NM_001370259.2(MEN1):c.1243C>T (p.Arg415Ter)
|
rs1060499974
|
0.00001
|
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter)
|
rs104894267
|
0.00001
|
NM_001370259.2(MEN1):c.1001_1005dup (p.Glu336fs)
|
rs1114167483
|
|
NM_001370259.2(MEN1):c.1004delinsTT (p.Arg335fs)
|
rs1114167506
|
|
NM_001370259.2(MEN1):c.1010C>A (p.Ala337Asp)
|
rs2136118998
|
|
NM_001370259.2(MEN1):c.1015C>T (p.Gln339Ter)
|
rs1592643178
|
|
NM_001370259.2(MEN1):c.1022G>A (p.Trp341Ter)
|
rs1114167482
|
|
NM_001370259.2(MEN1):c.1049+1G>A
|
rs1114167489
|
|
NM_001370259.2(MEN1):c.1049+2T>G
|
|
|
NM_001370259.2(MEN1):c.1053C>G (p.Tyr351Ter)
|
rs767078097
|
|
NM_001370259.2(MEN1):c.1059C>G (p.Tyr353Ter)
|
|
|
NM_001370259.2(MEN1):c.1087_1089del (p.Glu363del)
|
rs869025185
|
|
NM_001370259.2(MEN1):c.1099del (p.Glu366_Val367insTer)
|
|
|
NM_001370259.2(MEN1):c.1100_1131del (p.Val367fs)
|
rs1592640213
|
|
NM_001370259.2(MEN1):c.1110del (p.Asp370fs)
|
rs794728658
|
|
NM_001370259.2(MEN1):c.1132G>T (p.Glu378Ter)
|
|
|
NM_001370259.2(MEN1):c.113C>T (p.Ser38Phe)
|
rs794728616
|
|
NM_001370259.2(MEN1):c.1154_1155dup (p.Gly386fs)
|
rs1592640081
|
|
NM_001370259.2(MEN1):c.1174G>T (p.Glu392Ter)
|
rs772588551
|
|
NM_001370259.2(MEN1):c.1177C>T (p.Gln393Ter)
|
rs1060499984
|
|
NM_001370259.2(MEN1):c.1180del (p.Ser394fs)
|
|
|
NM_001370259.2(MEN1):c.1202del (p.Gly401fs)
|
rs1941625647
|
|
NM_001370259.2(MEN1):c.1213C>T (p.Gln405Ter)
|
rs864622615
|
|
NM_001370259.2(MEN1):c.1214dup (p.Asp406fs)
|
rs1114167513
|
|
NM_001370259.2(MEN1):c.1224_1225insGTCC (p.Cys409fs)
|
rs1114167524
|
|
NM_001370259.2(MEN1):c.1247_1254del (p.Phe416fs)
|
rs1114167542
|
|
NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn)
|
rs104894264
|
|
NM_001370259.2(MEN1):c.1252G>T (p.Asp418Tyr)
|
rs104894264
|
|
NM_001370259.2(MEN1):c.1269G>A (p.Trp423Ter)
|
rs1114167533
|
|
NM_001370259.2(MEN1):c.1270G>T (p.Glu424Ter)
|
rs1114167477
|
|
NM_001370259.2(MEN1):c.1306T>C (p.Trp436Arg)
|
rs104894259
|
|
NM_001370259.2(MEN1):c.1308G>T (p.Trp436Cys)
|
rs398124435
|
|
NM_001370259.2(MEN1):c.1330del (p.Ser443_Leu444insTer)
|
rs1114167520
|
|
NM_001370259.2(MEN1):c.133G>A (p.Glu45Lys)
|
rs1114167491
|
|
NM_001370259.2(MEN1):c.1348C>T (p.Gln450Ter)
|
rs1114167509
|
|
NM_001370259.2(MEN1):c.1350+1G>A
|
rs863223311
|
|
NM_001370259.2(MEN1):c.1350+1_1350+11del
|
rs764570645
|
|
NM_001370259.2(MEN1):c.1375_1391dup (p.Ala467fs)
|
rs2136092832
|
|
NM_001370259.2(MEN1):c.1380_1383del (p.Glu461fs)
|
|
|
NM_001370259.2(MEN1):c.1382_1389dup (p.Ala464fs)
|
rs1114167531
|
|
