Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2077828_2084378delCA3260671076TSC2c.*1385-1204_*2505del
c.2883-1204_4003del
c.2966+102_4153del
c.*3415+102_*4536del
c.*3892-1207_*6905del
c.2966+102_4156del
c.2966+102_4087del
c.2838-1207_3955del
c.2871-1207_3988del
c.1623+102_2810del
c.2838-1204_4027del
c.2838-1204_3958del
c.2838-1207_4024del
c.2959+102_4077del
n.1120-1204_2240del
n.1851-1204_2971del
c.2691-1204_3811del
c.*2137-1207_*3323del
c.2727-1204_3847del
c.2966+102_4210del
c.2966+102_4207del
c.2855+102_4099del
c.2838-1204_4081del
c.2838-1207_4078del
c.2238-1207_3424del
c.3128+102_4372del
c.3000-1204_4120del
c.1622+102_2866del
16g.2079638_2084447delCA3267547534TSC2c.*1784_*2574del
c.3282_4072del
c.3363_4222del
c.*3815_*4605del
c.*4288_*6974del
c.3366_4225del
c.3366_4156del
c.3234_4024del
c.3267_4057del
c.2020_2879del
c.3237_4096del
c.3237_4027del
c.3234_4093del
c.3356_4146del
n.1519_2309del
n.2250_3040del
n.658_1448del
c.3090_3880del
c.*2533_*3392del
c.3126_3916del
n.1193_1983del
c.3366_4279del
c.3363_4276del
c.3255_4168del
c.3237_4150del
c.3234_4147del
c.2634_3493del
c.3528_4441del
c.3399_4189del
c.2022_2935del
16g.2079638_2084447dupCA3267547541TSC2c.*1784_*2574dup
c.3282_4072dup
c.3363_4222dup
c.*3815_*4605dup
c.*4288_*6974dup
c.3366_4225dup
c.3366_4156dup
c.3234_4024dup
c.3267_4057dup
c.2020_2879dup
c.3237_4096dup
c.3237_4027dup
c.3234_4093dup
c.3356_4146dup
n.1519_2309dup
n.2250_3040dup
n.658_1448dup
c.3090_3880dup
c.*2533_*3392dup
c.3126_3916dup
n.1193_1983dup
c.3366_4279dup
c.3363_4276dup
c.3255_4168dup
c.3237_4150dup
c.3234_4147dup
c.2634_3493dup
c.3528_4441dup
c.3399_4189dup
c.2022_2935dup
16g.2079824_2084382delCA3260671078TSC2c.*1815+155_*2509del
c.3313+155_4007del
c.3394+155_4157del
c.*3846+155_*4540del
c.*4319+155_*6909del
c.3397+155_4160del
c.3397+155_4091del
c.3265+155_3959del
c.3298+155_3992del
c.2051+155_2814del
c.3268+155_4031del
c.3268+155_3962del
c.3265+155_4028del
c.3387+155_4081del
n.1550+155_2244del
n.2281+155_2975del
n.12+155_1412del
n.689+155_1383del
c.3121+155_3815del
c.*2564+155_*3327del
c.3157+155_3851del
n.1224+155_1918del
c.3397+155_4214del
c.3394+155_4211del
c.3286+155_4103del
c.3268+155_4085del
c.3265+155_4082del
c.2665+155_3428del
c.3559+155_4376del
c.3430+155_4124del
c.2053+155_2870del
16g.2080166_2084449delCA3267547571TSC2c.*1817_*2576del
c.3315_4074del
c.3396_4224del
c.*3848_*4607del
c.*4321_*6976del
c.3399_4227del
c.3399_4158del
c.3267_4026del
c.3300_4059del
c.2053_2881del
c.3270_4098del
c.3270_4029del
c.3267_4095del
c.3389_4148del
n.1552_2311del
n.2283_3042del
n.14_1479del
n.691_1450del
c.3123_3882del
c.*2566_*3394del
c.3159_3918del
n.1226_1985del
c.3399_4281del
c.3396_4278del
c.3288_4170del
c.3270_4152del
c.3267_4149del
c.2667_3495del
c.3561_4443del
c.3432_4191del
c.2055_2937del
16g.2081679_2084358delCA3267547599TSC2c.*2113_*2485del
c.3611_3983del
c.3692_4133del
c.*4144_*4516del
c.*4617_*6885del
c.3695_4136del
c.3695_4067del
c.3563_3935del
c.3596_3968del
c.2349_2790del
c.3566_4007del
c.3566_3938del
c.3563_4004del
n.1343_1784del
c.3685_4057del
n.1848_2220del
n.2579_2951del
n.310_1388del
n.987_1359del
n.175_1249del
c.3419_3791del
c.*2862_*3303del
c.3455_3827del
n.1522_1894del
c.3695_4190del
c.3692_4187del
c.3584_4079del
c.3566_4061del
c.3563_4058del
c.2963_3404del
c.3857_4352del
c.3728_4100del
c.2351_2846del
16g.2081679_2084440delCA3267547592TSC2c.*2113_*2567del
c.3611_4065del
c.3692_4215del
c.*4144_*4598del
c.*4617_*6967del
c.3695_4218del
c.3695_4149del
c.3563_4017del
c.3596_4050del
c.2349_2872del
c.3566_4089del
c.3566_4020del
c.3563_4086del
n.1343_1866del
c.3685_4139del
n.1848_2302del
n.2579_3033del
n.310_1470del
n.987_1441del
n.175_1331del
c.3419_3873del
c.*2862_*3385del
c.3455_3909del
n.1522_1976del
c.3695_4272del
c.3692_4269del
c.3584_4161del
c.3566_4143del
c.3563_4140del
c.2963_3486del
c.3857_4434del
c.3728_4182del
c.2351_2928del
16g.2081679_2084447delCA3267547593TSC2c.*2113_*2574del
c.3611_4072del
c.3692_4222del
c.*4144_*4605del
c.*4617_*6974del
c.3695_4225del
c.3695_4156del
c.3563_4024del
c.3596_4057del
c.2349_2879del
c.3566_4096del
c.3566_4027del
c.3563_4093del
n.1343_1873del
c.3685_4146del
n.1848_2309del
n.2579_3040del
n.310_1477del
n.987_1448del
n.175_1338del
c.3419_3880del
c.*2862_*3392del
c.3455_3916del
n.1522_1983del
c.3695_4279del
c.3692_4276del
c.3584_4168del
c.3566_4150del
c.3563_4147del
c.2963_3493del
c.3857_4441del
c.3728_4189del
c.2351_2935del
16g.2081702_2084440delCA3267547611TSC2c.*2136_*2567del
c.3634_4065del
c.3715_4215del
c.*4167_*4598del
c.*4640_*6967del
c.3718_4218del
c.3718_4149del
c.3586_4017del
c.3619_4050del
c.2372_2872del
c.3589_4089del
c.3589_4020del
c.3586_4086del
n.1366_1866del
c.3708_4139del
n.1871_2302del
n.2602_3033del
n.333_1470del
n.1010_1441del
n.198_1331del
c.3442_3873del
c.*2885_*3385del
c.3478_3909del
n.1545_1976del
c.3718_4272del
c.3715_4269del
c.3607_4161del
c.3589_4143del
c.3586_4140del
c.2986_3486del
c.3880_4434del
c.3751_4182del
c.2374_2928del
16g.2082439_2084447delCA3267547626TSC2c.*2232+641_*2574del
c.3730+641_4072del
c.3815_4222del
c.*4263+641_*4605del
c.*5377_*6974del
c.3818_4225del
c.3814+641_4156del
c.3682+641_4024del
c.3715+641_4057del
n.510_2107del
c.2472_2879del
c.3689_4096del
c.3685+641_4027del
c.3686_4093del
n.1466_1873del
c.3804+641_4146del
n.1967+641_2309del
n.2698+641_3040del
n.1070_1477del
n.1106+641_1448del
n.935_1338del
c.3538+641_3880del
c.*2985_*3392del
c.3574+641_3916del
n.1641+641_1983del
c.3818_4279del
c.3815_4276del
c.3707_4168del
c.3689_4150del
c.3686_4147del
c.3086_3493del
c.3980_4441del
c.3847+641_4189del
c.2474_2935del
16g.2084299_2084366delCA3265648707TSC2c.*2426_*2493del (n.*2426_*2493del)
c.3924_3991del (p.Arg1310GlnfsTer?)
c.4074_4141del (p.Arg1360GlnfsTer?)
c.*4457_*4524del (n.*4457_*4524del)
c.*6826_*6893del (n.*6826_*6893del)
c.4077_4144del (p.Arg1361GlnfsTer?)
c.4008_4075del (p.Arg1338GlnfsTer?)
c.3876_3943del (p.Arg1294GlnfsTer?)
c.3909_3976del (p.Arg1305GlnfsTer?)
c.313_380del
n.1959_2026del
c.2731_2798del
c.3948_4015del (p.Arg1318GlnfsTer?)
n.259_326del
c.3879_3946del (p.Arg1295GlnfsTer?)
c.3945_4012del (p.Arg1317GlnfsTer?)
n.91_158del
n.1725_1792del
c.3998_4065del
n.2161_2228del
c.320_387del
n.2892_2959del
n.1329_1396del
n.1300_1367del
n.1190_1257del
c.3732_3799del (p.Arg1246GlnfsTer?)
c.*3244_*3311del (n.*3244_*3311del)
c.3768_3835del (p.Arg1258GlnfsTer?)
n.1835_1902del
c.259_326del
n.1192_1259del
c.4131_4198del (p.Arg1379GlnfsTer?)
c.4128_4195del (p.Arg1378GlnfsTer?)
c.4020_4087del (p.Arg1342GlnfsTer?)
c.4002_4069del (p.Arg1336GlnfsTer?)
c.3999_4066del (p.Arg1335GlnfsTer?)
c.3345_3412del (p.Arg1117GlnfsTer?)
c.4293_4360del (p.Arg1433GlnfsTer?)
c.4041_4108del (p.Arg1349GlnfsTer?)
c.2787_2854del (p.Arg931GlnfsTer?)
