NM_016156.6(MTMR2):c.1131C>T (p.Thr377=)
|
rs566204
|
0.28363
|
NM_016156.6(MTMR2):c.*1419G>A
|
rs496305
|
0.27825
|
NM_016156.6(MTMR2):c.*1934T>C
|
rs525404
|
0.27753
|
NM_016156.6(MTMR2):c.*1568C>T
|
rs596277
|
0.27751
|
NM_016156.6(MTMR2):c.*549G>A
|
rs611020
|
0.27729
|
NM_016156.6(MTMR2):c.8A>C (p.Lys3Thr)
|
rs3824874
|
0.27654
|
NM_016156.6(MTMR2):c.*1066T>C
|
rs16922622
|
0.07419
|
NM_016156.6(MTMR2):c.*1396C>T
|
rs16922615
|
0.07185
|
NM_016156.6(MTMR2):c.*1444C>G
|
rs149223349
|
0.04087
|
NM_016156.6(MTMR2):c.1756C>A (p.Arg586=)
|
rs61735577
|
0.04066
|
NM_016156.6(MTMR2):c.*2014T>G
|
rs112404010
|
0.03885
|
NM_016156.6(MTMR2):c.1504G>C (p.Glu502Gln)
|
rs61735578
|
0.03636
|
NM_016156.6(MTMR2):c.80+13C>T
|
rs139510268
|
0.01848
|
NM_016156.6(MTMR2):c.*2406C>T
|
rs16922613
|
0.01655
|
NM_016156.6(MTMR2):c.1233G>A (p.Thr411=)
|
rs113897932
|
0.01619
|
NM_016156.6(MTMR2):c.*1952G>A
|
rs118033833
|
0.01538
|
NM_016156.6(MTMR2):c.1634A>G (p.Asn545Ser)
|
rs558018
|
0.01295
|
NM_016156.6(MTMR2):c.*85A>C
|
rs578159
|
0.01009
|
NM_016156.6(MTMR2):c.547G>T (p.Ala183Ser)
|
rs142155860
|
0.00492
|
NM_016156.6(MTMR2):c.*1684A>C
|
rs79576160
|
0.00401
|
NM_016156.6(MTMR2):c.570+11T>C
|
rs182582445
|
0.00390
|
NM_016156.6(MTMR2):c.*837G>A
|
rs532069328
|
0.00323
|
NM_016156.6(MTMR2):c.1770+7_1770+12del
|
rs754608173
|
0.00319
|
NM_016156.6(MTMR2):c.130G>A (p.Val44Ile)
|
rs146004831
|
0.00293
|
NM_016156.6(MTMR2):c.*1826C>A
|
rs145394232
|
0.00242
|
NM_016156.6(MTMR2):c.*2187A>G
|
rs141738388
|
0.00241
|
NM_016156.6(MTMR2):c.1488C>T (p.Thr496=)
|
rs112327353
|
0.00216
|
NM_016156.6(MTMR2):c.*825G>A
|
rs192257681
|
0.00201
|
NM_016156.6(MTMR2):c.1757G>A (p.Arg586Gln)
|
rs61735576
|
0.00175
|
NM_016156.6(MTMR2):c.*207A>G
|
rs185702937
|
0.00170
|
NM_016156.6(MTMR2):c.1855T>C (p.Ser619Pro)
|
rs116750638
|
0.00169
|
NM_016156.6(MTMR2):c.*212A>C
|
rs372852182
|
0.00074
|
NM_016156.6(MTMR2):c.1805C>G (p.Ala602Gly)
|
rs76784113
|
0.00069
|
NM_016156.6(MTMR2):c.1336G>A (p.Glu446Lys)
|
rs146572467
|
0.00053
|
NM_016156.6(MTMR2):c.-81G>A
|
rs772112416
|
0.00036
|
NM_016156.6(MTMR2):c.*1089C>G
|
rs147982779
|
0.00031
|
NM_016156.6(MTMR2):c.*1888del
|
rs775823662
|
0.00029
|
NM_016156.6(MTMR2):c.1563C>A (p.Leu521=)
|
rs772490648
|
0.00026
|
NM_016156.6(MTMR2):c.1353A>G (p.Lys451=)
|
rs114336434
|
0.00021
|
NM_016156.6(MTMR2):c.1106T>C (p.Ile369Thr)
|
rs200083635
|
0.00019
|
NM_016156.6(MTMR2):c.1897G>A (p.Ala633Thr)
|
rs532885622
|
0.00017
|
NM_016156.6(MTMR2):c.*910T>A
|
rs555290971
|
0.00015
|
NM_016156.6(MTMR2):c.16A>T (p.Ser6Cys)
|
rs377006678
|
0.00014
|
NM_016156.6(MTMR2):c.604C>G (p.Pro202Ala)
|
rs186380748
|
0.00014
|
NM_016156.6(MTMR2):c.*133C>G
|
rs367677499
|
0.00013
|
NM_016156.6(MTMR2):c.33C>T (p.Gly11=)
|
rs777455436
|
0.00012
|
NM_016156.6(MTMR2):c.1303T>C (p.Leu435=)
|
rs767737380
|
0.00011
|
NM_016156.6(MTMR2):c.624A>G (p.Leu208=)
|
rs979063255
|
0.00011
|
NM_016156.6(MTMR2):c.1594-20C>A
|
rs201996397
|
0.00010
|
NM_016156.6(MTMR2):c.1741A>G (p.Ile581Val)
|
rs149476960
|
0.00010
|
NM_016156.6(MTMR2):c.1843C>G (p.Gln615Glu)
|
rs886048770
|
0.00010
|
NM_016156.6(MTMR2):c.263-3C>T
|
rs553551578
|
0.00009
|
NM_016156.6(MTMR2):c.279T>C (p.Tyr93=)
|
rs372937811
|
0.00009
|
NM_016156.6(MTMR2):c.298G>A (p.Ala100Thr)
|
rs370701984
|
0.00008
|
NM_016156.6(MTMR2):c.993+9G>C
|
rs201595704
|
0.00008
|
NM_016156.6(MTMR2):c.1861C>T (p.Arg621Ter)
|
rs753364428
|
0.00007
|
NM_016156.6(MTMR2):c.810A>C (p.Leu270Phe)
|
rs587779385
|
0.00007
|
NM_016156.6(MTMR2):c.894A>T (p.Glu298Asp)
|
rs200898934
|
0.00007
|
NM_016156.6(MTMR2):c.1395C>T (p.Gly465=)
|
rs369925329
|
0.00006
|
NM_016156.6(MTMR2):c.1402G>C (p.Asp468His)
|
rs142460913
|
0.00006
|
NM_016156.6(MTMR2):c.1431G>A (p.Ser477=)
|
rs200285624
|
0.00006
|
NM_016156.6(MTMR2):c.1461C>T (p.Val487=)
|
rs372932127
|
0.00006
|
NM_016156.6(MTMR2):c.14C>G (p.Ser5Trp)
|
rs778430688
|
0.00006
|
NM_016156.6(MTMR2):c.993+20A>T
|
rs373288455
|
0.00006
|
NM_016156.6(MTMR2):c.1386+13C>A