NM_001370259.2(MEN1):c.1387G>T (p.Glu463Ter)
|
|
|
NM_001370259.2(MEN1):c.1390delinsCCT (p.Ala464fs)
|
rs1114167500
|
|
NM_001370259.2(MEN1):c.1400_1413del (p.Ala467fs)
|
rs1592633463
|
|
NM_001370259.2(MEN1):c.1406_1413dup (p.Gly472fs)
|
rs1114167536
|
|
NM_001370259.2(MEN1):c.1413G>A (p.Trp471Ter)
|
rs1941556077
|
|
NM_001370259.2(MEN1):c.1417G>T (p.Glu473Ter)
|
|
|
NM_001370259.2(MEN1):c.1429G>T (p.Glu477Ter)
|
rs863224526
|
|
NM_001370259.2(MEN1):c.1429del (p.Glu477fs)
|
|
|
NM_001370259.2(MEN1):c.1445del (p.Gly482fs)
|
|
|
NM_001370259.2(MEN1):c.1461dup (p.Lys488fs)
|
|
|
NM_001370259.2(MEN1):c.1464del (p.Lys488fs)
|
rs886039420
|
|
NM_001370259.2(MEN1):c.1478del (p.Pro493fs)
|
|
|
NM_001370259.2(MEN1):c.1504_1507dup (p.Gly503fs)
|
rs1114167476
|
|
NM_001370259.2(MEN1):c.1529_1530del (p.Ala510fs)
|
rs1114167522
|
|
NM_001370259.2(MEN1):c.1533_1534dup (p.Ser512fs)
|
rs794728659
|
|
NM_001370259.2(MEN1):c.1546del (p.Arg516fs)
|
rs767319284
|
|
NM_001370259.2(MEN1):c.1546dup (p.Arg516fs)
|
rs767319284
|
|
NM_001370259.2(MEN1):c.1548dup (p.Lys517fs)
|
rs761695866
|
|
NM_001370259.2(MEN1):c.1549A>T (p.Lys517Ter)
|
rs794728630
|
|
NM_001370259.2(MEN1):c.1574del (p.Thr525fs)
|
rs1114167514
|
|
NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter)
|
rs104894261
|
|
NM_001370259.2(MEN1):c.1602_1618del (p.Ala535fs)
|
rs794728660
|
|
NM_001370259.2(MEN1):c.1609del (p.Val537fs)
|
rs2136083128
|
|
NM_001370259.2(MEN1):c.1614dup (p.Ala539fs)
|
|
|
NM_001370259.2(MEN1):c.1638_1639dup (p.Glu547fs)
|
rs1114167496
|
|
NM_001370259.2(MEN1):c.1643_1721delinsTG (p.Gly548fs)
|
rs1555163136
|
|
NM_001370259.2(MEN1):c.1660C>T (p.Gln554Ter)
|
rs794728631
|
|
NM_001370259.2(MEN1):c.1665_1668del (p.Ser555fs)
|
rs1114167510
|
|
NM_001370259.2(MEN1):c.1666G>T (p.Glu556Ter)
|
rs1114167501
|
|
NM_001370259.2(MEN1):c.1675A>T (p.Lys559Ter)
|
|
|
NM_001370259.2(MEN1):c.16_17del (p.Ala6fs)
|
rs1114167523
|
|
NM_001370259.2(MEN1):c.190_196delinsAAGCCCAGCCCC (p.Gln64fs)
|
|
|
NM_001370259.2(MEN1):c.196_200dup (p.Asp70fs)
|
rs1555166609
|
|
NM_001370259.2(MEN1):c.1A>C (p.Met1Leu)
|
rs386134250
|
|
NM_001370259.2(MEN1):c.1A>G (p.Met1Val)
|
rs386134250
|
|
NM_001370259.2(MEN1):c.1A>T (p.Met1Leu)
|
rs386134250
|
|
NM_001370259.2(MEN1):c.202_206dup (p.Asp70fs)
|
rs730882136
|
|
NM_001370259.2(MEN1):c.223del (p.Leu75fs)
|
rs1114167485
|
|
NM_001370259.2(MEN1):c.231C>A (p.Tyr77Ter)
|
|
|
NM_001370259.2(MEN1):c.231C>G (p.Tyr77Ter)
|
rs1555166567
|
|
NM_001370259.2(MEN1):c.234dup (p.Pro79fs)
|
rs2136188431
|
|
NM_001370259.2(MEN1):c.237del (p.Val80fs)
