NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro)
|
rs61735272
|
0.00126
|
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile)
|
rs183130427
|
0.00108
|
NM_001134363.3(RBM20):c.1602C>T (p.Asp534=)
|
rs76048624
|
0.00102
|
NM_001134363.3(RBM20):c.529A>T (p.Thr177Ser)
|
rs397516621
|
0.00051
|
NM_001134363.3(RBM20):c.1057G>A (p.Glu353Lys)
|
rs554690506
|
0.00031
|
NM_001134363.3(RBM20):c.1807G>A (p.Gly603Arg)
|
rs558674954
|
0.00025
|
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg)
|
rs201148126
|
0.00025
|
NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser)
|
rs200271618
|
0.00024
|
NM_001134363.3(RBM20):c.773C>T (p.Ser258Leu)
|
rs749285793
|
0.00020
|
NM_001134363.3(RBM20):c.925G>A (p.Gly309Arg)
|
rs397516625
|
0.00019
|
NM_001134363.3(RBM20):c.1816G>A (p.Val606Met)
|
rs727505067
|
0.00018
|
NM_001134363.3(RBM20):c.1455A>G (p.Ser485=)
|
rs751559376
|
0.00016
|
NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser)
|
rs730880182
|
0.00016
|
NM_001134363.3(RBM20):c.2042A>G (p.Tyr681Cys)
|
rs372048968
|
0.00016
|
NM_001134363.3(RBM20):c.2547T>A (p.Asn849Lys)
|
rs562882648
|
0.00016
|
NM_001134363.3(RBM20):c.2551G>A (p.Ala851Thr)
|
rs376071070
|
0.00016
|
NM_001134363.3(RBM20):c.1633G>A (p.Val545Ile)
|
rs397516596
|
0.00014
|
NM_001134363.3(RBM20):c.1958C>T (p.Thr653Ile)
|
rs727505310
|
0.00014
|
NM_001134363.3(RBM20):c.2393C>T (p.Pro798Leu)
|
rs730880184
|
0.00014
|
NM_001134363.3(RBM20):c.3512C>T (p.Thr1171Met)
|
rs371181124
|
0.00014
|
NM_001134363.3(RBM20):c.1129G>A (p.Gly377Ser)
|
rs923358109
|
0.00013
|
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr)
|
rs112226602
|
0.00012
|
NM_001134363.3(RBM20):c.3044C>T (p.Thr1015Ile)
|
rs183770014
|
0.00011
|
NM_001134363.3(RBM20):c.544C>A (p.Pro182Thr)
|
rs397516622
|
0.00011
|
NM_001134363.3(RBM20):c.2761A>G (p.Ile921Val)
|
rs397516608
|
0.00010
|
NM_001134363.3(RBM20):c.304C>T (p.Arg102Trp)
|
rs794729160
|
0.00010
|
NM_001134363.3(RBM20):c.3595G>A (p.Glu1199Lys)
|
rs777768807
|
0.00009
|
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln)
|
rs375798246
|
0.00008
|
NM_001134363.3(RBM20):c.3616G>A (p.Glu1206Lys)
|
rs757389650
|
0.00008
|
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=)
|
rs187423999
|
0.00008
|
NM_001134363.3(RBM20):c.1024C>A (p.Pro342Thr)
|
rs876657971
|
0.00007
|
NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr)
|
rs373797219
|
0.00007
|
NM_001134363.3(RBM20):c.2359G>A (p.Glu787Lys)
|
rs886038886
|
0.00006
|
NM_001134363.3(RBM20):c.3268A>T (p.Ile1090Phe)
|
rs371828469
|
0.00006
