104+24950A>G) c.-110-14T>C (n.-110-14T>C) c.743-14T>C (n.743-14T>C) n.836-14T>C | gnomAD v4 |
1 | g.67206897T>A | CA2743978237 | C1orf141,IL23R | c.529-13T>A (n.529-13T>A) c.492-13T>A (n.492-13T>A) c.653-13T>A (n.653-13T>A) c.492-12677T>A (n.492-12677T>A) c.652+6000T>A (n.652+6000T>A) c.491+23938T>A (n.491+23938T>A) c.582-13T>A (n.582-13T>A) c.647+6000T>A (n.647+6000T>A) c.648-13T>A (n.648-13T>A) c.44-13T>A (n.44-13T>A) c.-104+24949A>T (n.-104+24949A>T) c.-110-13T>A (n.-110-13T>A) c.743-13T>A (n.743-13T>A) n.836-13T>A | |
1 | g.67206897T>C | CA2646124345 | C1orf141,IL23R | c.529-13T>C (n.529-13T>C) c.492-13T>C (n.492-13T>C) c.653-13T>C (n.653-13T>C) c.492-12677T>C (n.492-12677T>C) c.652+6000T>C (n.652+6000T>C) c.491+23938T>C (n.491+23938T>C) c.582-13T>C (n.582-13T>C) c.647+6000T>C (n.647+6000T>C) c.648-13T>C (n.648-13T>C) c.44-13T>C (n.44-13T>C) c.-104+24949A>G (n.-104+24949A>G) c.-110-13T>C (n.-110-13T>C) c.743-13T>C (n.743-13T>C) n.836-13T>C | gnomAD v4 |
1 | g.67206897_67206898insC | CA2646124346 | C1orf141,IL23R | c.529-13_529-12insC (n.529-13_529-12insC) c.492-13_492-12insC (n.492-13_492-12insC) c.653-13_653-12insC (n.653-13_653-12insC) c.492-12677_492-12676insC (n.492-12677_492-12676insC) c.652+6000_652+6001insC (n.652+6000_652+6001insC) c.491+23938_491+23939insC (n.491+23938_491+23939insC) c.582-13_582-12insC (n.582-13_582-12insC) c.647+6000_647+6001insC (n.647+6000_647+6001insC) c.648-13_648-12insC (n.648-13_648-12insC) c.44-13_44-12insC (n.44-13_44-12insC) c.-104+24948_-104+24949insG (n.-104+24948_-104+24949insG) c.-110-13_-110-12insC (n.-110-13_-110-12insC) c.743-13_743-12insC (n.743-13_743-12insC) n.836-13_836-12insC | gnomAD v4 |
1 | g.67206898T>C | CA2646124347 | C1orf141,IL23R | c.529-12T>C (n.529-12T>C) c.492-12T>C (n.492-12T>C) c.653-12T>C (n.653-12T>C) c.492-12676T>C (n.492-12676T>C) c.652+6001T>C (n.652+6001T>C) c.491+23939T>C (n.491+23939T>C) c.582-12T>C (n.582-12T>C) c.647+6001T>C (n.647+6001T>C) c.648-12T>C (n.648-12T>C) c.44-12T>C (n.44-12T>C) c.-104+24948A>G (n.-104+24948A>G) c.-110-12T>C (n.-110-12T>C) c.743-12T>C (n.743-12T>C) n.836-12T>C | gnomAD v4 |
1 | g.67206898_67206899insC | CA2552894136 | C1orf141,IL23R | c.529-12_529-11insC (n.529-12_529-11insC) c.492-12_492-11insC (n.492-12_492-11insC) c.653-12_653-11insC (n.653-12_653-11insC) c.492-12676_492-12675insC (n.492-12676_492-12675insC) c.652+6001_652+6002insC (n.652+6001_652+6002insC) c.491+23939_491+23940insC (n.491+23939_491+23940insC) c.582-12_582-11insC (n.582-12_582-11insC) c.647+6001_647+6002insC (n.647+6001_647+6002insC) c.648-12_648-11insC (n.648-12_648-11insC) c.44-12_44-11insC (n.44-12_44-11insC) c.-104+24947_-104+24948insG (n.-104+24947_-104+24948insG) c.-110-12_-110-11insC (n.-110-12_-110-11insC) c.743-12_743-11insC (n.743-12_743-11insC) n.836-12_836-11insC | |
1 | g.67206899T>C | CA2646124348 | C1orf141,IL23R | c.529-11T>C (n.529-11T>C) c.492-11T>C (n.492-11T>C) c.653-11T>C (n.653-11T>C) c.492-12675T>C (n.492-12675T>C) c.652+6002T>C (n.652+6002T>C) c.491+23940T>C (n.491+23940T>C) c.582-11T>C (n.582-11T>C) c.647+6002T>C (n.647+6002T>C) c.648-11T>C (n.648-11T>C) c.44-11T>C (n.44-11T>C) c.-104+24947A>G (n.-104+24947A>G) c.-110-11T>C (n.-110-11T>C) c.743-11T>C (n.743-11T>C) n.836-11T>C | gnomAD v4 |
1 | g.67206899_67206900insC | CA2646124349 | C1orf141,IL23R | c.529-11_529-10insC (n.529-11_529-10insC) c.492-11_492-10insC (n.492-11_492-10insC) c.653-11_653-10insC (n.653-11_653-10insC) c.492-12675_492-12674insC (n.492-12675_492-12674insC) c.652+6002_652+6003insC (n.652+6002_652+6003insC) c.491+23940_491+23941insC (n.491+23940_491+23941insC) c.582-11_582-10insC (n.582-11_582-10insC) c.647+6002_647+6003insC (n.647+6002_647+6003insC) c.648-11_648-10insC (n.648-11_648-10insC) c.44-11_44-10insC (n.44-11_44-10insC) c.-104+24946_-104+24947insG (n.-104+24946_-104+24947insG) c.-110-11_-110-10insC (n.-110-11_-110-10insC) c.743-11_743-10insC (n.743-11_743-10insC) n.836-11_836-10insC | gnomAD v4 |
1 | g.67206900T>C | CA2646124350 | C1orf141,IL23R | c.529-10T>C (n.529-10T>C) c.492-10T>C (n.492-10T>C) c.653-10T>C (n.653-10T>C) c.492-12674T>C (n.492-12674T>C) c.652+6003T>C (n.652+6003T>C) c.491+23941T>C (n.491+23941T>C) c.582-10T>C (n.582-10T>C) c.647+6003T>C (n.647+6003T>C) c.648-10T>C (n.648-10T>C) c.44-10T>C (n.44-10T>C) c.-104+24946A>G (n.-104+24946A>G) c.-110-10T>C (n.-110-10T>C) c.743-10T>C (n.743-10T>C) n.836-10T>C | gnomAD v4 |
1 | g.67206902T>C | CA23532476 | C1orf141,IL23R | c.529-8T>C (n.529-8T>C) c.492-8T>C (n.492-8T>C) c.653-8T>C (n.653-8T>C) c.492-12672T>C (n.492-12672T>C) c.652+6005T>C (n.652+6005T>C) c.491+23943T>C (n.491+23943T>C) c.582-8T>C (n.582-8T>C) c.647+6005T>C (n.647+6005T>C) c.648-8T>C (n.648-8T>C) c.44-8T>C (n.44-8T>C) c.-104+24944A>G (n.-104+24944A>G) c.-110-8T>C (n.-110-8T>C) c.743-8T>C (n.743-8T>C) n.836-8T>C | ClinVar dbSNP gnomAD v4 |
1 | g.67206902T= | CA1141122168 | C1orf141,IL23R | c.529-8T= (n.529-8T=) c.492-8T= (n.492-8T=) c.653-8T= (n.653-8T=) c.492-12672T= (n.492-12672T=) c.652+6005T= (n.652+6005T=) c.491+23943T= (n.491+23943T=) c.582-8T= (n.582-8T=) c.647+6005T= (n.647+6005T=) c.648-8T= (n.648-8T=) c.44-8T= (n.44-8T=) c.-104+24944A= (n.-104+24944A=) c.-110-8T= (n.-110-8T=) c.743-8T= (n.743-8T=) n.836-8T= | |
1 | g.67206903_67206907del | CA2646124351 | C1orf141,IL23R | c.529-7_529-3del (n.529-7_529-3del) c.492-7_492-3del (n.492-7_492-3del) c.653-7_653-3del (n.653-7_653-3del) c.492-12671_492-12667del (n.492-12671_492-12667del) c.652+6006_652+6010del (n.652+6006_652+6010del) c.491+23944_491+23948del (n.491+23944_491+23948del) c.582-7_582-3del (n.582-7_582-3del) c.647+6006_647+6010del (n.647+6006_647+6010del) c.648-7_648-3del (n.648-7_648-3del) c.44-7_44-3del (n.44-7_44-3del) c.-104+24940_-104+24944del (n.-104+24940_-104+24944del) c.-110-7_-110-3del (n.-110-7_-110-3del) c.743-7_743-3del (n.743-7_743-3del) n.836-7_836-3del | gnomAD v4 |
1 | g.67206903T>C | CA2646124352 | C1orf141,IL23R | c.529-7T>C (n.529-7T>C) c.492-7T>C (n.492-7T>C) c.653-7T>C (n.653-7T>C) c.492-12671T>C (n.492-12671T>C) c.652+6006T>C (n.652+6006T>C) c.491+23944T>C (n.491+23944T>C) c.582-7T>C (n.582-7T>C) c.647+6006T>C (n.647+6006T>C) c.648-7T>C (n.648-7T>C) c.44-7T>C (n.44-7T>C) c.-104+24943A>G (n.-104+24943A>G) c.-110-7T>C (n.-110-7T>C) c.743-7T>C (n.743-7T>C) n.836-7T>C | gnomAD v4 |
1 | g.67206905_67206906insTTTATTT | CA2743978238 | C1orf141,IL23R | c.529-5_529-4insTTTATTT (n.529-5_529-4insTTTATTT) c.492-5_492-4insTTTATTT (n.492-5_492-4insTTTATTT) c.653-5_653-4insTTTATTT (n.653-5_653-4insTTTATTT) c.492-12669_492-12668insTTTATTT (n.492-12669_492-12668insTTTATTT) c.652+6008_652+6009insTTTATTT (n.652+6008_652+6009insTTTATTT) c.491+23946_491+23947insTTTATTT (n.491+23946_491+23947insTTTATTT) c.582-5_582-4insTTTATTT (n.582-5_582-4insTTTATTT) c.647+6008_647+6009insTTTATTT (n.647+6008_647+6009insTTTATTT) c.648-5_648-4insTTTATTT (n.648-5_648-4insTTTATTT) c.44-5_44-4insTTTATTT (n.44-5_44-4insTTTATTT) c.-104+24943_-104+24944insTAAAAAA (n.-104+24943_-104+24944insTAAAAAA) c.-110-5_-110-4insTTTATTT (n.-110-5_-110-4insTTTATTT) c.743-5_743-4insTTTATTT (n.743-5_743-4insTTTATTT) n.836-5_836-4insTTTATTT | |
1 | g.67206904_67206907del | CA2574401330 | C1orf141,IL23R | c.529-6_529-3del (n.529-6_529-3del) c.492-6_492-3del (n.492-6_492-3del) c.653-6_653-3del (n.653-6_653-3del) c.492-12670_492-12667del (n.492-12670_492-12667del) c.652+6007_652+6010del (n.652+6007_652+6010del) c.491+23945_491+23948del (n.491+23945_491+23948del) c.582-6_582-3del (n.582-6_582-3del) c.647+6007_647+6010del (n.647+6007_647+6010del) c.648-6_648-3del (n.648-6_648-3del) c.44-6_44-3del (n.44-6_44-3del) c.-104+24940_-104+24943del (n.-104+24940_-104+24943del) c.-110-6_-110-3del (n.-110-6_-110-3del) c.743-6_743-3del (n.743-6_743-3del) n.836-6_836-3del | gnomAD v4 |
1 | g.67206904_67206905insGT | CA2646124354 | C1orf141,IL23R | c.529-6_529-5insGT (n.529-6_529-5insGT) c.492-6_492-5insGT (n.492-6_492-5insGT) c.653-6_653-5insGT (n.653-6_653-5insGT) c.492-12670_492-12669insGT (n.492-12670_492-12669insGT) c.652+6007_652+6008insGT (n.652+6007_652+6008insGT) c.491+23945_491+23946insGT (n.491+23945_491+23946insGT) c.582-6_582-5insGT (n.582-6_582-5insGT) c.647+6007_647+6008insGT (n.647+6007_647+6008insGT) c.648-6_648-5insGT (n.648-6_648-5insGT) c.44-6_44-5insGT (n.44-6_44-5insGT) c.-104+24942_-104+24943insCA (n.-104+24942_-104+24943insCA) c.-110-6_-110-5insGT (n.-110-6_-110-5insGT) c.743-6_743-5insGT (n.743-6_743-5insGT) n.836-6_836-5insGT | gnomAD v4 |
1 | g.67206905_67206906insTTTTTGTT | CA2646124353 | C1orf141,IL23R | c.529-5_529-4insTTTTTGTT (n.529-5_529-4insTTTTTGTT) c.492-5_492-4insTTTTTGTT (n.492-5_492-4insTTTTTGTT) c.653-5_653-4insTTTTTGTT (n.653-5_653-4insTTTTTGTT) c.492-12669_492-12668insTTTTTGTT (n.492-12669_492-12668insTTTTTGTT) c.652+6008_652+6009insTTTTTGTT (n.652+6008_652+6009insTTTTTGTT) c.491+23946_491+23947insTTTTTGTT (n.491+23946_491+23947insTTTTTGTT) c.582-5_582-4insTTTTTGTT (n.582-5_582-4insTTTTTGTT) c.647+6008_647+6009insTTTTTGTT (n.647+6008_647+6009insTTTTTGTT) c.648-5_648-4insTTTTTGTT (n.648-5_648-4insTTTTTGTT) c.44-5_44-4insTTTTTGTT (n.44-5_44-4insTTTTTGTT) c.-104+24942_-104+24943insCAAAAAAA (n.-104+24942_-104+24943insCAAAAAAA) c.-110-5_-110-4insTTTTTGTT (n.-110-5_-110-4insTTTTTGTT) c.743-5_743-4insTTTTTGTT (n.743-5_743-4insTTTTTGTT) n.836-5_836-4insTTTTTGTT | gnomAD v4 |
1 | g.67206904_67206906delinsTTC | CA1173042416 | C1orf141,IL23R | c.529-6_529-4delinsTTC (n.529-6_529-4delinsTTC) c.492-6_492-4delinsTTC (n.492-6_492-4delinsTTC) c.653-6_653-4delinsTTC (n.653-6_653-4delinsTTC) c.492-12670_492-12668delinsTTC (n.492-12670_492-12668delinsTTC) c.652+6007_652+6009delinsTTC (n.652+6007_652+6009delinsTTC) c.491+23945_491+23947delinsTTC (n.491+23945_491+23947delinsTTC) c.582-6_582-4delinsTTC (n.582-6_582-4delinsTTC) c.647+6007_647+6009delinsTTC (n.647+6007_647+6009delinsTTC) c.648-6_648-4delinsTTC (n.648-6_648-4delinsTTC) c.44-6_44-4delinsTTC (n.44-6_44-4delinsTTC) c.-104+24940_-104+24942delinsGAA (n.-104+24940_-104+24942delinsGAA) c.-110-6_-110-4delinsTTC (n.-110-6_-110-4delinsTTC) c.743-6_743-4delinsTTC (n.743-6_743-4delinsTTC) n.836-6_836-4delinsTTC | |
1 | g.67206905_67206907del | CA2574401331 | C1orf141,IL23R | c.529-5_529-3del (n.529-5_529-3del) c.492-5_492-3del (n.492-5_492-3del) c.653-5_653-3del (n.653-5_653-3del) c.492-12669_492-12667del (n.492-12669_492-12667del) c.652+6008_652+6010del (n.652+6008_652+6010del) c.491+23946_491+23948del (n.491+23946_491+23948del) c.582-5_582-3del (n.582-5_582-3del) c.647+6008_647+6010del (n.647+6008_647+6010del) c.648-5_648-3del (n.648-5_648-3del) c.44-5_44-3del (n.44-5_44-3del) c.-104+24940_-104+24942del (n.-104+24940_-104+24942del) c.-110-5_-110-3del (n.-110-5_-110-3del) c.743-5_743-3del (n.743-5_743-3del) n.836-5_836-3del | gnomAD v4 |
1 | g.67206905T>C | CA23532477 | C1orf141,IL23R | c.529-5T>C (n.529-5T>C) c.492-5T>C (n.492-5T>C) c.653-5T>C (n.653-5T>C) c.492-12669T>C (n.492-12669T>C) c.652+6008T>C (n.652+6008T>C) c.491+23946T>C (n.491+23946T>C) c.582-5T>C (n.582-5T>C) c.647+6008T>C (n.647+6008T>C) c.648-5T>C (n.648-5T>C) c.44-5T>C (n.44-5T>C) c.-104+24941A>G (n.-104+24941A>G) c.-110-5T>C (n.-110-5T>C) c.743-5T>C (n.743-5T>C) n.836-5T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206905T= | CA1173042418 | C1orf141,IL23R | c.529-5T= (n.529-5T=) c.492-5T= (n.492-5T=) c.653-5T= (n.653-5T=) c.492-12669T= (n.492-12669T=) c.652+6008T= (n.652+6008T=) c.491+23946T= (n.491+23946T=) c.582-5T= (n.582-5T=) c.647+6008T= (n.647+6008T=) c.648-5T= (n.648-5T=) c.44-5T= (n.44-5T=) c.-104+24941A= (n.-104+24941A=) c.-110-5T= (n.-110-5T=) c.743-5T= (n.743-5T=) n.836-5T= | |
1 | g.67206905_67206906delinsTC | CA1173042419 | C1orf141,IL23R | c.529-5_529-4delinsTC (n.529-5_529-4delinsTC) c.492-5_492-4delinsTC (n.492-5_492-4delinsTC) c.653-5_653-4delinsTC (n.653-5_653-4delinsTC) c.492-12669_492-12668delinsTC (n.492-12669_492-12668delinsTC) c.652+6008_652+6009delinsTC (n.652+6008_652+6009delinsTC) c.491+23946_491+23947delinsTC (n.491+23946_491+23947delinsTC) c.582-5_582-4delinsTC (n.582-5_582-4delinsTC) c.647+6008_647+6009delinsTC (n.647+6008_647+6009delinsTC) c.648-5_648-4delinsTC (n.648-5_648-4delinsTC) c.44-5_44-4delinsTC (n.44-5_44-4delinsTC) c.-104+24940_-104+24941delinsGA (n.-104+24940_-104+24941delinsGA) c.-110-5_-110-4delinsTC (n.-110-5_-110-4delinsTC) c.743-5_743-4delinsTC (n.743-5_743-4delinsTC) n.836-5_836-4delinsTC | |
1 | g.67206906_67206907del | CA738053320 | C1orf141,IL23R | c.529-4_529-3del (n.529-4_529-3del) c.492-4_492-3del (n.492-4_492-3del) c.653-4_653-3del (n.653-4_653-3del) c.492-12668_492-12667del (n.492-12668_492-12667del) c.652+6009_652+6010del (n.652+6009_652+6010del) c.491+23947_491+23948del (n.491+23947_491+23948del) c.582-4_582-3del (n.582-4_582-3del) c.647+6009_647+6010del (n.647+6009_647+6010del) c.648-4_648-3del (n.648-4_648-3del) c.44-4_44-3del (n.44-4_44-3del) c.-104+24940_-104+24941del (n.-104+24940_-104+24941del) c.-110-4_-110-3del (n.-110-4_-110-3del) c.743-4_743-3del (n.743-4_743-3del) n.836-4_836-3del | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206905_67206916delinsTCTAGTGATACC | CA1173042417 | C1orf141,IL23R | c.529-5_535delinsTCTAGTGATACC c.492-5_498delinsTCTAGTGATACC c.653-5_659delinsTCTAGTGATACC c.492-12669_492-12658delinsTCTAGTGATACC (n.492-12669_492-12658delinsTCTAGTGATACC) c.652+6008_652+6019delinsTCTAGTGATACC (n.652+6008_652+6019delinsTCTAGTGATACC) c.491+23946_491+23957delinsTCTAGTGATACC (n.491+23946_491+23957delinsTCTAGTGATACC) c.582-5_588delinsTCTAGTGATACC c.647+6008_647+6019delinsTCTAGTGATACC (n.647+6008_647+6019delinsTCTAGTGATACC) c.648-5_654delinsTCTAGTGATACC c.44-5_50delinsTCTAGTGATACC c.-104+24930_-104+24941delinsGGTATCACTAGA (n.-104+24930_-104+24941delinsGGTATCACTAGA) c.-110-5_-104delinsTCTAGTGATACC c.743-5_749delinsTCTAGTGATACC n.836-5_842delinsTCTAGTGATACC | |
1 | g.67206905_67206906insTC | CA2646124358 | C1orf141,IL23R | c.529-5_529-4insTC (n.529-5_529-4insTC) c.492-5_492-4insTC (n.492-5_492-4insTC) c.653-5_653-4insTC (n.653-5_653-4insTC) c.492-12669_492-12668insTC (n.492-12669_492-12668insTC) c.652+6008_652+6009insTC (n.652+6008_652+6009insTC) c.491+23946_491+23947insTC (n.491+23946_491+23947insTC) c.582-5_582-4insTC (n.582-5_582-4insTC) c.647+6008_647+6009insTC (n.647+6008_647+6009insTC) c.648-5_648-4insTC (n.648-5_648-4insTC) c.44-5_44-4insTC (n.44-5_44-4insTC) c.-104+24940_-104+24941insGA (n.-104+24940_-104+24941insGA) c.-110-5_-110-4insTC (n.-110-5_-110-4insTC) c.743-5_743-4insTC (n.743-5_743-4insTC) n.836-5_836-4insTC | gnomAD v4 |
1 | g.67206905_67206906insTTTTG | CA1002751766 | C1orf141,IL23R | c.529-5_529-4insTTTTG (n.529-5_529-4insTTTTG) c.492-5_492-4insTTTTG (n.492-5_492-4insTTTTG) c.653-5_653-4insTTTTG (n.653-5_653-4insTTTTG) c.492-12669_492-12668insTTTTG (n.492-12669_492-12668insTTTTG) c.652+6008_652+6009insTTTTG (n.652+6008_652+6009insTTTTG) c.491+23946_491+23947insTTTTG (n.491+23946_491+23947insTTTTG) c.582-5_582-4insTTTTG (n.582-5_582-4insTTTTG) c.647+6008_647+6009insTTTTG (n.647+6008_647+6009insTTTTG) c.648-5_648-4insTTTTG (n.648-5_648-4insTTTTG) c.44-5_44-4insTTTTG (n.44-5_44-4insTTTTG) c.-104+24940_-104+24941insCAAAA (n.-104+24940_-104+24941insCAAAA) c.-110-5_-110-4insTTTTG (n.-110-5_-110-4insTTTTG) c.743-5_743-4insTTTTG (n.743-5_743-4insTTTTG) n.836-5_836-4insTTTTG | |
1 | g.67206905_67206906insTTTTTG | CA2646124363 | C1orf141,IL23R | c.529-5_529-4insTTTTTG (n.529-5_529-4insTTTTTG) c.492-5_492-4insTTTTTG (n.492-5_492-4insTTTTTG) c.653-5_653-4insTTTTTG (n.653-5_653-4insTTTTTG) c.492-12669_492-12668insTTTTTG (n.492-12669_492-12668insTTTTTG) c.652+6008_652+6009insTTTTTG (n.652+6008_652+6009insTTTTTG) c.491+23946_491+23947insTTTTTG (n.491+23946_491+23947insTTTTTG) c.582-5_582-4insTTTTTG (n.582-5_582-4insTTTTTG) c.647+6008_647+6009insTTTTTG (n.647+6008_647+6009insTTTTTG) c.648-5_648-4insTTTTTG (n.648-5_648-4insTTTTTG) c.44-5_44-4insTTTTTG (n.44-5_44-4insTTTTTG) c.-104+24940_-104+24941insCAAAAA (n.-104+24940_-104+24941insCAAAAA) c.-110-5_-110-4insTTTTTG (n.-110-5_-110-4insTTTTTG) c.743-5_743-4insTTTTTG (n.743-5_743-4insTTTTTG) n.836-5_836-4insTTTTTG | gnomAD v4 |
1 | g.67206905_67206906insTTTTGTG | CA2646124361 | C1orf141,IL23R | c.529-5_529-4insTTTTGTG (n.529-5_529-4insTTTTGTG) c.492-5_492-4insTTTTGTG (n.492-5_492-4insTTTTGTG) c.653-5_653-4insTTTTGTG (n.653-5_653-4insTTTTGTG) c.492-12669_492-12668insTTTTGTG (n.492-12669_492-12668insTTTTGTG) c.652+6008_652+6009insTTTTGTG (n.652+6008_652+6009insTTTTGTG) c.491+23946_491+23947insTTTTGTG (n.491+23946_491+23947insTTTTGTG) c.582-5_582-4insTTTTGTG (n.582-5_582-4insTTTTGTG) c.647+6008_647+6009insTTTTGTG (n.647+6008_647+6009insTTTTGTG) c.648-5_648-4insTTTTGTG (n.648-5_648-4insTTTTGTG) c.44-5_44-4insTTTTGTG (n.44-5_44-4insTTTTGTG) c.-104+24940_-104+24941insCACAAAA (n.-104+24940_-104+24941insCACAAAA) c.-110-5_-110-4insTTTTGTG (n.-110-5_-110-4insTTTTGTG) c.743-5_743-4insTTTTGTG (n.743-5_743-4insTTTTGTG) n.836-5_836-4insTTTTGTG | gnomAD v4 |
1 | g.67206905_67206906insTTTTTTG | CA2646124362 | C1orf141,IL23R | c.529-5_529-4insTTTTTTG (n.529-5_529-4insTTTTTTG) c.492-5_492-4insTTTTTTG (n.492-5_492-4insTTTTTTG) c.653-5_653-4insTTTTTTG (n.653-5_653-4insTTTTTTG) c.492-12669_492-12668insTTTTTTG (n.492-12669_492-12668insTTTTTTG) c.652+6008_652+6009insTTTTTTG (n.652+6008_652+6009insTTTTTTG) c.491+23946_491+23947insTTTTTTG (n.491+23946_491+23947insTTTTTTG) c.582-5_582-4insTTTTTTG (n.582-5_582-4insTTTTTTG) c.647+6008_647+6009insTTTTTTG (n.647+6008_647+6009insTTTTTTG) c.648-5_648-4insTTTTTTG (n.648-5_648-4insTTTTTTG) c.44-5_44-4insTTTTTTG (n.44-5_44-4insTTTTTTG) c.-104+24940_-104+24941insCAAAAAA (n.-104+24940_-104+24941insCAAAAAA) c.-110-5_-110-4insTTTTTTG (n.-110-5_-110-4insTTTTTTG) c.743-5_743-4insTTTTTTG (n.743-5_743-4insTTTTTTG) n.836-5_836-4insTTTTTTG | gnomAD v4 |
1 | g.67206905_67206906insTTTTTTTG | CA2646124356 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTG (n.529-5_529-4insTTTTTTTG) c.492-5_492-4insTTTTTTTG (n.492-5_492-4insTTTTTTTG) c.653-5_653-4insTTTTTTTG (n.653-5_653-4insTTTTTTTG) c.492-12669_492-12668insTTTTTTTG (n.492-12669_492-12668insTTTTTTTG) c.652+6008_652+6009insTTTTTTTG (n.652+6008_652+6009insTTTTTTTG) c.491+23946_491+23947insTTTTTTTG (n.491+23946_491+23947insTTTTTTTG) c.582-5_582-4insTTTTTTTG (n.582-5_582-4insTTTTTTTG) c.647+6008_647+6009insTTTTTTTG (n.647+6008_647+6009insTTTTTTTG) c.648-5_648-4insTTTTTTTG (n.648-5_648-4insTTTTTTTG) c.44-5_44-4insTTTTTTTG (n.44-5_44-4insTTTTTTTG) c.-104+24940_-104+24941insCAAAAAAA (n.-104+24940_-104+24941insCAAAAAAA) c.-110-5_-110-4insTTTTTTTG (n.-110-5_-110-4insTTTTTTTG) c.743-5_743-4insTTTTTTTG (n.743-5_743-4insTTTTTTTG) n.836-5_836-4insTTTTTTTG | gnomAD v4 |
1 | g.67206905_67206906insTTTGTGATA | CA1002751758 | C1orf141,IL23R | c.529-5_529-4insTTTGTGATA (n.529-5_529-4insTTTGTGATA) c.492-5_492-4insTTTGTGATA (n.492-5_492-4insTTTGTGATA) c.653-5_653-4insTTTGTGATA (n.653-5_653-4insTTTGTGATA) c.492-12669_492-12668insTTTGTGATA (n.492-12669_492-12668insTTTGTGATA) c.652+6008_652+6009insTTTGTGATA (n.652+6008_652+6009insTTTGTGATA) c.491+23946_491+23947insTTTGTGATA (n.491+23946_491+23947insTTTGTGATA) c.582-5_582-4insTTTGTGATA (n.582-5_582-4insTTTGTGATA) c.647+6008_647+6009insTTTGTGATA (n.647+6008_647+6009insTTTGTGATA) c.648-5_648-4insTTTGTGATA (n.648-5_648-4insTTTGTGATA) c.44-5_44-4insTTTGTGATA (n.44-5_44-4insTTTGTGATA) c.-104+24940_-104+24941insTATCACAAA (n.-104+24940_-104+24941insTATCACAAA) c.-110-5_-110-4insTTTGTGATA (n.-110-5_-110-4insTTTGTGATA) c.743-5_743-4insTTTGTGATA (n.743-5_743-4insTTTGTGATA) n.836-5_836-4insTTTGTGATA | gnomAD v3 gnomAD v4 |
1 | g.67206905_67206906insTTTTTTTTA | CA2646124357 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTA (n.529-5_529-4insTTTTTTTTA) c.492-5_492-4insTTTTTTTTA (n.492-5_492-4insTTTTTTTTA) c.653-5_653-4insTTTTTTTTA (n.653-5_653-4insTTTTTTTTA) c.492-12669_492-12668insTTTTTTTTA (n.492-12669_492-12668insTTTTTTTTA) c.652+6008_652+6009insTTTTTTTTA (n.652+6008_652+6009insTTTTTTTTA) c.491+23946_491+23947insTTTTTTTTA (n.491+23946_491+23947insTTTTTTTTA) c.582-5_582-4insTTTTTTTTA (n.582-5_582-4insTTTTTTTTA) c.647+6008_647+6009insTTTTTTTTA (n.647+6008_647+6009insTTTTTTTTA) c.648-5_648-4insTTTTTTTTA (n.648-5_648-4insTTTTTTTTA) c.44-5_44-4insTTTTTTTTA (n.44-5_44-4insTTTTTTTTA) c.-104+24940_-104+24941insTAAAAAAAA (n.-104+24940_-104+24941insTAAAAAAAA) c.-110-5_-110-4insTTTTTTTTA (n.-110-5_-110-4insTTTTTTTTA) c.743-5_743-4insTTTTTTTTA (n.743-5_743-4insTTTTTTTTA) n.836-5_836-4insTTTTTTTTA | gnomAD v4 |
1 | g.67206905_67206906insTTTATTTTTAA | CA2646124359 | C1orf141,IL23R | c.529-5_529-4insTTTATTTTTAA (n.529-5_529-4insTTTATTTTTAA) c.492-5_492-4insTTTATTTTTAA (n.492-5_492-4insTTTATTTTTAA) c.653-5_653-4insTTTATTTTTAA (n.653-5_653-4insTTTATTTTTAA) c.492-12669_492-12668insTTTATTTTTAA (n.492-12669_492-12668insTTTATTTTTAA) c.652+6008_652+6009insTTTATTTTTAA (n.652+6008_652+6009insTTTATTTTTAA) c.491+23946_491+23947insTTTATTTTTAA (n.491+23946_491+23947insTTTATTTTTAA) c.582-5_582-4insTTTATTTTTAA (n.582-5_582-4insTTTATTTTTAA) c.647+6008_647+6009insTTTATTTTTAA (n.647+6008_647+6009insTTTATTTTTAA) c.648-5_648-4insTTTATTTTTAA (n.648-5_648-4insTTTATTTTTAA) c.44-5_44-4insTTTATTTTTAA (n.44-5_44-4insTTTATTTTTAA) c.-104+24940_-104+24941insTTAAAAATAAA (n.-104+24940_-104+24941insTTAAAAATAAA) c.-110-5_-110-4insTTTATTTTTAA (n.-110-5_-110-4insTTTATTTTTAA) c.743-5_743-4insTTTATTTTTAA (n.743-5_743-4insTTTATTTTTAA) n.836-5_836-4insTTTATTTTTAA | gnomAD v4 |
1 | g.67206905_67206906insTTTTGTGATAC | CA2646124360 | C1orf141,IL23R | c.529-5_529-4insTTTTGTGATAC (n.529-5_529-4insTTTTGTGATAC) c.492-5_492-4insTTTTGTGATAC (n.492-5_492-4insTTTTGTGATAC) c.653-5_653-4insTTTTGTGATAC (n.653-5_653-4insTTTTGTGATAC) c.492-12669_492-12668insTTTTGTGATAC (n.492-12669_492-12668insTTTTGTGATAC) c.652+6008_652+6009insTTTTGTGATAC (n.652+6008_652+6009insTTTTGTGATAC) c.491+23946_491+23947insTTTTGTGATAC (n.491+23946_491+23947insTTTTGTGATAC) c.582-5_582-4insTTTTGTGATAC (n.582-5_582-4insTTTTGTGATAC) c.647+6008_647+6009insTTTTGTGATAC (n.647+6008_647+6009insTTTTGTGATAC) c.648-5_648-4insTTTTGTGATAC (n.648-5_648-4insTTTTGTGATAC) c.44-5_44-4insTTTTGTGATAC (n.44-5_44-4insTTTTGTGATAC) c.-104+24940_-104+24941insGTATCACAAAA (n.-104+24940_-104+24941insGTATCACAAAA) c.-110-5_-110-4insTTTTGTGATAC (n.-110-5_-110-4insTTTTGTGATAC) c.743-5_743-4insTTTTGTGATAC (n.743-5_743-4insTTTTGTGATAC) n.836-5_836-4insTTTTGTGATAC | gnomAD v4 |
