Individual #00000038

Gender F
Remarks -
Panel size 1
Diseases Healthy/Control
Owner name LOVD
Database submission license No license selected
Created by LOVD
Date created 2016-08-25 22:21:21 +02:00 (CEST)
Date last edited N/A


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000050 DNA SEQ-NG - - 51481 LOVD



Variants

51481 entries on 515 pages. Showing entries 1 - 100.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

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Frequency     

Variant remarks     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

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GVS function     

PolyPhen prediction     

Position     

Diseases     
1 Both (homozygous) ./. g.69511A>G - OR4F5_000001 - - LOVD OR4F5 - NM_001005484.1:c.421A>G r.(?) p.(Thr141Ala) - missense - 421 -
1 Unknown ./. g.860461G>A - SAMD11_000010 - - LOVD SAMD11 - NM_152486.2:c.-740G>A r.(=) p.(=) - utr-5 - -740 -
1 Unknown ./. g.860504G>A - SAMD11_000011 - - LOVD SAMD11 - NM_152486.2:c.-697G>A r.(=) p.(=) - utr-5 - -697 -
1 Unknown ./. g.860521C>A - SAMD11_000012 - - LOVD SAMD11 - NM_152486.2:c.-680C>A r.(=) p.(=) - utr-5 - -680 -
1 Unknown ./. g.876499A>G - SAMD11_000005 - - LOVD NOC2L, SAMD11 - NM_015658.3:c.*3575T>C, NM_152486.2:c.707-25A>G r.(=) p.(=) 0, 25 utr-3, intron - 5825, 707 -
1 Unknown ./. g.877715C>G - SAMD11_000006 - - LOVD NOC2L - NM_015658.3:c.*2359G>C r.(=) p.(=) - utr-3 - 4609 -
1 Unknown ./. g.877782C>G - NOC2L_000018 - - LOVD NOC2L, SAMD11 - NM_015658.3:c.*2292G>C, NM_152486.2:c.986-8C>G r.(=) p.(=) 0, 8 utr-3, splice - 4542, 986 -
1 Both (homozygous) ./. g.877831T>C - SAMD11_000007 - - LOVD NOC2L, SAMD11 - NM_015658.3:c.*2243A>G, NM_152486.2:c.1027T>C r.(=), r.(?) p.(=), p.(Trp343Arg) - utr-3, missense - 4493, 1027 -
1 Both (homozygous) ./. g.881627G>A - NOC2L_000002 - - LOVD NOC2L, SAMD11 - NM_015658.3:c.1843C>T, NM_152486.2:c.*2094G>A r.(?), r.(=) p.(=) - coding-synonymous, utr-3 - 1843, 4140 -
1 Both (homozygous) ./. g.883625A>G - NOC2L_000004 - - LOVD NOC2L, SAMD11 - NM_015658.3:c.1558-13T>C, NM_152486.2:c.*4092A>G r.(=) p.(=) 13, 0 intron, utr-3 - 1558, 6138 -
1 Unknown ./. g.887560A>C - NOC2L_000008 - - LOVD NOC2L - NM_015658.3:c.1192-41T>G r.(=) p.(=) 41 intron - 1192 -
1 Both (homozygous) ./. g.887801A>G - NOC2L_000009 - - LOVD NOC2L - NM_015658.3:c.1182T>C r.(?) p.(=) - coding-synonymous - 1182 -
1 Both (homozygous) ./. g.888639T>C - NOC2L_000010 - - LOVD NOC2L - NM_015658.3:c.918A>G r.(?) p.(=) - coding-synonymous - 918 -
