|
ENST00000671928.2:c.-157C>T
(BTD)
|
ENSP00000500069.2:n.-157C>T
|
|
|
ENST00000672892.2:c.-157C>T
(BTD)
|
ENSP00000499944.2:n.-157C>T
|
|
|
ENST00000303498.10:c.-433C>T
(BTD)
|
ENSP00000306477.6:n.-433C>T
|
|
|
ENST00000417015.3:c.-157C>T
(BTD)
|
ENSP00000403775.3:n.-157C>T
|
|
|
ENST00000427382.2:c.-17+107C>T
(BTD)
|
ENSP00000397113.2:n.-17+107C>T
|
|
|
ENST00000449107.7:c.-33C>T
(BTD)
|
ENSP00000388212.2:n.-33C>T
|
|
|
ENST00000643237.3:c.-157C>T
(BTD)
MANE Select
|
ENSP00000495254.2:n.-157C>T
|
|
|
ENST00000646371.1:c.-309C>T
(BTD)
|
ENSP00000495866.1:n.-309C>T
|
|
|
ENST00000672065.1:c.-97C>T
(BTD)
|
ENSP00000500403.1:n.-97C>T
|
|
|
ENST00000672112.1:c.-279C>T
(BTD)
|
ENSP00000500193.1:n.-279C>T
|
|
|
ENST00000672141.1:c.-157C>T
(BTD)
|
ENSP00000500210.1:n.-157C>T
|
|
|
ENST00000672968.1:n.4C>T
(BTD)
|
|
|
|
ENST00000673620.1:c.-33C>T
(BTD)
|
ENSP00000500325.1:n.-33C>T
|
|
|
ENST00000303498.9:c.-97C>T
(BTD)
|
ENSP00000306477.5:n.-97C>T
|
|
|
ENST00000321169.9:c.-291G>A
(HACL1)
|
ENSP00000323811.5:n.-291G>A
|
|
|
ENST00000417015.1:c.*155C>T
(BTD)
|
ENSP00000403775.1:n.*155C>T
|
|
|
ENST00000427382.1:c.-17+107C>T
(BTD)
|
ENSP00000397113.1:n.-17+107C>T
|
|
|
ENST00000449107.5:c.34C>T
(BTD)
|
ENSP00000388212.1:p.Leu12=
|
|
|
ENST00000480711.1:n.7C>T
(BTD)
|
|
|
|
ENST00000494021.1:n.385C>T
(BTD)
|
|
|
|
ENST00000628377.2:c.-291G>A
(HACL1)
|
ENSP00000486684.1:n.-291G>A
|
|
|
NM_000060.3:c.-97C>T
(BTD)
|
NP_000051.1:n.-97C>T
|
|
|
NM_001281723.1:c.34C>T
(BTD)
|
NP_001268652.1:p.Leu12=
|
|
|
NM_001281724.1:c.-279C>T
(BTD)
|
NP_001268653.1:n.-279C>T
|
|
|
NM_001281726.1:c.-97C>T
(BTD)
|
NP_001268655.1:n.-97C>T
|
|
|
NM_001284413.1:c.-291G>A
(HACL1)
|
NP_001271342.1:n.-291G>A
|
|
|
NM_001284415.1:c.-291G>A
(HACL1)
|
NP_001271344.1:n.-291G>A
|
|
|
NM_001284416.1:c.-291G>A
(HACL1)
|
NP_001271345.1:n.-291G>A
|
|
|
NM_012260.3:c.-291G>A
(HACL1)
|
NP_036392.2:n.-291G>A
|
|
|
NR_104315.1:n.99G>A
(HACL1)
|
|
|
|
NM_000060.4:c.-97C>T
(BTD)
|
NP_000051.1:n.-97C>T
|
|
|
NM_001281723.2:c.34C>T
(BTD)
|
NP_001268652.1:p.Leu12=
|
|
|
NM_001281724.2:c.-279C>T
(BTD)
|
NP_001268653.1:n.-279C>T
|
|
|
NM_001323582.1:c.-433C>T
(BTD)
|
NP_001310511.1:n.-433C>T
|
|
|
NM_001281723.3:c.-33C>T
(BTD)
|
NP_001268652.2:n.-33C>T
|
|
|
NM_001281724.3:c.-345C>T
(BTD)
|
NP_001268653.2:n.-345C>T
|
|
|
NM_001370658.1:c.-157C>T
(BTD)
MANE Select
|
NP_001357587.1:n.-157C>T
|
|
|
NM_001370752.1:c.-157C>T
(BTD)
|
NP_001357681.1:n.-157C>T
|
|
|
NM_001370753.1:c.-157C>T
(BTD)
|
NP_001357682.1:n.-157C>T
|
|
|
NM_001281726.2:c.-157C>T
(BTD)
|
NP_001268655.2:n.-157C>T
|
|
