NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)
|
rs150591260
|
0.00057
|
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln)
|
rs119103219
|
0.00014
|
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met)
|
rs376289130
|
0.00011
|
NM_020166.5(MCCC1):c.872C>T (p.Ala291Val)
|
rs201041864
|
0.00011
|
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)
|
rs757052602
|
0.00011
|
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg)
|
rs119103212
|
0.00006
|
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter)
|
rs544349961
|
0.00005
|
NM_020166.5(MCCC1):c.1526del (p.Cys509fs)
|
rs727504002
|
0.00003
|
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter)
|
rs905321122
|
0.00003
|
NM_020166.5(MCCC1):c.137-2A>G
|
rs727504006
|
0.00002
|
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer)
|
rs119103217
|
0.00002
|
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter)
|
rs185741664
|
0.00002
|
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp)
|
rs141030969
|
0.00002
|
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr)
|
rs773774134
|
0.00002
|
NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter)
|
rs1484347924
|
0.00001
|
NM_020166.5(MCCC1):c.639+2T>A
|
rs199914879
|
0.00001
|
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly)
|
rs746500530
|
0.00001
|
NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter)
|
rs750484977
|
0.00001
|
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln)
|
rs119103220
|
0.00001
|
NM_022132.5(MCCC2):c.592C>T (p.Gln198Ter)
|
rs764286389
|
0.00001
|
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr)
|
rs119103226
|
0.00001
|
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter)
|
rs727504010
|
0.00001
|
NM_020166.5(MCCC1):c.1074del (p.Trp358fs)
|
rs398124350
|
|
NM_020166.5(MCCC1):c.1193_1194del (p.Val398fs)
|
rs796051985
|
|
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs)
|
rs762463137
|
|
NM_020166.5(MCCC1):c.1378-2A>G
|
|
|
NM_020166.5(MCCC1):c.1541dup (p.Leu515fs)
|
|
|
NM_020166.5(MCCC1):c.1679dup (p.Asn560fs)
|
rs1394547323
|
|
NM_020166.5(MCCC1):c.1750C>T (p.Gln584Ter)
|
|
|
NM_020166.5(MCCC1):c.1882G>T (p.Glu628Ter)
|
|
|
NM_020166.5(MCCC1):c.2088dup (p.Val697fs)
|
rs746267545
|
|
NM_020166.5(MCCC1):c.558del (p.Gln186fs)
|
rs1212517901
|
|
NM_020166.5(MCCC1):c.640_641delGG
|
rs886058209
|
|
NM_020166.5(MCCC1):c.673C>T (p.Gln225Ter)
|
rs779412317
|
|
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter)
|
rs150862707
|
|
NM_022132.5(MCCC2):c.100C>T (p.Gln34Ter)
|
|
|
NM_022132.5(MCCC2):c.1144_1147inv (p.Lys382_Lys383delinsPheTer)
|
|
|
NM_022132.5(MCCC2):c.384-2A>G
|
rs1745476784
|
|
NM_022132.5(MCCC2):c.512-1G>A
|
rs1282502867
|
|
NM_022132.5(MCCC2):c.517dup (p.Ser173fs)
|
rs587776533
|
|
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter)
|
rs780011606
|
|
NM_022132.5(MCCC2):c.735dup (p.Val247fs)
|
rs770769655
|
|