1 Unknown ./. g.888659T>C - NOC2L_000011 - - LOVD NOC2L - NM_015658.3:c.898A>G r.(?) p.(Ile300Val) - missense - 898 -
1 Both (homozygous) ./. g.889158G>C - NOC2L_000035 - - LOVD NOC2L - NM_015658.3:c.888+4C>G r.spl? p.? 4 splice - 888 -
1 Both (homozygous) ./. g.889159A>C - NOC2L_000014 - - LOVD NOC2L - NM_015658.3:c.888+3T>G r.spl? p.? 3 splice - 888 -
1 Both (homozygous) ./. g.894573G>A - NOC2L_000013 - - LOVD KLHL17, NOC2L - NM_198317.2:c.-1501G>A, NM_015658.3:c.26+22C>T r.(=) p.(=) 0, 22 utr-5, intron - -1501, 26 -
1 Unknown ./. g.897325G>C - KLHL17_000006 - - LOVD KLHL17, NOC2L, PLEKHN1 - NM_198317.2:c.609G>C, NM_015658.3:c.-2705C>G, NM_001160184.1:c.-4587G>C, NM_032129.2:c.-4587G>C r.(?), r.(=) p.(=) - coding-synonymous, utr-5 - 609, -2705, -4587 -
1 Unknown ./. g.897738C>T - KLHL17_000021 - - LOVD KLHL17, NOC2L, PLEKHN1 - NM_198317.2:c.715C>T, NM_015658.3:c.-3118G>A, NM_001160184.1:c.-4174C>T, NM_032129.2:c.-4174C>T r.(?), r.(=) p.(=) - coding-synonymous, utr-5 - 715, -3118, -4174 -
1 Both (homozygous) ./. g.898323T>C - KLHL17_000008 - - LOVD KLHL17, NOC2L, PLEKHN1 - NM_198317.2:c.1042+26T>C, NM_015658.3:c.-3703A>G, NM_001160184.1:c.-3589T>C, NM_032129.2:c.-3589T>C r.(=) p.(=) 26, 0 intron, utr-5 - 1042, -3703, -3589 -
1 Unknown ./. g.898467C>T - KLHL17_000023 - - LOVD KLHL17, NOC2L, PLEKHN1 - NM_198317.2:c.1043-22C>T, NM_015658.3:c.-3847G>A, NM_001160184.1:c.-3445C>T, NM_032129.2:c.-3445C>T r.(=) p.(=) 22, 0 intron, utr-5 - 1043, -3847, -3445 -
1 Both (homozygous) ./. g.899928G>C - KLHL17_000009 - - LOVD KLHL17, PLEKHN1 - NM_198317.2:c.1700+18G>C, NM_001160184.1:c.-1984G>C, NM_032129.2:c.-1984G>C r.(=) p.(=) 18, 0 intron, utr-5 - 1700, -1984 -
1 Both (homozygous) ./. g.899937G>T - KLHL17_000010 - - LOVD KLHL17, PLEKHN1 - NM_198317.2:c.1700+27G>T, NM_001160184.1:c.-1975G>T, NM_032129.2:c.-1975G>T r.(=) p.(=) 27, 0 intron, utr-5 - 1700, -1975 -
1 Unknown ./. g.899938G>C - KLHL17_000001 - - LOVD KLHL17, PLEKHN1 - NM_198317.2:c.1700+28G>C, NM_001160184.1:c.-1974G>C, NM_032129.2:c.-1974G>C r.(=) p.(=) 28, 0 intron, utr-5 - 1700, -1974 -
1 Both (homozygous) ./. g.899942G>A - KLHL17_000002 - - LOVD KLHL17, PLEKHN1 - NM_198317.2:c.1700+32G>A, NM_001160184.1:c.-1970G>A, NM_032129.2:c.-1970G>A r.(=) p.(=) 32, 0 intron, utr-5 - 1700, -1970 -
1 Unknown ./. g.899949C>T - KLHL17_000027 - - LOVD KLHL17, PLEKHN1 - NM_198317.2:c.1700+39C>T, NM_001160184.1:c.-1963C>T, NM_032129.2:c.-1963C>T r.(=) p.(=) 39, 0 intron, utr-5 - 1700, -1963 -
1 Both (homozygous) ./. g.899989A>C - PLEKHN1_000006 - - LOVD PLEKHN1 - NM_001160184.1:c.-1923A>C, NM_032129.2:c.-1923A>C r.(=) p.(=) - utr-5 - -1923 -