16g.2084327_2084447dupCA3267547640TSC2c.*2454_*2574dup (n.*2454_*2574dup)
c.3952_4072dup (p.Arg1358ProfsTer45)
c.4102_4222dup (p.Arg1408ProfsTer45)
c.*4485_*4605dup (n.*4485_*4605dup)
c.*6854_*6974dup (n.*6854_*6974dup)
c.4105_4225dup (p.Arg1409ProfsTer45)
c.4036_4156dup (p.Arg1386ProfsTer45)
c.3904_4024dup (p.Arg1342ProfsTer45)
c.3937_4057dup (p.Arg1353ProfsTer45)
c.341_461dup
n.1987_2107dup
c.2759_2879dup
c.3976_4096dup (p.Arg1366ProfsTer45)
n.287_407dup
c.3907_4027dup (p.Arg1343ProfsTer45)
c.3973_4093dup (p.Arg1365ProfsTer45)
n.119_239dup
n.1753_1873dup
c.4026_4146dup
n.2189_2309dup
c.348_468dup
n.2920_3040dup
n.1357_1477dup
n.1328_1448dup
n.1218_1338dup
c.3760_3880dup (p.Arg1294ProfsTer45)
c.*3272_*3392dup (n.*3272_*3392dup)
c.3796_3916dup (p.Arg1306ProfsTer45)
n.1863_1983dup
c.287_407dup
n.1220_1340dup
c.4159_4279dup (p.Arg1427ProfsTer45)
c.4156_4276dup (p.Arg1426ProfsTer45)
c.4048_4168dup (p.Arg1390ProfsTer45)
c.4030_4150dup (p.Arg1384ProfsTer45)
c.4027_4147dup (p.Arg1383ProfsTer45)
c.3373_3493dup (p.Arg1165ProfsTer45)
c.4321_4441dup (p.Arg1481ProfsTer45)
c.4069_4189dup (p.Arg1397ProfsTer45)
c.2815_2935dup (p.Arg979ProfsTer45)
16g.2084327_2084447delCA3267547641TSC2c.*2454_*2574del (n.*2454_*2574del)
c.3952_4072del (p.Arg1318GlyfsTer2)
c.4102_4222del (p.Arg1368GlyfsTer2)
c.*4485_*4605del (n.*4485_*4605del)
c.*6854_*6974del (n.*6854_*6974del)
c.4105_4225del (p.Arg1369GlyfsTer2)
c.4036_4156del (p.Arg1346GlyfsTer2)
c.3904_4024del (p.Arg1302GlyfsTer2)
c.3937_4057del (p.Arg1313GlyfsTer2)
c.341_461del
n.1987_2107del
c.2759_2879del
c.3976_4096del (p.Arg1326GlyfsTer2)
n.287_407del
c.3907_4027del (p.Arg1303GlyfsTer2)
c.3973_4093del (p.Arg1325GlyfsTer2)
n.119_239del
n.1753_1873del
c.4026_4146del
n.2189_2309del
c.348_468del
n.2920_3040del
n.1357_1477del
n.1328_1448del
n.1218_1338del
c.3760_3880del (p.Arg1254GlyfsTer2)
c.*3272_*3392del (n.*3272_*3392del)
c.3796_3916del (p.Arg1266GlyfsTer2)
n.1863_1983del
c.287_407del
n.1220_1340del
c.4159_4279del (p.Arg1387GlyfsTer2)
c.4156_4276del (p.Arg1386GlyfsTer2)
c.4048_4168del (p.Arg1350GlyfsTer2)
c.4030_4150del (p.Arg1344GlyfsTer2)
c.4027_4147del (p.Arg1343GlyfsTer2)
c.3373_3493del (p.Arg1125GlyfsTer2)
c.4321_4441del (p.Arg1441GlyfsTer2)
c.4069_4189del (p.Arg1357GlyfsTer2)
c.2815_2935del (p.Arg939GlyfsTer2)
16g.2084335_2084358dupCA2631118418TSC2c.*2462_*2485dup (n.*2462_*2485dup)
c.3960_3983dup (p.Ser1328_Gln1329insValAspLeuSerPheGlnProSer)
c.4110_4133dup (p.Ser1378_Gln1379insValAspLeuSerPheGlnProSer)
c.*4493_*4516dup (n.*4493_*4516dup)
c.*6862_*6885dup (n.*6862_*6885dup)
c.4113_4136dup (p.Ser1379_Gln1380insValAspLeuSerPheGlnProSer)
c.4044_4067dup (p.Ser1356_Gln1357insValAspLeuSerPheGlnProSer)
c.3912_3935dup (p.Ser1312_Gln1313insValAspLeuSerPheGlnProSer)
c.3945_3968dup (p.Ser1323_Gln1324insValAspLeuSerPheGlnProSer)
c.349_372dup
n.1995_2018dup
c.2767_2790dup
c.3984_4007dup (p.Ser1336_Gln1337insValAspLeuSerPheGlnProSer)
n.295_318dup
c.3915_3938dup (p.Ser1313_Gln1314insValAspLeuSerPheGlnProSer)
c.3981_4004dup (p.Ser1335_Gln1336insValAspLeuSerPheGlnProSer)
n.127_150dup
n.1761_1784dup
c.4034_4057dup
n.2197_2220dup
c.356_379dup
n.2928_2951dup
n.1365_1388dup
n.1336_1359dup
n.1226_1249dup
c.3768_3791dup (p.Ser1264_Gln1265insValAspLeuSerPheGlnProSer)
c.*3280_*3303dup (n.*3280_*3303dup)
c.3804_3827dup (p.Ser1276_Gln1277insValAspLeuSerPheGlnProSer)
n.1871_1894dup
c.295_318dup
n.1228_1251dup
c.4167_4190dup (p.Ser1397_Gln1398insValAspLeuSerPheGlnProSer)
c.4164_4187dup (p.Ser1396_Gln1397insValAspLeuSerPheGlnProSer)
c.4056_4079dup (p.Ser1360_Gln1361insValAspLeuSerPheGlnProSer)
c.4038_4061dup (p.Ser1354_Gln1355insValAspLeuSerPheGlnProSer)
c.4035_4058dup (p.Ser1353_Gln1354insValAspLeuSerPheGlnProSer)
c.3381_3404dup (p.Ser1135_Gln1136insValAspLeuSerPheGlnProSer)
c.4329_4352dup (p.Ser1451_Gln1452insValAspLeuSerPheGlnProSer)
c.4077_4100dup (p.Ser1367_Gln1368insValAspLeuSerPheGlnProSer)
c.2823_2846dup (p.Ser949_Gln950insValAspLeuSerPheGlnProSer)
 dbSNP gnomAD v4
16g.2084369_2084370insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGACA3249307640TSC2c.*2496_*2497insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA (n.*2496_*2497insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA)
c.3994_3995insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA (p.Leu1331_Ser1332insMetProSerValAspLeuSerPheGlnProSerGlnProLeu)
c.4144_4145insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA (p.Leu1381_Ser1382insMetProSerValAspLeuSerPheGlnProSerGlnProLeu)
c.*4527_*4528insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA (n.*4527_*4528insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA)
c.*6896_*6897insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA (n.*6896_*6897insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA)
c.4147_4148insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA (p.Leu1382_Ser1383insMetProSerValAspLeuSerPheGlnProSerGlnProLeu)
c.4078_4079insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA (p.Leu1359_Ser1360insMetProSerValAspLeuSerPheGlnProSerGlnProLeu)
c.3946_3947insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA (p.Leu1315_Ser1316insMetProSerValAspLeuSerPheGlnProSerGlnProLeu)
c.3979_3980insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA (p.Leu1326_Ser1327insMetProSerValAspLeuSerPheGlnProSerGlnProLeu)
c.383_384insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA
n.2029_2030insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA
c.2801_2802insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA
c.4018_4019insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA (p.Leu1339_Ser1340insMetProSerValAspLeuSerPheGlnProSerGlnProLeu)
n.329_330insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA
c.3949_3950insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA (p.Leu1316_Ser1317insMetProSerValAspLeuSerPheGlnProSerGlnProLeu)
c.4015_4016insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA (p.Leu1338_Ser1339insMetProSerValAspLeuSerPheGlnProSerGlnProLeu)
n.161_162insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA
n.1795_1796insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA
c.4068_4069insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA
n.2231_2232insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA
c.390_391insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA
n.2962_2963insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA
n.1399_1400insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA
n.1370_1371insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA
n.1260_1261insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA
