NM_020806.5(GPHN):c.800A>G (p.Asn267Ser)
|
rs41285470
|
0.00586
|
NM_020806.5(GPHN):c.2192G>C (p.Ser731Thr)
|
rs142608987
|
0.00078
|
NM_020806.5(GPHN):c.1145-16T>C
|
rs766723067
|
0.00022
|
NM_020806.5(GPHN):c.633A>G (p.Gln211=)
|
rs151322023
|
0.00022
|
NM_020806.5(GPHN):c.1144+9A>G
|
rs200060659
|
0.00021
|
NM_020806.5(GPHN):c.1971A>C (p.Leu657=)
|
rs150799851
|
0.00017
|
NM_020806.5(GPHN):c.1911-7C>T
|
rs201555766
|
0.00016
|
NM_020806.5(GPHN):c.1911-6T>C
|
rs369800026
|
0.00013
|
NM_020806.5(GPHN):c.1173T>C (p.Asp391=)
|
rs147709250
|
0.00009
|
NM_020806.5(GPHN):c.201+11G>A
|
rs369973620
|
0.00009
|
NM_020806.5(GPHN):c.202-16T>A
|
rs556470025
|
0.00009
|
NM_020806.5(GPHN):c.144-10C>T
|
rs199759192
|
0.00008
|
NM_020806.5(GPHN):c.1248C>T (p.Gly416=)
|
rs780211082
|
0.00006
|
NM_020806.5(GPHN):c.1563A>G (p.Val521=)
|
rs779098838
|
0.00006
|
NM_020806.5(GPHN):c.1944T>C (p.Asp648=)
|
rs761997982
|
0.00006
|
NM_020806.5(GPHN):c.65-12A>G
|
rs373821253
|
0.00006
|
NM_020806.5(GPHN):c.964-20A>T
|
rs375968477
|
0.00006
|
NM_020806.5(GPHN):c.144-13C>T
|
rs767891827
|
0.00004
|
NM_020806.5(GPHN):c.156T>C (p.Thr52=)
|
rs778715897
|
0.00004
|
NM_020806.5(GPHN):c.1836+19G>A
|
rs374404298
|
0.00004
|
NM_020806.5(GPHN):c.1857G>C (p.Leu619=)
|
rs976474723
|
0.00004
|
NM_020806.5(GPHN):c.369A>G (p.Thr123=)
|
rs767272331
|
0.00004
|
NM_020806.5(GPHN):c.909G>A (p.Ser303=)
|
rs753770263
|
0.00004
|
NM_020806.5(GPHN):c.1413+12C>A
|
rs755908672
|
0.00003
|
NM_020806.5(GPHN):c.1488C>T (p.Asp496=)
|
rs761670163
|
0.00003
|
NM_020806.5(GPHN):c.225T>C (p.Asp75=)
|
rs768963547
|
0.00003
|
NM_020806.5(GPHN):c.457-6A>G
|
rs768570275
|
0.00003
|
NM_020806.5(GPHN):c.1145-20C>T
|
rs761300504
|
0.00002
|
NM_020806.5(GPHN):c.1293+8T>G
|
rs769473957
|
0.00002
|
NM_020806.5(GPHN):c.1413+13C>T
|
rs777486676
|
0.00002
|
NM_020806.5(GPHN):c.1473-7C>A
|
rs377262106
|
0.00002
|
NM_020806.5(GPHN):c.1716C>T (p.Tyr572=)
|
rs1432243324
|
0.00002
|
NM_020806.5(GPHN):c.201+12C>T
|
rs373068127
|
0.00002
|
NM_020806.5(GPHN):c.2176+17T>G
|
rs371173068
|
0.00002
|
NM_020806.5(GPHN):c.2307A>G (p.Leu769=)
|
rs747068379
|
0.00002
|
NM_020806.5(GPHN):c.564C>G (p.Ser188=)
|
rs772179756
|
0.00002
|
NM_020806.5(GPHN):c.669T>C (p.Gly223=)
|
rs1342866999
|
0.00002
|
NM_020806.5(GPHN):c.730-15T>C
|
rs1452531100
|
0.00002
|
NM_020806.5(GPHN):c.771C>T (p.His257=)
|
rs561779418
|
0.00002
|
NM_020806.5(GPHN):c.1020C>T (p.Val340=)
|
rs763455984
|
0.00001
|
NM_020806.5(GPHN):c.1095A>G (p.Thr365=)
|
rs1255825578
|
0.00001
|
NM_020806.5(GPHN):c.1113G>A (p.Pro371=)
|
rs770812117
|
0.00001
|
NM_020806.5(GPHN):c.1140C>T (p.Tyr380=)
|
rs760356358
|
0.00001
|
NM_020806.5(GPHN):c.1281A>G (p.Gln427=)
|
rs146956552
|
0.00001
|
NM_020806.5(GPHN):c.1293+7T>C
