NM_004247.4(EFTUD2):c.1059-31T>C
|
rs2120276
|
0.63264
|
NM_004247.4(EFTUD2):c.426+8G>A
|
rs2289677
|
0.62345
|
NM_004247.4(EFTUD2):c.994+6C>T
|
rs11654183
|
0.26275
|
NM_004247.4(EFTUD2):c.762T>C (p.Thr254=)
|
rs2289674
|
0.20662
|
NM_004247.4(EFTUD2):c.1058+3_1058+7del
|
rs536749831
|
0.00538
|
NM_004247.4(EFTUD2):c.106-17C>T
|
rs190562796
|
0.00020
|
NM_004247.4(EFTUD2):c.1933C>T (p.Arg645Trp)
|
rs1230495188
|
0.00001
|
NM_004247.4(EFTUD2):c.1994C>T (p.Thr665Met)
|
rs2050571775
|
0.00001
|
GRCh37/hg19 17q21.31(chr17:42929777-42937911)
|
|
|
NM_004247.4(EFTUD2):c.1033G>A (p.Gly345Ser)
|
|
|
NM_004247.4(EFTUD2):c.1058+1G>A
|
rs1085307647
|
|
NM_004247.4(EFTUD2):c.106-1G>C
|
rs2051181820
|
|
NM_004247.4(EFTUD2):c.1060C>T (p.Arg354Ter)
|
rs996949678
|
|
NM_004247.4(EFTUD2):c.1117A>G (p.Ile373Val)
|
|
|
NM_004247.4(EFTUD2):c.1137G>C (p.Lys379Asn)
|
|
|
NM_004247.4(EFTUD2):c.1149+1G>C
|
rs797045550
|
|
NM_004247.4(EFTUD2):c.1177C>G (p.Pro393Ala)
|
|
|
NM_004247.4(EFTUD2):c.121G>T (p.Asp41Tyr)
|
|
|
NM_004247.4(EFTUD2):c.1286-2A>G
|
rs2145474253
|
|
NM_004247.4(EFTUD2):c.1286-2del
|
|
|
NM_004247.4(EFTUD2):c.1297_1298del (p.Met433fs)
|
rs797045551
|
|
NM_004247.4(EFTUD2):c.1331del (p.Gly444fs)
|
rs2050697632
|
|
NM_004247.4(EFTUD2):c.1332del (p.Ala445fs)
|
|
|
NM_004247.4(EFTUD2):c.1414-2A>G
|
rs1597797917
|
|
NM_004247.4(EFTUD2):c.1421del (p.Leu474fs)
|
|
|
NM_004247.4(EFTUD2):c.1425G>C (p.Met475Ile)
|
rs2050683099
|
|
NM_004247.4(EFTUD2):c.1542C>A (p.Tyr514Ter)
|
rs749855263
|
|
NM_004247.4(EFTUD2):c.1567del (p.Gln523fs)
|
rs1555565774
|
|
NM_004247.4(EFTUD2):c.1585C>T (p.Arg529Cys)
|
rs376157050
|
|
NM_004247.4(EFTUD2):c.1607+3A>G
|
rs2145469964
|
|
NM_004247.4(EFTUD2):c.1627C>T (p.Arg543Cys)
|
|
|
NM_004247.4(EFTUD2):c.1649T>A (p.Val550Asp)
|
rs2145461096
|
|
NM_004247.4(EFTUD2):c.1655T>C (p.Ile552Thr)
|
|
|
NM_004247.4(EFTUD2):c.1705C>T (p.Arg569Ter)
|
|
|
NM_004247.4(EFTUD2):c.1719+1G>A
|
rs2145460853
|
|
NM_004247.4(EFTUD2):c.1732C>T (p.Arg578Ter)
|
rs1057520673
|
|
NM_004247.4(EFTUD2):c.1742del (p.Lys581fs)
|
rs1597795170
|
|
NM_004247.4(EFTUD2):c.1759_1760del (p.Val587fs)
|
rs879253725
|
|
NM_004247.4(EFTUD2):c.1775_1779del (p.Val592fs)
|
rs1135401812
|
|
NM_004247.4(EFTUD2):c.1783G>T (p.Val595Phe)
|
|
|
NM_004247.4(EFTUD2):c.1832A>G (p.Asn611Ser)
|
|
|
NM_004247.4(EFTUD2):c.1861-9_1861-7del
|
rs2050611350
|
|
NM_004247.4(EFTUD2):c.1904T>A (p.Leu635His)
|
rs2145455460
|
|
NM_004247.4(EFTUD2):c.1904dup (p.Tyr636fs)
|
|
|
NM_004247.4(EFTUD2):c.1910T>G (p.Leu637Arg)
|
rs387906879
|
|
NM_004247.4(EFTUD2):c.1946C>G (p.Ser649Ter)
|
rs2145455322
|
|
NM_004247.4(EFTUD2):c.1957A>C (p.Ile653Leu)
|
rs2050609262
|
|
NM_004247.4(EFTUD2):c.2023_2026dup (p.Ala676fs)
