NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)
|
rs80359890
|
0.00205
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala)
|
rs200488568
|
0.00024
|
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter)
|
rs776005417
|
0.00022
|
NM_018972.4(GDAP1):c.399G>A (p.Met133Ile)
|
rs139808557
|
0.00017
|
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)
|
rs104894077
|
0.00015
|
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu)
|
rs121908114
|
0.00015
|
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter)
|
rs377357931
|
0.00009
|
NM_014845.6(FIG4):c.793C>T (p.Arg265Ter)
|
rs774294963
|
0.00006
|
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter)
|
rs104894707
|
0.00006
|
NM_181882.3(PRX):c.1090C>T (p.Arg364Ter)
|
rs144183238
|
0.00005
|
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)
|
rs121913603
|
0.00004
|
NM_001370298.3(FGD4):c.1402del (p.Gln468fs)
|
rs1393673267
|
0.00004
|
NM_003172.4(SURF1):c.240+1G>T
|
rs781948238
|
0.00004
|
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp)
|
rs782190413
|
0.00004
|
NM_014845.6(FIG4):c.262C>T (p.Arg88Ter)
|
rs753207473
|
0.00004
|
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)
|
rs104894080
|
0.00004
|
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg)
|
rs775622226
|
0.00004
|
NM_018972.4(GDAP1):c.928C>T (p.Arg310Trp)
|
rs538389475
|
0.00004
|
NM_030962.4(SBF2):c.5254_5255insTTAT (p.Lys1752fs)
|
rs1064793771
|
0.00004
|
NM_014845.6(FIG4):c.2459+1G>A
|
rs747768373
|
0.00003
|
NM_018972.4(GDAP1):c.501del (p.Glu168fs)
|
rs886041386
|
0.00003
|
NM_018972.4(GDAP1):c.817C>T (p.Arg273Ter)
|
rs150989205
|
0.00003
|
NM_018972.4(GDAP1):c.845G>A (p.Arg282His)
|
rs375431837
|
0.00003
|
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)
|
rs80338926
|
0.00003
|
NM_024577.4(SH3TC2):c.2710C>T (p.Arg904Ter)
|
rs80338931
|
0.00003
|
NM_024577.4(SH3TC2):c.279G>A (p.Lys93=)
|
rs776221160
|
0.00003
|
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)
|
rs80338934
|
0.00003
|
NM_024577.4(SH3TC2):c.3512G>T (p.Arg1171Leu)
|
rs200728983
|
0.00003
|
NM_024577.4(SH3TC2):c.929G>A (p.Gly310Glu)
|
rs763949764
|
0.00003
|
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter)
|
rs104894714
|
0.00003
|
NM_181882.3(PRX):c.589G>T (p.Glu197Ter)
|
rs753857146
|
0.00003
|
NM_014845.6(FIG4):c.50T>C (p.Leu17Pro)
|
rs587777713
|
0.00002
|
NM_014845.6(FIG4):c.877-2A>C
|
rs143956557
|
0.00002
|
NM_014845.6(FIG4):c.904G>A (p.Glu302Lys)
|
rs587777714
|
0.00002
|
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter)
|
rs104894075
|
0.00002
|
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His)
|
rs80338923
|
0.00002
|
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys)
|
rs80338925
|
0.00002
|
NM_024577.4(SH3TC2):c.3650G>A (p.Gly1217Asp)
|
rs758669363
|
0.00002
|
NM_181882.3(PRX):c.1174C>T (p.Arg392Ter)
|
rs773009397
|
0.00002
|
NM_181882.3(PRX):c.2689C>T (p.Arg897Ter)
|
rs756689732
|
0.00002
|
NM_001358263.1(HK1):c.19C>T (p.Arg7Ter)
|
rs779250530
|
0.00001
|
NM_001370298.3(FGD4):c.1234C>T (p.Arg412Ter)
|
rs118203974
|
0.00001
|
NM_001370298.3(FGD4):c.2079G>A (p.Trp693Ter)
|
rs751404531
|
0.00001
|
NM_001370298.3(FGD4):c.2083C>T (p.Arg695Ter)
|
rs899737461
|
0.00001
|
NM_001370298.3(FGD4):c.2140C>T (p.Arg714Ter)
|
rs778377449
|
0.00001
|
NM_001370298.3(FGD4):c.2167G>T (p.Gly723Ter)
|
rs118203973
|
0.00001
|
NM_002972.4(SBF1):c.1249A>G (p.Met417Val)
|
rs587776986
|
0.00001
|
NM_003172.4(SURF1):c.107-2A>G
|
rs782726390
|
0.00001
|
NM_006096.4(NDRG1):c.16C>T (p.Gln6Ter)
|
rs1048918488
|
0.00001
|
