Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.136872194_136872197delCA4017748PEX7c.748-4_748-1del (p.=)
c.*13-4_*13-1del (p.=)
n.436-4_436-1del
c.634-4_634-1del (p.=)
n.753-4_753-1del (p.=)
c.628-4_628-1del (p.=)
c.454-4_454-1del (p.=)
c.527-25948_527-25945del (p.=)
dbSNP ExAC gnomAD
6g.136872196A>CCA365764379PEX7c.748-2A>C (p.=)
c.*13-2A>C (p.=)
n.436-2A>C
c.634-2A>C (p.=)
n.753-2A>C (p.=)
c.628-2A>C (p.=)
c.454-2A>C (p.=)
c.527-25946A>C (p.=)
6g.136872196A>GCA16041019PEX7c.748-2A>G (p.=)
c.*13-2A>G (p.=)
n.436-2A>G
c.634-2A>G (p.=)
n.753-2A>G (p.=)
c.628-2A>G (p.=)
c.454-2A>G (p.=)
c.527-25946A>G (p.=)
ClinVar dbSNP
6g.136872196A>TCA4017752PEX7c.748-2A>T (p.=)
c.*13-2A>T (p.=)
n.436-2A>T
c.634-2A>T (p.=)
n.753-2A>T (p.=)
c.628-2A>T (p.=)
c.454-2A>T (p.=)
c.527-25946A>T (p.=)
dbSNP ExAC gnomAD
6g.136872196_136872197delCA4017751PEX7c.748-2_748-1del (p.=)
c.*13-2_*13-1del (p.=)
n.436-2_436-1del
c.634-2_634-1del (p.=)
n.753-2_753-1del (p.=)
c.628-2_628-1del (p.=)
c.454-2_454-1del (p.=)
c.527-25946_527-25945del (p.=)
dbSNP ExAC gnomAD
6g.136872197G>ACA365764380PEX7c.748-1G>A (p.=)
c.*13-1G>A (p.=)
n.436-1G>A
c.634-1G>A (p.=)
n.753-1G>A (p.=)
c.628-1G>A (p.=)
c.454-1G>A (p.=)
c.527-25945G>A (p.=)
6g.136872197G>CCA365764381PEX7c.748-1G>C (p.=)
c.*13-1G>C (p.=)
n.436-1G>C
c.634-1G>C (p.=)
n.753-1G>C (p.=)
c.628-1G>C (p.=)
c.454-1G>C (p.=)
c.527-25945G>C (p.=)
6g.136872197G>TCA4017753PEX7c.748-1G>T (p.=)
c.*13-1G>T (p.=)
n.436-1G>T
c.634-1G>T (p.=)
n.753-1G>T (p.=)
c.628-1G>T (p.=)
c.454-1G>T (p.=)
c.527-25945G>T (p.=)
dbSNP ExAC gnomAD
6g.136872198T>ACA365764382PEX7c.748T>A (p.Phe250Ile)
c.*13T>A (p.=)
n.436T>A
c.634T>A (p.Phe212Ile)
n.753T>A (p.=)
c.628T>A (p.Phe210Ile)
c.454T>A (p.Phe152Ile)
c.527-25944T>A (p.=)
6g.136872198T>CCA365764383PEX7c.748T>C (p.Phe250Leu)
c.*13T>C (p.=)
n.436T>C
c.634T>C (p.Phe212Leu)
n.753T>C (p.=)
c.628T>C (p.Phe210Leu)
c.454T>C (p.Phe152Leu)
c.527-25944T>C (p.=)
6g.136872198T>GCA365764384PEX7c.748T>G (p.Phe250Val)
c.*13T>G (p.=)
n.436T>G
c.634T>G (p.Phe212Val)
n.753T>G (p.=)
c.628T>G (p.Phe210Val)
c.454T>G (p.Phe152Val)
c.527-25944T>G (p.=)
6g.136872201_136872202insTTTTTTTTTTCA570574060PEX7c.751_752insTTTTTTTTTT (p.Ser251PhefsTer17)
c.*16_*17insTTTTTTTTTT (p.=)
n.439_440insTTTTTTTTTT
c.637_638insTTTTTTTTTT (p.Ser213PhefsTer17)
n.756_757insTTTTTTTTTT (p.=)
c.631_632insTTTTTTTTTT (p.Ser211PhefsTer17)
c.457_458insTTTTTTTTTT (p.Ser153PhefsTer17)
