CBS MUTATION DATABASE

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List of all CBS alleles

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IDgDNA NT changeExon-IntronMutation typeRestriction sitecDNA NT changeProtein changeEye Skeletal Vasc CNS Disease type Responsivness AncestryReferencesLinked mutation CpG
1146 C>TEX1missDde I+146 C>TP49Leyeskel---responsiveItaliande Franchis et al.,1998IVS11-89del49CG>TG
2172 C>TEX1miss172 C>TR58WeyeskelvasccnsseverenonItaliande Franchis et al., 1999341 C>T; [A114V]CG>TG
3194 A>GEX1miss194 A>GH65R------JapaneseChen et al. 1999
43600 C>GEX2miss233 C>GP78R--vasc-mildresponsiveIrishde Franchis et al., 1994306 G>C; [K102N]
53620 G>AEX2miss253 G>AG85Reyeskel--mild-DanishMacLean et al., 2002CG>CA
63629 C>TEX2missMnl I+262 C>TP88S--vasc-mildresponsiveItalianSebastio et al., 1995
73669 T>CEX2miss302 T>CL101P------IrishGallagher et al., 1998
83669 T>CEX2miss302 T>CL101P------IrishGallagher et al., 1998
93669 T>CEX2miss302 T>CL101P------IrishGallagher et al., 1998
103671 A>C 6643 del29EX2; IVS4missPstI+304 A>C; IVS4-29del129K102Q; del EX5eye-vasc-severe-ArabianKozich et al., 1997bIVS4-31del 29; [del ex 5]
113673 G>CEX2miss306 G>CK102N--vasc-mildresponsiveIrishde Franchis et al., 1994233 C>G; [P78R]
125840 C>TEX3missMae II+341 C>TA114VeyeskelvasccnsseverenonItaliande Franchis et al., 1999172 C>T; [R58W]CG>TG
135840 C>TEX3missMae II+341 C>TA114Veyeskelvasc-mildresponsiveIrish/GermanKozich et al., 1993CG>TG
145840 C>TEX3missMae II+341 C>TA114Veyeskel--mildresponsiveItaliande Franchis et al., 1999CG>TG
155840 C>TEX3missMae II+341 C>TA114V----moderateresponsiveItalianCG>TG
165840 C>TEX3missMae II+341 C>TA114Veyeskel-cnsmildresponsiveItalianCG>TG
175840 C>TEX3missMae II+341 C>TA114Veyeskel-cnsmildresponsiveItalianCG>TG
185845 G>AEX3miss346 G>AG116R----moderateresponsiveItalianSperandeo et al., 1996bCG>CA
195845 G>AEX3miss346 G>AG116ReyeskelvasccnssevereresponsiveItalianSebastio G.*CG>CA
205845 G>AEX3miss346 G>AG116Reyeskel--mildresponsiveItalianSebastio G.*CG>CA
215845 G>AEX3miss346 G>AG116R------JapaneseChen et al. 1999CG>CA
225860 C>TEX3miss361 C>TR121C--vasccns--Norwegian/Irish/GermanShih, V.*CG>TG; *
235860 C>TEX3miss361 C>TR121C----asymptomatic-Norwegian/Irish/GermanShih, V.*CG>TG; *
245861 G>AEX3miss362 G>AR121Heyeskel-cns--African AmericanShih, V.*CG>CA; *
255861 G>TEX3miss362 G>TR121Leye---mild-ChineseShih, V.*
265861 G>TEX3miss362 G>TR121Leye---mild-ChineseShih, V.*
275872 C>TEX3missAci I -373 C>TR125W-skel--mildpartialDutchKluijtmans et al., 1998CG>TG
285873 G>AEX3missPst I+374 G>AR125Qeyeskel-cnsseverenonPortugueseGordon R *CG>CA
295873 G>AEX3missPst I+374 G>AR125Qeyeskel-cnsseverenonPortugueseGordon R *CG>CA
305873 G>AEX3missPst I+374 G>AR125QeyeskelvasccnsseverepartialItalianSebastio et al. 1995CG>CA
315873 G>AEX3missPst I+374 G>AR125QeyeskelvasccnsseverepartialItalianSebastio et al. 1995CG>CA
325873 G>AEX3missPst I+374 G>AR125Q----moderatenonIrishMarble et al.,1994393 G>C; [E131D]CG>CA
335875 A>GEX3miss376 A>GM126V------Italiande Franchis et al., 1999
345883 G>CEX3missMul I-,Fok I-384 G>CE128Deyeskelvasccns-nonFrenchCoude et al., 1998
355914 G>AEX3miss415 G>AG139R----asymptomaticresponsiveItalian/IrishShih et al., 1995CG>CA
365929 G>AEX3missTaq I-430 G>AE144Keyeskel--moderateresponsiveEnglish/GermanShih et al., 1995CG>CA
375929 G>AEX3missTaq I-430 G>AE144Keyeskel-cnsseverenonEnglish/WelshGordon et al., 1997CG>CA
385929 G>AEX3missTaq I-430 G>AE144Keyeskel-cnsmildpartialAustralianDawson et al.,19971316 G>A; [R439Q]CG>CA
395929 G>AEX3missTaq I-430 G>AE144K------JapaneseShih et al., 1995CG>CA
405933 C>TEX3miss434 C>TP145Leyeskelvasc-mildresponsiveIrish/GermanKozich et al., 1993CG>TG
415941 G>AEX3missMsp I-,BstN I+442 G>AG148RnbsnbsnbsnbsasymptomaticnonJapaneseOhura,T.*CG>CA
425950 G>AEX3miss451 G>AG151Reyeskel-cns--African AmericanShih, V.*CG>CA
435950 G>AEX3miss451 G>AG151R-skelvasccns--African AmericanShih, V.*CG>CA
446503 C>GEX4missSau3A I-456 C>GI152MeyeskelvasccnsseverepartialDutchKluijtmans et al., 1998
456503 C>GEX4missSau3A I-456 C>GI152MeyeskelvasccnsseverepartialDutchKluijtmans et al., 1998
466503 C>GEX4missSau3A I-456 C>GI152M-skel--mildresponsiveDutchKluijtmans et al., 1999
476510 G>AEX4missSau96 I+463 G>AA155Teyeskel-cnsmildpartialCzechJanosik et al., 2001430G>A;[E144K]
486541 G>AEX4missBsoF I-494 G>AC165Yeyeskel-cnsseverenonDutchKluijtmans et al., 1999
496541 G>AEX4missBsoF I-494 G>AC165Yeyeskel-cnsseverenonDutchKluijtmans et al., 1999
506541 G>AEX4missBsoF I-494 G>AC165Y----mildresponsiveDutchKluijtmans et al., 1995
516541 G>AEX4missBsoF I-494 G>AC165YeyeskelvasccnsmoderateresponsiveDutchKluijtmans et al., 1999
526541 G>AEX4missBsoF I-494 G>AC165Yeyeskel--moderatenonSouth AfricanGordon et al., 1997
536549 G>AEX4miss502 G>AV168M------n.d.Kruger and Cox,1995CG>CA
546573 G>AEX4missBstX I+526 G>AE176Keyeskel-cnsseverenonSlovakKozich et al., 1997aCG>CA
556573 G>AEX4missBstX I+526 G>AE176Keyeskel-cnsseverenonSlovakKozich et al., 1997aCG>CA
566681 T>CEX5miss539 T>CV180Aeyeskel-cns-responsiveDutchKluijtmans et al., 1999
576714 C>TEX5missFokI+572 C>TT191Meye--cnsmoderatenonSpanishKluijtmans, L.*CG>TG
586714 C>TEX5missFokI+572 C>TT191Meye--cnsmoderatenonSpanishKluijtmans, L.*CG>TG
596735 A>TEX5miss593 A>TD198Veyeskel---nonIrish/Italian, ScandinavianShih, V.*
606927 G>AEX6miss671 G>AR224H------n.d.Kruger and Cox,1995CG>CA
616932 G>AEX6miss676 G>AA226TnbsnbsnbsnbsasymptomaticresponsiveAfrican AmericanShan and Kruger,1998CG>CA
626940 C>GEX6miss684 C>GN228K----asymptomatic-IrishGallagher et al., 1998
636956 G>AEX6miss700 G>AD234Neyeskel-cns-nonPuerto3 RicanShih, V.*CG>CA
646971 G>AEX6miss715 G>AE239K--vasc-mildresponsiveIrishde Franchis et al., 1994
658238 C>TEX7missNla III+770 C>TT257Meyeskel-cnsmoderatenonItalianSebastio et al., 1995CG>TG
668238 C>TEX7missNla III+770 C>TT257Meyeskel-cnsmoderatenonItalianSebastio et al., 1995CG>TG
678243 G>AEX7miss775 G>AG259S------JapaneseChen et al. 1999CG>CA
688253 C>TEX7miss785 C>TT262M---cnsmild-ItalianShih, V.*CG>TG
698253 C>TEX7miss785 C>TT262M---cnsmild-ItalianShih, V.*CG>TG
708253 C>TEX7miss785 C>TT262Meyeskel-cnsmoderatenonIr, Fr/Engl, FrShih, V.*CG>TG
718253 C>TEX7miss785 C>TT262M----asymptomatic-Norwegian/Irish/GermanShih, V.*CG>TG
728253 C>TEX7miss785 C>TT262Meyeskel-cnsmoderatenonNorwegianKim et al. 1997CG>TG
738253 C>TEX7miss785 C>TT262Meyeskel-cnsmoderatenonNorwegianKim et al. 1997CG>TG
748265 G>AEX7miss797 G>AR266Keye---mildresponsiveNorwegianKim et al., 1997
758265 G>AEX7miss797 G>AR266Keye---mildresponsiveNorwegianKim et al., 1997
768265 G>AEX7miss797 G>AR266Keye---mildresponsiveNorwegianKim et al., 1997
778265 G>AEX7miss797 G>AR266Keye-vasccnsmildresponsiveNorwegianKim et al., 1997
788265 G>AEX7miss797 G>AR266Keye-vasc--responsiveNorwegianKim et al., 1997
798265 G>AEX7miss797 G>AR266Keye---mildresponsiveNorwegianKim et al., 1997
808265 G>AEX7miss797 G>AR266Keye---mildresponsiveNorwegianKim et al., 1997
819122 T>CEX8missBsr I+833 T>CI278Teyeskel--mildresponsiveJewishKozich and Kraus,1992
829122 T>CEX8missBsr I+833 T>CI278Teye---mildresponsivePolishShih et al. 1995
839122 T>CEX8missBsr I+833 T>CI278Teye---mildresponsivePolishShih et al. 1995
849122 T>CEX8missBsr I+833 T>CI278Teye---mildresponsiveGerman/NorwegianShih et al. 1995
859122 T>CEX8missBsr I+833 T>CI278Teye---mildresponsiveGerman/NorwegianShih et al. 1995
869122 T>CEX8missBsr I+833 T>CI278T----asymptomaticresponsiveJewishShih V. *
879122 T>CEX8missBsr I+833 T>CI278T----asymptomaticresponsiveItalian/IrishShih et al. 1995
889122 T>CEX8missBsr I+833 T>CI278Teyeskel--moderateresponsiveGerman/EnglishShih et al., 1995
899122 T>CEX8missBsr I+833 T>CI278Teyeskelvasccns-responsivePortug/Dutch/JewShih et al. 1995
909122 T>CEX8missBsr I+833 T>CI278Teyeskel--mildresponsiveItalianSebastio G.*
919122 T>CEX8missBsr I+833 T>CI278T------Italian/FrenchKozich and Kraus,1992
929122 T>CEX8missBsr I+833 T>CI278T------ItalianSebastio G.*
939122 T>CEX8missBsr I+833 T>CI278Teye---mildresponsiveItalianSperandeo et al., 1996a
949122 T>CEX8missBsr I+833 T>CI278Teyeskel--mildresponsiveItalianSebastio et al. 1995
959122 T>CEX8missBsr I+833 T>CI278Teyeskel--mildresponsiveItalianSebastio et al. 1995
969122 T>CEX8missBsr I+833 T>CI278TeyeskelvasccnsmoderateresponsiveDutchKluijtmans et al. 1999
979122 T>CEX8missBsr I+833 T>CI278Teyeskel---responsiveDutchKluijtmans L.A.J.*
989122 T>CEX8missBsr I+833 T>CI278Teyeskel--moderateresponsiveDutchKluijtmans et al. 1999
999122 T>CEX8missBsr I+833 T>CI278TeyeskelvasccnssevereresponsiveDutchKluijtmans et al. 1999
1009122 T>CEX8missBsr I+833 T>CI278TeyeskelvasccnssevereresponsiveDutchKluijtmans et al. 1999
1019122 T>CEX8missBsr I+833 T>CI278Teyeskelvasc-severeresponsiveDutchKluijtmans et al. 1999
1029122 T>CEX8missBsr I+833 T>CI278Teyeskelvasc-severeresponsiveDutchKluijtmans et al. 1999
1039122 T>CEX8missBsr I+833 T>CI278Teyeskel--moderateresponsiveDutchKluijtmans et al. 1999
1049122 T>CEX8missBsr I+833 T>CI278Teyeskel-cnsmoderatepartialDutchKluijtmans et al. 1999
