Individual #00000003

Reference de Araujo TK et al (2016) de Araujo TK et al (2016)
Remarks Q37.0 (IDC-10 Version 2016)
Panel size 1
Diseases NSCLP
Owner name Admin


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000004 DNA TaqMan - 145 Admin



Variants

145 entries on 2 pages. Showing entries 1 - 100.
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Chr     

Allele     

AscendingDNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

Allele Count     

Allele Number     

Owner     

Gene     

Effect     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     
1 Both (homozygous) g.23745865C>T dbSNP chr1_000001 1.000 Patients_Q37.0 2 2 Admin - - - - - - -
1 Parent #2 g.23750961C>T dbSNP chr1_000003 0.500 Patients_Q37.0 1 2 Admin - - - - - - -
1 Parent #2 g.23757004C>T dbSNP chr1_000004 0.500 Patients_Q37.0 1 2 Admin - - - - - - -
1 Parent #2 g.75128190G>A dbSNP chr1_000008 0.500 Patients_Q37.0 1 2 Admin - - - - - - -
1 Parent #2 g.75135460C>T dbSNP LHX8_000005 0.500 Patients_Q37.0 1 2 Admin LHX8 ./. - NM_001001933.1:c.19-1143C>T - r.(=) p.(=) -
1 Parent #2 g.75144766C>T dbSNP LHX8_000007 0.500 Patients_Q37.0 1 2 Admin LHX8 ./. - NM_001001933.1:c.714+818C>T - r.(=) p.(=) -
1 Parent #2 g.75149341A>G dbSNP LHX8_000004 0.500 Patients_Q37.0 1 2 Admin LHX8 ./. - NM_001001933.1:c.810+659A>G - r.(=) p.(=) -
1 Parent #2 g.75151588C>T dbSNP LHX8_000001 0.500 Patients_Q37.0 1 2 Admin LHX8 ./. - NM_001001933.1:c.810+2906C>T - r.(=) p.(=) -
1 Parent #2 g.75152288C>A dbSNP LHX8_000002 0.500 Patients_Q37.0 1 2 Admin LHX8 ./. - NM_001001933.1:c.810+3606C>A - r.(=) p.(=) -
1 Parent #2 g.75156931C>T dbSNP LHX8_000003 0.500 Patients_Q37.0 1 2 Admin LHX8 ./. - NM_001001933.1:c.849C>T - r.(=) p.(=) -
1 Parent #2 g.209791530G>T dbSNP IRF6_000006 0.500 Patients_Q37.0 1 2 Admin IRF6 ./. - NM_006147.3:c.668-643C>A - r.(=) p.(=) -
1 Parent #2 g.228004696G>A dbSNP chr1_000006 0.500 Patients_Q37.0 1 2 Admin - - - - - - -
1 Parent #2 g.228022114T>A dbSNP WNT3A_000006 0.500 Patients_Q37.0 1 2 Admin WNT3A ./. - NM_033131.3:c.72-553T>A - r.(=) p.(=) -
1 Both (homozygous) g.228035335A>G dbSNP WNT3A_000003 1.000 Patients_Q37.0 2 2 Admin WNT3A ./. - NM_033131.3:c.313+12427A>G - r.(=) p.(=) -
1 Parent #2 g.228037123A>G dbSNP WNT3A_000004 0.500 Patients_Q37.0 1 2 Admin WNT3A ./. - NM_033131.3:c.314-13533A>G - r.(=) p.(=) -
1 Parent #2 g.228047307A>G dbSNP WNT3A_000005 0.500 Patients_Q37.0 1 2 Admin WNT3A ./. - NM_033131.3:c.314-3349A>G - r.(=) p.(=) -
1 Parent #2 g.228057123G>T dbSNP WNT3A_000007 0.500 Patients_Q37.0 1 2 Admin WNT3A ./. - NM_033131.3:c.580-1863G>T - r.(=) p.(=) -
