Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2083198_2087918del | CA16614787 | TSC2 | c.*2233-497_*3394del c.3731-497_4892del c.3881-497_5042del c.*4264-497_*5558del c.*6136_*7794del c.3884-497_5045del c.3815-497_4976del c.3683-497_4844del c.3716-497_4877del c.120-497_1268del n.1269_2927del c.2538-497_3699del c.3755-497_4916del c.3686-497_4847del c.3752-497_4913del c.3683-497_4838del n.1532-497_2693del c.3815-497_4970del c.3686-497_4841del c.3805-497_4966del n.1968-497_3129del c.3884-497_5039del n.2699-497_3860del n.1136-497_2297del n.1107-497_2268del n.997-497_2158del c.3539-497_4700del c.*3051-497_*4212del c.3575-497_4736del n.1642-497_2768del c.9_1227del n.502_2160del c.3938-497_5099del c.3935-497_5096del c.3827-497_4988del c.3809-497_4970del c.3806-497_4967del c.3152-497_4313del c.4100-497_5261del c.3848-497_5009del c.2594-497_3755del | ClinVar |
16 | g.2084996_2084997insGGGCGACGAG | CA2697549580 | TSC2 | c.*2888_*2889insGGGCGACGAG (n.*2888_*2889insGGGCGACGAG) c.4386_4387insGGGCGACGAG (p.Ser1463GlyfsTer13) c.4536_4537insGGGCGACGAG (p.Ser1513GlyfsTer13) c.*4919_*4920insGGGCGACGAG (n.*4919_*4920insGGGCGACGAG) c.*7288_*7289insGGGCGACGAG (n.*7288_*7289insGGGCGACGAG) c.4539_4540insGGGCGACGAG (p.Ser1514GlyfsTer13) c.4470_4471insGGGCGACGAG (p.Ser1491GlyfsTer13) c.4338_4339insGGGCGACGAG (p.Ser1447GlyfsTer13) c.4371_4372insGGGCGACGAG (p.Ser1458GlyfsTer13) c.762_763insGGGCGACGAG n.2421_2422insGGGCGACGAG c.3193_3194insGGGCGACGAG c.4410_4411insGGGCGACGAG (p.Ser1471GlyfsTer13) n.721_722insGGGCGACGAG c.4341_4342insGGGCGACGAG (p.Ser1448GlyfsTer13) c.4407_4408insGGGCGACGAG (p.Ser1470GlyfsTer13) n.553_554insGGGCGACGAG n.2187_2188insGGGCGACGAG c.4460_4461insGGGCGACGAG n.2623_2624insGGGCGACGAG n.3354_3355insGGGCGACGAG n.1791_1792insGGGCGACGAG n.1762_1763insGGGCGACGAG n.1652_1653insGGGCGACGAG c.4194_4195insGGGCGACGAG (p.Ser1399GlyfsTer13) c.*3706_*3707insGGGCGACGAG (n.*3706_*3707insGGGCGACGAG) c.4230_4231insGGGCGACGAG (p.Ser1411GlyfsTer13) n.2297_2298insGGGCGACGAG c.721_722insGGGCGACGAG n.1654_1655insGGGCGACGAG c.4593_4594insGGGCGACGAG (p.Ser1532GlyfsTer13) c.4590_4591insGGGCGACGAG (p.Ser1531GlyfsTer13) c.4482_4483insGGGCGACGAG (p.Ser1495GlyfsTer13) c.4464_4465insGGGCGACGAG (p.Ser1489GlyfsTer13) c.4461_4462insGGGCGACGAG (p.Ser1488GlyfsTer13) c.3807_3808insGGGCGACGAG (p.Ser1270GlyfsTer13) c.4755_4756insGGGCGACGAG (p.Ser1586GlyfsTer13) c.4503_4504insGGGCGACGAG (p.Ser1502GlyfsTer13) c.3249_3250insGGGCGACGAG (p.Ser1084GlyfsTer13) | |
16 | g.2084993_2084995del | CA2631120446 | TSC2 | c.*2885_*2887del (n.*2885_*2887del) c.4383_4385del (p.Asp1461del) c.4533_4535del (p.Asp1511del) c.*4916_*4918del (n.*4916_*4918del) c.*7285_*7287del (n.*7285_*7287del) c.4536_4538del (p.Asp1512del) c.4467_4469del (p.Asp1489del) c.4335_4337del (p.Asp1445del) c.4368_4370del (p.Asp1456del) c.759_761del n.2418_2420del c.3190_3192del c.4407_4409del (p.Asp1469del) n.718_720del c.4338_4340del (p.Asp1446del) c.4404_4406del (p.Asp1468del) n.550_552del n.2184_2186del c.4457_4459del n.2620_2622del n.3351_3353del n.1788_1790del n.1759_1761del n.1649_1651del c.4191_4193del (p.Asp1397del) c.*3703_*3705del (n.*3703_*3705del) c.4227_4229del (p.Asp1409del) n.2294_2296del c.718_720del n.1651_1653del c.4590_4592del (p.Asp1530del) c.4587_4589del (p.Asp1529del) c.4479_4481del (p.Asp1493del) c.4461_4463del (p.Asp1487del) c.4458_4460del (p.Asp1486del) c.3804_3806del (p.Asp1268del) c.4752_4754del (p.Asp1584del) c.4500_4502del (p.Asp1500del) c.3246_3248del (p.Asp1082del) | gnomAD v4 |
16 | g.2084992_2084996del | CA2695221405 | TSC2 | c.*2884_*2888del (n.*2884_*2888del) c.4382_4386del (p.Asp1461ValfsTer10) c.4532_4536del (p.Asp1511ValfsTer10) c.*4915_*4919del (n.*4915_*4919del) c.*7284_*7288del (n.*7284_*7288del) c.4535_4539del (p.Asp1512ValfsTer10) c.4466_4470del (p.Asp1489ValfsTer10) c.4334_4338del (p.Asp1445ValfsTer10) c.4367_4371del (p.Asp1456ValfsTer10) c.758_762del n.2417_2421del c.3189_3193del c.4406_4410del (p.Asp1469ValfsTer10) n.717_721del c.4337_4341del (p.Asp1446ValfsTer10) c.4403_4407del (p.Asp1468ValfsTer10) n.549_553del n.2183_2187del c.4456_4460del n.2619_2623del n.3350_3354del n.1787_1791del n.1758_1762del n.1648_1652del c.4190_4194del (p.Asp1397ValfsTer10) c.*3702_*3706del (n.*3702_*3706del) c.4226_4230del (p.Asp1409ValfsTer10) n.2293_2297del c.717_721del n.1650_1654del c.4589_4593del (p.Asp1530ValfsTer10) c.4586_4590del (p.Asp1529ValfsTer10) c.4478_4482del (p.Asp1493ValfsTer10) c.4460_4464del (p.Asp1487ValfsTer10) c.4457_4461del (p.Asp1486ValfsTer10) c.3803_3807del (p.Asp1268ValfsTer10) c.4751_4755del (p.Asp1584ValfsTer10) c.4499_4503del (p.Asp1500ValfsTer10) c.3245_3249del (p.Asp1082ValfsTer10) | |
16 | g.2084993_2085000del | CA2580617464 | TSC2 | c.*2885_*2892del (n.*2885_*2892del) c.4383_4390del (p.Asp1461GlufsTer9) c.4533_4540del (p.Asp1511GlufsTer9) c.*4916_*4923del (n.*4916_*4923del) c.*7285_*7292del (n.*7285_*7292del) c.4536_4543del (p.Asp1512GlufsTer9) c.4467_4474del (p.Asp1489GlufsTer9) c.4335_4342del (p.Asp1445GlufsTer9) c.4368_4375del (p.Asp1456GlufsTer9) c.759_766del n.2418_2425del c.3190_3197del c.4407_4414del (p.Asp1469GlufsTer9) n.718_725del c.4338_4345del (p.Asp1446GlufsTer9) c.4404_4411del (p.Asp1468GlufsTer9) n.550_557del n.2184_2191del c.4457_4464del n.2620_2627del n.3351_3358del n.1788_1795del n.1759_1766del n.1649_1656del c.4191_4198del (p.Asp1397GlufsTer9) c.*3703_*3710del (n.*3703_*3710del) c.4227_4234del (p.Asp1409GlufsTer9) n.2294_2301del c.718_725del n.1651_1658del c.4590_4597del (p.Asp1530GlufsTer9) c.4587_4594del (p.Asp1529GlufsTer9) c.4479_4486del (p.Asp1493GlufsTer9) c.4461_4468del (p.Asp1487GlufsTer9) c.4458_4465del (p.Asp1486GlufsTer9) c.3804_3811del (p.Asp1268GlufsTer9) c.4752_4759del (p.Asp1584GlufsTer9) c.4500_4507del (p.Asp1500GlufsTer9) c.3246_3253del (p.Asp1082GlufsTer9) | gnomAD v4 |