|
rs747784070
|
0.00001
|
NM_020806.5(GPHN):c.1404A>G (p.Glu468=)
|
rs766600914
|
0.00001
|
NM_020806.5(GPHN):c.1441C>T (p.Leu481=)
|
rs753681911
|
0.00001
|
NM_020806.5(GPHN):c.1584T>G (p.Val528=)
|
rs1382914637
|
0.00001
|
NM_020806.5(GPHN):c.1617A>C (p.Thr539=)
|
rs772232370
|
0.00001
|
NM_020806.5(GPHN):c.1722G>A (p.Thr574=)
|
rs774161949
|
0.00001
|
NM_020806.5(GPHN):c.1836+18C>T
|
rs957412039
|
0.00001
|
NM_020806.5(GPHN):c.1910+17G>T
|
rs750327944
|
0.00001
|
NM_020806.5(GPHN):c.1975+19T>C
|
rs751424941
|
0.00001
|
NM_020806.5(GPHN):c.2080-4G>T
|
rs760469629
|
0.00001
|
NM_020806.5(GPHN):c.2124G>A (p.Arg708=)
|
rs761412853
|
0.00001
|
NM_020806.5(GPHN):c.2205C>T (p.Ser735=)
|
rs754213780
|
0.00001
|
NM_020806.5(GPHN):c.2235A>G (p.Leu745=)
|
rs2083293606
|
0.00001
|
NM_020806.5(GPHN):c.2244G>A (p.Lys748=)
|
rs1595521691
|
0.00001
|
NM_020806.5(GPHN):c.2256C>T (p.Tyr752=)
|
rs1443875641
|
0.00001
|
NM_020806.5(GPHN):c.337C>T (p.Leu113=)
|
rs1001485812
|
0.00001
|
NM_020806.5(GPHN):c.357A>T (p.Ser119=)
|
rs1477246900
|
0.00001
|
NM_020806.5(GPHN):c.389+19T>C
|
rs377724622
|
0.00001
|
NM_020806.5(GPHN):c.651A>G (p.Glu217=)
|
rs1009464001
|
0.00001
|
NM_020806.5(GPHN):c.723T>G (p.Ala241=)
|
rs1238342228
|
0.00001
|
NM_020806.5(GPHN):c.72T>C (p.Asp24=)
|
rs777651189
|
0.00001
|
NM_020806.5(GPHN):c.777A>G (p.Glu259=)
|
rs1215169627
|
0.00001
|
NM_020806.5(GPHN):c.813T>C (p.His271=)
|
rs1466356631
|
0.00001
|
NM_020806.5(GPHN):c.936C>T (p.Leu312=)
|
rs746581893
|
0.00001
|
NM_020806.5(GPHN):c.963+7A>T
|
rs1846707271
|
0.00001
|
NM_020806.5(GPHN):c.1006+14C>G
|
|
|
NM_020806.5(GPHN):c.1007-15T>C
|
|
|
NM_020806.5(GPHN):c.1007-6G>A
|
|
|
NM_020806.5(GPHN):c.1014T>C (p.Ser338=)
|
|
|
NM_020806.5(GPHN):c.1035G>A (p.Val345=)
|
|
|
NM_020806.5(GPHN):c.1074T>C (p.Ser358=)
|
|
|
NM_020806.5(GPHN):c.1113G>C (p.Pro371=)
|
|
|
NM_020806.5(GPHN):c.1116G>A (p.Val372=)
|
|
|
NM_020806.5(GPHN):c.1144+19A>G
|
rs755336327
|
|
NM_020806.5(GPHN):c.114T>C (p.Asn38=)
|
|
|
NM_020806.5(GPHN):c.1155G>C (p.Gly385=)
|
|
|
NM_020806.5(GPHN):c.1164T>C (p.Leu388=)
|
rs1595086345
|
|
NM_020806.5(GPHN):c.117C>G (p.Leu39=)
|
rs2153395428
|
|
NM_020806.5(GPHN):c.1182A>C (p.Ala394=)
|
|
|
NM_020806.5(GPHN):c.1191T>C (p.Asn397=)
|
rs535587671
|
|
NM_020806.5(GPHN):c.1200C>T (p.Pro400=)
|
|
|
NM_020806.5(GPHN):c.1203C>T (p.Phe401=)
|
|
|
NM_020806.5(GPHN):c.1233C>G (p.Val411=)
|
|
|
NM_020806.5(GPHN):c.1237+20T>A
|
|
|
NM_020806.5(GPHN):c.1238-11C>T
|
rs2153678694
|
|
NM_020806.5(GPHN):c.1238-14G>C
|
|
|
NM_020806.5(GPHN):c.1238-14G>T
|
|
|
NM_020806.5(GPHN):c.1238-18C>T
|
|
|
NM_020806.5(GPHN):c.1238-7C>G
|
|
|
NM_020806.5(GPHN):c.1272G>A (p.Gly424=)
|
rs1200380965
|
|
NM_020806.5(GPHN):c.1284T>C (p.Ala428=)
|
