WFS1 gene.

Gene: WFS1
Accession: AF084481
Chromosome: chrm_4









c.376G>A


Sequence retrieved: 6283501 -54 to same +54 on Positive strand;    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
No Sites found for donor and acceptor



c.397G>A


Sequence retrieved: 6283522 -54 to same +54 on Positive strand;    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
No Sites found for donor and acceptor



c.505G>A


Sequence retrieved: 6285695 -40 to same +40 on Positive strand;    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
Sites found for Donor
nochange6285677 (NA)donor:6285822
acceptor:6285650
c.505G>Ag6285695a 9.7 9.7 0.0 1.0 0.5 0.5 0.0
No Sites found for acceptor



c.631G>A


Sequence retrieved: 6285821 -40 to same +40 on Positive strand;    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
Sites found for Donor
decreased6285822 (NA)donor:6285822
acceptor:6285650
c.631G>Ag6285821a 5.9 2.8 3.1 0.1 -0.6 -1.6 0.9
nochange6285809 (NA)donor:6285822
acceptor:6285650
c.631G>Ag6285821a 3.4 3.4 0.0 1.0 -1.4 -1.4 0.0
No Sites found for acceptor



c.874C>T


Sequence retrieved: 6295123 -40 to same +40 on Positive strand;    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
Sites found for Donor
nochange6295111 (NA)donor:6297720
acceptor:6295110
c.874C>Tc6295123t 4.4 4.4 0.0 1.0 -1.1 -1.1 0.0
Sites found for acceptor
nochange6295110 (NA)donor:6297720
acceptor:6295110
c.874C>Tc6295123t 11.4 11.4 0.0 1.0 0.6 0.6 0.0
nochange6295175 (NA)donor:6297720
acceptor:6295110
c.874C>Tc6295123t 3.0 3.0 0.0 1.0 -1.3 -1.3 0.0



c.887T>G


Sequence retrieved: 6295136 -40 to same +40 on Positive strand;    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
Sites found for Donor
nochange6295111 (NA)donor:6297720
acceptor:6295110
c.887T>Gt6295136g 4.4 4.4 0.0 1.0 -1.1 -1.1 0.0
Sites found for acceptor
nochange6295110 (NA)donor:6297720
acceptor:6295110
c.887T>Gt6295136g 11.4 11.4 0.0 1.0 0.6 0.6 0.0
nochange6295175 (NA)donor:6297720
acceptor:6295110
c.887T>Gt6295136g 3.0 3.0 0.0 1.0 -1.3 -1.3 0.0



c.1046_1048delTCT


Sequence retrieved: 6295295 -40 to same +40 on Positive strand;    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
Sites found for Donor
nochange6295321 (NA)donor:6297720
acceptor:6295110
c.1046_1048delTCTd6295295,6295297 4.2 4.2 0.0 1.0 -1.2 -1.2 0.0
Sites found for acceptor
decreased6295319 (NA)donor:6297720
acceptor:6295110
c.1046_1048delTCTd6295295,6295297 5.1 4.0 1.0 0.5 -0.8 -1.1 0.2
decreased6295320 (NA)donor:6297720
acceptor:6295110
c.1046_1048delTCTd6295295,6295297 3.0<= 0.0>= 3.0 0.1 -1.3 0.0 -1.3
nochange6295287 (NA)donor:6297720
acceptor:6295110
c.1046_1048delTCTd6295295,6295297 4.6 4.6 0.0 1.0 -0.9 -0.9 0.0
nochange6295290 (NA)donor:6297720
acceptor:6295110
c.1046_1048delTCTd6295295,6295297 7.5 7.5 0.0 1.0 -0.3 -0.3 0.0
nochange6295338 (NA)donor:6297720
acceptor:6295110
c.1046_1048delTCTd6295295,6295297 4.8 4.8 0.0 1.0 -0.9 -0.9 0.0
nochange6295347 (NA)donor:6297720
acceptor:6295110
c.1046_1048delTCTd6295295,6295297 4.1 4.1 0.0 1.0 -1.0 -1.0 0.0



c.1060_1062delTTC


Sequence retrieved: 6295309 -40 to same +40 on Positive strand;    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
Sites found for Donor
nochange6295321 (NA)donor:6297720
acceptor:6295110
c.1060_1062delTTCd6295309,6295311 4.2 4.2 0.0 1.0 -1.2 -1.2 0.0
nochange6295339 (NA)donor:6297720
acceptor:6295110
c.1060_1062delTTCd6295309,6295311 3.5 3.5 0.0 1.0 -1.4 -1.4 0.0
Sites found for acceptor
decreased6295319 (NA)donor:6297720
acceptor:6295110
c.1060_1062delTTCd6295309,6295311 5.1 2.7 2.4 0.2 -0.8 -1.4 0.5
decreased6295320 (NA)donor:6297720
acceptor:6295110
c.1060_1062delTTCd6295309,6295311 3.0<= 0.0>= 3.0 0.1 -1.3 0.0 -1.3
nochange6295287 (NA)donor:6297720
acceptor:6295110
c.1060_1062delTTCd6295309,6295311 4.6 4.6 0.0 1.0 -0.9 -0.9 0.0
nochange6295290 (NA)donor:6297720
acceptor:6295110
c.1060_1062delTTCd6295309,6295311 7.5 7.5 0.0 1.0 -0.3 -0.3 0.0
nochange6295338 (NA)donor:6297720
acceptor:6295110
c.1060_1062delTTCd6295309,6295311 4.8 4.8 0.0 1.0 -0.9 -0.9 0.0
nochange6295347 (NA)donor:6297720
acceptor:6295110
c.1060_1062delTTCd6295309,6295311 4.1 4.1 0.0 1.0 -1.0 -1.0 0.0



