./. |
3i |
c.107-2A>G |
r.spl? |
p.? |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
- |
g.135802693T>C |
- |
TSC1_000001 |
- |
Y Yang |
./. |
4 |
c.145delT |
r.(?) |
p.(Tyr49Thrfs*13) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.135802653delA |
- |
TSC1_000002 |
- |
Y Yang |
./. |
4 |
c.153A>C |
r.(?) |
p.(Glu51Asp) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.135802645T>G |
- |
TSC1_000003 |
- |
Y Yang |
./. |
4i |
c.210+33G>A |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
- |
g.135802555C>T |
- |
TSC1_000004 |
- |
Y Yang |
./. |
4i |
c.211-1G>A |
r.spl? |
p.? |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
- |
g.135801127C>T |
- |
TSC1_000005 |
- |
Y Yang |
./. |
5 |
c.272C>A |
r.(?) |
p.(Ser91*) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0015 protein truncation |
g.135801065G>T |
- |
TSC1_000006 |
- |
Y Yang |
./. |
5 |
c.308G>A |
r.(?) |
p.(Trp103*) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0015 protein truncation |
g.135801029C>T |
- |
TSC1_000007 |
- |
Y Yang |
./. |
5 |
c.309G>A |
r.(?) |
p.(Trp103*) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0015 protein truncation |
g.135801028C>T |
- |
TSC1_000008 |
- |
Y Yang |
./. |
5 |
c.334_335insTC |
r.(?) |
p.(Leu113Phefs*6) |
VariO:0142 DNA insertion |
VariO:0023 amphigoric amino acid indel |
g.135801002_135801003insGA |
- |
TSC1_000009 |
- |
Y Yang |
./. |
5i |
c.364-1G>C |
r.spl? |
p.? |
VariO:0136 DNA substitution; VariO:0316 transversion |
- |
g.135798880C>G |
- |
TSC1_000010 |
- |
Y Yang |
./. |
6 |
c.372_373insT |
r.(?) |
p.(Asp125*) |
VariO:0142 DNA insertion |
VariO:0015 protein truncation |
g.135798870_135798871insA |
- |
TSC1_000011 |
- |
Y Yang |
./. |
7 |
c.526_527delTA |
r.(?) |
p.(Tyr176Serfs*41) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.135797342_135797343delTA |
- |
TSC1_000012 |
- |
Y Yang |
./. |
7 |
c.532G>A |
r.(?) |
p.(Val178Ile) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.135797337C>T |
- |
TSC1_000013 |
- |
Y Yang |
./. |
7 |
c.555C>T |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
- |
g.135797314G>A |
- |
TSC1_000014 |
- |
Y Yang |
./. |
7 |
c.568C>T |
r.(?) |
p.(Arg190Cys) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.135797301G>A |
- |
TSC1_000015 |
- |
Y Yang |
./. |
7 |
c.572T>A |
r.(?) |
p.(Leu191His) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.135797297A>T |
- |
TSC1_000016 |
- |
Y Yang |
./. |
7 |
c.593_595delACT |
r.(?) |
p.(Asn198_Phe199delinsIle) |
VariO:0141 DNA deletion |
VariO:0029 sequence retaining amino acid indel |
g.135797274_135797276delAGT |
- |
TSC1_000017 |
- |
Y Yang |
./. |
7 |
c.647_648delTT |
r.(?) |
p.(Phe216*) |
VariO:0141 DNA deletion |
VariO:0015 protein truncation |
g.135797221_135797222delAA |
- |
TSC1_000018 |
- |
Y Yang |
./. |
7 |
c.654_655insA |
r.(?) |
p.(Val219Serfs*23) |
VariO:0142 DNA insertion |
VariO:0023 amphigoric amino acid indel |
g.135797214_135797215insT |
- |
TSC1_000019 |
- |
Y Yang |
./. |
7i |
c.664-15A>G |
r.(?) |
p.(?) |
- |
- |
g.135796838T>C |
Tyburczy ME et al. (2015) |
TSC1_000117 |
- |
XY Liu |
./. |
8 |
c.671T>G |
r.(?) |
p.(Met224Arg) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.135796816A>C |
- |
