Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178568991C>ACA349612301TTN,TTN-AS1c.69437G>T (p.Ser23146Ile)
c.50522G>T (p.Ser16841Ile)
c.50321G>T (p.Ser16774Ile)
c.49946G>T (p.Ser16649Ile)
c.77141G>T (p.Ser25714Ile)
c.72218G>T (p.Ser24073Ile)
n.447-2309C>A
n.2044-13581C>A
c.76238G>T (p.Ser25413Ile)
c.50132G>T (p.Ser16711Ile)
c.49991G>T (p.Ser16664Ile)
c.76034G>T (p.Ser25345Ile)
c.71432G>T (p.Ser23811Ile)
c.71429G>T (p.Ser23810Ile)
c.68471G>T (p.Ser22824Ile)
c.50087G>T (p.Ser16696Ile)
c.71582G>T (p.Ser23861Ile)
c.71579G>T (p.Ser23860Ile)
c.71012G>T (p.Ser23671Ile)
c.68354G>T (p.Ser22785Ile)
c.68273G>T (p.Ser22758Ile)
c.50036G>T (p.Ser16679Ile)
c.39890G>T (p.Ser13297Ile)
2g.178568991C>GCA349612303TTN,TTN-AS1c.69437G>C (p.Ser23146Thr)
c.50522G>C (p.Ser16841Thr)
c.50321G>C (p.Ser16774Thr)
c.49946G>C (p.Ser16649Thr)
c.77141G>C (p.Ser25714Thr)
c.72218G>C (p.Ser24073Thr)
n.447-2309C>G
n.2044-13581C>G
c.76238G>C (p.Ser25413Thr)
c.50132G>C (p.Ser16711Thr)
c.49991G>C (p.Ser16664Thr)
c.76034G>C (p.Ser25345Thr)
c.71432G>C (p.Ser23811Thr)
c.71429G>C (p.Ser23810Thr)
c.68471G>C (p.Ser22824Thr)
c.50087G>C (p.Ser16696Thr)
c.71582G>C (p.Ser23861Thr)
c.71579G>C (p.Ser23860Thr)
c.71012G>C (p.Ser23671Thr)
c.68354G>C (p.Ser22785Thr)
c.68273G>C (p.Ser22758Thr)
c.50036G>C (p.Ser16679Thr)
c.39890G>C (p.Ser13297Thr)
2g.178568991C>TCA349612305TTN,TTN-AS1c.69437G>A (p.Ser23146Asn)
c.50522G>A (p.Ser16841Asn)
c.50321G>A (p.Ser16774Asn)
c.49946G>A (p.Ser16649Asn)
c.77141G>A (p.Ser25714Asn)
c.72218G>A (p.Ser24073Asn)
n.447-2309C>T
n.2044-13581C>T
c.76238G>A (p.Ser25413Asn)
c.50132G>A (p.Ser16711Asn)
c.49991G>A (p.Ser16664Asn)
c.76034G>A (p.Ser25345Asn)
c.71432G>A (p.Ser23811Asn)
c.71429G>A (p.Ser23810Asn)
c.68471G>A (p.Ser22824Asn)
c.50087G>A (p.Ser16696Asn)
c.71582G>A (p.Ser23861Asn)
c.71579G>A (p.Ser23860Asn)
c.71012G>A (p.Ser23671Asn)
c.68354G>A (p.Ser22785Asn)
c.68273G>A (p.Ser22758Asn)
c.50036G>A (p.Ser16679Asn)
c.39890G>A (p.Ser13297Asn)
2g.178568992T>ACA349612308TTN,TTN-AS1c.69436A>T (p.Ser23146Cys)
c.50521A>T (p.Ser16841Cys)
c.50320A>T (p.Ser16774Cys)
c.49945A>T (p.Ser16649Cys)
c.77140A>T (p.Ser25714Cys)
c.72217A>T (p.Ser24073Cys)
n.447-2308T>A
n.2044-13580T>A
c.76237A>T (p.Ser25413Cys)
c.50131A>T (p.Ser16711Cys)
c.49990A>T (p.Ser16664Cys)
c.76033A>T (p.Ser25345Cys)
c.71431A>T (p.Ser23811Cys)
c.71428A>T (p.Ser23810Cys)
c.68470A>T (p.Ser22824Cys)
c.50086A>T (p.Ser16696Cys)
c.71581A>T (p.Ser23861Cys)
c.71578A>T (p.Ser23860Cys)
c.71011A>T (p.Ser23671Cys)
c.68353A>T (p.Ser22785Cys)
c.68272A>T (p.Ser22758Cys)
c.50035A>T (p.Ser16679Cys)
c.39889A>T (p.Ser13297Cys)
2g.178568992T>CCA349612311TTN,TTN-AS1c.69436A>G (p.Ser23146Gly)
c.50521A>G (p.Ser16841Gly)
c.50320A>G (p.Ser16774Gly)
c.49945A>G (p.Ser16649Gly)
c.77140A>G (p.Ser25714Gly)
c.72217A>G (p.Ser24073Gly)
n.447-2308T>C
n.2044-13580T>C
c.76237A>G (p.Ser25413Gly)
c.50131A>G (p.Ser16711Gly)
c.49990A>G (p.Ser16664Gly)
c.76033A>G (p.Ser25345Gly)
c.71431A>G (p.Ser23811Gly)
c.71428A>G (p.Ser23810Gly)
c.68470A>G (p.Ser22824Gly)
c.50086A>G (p.Ser16696Gly)
c.71581A>G (p.Ser23861Gly)
c.71578A>G (p.Ser23860Gly)
c.71011A>G (p.Ser23671Gly)
c.68353A>G (p.Ser22785Gly)
c.68272A>G (p.Ser22758Gly)
c.50035A>G (p.Ser16679Gly)
c.39889A>G (p.Ser13297Gly)