1059122 T>CEX8missBsr I+833 T>CI278Teyeskel-cnsmoderatepartialDutchKluijtmans et al. 1999
1069122 T>CEX8missBsr I+833 T>CI278Teyeskelvasc-moderateresponsiveDutchKluijtmans et al. 1999
1079122 T>CEX8missBsr I+833 T>CI278Teyeskelvasc-severeresponsiveDutchKozich and Kraus,1992
1089122 T>CEX8missBsr I+833 T>CI278Teyeskelvasc-severeresponsiveDutchKozich and Kraus,1992
1099122 T>CEX8missBsr I+833 T>CI278T--vasc-mildresponsiveItalianSebastio et al., 1995
1109122 T>CEX8missBsr I+833 T>CI278T----mildresponsiveDutchKluijtmans et al. 1999
1119122 T>CEX8missBsr I+833 T>CI278T----mildresponsiveDutchKluijtmans et al. 1999
1129122 T>CEX8missBsr I+833 T>CI278Teyeskel--mildpartialDutchKluijtmans et al. 1999
1139122 T>CEX8missBsr I+833 T>CI278Teyeskel--mildpartialDutchKluijtmans et al. 1999
1149122 T>CEX8missBsr I+833 T>CI278T-skel--mildresponsiveDutchKluijtmans et al., 1999
1159122 T>CEX8missBsr I+833 T>CI278T----mildresponsiveDutchKluijtmans L.A.J.*
1169122 T>CEX8missBsr I+833 T>CI278T----mildresponsiveDutchKluijtmans L.A.J.*
1179122 T>CEX8missBsr I+833 T>CI278Teyeskel-cnssevereresponsiveDutchKluijtmans L.A.J.*
1189122 T>CEX8missBsr I+833 T>CI278Teyeskel-cnssevereresponsiveDutchKluijtmans L.A.J.*
1199122 T>CEX8missBsr I+833 T>CI278T------?Kozich and Kraus,1992
1209122 T>CEX8missBsr I+833 T>CI278T----mildresponsiveGerm/EnglTsai et al. 1997b
1219122 T>CEX8missBsr I+833 T>CI278T----mildresponsiveItal/PolTsai et al. 1997b
1229122 T>CEX8missBsr I+833 T>CI278Teye---mildresponsive?Tsai et al. 1996
1239122 T>CEX8missBsr I+833 T>CI278T-----responsiveWelshTsai et al. 1996
1249122 T>CEX8missBsr I+833 T>CI278Teye-vasc-severeresponsive?Tsai M.Y. *
1259122 T>CEX8missBsr I+833 T>CI278Teye---mildresponsive?Tsai et al. 1996
1269122 T>CEX8missBsr I+833 T>CI278Teye---mildresponsive?Tsai et al. 1996
1279122 T>CEX8missBsr I+833 T>CI278Teyeskel--severepartialAustralianDawson et al.,1997
1289122 T>CEX8missBsr I+833 T>CI278Teyeskel-cnsmoderatepartialCzechJanosik et al., 2001
1299122 T>CEX8missBsr I+833 T>CI278Teyeskel-cnsmildresponsiveCzechJanosik et al., 2001
1309122 T>CEX8missBsr I+833 T>CI278Teyeskel-cnsmildpartialCzechJanosik et al., 2001
1319122 T>CEX8missBsr I+833 T>CI278Teye-vasc-mildresponsiveCzechJanosik et al., 2001
1329122 T>CEX8missBsr I+833 T>CI278Teye-vasc-mildresponsiveCzechJanosik et al., 2001
1339122 T>CEX8missBsr I+833 T>CI278T------HungarianKozich V.*
1349122 T>CEX8missBsr I+833 T>CI278T----moderateresponsiveNorwegianKim et al. 1997
1359122 T>CEX8missBsr I+833 T>CI278Teyeskel---nonNorwegianKim et al. 1997
1369122 T>CEX8missBsr I+833 T>CI278Teyeskel--mildresponsiveGermanLinnebank, M.*
1379122 T>CEX8missBsr I+833 T>CI278Teye-vasc-mildresponsiveGermanLinnebank, M.*
1389122 T>CEX8missBsr I+833 T>CI278Teye-vasc-mildresponsiveGermanLinnebank, M.*
1399122 T>CEX8missBsr I+833 T>CI278Teye---mildresponsiveGermanLinnebank, M.*
1409122 T>CEX8missBsr I+833 T>CI278Teye---mildresponsiveGermanLinnebank, M.*
1419122 T>CEX8missBsr I+833 T>CI278Teye-vasccnsmoderatepartialDanishGaustadnes et al., 1998
1429122 T>CEX8missBsr I+833 T>CI278T--vasc-moderate-DanishMacLean et al., 2002
1439158 C>TEX8missAlu I+869 C>TP290L----moderateresponsiveSpanishSperandeo et al., 1995CG>TG
1449193 G>AEX8miss904 G>AE302KeyeskelvasccnssevereresponsiveItaliande Franchis et al., 1999CG>CA
1459202 G>AEX8miss913 G>AG305Reye---mildresponsiveItalianSperandeo et al., 1996a
1469208 G>AEX8missAlu I+919 G>AG307S------IrishKraus J. P.*CG>CA
1479208 G>AEX8missAlu I+919 G>AG307S------IrishKraus J.P. *CG>CA
1489208 G>AEX8missAlu I+919 G>AG307SeyeskelvasccnsseverenonIrishHu et al., 1993CG>CA
1499208 G>AEX8missAlu I+919 G>AG307SeyeskelvasccnsseverenonIrishHu et al., 1993CG>CA
1509208 G>AEX8missAlu I+919 G>AG307Seyeskel-cnsmoderatenonIrishHu et al., 1993CG>CA
1519208 G>AEX8missAlu I+919 G>AG307Seyeskel-cnsmoderatenonIrishHu et al., 1993CG>CA
1529208 G>AEX8missAlu I+919 G>AG307S------German/French, Dutch, Irish, EnglishHu et al., 1993CG>CA
1539208 G>AEX8missAlu I+919 G>AG307S------English, Irish, German/Italian, GermanHu et al., 1993CG>CA
1549208 G>AEX8missAlu I+919 G>AG307S------English/ScotishHu et al., 1993CG>CA
1559208 G>AEX8missAlu I+919 G>AG307S------Irish, Jewish/Ukrainien, JewishHu et al., 1993CG>CA
1569208 G>AEX8missAlu I+919 G>AG307S----asymptomatic-French/Scottish, FrenchHu et al., 1993CG>CA
1579208 G>AEX8missAlu I+919 G>AG307Seyeskel--severenonIrishGordon R.*CG>CA
1589208 G>AEX8missAlu I+919 G>AG307Seyeskel--severenonIrishGordon R.*CG>CA
1599208 G>AEX8missAlu I+919 G>AG307S------Englishde-Franchis et al. 1999CG>CA
1609208 G>AEX8missAlu I+919 G>AG307S------IrishGallager et al. 1998CG>CA
1619208 G>AEX8missAlu I+919 G>AG307S------Irish.Gallager et al. 1998CG>CA
1629208 G>AEX8missAlu I+919 G>AG307S------IrishGallager et al. 1998CG>CA
1639208 G>AEX8missAlu I+919 G>AG307S------IrishGallager et al. 1998CG>CA
1649208 G>AEX8missAlu I+919 G>AG307S------IrishGallager et al. 1998CG>CA
1659208 G>AEX8missAlu I+919 G>AG307S------IrishGallager et al. 1998CG>CA
1669208 G>AEX8missAlu I+919 G>AG307S------IrishGallager et al. 1998CG>CA
1679208 G>AEX8missAlu I+919 G>AG307S------IrishGallager et al. 1998CG>CA
1689208 G>AEX8missAlu I+919 G>AG307S------IrishGallager et al. 1998CG>CA
1699208 G>AEX8missAlu I+919 G>AG307S------IrishGallager et al. 1998CG>CA
1709208 G>AEX8missAlu I+919 G>AG307S------IrishGallager et al. 1998CG>CA
1719208 G>AEX8missAlu I+919 G>AG307S------IrishGallager et al. 1998CG>CA
1729208 G>AEX8missAlu I+919 G>AG307S------IrishGallager et al. 1998CG>CA
1739208 G>AEX8missAlu I+919 G>AG307S------IrishGallager et al. 1998CG>CA
1749208 G>AEX8missAlu I+919 G>AG307S------IrishGallager et al. 1998CG>CA
1759208 G>AEX8missAlu I+919 G>AG307S------IrishGallager et al. 1998CG>CA
1769208 G>AEX8missAlu I+919 G>AG307S------IrishGallager et al. 1998CG>CA
1779208 G>AEX8missAlu I+919 G>AG307S------IrishGallager et al. 1998CG>CA
1789208 G>AEX8missAlu I+919 G>AG307S------IrishGallager et al. 1998CG>CA
1799208 G>AEX8missAlu I+919 G>AG307S------IrishGallager et al. 1998CG>CA
1809208 G>AEX8missAlu I+919 G>AG307S------IrishGallager et al. 1998CG>CA
1819208 G>AEX8missAlu I+919 G>AG307S------IrishGallager et al. 1998CG>CA
1829208 G>AEX8missAlu I+919 G>AG307S------IrishGallager et al. 1998CG>CA
1839208 G>AEX8missAlu I+919 G>AG307S------NorwegianGallager P.M.*CG>CA
1849208 G>AEX8missAlu I+919 G>AG307Seyeskel-cns--IrishShih V.*CG>CA
1859208 G>AEX8missAlu I+919 G>AG307S------Port/BrazilShih V.*CG>CA
1869208 G>AEX8missAlu I+919 G>AG307S------Port/BrazilShih V. *CG>CA
1879208 G>AEX8missAlu I+919 G>AG307S------PortugueseShih V.*CG>CA
1889208 G>AEX8missAlu I+919 G>AG307Seyeskel-cnsmoderatenonIr, Fr/Engl, FrShih, V.*CG>CA
1899208 G>AEX8missAlu I+919 G>AG307S------?Shih V.*CG>CA
1909208 G>AEX8missAlu I+919 G>AG307S------?Shih V.*CG>CA
1919208 G>AEX8missAlu I+919 G>AG307S-----nonAf. Am.Shih V.*CG>CA
1929208 G>AEX8missAlu I+919 G>AG307S----asymptomatic-EnglishShih V.*CG>CA
1939208 G>AEX8missAlu I+919 G>AG307S------AustralianGordon R.*CG>CA
1949208 G>AEX8missAlu I+919 G>AG307S------AustralianGordon R.*CG>CA
1959208 G>AEX8missAlu I+919 G>AG307S------?Kruger W. *CG>CA
1969208 G>AEX8missAlu I+919 G>AG307S------?Kruger W.*CG>CA
1979208 G>AEX8missAlu I+919 G>AG307S----moderateresponsiveEnglish, Irish, Dutch, GermanTsai et al., 1997aCG>CA
1989208 G>AEX8missAlu I+919 G>AG307Seyeskel-cnsseverenon?Tsai et al. 1996CG>CA
1999208 G>AEX8missAlu I+919 G>AG307Seyeskel-cnsseverenon?Tsai et al. 1996CG>CA
2009208 G>AEX8missAlu I+919 G>AG307S----severenon?Tsai et al. 1996CG>CA
2019208 G>AEX8missAlu I+919 G>AG307S----severenon?Tsai et al. 1996CG>CA
2029208 G>AEX8missAlu I+919 G>AG307S------?Tsai M.Y. *CG>CA
2039208 G>AEX8missAlu I+919 G>AG307Seye--cnsmoderatenonNorwegianKim et al., 1997CG>CA
2049208 G>AEX8missAlu I+919 G>AG307S--vasc-mildnonNorwegianKim et al., 1997CG>CA
2059208 G>AEX8missAlu I+919 G>AG307Seye-vasc-moderatenonNorwegianKim et al., 1997CG>CA
2069208 G>AEX8missAlu I+919 G>AG307Seye-vasc-moderatenonNorwegianKim et al., 1997CG>CA
2079208 G>AEX8missAlu I+919 G>AG307S----asymptomaticnonIrishGallagher et al., 1998CG>CA
2089804 T>CEX9miss959 T>CV320Aeye--cnsmoderatenonNorwegianKim et al., 1997
2099804 T>CEX9miss959 T>CV320A--vasc-mildnonNorwegianKim et al., 1997
2109837 C>AEX9missHinf I+992 C>AA331E------AustralianDawson et al.,1997
2119837 C>TEX9miss992 C>TA331V------n.d.Kruger and Cox,1995CG>TG
2129851 C>TEX9miss1006 C>TR336C------Englishde Franchis et al.,1999CG>TG; *
2139852 G>AEX9missSph I-1007 G>AR336Heye--cnsmildresponsiveNorth AfricanCoude et al., 1998CG>CA; *
2149852 G>AEX9missSph I-1007 G>AR336Heye--cnsmildresponsiveNorth AfricanCoude et al., 1998CG>CA; *
21511661 G>AEX10miss1055 G>AS352Neyeskel-cnsmoderatenonHaitianShih, V.*
21611664 C>TEX10miss1058 C>TT353Meyeskel--severepartialAustralianDawson et al.,1997CG>TG
21711664 C>TEX10miss1058 C>TT353MnbsnbsnbsnbsasymptomaticresponsiveAfrican AmericanShan and Kruger,1998CG>TG
21811666 G>AEX10miss1060 G>AV354Meyeskel-cns-nonPortugueseCoude et al., 1998
21911669G>CEX10miss1063G>CA355P------IrishGallagher et al., 1998