TSC1_000020 |
- |
Y Yang |
./. |
8 |
c.682C>T |
r.(?) |
p.(Arg228*) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0015 protein truncation |
g.135796805G>A |
- |
TSC1_000021 |
- |
Y Yang |
./. |
8 |
c.723_724insA |
r.(?) |
p.(Leu242Thrfs*13) |
VariO:0142 DNA insertion |
VariO:0023 amphigoric amino acid indel |
g.135796763_135796764insT |
- |
TSC1_000022 |
- |
Y Yang |
./. |
8 |
c.733C>T |
r.(?) |
p.(Arg245*) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0015 protein truncation |
g.135796754G>A |
- |
TSC1_000023 |
- |
Y Yang |
./. |
8 |
c.737delG |
r.spl? |
p.? |
VariO:0141 DNA deletion |
- |
g.135796750delC |
- |
TSC1_000024 |
- |
Y Yang |
./. |
8i |
c.737+3A>G |
r.spl? |
p.? |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
- |
g.135796747T>C |
- |
TSC1_000025 |
- |
Y Yang |
./. |
9 |
c.738G>A |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
- |
g.135787844C>T |
- |
TSC1_000026 |
- |
Y Yang |
./. |
9 |
c.745A>T |
r.(?) |
p.(Arg249*) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0015 protein truncation |
g.135787837T>A |
- |
TSC1_000027 |
- |
Y Yang |
./. |
9 |
c.745delA |
r.(?) |
p.(Arg249Aspfs*2) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.135787837delT |
- |
TSC1_000028 |
- |
Y Yang |
./. |
9 |
c.749T>G |
r.(?) |
p.(Leu250*) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0015 protein truncation |
g.135787833A>C |
- |
TSC1_000029 |
- |
Y Yang |
./. |
9 |
c.772G>T |
r.(?) |
p.(Glu258*) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0015 protein truncation |
g.135787810C>A |
- |
TSC1_000030 |
- |
Y Yang |
./. |
9 |
c.891T>G |
r.(?) |
p.(Tyr297*) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0015 protein truncation |
g.135787691A>C |
- |
TSC1_000031 |
- |
Y Yang |
./. |
9 |
c.901C>T |
r.(?) |
p.(Gln301*) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0015 protein truncation |
g.135787681G>A |
- |
TSC1_000032 |
- |
Y Yang |
./. |
9 |
c.901_913+1delCAGAATAGCTATGG |
r.spl? |
p.? |
VariO:0141 DNA deletion |
- |
g.135787668_135787681delCCATAGCTATTCTG |
- |
TSC1_000033 |
- |
Y Yang |
./. |
9i |
c.913+3A>T |
r.(?) |
p.(?) |
- |
- |
g.135787666T>A |
Tyburczy ME et al. (2015) |
TSC1_000118 |
- |
XY Liu |
./. |
9i |
c.914-18T>C |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
- |
g.135786973A>G |
- |
TSC1_000034 |
- |
Y Yang |
./. |
10 |
c.936C>A |
r.(?) |
p.(Tyr312*) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0015 protein truncation |
g.135786933G>T |
- |
TSC1_000035 |
- |
Y Yang |
./. |
10 |
c.965T>C |
r.(?) |
p.(Met322Thr) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.135786904A>G |
- |
TSC1_000036 |
- |
Y Yang |
./. |
10 |
c.988_989delCT |
r.(?) |
p.(Leu330Glufs*10) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.135786880_135786881delAG |
- |
TSC1_000037 |
- |
Y Yang |
./. |
10 |
c.989_990insT |
r.(?) |
p.(Ser331Glufs*10) |
VariO:0142 DNA insertion |
VariO:0023 amphigoric amino acid indel |
g.135786879_135786880insA |
- |
TSC1_000038 |
- |
Y Yang |
./. |
10 |
c.1001C>A |
r.(?) |
p.(Ser334*) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0015 protein truncation |
g.135786868G>T |
- |
TSC1_000039 |
- |
Y Yang |
./. |
10 |
c.1019delA |
r.(?) |