2g.178568992T>GCA349612313TTN,TTN-AS1c.69436A>C (p.Ser23146Arg)
c.50521A>C (p.Ser16841Arg)
c.50320A>C (p.Ser16774Arg)
c.49945A>C (p.Ser16649Arg)
c.77140A>C (p.Ser25714Arg)
c.72217A>C (p.Ser24073Arg)
n.447-2308T>G
n.2044-13580T>G
c.76237A>C (p.Ser25413Arg)
c.50131A>C (p.Ser16711Arg)
c.49990A>C (p.Ser16664Arg)
c.76033A>C (p.Ser25345Arg)
c.71431A>C (p.Ser23811Arg)
c.71428A>C (p.Ser23810Arg)
c.68470A>C (p.Ser22824Arg)
c.50086A>C (p.Ser16696Arg)
c.71581A>C (p.Ser23861Arg)
c.71578A>C (p.Ser23860Arg)
c.71011A>C (p.Ser23671Arg)
c.68353A>C (p.Ser22785Arg)
c.68272A>C (p.Ser22758Arg)
c.50035A>C (p.Ser16679Arg)
c.39889A>C (p.Ser13297Arg)
2g.178568993G>ACA430253992TTN,TTN-AS1c.69435C>T (p.Asn23145=)
c.50520C>T (p.Asn16840=)
c.50319C>T (p.Asn16773=)
c.49944C>T (p.Asn16648=)
c.77139C>T (p.Asn25713=)
c.72216C>T (p.Asn24072=)
n.447-2307G>A
n.2044-13579G>A
c.76236C>T (p.Asn25412=)
c.50130C>T (p.Asn16710=)
c.49989C>T (p.Asn16663=)
c.76032C>T (p.Asn25344=)
c.71430C>T (p.Asn23810=)
c.71427C>T (p.Asn23809=)
c.68469C>T (p.Asn22823=)
c.50085C>T (p.Asn16695=)
c.71580C>T (p.Asn23860=)
c.71577C>T (p.Asn23859=)
c.71010C>T (p.Asn23670=)
c.68352C>T (p.Asn22784=)
c.68271C>T (p.Asn22757=)
c.50034C>T (p.Asn16678=)
c.39888C>T (p.Asn13296=)
 gnomAD v4
2g.178568993G>CCA349612316TTN,TTN-AS1c.69435C>G (p.Asn23145Lys)
c.50520C>G (p.Asn16840Lys)
c.50319C>G (p.Asn16773Lys)
c.49944C>G (p.Asn16648Lys)
c.77139C>G (p.Asn25713Lys)
c.72216C>G (p.Asn24072Lys)
n.447-2307G>C
n.2044-13579G>C
c.76236C>G (p.Asn25412Lys)
c.50130C>G (p.Asn16710Lys)
c.49989C>G (p.Asn16663Lys)
c.76032C>G (p.Asn25344Lys)
c.71430C>G (p.Asn23810Lys)
c.71427C>G (p.Asn23809Lys)
c.68469C>G (p.Asn22823Lys)
c.50085C>G (p.Asn16695Lys)
c.71580C>G (p.Asn23860Lys)
c.71577C>G (p.Asn23859Lys)
c.71010C>G (p.Asn23670Lys)
c.68352C>G (p.Asn22784Lys)
c.68271C>G (p.Asn22757Lys)
c.50034C>G (p.Asn16678Lys)
c.39888C>G (p.Asn13296Lys)
2g.178568993G>TCA349612318TTN,TTN-AS1c.69435C>A (p.Asn23145Lys)
c.50520C>A (p.Asn16840Lys)
c.50319C>A (p.Asn16773Lys)
c.49944C>A (p.Asn16648Lys)
c.77139C>A (p.Asn25713Lys)
c.72216C>A (p.Asn24072Lys)
n.447-2307G>T
n.2044-13579G>T
c.76236C>A (p.Asn25412Lys)
c.50130C>A (p.Asn16710Lys)
c.49989C>A (p.Asn16663Lys)
c.76032C>A (p.Asn25344Lys)
c.71430C>A (p.Asn23810Lys)
c.71427C>A (p.Asn23809Lys)
c.68469C>A (p.Asn22823Lys)
c.50085C>A (p.Asn16695Lys)
c.71580C>A (p.Asn23860Lys)
c.71577C>A (p.Asn23859Lys)
c.71010C>A (p.Asn23670Lys)
c.68352C>A (p.Asn22784Lys)
c.68271C>A (p.Asn22757Lys)
c.50034C>A (p.Asn16678Lys)
c.39888C>A (p.Asn13296Lys)
2g.178568994T>ACA349612321TTN,TTN-AS1c.69434A>T (p.Asn23145Ile)
c.50519A>T (p.Asn16840Ile)
c.50318A>T (p.Asn16773Ile)
c.49943A>T (p.Asn16648Ile)
c.77138A>T (p.Asn25713Ile)
c.72215A>T (p.Asn24072Ile)
n.447-2306T>A
n.2044-13578T>A
c.76235A>T (p.Asn25412Ile)
c.50129A>T (p.Asn16710Ile)
c.49988A>T (p.Asn16663Ile)
c.76031A>T (p.Asn25344Ile)
c.71429A>T (p.Asn23810Ile)
c.71426A>T (p.Asn23809Ile)
c.68468A>T (p.Asn22823Ile)
c.50084A>T (p.Asn16695Ile)
c.71579A>T (p.Asn23860Ile)
c.71576A>T (p.Asn23859Ile)
c.71009A>T (p.Asn23670Ile)
c.68351A>T (p.Asn22784Ile)
c.68270A>T (p.Asn22757Ile)
c.50033A>T (p.Asn16678Ile)
c.39887A>T (p.Asn13296Ile)
2g.178568994T>CCA60993270TTN,TTN-AS1c.69434A>G (p.Asn23145Ser)