|
|
NM_020806.5(GPHN):c.12G>A (p.Glu4=)
|
|
|
NM_020806.5(GPHN):c.1305A>G (p.Thr435=)
|
rs2153685260
|
|
NM_020806.5(GPHN):c.1327C>A (p.Arg443=)
|
|
|
NM_020806.5(GPHN):c.1356C>T (p.Cys452=)
|
|
|
NM_020806.5(GPHN):c.1362T>C (p.Ala454=)
|
|
|
NM_020806.5(GPHN):c.1389C>A (p.Thr463=)
|
rs773577927
|
|
NM_020806.5(GPHN):c.1389C>T (p.Thr463=)
|
|
|
NM_020806.5(GPHN):c.1414-10G>C
|
rs1595186662
|
|
NM_020806.5(GPHN):c.1414-13_1414-12insTCGG
|
rs750716077
|
|
NM_020806.5(GPHN):c.1414-4A>G
|
|
|
NM_020806.5(GPHN):c.143+13C>G
|
rs2066914077
|
|
NM_020806.5(GPHN):c.143+9T>C
|
|
|
NM_020806.5(GPHN):c.144-14T>C
|
rs759867988
|
|
NM_020806.5(GPHN):c.144-18T>G
|
|
|
NM_020806.5(GPHN):c.1464A>G (p.Gln488=)
|
|
|
NM_020806.5(GPHN):c.1472+14A>C
|
|
|
NM_020806.5(GPHN):c.1472+18A>G
|
|
|
NM_020806.5(GPHN):c.1472+19G>A
|
|
|
NM_020806.5(GPHN):c.1472+8C>T
|
rs1595187122
|
|
NM_020806.5(GPHN):c.1473-14G>C
|
|
|
NM_020806.5(GPHN):c.1473-17T>C
|
|
|
NM_020806.5(GPHN):c.1479C>T (p.Ile493=)
|
rs764075352
|
|
NM_020806.5(GPHN):c.1482C>G (p.Gly494=)
|
|
|
NM_020806.5(GPHN):c.1527C>T (p.His509=)
|
|
|
NM_020806.5(GPHN):c.1590G>A (p.Lys530=)
|
rs2078473953
|
|
NM_020806.5(GPHN):c.159A>C (p.Ile53=)
|
|
|
NM_020806.5(GPHN):c.1620G>A (p.Gly540=)
|
rs2153686935
|
|
NM_020806.5(GPHN):c.1626+13A>T
|
|
|
NM_020806.5(GPHN):c.1626+17T>G
|
rs1357227453
|
|
NM_020806.5(GPHN):c.1627-13T>C
|
|
|
NM_020806.5(GPHN):c.1627-15T>C
|
|
|
NM_020806.5(GPHN):c.1627-9G>T
|
|
|
NM_020806.5(GPHN):c.165A>G (p.Ala55=)
|
rs753182110
|
|
NM_020806.5(GPHN):c.1668A>T (p.Arg556=)
|
|
|
NM_020806.5(GPHN):c.1686T>C (p.Thr562=)
|
rs1595241496
|
|
NM_020806.5(GPHN):c.1710T>C (p.His570=)
|
|
|
NM_020806.5(GPHN):c.1748+12A>T
|
|
|
NM_020806.5(GPHN):c.1748+14G>A
|
|
|
NM_020806.5(GPHN):c.1748+15T>C
|
rs2079061090
|
|
NM_020806.5(GPHN):c.1748+17A>G
|
|
|
NM_020806.5(GPHN):c.1748+19T>G
|
rs2153692322
|
|
NM_020806.5(GPHN):c.1749-13T>A
|
rs2153704862
|
|
NM_020806.5(GPHN):c.1749-15T>C
|
rs371849325
|
|
NM_020806.5(GPHN):c.1749-16_1749-12del
|
rs2080609035
|
|
NM_020806.5(GPHN):c.1749-17T>C
|
|
|
NM_020806.5(GPHN):c.1749-18_1749-13del
|
|
|
NM_020806.5(GPHN):c.1749-19T>C
|
|
|
NM_020806.5(GPHN):c.1749-7T>C
|
|
|
NM_020806.5(GPHN):c.1759T>C (p.Leu587=)
|
|
|
NM_020806.5(GPHN):c.1764C>G (p.Leu588=)
|
rs2153704885
|
|
NM_020806.5(GPHN):c.1770C>T (p.Ala590=)
|
rs2080612380
|
|
NM_020806.5(GPHN):c.1776T>C (p.Asn592=)
|
|
|
NM_020806.5(GPHN):c.1809A>G (p.Thr603=)
|
|
|
NM_020806.5(GPHN):c.1818T>C (p.Gly606=)
|
|
|
NM_020806.5(GPHN):c.1836+12A>T
|
|
|
NM_020806.5(GPHN):c.1836+18C>G
|
rs957412039
|
|
NM_020806.5(GPHN):c.1836+9G>A
|
|
|
NM_020806.5(GPHN):c.1837-4G>A
|
|
|
NM_020806.5(GPHN):c.1837-8G>A
|
|
|
NM_020806.5(GPHN):c.1837-9T>C
|
|
|