|
rs1114167486
|
|
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs)
|
rs587776841
|
|
NM_001370259.2(MEN1):c.265del (p.Leu89fs)
|
rs1114167490
|
|
NM_001370259.2(MEN1):c.270T>A (p.Tyr90Ter)
|
rs1114167527
|
|
NM_001370259.2(MEN1):c.273_276del (p.Arg92fs)
|
rs1114167516
|
|
NM_001370259.2(MEN1):c.292C>T (p.Arg98Ter)
|
rs886039413
|
|
NM_001370259.2(MEN1):c.2T>C (p.Met1Thr)
|
|
|
NM_001370259.2(MEN1):c.2T>G (p.Met1Arg)
|
|
|
NM_001370259.2(MEN1):c.307del (p.Leu103fs)
|
rs794728639
|
|
NM_001370259.2(MEN1):c.322C>T (p.Arg108Ter)
|
rs794728647
|
|
NM_001370259.2(MEN1):c.32del (p.Phe11fs)
|
rs1592661082
|
|
NM_001370259.2(MEN1):c.336del (p.Ser113fs)
|
rs1114167478
|
|
NM_001370259.2(MEN1):c.340dup (p.Ser114fs)
|
rs886041213
|
|
NM_001370259.2(MEN1):c.343del (p.Arg115fs)
|
|
|
NM_001370259.2(MEN1):c.346G>T (p.Glu116Ter)
|
rs1060499992
|
|
NM_001370259.2(MEN1):c.350del (p.Leu117fs)
|
rs1555166387
|
|
NM_001370259.2(MEN1):c.355AAG[1] (p.Lys120del)
|
rs794728657
|
|
NM_001370259.2(MEN1):c.378del (p.Ile125_Trp126insTer)
|
rs1114167492
|
|
NM_001370259.2(MEN1):c.386del (p.Leu129fs)
|
rs1565651223
|
|
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile)
|
rs786204242
|
|
NM_001370259.2(MEN1):c.402del (p.Phe134fs)
|
rs397515385
|
|
NM_001370259.2(MEN1):c.415C>G (p.His139Asp)
|
rs104894263
|
|
NM_001370259.2(MEN1):c.416A>G (p.His139Arg)
|
rs1114167515
|
|
NM_001370259.2(MEN1):c.417del (p.His139fs)
|
rs1114167540
|
|
NM_001370259.2(MEN1):c.41_42dup (p.Ser15fs)
|
rs1592660983
|
|
NM_001370259.2(MEN1):c.429_432delinsATT (p.Phe144fs)
|
rs1114167481
|
|
NM_001370259.2(MEN1):c.430T>G (p.Phe144Val)
|
rs1114167543
|
|
NM_001370259.2(MEN1):c.431_432delinsAA (p.Phe144Ter)
|
rs1114167511
|
|
NM_001370259.2(MEN1):c.435delinsTT (p.Ile147fs)
|
|
|
NM_001370259.2(MEN1):c.442del (p.Thr148fs)
|
rs1941975256
|
|
NM_001370259.2(MEN1):c.446-1G>A
|
rs1064793672
|
|
NM_001370259.2(MEN1):c.446-2A>G
|
rs886042035
|
|
NM_001370259.2(MEN1):c.466G>T (p.Gly156Cys)
|
rs1085307471
|
|
NM_001370259.2(MEN1):c.467G>A (p.Gly156Asp)
|
rs794728648
|
|
NM_001370259.2(MEN1):c.478G>C (p.Ala160Pro)
|
rs1565648656
|
|
NM_001370259.2(MEN1):c.526G>C (p.Ala176Pro)
|
rs376872829
|
|
NM_001370259.2(MEN1):c.526del (p.Ala176fs)
|
|
|
NM_001370259.2(MEN1):c.529_530del (p.Leu177fs)
|
rs1114167470
|
|
NM_001370259.2(MEN1):c.530del (p.Leu177fs)
|
rs1114167503
|
|
NM_001370259.2(MEN1):c.548G>A (p.Trp183Ter)
|
rs794728650
|
|
NM_001370259.2(MEN1):c.563_564del (p.Pro188fs)
|
rs1555165756
|
|
NM_001370259.2(MEN1):c.577del (p.Thr193fs)
|
rs1592650986
|
|