c.1240_1242delTTC


Sequence retrieved: 6295489 -54 to same +54 on Positive strand;    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
No Sites found for donor
Sites found for acceptor
decreased6295511 (NA)donor:6297720
acceptor:6295110
c.1240_1242delTTCd6295489,6295491 4.6 3.7 0.9 0.5 -0.9 -1.1 0.2
decreased6295492 (NA)donor:6297720
acceptor:6295110
c.1240_1242delTTCd6295489,6295491 2.7<= 0.0>= 2.7 0.2 -1.4 0.0 -1.4
decreased6295496 (NA)donor:6297720
acceptor:6295110
c.1240_1242delTTCd6295489,6295491 2.6<= 0.0>= 2.6 0.2 -1.4 0.0 -1.4
nochange6295513 (NA)donor:6297720
acceptor:6295110
c.1240_1242delTTCd6295489,6295491 4.0 4.0 0.0 1.0 -1.1 -1.1 0.0
nochange6295517 (NA)donor:6297720
acceptor:6295110
c.1240_1242delTTCd6295489,6295491 9.2 9.2 0.0 1.0 0.1 0.1 0.0
nochange6295521 (NA)donor:6297720
acceptor:6295110
c.1240_1242delTTCd6295489,6295491 4.0 4.0 0.0 1.0 -1.1 -1.1 0.0



c.1243_1245delGTC


Sequence retrieved: 6295492 -54 to same +54 on Positive strand;    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
No Sites found for donor
Sites found for acceptor
decreased6295492 (NA)donor:6297720
acceptor:6295110
c.1243_1245delGTCd6295492,6295494 2.7<= 0.0>= 2.7 0.2 -1.4 0.0 -1.4
increased6295496 (NA)donor:6297720
acceptor:6295110
c.1243_1245delGTCd6295492,6295494 2.6 4.3 1.7 0.3 -1.4 -1.0 0.4
increased6295511 (NA)donor:6297720
acceptor:6295110
c.1243_1245delGTCd6295492,6295494 4.6 4.8 0.2 0.9 -0.9 -0.9 0.0
increased6295513 (NA)donor:6297720
acceptor:6295110
c.1243_1245delGTCd6295492,6295494 4.0 5.1 1.1 0.5 -1.1 -0.8 0.2
increased6295517 (NA)donor:6297720
acceptor:6295110
c.1243_1245delGTCd6295492,6295494 9.2 10.1 0.9 0.5 0.1 0.3 0.2
nochange6295521 (NA)donor:6297720
acceptor:6295110
c.1243_1245delGTCd6295492,6295494 4.0 4.0 0.0 1.0 -1.1 -1.1 0.0



c.1309G>C


Sequence retrieved: 6295558 -54 to same +54 on Positive strand;    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
No Sites found for donor
Sites found for acceptor
increased6295577 (NA)donor:6297720
acceptor:6295110
c.1309G>Cg6295558c 4.5 5.3 0.8 0.6 -1.0 -0.8 0.2



c.1328G>T


Sequence retrieved: 6295577 -54 to same +54 on Positive strand;    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
No Sites found for donor
Sites found for acceptor
decreased6295577 (NA)donor:6297720
acceptor:6295110
c.1328G>Tg6295577t 4.5<= 0.0>= 4.5 0.0 -1.0 0.0 -1.0
nochange6295619 (NA)donor:6297720
acceptor:6295110
c.1328G>Tg6295577t 3.0 3.0 0.0 1.0 -1.3 -1.3 0.0



c.1511C>T


Sequence retrieved: 6295760 -40 to same +40 on Positive strand;    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
Sites found for Donor
nochange6295750 (NA)donor:6297720
acceptor:6295110
c.1511C>Tc6295760t 2.7 2.7 0.0 1.0 -1.6 -1.6 0.0
Sites found for acceptor
nochange6295799 (NA)donor:6297720
acceptor:6295110
c.1511C>Tc6295760t 3.8 3.8 0.0 1.0 -1.1 -1.1 0.0
nochange6295802 (NA)donor:6297720
acceptor:6295110
c.1511C>Tc6295760t 6.1 6.1 0.0 1.0 -0.6 -0.6 0.0
nochange6295809 (NA)donor:6297720
acceptor:6295110
c.1511C>Tc6295760t 6.7 6.7 0.0 1.0 -0.5 -0.5 0.0



c.1514G>A


Sequence retrieved: 6295763 -40 to same +40 on Positive strand;    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
Sites found for Donor
nochange6295750 (NA)donor:6297720
acceptor:6295110
c.1514G>Ag6295763a 2.7 2.7 0.0 1.0 -1.6 -1.6 0.0
Sites found for acceptor
nochange6295799 (NA)donor:6297720
acceptor:6295110
c.1514G>Ag6295763a 3.8 3.8 0.0 1.0 -1.1 -1.1 0.0
nochange6295802 (NA)donor:6297720
acceptor:6295110
c.1514G>Ag6295763a 6.1 6.1 0.0 1.0 -0.6 -0.6 0.0
nochange6295809 (NA)donor:6297720
acceptor:6295110
c.1514G>Ag6295763a 6.7 6.7 0.0 1.0 -0.5 -0.5 0.0



c.1546_1548delTTC


Sequence retrieved: 6295795 -54 to same +54 on Positive strand;    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
No Sites found for donor
Sites found for acceptor
decreased6295799 (NA)donor:6297720
acceptor:6295110
c.1546_1548delTTCd6295795,6295797 3.8 2.9 0.9 0.6 -1.1 -1.3 0.2
decreased6295802 (NA)donor:6297720
acceptor:6295110
c.1546_1548delTTCd6295795,6295797 6.1 3.8 2.3 0.2 -0.6 -1.1 0.5
decreased6295809 (NA)donor:6297720
acceptor:6295110
c.1546_1548delTTCd6295795,6295797 6.7 5.1 1.6 0.3 -0.5 -0.8 0.4