|
NM_001134363.3(RBM20):c.3478G>A (p.Gly1160Ser)
|
rs374611807
|
0.00006
|
NM_001134363.3(RBM20):c.1093G>A (p.Gly365Arg)
|
rs201047984
|
0.00005
|
NM_001134363.3(RBM20):c.2017C>T (p.Arg673Trp)
|
rs397516599
|
0.00005
|
NM_001134363.3(RBM20):c.1186G>T (p.Ala396Ser)
|
rs1160693970
|
0.00004
|
NM_001134363.3(RBM20):c.1244G>A (p.Ser415Asn)
|
rs748133931
|
0.00004
|
NM_001134363.3(RBM20):c.1814C>T (p.Ala605Val)
|
rs754805893
|
0.00004
|
NM_001134363.3(RBM20):c.2200C>T (p.Arg734Trp)
|
rs199972578
|
0.00004
|
NM_001134363.3(RBM20):c.224C>T (p.Ser75Leu)
|
rs191342808
|
0.00004
|
NM_001134363.3(RBM20):c.2357A>G (p.Asp786Gly)
|
rs561904103
|
0.00004
|
NM_001134363.3(RBM20):c.2518G>A (p.Asp840Asn)
|
rs1029261119
|
0.00004
|
NM_001134363.3(RBM20):c.305G>A (p.Arg102Gln)
|
rs886046699
|
0.00004
|
NM_001134363.3(RBM20):c.3344C>T (p.Ser1115Phe)
|
rs769531546
|
0.00004
|
NM_001134363.3(RBM20):c.3574-6C>G
|
rs762069628
|
0.00004
|
NM_001134363.3(RBM20):c.42C>G (p.Ser14Arg)
|
rs541043583
|
0.00004
|
NM_001134363.3(RBM20):c.613C>A (p.Gln205Lys)
|
rs779777625
|
0.00004
|
NM_001134363.3(RBM20):c.1867C>T (p.Arg623Trp)
|
rs794729148
|
0.00003
|
NM_001134363.3(RBM20):c.1920C>A (p.Ser640Arg)
|
rs1439106449
|
0.00003
|
NM_001134363.3(RBM20):c.2231A>G (p.Asn744Ser)
|
rs755241667
|
0.00003
|
NM_001134363.3(RBM20):c.2905G>A (p.Val969Ile)
|
rs369747752
|
0.00003
|
NM_001134363.3(RBM20):c.3023G>C (p.Arg1008Pro)
|
rs886038858
|
0.00003
|
NM_001134363.3(RBM20):c.3169C>T (p.Arg1057Trp)
|
rs199830512
|
0.00003
|
NM_001134363.3(RBM20):c.3271G>A (p.Glu1091Lys)
|
rs565524160
|
0.00003
|
NM_001134363.3(RBM20):c.3314C>T (p.Pro1105Leu)
|
rs1241224023
|
0.00003
|
NM_001134363.3(RBM20):c.901G>C (p.Ala301Pro)
|
rs1064796938
|
0.00003
|
NM_001134363.3(RBM20):c.1748G>A (p.Gly583Asp)
|
rs767827357
|
0.00002
|
NM_001134363.3(RBM20):c.1820C>T (p.Ala607Val)
|
rs947755400
|
0.00002
|
NM_001134363.3(RBM20):c.2338G>A (p.Gly780Arg)
|
rs750988872
|
0.00002
|
NM_001134363.3(RBM20):c.2572G>A (p.Gly858Ser)
|
rs1361625543
|
0.00002
|
NM_001134363.3(RBM20):c.2764G>A (p.Val922Met)
|
rs947100716
|
0.00002
|
NM_001134363.3(RBM20):c.2968A>G (p.Ser990Gly)
|
rs1353948871
|
0.00002
|
NM_001134363.3(RBM20):c.2986G>T (p.Asp996Tyr)
|
rs794729155
|
0.00002
|
NM_001134363.3(RBM20):c.3046G>A (p.Gly1016Ser)
|
rs794729156
|
0.00002
|
NM_001134363.3(RBM20):c.3463G>A (p.Val1155Met)
|
rs1473408518
|
0.00002
|
NM_001134363.3(RBM20):c.3464T>C (p.Val1155Ala)
|
rs794729158
|
0.00002
|
NM_001134363.3(RBM20):c.3550G>A (p.Ala1184Thr)
|
rs1300657058
|
0.00002
|
