NM_001077350.3(NPRL3):c.1545-19A>G
|
rs743725
|
0.74458
|
NM_001077350.3(NPRL3):c.1567C>T (p.Arg523Cys)
|
rs189283988
|
0.00006
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NM_001077350.3(NPRL3):c.1593C>T (p.Tyr531=)
|
rs200669192
|
0.00005
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NM_001077350.3(NPRL3):c.1678G>T (p.Val560Phe)
|
rs752181668
|
0.00005
|
NM_001077350.3(NPRL3):c.1562G>A (p.Arg521His)
|
rs758488510
|
0.00003
|
NM_001077350.3(NPRL3):c.1643G>A (p.Arg548His)
|
rs367598130
|
0.00003
|
NM_001077350.3(NPRL3):c.1668C>T (p.His556=)
|
rs370315887
|
0.00003
|
NM_001077350.3(NPRL3):c.1707_1708del (p.Ter570SerextTer?)
|
rs756232589
|
0.00003
|
NM_001077350.3(NPRL3):c.1625T>C (p.Met542Thr)
|
rs185556688
|
0.00002
|
NM_001077350.3(NPRL3):c.1561C>T (p.Arg521Cys)
|
rs1305476231
|
0.00001
|
NM_001077350.3(NPRL3):c.1563C>T (p.Arg521=)
|
rs1369887915
|
0.00001
|
NM_001077350.3(NPRL3):c.1564G>A (p.Gly522Ser)
|
rs752985390
|
0.00001
|
NM_001077350.3(NPRL3):c.1595A>G (p.Asn532Ser)
|
rs371517875
|
0.00001
|
NM_001077350.3(NPRL3):c.1596C>T (p.Asn532=)
|
rs763597112
|
0.00001
|
NM_001077350.3(NPRL3):c.1605G>A (p.Thr535=)
|
rs775180844
|
0.00001
|
NM_001077350.3(NPRL3):c.1623C>T (p.Leu541=)
|
rs1381874761
|
0.00001
|
NM_001077350.3(NPRL3):c.1647C>T (p.Ser549=)
|
rs1191944943
|
0.00001
|
NM_001077350.3(NPRL3):c.1669G>A (p.Glu557Lys)
|
rs764005661
|
0.00001
|
NM_001077350.3(NPRL3):c.1677T>C (p.Pro559=)
|
rs1216277325
|
0.00001
|
NM_001077350.3(NPRL3):c.1687G>A (p.Val563Ile)
|
rs764756422
|
0.00001
|
NC_000016.10:g.(?_138130)_(138287_?)del
|
|
|
NC_000016.10:g.(?_86685)_(86890_?)del
|
|
|
NC_000016.10:g.(?_86685)_(86890_?)dup
|
|
|
NC_000016.10:g.(?_89693)_(100529_?)del
|
|
|
NC_000016.9:g.(180591_188148)_(188672_?)del
|
|
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NC_000016.9:g.(?_136684)_(139920_?)dup
|
|
|
NC_000016.9:g.(?_136684)_(143343_?)del
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|
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NC_000016.9:g.(?_136684)_(160624_?)dup
|
|
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NC_000016.9:g.(?_136684)_(162794_?)del
|
|
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NC_000016.9:g.(?_136684)_(169274_?)del
|
|
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NC_000016.9:g.(?_136684)_(188286_?)del
|
|
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NC_000016.9:g.(?_136684)_(188286_?)dup
|
|
|
NC_000016.9:g.(?_136704)_(136889_?)del
|
|
|
NC_000016.9:g.(?_136704)_(139920_?)dup
|
|
|
NC_000016.9:g.(?_136705)_(139740_?)del
|
|
|
NC_000016.9:g.(?_138677)_(143343_?)del
|
|
|
NC_000016.9:g.(?_138677)_(188266_?)dup
|
|
|
NC_000016.9:g.(?_138677)_(188286_?)del
|
|
|
NC_000016.9:g.(?_139774)_(159866_?)del
|
|
|
NC_000016.9:g.(?_142574)_(150527_?)del
|
|
|
NC_000016.9:g.(?_142584)_(188266_?)del
|
|
|
NC_000016.9:g.(?_143197)_(150527_?)del
|
|
|
NC_000016.9:g.(?_143302)_(152085_?)del
|
|
|
NC_000016.9:g.(?_148123)_(167394_?)dup
|
|
|