c.1620_1622delGTG


Sequence retrieved: 6295869 -40 to same +40 on Positive strand;    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
Sites found for Donor
decreased6295869 (NA)donor:6297720
acceptor:6295110
c.1620_1622delGTGd6295869,6295871 4.8<= 0.0>= 4.8 0.0 -1.0 0.0 -1.0
decreased6295871 (NA)donor:6297720
acceptor:6295110
c.1620_1622delGTGd6295869,6295871 3.6<= 0.0>= 3.6 0.1 -1.3 0.0 -1.3
increased6295866 (NA)donor:6297720
acceptor:6295110
c.1620_1622delGTGd6295869,6295871<= 0.0 4.7>= 4.7 0.0 0.0 -1.0 -1.0
increased6295868 (NA)donor:6297720
acceptor:6295110
c.1620_1622delGTGd6295869,6295871<= 0.0 3.2>= 3.2 0.1 0.0 -1.5 -1.5
nochange6295855 (NA)donor:6297720
acceptor:6295110
c.1620_1622delGTGd6295869,6295871 5.2 5.2 0.0 1.0 -0.9 -0.9 0.0
Sites found for acceptor
nochange6295854 (NA)donor:6297720
acceptor:6295110
c.1620_1622delGTGd6295869,6295871 2.7 2.7 0.0 1.0 -1.3 -1.3 0.0



c.1628T>G


Sequence retrieved: 6295877 -40 to same +40 on Positive strand;    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
Sites found for Donor
increased6295871 (NA)donor:6297720
acceptor:6295110
c.1628T>Gt6295877g 3.6 4.5 0.9 0.5 -1.3 -1.1 0.3
nochange6295855 (NA)donor:6297720
acceptor:6295110
c.1628T>Gt6295877g 5.2 5.2 0.0 1.0 -0.9 -0.9 0.0
nochange6295869 (NA)donor:6297720
acceptor:6295110
c.1628T>Gt6295877g 4.8 4.8 0.0 1.0 -1.0 -1.0 0.0
Sites found for acceptor
nochange6295854 (NA)donor:6297720
acceptor:6295110
c.1628T>Gt6295877g 2.7 2.7 0.0 1.0 -1.3 -1.3 0.0



c.1637T>A


Sequence retrieved: 6295886 -40 to same +40 on Positive strand;    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
Sites found for Donor
nochange6295855 (NA)donor:6297720
acceptor:6295110
c.1637T>At6295886a 5.2 5.2 0.0 1.0 -0.9 -0.9 0.0
nochange6295869 (NA)donor:6297720
acceptor:6295110
c.1637T>At6295886a 4.8 4.8 0.0 1.0 -1.0 -1.0 0.0
nochange6295871 (NA)donor:6297720
acceptor:6295110
c.1637T>At6295886a 3.6 3.6 0.0 1.0 -1.3 -1.3 0.0
No Sites found for acceptor



c.1673G>A


Sequence retrieved: 6295922 -54 to same +54 on Positive strand;    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
No Sites found for donor
Sites found for acceptor
nochange6295954 (NA)donor:6297720
acceptor:6295110
c.1673G>Ag6295922a 2.4 2.4 0.0 1.0 -1.4 -1.4 0.0
nochange6295964 (NA)donor:6297720
acceptor:6295110
c.1673G>Ag6295922a 4.8 4.8 0.0 1.0 -0.9 -0.9 0.0
nochange6295968 (NA)donor:6297720
acceptor:6295110
c.1673G>Ag6295922a 7.1 7.1 0.0 1.0 -0.4 -0.4 0.0



c.1816G>C


Sequence retrieved: 6296065 -40 to same +40 on Positive strand;    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
Sites found for Donor
nochange6296085 (NA)donor:6297720
acceptor:6295110
c.1816G>Cg6296065c 2.5 2.5 0.0 1.0 -1.7 -1.7 0.0
No Sites found for acceptor



c.1820C>G


Sequence retrieved: 6296069 -40 to same +40 on Positive strand;    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
Sites found for Donor
nochange6296085 (NA)donor:6297720
acceptor:6295110
c.1820C>Gc6296069g 2.5 2.5 0.0 1.0 -1.7 -1.7 0.0
No Sites found for acceptor



c.1885C>T


Sequence retrieved: 6296134 -40 to same +40 on Positive strand;    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
Sites found for Donor
nochange6296110 (NA)donor:6297720
acceptor:6295110
c.1885C>Tc6296134t 5.3 5.3 0.0 1.0 -0.8 -0.8 0.0
nochange6296119 (NA)donor:6297720
acceptor:6295110
c.1885C>Tc6296134t 4.8 4.8 0.0 1.0 -1.0 -1.0 0.0
nochange6296161 (NA)donor:6297720
acceptor:6295110
c.1885C>Tc6296134t 5.7 5.7 0.0 1.0 -0.7 -0.7 0.0
No Sites found for acceptor



c.2006A>G


Sequence retrieved: 6296255 -40 to same +40 on Positive strand;    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
Sites found for Donor
decreased6296258 (NA)donor:6297720
acceptor:6295110
c.2006A>Ga6296255g 5.0 4.0 1.0 0.5 -0.9 -1.2 0.3
increased6296299 (NA)donor:6297720
acceptor:6295110
c.2006A>Ga6296255g<= 0.0 5.6>= 5.6 0.0 0.0 -0.7 -0.7
Sites found for acceptor
nochange6296250 (NA)donor:6297720
acceptor:6295110
c.2006A>Ga6296255g 3.1 3.1 0.0 1.0 -1.3 -1.3 0.0



c.2051C>T


Sequence retrieved: 6296300 -54 to same +54 on Positive strand;    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
No Sites found for donor
Sites found for acceptor
increased6296321 (NA)donor:6297720
acceptor:6295110
c.2051C>Tc6296300t 3.1 3.1 0.1 1.0 -1.3 -1.3 0.0



c.2068T>C


Sequence retrieved: 6296317 -54 to same +54 on Positive strand;    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
No Sites found for donor
Sites found for acceptor
decreased6296321 (NA)donor:6297720
acceptor:6295110
c.2068T>Ct6296317c 3.1 2.4 0.6 0.6 -1.3 -1.4 0.1



