View unique variants in gene TAZ

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the transcript reference sequence.

229 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Reported     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
./. 1 - - n.185del - - - - - X Unknown - g.153640061del - - - DNASE1L1_000002 MSCV_0023517 - - ; clinvar; - - - -
./. 1 - - n.186del - - - - - X Unknown - g.153640062del - - - TAZ_000206 MSCV_0005265 - - ; BSF_TAZ; - - - -
./. 2 - - n.217G>C - - - - - X Unknown - g.153640093G>C - - - TAZ_000203 MSCV_0005264 - - ; BSF_TAZ, , clinvar; - - - -
./. 1 - - n.288C>T - - - - - X Unknown - g.153640164C>T - - - TAZ_000205 MSCV_0005263 - - ; BSF_TAZ; - - - -
./. 2 - - n.305del - - - - - X Unknown - g.153640181del - - - TAZ_000182 MSCV_0005258, MSCV_0005262 - - ; BSF_TAZ; - - - -
+?/+?, ./. 2 - 1/10 n.314_315insG - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown ins g.153640190_153640191insG - - - TAZ_000014 MSCV_0003463, MSCV_0005266 - - ; BSF_TAZ; - - - -
./. 1 - - n.317G>T - - - - - X Unknown - g.153640193G>T - - - TAZ_000183 MSCV_0005267 - - ; BSF_TAZ; - - - -
./. 1 - - n.352C>G - - - - - X Unknown - g.153640228C>G - - - TAZ_000184 MSCV_0005268 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 1/10 n.355G>A - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153640231G>A - 4.140 - TAZ_000015 MSCV_0003464, MSCV_0005269 - - ; BSF_TAZ; - - - -
+?/+?, ./. 2 - - n.357_358del - - - - - X Unknown del g.153640233_153640234del - - - TAZ_000016 MSCV_0003465, MSCV_0005270 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 1/10 n.366G>T - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153640242G>T - 3.270 - TAZ_000017 MSCV_0003466, MSCV_0005271 rs112148852 - ; BSF_TAZ; - - - -
./. 1 - - n.373C>T - - - - - X Unknown - g.153640249C>T - - - DNASE1L1_000001 MSCV_0023519 - - ; clinvar; - - - -
+?/+?, ./. 2 - - n.386_388del - - - - - X Unknown del g.153640262_153640264del - - - TAZ_000018 MSCV_0003467, MSCV_0005272 - - ; BSF_TAZ; - - - -
+?/+?, ./. 2 - 1/10 n.387T>A - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153640263T>A - 4.140 - TAZ_000019 MSCV_0003468, MSCV_0005273 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 1/10 n.390G>A - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153640266G>A - 3.270 - TAZ_000020 MSCV_0003469, MSCV_0005274 - - ; BSF_TAZ; - - - -
+?/+?, ./. 2 - - n.413+1G>C p.? - splice_donor_variant,non_coding_transcript_variant - - X Unknown subst g.153640290G>C - 3.880 - TAZ_000021 MSCV_0003470, MSCV_0005275 - - ; BSF_TAZ; - - - -
+?/+?, ./. 2 - - n.413+5G>A p.? - - - - X Unknown subst g.153640294G>A - 3.880 - TAZ_000022 MSCV_0003471, MSCV_0005276 - - ; BSF_TAZ; - - - -
+?/+?, ./. 2 - - n.413+5G>C p.? - - - - X Unknown subst g.153640294G>C - 3.880 - TAZ_000023 MSCV_0003472, MSCV_0005277 - - ; BSF_TAZ; - - - -
+?/+?, ./. 2 - - n.413+6T>C - - - - - X Unknown subst g.153640295T>C - 3.880 - TAZ_000024 MSCV_0003473, MSCV_0005278 - - ; BSF_TAZ; - - - -
./. 1 - - n.413+28C>T - - - - - X Unknown - g.153640317C>T - - - TAZ_000172 MSCV_0005279 - - ; BSF_TAZ; - - - -
+?/+? 1 - - n.414-17C>G - - - - - X Unknown subst g.153640406C>G - -0.452 - TAZ_000009 MSCV_0001560 rs62617809 - ; clinvar; 15793838 - - -
+?/+?, ./. 3 - - n.414-17C>T - - - - - X Unknown subst g.153640406C>T - -0.452 - TAZ_000010 MSCV_0001561, MSCV_0005282 rs62617809 - ; BSF_TAZ, , clinvar; 15793838 - - -
+?/+?, ./. 2 - - n.414-2A>G p.? - splice_acceptor_variant,non_coding_transcript_variant - - X Unknown subst g.153640421A>G - 4.050 - TAZ_000025 MSCV_0003476, MSCV_0005281 - - ; BSF_TAZ; - - - -
+?/+?, ./. 2 - - n.414-1G>C p.? - splice_acceptor_variant,non_coding_transcript_variant - - X Unknown subst g.153640422G>C - 3.180 - TAZ_000026 MSCV_0003477, MSCV_0005280 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 2/10 n.422A>G - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153640431A>G - 4.140 - TAZ_000027 MSCV_0003478, MSCV_0005283 - - ; BSF_TAZ; - - - -
./. 2 - - n.427C>T - - - - - X Unknown - g.153640436C>T - - - TAZ_000173 MSCV_0005284 - - ; BSF_TAZ, , clinvar; - - - -