NC_000016.9:g.(?_148123)_(169274_?)dup
|
|
|
NC_000016.9:g.(?_148123)_(188266_?)dup
|
|
|
NC_000016.9:g.(?_148123)_(188286_?)del
|
|
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NC_000016.9:g.(?_148123)_(193701_?)dup
|
|
|
NC_000016.9:g.(?_148133)_(188266_?)del
|
|
|
NC_000016.9:g.(?_148291)_(178264_?)dup
|
|
|
NC_000016.9:g.(?_150350)_(150527_?)dup
|
|
|
NC_000016.9:g.(?_150350)_(169274_?)dup
|
|
|
NC_000016.9:g.(?_150360)_(150517_?)del
|
|
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NC_000016.9:g.(?_150360)_(150517_?)dup
|
|
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NC_000016.9:g.(?_150360)_(169264_?)dup
|
|
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NC_000016.9:g.(?_160503)_(160624_?)del
|
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NC_000016.9:g.(?_160503)_(162794_?)del
|
|
|
NC_000016.9:g.(?_160503)_(169274_?)del
|
|
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NC_000016.9:g.(?_160503)_(169274_?)dup
|
|
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NC_000016.9:g.(?_160503)_(180610_?)del
|
|
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NC_000016.9:g.(?_160503)_(188266_?)del
|
|
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NC_000016.9:g.(?_160503)_(188266_?)dup
|
|
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NC_000016.9:g.(?_160503)_(188286_?)dup
|
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NC_000016.9:g.(?_160503)_(193701_?)dup
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NC_000016.9:g.(?_160513)_(180600_?)del
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NC_000016.9:g.(?_160513)_(188266_?)dup
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NC_000016.9:g.(?_162601)_(162794_?)del
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NC_000016.9:g.(?_162601)_(188266_?)del
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NC_000016.9:g.(?_162601)_(188266_?)dup
|
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NC_000016.9:g.(?_167280)_(193701_?)dup
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NC_000016.9:g.(?_167290)_(188266_?)del
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NC_000016.9:g.(?_169105)_(188266_?)del
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|
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NC_000016.9:g.(?_169115)_(169264_?)del
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NC_000016.9:g.(?_180501)_(188266_?)dup
|
|
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NC_000016.9:g.(?_180501)_(193701_?)dup
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|
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NC_000016.9:g.(?_188129)_(188266_?)del
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|
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NC_000016.9:g.(?_188129)_(193701_?)del
|
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NM_001039476.1(NPRL3):c.931=
|
|
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NM_001077350.3(NPRL3):c.1545-15A>T
|
|