c.3802_3803insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA (p.Leu1267_Ser1268insMetProSerValAspLeuSerPheGlnProSerGlnProLeu)
c.*3314_*3315insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA (n.*3314_*3315insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA)
c.3838_3839insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA (p.Leu1279_Ser1280insMetProSerValAspLeuSerPheGlnProSerGlnProLeu)
n.1905_1906insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA
c.329_330insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA
n.1262_1263insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA
c.4201_4202insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA (p.Leu1400_Ser1401insMetProSerValAspLeuSerPheGlnProSerGlnProLeu)
c.4198_4199insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA (p.Leu1399_Ser1400insMetProSerValAspLeuSerPheGlnProSerGlnProLeu)
c.4090_4091insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA (p.Leu1363_Ser1364insMetProSerValAspLeuSerPheGlnProSerGlnProLeu)
c.4072_4073insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA (p.Leu1357_Ser1358insMetProSerValAspLeuSerPheGlnProSerGlnProLeu)
c.4069_4070insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA (p.Leu1356_Ser1357insMetProSerValAspLeuSerPheGlnProSerGlnProLeu)
c.3415_3416insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA (p.Leu1138_Ser1139insMetProSerValAspLeuSerPheGlnProSerGlnProLeu)
c.4363_4364insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA (p.Leu1454_Ser1455insMetProSerValAspLeuSerPheGlnProSerGlnProLeu)
c.4111_4112insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA (p.Leu1370_Ser1371insMetProSerValAspLeuSerPheGlnProSerGlnProLeu)
c.2857_2858insTGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGA (p.Leu952_Ser953insMetProSerValAspLeuSerPheGlnProSerGlnProLeu)
 ClinVar
16g.2084351_2084451delCA3265648708TSC2c.*2478_*2578del (n.*2478_*2578del)
c.3976_4076del (p.Gln1326GlufsTer3)
c.4126_4226del (p.Gln1376GlufsTer3)
c.*4509_*4609del (n.*4509_*4609del)
c.*6878_*6978del (n.*6878_*6978del)
c.4129_4229del (p.Gln1377GlufsTer3)
c.4060_4160del (p.Gln1354GlufsTer3)
c.3928_4028del (p.Gln1310GlufsTer3)
c.3961_4061del (p.Gln1321GlufsTer3)
c.365_465del
n.2011_2111del
c.2783_2883del
c.4000_4100del (p.Gln1334GlufsTer3)
n.311_411del
c.3931_4031del (p.Gln1311GlufsTer3)
c.3997_4097del (p.Gln1333GlufsTer3)
n.143_243del
n.1777_1877del
c.4050_4150del
n.2213_2313del
c.372_472del
n.2944_3044del
n.1381_1481del
n.1352_1452del
n.1242_1342del
c.3784_3884del (p.Gln1262GlufsTer3)
c.*3296_*3396del (n.*3296_*3396del)
c.3820_3920del (p.Gln1274GlufsTer3)
n.1887_1987del
c.311_411del
n.1244_1344del
c.4183_4283del (p.Gln1395GlufsTer3)
c.4180_4280del (p.Gln1394GlufsTer3)
c.4072_4172del (p.Gln1358GlufsTer3)
c.4054_4154del (p.Gln1352GlufsTer3)
c.4051_4151del (p.Gln1351GlufsTer3)
c.3397_3497del (p.Gln1133GlufsTer3)
c.4345_4445del (p.Gln1449GlufsTer3)
c.4093_4193del (p.Gln1365GlufsTer3)
c.2839_2939del (p.Gln947GlufsTer3)
16g.2084355_2084357delinsCCTCA2202043948TSC2c.*2482_*2484delinsCCT (n.*2482_*2484delinsCCT)
c.3980_3982delinsCCT (p.Pro1327=)
c.4130_4132delinsCCT (p.Pro1377=)
c.*4513_*4515delinsCCT (n.*4513_*4515delinsCCT)
c.*6882_*6884delinsCCT (n.*6882_*6884delinsCCT)
c.4133_4135delinsCCT (p.Pro1378=)
c.4064_4066delinsCCT (p.Pro1355=)
c.3932_3934delinsCCT (p.Pro1311=)
c.3965_3967delinsCCT (p.Pro1322=)
c.369_371delinsCCT
n.2015_2017delinsCCT
c.2787_2789delinsCCT
c.4004_4006delinsCCT (p.Pro1335=)
n.315_317delinsCCT
c.3935_3937delinsCCT (p.Pro1312=)
c.4001_4003delinsCCT (p.Pro1334=)
n.147_149delinsCCT
n.1781_1783delinsCCT
c.4054_4056delinsCCT
n.2217_2219delinsCCT
c.376_378delinsCCT
n.2948_2950delinsCCT
n.1385_1387delinsCCT
n.1356_1358delinsCCT
n.1246_1248delinsCCT
c.3788_3790delinsCCT (p.Pro1263=)
c.*3300_*3302delinsCCT (n.*3300_*3302delinsCCT)
c.3824_3826delinsCCT (p.Pro1275=)
n.1891_1893delinsCCT
c.315_317delinsCCT
n.1248_1250delinsCCT
c.4187_4189delinsCCT (p.Pro1396=)
c.4184_4186delinsCCT (p.Pro1395=)
c.4076_4078delinsCCT (p.Pro1359=)
c.4058_4060delinsCCT (p.Pro1353=)
c.4055_4057delinsCCT (p.Pro1352=)
c.3401_3403delinsCCT (p.Pro1134=)
c.4349_4351delinsCCT (p.Pro1450=)
c.4097_4099delinsCCT (p.Pro1366=)
c.2843_2845delinsCCT (p.Pro948=)
16g.2084360_2084417delCA3044590149TSC2c.*2487_*2544del (n.*2487_*2544del)
c.3985_4042del (p.Gln1329GlyfsTer12)
c.4135_4192del (p.Gln1379GlyfsTer12)
c.*4518_*4575del (n.*4518_*4575del)
c.*6887_*6944del (n.*6887_*6944del)
c.4138_4195del (p.Gln1380GlyfsTer12)
c.4069_4126del (p.Gln1357GlyfsTer12)
c.3937_3994del (p.Gln1313GlyfsTer12)
c.3970_4027del (p.Gln1324GlyfsTer12)
c.374_431del
n.2020_2077del
c.2792_2849del
c.4009_4066del (p.Gln1337GlyfsTer12)
n.320_377del
c.3940_3997del (p.Gln1314GlyfsTer12)
c.4006_4063del (p.Gln1336GlyfsTer12)
n.152_209del
n.1786_1843del
c.4059_4116del
n.2222_2279del
c.381_438del
n.2953_3010del
n.1390_1447del
n.1361_1418del
n.1251_1308del
c.3793_3850del (p.Gln1265GlyfsTer12)
c.*3305_*3362del (n.*3305_*3362del)
c.3829_3886del (p.Gln1277GlyfsTer12)
n.1896_1953del
c.320_377del
n.1253_1310del
c.4192_4249del (p.Gln1398GlyfsTer12)
c.4189_4246del (p.Gln1397GlyfsTer12)
c.4081_4138del (p.Gln1361GlyfsTer12)
c.4063_4120del (p.Gln1355GlyfsTer12)
c.4060_4117del (p.Gln1354GlyfsTer12)
c.3406_3463del (p.Gln1136GlyfsTer12)
c.4354_4411del (p.Gln1452GlyfsTer12)
c.4102_4159del (p.Gln1368GlyfsTer12)
c.2848_2905del (p.Gln950GlyfsTer12)
 ClinVar
16g.2084356C>ACA493043072TSC2c.*2483C>A (n.*2483C>A)
c.3981C>A (p.Pro1327=)
c.4131C>A (p.Pro1377=)
c.*4514C>A (n.*4514C>A)
c.*6883C>A (n.*6883C>A)
c.4134C>A (p.Pro1378=)
c.4065C>A (p.Pro1355=)
c.3933C>A (p.Pro1311=)
c.3966C>A (p.Pro1322=)
c.370C>A
n.2016C>A
c.2788C>A
c.4005C>A (p.Pro1335=)
n.316C>A
c.3936C>A (p.Pro1312=)
c.4002C>A (p.Pro1334=)
n.148C>A
n.1782C>A
c.4055C>A
n.2218C>A
c.377C>A
n.2949C>A
n.1386C>A
n.1357C>A
n.1247C>A
c.3789C>A (p.Pro1263=)
c.*3301C>A (n.*3301C>A)
c.3825C>A (p.Pro1275=)
n.1892C>A
c.316C>A
n.1249C>A
c.4188C>A (p.Pro1396=)
c.4185C>A (p.Pro1395=)
c.4077C>A (p.Pro1359=)
c.4059C>A (p.Pro1353=)
c.4056C>A (p.Pro1352=)
c.3402C>A (p.Pro1134=)
c.4350C>A (p.Pro1450=)
c.4098C>A (p.Pro1366=)
c.2844C>A (p.Pro948=)
16g.2084356C=CA2202043964TSC2c.*2483C= (n.*2483C=)
c.3981C= (p.Pro1327=)
c.4131C= (p.Pro1377=)
c.*4514C= (n.*4514C=)
c.*6883C= (n.*6883C=)
c.4134C= (p.Pro1378=)
c.4065C= (p.Pro1355=)
c.3933C= (p.Pro1311=)
c.3966C= (p.Pro1322=)
c.370C=
n.2016C=
c.2788C=
c.4005C= (p.Pro1335=)
n.316C=
c.3936C= (p.Pro1312=)
c.4002C= (p.Pro1334=)
n.148C=
n.1782C=
c.4055C=
n.2218C=
c.377C=
n.2949C=
n.1386C=
n.1357C=
n.1247C=
c.3789C= (p.Pro1263=)
c.*3301C= (n.*3301C=)
c.3825C= (p.Pro1275=)