+?/+?, ./. 2 - - n.428del - - - - - X Unknown del g.153640437del - 4.140 - TAZ_000028 MSCV_0003479, MSCV_0005285 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 2/10 n.431A>C - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153640440A>C - 4.140 - TAZ_000029 MSCV_0003480, MSCV_0005286 - - ; BSF_TAZ; - - - -
+?/+?, ./. 2 - - n.444_456del - - - - - X Unknown del g.153640453_153640465del - - - TAZ_000030 MSCV_0003481, MSCV_0005287 - - ; BSF_TAZ; - - - -
+?/+? 1 - - n.447_448del - - - - - X Unknown del g.153640456_153640457del - - - TAZ_000031 MSCV_0003482 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 2/10 n.453T>C - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153640462T>C - 4.140 - TAZ_000032 MSCV_0003483, MSCV_0005288 - - ; BSF_TAZ; - - - -
+/+, ./. 3 - 2/10 n.457C>G - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153640466C>G - -1.810 - TAZ_000011 MSCV_0001563, MSCV_0005289 rs104894941 - ; BSF_TAZ, , clinvar, , clinvar; ensembl; BSF_TAZ; 15098233;1998334;8630491;6142097 - - -
./. 1 - - n.461dup - - - - - X Unknown - g.153640470dup - - - TAZ_000176 MSCV_0005290 - - ; BSF_TAZ; - - - -
./. 1 - 2/10 n.461_462insCT - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown ins g.153640470_153640471insCT - - - TAZ_000033 MSCV_0003485 - - ; BSF_TAZ; - - - -
./. 1 - - n.462_466del - - - - - X Unknown - g.153640471_153640475del - - - TAZ_000178 MSCV_0005291 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 2/10 n.465T>A - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153640474T>A - 4.140 - TAZ_000034 MSCV_0003486, MSCV_0005292 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 2/10 n.467G>T - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153640476G>T - 4.140 - TAZ_000035 MSCV_0003487, MSCV_0005293 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 2/10 n.474G>T - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153640483G>T - 3.270 - TAZ_000153 MSCV_0003488, MSCV_0005294 - - ; BSF_TAZ; - - - -
+?/+?, ./. 2 - - n.475del - - - - - X Unknown del g.153640484del - -1.230 - TAZ_000154 MSCV_0003489, MSCV_0005295 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 2/10 n.489C>T - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153640498C>T - 3.230 - TAZ_000152 MSCV_0003490, MSCV_0005296 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 2/10 n.511C>G - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153640520C>G - 4.140 - TAZ_000151 MSCV_0003491, MSCV_0005297 - - ; BSF_TAZ; - - - -
+?/+?, ./. 3 - 2/10 n.512C>T - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153640521C>T - 4.140 - TAZ_000137 MSCV_0003492, MSCV_0005298 rs397515738 - ; BSF_TAZ, , clinvar, , clinvar; BSF_TAZ; - - - -
./., ?/? 2 - 2/10 n.515T>C - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153640524T>C - 4.140 - TAZ_000138 MSCV_0003493, MSCV_0005299 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 2/10 n.520C>A - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153640529C>A - 4.140 - TAZ_000139 MSCV_0003494, MSCV_0005300 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 2/10 n.526C>G - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153640535C>G - -1.510 - TAZ_000140 MSCV_0003495, MSCV_0005301 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 2/10 n.527G>C - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153640536G>C - 4.140 - TAZ_000141 MSCV_0003496, MSCV_0005302 - - ; BSF_TAZ; - - - -
./. 1 - - n.531C>G - - - - - X Unknown - g.153640540C>G - - - TAZ_000227 MSCV_0023524 - - ; clinvar; - - - -
+?/+?, ./. 2 - - n.531del - - - - - X Unknown del g.153640540del - 4.140 - TAZ_000142 MSCV_0003497, MSCV_0005303 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 2/10 n.540G>A - - splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153640549G>A - 4.140 - TAZ_000102 MSCV_0003498, MSCV_0005304 - - ; BSF_TAZ; - - - -
+?/+?, ./. 2 - 2/10 n.541G>A - - splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153640550G>A - 3.260 - TAZ_000103 MSCV_0003499, MSCV_0005306 - - ; BSF_TAZ; - - - -
