Individual #00000058

Gender F
Remarks -
Panel size 1
Diseases Healthy/Control
Owner name LOVD
Database submission license No license selected
Created by LOVD
Date created 2016-08-30 07:40:59 +02:00 (CEST)
Date last edited 2016-09-20 12:32:41 +02:00 (CEST)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000070 DNA SEQ-NG - - 50954 LOVD



Variants

50954 entries on 510 pages. Showing entries 1 - 100.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Splice distance     

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.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.865694C>T - SAMD11_000013 - - LOVD SAMD11 - NM_152486.2:c.232C>T r.(?) p.(His78Tyr) - missense - 232 -
1 Both (homozygous) ./. 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 Both (homozygous) ./. g.877715C>G - SAMD11_000006 - - LOVD NOC2L - NM_015658.3:c.*2359G>C r.(=) p.(=) - utr-3 - 4609 -
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 Unknown ./. g.879317C>T - NOC2L_000023 - - LOVD NOC2L, SAMD11 - NM_015658.3:c.*757G>A, NM_152486.2:c.1830C>T r.(=), r.(?) p.(=) - utr-3, coding-synonymous - 3007, 1830 -
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 Unknown ./. g.888639T>C - NOC2L_000010 - - LOVD NOC2L - NM_015658.3:c.918A>G r.(?) p.(=) - coding-synonymous - 918 -
1 Both (homozygous) ./. 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 Unknown ./. g.889159A>C - NOC2L_000014 - - LOVD NOC2L - NM_015658.3:c.888+3T>G r.spl? p.? 3 splice - 888 -
1 Unknown ./. g.891397C>T - KLHL17_000012 - - LOVD KLHL17, NOC2L - NM_198317.2:c.-4677C>T, NM_015658.3:c.608-4G>A r.(=), r.spl? p.(=), p.? 0, 4 utr-5, splice - -4677, 608 -
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.896163A>C - KLHL17_000017 - - LOVD KLHL17, NOC2L - NM_198317.2:c.90A>C, NM_015658.3:c.-1543T>G r.(?), r.(=) p.(=) - coding-synonymous, utr-5 - 90, -1543 -
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 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 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 Unknown ./. 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 Both (homozygous) ./. 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 Unknown ./. 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.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.902005C>T - KLHL17_000031 - - LOVD KLHL17, PLEKHN1 - NM_198317.2:c.*1434C>T, NM_001160184.1:c.83+11C>T, NM_032129.2:c.83+11C>T r.(=) p.(=) 0, 11 utr-3, intron - 3363, 83 -
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.909053G>A - PLEKHN1_000018 - - LOVD PLEKHN1 - NM_001160184.1:c.1329+33G>A, NM_032129.2:c.1434+33G>A r.(=) p.(=) 33 intron - 1329, 1434 -
1 Unknown ./. g.909238G>C - PLEKHN1_000002 - - LOVD PLEKHN1 - NM_001160184.1:c.1355G>C, NM_032129.2:c.1460G>C r.(?) p.(Arg452Pro), p.(Arg487Pro) - missense - 1355, 1460 -
1 Unknown ./. g.909309T>C - PLEKHN1_000003 - - LOVD PLEKHN1 - NM_001160184.1:c.1426T>C, NM_032129.2:c.1531T>C r.(?) p.(Ser476Pro), p.(Ser511Pro) - missense - 1426, 1531 -
1 Unknown ./. g.909363A>C - PLEKHN1_000022 - - LOVD PLEKHN1 - NM_001160184.1:c.1480A>C, NM_032129.2:c.1585A>C r.(?) p.(=) - coding-synonymous - 1480, 1585 -