1 | g.67206905_67206906insTTTTTTTTTTC | CA2646124355 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTTTC (n.529-5_529-4insTTTTTTTTTTC) c.492-5_492-4insTTTTTTTTTTC (n.492-5_492-4insTTTTTTTTTTC) c.653-5_653-4insTTTTTTTTTTC (n.653-5_653-4insTTTTTTTTTTC) c.492-12669_492-12668insTTTTTTTTTTC (n.492-12669_492-12668insTTTTTTTTTTC) c.652+6008_652+6009insTTTTTTTTTTC (n.652+6008_652+6009insTTTTTTTTTTC) c.491+23946_491+23947insTTTTTTTTTTC (n.491+23946_491+23947insTTTTTTTTTTC) c.582-5_582-4insTTTTTTTTTTC (n.582-5_582-4insTTTTTTTTTTC) c.647+6008_647+6009insTTTTTTTTTTC (n.647+6008_647+6009insTTTTTTTTTTC) c.648-5_648-4insTTTTTTTTTTC (n.648-5_648-4insTTTTTTTTTTC) c.44-5_44-4insTTTTTTTTTTC (n.44-5_44-4insTTTTTTTTTTC) c.-104+24940_-104+24941insGAAAAAAAAAA (n.-104+24940_-104+24941insGAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTTTTC (n.-110-5_-110-4insTTTTTTTTTTC) c.743-5_743-4insTTTTTTTTTTC (n.743-5_743-4insTTTTTTTTTTC) n.836-5_836-4insTTTTTTTTTTC | gnomAD v4 |
1 | g.67206905_67206906insTTTAGTGATACCTTCTGCAGC | CA2743978239 | C1orf141,IL23R | c.529-5_529-4insTTTAGTGATACCTTCTGCAGC (n.529-5_529-4insTTTAGTGATACCTTCTGCAGC) c.492-5_492-4insTTTAGTGATACCTTCTGCAGC (n.492-5_492-4insTTTAGTGATACCTTCTGCAGC) c.653-5_653-4insTTTAGTGATACCTTCTGCAGC (n.653-5_653-4insTTTAGTGATACCTTCTGCAGC) c.492-12669_492-12668insTTTAGTGATACCTTCTGCAGC (n.492-12669_492-12668insTTTAGTGATACCTTCTGCAGC) c.652+6008_652+6009insTTTAGTGATACCTTCTGCAGC (n.652+6008_652+6009insTTTAGTGATACCTTCTGCAGC) c.491+23946_491+23947insTTTAGTGATACCTTCTGCAGC (n.491+23946_491+23947insTTTAGTGATACCTTCTGCAGC) c.582-5_582-4insTTTAGTGATACCTTCTGCAGC (n.582-5_582-4insTTTAGTGATACCTTCTGCAGC) c.647+6008_647+6009insTTTAGTGATACCTTCTGCAGC (n.647+6008_647+6009insTTTAGTGATACCTTCTGCAGC) c.648-5_648-4insTTTAGTGATACCTTCTGCAGC (n.648-5_648-4insTTTAGTGATACCTTCTGCAGC) c.44-5_44-4insTTTAGTGATACCTTCTGCAGC (n.44-5_44-4insTTTAGTGATACCTTCTGCAGC) c.-104+24940_-104+24941insGCTGCAGAAGGTATCACTAAA (n.-104+24940_-104+24941insGCTGCAGAAGGTATCACTAAA) c.-110-5_-110-4insTTTAGTGATACCTTCTGCAGC (n.-110-5_-110-4insTTTAGTGATACCTTCTGCAGC) c.743-5_743-4insTTTAGTGATACCTTCTGCAGC (n.743-5_743-4insTTTAGTGATACCTTCTGCAGC) n.836-5_836-4insTTTAGTGATACCTTCTGCAGC | |
1 | g.67206905_67206906insTTTTTTTTTTTTTTTTTTTTC | CA523284955 | C1orf141,IL23R | c.529-5_529-4insTTTTTTTTTTTTTTTTTTTTC (n.529-5_529-4insTTTTTTTTTTTTTTTTTTTTC) c.492-5_492-4insTTTTTTTTTTTTTTTTTTTTC (n.492-5_492-4insTTTTTTTTTTTTTTTTTTTTC) c.653-5_653-4insTTTTTTTTTTTTTTTTTTTTC (n.653-5_653-4insTTTTTTTTTTTTTTTTTTTTC) c.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTC (n.492-12669_492-12668insTTTTTTTTTTTTTTTTTTTTC) c.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTC (n.652+6008_652+6009insTTTTTTTTTTTTTTTTTTTTC) c.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTC (n.491+23946_491+23947insTTTTTTTTTTTTTTTTTTTTC) c.582-5_582-4insTTTTTTTTTTTTTTTTTTTTC (n.582-5_582-4insTTTTTTTTTTTTTTTTTTTTC) c.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTC (n.647+6008_647+6009insTTTTTTTTTTTTTTTTTTTTC) c.648-5_648-4insTTTTTTTTTTTTTTTTTTTTC (n.648-5_648-4insTTTTTTTTTTTTTTTTTTTTC) c.44-5_44-4insTTTTTTTTTTTTTTTTTTTTC (n.44-5_44-4insTTTTTTTTTTTTTTTTTTTTC) c.-104+24940_-104+24941insGAAAAAAAAAAAAAAAAAAAA (n.-104+24940_-104+24941insGAAAAAAAAAAAAAAAAAAAA) c.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTC (n.-110-5_-110-4insTTTTTTTTTTTTTTTTTTTTC) c.743-5_743-4insTTTTTTTTTTTTTTTTTTTTC (n.743-5_743-4insTTTTTTTTTTTTTTTTTTTTC) n.836-5_836-4insTTTTTTTTTTTTTTTTTTTTC | dbSNP gnomAD v2 gnomAD v4 |
1 | g.67206906del | CA899786 | C1orf141,IL23R | c.529-4del (n.529-4del) c.492-4del (n.492-4del) c.653-4del (n.653-4del) c.492-12668del (n.492-12668del) c.652+6009del (n.652+6009del) c.491+23947del (n.491+23947del) c.582-4del (n.582-4del) c.647+6009del (n.647+6009del) c.648-4del (n.648-4del) c.44-4del (n.44-4del) c.-104+24940del (n.-104+24940del) c.-110-4del (n.-110-4del) c.743-4del (n.743-4del) n.836-4del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206906C>A | CA523284958 | C1orf141,IL23R | c.529-4C>A (n.529-4C>A) c.492-4C>A (n.492-4C>A) c.653-4C>A (n.653-4C>A) c.492-12668C>A (n.492-12668C>A) c.652+6009C>A (n.652+6009C>A) c.491+23947C>A (n.491+23947C>A) c.582-4C>A (n.582-4C>A) c.647+6009C>A (n.647+6009C>A) c.648-4C>A (n.648-4C>A) c.44-4C>A (n.44-4C>A) c.-104+24940G>T (n.-104+24940G>T) c.-110-4C>A (n.-110-4C>A) c.743-4C>A (n.743-4C>A) n.836-4C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206906C= | CA1140057415 | C1orf141,IL23R | c.529-4C= (n.529-4C=) c.492-4C= (n.492-4C=) c.653-4C= (n.653-4C=) c.492-12668C= (n.492-12668C=) c.652+6009C= (n.652+6009C=) c.491+23947C= (n.491+23947C=) c.582-4C= (n.582-4C=) c.647+6009C= (n.647+6009C=) c.648-4C= (n.648-4C=) c.44-4C= (n.44-4C=) c.-104+24940G= (n.-104+24940G=) c.-110-4C= (n.-110-4C=) c.743-4C= (n.743-4C=) n.836-4C= | |
1 | g.67206906C>G | CA1002751761 | C1orf141,IL23R | c.529-4C>G (n.529-4C>G) c.492-4C>G (n.492-4C>G) c.653-4C>G (n.653-4C>G) c.492-12668C>G (n.492-12668C>G) c.652+6009C>G (n.652+6009C>G) c.491+23947C>G (n.491+23947C>G) c.582-4C>G (n.582-4C>G) c.647+6009C>G (n.647+6009C>G) c.648-4C>G (n.648-4C>G) c.44-4C>G (n.44-4C>G) c.-104+24940G>C (n.-104+24940G>C) c.-110-4C>G (n.-110-4C>G) c.743-4C>G (n.743-4C>G) n.836-4C>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206906C>T | CA899788 | C1orf141,IL23R | c.529-4C>T (n.529-4C>T) c.492-4C>T (n.492-4C>T) c.653-4C>T (n.653-4C>T) c.492-12668C>T (n.492-12668C>T) c.652+6009C>T (n.652+6009C>T) c.491+23947C>T (n.491+23947C>T) c.582-4C>T (n.582-4C>T) c.647+6009C>T (n.647+6009C>T) c.648-4C>T (n.648-4C>T) c.44-4C>T (n.44-4C>T) c.-104+24940G>A (n.-104+24940G>A) c.-110-4C>T (n.-110-4C>T) c.743-4C>T (n.743-4C>T) n.836-4C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.67206906dup | CA899787 | C1orf141,IL23R | c.529-4dup (n.529-4dup) c.492-4dup (n.492-4dup) c.653-4dup (n.653-4dup) c.492-12668dup (n.492-12668dup) c.652+6009dup (n.652+6009dup) c.491+23947dup (n.491+23947dup) c.582-4dup (n.582-4dup) c.647+6009dup (n.647+6009dup) c.648-4dup (n.648-4dup) c.44-4dup (n.44-4dup) c.-104+24940dup (n.-104+24940dup) c.-110-4dup (n.-110-4dup) c.743-4dup (n.743-4dup) n.836-4dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206906_67206908del | CA2574401332 | C1orf141,IL23R | c.529-4_529-2del (n.529-4_529-2del) c.492-4_492-2del (n.492-4_492-2del) c.653-4_653-2del (n.653-4_653-2del) c.492-12668_492-12666del (n.492-12668_492-12666del) c.652+6009_652+6011del (n.652+6009_652+6011del) c.491+23947_491+23949del (n.491+23947_491+23949del) c.582-4_582-2del (n.582-4_582-2del) c.647+6009_647+6011del (n.647+6009_647+6011del) c.648-4_648-2del (n.648-4_648-2del) c.44-4_44-2del (n.44-4_44-2del) c.-104+24938_-104+24940del (n.-104+24938_-104+24940del) c.-110-4_-110-2del (n.-110-4_-110-2del) c.743-4_743-2del (n.743-4_743-2del) n.836-4_836-2del | gnomAD v4 |
1 | g.67206906_67206909del | CA2574401333 | C1orf141,IL23R | c.529-4_529-1del (n.529-4_529-1del) c.492-4_492-1del (n.492-4_492-1del) c.653-4_653-1del (n.653-4_653-1del) c.492-12668_492-12665del (n.492-12668_492-12665del) c.652+6009_652+6012del (n.652+6009_652+6012del) c.491+23947_491+23950del (n.491+23947_491+23950del) c.582-4_582-1del (n.582-4_582-1del) c.647+6009_647+6012del (n.647+6009_647+6012del) c.648-4_648-1del (n.648-4_648-1del) c.44-4_44-1del (n.44-4_44-1del) c.-104+24937_-104+24940del (n.-104+24937_-104+24940del) c.-110-4_-110-1del (n.-110-4_-110-1del) c.743-4_743-1del (n.743-4_743-1del) n.836-4_836-1del | |
1 | g.67206906_67206916del | CA523284949 | C1orf141,IL23R | c.529-4_535del c.492-4_498del c.653-4_659del c.492-12668_492-12658del (n.492-12668_492-12658del) c.652+6009_652+6019del (n.652+6009_652+6019del) c.491+23947_491+23957del (n.491+23947_491+23957del) c.582-4_588del c.647+6009_647+6019del (n.647+6009_647+6019del) c.648-4_654del c.44-4_50del c.-104+24930_-104+24940del (n.-104+24930_-104+24940del) c.-110-4_-104del c.743-4_749del n.836-4_842del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206906_67206907insCT | CA23532491 | C1orf141,IL23R | c.529-4_529-3insCT (n.529-4_529-3insCT) c.492-4_492-3insCT (n.492-4_492-3insCT) c.653-4_653-3insCT (n.653-4_653-3insCT) c.492-12668_492-12667insCT (n.492-12668_492-12667insCT) c.652+6009_652+6010insCT (n.652+6009_652+6010insCT) c.491+23947_491+23948insCT (n.491+23947_491+23948insCT) c.582-4_582-3insCT (n.582-4_582-3insCT) c.647+6009_647+6010insCT (n.647+6009_647+6010insCT) c.648-4_648-3insCT (n.648-4_648-3insCT) c.44-4_44-3insCT (n.44-4_44-3insCT) c.-104+24939_-104+24940insAG (n.-104+24939_-104+24940insAG) c.-110-4_-110-3insCT (n.-110-4_-110-3insCT) c.743-4_743-3insCT (n.743-4_743-3insCT) n.836-4_836-3insCT | |
1 | g.67206906_67206907insCTTT | CA2646124364 | C1orf141,IL23R | c.529-4_529-3insCTTT (n.529-4_529-3insCTTT) c.492-4_492-3insCTTT (n.492-4_492-3insCTTT) c.653-4_653-3insCTTT (n.653-4_653-3insCTTT) c.492-12668_492-12667insCTTT (n.492-12668_492-12667insCTTT) c.652+6009_652+6010insCTTT (n.652+6009_652+6010insCTTT) c.491+23947_491+23948insCTTT (n.491+23947_491+23948insCTTT) c.582-4_582-3insCTTT (n.582-4_582-3insCTTT) c.647+6009_647+6010insCTTT (n.647+6009_647+6010insCTTT) c.648-4_648-3insCTTT (n.648-4_648-3insCTTT) c.44-4_44-3insCTTT (n.44-4_44-3insCTTT) c.-104+24939_-104+24940insAAAG (n.-104+24939_-104+24940insAAAG) c.-110-4_-110-3insCTTT (n.-110-4_-110-3insCTTT) c.743-4_743-3insCTTT (n.743-4_743-3insCTTT) n.836-4_836-3insCTTT | gnomAD v4 |
1 | g.67206906_67206907insCTTTT | CA1002751767 | C1orf141,IL23R | c.529-4_529-3insCTTTT (n.529-4_529-3insCTTTT) c.492-4_492-3insCTTTT (n.492-4_492-3insCTTTT) c.653-4_653-3insCTTTT (n.653-4_653-3insCTTTT) c.492-12668_492-12667insCTTTT (n.492-12668_492-12667insCTTTT) c.652+6009_652+6010insCTTTT (n.652+6009_652+6010insCTTTT) c.491+23947_491+23948insCTTTT (n.491+23947_491+23948insCTTTT) c.582-4_582-3insCTTTT (n.582-4_582-3insCTTTT) c.647+6009_647+6010insCTTTT (n.647+6009_647+6010insCTTTT) c.648-4_648-3insCTTTT (n.648-4_648-3insCTTTT) c.44-4_44-3insCTTTT (n.44-4_44-3insCTTTT) c.-104+24939_-104+24940insAAAAG (n.-104+24939_-104+24940insAAAAG) c.-110-4_-110-3insCTTTT (n.-110-4_-110-3insCTTTT) c.743-4_743-3insCTTTT (n.743-4_743-3insCTTTT) n.836-4_836-3insCTTTT | gnomAD v3 gnomAD v4 |
1 | g.67206906_67206907insCTTTTTTT | CA2743978241 | C1orf141,IL23R | c.529-4_529-3insCTTTTTTT (n.529-4_529-3insCTTTTTTT) c.492-4_492-3insCTTTTTTT (n.492-4_492-3insCTTTTTTT) c.653-4_653-3insCTTTTTTT (n.653-4_653-3insCTTTTTTT) c.492-12668_492-12667insCTTTTTTT (n.492-12668_492-12667insCTTTTTTT) c.652+6009_652+6010insCTTTTTTT (n.652+6009_652+6010insCTTTTTTT) c.491+23947_491+23948insCTTTTTTT (n.491+23947_491+23948insCTTTTTTT) c.582-4_582-3insCTTTTTTT (n.582-4_582-3insCTTTTTTT) c.647+6009_647+6010insCTTTTTTT (n.647+6009_647+6010insCTTTTTTT) c.648-4_648-3insCTTTTTTT (n.648-4_648-3insCTTTTTTT) c.44-4_44-3insCTTTTTTT (n.44-4_44-3insCTTTTTTT) c.-104+24939_-104+24940insAAAAAAAG (n.-104+24939_-104+24940insAAAAAAAG) c.-110-4_-110-3insCTTTTTTT (n.-110-4_-110-3insCTTTTTTT) c.743-4_743-3insCTTTTTTT (n.743-4_743-3insCTTTTTTT) n.836-4_836-3insCTTTTTTT | |
1 | g.67206907T>A | CA2646124367 | C1orf141,IL23R | c.529-3T>A (n.529-3T>A) c.492-3T>A (n.492-3T>A) c.653-3T>A (n.653-3T>A) c.492-12667T>A (n.492-12667T>A) c.652+6010T>A (n.652+6010T>A) c.491+23948T>A (n.491+23948T>A) c.582-3T>A (n.582-3T>A) c.647+6010T>A (n.647+6010T>A) c.648-3T>A (n.648-3T>A) c.44-3T>A (n.44-3T>A) c.-104+24939A>T (n.-104+24939A>T) c.-110-3T>A (n.-110-3T>A) c.743-3T>A (n.743-3T>A) n.836-3T>A | gnomAD v4 |
1 | g.67206907T>C | CA2646124365 | C1orf141,IL23R | c.529-3T>C (n.529-3T>C) c.492-3T>C (n.492-3T>C) c.653-3T>C (n.653-3T>C) c.492-12667T>C (n.492-12667T>C) c.652+6010T>C (n.652+6010T>C) c.491+23948T>C (n.491+23948T>C) c.582-3T>C (n.582-3T>C) c.647+6010T>C (n.647+6010T>C) c.648-3T>C (n.648-3T>C) c.44-3T>C (n.44-3T>C) c.-104+24939A>G (n.-104+24939A>G) c.-110-3T>C (n.-110-3T>C) c.743-3T>C (n.743-3T>C) n.836-3T>C | gnomAD v4 |
1 | g.67206907T>G | CA2743978240 | C1orf141,IL23R | c.529-3T>G (n.529-3T>G) c.492-3T>G (n.492-3T>G) c.653-3T>G (n.653-3T>G) c.492-12667T>G (n.492-12667T>G) c.652+6010T>G (n.652+6010T>G) c.491+23948T>G (n.491+23948T>G) c.582-3T>G (n.582-3T>G) c.647+6010T>G (n.647+6010T>G) c.648-3T>G (n.648-3T>G) c.44-3T>G (n.44-3T>G) c.-104+24939A>C (n.-104+24939A>C) c.-110-3T>G (n.-110-3T>G) c.743-3T>G (n.743-3T>G) n.836-3T>G | |
1 | g.67206907_67206909delinsTAG | CA1173042420 | C1orf141,IL23R | c.529-3_529-1delinsTAG (n.529-3_529-1delinsTAG) c.492-3_492-1delinsTAG (n.492-3_492-1delinsTAG) c.653-3_653-1delinsTAG (n.653-3_653-1delinsTAG) c.492-12667_492-12665delinsTAG (n.492-12667_492-12665delinsTAG) c.652+6010_652+6012delinsTAG (n.652+6010_652+6012delinsTAG) c.491+23948_491+23950delinsTAG (n.491+23948_491+23950delinsTAG) c.582-3_582-1delinsTAG (n.582-3_582-1delinsTAG) c.647+6010_647+6012delinsTAG (n.647+6010_647+6012delinsTAG) c.648-3_648-1delinsTAG (n.648-3_648-1delinsTAG) c.44-3_44-1delinsTAG (n.44-3_44-1delinsTAG) c.-104+24937_-104+24939delinsCTA (n.-104+24937_-104+24939delinsCTA) c.-110-3_-110-1delinsTAG (n.-110-3_-110-1delinsTAG) c.743-3_743-1delinsTAG (n.743-3_743-1delinsTAG) n.836-3_836-1delinsTAG | |
1 | g.67206907_67206911del | CA2646124366 | C1orf141,IL23R | c.529-3_530del c.492-3_493del c.653-3_654del c.492-12667_492-12663del (n.492-12667_492-12663del) c.652+6010_652+6014del (n.652+6010_652+6014del) c.491+23948_491+23952del (n.491+23948_491+23952del) c.582-3_583del c.647+6010_647+6014del (n.647+6010_647+6014del) c.648-3_649del c.44-3_45del c.-104+24935_-104+24939del (n.-104+24935_-104+24939del) c.-110-3_-109del c.743-3_744del n.836-3_837del | gnomAD v4 |
1 | g.67206907_67206912delinsTAGTGA | CA1173042421 | C1orf141,IL23R | c.529-3_531delinsTAGTGA c.492-3_494delinsTAGTGA c.653-3_655delinsTAGTGA c.492-12667_492-12662delinsTAGTGA (n.492-12667_492-12662delinsTAGTGA) c.652+6010_652+6015delinsTAGTGA (n.652+6010_652+6015delinsTAGTGA) c.491+23948_491+23953delinsTAGTGA (n.491+23948_491+23953delinsTAGTGA) c.582-3_584delinsTAGTGA c.647+6010_647+6015delinsTAGTGA (n.647+6010_647+6015delinsTAGTGA) c.648-3_650delinsTAGTGA c.44-3_46delinsTAGTGA c.-104+24934_-104+24939delinsTCACTA (n.-104+24934_-104+24939delinsTCACTA) c.-110-3_-108delinsTAGTGA c.743-3_745delinsTAGTGA n.836-3_838delinsTAGTGA | |
1 | g.67206907_67206908insTAA | CA2574401335 | C1orf141,IL23R | c.529-3_529-2insTAA (n.529-3_529-2insTAA) c.492-3_492-2insTAA (n.492-3_492-2insTAA) c.653-3_653-2insTAA (n.653-3_653-2insTAA) c.492-12667_492-12666insTAA (n.492-12667_492-12666insTAA) c.652+6010_652+6011insTAA (n.652+6010_652+6011insTAA) c.491+23948_491+23949insTAA (n.491+23948_491+23949insTAA) c.582-3_582-2insTAA (n.582-3_582-2insTAA) c.647+6010_647+6011insTAA (n.647+6010_647+6011insTAA) c.648-3_648-2insTAA (n.648-3_648-2insTAA) c.44-3_44-2insTAA (n.44-3_44-2insTAA) c.-104+24938_-104+24939insTTA (n.-104+24938_-104+24939insTTA) c.-110-3_-110-2insTAA (n.-110-3_-110-2insTAA) c.743-3_743-2insTAA (n.743-3_743-2insTAA) n.836-3_836-2insTAA | |
1 | g.67206907_67206908insTTTTTG | CA2646124368 | C1orf141,IL23R | c.529-3_529-2insTTTTTG (n.529-3_529-2insTTTTTG) c.492-3_492-2insTTTTTG (n.492-3_492-2insTTTTTG) c.653-3_653-2insTTTTTG (n.653-3_653-2insTTTTTG) c.492-12667_492-12666insTTTTTG (n.492-12667_492-12666insTTTTTG) c.652+6010_652+6011insTTTTTG (n.652+6010_652+6011insTTTTTG) c.491+23948_491+23949insTTTTTG (n.491+23948_491+23949insTTTTTG) c.582-3_582-2insTTTTTG (n.582-3_582-2insTTTTTG) c.647+6010_647+6011insTTTTTG (n.647+6010_647+6011insTTTTTG) c.648-3_648-2insTTTTTG (n.648-3_648-2insTTTTTG) c.44-3_44-2insTTTTTG (n.44-3_44-2insTTTTTG) c.-104+24938_-104+24939insCAAAAA (n.-104+24938_-104+24939insCAAAAA) c.-110-3_-110-2insTTTTTG (n.-110-3_-110-2insTTTTTG) c.743-3_743-2insTTTTTG (n.743-3_743-2insTTTTTG) n.836-3_836-2insTTTTTG | gnomAD v4 |
1 | g.67206908del | CA1002751774 | C1orf141,IL23R | c.529-2del (n.529-2del) c.492-2del (n.492-2del) c.653-2del (n.653-2del) c.492-12666del (n.492-12666del) c.652+6011del (n.652+6011del) c.491+23949del (n.491+23949del) c.582-2del (n.582-2del) c.647+6011del (n.647+6011del) c.648-2del (n.648-2del) c.44-2del (n.44-2del) c.-104+24938del (n.-104+24938del) c.-110-2del (n.-110-2del) c.743-2del (n.743-2del) n.836-2del | gnomAD v3 gnomAD v4 |
1 | g.67206908A= | CA1173042422 | C1orf141,IL23R | c.529-2A= (n.529-2A=) c.492-2A= (n.492-2A=) c.653-2A= (n.653-2A=) c.492-12666A= (n.492-12666A=) c.652+6011A= (n.652+6011A=) c.491+23949A= (n.491+23949A=) c.582-2A= (n.582-2A=) c.647+6011A= (n.647+6011A=) c.648-2A= (n.648-2A=) c.44-2A= (n.44-2A=) c.-104+24938T= (n.-104+24938T=) c.-110-2A= (n.-110-2A=) c.743-2A= (n.743-2A=) n.836-2A= | |
1 | g.67206908A>C | CA340728042 | C1orf141,IL23R | c.529-2A>C (n.529-2A>C) c.492-2A>C (n.492-2A>C) c.653-2A>C (n.653-2A>C) c.492-12666A>C (n.492-12666A>C) c.652+6011A>C (n.652+6011A>C) c.491+23949A>C (n.491+23949A>C) c.582-2A>C (n.582-2A>C) c.647+6011A>C (n.647+6011A>C) c.648-2A>C (n.648-2A>C) c.44-2A>C (n.44-2A>C) c.-104+24938T>G (n.-104+24938T>G) c.-110-2A>C (n.-110-2A>C) c.743-2A>C (n.743-2A>C) n.836-2A>C | |
1 | g.67206908A>G | CA340728043 | C1orf141,IL23R | c.529-2A>G (n.529-2A>G) c.492-2A>G (n.492-2A>G) c.653-2A>G (n.653-2A>G) c.492-12666A>G (n.492-12666A>G) c.652+6011A>G (n.652+6011A>G) c.491+23949A>G (n.491+23949A>G) c.582-2A>G (n.582-2A>G) c.647+6011A>G (n.647+6011A>G) c.648-2A>G (n.648-2A>G) c.44-2A>G (n.44-2A>G) c.-104+24938T>C (n.-104+24938T>C) c.-110-2A>G (n.-110-2A>G) c.743-2A>G (n.743-2A>G) n.836-2A>G | gnomAD v3 gnomAD v4 |
1 | g.67206908A>T | CA899789 | C1orf141,IL23R | c.529-2A>T (n.529-2A>T) c.492-2A>T (n.492-2A>T) c.653-2A>T (n.653-2A>T) c.492-12666A>T (n.492-12666A>T) c.652+6011A>T (n.652+6011A>T) c.491+23949A>T (n.491+23949A>T) c.582-2A>T (n.582-2A>T) c.647+6011A>T (n.647+6011A>T) c.648-2A>T (n.648-2A>T) c.44-2A>T (n.44-2A>T) c.-104+24938T>A (n.-104+24938T>A) c.-110-2A>T (n.-110-2A>T) c.743-2A>T (n.743-2A>T) n.836-2A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.67206908_67206909insAA | CA2574401334 | C1orf141,IL23R | c.529-2_529-1insAA (n.529-2_529-1insAA) c.492-2_492-1insAA (n.492-2_492-1insAA) c.653-2_653-1insAA (n.653-2_653-1insAA) c.492-12666_492-12665insAA (n.492-12666_492-12665insAA) c.652+6011_652+6012insAA (n.652+6011_652+6012insAA) c.491+23949_491+23950insAA (n.491+23949_491+23950insAA) c.582-2_582-1insAA (n.582-2_582-1insAA) c.647+6011_647+6012insAA (n.647+6011_647+6012insAA) c.648-2_648-1insAA (n.648-2_648-1insAA) c.44-2_44-1insAA (n.44-2_44-1insAA) c.-104+24938_-104+24939insTT (n.-104+24938_-104+24939insTT) c.-110-2_-110-1insAA (n.-110-2_-110-1insAA) c.743-2_743-1insAA (n.743-2_743-1insAA) n.836-2_836-1insAA | gnomAD v4 |
1 | g.67206908_67206909del | CA523284960 | C1orf141,IL23R | c.529-2_529-1del (n.529-2_529-1del) c.492-2_492-1del (n.492-2_492-1del) c.653-2_653-1del (n.653-2_653-1del) c.492-12666_492-12665del (n.492-12666_492-12665del) c.652+6011_652+6012del (n.652+6011_652+6012del) c.491+23949_491+23950del (n.491+23949_491+23950del) c.582-2_582-1del (n.582-2_582-1del) c.647+6011_647+6012del (n.647+6011_647+6012del) c.648-2_648-1del (n.648-2_648-1del) c.44-2_44-1del (n.44-2_44-1del) c.-104+24937_-104+24938del (n.-104+24937_-104+24938del) c.-110-2_-110-1del (n.-110-2_-110-1del) c.743-2_743-1del (n.743-2_743-1del) n.836-2_836-1del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206908_67206912del | CA523284961 | C1orf141,IL23R | c.529-2_531del c.492-2_494del c.653-2_655del c.492-12666_492-12662del (n.492-12666_492-12662del) c.652+6011_652+6015del (n.652+6011_652+6015del) c.491+23949_491+23953del (n.491+23949_491+23953del) c.582-2_584del c.647+6011_647+6015del (n.647+6011_647+6015del) c.648-2_650del c.44-2_46del c.-104+24934_-104+24938del (n.-104+24934_-104+24938del) c.-110-2_-108del c.743-2_745del n.836-2_838del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206909_67206912del | CA2743978242 | C1orf141,IL23R | c.529-1_531del c.492-1_494del c.653-1_655del c.492-12665_492-12662del (n.492-12665_492-12662del) c.652+6012_652+6015del (n.652+6012_652+6015del) c.491+23950_491+23953del (n.491+23950_491+23953del) c.582-1_584del c.647+6012_647+6015del (n.647+6012_647+6015del) c.648-1_650del c.44-1_46del c.-104+24935_-104+24938del (n.-104+24935_-104+24938del) c.-110-1_-108del c.743-1_745del n.836-1_838del | |
1 | g.67206908_67206916del | CA523284962 | C1orf141,IL23R | c.529-2_535del c.492-2_498del c.653-2_659del c.492-12666_492-12658del (n.492-12666_492-12658del) c.652+6011_652+6019del (n.652+6011_652+6019del) c.491+23949_491+23957del (n.491+23949_491+23957del) c.582-2_588del c.647+6011_647+6019del (n.647+6011_647+6019del) c.648-2_654del c.44-2_50del c.-104+24930_-104+24938del (n.-104+24930_-104+24938del) c.-110-2_-104del c.743-2_749del n.836-2_842del | gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206908_67206909insTT | CA2646124369 | C1orf141,IL23R | c.529-2_529-1insTT (n.529-2_529-1insTT) c.492-2_492-1insTT (n.492-2_492-1insTT) c.653-2_653-1insTT (n.653-2_653-1insTT) c.492-12666_492-12665insTT (n.492-12666_492-12665insTT) c.652+6011_652+6012insTT (n.652+6011_652+6012insTT) c.491+23949_491+23950insTT (n.491+23949_491+23950insTT) c.582-2_582-1insTT (n.582-2_582-1insTT) c.647+6011_647+6012insTT (n.647+6011_647+6012insTT) c.648-2_648-1insTT (n.648-2_648-1insTT) c.44-2_44-1insTT (n.44-2_44-1insTT) c.-104+24937_-104+24938insAA (n.-104+24937_-104+24938insAA) c.-110-2_-110-1insTT (n.-110-2_-110-1insTT) c.743-2_743-1insTT (n.743-2_743-1insTT) n.836-2_836-1insTT | gnomAD v4 |
1 | g.67206909del | CA523284965 | C1orf141,IL23R | c.529-1del (n.529-1del) c.492-1del (n.492-1del) c.653-1del (n.653-1del) c.492-12665del (n.492-12665del) c.652+6012del (n.652+6012del) c.491+23950del (n.491+23950del) c.582-1del (n.582-1del) c.647+6012del (n.647+6012del) c.648-1del (n.648-1del) c.44-1del (n.44-1del) c.-104+24937del (n.-104+24937del) c.-110-1del (n.-110-1del) c.743-1del (n.743-1del) n.836-1del | gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206909G>A | CA340728044 | C1orf141,IL23R | c.529-1G>A (n.529-1G>A) c.492-1G>A (n.492-1G>A) c.653-1G>A (n.653-1G>A) c.492-12665G>A (n.492-12665G>A) c.652+6012G>A (n.652+6012G>A) c.491+23950G>A (n.491+23950G>A) c.582-1G>A (n.582-1G>A) c.647+6012G>A (n.647+6012G>A) c.648-1G>A (n.648-1G>A) c.44-1G>A (n.44-1G>A) c.-104+24937C>T (n.-104+24937C>T) c.-110-1G>A (n.-110-1G>A) c.743-1G>A (n.743-1G>A) n.836-1G>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206909G>C | CA340728045 | C1orf141,IL23R | c.529-1G>C (n.529-1G>C) c.492-1G>C (n.492-1G>C) c.653-1G>C (n.653-1G>C) c.492-12665G>C (n.492-12665G>C) c.652+6012G>C (n.652+6012G>C) c.491+23950G>C (n.491+23950G>C) c.582-1G>C (n.582-1G>C) c.647+6012G>C (n.647+6012G>C) c.648-1G>C (n.648-1G>C) c.44-1G>C (n.44-1G>C) c.-104+24937C>G (n.-104+24937C>G) c.-110-1G>C (n.-110-1G>C) c.743-1G>C (n.743-1G>C) n.836-1G>C | |
