NM_001395891.1(CLASP1):c.196-605C>T
|
rs188343279
|
0.00038
|
NM_000094.4(COL7A1):c.8803C>T (p.Gln2935Ter)
|
rs767051948
|
0.00005
|
NM_000124.4(ERCC6):c.4063-1G>C
|
rs766980240
|
0.00002
|
NM_000094.4(COL7A1):c.8109+1G>A
|
rs1050797523
|
0.00001
|
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln)
|
rs113993946
|
0.00001
|
NM_001953.5(TYMP):c.628A>C (p.Ser210Arg)
|
rs761665644
|
0.00001
|
NM_003995.4(NPR2):c.1435C>T (p.Arg479Ter)
|
rs1057519324
|
0.00001
|
NM_004826.4(ECEL1):c.2023G>A (p.Ala675Thr)
|
rs606231471
|
0.00001
|
GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1
|
|
|
GRCh38/hg38 Xq27.3-28(chrX:145728205-150464413)x1
|
|
|
NM_000094.4(COL7A1):c.4616del (p.Pro1539fs)
|
rs2107717630
|
|
NM_000094.4(COL7A1):c.5254_5257delinsTGAATCA (p.Gly1752_Pro1753delinsTer)
|
rs2107698884
|
|
NM_000094.4(COL7A1):c.7272+1G>A
|
rs2107648492
|
|
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)
|
rs121917902
|
|
NM_000171.4(GLRA1):c.477-1G>A
|
rs762864856
|
|
NM_000190.4(HMBS):c.210+1G>C
|
rs2134859316
|
|
NM_000190.4(HMBS):c.211-1G>T
|
rs1565754452
|
|
NM_000202.8(IDS):c.1006+1G>A
|
rs869025308
|
|
NM_000202.8(IDS):c.104-2A>C
|
rs2089505773
|
|
NM_000202.8(IDS):c.1047C>A (p.Ser349Arg)
|
rs375836575
|
|
NM_000202.8(IDS):c.1181-1G>C
|
rs864622777
|
|
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg)
|
rs199422229
|
|
NM_000202.8(IDS):c.1272del (p.Pro425fs)
|
rs2123994828
|
|
NM_000202.8(IDS):c.1316del (p.Leu439fs)
|
rs2123994709
|
|
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter)
|
rs199422227
|
|
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp)
|
rs199422231
|
|
NM_000202.8(IDS):c.1425G>A (p.Trp475Ter)
|
rs199422230
|
|
NM_000202.8(IDS):c.1466del (p.Gly489fs)
|
rs2123994190
|
|
NM_000202.8(IDS):c.1470T>G (p.Tyr490Ter)
|
rs2123994176
|
|
NM_000202.8(IDS):c.1497T>G (p.Tyr499Ter)
|
rs2089304408
|
|
NM_000202.8(IDS):c.1505G>A (p.Trp502Ter)
|
rs199422228
|
|
NM_000202.8(IDS):c.152_236del (p.Leu51fs)
|
rs2124065699
|
|
NM_000202.8(IDS):c.162T>A (p.Tyr54Ter)
|
rs141088021
|
|
NM_000202.8(IDS):c.196C>T (p.Gln66Ter)
|
rs1557340403
|
|
NM_000202.8(IDS):c.223C>T (p.Gln75Ter)
|
rs2089503778
|
|
NM_000202.8(IDS):c.252C>G (p.Cys84Trp)
|
rs1557340286
|
|
NM_000202.8(IDS):c.253G>A (p.Ala85Thr)
|
rs113993949
|
|
NM_000202.8(IDS):c.257C>G (p.Pro86Arg)
|
rs1557340280
|
|
NM_000202.8(IDS):c.262C>T (p.Arg88Cys)
|
rs398123249
|
|
NM_000202.8(IDS):c.263G>A (p.Arg88His)
|
rs2089497431
|
|
NM_000202.8(IDS):c.418+2T>C
|
rs2124062810
|
|
NM_000202.8(IDS):c.419-2A>G
|
rs2089476206
|
|
NM_000202.8(IDS):c.473ATC[1] (p.His159del)
|
rs1557339887
|
|
NM_000202.8(IDS):c.474del (p.His159fs)
|
rs2124055341
|
|
NM_000202.8(IDS):c.514C>T (p.Arg172Ter)
|
rs104894860
|
|
NM_000202.8(IDS):c.57del (p.Val20fs)
|
rs2124069318
|
|
NM_000202.8(IDS):c.601_602del (p.Ser201fs)
|
rs2124046861
|
|
NM_000202.8(IDS):c.683C>T (p.Pro228Leu)
|
rs113993945
|
|
NM_000202.8(IDS):c.709-1G>A
|
rs2089438403
|
|
NM_000202.8(IDS):c.886dup (p.Ile296fs)
|
rs2124020896
|
|
NM_000202.8(IDS):c.895dup (p.Ser299fs)
|
rs2124020775
|
|
NM_000202.8(IDS):c.955del (p.Asp319fs)