1 Unknown ./. g.906272A>C - PLEKHN1_000007 - - LOVD PLEKHN1 - NM_001160184.1:c.498A>C, NM_032129.2:c.498A>C r.(?) p.(=) - coding-synonymous - 498 -
1 Unknown ./. g.907799T>C - PLEKHN1_000010 - - LOVD PLEKHN1 - NM_001160184.1:c.1033T>C, NM_032129.2:c.997T>C r.(?) p.(Ser345Pro), p.(Ser333Pro) - missense - 1033, 997 -
1 Unknown ./. g.908414C>T - PLEKHN1_000015 - - LOVD PLEKHN1 - NM_001160184.1:c.1188+24C>T, NM_032129.2:c.1152+24C>T r.(=) p.(=) 24 intron - 1188, 1152 -
1 Both (homozygous) ./. g.909768A>G - PLEKHN1_000004 - - LOVD PLEKHN1 - NM_001160184.1:c.1597+24A>G, NM_032129.2:c.1702+24A>G r.(=) p.(=) 24 intron - 1597, 1702 -
1 Both (homozygous) ./. g.911595A>G - PLEKHN1_000024 - - LOVD PLEKHN1 - NM_001160184.1:c.*1640A>G, NM_032129.2:c.*1640A>G r.(=) p.(=) - utr-3 - 3371, 3476 -
1 Both (homozygous) ./. g.912049T>C - PLEKHN1_000026 - - LOVD PLEKHN1 - NM_001160184.1:c.*2094T>C, NM_032129.2:c.*2094T>C r.(=) p.(=) - utr-3 - 3825, 3930 -
1 Unknown ./. g.912103G>A - PLEKHN1_000027 - - LOVD PLEKHN1 - NM_001160184.1:c.*2148G>A, NM_032129.2:c.*2148G>A r.(=) p.(=) - utr-3 - 3879, 3984 -
1 Unknown ./. g.914333C>G - PLEKHN1_000028 - - LOVD PLEKHN1 - NM_001160184.1:c.*4378C>G, NM_032129.2:c.*4378C>G r.(=) p.(=) - utr-3 - 6109, 6214 -
1 Both (homozygous) ./. g.914876T>C - PLEKHN1_000031 - - LOVD PLEKHN1 - NM_001160184.1:c.*4921T>C, NM_032129.2:c.*4921T>C r.(=) p.(=) - utr-3 - 6652, 6757 -
1 Unknown ./. g.914940T>C - PLEKHN1_000032 - - LOVD PLEKHN1 - NM_001160184.1:c.*4985T>C, NM_032129.2:c.*4985T>C r.(=) p.(=) - utr-3 - 6716, 6821 -
1 Both (homozygous) ./. g.915227A>G - PLEKHN1_000033 - - LOVD PLEKHN1 - NM_001160184.1:c.*5272A>G, NM_032129.2:c.*5272A>G r.(=) p.(=) - utr-3 - 7003, 7108 -
1 Both (homozygous) ./. g.948846_948847insA - ISG15_000001 - - LOVD ISG15 - NM_005101.3:c.-108_-107insA r.(=) p.(=) - utr-5 - -108 immunodeficiency, type 38 (IMD-38)
1 Both (homozygous) ./. g.948870C>G - ISG15_000002 - - LOVD ISG15 - NM_005101.3:c.-84C>G r.(=) p.(=) - utr-5 - -84 immunodeficiency, type 38 (IMD-38)
1 Both (homozygous) ./. g.948921T>C - ISG15_000003 - - LOVD ISG15 - NM_005101.3:c.-33T>C r.(=) p.(=) - utr-5 - -33 immunodeficiency, type 38 (IMD-38)
1 Both (homozygous) ./. g.949654A>G - ISG15_000005 - - LOVD ISG15 - NM_005101.3:c.294A>G r.(?) p.(=) - coding-synonymous - 294 immunodeficiency, type 38 (IMD-38)
1 Both (homozygous) ./. g.949925C>T - ISG15_000011 - - LOVD ISG15 - NM_005101.3:c.*67C>T r.(=) p.(=) - utr-3 - 565 immunodeficiency, type 38 (IMD-38)