NM_001134363.3(RBM20):c.5T>C (p.Val2Ala)
|
rs996172004
|
0.00002
|
NM_001134363.3(RBM20):c.1040A>G (p.Tyr347Cys)
|
rs794729142
|
0.00001
|
NM_001134363.3(RBM20):c.1063C>T (p.Pro355Ser)
|
rs998547889
|
0.00001
|
NM_001134363.3(RBM20):c.1139G>A (p.Arg380Gln)
|
rs777080028
|
0.00001
|
NM_001134363.3(RBM20):c.1159G>A (p.Ala387Thr)
|
rs886046703
|
0.00001
|
NM_001134363.3(RBM20):c.1400C>G (p.Thr467Arg)
|
rs775062085
|
0.00001
|
NM_001134363.3(RBM20):c.1494C>A (p.Ser498Arg)
|
rs774916799
|
0.00001
|
NM_001134363.3(RBM20):c.1552C>T (p.Arg518Cys)
|
rs369835514
|
0.00001
|
NM_001134363.3(RBM20):c.16G>A (p.Ala6Thr)
|
rs758772050
|
0.00001
|
NM_001134363.3(RBM20):c.1742T>A (p.Ile581Asn)
|
rs1444950975
|
0.00001
|
NM_001134363.3(RBM20):c.1868G>A (p.Arg623Gln)
|
rs1366402693
|
0.00001
|
NM_001134363.3(RBM20):c.1949C>T (p.Pro650Leu)
|
rs899383029
|
0.00001
|
NM_001134363.3(RBM20):c.1975C>T (p.His659Tyr)
|
rs763208424
|
0.00001
|
NM_001134363.3(RBM20):c.2011A>G (p.Asn671Asp)
|
rs1204905333
|
0.00001
|
NM_001134363.3(RBM20):c.2060A>G (p.Glu687Gly)
|
rs1051836531
|
0.00001
|
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter)
|
rs1393804220
|
0.00001
|
NM_001134363.3(RBM20):c.2287G>A (p.Glu763Lys)
|
rs794729152
|
0.00001
|
NM_001134363.3(RBM20):c.2497A>G (p.Arg833Gly)
|
rs371116877
|
0.00001
|
NM_001134363.3(RBM20):c.2514T>C (p.Ala838=)
|
rs794727966
|
0.00001
|
NM_001134363.3(RBM20):c.2633C>T (p.Pro878Leu)
|
rs368291152
|
0.00001
|
NM_001134363.3(RBM20):c.2759T>G (p.Phe920Cys)
|
rs112880805
|
0.00001
|
NM_001134363.3(RBM20):c.3205del (p.Arg1069fs)
|
rs1844916553
|
0.00001
|
NM_001134363.3(RBM20):c.3278A>T (p.Asp1093Val)
|
rs748335429
|
0.00001
|
NM_001134363.3(RBM20):c.3489C>T (p.Cys1163=)
|
rs1395153921
|
0.00001
|
NM_001134363.3(RBM20):c.3578A>G (p.Tyr1193Cys)
|
rs535839168
|
0.00001
|
NM_001134363.3(RBM20):c.3602G>A (p.Gly1201Asp)
|
rs1159249168
|
0.00001
|
NM_001134363.3(RBM20):c.3623C>T (p.Ala1208Val)
|
rs397516618
|
0.00001
|
NM_001134363.3(RBM20):c.3662G>A (p.Arg1221His)
|
rs1421547378
|
0.00001
|
NM_001134363.3(RBM20):c.3677A>G (p.Lys1226Arg)
|
rs1057524087
|
0.00001
|
NM_001134363.3(RBM20):c.418C>A (p.Pro140Thr)
|
rs1416612925
|
0.00001
|
NM_001134363.3(RBM20):c.50A>T (p.Glu17Val)
|
rs1443727983
|
0.00001
|
NM_001134363.3(RBM20):c.569C>T (p.Pro190Leu)
|
rs1321284191
|
0.00001
|
NM_001134363.3(RBM20):c.620C>T (p.Pro207Leu)
|
rs1185360800
|
0.00001
|
NM_001134363.3(RBM20):c.650G>T (p.Gly217Val)
|
rs1189201346
|
0.00001
|
NM_001134363.3(RBM20):c.858C>A (p.Asn286Lys)
|
rs1339836806
|
0.00001
|
GRCh37/hg19 10q25.2(chr10:112448209-112601330)x3
