Below the variants for the list 'MYO7A_LGM_2021', created by davidbaux, on 2021-08-04
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MYO7A - NM_000260.3:c.3719G>A - p.(Arg1240Gln)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.6025del - p.(Ala2009ProfsTer32)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.1517T>A - p.(Ile506Asn)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.2878G>T - p.(Glu960Ter)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.5215C>T - p.(Arg1739Ter)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.1189G>A - p.(Ala397Thr)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.5617C>T - p.(Arg1873Trp)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.6557T>C - p.(Leu2186Pro)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.487G>A - p.(Gly163Arg)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.52C>T - p.(Gln18Ter)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.4120G>A - p.(Gly1374Arg)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.2283-1G>T - p.(?)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.3764del - p.(Lys1255ArgfsTer8)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.5358del - p.(Lys1787ArgfsTer18)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.4411T>C - p.(Ser1471Pro)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.735+1G>T - p.(?)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.5581C>T - p.(Arg1861Ter)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.2443C>T - p.(Gln815Ter)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.3979G>A - p.(Glu1327Lys)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.448C>T - p.(Arg150Ter)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.5581del - p.(Arg1861GlufsTer18)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.397dup - p.(His133ProfsTer7)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.6017_6018del - p.(Asp2006AlafsTer69)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.1556G>A - p.(Gly519Asp)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.6026C>A - p.(Ala2009Asp)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.3594C>A - p.(Cys1198Ter)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.3652G>A - p.(Gly1218Arg)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.1690+1G>A - p.(?)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.482G>A - p.(Gly161Glu)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.1200+1G>C - p.(?)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.5647C>T - p.(Arg1883Trp)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.703T>G - p.(Tyr235Asp)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.2513G>A - p.(Trp838Ter)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.1348G>C - p.(Glu450Gln)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.470+1G>A - p.(?)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.5886_5889del - p.(Phe1962LeufsTer7)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.640G>A - p.(Gly214Arg)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.93C>A - p.(Cys31Ter)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.2904+1G>T - p.(?)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.5573T>C - p.(Leu1858Pro)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.843G>T - p.(Leu281Phe)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.2914C>T - p.(Arg972Ter)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.999T>G - p.(Tyr333Ter)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.2658del - p.(Lys887ArgfsTer27)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.285+2T>C - p.(?)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.1717del - p.(Leu573CysfsTer49)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.700C>T - p.(Gln234Ter)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.493A>G - p.(Thr165Ala)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.2094+1G>A - p.(?)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.736-1G>A - p.(?)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.3238A>T - p.(Lys1080Ter)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.5428A>T - p.(Lys1810Ter)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.3508G>A - p.(Glu1170Lys)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.655_660del - p.(Ile219_His220del)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.1623dup - p.(Lys542GlnfsTer5)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.141G>A - p.(Trp47Ter)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.6569T>C - p.(Met2190Thr)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.6106C>T - p.(Gln2036Ter)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.4012del - p.(Arg1338AlafsTer61)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.1690G>A - p.(Gly564Ser)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.4108_4111del - p.(Gln1370TrpfsTer28)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.3572G>A - p.(Gly1191Asp)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.4770dup - p.(Arg1591SerfsTer2)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.223del - p.(Asp75ThrfsTer31)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.2904G>T - p.(Glu968Asp)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.6354+14_6354+36dup - p.(?)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.6354+3_6354+14del - p.(?)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.1708C>T - p.(Arg570Ter)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.73G>A - p.(Gly25Arg)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.5392C>T - p.(Gln1798Ter)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.5824G>T - p.(Gly1942Ter)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.1344-2A>G - p.(?)
davidbaux - 2021-08-04
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MYO7A - NM_000260.3:c.5208dup - p.(Lys1737GlnfsTer28)
davidbaux - 2021-08-04
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ADGRV1 - NM_032119.3:c.18625-1G>T - p.(?)
davidbaux - 2021-08-04
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CIB2 - NM_006383.3:c.300_309del - p.(Glu100AspfsTer28)
davidbaux - 2021-08-04
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CDH23 - NM_022124.5:c.571C>T - p.(Arg191Trp)
davidbaux - 2021-08-04