1 Both (homozygous) ./. g.977330T>C - AGRN_000054 - - LOVD AGRN - NM_198576.3:c.1178-6T>C r.(=) p.(=) 6 splice - 1178 myasthenic syndrome, congenital, type 8, with pre- and postsynaptic defects (CMS-8)
1 Both (homozygous) ./. g.977570G>A - AGRN_000055 - - LOVD AGRN - NM_198576.3:c.1384+28G>A r.(=) p.(=) 28 intron - 1384 myasthenic syndrome, congenital, type 8, with pre- and postsynaptic defects (CMS-8)
1 Unknown ./. g.978601del - AGRN_000073 - - LOVD AGRN - NM_198576.3:c.1385-18delC r.(=) p.(=) 18 intron - 1385 myasthenic syndrome, congenital, type 8, with pre- and postsynaptic defects (CMS-8)
1 Unknown ./. g.978604_978605del - AGRN_000074 - - LOVD AGRN - NM_198576.3:c.1385-15_1385-14del r.(=) p.(=) 14 intron - 1385 myasthenic syndrome, congenital, type 8, with pre- and postsynaptic defects (CMS-8)
1 Both (homozygous) ./. g.981087A>G - AGRN_000057 - - LOVD AGRN - NM_198576.3:c.2537-26A>G r.(=) p.(=) 26 intron - 2537 myasthenic syndrome, congenital, type 8, with pre- and postsynaptic defects (CMS-8)
1 Both (homozygous) ./. g.981931A>G - AGRN_000058 - - LOVD AGRN - NM_198576.3:c.3066A>G r.(?) p.(=) - coding-synonymous - 3066 myasthenic syndrome, congenital, type 8, with pre- and postsynaptic defects (CMS-8)
1 Both (homozygous) ./. g.982941T>C - AGRN_000059 - - LOVD AGRN - NM_198576.3:c.3517-12T>C r.(=) p.(=) 12 intron - 3517 myasthenic syndrome, congenital, type 8, with pre- and postsynaptic defects (CMS-8)
1 Both (homozygous) ./. g.982994T>C - AGRN_000060 - - LOVD AGRN - NM_198576.3:c.3558T>C r.(?) p.(=) - coding-synonymous - 3558 myasthenic syndrome, congenital, type 8, with pre- and postsynaptic defects (CMS-8)
1 Unknown ./. g.983770G>A - AGRN_000090 - - LOVD AGRN - NM_198576.3:c.4105+25G>A r.(=) p.(=) 25 intron - 4105 myasthenic syndrome, congenital, type 8, with pre- and postsynaptic defects (CMS-8)
1 Unknown ./. g.984847G>C - AGRN_000095 - - LOVD AGRN - NM_198576.3:c.4514+16G>C r.(=) p.(=) 16 intron - 4514 myasthenic syndrome, congenital, type 8, with pre- and postsynaptic defects (CMS-8)
1 Unknown ./. g.985239C>T - AGRN_000100 - - LOVD AGRN - NM_198576.3:c.4745-44C>T r.(=) p.(=) 44 intron - 4745 myasthenic syndrome, congenital, type 8, with pre- and postsynaptic defects (CMS-8)
1 Unknown ./. g.985449G>A - AGRN_000104 - - LOVD AGRN - NM_198576.3:c.4879+32G>A r.(=) p.(=) 32 intron - 4879 myasthenic syndrome, congenital, type 8, with pre- and postsynaptic defects (CMS-8)
1 Unknown ./. g.985460T>C - AGRN_000105 - - LOVD AGRN - NM_198576.3:c.4879+43T>C r.(=) p.(=) 43 intron - 4879 myasthenic syndrome, congenital, type 8, with pre- and postsynaptic defects (CMS-8)