22011687 G>AEX10missHha I-1081G>AA361Teyeskelvasc-severenonPortugueseCastro et al., 1999CG>CA
22111687 G>AEX10missHha I-1081G>AA361Teyeskelvasc-severenonPortugueseCastro et al., 1999CG>CA
22211711 C>TEX10missHha I-1105 C>TR369C----moderateresponsiveNorwegianKim et al., 1997CG>TG; *
22311711 C>TEX10missHha I-1105 C>TR369CeyeskelvasccnssevereresponsiveDutchKluijtmans et al., 19991471 C>T [R491C]CG>TG; *
22411712 G>AEX10miss1106 G>AR369H------IrishValle,D.*CG>CA; *
22511712 G>AEX10miss1106 G>AR369H------IrishValle,D.*CG>CA; *
22611715 G>AEX10missMae II+1109 G>AC370Y----mildresponsiveIt/PolTsai et al., 1997b
22711717 G>AEX10miss1111 G>AV371Meyeskel--moderateresponsiveDutchKluijtmans et al.,1999CG>CA
22811717 G>AEX10miss1111 G>AV371Meyeskelvasc-moderateresponsiveDutchKluijtmans et al.,1999CG>CA
22912888 A>GEX11miss1150 A>GK384Eeyeskelvasc-severeresponsiveFrenchAral et al., 1997
23012888 A>GEX11miss1150 A>GK384Eeyeskelvasc-severeresponsiveFrenchAral et al., 1997
23112890 G>CEX11miss1152 G>CK384Neyeskel-cnsmoderatepartialLebaneseLinnebank, M.*
23212890 G>CEX11miss1152 G>CK384Neyeskel-cnsmoderatepartialLebaneseLinnebank, M.*
23312911 G>TEX11miss1173 G>TM391Ieyeskel-cns-nonGermanLinnebank, M.*
23413296 C>AEX12miss1301 C>AT434N-skel--mildpartialDutchKluijtmans et al., 1998
23513299T>CEX12miss1304T>CI435Teye--cnsmoderate-DanishMacLean et al., 2002
23613311 G>AEX12missEcoR II+, Msp I-1316 G>AR439Q----mildresponsiveEngl/GermTsai et al. 1997bCG>CA
23713311 G>AEX12missEcoR II+, Msp I-1316 G>AR439Qeyeskel-cnsmildpartialAustralianDawson et al.,1997430 G>A; [E144K]CG>CA
23813325 G>AEX12missTaq I-1330 G>AD444N-skel--mildpartialDutchKluijtmans et al., 1996CG>CA
23913325 G>AEX12missTaq I-1330 G>AD444N-skel--mildpartialDutchKluijtmans et al., 1996CG>CA
24013325 G>AEX12missTaq I-1330 G>AD444N-skelvasc-responsiveVenezuelanShih V.*CG>CA
24113325 G>AEX12missTaq I-1330 G>AD444Neyeskelvasc-mildpartialGermanLinnebank, M..*CG>CA
24213325 G>AEX12missTaq I-1330 G>AD444Neyeskel--mild-DanishMacLean et al., 2002CG>CA
24313972 C>TEX13miss1397C>TS466L--vasc-moderate-DanishMacLean et al., 2002CG>TG
24415304 C>TEX14missBgl II+1471 C>TR491CeyeskelvasccnssevereresponsiveDutchKluijtmans et al., 19981105 C>T [R369C]CG>TG
24518255 T>AEX16miss1601 T>AV534D------FrenchCoude et al., 1995
24618270 T>CEX16miss1616 T>CL539SeyeskelvasccnssevereresponsiveFrenchAral et al., 1997
24718270 T>CEX16miss1616 T>CL539SeyeskelvasccnssevereresponsiveFrenchAral et al., 1997
24812908 G>AEX11nons1170 G>AW390Xeyeskel--moderate-Fr.Canadien/EnglShih, V.*
24913221 G>AEX12nonsBsl I-1226 G>AW409Xeyeskel-cnsseverenonSlovakJanosik et al., 2001
25013254 C>GEX12nons1259C>GS420Xeyeskel-cns--North AfricanCoude et al., 1998
25113316 A>TEX12nons1321 A>TK441X------JapaneseChen et al. 1999
25219insCEX1ins19insCfs, stop at aa 36eyeskel-cnsseverenonSlovakKozich et al., 1997b
25319insCEX1ins19insCfs, stop at aa 36eyeskel-cnsseverenonSlovakKozich et al., 1997b
25413221 G>AEX12nonsBsl I-1226 G>AW409X-skelvasccnsseverepartialCzechJanosik et al., 2001
255210 G>AIN1delIVS1+1G>Adel ex1 or 153del57eyeskel-cnsseverenonEnglish/WelshGordon et al., 1997
2563680 C>GEX2del313 C>G313del4, fseyeskel--moderate-FrCan/Engl.Shih, V.*
257n.d.n.d.del452del 80del ex 4eyeskel-cnsmoderatenonHaitianShih, V.*
258210 G>AIN1delIVS1+1G>Adel ex1 or 153del57------BrazilianLinnebank, M.*
2596540del22EX4del493del22fs,del aa 165-172eye-vasccnsmoderatepartialDanishGaustadnes et al., 1998
2606643del29IN4delIVS4-31del 29del ex 5eye-vasc-severe-ArabianKozich et al., 1997b304 A>C; [K102Q]
261n.d.n.d.del533 del 18del aa 179-184eyeskelvasccnsmoderatepartialGerman/Polish,FrenchShih et al. 1995
262n.d.n.d.del739del 30del aa 247-256eyeskelvasccnsseverenonGermanKoch et al., 1994
2638276del3EX7del808del3del E270eyeskel-cns-nonGermanKoch et al., 1994
2648297 G>AIN7splicingIVS7+1 G>A828ins104, 737del92eyeskel-cnsseverenonCzechJanosik et al., 2001IVS11+39del99 [n.d.]
2659244G>AIN8otherIVS8+1G>Adel ex 8eye--cnsmoderate-DanishMacLean et al., 2002
266n.d.n.d.other955del85del ex 9------JapaneseChen et al. 1999
26713000del99IN11delIVS11+39del99n.d.eyeskel-cnsseverenonCzechJanosik et al., 2001IVS7+1 G>A [828ins104, 737del92]
26813130del49IN11delIVS11-89del49n.d.eyeskel---responsiveItalianSperandeo et al., 1995146 C>T; [P49L]
269n.d.n.d.other1146 del 78del ex 11------n.d.Kruger and Cox,1995
27013217 A>CIN11delMsp I+IVS11-2 A>Cdel ex 12eyeskel-cnsseverenonCzechJanosik et al., 2001
27113217 A>CIN11delMsp I+IVS11-2 A>Cdel ex 12eyeskel-cnsseverenonSlovakJanosik et al., 2001
27213217 A>CIN11delMsp I+IVS11-2 A>Cdel ex 12eyeskel-cnsmoderatepartialSlovakJanosik et al., 2001
27313217 A>CIN11delMsp I+IVS11-2 A>Cdel ex 12eyeskel-cnsseverenonSlovakJanosik et al., 2001
27413217 A>CIN11delMsp I+IVS11-2 A>Cdel ex 12eyeskel-cnsmoderatepartialCzechJanosik et al., 2001
27513217 A>CIN11delMsp I+IVS11-2 A>Cdel ex 12eyeskelvasccnsseverenonGermanKoch et al., 1994
27613217 A>CIN11delMsp I+IVS11-2 A>Cdel ex 12eyeskel--mildresponsiveJewishKozich and Kraus,1992
27713217 A>CIN11delMsp I+IVS11-2 A>Cdel ex 12eye-vasc-severeresponsive?Tsai M.Y. *
27813217 A>CIN11delMsp I+IVS11-2 A>Cdel ex 12eyeskelvasccnsseverenonGermanKoch et al. 1994
27913217 A>CIN11delMsp I+IVS11-2 A>Cdel ex 12eyeskelvasccnsseverenonGermanKoch et al. 1994
28013217 A>CIN11delMsp I+IVS11-2 A>Cdel ex 12-skel--mild-AustrianLinnebank, M.*
28113217 A>CIN11delMsp I+IVS11-2 A>Cdel ex 12eyeskel-cnsmoderatenonTurkishLinnebank, M.*
28213554 G>AIN12delSau3A I+IVS 12+1 G>Adel ex 12----moderateresponsiveEnglish, Irish, Dutch, GermanTsai et al., 1997a
28313933 G>CIVS12splicingIVS12-1 G>Cdel exon 13-skel-cnsseverenonTurkishLinnebank, M.*
28413933 G>CIVS12splicingIVS12-1 G>Cdel exon 13-skel-cnsseverenonTurkishLinnebank, M.*
28518213insACCACAGEX16other1559insACCACAGS520R, fs, stop at aa540eye-vasccns-n.d.S. Afr. BlackBen de Wet JM*
28618220delGEX16delNciI-1566delGfs, stop at aa 540eyeskelvasc-severepartialPortugueseCastro et al., 1999
28718220delGEX16delNciI-1566delGfs, stop at aa 540eyeskelvasc-severenonPortugueseCastro et al., 1999
28818220delGEX16delNciI-1566delGfs, stop at aa 540eyeskelvasc-severenonPortugueseCastro et al., 1999
28918244del4EX16del1590del41590delGTTC, fs------JapaneseChen et al. 1999
29018245del4EX16del1591del41591delTTCG, fs------JapaneseOhura,T.*
29118276ins4EX16ins1622ins41622insTGGA, fseyeskel--moderatenonSouth AfricanGordon et al., 1997
29218281del19EX16delSau96I-1627del19fs, stop at aa 568----severe-ArabianKozich et al., 1997b
29318281del19EX16delSau96I-1627del19fs, stop at aa 568----severe-ArabianKozich et al., 1997b
2943600 C>GEX2miss233 C>GP78R-skelvasccnssevereresponsiveIrishde Franchis et al., 1994
2956971 G>AEX6miss715 G>AE239K-skelvasccnssevereresponsiveIrishde Franchis et al., 1994
2969122 T>CEX8missBsr I+833 T>CI278TeyeskelvasccnssevereresponsiveItalianSebastio G.*
2975892 G>CEX3miss393 G>CE131D----moderatenonIrishMarble et al.,1994374 G>A; [R125Q]
2988265 G>AEX7miss797 G>AR266Keye---mildresponsiveNorwegianKim et al., 1997
2998265 G>AEX7miss797 G>AR266Keye-vasccnsmildresponsiveNorwegianKim et al., 1997
3009122 T>CEX8missBsr I+833 T>CI278Teyeskel--moderateresponsiveDutchKluijtmans et al. 1999
3013629 C>TEX2missMnl I+262 C>TP88Seyeskel--mildresponsiveItalianSebastio et al., 1995
3029122 T>CEX8missBsr I+833 T>CI278Teyeskel--mildresponsiveItalianSebastio et al., 1995
3039122 T>CEX8missBsr I+833 T>CI278Teyeskel--mildpartialDutchKluijtmans et al. 1999
3046510 G>AEX4missSau96 I+463 G>AA155Teyeskel-cnsmildpartialCzechJanosik et al., 2001430G>A;[E144K]
3059122 T>CEX8missBsr I+833 T>CI278T---cnsmoderateresponsiveNorwegianKim et al. 1997
30611711 C>TEX10missHha I-1105 C>TR369C---cnsmoderateresponsiveNorwegianKim et al., 1997CG>TG; *
3079193 G>AEX8miss904 G>AE302KeyeskelvasccnssevereresponsiveItaliande Franchis et al., 1999CG>CA
3085840 C>TEX3missMae II+341 C>TA114VeyeskelvasccnssevereresponsiveItaliande Franchis et al., 1999CG>TG
309n.d.n.d.del-del bp 153-209del aa 52-70----asymptomatic-French/Scottish, FrenchHu et al., 1993
3109208 G>AEX8missAlu I+919 G>AG307S----asymptomaticnonEnglishde-Franchis et al. 1999CG>CA
3119851 C>TEX9miss1006 C>TR336C----asymptomaticnonEnglishde-Franchis et al. 1999CG>TG; *
3123669 T>CEX2miss302 T>CL101P------IrishGallagher et al., 1998
3138253 C>TEX7miss785 C>TT262M------IrishGallagher et al., 1998CG>TG
3149122 T>CEX8missBsr I+833 T>CI278T------IrishGallagher P.M.*
315n.d.n.d.del-del ex 12, del ex 11 anddel ex 12, del ex 11 and------JapaneseChen et al. 1999
3169122 T>CEX8missBsr I+833 T>CI278TeyeskelvasccnsmoderatepartialGerman/Polish,FrenchShih et al. 1995
3175929 G>AEX3missTaq I-430 G>AE144Keyeskel-cnsmildpartialCzechJanosik et al., 2001463G>A;[A155T]CG>CA
3185929 G>AEX3missTaq I-430 G>AE144Keyeskel-cnsmildpartialCzechJanosik et al., 2001463G>A;[A155T]CG>CA
3195840 C>TEX3missMae II+341 C>TA114V-skelvasccnsseverepartialCzechKozich et al., 1997bCG>TG
32019insCEX1ins19insCfs, stop at aa 36eyeskel-cnsseverenonSlovakJanosik et al., 2001
3216541 G>AEX4missBsoF I-494 G>AC165Yeyeskel-cnsseverenonCzechJanosik et al., 2001