n.1892C=
c.316C=
n.1249C=
c.4188C= (p.Pro1396=)
c.4185C= (p.Pro1395=)
c.4077C= (p.Pro1359=)
c.4059C= (p.Pro1353=)
c.4056C= (p.Pro1352=)
c.3402C= (p.Pro1134=)
c.4350C= (p.Pro1450=)
c.4098C= (p.Pro1366=)
c.2844C= (p.Pro948=)
 dbSNP
16g.2084356C>GCA493043074TSC2c.*2483C>G (n.*2483C>G)
c.3981C>G (p.Pro1327=)
c.4131C>G (p.Pro1377=)
c.*4514C>G (n.*4514C>G)
c.*6883C>G (n.*6883C>G)
c.4134C>G (p.Pro1378=)
c.4065C>G (p.Pro1355=)
c.3933C>G (p.Pro1311=)
c.3966C>G (p.Pro1322=)
c.370C>G
n.2016C>G
c.2788C>G
c.4005C>G (p.Pro1335=)
n.316C>G
c.3936C>G (p.Pro1312=)
c.4002C>G (p.Pro1334=)
n.148C>G
n.1782C>G
c.4055C>G
n.2218C>G
c.377C>G
n.2949C>G
n.1386C>G
n.1357C>G
n.1247C>G
c.3789C>G (p.Pro1263=)
c.*3301C>G (n.*3301C>G)
c.3825C>G (p.Pro1275=)
n.1892C>G
c.316C>G
n.1249C>G
c.4188C>G (p.Pro1396=)
c.4185C>G (p.Pro1395=)
c.4077C>G (p.Pro1359=)
c.4059C>G (p.Pro1353=)
c.4056C>G (p.Pro1352=)
c.3402C>G (p.Pro1134=)
c.4350C>G (p.Pro1450=)
c.4098C>G (p.Pro1366=)
c.2844C>G (p.Pro948=)
 ClinVar dbSNP
16g.2084356C>TCA16615152TSC2c.*2483C>T (n.*2483C>T)
c.3981C>T (p.Pro1327=)
c.4131C>T (p.Pro1377=)
c.*4514C>T (n.*4514C>T)
c.*6883C>T (n.*6883C>T)
c.4134C>T (p.Pro1378=)
c.4065C>T (p.Pro1355=)
c.3933C>T (p.Pro1311=)
c.3966C>T (p.Pro1322=)
c.370C>T
n.2016C>T
c.2788C>T
c.4005C>T (p.Pro1335=)
n.316C>T
c.3936C>T (p.Pro1312=)
c.4002C>T (p.Pro1334=)
n.148C>T
n.1782C>T
c.4055C>T
n.2218C>T
c.377C>T
n.2949C>T
n.1386C>T
n.1357C>T
n.1247C>T
c.3789C>T (p.Pro1263=)
c.*3301C>T (n.*3301C>T)
c.3825C>T (p.Pro1275=)
n.1892C>T
c.316C>T
n.1249C>T
c.4188C>T (p.Pro1396=)
c.4185C>T (p.Pro1395=)
c.4077C>T (p.Pro1359=)
c.4059C>T (p.Pro1353=)
c.4056C>T (p.Pro1352=)
c.3402C>T (p.Pro1134=)
c.4350C>T (p.Pro1450=)
c.4098C>T (p.Pro1366=)
c.2844C>T (p.Pro948=)
 ClinVar dbSNP gnomAD v4
16g.2084357_2084358delCA1139664280TSC2c.*2484_*2485del (n.*2484_*2485del)
c.3982_3983del (p.Ser1328AlafsTer?)
c.4132_4133del (p.Ser1378AlafsTer?)
c.*4515_*4516del (n.*4515_*4516del)
c.*6884_*6885del (n.*6884_*6885del)
c.4135_4136del (p.Ser1379AlafsTer?)
c.4066_4067del (p.Ser1356AlafsTer?)
c.3934_3935del (p.Ser1312AlafsTer?)
c.3967_3968del (p.Ser1323AlafsTer?)
c.371_372del
n.2017_2018del
c.2789_2790del
c.4006_4007del (p.Ser1336AlafsTer?)
n.317_318del
c.3937_3938del (p.Ser1313AlafsTer?)
c.4003_4004del (p.Ser1335AlafsTer?)
n.149_150del
n.1783_1784del
c.4056_4057del
n.2219_2220del
c.378_379del
n.2950_2951del
n.1387_1388del
n.1358_1359del
n.1248_1249del
c.3790_3791del (p.Ser1264AlafsTer?)
c.*3302_*3303del (n.*3302_*3303del)
c.3826_3827del (p.Ser1276AlafsTer?)
n.1893_1894del
c.317_318del
n.1250_1251del
c.4189_4190del (p.Ser1397AlafsTer?)
c.4186_4187del (p.Ser1396AlafsTer?)
c.4078_4079del (p.Ser1360AlafsTer?)
c.4060_4061del (p.Ser1354AlafsTer?)
c.4057_4058del (p.Ser1353AlafsTer?)
c.3403_3404del (p.Ser1135AlafsTer?)
c.4351_4352del (p.Ser1451AlafsTer?)
c.4099_4100del (p.Ser1367AlafsTer?)
c.2845_2846del (p.Ser949AlafsTer?)
 ClinVar dbSNP
16g.2084357_2084382dupCA658798479TSC2c.*2484_*2509dup (n.*2484_*2509dup)
c.3982_4007dup (p.Ser1337ArgfsTer4)
c.4132_4157dup (p.Ser1387ArgfsTer4)
c.*4515_*4540dup (n.*4515_*4540dup)
c.*6884_*6909dup (n.*6884_*6909dup)
c.4135_4160dup (p.Ser1388ArgfsTer4)
c.4066_4091dup (p.Ser1365ArgfsTer4)
c.3934_3959dup (p.Ser1321ArgfsTer4)
c.3967_3992dup (p.Ser1332ArgfsTer4)
c.371_396dup
n.2017_2042dup
c.2789_2814dup
c.4006_4031dup (p.Ser1345ArgfsTer4)
n.317_342dup
c.3937_3962dup (p.Ser1322ArgfsTer4)
c.4003_4028dup (p.Ser1344ArgfsTer4)
n.149_174dup
n.1783_1808dup
c.4056_4081dup
n.2219_2244dup
c.378_403dup
n.2950_2975dup
n.1387_1412dup
n.1358_1383dup
n.1248_1273dup
c.3790_3815dup (p.Ser1273ArgfsTer4)
c.*3302_*3327dup (n.*3302_*3327dup)
c.3826_3851dup (p.Ser1285ArgfsTer4)
n.1893_1918dup
c.317_342dup
n.1250_1275dup
c.4189_4214dup (p.Ser1406ArgfsTer4)
c.4186_4211dup (p.Ser1405ArgfsTer4)
c.4078_4103dup (p.Ser1369ArgfsTer4)
c.4060_4085dup (p.Ser1363ArgfsTer4)
c.4057_4082dup (p.Ser1362ArgfsTer4)
c.3403_3428dup (p.Ser1144ArgfsTer4)
c.4351_4376dup (p.Ser1460ArgfsTer4)
c.4099_4124dup (p.Ser1376ArgfsTer4)
c.2845_2870dup (p.Ser958ArgfsTer4)
 ClinVar dbSNP
16g.2084356_2084357insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGACA3265648710TSC2c.*2483_*2484insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA (n.*2483_*2484insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA)
c.3981_3982insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA (p.Ser1328HisfsTer3)
c.4131_4132insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA (p.Ser1378HisfsTer3)
c.*4514_*4515insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA (n.*4514_*4515insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA)
c.*6883_*6884insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA (n.*6883_*6884insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA)
c.4134_4135insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA (p.Ser1379HisfsTer3)
c.4065_4066insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA (p.Ser1356HisfsTer3)
c.3933_3934insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA (p.Ser1312HisfsTer3)
c.3966_3967insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA (p.Ser1323HisfsTer3)
c.370_371insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA
n.2016_2017insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA
c.2788_2789insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA
c.4005_4006insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA (p.Ser1336HisfsTer3)
n.316_317insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA
c.3936_3937insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA (p.Ser1313HisfsTer3)
c.4002_4003insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA (p.Ser1335HisfsTer3)
n.148_149insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA
n.1782_1783insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA
c.4055_4056insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA
n.2218_2219insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA
c.377_378insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA
n.2949_2950insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA
n.1386_1387insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA
n.1357_1358insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA
n.1247_1248insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA
c.3789_3790insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA (p.Ser1264HisfsTer3)
c.*3301_*3302insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA (n.*3301_*3302insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA)
c.3825_3826insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA (p.Ser1276HisfsTer3)