16 | g.2084993_2084994delinsCG | CA2202018187 | TSC2 | c.*2885_*2886delinsCG (n.*2885_*2886delinsCG) c.4383_4384delinsCG (p.Asp1461=) c.4533_4534delinsCG (p.Asp1511=) c.*4916_*4917delinsCG (n.*4916_*4917delinsCG) c.*7285_*7286delinsCG (n.*7285_*7286delinsCG) c.4536_4537delinsCG (p.Asp1512=) c.4467_4468delinsCG (p.Asp1489=) c.4335_4336delinsCG (p.Asp1445=) c.4368_4369delinsCG (p.Asp1456=) c.759_760delinsCG n.2418_2419delinsCG c.3190_3191delinsCG c.4407_4408delinsCG (p.Asp1469=) n.718_719delinsCG c.4338_4339delinsCG (p.Asp1446=) c.4404_4405delinsCG (p.Asp1468=) n.550_551delinsCG n.2184_2185delinsCG c.4457_4458delinsCG n.2620_2621delinsCG n.3351_3352delinsCG n.1788_1789delinsCG n.1759_1760delinsCG n.1649_1650delinsCG c.4191_4192delinsCG (p.Asp1397=) c.*3703_*3704delinsCG (n.*3703_*3704delinsCG) c.4227_4228delinsCG (p.Asp1409=) n.2294_2295delinsCG c.718_719delinsCG n.1651_1652delinsCG c.4590_4591delinsCG (p.Asp1530=) c.4587_4588delinsCG (p.Asp1529=) c.4479_4480delinsCG (p.Asp1493=) c.4461_4462delinsCG (p.Asp1487=) c.4458_4459delinsCG (p.Asp1486=) c.3804_3805delinsCG (p.Asp1268=) c.4752_4753delinsCG (p.Asp1584=) c.4500_4501delinsCG (p.Asp1500=) c.3246_3247delinsCG (p.Asp1082=) | |
16 | g.2084994del | CA020622 | TSC2 | c.*2886del (n.*2886del) c.4384del (p.Glu1462SerfsTer?) c.4534del (p.Glu1512SerfsTer?) c.*4917del (n.*4917del) c.*7286del (n.*7286del) c.4537del (p.Glu1513SerfsTer?) c.4468del (p.Glu1490SerfsTer?) c.4336del (p.Glu1446SerfsTer?) c.4369del (p.Glu1457SerfsTer?) c.760del n.2419del c.3191del c.4408del (p.Glu1470SerfsTer?) n.719del c.4339del (p.Glu1447SerfsTer?) c.4405del (p.Glu1469SerfsTer?) n.551del n.2185del c.4458del n.2621del n.3352del n.1789del n.1760del n.1650del c.4192del (p.Glu1398SerfsTer?) c.*3704del (n.*3704del) c.4228del (p.Glu1410SerfsTer?) n.2295del c.719del n.1652del c.4591del (p.Glu1531SerfsTer?) c.4588del (p.Glu1530SerfsTer?) c.4480del (p.Glu1494SerfsTer?) c.4462del (p.Glu1488SerfsTer?) c.4459del (p.Glu1487SerfsTer?) c.3805del (p.Glu1269SerfsTer?) c.4753del (p.Glu1585SerfsTer?) c.4501del (p.Glu1501SerfsTer?) c.3247del (p.Glu1083SerfsTer?) | ClinVar dbSNP |
16 | g.2084994G>A | CA051548 | TSC2 | c.*2886G>A (n.*2886G>A) c.4384G>A (p.Glu1462Lys) c.4534G>A (p.Glu1512Lys) c.*4917G>A (n.*4917G>A) c.*7286G>A (n.*7286G>A) c.4537G>A (p.Glu1513Lys) c.4468G>A (p.Glu1490Lys) c.4336G>A (p.Glu1446Lys) c.4369G>A (p.Glu1457Lys) c.760G>A n.2419G>A c.3191G>A c.4408G>A (p.Glu1470Lys) n.719G>A c.4339G>A (p.Glu1447Lys) c.4405G>A (p.Glu1469Lys) n.551G>A n.2185G>A c.4458G>A n.2621G>A n.3352G>A n.1789G>A n.1760G>A n.1650G>A c.4192G>A (p.Glu1398Lys) c.*3704G>A (n.*3704G>A) c.4228G>A (p.Glu1410Lys) n.2295G>A c.719G>A n.1652G>A c.4591G>A (p.Glu1531Lys) c.4588G>A (p.Glu1530Lys) c.4480G>A (p.Glu1494Lys) c.4462G>A (p.Glu1488Lys) c.4459G>A (p.Glu1487Lys) c.3805G>A (p.Glu1269Lys) c.4753G>A (p.Glu1585Lys) c.4501G>A (p.Glu1501Lys) c.3247G>A (p.Glu1083Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2084994G>C | CA394302908 | TSC2 | c.*2886G>C (n.*2886G>C) c.4384G>C (p.Glu1462Gln) c.4534G>C (p.Glu1512Gln) c.*4917G>C (n.*4917G>C) c.*7286G>C (n.*7286G>C) c.4537G>C (p.Glu1513Gln) c.4468G>C (p.Glu1490Gln) c.4336G>C (p.Glu1446Gln) c.4369G>C (p.Glu1457Gln) c.760G>C n.2419G>C c.3191G>C c.4408G>C (p.Glu1470Gln) n.719G>C c.4339G>C (p.Glu1447Gln) c.4405G>C (p.Glu1469Gln) n.551G>C n.2185G>C c.4458G>C n.2621G>C n.3352G>C n.1789G>C n.1760G>C n.1650G>C c.4192G>C (p.Glu1398Gln) c.*3704G>C (n.*3704G>C) c.4228G>C (p.Glu1410Gln) n.2295G>C c.719G>C n.1652G>C c.4591G>C (p.Glu1531Gln) c.4588G>C (p.Glu1530Gln) c.4480G>C (p.Glu1494Gln) c.4462G>C (p.Glu1488Gln) c.4459G>C (p.Glu1487Gln) c.3805G>C (p.Glu1269Gln) c.4753G>C (p.Glu1585Gln) c.4501G>C (p.Glu1501Gln) c.3247G>C (p.Glu1083Gln) | gnomAD v4 |
16 | g.2084994G= | CA2202018196 | TSC2 | c.*2886G= (n.*2886G=) c.4384G= (p.Glu1462=) c.4534G= (p.Glu1512=) c.*4917G= (n.*4917G=) c.*7286G= (n.*7286G=) c.4537G= (p.Glu1513=) c.4468G= (p.Glu1490=) c.4336G= (p.Glu1446=) c.4369G= (p.Glu1457=) c.760G= n.2419G= c.3191G= c.4408G= (p.Glu1470=) n.719G= c.4339G= (p.Glu1447=) c.4405G= (p.Glu1469=) n.551G= n.2185G= c.4458G= n.2621G= n.3352G= n.1789G= n.1760G= n.1650G= c.4192G= (p.Glu1398=) c.*3704G= (n.*3704G=) c.4228G= (p.Glu1410=) n.2295G= c.719G= n.1652G= c.4591G= (p.Glu1531=) c.4588G= (p.Glu1530=) c.4480G= (p.Glu1494=) c.4462G= (p.Glu1488=) c.4459G= (p.Glu1487=) c.3805G= (p.Glu1269=) c.4753G= (p.Glu1585=) c.4501G= (p.Glu1501=) c.3247G= (p.Glu1083=) | |
16 | g.2084994G>T | CA394302913 | TSC2 | c.*2886G>T (n.*2886G>T) c.4384G>T (p.Glu1462Ter) c.4534G>T (p.Glu1512Ter) c.*4917G>T (n.*4917G>T) c.*7286G>T (n.*7286G>T) c.4537G>T (p.Glu1513Ter) c.4468G>T (p.Glu1490Ter) c.4336G>T (p.Glu1446Ter) c.4369G>T (p.Glu1457Ter) c.760G>T n.2419G>T c.3191G>T c.4408G>T (p.Glu1470Ter) n.719G>T c.4339G>T (p.Glu1447Ter) c.4405G>T (p.Glu1469Ter) n.551G>T n.2185G>T c.4458G>T n.2621G>T n.3352G>T n.1789G>T n.1760G>T n.1650G>T c.4192G>T (p.Glu1398Ter) c.*3704G>T (n.*3704G>T) c.4228G>T (p.Glu1410Ter) n.2295G>T c.719G>T n.1652G>T c.4591G>T (p.Glu1531Ter) c.4588G>T (p.Glu1530Ter) c.4480G>T (p.Glu1494Ter) c.4462G>T (p.Glu1488Ter) c.4459G>T (p.Glu1487Ter) c.3805G>T (p.Glu1269Ter) c.4753G>T (p.Glu1585Ter) c.4501G>T (p.Glu1501Ter) c.3247G>T (p.Glu1083Ter) | ClinVar |
