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Search a deletion by involved exon

1) Select one exon involved in deletion

Or select a deletion from the list:

More information about origin of the mutations on Statistics page.

Search a duplication by involved exon

1) Select one exon involved in duplication

Or select a duplication from the list:

Search a missense mutation

Select a missense mutation from the list

Missense mutation in cDNA	Missense mutation in protein	Exon mutated
sub 137A>T	p.Asp46Val	3
sub 161T>G	p.Leu54Arg	3
sub 347T>C	p.Leu116Pro	5
sub 474C>G	p.Asn158Lys	6
sub 494A>T	p.Asp165Val	6
sub 596C>A	p.Ala199Glu	7
sub 653T>G	p.Val218Gly	8
sub 691T>G	p.Tyr231Asp	8
sub 1280T>C	p.Leu427Pro	11
sub 1351G>T	p.Asp451Tyr	12
sub 1724T>C	p.Leu575Pro	15
sub 1934A>G	p.Asp645Gly	16
sub 2378A>G	p.Asn793Ser	19
sub 2795T>C	p.Leu932Pro	21
sub 3952G>C	p.Asp1318His	29
sub 8219A>G	p.Asp2740Gly	56
sub 8390G>A	p.Arg2797Lys	56
sub 8668G>A	p.Glu2890Lys	58
sub 9560A>G	p.Asp3187Gly	65
sub 9619T>C	p.Cys3207Arg	66
sub 9938G>T	p.Cys3313Phe	68
sub 9955T>C	p.Cys3319Arg	68
sub 10003G>A	p.Asp3335Asn	69
sub 10102G>C	p.Asp3368His	70
sub 10103A>G	p.Asp3368Gly	70

Search a mutation by its involved domains

Click on a domain modified by a mutation

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