c.2084G>T


Sequence retrieved: 6296333 -40 to same +40 on Positive strand;    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
Sites found for Donor
nochange6296364 (NA)donor:6297720
acceptor:6295110
c.2084G>Tg6296333t 6.4 6.4 0.0 1.0 -0.5 -0.5 0.0
Sites found for acceptor
increased6296339 (NA)donor:6297720
acceptor:6295110
c.2084G>Tg6296333t<= 0.0 2.8>= 2.8 0.1 0.0 -1.3 -1.3
nochange6296321 (NA)donor:6297720
acceptor:6295110
c.2084G>Tg6296333t 3.1 3.1 0.0 1.0 -1.3 -1.3 0.0



c.2100G>T


Sequence retrieved: 6296349 -40 to same +40 on Positive strand;    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
Sites found for Donor
nochange6296364 (NA)donor:6297720
acceptor:6295110
c.2100G>Tg6296349t 6.4 6.4 0.0 1.0 -0.5 -0.5 0.0
nochange6296374 (NA)donor:6297720
acceptor:6295110
c.2100G>Tg6296349t 2.4 2.4 0.0 1.0 -1.7 -1.7 0.0
Sites found for acceptor
increased6296431 (NA)donor:6297720
acceptor:6295110
c.2100G>Tg6296349t<= 0.0 2.5>= 2.5 0.2 0.0 -1.4 -1.4
nochange6296321 (NA)donor:6297720
acceptor:6295110
c.2100G>Tg6296349t 3.1 3.1 0.0 1.0 -1.3 -1.3 0.0



c.2122C>T


Sequence retrieved: 6296371 -40 to same +40 on Positive strand;    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
Sites found for Donor
decreased6296374 (NA)donor:6297720
acceptor:6295110
c.2122C>Tc6296371t 2.4<= 0.0>= 2.4 0.2 -1.7 0.0 -1.7
nochange6296364 (NA)donor:6297720
acceptor:6295110
c.2122C>Tc6296371t 6.4 6.4 0.0 1.0 -0.5 -0.5 0.0
No Sites found for acceptor



c.2149G>A


Sequence retrieved: 6296398 -40 to same +40 on Positive strand;    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
Sites found for Donor
increased6283530 (NA)donor:6297720
acceptor:6295110
c.2149G>Ag6296398a<= 0.0 4.5>= 4.5 0.0 0.0 -1.1 -1.1
nochange6296364 (NA)donor:6297720
acceptor:6295110
c.2149G>Ag6296398a 6.4 6.4 0.0 1.0 -0.5 -0.5 0.0
nochange6296374 (NA)donor:6297720
acceptor:6295110
c.2149G>Ag6296398a 2.4 2.4 0.0 1.0 -1.7 -1.7 0.0
No Sites found for acceptor



c.2171C>T


Sequence retrieved: 6296420 -54 to same +54 on Positive strand;    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
No Sites found for donor and acceptor



c.2206G>A


Sequence retrieved: 6296455 -54 to same +54 on Positive strand;    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
No Sites found for donor
Sites found for acceptor
increased6296477 (NA)donor:6297720
acceptor:6295110
c.2206G>Ag6296455a 3.4 3.8 0.4 0.7 -1.2 -1.1 0.1
increased6296456 (NA)donor:6297720
acceptor:6295110
c.2206G>Ag6296455a<= 0.0 4.2>= 4.2 0.1 0.0 -1.0 -1.0
increased6296706 (NA)donor:6297720
acceptor:6295110
c.2206G>Ag6296455a<= 0.0 2.6>= 2.6 0.2 0.0 -1.4 -1.4



c.2338G>C


Sequence retrieved: 6296587 -54 to same +54 on Positive strand;    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
No Sites found for donor and acceptor



c.2378G>C


Sequence retrieved: 6296627 -54 to same +54 on Positive strand;    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
No Sites found for donor and acceptor



c.2452C>T


Sequence retrieved: 6296701 -54 to same +54 on Positive strand;    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
No Sites found for donor and acceptor



c.2654C>T


Sequence retrieved: 6296903 -54 to same +54 on Positive strand;    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
No Sites found for donor
Sites found for acceptor
decreased6296905 (NA)donor:6297720
acceptor:6295110
c.2654C>Tc6296903t 4.9 3.2 1.7 0.3 -0.9 -1.2 0.4
increased6296910 (NA)donor:6297720
acceptor:6295110
c.2654C>Tc6296903t 6.1 6.1 0.0 1.0 -0.6 -0.6 0.0
increased6296913 (NA)donor:6297720
acceptor:6295110
c.2654C>Tc6296903t 6.2 6.9 0.7 0.6 -0.6 -0.4 0.1
increased6296914 (NA)donor:6297720
acceptor:6295110
c.2654C>Tc6296903t 3.0 3.6 0.5 0.7 -1.3 -1.2 0.1



c.406C>T


Sequence retrieved: 6283531 -54 to same +54 on Positive strand;    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
No Sites found for donor and acceptor



c.532_537del6


Sequence retrieved: 6285722 -54 to same +54 on Positive strand;    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
No Sites found for donor and acceptor



c.599delT


Sequence retrieved: 6285789 -40 to same +40 on Positive strand;    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
Sites found for Donor
nochange6285773 (NA)donor:6285822
acceptor:6285650
c.599delTd6285789,6285789 4.8 4.8 0.0 1.0 -1.0 -1.0 0.0
nochange6285809 (NA)donor:6285822
acceptor:6285650
c.599delTd6285789,6285789 3.4 3.4 0.0 1.0 -1.4 -1.4 0.0
nochange6285822 (NA)donor:6285822
acceptor:6285650
c.599delTd6285789,6285789 5.9 5.9 0.0 1.0 -0.6 -0.6 0.0
No Sites found for acceptor