NM_006096.4(NDRG1):c.205+1G>A
|
rs1060503092
|
0.00001
|
NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter)
|
rs119483085
|
0.00001
|
NM_014845.6(FIG4):c.1043_1050del (p.Asp348fs)
|
rs1368013631
|
0.00001
|
NM_014845.6(FIG4):c.1447C>T (p.Arg483Ter)
|
rs1228223508
|
0.00001
|
NM_014845.6(FIG4):c.1675A>T (p.Lys559Ter)
|
rs776090013
|
0.00001
|
NM_014845.6(FIG4):c.1949-10T>G
|
rs896444437
|
0.00001
|
NM_014845.6(FIG4):c.1A>C (p.Met1Leu)
|
rs1490935299
|
0.00001
|
NM_014845.6(FIG4):c.2212C>T (p.Gln738Ter)
|
rs774799167
|
0.00001
|
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter)
|
rs745790694
|
0.00001
|
NM_014845.6(FIG4):c.290-2A>T
|
rs587777715
|
0.00001
|
NM_014845.6(FIG4):c.531T>G (p.Tyr177Ter)
|
rs760575768
|
0.00001
|
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter)
|
rs121908288
|
0.00001
|
NM_016156.6(MTMR2):c.1090C>T (p.Arg364Ter)
|
rs776757548
|
0.00001
|
NM_016156.6(MTMR2):c.1276C>T (p.Gln426Ter)
|
rs121434402
|
0.00001
|
NM_016156.6(MTMR2):c.1318C>T (p.Arg440Ter)
|
rs751677491
|
0.00001
|
NM_016156.6(MTMR2):c.1362_1363del (p.Ser455fs)
|
rs1177373744
|
0.00001
|
NM_016156.6(MTMR2):c.430C>T (p.Arg144Ter)
|
rs1864438088
|
0.00001
|
NM_016156.6(MTMR2):c.883C>T (p.Arg295Ter)
|
rs1171462240
|
0.00001
|
NM_018972.4(GDAP1):c.191A>G (p.Asn64Ser)
|
rs769632836
|
0.00001
|
NM_018972.4(GDAP1):c.311-1G>A
|
rs1370011538
|
0.00001
|
NM_018972.4(GDAP1):c.326T>A (p.Leu109Ter)
|
rs751986220
|
0.00001
|
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg)
|
rs281865060
|
0.00001
|
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr)
|
rs936681187
|
0.00001
|
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)
|
rs104894078
|
0.00001
|
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter)
|
rs745663149
|
0.00001
|
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu)
|
rs538412810
|
0.00001
|
NM_018972.4(GDAP1):c.544C>T (p.Gln182Ter)
|
rs779894269
|
0.00001
|
NM_018972.4(GDAP1):c.754G>A (p.Ala252Thr)
|
rs778105019
|
0.00001
|
NM_018972.4(GDAP1):c.767A>G (p.His256Arg)
|
rs1476856429
|
0.00001
|
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter)
|
rs770501034
|
0.00001
|
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys)
|
rs28937906
|
0.00001
|
NM_024577.4(SH3TC2):c.1384G>T (p.Glu462Ter)
|
rs749850181
|
0.00001
|
NM_024577.4(SH3TC2):c.1978C>T (p.Gln660Ter)
|
rs1554121665
|
0.00001
|
NM_024577.4(SH3TC2):c.211C>T (p.Gln71Ter)
|
rs864622663
|
0.00001
|
NM_024577.4(SH3TC2):c.2528G>T (p.Gly843Val)
|
rs1463859150
|
0.00001
|
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser)
|
rs80338930
|
0.00001
|
NM_024577.4(SH3TC2):c.2775G>A (p.Trp925Ter)
|
rs757701609
|
0.00001
|
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter)
|
rs80338932
|
0.00001
|
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro)
|
rs537759361
|
0.00001
|
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys)
|
rs759785462
|
0.00001
|
NM_024577.4(SH3TC2):c.3596G>A (p.Trp1199Ter)
|
rs761972717
|
0.00001
|
NM_024577.4(SH3TC2):c.3627T>A (p.Tyr1209Ter)
|
rs1248359114
|
0.00001
|
NM_024577.4(SH3TC2):c.375C>A (p.Tyr125Ter)
|
rs1754425732
|
0.00001
|
NM_024577.4(SH3TC2):c.386-2A>C
|
rs145670786
|
0.00001
|
NM_024577.4(SH3TC2):c.798T>G (p.Tyr266Ter)
|
rs377509077
|
0.00001
|
NM_030962.4(SBF2):c.1066C>T (p.Arg356Ter)
|
rs1032796987
|
0.00001
|
NM_030962.4(SBF2):c.1879G>T (p.Glu627Ter)
|
rs1433023728
|
0.00001
|
NM_030962.4(SBF2):c.20_21del (p.Tyr7fs)
|
rs1270869520
|
0.00001
|
NM_030962.4(SBF2):c.2668C>T (p.Arg890Ter)
|
rs1413469900
|
0.00001
|
NM_030962.4(SBF2):c.3526C>T (p.Arg1176Ter)
|
