Accession number = M14113 Chrosomome number = chrm_23

c.541G>A.

c.669A>T.

c.850G>T.

c.1636C>T.

c.1636C>T.

c.5953C>T.

c.6977G>C.




c.541G>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
nochange151761344 (NA)donor:151761292
acceptor:151761506
c.541G>Ac151761353t 5.9 5.9 0.0 1.0 -0.6 -0.6 0.0



c.669A>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
decreased151755593 (NA)donor:151755593
acceptor:151755663
c.669A>Tt151755595a 8.5 6.4 2.1 0.2 0.1 -0.5 0.6
nochange151755589 (NA)donor:151755593
acceptor:151755663
c.669A>Tt151755595a 5.3 5.3 0.0 1.0 -0.8 -0.8 0.0



c.850G>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
nochange151737813 (NA)donor:151737629
acceptor:151737852
c.850G>Tc151737789a 5.5 5.5 0.0 1.0 -0.8 -0.8 0.0



c.1636C>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
nochange151725407 (NA)donor:151725254
acceptor:151725470
c.1636C>Tg151725371a 3.5 3.5 0.0 1.0 -1.4 -1.4 0.0



c.1636C>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
nochange151725407 (NA)donor:151725254
acceptor:151725470
c.1636C>Tg151725371a 3.5 3.5 0.0 1.0 -1.4 -1.4 0.0



c.5953C>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
decreased151679290 (NA)donor:151679241
acceptor:151679425
c.5953C>Tg151679287a 2.6 2.6 0.0 1.0 -1.6 -1.7 0.0



c.6977G>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
decreased151652355 (NA)donor:151650710
acceptor:151652669
c.6977G>Cc151652352g 5.2 4.7 0.5 0.7 -0.8 -1.0 0.2
nochange151652339 (NA)donor:151650710
acceptor:151652669
c.6977G>Cc151652352g 3.1 3.1 0.0 1.0 -1.5 -1.5 0.0




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