16 | g.2084995A= | CA2202018201 | TSC2 | c.*2887A= (n.*2887A=) c.4385A= (p.Glu1462=) c.4535A= (p.Glu1512=) c.*4918A= (n.*4918A=) c.*7287A= (n.*7287A=) c.4538A= (p.Glu1513=) c.4469A= (p.Glu1490=) c.4337A= (p.Glu1446=) c.4370A= (p.Glu1457=) c.761A= n.2420A= c.3192A= c.4409A= (p.Glu1470=) n.720A= c.4340A= (p.Glu1447=) c.4406A= (p.Glu1469=) n.552A= n.2186A= c.4459A= n.2622A= n.3353A= n.1790A= n.1761A= n.1651A= c.4193A= (p.Glu1398=) c.*3705A= (n.*3705A=) c.4229A= (p.Glu1410=) n.2296A= c.720A= n.1653A= c.4592A= (p.Glu1531=) c.4589A= (p.Glu1530=) c.4481A= (p.Glu1494=) c.4463A= (p.Glu1488=) c.4460A= (p.Glu1487=) c.3806A= (p.Glu1269=) c.4754A= (p.Glu1585=) c.4502A= (p.Glu1501=) c.3248A= (p.Glu1083=) | |
16 | g.2084995A>C | CA394302917 | TSC2 | c.*2887A>C (n.*2887A>C) c.4385A>C (p.Glu1462Ala) c.4535A>C (p.Glu1512Ala) c.*4918A>C (n.*4918A>C) c.*7287A>C (n.*7287A>C) c.4538A>C (p.Glu1513Ala) c.4469A>C (p.Glu1490Ala) c.4337A>C (p.Glu1446Ala) c.4370A>C (p.Glu1457Ala) c.761A>C n.2420A>C c.3192A>C c.4409A>C (p.Glu1470Ala) n.720A>C c.4340A>C (p.Glu1447Ala) c.4406A>C (p.Glu1469Ala) n.552A>C n.2186A>C c.4459A>C n.2622A>C n.3353A>C n.1790A>C n.1761A>C n.1651A>C c.4193A>C (p.Glu1398Ala) c.*3705A>C (n.*3705A>C) c.4229A>C (p.Glu1410Ala) n.2296A>C c.720A>C n.1653A>C c.4592A>C (p.Glu1531Ala) c.4589A>C (p.Glu1530Ala) c.4481A>C (p.Glu1494Ala) c.4463A>C (p.Glu1488Ala) c.4460A>C (p.Glu1487Ala) c.3806A>C (p.Glu1269Ala) c.4754A>C (p.Glu1585Ala) c.4502A>C (p.Glu1501Ala) c.3248A>C (p.Glu1083Ala) | |
16 | g.2084995A>G | CA394302919 | TSC2 | c.*2887A>G (n.*2887A>G) c.4385A>G (p.Glu1462Gly) c.4535A>G (p.Glu1512Gly) c.*4918A>G (n.*4918A>G) c.*7287A>G (n.*7287A>G) c.4538A>G (p.Glu1513Gly) c.4469A>G (p.Glu1490Gly) c.4337A>G (p.Glu1446Gly) c.4370A>G (p.Glu1457Gly) c.761A>G n.2420A>G c.3192A>G c.4409A>G (p.Glu1470Gly) n.720A>G c.4340A>G (p.Glu1447Gly) c.4406A>G (p.Glu1469Gly) n.552A>G n.2186A>G c.4459A>G n.2622A>G n.3353A>G n.1790A>G n.1761A>G n.1651A>G c.4193A>G (p.Glu1398Gly) c.*3705A>G (n.*3705A>G) c.4229A>G (p.Glu1410Gly) n.2296A>G c.720A>G n.1653A>G c.4592A>G (p.Glu1531Gly) c.4589A>G (p.Glu1530Gly) c.4481A>G (p.Glu1494Gly) c.4463A>G (p.Glu1488Gly) c.4460A>G (p.Glu1487Gly) c.3806A>G (p.Glu1269Gly) c.4754A>G (p.Glu1585Gly) c.4502A>G (p.Glu1501Gly) c.3248A>G (p.Glu1083Gly) | ClinVar dbSNP gnomAD v4 |
16 | g.2084995A>T | CA394302921 | TSC2 | c.*2887A>T (n.*2887A>T) c.4385A>T (p.Glu1462Val) c.4535A>T (p.Glu1512Val) c.*4918A>T (n.*4918A>T) c.*7287A>T (n.*7287A>T) c.4538A>T (p.Glu1513Val) c.4469A>T (p.Glu1490Val) c.4337A>T (p.Glu1446Val) c.4370A>T (p.Glu1457Val) c.761A>T n.2420A>T c.3192A>T c.4409A>T (p.Glu1470Val) n.720A>T c.4340A>T (p.Glu1447Val) c.4406A>T (p.Glu1469Val) n.552A>T n.2186A>T c.4459A>T n.2622A>T n.3353A>T n.1790A>T n.1761A>T n.1651A>T c.4193A>T (p.Glu1398Val) c.*3705A>T (n.*3705A>T) c.4229A>T (p.Glu1410Val) n.2296A>T c.720A>T n.1653A>T c.4592A>T (p.Glu1531Val) c.4589A>T (p.Glu1530Val) c.4481A>T (p.Glu1494Val) c.4463A>T (p.Glu1488Val) c.4460A>T (p.Glu1487Val) c.3806A>T (p.Glu1269Val) c.4754A>T (p.Glu1585Val) c.4502A>T (p.Glu1501Val) c.3248A>T (p.Glu1083Val) | |
16 | g.2084996G>A | CA493043423 | TSC2 | c.*2888G>A (n.*2888G>A) c.4386G>A (p.Glu1462=) c.4536G>A (p.Glu1512=) c.*4919G>A (n.*4919G>A) c.*7288G>A (n.*7288G>A) c.4539G>A (p.Glu1513=) c.4470G>A (p.Glu1490=) c.4338G>A (p.Glu1446=) c.4371G>A (p.Glu1457=) c.762G>A n.2421G>A c.3193G>A c.4410G>A (p.Glu1470=) n.721G>A c.4341G>A (p.Glu1447=) c.4407G>A (p.Glu1469=) n.553G>A n.2187G>A c.4460G>A n.2623G>A n.3354G>A n.1791G>A n.1762G>A n.1652G>A c.4194G>A (p.Glu1398=) c.*3706G>A (n.*3706G>A) c.4230G>A (p.Glu1410=) n.2297G>A c.721G>A n.1654G>A c.4593G>A (p.Glu1531=) c.4590G>A (p.Glu1530=) c.4482G>A (p.Glu1494=) c.4464G>A (p.Glu1488=) c.4461G>A (p.Glu1487=) c.3807G>A (p.Glu1269=) c.4755G>A (p.Glu1585=) c.4503G>A (p.Glu1501=) c.3249G>A (p.Glu1083=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2084996G>C | CA394302924 | TSC2 | c.*2888G>C (n.*2888G>C) c.4386G>C (p.Glu1462Asp) c.4536G>C (p.Glu1512Asp) c.*4919G>C (n.*4919G>C) c.*7288G>C (n.*7288G>C) c.4539G>C (p.Glu1513Asp) c.4470G>C (p.Glu1490Asp) c.4338G>C (p.Glu1446Asp) c.4371G>C (p.Glu1457Asp) c.762G>C n.2421G>C c.3193G>C c.4410G>C (p.Glu1470Asp) n.721G>C c.4341G>C (p.Glu1447Asp) c.4407G>C (p.Glu1469Asp) n.553G>C n.2187G>C c.4460G>C n.2623G>C n.3354G>C n.1791G>C n.1762G>C n.1652G>C c.4194G>C (p.Glu1398Asp) c.*3706G>C (n.*3706G>C) c.4230G>C (p.Glu1410Asp) n.2297G>C c.721G>C n.1654G>C c.4593G>C (p.Glu1531Asp) c.4590G>C (p.Glu1530Asp) c.4482G>C (p.Glu1494Asp) c.4464G>C (p.Glu1488Asp) c.4461G>C (p.Glu1487Asp) c.3807G>C (p.Glu1269Asp) c.4755G>C (p.Glu1585Asp) c.4503G>C (p.Glu1501Asp) c.3249G>C (p.Glu1083Asp) | |
16 | g.2084996G= | CA2202018205 | TSC2 | c.*2888G= (n.*2888G=) c.4386G= (p.Glu1462=) c.4536G= (p.Glu1512=) c.*4919G= (n.*4919G=) c.*7288G= (n.*7288G=) c.4539G= (p.Glu1513=) c.4470G= (p.Glu1490=) c.4338G= (p.Glu1446=) c.4371G= (p.Glu1457=) c.762G= n.2421G= c.3193G= c.4410G= (p.Glu1470=) n.721G= c.4341G= (p.Glu1447=) c.4407G= (p.Glu1469=) n.553G= n.2187G= c.4460G= n.2623G= n.3354G= n.1791G= n.1762G= n.1652G= c.4194G= (p.Glu1398=) c.*3706G= (n.*3706G=) c.4230G= (p.Glu1410=) n.2297G= c.721G= n.1654G= c.4593G= (p.Glu1531=) c.4590G= (p.Glu1530=) c.4482G= (p.Glu1494=) c.4464G= (p.Glu1488=) c.4461G= (p.Glu1487=) c.3807G= (p.Glu1269=) c.4755G= (p.Glu1585=) c.4503G= (p.Glu1501=) c.3249G= (p.Glu1083=) | |
