Accession number = U84007 Chrosomome number = chrm_1

2423C>T,.

4380G>A,.

1100T>C,.

IVS21+1G>A.

512A>G.

2547delG.




2423C>T,

Sequence Walker

Type of changeBase[Ri changed] (relative position)Natural SiteHUGO representationActual mutationInitial(Ri)Final(Ri)Delta Rimin fold reductionInitial(Z)Final(z)Delta Z
nochange99638028 (NA)donor:99638185
acceptor:99638028
2423C>T,c99638050t 8.1 8.1 0.0 1.0 -0.2 -0.2 0.0
nochange99638035 (NA)donor:99638185
acceptor:99638028
2423C>T,c99638050t 6.0 6.0 0.0 1.0 -0.6 -0.6 0.0
nochange99638095 (NA)donor:99638185
acceptor:99638028
2423C>T,c99638050t 5.3 5.3 0.0 1.0 -0.8 -0.8 0.0



4380G>A,

Sequence Walker

Type of changeBase[Ri changed] (relative position)Natural SiteHUGO representationActual mutationInitial(Ri)Final(Ri)Delta Rimin fold reductionInitial(Z)Final(z)Delta Z
nochange99670344 (NA)donor:99670476
acceptor:99670263
4380G>A,g99670294a 3.3 3.3 0.0 1.0 -1.2 -1.2 0.0



1100T>C,

Sequence Walker

Type of changeBase[Ri changed] (relative position)Natural SiteHUGO representationActual mutationInitial(Ri)Final(Ri)Delta Rimin fold reductionInitial(Z)Final(z)Delta Z
nochange99627146 (NA)donor:99627319
acceptor:99627136
1100T>C,t99627172c 5.5 5.5 0.0 1.0 -0.7 -0.7 0.0



IVS21+1G>A

Sequence Walker

Type of changeBase[Ri changed] (relative position)Natural SiteHUGO representationActual mutationInitial(Ri)Final(Ri)Delta Rimin fold reductionInitial(Z)Final(z)Delta Z
nochange99644836 (-10)99644846IVS21+1G>Ag99644846a 4.0 4.0 0.0 1.0 -1.1 -1.1 0.0
nochange99644889 (43)99644846IVS21+1G>Ag99644846a 10.8 10.8 0.0 1.0 0.4 0.4 0.0



512A>G

Sequence Walker

Type of changeBase[Ri changed] (relative position)Natural SiteHUGO representationActual mutationInitial(Ri)Final(Ri)Delta Rimin fold reductionInitial(Z)Final(z)Delta Z
increased99618277 (NA)donor:99618451
acceptor:99618239
512A>Ga99618269g 5.6 5.9 0.3 0.8 -0.7 -0.7 0.1



2547delG

Sequence Walker

Type of changeBase[Ri changed] (relative position)Natural SiteHUGO representationActual mutationInitial(Ri)Final(Ri)Delta Rimin fold reductionInitial(Z)Final(z)Delta Z
nochange99638213 (NA)donor:99638185
acceptor:99638028
2547delGd99638174,99638174 8.3 8.3 0.0 1.0 -0.1 -0.1 0.0
nochange99638225 (NA)donor:99638185
acceptor:99638028
2547delGd99638174,99638174 6.8 6.8 0.0 1.0 -0.5 -0.5 0.0




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