c.50519A>G (p.Asn16840Ser)
c.50318A>G (p.Asn16773Ser)
c.49943A>G (p.Asn16648Ser)
c.77138A>G (p.Asn25713Ser)
c.72215A>G (p.Asn24072Ser)
n.447-2306T>C
n.2044-13578T>C
c.76235A>G (p.Asn25412Ser)
c.50129A>G (p.Asn16710Ser)
c.49988A>G (p.Asn16663Ser)
c.76031A>G (p.Asn25344Ser)
c.71429A>G (p.Asn23810Ser)
c.71426A>G (p.Asn23809Ser)
c.68468A>G (p.Asn22823Ser)
c.50084A>G (p.Asn16695Ser)
c.71579A>G (p.Asn23860Ser)
c.71576A>G (p.Asn23859Ser)
c.71009A>G (p.Asn23670Ser)
c.68351A>G (p.Asn22784Ser)
c.68270A>G (p.Asn22757Ser)
c.50033A>G (p.Asn16678Ser)
c.39887A>G (p.Asn13296Ser)
 dbSNP gnomAD v4
2g.178568994T>GCA349612324TTN,TTN-AS1c.69434A>C (p.Asn23145Thr)
c.50519A>C (p.Asn16840Thr)
c.50318A>C (p.Asn16773Thr)
c.49943A>C (p.Asn16648Thr)
c.77138A>C (p.Asn25713Thr)
c.72215A>C (p.Asn24072Thr)
n.447-2306T>G
n.2044-13578T>G
c.76235A>C (p.Asn25412Thr)
c.50129A>C (p.Asn16710Thr)
c.49988A>C (p.Asn16663Thr)
c.76031A>C (p.Asn25344Thr)
c.71429A>C (p.Asn23810Thr)
c.71426A>C (p.Asn23809Thr)
c.68468A>C (p.Asn22823Thr)
c.50084A>C (p.Asn16695Thr)
c.71579A>C (p.Asn23860Thr)
c.71576A>C (p.Asn23859Thr)
c.71009A>C (p.Asn23670Thr)
c.68351A>C (p.Asn22784Thr)
c.68270A>C (p.Asn22757Thr)
c.50033A>C (p.Asn16678Thr)
c.39887A>C (p.Asn13296Thr)
2g.178568994T=CA1310530867TTN,TTN-AS1c.69434A= (p.Asn23145=)
c.50519A= (p.Asn16840=)
c.50318A= (p.Asn16773=)
c.49943A= (p.Asn16648=)
c.77138A= (p.Asn25713=)
c.72215A= (p.Asn24072=)
n.447-2306T=
n.2044-13578T=
c.76235A= (p.Asn25412=)
c.50129A= (p.Asn16710=)
c.49988A= (p.Asn16663=)
c.76031A= (p.Asn25344=)
c.71429A= (p.Asn23810=)
c.71426A= (p.Asn23809=)
c.68468A= (p.Asn22823=)
c.50084A= (p.Asn16695=)
c.71579A= (p.Asn23860=)
c.71576A= (p.Asn23859=)
c.71009A= (p.Asn23670=)
c.68351A= (p.Asn22784=)
c.68270A= (p.Asn22757=)
c.50033A= (p.Asn16678=)
c.39887A= (p.Asn13296=)
2g.178568995T>ACA349612325TTN,TTN-AS1c.69433A>T (p.Asn23145Tyr)
c.50518A>T (p.Asn16840Tyr)
c.50317A>T (p.Asn16773Tyr)
c.49942A>T (p.Asn16648Tyr)
c.77137A>T (p.Asn25713Tyr)
c.72214A>T (p.Asn24072Tyr)
n.447-2305T>A
n.2044-13577T>A
c.76234A>T (p.Asn25412Tyr)
c.50128A>T (p.Asn16710Tyr)
c.49987A>T (p.Asn16663Tyr)
c.76030A>T (p.Asn25344Tyr)
c.71428A>T (p.Asn23810Tyr)
c.71425A>T (p.Asn23809Tyr)
c.68467A>T (p.Asn22823Tyr)
c.50083A>T (p.Asn16695Tyr)
c.71578A>T (p.Asn23860Tyr)
c.71575A>T (p.Asn23859Tyr)
c.71008A>T (p.Asn23670Tyr)
c.68350A>T (p.Asn22784Tyr)
c.68269A>T (p.Asn22757Tyr)
c.50032A>T (p.Asn16678Tyr)
c.39886A>T (p.Asn13296Tyr)
2g.178568995T>CCA349612326TTN,TTN-AS1c.69433A>G (p.Asn23145Asp)
c.50518A>G (p.Asn16840Asp)
c.50317A>G (p.Asn16773Asp)
c.49942A>G (p.Asn16648Asp)
c.77137A>G (p.Asn25713Asp)
c.72214A>G (p.Asn24072Asp)
n.447-2305T>C
n.2044-13577T>C
c.76234A>G (p.Asn25412Asp)
c.50128A>G (p.Asn16710Asp)
c.49987A>G (p.Asn16663Asp)
c.76030A>G (p.Asn25344Asp)
c.71428A>G (p.Asn23810Asp)
c.71425A>G (p.Asn23809Asp)
c.68467A>G (p.Asn22823Asp)
c.50083A>G (p.Asn16695Asp)
c.71578A>G (p.Asn23860Asp)
c.71575A>G (p.Asn23859Asp)
c.71008A>G (p.Asn23670Asp)
c.68350A>G (p.Asn22784Asp)
c.68269A>G (p.Asn22757Asp)
c.50032A>G (p.Asn16678Asp)
c.39886A>G (p.Asn13296Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.178568995T>GCA349612328TTN,TTN-AS1c.69433A>C (p.Asn23145His)
c.50518A>C (p.Asn16840His)