3226541 G>AEX4missBsoF I-494 G>AC165Yeyeskel-cnsseverenonCzechJanosik et al., 2001
32328delGEX1del28delGfs, stop at aa 81eyeskelvasccnsseverenonCzechJanosik et al., 2001
3243576 G>CIN1splicingIVS1-1G>C210del26, fs stop at aa 9eyeskelvasccnsseverenonCzechJanosik et al., 2001
325194 A>GEX1miss194 A>GH65Reyeskel-cnsseverenonCzechJanosik et al., 2001
3266510 G>AEX4missSau96 I+463 G>AA155Teyeskel--severenonCzechJanosik et al., 2001430G>A;[E144K]
3275929 G>AEX3missTaq I-430 G>AE144Keyeskel--severenonCzechJanosik et al., 2001463G>A;[A155T]CG>CA
32813217 A>CIN11delMsp I+IVS11-2 A>Cdel ex 12eyeskel--severenonCzechJanosik et al., 2001
32913217 A>CIN11delMsp I+IVS11-2 A>Cdel ex 12eyeskel-cnsmoderatepartialSlovakJanosik et al., 2001
3309122 T>CEX8missBsr I+833 T>CI278Teyeskel-cnsmoderatepartialSlovakJanosik et al., 2001
3319122 T>CEX8missBsr I+833 T>CI278Teye-vasc-mildresponsiveCzechJanosik et al., 2001
3329122 T>CEX8missBsr I+833 T>CI278Teye-vasc-mildresponsiveCzechJanosik et al., 2001
3335873 G>CEX3missHpa II+374 G>CR125Peyeskelvasc-severepartialPortuguesCastro et al., 1999CG>CC
33428delGEX1del28delGfs, stop at aa 81eyeskelvasccnsseverenonCzechJanosik et al., 2001
3353576 G>CIN1splicingIVS1-1G>C210del26, fs stop at aa 9eyeskelvasccnsseverenonCzechJanosik et al., 2001
33613217 A>CIN11delMsp I+IVS11-2 A>Cdel ex 12eyeskel-cnsmoderatepartialSlovakJanosik et al., 2001
3379122 T>CEX8missBsr I+833 T>CI278Teyeskel-cnsmoderatepartialSlovakJanosik et al., 2001
33813260 C>TEX12miss1265 C>TP422L--vasc-mildnonDanishMaclean et al. 2002CG>TG
33913325 G>AEX12missTaq I-1330 G>AD444N--vasc-mildnonDanishGaustadnes et al. 2000CG>CA
3408253 C>GEX7miss785 C>GT262R------ArabicGat-Yablonski et al. 2000CG>GG
34118327del5EX17splicing1673del5n.d.------ArabicGat-Yablonski et al. 2000
34211664 C>TEX10miss1058 C>TT353M---cns-nonAfrican AmericanKruger et al. 2003CG>TG
34311664 C>TEX10miss1058 C>TT353M---cns-nonAfrican AmericanKruger et al. 2003CG>TG
34411664 C>TEX10miss1058 C>TT353Meye-vasccns-responsiveAfrican AmericanKruger et al. 2003CG>TG
3456932 G>AEX6miss676 G>AA226Teye-vasccns-responsiveAfrican AmericanKruger et al. 2003CG>CA
34611664 C>TEX10miss1058 C>TT353M--vasc--nonAfrican AmericanKruger et al. 2003CG>TG
34711664 C>TEX10miss1058 C>TT353M-----nonAfrican AmericanKruger et al. 2003CG>TG
34818230 C>AEX16miss1576 C>AQ526K-----nonAfrican AmericanKruger et al. 2003
3498204 G>CIN6splicingIVS6-1 G>Cn.d.eye-vasccns-noncaucasianKruger et al. 2003
3509208 G>AEX8missAlu I+919 G>AG307Seye-vasccns-noncaucasianKruger et al. 2003CG>CA
3516939 A>GEX6miss683 A>GN228Seye-vasccns-noncaucasianKruger et al. 2003
35211732 G>AEX10miss1126 G>AD376N------caucasianKruger et al. 2003CG>CA
3536947 G>CEX6miss691 G>CA231Leye----partialcaucasianKruger et al. 2003
3549208 G>AEX8missAlu I+919 G>AG307S------n.d.Kraus, JP*CG>CA
3559208 G>AEX8missAlu I+919 G>AG307S------n.d.Kraus, JP*CG>CA
35613325 G>AEX12missTaq I-1330 G>AD444N------n.d.Kraus, JP*CG>CA
3579122 T>CEX8missBsr I+833 T>CI278Teye--cns-responsiven.d.Kraus, JP*
3589122 T>CEX8missBsr I+833 T>CI278T------n.d.Kraus, JP*
3599122 T>CEX8missBsr I+833 T>CI278Teye--cns-nonn.d.Kraus, JP*
3609208 G>AEX8missAlu I+919 G>AG307Seye--cns-nonn.d.Kraus, JP*CG>CA
3619122 T>CEX8missBsr I+833 T>CI278T------n.d.Kraus, JP*
3629208 G>AEX8missAlu I+919 G>AG307S-----nonn.d.Kraus, JP*CG>CA
3639208 G>AEX8missAlu I+919 G>AG307S-----nonn.d.Kraus, JP*CG>CA
3649122 T>CEX8missBsr I+833 T>CI278Teyeskel-cns-nonn.d.Kraus, JP*
3659122 T>CEX8missBsr I+833 T>CI278T-----nonn.d.Kraus, JP*
3669122 T>CEX8missBsr I+833 T>CI278T------n.d.Kraus, JP*
3679122 T>CEX8missBsr I+833 T>CI278T------n.d.Kraus, JP*
3689208 G>AEX8missAlu I+919 G>AG307S------n.d.Kraus, JP*CG>CA
3698253 C>TEX7miss785 C>TT262M------n.d.Kraus, JP*CG>TG
3708253 C>TEX7miss785 C>TT262M------n.d.Kraus, JP*CG>TG
3719122 T>CEX8missBsr I+833 T>CI278T------n.d.Kraus, JP*
3729122 T>CEX8missBsr I+833 T>CI278T------n.d.Kraus, JP*
3739122 T>CEX8missBsr I+833 T>CI278T------n.d.Kraus, JP*
3749122 T>CEX8missBsr I+833 T>CI278T------n.d.Kraus, JP*
3755873 G>AEX3missPst I+374 G>AR125Q------n.d.Kraus, JP*CG>CA
3765873 G>AEX3missPst I+374 G>AR125Q------n.d.Kraus, JP*CG>CA
3775840 C>TEX3missMae II+341 C>TA114V------n.d.Kraus, JP*CG>TG
3789122 T>CEX8missBsr I+833 T>CI278T------n.d.Kraus, JP*
3799122 T>CEX8missBsr I+833 T>CI278T------n.d.Kraus, JP*
3809208 G>AEX8missAlu I+919 G>AG307S------n.d.Kraus, JP*CG>CA
3819122 T>CEX8missBsr I+833 T>CI278T------n.d.Kraus, JP*
3829122 T>CEX8missBsr I+833 T>CI278T------n.d.Kraus, JP*
3839122 T>CEX8missBsr I+833 T>CI278T------n.d.Kraus, JP*
3849122 T>CEX8missBsr I+833 T>CI278T------n.d.Kraus, JP*
3858265 G>AEX7miss797 G>AR266K------n.d.Kraus, JP*
3869208 G>AEX8missAlu I+919 G>AG307S------n.d.Kraus, JP*CG>CA
3879122 T>CEX8missBsr I+833 T>CI278T------n.d.Kraus, JP*
3889122 T>CEX8missBsr I+833 T>CI278T------n.d.Kraus, JP*
3899122 T>CEX8missBsr I+833 T>CI278T------n.d.Kraus, JP*
3909122 T>CEX8missBsr I+833 T>CI278Teye--cnsmoderateresponsiven.d.Kraus, JP*
3919208 G>AEX8missAlu I+919 G>AG307Seyeskel-cns-nonn.d.Kraus, JP*CG>CA
3925929 G>AEX3missTaq I-430 G>AE144Keyeskel-cns-nonn.d.Kraus, JP*CG>CA
3939122 T>CEX8missBsr I+833 T>CI278Teye----responsiven.d.Kraus, JP*
3949122 T>CEX8missBsr I+833 T>CI278Teye----responsiven.d.Kraus, JP*
3955873 G>AEX3missPst I+374 G>AR125Q-----partialn.d.Kraus, JP*CG>CA
3965873 G>AEX3missPst I+374 G>AR125Qeyeskelvasccns-partialn.d.Kraus, JP*CG>CA
3979122 T>CEX8missBsr I+833 T>CI278Teyeskel-cns-nonn.d.Kraus, JP*
3989208 G>AEX8missAlu I+919 G>AG307Seyeskel-cns-nonn.d.Kraus, JP*CG>CA
3999122 T>CEX8missBsr I+833 T>CI278T--vasc--responsiven.d.Kraus, JP*
4009208 G>AEX8missAlu I+919 G>AG307Seye----responsiven.d.Kraus, JP*CG>CA
4019208 G>AEX8missAlu I+919 G>AG307S------n.d.Kraus, JP*CG>CA
4029208 G>AEX8missAlu I+919 G>AG307Seye--cns-nonanglo-celticGaustadnes et al., 2002CG>CA
4039208 G>AEX8missAlu I+919 G>AG307Seye--cns-nonanglo-celticGaustadnes et al., 2002CG>CA
4049208 G>AEX8missAlu I+919 G>AG307Seyeskel-cns-nonanglo-celticGaustadnes et al., 2002CG>CA
4059208 G>AEX8missAlu I+919 G>AG307Seyeskel-cns-nonanglo-celticGaustadnes et al., 2002CG>CA
4069208 G>AEX8missAlu I+919 G>AG307Seye----nonanglo-celticGaustadnes et al., 2002CG>CA
4079208 G>AEX8missAlu I+919 G>AG307Seye----nonanglo-celticGaustadnes et al., 2002CG>CA
4089208 G>AEX8missAlu I+919 G>AG307Seyeskel-cns-nonanglo-celticGaustadnes et al., 2002CG>CA
4099208 G>AEX8missAlu I+919 G>AG307S--vasc--nonanglo-celticGaustadnes et al., 2002CG>CA
4109208 G>AEX8missAlu I+919 G>AG307Seyeskel---nonanglo-celticGaustadnes et al., 2002CG>CA
4116541 G>AEX4missBsoF I-494 G>AC165Yeyeskel---nonanglo-celticGaustadnes et al., 2002
4129208 G>AEX8missAlu I+919 G>AG307S-----nonanglo-celticGaustadnes et al., 2002CG>CA
4139851 C>TEX9miss1006 C>TR336C------anglo-celticGaustadnes et al., 2002CG>TG; *
4149208 G>AEX8missAlu I+919 G>AG307Seyeskel-cns-nonanglo-celticGaustadnes et al., 2002CG>CA
415n.d.n.d.del533 del 18del aa 179-184eyeskel-cns--anglo-celticGaustadnes et al., 2002
4169122 T>CEX8missBsr I+833 T>CI278T-skel---responsiveanglo-celticGaustadnes et al., 2002
4179122 T>CEX8missBsr I+833 T>CI278T-skel---responsiveanglo-celticGaustadnes et al., 2002
4189122 T>CEX8missBsr I+833 T>CI278Teye----responsiveanglo-celticGaustadnes et al., 2002
4193669 T>CEX2miss302 T>CL101Peye----responsiveanglo-celticGaustadnes et al., 2002
4209122 T>CEX8missBsr I+833 T>CI278Teye----responsiveanglo-celticGaustadnes et al., 2002
4215824 T>CEX3miss325 T>CC109Reye----responsiveanglo-celticGaustadnes et al., 2002
4229122 T>CEX8missBsr I+833 T>CI278T-skel-cns-responsiveanglo-celticGaustadnes et al., 2002
4239244G>AIN8otherIVS8+1G>Adel ex 8-skel-cns-responsiveanglo-celticGaustadnes et al., 2002
4249122 T>CEX8missBsr I+833 T>CI278Teyeskel---responsiveanglo-celticGaustadnes et al., 2002
425210insCIN1insIVS1+1insCdel ex 1 (?)eyeskel---responsiveanglo-celticGaustadnes et al., 2002
4269122 T>CEX8missBsr I+833 T>CI278T-----responsiveanglo-celticGaustadnes et al., 2002
42712959delCEX11del1221delCW408fsX423-----responsiveanglo-celticGaustadnes et al., 2002
4289122 T>CEX8missBsr I+833 T>CI278Teye----responsiveanglo-celticGaustadnes et al., 2002
4299884 G>AEX9miss1039 G>AG347Seye----responsiveanglo-celticGaustadnes et al., 2002CG>CA
4309122 T>CEX8missBsr I+833 T>CI278Teyeskel-cns-responsiveanglo-celticGaustadnes et al., 2002
4315873 G>AEX3missPst I+374 G>AR125Qeye----nonPortugueseGaustadnes et al., 2002CG>CA
4325873 G>AEX3missPst I+374 G>AR125Qeye-vasccns-nonPortugueseGaustadnes et al., 2002CG>CA
4335929 G>AEX3missTaq I-430 G>AE144K----moderateresponsiveanglo-celticGaustadnes et al., 2002CG>CA
434146 C>TEX1missDde I+146 C>TP49L----moderateresponsiveanglo-celticGaustadnes et al., 2002CG>TG
4355929 G>AEX3missTaq I-430 G>AE144Keye--cnsmoderatepartialanglo-celticGaustadnes et al., 2002CG>CA
43611717 G>AEX10miss1111 G>AV371Meye--cnsmoderatepartialanglo-celticGaustadnes et al., 2002CG>CA
4375929 G>AEX3missTaq I-430 G>AE144Keyeskel-cns-nonanglo-celticGaustadnes et al., 2002CG>CA