c.670C>T


Sequence retrieved: 6286409 -40 to same +40 on Positive strand;    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
Sites found for Donor
nochange6286439 (NA)donor:6286452
acceptor:6286370
c.670C>Tc6286409t 4.4 4.4 0.0 1.0 -1.1 -1.1 0.0
Sites found for acceptor
decreased6286411 (NA)donor:6286452
acceptor:6286370
c.670C>Tc6286409t 4.9 3.3 1.7 0.3 -0.9 -1.2 0.4



c.676C>T


Sequence retrieved: 6286415 -40 to same +40 on Positive strand;    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
Sites found for Donor
increased6295152 (NA)donor:6286452
acceptor:6286370
c.676C>Tc6286415t<= 0.0 2.7>= 2.7 0.2 0.0 -1.6 -1.6
nochange6286439 (NA)donor:6286452
acceptor:6286370
c.676C>Tc6286415t 4.4 4.4 0.0 1.0 -1.1 -1.1 0.0
Sites found for acceptor
nochange6286411 (NA)donor:6286452
acceptor:6286370
c.676C>Tc6286415t 4.9 4.9 0.0 1.0 -0.9 -0.9 0.0



c.817G>T


Sequence retrieved: 6289599 -54 to same +54 on Positive strand;    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
No Sites found for donor
Sites found for acceptor
nochange6289580 (NA)donor:6289644
acceptor:6289494
c.817G>Tg6289599t 9.5 9.5 0.0 1.0 0.1 0.1 0.0



c.906C>A


Sequence retrieved: 6295155 -54 to same +54 on Positive strand;    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
No Sites found for donor
Sites found for acceptor
decreased6295175 (NA)donor:6297720
acceptor:6295110
c.906C>Ac6295155a 3.0<= 0.0>= 3.0 0.1 -1.3 0.0 -1.3



c.1038_1039insC


Sequence retrieved: 6295287 -40 to same +40 on Positive strand;    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
Sites found for Donor
nochange6295321 (211)6295110c.1038_1039insCi6295287,6295288c 4.2 4.2 0.0 1.0 -1.2 -1.2 0.0
Sites found for acceptor
decreased6295287 (177)6295110c.1038_1039insCi6295287,6295288c 4.6 3.7 0.9 0.5 -0.9 -1.1 0.2
decreased6295290 (180)6295110c.1038_1039insCi6295287,6295288c 7.5 5.3 2.2 0.2 -0.3 -0.8 0.5
nochange6295319 (209)6295110c.1038_1039insCi6295287,6295288c 5.1 5.1 0.0 1.0 -0.8 -0.8 0.0
nochange6295320 (210)6295110c.1038_1039insCi6295287,6295288c 3.0 3.0 0.0 1.0 -1.3 -1.3 0.0
nochange6295338 (228)6295110c.1038_1039insCi6295287,6295288c 4.8 4.8 0.0 1.0 -0.9 -0.9 0.0



c.1096C>T


Sequence retrieved: 6295345 -40 to same +40 on Positive strand;    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
Sites found for Donor
decreased6295339 (NA)donor:6297720
acceptor:6295110
c.1096C>Tc6295345t 3.5 3.2 0.3 0.8 -1.4 -1.5 0.1
nochange6295321 (NA)donor:6297720
acceptor:6295110
c.1096C>Tc6295345t 4.2 4.2 0.0 1.0 -1.2 -1.2 0.0
Sites found for acceptor
decreased6295347 (NA)donor:6297720
acceptor:6295110
c.1096C>Tc6295345t 4.1 2.4 1.7 0.3 -1.0 -1.4 0.4
nochange6295319 (NA)donor:6297720
acceptor:6295110
c.1096C>Tc6295345t 5.1 5.1 0.0 1.0 -0.8 -0.8 0.0
nochange6295320 (NA)donor:6297720
acceptor:6295110
c.1096C>Tc6295345t 3.0 3.0 0.0 1.0 -1.3 -1.3 0.0
nochange6295338 (NA)donor:6297720
acceptor:6295110
c.1096C>Tc6295345t 4.8 4.8 0.0 1.0 -0.9 -0.9 0.0



c.1112G>A


Sequence retrieved: 6295361 -40 to same +40 on Positive strand;    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
Sites found for Donor
nochange6295339 (NA)donor:6297720
acceptor:6295110
c.1112G>Ag6295361a 3.5 3.5 0.0 1.0 -1.4 -1.4 0.0
Sites found for acceptor
nochange6295338 (NA)donor:6297720
acceptor:6295110
c.1112G>Ag6295361a 4.8 4.8 0.0 1.0 -0.9 -0.9 0.0
nochange6295347 (NA)donor:6297720
acceptor:6295110
c.1112G>Ag6295361a 4.1 4.1 0.0 1.0 -1.0 -1.0 0.0



c.1230_1233delCTCT


Sequence retrieved: 6295479 -54 to same +54 on Positive strand;    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
No Sites found for donor
Sites found for acceptor
decreased6295492 (NA)donor:6297720
acceptor:6295110
c.1230_1233delCTCTd6295479,6295482 2.7<= 0.0>= 2.7 0.2 -1.4 0.0 -1.4
decreased6295496 (NA)donor:6297720
acceptor:6295110
c.1230_1233delCTCTd6295479,6295482 2.6<= 0.0>= 2.6 0.2 -1.4 0.0 -1.4
nochange6295511 (NA)donor:6297720
acceptor:6295110
c.1230_1233delCTCTd6295479,6295482 4.6 4.6 0.0 1.0 -0.9 -0.9 0.0
nochange6295513 (NA)donor:6297720
acceptor:6295110
c.1230_1233delCTCTd6295479,6295482 4.0 4.0 0.0 1.0 -1.1 -1.1 0.0
nochange6295517 (NA)donor:6297720
acceptor:6295110
c.1230_1233delCTCTd6295479,6295482 9.2 9.2 0.0 1.0 0.1 0.1 0.0
nochange6295521 (NA)donor:6297720
acceptor:6295110
c.1230_1233delCTCTd6295479,6295482 4.0 4.0 0.0 1.0 -1.1 -1.1 0.0