1 Both (homozygous) g.228059650T>C dbSNP WNT3A_000008 1.000 Patients_Q37.0 2 2 Admin WNT3A ./. - NM_033131.3:c.*185T>C - r.(=) p.(=) -
2 Parent #2 g.202205344C>T dbSNP chr2_000002 0.500 Patients_Q37.0 1 2 Admin - - - - - - -
2 Both (homozygous) g.202214584T>C dbSNP SUMO1_000001 1.000 Patients_Q37.0 2 2 Admin SUMO1 ./. - NM_003352.4:c.88-150A>G - r.(=) p.(=) -
2 Both (homozygous) g.202224545G>A dbSNP SUMO1_000002 1.000 Patients_Q37.0 2 2 Admin SUMO1 ./. - NM_003352.4:c.13-4439C>T - r.(=) p.(=) -
2 Parent #2 g.202230180T>C dbSNP SUMO1_000003 0.500 Patients_Q37.0 1 2 Admin SUMO1 ./. - NM_003352.4:c.12+8260A>G - r.(=) p.(=) -
3 Parent #2 g.55465379C>T dbSNP chr3_000001 0.500 Patients_Q37.0 1 2 Admin - - - - - - -
3 Parent #2 g.55470702A>G dbSNP WNT5A_000003 0.500 Patients_Q37.0 1 2 Admin WNT5A ./. - NM_003392.4:c.685-152T>C - r.(=) p.(=) -
3 Parent #2 g.55477647G>A dbSNP WNT5A_000005 0.500 Patients_Q37.0 1 2 Admin WNT5A ./. - NM_003392.4:c.391+1667C>T - r.(=) p.(=) -
3 Parent #2 g.55486750T>G dbSNP WNT5A_000007 0.500 Patients_Q37.0 1 2 Admin WNT5A ./. - NM_003392.4:c.6+230A>C - r.(=) p.(=) -
4 Parent #2 g.4863419A>G dbSNP MSX1_000002 0.500 Patients_Q37.0 1 2 Admin MSX1 ./. - NM_002448.3:c.*276A>G - r.(=) p.(=) -
4 Parent #2 g.123394883A>G dbSNP chr4_000001 0.500 Patients_Q37.0 1 2 Admin - - - - - - -
4 Parent #2 g.123399769A>G dbSNP SPRY1_000002 0.500 Patients_Q37.0 1 2 Admin SPRY1 ./. - NM_001258038.1:c.-55-1768A>G - r.(=) p.(=) -
4 Parent #2 g.123402583T>C dbSNP SPRY1_000001 0.500 Patients_Q37.0 1 2 Admin SPRY1 ./. - NM_001258038.1:c.*32T>C - r.(=) p.(=) -
5 Parent #2 g.138083805G>T dbSNP chr5_000001 0.500 Patients_Q37.0 1 2 Admin - - - - - - -
5 Parent #2 g.138084036A>G dbSNP WNT8A_000001 0.500 Patients_Q37.0 1 2 Admin WNT8A ./. - NM_058244.3:c.-54A>G - r.(=) p.(=) -
5 Parent #2 g.138084300C>T dbSNP WNT8A_000002 0.500 Patients_Q37.0 1 2 Admin WNT8A ./. - NM_058244.3:c.102+17C>T - r.(=) p.(=) -
5 Parent #2 g.138090758G>A dbSNP WNT8A_000003 0.500 Patients_Q37.0 1 2 Admin WNT8A ./. - NM_058244.3:c.741G>A - r.(=) p.(=) -
5 Parent #2 g.174726034A>G dbSNP MSX2_000003 0.500 Patients_Q37.0 1 2 Admin MSX2 ./. - NM_002449.4:c.379+996A>G - r.(=) p.(=) -
5 Parent #2 g.174728779T>C dbSNP MSX2_000004 0.500 Patients_Q37.0 1 2 Admin MSX2 ./. - NM_002449.4:c.380-380T>C - r.(=) p.(=) -
5 Parent #2 g.174729165T>A dbSNP MSX2_000002 0.500 Patients_Q37.0 1 2 Admin MSX2 ./. - NM_002449.4:c.386T>A - r.(?) p.(Met129Lys) -
5 Parent #2 g.174730093A>G dbSNP MSX2_000001 0.500 Patients_Q37.0 1 2 Admin MSX2 ./. - NM_002449.4:c.*510A>G - r.(=) p.(=) -
6 Parent #2 g.10398749A>T dbSNP TFAP2A_000001 0.500 Patients_Q37.0 1 2 Admin TFAP2A ./. - NM_003220.2:c.1026-44T>A - r.(=) p.(=) -