n.1892_1893insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA
c.316_317insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA
n.1249_1250insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA
c.4188_4189insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA (p.Ser1397HisfsTer3)
c.4185_4186insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA (p.Ser1396HisfsTer3)
c.4077_4078insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA (p.Ser1360HisfsTer3)
c.4059_4060insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA (p.Ser1354HisfsTer3)
c.4056_4057insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA (p.Ser1353HisfsTer3)
c.3402_3403insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA (p.Ser1135HisfsTer3)
c.4350_4351insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA (p.Ser1451HisfsTer3)
c.4098_4099insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA (p.Ser1367HisfsTer3)
c.2844_2845insCATCTATAGATGACCACAGCAGTTTTCCGTTTTTGAAACTAGAATCCACAGTAAGATATAGA (p.Ser949HisfsTer3)
16g.2084357T>ACA394299612TSC2c.*2484T>A (n.*2484T>A)
c.3982T>A (p.Ser1328Thr)
c.4132T>A (p.Ser1378Thr)
c.*4515T>A (n.*4515T>A)
c.*6884T>A (n.*6884T>A)
c.4135T>A (p.Ser1379Thr)
c.4066T>A (p.Ser1356Thr)
c.3934T>A (p.Ser1312Thr)
c.3967T>A (p.Ser1323Thr)
c.371T>A
n.2017T>A
c.2789T>A
c.4006T>A (p.Ser1336Thr)
n.317T>A
c.3937T>A (p.Ser1313Thr)
c.4003T>A (p.Ser1335Thr)
n.149T>A
n.1783T>A
c.4056T>A
n.2219T>A
c.378T>A
n.2950T>A
n.1387T>A
n.1358T>A
n.1248T>A
c.3790T>A (p.Ser1264Thr)
c.*3302T>A (n.*3302T>A)
c.3826T>A (p.Ser1276Thr)
n.1893T>A
c.317T>A
n.1250T>A
c.4189T>A (p.Ser1397Thr)
c.4186T>A (p.Ser1396Thr)
c.4078T>A (p.Ser1360Thr)
c.4060T>A (p.Ser1354Thr)
c.4057T>A (p.Ser1353Thr)
c.3403T>A (p.Ser1135Thr)
c.4351T>A (p.Ser1451Thr)
c.4099T>A (p.Ser1367Thr)
c.2845T>A (p.Ser949Thr)
16g.2084357T>CCA394299614TSC2c.*2484T>C (n.*2484T>C)
c.3982T>C (p.Ser1328Pro)
c.4132T>C (p.Ser1378Pro)
c.*4515T>C (n.*4515T>C)
c.*6884T>C (n.*6884T>C)
c.4135T>C (p.Ser1379Pro)
c.4066T>C (p.Ser1356Pro)
c.3934T>C (p.Ser1312Pro)
c.3967T>C (p.Ser1323Pro)
c.371T>C
n.2017T>C
c.2789T>C
c.4006T>C (p.Ser1336Pro)
n.317T>C
c.3937T>C (p.Ser1313Pro)
c.4003T>C (p.Ser1335Pro)
n.149T>C
n.1783T>C
c.4056T>C
n.2219T>C
c.378T>C
n.2950T>C
n.1387T>C
n.1358T>C
n.1248T>C
c.3790T>C (p.Ser1264Pro)
c.*3302T>C (n.*3302T>C)
c.3826T>C (p.Ser1276Pro)
n.1893T>C
c.317T>C
n.1250T>C
c.4189T>C (p.Ser1397Pro)
c.4186T>C (p.Ser1396Pro)
c.4078T>C (p.Ser1360Pro)
c.4060T>C (p.Ser1354Pro)
c.4057T>C (p.Ser1353Pro)
c.3403T>C (p.Ser1135Pro)
c.4351T>C (p.Ser1451Pro)
c.4099T>C (p.Ser1367Pro)
c.2845T>C (p.Ser949Pro)
16g.2084357T>GCA394299615TSC2c.*2484T>G (n.*2484T>G)
c.3982T>G (p.Ser1328Ala)
c.4132T>G (p.Ser1378Ala)
c.*4515T>G (n.*4515T>G)
c.*6884T>G (n.*6884T>G)
c.4135T>G (p.Ser1379Ala)
c.4066T>G (p.Ser1356Ala)
c.3934T>G (p.Ser1312Ala)
c.3967T>G (p.Ser1323Ala)
c.371T>G
n.2017T>G
c.2789T>G
c.4006T>G (p.Ser1336Ala)
n.317T>G
c.3937T>G (p.Ser1313Ala)
c.4003T>G (p.Ser1335Ala)
n.149T>G
n.1783T>G
c.4056T>G
n.2219T>G
c.378T>G
n.2950T>G
n.1387T>G
n.1358T>G
n.1248T>G
c.3790T>G (p.Ser1264Ala)
c.*3302T>G (n.*3302T>G)
c.3826T>G (p.Ser1276Ala)
n.1893T>G
c.317T>G
n.1250T>G
c.4189T>G (p.Ser1397Ala)
c.4186T>G (p.Ser1396Ala)
c.4078T>G (p.Ser1360Ala)
c.4060T>G (p.Ser1354Ala)
c.4057T>G (p.Ser1353Ala)
c.3403T>G (p.Ser1135Ala)
c.4351T>G (p.Ser1451Ala)
c.4099T>G (p.Ser1367Ala)
c.2845T>G (p.Ser949Ala)
16g.2084358C>ACA019985TSC2c.*2485C>A (n.*2485C>A)
c.3983C>A (p.Ser1328Ter)
c.4133C>A (p.Ser1378Ter)
c.*4516C>A (n.*4516C>A)
c.*6885C>A (n.*6885C>A)
c.4136C>A (p.Ser1379Ter)
c.4067C>A (p.Ser1356Ter)
c.3935C>A (p.Ser1312Ter)
c.3968C>A (p.Ser1323Ter)
c.372C>A
n.2018C>A
c.2790C>A
c.4007C>A (p.Ser1336Ter)
n.318C>A
c.3938C>A (p.Ser1313Ter)
c.4004C>A (p.Ser1335Ter)
n.150C>A
n.1784C>A
c.4057C>A
n.2220C>A
c.379C>A
n.2951C>A
n.1388C>A
n.1359C>A
n.1249C>A
c.3791C>A (p.Ser1264Ter)
c.*3303C>A (n.*3303C>A)
c.3827C>A (p.Ser1276Ter)
n.1894C>A
c.318C>A
n.1251C>A
c.4190C>A (p.Ser1397Ter)
c.4187C>A (p.Ser1396Ter)
c.4079C>A (p.Ser1360Ter)
c.4061C>A (p.Ser1354Ter)
c.4058C>A (p.Ser1353Ter)
c.3404C>A (p.Ser1135Ter)
c.4352C>A (p.Ser1451Ter)
c.4100C>A (p.Ser1367Ter)
c.2846C>A (p.Ser949Ter)
 ClinVar dbSNP
16g.2084358C=CA2202043977TSC2c.*2485C= (n.*2485C=)
c.3983C= (p.Ser1328=)
c.4133C= (p.Ser1378=)
c.*4516C= (n.*4516C=)
c.*6885C= (n.*6885C=)
c.4136C= (p.Ser1379=)
c.4067C= (p.Ser1356=)
c.3935C= (p.Ser1312=)
c.3968C= (p.Ser1323=)
c.372C=
n.2018C=
c.2790C=
c.4007C= (p.Ser1336=)
n.318C=
c.3938C= (p.Ser1313=)
c.4004C= (p.Ser1335=)
n.150C=
n.1784C=
c.4057C=
n.2220C=
c.379C=
n.2951C=
n.1388C=
n.1359C=
n.1249C=
c.3791C= (p.Ser1264=)
c.*3303C= (n.*3303C=)
c.3827C= (p.Ser1276=)
n.1894C=
c.318C=
n.1251C=
c.4190C= (p.Ser1397=)
c.4187C= (p.Ser1396=)
c.4079C= (p.Ser1360=)
c.4061C= (p.Ser1354=)
c.4058C= (p.Ser1353=)
c.3404C= (p.Ser1135=)
c.4352C= (p.Ser1451=)
c.4100C= (p.Ser1367=)
c.2846C= (p.Ser949=)
 dbSNP
16g.2084358C>GCA394299619TSC2c.*2485C>G (n.*2485C>G)
c.3983C>G (p.Ser1328Trp)
c.4133C>G (p.Ser1378Trp)
c.*4516C>G (n.*4516C>G)
c.*6885C>G (n.*6885C>G)
c.4136C>G (p.Ser1379Trp)
c.4067C>G (p.Ser1356Trp)
c.3935C>G (p.Ser1312Trp)
c.3968C>G (p.Ser1323Trp)
c.372C>G
n.2018C>G
c.2790C>G
c.4007C>G (p.Ser1336Trp)
n.318C>G
c.3938C>G (p.Ser1313Trp)
c.4004C>G (p.Ser1335Trp)
n.150C>G
n.1784C>G
c.4057C>G
n.2220C>G
c.379C>G
n.2951C>G
n.1388C>G
n.1359C>G
n.1249C>G
c.3791C>G (p.Ser1264Trp)
c.*3303C>G (n.*3303C>G)
c.3827C>G (p.Ser1276Trp)
n.1894C>G
c.318C>G
n.1251C>G
c.4190C>G (p.Ser1397Trp)
c.4187C>G (p.Ser1396Trp)
c.4079C>G (p.Ser1360Trp)
c.4061C>G (p.Ser1354Trp)
c.4058C>G (p.Ser1353Trp)
c.3404C>G (p.Ser1135Trp)
c.4352C>G (p.Ser1451Trp)
c.4100C>G (p.Ser1367Trp)
c.2846C>G (p.Ser949Trp)
 dbSNP gnomAD v4
16g.2084358C>TCA019991TSC2c.*2485C>T (n.*2485C>T)
c.3983C>T (p.Ser1328Leu)
c.4133C>T (p.Ser1378Leu)
c.*4516C>T (n.*4516C>T)
c.*6885C>T (n.*6885C>T)
c.4136C>T (p.Ser1379Leu)
c.4067C>T (p.Ser1356Leu)
c.3935C>T (p.Ser1312Leu)
c.3968C>T (p.Ser1323Leu)
c.372C>T
n.2018C>T
c.2790C>T
c.4007C>T (p.Ser1336Leu)
n.318C>T
c.3938C>T (p.Ser1313Leu)
c.4004C>T (p.Ser1335Leu)
n.150C>T
n.1784C>T
c.4057C>T
n.2220C>T
c.379C>T
n.2951C>T
n.1388C>T
n.1359C>T
n.1249C>T
c.3791C>T (p.Ser1264Leu)
c.*3303C>T (n.*3303C>T)
c.3827C>T (p.Ser1276Leu)
n.1894C>T
c.318C>T
n.1251C>T
c.4190C>T (p.Ser1397Leu)
c.4187C>T (p.Ser1396Leu)
c.4079C>T (p.Ser1360Leu)
c.4061C>T (p.Ser1354Leu)
c.4058C>T (p.Ser1353Leu)
c.3404C>T (p.Ser1135Leu)
c.4352C>T (p.Ser1451Leu)
c.4100C>T (p.Ser1367Leu)
c.2846C>T (p.Ser949Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.2084358dupCA2999387996TSC2c.*2485dup (n.*2485dup)
c.3983dup (p.Gln1329AlafsTer?)