c.50317A>C (p.Asn16773His)
c.49942A>C (p.Asn16648His)
c.77137A>C (p.Asn25713His)
c.72214A>C (p.Asn24072His)
n.447-2305T>G
n.2044-13577T>G
c.76234A>C (p.Asn25412His)
c.50128A>C (p.Asn16710His)
c.49987A>C (p.Asn16663His)
c.76030A>C (p.Asn25344His)
c.71428A>C (p.Asn23810His)
c.71425A>C (p.Asn23809His)
c.68467A>C (p.Asn22823His)
c.50083A>C (p.Asn16695His)
c.71578A>C (p.Asn23860His)
c.71575A>C (p.Asn23859His)
c.71008A>C (p.Asn23670His)
c.68350A>C (p.Asn22784His)
c.68269A>C (p.Asn22757His)
c.50032A>C (p.Asn16678His)
c.39886A>C (p.Asn13296His)
2g.178568995T=CA1310530869TTN,TTN-AS1c.69433A= (p.Asn23145=)
c.50518A= (p.Asn16840=)
c.50317A= (p.Asn16773=)
c.49942A= (p.Asn16648=)
c.77137A= (p.Asn25713=)
c.72214A= (p.Asn24072=)
n.447-2305T=
n.2044-13577T=
c.76234A= (p.Asn25412=)
c.50128A= (p.Asn16710=)
c.49987A= (p.Asn16663=)
c.76030A= (p.Asn25344=)
c.71428A= (p.Asn23810=)
c.71425A= (p.Asn23809=)
c.68467A= (p.Asn22823=)
c.50083A= (p.Asn16695=)
c.71578A= (p.Asn23860=)
c.71575A= (p.Asn23859=)
c.71008A= (p.Asn23670=)
c.68350A= (p.Asn22784=)
c.68269A= (p.Asn22757=)
c.50032A= (p.Asn16678=)
c.39886A= (p.Asn13296=)
2g.178568996T>ACA349612330TTN,TTN-AS1c.69432A>T (p.Arg23144Ser)
c.50517A>T (p.Arg16839Ser)
c.50316A>T (p.Arg16772Ser)
c.49941A>T (p.Arg16647Ser)
c.77136A>T (p.Arg25712Ser)
c.72213A>T (p.Arg24071Ser)
n.447-2304T>A
n.2044-13576T>A
c.76233A>T (p.Arg25411Ser)
c.50127A>T (p.Arg16709Ser)
c.49986A>T (p.Arg16662Ser)
c.76029A>T (p.Arg25343Ser)
c.71427A>T (p.Arg23809Ser)
c.71424A>T (p.Arg23808Ser)
c.68466A>T (p.Arg22822Ser)
c.50082A>T (p.Arg16694Ser)
c.71577A>T (p.Arg23859Ser)
c.71574A>T (p.Arg23858Ser)
c.71007A>T (p.Arg23669Ser)
c.68349A>T (p.Arg22783Ser)
c.68268A>T (p.Arg22756Ser)
c.50031A>T (p.Arg16677Ser)
c.39885A>T (p.Arg13295Ser)
2g.178568996T>CCA430254001TTN,TTN-AS1c.69432A>G (p.Arg23144=)
c.50517A>G (p.Arg16839=)
c.50316A>G (p.Arg16772=)
c.49941A>G (p.Arg16647=)
c.77136A>G (p.Arg25712=)
c.72213A>G (p.Arg24071=)
n.447-2304T>C
n.2044-13576T>C
c.76233A>G (p.Arg25411=)
c.50127A>G (p.Arg16709=)
c.49986A>G (p.Arg16662=)
c.76029A>G (p.Arg25343=)
c.71427A>G (p.Arg23809=)
c.71424A>G (p.Arg23808=)
c.68466A>G (p.Arg22822=)
c.50082A>G (p.Arg16694=)
c.71577A>G (p.Arg23859=)
c.71574A>G (p.Arg23858=)
c.71007A>G (p.Arg23669=)
c.68349A>G (p.Arg22783=)
c.68268A>G (p.Arg22756=)
c.50031A>G (p.Arg16677=)
c.39885A>G (p.Arg13295=)
2g.178568996T>GCA349612332TTN,TTN-AS1c.69432A>C (p.Arg23144Ser)
c.50517A>C (p.Arg16839Ser)
c.50316A>C (p.Arg16772Ser)
c.49941A>C (p.Arg16647Ser)
c.77136A>C (p.Arg25712Ser)
c.72213A>C (p.Arg24071Ser)
n.447-2304T>G
n.2044-13576T>G
c.76233A>C (p.Arg25411Ser)
c.50127A>C (p.Arg16709Ser)
c.49986A>C (p.Arg16662Ser)
c.76029A>C (p.Arg25343Ser)
c.71427A>C (p.Arg23809Ser)
c.71424A>C (p.Arg23808Ser)
c.68466A>C (p.Arg22822Ser)
c.50082A>C (p.Arg16694Ser)
c.71577A>C (p.Arg23859Ser)
c.71574A>C (p.Arg23858Ser)
c.71007A>C (p.Arg23669Ser)
c.68349A>C (p.Arg22783Ser)
c.68268A>C (p.Arg22756Ser)
c.50031A>C (p.Arg16677Ser)
c.39885A>C (p.Arg13295Ser)
2g.178568997C>ACA349612335TTN,TTN-AS1c.69431G>T (p.Arg23144Ile)
c.50516G>T (p.Arg16839Ile)
c.50315G>T (p.Arg16772Ile)
c.49940G>T (p.Arg16647Ile)
c.77135G>T (p.Arg25712Ile)
c.72212G>T (p.Arg24071Ile)
n.447-2303C>A
n.2044-13575C>A
c.76232G>T (p.Arg25411Ile)