rs774667470
|
0.00001
|
NM_030962.4(SBF2):c.444del (p.Asn149fs)
|
rs1295003959
|
0.00001
|
NM_181882.3(PRX):c.1102C>T (p.Arg368Ter)
|
rs104894715
|
0.00001
|
NM_181882.3(PRX):c.1390C>T (p.Arg464Ter)
|
rs574861276
|
0.00001
|
NM_181882.3(PRX):c.1864C>T (p.Gln622Ter)
|
rs1210729449
|
0.00001
|
NM_181882.3(PRX):c.3014_3015insT (p.Lys1006fs)
|
rs1301129751
|
0.00001
|
NM_181882.3(PRX):c.3099_3100del (p.Glu1034fs)
|
rs1474525486
|
0.00001
|
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter)
|
rs104894708
|
0.00001
|
GRCh37/hg19 1q23.3(chr1:161255241-161276497)
|
|
|
NC_000005.10:g.(?_149040594)_(149040687_?)del
|
|
|
NC_000005.10:g.(?_149047842)_(149048009_?)del
|
|
|
NC_000005.10:g.(?_149062971)_(149063174_?)del
|
|
|
NC_000005.9:g.(?_148360713)_(148443737_?)del
|
|
|
NC_000005.9:g.(?_148420147)_(148420260_?)del
|
|
|
NC_000005.9:g.(?_148426859)_(148427552_?)del
|
|
|
NC_000006.11:g.(?_107019871)_(110266416_?)del
|
|
|
NC_000006.11:g.(?_110012639)_(110064995_?)del
|
|
|
NC_000006.11:g.(?_110048292)_(110053276_?)del
|
|
|
NC_000006.11:g.(?_110048292)_(110098283_?)del
|
|
|
NC_000006.12:g.(?_109691416)_(109691521_?)del
|
|
|
NC_000006.12:g.(?_109741424)_(109743792_?)del
|
|
|
NC_000008.10:g.(?_134107268)_(134296554_?)del
|
|
|
NC_000008.10:g.(?_134260948)_(134262796_?)del
|
|
|
NC_000008.10:g.(?_134292465)_(134296564_?)del
|
|
|
NC_000008.10:g.(?_75262697)_(75276602_?)del
|
|
|
NC_000008.9:g.(75248716_75262617)_(75559358_75586021)del
|
|
|
NC_000011.10:g.(?_10193902)_(10193987_?)del
|
|
|
NC_000011.9:g.(?_10215443)_(10215540_?)del
|
|
|
NC_000011.9:g.(?_9809161)_(9812250_?)del
|
|
|
NC_000011.9:g.(?_9809171)_(9812240_?)del
|
|
|
NC_000011.9:g.(?_9864152)_(9871785_?)del
|
|
|
NC_000011.9:g.(?_9989878)_(9990102_?)del
|
|
|
NC_000012.11:g.(?_32729292)_(32793467_?)del
|
|
|
NC_000012.12:g.(?_32576256)_(32640543_?)del
|
|
|
NC_000012.12:g.(?_32576352)_(32619876_?)del
|
|
|
NC_000019.10:g.(?_40403686)_(40403882_?)del
|
|
|
NC_000019.10:g.(?_40403696)_(40403872_?)del
|
|
|
NG_007943.1:g.(43089_43830)_(47717_51712)dup
|
|
|
NM_000399.5(EGR2):c.803T>A (p.Ile268Asn)
|
rs104894158
|
|
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)
|
rs121913595
|
|
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)
|
rs121913586
|
|
NM_001242898.2(PPP6R2):c.228-326A>G
|
rs2147148112
|
|
NM_001358263.1(HK1):c.-270G>C
|
rs397514654
|
|
NM_001370298.3(FGD4):c.1024C>T (p.Gln342Ter)
|
rs201676628
|
|
NM_001370298.3(FGD4):c.1051del (p.Leu351fs)
|
rs1948089932
|
|
NM_001370298.3(FGD4):c.1081C>T (p.Arg361Ter)
|
rs118203972
|
|
NM_001370298.3(FGD4):c.1135C>T (p.Arg379Ter)
|
rs1948408994
|
|
NM_001370298.3(FGD4):c.1304T>C (p.Met435Thr)
|
rs63749871
|
|
NM_001370298.3(FGD4):c.1304T>G (p.Met435Arg)
|
rs63749871
|
|
NM_001370298.3(FGD4):c.1454del (p.Pro485fs)
|
rs1592387932
|
|
NM_001370298.3(FGD4):c.1497_1500del (p.Asp498_Tyr499insTer)
|
|
|
NM_001370298.3(FGD4):c.1740C>A (p.Tyr580Ter)
|
rs886041200
|
|
NM_001370298.3(FGD4):c.1869T>G (p.Tyr623Ter)
|
|
|
NM_001370298.3(FGD4):c.1930C>T (p.Gln644Ter)
|
rs2136932206
|
|
NM_001370298.3(FGD4):c.2039_2040del (p.Glu680fs)
|
rs1565921326
|
|
NM_001370298.3(FGD4):c.2173-2A>G
|
rs281865065
|
|
NM_001370298.3(FGD4):c.2252_2253del (p.Cys751fs)
|
rs1401878479
|
|
NM_001370298.3(FGD4):c.2276_2277del (p.Thr759fs)
|
rs1555223595
|
|
NM_001370298.3(FGD4):c.2298_2302del (p.Lys767fs)
|
rs751035912
|
|
NM_001370298.3(FGD4):c.2298_2302dup (p.Gly768fs)
|
rs751035912
|
|
NM_001370298.3(FGD4):c.2444dup (p.Ala816fs)
|
rs2137076976
|
|
NM_001370298.3(FGD4):c.2452del (p.Gln818fs)
|
rs1060501904