c.4133dup (p.Gln1379AlafsTer?)
c.*4516dup (n.*4516dup)
c.*6885dup (n.*6885dup)
c.4136dup (p.Gln1380AlafsTer?)
c.4067dup (p.Gln1357AlafsTer?)
c.3935dup (p.Gln1313AlafsTer?)
c.3968dup (p.Gln1324AlafsTer?)
c.372dup
n.2018dup
c.2790dup
c.4007dup (p.Gln1337AlafsTer?)
n.318dup
c.3938dup (p.Gln1314AlafsTer?)
c.4004dup (p.Gln1336AlafsTer?)
n.150dup
n.1784dup
c.4057dup
n.2220dup
c.379dup
n.2951dup
n.1388dup
n.1359dup
n.1249dup
c.3791dup (p.Gln1265AlafsTer?)
c.*3303dup (n.*3303dup)
c.3827dup (p.Gln1277AlafsTer?)
n.1894dup
c.318dup
n.1251dup
c.4190dup (p.Gln1398AlafsTer?)
c.4187dup (p.Gln1397AlafsTer?)
c.4079dup (p.Gln1361AlafsTer?)
c.4061dup (p.Gln1355AlafsTer?)
c.4058dup (p.Gln1354AlafsTer?)
c.3404dup (p.Gln1136AlafsTer?)
c.4352dup (p.Gln1452AlafsTer?)
c.4100dup (p.Gln1368AlafsTer?)
c.2846dup (p.Gln950AlafsTer?)
16g.2084359G>ACA050539TSC2c.*2486G>A (n.*2486G>A)
c.3984G>A (p.Ser1328=)
c.4134G>A (p.Ser1378=)
c.*4517G>A (n.*4517G>A)
c.*6886G>A (n.*6886G>A)
c.4137G>A (p.Ser1379=)
c.4068G>A (p.Ser1356=)
c.3936G>A (p.Ser1312=)
c.3969G>A (p.Ser1323=)
c.373G>A
n.2019G>A
c.2791G>A
c.4008G>A (p.Ser1336=)
n.319G>A
c.3939G>A (p.Ser1313=)
c.4005G>A (p.Ser1335=)
n.151G>A
n.1785G>A
c.4058G>A
n.2221G>A
c.380G>A
n.2952G>A
n.1389G>A
n.1360G>A
n.1250G>A
c.3792G>A (p.Ser1264=)
c.*3304G>A (n.*3304G>A)
c.3828G>A (p.Ser1276=)
n.1895G>A
c.319G>A
n.1252G>A
c.4191G>A (p.Ser1397=)
c.4188G>A (p.Ser1396=)
c.4080G>A (p.Ser1360=)
c.4062G>A (p.Ser1354=)
c.4059G>A (p.Ser1353=)
c.3405G>A (p.Ser1135=)
c.4353G>A (p.Ser1451=)
c.4101G>A (p.Ser1367=)
c.2847G>A (p.Ser949=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2084359G>CCA493043077TSC2c.*2486G>C (n.*2486G>C)
c.3984G>C (p.Ser1328=)
c.4134G>C (p.Ser1378=)
c.*4517G>C (n.*4517G>C)
c.*6886G>C (n.*6886G>C)
c.4137G>C (p.Ser1379=)
c.4068G>C (p.Ser1356=)
c.3936G>C (p.Ser1312=)
c.3969G>C (p.Ser1323=)
c.373G>C
n.2019G>C
c.2791G>C
c.4008G>C (p.Ser1336=)
n.319G>C
c.3939G>C (p.Ser1313=)
c.4005G>C (p.Ser1335=)
n.151G>C
n.1785G>C
c.4058G>C
n.2221G>C
c.380G>C
n.2952G>C
n.1389G>C
n.1360G>C
n.1250G>C
c.3792G>C (p.Ser1264=)
c.*3304G>C (n.*3304G>C)
c.3828G>C (p.Ser1276=)
n.1895G>C
c.319G>C
n.1252G>C
c.4191G>C (p.Ser1397=)
c.4188G>C (p.Ser1396=)
c.4080G>C (p.Ser1360=)
c.4062G>C (p.Ser1354=)
c.4059G>C (p.Ser1353=)
c.3405G>C (p.Ser1135=)
c.4353G>C (p.Ser1451=)
c.4101G>C (p.Ser1367=)
c.2847G>C (p.Ser949=)
 dbSNP
16g.2084359G=CA2202043996TSC2c.*2486G= (n.*2486G=)
c.3984G= (p.Ser1328=)
c.4134G= (p.Ser1378=)
c.*4517G= (n.*4517G=)
c.*6886G= (n.*6886G=)
c.4137G= (p.Ser1379=)
c.4068G= (p.Ser1356=)
c.3936G= (p.Ser1312=)
c.3969G= (p.Ser1323=)
c.373G=
n.2019G=
c.2791G=
c.4008G= (p.Ser1336=)
n.319G=
c.3939G= (p.Ser1313=)
c.4005G= (p.Ser1335=)
n.151G=
n.1785G=
c.4058G=
n.2221G=
c.380G=
n.2952G=
n.1389G=
n.1360G=
n.1250G=
c.3792G= (p.Ser1264=)
c.*3304G= (n.*3304G=)
c.3828G= (p.Ser1276=)
n.1895G=
c.319G=
n.1252G=
c.4191G= (p.Ser1397=)
c.4188G= (p.Ser1396=)
c.4080G= (p.Ser1360=)
c.4062G= (p.Ser1354=)
c.4059G= (p.Ser1353=)
c.3405G= (p.Ser1135=)
c.4353G= (p.Ser1451=)
c.4101G= (p.Ser1367=)
c.2847G= (p.Ser949=)
 dbSNP
16g.2084359G>TCA10579899TSC2c.*2486G>T (n.*2486G>T)
c.3984G>T (p.Ser1328=)
c.4134G>T (p.Ser1378=)
c.*4517G>T (n.*4517G>T)
c.*6886G>T (n.*6886G>T)
c.4137G>T (p.Ser1379=)
c.4068G>T (p.Ser1356=)
c.3936G>T (p.Ser1312=)
c.3969G>T (p.Ser1323=)
c.373G>T
n.2019G>T
c.2791G>T
c.4008G>T (p.Ser1336=)
n.319G>T
c.3939G>T (p.Ser1313=)
c.4005G>T (p.Ser1335=)
n.151G>T
n.1785G>T
c.4058G>T
n.2221G>T
c.380G>T
n.2952G>T
n.1389G>T
n.1360G>T
n.1250G>T
c.3792G>T (p.Ser1264=)
c.*3304G>T (n.*3304G>T)
c.3828G>T (p.Ser1276=)
n.1895G>T
c.319G>T
n.1252G>T
c.4191G>T (p.Ser1397=)
c.4188G>T (p.Ser1396=)
c.4080G>T (p.Ser1360=)
c.4062G>T (p.Ser1354=)
c.4059G>T (p.Ser1353=)
c.3405G>T (p.Ser1135=)
c.4353G>T (p.Ser1451=)
c.4101G>T (p.Ser1367=)
c.2847G>T (p.Ser949=)
 ClinVar dbSNP gnomAD v4
16g.2084360C>ACA394299622TSC2c.*2487C>A (n.*2487C>A)
c.3985C>A (p.Gln1329Lys)
c.4135C>A (p.Gln1379Lys)
c.*4518C>A (n.*4518C>A)
c.*6887C>A (n.*6887C>A)
c.4138C>A (p.Gln1380Lys)
c.4069C>A (p.Gln1357Lys)
c.3937C>A (p.Gln1313Lys)
c.3970C>A (p.Gln1324Lys)
c.374C>A
n.2020C>A
c.2792C>A
c.4009C>A (p.Gln1337Lys)
n.320C>A
c.3940C>A (p.Gln1314Lys)
c.4006C>A (p.Gln1336Lys)
n.152C>A
n.1786C>A
c.4059C>A
n.2222C>A
c.381C>A
n.2953C>A
n.1390C>A
n.1361C>A
n.1251C>A
c.3793C>A (p.Gln1265Lys)
c.*3305C>A (n.*3305C>A)
c.3829C>A (p.Gln1277Lys)
n.1896C>A
c.320C>A
n.1253C>A
c.4192C>A (p.Gln1398Lys)
c.4189C>A (p.Gln1397Lys)
c.4081C>A (p.Gln1361Lys)
c.4063C>A (p.Gln1355Lys)
c.4060C>A (p.Gln1354Lys)
c.3406C>A (p.Gln1136Lys)
c.4354C>A (p.Gln1452Lys)
c.4102C>A (p.Gln1368Lys)
c.2848C>A (p.Gln950Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2084360C=CA2202044002TSC2c.*2487C= (n.*2487C=)
c.3985C= (p.Gln1329=)
c.4135C= (p.Gln1379=)
c.*4518C= (n.*4518C=)
c.*6887C= (n.*6887C=)
c.4138C= (p.Gln1380=)
c.4069C= (p.Gln1357=)
c.3937C= (p.Gln1313=)
c.3970C= (p.Gln1324=)
c.374C=
n.2020C=
c.2792C=
c.4009C= (p.Gln1337=)
n.320C=
c.3940C= (p.Gln1314=)
c.4006C= (p.Gln1336=)
n.152C=
n.1786C=
c.4059C=
n.2222C=
c.381C=
n.2953C=
n.1390C=
n.1361C=
n.1251C=
c.3793C= (p.Gln1265=)
c.*3305C= (n.*3305C=)
c.3829C= (p.Gln1277=)
n.1896C=
c.320C=
n.1253C=
c.4192C= (p.Gln1398=)
c.4189C= (p.Gln1397=)
c.4081C= (p.Gln1361=)
c.4063C= (p.Gln1355=)
c.4060C= (p.Gln1354=)
c.3406C= (p.Gln1136=)
c.4354C= (p.Gln1452=)
c.4102C= (p.Gln1368=)
c.2848C= (p.Gln950=)
 dbSNP
16g.2084360C>GCA394299623TSC2c.*2487C>G (n.*2487C>G)
c.3985C>G (p.Gln1329Glu)
c.4135C>G (p.Gln1379Glu)
c.*4518C>G (n.*4518C>G)
c.*6887C>G (n.*6887C>G)
c.4138C>G (p.Gln1380Glu)
c.4069C>G (p.Gln1357Glu)
c.3937C>G (p.Gln1313Glu)
c.3970C>G (p.Gln1324Glu)
c.374C>G
n.2020C>G
c.2792C>G
c.4009C>G (p.Gln1337Glu)
n.320C>G
c.3940C>G (p.Gln1314Glu)
c.4006C>G (p.Gln1336Glu)
n.152C>G
n.1786C>G
c.4059C>G
n.2222C>G
c.381C>G
n.2953C>G
n.1390C>G
n.1361C>G
n.1251C>G
c.3793C>G (p.Gln1265Glu)
c.*3305C>G (n.*3305C>G)
c.3829C>G (p.Gln1277Glu)
n.1896C>G