6 Both (homozygous) g.10414773G>C dbSNP TFAP2A_000005 1.000 Patients_Q37.0 2 2 Admin TFAP2A, TFAP2A-AS1 ./. - NM_003220.2:c.45+168C>G, NR_033910.1:n.143G>C - r.(=), r.(?) p.(=), - -
6 Parent #2 g.83513844G>A dbSNP PRSS35_000008 0.500 Patients_Q37.0 1 2 Admin PRSS35 ./. - NM_153362.2:c.-21+1150G>A - r.(=) p.(=) -
6 Parent #2 g.83515044C>T dbSNP PRSS35_000009 0.500 Patients_Q37.0 1 2 Admin PRSS35 ./. - NM_153362.2:c.-21+2350C>T - r.(=) p.(=) -
6 Both (homozygous) g.83515280G>A dbSNP PRSS35_000001 1.000 Patients_Q37.0 2 2 Admin PRSS35 ./. - NM_153362.2:c.-21+2586G>A - r.(=) p.(=) -
6 Parent #2 g.83517927T>C dbSNP PRSS35_000002 0.500 Patients_Q37.0 1 2 Admin PRSS35 ./. - NM_153362.2:c.-21+5233T>C - r.(=) p.(=) -
6 Parent #2 g.83518056A>G dbSNP PRSS35_000003 0.500 Patients_Q37.0 1 2 Admin PRSS35 ./. - NM_153362.2:c.-21+5362A>G - r.(=) p.(=) -
6 Both (homozygous) g.83520934A>G dbSNP PRSS35_000005 1.000 Patients_Q37.0 2 2 Admin PRSS35 ./. - NM_153362.2:c.-20-2488A>G - r.(=) p.(=) -
6 Both (homozygous) g.83522978A>G dbSNP PRSS35_000006 1.000 Patients_Q37.0 2 2 Admin PRSS35 ./. - NM_153362.2:c.-20-444A>G - r.(=) p.(=) -
6 Both (homozygous) g.83524112G>A dbSNP PRSS35_000007 1.000 Patients_Q37.0 2 2 Admin PRSS35 ./. - NM_153362.2:c.671G>A - r.(?) p.(Arg224Gln) -
6 Both (homozygous) g.83526030G>T dbSNP chr6_000001 1.000 Patients_Q37.0 2 2 Admin - - - - - - -
7 Parent #2 g.27100259G>A dbSNP chr7_000001 0.500 Patients_Q37.0 1 2 Admin - - - - - - -
7 Parent #2 g.27102038C>A dbSNP HOXA2_000001 0.500 Patients_Q37.0 1 2 Admin HOXA2 ./. - NM_006735.3:c.391+72G>T - r.(=) p.(=) -
7 Parent #2 g.155807723T>C dbSNP SHH_000001 0.500 Patients_Q37.0 1 2 Admin SHH ./. - NM_000193.2:c.301-1166A>G - r.(=) p.(=) -
8 Parent #2 g.10724372A>C dbSNP SOX7_000007 0.500 Patients_Q37.0 1 2 Admin SOX7 ./. - NM_031439.3:c.*1366T>G - r.(=) p.(=) -
8 Parent #2 g.10724587C>G dbSNP SOX7_000006 0.500 Patients_Q37.0 1 2 Admin SOX7 ./. - NM_031439.3:c.*1151G>C - r.(=) p.(=) -
8 Parent #2 g.10725996A>G dbSNP SOX7_000005 0.500 Patients_Q37.0 1 2 Admin SOX7 ./. - NM_031439.3:c.909T>C - r.(=) p.(=) -
8 Both (homozygous) g.10726702C>T dbSNP SOX7_000001 1.000 Patients_Q37.0 2 2 Admin SOX7 ./. - NM_031439.3:c.239-36G>A - r.(=) p.(=) -
9 Parent #2 g.95441917C>T dbSNP chr9_000002 0.500 Patients_Q37.0 1 2 Admin - - - - - - -
9 Parent #2 g.97855301T>C dbSNP FOXE1_000002 0.500 Patients_Q37.0 1 2 Admin FOXE1 ./. - NM_004473.3:c.*265T>C - r.(=) p.(=) -
9 Both (homozygous) g.97856378G>A dbSNP FOXE1_000001 1.000 Patients_Q37.0 2 2 Admin FOXE1 ./. - NM_004473.3:c.*1342G>A - r.(=) p.(=) -