|
rs377431314
|
0.00005
|
NM_016156.6(MTMR2):c.1551C>T (p.Phe517=)
|
rs775961979
|
0.00005
|
NM_016156.6(MTMR2):c.54G>A (p.Arg18=)
|
rs372164252
|
0.00005
|
NM_016156.6(MTMR2):c.629A>G (p.Asp210Gly)
|
rs753316100
|
0.00005
|
NM_016156.6(MTMR2):c.80G>C (p.Ser27Thr)
|
rs879253940
|
0.00005
|
NM_016156.6(MTMR2):c.*2042G>C
|
rs923425383
|
0.00004
|
NM_016156.6(MTMR2):c.1479+17A>G
|
rs760613129
|
0.00004
|
NM_016156.6(MTMR2):c.186+9A>G
|
rs371081575
|
0.00004
|
NM_016156.6(MTMR2):c.262+4C>T
|
rs760282236
|
0.00004
|
NM_016156.6(MTMR2):c.35C>T (p.Ser12Phe)
|
rs755619139
|
0.00004
|
NM_016156.6(MTMR2):c.447T>C (p.Tyr149=)
|
rs776023078
|
0.00004
|
NM_016156.6(MTMR2):c.655-8A>G
|
rs768562214
|
0.00004
|
NM_016156.6(MTMR2):c.80+7A>G
|
rs1376851490
|
0.00004
|
NM_016156.6(MTMR2):c.*1150C>T
|
rs886048766
|
0.00003
|
NM_016156.6(MTMR2):c.*190G>A
|
rs886048769
|
0.00003
|
NM_016156.6(MTMR2):c.*335T>C
|
rs1565341245
|
0.00003
|
NM_016156.6(MTMR2):c.1190C>G (p.Ala397Gly)
|
rs145714734
|
0.00003
|
NM_016156.6(MTMR2):c.1386A>G (p.Leu462=)
|
rs139369561
|
0.00003
|
NM_016156.6(MTMR2):c.1523T>C (p.Ile508Thr)
|
rs769280444
|
0.00003
|
NM_016156.6(MTMR2):c.1851G>C (p.Glu617Asp)
|
rs369804894
|
0.00003
|
NM_016156.6(MTMR2):c.185G>A (p.Arg62Lys)
|
rs528638298
|
0.00003
|
NM_016156.6(MTMR2):c.230C>T (p.Pro77Leu)
|
rs377327553
|
0.00003
|
NM_016156.6(MTMR2):c.522C>T (p.Ser174=)
|
rs146014892
|
0.00003
|
NM_016156.6(MTMR2):c.655-19T>C
|
rs756828009
|
0.00003
|
NM_016156.6(MTMR2):c.960T>C (p.Asp320=)
|
rs776038747
|
0.00003
|
NM_016156.6(MTMR2):c.*2357T>C
|
rs886048762
|
0.00002
|
NM_016156.6(MTMR2):c.*660G>A
|
rs886048768
|
0.00002
|
NM_016156.6(MTMR2):c.-89C>G
|
rs868256702
|
0.00002
|
NM_016156.6(MTMR2):c.1101G>C (p.Lys367Asn)
|
rs747178197
|
0.00002
|
NM_016156.6(MTMR2):c.11G>C (p.Ser4Thr)
|
rs771823531
|
0.00002
|
NM_016156.6(MTMR2):c.1248T>C (p.His416=)
|
rs779618687
|
0.00002
|
NM_016156.6(MTMR2):c.1345G>A (p.Val449Met)
|
rs776520645
|
0.00002
|
NM_016156.6(MTMR2):c.1386+14C>T
|
rs756723447
|
0.00002
|
NM_016156.6(MTMR2):c.139T>C (p.Ser47Pro)
|
rs372095826
|
0.00002
|
NM_016156.6(MTMR2):c.1450A>G (p.Ile484Val)
|
rs886048771
|
0.00002
|
NM_016156.6(MTMR2):c.1479+12G>A
|
rs763917620
|
0.00002
|
NM_016156.6(MTMR2):c.1755A>T (p.Pro585=)
|
rs138036650
|
0.00002
|
NM_016156.6(MTMR2):c.1832T>C (p.Val611Ala)
|
rs1271455669
|
0.00002
|
NM_016156.6(MTMR2):c.1862G>A (p.Arg621Gln)
|
rs371925152
|
0.00002
|
NM_016156.6(MTMR2):c.1870_1878dup (p.Ser624_Ser626dup)
|
rs748069614
|
0.00002
|
NM_016156.6(MTMR2):c.22G>A (p.Glu8Lys)
|
rs756912172
|
0.00002
|
NM_016156.6(MTMR2):c.297C>T (p.Gly99=)
|
rs772347980
|
0.00002
|
NM_016156.6(MTMR2):c.350T>C (p.Met117Thr)
|
rs752402777
|
0.00002
|
NM_016156.6(MTMR2):c.356G>A (p.Arg119Gln)
|
rs759086106
|
0.00002
|
NM_016156.6(MTMR2):c.403G>A (p.Val135Ile)
|
rs951220118
|
0.00002
|
NM_016156.6(MTMR2):c.485G>A (p.Arg162Gln)
|
rs756723587
|
0.00002
|
NM_016156.6(MTMR2):c.759A>C (p.Glu253Asp)
|
rs753939570
|
0.00002
|
NM_016156.6(MTMR2):c.841A>G (p.Ile281Val)
|
rs887196115
|
0.00002
|
NM_016156.6(MTMR2):c.*1271A>G
|
rs1863141196
|
0.00001
|
NM_016156.6(MTMR2):c.*679A>C
|
rs776788118
|
0.00001
|
NM_016156.6(MTMR2):c.-82C>T
|
rs886048773
|
0.00001
|
NM_016156.6(MTMR2):c.1090C>T (p.Arg364Ter)
|
rs776757548
|
0.00001
|
NM_016156.6(MTMR2):c.1091G>A (p.Arg364Gln)
|
rs768976966
|
0.00001
|
NM_016156.6(MTMR2):c.1096C>G (p.Leu366Val)
|
rs925169921
|
0.00001
|
NM_016156.6(MTMR2):c.1121T>C (p.Ile374Thr)
|
rs114883605
|
0.00001
|
NM_016156.6(MTMR2):c.1179+7G>A
|
rs750955214
|
0.00001
|
NM_016156.6(MTMR2):c.1180-11C>T
|
rs1200941827
|
0.00001
|
NM_016156.6(MTMR2):c.1187T>C (p.Leu396Pro)
|
rs770852495
|
0.00001
|
NM_016156.6(MTMR2):c.1276C>T (p.Gln426Ter)
|
rs121434402
|
0.00001
|
NM_016156.6(MTMR2):c.1281C>A (p.Leu427=)
|
rs199542109
|
0.00001
|
NM_016156.6(MTMR2):c.1312T>C (p.Tyr438His)
|
rs1360581554
|
0.00001
|
NM_016156.6(MTMR2):c.1318C>T (p.Arg440Ter)
|
rs751677491
|
0.00001
|
NM_016156.6(MTMR2):c.1319G>A (p.Arg440Gln)