c.320C>G
n.1253C>G
c.4192C>G (p.Gln1398Glu)
c.4189C>G (p.Gln1397Glu)
c.4081C>G (p.Gln1361Glu)
c.4063C>G (p.Gln1355Glu)
c.4060C>G (p.Gln1354Glu)
c.3406C>G (p.Gln1136Glu)
c.4354C>G (p.Gln1452Glu)
c.4102C>G (p.Gln1368Glu)
c.2848C>G (p.Gln950Glu)
16g.2084360C>TCA019994TSC2c.*2487C>T (n.*2487C>T)
c.3985C>T (p.Gln1329Ter)
c.4135C>T (p.Gln1379Ter)
c.*4518C>T (n.*4518C>T)
c.*6887C>T (n.*6887C>T)
c.4138C>T (p.Gln1380Ter)
c.4069C>T (p.Gln1357Ter)
c.3937C>T (p.Gln1313Ter)
c.3970C>T (p.Gln1324Ter)
c.374C>T
n.2020C>T
c.2792C>T
c.4009C>T (p.Gln1337Ter)
n.320C>T
c.3940C>T (p.Gln1314Ter)
c.4006C>T (p.Gln1336Ter)
n.152C>T
n.1786C>T
c.4059C>T
n.2222C>T
c.381C>T
n.2953C>T
n.1390C>T
n.1361C>T
n.1251C>T
c.3793C>T (p.Gln1265Ter)
c.*3305C>T (n.*3305C>T)
c.3829C>T (p.Gln1277Ter)
n.1896C>T
c.320C>T
n.1253C>T
c.4192C>T (p.Gln1398Ter)
c.4189C>T (p.Gln1397Ter)
c.4081C>T (p.Gln1361Ter)
c.4063C>T (p.Gln1355Ter)
c.4060C>T (p.Gln1354Ter)
c.3406C>T (p.Gln1136Ter)
c.4354C>T (p.Gln1452Ter)
c.4102C>T (p.Gln1368Ter)
c.2848C>T (p.Gln950Ter)
 ClinVar dbSNP
16g.2084361_2084387dupCA2573151613TSC2c.*2488_*2514dup (n.*2488_*2514dup)
c.3986_4012dup (p.Ser1337_Pro1338insGlnProLeuSerLysSerSerSerSer)
c.4136_4162dup (p.Ser1387_Pro1388insGlnProLeuSerLysSerSerSerSer)
c.*4519_*4545dup (n.*4519_*4545dup)
c.*6888_*6914dup (n.*6888_*6914dup)
c.4139_4165dup (p.Ser1388_Pro1389insGlnProLeuSerLysSerSerSerSer)
c.4070_4096dup (p.Ser1365_Pro1366insGlnProLeuSerLysSerSerSerSer)
c.3938_3964dup (p.Ser1321_Pro1322insGlnProLeuSerLysSerSerSerSer)
c.3971_3997dup (p.Ser1332_Pro1333insGlnProLeuSerLysSerSerSerSer)
c.375_401dup
n.2021_2047dup
c.2793_2819dup
c.4010_4036dup (p.Ser1345_Pro1346insGlnProLeuSerLysSerSerSerSer)
n.321_347dup
c.3941_3967dup (p.Ser1322_Pro1323insGlnProLeuSerLysSerSerSerSer)
c.4007_4033dup (p.Ser1344_Pro1345insGlnProLeuSerLysSerSerSerSer)
n.153_179dup
n.1787_1813dup
c.4060_4086dup
n.2223_2249dup
c.382_408dup
n.2954_2980dup
n.1391_1417dup
n.1362_1388dup
n.1252_1278dup
c.3794_3820dup (p.Ser1273_Pro1274insGlnProLeuSerLysSerSerSerSer)
c.*3306_*3332dup (n.*3306_*3332dup)
c.3830_3856dup (p.Ser1285_Pro1286insGlnProLeuSerLysSerSerSerSer)
n.1897_1923dup
c.321_347dup
n.1254_1280dup
c.4193_4219dup (p.Ser1406_Pro1407insGlnProLeuSerLysSerSerSerSer)
c.4190_4216dup (p.Ser1405_Pro1406insGlnProLeuSerLysSerSerSerSer)
c.4082_4108dup (p.Ser1369_Pro1370insGlnProLeuSerLysSerSerSerSer)
c.4064_4090dup (p.Ser1363_Pro1364insGlnProLeuSerLysSerSerSerSer)
c.4061_4087dup (p.Ser1362_Pro1363insGlnProLeuSerLysSerSerSerSer)
c.3407_3433dup (p.Ser1144_Pro1145insGlnProLeuSerLysSerSerSerSer)
c.4355_4381dup (p.Ser1460_Pro1461insGlnProLeuSerLysSerSerSerSer)
c.4103_4129dup (p.Ser1376_Pro1377insGlnProLeuSerLysSerSerSerSer)
c.2849_2875dup (p.Ser958_Pro959insGlnProLeuSerLysSerSerSerSer)
 ClinVar dbSNP
16g.2084361A=CA2202044005TSC2c.*2488A= (n.*2488A=)
c.3986A= (p.Gln1329=)
c.4136A= (p.Gln1379=)
c.*4519A= (n.*4519A=)
c.*6888A= (n.*6888A=)
c.4139A= (p.Gln1380=)
c.4070A= (p.Gln1357=)
c.3938A= (p.Gln1313=)
c.3971A= (p.Gln1324=)
c.375A=
n.2021A=
c.2793A=
c.4010A= (p.Gln1337=)
n.321A=
c.3941A= (p.Gln1314=)
c.4007A= (p.Gln1336=)
n.153A=
n.1787A=
c.4060A=
n.2223A=
c.382A=
n.2954A=
n.1391A=
n.1362A=
n.1252A=
c.3794A= (p.Gln1265=)
c.*3306A= (n.*3306A=)
c.3830A= (p.Gln1277=)
n.1897A=
c.321A=
n.1254A=
c.4193A= (p.Gln1398=)
c.4190A= (p.Gln1397=)
c.4082A= (p.Gln1361=)
c.4064A= (p.Gln1355=)
c.4061A= (p.Gln1354=)
c.3407A= (p.Gln1136=)
c.4355A= (p.Gln1452=)
c.4103A= (p.Gln1368=)
c.2849A= (p.Gln950=)
 dbSNP
16g.2084361A>CCA394299627TSC2c.*2488A>C (n.*2488A>C)
c.3986A>C (p.Gln1329Pro)
c.4136A>C (p.Gln1379Pro)
c.*4519A>C (n.*4519A>C)
c.*6888A>C (n.*6888A>C)
c.4139A>C (p.Gln1380Pro)
c.4070A>C (p.Gln1357Pro)
c.3938A>C (p.Gln1313Pro)
c.3971A>C (p.Gln1324Pro)
c.375A>C
n.2021A>C
c.2793A>C
c.4010A>C (p.Gln1337Pro)
n.321A>C
c.3941A>C (p.Gln1314Pro)
c.4007A>C (p.Gln1336Pro)
n.153A>C
n.1787A>C
c.4060A>C
n.2223A>C
c.382A>C
n.2954A>C
n.1391A>C
n.1362A>C
n.1252A>C
c.3794A>C (p.Gln1265Pro)
c.*3306A>C (n.*3306A>C)
c.3830A>C (p.Gln1277Pro)
n.1897A>C
c.321A>C
n.1254A>C
c.4193A>C (p.Gln1398Pro)
c.4190A>C (p.Gln1397Pro)
c.4082A>C (p.Gln1361Pro)
c.4064A>C (p.Gln1355Pro)
c.4061A>C (p.Gln1354Pro)
c.3407A>C (p.Gln1136Pro)
c.4355A>C (p.Gln1452Pro)
c.4103A>C (p.Gln1368Pro)
c.2849A>C (p.Gln950Pro)
16g.2084361A>GCA394299629TSC2c.*2488A>G (n.*2488A>G)
c.3986A>G (p.Gln1329Arg)
c.4136A>G (p.Gln1379Arg)
c.*4519A>G (n.*4519A>G)
c.*6888A>G (n.*6888A>G)
c.4139A>G (p.Gln1380Arg)
c.4070A>G (p.Gln1357Arg)
c.3938A>G (p.Gln1313Arg)
c.3971A>G (p.Gln1324Arg)
c.375A>G
n.2021A>G
c.2793A>G
c.4010A>G (p.Gln1337Arg)
n.321A>G
c.3941A>G (p.Gln1314Arg)
c.4007A>G (p.Gln1336Arg)
n.153A>G
n.1787A>G
c.4060A>G
n.2223A>G
c.382A>G
n.2954A>G
n.1391A>G
n.1362A>G
n.1252A>G
c.3794A>G (p.Gln1265Arg)
c.*3306A>G (n.*3306A>G)
c.3830A>G (p.Gln1277Arg)
n.1897A>G
c.321A>G
n.1254A>G
c.4193A>G (p.Gln1398Arg)
c.4190A>G (p.Gln1397Arg)
c.4082A>G (p.Gln1361Arg)
c.4064A>G (p.Gln1355Arg)
c.4061A>G (p.Gln1354Arg)
c.3407A>G (p.Gln1136Arg)
c.4355A>G (p.Gln1452Arg)
c.4103A>G (p.Gln1368Arg)
c.2849A>G (p.Gln950Arg)
 ClinVar dbSNP
16g.2084361A>TCA394299626TSC2c.*2488A>T (n.*2488A>T)
c.3986A>T (p.Gln1329Leu)
c.4136A>T (p.Gln1379Leu)
c.*4519A>T (n.*4519A>T)
c.*6888A>T (n.*6888A>T)
c.4139A>T (p.Gln1380Leu)
c.4070A>T (p.Gln1357Leu)
c.3938A>T (p.Gln1313Leu)
c.3971A>T (p.Gln1324Leu)
c.375A>T
n.2021A>T
c.2793A>T
c.4010A>T (p.Gln1337Leu)
n.321A>T
c.3941A>T (p.Gln1314Leu)
c.4007A>T (p.Gln1336Leu)
n.153A>T
n.1787A>T
c.4060A>T
n.2223A>T
c.382A>T
n.2954A>T
n.1391A>T
n.1362A>T
n.1252A>T
c.3794A>T (p.Gln1265Leu)
c.*3306A>T (n.*3306A>T)
c.3830A>T (p.Gln1277Leu)
n.1897A>T
c.321A>T
n.1254A>T
c.4193A>T (p.Gln1398Leu)
c.4190A>T (p.Gln1397Leu)
c.4082A>T (p.Gln1361Leu)
c.4064A>T (p.Gln1355Leu)
c.4061A>T (p.Gln1354Leu)
c.3407A>T (p.Gln1136Leu)
c.4355A>T (p.Gln1452Leu)
c.4103A>T (p.Gln1368Leu)
c.2849A>T (p.Gln950Leu)
 dbSNP
