accesion # AF000571


chromosome# 11



KCNQ1 341T>C Leu114Pro* N-terminal 1


502G>A Gly168Arg* S2 3


775C>T Arg259Cys S4-S5 5


946G>C Gly316Arg Pore 7


1022C>T Ala341Val S6 7


1557G>A Lys557Glu* C-terminal 13


1781G>A Arg594GIn C-terminal 15




KCNQ1 1-5t>c Kozac variant 5’ L TR 0.10


387+217C>T unclassi˘ed Exon 2a 0.12


811C>T Leu271Leu Exon 6 0.01


1110G>A Ala370Alaa Exon 8 0.01


1131C>G Thr377Thr Exon 9 0.01


IVS10-39t>g Intronic variant Intron10 0.07


IVS10-14c>t Intronic variant Intron10 0.01


1476A>G Glu492Glu Exon11 0.01


IVS12+14t>c Intronic variant Intron12 0.20


1638G>A Ser546Ser Exon13 0.12


IVS13+36g>a Intronic variant Intron13 n.a.


IVS14+43t>c Intronic variant Intron14 0.19


IVS15+32g>t Intronic variant Intron15 0.06


1986C>T Tyr662Tyr Exon16 0.35


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