438210 G>AIN1delIVS1+1G>Adel ex1 or 153del57eyeskel-cnsseverenonanglo-celticGaustadnes et al., 2002
4395929 G>AEX3missTaq I-430 G>AE144Keyeskel-cns-nonanglo-celticGaustadnes et al., 20021316 G>A;[R439Q]CG>CA
44013311 G>AEX12missEcoR II+, Msp I-1316 G>AR439Qeyeskel-cns-nonanglo-celticGaustadnes et al., 2002430 G>A;[E144K]CG>CA
4419193 G>AEX8miss904 G>AE302Keyeskel-cns-nonanglo-celticGaustadnes et al., 2002CG>CA
4425941insGEX3ins442insGN149fsX187------AustralianGaustadnes et al., 2002
4439181insCEX8ins892insCQ298fsX329eyeskel-cnsmildpartialAustralianGaustadnes et al., 2002
4446940 C>AEX6miss684 C>AN228Keyeskel-cns-nonanglo-celticGaustadnes et al., 2002
44511752 G>AIN11otherIVS11+1G>Adel aa382-407eyeskel-cns-nonanglo-celticGaustadnes et al., 2002
4465824 T>CEX3miss325 T>CC109Reye--cns-nonanglo-celticGaustadnes et al., 2002
44713942 T>CEX13miss1367 T>CL456Peyeskel-cnsseverenonspanishUrreizti et al., 2003
44813942 T>CEX13miss1367 T>CL456Peyeskel-cnsseverenonspanishUrreizti et al., 2003
4499851 C>TEX9miss1006 C>TR336Ceyeskel-cnssevere-spanishUrreizti et al., 2003CG>TG; *
4509851 C>TEX9miss1006 C>TR336Ceyeskel-cnssevere-spanishUrreizti et al., 2003CG>TG; *
4519851 C>TEX9miss1006 C>TR336Ceyeskel-cnsmoderatenonspanishUrreizti et al., 2003CG>TG; *
45218220delGEX16delNciI-1566delGfs, stop at aa 540eyeskel-cnsmoderatenonspanishUrreizti et al., 2003
45318220delGEX16delNciI-1566delGfs, stop at aa 540eyeskelvasccnsseverenonspanishUrreizti et al., 2003
45411742 G>AEX10miss1136 G>AR379QeyeskelvasccnsseverenonspanishUrreizti et al., 2003CG>CA
45511652 G>AEX10miss1046 G>AS349NeyeskelvasccnsseverenonspanishUrreizti et al., 2003
45611652 G>AEX10miss1046 G>AS349NeyeskelvasccnsseverenonspanishUrreizti et al., 2003
45711652 G>AEX10miss1046 G>AS349Neye-vasc-mildnonspanishUrreizti et al., 2003
458210 G>AIN1delIVS1+1G>Adel ex1 or 153del57eye-vasc-mildnonspanishUrreizti et al., 2003
4596714 C>TEX5missFokI+572 C>TT191Meye---mildnonspanishUrreizti et al., 2003CG>TG
4605872 C>TEX3missAci I -373 C>TR125Weye---mildnonspanishUrreizti et al., 2003CG>TG
4616714 C>TEX5missFokI+572 C>TT191MeyeskelvasccnsseverenonspanishUrreizti et al., 2003CG>TG
4625872 C>TEX3missAci I -373 C>TR125WeyeskelvasccnsseverenonspanishUrreizti et al., 2003CG>TG
4636714 C>TEX5missFokI+572 C>TT191Meyeskel-cnsseverenonspanishUrreizti et al., 2003CG>TG
4646714 C>TEX5missFokI+572 C>TT191Meyeskel-cnsseverenonspanishUrreizti et al., 2003CG>TG
4656714 C>TEX5missFokI+572 C>TT191MeyeskelvasccnsmildnonPortugueseUrreizti et al., 2003CG>TG
4666714 C>TEX5missFokI+572 C>TT191Meye-vasccnsmildnonPortugueseUrreizti et al., 2003CG>TG
4676714 C>TEX5missFokI+572 C>TT191Meyeskelvasc-severenonspanishUrreizti et al., 2003CG>TG
4686714 C>TEX5missFokI+572 C>TT191Meyeskel-cnsmoderatenonspanishUrreizti et al., 2003CG>TG
4696714 C>TEX5missFokI+572 C>TT191Meye---mildnonspanishUrreizti et al., 2003CG>TG
4708292 G>AEX7miss824 G>AC275Yeye-vasc-severenonspanishUrreizti et al., 2003
4719122 T>CEX8missBsr I+833 T>CI278T------germanLinnebank, M.*
4729122 T>CEX8missBsr I+833 T>CI278T------germanLinnebank, M.*
4739122 T>CEX8missBsr I+833 T>CI278T------n.d.Linnebank, M.*
4749122 T>CEX8missBsr I+833 T>CI278T------n.d.Linnebank, M.*
4759122 T>CEX8missBsr I+833 T>CI278T------germanLinnebank, M.*
4769122 T>CEX8missBsr I+833 T>CI278T------germanLinnebank, M.*
47711664 C>TEX10miss1058 C>TT353M------germanLinnebank, M.*CG>TG
4789122 T>CEX8missBsr I+833 T>CI278T------germanLinnebank, M.*
479194 A>GEX1miss194 A>GH65R------germanLinnebank, M.*
4809122 T>CEX8missBsr I+833 T>CI278T------germanLinnebank, M.*
4819122 T>CEX8missBsr I+833 T>CI278T------germanLinnebank, M.*
4829122 T>CEX8missBsr I+833 T>CI278Teyeskel-cnsmoderatepartialgermanLinnebank, M.*
483210 G>AIN1delIVS1+1G>Adel ex1 or 153del57eyeskel-cnsmoderatepartialgermanLinnebank, M.*
4849122 T>CEX8missBsr I+833 T>CI278Teye---mildpartialgermanLinnebank, M.*
4858238 C>TEX7missNla III+770 C>TT257Meye---mildpartialgermanLinnebank, M.*CG>TG
4869122 T>CEX8missBsr I+833 T>CI278T------germanLinnebank, M.*
4875872 C>TEX3missAci I -373 C>TR125W------germanLinnebank, M.*CG>TG
4889122 T>CEX8missBsr I+833 T>CI278T------germanLinnebank, M.*
4898208del25EX7del740del25del aa 247-255------germanLinnebank, M.*
4909122 T>CEX8missBsr I+833 T>CI278T------germanLinnebank, M.*
4919122 T>CEX8missBsr I+833 T>CI278Teyeskel--mildpartialgermanLinnebank, M.*
4928238 C>TEX7missNla III+770 C>TT257Meyeskel--mildpartialgermanLinnebank, M.*CG>TG
4939122 T>CEX8missBsr I+833 T>CI278T------croatianLinnebank, M.*
49413217 A>CIN11delMsp I+IVS11-2 A>Cdel ex 12------croatianLinnebank, M.*
4955824 T>CEX3miss325 T>CC109R---cns-nonanglo-celticGaustadnes et al., 2002
496n.d.n.d.del533 del 18del aa 179-184---cns-nonanglo-celticGaustadnes et al., 2002
49711711 C>TEX10missHha I-1105 C>TR369C--vasccns-responsiveanglo-celticGaustadnes et al., 2002CG>TG; *
49819insCEX1ins19insCfs, stop at aa 36---cns-nonlebaneseGaustadnes et al., 2002
49919insCEX1ins19insCfs, stop at aa 36---cns-nonlebaneseGaustadnes et al., 2002
50013217 A>CIN11delMsp I+IVS11-2 A>Cdel ex 12eyeskelvasccnsseverenonPolishOrendac et al., 2004
5015928 C>GEX3missTaqI-429 C>GI143MeyeskelvasccnsseverenonPolishOrendac et al., 2004CG>GG
5025928 C>GEX3missTaqI-429 C>GI143MeyeskelvasccnsseverenonPolishOrendac et al., 2004CG>GG
50313217 A>CIN11delMsp I+IVS11-2 A>Cdel ex 12eyeskelvasccnsseverenonPolishOrendac et al., 2004
5046940 C>AEX6miss684 C>AN228KeyeskelvasccnsseverenonPolishOrendac et al., 2004
5056940 C>AEX6miss684 C>AN228KeyeskelvasccnsseverenonPolishOrendac et al., 2004
5069122 T>CEX8missBsr I+833 T>CI278TeyeskelvasccnsseverenonPolishOrendac et al., 2004
50713217 A>CIN11delMsp I+IVS11-2 A>Cdel ex 12eyeskelvasccnsseverenonPolishOrendac et al., 2004
5085941 G>AEX3missMsp I-,BstN I+442 G>AG148R--vasccnsseverenonPolishOrendac et al., 2004CG>CA
5095941 G>AEX3missMsp I-,BstN I+442 G>AG148R--vasccnsseverenonPolishOrendac et al., 2004CG>CA
5109885 G>TIN9splicingHphI-IVS9+1 G>Tdel ex 9, T318fsX330-----nonPolishOrendac et al., 2004
5119885 G>TIN9splicingHphI-IVS9+1 G>Tdel ex 9, T318fsX330-----nonPolishOrendac et al., 2004
5129858 T>CEX9missPvuI+1013 T>CL338PeyeskelvasccnsseverenonSpanishUrreizti et al., 2003
5139858 T>CEX9missPvuI+1013 T>CL338PeyeskelvasccnsseverenonSpanishUrreizti et al., 2003
5146714 C>TEX5missFokI+572 C>TT191Meye-vasc-severenonspanishUrreizti et al., 2003CG>TG
5156714 C>TEX5missFokI+572 C>TT191Meye---mildnonspanishUrreizti et al., 2003CG>TG
5166714 C>TEX5missFokI+572 C>TT191Meyeskel-cnsmoderatenonspanishUrreizti et al., 2003CG>TG
5176714 C>TEX5missFokI+572 C>TT191Meyeskelvasc-severenonspanishUrreizti et al., 2003CG>TG
5186714 C>TEX5missFokI+572 C>TT191Meyeskel-cnsseverenonPortugueseUrreizti et al., 2003CG>TG
5196714 C>TEX5missFokI+572 C>TT191Meyeskel-cnsseverenonPortugueseUrreizti et al., 2003CG>TG
5206714 C>TEX5missFokI+572 C>TT191MeyeskelvasccnsseverenonspanishUrreizti et al., 2003CG>TG
5216714 C>TEX5missFokI+572 C>TT191MeyeskelvasccnsseverenonspanishUrreizti et al., 2003CG>TG
5226939 A>GEX6miss683 A>GN228Seye-vasccns-noncaucasianKruger et al., 2003
5239122 T>CEX8missBsr I+833 T>CI278T------caucasianKruger et al., 2003
5249122 T>CEX8missBsr I+833 T>CI278Teye----partialcaucasianKruger et al., 2003
5259804 T>CEX9miss959 T>CV320Aeye--cnsmoderatenoncaucasianKruger et al., 2003
5269804 T>CEX9miss959 T>CV320Aeye--cnsmoderatenoncaucasianKruger et al., 2003
5279122 T>CEX8missBsr I+833 T>CI278T-----partialcaucasianKruger et al., 2003
5286947 G>CEX6miss691 G>CA231L-----partialcaucasianKruger et al., 2003
5293669 T>CEX2miss302 T>CL101Peye-vasc--noncaucasianKruger et al., 2003
5309122 T>CEX8missBsr I+833 T>CI278Teye-vasc--noncaucasianKruger et al., 2003
5319122 T>CEX8missBsr I+833 T>CI278Teye-vasc--responsivecaucasianKruger et al., 2003
5329122 T>CEX8missBsr I+833 T>CI278Teye-vasc--responsivecaucasianKruger et al., 2003
5339122 T>CEX8missBsr I+833 T>CI278Teyeskel-cnsmoderateresponsiveSouth AmerindianVania DAlmeida et al., 2003
5349122 T>CEX8missBsr I+833 T>CI278T---cnsmildresponsiveBrazilianVania DAlmeida et al., 2003
5359122 T>CEX8missBsr I+833 T>CI278T-skel--asymptomaticnonPortugueseVania DAlmeida et al., 2003
5369122 T>CEX8missBsr I+833 T>CI278Teyeskel--mildnonPortugueseVania DAlmeida et al., 2003
5379122 T>CEX8missBsr I+833 T>CI278Teyeskel-cnsmildnonPortugueseVania DAlmeida et al., 2003
5389122 T>CEX8missBsr I+833 T>CI278Teye--cnsmoderatenonBrazilianVania DAlmeida et al., 2003
5396983 C>TEX6nonsFnu4HI-727 C>TQ243Xeyeskel-cns--VenezuelanDe Lucca et al., 2004
5403620 G>AEX2miss253 G>AG85Reyeskel-cnsmildpartialVenezuelanDe Lucca et al., 2004CG>CA
54113325 G>AEX12missTaq I-1330 G>AD444Neye----PortugueseDe Lucca et al., 2004CG>CA
54213325 G>AEX12missTaq I-1330 G>AD444Neye----PortugueseDe Lucca et al., 2004CG>CA
5433620 G>AEX2miss253 G>AG85Reyeskel-cnsmildpartialVenezuelanDe Lucca et al., 2004CG>CA
5446956 G>AEX6miss700 G>AD234Neyeskel----VenezuelanDe Lucca et al., 2004CG>CA
5456956 G>AEX6miss700 G>AD234Neyeskel----VenezuelanDe Lucca et al., 2004CG>CA
