Albinismus: Das Tyrosinase-Gen in 78 Variationen - Universität zu ...

Ergebnisse 42
7566 4 c.1277T>A p.Met426Lys Z
7568 4 c.1214G>T p.Arg405Leu Z
7569 2 c.820-2delA Splice site mutation Z
4 c.1277T>A p.Met426Lys Z
7570 4 c.1246G>T p.Ala416Ser Z ∗3)
7575 4 c.1246G>T p.Ala416Ser Z ∗3)
7577 5 c.1467_1468insT p.Ala490fsX19 1
7578 4 c.1237G>T p.Glu413X Z
4 c.1246G>T p.Ala416Ser Z ∗3)
7582 4 c.1205G>A p.Arg402Gln 6
c.1209G>T p.Arg403Ser 5
7584 4 c.1210C>A p.His404Asn Z
7585 4 c.1271C>T p.Ser424Phe Z
7586 4 c.1246G>T p.Ala416Ser Z ∗3)
7591 3 c.1118C>A p.Thr373Lys 1
7592 3 c.1118C>A p.Thr373Lys 1
4 c.1250C>A p.Pro417His Z
7593 4 c.1224A>C p.Gln408His Z
4 c.1205G>A p.Arg402Gln 6
4 c.1265G>A p.Arg422Gln 3
7627 4 c.1193A>C p.Glu398Ala Z ∗3)
7630 2 c.820-2delA Splice site mutation Z
7631 4 c.1193A>C p.Glu398Ala Z ∗3)
4 c.1214G>T p.Arg405Leu Z
5 c.1467_1468insT p.Ala490fsX19 1
5 c.1501_1502insC p.Arg501fsX8 3
7634 3 c.1118C>A p.Thr373Lys 1
7670 1.1 c.236C>T p.Ser79Leu Z
1.1 c.242C>T p.Pro81Leu 1
2 c.985T>C p.Ser329Pro Z
7671 2 c.985T>C p.Ser329Pro Z