NM_016247.4(IMPG2):c.3142C>T (p.Arg1048Trp)
|
rs770293441
|
0.00006
|
NM_016247.4(IMPG2):c.3023-6_3030dup
|
rs754995805
|
0.00004
|
NM_016247.4(IMPG2):c.370T>C (p.Phe124Leu)
|
rs201893545
|
0.00004
|
NM_016247.4(IMPG2):c.411G>A (p.Trp137Ter)
|
rs764109533
|
0.00003
|
NM_016247.4(IMPG2):c.2890C>T (p.Arg964Ter)
|
rs267606875
|
0.00002
|
NM_016247.4(IMPG2):c.667-1G>A
|
rs1334444660
|
0.00002
|
NM_016247.4(IMPG2):c.2038del (p.Glu680fs)
|
rs1706448011
|
0.00001
|
NM_016247.4(IMPG2):c.2268del (p.Asn755_Tyr756insTer)
|
rs771980888
|
0.00001
|
NM_016247.4(IMPG2):c.2716C>T (p.Arg906Ter)
|
rs267606876
|
0.00001
|
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter)
|
rs199867882
|
0.00001
|
NM_016247.4(IMPG2):c.3472A>T (p.Lys1158Ter)
|
rs1276845142
|
0.00001
|
NM_016247.4(IMPG2):c.3634G>T (p.Glu1212Ter)
|
rs878853357
|
0.00001
|
NM_016247.4(IMPG2):c.379C>T (p.Arg127Ter)
|
rs759184240
|
0.00001
|
NM_016247.4(IMPG2):c.455G>A (p.Gly152Asp)
|
rs867271343
|
0.00001
|
NM_016247.4(IMPG2):c.501+5G>A
|
rs1404077542
|
0.00001
|
NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter)
|
rs763295314
|
0.00001
|
NM_016247.4(IMPG2):c.676G>T (p.Glu226Ter)
|
rs932467788
|
0.00001
|
NM_016247.4(IMPG2):c.829-1G>T
|
rs776740276
|
0.00001
|
NC_000003.11:g.(?_100986335)_(100986395_?)del
|
|
|
NC_000003.11:g.(?_101010303)_(101010374_?)del
|
|
|
NC_000003.12:g.(?_101267511)_(101267531_?)del
|
|
|
NM_016247.4(IMPG2):c.1045del (p.Tyr349fs)
|
rs1706625164
|
|
NM_016247.4(IMPG2):c.1071T>A (p.Tyr357Ter)
|
|
|
NM_016247.4(IMPG2):c.1087C>T (p.Gln363Ter)
|
rs753747821
|
|
NM_016247.4(IMPG2):c.1100del (p.Leu367fs)
|
|
|
NM_016247.4(IMPG2):c.1100dup (p.Leu367fs)
|
rs1260931426
|
|
NM_016247.4(IMPG2):c.1240-2A>G
|
rs1706475153
|
|
NM_016247.4(IMPG2):c.1263G>A (p.Trp421Ter)
|
rs1706474422
|
|
NM_016247.4(IMPG2):c.1276_1277insC (p.Glu426fs)
|
rs1706474271
|
|
NM_016247.4(IMPG2):c.1344dup (p.Leu449fs)
|
|
|
NM_016247.4(IMPG2):c.1350G>A (p.Trp450Ter)
|
rs760477475
|
|
NM_016247.4(IMPG2):c.1483C>T (p.Gln495Ter)
|
|
|
NM_016247.4(IMPG2):c.1543G>T (p.Gly515Ter)
|
|
|
NM_016247.4(IMPG2):c.1578_1581del (p.Ser527fs)
|
rs1559643320
|
|
NM_016247.4(IMPG2):c.1589C>A (p.Ser530Ter)
|
rs1472199114
|
|
NM_016247.4(IMPG2):c.1658del (p.Val553fs)
|
rs1706456124
|
|
NM_016247.4(IMPG2):c.1680T>A (p.Tyr560Ter)
|
rs758291149
|
|
NM_016247.4(IMPG2):c.1735C>T (p.Gln579Ter)
|
|
|
NM_016247.4(IMPG2):c.1802T>A (p.Leu601Ter)
|
rs138793555
|
|
NM_016247.4(IMPG2):c.1818dup (p.Gln607fs)
|
rs1553681434
|
|
NM_016247.4(IMPG2):c.1826del (p.Val609fs)
|
rs1553681433
|
|
NM_016247.4(IMPG2):c.186_189del (p.Lys62fs)
|
rs2058802159