5466714 C>TEX5missFokI+572 C>TT191Meyeskel-cns-partialVenezuelan, IndigenousDe Lucca et al., 2004CG>TG
5476714 C>TEX5missFokI+572 C>TT191Meyeskel-cns-partialVenezuelan, IndigenousDe Lucca et al., 2004CG>TG
5483627 C>AEX2missMslI-260 C>AT87Neyeskelvasccnsmoderate-VenezuelanMarisel De Lucca *
5493620 G>AEX2miss253 G>AG85Reyeskelvasccnsmoderate-VenezuelanMarisel De Lucca *CG>CA
5506714 C>TEX5missFokI+572 C>TT191M------FrenchRedonnet-Vernhet et al., 2005CG>TG
5516714 C>TEX5missFokI+572 C>TT191M------FrenchRedonnet-Vernhet et al., 2005CG>TG
5526714 C>TEX5missFokI+572 C>TT191M------FrenchRedonnet-Vernhet et al., 2005CG>TG
5536714 C>TEX5missFokI+572 C>TT191M------FrenchRedonnet-Vernhet et al., 2005CG>TG
5546714 C>TEX5missFokI+572 C>TT191M------FrenchRedonnet-Vernhet et al., 2005CG>TG
5556714 C>TEX5missFokI+572 C>TT191M------FrenchRedonnet-Vernhet et al., 2005CG>TG
5566714 C>TEX5missFokI+572 C>TT191M------FrenchRedonnet-Vernhet et al., 2005CG>TG
5579122 T>CEX8missBsr I+833 T>CI278T------FrenchRedonnet-Vernhet et al., 2005
5586504 G>AEX4miss457 G>AG153R------FrenchRedonnet-Vernhet et al., 2005
5596504 G>AEX4miss457 G>AG153R------FrenchRedonnet-Vernhet et al., 2005
5606585EX4miss488Y163R------FrenchRedonnet-Vernhet et al., 2005
5618292 G>AEX7miss824 G>AC275Y------FrenchRedonnet-Vernhet et al., 2005
5625950 G>AEX3miss451 G>AG151R------FrenchRedonnet-Vernhet et al., 2005CG>CA
5635845 G>AEX3miss346 G>AG116R------FrenchRedonnet-Vernhet et al., 2005CG>CA
5648253 C>TEX7miss785 C>TT262M------FrenchRedonnet-Vernhet et al., 2005CG>TG
5659193 G>AEX8miss904 G>AE302K------FrenchRedonnet-Vernhet et al., 2005CG>CA
5669193 G>AEX8miss904 G>AE302K------FrenchRedonnet-Vernhet et al., 2005CG>CA
5676579 G>AIVS4splicingIVS4+1 G>An.d.eye-vasc-mild-DanishSkovby*
56813325 G>AEX12missTaq I-1330 G>AD444Neye-vasc-mild-DanishSkovby*CG>CA
5696714 C>TEX5missFokI+572 C>TT191M------ColombianUrreizti et al., 2006CG>TG
5706714 C>TEX5missFokI+572 C>TT191M------ColombianUrreizti et al., 2006CG>TG
5716714 C>TEX5missFokI+572 C>TT191M------ColombianUrreizti et al., 2006CG>TG
5726714 C>TEX5missFokI+572 C>TT191M------ColombianUrreizti et al., 2006CG>TG
5736714 C>TEX5missFokI+572 C>TT191M------ColombianUrreizti et al., 2006CG>TG
5746714 C>TEX5missFokI+572 C>TT191M------ColombianUrreizti et al., 2006CG>TG
5756714 C>TEX5missFokI+572 C>TT191M------ColombianUrreizti et al., 2006CG>TG
5766714 C>TEX5missFokI+572 C>TT191M------ColombianUrreizti et al., 2006CG>TG
5776714 C>TEX5missFokI+572 C>TT191M------ColombianUrreizti et al., 2006CG>TG
5786714 C>TEX5missFokI+572 C>TT191M------ColombianUrreizti et al., 2006CG>TG
5796714 C>TEX5missFokI+572 C>TT191M------ColombianUrreizti et al., 2006CG>TG
5806714 C>TEX5missFokI+572 C>TT191M------ColombianUrreizti et al., 2006CG>TG
5819151 G>AEX8miss862 G>AA288Teyeskel-cnssevere-ColombianBermudez et al., 2006CG>CA
5825861 G>AEX3miss362 G>AR121Heyeskel-cnssevere-ColombianBermudez et al., 2006CG>CA; *
5836714 C>TEX5missFokI+572 C>TT191Meyeskelvasccnssevere-ColombianBermudez et al., 2006CG>TG
5846714 C>TEX5missFokI+572 C>TT191Meyeskelvasccnssevere-ColombianBermudez et al., 2006CG>TG
5856714 C>TEX5missFokI+572 C>TT191Meyeskelvasccnssevere-ColombianBermudez et al., 2006CG>TG
5866714 C>TEX5missFokI+572 C>TT191Meyeskelvasccnssevere-ColombianBermudez et al., 2006CG>TG
5876714 C>TEX5missFokI+572 C>TT191Meyeskelvasccnssevere-ColombianBermudez et al., 2006CG>TG
5886714 C>TEX5missFokI+572 C>TT191Meyeskelvasccnssevere-ColombianBermudez et al., 2006CG>TG
5896714 C>TEX5missFokI+572 C>TT191Meyeskel-cnsmoderate-ColombianBermudez et al., 2006CG>TG
5906714 C>TEX5missFokI+572 C>TT191Meyeskel-cnsmoderate-ColombianBermudez et al., 2006CG>TG
5916714 C>TEX5missFokI+572 C>TT191Meyeskel-cnsmoderate-ColombianBermudez et al., 2006CG>TG
5926714 C>TEX5missFokI+572 C>TT191Meyeskel-cnsmoderate-ColombianBermudez et al., 2006CG>TG
5936714 C>TEX5missFokI+572 C>TT191Meyeskel-cnsmoderate-ColombianBermudez et al., 2006CG>TG
5946714 C>TEX5missFokI+572 C>TT191Meyeskel-cnsmoderate-ColombianBermudez et al., 2006CG>TG
5956714 C>TEX5missFokI+572 C>TT191Meyeskel-cnsmoderate-ColombianBermudez et al., 2006CG>TG
5966714 C>TEX5missFokI+572 C>TT191Meyeskel-cnsmoderate-ColombianBermudez et al., 2006CG>TG
5976714 C>TEX5missFokI+572 C>TT191M------SpanishUrreizti et al., 2006CG>TG
5986714 C>TEX5missFokI+572 C>TT191M------SpanishUrreizti et al., 2006CG>TG
5996714 C>TEX5missFokI+572 C>TT191M------SpanishUrreizti et al. 2006CG>TG
6006714 C>TEX5missFokI+572 C>TT191M------SpanishUrreizti et al. 2006CG>TG
6016714 C>TEX5missFokI+572 C>TT191M------SpanishUrreizti et al. 2006CG>TG
6026714 C>TEX5missFokI+572 C>TT191M------SpanishUrreizti et al. 2006CG>TG
6036714 C>TEX5missFokI+572 C>TT191M------SpanishUrreizti et al. 2006CG>TG
6046714 C>TEX5missFokI+572 C>TT191M------SpanishUrreizti et al. 2006CG>TG
6056714 C>TEX5missFokI+572 C>TT191M------SpanishUrreizti et al. 2006CG>TG
6066714 C>TEX5missFokI+572 C>TT191M------SpanishUrreizti et al. 2006CG>TG
6076714 C>TEX5missFokI+572 C>TT191M------SpanishUrreizti et al. 2006CG>TG
6086714 C>TEX5missFokI+572 C>TT191M------SpanishUrreizti et al. 2006CG>TG
6096714 C>TEX5missFokI+572 C>TT191M------SpanishUrreizti et al. 2006CG>TG
6106714 C>TEX5missFokI+572 C>TT191M------SpanishUrreizti et al. 2006CG>TG
6116714 C>TEX5missFokI+572 C>TT191M------SpanishUrreizti et al. 20061330 G>A; [D444N]CG>TG
61213325 G>AEX12missTaq I-1330 G>AD444N------SpanishUrreizti et al. 2006572 C>T; [T191M]CG>CA
6136714 C>TEX5missFokI+572 C>TT191M------PortugueseUrreizti et al. 2006CG>TG
6146714 C>TEX5missFokI+572 C>TT191M------PortugueseUrreizti et al. 2006CG>TG
6156714 C>TEX5missFokI+572 C>TT191M------ArgentinianUrreizti et al. 2006CG>TG
6166714 C>TEX5missFokI+572 C>TT191M------ArgentinianUrreizti et al. 2006CG>TG
6176714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6186714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6196714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6206714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6216714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6226714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6236714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6246714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6256714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6266714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6276714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6286714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6296714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6306714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6316714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6326714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6336714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6346714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6356714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6366714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6376714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6386714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6396714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6406714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6416714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6426714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6436714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6446714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6456714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6466714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6476714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6486714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6496714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6506714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6516714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6526714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6536714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6546714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6556714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6566714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6576714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6586714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6596714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6606714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6616714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6626714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6636714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6646714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6656714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6666714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6676714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6686714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6696714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6706714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6716714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6726714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6736714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6746714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6756714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6766714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6776714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6786714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6796714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6806714 C>TEX5missFokI+572 C>TT191M------BrazilianUrreizti et al. 2006CG>TG