p.(Glu340Aspfs*16) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.135786850delT |
- |
TSC1_000040 |
- |
Y Yang |
./. |
10i |
c.1029+1G>A |
r.spl? |
p.? |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
- |
g.135786839C>T |
- |
TSC1_000041 |
- |
Y Yang |
./. |
10i |
c.1030-9A>G |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
- |
g.135786509T>C |
- |
TSC1_000042 |
- |
Y Yang |
./. |
11 |
c.1110_1111insA |
r.(?) |
p.(His371Thrfs*5) |
VariO:0142 DNA insertion |
VariO:0023 amphigoric amino acid indel |
g.135786419_135786420insT |
- |
TSC1_000043 |
- |
Y Yang |
./. |
12 |
c.1203delT |
r.(?) |
p.(His402Ilefs*38) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.135786018delA |
- |
TSC1_000044 |
- |
Y Yang |
./. |
12 |
c.1208C>T |
r.(?) |
p.(Ser403Leu) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.135786013G>A |
- |
TSC1_000045 |
- |
Y Yang |
./. |
12 |
c.1252delC |
r.(?) |
p.(Arg420Glyfs*20) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.135785969delG |
- |
TSC1_000046 |
- |
Y Yang |
./. |
13 |
c.1278delT |
r.(?) |
p.(Ser427Leufs*13) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.135782743delA |
- |
TSC1_000047 |
- |
Y Yang |
./. |
13 |
c.1331C>G |
r.(?) |
p.(Ser444*) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0015 protein truncation |
g.135782690G>C |
- |
TSC1_000048 |
- |
Y Yang |
./. |
13i |
c.1333+13C>T |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
- |
g.135782675G>A |
- |
TSC1_000049 |
- |
Y Yang |
./. |
13i |
c.1334-55C>G |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0316 transversion |
- |
g.135782277G>C |
- |
TSC1_000050 |
- |
Y Yang |
./. |
14 |
c.1335A>G |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
- |
g.135782221T>C |
- |
TSC1_000051 |
- |
Y Yang |
./. |
14 |
c.1433_1434insGA |
r.(?) |
p.(Glu479Lysfs*54) |
VariO:0142 DNA insertion |
VariO:0023 amphigoric amino acid indel |
g.135782122_135782123insTC |
- |
TSC1_000052 |
- |
Y Yang |
./. |
15 |
c.1498C>T |
r.(?) |
p.(Arg500*) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0015 protein truncation |
g.135781467G>A |
- |
TSC1_000053 |
- |
Y Yang |
./. |
15 |
c.1498C>T |
r.(?) |
p.(Arg509*) |
- |
- |
g.135781467G>A |
Tyburczy ME et al. (2015) |
TSC1_000053 |
- |
XY Liu |
./. |
15 |
c.1525C>T |
r.(?) |
p.(Arg509*) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0015 protein truncation |
g.135781440G>A |
- |
TSC1_000054 |
- |
Y Yang |
./. |
15 |
c.1529_1530delAC |
r.(?) |
p.(Asp510Glufs*24) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.135781435_135781436delGT |
- |
TSC1_000055 |
- |
Y Yang |
./. |
15 |
c.1580_1581delAG |
r.(?) |
p.(Gln527Argfs*7) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.135781384_135781385delCT |
- |
TSC1_000056 |
- |
Y Yang |
./. |
15 |
c.1669C>T |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
- |
g.135781296G>A |
- |
TSC1_000057 |
- |
Y Yang |
./. |
15 |
c.1671_1693delGCCCTGCGGCAGTGCTGATGAAA |
r.(?) |
p.(Ser561Argfs*19) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.135781272_135781294delTTTCATCAGCACTGCCGCAGGGC |
- |
TSC1_000058 |
- |
Y Yang |
./. |
15 |
c.1671_1693dup |
r.(?) |
p.(Gly568Alafs*69) |
VariO:0142 DNA insertion |
VariO:0023 amphigoric amino acid indel |
g.135781272_135781294dup |
- |
TSC1_000059 |