1 Unknown ./. g.986737T>C - AGRN_000113 - - LOVD AGRN - NM_198576.3:c.5358T>C r.(?) p.(=) - coding-synonymous - 5358 myasthenic syndrome, congenital, type 8, with pre- and postsynaptic defects (CMS-8)
1 Both (homozygous) ./. g.987200C>T - AGRN_000062 - - LOVD AGRN - NM_198576.3:c.5651+5C>T r.spl? p.? 5 splice - 5651 myasthenic syndrome, congenital, type 8, with pre- and postsynaptic defects (CMS-8)
1 Unknown ./. g.1002387A>G - RNF223_000001 - - LOVD RNF223 - NM_001205252.1:c.*4810T>C r.(=) p.(=) - utr-3 - 5560 -
1 Unknown ./. g.1002434C>T - RNF223_000002 - - LOVD RNF223 - NM_001205252.1:c.*4763G>A r.(=) p.(=) - utr-3 - 5513 -
1 Both (homozygous) ./. g.1002932C>G - RNF223_000005 - - LOVD RNF223 - NM_001205252.1:c.*4265G>C r.(=) p.(=) - utr-3 - 5015 -
1 Unknown ./. g.1004331C>T - RNF223_000009 - - LOVD RNF223 - NM_001205252.1:c.*2866G>A r.(=) p.(=) - utr-3 - 3616 -
1 Unknown ./. g.1004389_1004390insC - RNF223_000010 - - LOVD RNF223 - NM_001205252.1:c.*2807_*2808insG r.(=) p.(=) - utr-3 - 3557 -
1 Both (homozygous) ./. g.1004427G>A - RNF223_000012 - - LOVD RNF223 - NM_001205252.1:c.*2770C>T r.(=) p.(=) - utr-3 - 3520 -
1 Unknown ./. g.1021415A>G - C1orf159_000004 - - LOVD C1orf159 - NM_017891.4:c.311-23T>C r.(=) p.(=) 23 intron - 311 -
1 Unknown ./. g.1111709A>G - TTLL10_000014 - - LOVD TTLL10 - NM_001130045.1:c.-28+1840A>G, NM_153254.2:c.-3545A>G r.(=) p.(=) 1840, 0 intron, utr-5 - -28, -3545 -
1 Unknown ./. g.1111743C>G - TTLL10_000015 - - LOVD TTLL10 - NM_001130045.1:c.-28+1874C>G, NM_153254.2:c.-3511C>G r.(=) p.(=) 1874, 0 intron, utr-5 - -28, -3511 -
1 Unknown ./. g.1114668G>A - TTLL10_000007 - - LOVD TTLL10 - NM_001130045.1:c.73G>A, NM_153254.2:c.-586G>A r.(?), r.(=) p.(Gly25Ser), p.(=) - missense, utr-5 - 73, -586 -
1 Unknown ./. g.1118212T>C - TTLL10_000001 - - LOVD TTLL10 - NM_001130045.1:c.917-44T>C, NM_153254.2:c.698-44T>C r.(=) p.(=) 44 intron - 917, 698 -
1 Unknown ./. g.1120307G>A - TTLL10_000003 - - LOVD TTLL10 - NM_001130045.1:c.1261-42G>A, NM_153254.2:c.1042-42G>A r.(=) p.(=) 42 intron - 1261, 1042 -
1 Unknown ./. g.1132785C>T - TTLL10_000032 - - LOVD TTLL10 - NM_001130045.1:c.1613-33C>T r.(=) p.(=) 33 intron - 1613 -
1 Unknown ./. g.1133077A>G - TTLL10_000035 - - LOVD TTLL10 - NM_001130045.1:c.1872A>G r.(?) p.(=) - coding-synonymous - 1872 -
1 Unknown ./. g.1133273T>C - TTLL10_000037 - - LOVD TTLL10 - NM_001130045.1:c.*46T>C r.(=) p.(=) - utr-3 - 2068 -