|
|
NM_001370298.3(FGD4):c.2452dup (p.Gln818fs)
|
|
|
NM_001370298.3(FGD4):c.2583_2586del (p.Ser861fs)
|
rs1951100155
|
|
NM_001370298.3(FGD4):c.2596C>T (p.Gln866Ter)
|
|
|
NM_001370298.3(FGD4):c.2622dup (p.Ala875fs)
|
rs1565942358
|
|
NM_001370298.3(FGD4):c.616del (p.Gln206fs)
|
rs2136432373
|
|
NM_001370298.3(FGD4):c.925del (p.Ala309fs)
|
rs1565869918
|
|
NM_001370298.3(FGD4):c.994C>T (p.Gln332Ter)
|
|
|
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn)
|
rs690016543
|
|
NM_002972.4(SBF1):c.2289C>T (p.Arg763=)
|
rs2148590692
|
|
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del)
|
rs863224229
|
|
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer)
|
rs863224228
|
|
NM_003172.4(SURF1):c.367_368del (p.Arg123fs)
|
rs2119083553
|
|
NM_003172.4(SURF1):c.532_535del (p.Asn178fs)
|
rs1057517942
|
|
NM_003172.4(SURF1):c.758_759del (p.Thr253fs)
|
rs782349178
|
|
NM_003172.4(SURF1):c.792_793del (p.Arg264fs)
|
rs782490558
|
|
NM_003172.4(SURF1):c.799_800del (p.Leu267fs)
|
rs864309500
|
|
NM_003172.4(SURF1):c.845_846del (p.Ser282fs)
|
rs782316919
|
|
NM_006096.4(NDRG1):c.205+1G>C
|
|
|
NM_006096.4(NDRG1):c.205+1G>T
|
rs1060503092
|
|
NM_006096.4(NDRG1):c.205+2T>A
|
rs1586451553
|
|
NM_006096.4(NDRG1):c.237C>A (p.Tyr79Ter)
|
rs199928197
|
|
NM_006096.4(NDRG1):c.327-1G>A
|
rs2130727581
|
|
NM_006096.4(NDRG1):c.330C>G (p.Tyr110Ter)
|
|
|
NM_006096.4(NDRG1):c.368del (p.Pro123fs)
|
rs2130727371
|
|
NM_006096.4(NDRG1):c.389+92_594+1717dup
|
|
|
NM_006096.4(NDRG1):c.40A>T (p.Lys14Ter)
|
|
|
NM_006096.4(NDRG1):c.510_511insTGTGTGGA (p.Gly171fs)
|
|
|
NM_006096.4(NDRG1):c.518_521dup (p.Trp175fs)
|
rs2130719686
|
|
NM_006096.4(NDRG1):c.524G>A (p.Trp175Ter)
|
|
|
NM_006096.4(NDRG1):c.525G>A (p.Trp175Ter)
|
|
|
NM_006096.4(NDRG1):c.537+2_537+10del
|
rs2130719557
|
|
NM_006096.4(NDRG1):c.538-1G>A
|
rs11575976
|
|
NM_006096.4(NDRG1):c.604C>T (p.Gln202Ter)
|
rs1855957969
|
|
NM_006096.4(NDRG1):c.641del (p.His214fs)
|
|
|
NM_006096.4(NDRG1):c.721C>T (p.Arg241Ter)
|
|
|
NM_006096.4(NDRG1):c.944-1G>T
|
rs1588216753
|
|
NM_014845.6(FIG4):c.1096C>T (p.Gln366Ter)
|
rs2128387076
|
|
NM_014845.6(FIG4):c.1134del (p.Lys379fs)
|
|
|
NM_014845.6(FIG4):c.1205del (p.Asn402fs)
|
rs1554303800
|
|
NM_014845.6(FIG4):c.1207C>T (p.Gln403Ter)
|
rs879253926
|
|
NM_014845.6(FIG4):c.1227del (p.His409fs)
|
|
|
NM_014845.6(FIG4):c.1327A>T (p.Lys443Ter)
|
rs2128391439
|
|
NM_014845.6(FIG4):c.1373dup (p.Leu458fs)
|
rs770043095
|
|
NM_014845.6(FIG4):c.1412_1413del (p.Val471fs)
|
rs2128391901
|
|
NM_014845.6(FIG4):c.1445_1452del (p.Leu482fs)
|
rs2128392205
|
|
NM_014845.6(FIG4):c.1469T>G (p.Leu490Ter)
|
|
|
NM_014845.6(FIG4):c.1538del (p.Gly513fs)
|
rs1777242231
|
|
NM_014845.6(FIG4):c.156del (p.Ile52fs)
|
|
|
NM_014845.6(FIG4):c.1666dup (p.Thr556fs)
|
rs772320287
|
|
NM_014845.6(FIG4):c.1688G>A (p.Trp563Ter)
|
rs2128392620
|
|
NM_014845.6(FIG4):c.1714C>T (p.Gln572Ter)
|
|
|
NM_014845.6(FIG4):c.1750+1del
|
rs764770160
|
|
NM_014845.6(FIG4):c.1762C>T (p.Gln588Ter)
|
rs2128394568
|
|
NM_014845.6(FIG4):c.1808_1811dup (p.Pro605fs)
|
|
|
NM_014845.6(FIG4):c.184G>T (p.Glu62Ter)
|
|
|
NM_014845.6(FIG4):c.1905G>A (p.Trp635Ter)
|
|
|
NM_014845.6(FIG4):c.1928T>A (p.Leu643Ter)
|
rs1488999396
|
|
NM_014845.6(FIG4):c.1986dup (p.Lys663fs)
|
rs1197741113
|
|
NM_014845.6(FIG4):c.1A>G (p.Met1Val)
|
|
|
NM_014845.6(FIG4):c.1_18del (p.Met1_Ala6del)
|
rs2128375200
|
|
NM_014845.6(FIG4):c.2065dup (p.Thr689fs)
|
rs1777959239
|
|
NM_014845.6(FIG4):c.2071dup (p.Cys691fs)
|
|
|
NM_014845.6(FIG4):c.2161del (p.Thr721fs)
|
rs2128396856
|
|