./., ?/? 3 - 2/10 n.542G>A - - splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153640551G>A - 4.050 - TAZ_000104 MSCV_0003500, MSCV_0005307 - - ; BSF_TAZ, , clinvar; - - - -
./., ?/? 2 - - n.542+2T>G p.? - splice_donor_variant,non_coding_transcript_variant - - X Unknown subst g.153640553T>G - 2.830 - TAZ_000105 MSCV_0003501, MSCV_0005305 - - ; BSF_TAZ; - - - -
?/? 1 - - n.543-1G>A p.? - splice_acceptor_variant,non_coding_transcript_variant - - X Unknown subst g.153641543G>A - 5.660 - TAZ_000036 MSCV_0003502 - - ; BSF_TAZ; - - - -
./., ?/? 2 - - n.543-1G>C p.? - splice_acceptor_variant,non_coding_transcript_variant - - X Unknown subst g.153641543G>C - 5.660 - TAZ_000037 MSCV_0003503, MSCV_0005308 - - ; BSF_TAZ; - - - -
./. 1 - - n.543del - - - - - X Unknown - g.153641544del - - - TAZ_000185 MSCV_0005259 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 3/10 n.543G>A - - splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153641544G>A - 5.660 - TAZ_000038 MSCV_0003504, MSCV_0005309 - - ; BSF_TAZ; - - - -
+?/+?, ./. 2 - 3/10 n.543_544insC - - splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown ins g.153641544_153641545insC - - - TAZ_000039 MSCV_0003505, MSCV_0005310 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 3/10 n.549T>C - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153641550T>C - 5.660 - TAZ_000040 MSCV_0003506, MSCV_0005311 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 3/10 n.557C>T - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153641558C>T - 4.580 - TAZ_000041 MSCV_0003507, MSCV_0005312 rs376769286 - ; BSF_TAZ; - - - -
+?/+?, ./. 2 - 3/10 n.568G>A - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153641569G>A - 3.980 - TAZ_000042 MSCV_0003508, MSCV_0005313 - - ; BSF_TAZ; - - - -
+/+, ./. 3 - 3/10 n.584C>A - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153641585C>A - 2.820 - TAZ_000012 MSCV_0001564, MSCV_0005314 rs104894942 - ; BSF_TAZ, , clinvar, , clinvar; ensembl; BSF_TAZ; 12032589 - - -
./., ?/? 2 - 3/10 n.584C>G - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153641585C>G - 2.820 - TAZ_000043 MSCV_0003510, MSCV_0005315 rs104894942 - ; BSF_TAZ; 12032589 - - -
./., ?/? 2 - 3/10 n.584C>T - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153641585C>T - 2.820 - TAZ_000044 MSCV_0003511, MSCV_0005316 rs104894942 - ; BSF_TAZ; 12032589 - - -
+?/+?, ./. 2 - - n.585delinsCT - - - - - X Unknown delins g.153641586delinsCT - 4.880 - TAZ_000046 MSCV_0003512, MSCV_0005318 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 3/10 n.585G>A - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153641586G>A - 4.880 - TAZ_000048 MSCV_0003513, MSCV_0005317 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 3/10 n.585G>T - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153641586G>T - 4.880 - TAZ_000050 MSCV_0003514 - - ; BSF_TAZ, , clinvar; - - - -
./. 1 - - n.588dup - - - - - X Unknown - g.153641589dup - - - TAZ_000157 MSCV_0005324 - - ; BSF_TAZ; - - - -
./. 1 - 3/10 n.588_589insGG - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown ins g.153641589_153641590insGG - - - TAZ_000051 MSCV_0003515 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 3/10 n.589G>C - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153641590G>C - 5.180 - TAZ_000053 MSCV_0003516, MSCV_0005319 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 3/10 n.591G>T - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153641592G>T - 4.300 - TAZ_000055 MSCV_0003517, MSCV_0005320 - - ; BSF_TAZ; - - - -
./. 1 - - n.593G>A - - - - - X Unknown - g.153641594G>A - - - TAZ_000158 MSCV_0005321 - - ; BSF_TAZ; - - - -
./. 1 - - n.618C>T - - - - - X Unknown - g.153641619C>T - - - TAZ_000159 MSCV_0005322 - - ; BSF_TAZ; - - - -
./., ?/? 2 - - n.694+4G>A p.? - - - - X Unknown subst g.153641699G>A - 4.570 - TAZ_000057 MSCV_0003518, MSCV_0005323 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 4/10 n.695G>A - - splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153641819G>A - 5.800 - TAZ_000059 MSCV_0003519, MSCV_0005325 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 4/10 n.712A>T - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153641836A>T - 5.800 - TAZ_000061 MSCV_0003520, MSCV_0005326 - - ; BSF_TAZ; - - - -