|
|
NM_016247.4(IMPG2):c.188_191del (p.Lys63fs)
|
rs2058802102
|
|
NM_016247.4(IMPG2):c.189dup (p.Gln64fs)
|
rs2058802149
|
|
NM_016247.4(IMPG2):c.198_201dup (p.Arg68fs)
|
|
|
NM_016247.4(IMPG2):c.2120C>A (p.Ser707Ter)
|
|
|
NM_016247.4(IMPG2):c.216_217del (p.Arg73fs)
|
|
|
NM_016247.4(IMPG2):c.2233del (p.Glu745fs)
|
rs1197126131
|
|
NM_016247.4(IMPG2):c.224G>A (p.Trp75Ter)
|
rs1263954282
|
|
NM_016247.4(IMPG2):c.2269dup (p.Glu757fs)
|
rs746117535
|
|
NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter)
|
rs786205564
|
|
NM_016247.4(IMPG2):c.2346_2347del (p.Arg782fs)
|
rs1706441535
|
|
NM_016247.4(IMPG2):c.2412_2413del (p.Ser804_Ala805insTer)
|
rs878853358
|
|
NM_016247.4(IMPG2):c.2440C>T (p.Gln814Ter)
|
rs1706439944
|
|
NM_016247.4(IMPG2):c.2481del (p.Glu828fs)
|
|
|
NM_016247.4(IMPG2):c.255dup (p.Pro86fs)
|
rs2107148760
|
|
NM_016247.4(IMPG2):c.2560C>T (p.Gln854Ter)
|
|
|
NM_016247.4(IMPG2):c.2566C>T (p.Gln856Ter)
|
rs1706436657
|
|
NM_016247.4(IMPG2):c.263del (p.Gly88fs)
|
|
|
NM_016247.4(IMPG2):c.2839C>T (p.Gln947Ter)
|
|
|
NM_016247.4(IMPG2):c.3002dup (p.Tyr1001Ter)
|
rs1706423187
|
|
NM_016247.4(IMPG2):c.3003_3004delinsAC (p.Tyr1001_Ser1002delinsTer)
|
rs1706423076
|
|
NM_016247.4(IMPG2):c.3093_3097dup (p.Glu1033fs)
|
rs2107208049
|
|
NM_016247.4(IMPG2):c.3097G>T (p.Glu1033Ter)
|
|
|
NM_016247.4(IMPG2):c.3126C>A (p.Tyr1042Ter)
|
|
|
NM_016247.4(IMPG2):c.3147del (p.Cys1050fs)
|
|
|
NM_016247.4(IMPG2):c.3159_3160del (p.Leu1053_Cys1054insTer)
|
rs2107207948
|
|
NM_016247.4(IMPG2):c.3169C>T (p.Gln1057Ter)
|
rs2107207943
|
|
NM_016247.4(IMPG2):c.3229dup (p.Cys1077fs)
|
rs779626652
|
|
NM_016247.4(IMPG2):c.3230G>T (p.Cys1077Phe)
|
rs713993049
|
|
NM_016247.4(IMPG2):c.3405_3408del (p.Glu1137fs)
|
rs1172733048
|
|
NM_016247.4(IMPG2):c.3423-7_3423-4del
|
rs534452999
|
|
NM_016247.4(IMPG2):c.3448del (p.Leu1150fs)
|
rs2107204142
|
|
NM_016247.4(IMPG2):c.3535C>T (p.Gln1179Ter)
|
|
|
NM_016247.4(IMPG2):c.44del (p.Ile14_Leu15insTer)
|
|
|
NM_016247.4(IMPG2):c.533+4_533+7del
|
rs1707008452
|
|
NM_016247.4(IMPG2):c.634del (p.Ser212fs)
|
rs1706833794
|
|
NM_016247.4(IMPG2):c.635C>G (p.Ser212Ter)
|
rs267606874
|
|
NM_016247.4(IMPG2):c.666+5G>A
|
rs775105637
|
|
NM_016247.4(IMPG2):c.68dup (p.Asp23fs)
|
rs768660614
|
|
NM_016247.4(IMPG2):c.727G>C (p.Ala243Pro)
|
rs1706811719
|
|
NM_016247.4(IMPG2):c.814G>T (p.Glu272Ter)
|
|
|
NM_016247.4(IMPG2):c.829-2A>T
|
|
|
NM_016247.4(IMPG2):c.85+2T>A
|
rs1553687118
|
|
NM_016247.4(IMPG2):c.887+430_908+274del
|
|
|
NM_016247.4(IMPG2):c.909-802_1154-539del
|
|
|
NM_016247.4(IMPG2):c.946del (p.Glu316fs)
|
rs1706627038
|
|