NM_005373.3(MPL):c.79+2T>A
|
rs146249964
|
0.00018
|
NM_000127.3(EXT1):c.452C>A (p.Ala151Glu)
|
rs1385688129
|
0.00001
|
NM_005373.3(MPL):c.1309-1G>T
|
rs1243113655
|
0.00001
|
NM_005373.3(MPL):c.1566-1G>A
|
rs1570474015
|
0.00001
|
NM_005373.3(MPL):c.311T>C (p.Phe104Ser)
|
rs1196161699
|
0.00001
|
NM_005373.3(MPL):c.981-1G>C
|
rs769297582
|
0.00001
|
NM_207122.2(EXT2):c.1305+2T>C
|
rs202153611
|
0.00001
|
NM_207122.2(EXT2):c.863A>G (p.Asn288Ser)
|
rs745738318
|
0.00001
|
NC_000008.10:g.(?_118831895)_(118834856_?)del
|
|
|
NM_000127.3(EXT1):c.1021A>T (p.Arg341Trp)
|
rs1554580149
|
|
NM_000127.3(EXT1):c.1038A>C (p.Arg346Ser)
|
|
|
NM_000127.3(EXT1):c.1057-3C>G
|
|
|
NM_000127.3(EXT1):c.1064_1065delinsAT (p.Cys355Tyr)
|
|
|
NM_000127.3(EXT1):c.1070C>G (p.Pro357Arg)
|
rs1131691337
|
|
NM_000127.3(EXT1):c.1165-2A>G
|
|
|
NM_000127.3(EXT1):c.1417+2dup
|
|
|
NM_000127.3(EXT1):c.1880A>G (p.His627Arg)
|
|
|
NM_000127.3(EXT1):c.458T>C (p.Leu153Pro)
|
rs1817879832
|
|
NM_000127.3(EXT1):c.572T>C (p.Leu191Ser)
|
rs1563659467
|
|
NM_000127.3(EXT1):c.608A>C (p.Tyr203Ser)
|
rs1817876107
|
|
NM_000127.3(EXT1):c.659G>A (p.Ser220Asn)
|
|
|
NM_000127.3(EXT1):c.934T>C (p.Cys312Arg)
|
rs1817867776
|
|
NM_004364.5(CEBPA):c.890G>C (p.Arg297Pro)
|
rs1600021258
|
|
NM_005373.3(MPL):c.1165+1G>C
|
rs775550081
|
|
NM_005373.3(MPL):c.1166-1G>C
|
rs2153918730
|
|
NM_005373.3(MPL):c.1305G>C (p.Trp435Cys)
|
|
|
NM_005373.3(MPL):c.1308+2T>G
|
|
|
NM_005373.3(MPL):c.1468+1G>A
|
|
|
NM_005373.3(MPL):c.1468+2T>C
|
rs1057517761
|
|
NM_005373.3(MPL):c.1469-1G>T
|
rs771729218
|
|
NM_005373.3(MPL):c.1469-2A>T
|
|
|
NM_005373.3(MPL):c.212+1G>A
|
rs142565191
|
|
NM_005373.3(MPL):c.213-1G>A
|
|
|
NM_005373.3(MPL):c.305G>A (p.Arg102His)
|
rs28928907
|
|
NM_005373.3(MPL):c.407C>A (p.Pro136His)
|
rs764904424
|
|
NM_005373.3(MPL):c.690+2T>A
|
rs2153916885
|
|
NM_005373.3(MPL):c.690+2T>C
|
|
|
NM_005373.3(MPL):c.79+1G>A
|
|
|
NM_005373.3(MPL):c.79+1G>T
|
rs1647004958
|
|
NM_005373.3(MPL):c.854-1G>A
|
|
|
NM_005373.3(MPL):c.980+2T>A
|
rs1647023010
|
|
NM_207122.2(EXT2):c.1489_1495+12del
|
|
|
NM_207122.2(EXT2):c.1662+1G>C
|
|
|
NM_207122.2(EXT2):c.1663-1G>A
|
|
|
NM_207122.2(EXT2):c.1823A>G (p.Tyr608Cys)
|
rs1590667793
|
|
NM_207122.2(EXT2):c.1935+1G>T
|
|
|
NM_207122.2(EXT2):c.398T>G (p.Leu133Arg)
|
|
|
NM_207122.2(EXT2):c.680A>T (p.Asp227Val)
|
rs2134984829
|
|