NM_001042475.3(CEP85L):c.1020+5170C>T
|
rs537800022
|
0.00231
|
NM_001042475.3(CEP85L):c.1020+5206G>A
|
rs146145000
|
0.00195
|
NM_001042475.3(CEP85L):c.1020+17159G>A
|
rs150080760
|
0.00167
|
NM_001042475.3(CEP85L):c.1020+6663G>A
|
rs189611501
|
0.00073
|
NM_002667.5(PLN):c.27C>T (p.Arg9=)
|
rs145623013
|
0.00051
|
NM_001042475.3(CEP85L):c.1020+6199A>G
|
rs79199092
|
0.00038
|
NM_001042475.3(CEP85L):c.1020+6034A>G
|
rs117280667
|
0.00032
|
NM_001042475.3(CEP85L):c.1020+17275G>C
|
rs188578681
|
0.00029
|
NM_001042475.3(CEP85L):c.1020+5442A>T
|
rs528466147
|
0.00011
|
NM_001042475.3(CEP85L):c.1020+5351A>G
|
rs185945888
|
0.00008
|
NM_001042475.3(CEP85L):c.1020+6369A>G
|
rs565692601
|
0.00007
|
NM_001042475.3(CEP85L):c.1020+5269T>C
|
rs540046916
|
0.00006
|
NM_001042475.3(CEP85L):c.1020+5127G>A
|
rs904745767
|
0.00004
|
NM_001042475.3(CEP85L):c.1020+5250A>G
|
rs893609535
|
0.00004
|
NM_001042475.3(CEP85L):c.1020+5558G>A
|
rs886061004
|
0.00004
|
NM_001042475.3(CEP85L):c.1020+6172T>C
|
rs768837853
|
0.00004
|
NM_001042475.3(CEP85L):c.1020+6297C>T
|
rs1200877355
|
0.00004
|
NM_001042475.3(CEP85L):c.1020+6709A>G
|
rs751500735
|
0.00004
|
NM_002667.5(PLN):c.145G>A (p.Val49Met)
|
rs749962743
|
0.00004
|
NM_001042475.3(CEP85L):c.1020+5224G>A
|
rs886061007
|
0.00003
|
NM_001042475.3(CEP85L):c.1020+5314G>A
|
rs886061005
|
0.00003
|
NM_001042475.3(CEP85L):c.1020+5437T>A
|
rs183097878
|
0.00003
|
NM_002667.5(PLN):c.41G>T (p.Arg14Ile)
|
rs151112761
|
0.00003
|
NM_002667.5(PLN):c.53T>C (p.Ile18Thr)
|
rs1029766634
|
0.00003
|
NM_001042475.3(CEP85L):c.1020+5868G>A
|
rs886061001
|
0.00002
|
NM_002667.5(PLN):c.34A>G (p.Ile12Val)
|
rs749571694
|
0.00002
|
NM_002667.5(PLN):c.36A>G (p.Ile12Met)
|
rs774556120
|
0.00002
|
NM_001042475.3(CEP85L):c.1020+17181A>T
|
rs779232815
|
0.00001
|
NM_001042475.3(CEP85L):c.1020+17347A>G
|
rs1230141633
|
0.00001
|
NM_001042475.3(CEP85L):c.1020+5277A>G
|
rs886061006
|
0.00001
|
NM_001042475.3(CEP85L):c.1020+5379A>T
|
rs562026339
|
0.00001
|
NM_001042475.3(CEP85L):c.1020+5572A>G
|
rs886061003
|
0.00001
|
NM_002667.5(PLN):c.141C>G (p.Ile47Met)
|
rs552078051
|
0.00001
|
NM_002667.5(PLN):c.61C>A (p.Pro21Thr)
|
rs397516786
|
0.00001
|
NM_002667.5(PLN):c.74G>A (p.Arg25His)
|
rs1004405095
|
0.00001
|
NC_000006.11:g.(?_118868442)_(118882587_?)dup
|
|
|
NC_000006.11:g.(?_118869224)_(118880253_?)dup
|
|
|
NC_000006.11:g.(?_118869382)_(118880263_?)dup
|
|
|
NC_000006.11:g.(?_118879986)_(118880253_?)dup
|
|
|
NC_000006.11:g.(?_118880085)_(118880243_?)dup
|
|
|
NM_001042475.3(CEP85L):c.1020+17310T>C
|
rs920627366
|
|
NM_001042475.3(CEP85L):c.1020+17353T>C
|
rs1778321580
|
|
NM_001042475.3(CEP85L):c.1020+5546C>T
|
rs1779128355
|
|
NM_001042475.3(CEP85L):c.1020+6359C>T
|
rs886060998
|
|
NM_002667.4(PLN):c.-97-?_*1344+?dup1600
|
|
|
NM_002667.5(PLN):c.113T>C (p.Ile38Thr)
|
rs1554219862
|
|
NM_002667.5(PLN):c.121T>A (p.Cys41Ser)
|
|
|
NM_002667.5(PLN):c.124C>A (p.Leu42Ile)
|
rs2114970183
|
|
NM_002667.5(PLN):c.126_127del (p.Leu43fs)
|
|
|
NM_002667.5(PLN):c.129G>C (p.Leu43Phe)
|
|
|
NM_002667.5(PLN):c.131T>C (p.Leu44Pro)
|
rs794729210
|
|
NM_002667.5(PLN):c.132_152dup (p.Ile45_Leu51dup)
|
rs1554219865
|
|
NM_002667.5(PLN):c.136T>C (p.Cys46Arg)
|
|
|
NM_002667.5(PLN):c.143T>G (p.Ile48Ser)
|
|
|
NM_002667.5(PLN):c.145_158del (p.Val49fs)
|
|
|
NM_002667.5(PLN):c.149T>C (p.Met50Thr)
|
rs1779076744
|
|
NM_002667.5(PLN):c.151C>A (p.Leu51Ile)
|
rs766452369
|
|
NM_002667.5(PLN):c.152T>C (p.Leu51Pro)
|
rs397516783
|
|
NM_002667.5(PLN):c.154C>A (p.Leu52Ile)
|
rs2114970391
|
|
NM_002667.5(PLN):c.16T>C (p.Tyr6His)
|
|
|
NM_002667.5(PLN):c.22A>C (p.Thr8Pro)
|
rs1060502977
|
|
NM_002667.5(PLN):c.29C>T (p.Ser10Leu)
|
rs1554219846
|
|
NM_002667.5(PLN):c.31G>A (p.Ala11Thr)
|
rs2114969616
|
|
NM_002667.5(PLN):c.31G>C (p.Ala11Pro)
|
|
|
NM_002667.5(PLN):c.35T>C (p.Ile12Thr)
|
|
|
NM_002667.5(PLN):c.56A>G (p.Glu19Gly)
|
rs2114969791
|
|
NM_002667.5(PLN):c.73C>G (p.Arg25Gly)
|
rs761056344
|
|
NM_002667.5(PLN):c.79A>G (p.Lys27Glu)
|
rs2114969956
|
|
NM_002667.5(PLN):c.90T>C (p.Asn30=)
|
rs868301643
|
|
NM_002667.5(PLN):c.94T>C (p.Phe32Leu)
|
|
|