|
rs1383802560
|
0.00001
|
NM_016156.6(MTMR2):c.1328G>A (p.Arg443Gln)
|
rs1590978311
|
0.00001
|
NM_016156.6(MTMR2):c.1339G>A (p.Val447Ile)
|
rs769693714
|
0.00001
|
NM_016156.6(MTMR2):c.1362_1363del (p.Ser455fs)
|
rs1177373744
|
0.00001
|
NM_016156.6(MTMR2):c.1386+8A>C
|
rs371105248
|
0.00001
|
NM_016156.6(MTMR2):c.1387-7G>A
|
rs1279840467
|
0.00001
|
NM_016156.6(MTMR2):c.1446A>G (p.Gln482=)
|
rs376166939
|
0.00001
|
NM_016156.6(MTMR2):c.146C>G (p.Ser49Cys)
|
rs1170327910
|
0.00001
|
NM_016156.6(MTMR2):c.1479+13G>A
|
rs968902751
|
0.00001
|
NM_016156.6(MTMR2):c.1480-20T>C
|
rs371041744
|
0.00001
|
NM_016156.6(MTMR2):c.1489G>A (p.Ala497Thr)
|
rs752626893
|
0.00001
|
NM_016156.6(MTMR2):c.1511T>C (p.Phe504Ser)
|
rs1221811087
|
0.00001
|
NM_016156.6(MTMR2):c.1536A>G (p.Leu512=)
|
rs1015773638
|
0.00001
|
NM_016156.6(MTMR2):c.1594-9T>G
|
rs774704606
|
0.00001
|
NM_016156.6(MTMR2):c.1618C>T (p.Leu540=)
|
rs142687077
|
0.00001
|
NM_016156.6(MTMR2):c.162C>T (p.Ala54=)
|
rs547213836
|
0.00001
|
NM_016156.6(MTMR2):c.1630A>G (p.Ile544Val)
|
rs781368440
|
0.00001
|
NM_016156.6(MTMR2):c.1661C>T (p.Pro554Leu)
|
rs750110066
|
0.00001
|
NM_016156.6(MTMR2):c.1770G>A (p.Gln590=)
|
rs778532655
|
0.00001
|
NM_016156.6(MTMR2):c.186+16T>C
|
rs1325405868
|
0.00001
|
NM_016156.6(MTMR2):c.1900C>T (p.Gln634Ter)
|
rs923973985
|
0.00001
|
NM_016156.6(MTMR2):c.1910C>T (p.Thr637Ile)
|
rs1555056657
|
0.00001
|
NM_016156.6(MTMR2):c.197A>G (p.Glu66Gly)
|
rs756405288
|
0.00001
|
NM_016156.6(MTMR2):c.213A>G (p.Ala71=)
|
rs1402885565
|
0.00001
|
NM_016156.6(MTMR2):c.240A>C (p.Pro80=)
|
rs201920176
|
0.00001
|
NM_016156.6(MTMR2):c.248A>C (p.Asn83Thr)
|
rs757664332
|
0.00001
|
NM_016156.6(MTMR2):c.269A>T (p.Asp90Val)
|
rs147341114
|
0.00001
|
NM_016156.6(MTMR2):c.301G>A (p.Val101Ile)
|
rs1340382592
|
0.00001
|
NM_016156.6(MTMR2):c.309A>T (p.Gly103=)
|
rs114274243
|
0.00001
|
NM_016156.6(MTMR2):c.327T>G (p.Asn109Lys)
|
rs1322357085
|
0.00001
|
NM_016156.6(MTMR2):c.330T>C (p.Tyr110=)
|
rs777436469
|
0.00001
|
NM_016156.6(MTMR2):c.34T>A (p.Ser12Thr)
|
rs1867035083
|
0.00001
|
NM_016156.6(MTMR2):c.357+4A>C
|
rs863224750
|
0.00001
|
NM_016156.6(MTMR2):c.393G>C (p.Val131=)
|
rs757865509
|
0.00001
|
NM_016156.6(MTMR2):c.414T>C (p.Ile138=)
|
rs754358489
|
0.00001
|
NM_016156.6(MTMR2):c.430C>T (p.Arg144Ter)
|
rs1864438088
|
0.00001
|
NM_016156.6(MTMR2):c.458C>G (p.Thr153Ser)
|
rs1864437012
|
0.00001
|
NM_016156.6(MTMR2):c.460G>A (p.Val154Met)
|
rs1464362553
|
0.00001
|
NM_016156.6(MTMR2):c.469-9C>A
|
rs779741464
|
0.00001
|
NM_016156.6(MTMR2):c.479A>C (p.Asn160Thr)
|
rs1286568485
|
0.00001
|
NM_016156.6(MTMR2):c.494A>C (p.His165Pro)
|
rs1360315392
|
0.00001
|
NM_016156.6(MTMR2):c.507G>A (p.Gly169=)
|
rs753188177
|
0.00001
|
NM_016156.6(MTMR2):c.52C>T (p.Arg18Trp)
|
rs1177699275
|
0.00001
|
NM_016156.6(MTMR2):c.567C>T (p.Asn189=)
|
rs1864293535
|
0.00001
|
NM_016156.6(MTMR2):c.572C>T (p.Pro191Leu)
|
rs1258314907
|
0.00001
|
NM_016156.6(MTMR2):c.626A>G (p.Tyr209Cys)
|
rs967619161
|
0.00001
|
NM_016156.6(MTMR2):c.654+13T>C
|
rs1170437168
|
0.00001
|
NM_016156.6(MTMR2):c.75G>A (p.Leu25=)
|
rs1376231939
|
0.00001
|
NM_016156.6(MTMR2):c.77C>T (p.Ser26Phe)
|
rs1295900396
|
0.00001
|
NM_016156.6(MTMR2):c.791G>A (p.Arg264Lys)
|
rs1590984978
|
0.00001
|
NM_016156.6(MTMR2):c.797G>A (p.Arg266His)
|
rs775237206
|
0.00001
|
NM_016156.6(MTMR2):c.805-9C>G
|
rs767328220
|
0.00001
|
NM_016156.6(MTMR2):c.81-4G>C
|
rs757563852
|
0.00001
|
NM_016156.6(MTMR2):c.81-7T>G
|
rs750842659
|
0.00001
|
NM_016156.6(MTMR2):c.829A>C (p.Ser277Arg)
|
rs779257949
|
0.00001
|
NM_016156.6(MTMR2):c.848G>A (p.Arg283Gln)
|
rs374629187
|
0.00001
|
NM_016156.6(MTMR2):c.883C>T (p.Arg295Ter)
|
rs1171462240
|
0.00001
|
NM_016156.6(MTMR2):c.884G>A (p.Arg295Gln)
|
rs777854770
|
0.00001
|
NM_016156.6(MTMR2):c.92C>T (p.Ser31Phe)
|
rs748872681
|
0.00001
|
NM_016156.6(MTMR2):c.984T>C (p.Val328=)
|
rs116691712
|
0.00001
|
NC_000011.9:g.(?_95568444)_(95568625_?)dup
|
|
|