|
rs2124020278
|
|
NM_000202.8(IDS):c.998C>T (p.Ser333Leu)
|
rs104894853
|
|
NM_000213.5(ITGB4):c.4734dup (p.Asn1579fs)
|
rs2143532950
|
|
NM_000271.5(NPC1):c.1418C>G (p.Ser473Ter)
|
|
|
NM_000396.4(CTSK):c.158dup (p.Asn53fs)
|
rs764168526
|
|
NM_000396.4(CTSK):c.402del (p.Gln135fs)
|
rs2101951682
|
|
NM_000396.4(CTSK):c.431_432del (p.Ser144fs)
|
rs2101951641
|
|
NM_000396.4(CTSK):c.458del (p.Lys153fs)
|
rs2101951608
|
|
NM_000396.4(CTSK):c.907G>A (p.Gly303Arg)
|
rs2101946013
|
|
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs)
|
rs606231193
|
|
NM_001040716.2(PC):c.2668G>T (p.Val890Phe)
|
rs1555014957
|
|
NM_001083962.2(TCF4):c.1086del (p.Trp362fs)
|
rs2145600541
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001160372.4(TRAPPC9):c.2458_2459del (p.Leu820fs)
|
rs2131321455
|
|
NM_001190274.2(FBXO11):c.2636_2637del (p.Glu879fs)
|
rs1230294673
|
|
NM_001195305.3(BBIP1):c.109C>T (p.Gln37Ter)
|
rs1590746439
|
|
NM_001206999.2(CIT):c.4617del (p.Asp1541fs)
|
rs2137067282
|
|
NM_001365902.3(NFIX):c.416G>A (p.Gly139Glu)
|
rs1555696625
|
|
NM_001395891.1(CLASP1):c.196-609C>T
|
rs575472572
|
|
NM_001953.5(TYMP):c.763_765del (p.Leu255del)
|
rs1556488264
|
|
NM_002778.4(PSAP):c.721T>G (p.Cys241Gly)
|
|
|
NM_003995.4(NPR2):c.1758del (p.Ala585_Cys586insTer)
|
rs1057519334
|
|
NM_003995.4(NPR2):c.2302T>C (p.Cys768Arg)
|
rs1057519333
|
|
NM_003995.4(NPR2):c.2944G>A (p.Asp982Asn)
|
rs1057519336
|
|
NM_003995.4(NPR2):c.560T>A (p.Val187Asp)
|
rs1057519335
|
|
NM_004273.5(CHST3):c.491C>T (p.Pro164Leu)
|
rs771866012
|
|
NM_004273.5(CHST3):c.533dup (p.Ala179fs)
|
rs769540174
|
|
NM_004273.5(CHST3):c.904G>C (p.Asp302His)
|
rs1316347883
|
|
NM_004782.4(SNAP29):c.487dup (p.Ser163fs)
|
rs387907363
|
|
NM_004826.4(ECEL1):c.716dup (p.Tyr239Ter)
|
rs587776917
|
|
NM_004897.5(MINPP1):c.1027_1028del (p.Ile343fs)
|
rs2131815084
|
|
NM_005957.5(MTHFR):c.1070G>A (p.Arg357His)
|
rs977038830
|
|
NM_005957.5(MTHFR):c.1408G>T (p.Glu470Ter)
|
rs139645527
|
|
NM_006009.4(TUBA1A):c.1265G>A (p.Arg422His)
|
rs137853050
|
|
NM_006031.6(PCNT):c.4974_4977del (p.Lys1659fs)
|
rs2147503631
|
|
NM_006031.6(PCNT):c.8107C>T (p.Arg2703Ter)
|
rs758298374
|
|
NM_006031.6(PCNT):c.8752-2A>C
|
rs1394951912
|
|
NM_007254.4(PNKP):c.1299-5_1303del
|
rs2122319422
|
|
NM_012233.3(RAB3GAP1):c.2642T>G (p.Leu881Ter)
|
rs797045905
|
|
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter)
|
rs886040971
|
|
NM_014865.4(NCAPD2):c.4120+2T>C
|
rs1555141158
|
|
NM_017646.6(TRIT1):c.1204C>T (p.Arg402Ter)
|
rs367752391
|
|
NM_017646.6(TRIT1):c.568C>T (p.Gln190Ter)
|
rs2124597984
|
|
NM_018136.5(ASPM):c.1154_1155del (p.Glu385fs)
|
rs199422137
|
|
NM_018676.4(THSD1):c.892G>T (p.Glu298Ter)
|
|
|
NM_020964.3(EPG5):c.3544G>T (p.Glu1182Ter)
|
rs2145712492
|
|
NM_021008.4(DEAF1):c.815T>G (p.Leu272Ter)
|
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_033629.6(TREX1):c.58dup (p.Glu20fs)
|
rs78300695
|
|
NM_130384.3(ATRIP):c.829+2T>G
|
rs2107215447
|
|
NM_130466.4(UBE3B):c.3065_3078delinsC (p.Arg1022fs)
|
|
|
NM_139284.3(LGI4):c.2T>C (p.Met1Thr)
|
rs1207534366
|
|