NM_014845.6(FIG4):c.2174dup (p.Leu726fs)
|
rs1562685713
|
|
NM_014845.6(FIG4):c.2180+1del
|
|
|
NM_014845.6(FIG4):c.21del (p.Ile8fs)
|
|
|
NM_014845.6(FIG4):c.2285_2286del (p.Ser762fs)
|
rs750712213
|
|
NM_014845.6(FIG4):c.2299dup (p.Glu767fs)
|
rs1191997383
|
|
NM_014845.6(FIG4):c.2302G>T (p.Glu768Ter)
|
rs2128397285
|
|
NM_014845.6(FIG4):c.2386C>T (p.Gln796Ter)
|
rs1554309093
|
|
NM_014845.6(FIG4):c.2431_2432del (p.Ser811fs)
|
rs1778167481
|
|
NM_014845.6(FIG4):c.290-2A>G
|
rs587777715
|
|
NM_014845.6(FIG4):c.294del (p.Phe98fs)
|
rs1562648373
|
|
NM_014845.6(FIG4):c.317_321del (p.Tyr106fs)
|
rs1562648414
|
|
NM_014845.6(FIG4):c.454C>T (p.Arg152Ter)
|
rs1175493477
|
|
NM_014845.6(FIG4):c.463C>T (p.Gln155Ter)
|
|
|
NM_014845.6(FIG4):c.490del (p.Tyr164fs)
|
rs769986219
|
|
NM_014845.6(FIG4):c.557del (p.Leu186fs)
|
|
|
NM_014845.6(FIG4):c.592C>T (p.Gln198Ter)
|
|
|
NM_014845.6(FIG4):c.759del (p.Phe254fs)
|
rs764717219
|
|
NM_014845.6(FIG4):c.773C>G (p.Ser258Ter)
|
|
|
NM_014845.6(FIG4):c.783del (p.Ile262fs)
|
rs1161553940
|
|
NM_014845.6(FIG4):c.831_838del (p.Lys278fs)
|
rs786200937
|
|
NM_016156.6(MTMR2):c.1034del (p.Asn345fs)
|
rs863224516
|
|
NM_016156.6(MTMR2):c.1096del (p.Lys367fs)
|
|
|
NM_016156.6(MTMR2):c.1164G>A (p.Trp388Ter)
|
rs1555060024
|
|
NM_016156.6(MTMR2):c.1239_1240del (p.Val414fs)
|
rs1863723947
|
|
NM_016156.6(MTMR2):c.1444C>T (p.Gln482Ter)
|
rs121434404
|
|
NM_016156.6(MTMR2):c.1454_1457del (p.Asp485fs)
|
rs1590974596
|
|
NM_016156.6(MTMR2):c.1459_1460del (p.Val487fs)
|
rs758637255
|
|
NM_016156.6(MTMR2):c.1479+1G>A
|
rs1590974546
|
|
NM_016156.6(MTMR2):c.1490dup (p.Phe498fs)
|
rs1590971080
|
|
NM_016156.6(MTMR2):c.1537_1538dup (p.Ser514fs)
|
rs1555057316
|
|
NM_016156.6(MTMR2):c.1591G>T (p.Glu531Ter)
|
rs1863365049
|
|
NM_016156.6(MTMR2):c.1593+1G>A
|
rs1590970875
|
|
NM_016156.6(MTMR2):c.1736_1745delinsCC (p.Tyr579fs)
|
rs1863269109
|
|
NM_016156.6(MTMR2):c.1768C>T (p.Gln590Ter)
|
rs1565342506
|
|
NM_016156.6(MTMR2):c.304C>T (p.Arg102Ter)
|
rs115506357
|
|
NM_016156.6(MTMR2):c.37C>T (p.Gln13Ter)
|
|
|
NM_016156.6(MTMR2):c.454_458del (p.Glu152fs)
|
rs1590997023
|
|
NM_016156.6(MTMR2):c.464_465del (p.Val154_Cys155insTer)
|
rs1358449243
|
|
NM_016156.6(MTMR2):c.484C>T (p.Arg162Ter)
|
|
|
NM_016156.6(MTMR2):c.579dup (p.Ala194fs)
|
|
|
NM_016156.6(MTMR2):c.766_767del (p.Lys256fs)
|
rs769429967
|
|
NM_016156.6(MTMR2):c.826G>T (p.Glu276Ter)
|
rs121434403
|
|
NM_016156.6(MTMR2):c.832C>T (p.Gln278Ter)
|
rs757563721
|
|
NM_016156.6(MTMR2):c.874del (p.Ser292fs)
|
rs1863944217
|
|
NM_016156.6(MTMR2):c.928_929insTGATATTTACTGAGTACAGTAA (p.Asn310fs)
|
|
|
NM_016156.6(MTMR2):c.947dup (p.Phe317fs)
|
|
|
NM_018972.2(GDAP1):c.[347T>C];[62delA]
|
|
|
NM_018972.4(GDAP1):c.1019dup (p.Arg341fs)
|
rs756461496
|
|
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter)
|
rs761035569
|
|
NM_018972.4(GDAP1):c.116del (p.Lys39fs)
|
rs778547659
|
|
NM_018972.4(GDAP1):c.139A>T (p.Lys47Ter)
|
|
|
NM_018972.4(GDAP1):c.13C>T (p.Gln5Ter)
|
rs2131493453
|
|
NM_018972.4(GDAP1):c.167dup (p.Ser57fs)
|
|
|
NM_018972.4(GDAP1):c.174_176delinsTGTG (p.Pro59fs)
|
rs1586795216
|
|
NM_018972.4(GDAP1):c.1A>G (p.Met1Val)
|
|
|
NM_018972.4(GDAP1):c.1del (p.Met1fs)
|
|
|
NM_018972.4(GDAP1):c.22C>T (p.Gln8Ter)
|
rs1586794015
|
|
NM_018972.4(GDAP1):c.235_239del (p.Val79fs)
|
rs1243845978
|
|
NM_018972.4(GDAP1):c.250G>T (p.Glu84Ter)
|
rs1808867656
|
|
NM_018972.4(GDAP1):c.250del (p.Glu84fs)
|
rs1241632021
|
|
NM_018972.4(GDAP1):c.27_28del (p.Gly10fs)
|
rs2131493519
|
|
NM_018972.4(GDAP1):c.310+1G>A
|
rs1808872865
|
|