NC_000011.9:g.(?_95568454)_(95598860_?)del
|
|
|
NC_000011.9:g.(?_95568454)_(95657118_?)dup
|
|
|
NC_000011.9:g.(?_95574771)_(95598850_?)dup
|
|
|
NM_016156.5(MTMR2):c.-222G>C
|
rs746848952
|
|
NM_016156.6(MTMR2):c.*1036C>T
|
rs1863154187
|
|
NM_016156.6(MTMR2):c.*1100_*1103dup
|
rs886048767
|
|
NM_016156.6(MTMR2):c.*1226_*1228del
|
rs142663762
|
|
NM_016156.6(MTMR2):c.*1249G>A
|
rs1863142451
|
|
NM_016156.6(MTMR2):c.*1339T>G
|
rs547240331
|
|
NM_016156.6(MTMR2):c.*1343_*1344del
|
rs886048765
|
|
NM_016156.6(MTMR2):c.*1425A>G
|
rs886048764
|
|
NM_016156.6(MTMR2):c.*1656T>G
|
rs1006542556
|
|
NM_016156.6(MTMR2):c.*1822T>G
|
rs562826516
|
|
NM_016156.6(MTMR2):c.*2038C>G
|
rs886048763
|
|
NM_016156.6(MTMR2):c.*239A>T
|
rs574781741
|
|
NM_016156.6(MTMR2):c.*345CT[1]
|
rs762396029
|
|
NM_016156.6(MTMR2):c.*810C>G
|
rs1863164114
|
|
NM_016156.6(MTMR2):c.*987T>C
|
rs57807625
|
|
NM_016156.6(MTMR2):c.1005A>C (p.Gly335=)
|
|
|
NM_016156.6(MTMR2):c.1029T>C (p.Tyr343=)
|
|
|
NM_016156.6(MTMR2):c.1034del (p.Asn345fs)
|
rs863224516
|
|
NM_016156.6(MTMR2):c.1071T>C (p.His357=)
|
rs2135434145
|
|
NM_016156.6(MTMR2):c.1096del (p.Lys367fs)
|
|
|
NM_016156.6(MTMR2):c.10A>G (p.Ser4Gly)
|
rs1867038226
|
|
NM_016156.6(MTMR2):c.1118A>G (p.Asn373Ser)
|
rs778906960
|
|
NM_016156.6(MTMR2):c.1140G>C (p.Leu380Phe)
|
rs2135433928
|
|
NM_016156.6(MTMR2):c.1143T>G (p.Ser381=)
|
|
|
NM_016156.6(MTMR2):c.1164G>A (p.Trp388Ter)
|
rs1555060024
|
|
NM_016156.6(MTMR2):c.1170A>G (p.Glu390=)
|
rs199736240
|
|
NM_016156.6(MTMR2):c.1175T>C (p.Ile392Thr)
|
rs1555060014
|
|
NM_016156.6(MTMR2):c.1179+16T>C
|
|
|
NM_016156.6(MTMR2):c.1180-11C>G
|
|
|
NM_016156.6(MTMR2):c.1180-17A>T
|
|
|
NM_016156.6(MTMR2):c.1180-4C>T
|
|
|
NM_016156.6(MTMR2):c.1180-9G>A
|
rs1347066495
|
|
NM_016156.6(MTMR2):c.1184T>C (p.Ile395Thr)
|
rs774525225
|
|
NM_016156.6(MTMR2):c.1220A>G (p.Glu407Gly)
|
rs1863726953
|
|
NM_016156.6(MTMR2):c.1221G>C (p.Glu407Asp)
|
|
|
NM_016156.6(MTMR2):c.1236T>C (p.Ser412=)
|
|
|
NM_016156.6(MTMR2):c.1239G>A (p.Val413=)
|
|
|
NM_016156.6(MTMR2):c.1239_1240del (p.Val414fs)
|
rs1863723947
|
|
NM_016156.6(MTMR2):c.1281C>T (p.Leu427=)
|
rs199542109
|
|
NM_016156.6(MTMR2):c.1299C>T (p.Leu433=)
|
|
|
NM_016156.6(MTMR2):c.131T>C (p.Val44Ala)
|
|
|
NM_016156.6(MTMR2):c.1349A>T (p.Glu450Val)
|
|
|
NM_016156.6(MTMR2):c.1351A>G (p.Lys451Glu)
|
|
|
NM_016156.6(MTMR2):c.1363A>C (p.Ser455Arg)
|
rs1590978234
|
|
NM_016156.6(MTMR2):c.1364G>A (p.Ser455Asn)
|
rs1565348037
|
|
NM_016156.6(MTMR2):c.1375C>A (p.Arg459=)
|
|
|
NM_016156.6(MTMR2):c.1377A>T (p.Arg459=)
|
|
|
NM_016156.6(MTMR2):c.1386+13C>T
|
|
|
NM_016156.6(MTMR2):c.1386+17G>A
|
|
|
NM_016156.6(MTMR2):c.1387-13_1387-12del
|
|
|
NM_016156.6(MTMR2):c.1387-3C>T
|
rs2135417340
|
|
NM_016156.6(MTMR2):c.1387-8T>C
|
|
|
NM_016156.6(MTMR2):c.1389A>G (p.Arg463=)
|
rs2135417320
|
|
NM_016156.6(MTMR2):c.1410C>T (p.Asn470=)
|
|
|
NM_016156.6(MTMR2):c.1411C>T (p.His471Tyr)
|
rs1193305699
|
|
NM_016156.6(MTMR2):c.141A>G (p.Ser47=)
|
|
|
NM_016156.6(MTMR2):c.1425C>T (p.Asp475=)
|
rs2135417226
|
|
NM_016156.6(MTMR2):c.1431G>C (p.Ser477=)
|
rs200285624
|
|
NM_016156.6(MTMR2):c.1434T>G (p.Pro478=)
|
rs2135417185
|
|
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.1457G>C (p.Cys486Ser)
|
rs765313279
|
|
NM_016156.6(MTMR2):c.1458T>C (p.Cys486=)
|
|
|
NM_016156.6(MTMR2):c.1459_1460del (p.Val487fs)
|
rs758637255
|
|
NM_016156.6(MTMR2):c.1462T>C (p.Trp488Arg)
|
|
|
NM_016156.6(MTMR2):c.1479+19_1479+23del
|
|
|
NM_016156.6(MTMR2):c.1479+1G>A
|
rs1590974546
|
|
NM_016156.6(MTMR2):c.1480-18G>A
|
|
|
NM_016156.6(MTMR2):c.1480-4G>C
|
rs1590971136
|
|
NM_016156.6(MTMR2):c.1490dup (p.Phe498fs)
|
rs1590971080
|
|
NM_016156.6(MTMR2):c.1492T>C (p.Phe498Leu)
|
|
|
NM_016156.6(MTMR2):c.1531C>T (p.His511Tyr)
|
rs761100126
|
|
NM_016156.6(MTMR2):c.1537_1538dup (p.Ser514fs)
|
rs1555057316
|
|
NM_016156.6(MTMR2):c.1552G>A (p.Gly518Arg)
|
rs1014132718
|
|
NM_016156.6(MTMR2):c.155C>T (p.Thr52Ile)
|
rs2135548901
|
|
NM_016156.6(MTMR2):c.1562T>A (p.Leu521His)