NM_020806.5(GPHN):c.1842T>C (p.Tyr614=)
|
rs2153717711
|
|
NM_020806.5(GPHN):c.1845C>T (p.Leu615=)
|
rs2153717712
|
|
NM_020806.5(GPHN):c.1896T>G (p.Val632=)
|
rs2081834037
|
|
NM_020806.5(GPHN):c.1905A>G (p.Lys635=)
|
rs2153717732
|
|
NM_020806.5(GPHN):c.1908A>T (p.Pro636=)
|
rs2153717736
|
|
NM_020806.5(GPHN):c.1910+11C>A
|
|
|
NM_020806.5(GPHN):c.1910+8A>C
|
rs778997695
|
|
NM_020806.5(GPHN):c.1911-15_1911-14del
|
|
|
NM_020806.5(GPHN):c.1911-18A>G
|
rs2082201850
|
|
NM_020806.5(GPHN):c.1911-4C>T
|
|
|
NM_020806.5(GPHN):c.1911-5T>C
|
rs1595455743
|
|
NM_020806.5(GPHN):c.1912T>C (p.Leu638=)
|
rs2140002386
|
|
NM_020806.5(GPHN):c.1917A>C (p.Pro639=)
|
|
|
NM_020806.5(GPHN):c.1923A>G (p.Thr641=)
|
|
|
NM_020806.5(GPHN):c.1929A>C (p.Ala643=)
|
rs2140002558
|
|
NM_020806.5(GPHN):c.1947T>C (p.Gly649=)
|
|
|
NM_020806.5(GPHN):c.1968A>G (p.Ala656=)
|
|
|
NM_020806.5(GPHN):c.1975+15T>C
|
rs2140003070
|
|
NM_020806.5(GPHN):c.201+17T>G
|
rs373546341
|
|
NM_020806.5(GPHN):c.202-15A>G
|
|
|
NM_020806.5(GPHN):c.202-18A>G
|
|
|
NM_020806.5(GPHN):c.202-20A>G
|
|
|
NM_020806.5(GPHN):c.2080-13C>T
|
|
|
NM_020806.5(GPHN):c.2080-17T>C
|
|
|
NM_020806.5(GPHN):c.2080-4G>A
|
|
|
NM_020806.5(GPHN):c.2080-6_2080-5del
|
|
|
NM_020806.5(GPHN):c.2085A>G (p.Ser695=)
|
|
|
NM_020806.5(GPHN):c.208C>T (p.Leu70=)
|
|
|
NM_020806.5(GPHN):c.2094A>G (p.Val698=)
|
|
|
NM_020806.5(GPHN):c.2109T>C (p.Arg703=)
|
|
|
NM_020806.5(GPHN):c.2118C>T (p.Tyr706=)
|
rs2140195601
|
|
NM_020806.5(GPHN):c.2131C>T (p.Leu711=)
|
|
|
NM_020806.5(GPHN):c.2133A>G (p.Leu711=)
|
|
|
NM_020806.5(GPHN):c.2154A>G (p.Pro718=)
|
rs2140195870
|
|
NM_020806.5(GPHN):c.2176+14A>T
|
|
|
NM_020806.5(GPHN):c.2176+19C>A
|
|
|
NM_020806.5(GPHN):c.2177-19T>A
|
|
|
NM_020806.5(GPHN):c.2197C>T (p.Leu733=)
|
|
|
NM_020806.5(GPHN):c.2227T>C (p.Leu743=)
|
rs1248581157
|
|
NM_020806.5(GPHN):c.2253G>A (p.Gln751=)
|
|
|
NM_020806.5(GPHN):c.2286T>C (p.Asp762=)
|
|
|
NM_020806.5(GPHN):c.255T>A (p.Thr85=)
|
|
|
NM_020806.5(GPHN):c.270T>C (p.Phe90=)
|
|
|
NM_020806.5(GPHN):c.294+13A>C
|
|
|
NM_020806.5(GPHN):c.294+16C>T
|
|
|
NM_020806.5(GPHN):c.295-12C>T
|
|
|
NM_020806.5(GPHN):c.295-14_295-10del
|
|
|
NM_020806.5(GPHN):c.295-19A>C
|
|
|
NM_020806.5(GPHN):c.295-8A>G
|
rs2153533803
|
|
NM_020806.5(GPHN):c.315A>G (p.Glu105=)
|
rs759432514
|
|
NM_020806.5(GPHN):c.327A>G (p.Pro109=)
|
rs1555430196
|
|
NM_020806.5(GPHN):c.357A>G (p.Ser119=)
|
rs1477246900
|
|
NM_020806.5(GPHN):c.389+10T>C
|
|
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NM_020806.5(GPHN):c.389+13C>G
|
rs2153533857
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NM_020806.5(GPHN):c.390-19A>C
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NM_020806.5(GPHN):c.390-19A>G
