Genename |
Variants |
ABCA8(NM_007168,ATP-binding cassette, sub-family A (ABC1), member 8,1581aa) |
g.17:66924083G>A,c.1247C>T,p.A416V |
ABCA8(NM_007168,ATP-binding cassette, sub-family A (ABC1), member 8,1581aa) |
g.17:66920993G>A,c.1291C>T,p.R431C |
ABCA8(NM_007168,ATP-binding cassette, sub-family A (ABC1), member 8,1581aa) |
g.17:66914251G>A,c.1864C>T,p.R622C |
ABCA8(NM_007168,ATP-binding cassette, sub-family A (ABC1), member 8,1581aa) |
g.17:66914238C>T,c.1877G>A,p.R626H |
ABCA8(NM_007168,ATP-binding cassette, sub-family A (ABC1), member 8,1581aa) |
g.17:66914191C>A,c.1924G>T,p.A642S |
ABCA8(NM_007168,ATP-binding cassette, sub-family A (ABC1), member 8,1581aa) |
g.17:66904001A>C,c.2038T>G,p.C680G |
ABCA8(NM_007168,ATP-binding cassette, sub-family A (ABC1), member 8,1581aa) |
g.17:66903998C>T,c.2041G>A,p.V681I |
ABCA8(NM_007168,ATP-binding cassette, sub-family A (ABC1), member 8,1581aa) |
g.17:66903932C>T,c.2107G>A,p.E703K |
ABCA8(NM_007168,ATP-binding cassette, sub-family A (ABC1), member 8,1581aa) |
g.17:66902302G>T,c.2161C>A,p.L721I |
ABCA8(NM_007168,ATP-binding cassette, sub-family A (ABC1), member 8,1581aa) |
g.17:66899613G>A,c.2306C>T,p.A769V |
ABCA8(NM_007168,ATP-binding cassette, sub-family A (ABC1), member 8,1581aa) |
g.17:66891131G>C,c.2668C>G,p.Q890E |
ABCA8(NM_007168,ATP-binding cassette, sub-family A (ABC1), member 8,1581aa) |
g.17:66883223C>T,c.3244G>A,p.V1082M |
ABCA8(NM_007168,ATP-binding cassette, sub-family A (ABC1), member 8,1581aa) |
g.17:66883204C>T,c.3263G>A,p.R1088H |
ABCA8(NM_007168,ATP-binding cassette, sub-family A (ABC1), member 8,1581aa) |
g.17:66881456C>T,c.3310G>A,p.V1104I |
ABCA8(NM_007168,ATP-binding cassette, sub-family A (ABC1), member 8,1581aa) |
g.17:66880018G>T,c.3501C>A,p.F1167L |
ABCA8(NM_007168,ATP-binding cassette, sub-family A (ABC1), member 8,1581aa) |
g.17:66878099C>T,c.3731G>A,p.C1244Y |
ABCA8(NM_007168,ATP-binding cassette, sub-family A (ABC1), member 8,1581aa) |
g.17:66872833G>A,c.4091C>T,p.A1364V |
ABCA8(NM_007168,ATP-binding cassette, sub-family A (ABC1), member 8,1581aa) |
g.17:66871837C>T,c.4288G>A,p.G1430S |
ABCA8(NM_007168,ATP-binding cassette, sub-family A (ABC1), member 8,1581aa) |
g.17:66871795C>T,c.4330G>A,p.V1444M |
ABCA8(NM_007168,ATP-binding cassette, sub-family A (ABC1), member 8,1581aa) |
g.17:66871411G>A,c.4501C>T,p.R1501W |
ABCA8(NM_007168,ATP-binding cassette, sub-family A (ABC1), member 8,1581aa) |
g.17:66864324C>T,c.4648G>A,p.V1550I |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1065305G>A,c.6322G>A,p.E2108K |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1065097T>G,c.6212T>G,p.F2071C |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1065018G>T,c.6133G>T,p.A2045S |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1064171G>T,c.5963G>T,p.C1988F |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1062293C>T,c.5693C>T,p.P1898L |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1062278G>A,c.5678G>A,p.R1893H |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1062277C>T,c.5677C>T,p.R1893C |