- |
Y Yang |
./. |
15 |
c.1708_1709delAG |
r.(?) |
p.(Arg570Glyfs*17) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.135781256_135781257delCT |
- |
TSC1_000060 |
- |
Y Yang |
./. |
15 |
c.1717C>T |
r.(?) |
p.(Gln573*) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0015 protein truncation |
g.135781248G>A |
- |
TSC1_000061 |
- |
Y Yang |
./. |
15 |
c.1729G>T |
r.(?) |
p.(Glu577*) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0015 protein truncation |
g.135781236C>A |
- |
TSC1_000062 |
- |
Y Yang |
./. |
15 |
c.1757_1765delGTAAAATTC |
r.(?) |
p.(Cys586_Pro589delinsSer) |
VariO:0141 DNA deletion |
VariO:0029 sequence retaining amino acid indel |
g.135781200_135781208delGAATTTTAC |
- |
TSC1_000063 |
- |
Y Yang |
./. |
15 |
c.1760A>G |
r.(?) |
p.(Lys587Arg) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.135781205T>C |
- |
TSC1_000064 |
- |
Y Yang |
./. |
15 |
c.1774_1775dup |
r.(?) |
p.(Val594Glufs*36) |
VariO:0142 DNA insertion |
VariO:0023 amphigoric amino acid indel |
g.135781190_135781191dup |
- |
TSC1_000065 |
- |
Y Yang |
./. |
15 |
c.1786delT |
r.(?) |
p.(Phe596Leufs*33) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.135781179delA |
- |
TSC1_000066 |
- |
Y Yang |
./. |
15 |
c.1823_1824delTT |
r.(?) |
p.(Phe608*) |
VariO:0141 DNA deletion |
VariO:0015 protein truncation |
g.135781141_135781142delAA |
- |
TSC1_000067 |
- |
Y Yang |
./. |
15 |
c.1839delA |
r.(?) |
p.(Lys614Argfs*15) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.135781126delT |
- |
TSC1_000068 |
- |
Y Yang |
./. |
15 |
c.1884_1887delAAAG |
r.(?) |
p.(Lys630Glnfs*22) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.135781078_135781081delCTTT |
- |
TSC1_000069 |
- |
Y Yang |
./. |
15 |
c.1901_1902delAC |
r.(?) |
p.(Thr635Argfs*52) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.135781063_135781064delGT |
- |
TSC1_000070 |
- |
Y Yang |
./. |
15 |
c.1905_1906delAG |
r.(?) |
p.(Glu636Glyfs*51) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.135781059_135781060delCT |
- |
TSC1_000071 |
- |
Y Yang |
./. |
15 |
c.1955_1956delTG |
r.(?) |
p.(Leu652Hisfs*35) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.135781009_135781010delCA |
- |
TSC1_000072 |
- |
Y Yang |
./. |
15 |
c.1960C>T |
r.(?) |
p.(Gln654*) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0015 protein truncation |
g.135781005G>A |
- |
TSC1_000073 |
- |
Y Yang |
./. |
16 |
c.2030_2040delCCCACTTTGGA |
r.(?) |
p.(Thr677Argfs*7) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.135779799_135779809delTCCAAAGTGGG |
- |
TSC1_000074 |
- |
Y Yang |
./. |
16 |
c.2039G>A |
r.(?) |
p.(Gly680Glu) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
g.135779800C>T |
- |
TSC1_000075 |
- |
Y Yang |
./. |
17 |
c.2074C>T |
r.(?) |
p.(Arg692*) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0015 protein truncation |
g.135779172G>A |
- |
TSC1_000076 |
- |
Y Yang |
./. |
17 |
c.2102_2105delAGTT |
r.(?) |
p.(Gln701Hisfs*22) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.135779141_135779144delAACT |
- |
TSC1_000077 |
- |
Y Yang |
./. |
17 |
c.2103_2109dup |
r.(?) |
p.(Tyr704Valfs*4) |
VariO:0142 DNA insertion |
VariO:0023 amphigoric amino acid indel |
g.135779137_135779143dup |
- |
