Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.209801184_209801204delinsAAAAAAAAAAAAAAAAAAAAA | CA1140595406 | IRF6 | c.174+36_174+56delinsTTTTTTTTTTTTTTTTTTTTT (n.174+36_174+56delinsTTTTTTTTTTTTTTTTTTTTT) c.-111-4652_-111-4632delinsTTTTTTTTTTTTTTTTTTTTT (n.-111-4652_-111-4632delinsTTTTTTTTTTTTTTTTTTTTT) | |
1 | g.209801204_209801205insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1011779947 | IRF6 | c.174+56_174+57insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.174+56_174+57insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-111-4632_-111-4631insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-111-4632_-111-4631insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
1 | g.209801204_209801205insAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1011779917 | IRF6 | c.174+56_174+57insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT (n.174+56_174+57insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT) c.-111-4632_-111-4631insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT (n.-111-4632_-111-4631insTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
1 | g.209801204_209801205insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1011779918 | IRF6 | c.174+56_174+57insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.174+56_174+57insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-111-4632_-111-4631insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-111-4632_-111-4631insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
1 | g.209801204_209801205insAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA1011779953 | IRF6 | c.174+56_174+57insTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.174+56_174+57insTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-111-4632_-111-4631insTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.-111-4632_-111-4631insTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
1 | g.209801204dup | CA36755970 | IRF6 | c.174+56dup (n.174+56dup) c.-111-4632dup (n.-111-4632dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.209801203_209801204dup | CA528646474 | IRF6 | c.174+55_174+56dup (n.174+55_174+56dup) c.-111-4633_-111-4632dup (n.-111-4633_-111-4632dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209801202_209801204dup | CA528646472 | IRF6 | c.174+54_174+56dup (n.174+54_174+56dup) c.-111-4634_-111-4632dup (n.-111-4634_-111-4632dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209801201_209801204dup | CA528646471 | IRF6 | c.174+53_174+56dup (n.174+53_174+56dup) c.-111-4635_-111-4632dup (n.-111-4635_-111-4632dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209801200_209801204dup | CA730861647 | IRF6 | c.174+52_174+56dup (n.174+52_174+56dup) c.-111-4636_-111-4632dup (n.-111-4636_-111-4632dup) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209801199_209801204dup | CA1011779924 | IRF6 | c.174+51_174+56dup (n.174+51_174+56dup) c.-111-4637_-111-4632dup (n.-111-4637_-111-4632dup) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209801198_209801204dup | CA1011779906 | IRF6 | c.174+50_174+56dup (n.174+50_174+56dup) c.-111-4638_-111-4632dup (n.-111-4638_-111-4632dup) | gnomAD v3 gnomAD v4 |
1 | g.209801197_209801204dup | CA1011779929 | IRF6 | c.174+49_174+56dup (n.174+49_174+56dup) c.-111-4639_-111-4632dup (n.-111-4639_-111-4632dup) | gnomAD v3 gnomAD v4 |
1 | g.209801196_209801204dup | CA1011779933 | IRF6 | c.174+48_174+56dup (n.174+48_174+56dup) c.-111-4640_-111-4632dup (n.-111-4640_-111-4632dup) | gnomAD v3 gnomAD v4 |
1 | g.209801195_209801204dup | CA1011779939 | IRF6 | c.174+47_174+56dup (n.174+47_174+56dup) c.-111-4641_-111-4632dup (n.-111-4641_-111-4632dup) | gnomAD v3 gnomAD v4 |
1 | g.209801194_209801204dup | CA2747565562 | IRF6 | c.174+46_174+56dup (n.174+46_174+56dup) c.-111-4642_-111-4632dup (n.-111-4642_-111-4632dup) | |
1 | g.209801193_209801204dup | CA2650336161 | IRF6 | c.174+45_174+56dup (n.174+45_174+56dup) c.-111-4643_-111-4632dup (n.-111-4643_-111-4632dup) | gnomAD v4 |
1 | g.209801192_209801204dup | CA2650336164 | IRF6 | c.174+44_174+56dup (n.174+44_174+56dup) c.-111-4644_-111-4632dup (n.-111-4644_-111-4632dup) | gnomAD v4 |
1 | g.209801185_209801204dup | CA1011779945 | IRF6 | c.174+37_174+56dup (n.174+37_174+56dup) c.-111-4651_-111-4632dup (n.-111-4651_-111-4632dup) | gnomAD v3 gnomAD v4 |
1 | g.209801184_209801204dup | CA2650336166 | IRF6 | c.174+36_174+56dup (n.174+36_174+56dup) c.-111-4652_-111-4632dup (n.-111-4652_-111-4632dup) | gnomAD v4 |
