Accession number = X78121 Chrosomome number = chrm_23

47delC.

79+1G>A.

146+1G>A.

555__556delAG.

559delG.

579__587del9ins8.

756__757delAAinsT.

787C>T.

798delG.

829C>T.

838C>T.

907C>T.

934delT.

970+1G>T.

1248C>A.

1274+1G>A.

1319delA.

1379+2_+3insGGT.

1614__1618delTGTT.

1633G>T.




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
nochange83338235 (NA)donor:83338216
acceptor:83338296
47delCd83338249,83338249 2.9 2.9 0.0 1.0 -1.5 -1.5 0.0
nochange83338216 (NA)donor:83338216
acceptor:83338296
47delCd83338249,83338249 7.7 7.7 0.0 1.0 -0.1 -0.1 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
decreased83318223 (0)8331822379+1G>Ac83318223t 4.4<= 0.0>= 4.4 0.0 -1.1 0.0 -1.1



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
decreased83272469 (0)83272469146+1G>Ac83272469t 7.5<= 0.0>= 7.5 0.0 -0.2 0.0 -0.2



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
nochange83254596 (NA)donor:83254398
acceptor:83254787
555__556delAGd83254575,83254576 5.4 5.4 0.0 1.0 -0.8 -0.8 0.0
increased83254581 (NA)donor:83254398
acceptor:83254787
555__556delAGd83254575,83254576 3.0 3.3 0.4 0.8 -1.5 -1.4 0.1



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
nochange83254596 (NA)donor:83254398
acceptor:83254787
559delGd83254572,83254572 5.4 5.4 0.0 1.0 -0.8 -0.8 0.0
nochange83254581 (NA)donor:83254398
acceptor:83254787
559delGd83254572,83254572 3.0 3.0 0.0 1.0 -1.5 -1.5 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
nochange83254581 (NA)donor:83254398
acceptor:83254787
579__587del9ins8d83254544,83254552 3.0 3.0 0.0 1.0 -1.5 -1.5 0.0
increased83254556 (NA)donor:83254398
acceptor:83254787
579__587del9ins8d83254544,83254552<= 0.0 3.2>= 3.2 0.1 0.0 -1.5 -1.5



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
nochange83249663 (NA)donor:83249594
acceptor:83249712
756__757delAAinsTd83249687,83249688 4.5 4.5 0.0 1.0 -1.1 -1.1 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
decreased83249663 (NA)donor:83249594
acceptor:83249712
787C>Tg83249657a 4.5 4.2 0.3 0.8 -1.1 -1.1 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
nochange83249663 (NA)donor:83249594
acceptor:83249712
798delGd83249646,83249646 4.5 4.5 0.0 1.0 -1.1 -1.1 0.0



829C>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
nochange83249594 (NA)donor:83249594
acceptor:83249712
829C>Tg83249615a 4.0 4.0 0.0 1.0 -1.2 -1.2 0.0



838C>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
nochange83249594 (NA)donor:83249594
acceptor:83249712
838C>Tg83249606a 4.0 4.0 0.0 1.0 -1.2 -1.2 0.0
nochange83249573 (NA)donor:83249594
acceptor:83249712
838C>Tg83249606a 3.6 3.6 0.0 1.0 -1.3 -1.3 0.0



907C>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
nochange83248661 (NA)donor:83248588
acceptor:83248710
907C>Tg83248652a 2.8 2.8 0.0 1.0 -1.6 -1.6 0.0
increased83248653 (NA)donor:83248588
acceptor:83248710
907C>Tg83248652a<= 0.0 6.0>= 6.0 0.0 0.0 -0.6 -0.6



934delT

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
nochange83248661 (NA)donor:83248588
acceptor:83248710
934delTd83248625,83248625 2.8 2.8 0.0 1.0 -1.6 -1.6 0.0



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
decreased83246886 (0)83246886970+1G>Tc83246886a 12.2 4.4 7.8 0.0 1.3 -1.1 2.4



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
nochange83201994 (NA)donor:83201994
acceptor:83202073
1248C>Ag83202021t 8.3 8.3 0.0 1.0 0.1 0.1 0.0
increased83202024 (NA)donor:83201994
acceptor:83202073
1248C>Ag83202021t<= 0.0 2.6>= 2.6 0.2 0.0 -1.6 -1.6



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
nochange83191830 (13)831918171274+1G>Ac83191817t 3.8 3.8 0.0 1.0 -1.3 -1.3 0.0
nochange83191785 (-32)831918171274+1G>Ac83191817t 8.1 8.1 0.0 1.0 0.0 0.0 0.0
decreased83191817 (0)831918171274+1G>Ac83191817t 11.3<= 0.0>= 11.3 0.0 1.0 0.0 1.0



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
nochange83191896 (NA)donor:83191817
acceptor:83191923
1319delAd83191878,83191878 3.0 3.0 0.0 1.0 -1.5 -1.5 0.0



1379+2_+3insGGT

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
decreased83191379 (0)831913791379+2_+3insGGTi83191377,83191378cca 8.7 4.1 4.6 0.0 0.2 -1.2 1.4



1614__1618delTGTT

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
nochange83169698 (NA)donor:83169698
acceptor:83169798
1614__1618delTGTTd83169720,83169723 9.5 9.5 0.0 1.0 0.5 0.5 0.0



1633G>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
nochange83169698 (NA)donor:83169698
acceptor:83169798
1633G>Tc83169705a 9.5 9.5 0.0 1.0 0.5 0.5 0.0
increased83169706 (NA)donor:83169698
acceptor:83169798
1633G>Tc83169705a<= 0.0 3.2>= 3.2 0.1 0.0 -1.5 -1.5



1633G>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
increased83163894 (NA)donor:83169698
acceptor:83169798
1633G>Tc83169705a<= 0.0 5.3>= 5.3 0.0 0.0 -0.8 -0.8




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