1 Unknown ./. g.1146965G>A - TNFRSF18_000011 - - LOVD TNFRSF18, TNFRSF4 - NM_004195.2:c.-5014C>T, NM_148901.1:c.-5014C>T, NM_148902.1:c.-5014C>T, NM_003327.3:c.804C>T r.(=), r.(?) p.(=) - utr-5, coding-synonymous - -5014, 804 immunodeficiency, type 16 (IMD-16)
1 Unknown ./. g.1147243A>C - TNFRSF4_000009 - - LOVD TNFRSF4 - NM_003327.3:c.635-31T>G r.(=) p.(=) 31 intron - 635 immunodeficiency, type 16 (IMD-16)
1 Unknown ./. g.1147422C>T - TNFRSF4_000007 - - LOVD SDF4, TNFRSF4 - NM_016176.3:c.*5470G>A, NM_016547.2:c.*5628G>A, NM_003327.3:c.534G>A r.(=), r.(?) p.(=) - utr-3, coding-synonymous - 6559, 6675, 534 immunodeficiency, type 16 (IMD-16)
1 Unknown ./. g.1148725G>A - SDF4_000020 - - LOVD SDF4 - NM_016176.3:c.*4167C>T, NM_016547.2:c.*4325C>T r.(=) p.(=) - utr-3 - 5256, 5372 -
1 Both (homozygous) ./. g.1158631A>G - SDF4_000018 - - LOVD SDF4 - NM_016176.3:c.570T>C, NM_016547.2:c.570T>C r.(?) p.(=) - coding-synonymous - 570 -
1 Unknown ./. g.1163811_1163812insGACA - SDF4_000002 - - LOVD B3GALT6, SDF4 - NM_080605.3:c.-3848_-3847insGACA, NM_016176.3:c.326+36_326+37insTGTC, NM_016547.2:c.326+36_326+37insTGTC r.(=) p.(=) 0, 36 utr-5, intron - -3848, 326 dysplasia, spondyloepimetaphyseal, with joint laxity (SEMDJL-1),
Ehlers-Danlos syndrome, progeroid type, 2
1 Unknown ./. g.1168180G>C - SDF4_000022 - - LOVD B3GALT6, SDF4 - NM_080605.3:c.522G>C, NM_016176.3:c.-1062C>G, NM_016547.2:c.-1062C>G r.(?), r.(=) p.(Glu174Asp), p.(=) - missense, utr-5 - 522, -1062 dysplasia, spondyloepimetaphyseal, with joint laxity (SEMDJL-1),
Ehlers-Danlos syndrome, progeroid type, 2
1 Unknown ./. g.1179555G>C - FAM132A_000009 - - LOVD FAM132A - NM_001014980.2:c.379+16C>G r.(=) p.(=) 16 intron - 379 -
1 Unknown ./. g.1190880C>G - UBE2J2_000005 - - LOVD UBE2J2 - NM_058167.2:c.496-13G>C, NM_194315.1:c.544-13G>C, NM_194457.1:c.340-13G>C, NM_194458.1:c.340-13G>C r.(=) p.(=) 13 intron - 496, 544, 340 -
1 Unknown ./. g.1220954G>A - SCNN1D_000004 - - LOVD SCNN1D - NM_001130413.3:c.468G>A r.(?) p.(=) - coding-synonymous - 468 -
1 Unknown ./. g.1222267G>C - SCNN1D_000008 - - LOVD SCNN1D - NM_001130413.3:c.1031G>C r.(?) p.(Arg344Pro) - missense - 1031 -
1 Unknown ./. g.1223385G>C - ACAP3_000006 - - LOVD ACAP3, SCNN1D - NM_030649.2:c.*5559C>G, NM_001130413.3:c.1630G>C r.(=), r.(?) p.(=), p.(Glu544Gln) - utr-3, missense - 8064, 1630 -
1 Unknown ./. g.1225579G>C - ACAP3_000009 - - LOVD ACAP3 - NM_030649.2:c.*3365C>G r.(=) p.(=) - utr-3 - 5870 -
1 Unknown ./. g.1225641C>A - ACAP3_000011 - - LOVD ACAP3, SCNN1D - NM_030649.2:c.*3303G>T, NM_001130413.3:c.1663-10C>A r.(=) p.(=) 0, 10 utr-3, intron - 5808, 1663 -