16 | g.2084996G>T | CA394302926 | TSC2 | c.*2888G>T (n.*2888G>T) c.4386G>T (p.Glu1462Asp) c.4536G>T (p.Glu1512Asp) c.*4919G>T (n.*4919G>T) c.*7288G>T (n.*7288G>T) c.4539G>T (p.Glu1513Asp) c.4470G>T (p.Glu1490Asp) c.4338G>T (p.Glu1446Asp) c.4371G>T (p.Glu1457Asp) c.762G>T n.2421G>T c.3193G>T c.4410G>T (p.Glu1470Asp) n.721G>T c.4341G>T (p.Glu1447Asp) c.4407G>T (p.Glu1469Asp) n.553G>T n.2187G>T c.4460G>T n.2623G>T n.3354G>T n.1791G>T n.1762G>T n.1652G>T c.4194G>T (p.Glu1398Asp) c.*3706G>T (n.*3706G>T) c.4230G>T (p.Glu1410Asp) n.2297G>T c.721G>T n.1654G>T c.4593G>T (p.Glu1531Asp) c.4590G>T (p.Glu1530Asp) c.4482G>T (p.Glu1494Asp) c.4464G>T (p.Glu1488Asp) c.4461G>T (p.Glu1487Asp) c.3807G>T (p.Glu1269Asp) c.4755G>T (p.Glu1585Asp) c.4503G>T (p.Glu1501Asp) c.3249G>T (p.Glu1083Asp) | |
16 | g.2084997T>A | CA051552 | TSC2 | c.*2889T>A (n.*2889T>A) c.4387T>A (p.Ser1463Thr) c.4537T>A (p.Ser1513Thr) c.*4920T>A (n.*4920T>A) c.*7289T>A (n.*7289T>A) c.4540T>A (p.Ser1514Thr) c.4471T>A (p.Ser1491Thr) c.4339T>A (p.Ser1447Thr) c.4372T>A (p.Ser1458Thr) c.763T>A n.2422T>A c.3194T>A c.4411T>A (p.Ser1471Thr) n.722T>A c.4342T>A (p.Ser1448Thr) c.4408T>A (p.Ser1470Thr) n.554T>A n.2188T>A c.4461T>A n.2624T>A n.3355T>A n.1792T>A n.1763T>A n.1653T>A c.4195T>A (p.Ser1399Thr) c.*3707T>A (n.*3707T>A) c.4231T>A (p.Ser1411Thr) n.2298T>A c.722T>A n.1655T>A c.4594T>A (p.Ser1532Thr) c.4591T>A (p.Ser1531Thr) c.4483T>A (p.Ser1495Thr) c.4465T>A (p.Ser1489Thr) c.4462T>A (p.Ser1488Thr) c.3808T>A (p.Ser1270Thr) c.4756T>A (p.Ser1586Thr) c.4504T>A (p.Ser1502Thr) c.3250T>A (p.Ser1084Thr) | dbSNP ExAC |
16 | g.2084997T>C | CA394302932 | TSC2 | c.*2889T>C (n.*2889T>C) c.4387T>C (p.Ser1463Pro) c.4537T>C (p.Ser1513Pro) c.*4920T>C (n.*4920T>C) c.*7289T>C (n.*7289T>C) c.4540T>C (p.Ser1514Pro) c.4471T>C (p.Ser1491Pro) c.4339T>C (p.Ser1447Pro) c.4372T>C (p.Ser1458Pro) c.763T>C n.2422T>C c.3194T>C c.4411T>C (p.Ser1471Pro) n.722T>C c.4342T>C (p.Ser1448Pro) c.4408T>C (p.Ser1470Pro) n.554T>C n.2188T>C c.4461T>C n.2624T>C n.3355T>C n.1792T>C n.1763T>C n.1653T>C c.4195T>C (p.Ser1399Pro) c.*3707T>C (n.*3707T>C) c.4231T>C (p.Ser1411Pro) n.2298T>C c.722T>C n.1655T>C c.4594T>C (p.Ser1532Pro) c.4591T>C (p.Ser1531Pro) c.4483T>C (p.Ser1495Pro) c.4465T>C (p.Ser1489Pro) c.4462T>C (p.Ser1488Pro) c.3808T>C (p.Ser1270Pro) c.4756T>C (p.Ser1586Pro) c.4504T>C (p.Ser1502Pro) c.3250T>C (p.Ser1084Pro) | gnomAD v4 |
16 | g.2084997T>G | CA394302934 | TSC2 | c.*2889T>G (n.*2889T>G) c.4387T>G (p.Ser1463Ala) c.4537T>G (p.Ser1513Ala) c.*4920T>G (n.*4920T>G) c.*7289T>G (n.*7289T>G) c.4540T>G (p.Ser1514Ala) c.4471T>G (p.Ser1491Ala) c.4339T>G (p.Ser1447Ala) c.4372T>G (p.Ser1458Ala) c.763T>G n.2422T>G c.3194T>G c.4411T>G (p.Ser1471Ala) n.722T>G c.4342T>G (p.Ser1448Ala) c.4408T>G (p.Ser1470Ala) n.554T>G n.2188T>G c.4461T>G n.2624T>G n.3355T>G n.1792T>G n.1763T>G n.1653T>G c.4195T>G (p.Ser1399Ala) c.*3707T>G (n.*3707T>G) c.4231T>G (p.Ser1411Ala) n.2298T>G c.722T>G n.1655T>G c.4594T>G (p.Ser1532Ala) c.4591T>G (p.Ser1531Ala) c.4483T>G (p.Ser1495Ala) c.4465T>G (p.Ser1489Ala) c.4462T>G (p.Ser1488Ala) c.3808T>G (p.Ser1270Ala) c.4756T>G (p.Ser1586Ala) c.4504T>G (p.Ser1502Ala) c.3250T>G (p.Ser1084Ala) | |
16 | g.2084997T= | CA2202018216 | TSC2 | c.*2889T= (n.*2889T=) c.4387T= (p.Ser1463=) c.4537T= (p.Ser1513=) c.*4920T= (n.*4920T=) c.*7289T= (n.*7289T=) c.4540T= (p.Ser1514=) c.4471T= (p.Ser1491=) c.4339T= (p.Ser1447=) c.4372T= (p.Ser1458=) c.763T= n.2422T= c.3194T= c.4411T= (p.Ser1471=) n.722T= c.4342T= (p.Ser1448=) c.4408T= (p.Ser1470=) n.554T= n.2188T= c.4461T= n.2624T= n.3355T= n.1792T= n.1763T= n.1653T= c.4195T= (p.Ser1399=) c.*3707T= (n.*3707T=) c.4231T= (p.Ser1411=) n.2298T= c.722T= n.1655T= c.4594T= (p.Ser1532=) c.4591T= (p.Ser1531=) c.4483T= (p.Ser1495=) c.4465T= (p.Ser1489=) c.4462T= (p.Ser1488=) c.3808T= (p.Ser1270=) c.4756T= (p.Ser1586=) c.4504T= (p.Ser1502=) c.3250T= (p.Ser1084=) | |
16 | g.2084997_2085001delinsTCAAA | CA2202018211 | TSC2 | c.*2889_*2893delinsTCAAA (n.*2889_*2893delinsTCAAA) c.4387_4391delinsTCAAA (p.Ser1463=) c.4537_4541delinsTCAAA (p.Ser1513=) c.*4920_*4924delinsTCAAA (n.*4920_*4924delinsTCAAA) c.*7289_*7293delinsTCAAA (n.*7289_*7293delinsTCAAA) c.4540_4544delinsTCAAA (p.Ser1514=) c.4471_4475delinsTCAAA (p.Ser1491=) c.4339_4343delinsTCAAA (p.Ser1447=) c.4372_4376delinsTCAAA (p.Ser1458=) c.763_767delinsTCAAA n.2422_2426delinsTCAAA c.3194_3198delinsTCAAA c.4411_4415delinsTCAAA (p.Ser1471=) n.722_726delinsTCAAA c.4342_4346delinsTCAAA (p.Ser1448=) c.4408_4412delinsTCAAA (p.Ser1470=) n.554_558delinsTCAAA n.2188_2192delinsTCAAA c.4461_4465delinsTCAAA n.2624_2628delinsTCAAA n.3355_3359delinsTCAAA n.1792_1796delinsTCAAA n.1763_1767delinsTCAAA n.1653_1657delinsTCAAA c.4195_4199delinsTCAAA (p.Ser1399=) c.*3707_*3711delinsTCAAA (n.*3707_*3711delinsTCAAA) c.4231_4235delinsTCAAA (p.Ser1411=) n.2298_2302delinsTCAAA c.722_726delinsTCAAA n.1655_1659delinsTCAAA c.4594_4598delinsTCAAA (p.Ser1532=) c.4591_4595delinsTCAAA (p.Ser1531=) c.4483_4487delinsTCAAA (p.Ser1495=) c.4465_4469delinsTCAAA (p.Ser1489=) c.4462_4466delinsTCAAA (p.Ser1488=) c.3808_3812delinsTCAAA (p.Ser1270=) c.4756_4760delinsTCAAA (p.Ser1586=) c.4504_4508delinsTCAAA (p.Ser1502=) c.3250_3254delinsTCAAA (p.Ser1084=) | |