1 Unknown ./. g.909419C>T - PLEKHN1_000023 - - LOVD PLEKHN1 - NM_001160184.1:c.1536C>T, NM_032129.2:c.1641C>T r.(?) p.(=) - coding-synonymous - 1536, 1641 -
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 Unknown ./. 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 Unknown ./. g.935222C>A - HES4_000001 - - LOVD HES4 - NM_001142467.1:c.132G>T, NM_021170.3:c.108+24G>T r.(?), r.(=) p.(Arg44Ser), p.(=) 0, 24 missense, intron - 132, 108 -
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 Unknown ./. 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.976514C>A - AGRN_000001 - - LOVD AGRN - NM_198576.3:c.728-39C>A r.(=) p.(=) 39 intron - 728 myasthenic syndrome, congenital, type 8, with pre- and postsynaptic defects (CMS-8)
1 Unknown ./. 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 Unknown ./. 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 Both (homozygous) ./. 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 Both (homozygous) ./. g.984302T>C - AGRN_000092 - - LOVD AGRN - NM_198576.3:c.4161T>C r.(?) p.(=) - coding-synonymous - 4161 myasthenic syndrome, congenital, type 8, with pre- and postsynaptic defects (CMS-8)
1 Unknown ./. g.985266C>T - AGRN_000102 - - LOVD AGRN - NM_198576.3:c.4745-17C>T r.(=) p.(=) 17 intron - 4745 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.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 Both (homozygous) ./. g.990280C>T - AGRN_000119 - - LOVD AGRN - NM_198576.3:c.6057C>T r.(?) p.(=) - coding-synonymous - 6057 myasthenic syndrome, congenital, type 8, with pre- and postsynaptic defects (CMS-8)
1 Both (homozygous) ./. g.1002932C>G - RNF223_000005 - - LOVD RNF223 - NM_001205252.1:c.*4265G>C r.(=) p.(=) - utr-3 - 5015 -
1 Unknown ./. g.1003053C>T - RNF223_000006 - - LOVD RNF223 - NM_001205252.1:c.*4144G>A r.(=) p.(=) - utr-3 - 4894 -
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.1017587C>T - C1orf159_000013 - - LOVD C1orf159 - NM_017891.4:c.*686G>A r.(=) p.(=) - utr-3 - 1283 -
1 Unknown ./. g.1017598A>G - C1orf159_000014 - - LOVD C1orf159 - NM_017891.4:c.*675T>C r.(=) p.(=) - utr-3 - 1272 -
1 Both (homozygous) ./. g.1021415A>G - C1orf159_000004 - - LOVD C1orf159 - NM_017891.4:c.311-23T>C r.(=) p.(=) 23 intron - 311 -
1 Unknown ./. g.1110987_1110988insC - TTLL10_000005 - - LOVD TTLL10 - NM_001130045.1:c.-28+1118_-28+1119insC, NM_153254.2:c.-4267_-4266insC r.(=) p.(=) 1118, 0 intron, utr-5 - -28, -4267 -
1 Unknown ./. g.1111245T>C - TTLL10_000012 - - LOVD TTLL10 - NM_001130045.1:c.-28+1376T>C, NM_153254.2:c.-4009T>C r.(=) p.(=) 1376, 0 intron, utr-5 - -28, -4009 -
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 Both (homozygous) ./. 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.1118275C>T - TTLL10_000002 - - LOVD TTLL10 - NM_001130045.1:c.936C>T, NM_153254.2:c.717C>T r.(?) p.(=) - coding-synonymous - 936, 717 -
1 Both (homozygous) ./. 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 Both (homozygous) ./. g.1132938G>A - TTLL10_000033 - - LOVD TTLL10 - NM_001130045.1:c.1733G>A r.(?) p.(Gly578Asp) - missense - 1733 -
1 Unknown ./. g.1133077A>G - TTLL10_000035 - - LOVD TTLL10 - NM_001130045.1:c.1872A>G r.(?) p.(=) - coding-synonymous - 1872 -