c.1362_1377del16


Sequence retrieved: 6295611 -54 to same +54 on Positive strand;    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
No Sites found for donor
Sites found for acceptor
decreased6295619 (NA)donor:6297720
acceptor:6295110
c.1362_1377del16d6295611,6295626 3.0<= 0.0>= 3.0 0.1 -1.3 0.0 -1.3



c.1380_1388del9


Sequence retrieved: 6295629 -54 to same +54 on Positive strand;    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
No Sites found for donor
Sites found for acceptor
nochange6295619 (NA)donor:6297720
acceptor:6295110
c.1380_1388del9d6295629,6295637 3.0 3.0 0.0 1.0 -1.3 -1.3 0.0



c.1433G>A


Sequence retrieved: 6295682 -54 to same +54 on Positive strand;    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
No Sites found for donor
Sites found for acceptor
decreased6295695 (NA)donor:6297720
acceptor:6295110
c.1433G>Ag6295682a 4.6 4.0 0.5 0.7 -0.9 -1.1 0.1



c.1456C>T


Sequence retrieved: 6295705 -54 to same +54 on Positive strand;    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
No Sites found for donor
Sites found for acceptor
nochange6295695 (NA)donor:6297720
acceptor:6295110
c.1456C>Tc6295705t 4.6 4.6 0.0 1.0 -0.9 -0.9 0.0



c.1522_1536del15


Sequence retrieved: 6295771 -40 to same +40 on Positive strand;    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
Sites found for Donor
nochange6295750 (NA)donor:6297720
acceptor:6295110
c.1522_1536del15d6295771,6295785 2.7 2.7 0.0 1.0 -1.6 -1.6 0.0
Sites found for acceptor
decreased6295799 (NA)donor:6297720
acceptor:6295110
c.1522_1536del15d6295771,6295785 3.8 3.3 0.5 0.7 -1.1 -1.2 0.1
decreased6295802 (NA)donor:6297720
acceptor:6295110
c.1522_1536del15d6295771,6295785 6.1 5.7 0.4 0.8 -0.6 -0.7 0.1
nochange6295809 (NA)donor:6297720
acceptor:6295110
c.1522_1536del15d6295771,6295785 6.7 6.7 0.0 1.0 -0.5 -0.5 0.0



c.1523_1524delAT


Sequence retrieved: 6295772 -40 to same +40 on Positive strand;    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
Sites found for Donor
nochange6295750 (NA)donor:6297720
acceptor:6295110
c.1523_1524delATd6295772,6295773 2.7 2.7 0.0 1.0 -1.6 -1.6 0.0
Sites found for acceptor
nochange6295799 (NA)donor:6297720
acceptor:6295110
c.1523_1524delATd6295772,6295773 3.8 3.8 0.0 1.0 -1.1 -1.1 0.0
nochange6295802 (NA)donor:6297720
acceptor:6295110
c.1523_1524delATd6295772,6295773 6.1 6.1 0.0 1.0 -0.6 -0.6 0.0
nochange6295809 (NA)donor:6297720
acceptor:6295110
c.1523_1524delATd6295772,6295773 6.7 6.7 0.0 1.0 -0.5 -0.5 0.0



c.1525_1537del13


Sequence retrieved: 6295774 -40 to same +40 on Positive strand;    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
Sites found for Donor
nochange6295750 (NA)donor:6297720
acceptor:6295110
c.1525_1537del13d6295774,6295786 2.7 2.7 0.0 1.0 -1.6 -1.6 0.0
Sites found for acceptor
decreased6295799 (NA)donor:6297720
acceptor:6295110
c.1525_1537del13d6295774,6295786 3.8 2.7 1.1 0.5 -1.1 -1.4 0.2
decreased6295802 (NA)donor:6297720
acceptor:6295110
c.1525_1537del13d6295774,6295786 6.1 5.8 0.3 0.8 -0.6 -0.7 0.1
decreased6295809 (NA)donor:6297720
acceptor:6295110
c.1525_1537del13d6295774,6295786 6.7 6.1 0.6 0.7 -0.5 -0.6 0.1



c.1549delC


Sequence retrieved: 6295798 -54 to same +54 on Positive strand;    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
No Sites found for donor
Sites found for acceptor
decreased6295809 (NA)donor:6297720
acceptor:6295110
c.1549delCd6295798,6295798 6.7 6.4 0.3 0.8 -0.5 -0.5 0.1
decreased6295799 (NA)donor:6297720
acceptor:6295110
c.1549delCd6295798,6295798 3.8<= 0.0>= 3.8 0.1 -1.1 0.0 -1.1
increased6295802 (NA)donor:6297720
acceptor:6295110
c.1549delCd6295798,6295798 6.1 6.4 0.3 0.8 -0.6 -0.5 0.1



c.1558C>T


Sequence retrieved: 6295807 -54 to same +54 on Positive strand;    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
No Sites found for donor
Sites found for acceptor
decreased6295809 (NA)donor:6297720
acceptor:6295110
c.1558C>Tc6295807t 6.7 5.0 1.7 0.3 -0.5 -0.8 0.4
nochange6295799 (NA)donor:6297720
acceptor:6295110
c.1558C>Tc6295807t 3.8 3.8 0.0 1.0 -1.1 -1.1 0.0
nochange6295802 (NA)donor:6297720
acceptor:6295110
c.1558C>Tc6295807t 6.1 6.1 0.0 1.0 -0.6 -0.6 0.0
nochange6295854 (NA)donor:6297720
acceptor:6295110
c.1558C>Tc6295807t 2.7 2.7 0.0 1.0 -1.3 -1.3 0.0



