Accession number = X78121 Chrosomome number = chrm_23

47delC.

79+1G>A.

146+1G>A.

160G>T.

555__556delAG.

559delG.

579__587del9ins8.

599C>G.

745C>T.

756__757delAAinsT.

787C>T.

798delG.

970+1G>T.

1248C>A.

1274+1G>A.

1319delA.

1380-6T>G.

1380-1G>A.

1393delG.

1542T>A.




47delC

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
nochange83338266 (NA)donor:83338216
acceptor:83338296
47delCd83338249,83338249 2.8 2.8 0.0 1.0 -1.3 -1.3 0.0



79+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
nochange83318174 (-49)8331822379+1G>Ac83318223t 7.5 7.5 0.0 1.0 -0.3 -0.3 0.0



146+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
nochange83272479 (10)83272469146+1G>Ac83272469t 3.3 3.3 0.0 1.0 -1.2 -1.2 0.0
nochange83272428 (-41)83272469146+1G>Ac83272469t 2.5 2.5 0.0 1.0 -1.4 -1.4 0.0
nochange83272425 (-44)83272469146+1G>Ac83272469t 3.6 3.6 0.0 1.0 -1.2 -1.2 0.0



160G>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
nochange83272552 (NA)donor:83272469
acceptor:83272543
160G>Tc83272529a 8.7 8.7 0.0 1.0 -0.0 -0.0 0.0
nochange83272551 (NA)donor:83272469
acceptor:83272543
160G>Tc83272529a 4.4 4.4 0.0 1.0 -1.0 -1.0 0.0
nochange83272549 (NA)donor:83272469
acceptor:83272543
160G>Tc83272529a 6.5 6.5 0.0 1.0 -0.5 -0.5 0.0
nochange83272545 (NA)donor:83272469
acceptor:83272543
160G>Tc83272529a 3.5 3.5 0.0 1.0 -1.2 -1.2 0.0
nochange83272543 (NA)donor:83272469
acceptor:83272543
160G>Tc83272529a 12.1 12.1 0.0 1.0 0.7 0.7 0.0
nochange83272540 (NA)donor:83272469
acceptor:83272543
160G>Tc83272529a 3.5 3.5 0.0 1.0 -1.2 -1.2 0.0
nochange83272499 (NA)donor:83272469
acceptor:83272543
160G>Tc83272529a 8.0 8.0 0.0 1.0 -0.2 -0.2 0.0
nochange83272479 (NA)donor:83272469
acceptor:83272543
160G>Tc83272529a 3.3 3.3 0.0 1.0 -1.2 -1.2 0.0



555__556delAG

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
nochange83254524 (NA)donor:83254398
acceptor:83254787
555__556delAGd83254575,83254576 3.7 3.7 0.0 1.0 -1.1 -1.1 0.0



559delG

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
nochange83254524 (NA)donor:83254398
acceptor:83254787
559delGd83254572,83254572 3.7 3.7 0.0 1.0 -1.1 -1.1 0.0
nochange83254521 (NA)donor:83254398
acceptor:83254787
559delGd83254572,83254572 3.3 3.3 0.0 1.0 -1.2 -1.2 0.0



579__587del9ins8

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
decreased83254524 (NA)donor:83254398
acceptor:83254787
579__587del9ins8d83254544,83254552 3.7 2.9 0.8 0.6 -1.1 -1.3 0.2
decreased83254521 (NA)donor:83254398
acceptor:83254787
579__587del9ins8d83254544,83254552 3.3 2.7 0.6 0.7 -1.2 -1.3 0.1



599C>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
decreased83254524 (NA)donor:83254398
acceptor:83254787
599C>Gg83254532c 3.7<= 0.0>= 3.7 0.1 -1.1 0.0 -1.1
decreased83254521 (NA)donor:83254398
acceptor:83254787
599C>Gg83254532c 3.3<= 0.0>= 3.3 0.1 -1.2 0.0 -1.2



745C>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
nochange83249712 (NA)donor:83249594
acceptor:83249712
745C>Tg83249699a 8.0 8.0 0.0 1.0 -0.2 -0.2 0.0
decreased83249696 (NA)donor:83249594
acceptor:83249712
745C>Tg83249699a 3.1 2.8 0.3 0.8 -1.3 -1.3 0.1
nochange83249648 (NA)donor:83249594
acceptor:83249712
745C>Tg83249699a 2.4 2.4 0.0 1.0 -1.4 -1.4 0.0



