NM_001352514.2(HLCS):c.331-6927G>A
|
rs2845822
|
0.86978
|
NM_000411.8(HLCS):c.-393+9107C>T
|
rs8130102
|
0.83233
|
NM_001352514.2(HLCS):c.1437+197G>A
|
rs2835539
|
0.59935
|
NM_001352514.2(HLCS):c.1893-46G>T
|
rs2073421
|
0.59296
|
NM_001352514.2(HLCS):c.195+79G>C
|
rs1055700
|
0.59285
|
NM_001352514.2(HLCS):c.195+93G>A
|
rs1055699
|
0.59269
|
NM_001352514.2(HLCS):c.2237-66T>G
|
rs2845804
|
0.55285
|
NM_001352514.2(HLCS):c.1438-150C>T
|
rs2282501
|
0.55245
|
NM_001352514.2(HLCS):c.1438-36G>A
|
rs2073425
|
0.55169
|
NM_001352514.2(HLCS):c.331-8712G>C
|
rs13047776
|
0.48187
|
NM_001352514.2(HLCS):c.331-8713A>C
|
rs13048613
|
0.48187
|
NM_001352514.2(HLCS):c.2236+159C>T
|
rs2073419
|
0.43086
|
NM_001352514.2(HLCS):c.2122-30G>A
|
rs2073420
|
0.40931
|
NM_000411.8(HLCS):c.-393+9186_-393+9189dup
|
rs71328533
|
0.37503
|
NM_001352514.2(HLCS):c.1892+301C>T
|
rs1009778
|
0.35369
|
NM_001352514.2(HLCS):c.2450+287C>T
|
rs9636905
|
0.30271
|
NM_001352514.2(HLCS):c.1961-124G>A
|
rs2835454
|
0.12854
|
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=)
|
rs1065758
|
0.11920
|
NM_001352514.2(HLCS):c.*259T>C
|
rs73398122
|
0.06633
|
NM_001352514.2(HLCS):c.2450+287_2450+288del
|
rs58695786
|
0.06420
|
NM_001352514.2(HLCS):c.2236+180A>G
|
rs2073418
|
0.06199
|
NM_001352514.2(HLCS):c.2450+275G>A
|
rs186604557
|
0.05641
|
NM_001352514.2(HLCS):c.2450+271G>A
|
rs371198062
|
0.05130
|
NM_001352514.2(HLCS):c.494-241A>G
|
rs117383985
|
0.04290
|
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile)
|
rs61732502
|
0.04059
|
NM_001352514.2(HLCS):c.1620+90G>C
|
rs73905407
|
0.03998
|
NM_001352514.2(HLCS):c.2450+113G>A
|
rs58201045
|
0.03988
|
NM_001352514.2(HLCS):c.494-80A>G
|
rs73904770
|
0.03960
|
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp)
|
rs61732504
|
0.03941
|
NM_001352514.2(HLCS):c.1893-243C>T
|
rs73210783
|
0.03676
|
NM_001352514.2(HLCS):c.331-9266G>A
|
rs149650105
|
0.02721
|
NM_001352514.2(HLCS):c.*40A>G
|
rs77014096
|
0.02028
|
NM_001352514.2(HLCS):c.2122-107C>T
|
rs74993434
|
0.01462
|
NM_001352514.2(HLCS):c.493+170G>C
|
rs111843214
|
0.01432
|
NM_001352514.2(HLCS):c.2122-330A>G
|
rs114539568
|
0.01357
|
NM_001352514.2(HLCS):c.330+88A>G
|
rs7281145
|
0.01292
|
NM_001352514.2(HLCS):c.2450+267_2450+268insTA
|
rs373220213
|
0.01211
|
NM_001352514.2(HLCS):c.331-7111G>A
|
rs77067023
|
0.01191
|
NM_001352514.2(HLCS):c.1438-271T>C
|
rs115523996
|
0.01068
|
NM_001352514.2(HLCS):c.2236+303G>A
|
rs116222192
|
0.01023
|
NM_001352514.2(HLCS):c.196-149G>A
|
rs76330918
|
0.01003
|
NM_001352514.2(HLCS):c.1893-279A>C
|
rs113804566
|
0.00992
|
NM_001352514.2(HLCS):c.2122-35G>A
|
rs148845011
|
0.00916
|
NM_001352514.2(HLCS):c.1960+200C>T