c.1581_1582insC


Sequence retrieved: 6295830 -54 to same +54 on Positive strand;    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
No Sites found for donor
Sites found for acceptor
nochange6295802 (692)6295110c.1581_1582insCi6295830,6295831c 6.1 6.1 0.0 1.0 -0.6 -0.6 0.0
nochange6295809 (699)6295110c.1581_1582insCi6295830,6295831c 6.7 6.7 0.0 1.0 -0.5 -0.5 0.0
nochange6295854 (744)6295110c.1581_1582insCi6295830,6295831c 2.7 2.7 0.0 1.0 -1.3 -1.3 0.0



c.1584C>G


Sequence retrieved: 6295833 -40 to same +40 on Positive strand;    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
Sites found for Donor
nochange6295855 (NA)donor:6297720
acceptor:6295110
c.1584C>Gc6295833g 5.2 5.2 0.0 1.0 -0.9 -0.9 0.0
Sites found for acceptor
decreased6295854 (NA)donor:6297720
acceptor:6295110
c.1584C>Gc6295833g 2.7<= 0.0>= 2.7 0.2 -1.3 0.0 -1.3
nochange6295809 (NA)donor:6297720
acceptor:6295110
c.1584C>Gc6295833g 6.7 6.7 0.0 1.0 -0.5 -0.5 0.0



c.1602C>G


Sequence retrieved: 6295851 -40 to same +40 on Positive strand;    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
Sites found for Donor
nochange6295855 (NA)donor:6297720
acceptor:6295110
c.1602C>Gc6295851g 5.2 5.2 0.0 1.0 -0.9 -0.9 0.0
nochange6295869 (NA)donor:6297720
acceptor:6295110
c.1602C>Gc6295851g 4.8 4.8 0.0 1.0 -1.0 -1.0 0.0
nochange6295871 (NA)donor:6297720
acceptor:6295110
c.1602C>Gc6295851g 3.6 3.6 0.0 1.0 -1.3 -1.3 0.0
Sites found for acceptor
decreased6295854 (NA)donor:6297720
acceptor:6295110
c.1602C>Gc6295851g 2.7 2.5 0.2 0.9 -1.3 -1.4 0.0
increased6295851 (NA)donor:6297720
acceptor:6295110
c.1602C>Gc6295851g<= 0.0 5.8>= 5.8 0.0 0.0 -0.7 -0.7



c.1611_1624del14


Sequence retrieved: 6295860 -40 to same +40 on Positive strand;    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
Sites found for Donor
decreased6295869 (NA)donor:6297720
acceptor:6295110
c.1611_1624del14d6295860,6295873 4.8<= 0.0>= 4.8 0.0 -1.0 0.0 -1.0
decreased6295871 (NA)donor:6297720
acceptor:6295110
c.1611_1624del14d6295860,6295873 3.6<= 0.0>= 3.6 0.1 -1.3 0.0 -1.3
increased6295855 (NA)donor:6297720
acceptor:6295110
c.1611_1624del14d6295860,6295873 5.2 5.9 0.8 0.6 -0.9 -0.6 0.2
increased6295857 (NA)donor:6297720
acceptor:6295110
c.1611_1624del14d6295860,6295873<= 0.0 3.6>= 3.6 0.1 0.0 -1.3 -1.3
Sites found for acceptor
nochange6295854 (NA)donor:6297720
acceptor:6295110
c.1611_1624del14d6295860,6295873 2.7 2.7 0.0 1.0 -1.3 -1.3 0.0



c.1699_1704del6


Sequence retrieved: 6295948 -40 to same +40 on Positive strand;    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
Sites found for Donor
nochange6295969 (NA)donor:6297720
acceptor:6295110
c.1699_1704del6d6295948,6295953 2.7 2.7 0.0 1.0 -1.6 -1.6 0.0
Sites found for acceptor
decreased6295968 (NA)donor:6297720
acceptor:6295110
c.1699_1704del6d6295948,6295953 7.1 6.6 0.5 0.7 -0.4 -0.5 0.1
decreased6295954 (NA)donor:6297720
acceptor:6295110
c.1699_1704del6d6295948,6295953 2.4<= 0.0>= 2.4 0.2 -1.4 0.0 -1.4
decreased6295964 (NA)donor:6297720
acceptor:6295110
c.1699_1704del6d6295948,6295953 4.8<= 0.0>= 4.8 0.0 -0.9 0.0 -0.9



c.1839G>A


Sequence retrieved: 6296088 -40 to same +40 on Positive strand;    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
Sites found for Donor
increased6296085 (NA)donor:6297720
acceptor:6295110
c.1839G>Ag6296088a 2.5 5.1 2.6 0.2 -1.7 -0.9 0.8
nochange6296110 (NA)donor:6297720
acceptor:6295110
c.1839G>Ag6296088a 5.3 5.3 0.0 1.0 -0.8 -0.8 0.0
nochange6296119 (NA)donor:6297720
acceptor:6295110
c.1839G>Ag6296088a 4.8 4.8 0.0 1.0 -1.0 -1.0 0.0
No Sites found for acceptor



c.1944G>A


Sequence retrieved: 6296193 -40 to same +40 on Positive strand;    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
Sites found for Donor
nochange6296161 (NA)donor:6297720
acceptor:6295110
c.1944G>Ag6296193a 5.7 5.7 0.0 1.0 -0.7 -0.7 0.0
Sites found for acceptor
increased6296212 (NA)donor:6297720
acceptor:6295110
c.1944G>Ag6296193a 4.3 4.5 0.2 0.9 -1.0 -1.0 0.0



c.1999C>T


Sequence retrieved: 6296248 -40 to same +40 on Positive strand;    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
Sites found for Donor
increased6296247 (NA)donor:6297720
acceptor:6295110
c.1999C>Tc6296248t<= 0.0 2.9>= 2.9 0.1 0.0 -1.6 -1.6
nochange6296258 (NA)donor:6297720
acceptor:6295110
c.1999C>Tc6296248t 5.0 5.0 0.0 1.0 -0.9 -0.9 0.0
Sites found for acceptor
decreased6296250 (NA)donor:6297720
acceptor:6295110
c.1999C>Tc6296248t 3.1<= 0.0>= 3.1 0.1 -1.3 0.0 -1.3