16 | g.2084998C>A | CA051555 | TSC2 | c.*2890C>A (n.*2890C>A) c.4388C>A (p.Ser1463Ter) c.4538C>A (p.Ser1513Ter) c.*4921C>A (n.*4921C>A) c.*7290C>A (n.*7290C>A) c.4541C>A (p.Ser1514Ter) c.4472C>A (p.Ser1491Ter) c.4340C>A (p.Ser1447Ter) c.4373C>A (p.Ser1458Ter) c.764C>A n.2423C>A c.3195C>A c.4412C>A (p.Ser1471Ter) n.723C>A c.4343C>A (p.Ser1448Ter) c.4409C>A (p.Ser1470Ter) n.555C>A n.2189C>A c.4462C>A n.2625C>A n.3356C>A n.1793C>A n.1764C>A n.1654C>A c.4196C>A (p.Ser1399Ter) c.*3708C>A (n.*3708C>A) c.4232C>A (p.Ser1411Ter) n.2299C>A c.723C>A n.1656C>A c.4595C>A (p.Ser1532Ter) c.4592C>A (p.Ser1531Ter) c.4484C>A (p.Ser1495Ter) c.4466C>A (p.Ser1489Ter) c.4463C>A (p.Ser1488Ter) c.3809C>A (p.Ser1270Ter) c.4757C>A (p.Ser1586Ter) c.4505C>A (p.Ser1502Ter) c.3251C>A (p.Ser1084Ter) | dbSNP ExAC gnomAD v4 |
16 | g.2084998C= | CA2202018225 | TSC2 | c.*2890C= (n.*2890C=) c.4388C= (p.Ser1463=) c.4538C= (p.Ser1513=) c.*4921C= (n.*4921C=) c.*7290C= (n.*7290C=) c.4541C= (p.Ser1514=) c.4472C= (p.Ser1491=) c.4340C= (p.Ser1447=) c.4373C= (p.Ser1458=) c.764C= n.2423C= c.3195C= c.4412C= (p.Ser1471=) n.723C= c.4343C= (p.Ser1448=) c.4409C= (p.Ser1470=) n.555C= n.2189C= c.4462C= n.2625C= n.3356C= n.1793C= n.1764C= n.1654C= c.4196C= (p.Ser1399=) c.*3708C= (n.*3708C=) c.4232C= (p.Ser1411=) n.2299C= c.723C= n.1656C= c.4595C= (p.Ser1532=) c.4592C= (p.Ser1531=) c.4484C= (p.Ser1495=) c.4466C= (p.Ser1489=) c.4463C= (p.Ser1488=) c.3809C= (p.Ser1270=) c.4757C= (p.Ser1586=) c.4505C= (p.Ser1502=) c.3251C= (p.Ser1084=) | |
16 | g.2084998C>G | CA394302943 | TSC2 | c.*2890C>G (n.*2890C>G) c.4388C>G (p.Ser1463Ter) c.4538C>G (p.Ser1513Ter) c.*4921C>G (n.*4921C>G) c.*7290C>G (n.*7290C>G) c.4541C>G (p.Ser1514Ter) c.4472C>G (p.Ser1491Ter) c.4340C>G (p.Ser1447Ter) c.4373C>G (p.Ser1458Ter) c.764C>G n.2423C>G c.3195C>G c.4412C>G (p.Ser1471Ter) n.723C>G c.4343C>G (p.Ser1448Ter) c.4409C>G (p.Ser1470Ter) n.555C>G n.2189C>G c.4462C>G n.2625C>G n.3356C>G n.1793C>G n.1764C>G n.1654C>G c.4196C>G (p.Ser1399Ter) c.*3708C>G (n.*3708C>G) c.4232C>G (p.Ser1411Ter) n.2299C>G c.723C>G n.1656C>G c.4595C>G (p.Ser1532Ter) c.4592C>G (p.Ser1531Ter) c.4484C>G (p.Ser1495Ter) c.4466C>G (p.Ser1489Ter) c.4463C>G (p.Ser1488Ter) c.3809C>G (p.Ser1270Ter) c.4757C>G (p.Ser1586Ter) c.4505C>G (p.Ser1502Ter) c.3251C>G (p.Ser1084Ter) | ClinVar dbSNP COSMIC COSMIC |
16 | g.2084998C>T | CA394302947 | TSC2 | c.*2890C>T (n.*2890C>T) c.4388C>T (p.Ser1463Leu) c.4538C>T (p.Ser1513Leu) c.*4921C>T (n.*4921C>T) c.*7290C>T (n.*7290C>T) c.4541C>T (p.Ser1514Leu) c.4472C>T (p.Ser1491Leu) c.4340C>T (p.Ser1447Leu) c.4373C>T (p.Ser1458Leu) c.764C>T n.2423C>T c.3195C>T c.4412C>T (p.Ser1471Leu) n.723C>T c.4343C>T (p.Ser1448Leu) c.4409C>T (p.Ser1470Leu) n.555C>T n.2189C>T c.4462C>T n.2625C>T n.3356C>T n.1793C>T n.1764C>T n.1654C>T c.4196C>T (p.Ser1399Leu) c.*3708C>T (n.*3708C>T) c.4232C>T (p.Ser1411Leu) n.2299C>T c.723C>T n.1656C>T c.4595C>T (p.Ser1532Leu) c.4592C>T (p.Ser1531Leu) c.4484C>T (p.Ser1495Leu) c.4466C>T (p.Ser1489Leu) c.4463C>T (p.Ser1488Leu) c.3809C>T (p.Ser1270Leu) c.4757C>T (p.Ser1586Leu) c.4505C>T (p.Ser1502Leu) c.3251C>T (p.Ser1084Leu) | gnomAD v4 |
16 | g.2084998_2084999delinsCA | CA2202018222 | TSC2 | c.*2890_*2891delinsCA (n.*2890_*2891delinsCA) c.4388_4389delinsCA (p.Ser1463=) c.4538_4539delinsCA (p.Ser1513=) c.*4921_*4922delinsCA (n.*4921_*4922delinsCA) c.*7290_*7291delinsCA (n.*7290_*7291delinsCA) c.4541_4542delinsCA (p.Ser1514=) c.4472_4473delinsCA (p.Ser1491=) c.4340_4341delinsCA (p.Ser1447=) c.4373_4374delinsCA (p.Ser1458=) c.764_765delinsCA n.2423_2424delinsCA c.3195_3196delinsCA c.4412_4413delinsCA (p.Ser1471=) n.723_724delinsCA c.4343_4344delinsCA (p.Ser1448=) c.4409_4410delinsCA (p.Ser1470=) n.555_556delinsCA n.2189_2190delinsCA c.4462_4463delinsCA n.2625_2626delinsCA n.3356_3357delinsCA n.1793_1794delinsCA n.1764_1765delinsCA n.1654_1655delinsCA c.4196_4197delinsCA (p.Ser1399=) c.*3708_*3709delinsCA (n.*3708_*3709delinsCA) c.4232_4233delinsCA (p.Ser1411=) n.2299_2300delinsCA c.723_724delinsCA n.1656_1657delinsCA c.4595_4596delinsCA (p.Ser1532=) c.4592_4593delinsCA (p.Ser1531=) c.4484_4485delinsCA (p.Ser1495=) c.4466_4467delinsCA (p.Ser1489=) c.4463_4464delinsCA (p.Ser1488=) c.3809_3810delinsCA (p.Ser1270=) c.4757_4758delinsCA (p.Ser1586=) c.4505_4506delinsCA (p.Ser1502=) c.3251_3252delinsCA (p.Ser1084=) | |
16 | g.2085001_2085004del | CA020626 | TSC2 | c.*2893_*2896del (n.*2893_*2896del) c.4391_4394del (p.Asn1464SerfsTer?) c.4541_4544del (p.Asn1514SerfsTer?) c.*4924_*4927del (n.*4924_*4927del) c.*7293_*7296del (n.*7293_*7296del) c.4544_4547del (p.Asn1515SerfsTer?) c.4475_4478del (p.Asn1492SerfsTer?) c.4343_4346del (p.Asn1448SerfsTer?) c.4376_4379del (p.Asn1459SerfsTer?) c.767_770del n.2426_2429del c.3198_3201del c.4415_4418del (p.Asn1472SerfsTer?) n.726_729del c.4346_4349del (p.Asn1449SerfsTer?) c.4412_4415del (p.Asn1471SerfsTer?) n.558_561del n.2192_2195del c.4465_4468del n.2628_2631del n.3359_3362del n.1796_1799del n.1767_1770del n.1657_1660del c.4199_4202del (p.Asn1400SerfsTer?) c.*3711_*3714del (n.*3711_*3714del) c.4235_4238del (p.Asn1412SerfsTer?) n.2302_2305del c.726_729del n.1659_1662del c.4598_4601del (p.Asn1533SerfsTer?) c.4595_4598del (p.Asn1532SerfsTer?) c.4487_4490del (p.Asn1496SerfsTer?) c.4469_4472del (p.Asn1490SerfsTer?) c.4466_4469del (p.Asn1489SerfsTer?) c.3812_3815del (p.Asn1271SerfsTer?) c.4760_4763del (p.Asn1587SerfsTer?) c.4508_4511del (p.Asn1503SerfsTer?) c.3254_3257del (p.Asn1085SerfsTer?) | ClinVar dbSNP |