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NM_001077350.3(NPRL3):c.1545-20C>T
|
|
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NM_001077350.3(NPRL3):c.1545-20_1545-19inv
|
|
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NM_001077350.3(NPRL3):c.1545G>A (p.Arg515=)
|
rs2141895127
|
|
NM_001077350.3(NPRL3):c.1548C>A (p.Leu516=)
|
rs558200249
|
|
NM_001077350.3(NPRL3):c.1548C>T (p.Leu516=)
|
|
|
NM_001077350.3(NPRL3):c.1557C>G (p.Tyr519Ter)
|
rs2141895094
|
|
NM_001077350.3(NPRL3):c.1558T>C (p.Phe520Leu)
|
|
|
NM_001077350.3(NPRL3):c.1559dup (p.Arg521fs)
|
rs2141895084
|
|
NM_001077350.3(NPRL3):c.1561del (p.Arg521fs)
|
rs1596492194
|
|
NM_001077350.3(NPRL3):c.1563C>A (p.Arg521=)
|
|
|
NM_001077350.3(NPRL3):c.1565del (p.Gly522fs)
|
|
|
NM_001077350.3(NPRL3):c.1567C>A (p.Arg523Ser)
|
rs189283988
|
|
NM_001077350.3(NPRL3):c.1567del (p.Arg523fs)
|
|
|
NM_001077350.3(NPRL3):c.1574A>T (p.His525Leu)
|
rs1898496064
|
|
NM_001077350.3(NPRL3):c.1576C>T (p.Leu526=)
|
|
|
NM_001077350.3(NPRL3):c.1579GAG[1] (p.Glu528del)
|
rs2141894975
|
|
NM_001077350.3(NPRL3):c.1583A>G (p.Glu528Gly)
|
|
|
NM_001077350.3(NPRL3):c.1586T>G (p.Ile529Ser)
|
|
|
NM_001077350.3(NPRL3):c.1589T>C (p.Met530Thr)
|
rs1453118437
|
|
NM_001077350.3(NPRL3):c.1590G>C (p.Met530Ile)
|
rs2141894953
|
|
NM_001077350.3(NPRL3):c.1597G>A (p.Glu533Lys)
|
|
|
NM_001077350.3(NPRL3):c.1597G>C (p.Glu533Gln)
|
|
|
NM_001077350.3(NPRL3):c.1604C>T (p.Thr535Met)
|
|
|
NM_001077350.3(NPRL3):c.1609C>T (p.Arg537Cys)
|
|
|
NM_001077350.3(NPRL3):c.1609_1610delinsTC (p.Arg537Ser)
|
|
|
NM_001077350.3(NPRL3):c.1610G>A (p.Arg537His)
|
rs771288626
|
|
NM_001077350.3(NPRL3):c.1618_1629del (p.Leu540_Leu543del)
|
rs2141894817
|
|
NM_001077350.3(NPRL3):c.1628T>C (p.Leu543Pro)
|
rs2141894824
|
|
NM_001077350.3(NPRL3):c.1642C>T (p.Arg548Cys)
|
|
|
NM_001077350.3(NPRL3):c.1643G>T (p.Arg548Leu)
|
|
|
NM_001077350.3(NPRL3):c.1645A>G (p.Ser549Gly)
|
rs537555038
|
|
NM_001077350.3(NPRL3):c.1647C>A (p.Ser549Arg)
|
rs1191944943
|
|
NM_001077350.3(NPRL3):c.1647C>G (p.Ser549Arg)
|
|
|
NM_001077350.3(NPRL3):c.1648G>A (p.Val550Met)
|
rs188724206
|
|
NM_001077350.3(NPRL3):c.1648G>C (p.Val550Leu)
|
rs188724206
|
|
NM_001077350.3(NPRL3):c.1648G>T (p.Val550Leu)
|
rs188724206
|
|
NM_001077350.3(NPRL3):c.1654del (p.Val552fs)
|
|
|
NM_001077350.3(NPRL3):c.1656G>A (p.Val552=)
|
rs2141894722
|
|
NM_001077350.3(NPRL3):c.1662C>T (p.Thr554=)
|
rs2141894717
|
|
NM_001077350.3(NPRL3):c.1666del (p.His556fs)
|
rs2141894715
|
|
NM_001077350.3(NPRL3):c.1667A>C (p.His556Pro)
|
rs1898489910
|
|
NM_001077350.3(NPRL3):c.1673A>G (p.Asp558Gly)
|
|
|
NM_001077350.3(NPRL3):c.1682T>C (p.Ile561Thr)
|
rs1898488842
|
|
NM_001077350.3(NPRL3):c.1686C>T (p.Ala562=)
|
|
|
NM_001077350.3(NPRL3):c.1699C>G (p.Leu567Val)
|
|
|
NM_001077350.3(NPRL3):c.1701G>C (p.Leu567=)
|
|
|
NM_001077350.3(NPRL3):c.1708T>C (p.Ter570Arg)
|
|
|
NM_001077350.3:c.(118+1_119-1)_(188+1_189-1)del
|
|
|
NM_001077350.3:c.(767+1_768-1)_(924+1_925-1)del
|
|
|