|
|
|
NM_001134363.3(RBM20):c.109_112del (p.Gly37fs)
|
rs2134792820
|
|
NM_001134363.3(RBM20):c.1156C>T (p.Gln386Ter)
|
rs794729143
|
|
NM_001134363.3(RBM20):c.1177C>A (p.Pro393Thr)
|
|
|
NM_001134363.3(RBM20):c.1222dup (p.Leu408fs)
|
rs1564844428
|
|
NM_001134363.3(RBM20):c.1250G>A (p.Cys417Tyr)
|
rs1060503412
|
|
NM_001134363.3(RBM20):c.1309G>T (p.Ala437Ser)
|
rs939425427
|
|
NM_001134363.3(RBM20):c.132_149dup (p.44PPPPPQ[3])
|
rs1204097562
|
|
NM_001134363.3(RBM20):c.141_161del (p.Pro48_Pro54del)
|
rs1286990478
|
|
NM_001134363.3(RBM20):c.141_161dup (p.Pro48_Pro54dup)
|
rs1286990478
|
|
NM_001134363.3(RBM20):c.1432T>G (p.Tyr478Asp)
|
|
|
NM_001134363.3(RBM20):c.1490C>A (p.Ser497Ter)
|
|
|
NM_001134363.3(RBM20):c.1527+2del
|
rs1554899451
|
|
NM_001134363.3(RBM20):c.1528-1G>C
|
rs534513476
|
|
NM_001134363.3(RBM20):c.1528T>C (p.Phe510Leu)
|
|
|
NM_001134363.3(RBM20):c.152CGCCCC[3] (p.Pro53_Pro54dup)
|
rs1554886580
|
|
NM_001134363.3(RBM20):c.1543G>A (p.Gly515Arg)
|
rs1235212712
|
|
NM_001134363.3(RBM20):c.1636A>G (p.Thr546Ala)
|
rs2135073949
|
|
NM_001134363.3(RBM20):c.166G>A (p.Ala56Thr)
|
|
|
NM_001134363.3(RBM20):c.1694A>G (p.Glu565Gly)
|
|
|
NM_001134363.3(RBM20):c.1769T>G (p.Met590Arg)
|
rs794729147
|
|
NM_001134363.3(RBM20):c.1804C>A (p.Pro602Thr)
|
rs1057524451
|
|
NM_001134363.3(RBM20):c.1909A>G (p.Ser637Gly)
|
rs267607005
|
|
NM_001134363.3(RBM20):c.1909_1911del (p.Ser637del)
|
rs794729163
|
|
NM_001134363.3(RBM20):c.1910G>A (p.Ser637Asn)
|
rs794729149
|
|
NM_001134363.3(RBM20):c.19A>G (p.Met7Val)
|
rs1590590851
|
|
NM_001134363.3(RBM20):c.19A>T (p.Met7Leu)
|
rs1590590851
|
|
NM_001134363.3(RBM20):c.2033dup (p.His678fs)
|
rs2135104270
|
|
NM_001134363.3(RBM20):c.2043T>A (p.Tyr681Ter)
|
rs376380567
|
|
NM_001134363.3(RBM20):c.2119T>A (p.Trp707Arg)
|
rs1554842725
|
|
NM_001134363.3(RBM20):c.2132G>A (p.Arg711His)
|
rs1448017649
|
|
NM_001134363.3(RBM20):c.2158A>G (p.Lys720Glu)
|
rs794729151
|
|
NM_001134363.3(RBM20):c.215A>T (p.Asn72Ile)
|
rs1372553161
|
|
NM_001134363.3(RBM20):c.2239C>G (p.His747Asp)
|
|
|
NM_001134363.3(RBM20):c.2291C>A (p.Pro764His)
|
rs1036485472
|
|
NM_001134363.3(RBM20):c.2299A>C (p.Lys767Gln)
|
rs775075323
|
|
NM_001134363.3(RBM20):c.237_298del (p.Asn80fs)
|
rs1554898759
|
|
NM_001134363.3(RBM20):c.2381G>C (p.Arg794Thr)
|
rs893252924
|
|
NM_001134363.3(RBM20):c.2588C>G (p.Pro863Arg)
|
rs794729153
|
|
NM_001134363.3(RBM20):c.2592_2595del (p.Ser865fs)
|
rs2135118733
|
|
NM_001134363.3(RBM20):c.2605C>T (p.Gln869Ter)
|
rs1564663888
|
|