|
|
|
NM_004247.4(EFTUD2):c.2033C>T (p.Thr678Met)
|
rs781402078
|
|
NM_004247.4(EFTUD2):c.2045+2T>G
|
rs863224868
|
|
NM_004247.4(EFTUD2):c.2126G>A (p.Trp709Ter)
|
|
|
NM_004247.4(EFTUD2):c.2133-2A>G
|
|
|
NM_004247.4(EFTUD2):c.2166C>A (p.Tyr722Ter)
|
rs1240441464
|
|
NM_004247.4(EFTUD2):c.2198G>A (p.Trp733Ter)
|
rs1555564341
|
|
NM_004247.4(EFTUD2):c.2199G>A (p.Trp733Ter)
|
rs2145438293
|
|
NM_004247.4(EFTUD2):c.2309T>C (p.Phe770Ser)
|
|
|
NM_004247.4(EFTUD2):c.2335C>T (p.Leu779Phe)
|
rs1597789186
|
|
NM_004247.4(EFTUD2):c.2338T>C (p.Cys780Arg)
|
|
|
NM_004247.4(EFTUD2):c.2438G>A (p.Arg813Lys)
|
rs1567728359
|
|
NM_004247.4(EFTUD2):c.2493C>A (p.Tyr831Ter)
|
rs879253726
|
|
NM_004247.4(EFTUD2):c.2496C>G (p.Tyr832Ter)
|
rs879253727
|
|
NM_004247.4(EFTUD2):c.2551del (p.Ala851fs)
|
rs1555564126
|
|
NM_004247.4(EFTUD2):c.2562-2_2562-1del
|
rs2050474390
|
|
NM_004247.4(EFTUD2):c.2562-2del
|
rs2145431661
|
|
NM_004247.4(EFTUD2):c.2600del (p.Pro867fs)
|
rs2050473924
|
|
NM_004247.4(EFTUD2):c.2643_2649del (p.Phe881fs)
|
|
|
NM_004247.4(EFTUD2):c.2678dup (p.Gln894fs)
|
|
|
NM_004247.4(EFTUD2):c.2698_2701del (p.Val900fs)
|
rs886039349
|
|
NM_004247.4(EFTUD2):c.2770C>T (p.Gln924Ter)
|
rs387906878
|
|
NM_004247.4(EFTUD2):c.2823+1del
|
rs879253728
|
|
NM_004247.4(EFTUD2):c.294A>T (p.Lys98Asn)
|
rs2051147769
|
|
NM_004247.4(EFTUD2):c.334dup (p.Thr112fs)
|
|
|
NM_004247.4(EFTUD2):c.351-2A>G
|
|
|
NM_004247.4(EFTUD2):c.378del (p.Glu127fs)
|
rs2051113996
|
|
NM_004247.4(EFTUD2):c.3G>T (p.Met1Ile)
|
|
|
NM_004247.4(EFTUD2):c.423del (p.Lys142fs)
|
|
|
NM_004247.4(EFTUD2):c.426+1dup
|
|
|
NM_004247.4(EFTUD2):c.509_519del (p.Ile170fs)
|
|
|
NM_004247.4(EFTUD2):c.593dup (p.Tyr198Ter)
|
|
|
NM_004247.4(EFTUD2):c.623A>G (p.His208Arg)
|
rs397515431
|
|
NM_004247.4(EFTUD2):c.63A>T (p.Glu21Asp)
|
rs2051340680
|
|
NM_004247.4(EFTUD2):c.670G>A (p.Gly224Arg)
|
|
|
NM_004247.4(EFTUD2):c.698A>G (p.Glu233Gly)
|
rs2145532453
|
|
NM_004247.4(EFTUD2):c.702+2T>C
|
|
|
NM_004247.4(EFTUD2):c.702+3_702+4delinsAG
|
|
|
NM_004247.4(EFTUD2):c.702G>T (p.Gly234=)
|
rs2051032338
|
|
NM_004247.4(EFTUD2):c.719_720del (p.Glu240fs)
|
|
|
NM_004247.4(EFTUD2):c.722G>A (p.Arg241Gln)
|
|
|
NM_004247.4(EFTUD2):c.764dup (p.Cys256fs)
|
rs794729651
|
|
NM_004247.4(EFTUD2):c.766_767del (p.Cys256fs)
|
|
|
NM_004247.4(EFTUD2):c.784C>T (p.Arg262Trp)
|
rs387906877
|
|
NM_004247.4(EFTUD2):c.793del (p.Leu265fs)
|
|
|
NM_004247.4(EFTUD2):c.828C>A (p.Tyr276Ter)
|
|
|
NM_004247.4(EFTUD2):c.870-1G>T
|
rs2145503914
|
|
NM_004247.4(EFTUD2):c.870-5_870-4del
|
rs2145503920
|
|
NM_004247.4(EFTUD2):c.882del (p.Asp295fs)
|
rs1597807512
|
|
NM_004247.4:c.(350+1_351-1)_(492+1_493-1)del
|
|
|