756__757delAAinsT

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
nochange83249712 (NA)donor:83249594
acceptor:83249712
756__757delAAinsTd83249687,83249688 8.0 8.0 0.0 1.0 -0.2 -0.2 0.0
nochange83249696 (NA)donor:83249594
acceptor:83249712
756__757delAAinsTd83249687,83249688 3.1 3.1 0.0 1.0 -1.3 -1.3 0.0
nochange83249648 (NA)donor:83249594
acceptor:83249712
756__757delAAinsTd83249687,83249688 2.4 2.4 0.0 1.0 -1.4 -1.4 0.0



787C>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
increased83249648 (NA)donor:83249594
acceptor:83249712
787C>Tg83249657a 2.4 3.0 0.6 0.7 -1.4 -1.3 0.1



798delG

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
increased83249648 (NA)donor:83249594
acceptor:83249712
798delGd83249646,83249646 2.4 2.9 0.5 0.7 -1.4 -1.3 0.1



970+1G>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
nochange83246912 (26)83246886970+1G>Tc83246886a 4.1 4.1 0.0 1.0 -1.0 -1.0 0.0
decreased83246887 (1)83246886970+1G>Tc83246886a 7.9 5.7 2.2 0.2 -0.2 -0.7 0.5
nochange83246853 (-33)83246886970+1G>Tc83246886a 4.0 4.0 0.0 1.0 -1.1 -1.1 0.0
nochange83246851 (-35)83246886970+1G>Tc83246886a 3.0 3.0 0.0 1.0 -1.3 -1.3 0.0
nochange83246850 (-36)83246886970+1G>Tc83246886a 5.9 5.9 0.0 1.0 -0.7 -0.7 0.0



1248C>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
nochange83202029 (NA)donor:83201994
acceptor:83202073
1248C>Ag83202021t 7.0 7.0 0.0 1.0 -0.4 -0.4 0.0
nochange83202024 (NA)donor:83201994
acceptor:83202073
1248C>Ag83202021t 5.7 5.7 0.0 1.0 -0.7 -0.7 0.0
decreased83202014 (NA)donor:83201994
acceptor:83202073
1248C>Ag83202021t 2.4<= 0.0>= 2.4 0.2 -1.4 0.0 -1.4



1274+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
decreased83191818 (1)831918171274+1G>Ac83191817t 3.8 2.8 1.0 0.5 -1.1 -1.3 0.2
increased83191795 (-22)831918171274+1G>Ac83191817t<= 0.0 2.8>= 2.8 0.1 0.0 -1.3 -1.3



1319delA

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
increased83191862 (NA)donor:83191817
acceptor:83191923
1319delAd83191878,83191878 2.5 4.0 1.4 0.4 -1.4 -1.1 0.3



1380-6T>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
decreased83191444 (0)831914441380-6T>Ga83191449c 9.9 7.0 2.8 0.1 0.2 -0.4 0.6
decreased83191440 (-4)831914441380-6T>Ga83191449c 3.7<= 0.0>= 3.7 0.1 -1.1 0.0 -1.1
increased83191449 (5)831914441380-6T>Ga83191449c<= 0.0 7.8>= 7.8 0.0 0.0 -0.2 -0.2



1380-1G>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
increased83191440 (-4)831914441380-1G>Ac83191444t 3.7 4.0 0.3 0.8 -1.1 -1.1 0.1
decreased83191444 (0)831914441380-1G>Ac83191444t 9.9<= 0.0>= 9.9 0.0 0.2 0.0 0.2



1393delG

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
nochange83191444 (NA)donor:83191379
acceptor:83191444
1393delGd83191430,83191430 9.9 9.9 0.0 1.0 0.2 0.2 0.0
nochange83191440 (NA)donor:83191379
acceptor:83191444
1393delGd83191430,83191430 3.7 3.7 0.0 1.0 -1.1 -1.1 0.0



1542T>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
decreased83169798 (NA)donor:83169698
acceptor:83169798
1542T>Aa83169796t 10.3 9.8 0.5 0.7 0.3 0.2 0.1
nochange83169762 (NA)donor:83169698
acceptor:83169798
1542T>Aa83169796t 2.9 2.9 0.0 1.0 -1.3 -1.3 0.0




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