6819852 G>AEX9missSph I-1007 G>AR336Heyeskel----ItalianEvangelisti et al. 2008CG>CA; *
6826516 G>CEX4miss469 G>CA157Peyeskelvasc---ItalianEvangelisti et al. 2008
6839208 G>AEX8missAlu I+919 G>AG307Seyeskelvasc---ItalianEvangelisti et al. 2008CG>CA
6849122 T>CEX8missBsr I+833 T>CI278T-skelvasc---ArgentinianEvangelisti et al. 2008
68513281_13283delEX12del1286_1288delTCAI429del,fs-skelvasc---ArgentinianEvangelisti et al. 2008
686146 C>TEX1missDde I+146 C>TP49Leyeskelvasc---ItalianEvangelisti et al. 2008CG>TG
68713554 G>AIN12delSau3A I+IVS 12+1 G>Adel ex 12eyeskelvasc---ItalianEvangelisti et al. 2008
6885873 G>AEX3missPst I+374 G>AR125Qeyeskelvasc---ItalianEvangelisti et al. 2008CG>CA
6899122 T>CEX8missBsr I+833 T>CI278Teyeskelvasc---ItalianEvangelisti et al. 2008
6909122 T>CEX8missBsr I+833 T>CI278T--vasc-mildresponsiveDanishSkovby F*
69111758 C>TIN10splicingIVS10+7 C>Tn.d.--vasc-mildresponsiveDanishSkovby F*
6926579 G>AIVS4splicingIVS4+1 G>An.d.eye-vasc-mild-DanishSkovby F*
69313325 G>AEX12missTaq I-1330 G>AD444Neye-vasc-mild-DanishSkovby F*CG>CA
6949122 T>CEX8missBsr I+833 T>CI278T--vasc-mildresponsiveFrenchLefaucheur R et al. 2008
69513325 G>AEX12missTaq I-1330 G>AD444N--vasc-mild-FrenchLefaucheur R et al. 2008CG>CA
6966950 C>GEX6miss694 C>GH232D---cns--JapaneseYokoi et al. 2008
6978243 G>AEX7miss775 G>AG259D---cns--JapaneseYokoi et al. 2008CG>CA
69813316 A>TEX12nons1321 A>TK441X-skel-cns--JapaneseKatsushima et al. 2006
69913316 A>TEX12nons1321 A>TK441X-skel-cns--JapaneseKatsushima et al. 2006
7006950 C>GEX6miss694 C>GH232Deye--cns-responsiveJapaneseKatsushima et al. 2006
7019122 T>CEX8missBsr I+833 T>CI278Teye--cns-responsiveJapaneseKatsushima et al. 2006
7025840 C>TEX3missMae II+341 C>TA114V------JapaneseKatsushima et al. 2006CG>TG
7035950 G>AEX3miss451 G>AG151Rnbsnbsnbsnbs--JapaneseKatsushima et al. 2006CG>CA
70413316 A>TEX12nons1321 A>TK441XnbsnbsnbsnbsnbsnonJapaneseKatsushima et al. 2006
70518245del4EX16del1591del41591delTTCG, fsnbsnbsnbsnbsnbsnonJapaneseKatsushima et al. 2006
706103 G>AEX1miss103G>A; 129G>AD35N; W43XnbsnbsnbsnbsnbsnonJapaneseKatsushima et al. 2006
7076950 C>GEX6miss694 C>GH232DnbsnbsnbsnbsnbsnonJapaneseKatsushima et al. 2006
7085861 G>AEX3miss362 G>AR121HnbsnbsnbsnbsnbsnonJapaneseKatsushima et al. 2006CG>CA; *
7096504 G>AEX4miss457 G>AG153R------GermanLinnebank, M.*
7105873 G>AEX3missPst I+374 G>AR125Q------GermanLinnebank, M.*CG>CA
7115950 G>AEX3miss451 G>AG151Reyeskel-cnsmoderatenonTurkishLinnebank, M.*CG>CA
7129804 T>CEX9miss959 T>CV320Aeyeskelvasc-mildpartialGermanLinnebank, M.*
7135872 C>TEX3missAci I -373 C>TR125Weyeskel--mildresponsiveGermanLinnebank, M.*CG>TG
7145680 C>AEX3miss361 C>AR121S------Turkish/DutchLinnebank, M.*
71511664 C>TEX10miss1058 C>TT353M------Turkish/DutchLinnebank, M.*CG>TG
7165942 G>AEX3miss443 G>AG148E------GermanLinnebank, M.*
71711666 G>AEX10miss1060 G>AV354M------GermanLinnebank, M.*
718194 A>CEX1miss194 A>CH65R------n.d.Linnebank, M.*
7196549 G>AEX4miss502 G>AV168M------n.d.Linnebank, M.*CG>CA
7203671 A>C 6643 del29EX2; IVS4missPstI+304 A>C; IVS4-29del129K102Q; del EX5------IsraeliLinnebank, M.*
7213671 A>C 6643 del29EX2; IVS4missPstI+304 A>C; IVS4-29del129K102Q; del EX5------IsraeliLinnebank, M.*
72213217 A>CIN11delMsp I+IVS11-2 A>Cdel ex 12------n.d.Linnebank, M.*
72313217 A>CIN11delMsp I+IVS11-2 A>Cdel ex 12------n.d.Linnebank, M.*
7245861 G>AEX3miss362 G>AR121H------GermanLinnebank, M.*CG>CA; *
7259858 T>CEX9missPvuI+1013 T>CL338P------n.d.Linnebank, M.*
7269122 T>CEX8missBsr I+833 T>CI278T------GermanLinnebank, M.*
72711688 T>CEX10miss1082 T>CA361V------GermanLinnebank, M.*
72813217 A>CIN11delMsp I+IVS11-2 A>Cdel ex 12------PolishLinnebank, M.*
72913217 A>CIN11delMsp I+IVS11-2 A>Cdel ex 12------PolishLinnebank, M.*
7306932 G>AEX6miss676 G>AA226T------PolishLinnebank, M.*CG>CA
73113217 A>CIN11delMsp I+IVS11-2 A>Cdel ex 12------PolishLinnebank, M.*
73213217 A>CIN11delMsp I+IVS11-2 A>Cdel ex 12------PolishLinnebank, M.*
7339151 G>AEX8miss862 G>AA288T------PolishLinnebank, M.*CG>CA
7349852 G>AEX9missSph I-1007 G>AR336H------n.d.Linnebank, M.*CG>CA; *
7359852 G>AEX9missSph I-1007 G>AR336H------n.d.Linnebank, M.*CG>CA; *
7369151 G>AEX8miss862 G>AA288T------TurkishLinnebank, M.*CG>CA
7379151 G>AEX8miss862 G>AA288T------TurkishLinnebank, M.*CG>CA
7388238 C>TEX7missNla III+770 C>TT257M------n.d.Linnebank, M.*CG>TG
7399122 T>CEX8missBsr I+833 T>CI278T------n.d.Linnebank, M.*
7409193 G>AEX8miss904 G>AE302K------n.d.Linnebank, M.*CG>CA
741G253delEX2delG253 delfs------BrazilianLinnebank, M.*
7425861 G>AEX3miss362 G>AR121HnbsnbsnbsnbsnbsnonJapaneseKatsushima et al. 2006CG>CA; *
7439884 G>AEX9miss1039 G>AG347S-skel-cns-nonJapaneseKatsushima et al. 2006CG>CA
7449884 G>AEX9miss1039 G>AG347S-skel-cns-nonJapaneseKatsushima et al. 2006CG>CA
7456792 C>TEX6miss650 C>TS217F------JapaneseKatsushima et al. 2006
7469122 T>CEX8missBsr I+833 T>CI278T------JapaneseKatsushima et al. 2006
7475861 G>AEX3miss362 G>AR121HnbsnbsnbsnbsnbsnonJapaneseKatsushima et al. 2006CG>CA; *
7485861 G>AEX3miss362 G>AR121HnbsnbsnbsnbsnbsnonJapaneseKatsushima et al. 2006CG>CA; *
7495860 C>TEX3miss361 C>TR121Ceyevasccns--JapaneseKatsushima et al. 2006CG>TG; *
7505860 C>TEX3miss361 C>TR121Ceyevasccns--JapaneseKatsushima et al. 2006CG>TG; *
7518264 A>GEX7missBstN I-796A>GR266Gnbsnbsnbsnbs--JapaneseKatsushima et al. 2006
75213316 A>TEX12nons1321 A>TK441Xnbsnbsnbsnbs--JapaneseKatsushima et al. 2006
75311664 C>TEX10miss1058 C>TT353M----severe-SpanishCozar M et al. 2011CG>TG
75413325 G>AEX12missTaq I-1330 G>AD444N----severe-SpanishCozar M et al. 2011CG>CA
7556741 C>TEX5missMsp I-599 C>TP200L----asymptomatic-SpanishCozar M et al. 2011
7565873 G>AEX3missPst I+374 G>AR125Q----mild-SpanishCozar M et al. 2011CG>CA
757146 C>TEX1missDde I+146 C>TP49L----mild-SpanishCozar M et al. 2011CG>TG
7585873 G>AEX3missPst I+374 G>AR125Q----asymptomatic-SpanishCozar M et al. 2011CG>CA
759146 C>TEX1missDde I+146 C>TP49L----asymptomatic-SpanishCozar M et al. 2011CG>TG
7606714 C>TEX5missFokI+572 C>TT191M----mild-SpanishCozar M et al. 2011CG>TG
7619130 C>TEX8missBamH I-841 C>TD281N----mild-SpanishCozar M et al. 2011
7626714 C>TEX5missFokI+572 C>TT191M----mild-SpanishCozar M et al. 2011CG>TG
7639130 C>TEX8missBamH I-841 C>TD281N----mild-SpanishCozar M et al. 2011
7646714 C>TEX5missFokI+572 C>TT191M----mild-SpanishCozar M et al. 2011CG>TG
7659130 C>TEX8missBamH I-841 C>TD281N----mild-SpanishCozar M et al. 2011
76611664 C>TEX10miss1058 C>TT353M----mild-SpanishCozar M et al. 2011CG>TG
76713325 G>AEX12missTaq I-1330 G>AD444N----mild-SpanishCozar M et al. 2011CG>CA
7689122 T>CEX8missBsr I+833 T>CI278T----mild-SpanishCozar M et al. 2011
7695860 C>TEX3miss361 C>TR121C----mild-SpanishCozar M et al. 2011CG>TG; *
77013325 G>AEX12missTaq I-1330 G>AD444N----mild-SpanishCozar M et al. 2011CG>CA
77113325 G>AEX12missTaq I-1330 G>AD444N----mild-SpanishCozar M et al. 2011CG>CA
7726714 C>TEX5missFokI+572 C>TT191M----mild-SpanishCozar M et al. 2011CG>TG
7736714 C>TEX5missFokI+572 C>TT191M----mild-SpanishCozar M et al. 2011CG>TG
7746714 C>TEX5missFokI+572 C>TT191M----severe-SpanishCozar M et al. 2011CG>TG
7756714 C>TEX5missFokI+572 C>TT191M----severe-SpanishCozar M et al. 2011CG>TG
7766714 C>TEX5missFokI+572 C>TT191M----severe-SpanishCozar M et al. 2011CG>TG
7779122 T>CEX8missTspR I+833 T>GI278S----severe-SpanishCozar M et al. 2011
7786714 C>TEX5missFokI+572 C>TT191M----mild-SpanishCozar M et al. 2011CG>TG
77911742 G>AEX10miss1136 G>AR379Q----mild-SpanishCozar M et al. 2011CG>CA
78018220delGEX16delNciI-1566delGfs, stop at aa 540------SpanishCozar M et al. 2011
78118220delGEX16delNciI-1566delGfs, stop at aa 540------SpanishCozar M et al. 2011
7829122 T>CEX8missBsr I+833 T>CI278T----mild-SpanishCozar M et al. 2011
7838292 G>AEX7miss824 G>AC275Y----mild-SpanishCozar M et al. 2011
78418220delGEX16delNciI-1566delGfs, stop at aa 540----severe-PortugeseCozar M et al. 2011
78518220delGEX16delNciI-1566delGfs, stop at aa 540----severe-PortugeseCozar M et al. 2011
78618220delGEX16delNciI-1566delGfs, stop at aa 540----asymptomatic-PortugeseCozar M et al. 2011
7876636_7431del796IVS4-6delIVS4-38del796V178GfsX23----asymptomatic-PortugeseCozar M et al. 2011
7889151_9155del5EX8del862_866del5E289GfsX39----severe-PortugeseCozar M et al. 2011
7899151_9155del5EX8del862_866del5E289GfsX39----severe-PortugeseCozar M et al. 2011
7903620 G>AEX2miss253 G>AG85R----severe-ArgentinianCozar M et al. 2011CG>CA