c.2002C>T


Sequence retrieved: 6296251 -40 to same +40 on Positive strand;    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
Sites found for Donor
increased6296502 (NA)donor:6297720
acceptor:6295110
c.2002C>Tc6296251t<= 0.0 3.6>= 3.6 0.1 0.0 -1.3 -1.3
nochange6296258 (NA)donor:6297720
acceptor:6295110
c.2002C>Tc6296251t 5.0 5.0 0.0 1.0 -0.9 -0.9 0.0
Sites found for acceptor
decreased6296250 (NA)donor:6297720
acceptor:6295110
c.2002C>Tc6296251t 3.1 2.8 0.3 0.8 -1.3 -1.3 0.1



c.2254G>T


Sequence retrieved: 6296503 -54 to same +54 on Positive strand;    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
No Sites found for donor
Sites found for acceptor
increased6296706 (NA)donor:6297720
acceptor:6295110
c.2254G>Tg6296503t<= 0.0 2.8>= 2.8 0.1 0.0 -1.3 -1.3
increased6296778 (NA)donor:6297720
acceptor:6295110
c.2254G>Tg6296503t<= 0.0 3.0>= 3.0 0.1 0.0 -1.3 -1.3
nochange6296477 (NA)donor:6297720
acceptor:6295110
c.2254G>Tg6296503t 3.4 3.4 0.0 1.0 -1.2 -1.2 0.0



c.2262_2263delCT


Sequence retrieved: 6296511 -54 to same +54 on Positive strand;    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
No Sites found for donor and acceptor



c.2315_2316insT


Sequence retrieved: 6296564 -54 to same +54 on Positive strand;    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
No Sites found for donor and acceptor



c.2392insGAC


Sequence retrieved: 6296641 -54 to same +54 on Positive strand;    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
No Sites found for donor and acceptor



c.2433delA


Sequence retrieved: 6296682 -54 to same +54 on Positive strand;    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
No Sites found for donor and acceptor



c.2455C>T


Sequence retrieved: 6296704 -54 to same +54 on Positive strand;    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
No Sites found for donor and acceptor



c.2504_2505insC


Sequence retrieved: 6296753 -54 to same +54 on Positive strand;    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
No Sites found for donor and acceptor



c.2638_2643del6


Sequence retrieved: 6296887 -54 to same +54 on Positive strand;    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
No Sites found for donor
Sites found for acceptor
decreased6296905 (NA)donor:6297720
acceptor:6295110
c.2638_2643del6d6296887,6296892 4.9 4.0 0.8 0.6 -0.9 -1.1 0.2
increased6296910 (NA)donor:6297720
acceptor:6295110
c.2638_2643del6d6296887,6296892 6.1 6.6 0.5 0.7 -0.6 -0.5 0.1
increased6296913 (NA)donor:6297720
acceptor:6295110
c.2638_2643del6d6296887,6296892 6.2 6.5 0.3 0.8 -0.6 -0.5 0.1
nochange6296914 (NA)donor:6297720
acceptor:6295110
c.2638_2643del6d6296887,6296892 3.0 3.0 0.0 1.0 -1.3 -1.3 0.0



c.2642_2643delTC


Sequence retrieved: 6296891 -54 to same +54 on Positive strand;    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
No Sites found for donor
Sites found for acceptor
decreased6296905 (NA)donor:6297720
acceptor:6295110
c.2642_2643delTCd6296891,6296892 4.9 4.1 0.7 0.6 -0.9 -1.0 0.2
decreased6296910 (NA)donor:6297720
acceptor:6295110
c.2642_2643delTCd6296891,6296892 6.1 5.2 0.9 0.6 -0.6 -0.8 0.2
decreased6296913 (NA)donor:6297720
acceptor:6295110
c.2642_2643delTCd6296891,6296892 6.2 5.1 1.1 0.5 -0.6 -0.8 0.3
decreased6296914 (NA)donor:6297720
acceptor:6295110
c.2642_2643delTCd6296891,6296892 3.0<= 0.0>= 3.0 0.1 -1.3 0.0 -1.3



c.2648_2651delTCTT


Sequence retrieved: 6296897 -54 to same +54 on Positive strand;    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
No Sites found for donor
Sites found for acceptor
decreased6296910 (NA)donor:6297720
acceptor:6295110
c.2648_2651delTCTTd6296897,6296900 6.1 4.0 2.1 0.2 -0.6 -1.1 0.5
decreased6296913 (NA)donor:6297720
acceptor:6295110
c.2648_2651delTCTTd6296897,6296900 6.2 4.8 1.4 0.4 -0.6 -0.9 0.3
decreased6296905 (NA)donor:6297720
acceptor:6295110
c.2648_2651delTCTTd6296897,6296900 4.9<= 0.0>= 4.9 0.0 -0.9 0.0 -0.9
decreased6296914 (NA)donor:6297720
acceptor:6295110
c.2648_2651delTCTTd6296897,6296900 3.0<= 0.0>= 3.0 0.1 -1.3 0.0 -1.3



IVS4+1G>A


Sequence retrieved: 6283586 -40 to same +40 on Positive strand;    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
Sites found for Donor
decreased6283586 (0)6283586IVS4+1G>Ag6283586a 8.4<= 0.0>= 8.4 0.0 0.1 0.0 0.1
nochange6283566 (-20)6283586IVS4+1G>Ag6283586a 3.7 3.7 0.0 1.0 -1.3 -1.3 0.0
nochange6283596 (10)6283586IVS4+1G>Ag6283586a 3.7 3.7 0.0 1.0 -1.3 -1.3 0.0
No Sites found for acceptor




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