|
rs146004582
|
0.00912
|
NM_001352514.2(HLCS):c.1438-149G>A
|
rs7283538
|
0.00723
|
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg)
|
rs75867009
|
0.00642
|
NM_001352514.2(HLCS):c.2451-46G>A
|
rs8133818
|
0.00626
|
NM_001352514.2(HLCS):c.1438-89T>A
|
rs561053531
|
0.00549
|
NM_001352514.2(HLCS):c.1437+331T>G
|
rs185741425
|
0.00536
|
NM_001352514.2(HLCS):c.2450+97G>A
|
rs565221424
|
0.00480
|
NM_001352514.2(HLCS):c.330+317G>A
|
rs188634060
|
0.00463
|
NM_001352514.2(HLCS):c.2450+277G>A
|
rs549306707
|
0.00454
|
NM_001352514.2(HLCS):c.330+44C>G
|
rs185222469
|
0.00454
|
NM_000411.8(HLCS):c.-393+9462C>T
|
rs529768803
|
0.00414
|
NM_001352514.2(HLCS):c.2362G>A (p.Val788Met)
|
rs150665851
|
0.00392
|
NM_001352514.2(HLCS):c.1620+53A>G
|
rs115593113
|
0.00368
|
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=)
|
rs116114362
|
0.00352
|
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys)
|
rs149736764
|
0.00315
|
NM_001352514.2(HLCS):c.1893-6C>T
|
rs139904712
|
0.00313
|
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=)
|
rs116985497
|
0.00235
|
NM_001352514.2(HLCS):c.900G>A (p.Arg300=)
|
rs146019354
|
0.00232
|
NM_001352514.2(HLCS):c.914C>T (p.Thr305Met)
|
rs112176097
|
0.00191
|
NM_001352514.2(HLCS):c.1617G>A (p.Ala539=)
|
rs111603166
|
0.00164
|
NM_001352514.2(HLCS):c.331-7170T>A
|
rs181989786
|
0.00091
|
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=)
|
rs138209330
|
0.00087
|
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile)
|
rs149291867
|
0.00087
|
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln)
|
rs146030669
|
0.00074
|
NM_001352514.2(HLCS):c.1347G>C (p.Arg449Ser)
|
rs142621386
|
0.00043
|
NM_001352514.2(HLCS):c.1390G>T (p.Val464Leu)
|
rs144705277
|
0.00043
|
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln)
|
rs147474255
|
0.00018
|
NM_001352514.2(HLCS):c.1330C>T (p.Arg444Trp)
|
rs139902499
|
0.00013
|
NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys)
|
rs200453837
|
0.00012
|
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)
|
rs767533946
|
0.00009
|
NM_001352514.2(HLCS):c.2500G>A (p.Val834Ile)
|
rs145648338
|
0.00007
|
NM_001352514.2(HLCS):c.1068G>A (p.Pro356=)
|
rs73196003
|
0.00006
|
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn)
|
rs149399432
|
0.00004
|
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=)
|
rs532108774
|
0.00004
|
NM_001352514.2(HLCS):c.574C>G (p.Pro192Ala)
|
rs200950813
|
0.00004
|
NM_001352514.2(HLCS):c.918A>G (p.Gly306=)
|
rs767988985
|
0.00004
|
NM_001352514.2(HLCS):c.1960+5G>A
|
rs753887925
|
0.00003
|
NM_001352514.2(HLCS):c.2332T>G (p.Leu778Val)
|
rs199517800
|
0.00003
|
NM_001352514.2(HLCS):c.2036C>A (p.Ser679Tyr)