|
rs1565344022
|
|
NM_016156.6(MTMR2):c.157T>A (p.Ser53Thr)
|
rs2135548895
|
|
NM_016156.6(MTMR2):c.1591G>T (p.Glu531Ter)
|
rs1863365049
|
|
NM_016156.6(MTMR2):c.1593+1G>A
|
rs1590970875
|
|
NM_016156.6(MTMR2):c.1593+9T>G
|
rs1590970870
|
|
NM_016156.6(MTMR2):c.1594-4A>G
|
rs1863282999
|
|
NM_016156.6(MTMR2):c.1637G>A (p.Ser546Asn)
|
rs376530848
|
|
NM_016156.6(MTMR2):c.1637G>C (p.Ser546Thr)
|
rs376530848
|
|
NM_016156.6(MTMR2):c.163G>A (p.Asp55Asn)
|
|
|
NM_016156.6(MTMR2):c.1641G>A (p.Gln547=)
|
|
|
NM_016156.6(MTMR2):c.1643T>A (p.Leu548Gln)
|
rs2135402121
|
|
NM_016156.6(MTMR2):c.1648G>T (p.Asp550Tyr)
|
rs2135402110
|
|
NM_016156.6(MTMR2):c.1651T>C (p.Phe551Leu)
|
rs1863277955
|
|
NM_016156.6(MTMR2):c.1667A>G (p.Tyr556Cys)
|
|
|
NM_016156.6(MTMR2):c.1674C>T (p.Ser558=)
|
rs1555056924
|
|
NM_016156.6(MTMR2):c.1682A>C (p.Asn561Thr)
|
|
|
NM_016156.6(MTMR2):c.1695T>C (p.Tyr565=)
|
rs1555056916
|
|
NM_016156.6(MTMR2):c.1707C>T (p.Ser569=)
|
|
|
NM_016156.6(MTMR2):c.1721A>G (p.Glu574Gly)
|
rs771548803
|
|
NM_016156.6(MTMR2):c.1723C>G (p.Leu575Val)
|
rs1863269909
|
|
NM_016156.6(MTMR2):c.1734A>G (p.Gly578=)
|
|
|
NM_016156.6(MTMR2):c.1736_1745delinsCC (p.Tyr579fs)
|
rs1863269109
|
|
NM_016156.6(MTMR2):c.1756C>G (p.Arg586Gly)
|
|
|
NM_016156.6(MTMR2):c.1756C>T (p.Arg586Trp)
|
|
|
NM_016156.6(MTMR2):c.1763A>C (p.Lys588Thr)
|
rs1863268067
|
|
NM_016156.6(MTMR2):c.1768C>T (p.Gln590Ter)
|
rs1565342506
|
|
NM_016156.6(MTMR2):c.1770+12A>G
|
rs1863265850
|
|
NM_016156.6(MTMR2):c.1770+15A>G
|
|
|
NM_016156.6(MTMR2):c.1770+18T>C
|
|
|
NM_016156.6(MTMR2):c.1770+20C>A
|
|
|
NM_016156.6(MTMR2):c.1770+3A>T
|
|
|
NM_016156.6(MTMR2):c.1770+4T>C
|
rs1565342479
|
|
NM_016156.6(MTMR2):c.1770+7G>C
|
rs908222470
|
|
NM_016156.6(MTMR2):c.1770+9_1770+20del
|
rs958180213
|
|
NM_016156.6(MTMR2):c.1771-17_1771-16del
|
|
|
NM_016156.6(MTMR2):c.1774C>T (p.Pro592Ser)
|
rs749010549
|
|
NM_016156.6(MTMR2):c.1776T>C (p.Pro592=)
|
|
|
NM_016156.6(MTMR2):c.1776T>G (p.Pro592=)
|
rs1590968097
|
|
NM_016156.6(MTMR2):c.177T>G (p.Pro59=)
|
|
|
NM_016156.6(MTMR2):c.1807A>G (p.Lys603Glu)
|
|
|
NM_016156.6(MTMR2):c.1810C>A (p.Arg604=)
|
rs138746296
|
|
NM_016156.6(MTMR2):c.1810C>T (p.Arg604Ter)
|
rs138746296
|
|
NM_016156.6(MTMR2):c.1826A>G (p.Lys609Arg)
|
|
|
NM_016156.6(MTMR2):c.1829_1830dup (p.Val611fs)
|
|
|
NM_016156.6(MTMR2):c.1830dup (p.Val611fs)
|
|
|
NM_016156.6(MTMR2):c.1843C>T (p.Gln615Ter)
|
rs886048770
|
|
NM_016156.6(MTMR2):c.1847G>A (p.Arg616Lys)
|
rs2135399090
|
|
NM_016156.6(MTMR2):c.184_186del (p.Arg62del)
|
rs141498429
|
|
NM_016156.6(MTMR2):c.1851_1852del (p.Glu617fs)
|
rs769866540
|
|
NM_016156.6(MTMR2):c.1852A>C (p.Ile618Leu)
|
rs1392067749
|
|
NM_016156.6(MTMR2):c.1856C>G (p.Ser619Cys)
|
|
|
NM_016156.6(MTMR2):c.186+19A>T
|
rs12385798
|
|
NM_016156.6(MTMR2):c.186+19_186+20delinsTA
|
|
|
NM_016156.6(MTMR2):c.186+5624TTTTA[6]
|
rs112378876
|
|
NM_016156.6(MTMR2):c.1862G>C (p.Arg621Pro)
|
rs371925152
|
|
NM_016156.6(MTMR2):c.1867A>G (p.Thr623Ala)
|
rs770755992
|
|
NM_016156.6(MTMR2):c.186G>T (p.Arg62Ser)
|
rs2135548808
|
|
NM_016156.6(MTMR2):c.187-16G>A
|
|
|
NM_016156.6(MTMR2):c.187-16G>T
|
|
|
NM_016156.6(MTMR2):c.187-17dup
|
rs1195059303
|
|
NM_016156.6(MTMR2):c.1876T>A (p.Ser626Thr)
|
|
|
NM_016156.6(MTMR2):c.1879G>A (p.Glu627Lys)
|
rs1863216623
|
|
NM_016156.6(MTMR2):c.1882A>C (p.Arg628=)
|
|
|
NM_016156.6(MTMR2):c.1882_1885dup (p.Ala629fs)
|
rs751292488
|
|
NM_016156.6(MTMR2):c.1884A>C (p.Arg628Ser)
|
rs747684213
|
|
NM_016156.6(MTMR2):c.1896T>G (p.Pro632=)
|
rs780764646
|
|
NM_016156.6(MTMR2):c.18C>T (p.Ser6=)
|
|
|
NM_016156.6(MTMR2):c.1916del (p.Val639fs)
|
rs779740723
|
|
NM_016156.6(MTMR2):c.1917C>G (p.Val639=)
|
|
|
NM_016156.6(MTMR2):c.1923T>C (p.Thr641=)
|
|
|
NM_016156.6(MTMR2):c.20_21delinsTT (p.Cys7Phe)
|
rs1867037031
|
|
NM_016156.6(MTMR2):c.212C>T (p.Ala71Val)
|
rs886048772
|
|
NM_016156.6(MTMR2):c.223G>C (p.Glu75Gln)
|
rs1237939737
|
|
NM_016156.6(MTMR2):c.22G>C (p.Glu8Gln)
|
|
|
NM_016156.6(MTMR2):c.232T>A (p.Leu78Met)
