Genename Variants
ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) g.9:107554263C>T,c.5774G>A,p.R1925Q
ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) g.9:107550322G>A,c.6083C>T,p.A2028V
ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) g.9:107546653G>T,c.6729C>A,p.D2243E
ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) g.7:48684250A>G,c.14981A>G,p.K4994R
ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) g.7:48634391C>T,c.14726C>T,p.A4909V
ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) g.7:48634375C>T,c.14710C>T,p.R4904W
ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) g.7:48626831C>T,c.14587C>T,p.R4863W
ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) g.7:48626771C>T,c.14527C>T,p.R4843C
ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) g.7:48626765A>G,c.14521A>G,p.I4841V
ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) g.7:48556448C>T,c.13768C>T,p.R4590W
ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) g.7:48556342G>A,c.13662G>A,p.M4554I
ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) g.7:48556328A>G,c.13648A>G,p.T4550A
ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) g.7:48547511C>A,c.13390C>A,p.L4464M
ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) g.7:48547481C>T,c.13360C>T,p.R4454C
ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) g.7:48545976A>G,c.13336A>G,p.K4446E
ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) g.7:48528923G>C,c.13273G>C,p.V4425L
ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) g.7:48520686C>A,c.13029C>A,p.H4343Q
ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) g.7:48506642A>G,c.12905A>G,p.Q4302R
ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) g.7:48506639G>A,c.12902G>A,p.R4301H
ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) g.7:48506566A>G,c.12829A>G,p.N4277D
ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) g.7:48494732G>C,c.12664G>C,p.A4222P
ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) g.7:48452181G>T,c.12459+1G>T,p.4153Donor
ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) g.7:48450212G>A,c.12166G>A,p.G4056S
ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) g.7:48450185C>G,c.12139C>G,p.L4047V
ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) g.7:48450173C>T,c.12127C>T,p.R4043C
ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) g.7:48450120G>A,c.12074G>A,p.R4025H
ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) g.7:48431657G>A,c.11794G>A,p.V3932I
ABCA13(NM_152701,ATP-binding cassette, sub-family A (ABC1), member 13,5058aa) g.7:48428715A>T,c.11552A>T,p.Y3851F
This is an excerpt of data-sheet including the published polymorphism sites observed in our studies. For the complete variant lists and potential collaboration, please contact huh@cougarlab.org