NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter)
|
rs138994150
|
0.00103
|
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.406G>A (p.Gly136Arg)
|
rs797045222
|
0.00003
|
NM_006412.4(AGPAT2):c.492+1G>A
|
rs933422777
|
0.00003
|
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_001122955.4(BSCL2):c.985C>T (p.Arg329Ter)
|
rs587777606
|
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.299G>A (p.Ser100Asn)
|
rs764260414
|
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.1006-2A>G
|
rs879254029
|
|
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.402C>G (p.Tyr134Ter)
|
rs557044760
|
|
NM_001122955.4(BSCL2):c.404+1G>T
|
rs1565152616
|
|
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.759_760del (p.Asn254fs)
|
rs1565144681
|
|
NM_001122955.4(BSCL2):c.766-2A>G
|
rs1013079991
|
|
NM_001122955.4(BSCL2):c.776C>T (p.Thr259Ile)
|
rs1565144468
|
|
NM_001122955.4(BSCL2):c.828del (p.Tyr277fs)
|
rs758843908
|
|
NM_001122955.4(BSCL2):c.844_854del (p.Ala282fs)
|
rs1064797076
|
|
NM_001122955.4(BSCL2):c.863+5G>A
|
rs786205072
|
|
NM_001122955.4(BSCL2):c.864-3C>G
|
rs786205073
|
|
NM_001122955.4(BSCL2):c.942dup (p.Leu315fs)
|
rs1554983076
|
|
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs)
|
rs749890533
|
|
NM_001753.5(CAV1):c.237_238del (p.His79fs)
|
|
|
NM_001753.5(CAV1):c.424C>T (p.Gln142Ter)
|
rs797045176
|
|
NM_001753.5(CAV1):c.479_480del (p.Leu159_Phe160insTer)
|
rs797044871
|
|
NM_006412.3(AGPAT2):c.(316+1_317-1)_(588+1_589-1)del (p.Leu107AlafsTer279)
|
|
|
NM_006412.4(AGPAT2):c.313A>G (p.Met105Val)
|
rs2119186288
|
|
NM_006412.4(AGPAT2):c.316+1G>T
|
|
|
NM_006412.4(AGPAT2):c.366_588+534del
|
|
|
NM_006412.4(AGPAT2):c.369_372del (p.Leu124fs)
|
rs1693228350
|
|
NM_006412.4(AGPAT2):c.38T>A (p.Leu13Ter)
|
rs2131023956
|
|
NM_006412.4(AGPAT2):c.415TTC[1] (p.Phe140del)
|
rs387906356
|
|
NM_006412.4(AGPAT2):c.503G>A (p.Trp168Ter)
|
rs1057518714
|
|
NM_006412.4(AGPAT2):c.513del (p.Glu172fs)
|
rs1564290914
|
|
NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys)
|
rs748157664
|
|
NM_006412.4(AGPAT2):c.622_626del (p.Ser208fs)
|
rs1564290079
|
|
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
|
|