NM_006412.4(AGPAT2):c.589-2A>G
|
rs116807569
|
0.00043
|
NM_006412.4(AGPAT2):c.377dup (p.Pro128fs)
|
rs387906355
|
0.00008
|
NM_006412.4(AGPAT2):c.570C>A (p.Tyr190Ter)
|
rs121908926
|
0.00002
|
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs)
|
rs786205071
|
0.00001
|
NM_001122955.4(BSCL2):c.604C>T (p.Arg202Ter)
|
rs137852970
|
0.00001
|
NM_001122955.4(BSCL2):c.757G>T (p.Glu253Ter)
|
rs137852975
|
0.00001
|
NM_001122955.4(BSCL2):c.826G>C (p.Ala276Pro)
|
rs137852971
|
0.00001
|
NM_001753.5(CAV1):c.112G>T (p.Glu38Ter)
|
rs121434501
|
0.00001
|
NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter)
|
rs104894093
|
0.00001
|
NM_006412.4(AGPAT2):c.493-1G>C
|
rs606231168
|
0.00001
|
NM_012232.6(CAVIN1):c.362dup (p.Lys122fs)
|
rs1489315815
|
0.00001
|
BSCL2, 258-BP DEL/12-BP INS
|
|
|
NM_001122955.4(BSCL2):c.1015C>T (p.Arg339Ter)
|
rs137852974
|
|
NM_001122955.4(BSCL2):c.384_385delinsGGA (p.Ser128fs)
|
rs786205068
|
|
NM_001122955.4(BSCL2):c.493_494insAA (p.Met165fs)
|
rs786205069
|
|
NM_001122955.4(BSCL2):c.507_508del (p.Tyr170fs)
|
rs786205070
|
|
NM_001122955.4(BSCL2):c.509_513del (p.Tyr170fs)
|
rs587777608
|
|
NM_001122955.4(BSCL2):c.630+1G>A
|
rs1945400235
|
|
NM_001122955.4(BSCL2):c.828del (p.Tyr277fs)
|
rs758843908
|
|
NM_001122955.4(BSCL2):c.863+5G>A
|
rs786205072
|
|
NM_001122955.4(BSCL2):c.864-3C>G
|
rs786205073
|
|
NM_001312673.2(PCYT1A):c.424G>A (p.Val142Met)
|
|
|
NM_001312673.2(PCYT1A):c.835GAG[1] (p.Glu280del)
|
rs771425372
|
|
NM_001312673.2(PCYT1A):c.996del (p.Ser333fs)
|
rs757164118
|
|
NM_001753.5(CAV1):c.237_238del (p.His79fs)
|
|
|
NM_006412.4(AGPAT2):c.316+1G>T
|
|
|
NM_006412.4(AGPAT2):c.366_588+534del
|
|
|
NM_006412.4(AGPAT2):c.415TTC[1] (p.Phe140del)
|
rs387906356
|
|
NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys)
|
rs748157664
|
|
NM_006412.4(AGPAT2):c.643A>T (p.Lys215Ter)
|
rs121908925
|
|
NM_006412.4(AGPAT2):c.683T>C (p.Leu228Pro)
|
rs104894100
|
|
NM_006412.4(AGPAT2):c.685G>T (p.Glu229Ter)
|
rs1255380257
|
|
NM_012232.6(CAVIN1):c.135del (p.Lys45fs)
|
rs1567782493
|
|
NM_012232.6(CAVIN1):c.160del (p.Val54fs)
|
rs1567782465
|
|
NM_012232.6(CAVIN1):c.259C>T (p.Gln87Ter)
|
|
|
NM_012232.6(CAVIN1):c.471+1G>T
|
rs866504928
|
|
NM_012232.6(CAVIN1):c.478_481dup (p.Lys161fs)
|
rs1567776514
|
|
NM_012232.6(CAVIN1):c.518_521del (p.Lys173fs)
|
rs1207466199
|
|
NM_012232.6(CAVIN1):c.526del (p.Glu176fs)
|
rs1567776490
|
|
NM_012232.6(CAVIN1):c.696dup (p.Lys233fs)
|
rs1427062799
|
|