|
NM_024301.5(FKRP):c.822C>G (p.Ile274Met)
|
rs77138370
|
0.00251
|
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
|
NM_024301.5(FKRP):c.904G>A (p.Gly302Ser)
|
rs762283381
|
0.00071
|
|
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)
|
rs199714523
|
0.00048
|
|
NM_024301.5(FKRP):c.898G>A (p.Val300Met)
|
rs563033008
|
0.00031
|
|
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)
|
rs143031195
|
0.00011
|
|
NM_024301.5(FKRP):c.562G>A (p.Ala188Thr)
|
rs746905689
|
0.00006
|
|
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp)
|
rs758759348
|
0.00004
|
|
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys)
|
rs543163491
|
0.00004
|
|
NM_024301.5(FKRP):c.899T>C (p.Val300Ala)
|
rs104894691
|
0.00004
|
|
NM_024301.5(FKRP):c.316C>T (p.Pro106Ser)
|
rs1164727838
|
0.00001
|
|
NM_024301.5(FKRP):c.968G>A (p.Arg323His)
|
rs1349031936
|
0.00001
|
|
NM_024301.5(FKRP):c.976G>A (p.Ala326Thr)
|
rs1201873802
|
0.00001
|
|
NM_024301.5(FKRP):c.10A>G (p.Thr4Ala)
|
|
|
|
NM_024301.5(FKRP):c.1129C>T (p.Gln377Ter)
|
|
|
|
NM_024301.5(FKRP):c.1130_1139del (p.Gln377fs)
|
|
|
|
NM_024301.5(FKRP):c.1136G>C (p.Arg379Pro)
|
rs140217866
|
|
|
NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter)
|
rs104894680
|
|
|
NM_024301.5(FKRP):c.1208dup (p.Arg404fs)
|
|
|
|
NM_024301.5(FKRP):c.1210C>T (p.Arg404Cys)
|
|
|
|
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs)
|
rs886042506
|
|
|
NM_024301.5(FKRP):c.265C>T (p.Pro89Ser)
|
|
|
|
NM_024301.5(FKRP):c.2T>C (p.Met1Thr)
|
|
|
|
NM_024301.5(FKRP):c.501_502delinsCC (p.Arg167_Cys168delinsSerArg)
|
rs2122616718
|
|
|
NM_024301.5(FKRP):c.503G>A (p.Cys168Tyr)
|
rs554813030
|
|
|
NM_024301.5(FKRP):c.540_570dup (p.Cys191fs)
|
rs1311148380
|
|
|
NM_024301.5(FKRP):c.692G>A (p.Trp231Ter)
|
|
|
|
NM_024301.5(FKRP):c.884_885del (p.Arg295fs)
|
|
|
|
NM_024301.5(FKRP):c.899T>A (p.Val300Glu)
|
|
|
|
NM_024301.5(FKRP):c.927C>A (p.Tyr309Ter)
|
|
|
|
NM_024301.5(FKRP):c.934C>G (p.Arg312Gly)
|
|
|
|
NM_024301.5(FKRP):c.949del (p.Cys317fs)
|
|
|
|
NM_024301.5(FKRP):c.984del (p.Arg327_Tyr328insTer)
|
|
|