1 | g.209801204del | CA36755977 | IRF6 | c.174+56del (n.174+56del) c.-111-4632del (n.-111-4632del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209801203_209801204del | CA730861652 | IRF6 | c.174+55_174+56del (n.174+55_174+56del) c.-111-4633_-111-4632del (n.-111-4633_-111-4632del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209801202_209801204del | CA1011779910 | IRF6 | c.174+54_174+56del (n.174+54_174+56del) c.-111-4634_-111-4632del (n.-111-4634_-111-4632del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209801201_209801204del | CA1011779909 | IRF6 | c.174+53_174+56del (n.174+53_174+56del) c.-111-4635_-111-4632del (n.-111-4635_-111-4632del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209801200_209801204del | CA36755973 | IRF6 | c.174+52_174+56del (n.174+52_174+56del) c.-111-4636_-111-4632del (n.-111-4636_-111-4632del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209801199_209801204del | CA730861641 | IRF6 | c.174+51_174+56del (n.174+51_174+56del) c.-111-4637_-111-4632del (n.-111-4637_-111-4632del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209801198_209801204del | CA730861655 | IRF6 | c.174+50_174+56del (n.174+50_174+56del) c.-111-4638_-111-4632del (n.-111-4638_-111-4632del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209801197_209801204del | CA730861634 | IRF6 | c.174+49_174+56del (n.174+49_174+56del) c.-111-4639_-111-4632del (n.-111-4639_-111-4632del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209801196_209801204del | CA528646475 | IRF6 | c.174+48_174+56del (n.174+48_174+56del) c.-111-4640_-111-4632del (n.-111-4640_-111-4632del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.209801195_209801204del | CA2484369522 | IRF6 | c.174+47_174+56del (n.174+47_174+56del) c.-111-4641_-111-4632del (n.-111-4641_-111-4632del) | dbSNP gnomAD v4 |
1 | g.209801194_209801204del | CA1011779903 | IRF6 | c.174+46_174+56del (n.174+46_174+56del) c.-111-4642_-111-4632del (n.-111-4642_-111-4632del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209801193_209801204del | CA1011779900 | IRF6 | c.174+45_174+56del (n.174+45_174+56del) c.-111-4643_-111-4632del (n.-111-4643_-111-4632del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209801199_209801205delinsAAAAAAT | CA2484369532 | IRF6 | c.174+35_174+41delinsATTTTTT (n.174+35_174+41delinsATTTTTT) c.-111-4653_-111-4647delinsATTTTTT (n.-111-4653_-111-4647delinsATTTTTT) | |
1 | g.209801200_209801205del | CA730861688 | IRF6 | c.174+35_174+40del (n.174+35_174+40del) c.-111-4653_-111-4648del (n.-111-4653_-111-4648del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209801201_209801205del | CA2650336213 | IRF6 | c.174+35_174+39del (n.174+35_174+39del) c.-111-4653_-111-4649del (n.-111-4653_-111-4649del) | gnomAD v4 |
1 | g.209801201_209801202insTC | CA2650336214 | IRF6 | c.174+38_174+39insGA (n.174+38_174+39insGA) c.-111-4650_-111-4649insGA (n.-111-4650_-111-4649insGA) | gnomAD v4 |
1 | g.209801202A= | CA2484369533 | IRF6 | c.174+38T= (n.174+38T=) c.-111-4650T= (n.-111-4650T=) | |
1 | g.209801202A>G | CA528646486 | IRF6 | c.174+38T>C (n.174+38T>C) c.-111-4650T>C (n.-111-4650T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209801202_209801205del | CA2650336216 | IRF6 | c.174+35_174+38del (n.174+35_174+38del) c.-111-4653_-111-4650del (n.-111-4653_-111-4650del) | gnomAD v4 |
1 | g.209801205_209801212del | CA2650336218 | IRF6 | c.174+31_174+38del (n.174+31_174+38del) c.-111-4657_-111-4650del (n.-111-4657_-111-4650del) | gnomAD v4 |
1 | g.209801203_209801204insTA | CA2650336226 | IRF6 | c.174+37_174+38insAT (n.174+37_174+38insAT) c.-111-4651_-111-4650insAT (n.-111-4651_-111-4650insAT) | gnomAD v4 |
1 | g.209801204_209801205insATAA | CA2650336225 | IRF6 | c.174+37_174+38insATTT (n.174+37_174+38insATTT) c.-111-4651_-111-4650insATTT (n.-111-4651_-111-4650insATTT) | gnomAD v4 |
1 | g.209801203_209801205del | CA2650336224 | IRF6 | c.174+35_174+37del (n.174+35_174+37del) c.-111-4653_-111-4651del (n.-111-4653_-111-4651del) | gnomAD v4 |
1 | g.209801203_209801205delinsAAT | CA2484369534 | IRF6 | c.174+35_174+37delinsATT (n.174+35_174+37delinsATT) c.-111-4653_-111-4651delinsATT (n.-111-4653_-111-4651delinsATT) | |
1 | g.209801203_209801205dup | CA1011779964 | IRF6 | c.174+35_174+37dup (n.174+35_174+37dup) c.-111-4653_-111-4651dup (n.-111-4653_-111-4651dup) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.209801204A>T | CA2574125176 | IRF6 | c.174+36T>A (n.174+36T>A) c.-111-4652T>A (n.-111-4652T>A) | gnomAD v4 |
1 | g.209801204_209801205del | CA528646487 | IRF6 | c.174+35_174+36del (n.174+35_174+36del) c.-111-4653_-111-4652del (n.-111-4653_-111-4652del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.209801204_209801207delinsATCC | CA2484369535 | IRF6 | c.174+33_174+36delinsGGAT (n.174+33_174+36delinsGGAT) c.-111-4655_-111-4652delinsGGAT (n.-111-4655_-111-4652delinsGGAT) | |
1 | g.209801205_209801210del | CA2747565568 | IRF6 | c.174+31_174+36del (n.174+31_174+36del) c.-111-4657_-111-4652del (n.-111-4657_-111-4652del) | |
1 | g.209801204_209801205insAT | CA730861729 | IRF6 | c.174+35_174+36insAT (n.174+35_174+36insAT) c.-111-4653_-111-4652insAT (n.-111-4653_-111-4652insAT) |