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NM_020806.5(GPHN):c.390-4T>C
|
rs759324331
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NM_020806.5(GPHN):c.396A>G (p.Val132=)
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NM_020806.5(GPHN):c.417G>A (p.Thr139=)
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NM_020806.5(GPHN):c.423A>C (p.Ile141=)
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NM_020806.5(GPHN):c.429C>T (p.Asn143=)
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NM_020806.5(GPHN):c.42A>G (p.Gln14=)
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NM_020806.5(GPHN):c.456+11T>C
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NM_020806.5(GPHN):c.456+16A>G
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NM_020806.5(GPHN):c.457-15T>G
|
rs966531598
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NM_020806.5(GPHN):c.457-5T>C
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NM_020806.5(GPHN):c.457-7C>A
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NM_020806.5(GPHN):c.468A>G (p.Gln156=)
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NM_020806.5(GPHN):c.484C>T (p.Leu162=)
|
rs2153561455
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NM_020806.5(GPHN):c.486A>C (p.Leu162=)
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NM_020806.5(GPHN):c.495C>T (p.Ala165=)
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NM_020806.5(GPHN):c.501C>T (p.Asp167=)
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NM_020806.5(GPHN):c.516C>T (p.Ala172=)
|
rs2153561468
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NM_020806.5(GPHN):c.537G>A (p.Val179=)
|
rs368771083
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NM_020806.5(GPHN):c.576T>C (p.Pro192=)
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NM_020806.5(GPHN):c.57C>A (p.Val19=)
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NM_020806.5(GPHN):c.582C>G (p.Ser194=)
|
rs142287862
|
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NM_020806.5(GPHN):c.582C>T (p.Ser194=)
|
rs142287862
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NM_020806.5(GPHN):c.585T>G (p.Pro195=)
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NM_020806.5(GPHN):c.597C>T (p.Thr199=)
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NM_020806.5(GPHN):c.603C>G (p.Pro201=)
|
rs2153561509
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NM_020806.5(GPHN):c.60T>A (p.Leu20=)
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|
NM_020806.5(GPHN):c.64+10G>A
|
rs768831916
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NM_020806.5(GPHN):c.64+16G>C
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NM_020806.5(GPHN):c.64+7G>A
|
rs758501355
|