c.527-25941_527-25940insTTTTTTTTTT (p.=)
gnomAD
6g.136872201_136872202insTTTTTTTTTTTCA570574061PEX7c.751_752insTTTTTTTTTTT (p.Ser251PhefsTer21)
c.*16_*17insTTTTTTTTTTT (p.=)
n.439_440insTTTTTTTTTTT
c.637_638insTTTTTTTTTTT (p.Ser213PhefsTer21)
n.756_757insTTTTTTTTTTT (p.=)
c.631_632insTTTTTTTTTTT (p.Ser211PhefsTer21)
c.457_458insTTTTTTTTTTT (p.Ser153PhefsTer21)
c.527-25941_527-25940insTTTTTTTTTTT (p.=)
gnomAD
6g.136872201_136872202insTTTTTTTTTTTTTCA570574063PEX7c.751_752insTTTTTTTTTTTTT (p.Ser251PhefsTer18)
c.*16_*17insTTTTTTTTTTTTT (p.=)
n.439_440insTTTTTTTTTTTTT
c.637_638insTTTTTTTTTTTTT (p.Ser213PhefsTer18)
n.756_757insTTTTTTTTTTTTT (p.=)
c.631_632insTTTTTTTTTTTTT (p.Ser211PhefsTer18)
c.457_458insTTTTTTTTTTTTT (p.Ser153PhefsTer18)
c.527-25941_527-25940insTTTTTTTTTTTTT (p.=)
gnomAD
6g.136872201_136872202insTTTTTTTTTTTTTTTCA1094890236PEX7c.751_752insTTTTTTTTTTTTTTT (p.Phe250_Ser251insPhePhePhePhePhe)
c.*16_*17insTTTTTTTTTTTTTTT (p.=)
n.439_440insTTTTTTTTTTTTTTT
c.637_638insTTTTTTTTTTTTTTT (p.Phe212_Ser213insPhePhePhePhePhe)
n.756_757insTTTTTTTTTTTTTTT (p.=)
c.631_632insTTTTTTTTTTTTTTT (p.Phe210_Ser211insPhePhePhePhePhe)
c.457_458insTTTTTTTTTTTTTTT (p.Phe152_Ser153insPhePhePhePhePhe)
c.527-25941_527-25940insTTTTTTTTTTTTTTT (p.=)
6g.136872201_136872202insTTTTTTTTTTTTTTTTCA570574064PEX7c.751_752insTTTTTTTTTTTTTTTT (p.Ser251PhefsTer19)
c.*16_*17insTTTTTTTTTTTTTTTT (p.=)
n.439_440insTTTTTTTTTTTTTTTT
c.637_638insTTTTTTTTTTTTTTTT (p.Ser213PhefsTer19)
n.756_757insTTTTTTTTTTTTTTTT (p.=)
c.631_632insTTTTTTTTTTTTTTTT (p.Ser211PhefsTer19)
c.457_458insTTTTTTTTTTTTTTTT (p.Ser153PhefsTer19)
c.527-25941_527-25940insTTTTTTTTTTTTTTTT (p.=)
gnomAD
6g.136872201_136872202insTTTTTTTTTTTTTTTTTCA1094890238PEX7c.751_752insTTTTTTTTTTTTTTTTT (p.Ser251PhefsTer23)
c.*16_*17insTTTTTTTTTTTTTTTTT (p.=)
n.439_440insTTTTTTTTTTTTTTTTT
c.637_638insTTTTTTTTTTTTTTTTT (p.Ser213PhefsTer23)
n.756_757insTTTTTTTTTTTTTTTTT (p.=)
c.631_632insTTTTTTTTTTTTTTTTT (p.Ser211PhefsTer23)
c.457_458insTTTTTTTTTTTTTTTTT (p.Ser153PhefsTer23)
c.527-25941_527-25940insTTTTTTTTTTTTTTTTT (p.=)
6g.136872201_136872202insTTTTTTTTTTTTTTTTTTTCA1094890239PEX7c.751_752insTTTTTTTTTTTTTTTTTTT (p.Ser251PhefsTer20)
c.*16_*17insTTTTTTTTTTTTTTTTTTT (p.=)
n.439_440insTTTTTTTTTTTTTTTTTTT
c.637_638insTTTTTTTTTTTTTTTTTTT (p.Ser213PhefsTer20)
n.756_757insTTTTTTTTTTTTTTTTTTT (p.=)
c.631_632insTTTTTTTTTTTTTTTTTTT (p.Ser211PhefsTer20)