c.50126G>T (p.Arg16709Ile)
c.49985G>T (p.Arg16662Ile)
c.76028G>T (p.Arg25343Ile)
c.71426G>T (p.Arg23809Ile)
c.71423G>T (p.Arg23808Ile)
c.68465G>T (p.Arg22822Ile)
c.50081G>T (p.Arg16694Ile)
c.71576G>T (p.Arg23859Ile)
c.71573G>T (p.Arg23858Ile)
c.71006G>T (p.Arg23669Ile)
c.68348G>T (p.Arg22783Ile)
c.68267G>T (p.Arg22756Ile)
c.50030G>T (p.Arg16677Ile)
c.39884G>T (p.Arg13295Ile)
2g.178568997C>GCA349612337TTN,TTN-AS1c.69431G>C (p.Arg23144Thr)
c.50516G>C (p.Arg16839Thr)
c.50315G>C (p.Arg16772Thr)
c.49940G>C (p.Arg16647Thr)
c.77135G>C (p.Arg25712Thr)
c.72212G>C (p.Arg24071Thr)
n.447-2303C>G
n.2044-13575C>G
c.76232G>C (p.Arg25411Thr)
c.50126G>C (p.Arg16709Thr)
c.49985G>C (p.Arg16662Thr)
c.76028G>C (p.Arg25343Thr)
c.71426G>C (p.Arg23809Thr)
c.71423G>C (p.Arg23808Thr)
c.68465G>C (p.Arg22822Thr)
c.50081G>C (p.Arg16694Thr)
c.71576G>C (p.Arg23859Thr)
c.71573G>C (p.Arg23858Thr)
c.71006G>C (p.Arg23669Thr)
c.68348G>C (p.Arg22783Thr)
c.68267G>C (p.Arg22756Thr)
c.50030G>C (p.Arg16677Thr)
c.39884G>C (p.Arg13295Thr)
2g.178568997C>TCA349612340TTN,TTN-AS1c.69431G>A (p.Arg23144Lys)
c.50516G>A (p.Arg16839Lys)
c.50315G>A (p.Arg16772Lys)
c.49940G>A (p.Arg16647Lys)
c.77135G>A (p.Arg25712Lys)
c.72212G>A (p.Arg24071Lys)
n.447-2303C>T
n.2044-13575C>T
c.76232G>A (p.Arg25411Lys)
c.50126G>A (p.Arg16709Lys)
c.49985G>A (p.Arg16662Lys)
c.76028G>A (p.Arg25343Lys)
c.71426G>A (p.Arg23809Lys)
c.71423G>A (p.Arg23808Lys)
c.68465G>A (p.Arg22822Lys)
c.50081G>A (p.Arg16694Lys)
c.71576G>A (p.Arg23859Lys)
c.71573G>A (p.Arg23858Lys)
c.71006G>A (p.Arg23669Lys)
c.68348G>A (p.Arg22783Lys)
c.68267G>A (p.Arg22756Lys)
c.50030G>A (p.Arg16677Lys)
c.39884G>A (p.Arg13295Lys)
2g.178568998T>ACA349612342TTN,TTN-AS1c.69430A>T (p.Arg23144Ter)
c.50515A>T (p.Arg16839Ter)
c.50314A>T (p.Arg16772Ter)
c.49939A>T (p.Arg16647Ter)
c.77134A>T (p.Arg25712Ter)
c.72211A>T (p.Arg24071Ter)
n.447-2302T>A
n.2044-13574T>A
c.76231A>T (p.Arg25411Ter)
c.50125A>T (p.Arg16709Ter)
c.49984A>T (p.Arg16662Ter)
c.76027A>T (p.Arg25343Ter)
c.71425A>T (p.Arg23809Ter)
c.71422A>T (p.Arg23808Ter)
c.68464A>T (p.Arg22822Ter)
c.50080A>T (p.Arg16694Ter)
c.71575A>T (p.Arg23859Ter)
c.71572A>T (p.Arg23858Ter)
c.71005A>T (p.Arg23669Ter)
c.68347A>T (p.Arg22783Ter)
c.68266A>T (p.Arg22756Ter)
c.50029A>T (p.Arg16677Ter)
c.39883A>T (p.Arg13295Ter)
2g.178568998T>CCA349612344TTN,TTN-AS1c.69430A>G (p.Arg23144Gly)
c.50515A>G (p.Arg16839Gly)
c.50314A>G (p.Arg16772Gly)
c.49939A>G (p.Arg16647Gly)
c.77134A>G (p.Arg25712Gly)
c.72211A>G (p.Arg24071Gly)
n.447-2302T>C
n.2044-13574T>C
c.76231A>G (p.Arg25411Gly)
c.50125A>G (p.Arg16709Gly)
c.49984A>G (p.Arg16662Gly)
c.76027A>G (p.Arg25343Gly)
c.71425A>G (p.Arg23809Gly)
c.71422A>G (p.Arg23808Gly)
c.68464A>G (p.Arg22822Gly)
c.50080A>G (p.Arg16694Gly)
c.71575A>G (p.Arg23859Gly)
c.71572A>G (p.Arg23858Gly)
c.71005A>G (p.Arg23669Gly)
c.68347A>G (p.Arg22783Gly)
c.68266A>G (p.Arg22756Gly)
c.50029A>G (p.Arg16677Gly)
c.39883A>G (p.Arg13295Gly)
2g.178568998T>GCA430254003TTN,TTN-AS1c.69430A>C (p.Arg23144=)
c.50515A>C (p.Arg16839=)
c.50314A>C (p.Arg16772=)
c.49939A>C (p.Arg16647=)
c.77134A>C (p.Arg25712=)
c.72211A>C (p.Arg24071=)
n.447-2302T>G
n.2044-13574T>G
c.76231A>C (p.Arg25411=)
c.50125A>C (p.Arg16709=)
c.49984A>C (p.Arg16662=)