NM_018972.4(GDAP1):c.361del (p.Val121fs)
|
rs2131512540
|
|
NM_018972.4(GDAP1):c.367del (p.His123fs)
|
|
|
NM_018972.4(GDAP1):c.368A>G (p.His123Arg)
|
rs397515442
|
|
NM_018972.4(GDAP1):c.376G>A (p.Glu126Lys)
|
rs879254005
|
|
NM_018972.4(GDAP1):c.395del (p.Pro132fs)
|
|
|
NM_018972.4(GDAP1):c.445G>T (p.Asp149Tyr)
|
rs1443963090
|
|
NM_018972.4(GDAP1):c.467C>G (p.Ala156Gly)
|
rs397515441
|
|
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro)
|
rs104894079
|
|
NM_018972.4(GDAP1):c.482G>A (p.Arg161His)
|
rs104894076
|
|
NM_018972.4(GDAP1):c.503_504del (p.Glu168fs)
|
rs1221804567
|
|
NM_018972.4(GDAP1):c.536del (p.Pro179fs)
|
rs1169652308
|
|
NM_018972.4(GDAP1):c.549del (p.Ala184fs)
|
|
|
NM_018972.4(GDAP1):c.550dup (p.Ala184fs)
|
|
|
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter)
|
rs1554547986
|
|
NM_018972.4(GDAP1):c.577A>T (p.Lys193Ter)
|
rs1085307665
|
|
NM_018972.4(GDAP1):c.579+1G>A
|
rs864622501
|
|
NM_018972.4(GDAP1):c.579del (p.Lys193fs)
|
rs1060500979
|
|
NM_018972.4(GDAP1):c.618dup (p.Lys207fs)
|
rs1809447471
|
|
NM_018972.4(GDAP1):c.694+1G>A
|
rs1183978180
|
|
NM_018972.4(GDAP1):c.703C>T (p.Gln235Ter)
|
rs1554548334
|
|
NM_018972.4(GDAP1):c.714G>A (p.Trp238Ter)
|
|
|
NM_018972.4(GDAP1):c.786del (p.Phe263fs)
|
rs1060500978
|
|
NM_018972.4(GDAP1):c.839A>C (p.Tyr280Ser)
|
rs1417699318
|
|
NM_018972.4(GDAP1):c.840del (p.Tyr279_Tyr280insTer)
|
rs1586807387
|
|
NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln)
|
rs1323153568
|
|
NM_018972.4(GDAP1):c.92G>A (p.Trp31Ter)
|
rs121908112
|
|
NM_018972.4(GDAP1):c.934del (p.Ala312fs)
|
|
|
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp)
|
rs397515432
|
|
NM_024577.4(SH3TC2):c.1005del (p.Ser335fs)
|
rs2127398588
|
|
NM_024577.4(SH3TC2):c.1090del (p.Leu364fs)
|
rs2127398558
|
|
NM_024577.4(SH3TC2):c.1178-1G>A
|
rs80338922
|
|
NM_024577.4(SH3TC2):c.1228dup (p.Glu410fs)
|
|
|
NM_024577.4(SH3TC2):c.1267G>T (p.Glu423Ter)
|
|
|
NM_024577.4(SH3TC2):c.1366del (p.Asp455_Leu456insTer)
|
rs1580901363
|
|
NM_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter)
|
rs1580901350
|
|
NM_024577.4(SH3TC2):c.1462_1465dup (p.Phe489Ter)
|
|
|
NM_024577.4(SH3TC2):c.1520_1523del (p.Phe507fs)
|
rs1561765311
|
|
NM_024577.4(SH3TC2):c.1546A>T (p.Lys516Ter)
|
rs2127397561
|
|
NM_024577.4(SH3TC2):c.1550G>A (p.Trp517Ter)
|
|
|
NM_024577.4(SH3TC2):c.1556_1557insCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAANNNNNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGTGGGCCAAG (p.Lys519delinsAsnGlyTrpIleMetArgSerGlyAspArgAspHisProGlyTer)
|
rs2127397557
|
|
NM_024577.4(SH3TC2):c.1557_1558insGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAGTGGGCCAAG (p.Lys520delinsAlaGlyArgGlyGlySerCysLeuTer)
|
rs2127397555
|
|
NM_024577.4(SH3TC2):c.1586_1587delinsAG (p.Arg529Gln)
|
rs863224454
|
|
NM_024577.4(SH3TC2):c.1662del (p.Ile555fs)
|
rs863224520
|
|
NM_024577.4(SH3TC2):c.1679del (p.Gly560fs)
|
|
|
NM_024577.4(SH3TC2):c.1691A>G (p.Asp564Gly)
|
|
|
NM_024577.4(SH3TC2):c.1717dup (p.Ile573fs)
|
|
|
NM_024577.4(SH3TC2):c.1747_1748del (p.Arg583fs)
|
rs80338924
|
|
NM_024577.4(SH3TC2):c.1804del (p.Leu602fs)
|
rs1319576439
|
|
NM_024577.4(SH3TC2):c.1829dup (p.His611fs)
|
|
|
NM_024577.4(SH3TC2):c.1856T>A (p.Val619Glu)
|
rs1196218767
|
|
NM_024577.4(SH3TC2):c.1868_1869del (p.Gly623fs)
|
rs1554121691
|
|
NM_024577.4(SH3TC2):c.1894_1897delinsAAA (p.Glu632fs)
|
rs1580900758
|
|
NM_024577.4(SH3TC2):c.1897del (p.Ala633fs)
|
rs1064797314
|
|
NM_024577.4(SH3TC2):c.1998_1999del (p.Pro667fs)
|
|
|
NM_024577.4(SH3TC2):c.1A>G (p.Met1Val)
|
rs864309709
|
|