|
rs750344055
|
|
NM_016156.6(MTMR2):c.24G>C (p.Glu8Asp)
|
rs2135659936
|
|
NM_016156.6(MTMR2):c.25_26del (p.Leu10fs)
|
rs1591060788
|
|
NM_016156.6(MTMR2):c.262+5G>A
|
rs1565361115
|
|
NM_016156.6(MTMR2):c.263-14T>C
|
|
|
NM_016156.6(MTMR2):c.263-20_263-19del
|
|
|
NM_016156.6(MTMR2):c.263-9C>A
|
rs200746130
|
|
NM_016156.6(MTMR2):c.282A>G (p.Ile94Met)
|
rs769020850
|
|
NM_016156.6(MTMR2):c.289T>A (p.Phe97Ile)
|
rs1864455547
|
|
NM_016156.6(MTMR2):c.304C>T (p.Arg102Ter)
|
rs115506357
|
|
NM_016156.6(MTMR2):c.305G>A (p.Arg102Gln)
|
rs1864454618
|
|
NM_016156.6(MTMR2):c.308G>A (p.Gly103Glu)
|
rs1590997541
|
|
NM_016156.6(MTMR2):c.30T>C (p.Leu10=)
|
|
|
NM_016156.6(MTMR2):c.313C>G (p.Leu105Val)
|
rs2135475998
|
|
NM_016156.6(MTMR2):c.323C>T (p.Thr108Met)
|
|
|
NM_016156.6(MTMR2):c.349A>G (p.Met117Val)
|
rs2135475834
|
|
NM_016156.6(MTMR2):c.352G>A (p.Glu118Lys)
|
rs1864451374
|
|
NM_016156.6(MTMR2):c.355C>G (p.Arg119Gly)
|
rs142774695
|
|
NM_016156.6(MTMR2):c.355C>T (p.Arg119Trp)
|
|
|
NM_016156.6(MTMR2):c.357+16G>C
|
|
|
NM_016156.6(MTMR2):c.358-14_358-12del
|
|
|
NM_016156.6(MTMR2):c.358-15T>C
|
|
|
NM_016156.6(MTMR2):c.358-8T>C
|
|
|
NM_016156.6(MTMR2):c.370_372del (p.Val124del)
|
rs2135475047
|
|
NM_016156.6(MTMR2):c.37C>T (p.Gln13Ter)
|
|
|
NM_016156.6(MTMR2):c.404T>C (p.Val135Ala)
|
rs1864439728
|
|
NM_016156.6(MTMR2):c.408A>C (p.Glu136Asp)
|
rs1555065024
|
|
NM_016156.6(MTMR2):c.42G>A (p.Pro14=)
|
|
|
NM_016156.6(MTMR2):c.431G>A (p.Arg144Gln)
|
rs1555065007
|
|
NM_016156.6(MTMR2):c.432_434del (p.Gly145del)
|
rs1864437836
|
|
NM_016156.6(MTMR2):c.444T>G (p.Ser148=)
|
rs1555065002
|
|
NM_016156.6(MTMR2):c.450A>T (p.Gly150=)
|
|
|
NM_016156.6(MTMR2):c.454_458del (p.Glu152fs)
|
rs1590997023
|
|
NM_016156.6(MTMR2):c.45G>A (p.Ala15=)
|
|
|
NM_016156.6(MTMR2):c.463T>C (p.Cys155Arg)
|
rs1864436629
|
|
NM_016156.6(MTMR2):c.464_465del (p.Val154_Cys155insTer)
|
rs1358449243
|
|
NM_016156.6(MTMR2):c.468+12_468+16del
|
|
|
NM_016156.6(MTMR2):c.468+17G>A
|
|
|
NM_016156.6(MTMR2):c.469-3T>C
|
rs191224855
|
|
NM_016156.6(MTMR2):c.483A>G (p.Leu161=)
|
rs2135464887
|
|
NM_016156.6(MTMR2):c.484C>T (p.Arg162Ter)
|
|
|
NM_016156.6(MTMR2):c.48G>C (p.Ala16=)
|
|
|
NM_016156.6(MTMR2):c.48G>T (p.Ala16=)
|
|
|
NM_016156.6(MTMR2):c.506G>A (p.Gly169Glu)
|
rs1864296648
|
|
NM_016156.6(MTMR2):c.508C>T (p.Arg170Trp)
|
rs1419183415
|
|
NM_016156.6(MTMR2):c.523A>G (p.Ile175Val)
|
rs1864295304
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NM_016156.6(MTMR2):c.533A>G (p.Asn178Ser)
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rs1055618502
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NM_016156.6(MTMR2):c.546T>C (p.Tyr182=)
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NM_016156.6(MTMR2):c.553C>T (p.Pro185Ser)
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rs577896427
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NM_016156.6(MTMR2):c.56C>T (p.Pro19Leu)
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rs574213477
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NM_016156.6(MTMR2):c.571-12_571-11del
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NM_016156.6(MTMR2):c.571-8_571-7insG
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NM_016156.6(MTMR2):c.579dup (p.Ala194fs)
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NM_016156.6(MTMR2):c.59C>T (p.Pro20Leu)
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rs952672162
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NM_016156.6(MTMR2):c.600A>G (p.Val200=)
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NM_016156.6(MTMR2):c.60C>T (p.Pro20=)
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NM_016156.6(MTMR2):c.62G>A (p.Ser21Asn)
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NM_016156.6(MTMR2):c.630C>T (p.Asp210=)
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NM_016156.6(MTMR2):c.637T>G (p.Leu213Val)
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NM_016156.6(MTMR2):c.651G>A (p.Arg217=)