16 | g.2084999A>C | CA493043429 | TSC2 | c.*2891A>C (n.*2891A>C) c.4389A>C (p.Ser1463=) c.4539A>C (p.Ser1513=) c.*4922A>C (n.*4922A>C) c.*7291A>C (n.*7291A>C) c.4542A>C (p.Ser1514=) c.4473A>C (p.Ser1491=) c.4341A>C (p.Ser1447=) c.4374A>C (p.Ser1458=) c.765A>C n.2424A>C c.3196A>C c.4413A>C (p.Ser1471=) n.724A>C c.4344A>C (p.Ser1448=) c.4410A>C (p.Ser1470=) n.556A>C n.2190A>C c.4463A>C n.2626A>C n.3357A>C n.1794A>C n.1765A>C n.1655A>C c.4197A>C (p.Ser1399=) c.*3709A>C (n.*3709A>C) c.4233A>C (p.Ser1411=) n.2300A>C c.724A>C n.1657A>C c.4596A>C (p.Ser1532=) c.4593A>C (p.Ser1531=) c.4485A>C (p.Ser1495=) c.4467A>C (p.Ser1489=) c.4464A>C (p.Ser1488=) c.3810A>C (p.Ser1270=) c.4758A>C (p.Ser1586=) c.4506A>C (p.Ser1502=) c.3252A>C (p.Ser1084=) | gnomAD v4 |
16 | g.2084999A>G | CA493043430 | TSC2 | c.*2891A>G (n.*2891A>G) c.4389A>G (p.Ser1463=) c.4539A>G (p.Ser1513=) c.*4922A>G (n.*4922A>G) c.*7291A>G (n.*7291A>G) c.4542A>G (p.Ser1514=) c.4473A>G (p.Ser1491=) c.4341A>G (p.Ser1447=) c.4374A>G (p.Ser1458=) c.765A>G n.2424A>G c.3196A>G c.4413A>G (p.Ser1471=) n.724A>G c.4344A>G (p.Ser1448=) c.4410A>G (p.Ser1470=) n.556A>G n.2190A>G c.4463A>G n.2626A>G n.3357A>G n.1794A>G n.1765A>G n.1655A>G c.4197A>G (p.Ser1399=) c.*3709A>G (n.*3709A>G) c.4233A>G (p.Ser1411=) n.2300A>G c.724A>G n.1657A>G c.4596A>G (p.Ser1532=) c.4593A>G (p.Ser1531=) c.4485A>G (p.Ser1495=) c.4467A>G (p.Ser1489=) c.4464A>G (p.Ser1488=) c.3810A>G (p.Ser1270=) c.4758A>G (p.Ser1586=) c.4506A>G (p.Ser1502=) c.3252A>G (p.Ser1084=) | |
16 | g.2084999A>T | CA493043431 | TSC2 | c.*2891A>T (n.*2891A>T) c.4389A>T (p.Ser1463=) c.4539A>T (p.Ser1513=) c.*4922A>T (n.*4922A>T) c.*7291A>T (n.*7291A>T) c.4542A>T (p.Ser1514=) c.4473A>T (p.Ser1491=) c.4341A>T (p.Ser1447=) c.4374A>T (p.Ser1458=) c.765A>T n.2424A>T c.3196A>T c.4413A>T (p.Ser1471=) n.724A>T c.4344A>T (p.Ser1448=) c.4410A>T (p.Ser1470=) n.556A>T n.2190A>T c.4463A>T n.2626A>T n.3357A>T n.1794A>T n.1765A>T n.1655A>T c.4197A>T (p.Ser1399=) c.*3709A>T (n.*3709A>T) c.4233A>T (p.Ser1411=) n.2300A>T c.724A>T n.1657A>T c.4596A>T (p.Ser1532=) c.4593A>T (p.Ser1531=) c.4485A>T (p.Ser1495=) c.4467A>T (p.Ser1489=) c.4464A>T (p.Ser1488=) c.3810A>T (p.Ser1270=) c.4758A>T (p.Ser1586=) c.4506A>T (p.Ser1502=) c.3252A>T (p.Ser1084=) | |
16 | g.2085001del | CA10603302 | TSC2 | c.*2893del (n.*2893del) c.4391del (p.Asn1464ThrfsTer?) c.4541del (p.Asn1514ThrfsTer?) c.*4924del (n.*4924del) c.*7293del (n.*7293del) c.4544del (p.Asn1515ThrfsTer?) c.4475del (p.Asn1492ThrfsTer?) c.4343del (p.Asn1448ThrfsTer?) c.4376del (p.Asn1459ThrfsTer?) c.767del n.2426del c.3198del c.4415del (p.Asn1472ThrfsTer?) n.726del c.4346del (p.Asn1449ThrfsTer?) c.4412del (p.Asn1471ThrfsTer?) n.558del n.2192del c.4465del n.2628del n.3359del n.1796del n.1767del n.1657del c.4199del (p.Asn1400ThrfsTer?) c.*3711del (n.*3711del) c.4235del (p.Asn1412ThrfsTer?) n.2302del c.726del n.1659del c.4598del (p.Asn1533ThrfsTer?) c.4595del (p.Asn1532ThrfsTer?) c.4487del (p.Asn1496ThrfsTer?) c.4469del (p.Asn1490ThrfsTer?) c.4466del (p.Asn1489ThrfsTer?) c.3812del (p.Asn1271ThrfsTer?) c.4760del (p.Asn1587ThrfsTer?) c.4508del (p.Asn1503ThrfsTer?) c.3254del (p.Asn1085ThrfsTer?) | ClinVar dbSNP |
16 | g.2085000A= | CA2202018238 | TSC2 | c.*2892A= (n.*2892A=) c.4390A= (p.Asn1464=) c.4540A= (p.Asn1514=) c.*4923A= (n.*4923A=) c.*7292A= (n.*7292A=) c.4543A= (p.Asn1515=) c.4474A= (p.Asn1492=) c.4342A= (p.Asn1448=) c.4375A= (p.Asn1459=) c.766A= n.2425A= c.3197A= c.4414A= (p.Asn1472=) n.725A= c.4345A= (p.Asn1449=) c.4411A= (p.Asn1471=) n.557A= n.2191A= c.4464A= n.2627A= n.3358A= n.1795A= n.1766A= n.1656A= c.4198A= (p.Asn1400=) c.*3710A= (n.*3710A=) c.4234A= (p.Asn1412=) n.2301A= c.725A= n.1658A= c.4597A= (p.Asn1533=) c.4594A= (p.Asn1532=) c.4486A= (p.Asn1496=) c.4468A= (p.Asn1490=) c.4465A= (p.Asn1489=) c.3811A= (p.Asn1271=) c.4759A= (p.Asn1587=) c.4507A= (p.Asn1503=) c.3253A= (p.Asn1085=) | |
16 | g.2085000A>C | CA394302952 | TSC2 | c.*2892A>C (n.*2892A>C) c.4390A>C (p.Asn1464His) c.4540A>C (p.Asn1514His) c.*4923A>C (n.*4923A>C) c.*7292A>C (n.*7292A>C) c.4543A>C (p.Asn1515His) c.4474A>C (p.Asn1492His) c.4342A>C (p.Asn1448His) c.4375A>C (p.Asn1459His) c.766A>C n.2425A>C c.3197A>C c.4414A>C (p.Asn1472His) n.725A>C c.4345A>C (p.Asn1449His) c.4411A>C (p.Asn1471His) n.557A>C n.2191A>C c.4464A>C n.2627A>C n.3358A>C n.1795A>C n.1766A>C n.1656A>C c.4198A>C (p.Asn1400His) c.*3710A>C (n.*3710A>C) c.4234A>C (p.Asn1412His) n.2301A>C c.725A>C n.1658A>C c.4597A>C (p.Asn1533His) c.4594A>C (p.Asn1532His) c.4486A>C (p.Asn1496His) c.4468A>C (p.Asn1490His) c.4465A>C (p.Asn1489His) c.3811A>C (p.Asn1271His) c.4759A>C (p.Asn1587His) c.4507A>C (p.Asn1503His) c.3253A>C (p.Asn1085His) | |
16 | g.2085000A>G | CA051560 | TSC2 | c.*2892A>G (n.*2892A>G) c.4390A>G (p.Asn1464Asp) c.4540A>G (p.Asn1514Asp) c.*4923A>G (n.*4923A>G) c.*7292A>G (n.*7292A>G) c.4543A>G (p.Asn1515Asp) c.4474A>G (p.Asn1492Asp) c.4342A>G (p.Asn1448Asp) c.4375A>G (p.Asn1459Asp) c.766A>G n.2425A>G c.3197A>G c.4414A>G (p.Asn1472Asp) n.725A>G c.4345A>G (p.Asn1449Asp) c.4411A>G (p.Asn1471Asp) n.557A>G n.2191A>G c.4464A>G n.2627A>G n.3358A>G n.1795A>G n.1766A>G n.1656A>G c.4198A>G (p.Asn1400Asp) c.*3710A>G (n.*3710A>G) c.4234A>G (p.Asn1412Asp) n.2301A>G c.725A>G n.1658A>G c.4597A>G (p.Asn1533Asp) c.4594A>G (p.Asn1532Asp) c.4486A>G (p.Asn1496Asp) c.4468A>G (p.Asn1490Asp) c.4465A>G (p.Asn1489Asp) c.3811A>G (p.Asn1271Asp) c.4759A>G (p.Asn1587Asp) c.4507A>G (p.Asn1503Asp) c.3253A>G (p.Asn1085Asp) | ClinVar dbSNP ExAC gnomAD v2 |