NM_024577.4(SH3TC2):c.2004del (p.Ser669fs)
|
rs1754097044
|
|
NM_024577.4(SH3TC2):c.2039dup (p.Tyr680Ter)
|
|
|
NM_024577.4(SH3TC2):c.2072_2090del (p.Ala691fs)
|
rs878855092
|
|
NM_024577.4(SH3TC2):c.2083C>T (p.Gln695Ter)
|
rs770170997
|
|
NM_024577.4(SH3TC2):c.2146C>T (p.Gln716Ter)
|
rs1561764925
|
|
NM_024577.4(SH3TC2):c.2189del (p.Gly730fs)
|
rs1580900473
|
|
NM_024577.4(SH3TC2):c.2211C>A (p.Cys737Ter)
|
rs1318388071
|
|
NM_024577.4(SH3TC2):c.2253_2256dup (p.Ser754fs)
|
|
|
NM_024577.4(SH3TC2):c.233_239del (p.Leu78fs)
|
rs2127402263
|
|
NM_024577.4(SH3TC2):c.2389del (p.Glu797fs)
|
|
|
NM_024577.4(SH3TC2):c.2418T>G (p.Tyr806Ter)
|
rs1561764735
|
|
NM_024577.4(SH3TC2):c.2491_2492del (p.Leu832fs)
|
rs80338929
|
|
NM_024577.4(SH3TC2):c.2551_2554dup (p.Val852fs)
|
rs1754081385
|
|
NM_024577.4(SH3TC2):c.2599C>T (p.Gln867Ter)
|
rs2127397072
|
|
NM_024577.4(SH3TC2):c.287C>T (p.Ser96Leu)
|
rs2127401458
|
|
NM_024577.4(SH3TC2):c.2910C>A (p.Tyr970Ter)
|
|
|
NM_024577.4(SH3TC2):c.2989del (p.Arg997fs)
|
rs1174949678
|
|
NM_024577.4(SH3TC2):c.3013G>T (p.Glu1005Ter)
|
rs147895061
|
|
NM_024577.4(SH3TC2):c.3040del (p.Asn1013_Leu1014insTer)
|
|
|
NM_024577.4(SH3TC2):c.3078C>A (p.Cys1026Ter)
|
rs2127393407
|
|
NM_024577.4(SH3TC2):c.307C>T (p.Gln103Ter)
|
|
|
NM_024577.4(SH3TC2):c.3141del (p.Trp1047fs)
|
|
|
NM_024577.4(SH3TC2):c.3154C>T (p.Arg1052Ter)
|
rs370115218
|
|
NM_024577.4(SH3TC2):c.3303del (p.Arg1101fs)
|
rs864622664
|
|
NM_024577.4(SH3TC2):c.3321C>A (p.Tyr1107Ter)
|
rs1580889866
|
|
NM_024577.4(SH3TC2):c.3327+1G>A
|
rs2127392839
|
|
NM_024577.4(SH3TC2):c.3328-1G>T
|
rs1554120331
|
|
NM_024577.4(SH3TC2):c.3341del (p.Pro1114fs)
|
rs80338936
|
|
NM_024577.4(SH3TC2):c.3425_3435del (p.Tyr1142fs)
|
rs1222150652
|
|
NM_024577.4(SH3TC2):c.3504_3518del (p.Phe1169_Ala1173del)
|
|
|
NM_024577.4(SH3TC2):c.3508_3516del (p.His1170_Leu1172del)
|
rs1753702797
|
|
NM_024577.4(SH3TC2):c.3601C>T (p.Gln1201Ter)
|
rs80338937
|
|
NM_024577.4(SH3TC2):c.3675+2dup
|
rs1554120215
|
|
NM_024577.4(SH3TC2):c.3676-8G>A
|
rs772823083
|
|
NM_024577.4(SH3TC2):c.383T>G (p.Leu128Ter)
|
rs1754425628
|
|
NM_024577.4(SH3TC2):c.496G>T (p.Glu166Ter)
|
rs1554122847
|
|
NM_024577.4(SH3TC2):c.524del (p.Gln175fs)
|
rs1561770179
|
|
NM_024577.4(SH3TC2):c.530-2A>G
|
rs80338920
|
|
NM_024577.4(SH3TC2):c.54dup (p.Lys19Ter)
|
rs1580917136
|
|
NM_024577.4(SH3TC2):c.58G>T (p.Glu20Ter)
|
rs1580917130
|
|
NM_024577.4(SH3TC2):c.591C>A (p.Cys197Ter)
|
|
|
NM_024577.4(SH3TC2):c.620C>G (p.Ser207Ter)
|
rs1754371447
|
|
NM_024577.4(SH3TC2):c.676C>T (p.Gln226Ter)
|
rs2127400649
|
|
NM_024577.4(SH3TC2):c.731+2T>G
|
rs2127400622
|
|
NM_024577.4(SH3TC2):c.805+2T>C
|
rs139052887
|
|
NM_024577.4(SH3TC2):c.819dup (p.Lys274Ter)
|
rs1754320158
|
|
NM_024577.4(SH3TC2):c.820_821insT (p.Lys274fs)
|
rs879253859
|
|
NM_024577.4(SH3TC2):c.822_850dup (p.Lys284delinsArgProTer)
|
rs1754319130
|
|
NM_024577.4(SH3TC2):c.920G>A (p.Trp307Ter)
|
rs80338921
|
|
NM_024577.4(SH3TC2):c.929dup (p.Ser312fs)
|
rs2127399983
|
|
NM_024577.4(SH3TC2):c.96_99dup (p.Ala34fs)
|
|
|
NM_024577.4(SH3TC2):c.974del (p.Asn325fs)
|
rs1580907885
|
|
NM_030962.4(SBF2):c.1088_1296+646del
|
|
|
NM_030962.4(SBF2):c.1459C>T (p.Arg487Ter)
|
rs120074139
|
|
NM_030962.4(SBF2):c.1516del (p.Gln506fs)
|
|
|
NM_030962.4(SBF2):c.192_193dup (p.Phe65fs)
|
rs1949709115
|
|
NM_030962.4(SBF2):c.1951C>T (p.Gln651Ter)
|
rs1564923441
|
|
NM_030962.4(SBF2):c.2055T>G (p.Tyr685Ter)
|
rs2134006623
|
|
NM_030962.4(SBF2):c.2287dup (p.Thr763fs)
|
|
|
NM_030962.4(SBF2):c.2536+1G>A
|
rs1060500001
|
|
NM_030962.4(SBF2):c.2655_2658del (p.Cys886fs)