10 Parent #2 g.117131062T>C dbSNP VAX1_000001 0.500 Patients_Q37.0 1 2 Admin VAX1 ./. - NM_001112704.1:c.*2946A>G - r.(=) p.(=) -
10 Parent #2 g.117131182G>A dbSNP VAX1_000002 0.500 Patients_Q37.0 1 2 Admin VAX1 ./. - NM_001112704.1:c.*2826C>T - r.(=) p.(=) -
10 Parent #2 g.117133720A>G dbSNP VAX1_000003 0.500 Patients_Q37.0 1 2 Admin VAX1 ./. - NM_001112704.1:c.*288T>C - r.(=) p.(=) -
11 Both (homozygous) g.67632499C>T dbSNP TBX10_000005 1.000 Patients_Q37.0 2 2 Admin TBX10 ./. - NM_005995.4:c.774-87G>A - r.(=) p.(=) -
11 Both (homozygous) g.67634642C>T dbSNP TBX10_000003 1.000 Patients_Q37.0 2 2 Admin TBX10 ./. - NM_005995.4:c.377+174G>A - r.(=) p.(=) -
11 Parent #2 g.67634891T>G dbSNP TBX10_000004 0.500 Patients_Q37.0 1 2 Admin TBX10 ./. - NM_005995.4:c.302A>C - r.(?) p.(Lys101Thr) -
11 Parent #2 g.67638831G>A dbSNP TBX10_000001 0.500 Patients_Q37.0 1 2 Admin TBX10 ./. - NM_005995.4:c.7+635C>T - r.(=) p.(=) -
11 Parent #2 g.76185603C>T dbSNP chr11_000002 0.500 Patients_Q37.0 1 2 Admin - - - - - - -
11 Parent #2 g.76188363G>A dbSNP WNT11_000002 0.500 Patients_Q37.0 1 2 Admin WNT11 ./. - NM_004626.2:c.891-1124C>T - r.(=) p.(=) -
11 Both (homozygous) g.76203043A>G dbSNP WNT11_000008 1.000 Patients_Q37.0 2 2 Admin WNT11 ./. - NM_004626.2:c.83+3282T>C - r.(=) p.(=) -
11 Both (homozygous) g.76205433A>G dbSNP WNT11_000009 1.000 Patients_Q37.0 2 2 Admin WNT11 ./. - NM_004626.2:c.83+892T>C - r.(=) p.(=) -
13 Parent #2 g.80335808C>T dbSNP chr13_000002 0.500 Patients_Q37.0 1 2 Admin - - - - - - -
13 Both (homozygous) g.80336651C>A dbSNP SPRY2_000001 1.000 Patients_Q37.0 2 2 Admin SPRY2 ./. - NM_005842.2:c.*107G>T - r.(=) p.(=) -
13 Parent #2 g.80337390G>A dbSNP SPRY2_000002 0.500 Patients_Q37.0 1 2 Admin SPRY2 ./. - NM_005842.2:c.316C>T - r.(?) p.(Pro106Ser) -
13 Both (homozygous) g.80337966T>C dbSNP SPRY2_000003 1.000 Patients_Q37.0 2 2 Admin SPRY2 ./. - NM_005842.2:c.-51-210A>G - r.(=) p.(=) -
14 Parent #2 g.36668318C>T dbSNP PAX9_000011 0.500 Patients_Q37.0 1 2 Admin PAX9 ./. - NM_006194.3:c.771+1717C>T - r.(=) p.(=) -
14 Parent #2 g.36671576A>G dbSNP PAX9_000003 0.500 Patients_Q37.0 1 2 Admin PAX9 ./. - NM_006194.3:c.772-4622A>G - r.(=) p.(=) -
14 Both (homozygous) g.36673764C>A dbSNP PAX9_000005 1.000 Patients_Q37.0 2 2 Admin PAX9 ./. - NM_006194.3:c.772-2434C>A - r.(=) p.(=) -
14 Both (homozygous) g.36675402A>T dbSNP PAX9_000008 1.000 Patients_Q37.0 2 2 Admin PAX9 ./. - NM_006194.3:c.772-796A>T - r.(=) p.(=) -
14 Both (homozygous) g.36677270C>T dbSNP PAX9_000009 1.000 Patients_Q37.0 2 2 Admin PAX9 ./. - NM_006194.3:c.*818C>T - r.(=) p.(=) -
14 Parent #2 g.53950804A>G dbSNP BMP4_000003 0.500 Patients_Q37.0 1 2 Admin BMP4 ./. - NM_001202.3:c.455T>C - r.(?) p.(Val152Ala) -