16 | g.2085000A>T | CA394302956 | TSC2 | c.*2892A>T (n.*2892A>T) c.4390A>T (p.Asn1464Tyr) c.4540A>T (p.Asn1514Tyr) c.*4923A>T (n.*4923A>T) c.*7292A>T (n.*7292A>T) c.4543A>T (p.Asn1515Tyr) c.4474A>T (p.Asn1492Tyr) c.4342A>T (p.Asn1448Tyr) c.4375A>T (p.Asn1459Tyr) c.766A>T n.2425A>T c.3197A>T c.4414A>T (p.Asn1472Tyr) n.725A>T c.4345A>T (p.Asn1449Tyr) c.4411A>T (p.Asn1471Tyr) n.557A>T n.2191A>T c.4464A>T n.2627A>T n.3358A>T n.1795A>T n.1766A>T n.1656A>T c.4198A>T (p.Asn1400Tyr) c.*3710A>T (n.*3710A>T) c.4234A>T (p.Asn1412Tyr) n.2301A>T c.725A>T n.1658A>T c.4597A>T (p.Asn1533Tyr) c.4594A>T (p.Asn1532Tyr) c.4486A>T (p.Asn1496Tyr) c.4468A>T (p.Asn1490Tyr) c.4465A>T (p.Asn1489Tyr) c.3811A>T (p.Asn1271Tyr) c.4759A>T (p.Asn1587Tyr) c.4507A>T (p.Asn1503Tyr) c.3253A>T (p.Asn1085Tyr) | gnomAD v4 |
16 | g.2085001A= | CA2202018241 | TSC2 | c.*2893A= (n.*2893A=) c.4391A= (p.Asn1464=) c.4541A= (p.Asn1514=) c.*4924A= (n.*4924A=) c.*7293A= (n.*7293A=) c.4544A= (p.Asn1515=) c.4475A= (p.Asn1492=) c.4343A= (p.Asn1448=) c.4376A= (p.Asn1459=) c.767A= n.2426A= c.3198A= c.4415A= (p.Asn1472=) n.726A= c.4346A= (p.Asn1449=) c.4412A= (p.Asn1471=) n.558A= n.2192A= c.4465A= n.2628A= n.3359A= n.1796A= n.1767A= n.1657A= c.4199A= (p.Asn1400=) c.*3711A= (n.*3711A=) c.4235A= (p.Asn1412=) n.2302A= c.726A= n.1659A= c.4598A= (p.Asn1533=) c.4595A= (p.Asn1532=) c.4487A= (p.Asn1496=) c.4469A= (p.Asn1490=) c.4466A= (p.Asn1489=) c.3812A= (p.Asn1271=) c.4760A= (p.Asn1587=) c.4508A= (p.Asn1503=) c.3254A= (p.Asn1085=) | |
16 | g.2085001A>C | CA394302958 | TSC2 | c.*2893A>C (n.*2893A>C) c.4391A>C (p.Asn1464Thr) c.4541A>C (p.Asn1514Thr) c.*4924A>C (n.*4924A>C) c.*7293A>C (n.*7293A>C) c.4544A>C (p.Asn1515Thr) c.4475A>C (p.Asn1492Thr) c.4343A>C (p.Asn1448Thr) c.4376A>C (p.Asn1459Thr) c.767A>C n.2426A>C c.3198A>C c.4415A>C (p.Asn1472Thr) n.726A>C c.4346A>C (p.Asn1449Thr) c.4412A>C (p.Asn1471Thr) n.558A>C n.2192A>C c.4465A>C n.2628A>C n.3359A>C n.1796A>C n.1767A>C n.1657A>C c.4199A>C (p.Asn1400Thr) c.*3711A>C (n.*3711A>C) c.4235A>C (p.Asn1412Thr) n.2302A>C c.726A>C n.1659A>C c.4598A>C (p.Asn1533Thr) c.4595A>C (p.Asn1532Thr) c.4487A>C (p.Asn1496Thr) c.4469A>C (p.Asn1490Thr) c.4466A>C (p.Asn1489Thr) c.3812A>C (p.Asn1271Thr) c.4760A>C (p.Asn1587Thr) c.4508A>C (p.Asn1503Thr) c.3254A>C (p.Asn1085Thr) | |
16 | g.2085001A>G | CA394302961 | TSC2 | c.*2893A>G (n.*2893A>G) c.4391A>G (p.Asn1464Ser) c.4541A>G (p.Asn1514Ser) c.*4924A>G (n.*4924A>G) c.*7293A>G (n.*7293A>G) c.4544A>G (p.Asn1515Ser) c.4475A>G (p.Asn1492Ser) c.4343A>G (p.Asn1448Ser) c.4376A>G (p.Asn1459Ser) c.767A>G n.2426A>G c.3198A>G c.4415A>G (p.Asn1472Ser) n.726A>G c.4346A>G (p.Asn1449Ser) c.4412A>G (p.Asn1471Ser) n.558A>G n.2192A>G c.4465A>G n.2628A>G n.3359A>G n.1796A>G n.1767A>G n.1657A>G c.4199A>G (p.Asn1400Ser) c.*3711A>G (n.*3711A>G) c.4235A>G (p.Asn1412Ser) n.2302A>G c.726A>G n.1659A>G c.4598A>G (p.Asn1533Ser) c.4595A>G (p.Asn1532Ser) c.4487A>G (p.Asn1496Ser) c.4469A>G (p.Asn1490Ser) c.4466A>G (p.Asn1489Ser) c.3812A>G (p.Asn1271Ser) c.4760A>G (p.Asn1587Ser) c.4508A>G (p.Asn1503Ser) c.3254A>G (p.Asn1085Ser) | ClinVar dbSNP |
16 | g.2085001A>T | CA394302964 | TSC2 | c.*2893A>T (n.*2893A>T) c.4391A>T (p.Asn1464Ile) c.4541A>T (p.Asn1514Ile) c.*4924A>T (n.*4924A>T) c.*7293A>T (n.*7293A>T) c.4544A>T (p.Asn1515Ile) c.4475A>T (p.Asn1492Ile) c.4343A>T (p.Asn1448Ile) c.4376A>T (p.Asn1459Ile) c.767A>T n.2426A>T c.3198A>T c.4415A>T (p.Asn1472Ile) n.726A>T c.4346A>T (p.Asn1449Ile) c.4412A>T (p.Asn1471Ile) n.558A>T n.2192A>T c.4465A>T n.2628A>T n.3359A>T n.1796A>T n.1767A>T n.1657A>T c.4199A>T (p.Asn1400Ile) c.*3711A>T (n.*3711A>T) c.4235A>T (p.Asn1412Ile) n.2302A>T c.726A>T n.1659A>T c.4598A>T (p.Asn1533Ile) c.4595A>T (p.Asn1532Ile) c.4487A>T (p.Asn1496Ile) c.4469A>T (p.Asn1490Ile) c.4466A>T (p.Asn1489Ile) c.3812A>T (p.Asn1271Ile) c.4760A>T (p.Asn1587Ile) c.4508A>T (p.Asn1503Ile) c.3254A>T (p.Asn1085Ile) | |
16 | g.2085002_2085003del | CA2695221406 | TSC2 | c.*2894_*2895del (n.*2894_*2895del) c.4392_4393del (p.Asn1464LysfsTer8) c.4542_4543del (p.Asn1514LysfsTer8) c.*4925_*4926del (n.*4925_*4926del) c.*7294_*7295del (n.*7294_*7295del) c.4545_4546del (p.Asn1515LysfsTer8) c.4476_4477del (p.Asn1492LysfsTer8) c.4344_4345del (p.Asn1448LysfsTer8) c.4377_4378del (p.Asn1459LysfsTer8) c.768_769del n.2427_2428del c.3199_3200del c.4416_4417del (p.Asn1472LysfsTer8) n.727_728del c.4347_4348del (p.Asn1449LysfsTer8) c.4413_4414del (p.Asn1471LysfsTer8) n.559_560del n.2193_2194del c.4466_4467del n.2629_2630del n.3360_3361del n.1797_1798del n.1768_1769del n.1658_1659del c.4200_4201del (p.Asn1400LysfsTer8) c.*3712_*3713del (n.*3712_*3713del) c.4236_4237del (p.Asn1412LysfsTer8) n.2303_2304del c.727_728del n.1660_1661del c.4599_4600del (p.Asn1533LysfsTer8) c.4596_4597del (p.Asn1532LysfsTer8) c.4488_4489del (p.Asn1496LysfsTer8) c.4470_4471del (p.Asn1490LysfsTer8) c.4467_4468del (p.Asn1489LysfsTer8) c.3813_3814del (p.Asn1271LysfsTer8) c.4761_4762del (p.Asn1587LysfsTer8) c.4509_4510del (p.Asn1503LysfsTer8) c.3255_3256del (p.Asn1085LysfsTer8) | |
16 | g.2085001_2085005delinsACAAG | CA2202018240 | TSC2 | c.*2893_*2897delinsACAAG (n.*2893_*2897delinsACAAG) c.4391_4395delinsACAAG (p.Asn1464=) c.4541_4545delinsACAAG (p.Asn1514=) c.*4924_*4928delinsACAAG (n.*4924_*4928delinsACAAG) c.*7293_*7297delinsACAAG (n.*7293_*7297delinsACAAG) c.4544_4548delinsACAAG (p.Asn1515=) c.4475_4479delinsACAAG (p.Asn1492=) c.4343_4347delinsACAAG (p.Asn1448=) c.4376_4380delinsACAAG (p.Asn1459=) c.767_771delinsACAAG n.2426_2430delinsACAAG c.3198_3202delinsACAAG c.4415_4419delinsACAAG (p.Asn1472=) n.726_730delinsACAAG c.4346_4350delinsACAAG (p.Asn1449=) c.4412_4416delinsACAAG (p.Asn1471=) n.558_562delinsACAAG n.2192_2196delinsACAAG c.4465_4469delinsACAAG n.2628_2632delinsACAAG n.3359_3363delinsACAAG n.1796_1800delinsACAAG n.1767_1771delinsACAAG n.1657_1661delinsACAAG c.4199_4203delinsACAAG (p.Asn1400=) c.*3711_*3715delinsACAAG (n.*3711_*3715delinsACAAG) c.4235_4239delinsACAAG (p.Asn1412=) n.2302_2306delinsACAAG c.726_730delinsACAAG n.1659_1663delinsACAAG c.4598_4602delinsACAAG (p.Asn1533=) c.4595_4599delinsACAAG (p.Asn1532=) c.4487_4491delinsACAAG (p.Asn1496=) c.4469_4473delinsACAAG (p.Asn1490=) c.4466_4470delinsACAAG (p.Asn1489=) c.3812_3816delinsACAAG (p.Asn1271=) c.4760_4764delinsACAAG (p.Asn1587=) c.4508_4512delinsACAAG (p.Asn1503=) c.3254_3258delinsACAAG (p.Asn1085=) | |