c.76027A>C (p.Arg25343=)
c.71425A>C (p.Arg23809=)
c.71422A>C (p.Arg23808=)
c.68464A>C (p.Arg22822=)
c.50080A>C (p.Arg16694=)
c.71575A>C (p.Arg23859=)
c.71572A>C (p.Arg23858=)
c.71005A>C (p.Arg23669=)
c.68347A>C (p.Arg22783=)
c.68266A>C (p.Arg22756=)
c.50029A>C (p.Arg16677=)
c.39883A>C (p.Arg13295=)
2g.178568999G>ACA430254009TTN,TTN-AS1c.69429C>T (p.Thr23143=)
c.50514C>T (p.Thr16838=)
c.50313C>T (p.Thr16771=)
c.49938C>T (p.Thr16646=)
c.77133C>T (p.Thr25711=)
c.72210C>T (p.Thr24070=)
n.447-2301G>A
n.2044-13573G>A
c.76230C>T (p.Thr25410=)
c.50124C>T (p.Thr16708=)
c.49983C>T (p.Thr16661=)
c.76026C>T (p.Thr25342=)
c.71424C>T (p.Thr23808=)
c.71421C>T (p.Thr23807=)
c.68463C>T (p.Thr22821=)
c.50079C>T (p.Thr16693=)
c.71574C>T (p.Thr23858=)
c.71571C>T (p.Thr23857=)
c.71004C>T (p.Thr23668=)
c.68346C>T (p.Thr22782=)
c.68265C>T (p.Thr22755=)
c.50028C>T (p.Thr16676=)
c.39882C>T (p.Thr13294=)
 ClinVar
2g.178568999G>CCA430254012TTN,TTN-AS1c.69429C>G (p.Thr23143=)
c.50514C>G (p.Thr16838=)
c.50313C>G (p.Thr16771=)
c.49938C>G (p.Thr16646=)
c.77133C>G (p.Thr25711=)
c.72210C>G (p.Thr24070=)
n.447-2301G>C
n.2044-13573G>C
c.76230C>G (p.Thr25410=)
c.50124C>G (p.Thr16708=)
c.49983C>G (p.Thr16661=)
c.76026C>G (p.Thr25342=)
c.71424C>G (p.Thr23808=)
c.71421C>G (p.Thr23807=)
c.68463C>G (p.Thr22821=)
c.50079C>G (p.Thr16693=)
c.71574C>G (p.Thr23858=)
c.71571C>G (p.Thr23857=)
c.71004C>G (p.Thr23668=)
c.68346C>G (p.Thr22782=)
c.68265C>G (p.Thr22755=)
c.50028C>G (p.Thr16676=)
c.39882C>G (p.Thr13294=)
2g.178568999G>TCA430254013TTN,TTN-AS1c.69429C>A (p.Thr23143=)
c.50514C>A (p.Thr16838=)
c.50313C>A (p.Thr16771=)
c.49938C>A (p.Thr16646=)
c.77133C>A (p.Thr25711=)
c.72210C>A (p.Thr24070=)
n.447-2301G>T
n.2044-13573G>T
c.76230C>A (p.Thr25410=)
c.50124C>A (p.Thr16708=)
c.49983C>A (p.Thr16661=)
c.76026C>A (p.Thr25342=)
c.71424C>A (p.Thr23808=)
c.71421C>A (p.Thr23807=)
c.68463C>A (p.Thr22821=)
c.50079C>A (p.Thr16693=)
c.71574C>A (p.Thr23858=)
c.71571C>A (p.Thr23857=)
c.71004C>A (p.Thr23668=)
c.68346C>A (p.Thr22782=)
c.68265C>A (p.Thr22755=)
c.50028C>A (p.Thr16676=)
c.39882C>A (p.Thr13294=)
2g.178569000G>ACA349612351TTN,TTN-AS1c.69428C>T (p.Thr23143Ile)
c.50513C>T (p.Thr16838Ile)
c.50312C>T (p.Thr16771Ile)
c.49937C>T (p.Thr16646Ile)
c.77132C>T (p.Thr25711Ile)
c.72209C>T (p.Thr24070Ile)
n.447-2300G>A
n.2044-13572G>A
c.76229C>T (p.Thr25410Ile)
c.50123C>T (p.Thr16708Ile)
c.49982C>T (p.Thr16661Ile)
c.76025C>T (p.Thr25342Ile)
c.71423C>T (p.Thr23808Ile)
c.71420C>T (p.Thr23807Ile)
c.68462C>T (p.Thr22821Ile)
c.50078C>T (p.Thr16693Ile)
c.71573C>T (p.Thr23858Ile)
c.71570C>T (p.Thr23857Ile)
c.71003C>T (p.Thr23668Ile)
c.68345C>T (p.Thr22782Ile)
c.68264C>T (p.Thr22755Ile)
c.50027C>T (p.Thr16676Ile)
c.39881C>T (p.Thr13294Ile)
 gnomAD v4
2g.178569000G>CCA349612347TTN,TTN-AS1c.69428C>G (p.Thr23143Ser)
c.50513C>G (p.Thr16838Ser)
c.50312C>G (p.Thr16771Ser)
c.49937C>G (p.Thr16646Ser)
c.77132C>G (p.Thr25711Ser)
c.72209C>G (p.Thr24070Ser)
n.447-2300G>C
n.2044-13572G>C
c.76229C>G (p.Thr25410Ser)
c.50123C>G (p.Thr16708Ser)
c.49982C>G (p.Thr16661Ser)
c.76025C>G (p.Thr25342Ser)
c.71423C>G (p.Thr23808Ser)
c.71420C>G (p.Thr23807Ser)
c.68462C>G (p.Thr22821Ser)
c.50078C>G (p.Thr16693Ser)
c.71573C>G (p.Thr23858Ser)
