|
NM_001376013.1(EPB41):c.640G>A (p.Val214Ile)
|
rs111642750
|
0.02894
|
|
NM_001376013.1(EPB41):c.2314-19G>C
|
rs41266199
|
0.00973
|
|
NM_001376013.1(EPB41):c.1464-20T>C
|
rs139715164
|
0.00835
|
|
NM_001376013.1(EPB41):c.2019G>A (p.Lys673=)
|
rs79677225
|
0.00718
|
|
NM_001376013.1(EPB41):c.24G>A (p.Val8=)
|
rs75060926
|
0.00648
|
|
NM_001376013.1(EPB41):c.1700G>A (p.Gly567Asp)
|
rs138888144
|
0.00496
|
|
NM_001376013.1(EPB41):c.871C>T (p.Pro291Ser)
|
rs142874233
|
0.00467
|
|
NM_001376013.1(EPB41):c.120A>G (p.Gln40=)
|
rs146663694
|
0.00086
|
|
NM_001376013.1(EPB41):c.2229C>T (p.Ala743=)
|
rs117306261
|
0.00015
|
|
NM_001376013.1(EPB41):c.1187A>G (p.Tyr396Cys)
|
rs201227668
|
0.00006
|
|
NM_001376013.1(EPB41):c.2047G>C (p.Ala683Pro)
|
rs199764020
|
0.00005
|
|
NM_001376013.1(EPB41):c.1670G>A (p.Arg557Gln)
|
rs201952060
|
0.00004
|
|
NM_001376013.1(EPB41):c.2184+36G>A
|
rs760095510
|
0.00004
|
|
NM_001376013.1(EPB41):c.1505C>T (p.Ala502Val)
|
rs745905322
|
0.00001
|
|
NM_001376013.1(EPB41):c.1944+1G>C
|
rs1477424620
|
0.00001
|
|
NM_001376013.1(EPB41):c.2021G>A (p.Ser674Asn)
|
rs1302220038
|
0.00001
|
|
NM_001376013.1(EPB41):c.1039G>A (p.Val347Met)
|
|
|
|
NM_001376013.1(EPB41):c.1102A>G (p.Met368Val)
|
rs2096603473
|
|
|
NM_001376013.1(EPB41):c.1175del (p.Lys392fs)
|
rs2150273700
|
|
|
NM_001376013.1(EPB41):c.1330dup (p.Arg444fs)
|
|
|
|
NM_001376013.1(EPB41):c.1354C>T (p.Arg452Trp)
|
|
|
|
NM_001376013.1(EPB41):c.1412G>A (p.Arg471Gln)
|
|
|
|
NM_001376013.1(EPB41):c.1441G>A (p.Val481Ile)
|
|
|
|
NM_001376013.1(EPB41):c.1604C>T (p.Ala535Val)
|
|
|
|
NM_001376013.1(EPB41):c.1660C>T (p.Arg554Ter)
|
|
|
|
NM_001376013.1(EPB41):c.172G>A (p.Gly58Arg)
|
|
|
|
NM_001376013.1(EPB41):c.1744dup (p.Thr582fs)
|
rs2150754040
|
|
|
NM_001376013.1(EPB41):c.1800C>T (p.Asp600=)
|
|
|
|
NM_001376013.1(EPB41):c.1838C>A (p.Ala613Glu)
|
|
|
|
NM_001376013.1(EPB41):c.1930A>G (p.Ile644Val)
|
|
|
|
NM_001376013.1(EPB41):c.2065A>T (p.Lys689Ter)
|
rs2151005632
|
|
|
NM_001376013.1(EPB41):c.2085_2089del (p.Val696fs)
|
|
|
|
NM_001376013.1(EPB41):c.2240A>G (p.Lys747Arg)
|
|
|
|
NM_001376013.1(EPB41):c.2269A>G (p.Ile757Val)
|
|
|
|
NM_001376013.1(EPB41):c.2285C>T (p.Thr762Ile)
|
|
|
|
NM_001376013.1(EPB41):c.2328T>C (p.Ser776=)
|
|
|
|
NM_001376013.1(EPB41):c.2438A>G (p.Glu813Gly)
|
|
|
|
NM_001376013.1(EPB41):c.2444G>A (p.Arg815His)
|
|
|
|
NM_001376013.1(EPB41):c.2536C>G (p.Pro846Ala)
|
|
|
|
NM_001376013.1(EPB41):c.2566C>T (p.His856Tyr)
|
|
|
|
NM_001376013.1(EPB41):c.2577C>T (p.Thr859=)
|
rs536178
|
|
|
NM_001376013.1(EPB41):c.263A>G (p.Lys88Arg)
|
|
|
|
NM_001376013.1(EPB41):c.353T>A (p.Phe118Tyr)
|
|
|
|
NM_001376013.1(EPB41):c.415C>T (p.Leu139Phe)
|
|
|
|
NM_001376013.1(EPB41):c.426C>T (p.Asp142=)
|
rs2149522654
|
|
|
NM_001376013.1(EPB41):c.629T>C (p.Met210Thr)
|
rs121434564
|
|
|
NM_001376013.1(EPB41):c.629T>G (p.Met210Arg)
|
rs121434564
|
|
|
NM_001376013.1(EPB41):c.712C>T (p.Arg238Ter)
|
rs1160118901
|
|
|
NM_001376013.1(EPB41):c.731A>G (p.Asn244Ser)
|
|
|
|
NM_001376013.1(EPB41):c.763A>G (p.Ile255Val)
|
|
|
|
NM_001376013.1(EPB41):c.768G>A (p.Trp256Ter)
|
|
|
|
NM_001376013.1(EPB41):c.776C>T (p.Ala259Val)
|
rs2149686920
|
|
|
NM_001376013.1(EPB41):c.832G>A (p.Val278Ile)
|
|
|
|
NM_001376013.1(EPB41):c.938T>C (p.Ile313Thr)
|
|
|
|
NM_001376013.1(EPB41):c.979T>A (p.Leu327Ile)
|
|
|
|
NM_004437.3(EPB41):c.1219_1458del
|
|
|
|
NM_004437.3(EPB41):c.1219_1587del
|
|
|
|
NM_203342.2(EPB41):c.-159_159del
|
|
|