|
|
|
NM_030962.4(SBF2):c.2850_2851insGCCT (p.Thr951fs)
|
|
|
NM_030962.4(SBF2):c.2875C>T (p.Gln959Ter)
|
rs120074137
|
|
NM_030962.4(SBF2):c.331C>T (p.Gln111Ter)
|
|
|
NM_030962.4(SBF2):c.3336del (p.Ala1113fs)
|
|
|
NM_030962.4(SBF2):c.3586C>T (p.Arg1196Ter)
|
rs120074138
|
|
NM_030962.4(SBF2):c.387T>A (p.Tyr129Ter)
|
|
|
NM_030962.4(SBF2):c.4187dup (p.Ser1397fs)
|
|
|
NM_030962.4(SBF2):c.4296T>G (p.Tyr1432Ter)
|
|
|
NM_030962.4(SBF2):c.4297dup (p.Arg1433fs)
|
|
|
NM_030962.4(SBF2):c.4363C>T (p.Gln1455Ter)
|
|
|
NM_030962.4(SBF2):c.4443+1G>A
|
rs1564872328
|
|
NM_030962.4(SBF2):c.4443+1G>C
|
rs1564872328
|
|
NM_030962.4(SBF2):c.4877del (p.Pro1626fs)
|
rs1852575488
|
|
NM_030962.4(SBF2):c.5037+1G>A
|
rs1060499999
|
|
NM_030962.4(SBF2):c.5037+1G>C
|
rs1060499999
|
|
NM_030962.4(SBF2):c.5203C>T (p.Gln1735Ter)
|
rs1590076969
|
|
NM_030962.4(SBF2):c.5250_5251del (p.Leu1750_Tyr1751insTer)
|
|
|
NM_030962.4(SBF2):c.610C>T (p.Gln204Ter)
|
rs141133392
|
|
NM_030962.4(SBF2):c.613C>T (p.Gln205Ter)
|
|
|
NM_030962.4(SBF2):c.724G>T (p.Glu242Ter)
|
|
|
NM_030962.4(SBF2):c.754_823del (p.Tyr252fs)
|
rs1565115957
|
|
NM_030962.4(SBF2):c.952C>T (p.Gln318Ter)
|
|
|
NM_030962.4(SBF2):c.958C>T (p.Gln320Ter)
|
|
|
NM_181882.3(PRX):c.1001_1022del (p.Gly334fs)
|
|
|
NM_181882.3(PRX):c.116_131del (p.Lys39fs)
|
|
|
NM_181882.3(PRX):c.1171del (p.Leu391fs)
|
rs2145731305
|
|
NM_181882.3(PRX):c.1194_1197del (p.Leu400fs)
|
rs1599655206
|
|
NM_181882.3(PRX):c.1552_1562delinsT (p.Pro518fs)
|
|
|
NM_181882.3(PRX):c.1574del (p.Val525fs)
|
rs752095452
|
|
NM_181882.3(PRX):c.1657del (p.Glu553fs)
|
|
|
NM_181882.3(PRX):c.1659_1660del (p.Glu553fs)
|
rs2079441396
|
|
NM_181882.3(PRX):c.165_177dup (p.Gln60fs)
|
rs1599662669
|
|
NM_181882.3(PRX):c.1951G>A (p.Asp651Asn)
|
rs3814290
|
|
NM_181882.3(PRX):c.1999del (p.Leu667fs)
|
|
|
NM_181882.3(PRX):c.2050C>T (p.Gln684Ter)
|
rs1252279085
|
|
NM_181882.3(PRX):c.205C>T (p.Arg69Ter)
|
rs2079467367
|
|
NM_181882.3(PRX):c.2180_2181del (p.Ile727fs)
|
|
|
NM_181882.3(PRX):c.2289del (p.Asp765fs)
|
rs797045102
|
|
NM_181882.3(PRX):c.2301del (p.Leu768fs)
|
|
|
NM_181882.3(PRX):c.231C>A (p.Tyr77Ter)
|
rs752192677
|
|
NM_181882.3(PRX):c.231C>G (p.Tyr77Ter)
|
rs752192677
|
|
NM_181882.3(PRX):c.2362A>T (p.Lys788Ter)
|
|
|
NM_181882.3(PRX):c.2581del (p.Leu861fs)
|
rs2145728259
|
|
NM_181882.3(PRX):c.2787del (p.Lys930fs)
|
rs754521978
|
|
NM_181882.3(PRX):c.2815_2816del (p.Ser939fs)
|
rs2145727806
|
|
NM_181882.3(PRX):c.2853dup (p.Gly952fs)
|
rs1568704829
|
|
NM_181882.3(PRX):c.2993_3000del (p.Leu998fs)
|
rs1231723888
|
|
NM_181882.3(PRX):c.3054del (p.Arg1020fs)
|
|
|
NM_181882.3(PRX):c.3098del (p.Thr1033fs)
|
rs2145727241
|
|
NM_181882.3(PRX):c.3198del (p.Phe1066fs)
|
rs1599651549
|
|
NM_181882.3(PRX):c.3275del (p.Val1092fs)
|
|
|
NM_181882.3(PRX):c.3286_3356del (p.Ile1096fs)
|
rs1555800610
|
|
NM_181882.3(PRX):c.3371C>G (p.Ser1124Ter)
|
|
|
NM_181882.3(PRX):c.3379A>T (p.Lys1127Ter)
|
rs964195568
|
|
NM_181882.3(PRX):c.353del (p.Lys118fs)
|
rs1568710514
|
|
NM_181882.3(PRX):c.3703G>T (p.Glu1235Ter)
|
rs1385904344
|
|
NM_181882.3(PRX):c.385_394dup (p.Leu132fs)
|
rs1599656972
|
|
NM_181882.3(PRX):c.458del (p.Pro153fs)
|
rs1599656851
|
|
NM_181882.3(PRX):c.586C>T (p.Arg196Ter)
|
rs104894706
|
|
NM_181882.3(PRX):c.607C>T (p.Gln203Ter)
|
rs2079456028
|
|
NM_181882.3(PRX):c.627del (p.Ala210fs)
|
rs1599656507
|
|
NM_181882.3(PRX):c.642dup (p.Arg215fs)
|
rs768074428
|
|
NM_181882.3(PRX):c.773_774dup (p.Ser259fs)
|
rs1599656136
|
|
NM_181882.3(PRX):c.979del (p.Asp327fs)
|
rs1568708792
|
|