c.71570C>G (p.Thr23857Ser)
c.71003C>G (p.Thr23668Ser)
c.68345C>G (p.Thr22782Ser)
c.68264C>G (p.Thr22755Ser)
c.50027C>G (p.Thr16676Ser)
c.39881C>G (p.Thr13294Ser)
2g.178569000G>TCA349612349TTN,TTN-AS1c.69428C>A (p.Thr23143Asn)
c.50513C>A (p.Thr16838Asn)
c.50312C>A (p.Thr16771Asn)
c.49937C>A (p.Thr16646Asn)
c.77132C>A (p.Thr25711Asn)
c.72209C>A (p.Thr24070Asn)
n.447-2300G>T
n.2044-13572G>T
c.76229C>A (p.Thr25410Asn)
c.50123C>A (p.Thr16708Asn)
c.49982C>A (p.Thr16661Asn)
c.76025C>A (p.Thr25342Asn)
c.71423C>A (p.Thr23808Asn)
c.71420C>A (p.Thr23807Asn)
c.68462C>A (p.Thr22821Asn)
c.50078C>A (p.Thr16693Asn)
c.71573C>A (p.Thr23858Asn)
c.71570C>A (p.Thr23857Asn)
c.71003C>A (p.Thr23668Asn)
c.68345C>A (p.Thr22782Asn)
c.68264C>A (p.Thr22755Asn)
c.50027C>A (p.Thr16676Asn)
c.39881C>A (p.Thr13294Asn)
2g.178569001T>ACA349612354TTN,TTN-AS1c.69427A>T (p.Thr23143Ser)
c.50512A>T (p.Thr16838Ser)
c.50311A>T (p.Thr16771Ser)
c.49936A>T (p.Thr16646Ser)
c.77131A>T (p.Thr25711Ser)
c.72208A>T (p.Thr24070Ser)
n.447-2299T>A
n.2044-13571T>A
c.76228A>T (p.Thr25410Ser)
c.50122A>T (p.Thr16708Ser)
c.49981A>T (p.Thr16661Ser)
c.76024A>T (p.Thr25342Ser)
c.71422A>T (p.Thr23808Ser)
c.71419A>T (p.Thr23807Ser)
c.68461A>T (p.Thr22821Ser)
c.50077A>T (p.Thr16693Ser)
c.71572A>T (p.Thr23858Ser)
c.71569A>T (p.Thr23857Ser)
c.71002A>T (p.Thr23668Ser)
c.68344A>T (p.Thr22782Ser)
c.68263A>T (p.Thr22755Ser)
c.50026A>T (p.Thr16676Ser)
c.39880A>T (p.Thr13294Ser)
2g.178569001T>CCA60993278TTN,TTN-AS1c.69427A>G (p.Thr23143Ala)
c.50512A>G (p.Thr16838Ala)
c.50311A>G (p.Thr16771Ala)
c.49936A>G (p.Thr16646Ala)
c.77131A>G (p.Thr25711Ala)
c.72208A>G (p.Thr24070Ala)
n.447-2299T>C
n.2044-13571T>C
c.76228A>G (p.Thr25410Ala)
c.50122A>G (p.Thr16708Ala)
c.49981A>G (p.Thr16661Ala)
c.76024A>G (p.Thr25342Ala)
c.71422A>G (p.Thr23808Ala)
c.71419A>G (p.Thr23807Ala)
c.68461A>G (p.Thr22821Ala)
c.50077A>G (p.Thr16693Ala)
c.71572A>G (p.Thr23858Ala)
c.71569A>G (p.Thr23857Ala)
c.71002A>G (p.Thr23668Ala)
c.68344A>G (p.Thr22782Ala)
c.68263A>G (p.Thr22755Ala)
c.50026A>G (p.Thr16676Ala)
c.39880A>G (p.Thr13294Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178569001T>GCA349612356TTN,TTN-AS1c.69427A>C (p.Thr23143Pro)
c.50512A>C (p.Thr16838Pro)
c.50311A>C (p.Thr16771Pro)
c.49936A>C (p.Thr16646Pro)
c.77131A>C (p.Thr25711Pro)
c.72208A>C (p.Thr24070Pro)
n.447-2299T>G
n.2044-13571T>G
c.76228A>C (p.Thr25410Pro)
c.50122A>C (p.Thr16708Pro)
c.49981A>C (p.Thr16661Pro)
c.76024A>C (p.Thr25342Pro)
c.71422A>C (p.Thr23808Pro)
c.71419A>C (p.Thr23807Pro)
c.68461A>C (p.Thr22821Pro)
c.50077A>C (p.Thr16693Pro)
c.71572A>C (p.Thr23858Pro)
c.71569A>C (p.Thr23857Pro)
c.71002A>C (p.Thr23668Pro)
c.68344A>C (p.Thr22782Pro)
c.68263A>C (p.Thr22755Pro)
c.50026A>C (p.Thr16676Pro)
c.39880A>C (p.Thr13294Pro)
2g.178569001T=CA1310530870TTN,TTN-AS1c.69427A= (p.Thr23143=)
c.50512A= (p.Thr16838=)
c.50311A= (p.Thr16771=)
c.49936A= (p.Thr16646=)
c.77131A= (p.Thr25711=)
c.72208A= (p.Thr24070=)
n.447-2299T=
n.2044-13571T=
c.76228A= (p.Thr25410=)
c.50122A= (p.Thr16708=)
c.49981A= (p.Thr16661=)
c.76024A= (p.Thr25342=)
c.71422A= (p.Thr23808=)
c.71419A= (p.Thr23807=)
c.68461A= (p.Thr22821=)
c.50077A= (p.Thr16693=)
c.71572A= (p.Thr23858=)
c.71569A= (p.Thr23857=)
c.71002A= (p.Thr23668=)