TSC1_000078 |
- |
Y Yang |
./. |
17 |
c.2107_2108delCT |
r.(?) |
p.(Tyr704*) |
VariO:0141 DNA deletion |
VariO:0015 protein truncation |
g.135779138_135779139delAG |
- |
TSC1_000079 |
- |
Y Yang |
./. |
17 |
c.2111_2112delAT |
r.(?) |
p.(Tyr704*) |
VariO:0141 DNA deletion |
VariO:0015 protein truncation |
g.135779134_135779135delAT |
- |
TSC1_000080 |
- |
Y Yang |
./. |
17 |
c.2144delG |
r.(?) |
p.(Asn716Thrfs*8) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.135779102delC |
- |
TSC1_000081 |
- |
Y Yang |
./. |
17 |
c.2173_2176delAAAG |
r.(?) |
p.(Lys725Glnfs*11) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.135779070_135779073delCTTT |
- |
TSC1_000082 |
- |
Y Yang |
./. |
17 |
c.2174_2175insA |
r.(?) |
p.(Ala726Serfs*8) |
VariO:0142 DNA insertion |
VariO:0023 amphigoric amino acid indel |
g.135779071_135779072insT |
- |
TSC1_000083 |
- |
Y Yang |
./. |
17 |
c.2177C>A |
r.(?) |
p.(Ala726Glu) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
g.135779069G>T |
- |
TSC1_000084 |
- |
Y Yang |
./. |
17 |
c.2194C>T |
r.(?) |
p.(His732Tyr) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
g.135779052G>A |
- |
TSC1_000085 |
- |
Y Yang |
./. |
18 |
c.2227C>T |
r.(?) |
p.(Gln743*) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0015 protein truncation |
g.135778156G>A |
- |
TSC1_000086 |
- |
Y Yang |
./. |
18 |
c.2250G>A |
r.(?) |
p.(Trp750*) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0015 protein truncation |
g.135778133C>T |
- |
TSC1_000087 |
- |
Y Yang |
./. |
18 |
c.2283C>G |
r.(?) |
p.(Tyr761*) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0015 protein truncation |
g.135778100G>C |
- |
TSC1_000088 |
- |
Y Yang |
./. |
18 |
c.2293C>T |
r.(?) |
p.(Gln765*) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0015 protein truncation |
g.135778090G>A |
- |
TSC1_000089 |
- |
Y Yang |
./. |
18 |
c.2293C>T |
r.(?) |
p.(Gln765*) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0015 protein truncation |
g.135778090G>A |
Chatterjee S1, Mukherjee SB2, Mendiratta V3, Aneja S2.(2014) |
TSC1_000089 |
- |
Y Yang |
./. |
18 |
c.2298_2320delGCAGCGTGACACTATGGTAACCA |
r.(?) |
p.(Gln767Alafs*11) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.135778063_135778085delTGGTTACCATAGTGTCACGCTGC |
- |
TSC1_000090 |
- |
Y Yang |
./. |
18 |
c.2319delC |
r.(?) |
p.(Lys774Serfs*33) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.135778064delG |
- |
TSC1_000091 |
- |
Y Yang |
./. |
18 |
c.2356C>T |
r.(?) |
p.(Arg786*) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0015 protein truncation |
g.135778027G>A |
- |
TSC1_000092 |
- |
Y Yang |
./. |
18 |
c.2362G>T |
r.(?) |
p.(Glu788*) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0015 protein truncation |
g.135778021C>A |
- |
TSC1_000093 |
- |
Y Yang |
./. |
18 |
c.2374C>T |
r.(?) |
p.(Gln792*) |
- |
- |
g.135778009G>A |
Tyburczy ME et al. (2015) |
TSC1_000120 |
- |
XY Liu |
./. |
18i |
c.2392-35T>C |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
- |
g.135777121A>G |
- |
TSC1_000094 |
- |
Y Yang |
./. |
19 |
c.2411_2424delGGAACATGATTGCG |
r.(?) |
p.(Asn805Alafs*16) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
g.135777054_135777067delCGCAATCATGTTCC |
- |
TSC1_000095 |
- |
Y Yang |