1 | g.67206909G= | CA1173042423 | C1orf141,IL23R | c.529-1G= (n.529-1G=) c.492-1G= (n.492-1G=) c.653-1G= (n.653-1G=) c.492-12665G= (n.492-12665G=) c.652+6012G= (n.652+6012G=) c.491+23950G= (n.491+23950G=) c.582-1G= (n.582-1G=) c.647+6012G= (n.647+6012G=) c.648-1G= (n.648-1G=) c.44-1G= (n.44-1G=) c.-104+24937C= (n.-104+24937C=) c.-110-1G= (n.-110-1G=) c.743-1G= (n.743-1G=) n.836-1G= | |
1 | g.67206909G>T | CA899790 | C1orf141,IL23R | c.529-1G>T (n.529-1G>T) c.492-1G>T (n.492-1G>T) c.653-1G>T (n.653-1G>T) c.492-12665G>T (n.492-12665G>T) c.652+6012G>T (n.652+6012G>T) c.491+23950G>T (n.491+23950G>T) c.582-1G>T (n.582-1G>T) c.647+6012G>T (n.647+6012G>T) c.648-1G>T (n.648-1G>T) c.44-1G>T (n.44-1G>T) c.-104+24937C>A (n.-104+24937C>A) c.-110-1G>T (n.-110-1G>T) c.743-1G>T (n.743-1G>T) n.836-1G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206909_67206911del | CA2646124370 | C1orf141,IL23R | c.529-1_530del c.492-1_493del c.653-1_654del c.492-12665_492-12663del (n.492-12665_492-12663del) c.652+6012_652+6014del (n.652+6012_652+6014del) c.491+23950_491+23952del (n.491+23950_491+23952del) c.582-1_583del c.647+6012_647+6014del (n.647+6012_647+6014del) c.648-1_649del c.44-1_45del c.-104+24935_-104+24937del (n.-104+24935_-104+24937del) c.-110-1_-109del c.743-1_744del n.836-1_837del | gnomAD v4 |
1 | g.67206910T>A | CA340728047 | C1orf141,IL23R | c.529T>A (n.529T>A) c.492T>A (p.Ser164Arg) c.653T>A (p.Val218Glu) c.492-12664T>A (n.492-12664T>A) c.652+6013T>A (n.652+6013T>A) c.491+23951T>A (n.491+23951T>A) c.582T>A (n.582T>A) c.647+6013T>A (n.647+6013T>A) c.648T>A (n.648T>A) c.44T>A (p.Val15Glu) c.-104+24936A>T (n.-104+24936A>T) c.-110T>A (n.-110T>A) c.743T>A (p.Val248Glu) n.836T>A | gnomAD v3 gnomAD v4 |
1 | g.67206910T>C | CA340728049 | C1orf141,IL23R | c.529T>C (n.529T>C) c.492T>C (p.Ser164=) c.653T>C (p.Val218Ala) c.492-12664T>C (n.492-12664T>C) c.652+6013T>C (n.652+6013T>C) c.491+23951T>C (n.491+23951T>C) c.582T>C (n.582T>C) c.647+6013T>C (n.647+6013T>C) c.648T>C (n.648T>C) c.44T>C (p.Val15Ala) c.-104+24936A>G (n.-104+24936A>G) c.-110T>C (n.-110T>C) c.743T>C (p.Val248Ala) n.836T>C | |
1 | g.67206910T>G | CA23532541 | C1orf141,IL23R | c.529T>G (n.529T>G) c.492T>G (p.Ser164Arg) c.653T>G (p.Val218Gly) c.492-12664T>G (n.492-12664T>G) c.652+6013T>G (n.652+6013T>G) c.491+23951T>G (n.491+23951T>G) c.582T>G (n.582T>G) c.647+6013T>G (n.647+6013T>G) c.648T>G (n.648T>G) c.44T>G (p.Val15Gly) c.-104+24936A>C (n.-104+24936A>C) c.-110T>G (n.-110T>G) c.743T>G (p.Val248Gly) n.836T>G | dbSNP gnomAD v4 |
1 | g.67206910T= | CA1140509831 | C1orf141,IL23R | c.529T= (n.529T=) c.492T= (p.Ser164=) c.653T= (p.Val218=) c.492-12664T= (n.492-12664T=) c.652+6013T= (n.652+6013T=) c.491+23951T= (n.491+23951T=) c.582T= (n.582T=) c.647+6013T= (n.647+6013T=) c.648T= (n.648T=) c.44T= (p.Val15=) c.-104+24936A= (n.-104+24936A=) c.-110T= (n.-110T=) c.743T= (p.Val248=) n.836T= | |
1 | g.67206910_67206911insTTT | CA523284970 | C1orf141,IL23R | c.529_530insTTT (n.529_530insTTT) c.492_493insTTT (p.Ser164_Asp165insPhe) c.653_654insTTT (p.Val218_Ile219insLeu) c.492-12664_492-12663insTTT (n.492-12664_492-12663insTTT) c.652+6013_652+6014insTTT (n.652+6013_652+6014insTTT) c.491+23951_491+23952insTTT (n.491+23951_491+23952insTTT) c.582_583insTTT (n.582_583insTTT) c.647+6013_647+6014insTTT (n.647+6013_647+6014insTTT) c.648_649insTTT (n.648_649insTTT) c.44_45insTTT (p.Val15_Ile16insLeu) c.-104+24936_-104+24937insAAA (n.-104+24936_-104+24937insAAA) c.-110_-109insTTT (n.-110_-109insTTT) c.743_744insTTT (p.Val248_Ile249insLeu) n.836_837insTTT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206910_67206911insTTTT | CA523284972 | C1orf141,IL23R | c.529_530insTTTT (n.529_530insTTTT) c.492_493insTTTT (p.Asp165PhefsTer2) c.653_654insTTTT (p.Ile219PhefsTer12) c.492-12664_492-12663insTTTT (n.492-12664_492-12663insTTTT) c.652+6013_652+6014insTTTT (n.652+6013_652+6014insTTTT) c.491+23951_491+23952insTTTT (n.491+23951_491+23952insTTTT) c.582_583insTTTT (n.582_583insTTTT) c.647+6013_647+6014insTTTT (n.647+6013_647+6014insTTTT) c.648_649insTTTT (n.648_649insTTTT) c.44_45insTTTT (p.Ile16PhefsTer12) c.-104+24936_-104+24937insAAAA (n.-104+24936_-104+24937insAAAA) c.-110_-109insTTTT (n.-110_-109insTTTT) c.743_744insTTTT (p.Ile249PhefsTer12) n.836_837insTTTT | gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206910_67206911insTTTTT | CA523284973 | C1orf141,IL23R | c.529_530insTTTTT (n.529_530insTTTTT) c.492_493insTTTTT (p.Asp165PhefsTer?) c.653_654insTTTTT (p.Ile219PhefsTer2) c.492-12664_492-12663insTTTTT (n.492-12664_492-12663insTTTTT) c.652+6013_652+6014insTTTTT (n.652+6013_652+6014insTTTTT) c.491+23951_491+23952insTTTTT (n.491+23951_491+23952insTTTTT) c.582_583insTTTTT (n.582_583insTTTTT) c.647+6013_647+6014insTTTTT (n.647+6013_647+6014insTTTTT) c.648_649insTTTTT (n.648_649insTTTTT) c.44_45insTTTTT (p.Ile16PhefsTer2) c.-104+24936_-104+24937insAAAAA (n.-104+24936_-104+24937insAAAAA) c.-110_-109insTTTTT (n.-110_-109insTTTTT) c.743_744insTTTTT (p.Ile249PhefsTer2) n.836_837insTTTTT | gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206910_67206911insTTTTTT | CA523284974 | C1orf141,IL23R | c.529_530insTTTTTT (n.529_530insTTTTTT) c.492_493insTTTTTT (p.Ser164_Asp165insPhePhe) c.653_654insTTTTTT (p.Val218_Ile219insPheLeu) c.492-12664_492-12663insTTTTTT (n.492-12664_492-12663insTTTTTT) c.652+6013_652+6014insTTTTTT (n.652+6013_652+6014insTTTTTT) c.491+23951_491+23952insTTTTTT (n.491+23951_491+23952insTTTTTT) c.582_583insTTTTTT (n.582_583insTTTTTT) c.647+6013_647+6014insTTTTTT (n.647+6013_647+6014insTTTTTT) c.648_649insTTTTTT (n.648_649insTTTTTT) c.44_45insTTTTTT (p.Val15_Ile16insPheLeu) c.-104+24936_-104+24937insAAAAAA (n.-104+24936_-104+24937insAAAAAA) c.-110_-109insTTTTTT (n.-110_-109insTTTTTT) c.743_744insTTTTTT (p.Val248_Ile249insPheLeu) n.836_837insTTTTTT | gnomAD v2 |
1 | g.67206910_67206911insTTTTTTTTTTTT | CA523284975 | C1orf141,IL23R | c.529_530insTTTTTTTTTTTT (n.529_530insTTTTTTTTTTTT) c.492_493insTTTTTTTTTTTT (p.Ser164_Asp165insPhePhePhePhe) c.653_654insTTTTTTTTTTTT (p.Val218_Ile219insPhePhePheLeu) c.492-12664_492-12663insTTTTTTTTTTTT (n.492-12664_492-12663insTTTTTTTTTTTT) c.652+6013_652+6014insTTTTTTTTTTTT (n.652+6013_652+6014insTTTTTTTTTTTT) c.491+23951_491+23952insTTTTTTTTTTTT (n.491+23951_491+23952insTTTTTTTTTTTT) c.582_583insTTTTTTTTTTTT (n.582_583insTTTTTTTTTTTT) c.647+6013_647+6014insTTTTTTTTTTTT (n.647+6013_647+6014insTTTTTTTTTTTT) c.648_649insTTTTTTTTTTTT (n.648_649insTTTTTTTTTTTT) c.44_45insTTTTTTTTTTTT (p.Val15_Ile16insPhePhePheLeu) c.-104+24936_-104+24937insAAAAAAAAAAAA (n.-104+24936_-104+24937insAAAAAAAAAAAA) c.-110_-109insTTTTTTTTTTTT (n.-110_-109insTTTTTTTTTTTT) c.743_744insTTTTTTTTTTTT (p.Val248_Ile249insPhePhePheLeu) n.836_837insTTTTTTTTTTTT | gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206910_67206911insTTTTTTTTTTTTT | CA523284976 | C1orf141,IL23R | c.529_530insTTTTTTTTTTTTT (n.529_530insTTTTTTTTTTTTT) c.492_493insTTTTTTTTTTTTT (p.Asp165PhefsTer5) c.653_654insTTTTTTTTTTTTT (p.Ile219PhefsTer15) c.492-12664_492-12663insTTTTTTTTTTTTT (n.492-12664_492-12663insTTTTTTTTTTTTT) c.652+6013_652+6014insTTTTTTTTTTTTT (n.652+6013_652+6014insTTTTTTTTTTTTT) c.491+23951_491+23952insTTTTTTTTTTTTT (n.491+23951_491+23952insTTTTTTTTTTTTT) c.582_583insTTTTTTTTTTTTT (n.582_583insTTTTTTTTTTTTT) c.647+6013_647+6014insTTTTTTTTTTTTT (n.647+6013_647+6014insTTTTTTTTTTTTT) c.648_649insTTTTTTTTTTTTT (n.648_649insTTTTTTTTTTTTT) c.44_45insTTTTTTTTTTTTT (p.Ile16PhefsTer15) c.-104+24936_-104+24937insAAAAAAAAAAAAA (n.-104+24936_-104+24937insAAAAAAAAAAAAA) c.-110_-109insTTTTTTTTTTTTT (n.-110_-109insTTTTTTTTTTTTT) c.743_744insTTTTTTTTTTTTT (p.Ile249PhefsTer15) n.836_837insTTTTTTTTTTTTT | gnomAD v2 |
1 | g.67206910dup | CA1002751786 | C1orf141,IL23R | c.529dup (n.529dup) c.492dup (p.Asp165Ter) c.653dup (p.Ile219AspfsTer11) c.492-12664dup (n.492-12664dup) c.652+6013dup (n.652+6013dup) c.491+23951dup (n.491+23951dup) c.582dup (n.582dup) c.647+6013dup (n.647+6013dup) c.648dup (n.648dup) c.44dup (p.Ile16AspfsTer11) c.-104+24936dup (n.-104+24936dup) c.-110dup (n.-110dup) c.743dup (p.Ile249AspfsTer11) n.836dup | gnomAD v3 gnomAD v4 |
1 | g.67206910_67206911insTG | CA1002751800 | C1orf141,IL23R | c.529_530insTG (n.529_530insTG) c.492_493insTG (p.Asp165TrpfsTer?) c.653_654insTG (p.Ile219GlyfsTer14) c.492-12664_492-12663insTG (n.492-12664_492-12663insTG) c.652+6013_652+6014insTG (n.652+6013_652+6014insTG) c.491+23951_491+23952insTG (n.491+23951_491+23952insTG) c.582_583insTG (n.582_583insTG) c.647+6013_647+6014insTG (n.647+6013_647+6014insTG) c.648_649insTG (n.648_649insTG) c.44_45insTG (p.Ile16GlyfsTer14) c.-104+24935_-104+24936insCA (n.-104+24935_-104+24936insCA) c.-110_-109insTG (n.-110_-109insTG) c.743_744insTG (p.Ile249GlyfsTer14) n.836_837insTG | gnomAD v3 gnomAD v4 |
1 | g.67206910_67206911insTTGG | CA2646124372 | C1orf141,IL23R | c.529_530insTTGG (n.529_530insTTGG) c.492_493insTTGG (p.Asp165LeufsTer15) c.653_654insTTGG (p.Ile219TrpfsTer12) c.492-12664_492-12663insTTGG (n.492-12664_492-12663insTTGG) c.652+6013_652+6014insTTGG (n.652+6013_652+6014insTTGG) c.491+23951_491+23952insTTGG (n.491+23951_491+23952insTTGG) c.582_583insTTGG (n.582_583insTTGG) c.647+6013_647+6014insTTGG (n.647+6013_647+6014insTTGG) c.648_649insTTGG (n.648_649insTTGG) c.44_45insTTGG (p.Ile16TrpfsTer12) c.-104+24935_-104+24936insCCAA (n.-104+24935_-104+24936insCCAA) c.-110_-109insTTGG (n.-110_-109insTTGG) c.743_744insTTGG (p.Ile249TrpfsTer12) n.836_837insTTGG | gnomAD v4 |
1 | g.67206911del | CA2646124371 | C1orf141,IL23R | c.530del (n.530del) c.493del (p.Asp165IlefsTer?) c.654del (p.Ile219TyrfsTer13) c.492-12663del (n.492-12663del) c.652+6014del (n.652+6014del) c.491+23952del (n.491+23952del) c.583del (n.583del) c.647+6014del (n.647+6014del) c.649del (n.649del) c.45del (p.Ile16TyrfsTer13) c.-104+24935del (n.-104+24935del) c.-109del (n.-109del) c.744del (p.Ile249TyrfsTer13) n.837del | gnomAD v4 |
1 | g.67206911G>A | CA418269516 | C1orf141,IL23R | c.530G>A (n.530G>A) c.493G>A (p.Asp165Asn) c.654G>A (p.Val218=) c.492-12663G>A (n.492-12663G>A) c.652+6014G>A (n.652+6014G>A) c.491+23952G>A (n.491+23952G>A) c.583G>A (n.583G>A) c.647+6014G>A (n.647+6014G>A) c.649G>A (n.649G>A) c.45G>A (p.Val15=) c.-104+24935C>T (n.-104+24935C>T) c.-109G>A (n.-109G>A) c.744G>A (p.Val248=) n.837G>A | gnomAD v4 |
1 | g.67206911G>C | CA418269517 | C1orf141,IL23R | c.530G>C (n.530G>C) c.493G>C (p.Asp165His) c.654G>C (p.Val218=) c.492-12663G>C (n.492-12663G>C) c.652+6014G>C (n.652+6014G>C) c.491+23952G>C (n.491+23952G>C) c.583G>C (n.583G>C) c.647+6014G>C (n.647+6014G>C) c.649G>C (n.649G>C) c.45G>C (p.Val15=) c.-104+24935C>G (n.-104+24935C>G) c.-109G>C (n.-109G>C) c.744G>C (p.Val248=) n.837G>C | |
1 | g.67206911G= | CA1173042424 | C1orf141,IL23R | c.530G= (n.530G=) c.493G= (p.Asp165=) c.654G= (p.Val218=) c.492-12663G= (n.492-12663G=) c.652+6014G= (n.652+6014G=) c.491+23952G= (n.491+23952G=) c.583G= (n.583G=) c.647+6014G= (n.647+6014G=) c.649G= (n.649G=) c.45G= (p.Val15=) c.-104+24935C= (n.-104+24935C=) c.-109G= (n.-109G=) c.744G= (p.Val248=) n.837G= | |
1 | g.67206911G>T | CA418269518 | C1orf141,IL23R | c.530G>T (n.530G>T) c.493G>T (p.Asp165Tyr) c.654G>T (p.Val218=) c.492-12663G>T (n.492-12663G>T) c.652+6014G>T (n.652+6014G>T) c.491+23952G>T (n.491+23952G>T) c.583G>T (n.583G>T) c.647+6014G>T (n.647+6014G>T) c.649G>T (n.649G>T) c.45G>T (p.Val15=) c.-104+24935C>A (n.-104+24935C>A) c.-109G>T (n.-109G>T) c.744G>T (p.Val248=) n.837G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206911_67206912del | CA523284980 | C1orf141,IL23R | c.530_531del (n.530_531del) c.493_494del (p.Asp165TyrfsTer13) c.654_655del (p.Ile219ThrfsTer10) c.492-12663_492-12662del (n.492-12663_492-12662del) c.652+6014_652+6015del (n.652+6014_652+6015del) c.491+23952_491+23953del (n.491+23952_491+23953del) c.583_584del (n.583_584del) c.647+6014_647+6015del (n.647+6014_647+6015del) c.649_650del (n.649_650del) c.45_46del (p.Ile16ThrfsTer10) c.-104+24934_-104+24935del (n.-104+24934_-104+24935del) c.-109_-108del (n.-109_-108del) c.744_745del (p.Ile249ThrfsTer10) n.837_838del | gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206911_67206916del | CA523284979 | C1orf141,IL23R | c.530_535del (n.530_535del) c.493_498del (p.Asp165_Thr166del) c.654_659del (p.Ile219_Pro220del) c.492-12663_492-12658del (n.492-12663_492-12658del) c.652+6014_652+6019del (n.652+6014_652+6019del) c.491+23952_491+23957del (n.491+23952_491+23957del) c.583_588del (n.583_588del) c.647+6014_647+6019del (n.647+6014_647+6019del) c.649_654del (n.649_654del) c.45_50del (p.Ile16_Pro17del) c.-104+24930_-104+24935del (n.-104+24930_-104+24935del) c.-109_-104del (n.-109_-104del) c.744_749del (p.Ile249_Pro250del) n.837_842del | gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206911_67206912insTAT | CA2646124373 | C1orf141,IL23R | c.530_531insTAT (n.530_531insTAT) c.493_494insTAT (p.Asp165delinsValTyr) c.654_655insTAT (p.Val218_Ile219insTyr) c.492-12663_492-12662insTAT (n.492-12663_492-12662insTAT) c.652+6014_652+6015insTAT (n.652+6014_652+6015insTAT) c.491+23952_491+23953insTAT (n.491+23952_491+23953insTAT) c.583_584insTAT (n.583_584insTAT) c.647+6014_647+6015insTAT (n.647+6014_647+6015insTAT) c.649_650insTAT (n.649_650insTAT) c.45_46insTAT (p.Val15_Ile16insTyr) c.-104+24934_-104+24935insATA (n.-104+24934_-104+24935insATA) c.-109_-108insTAT (n.-109_-108insTAT) c.744_745insTAT (p.Val248_Ile249insTyr) n.837_838insTAT | gnomAD v4 |
1 | g.67206911_67206912insTTTTT | CA2646124374 | C1orf141,IL23R | c.530_531insTTTTT (n.530_531insTTTTT) c.493_494insTTTTT (p.Asp165ValfsTer?) c.654_655insTTTTT (p.Ile219PhefsTer15) c.492-12663_492-12662insTTTTT (n.492-12663_492-12662insTTTTT) c.652+6014_652+6015insTTTTT (n.652+6014_652+6015insTTTTT) c.491+23952_491+23953insTTTTT (n.491+23952_491+23953insTTTTT) c.583_584insTTTTT (n.583_584insTTTTT) c.647+6014_647+6015insTTTTT (n.647+6014_647+6015insTTTTT) c.649_650insTTTTT (n.649_650insTTTTT) c.45_46insTTTTT (p.Ile16PhefsTer15) c.-104+24934_-104+24935insAAAAA (n.-104+24934_-104+24935insAAAAA) c.-109_-108insTTTTT (n.-109_-108insTTTTT) c.744_745insTTTTT (p.Ile249PhefsTer15) n.837_838insTTTTT | gnomAD v4 |
1 | g.67206912del | CA2743978243 | C1orf141,IL23R | c.531del (n.531del) c.494del (p.Asp165ValfsTer?) c.655del (p.Ile219TyrfsTer13) c.492-12662del (n.492-12662del) c.652+6015del (n.652+6015del) c.491+23953del (n.491+23953del) c.584del (n.584del) c.647+6015del (n.647+6015del) c.650del (n.650del) c.46del (p.Ile16TyrfsTer13) c.-104+24934del (n.-104+24934del) c.-108del (n.-108del) c.745del (p.Ile249TyrfsTer13) n.838del | |
1 | g.67206912A= | CA1173042425 | C1orf141,IL23R | c.531A= (n.531A=) c.494A= (p.Asp165=) c.655A= (p.Ile219=) c.492-12662A= (n.492-12662A=) c.652+6015A= (n.652+6015A=) c.491+23953A= (n.491+23953A=) c.584A= (n.584A=) c.647+6015A= (n.647+6015A=) c.650A= (n.650A=) c.46A= (p.Ile16=) c.-104+24934T= (n.-104+24934T=) c.-108A= (n.-108A=) c.745A= (p.Ile249=) n.838A= | |
1 | g.67206912A>C | CA340728052 | C1orf141,IL23R | c.531A>C (n.531A>C) c.494A>C (p.Asp165Ala) c.655A>C (p.Ile219Leu) c.492-12662A>C (n.492-12662A>C) c.652+6015A>C (n.652+6015A>C) c.491+23953A>C (n.491+23953A>C) c.584A>C (n.584A>C) c.647+6015A>C (n.647+6015A>C) c.650A>C (n.650A>C) c.46A>C (p.Ile16Leu) c.-104+24934T>G (n.-104+24934T>G) c.-108A>C (n.-108A>C) c.745A>C (p.Ile249Leu) n.838A>C | gnomAD v4 |
1 | g.67206912A>G | CA340728054 | C1orf141,IL23R | c.531A>G (n.531A>G) c.494A>G (p.Asp165Gly) c.655A>G (p.Ile219Val) c.492-12662A>G (n.492-12662A>G) c.652+6015A>G (n.652+6015A>G) c.491+23953A>G (n.491+23953A>G) c.584A>G (n.584A>G) c.647+6015A>G (n.647+6015A>G) c.650A>G (n.650A>G) c.46A>G (p.Ile16Val) c.-104+24934T>C (n.-104+24934T>C) c.-108A>G (n.-108A>G) c.745A>G (p.Ile249Val) n.838A>G | gnomAD v3 gnomAD v4 |
1 | g.67206912A>T | CA340728053 | C1orf141,IL23R | c.531A>T (n.531A>T) c.494A>T (p.Asp165Val) c.655A>T (p.Ile219Leu) c.492-12662A>T (n.492-12662A>T) c.652+6015A>T (n.652+6015A>T) c.491+23953A>T (n.491+23953A>T) c.584A>T (n.584A>T) c.647+6015A>T (n.647+6015A>T) c.650A>T (n.650A>T) c.46A>T (p.Ile16Leu) c.-104+24934T>A (n.-104+24934T>A) c.-108A>T (n.-108A>T) c.745A>T (p.Ile249Leu) n.838A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206913T>A | CA340728055 | C1orf141,IL23R | c.532T>A (n.532T>A) c.495T>A (p.Asp165Glu) c.656T>A (p.Ile219Lys) c.492-12661T>A (n.492-12661T>A) c.652+6016T>A (n.652+6016T>A) c.491+23954T>A (n.491+23954T>A) c.585T>A (n.585T>A) c.647+6016T>A (n.647+6016T>A) c.651T>A (n.651T>A) c.47T>A (p.Ile16Lys) c.-104+24933A>T (n.-104+24933A>T) c.-107T>A (n.-107T>A) c.746T>A (p.Ile249Lys) n.839T>A | gnomAD v4 |
1 | g.67206913T>C | CA340728057 | C1orf141,IL23R | c.532T>C (n.532T>C) c.495T>C (p.Asp165=) c.656T>C (p.Ile219Thr) c.492-12661T>C (n.492-12661T>C) c.652+6016T>C (n.652+6016T>C) c.491+23954T>C (n.491+23954T>C) c.585T>C (n.585T>C) c.647+6016T>C (n.647+6016T>C) c.651T>C (n.651T>C) c.47T>C (p.Ile16Thr) c.-104+24933A>G (n.-104+24933A>G) c.-107T>C (n.-107T>C) c.746T>C (p.Ile249Thr) n.839T>C | |
1 | g.67206913T>G | CA340728058 | C1orf141,IL23R | c.532T>G (n.532T>G) c.495T>G (p.Asp165Glu) c.656T>G (p.Ile219Arg) c.492-12661T>G (n.492-12661T>G) c.652+6016T>G (n.652+6016T>G) c.491+23954T>G (n.491+23954T>G) c.585T>G (n.585T>G) c.647+6016T>G (n.647+6016T>G) c.651T>G (n.651T>G) c.47T>G (p.Ile16Arg) c.-104+24933A>C (n.-104+24933A>C) c.-107T>G (n.-107T>G) c.746T>G (p.Ile249Arg) n.839T>G | |
1 | g.67206913_67206914insTTTT | CA2646124375 | C1orf141,IL23R | c.532_533insTTTT (n.532_533insTTTT) c.495_496insTTTT (p.Thr166PhefsTer14) c.656_657insTTTT (p.Pro220PhefsTer11) c.492-12661_492-12660insTTTT (n.492-12661_492-12660insTTTT) c.652+6016_652+6017insTTTT (n.652+6016_652+6017insTTTT) c.491+23954_491+23955insTTTT (n.491+23954_491+23955insTTTT) c.585_586insTTTT (n.585_586insTTTT) c.647+6016_647+6017insTTTT (n.647+6016_647+6017insTTTT) c.651_652insTTTT (n.651_652insTTTT) c.47_48insTTTT (p.Pro17PhefsTer11) c.-104+24933_-104+24934insAAAA (n.-104+24933_-104+24934insAAAA) c.-107_-106insTTTT (n.-107_-106insTTTT) c.746_747insTTTT (p.Pro250PhefsTer11) n.839_840insTTTT | gnomAD v4 |
1 | g.67206913_67206916delinsTACC | CA1173042426 | C1orf141,IL23R | c.532_535delinsTACC (n.532_535delinsTACC) c.495_498delinsTACC (p.Asp165=) c.656_659delinsTACC (p.Ile219=) c.492-12661_492-12658delinsTACC (n.492-12661_492-12658delinsTACC) c.652+6016_652+6019delinsTACC (n.652+6016_652+6019delinsTACC) c.491+23954_491+23957delinsTACC (n.491+23954_491+23957delinsTACC) c.585_588delinsTACC (n.585_588delinsTACC) c.647+6016_647+6019delinsTACC (n.647+6016_647+6019delinsTACC) c.651_654delinsTACC (n.651_654delinsTACC) c.47_50delinsTACC (p.Ile16=) c.-104+24930_-104+24933delinsGGTA (n.-104+24930_-104+24933delinsGGTA) c.-107_-104delinsTACC (n.-107_-104delinsTACC) c.746_749delinsTACC (p.Ile249=) n.839_842delinsTACC | |
1 | g.67206914A= | CA1173042427 | C1orf141,IL23R | c.533A= (n.533A=) c.496A= (p.Thr166=) c.657A= (p.Ile219=) c.492-12660A= (n.492-12660A=) c.652+6017A= (n.652+6017A=) c.491+23955A= (n.491+23955A=) c.586A= (n.586A=) c.647+6017A= (n.647+6017A=) c.652A= (n.652A=) c.48A= (p.Ile16=) c.-104+24932T= (n.-104+24932T=) c.-106A= (n.-106A=) c.747A= (p.Ile249=) n.840A= | |
1 | g.67206914A>C | CA418269520 | C1orf141,IL23R | c.533A>C (n.533A>C) c.496A>C (p.Thr166Pro) c.657A>C (p.Ile219=) c.492-12660A>C (n.492-12660A>C) c.652+6017A>C (n.652+6017A>C) c.491+23955A>C (n.491+23955A>C) c.586A>C (n.586A>C) c.647+6017A>C (n.647+6017A>C) c.652A>C (n.652A>C) c.48A>C (p.Ile16=) c.-104+24932T>G (n.-104+24932T>G) c.-106A>C (n.-106A>C) c.747A>C (p.Ile249=) n.840A>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206914A>G | CA340728060 | C1orf141,IL23R | c.533A>G (n.533A>G) c.496A>G (p.Thr166Ala) c.657A>G (p.Ile219Met) c.492-12660A>G (n.492-12660A>G) c.652+6017A>G (n.652+6017A>G) c.491+23955A>G (n.491+23955A>G) c.586A>G (n.586A>G) c.647+6017A>G (n.647+6017A>G) c.652A>G (n.652A>G) c.48A>G (p.Ile16Met) c.-104+24932T>C (n.-104+24932T>C) c.-106A>G (n.-106A>G) c.747A>G (p.Ile249Met) n.840A>G | |
1 | g.67206914A>T | CA418269519 | C1orf141,IL23R | c.533A>T (n.533A>T) c.496A>T (p.Thr166Ser) c.657A>T (p.Ile219=) c.492-12660A>T (n.492-12660A>T) c.652+6017A>T (n.652+6017A>T) c.491+23955A>T (n.491+23955A>T) c.586A>T (n.586A>T) c.647+6017A>T (n.647+6017A>T) c.652A>T (n.652A>T) c.48A>T (p.Ile16=) c.-104+24932T>A (n.-104+24932T>A) c.-106A>T (n.-106A>T) c.747A>T (p.Ile249=) n.840A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206914_67206916del | CA523284985 | C1orf141,IL23R | c.533_535del (n.533_535del) c.496_498del (p.Thr166del) c.657_659del (p.Pro220del) c.492-12660_492-12658del (n.492-12660_492-12658del) c.652+6017_652+6019del (n.652+6017_652+6019del) c.491+23955_491+23957del (n.491+23955_491+23957del) c.586_588del (n.586_588del) c.647+6017_647+6019del (n.647+6017_647+6019del) c.652_654del (n.652_654del) c.48_50del (p.Pro17del) c.-104+24930_-104+24932del (n.-104+24930_-104+24932del) c.-106_-104del (n.-106_-104del) c.747_749del (p.Pro250del) n.840_842del | dbSNP gnomAD v2 gnomAD v4 |
1 | g.67206915C>A | CA340728064 | C1orf141,IL23R | c.534C>A (n.534C>A) c.497C>A (p.Thr166Asn) c.658C>A (p.Pro220Thr) c.492-12659C>A (n.492-12659C>A) c.652+6018C>A (n.652+6018C>A) c.491+23956C>A (n.491+23956C>A) c.587C>A (n.587C>A) c.647+6018C>A (n.647+6018C>A) c.653C>A (n.653C>A) c.49C>A (p.Pro17Thr) c.-104+24931G>T (n.-104+24931G>T) c.-105C>A (n.-105C>A) c.748C>A (p.Pro250Thr) n.841C>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206915C>G | CA340728063 | C1orf141,IL23R | c.534C>G (n.534C>G) c.497C>G (p.Thr166Ser) c.658C>G (p.Pro220Ala) c.492-12659C>G (n.492-12659C>G) c.652+6018C>G (n.652+6018C>G) c.491+23956C>G (n.491+23956C>G) c.587C>G (n.587C>G) c.647+6018C>G (n.647+6018C>G) c.653C>G (n.653C>G) c.49C>G (p.Pro17Ala) c.-104+24931G>C (n.-104+24931G>C) c.-105C>G (n.-105C>G) c.748C>G (p.Pro250Ala) n.841C>G | |