c.457_458insTTTTTTTTTTTTTTTTTTT (p.Ser153PhefsTer20)
c.527-25941_527-25940insTTTTTTTTTTTTTTTTTTT (p.=)
6g.136872201_136872202insTTTTTTTTTTTTTTTTTTTTTTTTCA1094890240PEX7c.751_752insTTTTTTTTTTTTTTTTTTTTTTTT (p.Phe250_Ser251insPhePhePhePhePhePhePhePhe)
c.*16_*17insTTTTTTTTTTTTTTTTTTTTTTTT (p.=)
n.439_440insTTTTTTTTTTTTTTTTTTTTTTTT
c.637_638insTTTTTTTTTTTTTTTTTTTTTTTT (p.Phe212_Ser213insPhePhePhePhePhePhePhePhe)
n.756_757insTTTTTTTTTTTTTTTTTTTTTTTT (p.=)
c.631_632insTTTTTTTTTTTTTTTTTTTTTTTT (p.Phe210_Ser211insPhePhePhePhePhePhePhePhe)
c.457_458insTTTTTTTTTTTTTTTTTTTTTTTT (p.Phe152_Ser153insPhePhePhePhePhePhePhePhe)
c.527-25941_527-25940insTTTTTTTTTTTTTTTTTTTTTTTT (p.=)
6g.136872201_136872202insTTTTTTTTTTTTTTTTTTTTTTTTTCA1094890241PEX7c.751_752insTTTTTTTTTTTTTTTTTTTTTTTTT (p.Ser251PhefsTer22)
c.*16_*17insTTTTTTTTTTTTTTTTTTTTTTTTT (p.=)
n.439_440insTTTTTTTTTTTTTTTTTTTTTTTTT
c.637_638insTTTTTTTTTTTTTTTTTTTTTTTTT (p.Ser213PhefsTer22)
n.756_757insTTTTTTTTTTTTTTTTTTTTTTTTT (p.=)
c.631_632insTTTTTTTTTTTTTTTTTTTTTTTTT (p.Ser211PhefsTer22)
c.457_458insTTTTTTTTTTTTTTTTTTTTTTTTT (p.Ser153PhefsTer22)
c.527-25941_527-25940insTTTTTTTTTTTTTTTTTTTTTTTTT (p.=)
6g.136872201_136872202insTTTTTTTTTTTTTTTTTTTTTTTTTTCA1094890242PEX7c.751_752insTTTTTTTTTTTTTTTTTTTTTTTTTT (p.Ser251PhefsTer26)
c.*16_*17insTTTTTTTTTTTTTTTTTTTTTTTTTT (p.=)
n.439_440insTTTTTTTTTTTTTTTTTTTTTTTTTT
c.637_638insTTTTTTTTTTTTTTTTTTTTTTTTTT (p.Ser213PhefsTer26)
n.756_757insTTTTTTTTTTTTTTTTTTTTTTTTTT (p.=)
c.631_632insTTTTTTTTTTTTTTTTTTTTTTTTTT (p.Ser211PhefsTer26)
c.457_458insTTTTTTTTTTTTTTTTTTTTTTTTTT (p.Ser153PhefsTer26)
c.527-25941_527-25940insTTTTTTTTTTTTTTTTTTTTTTTTTT (p.=)
6g.136872199_136872201dupCA1094890234PEX7c.749_751dup (p.Phe250_Ser251insPhe)
c.*14_*16dup (p.=)
n.437_439dup
c.635_637dup (p.Phe212_Ser213insPhe)
n.754_756dup (p.=)
c.629_631dup (p.Phe210_Ser211insPhe)
c.455_457dup (p.Phe152_Ser153insPhe)
c.527-25943_527-25941dup (p.=)
6g.136872199T>ACA365764385PEX7c.749T>A (p.Phe250Tyr)
c.*14T>A (p.=)
n.437T>A
c.635T>A (p.Phe212Tyr)
n.754T>A (p.=)
c.629T>A (p.Phe210Tyr)
c.455T>A (p.Phe152Tyr)
c.527-25943T>A (p.=)
6g.136872199T>CCA365764386PEX7c.749T>C (p.Phe250Ser)
c.*14T>C (p.=)
n.437T>C
c.635T>C (p.Phe212Ser)
n.754T>C (p.=)
c.629T>C (p.Phe210Ser)
c.455T>C (p.Phe152Ser)
c.527-25943T>C (p.=)
6g.136872199T>GCA365764387PEX7c.749T>G (p.Phe250Cys)
c.*14T>G (p.=)
n.437T>G
c.635T>G (p.Phe212Cys)
n.754T>G (p.=)
c.629T>G (p.Phe210Cys)