16 | g.2085002C>A | CA051571 | TSC2 | c.*2894C>A (n.*2894C>A) c.4392C>A (p.Asn1464Lys) c.4542C>A (p.Asn1514Lys) c.*4925C>A (n.*4925C>A) c.*7294C>A (n.*7294C>A) c.4545C>A (p.Asn1515Lys) c.4476C>A (p.Asn1492Lys) c.4344C>A (p.Asn1448Lys) c.4377C>A (p.Asn1459Lys) c.768C>A n.2427C>A c.3199C>A c.4416C>A (p.Asn1472Lys) n.727C>A c.4347C>A (p.Asn1449Lys) c.4413C>A (p.Asn1471Lys) n.559C>A n.2193C>A c.4466C>A n.2629C>A n.3360C>A n.1797C>A n.1768C>A n.1658C>A c.4200C>A (p.Asn1400Lys) c.*3712C>A (n.*3712C>A) c.4236C>A (p.Asn1412Lys) n.2303C>A c.727C>A n.1660C>A c.4599C>A (p.Asn1533Lys) c.4596C>A (p.Asn1532Lys) c.4488C>A (p.Asn1496Lys) c.4470C>A (p.Asn1490Lys) c.4467C>A (p.Asn1489Lys) c.3813C>A (p.Asn1271Lys) c.4761C>A (p.Asn1587Lys) c.4509C>A (p.Asn1503Lys) c.3255C>A (p.Asn1085Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2085002C= | CA2202018247 | TSC2 | c.*2894C= (n.*2894C=) c.4392C= (p.Asn1464=) c.4542C= (p.Asn1514=) c.*4925C= (n.*4925C=) c.*7294C= (n.*7294C=) c.4545C= (p.Asn1515=) c.4476C= (p.Asn1492=) c.4344C= (p.Asn1448=) c.4377C= (p.Asn1459=) c.768C= n.2427C= c.3199C= c.4416C= (p.Asn1472=) n.727C= c.4347C= (p.Asn1449=) c.4413C= (p.Asn1471=) n.559C= n.2193C= c.4466C= n.2629C= n.3360C= n.1797C= n.1768C= n.1658C= c.4200C= (p.Asn1400=) c.*3712C= (n.*3712C=) c.4236C= (p.Asn1412=) n.2303C= c.727C= n.1660C= c.4599C= (p.Asn1533=) c.4596C= (p.Asn1532=) c.4488C= (p.Asn1496=) c.4470C= (p.Asn1490=) c.4467C= (p.Asn1489=) c.3813C= (p.Asn1271=) c.4761C= (p.Asn1587=) c.4509C= (p.Asn1503=) c.3255C= (p.Asn1085=) | |
16 | g.2085002C>G | CA394302970 | TSC2 | c.*2894C>G (n.*2894C>G) c.4392C>G (p.Asn1464Lys) c.4542C>G (p.Asn1514Lys) c.*4925C>G (n.*4925C>G) c.*7294C>G (n.*7294C>G) c.4545C>G (p.Asn1515Lys) c.4476C>G (p.Asn1492Lys) c.4344C>G (p.Asn1448Lys) c.4377C>G (p.Asn1459Lys) c.768C>G n.2427C>G c.3199C>G c.4416C>G (p.Asn1472Lys) n.727C>G c.4347C>G (p.Asn1449Lys) c.4413C>G (p.Asn1471Lys) n.559C>G n.2193C>G c.4466C>G n.2629C>G n.3360C>G n.1797C>G n.1768C>G n.1658C>G c.4200C>G (p.Asn1400Lys) c.*3712C>G (n.*3712C>G) c.4236C>G (p.Asn1412Lys) n.2303C>G c.727C>G n.1660C>G c.4599C>G (p.Asn1533Lys) c.4596C>G (p.Asn1532Lys) c.4488C>G (p.Asn1496Lys) c.4470C>G (p.Asn1490Lys) c.4467C>G (p.Asn1489Lys) c.3813C>G (p.Asn1271Lys) c.4761C>G (p.Asn1587Lys) c.4509C>G (p.Asn1503Lys) c.3255C>G (p.Asn1085Lys) | dbSNP |
16 | g.2085002C>T | CA051574 | TSC2 | c.*2894C>T (n.*2894C>T) c.4392C>T (p.Asn1464=) c.4542C>T (p.Asn1514=) c.*4925C>T (n.*4925C>T) c.*7294C>T (n.*7294C>T) c.4545C>T (p.Asn1515=) c.4476C>T (p.Asn1492=) c.4344C>T (p.Asn1448=) c.4377C>T (p.Asn1459=) c.768C>T n.2427C>T c.3199C>T c.4416C>T (p.Asn1472=) n.727C>T c.4347C>T (p.Asn1449=) c.4413C>T (p.Asn1471=) n.559C>T n.2193C>T c.4466C>T n.2629C>T n.3360C>T n.1797C>T n.1768C>T n.1658C>T c.4200C>T (p.Asn1400=) c.*3712C>T (n.*3712C>T) c.4236C>T (p.Asn1412=) n.2303C>T c.727C>T n.1660C>T c.4599C>T (p.Asn1533=) c.4596C>T (p.Asn1532=) c.4488C>T (p.Asn1496=) c.4470C>T (p.Asn1490=) c.4467C>T (p.Asn1489=) c.3813C>T (p.Asn1271=) c.4761C>T (p.Asn1587=) c.4509C>T (p.Asn1503=) c.3255C>T (p.Asn1085=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2085003_2085006del | CA10603313 | TSC2 | c.*2895_*2898del (n.*2895_*2898del) c.4393_4396del (p.Lys1465GlnfsTer?) c.4543_4546del (p.Lys1515GlnfsTer?) c.*4926_*4929del (n.*4926_*4929del) c.*7295_*7298del (n.*7295_*7298del) c.4546_4549del (p.Lys1516GlnfsTer?) c.4477_4480del (p.Lys1493GlnfsTer?) c.4345_4348del (p.Lys1449GlnfsTer?) c.4378_4381del (p.Lys1460GlnfsTer?) c.769_772del n.2428_2431del c.3200_3203del c.4417_4420del (p.Lys1473GlnfsTer?) n.728_731del c.4348_4351del (p.Lys1450GlnfsTer?) c.4414_4417del (p.Lys1472GlnfsTer?) n.560_563del n.2194_2197del c.4467_4470del n.2630_2633del n.3361_3364del n.1798_1801del n.1769_1772del n.1659_1662del c.4201_4204del (p.Lys1401GlnfsTer?) c.*3713_*3716del (n.*3713_*3716del) c.4237_4240del (p.Lys1413GlnfsTer?) n.2304_2307del c.728_731del n.1661_1664del c.4600_4603del (p.Lys1534GlnfsTer?) c.4597_4600del (p.Lys1533GlnfsTer?) c.4489_4492del (p.Lys1497GlnfsTer?) c.4471_4474del (p.Lys1491GlnfsTer?) c.4468_4471del (p.Lys1490GlnfsTer?) c.3814_3817del (p.Lys1272GlnfsTer?) c.4762_4765del (p.Lys1588GlnfsTer?) c.4510_4513del (p.Lys1504GlnfsTer?) c.3256_3259del (p.Lys1086GlnfsTer?) | ClinVar dbSNP |
16 | g.2085003A= | CA2202018252 | TSC2 | c.*2895A= (n.*2895A=) c.4393A= (p.Lys1465=) c.4543A= (p.Lys1515=) c.*4926A= (n.*4926A=) c.*7295A= (n.*7295A=) c.4546A= (p.Lys1516=) c.4477A= (p.Lys1493=) c.4345A= (p.Lys1449=) c.4378A= (p.Lys1460=) c.769A= n.2428A= c.3200A= c.4417A= (p.Lys1473=) n.728A= c.4348A= (p.Lys1450=) c.4414A= (p.Lys1472=) n.560A= n.2194A= c.4467A= n.2630A= n.3361A= n.1798A= n.1769A= n.1659A= c.4201A= (p.Lys1401=) c.*3713A= (n.*3713A=) c.4237A= (p.Lys1413=) n.2304A= c.728A= n.1661A= c.4600A= (p.Lys1534=) c.4597A= (p.Lys1533=) c.4489A= (p.Lys1497=) c.4471A= (p.Lys1491=) c.4468A= (p.Lys1490=) c.3814A= (p.Lys1272=) c.4762A= (p.Lys1588=) c.4510A= (p.Lys1504=) c.3256A= (p.Lys1086=) |