Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2083198_2087918delCA16614787TSC2c.*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
16g.2084996_2084997insGGGCGACGAGCA2697549580TSC2c.*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)
16g.2084993_2084995delCA2631120446TSC2c.*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
16g.2084992_2084996delCA2695221405TSC2c.*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)
16g.2084993_2085000delCA2580617464TSC2c.*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
16g.2084993_2084994delinsCGCA2202018187TSC2c.*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=)
16g.2084994delCA020622TSC2c.*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
16g.2084994G>ACA051548TSC2c.*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
16g.2084994G>CCA394302908TSC2c.*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
16g.2084994G=CA2202018196TSC2c.*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=)
16g.2084994G>TCA394302913TSC2c.*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
16g.2084995A=CA2202018201TSC2c.*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=)
16g.2084995A>CCA394302917TSC2c.*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)
16g.2084995A>GCA394302919TSC2c.*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
16g.2084995A>TCA394302921TSC2c.*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)
16g.2084996G>ACA493043423TSC2c.*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
16g.2084996G>CCA394302924TSC2c.*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)
16g.2084996G=CA2202018205TSC2c.*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=)
16g.2084996G>TCA394302926TSC2c.*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)
16g.2084997T>ACA051552TSC2c.*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
16g.2084997T>CCA394302932TSC2c.*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
16g.2084997T>GCA394302934TSC2c.*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)
16g.2084997T=CA2202018216TSC2c.*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=)
16g.2084997_2085001delinsTCAAACA2202018211TSC2c.*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=)
16g.2084998C>ACA051555TSC2c.*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
16g.2084998C=CA2202018225TSC2c.*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=)
16g.2084998C>GCA394302943TSC2c.*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
16g.2084998C>TCA394302947TSC2c.*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
16g.2084998_2084999delinsCACA2202018222TSC2c.*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=)
16g.2085001_2085004delCA020626TSC2c.*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
16g.2084999A>CCA493043429TSC2c.*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
16g.2084999A>GCA493043430TSC2c.*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=)
16g.2084999A>TCA493043431TSC2c.*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=)
16g.2085001delCA10603302TSC2c.*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
16g.2085000A=CA2202018238TSC2c.*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=)
16g.2085000A>CCA394302952TSC2c.*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)
16g.2085000A>GCA051560TSC2c.*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
16g.2085000A>TCA394302956TSC2c.*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
16g.2085001A=CA2202018241TSC2c.*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=)
16g.2085001A>CCA394302958TSC2c.*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)
16g.2085001A>GCA394302961TSC2c.*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
16g.2085001A>TCA394302964TSC2c.*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)
16g.2085002_2085003delCA2695221406TSC2c.*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)
16g.2085001_2085005delinsACAAGCA2202018240TSC2c.*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=)
16g.2085002C>ACA051571TSC2c.*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
16g.2085002C=CA2202018247TSC2c.*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=)
16g.2085002C>GCA394302970TSC2c.*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
16g.2085002C>TCA051574TSC2c.*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
16g.2085003_2085006delCA10603313TSC2c.*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
16g.2085003A=CA2202018252TSC2c.*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=)

Number of alleles fetched