NM_001031710.3(KLHL7):c.1051C>T (p.Arg351Ter)
|
rs746612410
|
0.00001
|
NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys)
|
rs780705654
|
0.00001
|
NM_001031710.3(KLHL7):c.565C>T (p.Arg189Ter)
|
rs943339467
|
0.00001
|
NM_001031710.3(KLHL7):c.976C>T (p.Arg326Ter)
|
rs77078070
|
0.00001
|
NM_004750.5(CRLF1):c.531G>A (p.Trp177Ter)
|
rs1976175724
|
0.00001
|
NM_004750.5(CRLF1):c.676dup (p.Thr226fs)
|
rs761746361
|
0.00001
|
NM_001031710.3(KLHL7):c.1022del (p.Leu341fs)
|
rs879255557
|
|
NM_001031710.3(KLHL7):c.1114C>T (p.Arg372Ter)
|
rs769053076
|
|
NM_001031710.3(KLHL7):c.1115G>A (p.Arg372Gln)
|
rs879255558
|
|
NM_001031710.3(KLHL7):c.1261T>A (p.Cys421Ser)
|
rs879255556
|
|
NM_001031710.3(KLHL7):c.178GTT[1] (p.Val61del)
|
rs1554286093
|
|
NM_001031710.3(KLHL7):c.618+1G>A
|
rs1554289078
|
|
NM_001031710.3(KLHL7):c.642G>C (p.Trp214Cys)
|
|
|
NM_001031710.3(KLHL7):c.807C>A (p.Tyr269Ter)
|
rs1784553913
|
|
NM_004750.4(CRLF1):c.[242G>A;1121T>G]
|
|
|
NM_004750.5(CRLF1):c.1102A>T (p.Lys368Ter)
|
rs137853144
|
|
NM_004750.5(CRLF1):c.226T>G (p.Trp76Gly)
|
rs137853143
|
|
NM_004750.5(CRLF1):c.31_53del (p.Gln11fs)
|
rs137853929
|
|
NM_004750.5(CRLF1):c.397+1G>A
|
rs137853932
|
|
NM_004750.5(CRLF1):c.527+5G>A
|
rs748847434
|
|
NM_004750.5(CRLF1):c.708_709delinsT (p.Pro238fs)
|
rs2145329741
|
|
NM_004750.5(CRLF1):c.713del (p.Pro238fs)
|
|
|
NM_004750.5(CRLF1):c.713dup (p.Pro239fs)
|
rs768727082
|
|
NM_004750.5(CRLF1):c.771G>A (p.Trp257Ter)
|
rs1976145478
|
|
NM_004750.5(CRLF1):c.776C>A (p.Ser259Ter)
|
rs1199919814
|
|
NM_004750.5(CRLF1):c.829C>T (p.Arg277Ter)
|
rs137853145
|
|
NM_004750.5(CRLF1):c.845_846del (p.Val282fs)
|
rs137853928
|
|
NM_004750.5(CRLF1):c.857_864del (p.Val286fs)
|
rs367543004
|
|
NM_004750.5(CRLF1):c.983dup (p.Ser328fs)
|
rs1555758035
|
|
NM_004750.5(CRLF1):c.985dup (p.Glu329fs)
|
rs1600650861
|
|
NM_013246.3(CLCF1):c.321C>A (p.Tyr107Ter)
|
rs104894198
|
|
NM_013246.3(CLCF1):c.46T>C (p.Cys16Arg)
|
rs137853934
|
|
NM_013246.3(CLCF1):c.590G>T (p.Arg197Leu)
|
rs104894203
|
|
NM_013246.3(CLCF1):c.676T>C (p.Ter226Arg)
|
rs137853935
|
|