NM_001370259.2(MEN1):c.628_631del (p.Thr210fs)
|
rs794728640
|
|
NM_001370259.2(MEN1):c.654+1G>A
|
rs794728622
|
|
NM_001370259.2(MEN1):c.654+1G>T
|
rs794728622
|
|
NM_001370259.2(MEN1):c.655-1G>C
|
rs1592649615
|
|
NM_001370259.2(MEN1):c.660G>A (p.Trp220Ter)
|
rs886039414
|
|
NM_001370259.2(MEN1):c.666C>A (p.Tyr222Ter)
|
rs1555165597
|
|
NM_001370259.2(MEN1):c.668T>C (p.Leu223Pro)
|
rs886039415
|
|
NM_001370259.2(MEN1):c.682_685dup (p.Arg229fs)
|
rs1114167519
|
|
NM_001370259.2(MEN1):c.688dup (p.Cys230fs)
|
|
|
NM_001370259.2(MEN1):c.690T>A (p.Cys230Ter)
|
|
|
NM_001370259.2(MEN1):c.697A>T (p.Lys233Ter)
|
rs1114167499
|
|
NM_001370259.2(MEN1):c.6del (p.Gly2_Leu3insTer)
|
rs2136197117
|
|
NM_001370259.2(MEN1):c.703G>A (p.Glu235Lys)
|
rs1114167488
|
|
NM_001370259.2(MEN1):c.706_709dup (p.Ala237fs)
|
rs1114167534
|
|
NM_001370259.2(MEN1):c.723_724del (p.Ala242fs)
|
rs1592649069
|
|
NM_001370259.2(MEN1):c.727_734del (p.Ile243fs)
|
rs1114167532
|
|
NM_001370259.2(MEN1):c.778C>T (p.Gln260Ter)
|
rs104894266
|
|
NM_001370259.2(MEN1):c.781C>T (p.Gln261Ter)
|
rs1057520733
|
|
NM_001370259.2(MEN1):c.783+1G>A
|
rs794728652
|
|
NM_001370259.2(MEN1):c.783+1G>C
|
rs794728652
|
|
NM_001370259.2(MEN1):c.783+1G>T
|
rs794728652
|
|
NM_001370259.2(MEN1):c.784-2A>G
|
rs1114167472
|
|
NM_001370259.2(MEN1):c.784-9G>A
|
rs794728625
|
|
NM_001370259.2(MEN1):c.794G>A (p.Trp265Ter)
|
rs2136134076
|
|
NM_001370259.2(MEN1):c.824+1G>A
|
rs1060499976
|
|
NM_001370259.2(MEN1):c.824G>A (p.Arg275Lys)
|
rs1187634059
|
|
NM_001370259.2(MEN1):c.825-1_828delinsTACCTAGAGGTT
|
rs1592646831
|
|
NM_001370259.2(MEN1):c.828C>A (p.Tyr276Ter)
|
rs1060503789
|
|
NM_001370259.2(MEN1):c.85C>T (p.Arg29Ter)
|
rs794728615
|
|
NM_001370259.2(MEN1):c.89_90del (p.Glu30fs)
|
|
|
NM_001370259.2(MEN1):c.911del (p.Lys304fs)
|
rs1592646226
|
|
NM_001370259.2(MEN1):c.912+1G>A
|
rs398124437
|
|
NM_001370259.2(MEN1):c.912+1G>C
|
rs398124437
|
|
NM_001370259.2(MEN1):c.923C>A (p.Ser308Ter)
|
rs1565644366
|
|
NM_001370259.2(MEN1):c.936C>G (p.Tyr312Ter)
|
rs386134260
|
|
NM_001370259.2(MEN1):c.939T>G (p.Tyr313Ter)
|
rs1555165128
|
|
NM_001370259.2(MEN1):c.959C>T (p.Pro320Leu)
|
rs1114167469
|
|
NM_001370259.2(MEN1):c.961del (p.Tyr321fs)
|
|
|
NM_001370259.2(MEN1):c.967del (p.Tyr323fs)
|
rs1114167541
|
|
NM_001370259.2(MEN1):c.969C>A (p.Tyr323Ter)
|
rs750904332
|
|
NM_001370259.2(MEN1):c.970del (p.Leu324fs)
|
rs1114167508
|
|
NM_001370259.2(MEN1):c.979T>G (p.Tyr327Asp)
|
rs1259383083
|
|
NM_130799.2(MEN1):c.1391_1392ins13 (p.?)
|
|
|
NM_130799.2:c.1430_1431insALU
|
|
|