Accession number = M82814 Chrosomome number = chrm_17

278G>A.

560G>A.

574C>T.

603-604insT.

910C>T.

1381C>T.

1466A>G.

IVS16+1G>T.

IVS16+3del6.

2970-2972delAAT.

3193delC.

3277G>A.

3367G>T.

4084C>T.

IVS26-2A>T.

IVS34-2A>T.

5033delG.

5264C>G.

5546G>A.

5567delT.

5567delT.

6577delGAG.

6858G>C.

7096_7101del6.

IVS39-12T>A.

7201A>T.

7884-7885delGT.




278G>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
nochange29336010 (NA)donor:29336010
acceptor:29335925
278G>Ag29335999a 9.3 9.3 0.0 1.0 0.4 0.4 0.0
nochange29336014 (NA)donor:29336010
acceptor:29335925
278G>Ag29335999a 4.0 4.0 0.0 1.0 -1.2 -1.2 0.0
nochange29336029 (NA)donor:29336010
acceptor:29335925
278G>Ag29335999a 4.1 4.1 0.0 1.0 -1.2 -1.2 0.0



560G>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
nochange29346914 (NA)donor:29346914
acceptor:29346806
560G>Ag29346887a 9.8 9.8 0.0 1.0 0.5 0.5 0.0



574C>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
nochange29346914 (NA)donor:29346914
acceptor:29346806
574C>Tc29346901t 9.8 9.8 0.0 1.0 0.5 0.5 0.0



603-604insT

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
nochange29357698 (-639)29358337603-604insTi29357734,29357735t 3.4 3.4 0.0 1.0 -1.4 -1.4 0.0
nochange29357747 (-590)29358337603-604insTi29357734,29357735t 2.5 2.5 0.0 1.0 -1.7 -1.7 0.0



910C>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
nochange29377387 (NA)donor:29377512
acceptor:29377337
910C>Tc29377359t 4.5 4.5 0.0 1.0 -1.1 -1.1 0.0



1381C>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
nochange29383288 (NA)donor:29383288
acceptor:29383155
1381C>Tc29383276t 8.6 8.6 0.0 1.0 0.2 0.2 0.0



1466A>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
nochange29391463 (NA)donor:29391502
acceptor:29391366
1466A>Ga29391440g 4.7 4.7 0.0 1.0 -1.0 -1.0 0.0
increased29391440 (NA)donor:29391502
acceptor:29391366
1466A>Ga29391440g<= 2.4 6.2>= 3.8 0.1 0.0 -0.5 -0.5



IVS16+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
decreased29400484 (0)29400484IVS16+1G>Tg29400484t 11.2 3.4 7.8 0.0 1.0 -1.4 2.4



IVS16+3del6

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
decreased29400484 (0)29400484IVS16+3del6d29400486,29400486 11.2 4.5 6.7 0.0 1.0 -1.1 2.0



2970-2972delAAT

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
nochange29406886 (NA)donor:29406891
acceptor:29406750
2970-2972delAATd29406872,29406874 4.1 4.1 0.0 1.0 -1.2 -1.2 0.0
nochange29406891 (NA)donor:29406891
acceptor:29406750
2970-2972delAATd29406872,29406874 11.3 11.3 0.0 1.0 1.0 1.0 0.0



3193delC

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
nochange29407825 (NA)donor:29407842
acceptor:29407757
3193delCd29407837,29407837 2.6 2.6 0.0 1.0 -1.6 -1.6 0.0
nochange29407842 (NA)donor:29407842
acceptor:29407757
3193delCd29407837,29407837 7.5 7.5 0.0 1.0 -0.2 -0.2 0.0
nochange29407870 (NA)donor:29407842
acceptor:29407757
3193delCd29407837,29407837 2.5 2.5 0.0 1.0 -1.7 -1.7 0.0



3277G>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
increased29409066 (NA)donor:29409106
acceptor:29408988
3277G>Ag29409068a 5.7 6.1 0.4 0.8 -0.7 -0.6 0.1



3367G>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
nochange29409672 (NA)donor:29409798
acceptor:29409615
3367G>Tg29409668t 4.6 4.6 0.0 1.0 -1.0 -1.0 0.0
nochange29409684 (NA)donor:29409798
acceptor:29409615
3367G>Tg29409668t 4.6 4.6 0.0 1.0 -1.0 -1.0 0.0



4084C>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
nochange29426013 (NA)donor:29426036
acceptor:29425899
4084C>Tc29426009t 5.4 5.4 0.0 1.0 -0.8 -0.8 0.0
nochange29426036 (NA)donor:29426036
acceptor:29425899
4084C>Tc29426009t 7.7 7.7 0.0 1.0 -0.1 -0.1 0.0



IVS26-2A>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
nochange29409885 (-32)29409917IVS26-2A>Ta29409916t 4.9 4.9 0.0 1.0 -0.9 -0.9 0.0



IVS34-2A>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
nochange29442152 (8)29442144IVS34-2A>Ta29442143t 6.5 6.5 0.0 1.0 -0.4 -0.4 0.0



5033delG

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
nochange29503005 (NA)donor:29503169
acceptor:29502735
5033delGd29502996,29502996 4.5 4.5 0.0 1.0 -1.1 -1.1 0.0



5264C>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
nochange29504436 (NA)donor:29504756
acceptor:29504414
5264C>Gc29504473g 5.2 5.2 0.0 1.0 -0.9 -0.9 0.0



5546G>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
decreased29504756 (NA)donor:29504756
acceptor:29504414
5546G>Ag29504755a 7.5 4.4 3.1 0.1 -0.2 -1.1 0.9



5567delT

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
nochange29507212 (NA)donor:29507415
acceptor:29507211
5567delTd29507232,29507232 4.4 4.4 0.0 1.0 -1.1 -1.1 0.0



5567delT

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
increased29511800 (NA)donor:29507415
acceptor:29507211
5567delTd29507232,29507232<= 2.4 2.5>= 0.1 0.9 0.0 -1.7 -1.7



6577delGAG

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
decreased29514499 (NA)donor:29514499
acceptor:29514283
6577delGAGd29514496,29514498 3.7 2.6 1.1 0.5 -1.3 -1.6 0.3



6858G>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
decreased29515722 (NA)donor:29515722
acceptor:29515619
6858G>Cg29515721c 8.7 4.6 4.0 0.1 0.2 -1.0 1.2



7096_7101del6

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
nochange29520052 (NA)donor:29520052
acceptor:29519924
7096_7101del6d29520021,29520026 7.5 7.5 0.0 1.0 -0.2 -0.2 0.0



IVS39-12T>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
nochange29513213 (-35)29513248IVS39-12T>At29513237a 2.9 2.9 0.0 1.0 -1.5 -1.5 0.0



7201A>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
nochange29526137 (NA)donor:29526168
acceptor:29526035
7201A>Ta29526110t 4.6 4.6 0.0 1.0 -1.0 -1.0 0.0



7884-7885delGT

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
nochange29534286 (NA)donor:29534286
acceptor:29534184
7884-7885delGTd29534263,29534264 5.5 5.5 0.0 1.0 -0.8 -0.8 0.0




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