1 | g.67206915C>T | CA340728062 | C1orf141,IL23R | c.534C>T (n.534C>T) c.497C>T (p.Thr166Ile) c.658C>T (p.Pro220Ser) c.492-12659C>T (n.492-12659C>T) c.652+6018C>T (n.652+6018C>T) c.491+23956C>T (n.491+23956C>T) c.587C>T (n.587C>T) c.647+6018C>T (n.647+6018C>T) c.653C>T (n.653C>T) c.49C>T (p.Pro17Ser) c.-104+24931G>A (n.-104+24931G>A) c.-105C>T (n.-105C>T) c.748C>T (p.Pro250Ser) n.841C>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206916C>A | CA340728067 | C1orf141,IL23R | c.535C>A (n.535C>A) c.498C>A (p.Thr166=) c.659C>A (p.Pro220His) c.492-12658C>A (n.492-12658C>A) c.652+6019C>A (n.652+6019C>A) c.491+23957C>A (n.491+23957C>A) c.588C>A (n.588C>A) c.647+6019C>A (n.647+6019C>A) c.654C>A (n.654C>A) c.50C>A (p.Pro17His) c.-104+24930G>T (n.-104+24930G>T) c.-104C>A (n.-104C>A) c.749C>A (p.Pro250His) n.842C>A | gnomAD v4 |
1 | g.67206916C>G | CA340728070 | C1orf141,IL23R | c.535C>G (n.535C>G) c.498C>G (p.Thr166=) c.659C>G (p.Pro220Arg) c.492-12658C>G (n.492-12658C>G) c.652+6019C>G (n.652+6019C>G) c.491+23957C>G (n.491+23957C>G) c.588C>G (n.588C>G) c.647+6019C>G (n.647+6019C>G) c.654C>G (n.654C>G) c.50C>G (p.Pro17Arg) c.-104+24930G>C (n.-104+24930G>C) c.-104C>G (n.-104C>G) c.749C>G (p.Pro250Arg) n.842C>G | |
1 | g.67206916C>T | CA340728068 | C1orf141,IL23R | c.535C>T (n.535C>T) c.498C>T (p.Thr166=) c.659C>T (p.Pro220Leu) c.492-12658C>T (n.492-12658C>T) c.652+6019C>T (n.652+6019C>T) c.491+23957C>T (n.491+23957C>T) c.588C>T (n.588C>T) c.647+6019C>T (n.647+6019C>T) c.654C>T (n.654C>T) c.50C>T (p.Pro17Leu) c.-104+24930G>A (n.-104+24930G>A) c.-104C>T (n.-104C>T) c.749C>T (p.Pro250Leu) n.842C>T | gnomAD v3 gnomAD v4 |
1 | g.67206917T>A | CA899791 | C1orf141,IL23R | c.536T>A (n.536T>A) c.499T>A (p.Phe167Ile) c.660T>A (p.Pro220=) c.492-12657T>A (n.492-12657T>A) c.652+6020T>A (n.652+6020T>A) c.491+23958T>A (n.491+23958T>A) c.589T>A (n.589T>A) c.647+6020T>A (n.647+6020T>A) c.655T>A (n.655T>A) c.51T>A (p.Pro17=) c.-104+24929A>T (n.-104+24929A>T) c.-103T>A (n.-103T>A) c.750T>A (p.Pro250=) n.843T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206917T>C | CA418269522 | C1orf141,IL23R | c.536T>C (n.536T>C) c.499T>C (p.Phe167Leu) c.660T>C (p.Pro220=) c.492-12657T>C (n.492-12657T>C) c.652+6020T>C (n.652+6020T>C) c.491+23958T>C (n.491+23958T>C) c.589T>C (n.589T>C) c.647+6020T>C (n.647+6020T>C) c.655T>C (n.655T>C) c.51T>C (p.Pro17=) c.-104+24929A>G (n.-104+24929A>G) c.-103T>C (n.-103T>C) c.750T>C (p.Pro250=) n.843T>C | |
1 | g.67206917T>G | CA418269523 | C1orf141,IL23R | c.536T>G (n.536T>G) c.499T>G (p.Phe167Val) c.660T>G (p.Pro220=) c.492-12657T>G (n.492-12657T>G) c.652+6020T>G (n.652+6020T>G) c.491+23958T>G (n.491+23958T>G) c.589T>G (n.589T>G) c.647+6020T>G (n.647+6020T>G) c.655T>G (n.655T>G) c.51T>G (p.Pro17=) c.-104+24929A>C (n.-104+24929A>C) c.-103T>G (n.-103T>G) c.750T>G (p.Pro250=) n.843T>G | |
1 | g.67206917T= | CA1141427871 | C1orf141,IL23R | c.536T= (n.536T=) c.499T= (p.Phe167=) c.660T= (p.Pro220=) c.492-12657T= (n.492-12657T=) c.652+6020T= (n.652+6020T=) c.491+23958T= (n.491+23958T=) c.589T= (n.589T=) c.647+6020T= (n.647+6020T=) c.655T= (n.655T=) c.51T= (p.Pro17=) c.-104+24929A= (n.-104+24929A=) c.-103T= (n.-103T=) c.750T= (p.Pro250=) n.843T= | |
1 | g.67206918T>A | CA340728075 | C1orf141,IL23R | c.537T>A (n.537T>A) c.500T>A (p.Phe167Tyr) c.661T>A (p.Ser221Thr) c.492-12656T>A (n.492-12656T>A) c.652+6021T>A (n.652+6021T>A) c.491+23959T>A (n.491+23959T>A) c.590T>A (n.590T>A) c.647+6021T>A (n.647+6021T>A) c.656T>A (n.656T>A) c.52T>A (p.Ser18Thr) c.-104+24928A>T (n.-104+24928A>T) c.-102T>A (n.-102T>A) c.751T>A (p.Ser251Thr) n.844T>A | |
1 | g.67206918T>C | CA340728072 | C1orf141,IL23R | c.537T>C (n.537T>C) c.500T>C (p.Phe167Ser) c.661T>C (p.Ser221Pro) c.492-12656T>C (n.492-12656T>C) c.652+6021T>C (n.652+6021T>C) c.491+23959T>C (n.491+23959T>C) c.590T>C (n.590T>C) c.647+6021T>C (n.647+6021T>C) c.656T>C (n.656T>C) c.52T>C (p.Ser18Pro) c.-104+24928A>G (n.-104+24928A>G) c.-102T>C (n.-102T>C) c.751T>C (p.Ser251Pro) n.844T>C | |
1 | g.67206918T>G | CA340728074 | C1orf141,IL23R | c.537T>G (n.537T>G) c.500T>G (p.Phe167Cys) c.661T>G (p.Ser221Ala) c.492-12656T>G (n.492-12656T>G) c.652+6021T>G (n.652+6021T>G) c.491+23959T>G (n.491+23959T>G) c.590T>G (n.590T>G) c.647+6021T>G (n.647+6021T>G) c.656T>G (n.656T>G) c.52T>G (p.Ser18Ala) c.-104+24928A>C (n.-104+24928A>C) c.-102T>G (n.-102T>G) c.751T>G (p.Ser251Ala) n.844T>G | |
1 | g.67206919C>A | CA340728077 | C1orf141,IL23R | c.538C>A (n.538C>A) c.501C>A (p.Phe167Leu) c.662C>A (p.Ser221Tyr) c.492-12655C>A (n.492-12655C>A) c.652+6022C>A (n.652+6022C>A) c.491+23960C>A (n.491+23960C>A) c.591C>A (n.591C>A) c.647+6022C>A (n.647+6022C>A) c.657C>A (n.657C>A) c.53C>A (p.Ser18Tyr) c.-104+24927G>T (n.-104+24927G>T) c.-101C>A (n.-101C>A) c.752C>A (p.Ser251Tyr) n.845C>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206919C= | CA1147874410 | C1orf141,IL23R | c.538C= (n.538C=) c.501C= (p.Phe167=) c.662C= (p.Ser221=) c.492-12655C= (n.492-12655C=) c.652+6022C= (n.652+6022C=) c.491+23960C= (n.491+23960C=) c.591C= (n.591C=) c.647+6022C= (n.647+6022C=) c.657C= (n.657C=) c.53C= (p.Ser18=) c.-104+24927G= (n.-104+24927G=) c.-101C= (n.-101C=) c.752C= (p.Ser251=) n.845C= | |
1 | g.67206919C>G | CA340728079 | C1orf141,IL23R | c.538C>G (n.538C>G) c.501C>G (p.Phe167Leu) c.662C>G (p.Ser221Cys) c.492-12655C>G (n.492-12655C>G) c.652+6022C>G (n.652+6022C>G) c.491+23960C>G (n.491+23960C>G) c.591C>G (n.591C>G) c.647+6022C>G (n.647+6022C>G) c.657C>G (n.657C>G) c.53C>G (p.Ser18Cys) c.-104+24927G>C (n.-104+24927G>C) c.-101C>G (n.-101C>G) c.752C>G (p.Ser251Cys) n.845C>G | gnomAD v4 |
1 | g.67206919C>T | CA899792 | C1orf141,IL23R | c.538C>T (n.538C>T) c.501C>T (p.Phe167=) c.662C>T (p.Ser221Phe) c.492-12655C>T (n.492-12655C>T) c.652+6022C>T (n.652+6022C>T) c.491+23960C>T (n.491+23960C>T) c.591C>T (n.591C>T) c.647+6022C>T (n.647+6022C>T) c.657C>T (n.657C>T) c.53C>T (p.Ser18Phe) c.-104+24927G>A (n.-104+24927G>A) c.-101C>T (n.-101C>T) c.752C>T (p.Ser251Phe) n.845C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206920T>A | CA418269524 | C1orf141,IL23R | c.539T>A (n.539T>A) c.502T>A (p.Cys168Ser) c.663T>A (p.Ser221=) c.492-12654T>A (n.492-12654T>A) c.652+6023T>A (n.652+6023T>A) c.491+23961T>A (n.491+23961T>A) c.592T>A (n.592T>A) c.647+6023T>A (n.647+6023T>A) c.658T>A (n.658T>A) c.54T>A (p.Ser18=) c.-104+24926A>T (n.-104+24926A>T) c.-100T>A (n.-100T>A) c.753T>A (p.Ser251=) n.846T>A | gnomAD v4 |
1 | g.67206920T>C | CA899793 | C1orf141,IL23R | c.539T>C (n.539T>C) c.502T>C (p.Cys168Arg) c.663T>C (p.Ser221=) c.492-12654T>C (n.492-12654T>C) c.652+6023T>C (n.652+6023T>C) c.491+23961T>C (n.491+23961T>C) c.592T>C (n.592T>C) c.647+6023T>C (n.647+6023T>C) c.658T>C (n.658T>C) c.54T>C (p.Ser18=) c.-104+24926A>G (n.-104+24926A>G) c.-100T>C (n.-100T>C) c.753T>C (p.Ser251=) n.846T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206920T>G | CA418269525 | C1orf141,IL23R | c.539T>G (n.539T>G) c.502T>G (p.Cys168Gly) c.663T>G (p.Ser221=) c.492-12654T>G (n.492-12654T>G) c.652+6023T>G (n.652+6023T>G) c.491+23961T>G (n.491+23961T>G) c.592T>G (n.592T>G) c.647+6023T>G (n.647+6023T>G) c.658T>G (n.658T>G) c.54T>G (p.Ser18=) c.-104+24926A>C (n.-104+24926A>C) c.-100T>G (n.-100T>G) c.753T>G (p.Ser251=) n.846T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206920T= | CA1145502440 | C1orf141,IL23R | c.539T= (n.539T=) c.502T= (p.Cys168=) c.663T= (p.Ser221=) c.492-12654T= (n.492-12654T=) c.652+6023T= (n.652+6023T=) c.491+23961T= (n.491+23961T=) c.592T= (n.592T=) c.647+6023T= (n.647+6023T=) c.658T= (n.658T=) c.54T= (p.Ser18=) c.-104+24926A= (n.-104+24926A=) c.-100T= (n.-100T=) c.753T= (p.Ser251=) n.846T= | |
1 | g.67206921G>A | CA340728081 | C1orf141,IL23R | c.540G>A (n.540G>A) c.503G>A (p.Cys168Tyr) c.664G>A (p.Ala222Thr) c.492-12653G>A (n.492-12653G>A) c.652+6024G>A (n.652+6024G>A) c.491+23962G>A (n.491+23962G>A) c.593G>A (n.593G>A) c.647+6024G>A (n.647+6024G>A) c.659G>A (n.659G>A) c.55G>A (p.Ala19Thr) c.-104+24925C>T (n.-104+24925C>T) c.-99G>A (n.-99G>A) c.754G>A (p.Ala252Thr) n.847G>A | |
1 | g.67206921G>C | CA340728083 | C1orf141,IL23R | c.540G>C (n.540G>C) c.503G>C (p.Cys168Ser) c.664G>C (p.Ala222Pro) c.492-12653G>C (n.492-12653G>C) c.652+6024G>C (n.652+6024G>C) c.491+23962G>C (n.491+23962G>C) c.593G>C (n.593G>C) c.647+6024G>C (n.647+6024G>C) c.659G>C (n.659G>C) c.55G>C (p.Ala19Pro) c.-104+24925C>G (n.-104+24925C>G) c.-99G>C (n.-99G>C) c.754G>C (p.Ala252Pro) n.847G>C | |
1 | g.67206921G= | CA1173042428 | C1orf141,IL23R | c.540G= (n.540G=) c.503G= (p.Cys168=) c.664G= (p.Ala222=) c.492-12653G= (n.492-12653G=) c.652+6024G= (n.652+6024G=) c.491+23962G= (n.491+23962G=) c.593G= (n.593G=) c.647+6024G= (n.647+6024G=) c.659G= (n.659G=) c.55G= (p.Ala19=) c.-104+24925C= (n.-104+24925C=) c.-99G= (n.-99G=) c.754G= (p.Ala252=) n.847G= | |
1 | g.67206921G>T | CA340728084 | C1orf141,IL23R | c.540G>T (n.540G>T) c.503G>T (p.Cys168Phe) c.664G>T (p.Ala222Ser) c.492-12653G>T (n.492-12653G>T) c.652+6024G>T (n.652+6024G>T) c.491+23962G>T (n.491+23962G>T) c.593G>T (n.593G>T) c.647+6024G>T (n.647+6024G>T) c.659G>T (n.659G>T) c.55G>T (p.Ala19Ser) c.-104+24925C>A (n.-104+24925C>A) c.-99G>T (n.-99G>T) c.754G>T (p.Ala252Ser) n.847G>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206922C>A | CA340728086 | C1orf141,IL23R | c.541C>A (n.541C>A) c.504C>A (p.Cys168Ter) c.665C>A (p.Ala222Glu) c.492-12652C>A (n.492-12652C>A) c.652+6025C>A (n.652+6025C>A) c.491+23963C>A (n.491+23963C>A) c.594C>A (n.594C>A) c.647+6025C>A (n.647+6025C>A) c.660C>A (n.660C>A) c.56C>A (p.Ala19Glu) c.-104+24924G>T (n.-104+24924G>T) c.-98C>A (n.-98C>A) c.755C>A (p.Ala252Glu) n.848C>A | |
1 | g.67206922C= | CA1173042429 | C1orf141,IL23R | c.541C= (n.541C=) c.504C= (p.Cys168=) c.665C= (p.Ala222=) c.492-12652C= (n.492-12652C=) c.652+6025C= (n.652+6025C=) c.491+23963C= (n.491+23963C=) c.594C= (n.594C=) c.647+6025C= (n.647+6025C=) c.660C= (n.660C=) c.56C= (p.Ala19=) c.-104+24924G= (n.-104+24924G=) c.-98C= (n.-98C=) c.755C= (p.Ala252=) n.848C= | |
1 | g.67206922C>G | CA340728087 | C1orf141,IL23R | c.541C>G (n.541C>G) c.504C>G (p.Cys168Trp) c.665C>G (p.Ala222Gly) c.492-12652C>G (n.492-12652C>G) c.652+6025C>G (n.652+6025C>G) c.491+23963C>G (n.491+23963C>G) c.594C>G (n.594C>G) c.647+6025C>G (n.647+6025C>G) c.660C>G (n.660C>G) c.56C>G (p.Ala19Gly) c.-104+24924G>C (n.-104+24924G>C) c.-98C>G (n.-98C>G) c.755C>G (p.Ala252Gly) n.848C>G | |
1 | g.67206922C>T | CA340728089 | C1orf141,IL23R | c.541C>T (n.541C>T) c.504C>T (p.Cys168=) c.665C>T (p.Ala222Val) c.492-12652C>T (n.492-12652C>T) c.652+6025C>T (n.652+6025C>T) c.491+23963C>T (n.491+23963C>T) c.594C>T (n.594C>T) c.647+6025C>T (n.647+6025C>T) c.660C>T (n.660C>T) c.56C>T (p.Ala19Val) c.-104+24924G>A (n.-104+24924G>A) c.-98C>T (n.-98C>T) c.755C>T (p.Ala252Val) n.848C>T | dbSNP gnomAD v4 |
1 | g.67206923A>C | CA418269527 | C1orf141,IL23R | c.542A>C (n.542A>C) c.505A>C (p.Ser169Arg) c.666A>C (p.Ala222=) c.492-12651A>C (n.492-12651A>C) c.652+6026A>C (n.652+6026A>C) c.491+23964A>C (n.491+23964A>C) c.595A>C (n.595A>C) c.647+6026A>C (n.647+6026A>C) c.661A>C (n.661A>C) c.57A>C (p.Ala19=) c.-104+24923T>G (n.-104+24923T>G) c.-97A>C (n.-97A>C) c.756A>C (p.Ala252=) n.849A>C | gnomAD v3 gnomAD v4 |
1 | g.67206923A>G | CA418269528 | C1orf141,IL23R | c.542A>G (n.542A>G) c.505A>G (p.Ser169Gly) c.666A>G (p.Ala222=) c.492-12651A>G (n.492-12651A>G) c.652+6026A>G (n.652+6026A>G) c.491+23964A>G (n.491+23964A>G) c.595A>G (n.595A>G) c.647+6026A>G (n.647+6026A>G) c.661A>G (n.661A>G) c.57A>G (p.Ala19=) c.-104+24923T>C (n.-104+24923T>C) c.-97A>G (n.-97A>G) c.756A>G (p.Ala252=) n.849A>G | |
1 | g.67206923A>T | CA418269529 | C1orf141,IL23R | c.542A>T (n.542A>T) c.505A>T (p.Ser169Cys) c.666A>T (p.Ala222=) c.492-12651A>T (n.492-12651A>T) c.652+6026A>T (n.652+6026A>T) c.491+23964A>T (n.491+23964A>T) c.595A>T (n.595A>T) c.647+6026A>T (n.647+6026A>T) c.661A>T (n.661A>T) c.57A>T (p.Ala19=) c.-104+24923T>A (n.-104+24923T>A) c.-97A>T (n.-97A>T) c.756A>T (p.Ala252=) n.849A>T | |
1 | g.67206924G>A | CA340728094 | C1orf141,IL23R | c.543G>A (n.543G>A) c.506G>A (p.Ser169Asn) c.667G>A (p.Ala223Thr) c.492-12650G>A (n.492-12650G>A) c.652+6027G>A (n.652+6027G>A) c.491+23965G>A (n.491+23965G>A) c.596G>A (n.596G>A) c.647+6027G>A (n.647+6027G>A) c.662G>A (n.662G>A) c.58G>A (p.Ala20Thr) c.-104+24922C>T (n.-104+24922C>T) c.-96G>A (n.-96G>A) c.757G>A (p.Ala253Thr) n.850G>A | gnomAD v3 gnomAD v4 |
1 | g.67206924G>C | CA340728093 | C1orf141,IL23R | c.543G>C (n.543G>C) c.506G>C (p.Ser169Thr) c.667G>C (p.Ala223Pro) c.492-12650G>C (n.492-12650G>C) c.652+6027G>C (n.652+6027G>C) c.491+23965G>C (n.491+23965G>C) c.596G>C (n.596G>C) c.647+6027G>C (n.647+6027G>C) c.662G>C (n.662G>C) c.58G>C (p.Ala20Pro) c.-104+24922C>G (n.-104+24922C>G) c.-96G>C (n.-96G>C) c.757G>C (p.Ala253Pro) n.850G>C | |
1 | g.67206924G>T | CA340728091 | C1orf141,IL23R | c.543G>T (n.543G>T) c.506G>T (p.Ser169Ile) c.667G>T (p.Ala223Ser) c.492-12650G>T (n.492-12650G>T) c.652+6027G>T (n.652+6027G>T) c.491+23965G>T (n.491+23965G>T) c.596G>T (n.596G>T) c.647+6027G>T (n.647+6027G>T) c.662G>T (n.662G>T) c.58G>T (p.Ala20Ser) c.-104+24922C>A (n.-104+24922C>A) c.-96G>T (n.-96G>T) c.757G>T (p.Ala253Ser) n.850G>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206925C>A | CA340728097 | C1orf141,IL23R | c.544C>A (n.544C>A) c.507C>A (p.Ser169Arg) c.668C>A (p.Ala223Asp) c.492-12649C>A (n.492-12649C>A) c.652+6028C>A (n.652+6028C>A) c.491+23966C>A (n.491+23966C>A) c.597C>A (n.597C>A) c.647+6028C>A (n.647+6028C>A) c.663C>A (n.663C>A) c.59C>A (p.Ala20Asp) c.-104+24921G>T (n.-104+24921G>T) c.-95C>A (n.-95C>A) c.758C>A (p.Ala253Asp) n.851C>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206925C= | CA1173042430 | C1orf141,IL23R | c.544C= (n.544C=) c.507C= (p.Ser169=) c.668C= (p.Ala223=) c.492-12649C= (n.492-12649C=) c.652+6028C= (n.652+6028C=) c.491+23966C= (n.491+23966C=) c.597C= (n.597C=) c.647+6028C= (n.647+6028C=) c.663C= (n.663C=) c.59C= (p.Ala20=) c.-104+24921G= (n.-104+24921G=) c.-95C= (n.-95C=) c.758C= (p.Ala253=) n.851C= | |
1 | g.67206925C>G | CA340728098 | C1orf141,IL23R | c.544C>G (n.544C>G) c.507C>G (p.Ser169Arg) c.668C>G (p.Ala223Gly) c.492-12649C>G (n.492-12649C>G) c.652+6028C>G (n.652+6028C>G) c.491+23966C>G (n.491+23966C>G) c.597C>G (n.597C>G) c.647+6028C>G (n.647+6028C>G) c.663C>G (n.663C>G) c.59C>G (p.Ala20Gly) c.-104+24921G>C (n.-104+24921G>C) c.-95C>G (n.-95C>G) c.758C>G (p.Ala253Gly) n.851C>G | gnomAD v3 gnomAD v4 |
1 | g.67206925C>T | CA340728099 | C1orf141,IL23R | c.544C>T (n.544C>T) c.507C>T (p.Ser169=) c.668C>T (p.Ala223Val) c.492-12649C>T (n.492-12649C>T) c.652+6028C>T (n.652+6028C>T) c.491+23966C>T (n.491+23966C>T) c.597C>T (n.597C>T) c.647+6028C>T (n.647+6028C>T) c.663C>T (n.663C>T) c.59C>T (p.Ala20Val) c.-104+24921G>A (n.-104+24921G>A) c.-95C>T (n.-95C>T) c.758C>T (p.Ala253Val) n.851C>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206926C>A | CA418269531 | C1orf141,IL23R | c.545C>A (n.545C>A) c.508C>A (p.Arg170Ser) c.669C>A (p.Ala223=) c.492-12648C>A (n.492-12648C>A) c.652+6029C>A (n.652+6029C>A) c.491+23967C>A (n.491+23967C>A) c.598C>A (n.598C>A) c.647+6029C>A (n.647+6029C>A) c.664C>A (n.664C>A) c.60C>A (p.Ala20=) c.-104+24920G>T (n.-104+24920G>T) c.-94C>A (n.-94C>A) c.759C>A (p.Ala253=) n.852C>A | gnomAD v4 |
1 | g.67206926C= | CA1143153375 | C1orf141,IL23R | c.545C= (n.545C=) c.508C= (p.Arg170=) c.669C= (p.Ala223=) c.492-12648C= (n.492-12648C=) c.652+6029C= (n.652+6029C=) c.491+23967C= (n.491+23967C=) c.598C= (n.598C=) c.647+6029C= (n.647+6029C=) c.664C= (n.664C=) c.60C= (p.Ala20=) c.-104+24920G= (n.-104+24920G=) c.-94C= (n.-94C=) c.759C= (p.Ala253=) n.852C= | |
1 | g.67206926C>G | CA418269532 | C1orf141,IL23R | c.545C>G (n.545C>G) c.508C>G (p.Arg170Gly) c.669C>G (p.Ala223=) c.492-12648C>G (n.492-12648C>G) c.652+6029C>G (n.652+6029C>G) c.491+23967C>G (n.491+23967C>G) c.598C>G (n.598C>G) c.647+6029C>G (n.647+6029C>G) c.664C>G (n.664C>G) c.60C>G (p.Ala20=) c.-104+24920G>C (n.-104+24920G>C) c.-94C>G (n.-94C>G) c.759C>G (p.Ala253=) n.852C>G | |
1 | g.67206926C>T | CA899794 | C1orf141,IL23R | c.545C>T (n.545C>T) c.508C>T (p.Arg170Cys) c.669C>T (p.Ala223=) c.492-12648C>T (n.492-12648C>T) c.652+6029C>T (n.652+6029C>T) c.491+23967C>T (n.491+23967C>T) c.598C>T (n.598C>T) c.647+6029C>T (n.647+6029C>T) c.664C>T (n.664C>T) c.60C>T (p.Ala20=) c.-104+24920G>A (n.-104+24920G>A) c.-94C>T (n.-94C>T) c.759C>T (p.Ala253=) n.852C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206927G>A | CA899795 | C1orf141,IL23R | c.546G>A (n.546G>A) c.509G>A (p.Arg170His) c.670G>A (p.Val224Ile) c.492-12647G>A (n.492-12647G>A) c.652+6030G>A (n.652+6030G>A) c.491+23968G>A (n.491+23968G>A) c.599G>A (n.599G>A) c.647+6030G>A (n.647+6030G>A) c.665G>A (n.665G>A) c.61G>A (p.Val21Ile) c.-104+24919C>T (n.-104+24919C>T) c.-93G>A (n.-93G>A) c.760G>A (p.Val254Ile) n.853G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206927G>C | CA340728101 | C1orf141,IL23R | c.546G>C (n.546G>C) c.509G>C (p.Arg170Pro) c.670G>C (p.Val224Leu) c.492-12647G>C (n.492-12647G>C) c.652+6030G>C (n.652+6030G>C) c.491+23968G>C (n.491+23968G>C) c.599G>C (n.599G>C) c.647+6030G>C (n.647+6030G>C) c.665G>C (n.665G>C) c.61G>C (p.Val21Leu) c.-104+24919C>G (n.-104+24919C>G) c.-93G>C (n.-93G>C) c.760G>C (p.Val254Leu) n.853G>C | gnomAD v3 gnomAD v4 |
1 | g.67206927G= | CA1141783294 | C1orf141,IL23R | c.546G= (n.546G=) c.509G= (p.Arg170=) c.670G= (p.Val224=) c.492-12647G= (n.492-12647G=) c.652+6030G= (n.652+6030G=) c.491+23968G= (n.491+23968G=) c.599G= (n.599G=) c.647+6030G= (n.647+6030G=) c.665G= (n.665G=) c.61G= (p.Val21=) c.-104+24919C= (n.-104+24919C=) c.-93G= (n.-93G=) c.760G= (p.Val254=) n.853G= | |
1 | g.67206927G>T | CA340728103 | C1orf141,IL23R | c.546G>T (n.546G>T) c.509G>T (p.Arg170Leu) c.670G>T (p.Val224Phe) c.492-12647G>T (n.492-12647G>T) c.652+6030G>T (n.652+6030G>T) c.491+23968G>T (n.491+23968G>T) c.599G>T (n.599G>T) c.647+6030G>T (n.647+6030G>T) c.665G>T (n.665G>T) c.61G>T (p.Val21Phe) c.-104+24919C>A (n.-104+24919C>A) c.-93G>T (n.-93G>T) c.760G>T (p.Val254Phe) n.853G>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206928T>A | CA340728104 | C1orf141,IL23R | c.547T>A (n.547T>A) c.510T>A (p.Arg170=) c.671T>A (p.Val224Asp) c.492-12646T>A (n.492-12646T>A) c.652+6031T>A (n.652+6031T>A) c.491+23969T>A (n.491+23969T>A) c.600T>A (n.600T>A) c.647+6031T>A (n.647+6031T>A) c.666T>A (n.666T>A) c.62T>A (p.Val21Asp) c.-104+24918A>T (n.-104+24918A>T) c.-92T>A (n.-92T>A) c.761T>A (p.Val254Asp) n.854T>A | |
1 | g.67206928T>C | CA340728106 | C1orf141,IL23R | c.547T>C (n.547T>C) c.510T>C (p.Arg170=) c.671T>C (p.Val224Ala) c.492-12646T>C (n.492-12646T>C) c.652+6031T>C (n.652+6031T>C) c.491+23969T>C (n.491+23969T>C) c.600T>C (n.600T>C) c.647+6031T>C (n.647+6031T>C) c.666T>C (n.666T>C) c.62T>C (p.Val21Ala) c.-104+24918A>G (n.-104+24918A>G) c.-92T>C (n.-92T>C) c.761T>C (p.Val254Ala) n.854T>C | |
1 | g.67206928T>G | CA340728107 | C1orf141,IL23R | c.547T>G (n.547T>G) c.510T>G (p.Arg170=) c.671T>G (p.Val224Gly) c.492-12646T>G (n.492-12646T>G) c.652+6031T>G (n.652+6031T>G) c.491+23969T>G (n.491+23969T>G) c.600T>G (n.600T>G) c.647+6031T>G (n.647+6031T>G) c.666T>G (n.666T>G) c.62T>G (p.Val21Gly) c.-104+24918A>C (n.-104+24918A>C) c.-92T>G (n.-92T>G) c.761T>G (p.Val254Gly) n.854T>G | |
1 | g.67206929C>A | CA418269533 | C1orf141,IL23R | c.548C>A (n.548C>A) c.511C>A (p.His171Asn) c.672C>A (p.Val224=) c.492-12645C>A (n.492-12645C>A) c.652+6032C>A (n.652+6032C>A) c.491+23970C>A (n.491+23970C>A) c.601C>A (n.601C>A) c.647+6032C>A (n.647+6032C>A) c.667C>A (n.667C>A) c.63C>A (p.Val21=) c.-104+24917G>T (n.-104+24917G>T) c.-91C>A (n.-91C>A) c.762C>A (p.Val254=) n.855C>A | gnomAD v4 |
1 | g.67206929C>G | CA418269534 | C1orf141,IL23R | c.548C>G (n.548C>G) c.511C>G (p.His171Asp) c.672C>G (p.Val224=) c.492-12645C>G (n.492-12645C>G) c.652+6032C>G (n.652+6032C>G) c.491+23970C>G (n.491+23970C>G) c.601C>G (n.601C>G) c.647+6032C>G (n.647+6032C>G) c.667C>G (n.667C>G) c.63C>G (p.Val21=) c.-104+24917G>C (n.-104+24917G>C) c.-91C>G (n.-91C>G) c.762C>G (p.Val254=) n.855C>G | |
1 | g.67206929C>T | CA418269535 | C1orf141,IL23R | c.548C>T (n.548C>T) c.511C>T (p.His171Tyr) c.672C>T (p.Val224=) c.492-12645C>T (n.492-12645C>T) c.652+6032C>T (n.652+6032C>T) c.491+23970C>T (n.491+23970C>T) c.601C>T (n.601C>T) c.647+6032C>T (n.647+6032C>T) c.667C>T (n.667C>T) c.63C>T (p.Val21=) c.-104+24917G>A (n.-104+24917G>A) c.-91C>T (n.-91C>T) c.762C>T (p.Val254=) n.855C>T | gnomAD v3 gnomAD v4 |
1 | g.67206930A>C | CA340728109 | C1orf141,IL23R | c.549A>C (n.549A>C) c.512A>C (p.His171Pro) c.673A>C (p.Ile225Leu) c.492-12644A>C (n.492-12644A>C) c.652+6033A>C (n.652+6033A>C) c.491+23971A>C (n.491+23971A>C) c.602A>C (n.602A>C) c.647+6033A>C (n.647+6033A>C) c.668A>C (n.668A>C) c.64A>C (p.Ile22Leu) c.-104+24916T>G (n.-104+24916T>G) c.-90A>C (n.-90A>C) c.763A>C (p.Ile255Leu) n.856A>C | gnomAD v3 gnomAD v4 |
1 | g.67206930A>G | CA340728110 | C1orf141,IL23R | c.549A>G (n.549A>G) c.512A>G (p.His171Arg) c.673A>G (p.Ile225Val) c.492-12644A>G (n.492-12644A>G) c.652+6033A>G (n.652+6033A>G) c.491+23971A>G (n.491+23971A>G) c.602A>G (n.602A>G) c.647+6033A>G (n.647+6033A>G) c.668A>G (n.668A>G) c.64A>G (p.Ile22Val) c.-104+24916T>C (n.-104+24916T>C) c.-90A>G (n.-90A>G) c.763A>G (p.Ile255Val) n.856A>G | |
1 | g.67206930A>T | CA340728111 | C1orf141,IL23R | c.549A>T (n.549A>T) c.512A>T (p.His171Leu) c.673A>T (p.Ile225Phe) c.492-12644A>T (n.492-12644A>T) c.652+6033A>T (n.652+6033A>T) c.491+23971A>T (n.491+23971A>T) c.602A>T (n.602A>T) c.647+6033A>T (n.647+6033A>T) c.668A>T (n.668A>T) c.64A>T (p.Ile22Phe) c.-104+24916T>A (n.-104+24916T>A) c.-90A>T (n.-90A>T) c.763A>T (p.Ile255Phe) n.856A>T | gnomAD v3 gnomAD v4 |
1 | g.67206931T>A | CA340728115 | C1orf141,IL23R | c.550T>A (n.550T>A) c.513T>A (p.His171Gln) c.674T>A (p.Ile225Asn) c.492-12643T>A (n.492-12643T>A) c.652+6034T>A (n.652+6034T>A) c.491+23972T>A (n.491+23972T>A) c.603T>A (n.603T>A) c.647+6034T>A (n.647+6034T>A) c.669T>A (n.669T>A) c.65T>A (p.Ile22Asn) c.-104+24915A>T (n.-104+24915A>T) c.-89T>A (n.-89T>A) c.764T>A (p.Ile255Asn) n.857T>A | |
