Accession number = X99686 Chrosomome number = chrm_23

c.316C>T.

c.331A>G.

c.403A>G.

c.455C>G.

c.467A>G.

c.473C>T.

c.629A>T.

c.905C>G.

c.916C>T.

c.502C>T.

c.508C>T.

c.613G>T.

c.763C>T.

c.808C>T.




c.316C>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
nochange150883456 (NA)donor:150883360
acceptor:150883712
c.316C>Tg150883422a 4.2 4.2 0.0 1.0 -1.2 -1.2 0.0



c.331A>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
nochange150883385 (NA)donor:150883360
acceptor:150883712
c.331A>Gt150883407c 2.4 2.4 0.0 1.0 -1.7 -1.7 0.0
nochange150883381 (NA)donor:150883360
acceptor:150883712
c.331A>Gt150883407c 3.3 3.3 0.0 1.0 -1.4 -1.4 0.0



c.403A>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
nochange150882549 (NA)donor:150881522
acceptor:150882605
c.403A>Gt150882579c 9.0 9.0 0.0 1.0 0.3 0.3 0.0



c.455C>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
nochange150882549 (NA)donor:150881522
acceptor:150882605
c.455C>Gg150882527c 9.0 9.0 0.0 1.0 0.3 0.3 0.0
nochange150882507 (NA)donor:150881522
acceptor:150882605
c.455C>Gg150882527c 7.0 7.0 0.0 1.0 -0.3 -0.3 0.0



c.467A>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
nochange150882549 (NA)donor:150881522
acceptor:150882605
c.467A>Gt150882515c 9.0 9.0 0.0 1.0 0.3 0.3 0.0
nochange150882507 (NA)donor:150881522
acceptor:150882605
c.467A>Gt150882515c 7.0 7.0 0.0 1.0 -0.3 -0.3 0.0



c.473C>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
decreased150882507 (NA)donor:150881522
acceptor:150882605
c.473C>Tg150882509a 7.0 6.9 0.1 0.9 -0.3 -0.3 0.0



c.629A>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
nochange150882373 (NA)donor:150881522
acceptor:150882605
c.629A>Tt150882353a 2.7 2.7 0.0 1.0 -1.6 -1.6 0.0
nochange150882365 (NA)donor:150881522
acceptor:150882605
c.629A>Tt150882353a 5.4 5.4 0.0 1.0 -0.8 -0.8 0.0
decreased150882357 (NA)donor:150881522
acceptor:150882605
c.629A>Tt150882353a 7.2 6.8 0.4 0.8 -0.2 -0.4 0.1



c.905C>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
nochange150882048 (NA)donor:150881522
acceptor:150882605
c.905C>Gg150882077c 4.3 4.3 0.0 1.0 -1.1 -1.1 0.0



c.916C>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
nochange150882048 (NA)donor:150881522
acceptor:150882605
c.916C>Tg150882066a 4.3 4.3 0.0 1.0 -1.1 -1.1 0.0
nochange150882036 (NA)donor:150881522
acceptor:150882605
c.916C>Tg150882066a 2.4 2.4 0.0 1.0 -1.7 -1.7 0.0



c.502C>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
nochange150882507 (NA)donor:150881522
acceptor:150882605
c.502C>Tg150882480a 7.0 7.0 0.0 1.0 -0.3 -0.3 0.0
increased150882481 (NA)donor:150881522
acceptor:150882605
c.502C>Tg150882480a<= 0.0 9.1>= 9.1 0.0 0.0 0.3 0.3



c.508C>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
nochange150882507 (NA)donor:150881522
acceptor:150882605
c.508C>Tg150882474a 7.0 7.0 0.0 1.0 -0.3 -0.3 0.0



c.613G>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
nochange150882365 (NA)donor:150881522
acceptor:150882605
c.613G>Tc150882369a 5.4 5.4 0.0 1.0 -0.8 -0.8 0.0
nochange150882357 (NA)donor:150881522
acceptor:150882605
c.613G>Tc150882369a 7.2 7.2 0.0 1.0 -0.2 -0.2 0.0
decreased150882373 (NA)donor:150881522
acceptor:150882605
c.613G>Tc150882369a 2.7<= 0.0>= 2.7 0.2 -1.6 0.0 -1.6



c.763C>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
nochange150882249 (NA)donor:150881522
acceptor:150882605
c.763C>Tg150882219a 3.2 3.2 0.0 1.0 -1.5 -1.5 0.0
nochange150882243 (NA)donor:150881522
acceptor:150882605
c.763C>Tg150882219a 4.7 4.7 0.0 1.0 -1.0 -1.0 0.0
increased150882220 (NA)donor:150881522
acceptor:150882605
c.763C>Tg150882219a<= 0.0 3.0>= 3.0 0.1 0.0 -1.5 -1.5



c.808C>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
nochange150882165 (NA)donor:150881522
acceptor:150882605
c.808C>Tg150882174a 2.5 2.5 0.0 1.0 -1.7 -1.7 0.0




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