1 Unknown ./. g.1225959C>G - ACAP3_000015 - - LOVD ACAP3, SCNN1D - NM_030649.2:c.*2985G>C, NM_001130413.3:c.1859+24C>G r.(=) p.(=) 0, 24 utr-3, intron - 5490, 1859 -
1 Both (homozygous) ./. g.1226221A>G - ACAP3_000020 - - LOVD ACAP3 - NM_030649.2:c.*2723T>C r.(=) p.(=) - utr-3 - 5228 -
1 Unknown ./. g.1226348C>G - ACAP3_000025 - - LOVD ACAP3, SCNN1D - NM_030649.2:c.*2596G>C, NM_001130413.3:c.1976+15C>G r.(=) p.(=) 0, 15 utr-3, intron - 5101, 1976 -
1 Unknown ./. g.1226757G>A - ACAP3_000029 - - LOVD ACAP3, SCNN1D - NM_030649.2:c.*2187C>T, NM_001130413.3:c.2176G>A r.(=), r.(?) p.(=), p.(Gly726Ser) - utr-3, missense - 4692, 2176 -
1 Unknown ./. g.1226889G>A - ACAP3_000031 - - LOVD ACAP3, SCNN1D - NM_030649.2:c.*2055C>T, NM_001130413.3:c.2308G>A r.(=), r.(?) p.(=), p.(Gly770Arg) - utr-3, missense - 4560, 2308 -
1 Unknown ./. g.1229144G>T - SCNN1D_000012 - - LOVD SCNN1D - NM_001130413.3:c.*2154G>T r.(=) p.(=) - utr-3 - 4563 -
1 Unknown ./. g.1233941T>C - ACAP3_000043 - - LOVD ACAP3 - NM_030649.2:c.863+6A>G r.(=) p.(=) 6 splice - 863 -
1 Unknown ./. g.1238492G>A - ACAP3_000002 - - LOVD ACAP3 - NM_030649.2:c.225+50C>T r.(=) p.(=) 50 intron - 225 -
1 Both (homozygous) ./. g.1246004A>G - PUSL1_000002 - - LOVD ACAP3, CPSF3L, PUSL1 - NM_030649.2:c.-2809T>C, NM_001256456.1:c.*1235T>C, NM_001256460.1:c.*1235T>C, NM_001256462.1:c.*1235T>C, NM_001256463.1:c.*1235T>C, NM_017871.5:c.*1235T>C, NM_153339.1:c.645-10A>G r.(=) p.(=) 0, 10 utr-5, utr-3, intron - -2809, 3056, 2951, 2744, 2735, 3038, 645 -
1 Unknown ./. g.1249187G>A - CPSF3L_000003 - - LOVD CPSF3L, PUSL1 - NM_001256456.1:c.900C>T, NM_001256460.1:c.795C>T, NM_001256462.1:c.588C>T, NM_001256463.1:c.579C>T, NM_017871.5:c.882C>T, NM_153339.1:c.*2428G>A r.(?), r.(=) p.(=) - coding-synonymous, utr-3 - 900, 795, 588, 579, 882, 3340 -
1 Both (homozygous) ./. g.1254841C>G - CPSF3L_000007 - - LOVD CPSF3L - NM_001256456.1:c.282G>C, NM_001256460.1:c.177G>C, NM_017871.5:c.264G>C r.(?) p.(=) - coding-synonymous - 282, 177, 264 -
1 Both (homozygous) ./. g.1260168C>A - GLTPD1_000001 - - LOVD CPSF3L - NM_001256456.1:c.-635G>T, NM_001256460.1:c.-374G>T, NM_001256462.1:c.-180G>T, NM_001256463.1:c.-180G>T, NM_017871.5:c.-180G>T r.(=) p.(=) - utr-5 - -635, -374, -180 -
1 Both (homozygous) ./. g.1262591C>T - GLTPD1_000002 - - LOVD CPSF3L, TAS1R3 - NM_001256456.1:c.-3058G>A, NM_001256460.1:c.-2797G>A, NM_001256462.1:c.-2603G>A, NM_001256463.1:c.-2603G>A, NM_017871.5:c.-2603G>A, NM_152228.1:c.-4135C>T r.(=) p.(=) - utr-5 - -3058, -2797, -2603, -4135 -
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