14 Both (homozygous) g.75961437T>A dbSNP TGFB3_000011 1.000 Patients_Q37.0 2 2 Admin TGFB3 ./. - NM_003239.3:c.927-361A>T - r.(=) p.(=) -
14 Parent #2 g.75962693C>G dbSNP TGFB3_000012 0.500 Patients_Q37.0 1 2 Admin TGFB3 ./. - NM_003239.3:c.926+623G>C - r.(=) p.(=) -
14 Parent #2 g.75964650T>C dbSNP TGFB3_000009 0.500 Patients_Q37.0 1 2 Admin TGFB3 ./. - NM_003239.3:c.754+938A>G - r.(=) p.(=) -
14 Parent #2 g.75970785T>C dbSNP TGFB3_000002 0.500 Patients_Q37.0 1 2 Admin TGFB3 ./. - NM_003239.3:c.646+341A>G - r.(=) p.(=) -
14 Parent #2 g.75973291C>T dbSNP TGFB3_000003 0.500 Patients_Q37.0 1 2 Admin TGFB3 ./. - NM_003239.3:c.353-1573G>A - r.(=) p.(=) -
14 Parent #2 g.75978424C>T dbSNP TGFB3_000006 0.500 Patients_Q37.0 1 2 Admin TGFB3 ./. - NM_003239.3:c.352+2118G>A - r.(=) p.(=) -
14 Both (homozygous) g.105144945A>G dbSNP JAG2_000006 1.000 Patients_Q37.0 2 2 Admin JAG2 ./. - NM_002226.4:c.3069T>C - r.(=) p.(=) -
14 Both (homozygous) g.105158356T>C dbSNP JAG2_000002 1.000 Patients_Q37.0 2 2 Admin JAG2 ./. - NM_002226.4:c.418-593A>G - r.(=) p.(=) -
14 Parent #2 g.105162423A>G dbSNP JAG2_000003 0.500 Patients_Q37.0 1 2 Admin JAG2 ./. - NM_002226.4:c.418-4660T>C - r.(=) p.(=) -
15 Parent #2 g.32723005G>A dbSNP GREM1_000008 0.500 Patients_Q37.0 1 2 Admin GREM1 ./. - NM_013372.6:c.-2+4844G>A - r.(=) p.(=) -
15 Parent #2 g.32723201A>G dbSNP GREM1_000009 0.500 Patients_Q37.0 1 2 Admin GREM1 ./. - NM_013372.6:c.-2+5040A>G - r.(=) p.(=) -
15 Parent #2 g.32724277G>C dbSNP GREM1_000001 0.500 Patients_Q37.0 1 2 Admin GREM1 ./. - NM_013372.6:c.-2+6116G>C - r.(=) p.(=) -
15 Both (homozygous) g.32728727T>G dbSNP GREM1_000002 1.000 Patients_Q37.0 2 2 Admin GREM1 ./. - NM_013372.6:c.-1-1963T>G - r.(=) p.(=) -
15 Parent #2 g.32731285C>A dbSNP GREM1_000004 0.500 Patients_Q37.0 1 2 Admin GREM1 ./. - NM_013372.6:c.*40C>A - r.(=) p.(=) -
15 Both (homozygous) g.32733426C>T dbSNP GREM1_000005 1.000 Patients_Q37.0 2 2 Admin GREM1 ./. - NM_013372.6:c.*2181C>T - r.(=) p.(=) -
15 Both (homozygous) g.32734978T>A dbSNP chr15_000002 1.000 Patients_Q37.0 2 2 Admin - - - - - - -
15 Parent #2 g.89631558C>T dbSNP KIF7_000001 0.500 Patients_Q37.0 1 2 Admin KIF7 ./. - NM_198525.2:c.3048G>A - r.(=) p.(=) -
17 Parent #2 g.7226655A>G dbSNP DVL2_000005 - - - Admin DVL2 ./. - NM_004422.2:c.1544-16T>C - r.(=) p.(=) -
17 Parent #2 g.7229237C>A dbSNP DVL2_000001 - - - Admin DVL2 ./. - NM_004422.2:c.855G>T - r.(?) p.(Gln285His) -
17 Parent #2 g.7229843G>A dbSNP DVL2_000002 - - - Admin DVL2 ./. - NM_004422.2:c.621C>T - r.(=) p.(=) -
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