c.455T>G (p.Phe152Cys)
c.527-25943T>G (p.=)
6g.136872200T>ACA365764388PEX7c.750T>A (p.Phe250Leu)
c.*15T>A (p.=)
n.438T>A
c.636T>A (p.Phe212Leu)
n.755T>A (p.=)
c.630T>A (p.Phe210Leu)
c.456T>A (p.Phe152Leu)
c.527-25942T>A (p.=)
6g.136872200T>CCA452228768PEX7c.750T>C (p.Phe250=)
c.*15T>C (p.=)
n.438T>C
c.636T>C (p.Phe212=)
n.755T>C (p.=)
c.630T>C (p.Phe210=)
c.456T>C (p.Phe152=)
c.527-25942T>C (p.=)
6g.136872200T>GCA365764389PEX7c.750T>G (p.Phe250Leu)
c.*15T>G (p.=)
n.438T>G
c.636T>G (p.Phe212Leu)
n.755T>G (p.=)
c.630T>G (p.Phe210Leu)
c.456T>G (p.Phe152Leu)
c.527-25942T>G (p.=)
6g.136872201T>ACA365764392PEX7c.751T>A (p.Ser251Thr)
c.*16T>A (p.=)
n.439T>A
c.637T>A (p.Ser213Thr)
n.756T>A (p.=)
c.631T>A (p.Ser211Thr)
c.457T>A (p.Ser153Thr)
c.527-25941T>A (p.=)
6g.136872201T>CCA365764390PEX7c.751T>C (p.Ser251Pro)
c.*16T>C (p.=)
n.439T>C
c.637T>C (p.Ser213Pro)
n.756T>C (p.=)
c.631T>C (p.Ser211Pro)
c.457T>C (p.Ser153Pro)
c.527-25941T>C (p.=)
6g.136872201T>GCA365764391PEX7c.751T>G (p.Ser251Ala)
c.*16T>G (p.=)
n.439T>G
c.637T>G (p.Ser213Ala)
n.756T>G (p.=)
c.631T>G (p.Ser211Ala)
c.457T>G (p.Ser153Ala)
c.527-25941T>G (p.=)
6g.136872202C>ACA365764393PEX7c.752C>A (p.Ser251Ter)
c.*17C>A (p.=)
n.440C>A
c.638C>A (p.Ser213Ter)
n.757C>A (p.=)
c.632C>A (p.Ser211Ter)
c.458C>A (p.Ser153Ter)
c.527-25940C>A (p.=)
6g.136872202C>GCA365764394PEX7c.752C>G (p.Ser251Ter)
c.*17C>G (p.=)
n.440C>G
c.638C>G (p.Ser213Ter)
n.757C>G (p.=)
c.632C>G (p.Ser211Ter)
c.458C>G (p.Ser153Ter)
c.527-25940C>G (p.=)
6g.136872202C>TCA365764395PEX7c.752C>T (p.Ser251Leu)
c.*17C>T (p.=)
n.440C>T
c.638C>T (p.Ser213Leu)
n.757C>T (p.=)
c.632C>T (p.Ser211Leu)
c.458C>T (p.Ser153Leu)
c.527-25940C>T (p.=)
gnomAD
6g.136872202_136872205delCA570574070PEX7c.752_755del (p.Ser251TyrfsTer16)
c.*17_*20del (p.=)
n.440_443del
c.638_641del (p.Ser213TyrfsTer16)
n.757_760del (p.=)
c.632_635del (p.Ser211TyrfsTer16)
c.458_461del (p.Ser153TyrfsTer16)
c.527-25940_527-25937del (p.=)
dbSNP gnomAD
6g.136872202_136872206delCA570574068PEX7c.752_756del (p.Ser251PhefsTer12)
c.*17_*21del (p.=)
n.440_444del
c.638_642del (p.Ser213PhefsTer12)
n.757_761del (p.=)
c.632_636del (p.Ser211PhefsTer12)
c.458_462del (p.Ser153PhefsTer12)
c.527-25940_527-25936del (p.=)
dbSNP gnomAD
6g.136872204_136872206delCA1094890247PEX7c.754_756del (p.Pro252del)
c.*19_*21del (p.=)
n.442_444del
c.640_642del (p.Pro214del)
n.759_761del (p.=)
c.634_636del (p.Pro212del)