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NM_016156.6(MTMR2):c.654+11T>C
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NM_016156.6(MTMR2):c.655-13A>C
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NM_016156.6(MTMR2):c.655-4G>C
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rs745547533
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NM_016156.6(MTMR2):c.655-4G>T
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rs745547533
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NM_016156.6(MTMR2):c.655-7C>T
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rs775390447
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NM_016156.6(MTMR2):c.655-8A>C
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NM_016156.6(MTMR2):c.679A>G (p.Ile227Val)
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NM_016156.6(MTMR2):c.67G>T (p.Asp23Tyr)
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rs1225667280
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NM_016156.6(MTMR2):c.698G>A (p.Arg233Gln)
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rs758629389
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NM_016156.6(MTMR2):c.718T>A (p.Tyr240Asn)
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rs1863982879
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NM_016156.6(MTMR2):c.721C>T (p.Pro241Ser)
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rs540766159
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NM_016156.6(MTMR2):c.752C>T (p.Pro251Leu)
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NM_016156.6(MTMR2):c.753TGA[1] (p.Asp252del)
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rs878855016
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NM_016156.6(MTMR2):c.75G>C (p.Leu25Phe)
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rs1376231939
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NM_016156.6(MTMR2):c.766_767del (p.Lys256fs)
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rs769429967
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NM_016156.6(MTMR2):c.771_772del (p.Arg257fs)
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NM_016156.6(MTMR2):c.80+14C>T
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NM_016156.6(MTMR2):c.80+14_80+43del
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NM_016156.6(MTMR2):c.80+17G>T
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NM_016156.6(MTMR2):c.80+19G>T
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NM_016156.6(MTMR2):c.80+6C>T
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NM_016156.6(MTMR2):c.80+8G>A
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rs1867028752
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NM_016156.6(MTMR2):c.800T>C (p.Ile267Thr)
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rs1863978401
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NM_016156.6(MTMR2):c.804+16G>A
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rs2135442209
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NM_016156.6(MTMR2):c.804+1G>C
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rs1565351898
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NM_016156.6(MTMR2):c.804+2T>G
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rs1555061026
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NM_016156.6(MTMR2):c.804+7A>G
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rs1159867051
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NM_016156.6(MTMR2):c.804+8G>T
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NM_016156.6(MTMR2):c.805-13T>A
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NM_016156.6(MTMR2):c.805-15T>A
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NM_016156.6(MTMR2):c.805-16T>A
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NM_016156.6(MTMR2):c.805-19C>G
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NM_016156.6(MTMR2):c.805-4T>G
