|
ENST00000671928.2:c.-74G>T
(BTD)
|
ENSP00000500069.2:n.-74G>T
|
|
|
ENST00000672892.2:c.-74G>T
(BTD)
|
ENSP00000499944.2:n.-74G>T
|
|
|
ENST00000303498.10:c.-350G>T
(BTD)
|
ENSP00000306477.6:n.-350G>T
|
|
|
ENST00000417015.3:c.-74G>T
(BTD)
|
ENSP00000403775.3:n.-74G>T
|
|
|
ENST00000427382.2:c.-17+190G>T
(BTD)
|
ENSP00000397113.2:n.-17+190G>T
|
|
|
ENST00000437172.6:c.-262G>T
(BTD)
|
ENSP00000400995.2:n.-262G>T
|
|
|
ENST00000449107.7:c.-17+67G>T
(BTD)
|
ENSP00000388212.2:n.-17+67G>T
|
|
|
ENST00000467027.6:n.74G>T
(BTD)
|
|
|
|
ENST00000643237.3:c.-74G>T
(BTD)
MANE Select
|
ENSP00000495254.2:n.-74G>T
|
|
|
ENST00000646371.1:c.-293+67G>T
(BTD)
|
ENSP00000495866.1:n.-293+67G>T
|
|
|
ENST00000672065.1:c.-14G>T
(BTD)
|
ENSP00000500403.1:n.-14G>T
|
|
|
ENST00000672112.1:c.-196G>T
(BTD)
|
ENSP00000500193.1:n.-196G>T
|
|
|
ENST00000672141.1:c.-74G>T
(BTD)
|
ENSP00000500210.1:n.-74G>T
|
|
|
ENST00000672336.1:c.-766G>T
(BTD)
|
ENSP00000500267.1:n.-766G>T
|
|
|
ENST00000672427.1:c.-74G>T
(BTD)
|
ENSP00000500131.1:n.-74G>T
|
|
|
ENST00000672760.1:c.-74G>T
(BTD)
|
ENSP00000500530.1:n.-74G>T
|
|
|
ENST00000672968.1:n.20+67G>T
(BTD)
|
|
|
|
ENST00000673467.1:c.-74G>T
(BTD)
|
ENSP00000500288.1:n.-74G>T
|
|
|
ENST00000673620.1:c.-17+67G>T
(BTD)
|
ENSP00000500325.1:n.-17+67G>T
|
|
|
ENST00000303498.9:c.-14G>T
(BTD)
|
ENSP00000306477.5:n.-14G>T
|
|
|
ENST00000417015.1:c.*238G>T
(BTD)
|
ENSP00000403775.1:n.*238G>T
|
|
|
ENST00000427382.1:c.-17+190G>T
(BTD)
|
ENSP00000397113.1:n.-17+190G>T
|
|
|
ENST00000437172.5:c.-196G>T
(BTD)
|
ENSP00000400995.1:n.-196G>T
|
|
|
ENST00000449107.5:c.50+67G>T
(BTD)
|
ENSP00000388212.1:n.50+67G>T
|
|
|
ENST00000467027.5:n.37G>T
(BTD)
|
|
|
|
ENST00000471964.5:n.67G>T
(BTD)
|
|
|
|
ENST00000480711.1:n.90G>T
(BTD)
|
|
|
|
ENST00000494021.1:n.401+67G>T
(BTD)
|
|
|
|
ENST00000628377.2:c.-374C>A
(HACL1)
|
ENSP00000486684.1:n.-374C>A
|
|
|
NM_000060.3:c.-14G>T
(BTD)
|
NP_000051.1:n.-14G>T
|
|
|
NM_001281723.1:c.50+67G>T
(BTD)
|
NP_001268652.1:n.50+67G>T
|
|
|
NM_001281724.1:c.-196G>T
(BTD)
|
NP_001268653.1:n.-196G>T
|
|
|
NM_001281726.1:c.-14G>T
(BTD)
|
NP_001268655.1:n.-14G>T
|
|
|
NM_001284413.1:c.-374C>A
(HACL1)
|
NP_001271342.1:n.-374C>A
|
|
|
NM_001284415.1:c.-374C>A
(HACL1)
|
NP_001271344.1:n.-374C>A
|
|
|
NM_001284416.1:c.-374C>A
(HACL1)
|
NP_001271345.1:n.-374C>A
|
|
|
NM_012260.3:c.-374C>A
(HACL1)
|
NP_036392.2:n.-374C>A
|
|
|
NR_104315.1:n.16C>A
(HACL1)
|
|
|
|
XM_006713314.2:c.-350G>T
(BTD)
|
XP_006713377.1:n.-350G>T
|
|
|
XM_011534041.1:c.-248G>T
(BTD)
|
XP_011532343.1:n.-248G>T
|
|
|
NM_000060.4:c.-14G>T
(BTD)
|
NP_000051.1:n.-14G>T
|
|
|
NM_001281723.2:c.50+67G>T
(BTD)
|
NP_001268652.1:n.50+67G>T
|
|
|
NM_001281724.2:c.-196G>T
(BTD)
|
NP_001268653.1:n.-196G>T
|
|
|
NM_001323582.1:c.-350G>T
(BTD)
|
NP_001310511.1:n.-350G>T
|
|
|
XM_011534041.2:c.-248G>T
(BTD)
|
XP_011532343.1:n.-248G>T
|
|
|
XM_017007088.1:c.-524G>T
(BTD)
|
XP_016862577.1:n.-524G>T
|
|
|
NM_001281723.3:c.-17+67G>T
(BTD)
|
NP_001268652.2:n.-17+67G>T
|
|
|
NM_001281724.3:c.-262G>T
(BTD)
|
NP_001268653.2:n.-262G>T
|
|
|
NM_001370658.1:c.-74G>T
(BTD)
MANE Select
|
NP_001357587.1:n.-74G>T
|
|
|
NM_001370752.1:c.-74G>T
(BTD)
|
NP_001357681.1:n.-74G>T
|
|
|
NM_001370753.1:c.-74G>T
(BTD)
|
NP_001357682.1:n.-74G>T
|
|
|
NM_001281726.2:c.-74G>T
(BTD)
|
NP_001268655.2:n.-74G>T
|
|