1 | g.67206931T>C | CA340728114 | C1orf141,IL23R | c.550T>C (n.550T>C) c.513T>C (p.His171=) c.674T>C (p.Ile225Thr) c.492-12643T>C (n.492-12643T>C) c.652+6034T>C (n.652+6034T>C) c.491+23972T>C (n.491+23972T>C) c.603T>C (n.603T>C) c.647+6034T>C (n.647+6034T>C) c.669T>C (n.669T>C) c.65T>C (p.Ile22Thr) c.-104+24915A>G (n.-104+24915A>G) c.-89T>C (n.-89T>C) c.764T>C (p.Ile255Thr) n.857T>C | |
1 | g.67206931T>G | CA340728113 | C1orf141,IL23R | c.550T>G (n.550T>G) c.513T>G (p.His171Gln) c.674T>G (p.Ile225Ser) c.492-12643T>G (n.492-12643T>G) c.652+6034T>G (n.652+6034T>G) c.491+23972T>G (n.491+23972T>G) c.603T>G (n.603T>G) c.647+6034T>G (n.647+6034T>G) c.669T>G (n.669T>G) c.65T>G (p.Ile22Ser) c.-104+24915A>C (n.-104+24915A>C) c.-89T>G (n.-89T>G) c.764T>G (p.Ile255Ser) n.857T>G | |
1 | g.67206932T>A | CA418269536 | C1orf141,IL23R | c.551T>A (n.551T>A) c.514T>A (p.Phe172Ile) c.675T>A (p.Ile225=) c.492-12642T>A (n.492-12642T>A) c.652+6035T>A (n.652+6035T>A) c.491+23973T>A (n.491+23973T>A) c.604T>A (n.604T>A) c.647+6035T>A (n.647+6035T>A) c.670T>A (n.670T>A) c.66T>A (p.Ile22=) c.-104+24914A>T (n.-104+24914A>T) c.-88T>A (n.-88T>A) c.765T>A (p.Ile255=) n.858T>A | |
1 | g.67206932T>C | CA899796 | C1orf141,IL23R | c.551T>C (n.551T>C) c.514T>C (p.Phe172Leu) c.675T>C (p.Ile225=) c.492-12642T>C (n.492-12642T>C) c.652+6035T>C (n.652+6035T>C) c.491+23973T>C (n.491+23973T>C) c.604T>C (n.604T>C) c.647+6035T>C (n.647+6035T>C) c.670T>C (n.670T>C) c.66T>C (p.Ile22=) c.-104+24914A>G (n.-104+24914A>G) c.-88T>C (n.-88T>C) c.765T>C (p.Ile255=) n.858T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.67206932T>G | CA23532598 | C1orf141,IL23R | c.551T>G (n.551T>G) c.514T>G (p.Phe172Val) c.675T>G (p.Ile225Met) c.492-12642T>G (n.492-12642T>G) c.652+6035T>G (n.652+6035T>G) c.491+23973T>G (n.491+23973T>G) c.604T>G (n.604T>G) c.647+6035T>G (n.647+6035T>G) c.670T>G (n.670T>G) c.66T>G (p.Ile22Met) c.-104+24914A>C (n.-104+24914A>C) c.-88T>G (n.-88T>G) c.765T>G (p.Ile255Met) n.858T>G | dbSNP gnomAD v4 |
1 | g.67206932T= | CA1173042431 | C1orf141,IL23R | c.551T= (n.551T=) c.514T= (p.Phe172=) c.675T= (p.Ile225=) c.492-12642T= (n.492-12642T=) c.652+6035T= (n.652+6035T=) c.491+23973T= (n.491+23973T=) c.604T= (n.604T=) c.647+6035T= (n.647+6035T=) c.670T= (n.670T=) c.66T= (p.Ile22=) c.-104+24914A= (n.-104+24914A=) c.-88T= (n.-88T=) c.765T= (p.Ile255=) n.858T= | |
1 | g.67206933T>A | CA340728118 | C1orf141,IL23R | c.552T>A (n.552T>A) c.515T>A (p.Phe172Tyr) c.676T>A (p.Ser226Thr) c.492-12641T>A (n.492-12641T>A) c.652+6036T>A (n.652+6036T>A) c.491+23974T>A (n.491+23974T>A) c.605T>A (n.605T>A) c.647+6036T>A (n.647+6036T>A) c.671T>A (n.671T>A) c.67T>A (p.Ser23Thr) c.-104+24913A>T (n.-104+24913A>T) c.-87T>A (n.-87T>A) c.766T>A (p.Ser256Thr) n.859T>A | |
1 | g.67206933T>C | CA340728120 | C1orf141,IL23R | c.552T>C (n.552T>C) c.515T>C (p.Phe172Ser) c.676T>C (p.Ser226Pro) c.492-12641T>C (n.492-12641T>C) c.652+6036T>C (n.652+6036T>C) c.491+23974T>C (n.491+23974T>C) c.605T>C (n.605T>C) c.647+6036T>C (n.647+6036T>C) c.671T>C (n.671T>C) c.67T>C (p.Ser23Pro) c.-104+24913A>G (n.-104+24913A>G) c.-87T>C (n.-87T>C) c.766T>C (p.Ser256Pro) n.859T>C | |
1 | g.67206933T>G | CA340728122 | C1orf141,IL23R | c.552T>G (n.552T>G) c.515T>G (p.Phe172Cys) c.676T>G (p.Ser226Ala) c.492-12641T>G (n.492-12641T>G) c.652+6036T>G (n.652+6036T>G) c.491+23974T>G (n.491+23974T>G) c.605T>G (n.605T>G) c.647+6036T>G (n.647+6036T>G) c.671T>G (n.671T>G) c.67T>G (p.Ser23Ala) c.-104+24913A>C (n.-104+24913A>C) c.-87T>G (n.-87T>G) c.766T>G (p.Ser256Ala) n.859T>G | |
1 | g.67206933_67206934delinsTC | CA1173042432 | C1orf141,IL23R | c.552_553delinsTC (n.552_553delinsTC) c.515_516delinsTC (p.Phe172=) c.676_677delinsTC (p.Ser226=) c.492-12641_492-12640delinsTC (n.492-12641_492-12640delinsTC) c.652+6036_652+6037delinsTC (n.652+6036_652+6037delinsTC) c.491+23974_491+23975delinsTC (n.491+23974_491+23975delinsTC) c.605_606delinsTC (n.605_606delinsTC) c.647+6036_647+6037delinsTC (n.647+6036_647+6037delinsTC) c.671_672delinsTC (n.671_672delinsTC) c.67_68delinsTC (p.Ser23=) c.-104+24912_-104+24913delinsGA (n.-104+24912_-104+24913delinsGA) c.-87_-86delinsTC (n.-87_-86delinsTC) c.766_767delinsTC (p.Ser256=) n.859_860delinsTC | |
1 | g.67206934C>A | CA340728124 | C1orf141,IL23R | c.553C>A (n.553C>A) c.516C>A (p.Phe172Leu) c.677C>A (p.Ser226Tyr) c.492-12640C>A (n.492-12640C>A) c.652+6037C>A (n.652+6037C>A) c.491+23975C>A (n.491+23975C>A) c.606C>A (n.606C>A) c.647+6037C>A (n.647+6037C>A) c.672C>A (n.672C>A) c.68C>A (p.Ser23Tyr) c.-104+24912G>T (n.-104+24912G>T) c.-86C>A (n.-86C>A) c.767C>A (p.Ser256Tyr) n.860C>A | gnomAD v3 gnomAD v4 |
1 | g.67206934C>G | CA340728125 | C1orf141,IL23R | c.553C>G (n.553C>G) c.516C>G (p.Phe172Leu) c.677C>G (p.Ser226Cys) c.492-12640C>G (n.492-12640C>G) c.652+6037C>G (n.652+6037C>G) c.491+23975C>G (n.491+23975C>G) c.606C>G (n.606C>G) c.647+6037C>G (n.647+6037C>G) c.672C>G (n.672C>G) c.68C>G (p.Ser23Cys) c.-104+24912G>C (n.-104+24912G>C) c.-86C>G (n.-86C>G) c.767C>G (p.Ser256Cys) n.860C>G | COSMIC |
1 | g.67206934C>T | CA340728126 | C1orf141,IL23R | c.553C>T (n.553C>T) c.516C>T (p.Phe172=) c.677C>T (p.Ser226Phe) c.492-12640C>T (n.492-12640C>T) c.652+6037C>T (n.652+6037C>T) c.491+23975C>T (n.491+23975C>T) c.606C>T (n.606C>T) c.647+6037C>T (n.647+6037C>T) c.672C>T (n.672C>T) c.68C>T (p.Ser23Phe) c.-104+24912G>A (n.-104+24912G>A) c.-86C>T (n.-86C>T) c.767C>T (p.Ser256Phe) n.860C>T | gnomAD v4 |
1 | g.67206935del | CA1002751837 | C1orf141,IL23R | c.554del (n.554del) c.517del (p.Gln173ArgfsTer?) c.678del (p.Arg227GlyfsTer5) c.492-12639del (n.492-12639del) c.652+6038del (n.652+6038del) c.491+23976del (n.491+23976del) c.607del (n.607del) c.647+6038del (n.647+6038del) c.673del (n.673del) c.69del (p.Arg24GlyfsTer5) c.-104+24912del (n.-104+24912del) c.-85del (n.-85del) c.768del (p.Arg257GlyfsTer5) n.861del | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206935C>A | CA418269537 | C1orf141,IL23R | c.554C>A (n.554C>A) c.517C>A (p.Gln173Lys) c.678C>A (p.Ser226=) c.492-12639C>A (n.492-12639C>A) c.652+6038C>A (n.652+6038C>A) c.491+23976C>A (n.491+23976C>A) c.607C>A (n.607C>A) c.647+6038C>A (n.647+6038C>A) c.673C>A (n.673C>A) c.69C>A (p.Ser23=) c.-104+24911G>T (n.-104+24911G>T) c.-85C>A (n.-85C>A) c.768C>A (p.Ser256=) n.861C>A | |
1 | g.67206935C= | CA1173042433 | C1orf141,IL23R | c.554C= (n.554C=) c.517C= (p.Gln173=) c.678C= (p.Ser226=) c.492-12639C= (n.492-12639C=) c.652+6038C= (n.652+6038C=) c.491+23976C= (n.491+23976C=) c.607C= (n.607C=) c.647+6038C= (n.647+6038C=) c.673C= (n.673C=) c.69C= (p.Ser23=) c.-104+24911G= (n.-104+24911G=) c.-85C= (n.-85C=) c.768C= (p.Ser256=) n.861C= | |
1 | g.67206935C>G | CA418269538 | C1orf141,IL23R | c.554C>G (n.554C>G) c.517C>G (p.Gln173Glu) c.678C>G (p.Ser226=) c.492-12639C>G (n.492-12639C>G) c.652+6038C>G (n.652+6038C>G) c.491+23976C>G (n.491+23976C>G) c.607C>G (n.607C>G) c.647+6038C>G (n.647+6038C>G) c.673C>G (n.673C>G) c.69C>G (p.Ser23=) c.-104+24911G>C (n.-104+24911G>C) c.-85C>G (n.-85C>G) c.768C>G (p.Ser256=) n.861C>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206935C>T | CA418269539 | C1orf141,IL23R | c.554C>T (n.554C>T) c.517C>T (p.Gln173Ter) c.678C>T (p.Ser226=) c.492-12639C>T (n.492-12639C>T) c.652+6038C>T (n.652+6038C>T) c.491+23976C>T (n.491+23976C>T) c.607C>T (n.607C>T) c.647+6038C>T (n.647+6038C>T) c.673C>T (n.673C>T) c.69C>T (p.Ser23=) c.-104+24911G>A (n.-104+24911G>A) c.-85C>T (n.-85C>T) c.768C>T (p.Ser256=) n.861C>T | |
1 | g.67206936A= | CA1173042434 | C1orf141,IL23R | c.555A= (n.555A=) c.518A= (p.Gln173=) c.679A= (p.Arg227=) c.492-12638A= (n.492-12638A=) c.652+6039A= (n.652+6039A=) c.491+23977A= (n.491+23977A=) c.608A= (n.608A=) c.647+6039A= (n.647+6039A=) c.674A= (n.674A=) c.70A= (p.Arg24=) c.-104+24910T= (n.-104+24910T=) c.-84A= (n.-84A=) c.769A= (p.Arg257=) n.862A= | |
1 | g.67206936A>C | CA418269540 | C1orf141,IL23R | c.555A>C (n.555A>C) c.518A>C (p.Gln173Pro) c.679A>C (p.Arg227=) c.492-12638A>C (n.492-12638A>C) c.652+6039A>C (n.652+6039A>C) c.491+23977A>C (n.491+23977A>C) c.608A>C (n.608A>C) c.647+6039A>C (n.647+6039A>C) c.674A>C (n.674A>C) c.70A>C (p.Arg24=) c.-104+24910T>G (n.-104+24910T>G) c.-84A>C (n.-84A>C) c.769A>C (p.Arg257=) n.862A>C | gnomAD v3 gnomAD v4 |
1 | g.67206936A>G | CA340728128 | C1orf141,IL23R | c.555A>G (n.555A>G) c.518A>G (p.Gln173Arg) c.679A>G (p.Arg227Gly) c.492-12638A>G (n.492-12638A>G) c.652+6039A>G (n.652+6039A>G) c.491+23977A>G (n.491+23977A>G) c.608A>G (n.608A>G) c.647+6039A>G (n.647+6039A>G) c.674A>G (n.674A>G) c.70A>G (p.Arg24Gly) c.-104+24910T>C (n.-104+24910T>C) c.-84A>G (n.-84A>G) c.769A>G (p.Arg257Gly) n.862A>G | dbSNP gnomAD v2 |
1 | g.67206936A>T | CA340728129 | C1orf141,IL23R | c.555A>T (n.555A>T) c.518A>T (p.Gln173Leu) c.679A>T (p.Arg227Trp) c.492-12638A>T (n.492-12638A>T) c.652+6039A>T (n.652+6039A>T) c.491+23977A>T (n.491+23977A>T) c.608A>T (n.608A>T) c.647+6039A>T (n.647+6039A>T) c.674A>T (n.674A>T) c.70A>T (p.Arg24Trp) c.-104+24910T>A (n.-104+24910T>A) c.-84A>T (n.-84A>T) c.769A>T (p.Arg257Trp) n.862A>T | |
1 | g.67206937G>A | CA340728131 | C1orf141,IL23R | c.556G>A (n.556G>A) c.519G>A (p.Gln173=) c.680G>A (p.Arg227Lys) c.492-12637G>A (n.492-12637G>A) c.652+6040G>A (n.652+6040G>A) c.491+23978G>A (n.491+23978G>A) c.609G>A (n.609G>A) c.647+6040G>A (n.647+6040G>A) c.675G>A (n.675G>A) c.71G>A (p.Arg24Lys) c.-104+24909C>T (n.-104+24909C>T) c.-83G>A (n.-83G>A) c.770G>A (p.Arg257Lys) n.863G>A | |
1 | g.67206937G>C | CA340728133 | C1orf141,IL23R | c.556G>C (n.556G>C) c.519G>C (p.Gln173His) c.680G>C (p.Arg227Thr) c.492-12637G>C (n.492-12637G>C) c.652+6040G>C (n.652+6040G>C) c.491+23978G>C (n.491+23978G>C) c.609G>C (n.609G>C) c.647+6040G>C (n.647+6040G>C) c.675G>C (n.675G>C) c.71G>C (p.Arg24Thr) c.-104+24909C>G (n.-104+24909C>G) c.-83G>C (n.-83G>C) c.770G>C (p.Arg257Thr) n.863G>C | gnomAD v4 |
1 | g.67206937G>T | CA340728134 | C1orf141,IL23R | c.556G>T (n.556G>T) c.519G>T (p.Gln173His) c.680G>T (p.Arg227Met) c.492-12637G>T (n.492-12637G>T) c.652+6040G>T (n.652+6040G>T) c.491+23978G>T (n.491+23978G>T) c.609G>T (n.609G>T) c.647+6040G>T (n.647+6040G>T) c.675G>T (n.675G>T) c.71G>T (p.Arg24Met) c.-104+24909C>A (n.-104+24909C>A) c.-83G>T (n.-83G>T) c.770G>T (p.Arg257Met) n.863G>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206939del | CA2697552465 | C1orf141,IL23R | c.558del (n.558del) c.521del (p.Gly174AlafsTer?) c.682del (p.Ala228LeufsTer4) c.492-12635del (n.492-12635del) c.652+6042del (n.652+6042del) c.491+23980del (n.491+23980del) c.611del (n.611del) c.647+6042del (n.647+6042del) c.677del (n.677del) c.73del (p.Ala25LeufsTer4) c.-104+24909del (n.-104+24909del) c.-81del (n.-81del) c.772del (p.Ala258LeufsTer4) n.865del | ClinVar |
1 | g.67206938G>A | CA899797 | C1orf141,IL23R | c.557G>A (n.557G>A) c.520G>A (p.Gly174Ser) c.681G>A (p.Arg227=) c.492-12636G>A (n.492-12636G>A) c.652+6041G>A (n.652+6041G>A) c.491+23979G>A (n.491+23979G>A) c.610G>A (n.610G>A) c.647+6041G>A (n.647+6041G>A) c.676G>A (n.676G>A) c.72G>A (p.Arg24=) c.-104+24908C>T (n.-104+24908C>T) c.-82G>A (n.-82G>A) c.771G>A (p.Arg257=) n.864G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.67206938G>C | CA340728137 | C1orf141,IL23R | c.557G>C (n.557G>C) c.520G>C (p.Gly174Arg) c.681G>C (p.Arg227Ser) c.492-12636G>C (n.492-12636G>C) c.652+6041G>C (n.652+6041G>C) c.491+23979G>C (n.491+23979G>C) c.610G>C (n.610G>C) c.647+6041G>C (n.647+6041G>C) c.676G>C (n.676G>C) c.72G>C (p.Arg24Ser) c.-104+24908C>G (n.-104+24908C>G) c.-82G>C (n.-82G>C) c.771G>C (p.Arg257Ser) n.864G>C | |
1 | g.67206938G= | CA1173042435 | C1orf141,IL23R | c.557G= (n.557G=) c.520G= (p.Gly174=) c.681G= (p.Arg227=) c.492-12636G= (n.492-12636G=) c.652+6041G= (n.652+6041G=) c.491+23979G= (n.491+23979G=) c.610G= (n.610G=) c.647+6041G= (n.647+6041G=) c.676G= (n.676G=) c.72G= (p.Arg24=) c.-104+24908C= (n.-104+24908C=) c.-82G= (n.-82G=) c.771G= (p.Arg257=) n.864G= | |
1 | g.67206938G>T | CA340728135 | C1orf141,IL23R | c.557G>T (n.557G>T) c.520G>T (p.Gly174Cys) c.681G>T (p.Arg227Ser) c.492-12636G>T (n.492-12636G>T) c.652+6041G>T (n.652+6041G>T) c.491+23979G>T (n.491+23979G>T) c.610G>T (n.610G>T) c.647+6041G>T (n.647+6041G>T) c.676G>T (n.676G>T) c.72G>T (p.Arg24Ser) c.-104+24908C>A (n.-104+24908C>A) c.-82G>T (n.-82G>T) c.771G>T (p.Arg257Ser) n.864G>T | |
1 | g.67206939G>A | CA340728139 | C1orf141,IL23R | c.558G>A (n.558G>A) c.521G>A (p.Gly174Asp) c.682G>A (p.Ala228Thr) c.492-12635G>A (n.492-12635G>A) c.652+6042G>A (n.652+6042G>A) c.491+23980G>A (n.491+23980G>A) c.611G>A (n.611G>A) c.647+6042G>A (n.647+6042G>A) c.677G>A (n.677G>A) c.73G>A (p.Ala25Thr) c.-104+24907C>T (n.-104+24907C>T) c.-81G>A (n.-81G>A) c.772G>A (p.Ala258Thr) n.865G>A | |
1 | g.67206939G>C | CA340728141 | C1orf141,IL23R | c.558G>C (n.558G>C) c.521G>C (p.Gly174Ala) c.682G>C (p.Ala228Pro) c.492-12635G>C (n.492-12635G>C) c.652+6042G>C (n.652+6042G>C) c.491+23980G>C (n.491+23980G>C) c.611G>C (n.611G>C) c.647+6042G>C (n.647+6042G>C) c.677G>C (n.677G>C) c.73G>C (p.Ala25Pro) c.-104+24907C>G (n.-104+24907C>G) c.-81G>C (n.-81G>C) c.772G>C (p.Ala258Pro) n.865G>C | |
1 | g.67206939G>T | CA340728142 | C1orf141,IL23R | c.558G>T (n.558G>T) c.521G>T (p.Gly174Val) c.682G>T (p.Ala228Ser) c.492-12635G>T (n.492-12635G>T) c.652+6042G>T (n.652+6042G>T) c.491+23980G>T (n.491+23980G>T) c.611G>T (n.611G>T) c.647+6042G>T (n.647+6042G>T) c.677G>T (n.677G>T) c.73G>T (p.Ala25Ser) c.-104+24907C>A (n.-104+24907C>A) c.-81G>T (n.-81G>T) c.772G>T (p.Ala258Ser) n.865G>T | |
1 | g.67206940C>A | CA340728144 | C1orf141,IL23R | c.559C>A (n.559C>A) c.522C>A (p.Gly174=) c.683C>A (p.Ala228Asp) c.492-12634C>A (n.492-12634C>A) c.652+6043C>A (n.652+6043C>A) c.491+23981C>A (n.491+23981C>A) c.612C>A (n.612C>A) c.647+6043C>A (n.647+6043C>A) c.678C>A (n.678C>A) c.74C>A (p.Ala25Asp) c.-104+24906G>T (n.-104+24906G>T) c.-80C>A (n.-80C>A) c.773C>A (p.Ala258Asp) n.866C>A | |
1 | g.67206940C>G | CA340728145 | C1orf141,IL23R | c.559C>G (n.559C>G) c.522C>G (p.Gly174=) c.683C>G (p.Ala228Gly) c.492-12634C>G (n.492-12634C>G) c.652+6043C>G (n.652+6043C>G) c.491+23981C>G (n.491+23981C>G) c.612C>G (n.612C>G) c.647+6043C>G (n.647+6043C>G) c.678C>G (n.678C>G) c.74C>G (p.Ala25Gly) c.-104+24906G>C (n.-104+24906G>C) c.-80C>G (n.-80C>G) c.773C>G (p.Ala258Gly) n.866C>G | |
1 | g.67206940C>T | CA340728146 | C1orf141,IL23R | c.559C>T (n.559C>T) c.522C>T (p.Gly174=) c.683C>T (p.Ala228Val) c.492-12634C>T (n.492-12634C>T) c.652+6043C>T (n.652+6043C>T) c.491+23981C>T (n.491+23981C>T) c.612C>T (n.612C>T) c.647+6043C>T (n.647+6043C>T) c.678C>T (n.678C>T) c.74C>T (p.Ala25Val) c.-104+24906G>A (n.-104+24906G>A) c.-80C>T (n.-80C>T) c.773C>T (p.Ala258Val) n.866C>T | |
1 | g.67206940_67206941insCTAGCCTTGT | CA2545498102 | C1orf141,IL23R | c.559_560insCTAGCCTTGT (n.559_560insCTAGCCTTGT) c.522_523insCTAGCCTTGT (p.Ter175LeuextTer7) c.683_684insCTAGCCTTGT (p.Glu229Ter) c.492-12634_492-12633insCTAGCCTTGT (n.492-12634_492-12633insCTAGCCTTGT) c.652+6043_652+6044insCTAGCCTTGT (n.652+6043_652+6044insCTAGCCTTGT) c.491+23981_491+23982insCTAGCCTTGT (n.491+23981_491+23982insCTAGCCTTGT) c.612_613insCTAGCCTTGT (n.612_613insCTAGCCTTGT) c.647+6043_647+6044insCTAGCCTTGT (n.647+6043_647+6044insCTAGCCTTGT) c.678_679insCTAGCCTTGT (n.678_679insCTAGCCTTGT) c.74_75insCTAGCCTTGT (p.Glu26Ter) c.-104+24905_-104+24906insACAAGGCTAG (n.-104+24905_-104+24906insACAAGGCTAG) c.-80_-79insCTAGCCTTGT (n.-80_-79insCTAGCCTTGT) c.773_774insCTAGCCTTGT (p.Glu259Ter) n.866_867insCTAGCCTTGT | |
1 | g.67206941T>A | CA418269541 | C1orf141,IL23R | c.560T>A (n.560T>A) c.523T>A (p.Ter175Arg) c.684T>A (p.Ala228=) c.492-12633T>A (n.492-12633T>A) c.652+6044T>A (n.652+6044T>A) c.491+23982T>A (n.491+23982T>A) c.613T>A (n.613T>A) c.647+6044T>A (n.647+6044T>A) c.679T>A (n.679T>A) c.75T>A (p.Ala25=) c.-104+24905A>T (n.-104+24905A>T) c.-79T>A (n.-79T>A) c.774T>A (p.Ala258=) n.867T>A | |
1 | g.67206941T>C | CA418269542 | C1orf141,IL23R | c.560T>C (n.560T>C) c.523T>C (p.Ter175Arg) c.684T>C (p.Ala228=) c.492-12633T>C (n.492-12633T>C) c.652+6044T>C (n.652+6044T>C) c.491+23982T>C (n.491+23982T>C) c.613T>C (n.613T>C) c.647+6044T>C (n.647+6044T>C) c.679T>C (n.679T>C) c.75T>C (p.Ala25=) c.-104+24905A>G (n.-104+24905A>G) c.-79T>C (n.-79T>C) c.774T>C (p.Ala258=) n.867T>C | |
1 | g.67206941T>G | CA418269543 | C1orf141,IL23R | c.560T>G (n.560T>G) c.523T>G (p.Ter175Gly) c.684T>G (p.Ala228=) c.492-12633T>G (n.492-12633T>G) c.652+6044T>G (n.652+6044T>G) c.491+23982T>G (n.491+23982T>G) c.613T>G (n.613T>G) c.647+6044T>G (n.647+6044T>G) c.679T>G (n.679T>G) c.75T>G (p.Ala25=) c.-104+24905A>C (n.-104+24905A>C) c.-79T>G (n.-79T>G) c.774T>G (p.Ala258=) n.867T>G | |
1 | g.67206942G>A | CA340728148 | C1orf141,IL23R | c.561G>A (n.561G>A) c.524G>A (p.Ter175=) c.685G>A (p.Glu229Lys) c.492-12632G>A (n.492-12632G>A) c.652+6045G>A (n.652+6045G>A) c.491+23983G>A (n.491+23983G>A) c.614G>A (n.614G>A) c.647+6045G>A (n.647+6045G>A) c.680G>A (n.680G>A) c.76G>A (p.Glu26Lys) c.-104+24904C>T (n.-104+24904C>T) c.-78G>A (n.-78G>A) c.775G>A (p.Glu259Lys) n.868G>A | gnomAD v4 COSMIC |
1 | g.67206942G>C | CA340728151 | C1orf141,IL23R | c.561G>C (n.561G>C) c.524G>C (p.Ter175Ser) c.685G>C (p.Glu229Gln) c.492-12632G>C (n.492-12632G>C) c.652+6045G>C (n.652+6045G>C) c.491+23983G>C (n.491+23983G>C) c.614G>C (n.614G>C) c.647+6045G>C (n.647+6045G>C) c.680G>C (n.680G>C) c.76G>C (p.Glu26Gln) c.-104+24904C>G (n.-104+24904C>G) c.-78G>C (n.-78G>C) c.775G>C (p.Glu259Gln) n.868G>C | |
1 | g.67206942G>T | CA340728150 | C1orf141,IL23R | c.561G>T (n.561G>T) c.524G>T (p.Ter175Leu) c.685G>T (p.Glu229Ter) c.492-12632G>T (n.492-12632G>T) c.652+6045G>T (n.652+6045G>T) c.491+23983G>T (n.491+23983G>T) c.614G>T (n.614G>T) c.647+6045G>T (n.647+6045G>T) c.680G>T (n.680G>T) c.76G>T (p.Glu26Ter) c.-104+24904C>A (n.-104+24904C>A) c.-78G>T (n.-78G>T) c.775G>T (p.Glu259Ter) n.868G>T | gnomAD v3 gnomAD v4 |
1 | g.67206943A= | CA1173042436 | C1orf141,IL23R | c.562A= (n.562A=) c.525A= (p.Ter175=) c.686A= (p.Glu229=) c.492-12631A= (n.492-12631A=) c.652+6046A= (n.652+6046A=) c.491+23984A= (n.491+23984A=) c.615A= (n.615A=) c.647+6046A= (n.647+6046A=) c.681A= (n.681A=) c.77A= (p.Glu26=) c.-104+24903T= (n.-104+24903T=) c.-77A= (n.-77A=) c.776A= (p.Glu259=) n.869A= | |
1 | g.67206943A>C | CA340728153 | C1orf141,IL23R | c.562A>C (n.562A>C) c.525A>C (p.Ter175Cys) c.686A>C (p.Glu229Ala) c.492-12631A>C (n.492-12631A>C) c.652+6046A>C (n.652+6046A>C) c.491+23984A>C (n.491+23984A>C) c.615A>C (n.615A>C) c.647+6046A>C (n.647+6046A>C) c.681A>C (n.681A>C) c.77A>C (p.Glu26Ala) c.-104+24903T>G (n.-104+24903T>G) c.-77A>C (n.-77A>C) c.776A>C (p.Glu259Ala) n.869A>C | |
1 | g.67206943A>G | CA340728155 | C1orf141,IL23R | c.562A>G (n.562A>G) c.525A>G (p.Ter175Trp) c.686A>G (p.Glu229Gly) c.492-12631A>G (n.492-12631A>G) c.652+6046A>G (n.652+6046A>G) c.491+23984A>G (n.491+23984A>G) c.615A>G (n.615A>G) c.647+6046A>G (n.647+6046A>G) c.681A>G (n.681A>G) c.77A>G (p.Glu26Gly) c.-104+24903T>C (n.-104+24903T>C) c.-77A>G (n.-77A>G) c.776A>G (p.Glu259Gly) n.869A>G | dbSNP |
1 | g.67206943A>T | CA340728156 | C1orf141,IL23R | c.562A>T (n.562A>T) c.525A>T (p.Ter175Cys) c.686A>T (p.Glu229Val) c.492-12631A>T (n.492-12631A>T) c.652+6046A>T (n.652+6046A>T) c.491+23984A>T (n.491+23984A>T) c.615A>T (n.615A>T) c.647+6046A>T (n.647+6046A>T) c.681A>T (n.681A>T) c.77A>T (p.Glu26Val) c.-104+24903T>A (n.-104+24903T>A) c.-77A>T (n.-77A>T) c.776A>T (p.Glu259Val) n.869A>T | gnomAD v3 gnomAD v4 |
1 | g.67206944G>A | CA418269544 | C1orf141,IL23R | c.563G>A (n.563G>A) c.526G>A (n.526G>A) c.687G>A (p.Glu229=) c.492-12630G>A (n.492-12630G>A) c.652+6047G>A (n.652+6047G>A) c.491+23985G>A (n.491+23985G>A) c.616G>A (n.616G>A) c.647+6047G>A (n.647+6047G>A) c.682G>A (n.682G>A) c.78G>A (p.Glu26=) c.-104+24902C>T (n.-104+24902C>T) c.-76G>A (n.-76G>A) c.777G>A (p.Glu259=) n.870G>A | |
1 | g.67206944G>C | CA340728157 | C1orf141,IL23R | c.563G>C (n.563G>C) c.526G>C (n.526G>C) c.687G>C (p.Glu229Asp) c.492-12630G>C (n.492-12630G>C) c.652+6047G>C (n.652+6047G>C) c.491+23985G>C (n.491+23985G>C) c.616G>C (n.616G>C) c.647+6047G>C (n.647+6047G>C) c.682G>C (n.682G>C) c.78G>C (p.Glu26Asp) c.-104+24902C>G (n.-104+24902C>G) c.-76G>C (n.-76G>C) c.777G>C (p.Glu259Asp) n.870G>C | |
1 | g.67206944G>T | CA340728158 | C1orf141,IL23R | c.563G>T (n.563G>T) c.526G>T (n.526G>T) c.687G>T (p.Glu229Asp) c.492-12630G>T (n.492-12630G>T) c.652+6047G>T (n.652+6047G>T) c.491+23985G>T (n.491+23985G>T) c.616G>T (n.616G>T) c.647+6047G>T (n.647+6047G>T) c.682G>T (n.682G>T) c.78G>T (p.Glu26Asp) c.-104+24902C>A (n.-104+24902C>A) c.-76G>T (n.-76G>T) c.777G>T (p.Glu259Asp) n.870G>T | |
1 | g.67206945A>C | CA340728163 | C1orf141,IL23R | c.564A>C (n.564A>C) c.527A>C (n.527A>C) c.688A>C (p.Thr230Pro) c.492-12629A>C (n.492-12629A>C) c.652+6048A>C (n.652+6048A>C) c.491+23986A>C (n.491+23986A>C) c.617A>C (n.617A>C) c.647+6048A>C (n.647+6048A>C) c.683A>C (n.683A>C) c.79A>C (p.Thr27Pro) c.-104+24901T>G (n.-104+24901T>G) c.-75A>C (n.-75A>C) c.778A>C (p.Thr260Pro) n.871A>C | |
1 | g.67206945A>G | CA340728164 | C1orf141,IL23R | c.564A>G (n.564A>G) c.527A>G (n.527A>G) c.688A>G (p.Thr230Ala) c.492-12629A>G (n.492-12629A>G) c.652+6048A>G (n.652+6048A>G) c.491+23986A>G (n.491+23986A>G) c.617A>G (n.617A>G) c.647+6048A>G (n.647+6048A>G) c.683A>G (n.683A>G) c.79A>G (p.Thr27Ala) c.-104+24901T>C (n.-104+24901T>C) c.-75A>G (n.-75A>G) c.778A>G (p.Thr260Ala) n.871A>G | |
1 | g.67206945A>T | CA340728161 | C1orf141,IL23R | c.564A>T (n.564A>T) c.527A>T (n.527A>T) c.688A>T (p.Thr230Ser) c.492-12629A>T (n.492-12629A>T) c.652+6048A>T (n.652+6048A>T) c.491+23986A>T (n.491+23986A>T) c.617A>T (n.617A>T) c.647+6048A>T (n.647+6048A>T) c.683A>T (n.683A>T) c.79A>T (p.Thr27Ser) c.-104+24901T>A (n.-104+24901T>A) c.-75A>T (n.-75A>T) c.778A>T (p.Thr260Ser) n.871A>T | |
1 | g.67206946C>A | CA340728166 | C1orf141,IL23R | c.565C>A (n.565C>A) c.528C>A (n.528C>A) c.689C>A (p.Thr230Asn) c.492-12628C>A (n.492-12628C>A) c.652+6049C>A (n.652+6049C>A) c.491+23987C>A (n.491+23987C>A) c.618C>A (n.618C>A) c.647+6049C>A (n.647+6049C>A) c.684C>A (n.684C>A) c.80C>A (p.Thr27Asn) c.-104+24900G>T (n.-104+24900G>T) c.-74C>A (n.-74C>A) c.779C>A (p.Thr260Asn) n.872C>A | dbSNP gnomAD v2 |