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NM_020806.5(GPHN):c.64+9G>C
|
rs1555369179
|
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NM_020806.5(GPHN):c.645G>A (p.Glu215=)
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|
NM_020806.5(GPHN):c.65-16C>T
|
rs1234425717
|
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NM_020806.5(GPHN):c.65-6A>G
|
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|
NM_020806.5(GPHN):c.65-9del
|
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|
NM_020806.5(GPHN):c.654G>A (p.Glu218=)
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NM_020806.5(GPHN):c.666T>C (p.Ser222=)
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NM_020806.5(GPHN):c.684A>G (p.Glu228=)
|
rs140585415
|
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NM_020806.5(GPHN):c.696A>G (p.Ser232=)
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|
NM_020806.5(GPHN):c.6G>T (p.Ala2=)
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NM_020806.5(GPHN):c.729+13A>C
|
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|
NM_020806.5(GPHN):c.730-15T>A
|
rs1452531100
|
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NM_020806.5(GPHN):c.730-7G>A
|
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|
NM_020806.5(GPHN):c.768A>G (p.Ala256=)
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|
NM_020806.5(GPHN):c.828+14C>G
|
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NM_020806.5(GPHN):c.828+18T>G
|
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|
NM_020806.5(GPHN):c.828+7C>T
|
rs988027321
|
|
NM_020806.5(GPHN):c.828+8_828+9del
|
rs764346460
|
|
NM_020806.5(GPHN):c.829-12C>T
|
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|
NM_020806.5(GPHN):c.829-20T>A
|
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NM_020806.5(GPHN):c.829-20T>C
|
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|
NM_020806.5(GPHN):c.837C>T (p.Asp279=)
|
|
|
NM_020806.5(GPHN):c.867C>G (p.Leu289=)
|
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|
NM_020806.5(GPHN):c.903A>G (p.Ser301=)
|
|
|
NM_020806.5(GPHN):c.963+11T>A
|
rs201592727
|
|
NM_020806.5(GPHN):c.963+18G>A
|
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|
NM_020806.5(GPHN):c.963+18_963+47del
|
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|
NM_020806.5(GPHN):c.963+20A>G
|
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|
NM_020806.5(GPHN):c.964-11T>C
|
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|
NM_020806.5(GPHN):c.964-4A>G
|
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|
NM_020806.5(GPHN):c.975G>A (p.Arg325=)
|
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|
NM_020806.5(GPHN):c.978C>T (p.Cys326=)
|
rs188690745
|
|
NM_020806.5(GPHN):c.9C>T (p.Thr3=)
|
rs2057883967
|
|