|
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)
|
rs147231991
|
0.00146
|
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
|
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn)
|
rs755934966
|
0.00006
|
|
NM_000022.4(ADA):c.454C>A (p.Leu152Met)
|
rs121908728
|
0.00002
|
|
NM_018344.6(SLC29A3):c.401G>A (p.Arg134His)
|
rs761175955
|
0.00002
|
|
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His)
|
rs199472800
|
0.00001
|
|
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)
|
rs121918459
|
0.00001
|
|
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)
|
rs752202089
|
0.00001
|
|
NM_000082.4(ERCC8):c.317_320dup (p.Trp107Ter)
|
rs1580023012
|
|
|
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)
|
rs121909229
|
|
|
NM_000318.3(PEX2):c.146del (p.Leu48_Leu49insTer)
|
rs2132044757
|
|
|
NM_000338.3(SLC12A1):c.2584A>T (p.Lys862Ter)
|
rs1318795841
|
|
|
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln)
|
rs121917894
|
|
|
NM_001353214.3(DYM):c.1729-1G>A
|
rs2145988239
|
|
|
NM_001378452.1(ITPR1):c.3912C>G (p.His1304Gln)
|
rs556943368
|
|
|
NM_001379081.2(FREM1):c.3784A>T (p.Lys1262Ter)
|
rs2133202137
|
|
|
NM_002206.3(ITGA7):c.94_95dup (p.Ala33fs)
|
rs2136102892
|
|
|
NM_002485.5(NBN):c.56T>A (p.Leu19Ter)
|
rs749263651
|
|
|
NM_002633.3(PGM1):c.804T>A (p.Tyr268Ter)
|
rs1302961946
|
|
|
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser)
|
rs397507507
|
|
|
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu)
|
rs864622507
|
|
|
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro)
|
rs387907170
|
|
|
NM_005676.5(RBM10):c.355_358del (p.Glu119fs)
|
rs1602556716
|
|
|
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter)
|
rs199469465
|
|
|
NM_014363.6(SACS):c.6763del (p.Cys2255fs)
|
rs2137606872
|
|
|
NM_016302.4(CRBN):c.913_914dup (p.Gln306fs)
|
rs2126053905
|
|
|
NM_024312.5(GNPTAB):c.2693del (p.Lys898fs)
|
rs281864999
|
|
|
NM_024649.5(BBS1):c.1642del (p.Leu548fs)
|
rs1555050404
|
|
|
NM_024747.6(HPS6):c.1692dup (p.Phe565fs)
|
rs1384342700
|
|
|
NM_031885.5(BBS2):c.535-1G>C
|
rs2144177127
|
|
|
NM_052988.5(CDK10):c.202A>T (p.Lys68Ter)
|
rs2151571212
|
|
|
NM_052988.5(CDK10):c.608+1G>A
|
rs771066826
|
|
|
NM_152618.3(BBS12):c.2019del (p.Trp673fs)
|
rs2150738027
|
|
|
NM_170784.3(MKKS):c.1334T>G (p.Leu445Ter)
|
rs1057516054
|
|
|
NM_176824.3(BBS7):c.712_715del (p.Arg238fs)
|
rs760165634
|
|