NM_001134363.3(RBM20):c.2687del (p.Glu896fs)
|
rs2135120754
|
|
NM_001134363.3(RBM20):c.2728A>C (p.Thr910Pro)
|
rs397516606
|
|
NM_001134363.3(RBM20):c.2731G>A (p.Val911Met)
|
rs1590701521
|
|
NM_001134363.3(RBM20):c.2736C>A (p.Asp912Glu)
|
rs368136394
|
|
NM_001134363.3(RBM20):c.2740G>C (p.Val914Leu)
|
rs2135120928
|
|
NM_001134363.3(RBM20):c.2748AGA[2] (p.Glu918del)
|
rs765389992
|
|
NM_001134363.3(RBM20):c.2749G>A (p.Glu917Lys)
|
rs1844907124
|
|
NM_001134363.3(RBM20):c.2761A>T (p.Ile921Phe)
|
rs397516608
|
|
NM_001134363.3(RBM20):c.2806G>T (p.Asp936Tyr)
|
|
|
NM_001134363.3(RBM20):c.2944A>G (p.Arg982Gly)
|
|
|
NM_001134363.3(RBM20):c.3047G>C (p.Gly1016Ala)
|
rs540014314
|
|
NM_001134363.3(RBM20):c.3076G>C (p.Glu1026Gln)
|
|
|
NM_001134363.3(RBM20):c.3198C>G (p.Cys1066Trp)
|
|
|
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs)
|
rs727504763
|
|
NM_001134363.3(RBM20):c.3262C>A (p.Pro1088Thr)
|
rs969716149
|
|
NM_001134363.3(RBM20):c.3262C>G (p.Pro1088Ala)
|
rs969716149
|
|
NM_001134363.3(RBM20):c.3265C>A (p.Pro1089Thr)
|
rs147356378
|
|
NM_001134363.3(RBM20):c.3267dup (p.Ile1090fs)
|
rs760334885
|
|
NM_001134363.3(RBM20):c.3269T>C (p.Ile1090Thr)
|
rs1316833587
|
|
NM_001134363.3(RBM20):c.32C>T (p.Ala11Val)
|
rs794726895
|
|
NM_001134363.3(RBM20):c.3331G>T (p.Val1111Leu)
|
rs77110978
|
|
NM_001134363.3(RBM20):c.336C>T (p.Asn112=)
|
|
|
NM_001134363.3(RBM20):c.3424G>A (p.Val1142Met)
|
rs1057519239
|
|
NM_001134363.3(RBM20):c.3440G>A (p.Ser1147Asn)
|
|
|
NM_001134363.3(RBM20):c.348del (p.Ala117fs)
|
|
|
NM_001134363.3(RBM20):c.3560A>G (p.Tyr1187Cys)
|
|
|
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr)
|
rs753102653
|
|
NM_001134363.3(RBM20):c.3584C>G (p.Ser1195Cys)
|
rs753102653
|
|
NM_001134363.3(RBM20):c.364C>G (p.Gln122Glu)
|
rs727504583
|
|
NM_001134363.3(RBM20):c.517C>T (p.Pro173Ser)
|
|
|
NM_001134363.3(RBM20):c.521C>G (p.Pro174Arg)
|
|
|
NM_001134363.3(RBM20):c.532C>T (p.Arg178Ter)
|
rs794729161
|
|
NM_001134363.3(RBM20):c.551T>C (p.Met184Thr)
|
rs2135042080
|
|
NM_001134363.3(RBM20):c.665C>T (p.Ala222Val)
|
rs2135042487
|
|
NM_001134363.3(RBM20):c.68C>T (p.Ala23Val)
|
rs925693368
|
|
NM_001134363.3(RBM20):c.780T>G (p.Ser260Arg)
|
|
|
NM_001134363.3(RBM20):c.794_795dup (p.His266fs)
|
rs1564844065
|
|
NM_001134363.3(RBM20):c.817G>C (p.Asp273His)
|
|
|
NM_001134363.3(RBM20):c.839A>G (p.Lys280Arg)
|
rs2135043435
|
|
NM_001134363.3(RBM20):c.968A>G (p.His323Arg)
|
rs568559249
|
|
NM_001134363.3(RBM20):c.975C>A (p.Phe325Leu)
|
|
|
NM_001134363.3(RBM20):c.98del (p.Pro33fs)
|
rs1413443268
|
|