+?/+?, ./. 3 - 4/10 n.717T>C - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153641841T>C - 5.800 - TAZ_000013 MSCV_0001565, MSCV_0005327 - - ; BSF_TAZ, , clinvar, , clinvar; BSF_TAZ; - - - -
+/+, ./. 3 - 4/10 n.720T>C - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153641844T>C - 5.800 - TAZ_000001 MSCV_0001566, MSCV_0005328 - - ; BSF_TAZ, , clinvar, , clinvar; BSF_TAZ; - - - -
./., ?/? 2 - 4/10 n.720T>G - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153641844T>G - 5.800 - TAZ_000062 MSCV_0003523, MSCV_0005329 - - ; BSF_TAZ; - - - -
./. 1 - - n.731G>A - - - - - X Unknown - g.153641855G>A - - - TAZ_000160 MSCV_0005330 - - ; BSF_TAZ; - - - -
+?/+?, ./. 2 - - n.737_742del - - - - - X Unknown del g.153641861_153641866del - - - TAZ_000063 MSCV_0003524, MSCV_0005331 - - ; BSF_TAZ; - - - -
+?/+?, ./. 3 - 4/10 n.738T>C - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153641862T>C - 5.800 - TAZ_000002 MSCV_0001567, MSCV_0005332 - - ; BSF_TAZ, , clinvar, , clinvar; BSF_TAZ; - - - -
./. 1 - - n.741C>T - - - - - X Unknown - g.153641865C>T - - - TAZ_000161 MSCV_0005333 - - ; BSF_TAZ; - - - -
+?/+?, ./. 2 - - n.747_749del - - - - - X Unknown del g.153641871_153641873del - - - TAZ_000064 MSCV_0003526, MSCV_0005334 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 4/10 n.756G>C - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153641880G>C - 5.800 - TAZ_000106 MSCV_0003527, MSCV_0005335 - - ; BSF_TAZ; - - - -
./., ?/? 3 - 4/10 n.757G>A - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153641881G>A - 4.930 - TAZ_000107 MSCV_0003528, MSCV_0005336 - - ; BSF_TAZ, , clinvar; - - - -
./., ?/? 2 - 4/10 n.759A>G - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153641883A>G - 5.800 - TAZ_000108 MSCV_0003529, MSCV_0005337 - - ; BSF_TAZ; - - - -
+/+, ./. 3 - 4/10 n.762T>C - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153641886T>C - 5.800 - TAZ_000003 MSCV_0001568, MSCV_0005338 rs104894937 - ; BSF_TAZ, , clinvar, , clinvar; ensembl; BSF_TAZ; 11238270 - - -
./., ?/? 2 - 4/10 n.766T>G - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153641890T>G - 5.800 - TAZ_000109 MSCV_0003531, MSCV_0005339 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 4/10 n.768C>A - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153641892C>A - 4.930 - TAZ_000110 MSCV_0003532, MSCV_0005340 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 4/10 n.777C>T - - non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153641901C>T - 3.920 - TAZ_000111 MSCV_0003533, MSCV_0005341 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 4/10 n.780G>A - - splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153641904G>A - 5.530 - TAZ_000112 MSCV_0003534, MSCV_0005344 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 4/10 n.780G>C - - splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153641904G>C - 5.530 - TAZ_000113 MSCV_0003535, MSCV_0005345 - - ; BSF_TAZ; - - - -
./., ?/? 2 - 4/10 n.780G>T - - splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant - - X Unknown subst g.153641904G>T - 5.530 - TAZ_000114 MSCV_0003536, MSCV_0005346 - - ; BSF_TAZ; - - - -
./. 1 - - n.780+262A>C - - - - - X Unknown - g.153642166A>C - - - TAZ_000192 MSCV_0005342 - - ; BSF_TAZ; - - - -
./. 1 - - n.780+332G>A - - - - - X Unknown - g.153642236G>A - - - TAZ_000193 MSCV_0005343 - - ; BSF_TAZ; - - - -
./. 1 - - n.780+393G>A - - - - - X Unknown - g.153642297G>A - - - TAZ_000194 MSCV_0005349 - - ; BSF_TAZ; - - - -
./. 1 - - n.780+521C>G - - - - - X Unknown - g.153642425C>G - - - TAZ_000196 MSCV_0005348 - - ; BSF_TAZ; - - - -
./., ?/? 2 - - n.780+532A>G - - - - - X Unknown subst g.153642436A>G - -0.683 - TAZ_000115 MSCV_0003537, MSCV_0005347 - - ; BSF_TAZ; - - - -
./. 2 - - n.780+546T>C - - - - - X Unknown - g.153642450T>C - - - TAZ_000197 MSCV_0005350 - - ; BSF_TAZ, , clinvar; - - - -
./. 1 - - n.780+582C>T - - - - - X Unknown - g.153642486C>T - - - TAZ_000198 MSCV_0005351 - - ; BSF_TAZ; - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium