View unique variants in gene DNASE1L1

Information The variants shown are described using the NM_001009934.1 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

Reported     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

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     
+?/+?, ./. 2 c.-282C>G p.(=) - - - - r.(=) - X Unknown subst g.153640422G>C - 3.180 - TAZ_000026 MSCV_0003477, MSCV_0005280 - - ; BSF_TAZ; - - - -
+?/+?, ./. 2 c.-281T>C p.(=) - - - - r.(=) - X Unknown subst g.153640421A>G - 4.050 - TAZ_000025 MSCV_0003476, MSCV_0005281 - - ; BSF_TAZ; - - - -
+?/+?, ./. 3 c.-266G>A - - - - - - - X Unknown subst g.153640406C>T - -0.452 - TAZ_000010 MSCV_0001561, MSCV_0005282 rs62617809 - ; BSF_TAZ, , clinvar; 15793838 - - -
+?/+? 1 c.-266G>C - - - - - - - X Unknown subst g.153640406C>G - -0.452 - TAZ_000009 MSCV_0001560 rs62617809 - ; clinvar; 15793838 - - -
./. 1 c.-177G>A p.(=) - - - - r.(=) - X Unknown - g.153640317C>T - - - TAZ_000172 MSCV_0005279 - - ; BSF_TAZ; - - - -
+?/+?, ./. 2 c.-155A>G p.(=) - - - - r.(=) - X Unknown subst g.153640295T>C - 3.880 - TAZ_000024 MSCV_0003473, MSCV_0005278 - - ; BSF_TAZ; - - - -
+?/+?, ./. 2 c.-154C>G p.(=) - - - - r.(=) - X Unknown subst g.153640294G>C - 3.880 - TAZ_000023 MSCV_0003472, MSCV_0005277 - - ; BSF_TAZ; - - - -
+?/+?, ./. 2 c.-154C>T p.(=) - - - - r.(=) - X Unknown subst g.153640294G>A - 3.880 - TAZ_000022 MSCV_0003471, MSCV_0005276 - - ; BSF_TAZ; - - - -
+?/+?, ./. 2 c.-150C>G p.(=) - - - - r.(=) - X Unknown subst g.153640290G>C - 3.880 - TAZ_000021 MSCV_0003470, MSCV_0005275 - - ; BSF_TAZ; - - - -
./., ?/? 2 c.-126C>T p.(=) - - - - r.(=) - X Unknown subst g.153640266G>A - 3.270 - TAZ_000020 MSCV_0003469, MSCV_0005274 - - ; BSF_TAZ; - - - -
+?/+?, ./. 2 c.-123A>T p.(=) - - - - r.(=) - X Unknown subst g.153640263T>A - 4.140 - TAZ_000019 MSCV_0003468, MSCV_0005273 - - ; BSF_TAZ; - - - -
+?/+?, ./. 2 c.-124_-122del p.(=) - - - - r.(=) - X Unknown del g.153640262_153640264del - - - TAZ_000018 MSCV_0003467, MSCV_0005272 - - ; BSF_TAZ; - - - -
./. 1 c.-109G>A p.(=) - - - - r.(=) - X Unknown - g.153640249C>T - - - DNASE1L1_000001 MSCV_0023519 - - ; clinvar; - - - -
./., ?/? 2 c.-102C>A p.(=) - - - - r.(=) - X Unknown subst g.153640242G>T - 3.270 - TAZ_000017 MSCV_0003466, MSCV_0005271 rs112148852 - ; BSF_TAZ; - - - -
+?/+?, ./. 2 c.-94_-93del p.(=) - - - - r.(=) - X Unknown del g.153640233_153640234del - - - TAZ_000016 MSCV_0003465, MSCV_0005270 - - ; BSF_TAZ; - - - -
./., ?/? 2 c.-91C>T p.(=) - - - - r.(=) - X Unknown subst g.153640231G>A - 4.140 - TAZ_000015 MSCV_0003464, MSCV_0005269 - - ; BSF_TAZ; - - - -
./. 1 c.-88G>C p.(=) - - - - r.(=) - X Unknown - g.153640228C>G - - - TAZ_000184 MSCV_0005268 - - ; BSF_TAZ; - - - -
./. 1 c.-88+35C>A p.(=) - - - - r.(=) - X Unknown - g.153640193G>T - - - TAZ_000183 MSCV_0005267 - - ; BSF_TAZ; - - - -
+?/+?, ./. 2 c.-88+37_-88+38insC p.(=) - - - - r.(=) - X Unknown ins g.153640190_153640191insG - - - TAZ_000014 MSCV_0003463, MSCV_0005266 - - ; BSF_TAZ; - - - -
./. 2 c.-88+47del p.(=) - - - - r.(=) - X Unknown - g.153640181del - - - TAZ_000182 MSCV_0005258, MSCV_0005262 - - ; BSF_TAZ; - - - -
./. 1 c.-88+64G>A p.(=) - - - - r.(=) - X Unknown - g.153640164C>T - - - TAZ_000205 MSCV_0005263 - - ; BSF_TAZ; - - - -
./. 2 c.-88+135C>G p.(=) - - - - r.(=) - X Unknown - g.153640093G>C - - - TAZ_000203 MSCV_0005264 - - ; BSF_TAZ, , clinvar; - - - -
./. 1 c.-88+166del p.(=) - - - - r.(=) - X Unknown - g.153640062del - - - TAZ_000206 MSCV_0005265 - - ; BSF_TAZ; - - - -
./. 1 c.-88+167del p.(=) - - - - r.(=) - X Unknown - g.153640061del - - - DNASE1L1_000002 MSCV_0023517 - - ; clinvar; - - - -
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