Genename |
Variants |
ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) |
g.16:48242386C>T,c.1630G>A,p.G544S |
ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) |
g.16:48242379G>A,c.1637C>T,p.T546M |
ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) |
g.16:48239429G>A,c.1700C>T,p.S567L |
ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) |
g.16:48239324C>T,c.1805G>A,p.R602Q |
ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) |
g.16:48234381G>A,c.1888C>T,p.R630W |
ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) |
g.16:48234330C>T,c.1939G>A,p.A647T |
ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) |
g.16:48234327C>T,c.1942G>A,p.V648I |
ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) |
g.16:48234210C>T,c.2059G>A,p.V687I |
ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) |
g.16:48231954T>C,c.2242A>G,p.I748V |
ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) |
g.16:48226474G>A,c.2663C>T,p.T888M |
ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) |
g.16:48221319C>T,c.2726G>A,p.S909N |
ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) |
g.16:48221232G>C,c.2813C>G,p.S938X |
ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) |
g.16:48221137T>C,c.2908A>G,p.M970V |
ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) |
g.16:48220951C>T,c.2984G>A,p.R995Q |
ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) |
g.16:48212531C>T,c.3325G>A,p.E1109K |
ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) |
g.16:48209178C>T,c.3689G>A,p.G1230E |
ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) |
g.16:48204843T>A,c.3734A>T,p.Q1245L |
ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) |
g.16:48204130C>T,c.3778-1G>A,p.1260Acceptor |
ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) |
g.16:48204084C>T,c.3823G>A,p.G1275S |
ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) |
g.16:48204078T>A,c.3829A>T,p.N1277Y |
ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) |
g.16:48204045T>G,c.3862A>C,p.I1288L |
ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) |
g.16:48201472C>T,c.3991G>A,p.V1331I |
ABCC11(NM_033151,ATP-binding cassette, sub-family C (CFTR/MRP), member 11,1382aa) |
g.16:48201432T>C,c.4031A>G,p.H1344R |
ABCC10(NM_033450,ATP-binding cassette, sub-family C (CFTR/MRP), member 10,1464aa) |
g.6:43417749C>T,c.4315C>T,p.R1439C |
ABCC10(NM_033450,ATP-binding cassette, sub-family C (CFTR/MRP), member 10,1464aa) |
g.6:43417693G>A,c.4259G>A,p.R1420Q |
ABCC10(NM_033450,ATP-binding cassette, sub-family C (CFTR/MRP), member 10,1464aa) |
g.6:43417235C>T,c.4195C>T,p.R1399C |
ABCC10(NM_033450,ATP-binding cassette, sub-family C (CFTR/MRP), member 10,1464aa) |
g.6:43415549T>C,c.3749T>C,p.I1250T |
ABCC10(NM_033450,ATP-binding cassette, sub-family C (CFTR/MRP), member 10,1464aa) |
g.6:43415482C>T,c.3682C>T,p.R1228W |