|
rs777373322
|
0.00002
|
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter)
|
rs772791252
|
0.00002
|
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)
|
rs119103228
|
0.00002
|
NM_001352514.2(HLCS):c.445G>A (p.Glu149Lys)
|
rs148981273
|
0.00001
|
NM_001352514.2(HLCS):c.529A>G (p.Lys177Glu)
|
rs759396333
|
0.00001
|
NM_001352514.2(HLCS):c.570G>A (p.Pro190=)
|
rs780666266
|
0.00001
|
NM_001352514.2(HLCS):c.840C>T (p.Tyr280=)
|
rs779907293
|
0.00001
|
NM_001352514.2(HLCS):c.849C>G (p.Ser283Arg)
|
rs750202558
|
0.00001
|
NM_001352514.2(HLCS):c.926C>T (p.Pro309Leu)
|
rs771688112
|
0.00001
|
GRCh37/hg19 21q22.13(chr21:38216327-38311768)x1
|
|
|
NM_001352514.2(HLCS):c.*272C>T
|
rs76983917
|
|
NM_001352514.2(HLCS):c.*7_*9del
|
rs201681436
|
|
NM_001352514.2(HLCS):c.1093G>T (p.Val365Phe)
|
rs1569216588
|
|
NM_001352514.2(HLCS):c.1158G>T (p.Gln386His)
|
|
|
NM_001352514.2(HLCS):c.1223del (p.Gly408fs)
|
rs771944310
|
|
NM_001352514.2(HLCS):c.1233C>G (p.His411Gln)
|
rs1601802008
|
|
NM_001352514.2(HLCS):c.130C>G (p.Gln44Glu)
|
|
|
NM_001352514.2(HLCS):c.1620+7del
|
rs140568778
|
|
NM_001352514.2(HLCS):c.1621-13_1621-10del
|
rs377641674
|
|
NM_001352514.2(HLCS):c.1621-149G>A
|
rs143993094
|
|
NM_001352514.2(HLCS):c.165C>A (p.Gly55=)
|
|
|
NM_001352514.2(HLCS):c.1856C>G (p.Ala619Gly)
|
rs767190021
|
|
NM_001352514.2(HLCS):c.1960+117A>T
|
rs2835455
|
|
NM_001352514.2(HLCS):c.1961-179_1961-178del
|
rs149558077
|
|
NM_001352514.2(HLCS):c.1970G>A (p.Gly657Glu)
|
rs139216349
|
|
NM_001352514.2(HLCS):c.2065C>T (p.Gln689Ter)
|
rs794727957
|
|
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)
|
rs119103231
|
|
NM_001352514.2(HLCS):c.2091G>A (p.Val697=)
|
rs773627772
|
|
NM_001352514.2(HLCS):c.2121+59_2121+61del
|
rs113222966
|
|
NM_001352514.2(HLCS):c.2333del (p.Pro777_Leu778insTer)
|
rs796051978
|
|
NM_001352514.2(HLCS):c.2446C>T (p.His816Tyr)
|
rs878852989
|
|
NM_001352514.2(HLCS):c.2450+136C>T
|
rs9977769
|
|
NM_001352514.2(HLCS):c.2450+254dup
|
rs35509622
|
|
NM_001352514.2(HLCS):c.2450+276T>C
|
rs187818323
|
|
NM_001352514.2(HLCS):c.2494T>C (p.Ser832Pro)
|
rs1568956511
|
|
NM_001352514.2(HLCS):c.330+65_330+71dup
|
rs58618927
|
|
NM_001352514.2(HLCS):c.330+65dup
|
rs58618927
|
|
NM_001352514.2(HLCS):c.331-8454C>T
|
rs3827190
|
|
NM_001352514.2(HLCS):c.331-8750dup
|
rs149344751
|
|
NM_001352514.2(HLCS):c.331-9297C>T
|
rs981348627
|
|
NM_001352514.2(HLCS):c.331-9298del
|
rs35458660
|
|
NM_001352514.2(HLCS):c.331-9299_331-9298del
|
rs35458660
|
|
NM_001352514.2(HLCS):c.569_585delinsTTGCTTGAGATTAAGCCTGAGATTAAGG (p.Pro190_Ser195delinsLeuAlaTer)
|
rs1064796014
|
|
NM_001352514.2(HLCS):c.95C>T (p.Ser32Leu)
|
rs911599606
|
|