1 | g.67206946C= | CA1173042437 | C1orf141,IL23R | c.565C= (n.565C=) c.528C= (n.528C=) c.689C= (p.Thr230=) c.492-12628C= (n.492-12628C=) c.652+6049C= (n.652+6049C=) c.491+23987C= (n.491+23987C=) c.618C= (n.618C=) c.647+6049C= (n.647+6049C=) c.684C= (n.684C=) c.80C= (p.Thr27=) c.-104+24900G= (n.-104+24900G=) c.-74C= (n.-74C=) c.779C= (p.Thr260=) n.872C= | |
1 | g.67206946C>G | CA340728169 | C1orf141,IL23R | c.565C>G (n.565C>G) c.528C>G (n.528C>G) c.689C>G (p.Thr230Ser) c.492-12628C>G (n.492-12628C>G) c.652+6049C>G (n.652+6049C>G) c.491+23987C>G (n.491+23987C>G) c.618C>G (n.618C>G) c.647+6049C>G (n.647+6049C>G) c.684C>G (n.684C>G) c.80C>G (p.Thr27Ser) c.-104+24900G>C (n.-104+24900G>C) c.-74C>G (n.-74C>G) c.779C>G (p.Thr260Ser) n.872C>G | ClinVar |
1 | g.67206946C>T | CA340728168 | C1orf141,IL23R | c.565C>T (n.565C>T) c.528C>T (n.528C>T) c.689C>T (p.Thr230Ile) c.492-12628C>T (n.492-12628C>T) c.652+6049C>T (n.652+6049C>T) c.491+23987C>T (n.491+23987C>T) c.618C>T (n.618C>T) c.647+6049C>T (n.647+6049C>T) c.684C>T (n.684C>T) c.80C>T (p.Thr27Ile) c.-104+24900G>A (n.-104+24900G>A) c.-74C>T (n.-74C>T) c.779C>T (p.Thr260Ile) n.872C>T | |
1 | g.67206947T>A | CA418269545 | C1orf141,IL23R | c.566T>A (n.566T>A) c.529T>A (n.529T>A) c.690T>A (p.Thr230=) c.492-12627T>A (n.492-12627T>A) c.652+6050T>A (n.652+6050T>A) c.491+23988T>A (n.491+23988T>A) c.619T>A (n.619T>A) c.647+6050T>A (n.647+6050T>A) c.685T>A (n.685T>A) c.81T>A (p.Thr27=) c.-104+24899A>T (n.-104+24899A>T) c.-73T>A (n.-73T>A) c.780T>A (p.Thr260=) n.873T>A | |
1 | g.67206947T>C | CA418269546 | C1orf141,IL23R | c.566T>C (n.566T>C) c.529T>C (n.529T>C) c.690T>C (p.Thr230=) c.492-12627T>C (n.492-12627T>C) c.652+6050T>C (n.652+6050T>C) c.491+23988T>C (n.491+23988T>C) c.619T>C (n.619T>C) c.647+6050T>C (n.647+6050T>C) c.685T>C (n.685T>C) c.81T>C (p.Thr27=) c.-104+24899A>G (n.-104+24899A>G) c.-73T>C (n.-73T>C) c.780T>C (p.Thr260=) n.873T>C | |
1 | g.67206947T>G | CA418269547 | C1orf141,IL23R | c.566T>G (n.566T>G) c.529T>G (n.529T>G) c.690T>G (p.Thr230=) c.492-12627T>G (n.492-12627T>G) c.652+6050T>G (n.652+6050T>G) c.491+23988T>G (n.491+23988T>G) c.619T>G (n.619T>G) c.647+6050T>G (n.647+6050T>G) c.685T>G (n.685T>G) c.81T>G (p.Thr27=) c.-104+24899A>C (n.-104+24899A>C) c.-73T>G (n.-73T>G) c.780T>G (p.Thr260=) n.873T>G | |
1 | g.67206948A= | CA1173042438 | C1orf141,IL23R | c.567A= (n.567A=) c.530A= (n.530A=) c.691A= (p.Ile231=) c.492-12626A= (n.492-12626A=) c.652+6051A= (n.652+6051A=) c.491+23989A= (n.491+23989A=) c.620A= (n.620A=) c.647+6051A= (n.647+6051A=) c.686A= (n.686A=) c.82A= (p.Ile28=) c.-104+24898T= (n.-104+24898T=) c.-72A= (n.-72A=) c.781A= (p.Ile261=) n.874A= | |
1 | g.67206948A>C | CA340728170 | C1orf141,IL23R | c.567A>C (n.567A>C) c.530A>C (n.530A>C) c.691A>C (p.Ile231Leu) c.492-12626A>C (n.492-12626A>C) c.652+6051A>C (n.652+6051A>C) c.491+23989A>C (n.491+23989A>C) c.620A>C (n.620A>C) c.647+6051A>C (n.647+6051A>C) c.686A>C (n.686A>C) c.82A>C (p.Ile28Leu) c.-104+24898T>G (n.-104+24898T>G) c.-72A>C (n.-72A>C) c.781A>C (p.Ile261Leu) n.874A>C | |
1 | g.67206948A>G | CA899798 | C1orf141,IL23R | c.567A>G (n.567A>G) c.530A>G (n.530A>G) c.691A>G (p.Ile231Val) c.492-12626A>G (n.492-12626A>G) c.652+6051A>G (n.652+6051A>G) c.491+23989A>G (n.491+23989A>G) c.620A>G (n.620A>G) c.647+6051A>G (n.647+6051A>G) c.686A>G (n.686A>G) c.82A>G (p.Ile28Val) c.-104+24898T>C (n.-104+24898T>C) c.-72A>G (n.-72A>G) c.781A>G (p.Ile261Val) n.874A>G | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.67206948A>T | CA340728171 | C1orf141,IL23R | c.567A>T (n.567A>T) c.530A>T (n.530A>T) c.691A>T (p.Ile231Leu) c.492-12626A>T (n.492-12626A>T) c.652+6051A>T (n.652+6051A>T) c.491+23989A>T (n.491+23989A>T) c.620A>T (n.620A>T) c.647+6051A>T (n.647+6051A>T) c.686A>T (n.686A>T) c.82A>T (p.Ile28Leu) c.-104+24898T>A (n.-104+24898T>A) c.-72A>T (n.-72A>T) c.781A>T (p.Ile261Leu) n.874A>T | |
1 | g.67206949T>A | CA340728173 | C1orf141,IL23R | c.568T>A (n.568T>A) c.531T>A (n.531T>A) c.692T>A (p.Ile231Lys) c.492-12625T>A (n.492-12625T>A) c.652+6052T>A (n.652+6052T>A) c.491+23990T>A (n.491+23990T>A) c.621T>A (n.621T>A) c.647+6052T>A (n.647+6052T>A) c.687T>A (n.687T>A) c.83T>A (p.Ile28Lys) c.-104+24897A>T (n.-104+24897A>T) c.-71T>A (n.-71T>A) c.782T>A (p.Ile261Lys) n.875T>A | |
1 | g.67206949T>C | CA340728174 | C1orf141,IL23R | c.568T>C (n.568T>C) c.531T>C (n.531T>C) c.692T>C (p.Ile231Thr) c.492-12625T>C (n.492-12625T>C) c.652+6052T>C (n.652+6052T>C) c.491+23990T>C (n.491+23990T>C) c.621T>C (n.621T>C) c.647+6052T>C (n.647+6052T>C) c.687T>C (n.687T>C) c.83T>C (p.Ile28Thr) c.-104+24897A>G (n.-104+24897A>G) c.-71T>C (n.-71T>C) c.782T>C (p.Ile261Thr) n.875T>C | |
1 | g.67206949T>G | CA340728176 | C1orf141,IL23R | c.568T>G (n.568T>G) c.531T>G (n.531T>G) c.692T>G (p.Ile231Arg) c.492-12625T>G (n.492-12625T>G) c.652+6052T>G (n.652+6052T>G) c.491+23990T>G (n.491+23990T>G) c.621T>G (n.621T>G) c.647+6052T>G (n.647+6052T>G) c.687T>G (n.687T>G) c.83T>G (p.Ile28Arg) c.-104+24897A>C (n.-104+24897A>C) c.-71T>G (n.-71T>G) c.782T>G (p.Ile261Arg) n.875T>G | |
1 | g.67206950A>C | CA418269548 | C1orf141,IL23R | c.569A>C (n.569A>C) c.532A>C (n.532A>C) c.693A>C (p.Ile231=) c.492-12624A>C (n.492-12624A>C) c.652+6053A>C (n.652+6053A>C) c.491+23991A>C (n.491+23991A>C) c.622A>C (n.622A>C) c.647+6053A>C (n.647+6053A>C) c.688A>C (n.688A>C) c.84A>C (p.Ile28=) c.-104+24896T>G (n.-104+24896T>G) c.-70A>C (n.-70A>C) c.783A>C (p.Ile261=) n.876A>C | |
1 | g.67206950A>G | CA340728178 | C1orf141,IL23R | c.569A>G (n.569A>G) c.532A>G (n.532A>G) c.693A>G (p.Ile231Met) c.492-12624A>G (n.492-12624A>G) c.652+6053A>G (n.652+6053A>G) c.491+23991A>G (n.491+23991A>G) c.622A>G (n.622A>G) c.647+6053A>G (n.647+6053A>G) c.688A>G (n.688A>G) c.84A>G (p.Ile28Met) c.-104+24896T>C (n.-104+24896T>C) c.-70A>G (n.-70A>G) c.783A>G (p.Ile261Met) n.876A>G | |
1 | g.67206950A>T | CA418269549 | C1orf141,IL23R | c.569A>T (n.569A>T) c.532A>T (n.532A>T) c.693A>T (p.Ile231=) c.492-12624A>T (n.492-12624A>T) c.652+6053A>T (n.652+6053A>T) c.491+23991A>T (n.491+23991A>T) c.622A>T (n.622A>T) c.647+6053A>T (n.647+6053A>T) c.688A>T (n.688A>T) c.84A>T (p.Ile28=) c.-104+24896T>A (n.-104+24896T>A) c.-70A>T (n.-70A>T) c.783A>T (p.Ile261=) n.876A>T | |
1 | g.67206951A>C | CA340728179 | C1orf141,IL23R | c.570A>C (n.570A>C) c.533A>C (n.533A>C) c.694A>C (p.Asn232His) c.492-12623A>C (n.492-12623A>C) c.652+6054A>C (n.652+6054A>C) c.491+23992A>C (n.491+23992A>C) c.623A>C (n.623A>C) c.647+6054A>C (n.647+6054A>C) c.689A>C (n.689A>C) c.85A>C (p.Asn29His) c.-104+24895T>G (n.-104+24895T>G) c.-69A>C (n.-69A>C) c.784A>C (p.Asn262His) n.877A>C | |
1 | g.67206951A>G | CA340728181 | C1orf141,IL23R | c.570A>G (n.570A>G) c.533A>G (n.533A>G) c.694A>G (p.Asn232Asp) c.492-12623A>G (n.492-12623A>G) c.652+6054A>G (n.652+6054A>G) c.491+23992A>G (n.491+23992A>G) c.623A>G (n.623A>G) c.647+6054A>G (n.647+6054A>G) c.689A>G (n.689A>G) c.85A>G (p.Asn29Asp) c.-104+24895T>C (n.-104+24895T>C) c.-69A>G (n.-69A>G) c.784A>G (p.Asn262Asp) n.877A>G | |
1 | g.67206951A>T | CA340728182 | C1orf141,IL23R | c.570A>T (n.570A>T) c.533A>T (n.533A>T) c.694A>T (p.Asn232Tyr) c.492-12623A>T (n.492-12623A>T) c.652+6054A>T (n.652+6054A>T) c.491+23992A>T (n.491+23992A>T) c.623A>T (n.623A>T) c.647+6054A>T (n.647+6054A>T) c.689A>T (n.689A>T) c.85A>T (p.Asn29Tyr) c.-104+24895T>A (n.-104+24895T>A) c.-69A>T (n.-69A>T) c.784A>T (p.Asn262Tyr) n.877A>T | |
1 | g.67206952A>C | CA340728187 | C1orf141,IL23R | c.571A>C (n.571A>C) c.534A>C (n.534A>C) c.695A>C (p.Asn232Thr) c.492-12622A>C (n.492-12622A>C) c.652+6055A>C (n.652+6055A>C) c.491+23993A>C (n.491+23993A>C) c.624A>C (n.624A>C) c.647+6055A>C (n.647+6055A>C) c.690A>C (n.690A>C) c.86A>C (p.Asn29Thr) c.-104+24894T>G (n.-104+24894T>G) c.-68A>C (n.-68A>C) c.785A>C (p.Asn262Thr) n.878A>C | |
1 | g.67206952A>G | CA340728185 | C1orf141,IL23R | c.571A>G (n.571A>G) c.534A>G (n.534A>G) c.695A>G (p.Asn232Ser) c.492-12622A>G (n.492-12622A>G) c.652+6055A>G (n.652+6055A>G) c.491+23993A>G (n.491+23993A>G) c.624A>G (n.624A>G) c.647+6055A>G (n.647+6055A>G) c.690A>G (n.690A>G) c.86A>G (p.Asn29Ser) c.-104+24894T>C (n.-104+24894T>C) c.-68A>G (n.-68A>G) c.785A>G (p.Asn262Ser) n.878A>G | |
1 | g.67206952A>T | CA340728184 | C1orf141,IL23R | c.571A>T (n.571A>T) c.534A>T (n.534A>T) c.695A>T (p.Asn232Ile) c.492-12622A>T (n.492-12622A>T) c.652+6055A>T (n.652+6055A>T) c.491+23993A>T (n.491+23993A>T) c.624A>T (n.624A>T) c.647+6055A>T (n.647+6055A>T) c.690A>T (n.690A>T) c.86A>T (p.Asn29Ile) c.-104+24894T>A (n.-104+24894T>A) c.-68A>T (n.-68A>T) c.785A>T (p.Asn262Ile) n.878A>T | |
1 | g.67206953del | CA645514979 | C1orf141,IL23R | c.572del (n.572del) c.535del (n.535del) c.696del (p.Asn232LysfsTer8) c.492-12621del (n.492-12621del) c.652+6056del (n.652+6056del) c.491+23994del (n.491+23994del) c.625del (n.625del) c.647+6056del (n.647+6056del) c.691del (n.691del) c.87del (p.Asn29LysfsTer8) c.-104+24893del (n.-104+24893del) c.-67del (n.-67del) c.786del (p.Asn262LysfsTer8) n.879del | COSMIC |
1 | g.67206953T>A | CA340728189 | C1orf141,IL23R | c.572T>A (n.572T>A) c.535T>A (n.535T>A) c.696T>A (p.Asn232Lys) c.492-12621T>A (n.492-12621T>A) c.652+6056T>A (n.652+6056T>A) c.491+23994T>A (n.491+23994T>A) c.625T>A (n.625T>A) c.647+6056T>A (n.647+6056T>A) c.691T>A (n.691T>A) c.87T>A (p.Asn29Lys) c.-104+24893A>T (n.-104+24893A>T) c.-67T>A (n.-67T>A) c.786T>A (p.Asn262Lys) n.879T>A | |
1 | g.67206953T>C | CA418269550 | C1orf141,IL23R | c.572T>C (n.572T>C) c.535T>C (n.535T>C) c.696T>C (p.Asn232=) c.492-12621T>C (n.492-12621T>C) c.652+6056T>C (n.652+6056T>C) c.491+23994T>C (n.491+23994T>C) c.625T>C (n.625T>C) c.647+6056T>C (n.647+6056T>C) c.691T>C (n.691T>C) c.87T>C (p.Asn29=) c.-104+24893A>G (n.-104+24893A>G) c.-67T>C (n.-67T>C) c.786T>C (p.Asn262=) n.879T>C | |
1 | g.67206953T>G | CA340728191 | C1orf141,IL23R | c.572T>G (n.572T>G) c.535T>G (n.535T>G) c.696T>G (p.Asn232Lys) c.492-12621T>G (n.492-12621T>G) c.652+6056T>G (n.652+6056T>G) c.491+23994T>G (n.491+23994T>G) c.625T>G (n.625T>G) c.647+6056T>G (n.647+6056T>G) c.691T>G (n.691T>G) c.87T>G (p.Asn29Lys) c.-104+24893A>C (n.-104+24893A>C) c.-67T>G (n.-67T>G) c.786T>G (p.Asn262Lys) n.879T>G | |
1 | g.67206954G>A | CA340728193 | C1orf141,IL23R | c.573G>A (n.573G>A) c.536G>A (n.536G>A) c.697G>A (p.Ala233Thr) c.492-12620G>A (n.492-12620G>A) c.652+6057G>A (n.652+6057G>A) c.491+23995G>A (n.491+23995G>A) c.626G>A (n.626G>A) c.647+6057G>A (n.647+6057G>A) c.692G>A (n.692G>A) c.88G>A (p.Ala30Thr) c.-104+24892C>T (n.-104+24892C>T) c.-66G>A (n.-66G>A) c.787G>A (p.Ala263Thr) n.880G>A | |
1 | g.67206954G>C | CA340728195 | C1orf141,IL23R | c.573G>C (n.573G>C) c.536G>C (n.536G>C) c.697G>C (p.Ala233Pro) c.492-12620G>C (n.492-12620G>C) c.652+6057G>C (n.652+6057G>C) c.491+23995G>C (n.491+23995G>C) c.626G>C (n.626G>C) c.647+6057G>C (n.647+6057G>C) c.692G>C (n.692G>C) c.88G>C (p.Ala30Pro) c.-104+24892C>G (n.-104+24892C>G) c.-66G>C (n.-66G>C) c.787G>C (p.Ala263Pro) n.880G>C | |
1 | g.67206954G>T | CA340728196 | C1orf141,IL23R | c.573G>T (n.573G>T) c.536G>T (n.536G>T) c.697G>T (p.Ala233Ser) c.492-12620G>T (n.492-12620G>T) c.652+6057G>T (n.652+6057G>T) c.491+23995G>T (n.491+23995G>T) c.626G>T (n.626G>T) c.647+6057G>T (n.647+6057G>T) c.692G>T (n.692G>T) c.88G>T (p.Ala30Ser) c.-104+24892C>A (n.-104+24892C>A) c.-66G>T (n.-66G>T) c.787G>T (p.Ala263Ser) n.880G>T | gnomAD v3 gnomAD v4 |
1 | g.67206955C>A | CA340728199 | C1orf141,IL23R | c.574C>A (n.574C>A) c.537C>A (n.537C>A) c.698C>A (p.Ala233Asp) c.492-12619C>A (n.492-12619C>A) c.652+6058C>A (n.652+6058C>A) c.491+23996C>A (n.491+23996C>A) c.627C>A (n.627C>A) c.647+6058C>A (n.647+6058C>A) c.693C>A (n.693C>A) c.89C>A (p.Ala30Asp) c.-104+24891G>T (n.-104+24891G>T) c.-65C>A (n.-65C>A) c.788C>A (p.Ala263Asp) n.881C>A | |
1 | g.67206955C= | CA1173042439 | C1orf141,IL23R | c.574C= (n.574C=) c.537C= (n.537C=) c.698C= (p.Ala233=) c.492-12619C= (n.492-12619C=) c.652+6058C= (n.652+6058C=) c.491+23996C= (n.491+23996C=) c.627C= (n.627C=) c.647+6058C= (n.647+6058C=) c.693C= (n.693C=) c.89C= (p.Ala30=) c.-104+24891G= (n.-104+24891G=) c.-65C= (n.-65C=) c.788C= (p.Ala263=) n.881C= | |
1 | g.67206955C>G | CA340728200 | C1orf141,IL23R | c.574C>G (n.574C>G) c.537C>G (n.537C>G) c.698C>G (p.Ala233Gly) c.492-12619C>G (n.492-12619C>G) c.652+6058C>G (n.652+6058C>G) c.491+23996C>G (n.491+23996C>G) c.627C>G (n.627C>G) c.647+6058C>G (n.647+6058C>G) c.693C>G (n.693C>G) c.89C>G (p.Ala30Gly) c.-104+24891G>C (n.-104+24891G>C) c.-65C>G (n.-65C>G) c.788C>G (p.Ala263Gly) n.881C>G | |
1 | g.67206955C>T | CA340728201 | C1orf141,IL23R | c.574C>T (n.574C>T) c.537C>T (n.537C>T) c.698C>T (p.Ala233Val) c.492-12619C>T (n.492-12619C>T) c.652+6058C>T (n.652+6058C>T) c.491+23996C>T (n.491+23996C>T) c.627C>T (n.627C>T) c.647+6058C>T (n.647+6058C>T) c.693C>T (n.693C>T) c.89C>T (p.Ala30Val) c.-104+24891G>A (n.-104+24891G>A) c.-65C>T (n.-65C>T) c.788C>T (p.Ala263Val) n.881C>T | dbSNP gnomAD v4 |
1 | g.67206956T>A | CA418269552 | C1orf141,IL23R | c.575T>A (n.575T>A) c.538T>A (n.538T>A) c.699T>A (p.Ala233=) c.492-12618T>A (n.492-12618T>A) c.652+6059T>A (n.652+6059T>A) c.491+23997T>A (n.491+23997T>A) c.628T>A (n.628T>A) c.647+6059T>A (n.647+6059T>A) c.694T>A (n.694T>A) c.90T>A (p.Ala30=) c.-104+24890A>T (n.-104+24890A>T) c.-64T>A (n.-64T>A) c.789T>A (p.Ala263=) n.882T>A | |
1 | g.67206956T>C | CA899799 | C1orf141,IL23R | c.575T>C (n.575T>C) c.538T>C (n.538T>C) c.699T>C (p.Ala233=) c.492-12618T>C (n.492-12618T>C) c.652+6059T>C (n.652+6059T>C) c.491+23997T>C (n.491+23997T>C) c.628T>C (n.628T>C) c.647+6059T>C (n.647+6059T>C) c.694T>C (n.694T>C) c.90T>C (p.Ala30=) c.-104+24890A>G (n.-104+24890A>G) c.-64T>C (n.-64T>C) c.789T>C (p.Ala263=) n.882T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.67206956T>G | CA418269551 | C1orf141,IL23R | c.575T>G (n.575T>G) c.538T>G (n.538T>G) c.699T>G (p.Ala233=) c.492-12618T>G (n.492-12618T>G) c.652+6059T>G (n.652+6059T>G) c.491+23997T>G (n.491+23997T>G) c.628T>G (n.628T>G) c.647+6059T>G (n.647+6059T>G) c.694T>G (n.694T>G) c.90T>G (p.Ala30=) c.-104+24890A>C (n.-104+24890A>C) c.-64T>G (n.-64T>G) c.789T>G (p.Ala263=) n.882T>G | |
1 | g.67206956T= | CA1148473652 | C1orf141,IL23R | c.575T= (n.575T=) c.538T= (n.538T=) c.699T= (p.Ala233=) c.492-12618T= (n.492-12618T=) c.652+6059T= (n.652+6059T=) c.491+23997T= (n.491+23997T=) c.628T= (n.628T=) c.647+6059T= (n.647+6059T=) c.694T= (n.694T=) c.90T= (p.Ala30=) c.-104+24890A= (n.-104+24890A=) c.-64T= (n.-64T=) c.789T= (p.Ala263=) n.882T= | |
1 | g.67206957A= | CA1173042440 | C1orf141,IL23R | c.576A= (n.576A=) c.539A= (n.539A=) c.700A= (p.Thr234=) c.492-12617A= (n.492-12617A=) c.652+6060A= (n.652+6060A=) c.491+23998A= (n.491+23998A=) c.629A= (n.629A=) c.647+6060A= (n.647+6060A=) c.695A= (n.695A=) c.91A= (p.Thr31=) c.-104+24889T= (n.-104+24889T=) c.-63A= (n.-63A=) c.790A= (p.Thr264=) n.883A= | |
1 | g.67206957A>C | CA340728204 | C1orf141,IL23R | c.576A>C (n.576A>C) c.539A>C (n.539A>C) c.700A>C (p.Thr234Pro) c.492-12617A>C (n.492-12617A>C) c.652+6060A>C (n.652+6060A>C) c.491+23998A>C (n.491+23998A>C) c.629A>C (n.629A>C) c.647+6060A>C (n.647+6060A>C) c.695A>C (n.695A>C) c.91A>C (p.Thr31Pro) c.-104+24889T>G (n.-104+24889T>G) c.-63A>C (n.-63A>C) c.790A>C (p.Thr264Pro) n.883A>C | |
1 | g.67206957A>G | CA899800 | C1orf141,IL23R | c.576A>G (n.576A>G) c.539A>G (n.539A>G) c.700A>G (p.Thr234Ala) c.492-12617A>G (n.492-12617A>G) c.652+6060A>G (n.652+6060A>G) c.491+23998A>G (n.491+23998A>G) c.629A>G (n.629A>G) c.647+6060A>G (n.647+6060A>G) c.695A>G (n.695A>G) c.91A>G (p.Thr31Ala) c.-104+24889T>C (n.-104+24889T>C) c.-63A>G (n.-63A>G) c.790A>G (p.Thr264Ala) n.883A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.67206957A>T | CA340728207 | C1orf141,IL23R | c.576A>T (n.576A>T) c.539A>T (n.539A>T) c.700A>T (p.Thr234Ser) c.492-12617A>T (n.492-12617A>T) c.652+6060A>T (n.652+6060A>T) c.491+23998A>T (n.491+23998A>T) c.629A>T (n.629A>T) c.647+6060A>T (n.647+6060A>T) c.695A>T (n.695A>T) c.91A>T (p.Thr31Ser) c.-104+24889T>A (n.-104+24889T>A) c.-63A>T (n.-63A>T) c.790A>T (p.Thr264Ser) n.883A>T | |
1 | g.67206958C>A | CA340728211 | C1orf141,IL23R | c.577C>A (n.577C>A) c.540C>A (n.540C>A) c.701C>A (p.Thr234Lys) c.492-12616C>A (n.492-12616C>A) c.652+6061C>A (n.652+6061C>A) c.491+23999C>A (n.491+23999C>A) c.630C>A (n.630C>A) c.647+6061C>A (n.647+6061C>A) c.696C>A (n.696C>A) c.92C>A (p.Thr31Lys) c.-104+24888G>T (n.-104+24888G>T) c.-62C>A (n.-62C>A) c.791C>A (p.Thr264Lys) n.884C>A | |
1 | g.67206958C>G | CA340728219 | C1orf141,IL23R | c.577C>G (n.577C>G) c.540C>G (n.540C>G) c.701C>G (p.Thr234Arg) c.492-12616C>G (n.492-12616C>G) c.652+6061C>G (n.652+6061C>G) c.491+23999C>G (n.491+23999C>G) c.630C>G (n.630C>G) c.647+6061C>G (n.647+6061C>G) c.696C>G (n.696C>G) c.92C>G (p.Thr31Arg) c.-104+24888G>C (n.-104+24888G>C) c.-62C>G (n.-62C>G) c.791C>G (p.Thr264Arg) n.884C>G | |
1 | g.67206958C>T | CA340728209 | C1orf141,IL23R | c.577C>T (n.577C>T) c.540C>T (n.540C>T) c.701C>T (p.Thr234Ile) c.492-12616C>T (n.492-12616C>T) c.652+6061C>T (n.652+6061C>T) c.491+23999C>T (n.491+23999C>T) c.630C>T (n.630C>T) c.647+6061C>T (n.647+6061C>T) c.696C>T (n.696C>T) c.92C>T (p.Thr31Ile) c.-104+24888G>A (n.-104+24888G>A) c.-62C>T (n.-62C>T) c.791C>T (p.Thr264Ile) n.884C>T | |
1 | g.67206959A= | CA1173042441 | C1orf141,IL23R | c.578A= (n.578A=) c.541A= (n.541A=) c.702A= (p.Thr234=) c.492-12615A= (n.492-12615A=) c.652+6062A= (n.652+6062A=) c.491+24000A= (n.491+24000A=) c.631A= (n.631A=) c.647+6062A= (n.647+6062A=) c.697A= (n.697A=) c.93A= (p.Thr31=) c.-104+24887T= (n.-104+24887T=) c.-61A= (n.-61A=) c.792A= (p.Thr264=) n.885A= | |
1 | g.67206959A>C | CA418269553 | C1orf141,IL23R | c.578A>C (n.578A>C) c.541A>C (n.541A>C) c.702A>C (p.Thr234=) c.492-12615A>C (n.492-12615A>C) c.652+6062A>C (n.652+6062A>C) c.491+24000A>C (n.491+24000A>C) c.631A>C (n.631A>C) c.647+6062A>C (n.647+6062A>C) c.697A>C (n.697A>C) c.93A>C (p.Thr31=) c.-104+24887T>G (n.-104+24887T>G) c.-61A>C (n.-61A>C) c.792A>C (p.Thr264=) n.885A>C | |
1 | g.67206959A>G | CA418269554 | C1orf141,IL23R | c.578A>G (n.578A>G) c.541A>G (n.541A>G) c.702A>G (p.Thr234=) c.492-12615A>G (n.492-12615A>G) c.652+6062A>G (n.652+6062A>G) c.491+24000A>G (n.491+24000A>G) c.631A>G (n.631A>G) c.647+6062A>G (n.647+6062A>G) c.697A>G (n.697A>G) c.93A>G (p.Thr31=) c.-104+24887T>C (n.-104+24887T>C) c.-61A>G (n.-61A>G) c.792A>G (p.Thr264=) n.885A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.67206959A>T | CA418269555 | C1orf141,IL23R | c.578A>T (n.578A>T) c.541A>T (n.541A>T) c.702A>T (p.Thr234=) c.492-12615A>T (n.492-12615A>T) c.652+6062A>T (n.652+6062A>T) c.491+24000A>T (n.491+24000A>T) c.631A>T (n.631A>T) c.647+6062A>T (n.647+6062A>T) c.697A>T (n.697A>T) c.93A>T (p.Thr31=) c.-104+24887T>A (n.-104+24887T>A) c.-61A>T (n.-61A>T) c.792A>T (p.Thr264=) n.885A>T | |
1 | g.67206960G>A | CA340728220 | C1orf141,IL23R | c.579G>A (n.579G>A) c.542G>A (n.542G>A) c.703G>A (p.Val235Met) c.492-12614G>A (n.492-12614G>A) c.652+6063G>A (n.652+6063G>A) c.491+24001G>A (n.491+24001G>A) c.632G>A (n.632G>A) c.647+6063G>A (n.647+6063G>A) c.698G>A (n.698G>A) c.94G>A (p.Val32Met) c.-104+24886C>T (n.-104+24886C>T) c.-60G>A (n.-60G>A) c.793G>A (p.Val265Met) n.886G>A | |
1 | g.67206960G>C | CA340728222 | C1orf141,IL23R | c.579G>C (n.579G>C) c.542G>C (n.542G>C) c.703G>C (p.Val235Leu) c.492-12614G>C (n.492-12614G>C) c.652+6063G>C (n.652+6063G>C) c.491+24001G>C (n.491+24001G>C) c.632G>C (n.632G>C) c.647+6063G>C (n.647+6063G>C) c.698G>C (n.698G>C) c.94G>C (p.Val32Leu) c.-104+24886C>G (n.-104+24886C>G) c.-60G>C (n.-60G>C) c.793G>C (p.Val265Leu) n.886G>C | |
1 | g.67206960G>T | CA340728223 | C1orf141,IL23R | c.579G>T (n.579G>T) c.542G>T (n.542G>T) c.703G>T (p.Val235Leu) c.492-12614G>T (n.492-12614G>T) c.652+6063G>T (n.652+6063G>T) c.491+24001G>T (n.491+24001G>T) c.632G>T (n.632G>T) c.647+6063G>T (n.647+6063G>T) c.698G>T (n.698G>T) c.94G>T (p.Val32Leu) c.-104+24886C>A (n.-104+24886C>A) c.-60G>T (n.-60G>T) c.793G>T (p.Val265Leu) n.886G>T | |
1 | g.67206961T>A | CA340728224 | C1orf141,IL23R | c.580T>A (n.580T>A) c.543T>A (n.543T>A) c.704T>A (p.Val235Glu) c.492-12613T>A (n.492-12613T>A) c.652+6064T>A (n.652+6064T>A) c.491+24002T>A (n.491+24002T>A) c.633T>A (n.633T>A) c.647+6064T>A (n.647+6064T>A) c.699T>A (n.699T>A) c.95T>A (p.Val32Glu) c.-104+24885A>T (n.-104+24885A>T) c.-59T>A (n.-59T>A) c.794T>A (p.Val265Glu) n.887T>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.67206961T>C | CA340728226 | C1orf141,IL23R | c.580T>C (n.580T>C) c.543T>C (n.543T>C) c.704T>C (p.Val235Ala) c.492-12613T>C (n.492-12613T>C) c.652+6064T>C (n.652+6064T>C) c.491+24002T>C (n.491+24002T>C) c.633T>C (n.633T>C) c.647+6064T>C (n.647+6064T>C) c.699T>C (n.699T>C) c.95T>C (p.Val32Ala) c.-104+24885A>G (n.-104+24885A>G) c.-59T>C (n.-59T>C) c.794T>C (p.Val265Ala) n.887T>C | |
1 | g.67206961T>G | CA340728227 | C1orf141,IL23R | c.580T>G (n.580T>G) c.543T>G (n.543T>G) c.704T>G (p.Val235Gly) c.492-12613T>G (n.492-12613T>G) c.652+6064T>G (n.652+6064T>G) c.491+24002T>G (n.491+24002T>G) c.633T>G (n.633T>G) c.647+6064T>G (n.647+6064T>G) c.699T>G (n.699T>G) c.95T>G (p.Val32Gly) c.-104+24885A>C (n.-104+24885A>C) c.-59T>G (n.-59T>G) c.794T>G (p.Val265Gly) n.887T>G | dbSNP |
1 | g.67206961T= | CA1173042442 | C1orf141,IL23R | c.580T= (n.580T=) c.543T= (n.543T=) c.704T= (p.Val235=) c.492-12613T= (n.492-12613T=) c.652+6064T= (n.652+6064T=) c.491+24002T= (n.491+24002T=) c.633T= (n.633T=) c.647+6064T= (n.647+6064T=) c.699T= (n.699T=) c.95T= (p.Val32=) c.-104+24885A= (n.-104+24885A=) c.-59T= (n.-59T=) c.794T= (p.Val265=) n.887T= | |
1 | g.67206962G>A | CA418269558 | C1orf141,IL23R | c.581G>A (n.581G>A) c.544G>A (n.544G>A) c.705G>A (p.Val235=) c.492-12612G>A (n.492-12612G>A) c.652+6065G>A (n.652+6065G>A) c.491+24003G>A (n.491+24003G>A) c.634G>A (n.634G>A) c.647+6065G>A (n.647+6065G>A) c.700G>A (n.700G>A) c.96G>A (p.Val32=) c.-104+24884C>T (n.-104+24884C>T) c.-58G>A (n.-58G>A) c.795G>A (p.Val265=) n.888G>A | ClinVar dbSNP gnomAD v4 |
1 | g.67206962G>C | CA418269557 | C1orf141,IL23R | c.581G>C (n.581G>C) c.544G>C (n.544G>C) c.705G>C (p.Val235=) c.492-12612G>C (n.492-12612G>C) c.652+6065G>C (n.652+6065G>C) c.491+24003G>C (n.491+24003G>C) c.634G>C (n.634G>C) c.647+6065G>C (n.647+6065G>C) c.700G>C (n.700G>C) c.96G>C (p.Val32=) c.-104+24884C>G (n.-104+24884C>G) c.-58G>C (n.-58G>C) c.795G>C (p.Val265=) n.888G>C | |
1 | g.67206962G= | CA1173042443 | C1orf141,IL23R | c.581G= (n.581G=) c.544G= (n.544G=) c.705G= (p.Val235=) c.492-12612G= (n.492-12612G=) c.652+6065G= (n.652+6065G=) c.491+24003G= (n.491+24003G=) c.634G= (n.634G=) c.647+6065G= (n.647+6065G=) c.700G= (n.700G=) c.96G= (p.Val32=) c.-104+24884C= (n.-104+24884C=) c.-58G= (n.-58G=) c.795G= (p.Val265=) n.888G= | |
1 | g.67206962G>T | CA418269556 | C1orf141,IL23R | c.581G>T (n.581G>T) c.544G>T (n.544G>T) c.705G>T (p.Val235=) c.492-12612G>T (n.492-12612G>T) c.652+6065G>T (n.652+6065G>T) c.491+24003G>T (n.491+24003G>T) c.634G>T (n.634G>T) c.647+6065G>T (n.647+6065G>T) c.700G>T (n.700G>T) c.96G>T (p.Val32=) c.-104+24884C>A (n.-104+24884C>A) c.-58G>T (n.-58G>T) c.795G>T (p.Val265=) n.888G>T | |
1 | g.67206963C>A | CA23532649 | C1orf141,IL23R | c.582C>A (n.582C>A) c.545C>A (n.545C>A) c.706C>A (p.Pro236Thr) c.492-12611C>A (n.492-12611C>A) c.652+6066C>A (n.652+6066C>A) c.491+24004C>A (n.491+24004C>A) c.635C>A (n.635C>A) c.647+6066C>A (n.647+6066C>A) c.701C>A (n.701C>A) c.97C>A (p.Pro33Thr) c.-104+24883G>T (n.-104+24883G>T) c.-57C>A (n.-57C>A) c.796C>A (p.Pro266Thr) n.889C>A | dbSNP |
1 | g.67206963C= | CA1173042444 | C1orf141,IL23R | c.582C= (n.582C=) c.545C= (n.545C=) c.706C= (p.Pro236=) c.492-12611C= (n.492-12611C=) c.652+6066C= (n.652+6066C=) c.491+24004C= (n.491+24004C=) c.635C= (n.635C=) c.647+6066C= (n.647+6066C=) c.701C= (n.701C=) c.97C= (p.Pro33=) c.-104+24883G= (n.-104+24883G=) c.-57C= (n.-57C=) c.796C= (p.Pro266=) n.889C= | |
1 | g.67206963C>G | CA340728230 | C1orf141,IL23R | c.582C>G (n.582C>G) c.545C>G (n.545C>G) c.706C>G (p.Pro236Ala) c.492-12611C>G (n.492-12611C>G) c.652+6066C>G (n.652+6066C>G) c.491+24004C>G (n.491+24004C>G) c.635C>G (n.635C>G) c.647+6066C>G (n.647+6066C>G) c.701C>G (n.701C>G) c.97C>G (p.Pro33Ala) c.-104+24883G>C (n.-104+24883G>C) c.-57C>G (n.-57C>G) c.796C>G (p.Pro266Ala) n.889C>G | |
1 | g.67206963C>T | CA340728232 | C1orf141,IL23R | c.582C>T (n.582C>T) c.545C>T (n.545C>T) c.706C>T (p.Pro236Ser) c.492-12611C>T (n.492-12611C>T) c.652+6066C>T (n.652+6066C>T) c.491+24004C>T (n.491+24004C>T) c.635C>T (n.635C>T) c.647+6066C>T (n.647+6066C>T) c.701C>T (n.701C>T) c.97C>T (p.Pro33Ser) c.-104+24883G>A (n.-104+24883G>A) c.-57C>T (n.-57C>T) c.796C>T (p.Pro266Ser) n.889C>T | dbSNP gnomAD v4 |
1 | g.67206964C>A | CA340728234 | C1orf141,IL23R | c.583C>A (n.583C>A) c.546C>A (n.546C>A) c.707C>A (p.Pro236His) c.492-12610C>A (n.492-12610C>A) c.652+6067C>A (n.652+6067C>A) c.491+24005C>A (n.491+24005C>A) c.636C>A (n.636C>A) c.647+6067C>A (n.647+6067C>A) c.702C>A (n.702C>A) c.98C>A (p.Pro33His) c.-104+24882G>T (n.-104+24882G>T) c.-56C>A (n.-56C>A) c.797C>A (p.Pro266His) n.890C>A | |
1 | g.67206964C= | CA1173042445 | C1orf141,IL23R | c.583C= (n.583C=) c.546C= (n.546C=) c.707C= (p.Pro236=) c.492-12610C= (n.492-12610C=) c.652+6067C= (n.652+6067C=) c.491+24005C= (n.491+24005C=) c.636C= (n.636C=) c.647+6067C= (n.647+6067C=) c.702C= (n.702C=) c.98C= (p.Pro33=) c.-104+24882G= (n.-104+24882G=) c.-56C= (n.-56C=) c.797C= (p.Pro266=) n.890C= | |
1 | g.67206964C>G | CA340728235 | C1orf141,IL23R | c.583C>G (n.583C>G) c.546C>G (n.546C>G) c.707C>G (p.Pro236Arg) c.492-12610C>G (n.492-12610C>G) c.652+6067C>G (n.652+6067C>G) c.491+24005C>G (n.491+24005C>G) c.636C>G (n.636C>G) c.647+6067C>G (n.647+6067C>G) c.702C>G (n.702C>G) c.98C>G (p.Pro33Arg) c.-104+24882G>C (n.-104+24882G>C) c.-56C>G (n.-56C>G) c.797C>G (p.Pro266Arg) n.890C>G | dbSNP |
1 | g.67206964C>T | CA340728237 | C1orf141,IL23R | c.583C>T (n.583C>T) c.546C>T (n.546C>T) c.707C>T (p.Pro236Leu) c.492-12610C>T (n.492-12610C>T) c.652+6067C>T (n.652+6067C>T) c.491+24005C>T (n.491+24005C>T) c.636C>T (n.636C>T) c.647+6067C>T (n.647+6067C>T) c.702C>T (n.702C>T) c.98C>T (p.Pro33Leu) c.-104+24882G>A (n.-104+24882G>A) c.-56C>T (n.-56C>T) c.797C>T (p.Pro266Leu) n.890C>T | |
1 | g.67206965C>A | CA418269559 | C1orf141,IL23R | c.584C>A (n.584C>A) c.547C>A (n.547C>A) c.708C>A (p.Pro236=) c.492-12609C>A (n.492-12609C>A) c.652+6068C>A (n.652+6068C>A) c.491+24006C>A (n.491+24006C>A) c.637C>A (n.637C>A) c.647+6068C>A (n.647+6068C>A) c.703C>A (n.703C>A) c.99C>A (p.Pro33=) c.-104+24881G>T (n.-104+24881G>T) c.-55C>A (n.-55C>A) c.798C>A (p.Pro266=) n.891C>A | |
1 | g.67206965C>G | CA418269560 | C1orf141,IL23R | c.584C>G (n.584C>G) c.547C>G (n.547C>G) c.708C>G (p.Pro236=) c.492-12609C>G (n.492-12609C>G) c.652+6068C>G (n.652+6068C>G) c.491+24006C>G (n.491+24006C>G) c.637C>G (n.637C>G) c.647+6068C>G (n.647+6068C>G) c.703C>G (n.703C>G) c.99C>G (p.Pro33=) c.-104+24881G>C (n.-104+24881G>C) c.-55C>G (n.-55C>G) c.798C>G (p.Pro266=) n.891C>G | |
1 | g.67206965C>T | CA418269561 | C1orf141,IL23R | c.584C>T (n.584C>T) c.547C>T (n.547C>T) c.708C>T (p.Pro236=) c.492-12609C>T (n.492-12609C>T) c.652+6068C>T (n.652+6068C>T) c.491+24006C>T (n.491+24006C>T) c.637C>T (n.637C>T) c.647+6068C>T (n.647+6068C>T) c.703C>T (n.703C>T) c.99C>T (p.Pro33=) c.-104+24881G>A (n.-104+24881G>A) c.-55C>T (n.-55C>T) c.798C>T (p.Pro266=) n.891C>T | |
1 | g.67206966A= | CA1173042446 | C1orf141,IL23R | c.585A= (n.585A=) c.548A= (n.548A=) c.709A= (p.Lys237=) c.492-12608A= (n.492-12608A=) c.652+6069A= (n.652+6069A=) c.491+24007A= (n.491+24007A=) c.638A= (n.638A=) c.647+6069A= (n.647+6069A=) c.704A= (n.704A=) c.100A= (p.Lys34=) c.-104+24880T= (n.-104+24880T=) c.-54A= (n.-54A=) c.799A= (p.Lys267=) n.892A= | |
1 | g.67206966A>C | CA340728240 | C1orf141,IL23R | c.585A>C (n.585A>C) c.548A>C (n.548A>C) c.709A>C (p.Lys237Gln) c.492-12608A>C (n.492-12608A>C) c.652+6069A>C (n.652+6069A>C) c.491+24007A>C (n.491+24007A>C) c.638A>C (n.638A>C) c.647+6069A>C (n.647+6069A>C) c.704A>C (n.704A>C) c.100A>C (p.Lys34Gln) c.-104+24880T>G (n.-104+24880T>G) c.-54A>C (n.-54A>C) c.799A>C (p.Lys267Gln) n.892A>C | |
1 | g.67206966A>G | CA340728241 | C1orf141,IL23R | c.585A>G (n.585A>G) c.548A>G (n.548A>G) c.709A>G (p.Lys237Glu) c.492-12608A>G (n.492-12608A>G) c.652+6069A>G (n.652+6069A>G) c.491+24007A>G (n.491+24007A>G) c.638A>G (n.638A>G) c.647+6069A>G (n.647+6069A>G) c.704A>G (n.704A>G) c.100A>G (p.Lys34Glu) c.-104+24880T>C (n.-104+24880T>C) c.-54A>G (n.-54A>G) c.799A>G (p.Lys267Glu) n.892A>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206966A>T | CA340728238 | C1orf141,IL23R | c.585A>T (n.585A>T) c.548A>T (n.548A>T) c.709A>T (p.Lys237Ter) c.492-12608A>T (n.492-12608A>T) c.652+6069A>T (n.652+6069A>T) c.491+24007A>T (n.491+24007A>T) c.638A>T (n.638A>T) c.647+6069A>T (n.647+6069A>T) c.704A>T (n.704A>T) c.100A>T (p.Lys34Ter) c.-104+24880T>A (n.-104+24880T>A) c.-54A>T (n.-54A>T) c.799A>T (p.Lys267Ter) n.892A>T | |
1 | g.67206967A= | CA1173042447 | C1orf141,IL23R | c.586A= (n.586A=) c.549A= (n.549A=) c.710A= (p.Lys237=) c.492-12607A= (n.492-12607A=) c.652+6070A= (n.652+6070A=) c.491+24008A= (n.491+24008A=) c.639A= (n.639A=) c.647+6070A= (n.647+6070A=) c.705A= (n.705A=) c.101A= (p.Lys34=) c.-104+24879T= (n.-104+24879T=) c.-53A= (n.-53A=) c.800A= (p.Lys267=) n.893A= | |
1 | g.67206967A>C | CA340728243 | C1orf141,IL23R | c.586A>C (n.586A>C) c.549A>C (n.549A>C) c.710A>C (p.Lys237Thr) c.492-12607A>C (n.492-12607A>C) c.652+6070A>C (n.652+6070A>C) c.491+24008A>C (n.491+24008A>C) c.639A>C (n.639A>C) c.647+6070A>C (n.647+6070A>C) c.705A>C (n.705A>C) c.101A>C (p.Lys34Thr) c.-104+24879T>G (n.-104+24879T>G) c.-53A>C (n.-53A>C) c.800A>C (p.Lys267Thr) n.893A>C | |
1 | g.67206967A>G | CA340728245 | C1orf141,IL23R | c.586A>G (n.586A>G) c.549A>G (n.549A>G) c.710A>G (p.Lys237Arg) c.492-12607A>G (n.492-12607A>G) c.652+6070A>G (n.652+6070A>G) c.491+24008A>G (n.491+24008A>G) c.639A>G (n.639A>G) c.647+6070A>G (n.647+6070A>G) c.705A>G (n.705A>G) c.101A>G (p.Lys34Arg) c.-104+24879T>C (n.-104+24879T>C) c.-53A>G (n.-53A>G) c.800A>G (p.Lys267Arg) n.893A>G | dbSNP gnomAD v4 |
1 | g.67206967A>T | CA340728246 | C1orf141,IL23R | c.586A>T (n.586A>T) c.549A>T (n.549A>T) c.710A>T (p.Lys237Met) c.492-12607A>T (n.492-12607A>T) c.652+6070A>T (n.652+6070A>T) c.491+24008A>T (n.491+24008A>T) c.639A>T (n.639A>T) c.647+6070A>T (n.647+6070A>T) c.705A>T (n.705A>T) c.101A>T (p.Lys34Met) c.-104+24879T>A (n.-104+24879T>A) c.-53A>T (n.-53A>T) c.800A>T (p.Lys267Met) n.893A>T | |
1 | g.67206968G>A | CA418269562 | C1orf141,IL23R | c.587G>A (n.587G>A) c.550G>A (n.550G>A) c.711G>A (p.Lys237=) c.492-12606G>A (n.492-12606G>A) c.652+6071G>A (n.652+6071G>A) c.491+24009G>A (n.491+24009G>A) c.640G>A (n.640G>A) c.647+6071G>A (n.647+6071G>A) c.706G>A (n.706G>A) c.102G>A (p.Lys34=) c.-104+24878C>T (n.-104+24878C>T) c.-52G>A (n.-52G>A) c.801G>A (p.Lys267=) n.894G>A | |
1 | g.67206968G>C | CA340728248 | C1orf141,IL23R | c.587G>C (n.587G>C) c.550G>C (n.550G>C) c.711G>C (p.Lys237Asn) c.492-12606G>C (n.492-12606G>C) c.652+6071G>C (n.652+6071G>C) c.491+24009G>C (n.491+24009G>C) c.640G>C (n.640G>C) c.647+6071G>C (n.647+6071G>C) c.706G>C (n.706G>C) c.102G>C (p.Lys34Asn) c.-104+24878C>G (n.-104+24878C>G) c.-52G>C (n.-52G>C) c.801G>C (p.Lys267Asn) n.894G>C | |
1 | g.67206968G= | CA1173042448 | C1orf141,IL23R | c.587G= (n.587G=) c.550G= (n.550G=) c.711G= (p.Lys237=) c.492-12606G= (n.492-12606G=) c.652+6071G= (n.652+6071G=) c.491+24009G= (n.491+24009G=) c.640G= (n.640G=) c.647+6071G= (n.647+6071G=) c.706G= (n.706G=) c.102G= (p.Lys34=) c.-104+24878C= (n.-104+24878C=) c.-52G= (n.-52G=) c.801G= (p.Lys267=) n.894G= | |
1 | g.67206968G>T | CA340728250 | C1orf141,IL23R | c.587G>T (n.587G>T) c.550G>T (n.550G>T) c.711G>T (p.Lys237Asn) c.492-12606G>T (n.492-12606G>T) c.652+6071G>T (n.652+6071G>T) c.491+24009G>T (n.491+24009G>T) c.640G>T (n.640G>T) c.647+6071G>T (n.647+6071G>T) c.706G>T (n.706G>T) c.102G>T (p.Lys34Asn) c.-104+24878C>A (n.-104+24878C>A) c.-52G>T (n.-52G>T) c.801G>T (p.Lys267Asn) n.894G>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.67206969A>C | CA340728255 | C1orf141,IL23R | c.588A>C (n.588A>C) c.551A>C (n.551A>C) c.712A>C (p.Thr238Pro) c.492-12605A>C (n.492-12605A>C) c.652+6072A>C (n.652+6072A>C) c.491+24010A>C (n.491+24010A>C) c.641A>C (n.641A>C) c.647+6072A>C (n.647+6072A>C) c.707A>C (n.707A>C) c.103A>C (p.Thr35Pro) c.-104+24877T>G (n.-104+24877T>G) c.-51A>C (n.-51A>C) c.802A>C (p.Thr268Pro) n.895A>C | |
1 | g.67206969A>G | CA340728254 | C1orf141,IL23R | c.588A>G (n.588A>G) c.551A>G (n.551A>G) c.712A>G (p.Thr238Ala) c.492-12605A>G (n.492-12605A>G) c.652+6072A>G (n.652+6072A>G) c.491+24010A>G (n.491+24010A>G) c.641A>G (n.641A>G) c.647+6072A>G (n.647+6072A>G) c.707A>G (n.707A>G) c.103A>G (p.Thr35Ala) c.-104+24877T>C (n.-104+24877T>C) c.-51A>G (n.-51A>G) c.802A>G (p.Thr268Ala) n.895A>G | |
1 | g.67206969A>T | CA340728252 | C1orf141,IL23R | c.588A>T (n.588A>T) c.551A>T (n.551A>T) c.712A>T (p.Thr238Ser) c.492-12605A>T (n.492-12605A>T) c.652+6072A>T (n.652+6072A>T) c.491+24010A>T (n.491+24010A>T) c.641A>T (n.641A>T) c.647+6072A>T (n.647+6072A>T) c.707A>T (n.707A>T) c.103A>T (p.Thr35Ser) c.-104+24877T>A (n.-104+24877T>A) c.-51A>T (n.-51A>T) c.802A>T (p.Thr268Ser) n.895A>T | |
1 | g.67206970C>A | CA340728257 | C1orf141,IL23R | c.589C>A (n.589C>A) c.552C>A (n.552C>A) c.713C>A (p.Thr238Asn) c.492-12604C>A (n.492-12604C>A) c.652+6073C>A (n.652+6073C>A) c.491+24011C>A (n.491+24011C>A) c.642C>A (n.642C>A) c.647+6073C>A (n.647+6073C>A) c.708C>A (n.708C>A) c.104C>A (p.Thr35Asn) c.-104+24876G>T (n.-104+24876G>T) c.-50C>A (n.-50C>A) c.803C>A (p.Thr268Asn) n.896C>A | |
1 | g.67206970C>G | CA340728258 | C1orf141,IL23R | c.589C>G (n.589C>G) c.552C>G (n.552C>G) c.713C>G (p.Thr238Ser) c.492-12604C>G (n.492-12604C>G) c.652+6073C>G (n.652+6073C>G) c.491+24011C>G (n.491+24011C>G) c.642C>G (n.642C>G) c.647+6073C>G (n.647+6073C>G) c.708C>G (n.708C>G) c.104C>G (p.Thr35Ser) c.-104+24876G>C (n.-104+24876G>C) c.-50C>G (n.-50C>G) c.803C>G (p.Thr268Ser) n.896C>G | |
1 | g.67206970C>T | CA340728260 | C1orf141,IL23R | c.589C>T (n.589C>T) c.552C>T (n.552C>T) c.713C>T (p.Thr238Ile) c.492-12604C>T (n.492-12604C>T) c.652+6073C>T (n.652+6073C>T) c.491+24011C>T (n.491+24011C>T) c.642C>T (n.642C>T) c.647+6073C>T (n.647+6073C>T) c.708C>T (n.708C>T) c.104C>T (p.Thr35Ile) c.-104+24876G>A (n.-104+24876G>A) c.-50C>T (n.-50C>T) c.803C>T (p.Thr268Ile) n.896C>T | gnomAD v4 |
1 | g.67206971C>A | CA418269563 | C1orf141,IL23R | c.590C>A (n.590C>A) c.553C>A (n.553C>A) c.714C>A (p.Thr238=) c.492-12603C>A (n.492-12603C>A) c.652+6074C>A (n.652+6074C>A) c.491+24012C>A (n.491+24012C>A) c.643C>A (n.643C>A) c.647+6074C>A (n.647+6074C>A) c.709C>A (n.709C>A) c.105C>A (p.Thr35=) c.-104+24875G>T (n.-104+24875G>T) c.-49C>A (n.-49C>A) c.804C>A (p.Thr268=) n.897C>A | |
1 | g.67206971C>G | CA418269564 | C1orf141,IL23R | c.590C>G (n.590C>G) c.553C>G (n.553C>G) c.714C>G (p.Thr238=) c.492-12603C>G (n.492-12603C>G) c.652+6074C>G (n.652+6074C>G) c.491+24012C>G (n.491+24012C>G) c.643C>G (n.643C>G) c.647+6074C>G (n.647+6074C>G) c.709C>G (n.709C>G) c.105C>G (p.Thr35=) c.-104+24875G>C (n.-104+24875G>C) c.-49C>G (n.-49C>G) c.804C>G (p.Thr268=) n.897C>G | |
1 | g.67206971C>T | CA418269565 | C1orf141,IL23R | c.590C>T (n.590C>T) c.553C>T (n.553C>T) c.714C>T (p.Thr238=) c.492-12603C>T (n.492-12603C>T) c.652+6074C>T (n.652+6074C>T) c.491+24012C>T (n.491+24012C>T) c.643C>T (n.643C>T) c.647+6074C>T (n.647+6074C>T) c.709C>T (n.709C>T) c.105C>T (p.Thr35=) c.-104+24875G>A (n.-104+24875G>A) c.-49C>T (n.-49C>T) c.804C>T (p.Thr268=) n.897C>T | |
1 | g.67206972A= | CA1173042449 | C1orf141,IL23R | c.591A= (n.591A=) c.554A= (n.554A=) c.715A= (p.Ile239=) c.492-12602A= (n.492-12602A=) c.652+6075A= (n.652+6075A=) c.491+24013A= (n.491+24013A=) c.644A= (n.644A=) c.647+6075A= (n.647+6075A=) c.710A= (n.710A=) c.106A= (p.Ile36=) c.-104+24874T= (n.-104+24874T=) c.-48A= (n.-48A=) c.805A= (p.Ile269=) n.898A= | |
1 | g.67206972A>C | CA340728262 | C1orf141,IL23R | c.591A>C (n.591A>C) c.554A>C (n.554A>C) c.715A>C (p.Ile239Leu) c.492-12602A>C (n.492-12602A>C) c.652+6075A>C (n.652+6075A>C) c.491+24013A>C (n.491+24013A>C) c.644A>C (n.644A>C) c.647+6075A>C (n.647+6075A>C) c.710A>C (n.710A>C) c.106A>C (p.Ile36Leu) c.-104+24874T>G (n.-104+24874T>G) c.-48A>C (n.-48A>C) c.805A>C (p.Ile269Leu) n.898A>C | ClinVar |
1 | g.67206972A>G | CA899801 | C1orf141,IL23R | c.591A>G (n.591A>G) c.554A>G (n.554A>G) c.715A>G (p.Ile239Val) c.492-12602A>G (n.492-12602A>G) c.652+6075A>G (n.652+6075A>G) c.491+24013A>G (n.491+24013A>G) c.644A>G (n.644A>G) c.647+6075A>G (n.647+6075A>G) c.710A>G (n.710A>G) c.106A>G (p.Ile36Val) c.-104+24874T>C (n.-104+24874T>C) c.-48A>G (n.-48A>G) c.805A>G (p.Ile269Val) n.898A>G | dbSNP ExAC gnomAD v2 |
1 | g.67206972A>T | CA340728264 | C1orf141,IL23R | c.591A>T (n.591A>T) c.554A>T (n.554A>T) c.715A>T (p.Ile239Leu) c.492-12602A>T (n.492-12602A>T) c.652+6075A>T (n.652+6075A>T) c.491+24013A>T (n.491+24013A>T) c.644A>T (n.644A>T) c.647+6075A>T (n.647+6075A>T) c.710A>T (n.710A>T) c.106A>T (p.Ile36Leu) c.-104+24874T>A (n.-104+24874T>A) c.-48A>T (n.-48A>T) c.805A>T (p.Ile269Leu) n.898A>T | |
1 | g.67206973T>A | CA340728269 | C1orf141,IL23R | c.592T>A (n.592T>A) c.555T>A (n.555T>A) c.716T>A (p.Ile239Lys) c.492-12601T>A (n.492-12601T>A) c.652+6076T>A (n.652+6076T>A) c.491+24014T>A (n.491+24014T>A) c.645T>A (n.645T>A) c.647+6076T>A (n.647+6076T>A) c.711T>A (n.711T>A) c.107T>A (p.Ile36Lys) c.-104+24873A>T (n.-104+24873A>T) c.-47T>A (n.-47T>A) c.806T>A (p.Ile269Lys) n.899T>A | |
1 | g.67206973T>C | CA340728266 | C1orf141,IL23R | c.592T>C (n.592T>C) c.555T>C (n.555T>C) c.716T>C (p.Ile239Thr) c.492-12601T>C (n.492-12601T>C) c.652+6076T>C (n.652+6076T>C) c.491+24014T>C (n.491+24014T>C) c.645T>C (n.645T>C) c.647+6076T>C (n.647+6076T>C) c.711T>C (n.711T>C) c.107T>C (p.Ile36Thr) c.-104+24873A>G (n.-104+24873A>G) c.-47T>C (n.-47T>C) c.806T>C (p.Ile269Thr) n.899T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206973T>G | CA340728268 | C1orf141,IL23R | c.592T>G (n.592T>G) c.555T>G (n.555T>G) c.716T>G (p.Ile239Arg) c.492-12601T>G (n.492-12601T>G) c.652+6076T>G (n.652+6076T>G) c.491+24014T>G (n.491+24014T>G) c.645T>G (n.645T>G) c.647+6076T>G (n.647+6076T>G) c.711T>G (n.711T>G) c.107T>G (p.Ile36Arg) c.-104+24873A>C (n.-104+24873A>C) c.-47T>G (n.-47T>G) c.806T>G (p.Ile269Arg) n.899T>G | |
1 | g.67206973T= | CA1173042450 | C1orf141,IL23R | c.592T= (n.592T=) c.555T= (n.555T=) c.716T= (p.Ile239=) c.492-12601T= (n.492-12601T=) c.652+6076T= (n.652+6076T=) c.491+24014T= (n.491+24014T=) c.645T= (n.645T=) c.647+6076T= (n.647+6076T=) c.711T= (n.711T=) c.107T= (p.Ile36=) c.-104+24873A= (n.-104+24873A=) c.-47T= (n.-47T=) c.806T= (p.Ile269=) n.899T= | |
1 | g.67206974A= | CA1173042451 | C1orf141,IL23R | c.593A= (n.593A=) c.556A= (n.556A=) c.717A= (p.Ile239=) c.492-12600A= (n.492-12600A=) c.652+6077A= (n.652+6077A=) c.491+24015A= (n.491+24015A=) c.646A= (n.646A=) c.647+6077A= (n.647+6077A=) c.712A= (n.712A=) c.108A= (p.Ile36=) c.-104+24872T= (n.-104+24872T=) c.-46A= (n.-46A=) c.807A= (p.Ile269=) n.900A= | |
1 | g.67206974A>C | CA418269566 | C1orf141,IL23R | c.593A>C (n.593A>C) c.556A>C (n.556A>C) c.717A>C (p.Ile239=) c.492-12600A>C (n.492-12600A>C) c.652+6077A>C (n.652+6077A>C) c.491+24015A>C (n.491+24015A>C) c.646A>C (n.646A>C) c.647+6077A>C (n.647+6077A>C) c.712A>C (n.712A>C) c.108A>C (p.Ile36=) c.-104+24872T>G (n.-104+24872T>G) c.-46A>C (n.-46A>C) c.807A>C (p.Ile269=) n.900A>C | |
1 | g.67206974A>G | CA340728271 | C1orf141,IL23R | c.593A>G (n.593A>G) c.556A>G (n.556A>G) c.717A>G (p.Ile239Met) c.492-12600A>G (n.492-12600A>G) c.652+6077A>G (n.652+6077A>G) c.491+24015A>G (n.491+24015A>G) c.646A>G (n.646A>G) c.647+6077A>G (n.647+6077A>G) c.712A>G (n.712A>G) c.108A>G (p.Ile36Met) c.-104+24872T>C (n.-104+24872T>C) c.-46A>G (n.-46A>G) c.807A>G (p.Ile269Met) n.900A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206974A>T | CA418269567 | C1orf141,IL23R | c.593A>T (n.593A>T) c.556A>T (n.556A>T) c.717A>T (p.Ile239=) c.492-12600A>T (n.492-12600A>T) c.652+6077A>T (n.652+6077A>T) c.491+24015A>T (n.491+24015A>T) c.646A>T (n.646A>T) c.647+6077A>T (n.647+6077A>T) c.712A>T (n.712A>T) c.108A>T (p.Ile36=) c.-104+24872T>A (n.-104+24872T>A) c.-46A>T (n.-46A>T) c.807A>T (p.Ile269=) n.900A>T | |
1 | g.67206974_67206978delinsAATTT | CA1173042452 | C1orf141,IL23R | c.593_597delinsAATTT (n.593_597delinsAATTT) c.556_560delinsAATTT (n.556_560delinsAATTT) c.717_721delinsAATTT (p.Ile239=) c.492-12600_492-12596delinsAATTT (n.492-12600_492-12596delinsAATTT) c.652+6077_652+6081delinsAATTT (n.652+6077_652+6081delinsAATTT) c.491+24015_491+24019delinsAATTT (n.491+24015_491+24019delinsAATTT) c.646_650delinsAATTT (n.646_650delinsAATTT) c.647+6077_647+6081delinsAATTT (n.647+6077_647+6081delinsAATTT) c.712_716delinsAATTT (n.712_716delinsAATTT) c.108_112delinsAATTT (p.Ile36=) c.-104+24868_-104+24872delinsAAATT (n.-104+24868_-104+24872delinsAAATT) c.-46_-42delinsAATTT (n.-46_-42delinsAATTT) c.807_811delinsAATTT (p.Ile269=) n.900_904delinsAATTT | |
1 | g.67206975A>C | CA340728279 | C1orf141,IL23R | c.594A>C (n.594A>C) c.557A>C (n.557A>C) c.718A>C (p.Ile240Leu) c.492-12599A>C (n.492-12599A>C) c.652+6078A>C (n.652+6078A>C) c.491+24016A>C (n.491+24016A>C) c.647A>C (n.647A>C) c.647+6078A>C (n.647+6078A>C) c.713A>C (n.713A>C) c.109A>C (p.Ile37Leu) c.-104+24871T>G (n.-104+24871T>G) c.-45A>C (n.-45A>C) c.808A>C (p.Ile270Leu) n.901A>C | |
1 | g.67206975A>G | CA340728274 | C1orf141,IL23R | c.594A>G (n.594A>G) c.557A>G (n.557A>G) c.718A>G (p.Ile240Val) c.492-12599A>G (n.492-12599A>G) c.652+6078A>G (n.652+6078A>G) c.491+24016A>G (n.491+24016A>G) c.647A>G (n.647A>G) c.647+6078A>G (n.647+6078A>G) c.713A>G (n.713A>G) c.109A>G (p.Ile37Val) c.-104+24871T>C (n.-104+24871T>C) c.-45A>G (n.-45A>G) c.808A>G (p.Ile270Val) n.901A>G | |
1 | g.67206975A>T | CA340728276 | C1orf141,IL23R | c.594A>T (n.594A>T) c.557A>T (n.557A>T) c.718A>T (p.Ile240Phe) c.492-12599A>T (n.492-12599A>T) c.652+6078A>T (n.652+6078A>T) c.491+24016A>T (n.491+24016A>T) c.647A>T (n.647A>T) c.647+6078A>T (n.647+6078A>T) c.713A>T (n.713A>T) c.109A>T (p.Ile37Phe) c.-104+24871T>A (n.-104+24871T>A) c.-45A>T (n.-45A>T) c.808A>T (p.Ile270Phe) n.901A>T | |
1 | g.67206975_67206976delinsAT | CA1173042453 | C1orf141,IL23R | c.594_595delinsAT (n.594_595delinsAT) c.557_558delinsAT (n.557_558delinsAT) c.718_719delinsAT (p.Ile240=) c.492-12599_492-12598delinsAT (n.492-12599_492-12598delinsAT) c.652+6078_652+6079delinsAT (n.652+6078_652+6079delinsAT) c.491+24016_491+24017delinsAT (n.491+24016_491+24017delinsAT) c.647_648delinsAT (n.647_648delinsAT) c.647+6078_647+6079delinsAT (n.647+6078_647+6079delinsAT) c.713_714delinsAT (n.713_714delinsAT) c.109_110delinsAT (p.Ile37=) c.-104+24870_-104+24871delinsAT (n.-104+24870_-104+24871delinsAT) c.-45_-44delinsAT (n.-45_-44delinsAT) c.808_809delinsAT (p.Ile270=) n.901_902delinsAT | |
1 | g.67206978_67206981del | CA899802 | C1orf141,IL23R | c.597_600del (n.597_600del) c.560_563del (n.560_563del) c.721_724del (p.Tyr241GlyfsTer14) c.492-12596_492-12593del (n.492-12596_492-12593del) c.652+6081_652+6084del (n.652+6081_652+6084del) c.491+24019_491+24022del (n.491+24019_491+24022del) c.650_653del (n.650_653del) c.647+6081_647+6084del (n.647+6081_647+6084del) c.716_719del (n.716_719del) c.112_115del (p.Tyr38GlyfsTer14) c.-104+24868_-104+24871del (n.-104+24868_-104+24871del) c.-42_-39del (n.-42_-39del) c.811_814del (p.Tyr271GlyfsTer14) n.904_907del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206976T>A | CA340728281 | C1orf141,IL23R | c.595T>A (n.595T>A) c.558T>A (n.558T>A) c.719T>A (p.Ile240Asn) c.492-12598T>A (n.492-12598T>A) c.652+6079T>A (n.652+6079T>A) c.491+24017T>A (n.491+24017T>A) c.648T>A (n.648T>A) c.647+6079T>A (n.647+6079T>A) c.714T>A (n.714T>A) c.110T>A (p.Ile37Asn) c.-104+24870A>T (n.-104+24870A>T) c.-44T>A (n.-44T>A) c.809T>A (p.Ile270Asn) n.902T>A | |
1 | g.67206976T>C | CA340728282 | C1orf141,IL23R | c.595T>C (n.595T>C) c.558T>C (n.558T>C) c.719T>C (p.Ile240Thr) c.492-12598T>C (n.492-12598T>C) c.652+6079T>C (n.652+6079T>C) c.491+24017T>C (n.491+24017T>C) c.648T>C (n.648T>C) c.647+6079T>C (n.647+6079T>C) c.714T>C (n.714T>C) c.110T>C (p.Ile37Thr) c.-104+24870A>G (n.-104+24870A>G) c.-44T>C (n.-44T>C) c.809T>C (p.Ile270Thr) n.902T>C | |