c.460_462del (p.Pro154del)
c.527-25938_527-25936del (p.=)
6g.136872203A>CCA452228769PEX7c.753A>C (p.Ser251=)
c.*18A>C (p.=)
n.441A>C
c.639A>C (p.Ser213=)
n.758A>C (p.=)
c.633A>C (p.Ser211=)
c.459A>C (p.Ser153=)
c.527-25939A>C (p.=)
gnomAD
6g.136872203A>GCA452228771PEX7c.753A>G (p.Ser251=)
c.*18A>G (p.=)
n.441A>G
c.639A>G (p.Ser213=)
n.758A>G (p.=)
c.633A>G (p.Ser211=)
c.459A>G (p.Ser153=)
c.527-25939A>G (p.=)
6g.136872203A>TCA452228770PEX7c.753A>T (p.Ser251=)
c.*18A>T (p.=)
n.441A>T
c.639A>T (p.Ser213=)
n.758A>T (p.=)
c.633A>T (p.Ser211=)
c.459A>T (p.Ser153=)
c.527-25939A>T (p.=)
6g.136872204C>ACA365764396PEX7c.754C>A (p.Pro252Thr)
c.*19C>A (p.=)
n.442C>A
c.640C>A (p.Pro214Thr)
n.759C>A (p.=)
c.634C>A (p.Pro212Thr)
c.460C>A (p.Pro154Thr)
c.527-25938C>A (p.=)
6g.136872204C>GCA365764397PEX7c.754C>G (p.Pro252Ala)
c.*19C>G (p.=)
n.442C>G
c.640C>G (p.Pro214Ala)
n.759C>G (p.=)
c.634C>G (p.Pro212Ala)
c.460C>G (p.Pro154Ala)
c.527-25938C>G (p.=)
6g.136872204C>TCA148202569PEX7c.754C>T (p.Pro252Ser)
c.*19C>T (p.=)
n.442C>T
c.640C>T (p.Pro214Ser)
n.759C>T (p.=)
c.634C>T (p.Pro212Ser)
c.460C>T (p.Pro154Ser)
c.527-25938C>T (p.=)
dbSNP
6g.136872205C>ACA365764398PEX7c.755C>A (p.Pro252Gln)
c.*20C>A (p.=)
n.443C>A
c.641C>A (p.Pro214Gln)
n.760C>A (p.=)
c.635C>A (p.Pro212Gln)
c.461C>A (p.Pro154Gln)
c.527-25937C>A (p.=)
6g.136872205C>GCA365764399PEX7c.755C>G (p.Pro252Arg)
c.*20C>G (p.=)
n.443C>G
c.641C>G (p.Pro214Arg)
n.760C>G (p.=)
c.635C>G (p.Pro212Arg)
c.461C>G (p.Pro154Arg)
c.527-25937C>G (p.=)
6g.136872205C>TCA365764400PEX7c.755C>T (p.Pro252Leu)
c.*20C>T (p.=)
n.443C>T
c.641C>T (p.Pro214Leu)
n.760C>T (p.=)
c.635C>T (p.Pro212Leu)
c.461C>T (p.Pro154Leu)
c.527-25937C>T (p.=)
6g.136872206A>CCA452228772PEX7c.756A>C (p.Pro252=)
c.*21A>C (p.=)
n.444A>C
c.642A>C (p.Pro214=)
n.761A>C (p.=)
c.636A>C (p.Pro212=)
c.462A>C (p.Pro154=)
c.527-25936A>C (p.=)
6g.136872206A>GCA452228773PEX7c.756A>G (p.Pro252=)
c.*21A>G (p.=)
n.444A>G
c.642A>G (p.Pro214=)
n.761A>G (p.=)
c.636A>G (p.Pro212=)
c.462A>G (p.Pro154=)
c.527-25936A>G (p.=)
6g.136872206A>TCA452228774PEX7c.756A>T (p.Pro252=)
c.*21A>T (p.=)
n.444A>T
c.642A>T (p.Pro214=)
n.761A>T (p.=)
c.636A>T (p.Pro212=)
c.462A>T (p.Pro154=)
c.527-25936A>T (p.=)
gnomAD
6g.136872207T>ACA365764401PEX7c.757T>A (p.Phe253Ile)
c.*22T>A (p.=)
n.445T>A
c.643T>A (p.Phe215Ile)
n.762T>A (p.=)
c.637T>A (p.Phe213Ile)
c.463T>A (p.Phe155Ile)
c.527-25935T>A (p.=)

Number of alleles fetched