1 Both (homozygous) ./. g.1133273T>C - TTLL10_000037 - - LOVD TTLL10 - NM_001130045.1:c.*46T>C r.(=) p.(=) - utr-3 - 2068 -
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 Both (homozygous) ./. 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.1148100G>C - TNFRSF4_000012 - - LOVD SDF4, TNFRSF4 - NM_016176.3:c.*4792C>G, NM_016547.2:c.*4950C>G, NM_003327.3:c.371-16C>G r.(=) p.(=) 0, 16 utr-3, intron - 5881, 5997, 371 immunodeficiency, type 16 (IMD-16)
1 Unknown ./. g.1153113G>A - TNFRSF4_000018 - - LOVD SDF4, TNFRSF4 - NM_016176.3:c.913-45C>T, NM_016547.2:c.984C>T, NM_003327.3:c.-3606C>T r.(?), r.(=) p.(=) 45, 0 intron, coding-synonymous, utr-5 - 913, 984, -3606 immunodeficiency, type 16 (IMD-16)
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.1203271G>A - UBE2J2_000010 - - LOVD UBE2J2 - NM_058167.2:c.102C>T, NM_194315.1:c.102C>T, NM_194457.1:c.-25-4505C>T, NM_194458.1:c.-184C>T r.(?), r.(=) p.(=) 0, 4505 coding-synonymous, intron, utr-5 - 102, -25, -184 -
1 Unknown ./. g.1220954G>A - SCNN1D_000004 - - LOVD SCNN1D - NM_001130413.3:c.468G>A r.(?) p.(=) - coding-synonymous - 468 -
1 Unknown ./. g.1220979C>T - SCNN1D_000005 - - LOVD SCNN1D - NM_001130413.3:c.493C>T r.(?) p.(Pro165Ser) - missense - 493 -
1 Unknown ./. g.1222267G>C - SCNN1D_000008 - - LOVD SCNN1D - NM_001130413.3:c.1031G>C r.(?) p.(Arg344Pro) - missense - 1031 -
1 Unknown ./. g.1222695G>C - SCNN1D_000011 - - LOVD SCNN1D - NM_001130413.3:c.1310+16G>C r.(=) p.(=) 16 intron - 1310 -
1 Unknown ./. g.1225612G>A - ACAP3_000010 - - LOVD ACAP3, SCNN1D - NM_030649.2:c.*3332C>T, NM_001130413.3:c.1663-39G>A r.(=) p.(=) 0, 39 utr-3, intron - 5837, 1663 -
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.1226102G>A - ACAP3_000018 - - LOVD ACAP3, SCNN1D - NM_030649.2:c.*2842C>T, NM_001130413.3:c.1917+28G>A r.(=) p.(=) 0, 28 utr-3, intron - 5347, 1917 -
1 Both (homozygous) ./. g.1226221A>G - ACAP3_000020 - - LOVD ACAP3 - NM_030649.2:c.*2723T>C r.(=) p.(=) - utr-3 - 5228 -
1 Both (homozygous) ./. g.1226292G>A - ACAP3_000024 - - LOVD ACAP3, SCNN1D - NM_030649.2:c.*2652C>T, NM_001130413.3:c.1935G>A r.(=), r.(?) p.(=) - utr-3, coding-synonymous - 5157, 1935 -
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.1229114C>A - ACAP3_000033 - - LOVD ACAP3, SCNN1D - NM_030649.2:c.2361-26G>T, NM_001130413.3:c.*2124C>A r.(=) p.(=) 26, 0 intron, utr-3 - 2361, 4533 -
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.1246170_1246172del - ACAP3_000051 - - LOVD ACAP3, CPSF3L - NM_030649.2:c.-2977_-2975del, NM_001256456.1:c.*1067_*1069del, NM_001256460.1:c.*1067_*1069del, NM_001256462.1:c.*1067_*1069del, NM_001256463.1:c.*1067_*1069del, NM_017871.5:c.*1067_*1069del r.(=) p.(=) - utr-5, utr-3 - -2977, 2888, 2783, 2576, 2567, 2870 -
1 Unknown ./. g.1247186del - ACAP3_000057 - - LOVD ACAP3, CPSF3L, PUSL1 - NM_030649.2:c.-3991del, NM_001256456.1:c.*53delC, NM_001256460.1:c.*53delC, NM_001256462.1:c.*53delC, NM_001256463.1:c.*53delC, NM_017871.5:c.*53delC, NM_153339.1:c.*427del r.(=) p.(=) - utr-5, utr-3 - -3991, 1874, 1769, 1562, 1553, 1856, 1339 -
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