1 | g.67206976T>G | CA340728284 | C1orf141,IL23R | c.595T>G (n.595T>G) c.558T>G (n.558T>G) c.719T>G (p.Ile240Ser) c.492-12598T>G (n.492-12598T>G) c.652+6079T>G (n.652+6079T>G) c.491+24017T>G (n.491+24017T>G) c.648T>G (n.648T>G) c.647+6079T>G (n.647+6079T>G) c.714T>G (n.714T>G) c.110T>G (p.Ile37Ser) c.-104+24870A>C (n.-104+24870A>C) c.-44T>G (n.-44T>G) c.809T>G (p.Ile270Ser) n.902T>G | |
1 | g.67206978del | CA1173042454 | C1orf141,IL23R | c.597del (n.597del) c.560del (n.560del) c.721del (p.Tyr241IlefsTer15) c.492-12596del (n.492-12596del) c.652+6081del (n.652+6081del) c.491+24019del (n.491+24019del) c.650del (n.650del) c.647+6081del (n.647+6081del) c.716del (n.716del) c.112del (p.Tyr38IlefsTer15) c.-104+24870del (n.-104+24870del) c.-42del (n.-42del) c.811del (p.Tyr271IlefsTer15) n.904del | dbSNP gnomAD v4 |
1 | g.67206977T>A | CA418269568 | C1orf141,IL23R | c.596T>A (n.596T>A) c.559T>A (n.559T>A) c.720T>A (p.Ile240=) c.492-12597T>A (n.492-12597T>A) c.652+6080T>A (n.652+6080T>A) c.491+24018T>A (n.491+24018T>A) c.649T>A (n.649T>A) c.647+6080T>A (n.647+6080T>A) c.715T>A (n.715T>A) c.111T>A (p.Ile37=) c.-104+24869A>T (n.-104+24869A>T) c.-43T>A (n.-43T>A) c.810T>A (p.Ile270=) n.903T>A | |
1 | g.67206977T>C | CA23532680 | C1orf141,IL23R | c.596T>C (n.596T>C) c.559T>C (n.559T>C) c.720T>C (p.Ile240=) c.492-12597T>C (n.492-12597T>C) c.652+6080T>C (n.652+6080T>C) c.491+24018T>C (n.491+24018T>C) c.649T>C (n.649T>C) c.647+6080T>C (n.647+6080T>C) c.715T>C (n.715T>C) c.111T>C (p.Ile37=) c.-104+24869A>G (n.-104+24869A>G) c.-43T>C (n.-43T>C) c.810T>C (p.Ile270=) n.903T>C | dbSNP |
1 | g.67206977T>G | CA340728286 | C1orf141,IL23R | c.596T>G (n.596T>G) c.559T>G (n.559T>G) c.720T>G (p.Ile240Met) c.492-12597T>G (n.492-12597T>G) c.652+6080T>G (n.652+6080T>G) c.491+24018T>G (n.491+24018T>G) c.649T>G (n.649T>G) c.647+6080T>G (n.647+6080T>G) c.715T>G (n.715T>G) c.111T>G (p.Ile37Met) c.-104+24869A>C (n.-104+24869A>C) c.-43T>G (n.-43T>G) c.810T>G (p.Ile270Met) n.903T>G | |
1 | g.67206977T= | CA1173042455 | C1orf141,IL23R | c.596T= (n.596T=) c.559T= (n.559T=) c.720T= (p.Ile240=) c.492-12597T= (n.492-12597T=) c.652+6080T= (n.652+6080T=) c.491+24018T= (n.491+24018T=) c.649T= (n.649T=) c.647+6080T= (n.647+6080T=) c.715T= (n.715T=) c.111T= (p.Ile37=) c.-104+24869A= (n.-104+24869A=) c.-43T= (n.-43T=) c.810T= (p.Ile270=) n.903T= | |
1 | g.67206978T>A | CA340728290 | C1orf141,IL23R | c.597T>A (n.597T>A) c.560T>A (n.560T>A) c.721T>A (p.Tyr241Asn) c.492-12596T>A (n.492-12596T>A) c.652+6081T>A (n.652+6081T>A) c.491+24019T>A (n.491+24019T>A) c.650T>A (n.650T>A) c.647+6081T>A (n.647+6081T>A) c.716T>A (n.716T>A) c.112T>A (p.Tyr38Asn) c.-104+24868A>T (n.-104+24868A>T) c.-42T>A (n.-42T>A) c.811T>A (p.Tyr271Asn) n.904T>A | |
1 | g.67206978T>C | CA340728292 | C1orf141,IL23R | c.597T>C (n.597T>C) c.560T>C (n.560T>C) c.721T>C (p.Tyr241His) c.492-12596T>C (n.492-12596T>C) c.652+6081T>C (n.652+6081T>C) c.491+24019T>C (n.491+24019T>C) c.650T>C (n.650T>C) c.647+6081T>C (n.647+6081T>C) c.716T>C (n.716T>C) c.112T>C (p.Tyr38His) c.-104+24868A>G (n.-104+24868A>G) c.-42T>C (n.-42T>C) c.811T>C (p.Tyr271His) n.904T>C | ClinVar dbSNP gnomAD v4 |
1 | g.67206978T>G | CA340728293 | C1orf141,IL23R | c.597T>G (n.597T>G) c.560T>G (n.560T>G) c.721T>G (p.Tyr241Asp) c.492-12596T>G (n.492-12596T>G) c.652+6081T>G (n.652+6081T>G) c.491+24019T>G (n.491+24019T>G) c.650T>G (n.650T>G) c.647+6081T>G (n.647+6081T>G) c.716T>G (n.716T>G) c.112T>G (p.Tyr38Asp) c.-104+24868A>C (n.-104+24868A>C) c.-42T>G (n.-42T>G) c.811T>G (p.Tyr271Asp) n.904T>G | |
1 | g.67206979A>C | CA340728295 | C1orf141,IL23R | c.598A>C (n.598A>C) c.561A>C (n.561A>C) c.722A>C (p.Tyr241Ser) c.492-12595A>C (n.492-12595A>C) c.652+6082A>C (n.652+6082A>C) c.491+24020A>C (n.491+24020A>C) c.651A>C (n.651A>C) c.647+6082A>C (n.647+6082A>C) c.717A>C (n.717A>C) c.113A>C (p.Tyr38Ser) c.-104+24867T>G (n.-104+24867T>G) c.-41A>C (n.-41A>C) c.812A>C (p.Tyr271Ser) n.905A>C | |
1 | g.67206979A>G | CA340728297 | C1orf141,IL23R | c.598A>G (n.598A>G) c.561A>G (n.561A>G) c.722A>G (p.Tyr241Cys) c.492-12595A>G (n.492-12595A>G) c.652+6082A>G (n.652+6082A>G) c.491+24020A>G (n.491+24020A>G) c.651A>G (n.651A>G) c.647+6082A>G (n.647+6082A>G) c.717A>G (n.717A>G) c.113A>G (p.Tyr38Cys) c.-104+24867T>C (n.-104+24867T>C) c.-41A>G (n.-41A>G) c.812A>G (p.Tyr271Cys) n.905A>G | |
1 | g.67206979A>T | CA340728298 | C1orf141,IL23R | c.598A>T (n.598A>T) c.561A>T (n.561A>T) c.722A>T (p.Tyr241Phe) c.492-12595A>T (n.492-12595A>T) c.652+6082A>T (n.652+6082A>T) c.491+24020A>T (n.491+24020A>T) c.651A>T (n.651A>T) c.647+6082A>T (n.647+6082A>T) c.717A>T (n.717A>T) c.113A>T (p.Tyr38Phe) c.-104+24867T>A (n.-104+24867T>A) c.-41A>T (n.-41A>T) c.812A>T (p.Tyr271Phe) n.905A>T | |
1 | g.67206980T>A | CA340728302 | C1orf141,IL23R | c.599T>A (n.599T>A) c.562T>A (n.562T>A) c.723T>A (p.Tyr241Ter) c.492-12594T>A (n.492-12594T>A) c.652+6083T>A (n.652+6083T>A) c.491+24021T>A (n.491+24021T>A) c.652T>A (n.652T>A) c.647+6083T>A (n.647+6083T>A) c.718T>A (n.718T>A) c.114T>A (p.Tyr38Ter) c.-104+24866A>T (n.-104+24866A>T) c.-40T>A (n.-40T>A) c.813T>A (p.Tyr271Ter) n.906T>A | |
1 | g.67206980T>C | CA899803 | C1orf141,IL23R | c.599T>C (n.599T>C) c.562T>C (n.562T>C) c.723T>C (p.Tyr241=) c.492-12594T>C (n.492-12594T>C) c.652+6083T>C (n.652+6083T>C) c.491+24021T>C (n.491+24021T>C) c.652T>C (n.652T>C) c.647+6083T>C (n.647+6083T>C) c.718T>C (n.718T>C) c.114T>C (p.Tyr38=) c.-104+24866A>G (n.-104+24866A>G) c.-40T>C (n.-40T>C) c.813T>C (p.Tyr271=) n.906T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206980T>G | CA340728301 | C1orf141,IL23R | c.599T>G (n.599T>G) c.562T>G (n.562T>G) c.723T>G (p.Tyr241Ter) c.492-12594T>G (n.492-12594T>G) c.652+6083T>G (n.652+6083T>G) c.491+24021T>G (n.491+24021T>G) c.652T>G (n.652T>G) c.647+6083T>G (n.647+6083T>G) c.718T>G (n.718T>G) c.114T>G (p.Tyr38Ter) c.-104+24866A>C (n.-104+24866A>C) c.-40T>G (n.-40T>G) c.813T>G (p.Tyr271Ter) n.906T>G | |
1 | g.67206980T= | CA1141307548 | C1orf141,IL23R | c.599T= (n.599T=) c.562T= (n.562T=) c.723T= (p.Tyr241=) c.492-12594T= (n.492-12594T=) c.652+6083T= (n.652+6083T=) c.491+24021T= (n.491+24021T=) c.652T= (n.652T=) c.647+6083T= (n.647+6083T=) c.718T= (n.718T=) c.114T= (p.Tyr38=) c.-104+24866A= (n.-104+24866A=) c.-40T= (n.-40T=) c.813T= (p.Tyr271=) n.906T= | |
1 | g.67206981T>A | CA340728304 | C1orf141,IL23R | c.600T>A (n.600T>A) c.563T>A (n.563T>A) c.724T>A (p.Trp242Arg) c.492-12593T>A (n.492-12593T>A) c.652+6084T>A (n.652+6084T>A) c.491+24022T>A (n.491+24022T>A) c.653T>A (n.653T>A) c.647+6084T>A (n.647+6084T>A) c.719T>A (n.719T>A) c.115T>A (p.Trp39Arg) c.-104+24865A>T (n.-104+24865A>T) c.-39T>A (n.-39T>A) c.814T>A (p.Trp272Arg) n.907T>A | |
1 | g.67206981T>C | CA340728305 | C1orf141,IL23R | c.600T>C (n.600T>C) c.563T>C (n.563T>C) c.724T>C (p.Trp242Arg) c.492-12593T>C (n.492-12593T>C) c.652+6084T>C (n.652+6084T>C) c.491+24022T>C (n.491+24022T>C) c.653T>C (n.653T>C) c.647+6084T>C (n.647+6084T>C) c.719T>C (n.719T>C) c.115T>C (p.Trp39Arg) c.-104+24865A>G (n.-104+24865A>G) c.-39T>C (n.-39T>C) c.814T>C (p.Trp272Arg) n.907T>C | COSMIC |
1 | g.67206981T>G | CA340728307 | C1orf141,IL23R | c.600T>G (n.600T>G) c.563T>G (n.563T>G) c.724T>G (p.Trp242Gly) c.492-12593T>G (n.492-12593T>G) c.652+6084T>G (n.652+6084T>G) c.491+24022T>G (n.491+24022T>G) c.653T>G (n.653T>G) c.647+6084T>G (n.647+6084T>G) c.719T>G (n.719T>G) c.115T>G (p.Trp39Gly) c.-104+24865A>C (n.-104+24865A>C) c.-39T>G (n.-39T>G) c.814T>G (p.Trp272Gly) n.907T>G | |
1 | g.67206982G>A | CA340728308 | C1orf141,IL23R | c.601G>A (n.601G>A) c.564G>A (n.564G>A) c.725G>A (p.Trp242Ter) c.492-12592G>A (n.492-12592G>A) c.652+6085G>A (n.652+6085G>A) c.491+24023G>A (n.491+24023G>A) c.654G>A (n.654G>A) c.647+6085G>A (n.647+6085G>A) c.720G>A (n.720G>A) c.116G>A (p.Trp39Ter) c.-104+24864C>T (n.-104+24864C>T) c.-38G>A (n.-38G>A) c.815G>A (p.Trp272Ter) n.908G>A | |
1 | g.67206982G>C | CA340728310 | C1orf141,IL23R | c.601G>C (n.601G>C) c.564G>C (n.564G>C) c.725G>C (p.Trp242Ser) c.492-12592G>C (n.492-12592G>C) c.652+6085G>C (n.652+6085G>C) c.491+24023G>C (n.491+24023G>C) c.654G>C (n.654G>C) c.647+6085G>C (n.647+6085G>C) c.720G>C (n.720G>C) c.116G>C (p.Trp39Ser) c.-104+24864C>G (n.-104+24864C>G) c.-38G>C (n.-38G>C) c.815G>C (p.Trp272Ser) n.908G>C | |
1 | g.67206982G>T | CA340728311 | C1orf141,IL23R | c.601G>T (n.601G>T) c.564G>T (n.564G>T) c.725G>T (p.Trp242Leu) c.492-12592G>T (n.492-12592G>T) c.652+6085G>T (n.652+6085G>T) c.491+24023G>T (n.491+24023G>T) c.654G>T (n.654G>T) c.647+6085G>T (n.647+6085G>T) c.720G>T (n.720G>T) c.116G>T (p.Trp39Leu) c.-104+24864C>A (n.-104+24864C>A) c.-38G>T (n.-38G>T) c.815G>T (p.Trp272Leu) n.908G>T | |
1 | g.67206983G>A | CA340728312 | C1orf141,IL23R | c.602G>A (n.602G>A) c.565G>A (n.565G>A) c.726G>A (p.Trp242Ter) c.492-12591G>A (n.492-12591G>A) c.652+6086G>A (n.652+6086G>A) c.491+24024G>A (n.491+24024G>A) c.655G>A (n.655G>A) c.647+6086G>A (n.647+6086G>A) c.721G>A (n.721G>A) c.117G>A (p.Trp39Ter) c.-104+24863C>T (n.-104+24863C>T) c.-37G>A (n.-37G>A) c.816G>A (p.Trp272Ter) n.909G>A | gnomAD v4 COSMIC |
1 | g.67206983G>C | CA340728314 | C1orf141,IL23R | c.602G>C (n.602G>C) c.565G>C (n.565G>C) c.726G>C (p.Trp242Cys) c.492-12591G>C (n.492-12591G>C) c.652+6086G>C (n.652+6086G>C) c.491+24024G>C (n.491+24024G>C) c.655G>C (n.655G>C) c.647+6086G>C (n.647+6086G>C) c.721G>C (n.721G>C) c.117G>C (p.Trp39Cys) c.-104+24863C>G (n.-104+24863C>G) c.-37G>C (n.-37G>C) c.816G>C (p.Trp272Cys) n.909G>C | |
1 | g.67206983G= | CA1143699972 | C1orf141,IL23R | c.602G= (n.602G=) c.565G= (n.565G=) c.726G= (p.Trp242=) c.492-12591G= (n.492-12591G=) c.652+6086G= (n.652+6086G=) c.491+24024G= (n.491+24024G=) c.655G= (n.655G=) c.647+6086G= (n.647+6086G=) c.721G= (n.721G=) c.117G= (p.Trp39=) c.-104+24863C= (n.-104+24863C=) c.-37G= (n.-37G=) c.816G= (p.Trp272=) n.909G= | |
1 | g.67206983G>T | CA899804 | C1orf141,IL23R | c.602G>T (n.602G>T) c.565G>T (n.565G>T) c.726G>T (p.Trp242Cys) c.492-12591G>T (n.492-12591G>T) c.652+6086G>T (n.652+6086G>T) c.491+24024G>T (n.491+24024G>T) c.655G>T (n.655G>T) c.647+6086G>T (n.647+6086G>T) c.721G>T (n.721G>T) c.117G>T (p.Trp39Cys) c.-104+24863C>A (n.-104+24863C>A) c.-37G>T (n.-37G>T) c.816G>T (p.Trp272Cys) n.909G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.67206984G>A | CA340728317 | C1orf141,IL23R | c.603G>A (n.603G>A) c.566G>A (n.566G>A) c.727G>A (p.Asp243Asn) c.492-12590G>A (n.492-12590G>A) c.652+6087G>A (n.652+6087G>A) c.491+24025G>A (n.491+24025G>A) c.656G>A (n.656G>A) c.647+6087G>A (n.647+6087G>A) c.722G>A (n.722G>A) c.118G>A (p.Asp40Asn) c.-104+24862C>T (n.-104+24862C>T) c.-36G>A (n.-36G>A) c.817G>A (p.Asp273Asn) n.910G>A | ClinVar dbSNP COSMIC |
1 | g.67206984G>C | CA340728320 | C1orf141,IL23R | c.603G>C (n.603G>C) c.566G>C (n.566G>C) c.727G>C (p.Asp243His) c.492-12590G>C (n.492-12590G>C) c.652+6087G>C (n.652+6087G>C) c.491+24025G>C (n.491+24025G>C) c.656G>C (n.656G>C) c.647+6087G>C (n.647+6087G>C) c.722G>C (n.722G>C) c.118G>C (p.Asp40His) c.-104+24862C>G (n.-104+24862C>G) c.-36G>C (n.-36G>C) c.817G>C (p.Asp273His) n.910G>C | |
1 | g.67206984G= | CA1173042456 | C1orf141,IL23R | c.603G= (n.603G=) c.566G= (n.566G=) c.727G= (p.Asp243=) c.492-12590G= (n.492-12590G=) c.652+6087G= (n.652+6087G=) c.491+24025G= (n.491+24025G=) c.656G= (n.656G=) c.647+6087G= (n.647+6087G=) c.722G= (n.722G=) c.118G= (p.Asp40=) c.-104+24862C= (n.-104+24862C=) c.-36G= (n.-36G=) c.817G= (p.Asp273=) n.910G= | |
1 | g.67206984G>T | CA340728322 | C1orf141,IL23R | c.603G>T (n.603G>T) c.566G>T (n.566G>T) c.727G>T (p.Asp243Tyr) c.492-12590G>T (n.492-12590G>T) c.652+6087G>T (n.652+6087G>T) c.491+24025G>T (n.491+24025G>T) c.656G>T (n.656G>T) c.647+6087G>T (n.647+6087G>T) c.722G>T (n.722G>T) c.118G>T (p.Asp40Tyr) c.-104+24862C>A (n.-104+24862C>A) c.-36G>T (n.-36G>T) c.817G>T (p.Asp273Tyr) n.910G>T | |
1 | g.67206985A>C | CA340728324 | C1orf141,IL23R | c.604A>C (n.604A>C) c.567A>C (n.567A>C) c.728A>C (p.Asp243Ala) c.492-12589A>C (n.492-12589A>C) c.652+6088A>C (n.652+6088A>C) c.491+24026A>C (n.491+24026A>C) c.657A>C (n.657A>C) c.647+6088A>C (n.647+6088A>C) c.723A>C (n.723A>C) c.119A>C (p.Asp40Ala) c.-104+24861T>G (n.-104+24861T>G) c.-35A>C (n.-35A>C) c.818A>C (p.Asp273Ala) n.911A>C | |
1 | g.67206985A>G | CA340728328 | C1orf141,IL23R | c.604A>G (n.604A>G) c.567A>G (n.567A>G) c.728A>G (p.Asp243Gly) c.492-12589A>G (n.492-12589A>G) c.652+6088A>G (n.652+6088A>G) c.491+24026A>G (n.491+24026A>G) c.657A>G (n.657A>G) c.647+6088A>G (n.647+6088A>G) c.723A>G (n.723A>G) c.119A>G (p.Asp40Gly) c.-104+24861T>C (n.-104+24861T>C) c.-35A>G (n.-35A>G) c.818A>G (p.Asp273Gly) n.911A>G | gnomAD v4 |
1 | g.67206985A>T | CA340728326 | C1orf141,IL23R | c.604A>T (n.604A>T) c.567A>T (n.567A>T) c.728A>T (p.Asp243Val) c.492-12589A>T (n.492-12589A>T) c.652+6088A>T (n.652+6088A>T) c.491+24026A>T (n.491+24026A>T) c.657A>T (n.657A>T) c.647+6088A>T (n.647+6088A>T) c.723A>T (n.723A>T) c.119A>T (p.Asp40Val) c.-104+24861T>A (n.-104+24861T>A) c.-35A>T (n.-35A>T) c.818A>T (p.Asp273Val) n.911A>T | |
1 | g.67206986T>A | CA340728330 | C1orf141,IL23R | c.605T>A (n.605T>A) c.568T>A (n.568T>A) c.729T>A (p.Asp243Glu) c.492-12588T>A (n.492-12588T>A) c.652+6089T>A (n.652+6089T>A) c.491+24027T>A (n.491+24027T>A) c.658T>A (n.658T>A) c.647+6089T>A (n.647+6089T>A) c.724T>A (n.724T>A) c.120T>A (p.Asp40Glu) c.-104+24860A>T (n.-104+24860A>T) c.-34T>A (n.-34T>A) c.819T>A (p.Asp273Glu) n.912T>A | |
1 | g.67206986T>C | CA899805 | C1orf141,IL23R | c.605T>C (n.605T>C) c.568T>C (n.568T>C) c.729T>C (p.Asp243=) c.492-12588T>C (n.492-12588T>C) c.652+6089T>C (n.652+6089T>C) c.491+24027T>C (n.491+24027T>C) c.658T>C (n.658T>C) c.647+6089T>C (n.647+6089T>C) c.724T>C (n.724T>C) c.120T>C (p.Asp40=) c.-104+24860A>G (n.-104+24860A>G) c.-34T>C (n.-34T>C) c.819T>C (p.Asp273=) n.912T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.67206986T>G | CA340728332 | C1orf141,IL23R | c.605T>G (n.605T>G) c.568T>G (n.568T>G) c.729T>G (p.Asp243Glu) c.492-12588T>G (n.492-12588T>G) c.652+6089T>G (n.652+6089T>G) c.491+24027T>G (n.491+24027T>G) c.658T>G (n.658T>G) c.647+6089T>G (n.647+6089T>G) c.724T>G (n.724T>G) c.120T>G (p.Asp40Glu) c.-104+24860A>C (n.-104+24860A>C) c.-34T>G (n.-34T>G) c.819T>G (p.Asp273Glu) n.912T>G | |
1 | g.67206986T= | CA1173042457 | C1orf141,IL23R | c.605T= (n.605T=) c.568T= (n.568T=) c.729T= (p.Asp243=) c.492-12588T= (n.492-12588T=) c.652+6089T= (n.652+6089T=) c.491+24027T= (n.491+24027T=) c.658T= (n.658T=) c.647+6089T= (n.647+6089T=) c.724T= (n.724T=) c.120T= (p.Asp40=) c.-104+24860A= (n.-104+24860A=) c.-34T= (n.-34T=) c.819T= (p.Asp273=) n.912T= | |
1 | g.67206987A>C | CA340728334 | C1orf141,IL23R | c.606A>C (n.606A>C) c.569A>C (n.569A>C) c.730A>C (p.Ser244Arg) c.492-12587A>C (n.492-12587A>C) c.652+6090A>C (n.652+6090A>C) c.491+24028A>C (n.491+24028A>C) c.659A>C (n.659A>C) c.647+6090A>C (n.647+6090A>C) c.725A>C (n.725A>C) c.121A>C (p.Ser41Arg) c.-104+24859T>G (n.-104+24859T>G) c.-33A>C (n.-33A>C) c.820A>C (p.Ser274Arg) n.913A>C | |
1 | g.67206987A>G | CA340728335 | C1orf141,IL23R | c.606A>G (n.606A>G) c.569A>G (n.569A>G) c.730A>G (p.Ser244Gly) c.492-12587A>G (n.492-12587A>G) c.652+6090A>G (n.652+6090A>G) c.491+24028A>G (n.491+24028A>G) c.659A>G (n.659A>G) c.647+6090A>G (n.647+6090A>G) c.725A>G (n.725A>G) c.121A>G (p.Ser41Gly) c.-104+24859T>C (n.-104+24859T>C) c.-33A>G (n.-33A>G) c.820A>G (p.Ser274Gly) n.913A>G | |
1 | g.67206987A>T | CA340728336 | C1orf141,IL23R | c.606A>T (n.606A>T) c.569A>T (n.569A>T) c.730A>T (p.Ser244Cys) c.492-12587A>T (n.492-12587A>T) c.652+6090A>T (n.652+6090A>T) c.491+24028A>T (n.491+24028A>T) c.659A>T (n.659A>T) c.647+6090A>T (n.647+6090A>T) c.725A>T (n.725A>T) c.121A>T (p.Ser41Cys) c.-104+24859T>A (n.-104+24859T>A) c.-33A>T (n.-33A>T) c.820A>T (p.Ser274Cys) n.913A>T | |
1 | g.67206988G>A | CA340728338 | C1orf141,IL23R | c.607G>A (n.607G>A) c.570G>A (n.570G>A) c.731G>A (p.Ser244Asn) c.492-12586G>A (n.492-12586G>A) c.652+6091G>A (n.652+6091G>A) c.491+24029G>A (n.491+24029G>A) c.660G>A (n.660G>A) c.647+6091G>A (n.647+6091G>A) c.726G>A (n.726G>A) c.122G>A (p.Ser41Asn) c.-104+24858C>T (n.-104+24858C>T) c.-32G>A (n.-32G>A) c.821G>A (p.Ser274Asn) n.914G>A | |
1 | g.67206988G>C | CA340728339 | C1orf141,IL23R | c.607G>C (n.607G>C) c.570G>C (n.570G>C) c.731G>C (p.Ser244Thr) c.492-12586G>C (n.492-12586G>C) c.652+6091G>C (n.652+6091G>C) c.491+24029G>C (n.491+24029G>C) c.660G>C (n.660G>C) c.647+6091G>C (n.647+6091G>C) c.726G>C (n.726G>C) c.122G>C (p.Ser41Thr) c.-104+24858C>G (n.-104+24858C>G) c.-32G>C (n.-32G>C) c.821G>C (p.Ser274Thr) n.914G>C | |
1 | g.67206988G>T | CA340728340 | C1orf141,IL23R | c.607G>T (n.607G>T) c.570G>T (n.570G>T) c.731G>T (p.Ser244Ile) c.492-12586G>T (n.492-12586G>T) c.652+6091G>T (n.652+6091G>T) c.491+24029G>T (n.491+24029G>T) c.660G>T (n.660G>T) c.647+6091G>T (n.647+6091G>T) c.726G>T (n.726G>T) c.122G>T (p.Ser41Ile) c.-104+24858C>A (n.-104+24858C>A) c.-32G>T (n.-32G>T) c.821G>T (p.Ser274Ile) n.914G>T | |
1 | g.67206989T>A | CA340728342 | C1orf141,IL23R | c.608T>A (n.608T>A) c.571T>A (n.571T>A) c.732T>A (p.Ser244Arg) c.492-12585T>A (n.492-12585T>A) c.652+6092T>A (n.652+6092T>A) c.491+24030T>A (n.491+24030T>A) c.661T>A (n.661T>A) c.647+6092T>A (n.647+6092T>A) c.727T>A (n.727T>A) c.123T>A (p.Ser41Arg) c.-104+24857A>T (n.-104+24857A>T) c.-31T>A (n.-31T>A) c.822T>A (p.Ser274Arg) n.915T>A | |
1 | g.67206989T>C | CA899806 | C1orf141,IL23R | c.608T>C (n.608T>C) c.571T>C (n.571T>C) c.732T>C (p.Ser244=) c.492-12585T>C (n.492-12585T>C) c.652+6092T>C (n.652+6092T>C) c.491+24030T>C (n.491+24030T>C) c.661T>C (n.661T>C) c.647+6092T>C (n.647+6092T>C) c.727T>C (n.727T>C) c.123T>C (p.Ser41=) c.-104+24857A>G (n.-104+24857A>G) c.-31T>C (n.-31T>C) c.822T>C (p.Ser274=) n.915T>C | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.67206989T>G | CA340728344 | C1orf141,IL23R | c.608T>G (n.608T>G) c.571T>G (n.571T>G) c.732T>G (p.Ser244Arg) c.492-12585T>G (n.492-12585T>G) c.652+6092T>G (n.652+6092T>G) c.491+24030T>G (n.491+24030T>G) c.661T>G (n.661T>G) c.647+6092T>G (n.647+6092T>G) c.727T>G (n.727T>G) c.123T>G (p.Ser41Arg) c.-104+24857A>C (n.-104+24857A>C) c.-31T>G (n.-31T>G) c.822T>G (p.Ser274Arg) n.915T>G | |
1 | g.67206989T= | CA1148347955 | C1orf141,IL23R | c.608T= (n.608T=) c.571T= (n.571T=) c.732T= (p.Ser244=) c.492-12585T= (n.492-12585T=) c.652+6092T= (n.652+6092T=) c.491+24030T= (n.491+24030T=) c.661T= (n.661T=) c.647+6092T= (n.647+6092T=) c.727T= (n.727T=) c.123T= (p.Ser41=) c.-104+24857A= (n.-104+24857A=) c.-31T= (n.-31T=) c.822T= (p.Ser274=) n.915T= | |
1 | g.67206990C>A | CA340728349 | C1orf141,IL23R | c.609C>A (n.609C>A) c.572C>A (n.572C>A) c.733C>A (p.Gln245Lys) c.492-12584C>A (n.492-12584C>A) c.652+6093C>A (n.652+6093C>A) c.491+24031C>A (n.491+24031C>A) c.662C>A (n.662C>A) c.647+6093C>A (n.647+6093C>A) c.728C>A (n.728C>A) c.124C>A (p.Gln42Lys) c.-104+24856G>T (n.-104+24856G>T) c.-30C>A (n.-30C>A) c.823C>A (p.Gln275Lys) n.916C>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.67206990C= | CA1173042458 | C1orf141,IL23R | c.609C= (n.609C=) c.572C= (n.572C=) c.733C= (p.Gln245=) c.492-12584C= (n.492-12584C=) c.652+6093C= (n.652+6093C=) c.491+24031C= (n.491+24031C=) c.662C= (n.662C=) c.647+6093C= (n.647+6093C=) c.728C= (n.728C=) c.124C= (p.Gln42=) c.-104+24856G= (n.-104+24856G=) c.-30C= (n.-30C=) c.823C= (p.Gln275=) n.916C= | |
1 | g.67206990C>G | CA340728346 | C1orf141,IL23R | c.609C>G (n.609C>G) c.572C>G (n.572C>G) c.733C>G (p.Gln245Glu) c.492-12584C>G (n.492-12584C>G) c.652+6093C>G (n.652+6093C>G) c.491+24031C>G (n.491+24031C>G) c.662C>G (n.662C>G) c.647+6093C>G (n.647+6093C>G) c.728C>G (n.728C>G) c.124C>G (p.Gln42Glu) c.-104+24856G>C (n.-104+24856G>C) c.-30C>G (n.-30C>G) c.823C>G (p.Gln275Glu) n.916C>G | |
1 | g.67206990C>T | CA340728347 | C1orf141,IL23R | c.609C>T (n.609C>T) c.572C>T (n.572C>T) c.733C>T (p.Gln245Ter) c.492-12584C>T (n.492-12584C>T) c.652+6093C>T (n.652+6093C>T) c.491+24031C>T (n.491+24031C>T) c.662C>T (n.662C>T) c.647+6093C>T (n.647+6093C>T) c.728C>T (n.728C>T) c.124C>T (p.Gln42Ter) c.-104+24856G>A (n.-104+24856G>A) c.-30C>T (n.-30C>T) c.823C>T (p.Gln275Ter) n.916C>T | |
1 | g.67206991A>C | CA340728351 | C1orf141,IL23R | c.610A>C (n.610A>C) c.573A>C (n.573A>C) c.734A>C (p.Gln245Pro) c.492-12583A>C (n.492-12583A>C) c.652+6094A>C (n.652+6094A>C) c.491+24032A>C (n.491+24032A>C) c.663A>C (n.663A>C) c.647+6094A>C (n.647+6094A>C) c.729A>C (n.729A>C) c.125A>C (p.Gln42Pro) c.-104+24855T>G (n.-104+24855T>G) c.-29A>C (n.-29A>C) c.824A>C (p.Gln275Pro) n.917A>C | |
1 | g.67206991A>G | CA340728353 | C1orf141,IL23R | c.610A>G (n.610A>G) c.573A>G (n.573A>G) c.734A>G (p.Gln245Arg) c.492-12583A>G (n.492-12583A>G) c.652+6094A>G (n.652+6094A>G) c.491+24032A>G (n.491+24032A>G) c.663A>G (n.663A>G) c.647+6094A>G (n.647+6094A>G) c.729A>G (n.729A>G) c.125A>G (p.Gln42Arg) c.-104+24855T>C (n.-104+24855T>C) c.-29A>G (n.-29A>G) c.824A>G (p.Gln275Arg) n.917A>G | |
1 | g.67206991A>T | CA340728354 | C1orf141,IL23R | c.610A>T (n.610A>T) c.573A>T (n.573A>T) c.734A>T (p.Gln245Leu) c.492-12583A>T (n.492-12583A>T) c.652+6094A>T (n.652+6094A>T) c.491+24032A>T (n.491+24032A>T) c.663A>T (n.663A>T) c.647+6094A>T (n.647+6094A>T) c.729A>T (n.729A>T) c.125A>T (p.Gln42Leu) c.-104+24855T>A (n.-104+24855T>A) c.-29A>T (n.-29A>T) c.824A>T (p.Gln275Leu) n.917A>T | |
1 | g.67206992A>C | CA340728356 | C1orf141,IL23R | c.611A>C (n.611A>C) c.574A>C (n.574A>C) c.735A>C (p.Gln245His) c.492-12582A>C (n.492-12582A>C) c.652+6095A>C (n.652+6095A>C) c.491+24033A>C (n.491+24033A>C) c.664A>C (n.664A>C) c.647+6095A>C (n.647+6095A>C) c.730A>C (n.730A>C) c.126A>C (p.Gln42His) c.-104+24854T>G (n.-104+24854T>G) c.-28A>C (n.-28A>C) c.825A>C (p.Gln275His) n.918A>C | |
1 | g.67206992A>G | CA418269569 | C1orf141,IL23R | c.611A>G (n.611A>G) c.574A>G (n.574A>G) c.735A>G (p.Gln245=) c.492-12582A>G (n.492-12582A>G) c.652+6095A>G (n.652+6095A>G) c.491+24033A>G (n.491+24033A>G) c.664A>G (n.664A>G) c.647+6095A>G (n.647+6095A>G) c.730A>G (n.730A>G) c.126A>G (p.Gln42=) c.-104+24854T>C (n.-104+24854T>C) c.-28A>G (n.-28A>G) c.825A>G (p.Gln275=) n.918A>G | |
1 | g.67206992A>T | CA340728357 | C1orf141,IL23R | c.611A>T (n.611A>T) c.574A>T (n.574A>T) c.735A>T (p.Gln245His) c.492-12582A>T (n.492-12582A>T) c.652+6095A>T (n.652+6095A>T) c.491+24033A>T (n.491+24033A>T) c.664A>T (n.664A>T) c.647+6095A>T (n.647+6095A>T) c.730A>T (n.730A>T) c.126A>T (p.Gln42His) c.-104+24854T>A (n.-104+24854T>A) c.-28A>T (n.-28A>T) c.825A>T (p.Gln275His) n.918A>T |