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NM_016156.6(MTMR2):c.805-6A>G
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rs766235741
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NM_016156.6(MTMR2):c.805-7C>G
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NM_016156.6(MTMR2):c.81-12T>C
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NM_016156.6(MTMR2):c.81-13T>C
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NM_016156.6(MTMR2):c.81-16C>T
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NM_016156.6(MTMR2):c.81-17A>G
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NM_016156.6(MTMR2):c.810A>G (p.Leu270=)
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NM_016156.6(MTMR2):c.812C>T (p.Ser271Leu)
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NM_016156.6(MTMR2):c.826G>T (p.Glu276Ter)
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rs121434403
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NM_016156.6(MTMR2):c.832C>T (p.Gln278Ter)
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rs757563721
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NM_016156.6(MTMR2):c.840A>G (p.Thr280=)
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NM_016156.6(MTMR2):c.843C>A (p.Ile281=)
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rs1217314381
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NM_016156.6(MTMR2):c.871G>A (p.Val291Met)
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NM_016156.6(MTMR2):c.874del (p.Ser292fs)
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rs1863944217
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NM_016156.6(MTMR2):c.884G>T (p.Arg295Leu)
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rs777854770
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NM_016156.6(MTMR2):c.88A>G (p.Thr30Ala)
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NM_016156.6(MTMR2):c.892G>A (p.Glu298Lys)
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rs2135439554
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NM_016156.6(MTMR2):c.8A>G (p.Lys3Arg)
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rs3824874
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NM_016156.6(MTMR2):c.907C>G (p.Leu303Val)
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NM_016156.6(MTMR2):c.909T>G (p.Leu303=)
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NM_016156.6(MTMR2):c.928_929insTGATATTTACTGAGTACAGTAA (p.Asn310fs)
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NM_016156.6(MTMR2):c.946A>T (p.Ile316Phe)
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NM_016156.6(MTMR2):c.947dup (p.Phe317fs)
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NM_016156.6(MTMR2):c.94C>G (p.His32Asp)
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rs1591025020
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NM_016156.6(MTMR2):c.94C>T (p.His32Tyr)
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rs1591025020
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NM_016156.6(MTMR2):c.959A>G (p.Asp320Gly)
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NM_016156.6(MTMR2):c.965G>A (p.Arg322Gln)
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rs2135439249
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NM_016156.6(MTMR2):c.971G>A (p.Ser324Asn)
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rs2135439231
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NM_016156.6(MTMR2):c.981T>G (p.Ala327=)
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rs2135439193
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NM_016156.6(MTMR2):c.993+1G>A
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rs1555060614
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NM_016156.6(MTMR2):c.993+20A>G
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NM_016156.6(MTMR2):c.994-15T>C
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NM_016156.6(MTMR2):c.999G>A (p.Lys333=)
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