7916909_6916del8IVS5delIVS5-14_-7del8Y223GfsX23----severe-ArgentinianCozar M et al. 2011
7923620 G>AEX2miss253 G>AG85R----severe-ArgentinianCozar M et al. 2011CG>CA
7936909_6916del8IVS5delIVS5-14_-7del8Y223GfsX23----severe-ArgentinianCozar M et al. 2011
7946945delTEX6delMsp I+689delTL230RfsX39----severe-ArgentinianCozar M et al. 2011
7956945delTEX6delMsp I+689delTL230RfsX39----severe-ArgentinianCozar M et al. 2011
7969807 A>TEX9missHpy8 I-962 A>TD321V----mild-ArgentinianCozar M et al. 2011
79713331 G>TEX12miss1336 G>TA446S----mild-ArgentinianCozar M et al. 2011
7986932 G>AEX6miss676 G>AA226T----severe-ArgentinianCozar M et al. 2011CG>CA
7996932 G>AEX6miss676 G>AA226T----severe-ArgentinianCozar M et al. 2011CG>CA
8009122 T>CEX8missBsr I+833 T>CI278T------NorwegianCozar M et al. 2011
8019122 T>CEX8missBsr I+833 T>CI278T------NorwegianCozar M et al. 2011
8026565_6567delTGAEX4del518delTGAM173del----mild-IndianCozar M et al. 2011
8036565_6567delTGAEX4del518delTGAM173del----mild-IndianCozar M et al. 2011
8049851 C>TEX9miss1006 C>TR336C------QatarZschocke et al. 2009CG>TG; *
8059851 C>TEX9miss1006 C>TR336C------QatarZschocke et al. 2009CG>TG; *
8069851 C>TEX9miss1006 C>TR336C------QatarZschocke et al. 2009CG>TG; *
8079851 C>TEX9miss1006 C>TR336C------QatarZschocke et al. 2009CG>TG; *
8089851 C>TEX9miss1006 C>TR336C------QatarZschocke et al. 2009CG>TG; *
8099851 C>TEX9miss1006 C>TR336C------QatarZschocke et al. 2009CG>TG; *
8109884 G>AEX9miss1039 G>AG347S------QatarZschocke et al. 2009CG>CA
8119884 G>AEX9miss1039 G>AG347S------QatarZschocke et al. 2009CG>CA
8129851 C>TEX9miss1006 C>TR336C------QatarZschocke et al. 2009CG>TG; *
8139851 C>TEX9miss1006 C>TR336C------QatarZschocke et al. 2009CG>TG; *
8149851 C>TEX9miss1006 C>TR336C------QatarZschocke et al. 2009CG>TG; *
8159851 C>TEX9miss1006 C>TR336C------QatarZschocke et al. 2009CG>TG; *
8169851 C>TEX9miss1006 C>TR336C------QatarZschocke et al. 2009CG>TG; *
8179851 C>TEX9miss1006 C>TR336C------QatarZschocke et al. 2009CG>TG; *
8189851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8199851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8209851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8219851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8229851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8239851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8249851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8259851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8269851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8279851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8289851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8299851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8309851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8319851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8329851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8339851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8349851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8359851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8369851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8379851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8389851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8399851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8409851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8419851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8429851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8439851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8449851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8459851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8469851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8479851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8489851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8499851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8509851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8519851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8529851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8539851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8549851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8559851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8569851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8579851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8589851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8599851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8609851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8619851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8629851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8639851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8649851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8659851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8669851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8679851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8689851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8699851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8709851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8719851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8729851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8739851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8749851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8759851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8769851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8779851 C>TEX9miss1006 C>TR336C------QatarEl-Said et al. 2006CG>TG; *
8786956 G>AEX6miss700 G>AD234N------QatarEl-Said et al. 2006CG>CA
8796956 G>AEX6miss700 G>AD234N------QatarEl-Said et al. 2006CG>CA
8808238 C>TEX7miss770 C>TT257Meye--cnsmoderate-SudanZaidi et al. 2011CG>TG
8818238 C>TEX7miss770 C>TT257Meye--cnsmoderate-SudanZaidi et al. 2011CG>TG
8829814 G>AEX9nons969 G>AW323Xeye--cnsmoderate-SaudiZaidi et al. 2011CG>TG
8839814 G>AEX9nons969 G>AW323Xeye--cnsmoderate-SaudiZaidi et al. 2011CG>TG
8849814 G>AEX9nons969 G>AW323Xeyeskel-cns--SaudiZaidi et al. 2011CG>TG
8859814 G>AEX9nons969 G>AW323Xeyeskel-cns--SaudiZaidi et al. 2011CG>TG
8869814 G>AEX9nons969 G>AW323X------SaudiZaidi et al. 2011CG>TG
8879814 G>AEX9nons969 G>AW323X------SaudiZaidi et al. 2011CG>TG
8889814 G>AEX9nons969 G>AW323X------SaudiZaidi et al. 2011CG>TG
8899814 G>AEX9nons969 G>AW323X------SaudiZaidi et al. 2011CG>TG
8909814 G>AEX9nons969 G>AW323Xeyeskel----SaudiZaidi et al. 2011CG>TG
8919814 G>AEX9nons969 G>AW323Xeyeskel----SaudiZaidi et al. 2011CG>TG
8929814 G>AEX9nons969 G>AW323X-skel----SaudiZaidi et al. 2011CG>TG
8939814 G>AEX9nons969 G>AW323X-skel----SaudiZaidi et al. 2011CG>TG
8949814 G>AEX9nons969 G>AW323X----nbs-SaudiZaidi et al. 2011CG>TG
8959814 G>AEX9nons969 G>AW323X----nbs-SaudiZaidi et al. 2011CG>TG
8969814 G>AEX9nons969 G>AW323X-skel-cns--SaudiZaidi et al. 2011CG>TG
8979814 G>AEX9nons969 G>AW323X-skel-cns--SaudiZaidi et al. 2011CG>TG
8989814 G>AEX9nons969 G>AW323X------SaudiZaidi et al. 2011CG>TG
8999814 G>AEX9nons969 G>AW323X------SaudiZaidi et al. 2011CG>TG
9009814 G>AEX9nons969 G>AW323Xeye-----SaudiZaidi et al. 2011CG>TG
9019814 G>AEX9nons969 G>AW323Xeye-----SaudiZaidi et al. 2011CG>TG
9029851 C>TEX9miss1006 C>TR336Ceyeskel----SaudiZaidi et al. 2011CG>TG; *
9039851 C>TEX9miss1006 C>TR336Ceyeskel----SaudiZaidi et al. 2011CG>TG; *
9049851 C>TEX9miss1006 C>TR336Ceyeskel----SaudiZaidi et al. 2011CG>TG; *
9059851 C>TEX9miss1006 C>TR336Ceyeskel----SaudiZaidi et al. 2011CG>TG; *
9066504 G>AEX4miss457 G>AG153Reyeskel----SaudiZaidi et al. 2011
9076504 G>AEX4miss457 G>AG153Reyeskel----SaudiZaidi et al. 2011
9089122 T>CEX8missBsr I+833 T>CI278Teyeskel-cns-responsiveBrazilianPorto et al. 2005
9099122 T>CEX8missBsr I+833 T>CI278Teyeskel-cns-partialPortuguesePorto et al. 2005
9109122 T>CEX8missBsr I+833 T>CI278Teyeskel-cns-nonBrazilianPorto et al. 2005
9116550 T>CEX4miss503 T>CV168Aeyeskel-cns-nonBrazilianPorto et al. 2005
9126714 C>TEX5missFokI+572 C>TT191Meyeskel-cns-nonBrazilianPorto et al. 2005CG>TG
9136714 C>TEX5missFokI+572 C>TT191Meyeskel-cns-nonBrazilianPorto et al. 2005CG>TG
9146714 C>TEX5missFokI+572 C>TT191Meyeskel-cns-nonBrazilianPorto et al. 2005CG>TG
9156508 T>AEX4miss461 T>AL154Q----nbs-KoreanLee et al. 2005CG>TG
9168238 C>TEX7miss770 C>TT257M----nbs-KoreanLee et al. 2005CG>TG
9176956_6958delGACEX6del700_702delGAC234delDeye--cns--KoreanLee et al. 2005
9188238 C>TEX7miss770 C>TT257Meye--cns--KoreanLee et al. 2005CG>TG
9199851 C>TEX9miss1006 C>TR336Ceyeskelvasccns--KoreanLee et al. 2005CG>TG; *
92011664 C>TEX10miss1058 C>TT353Meyeskelvasccns--KoreanLee et al. 2005CG>TG
9216510 C>TEX4miss464C>TA155Veye-----KoreanLee et al. 2005
9229884 G>AEX9miss1039 G>AG347Seye-----KoreanLee et al. 2005CG>CA
9236956_6958delGACEX6del700_702delGAC234delDeye--cns--KoreanLee et al. 2005
9249151 G>AEX8miss862 G>AA288Teye--cns--KoreanLee et al. 2005CG>CA

Retrieved from the database: 24/07/2017, 02:43 AM


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