16g.2084361_2084362insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATTCA3265648711TSC2c.*2488_*2489insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT (n.*2488_*2489insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT)
c.3986_3987insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT (p.Gln1329HisfsTer34)
c.4136_4137insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT (p.Gln1379HisfsTer34)
c.*4519_*4520insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT (n.*4519_*4520insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT)
c.*6888_*6889insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT (n.*6888_*6889insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT)
c.4139_4140insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT (p.Gln1380HisfsTer34)
c.4070_4071insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT (p.Gln1357HisfsTer34)
c.3938_3939insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT (p.Gln1313HisfsTer34)
c.3971_3972insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT (p.Gln1324HisfsTer34)
c.375_376insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT
n.2021_2022insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT
c.2793_2794insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT
c.4010_4011insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT (p.Gln1337HisfsTer34)
n.321_322insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT
c.3941_3942insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT (p.Gln1314HisfsTer34)
c.4007_4008insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT (p.Gln1336HisfsTer34)
n.153_154insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT
n.1787_1788insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT
c.4060_4061insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT
n.2223_2224insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT
c.382_383insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT
n.2954_2955insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT
n.1391_1392insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT
n.1362_1363insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT
n.1252_1253insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT
c.3794_3795insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT (p.Gln1265HisfsTer34)
c.*3306_*3307insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT (n.*3306_*3307insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT)
c.3830_3831insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT (p.Gln1277HisfsTer34)
n.1897_1898insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT
c.321_322insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT
n.1254_1255insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT
c.4193_4194insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT (p.Gln1398HisfsTer34)
c.4190_4191insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT (p.Gln1397HisfsTer34)
c.4082_4083insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT (p.Gln1361HisfsTer34)
c.4064_4065insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT (p.Gln1355HisfsTer34)
c.4061_4062insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT (p.Gln1354HisfsTer34)
c.3407_3408insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT (p.Gln1136HisfsTer34)
c.4355_4356insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT (p.Gln1452HisfsTer34)
c.4103_4104insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT (p.Gln1368HisfsTer34)
c.2849_2850insTGAAGTGGCATGTCTACACGGTCCCCGTGTGAGTGTGGGTGTGGGTGTGTGCCTATACTCCCAGATACTGAGAAGGCTGAGGCAGGAGAATT (p.Gln950HisfsTer34)
16g.2084362G>ACA493043082TSC2c.*2489G>A (n.*2489G>A)
c.3987G>A (p.Gln1329=)
c.4137G>A (p.Gln1379=)
c.*4520G>A (n.*4520G>A)
c.*6889G>A (n.*6889G>A)
c.4140G>A (p.Gln1380=)
c.4071G>A (p.Gln1357=)
c.3939G>A (p.Gln1313=)
c.3972G>A (p.Gln1324=)
c.376G>A
n.2022G>A
c.2794G>A
c.4011G>A (p.Gln1337=)
n.322G>A
c.3942G>A (p.Gln1314=)
c.4008G>A (p.Gln1336=)
n.154G>A
n.1788G>A
c.4061G>A
n.2224G>A
c.383G>A
n.2955G>A
n.1392G>A
n.1363G>A
n.1253G>A
c.3795G>A (p.Gln1265=)
c.*3307G>A (n.*3307G>A)
c.3831G>A (p.Gln1277=)
n.1898G>A
c.322G>A
n.1255G>A
c.4194G>A (p.Gln1398=)
c.4191G>A (p.Gln1397=)
c.4083G>A (p.Gln1361=)
c.4065G>A (p.Gln1355=)
c.4062G>A (p.Gln1354=)
c.3408G>A (p.Gln1136=)
c.4356G>A (p.Gln1452=)
c.4104G>A (p.Gln1368=)
c.2850G>A (p.Gln950=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
16g.2084362G>CCA394299633TSC2c.*2489G>C (n.*2489G>C)
c.3987G>C (p.Gln1329His)
c.4137G>C (p.Gln1379His)
c.*4520G>C (n.*4520G>C)
c.*6889G>C (n.*6889G>C)
c.4140G>C (p.Gln1380His)
c.4071G>C (p.Gln1357His)
c.3939G>C (p.Gln1313His)
c.3972G>C (p.Gln1324His)
c.376G>C
n.2022G>C
c.2794G>C
c.4011G>C (p.Gln1337His)
n.322G>C
c.3942G>C (p.Gln1314His)
c.4008G>C (p.Gln1336His)
n.154G>C
n.1788G>C
c.4061G>C
n.2224G>C
c.383G>C
n.2955G>C
n.1392G>C
n.1363G>C
n.1253G>C
c.3795G>C (p.Gln1265His)
c.*3307G>C (n.*3307G>C)
c.3831G>C (p.Gln1277His)
n.1898G>C
c.322G>C
n.1255G>C
c.4194G>C (p.Gln1398His)
c.4191G>C (p.Gln1397His)
c.4083G>C (p.Gln1361His)
c.4065G>C (p.Gln1355His)
c.4062G>C (p.Gln1354His)
c.3408G>C (p.Gln1136His)
c.4356G>C (p.Gln1452His)
c.4104G>C (p.Gln1368His)
c.2850G>C (p.Gln950His)
 dbSNP
16g.2084362G=CA2202044012TSC2c.*2489G= (n.*2489G=)
c.3987G= (p.Gln1329=)
c.4137G= (p.Gln1379=)
c.*4520G= (n.*4520G=)
c.*6889G= (n.*6889G=)
c.4140G= (p.Gln1380=)
c.4071G= (p.Gln1357=)
c.3939G= (p.Gln1313=)
c.3972G= (p.Gln1324=)
c.376G=
n.2022G=
c.2794G=
c.4011G= (p.Gln1337=)
n.322G=
c.3942G= (p.Gln1314=)
c.4008G= (p.Gln1336=)
n.154G=
n.1788G=
c.4061G=
n.2224G=
c.383G=
n.2955G=
n.1392G=
n.1363G=
n.1253G=
c.3795G= (p.Gln1265=)
c.*3307G= (n.*3307G=)
c.3831G= (p.Gln1277=)
n.1898G=
c.322G=
n.1255G=
c.4194G= (p.Gln1398=)
c.4191G= (p.Gln1397=)
c.4083G= (p.Gln1361=)
c.4065G= (p.Gln1355=)
c.4062G= (p.Gln1354=)
c.3408G= (p.Gln1136=)
c.4356G= (p.Gln1452=)
c.4104G= (p.Gln1368=)
c.2850G= (p.Gln950=)
 dbSNP

Number of alleles fetched