c.68344A= (p.Thr22782=)
c.68263A= (p.Thr22755=)
c.50026A= (p.Thr16676=)
c.39880A= (p.Thr13294=)
2g.178569002G>ACA430254018TTN,TTN-AS1c.69426C>T (p.Val23142=)
c.50511C>T (p.Val16837=)
c.50310C>T (p.Val16770=)
c.49935C>T (p.Val16645=)
c.77130C>T (p.Val25710=)
c.72207C>T (p.Val24069=)
n.447-2298G>A
n.2044-13570G>A
c.76227C>T (p.Val25409=)
c.50121C>T (p.Val16707=)
c.49980C>T (p.Val16660=)
c.76023C>T (p.Val25341=)
c.71421C>T (p.Val23807=)
c.71418C>T (p.Val23806=)
c.68460C>T (p.Val22820=)
c.50076C>T (p.Val16692=)
c.71571C>T (p.Val23857=)
c.71568C>T (p.Val23856=)
c.71001C>T (p.Val23667=)
c.68343C>T (p.Val22781=)
c.68262C>T (p.Val22754=)
c.50025C>T (p.Val16675=)
c.39879C>T (p.Val13293=)
2g.178569002G>CCA430254019TTN,TTN-AS1c.69426C>G (p.Val23142=)
c.50511C>G (p.Val16837=)
c.50310C>G (p.Val16770=)
c.49935C>G (p.Val16645=)
c.77130C>G (p.Val25710=)
c.72207C>G (p.Val24069=)
n.447-2298G>C
n.2044-13570G>C
c.76227C>G (p.Val25409=)
c.50121C>G (p.Val16707=)
c.49980C>G (p.Val16660=)
c.76023C>G (p.Val25341=)
c.71421C>G (p.Val23807=)
c.71418C>G (p.Val23806=)
c.68460C>G (p.Val22820=)
c.50076C>G (p.Val16692=)
c.71571C>G (p.Val23857=)
c.71568C>G (p.Val23856=)
c.71001C>G (p.Val23667=)
c.68343C>G (p.Val22781=)
c.68262C>G (p.Val22754=)
c.50025C>G (p.Val16675=)
c.39879C>G (p.Val13293=)
2g.178569002G>TCA430254020TTN,TTN-AS1c.69426C>A (p.Val23142=)
c.50511C>A (p.Val16837=)
c.50310C>A (p.Val16770=)
c.49935C>A (p.Val16645=)
c.77130C>A (p.Val25710=)
c.72207C>A (p.Val24069=)
n.447-2298G>T
n.2044-13570G>T
c.76227C>A (p.Val25409=)
c.50121C>A (p.Val16707=)
c.49980C>A (p.Val16660=)
c.76023C>A (p.Val25341=)
c.71421C>A (p.Val23807=)
c.71418C>A (p.Val23806=)
c.68460C>A (p.Val22820=)
c.50076C>A (p.Val16692=)
c.71571C>A (p.Val23857=)
c.71568C>A (p.Val23856=)
c.71001C>A (p.Val23667=)
c.68343C>A (p.Val22781=)
c.68262C>A (p.Val22754=)
c.50025C>A (p.Val16675=)
c.39879C>A (p.Val13293=)
2g.178569003delCA645515421TTN,TTN-AS1c.69425del (p.Val23142AlafsTer8)
c.50510del (p.Val16837AlafsTer8)
c.50309del (p.Val16770AlafsTer8)
c.49934del (p.Val16645AlafsTer8)
c.77129del (p.Val25710AlafsTer8)
c.72206del (p.Val24069AlafsTer8)
n.447-2297del
n.2044-13569del
c.76226del (p.Val25409AlafsTer8)
c.50120del (p.Val16707AlafsTer8)
c.49979del (p.Val16660AlafsTer8)
c.76022del (p.Val25341AlafsTer8)
c.71420del (p.Val23807AlafsTer8)
c.71417del (p.Val23806AlafsTer8)
c.68459del (p.Val22820AlafsTer8)
c.50075del (p.Val16692AlafsTer8)
c.71570del (p.Val23857AlafsTer8)
c.71567del (p.Val23856AlafsTer8)
c.71000del (p.Val23667AlafsTer8)
c.68342del (p.Val22781AlafsTer8)
c.68261del (p.Val22754AlafsTer8)
c.50024del (p.Val16675AlafsTer8)
c.39878del (p.Val13293AlafsTer8)
 COSMIC COSMIC COSMIC COSMIC
2g.178569003A>CCA349612358TTN,TTN-AS1c.69425T>G (p.Val23142Gly)
c.50510T>G (p.Val16837Gly)
c.50309T>G (p.Val16770Gly)
c.49934T>G (p.Val16645Gly)
c.77129T>G (p.Val25710Gly)
c.72206T>G (p.Val24069Gly)
n.447-2297A>C
n.2044-13569A>C
c.76226T>G (p.Val25409Gly)
c.50120T>G (p.Val16707Gly)
c.49979T>G (p.Val16660Gly)
c.76022T>G (p.Val25341Gly)
c.71420T>G (p.Val23807Gly)
c.71417T>G (p.Val23806Gly)
c.68459T>G (p.Val22820Gly)
c.50075T>G (p.Val16692Gly)
c.71570T>G (p.Val23857Gly)
c.71567T>G (p.Val23856Gly)
c.71000T>G (p.Val23667Gly)
c.68342T>G (p.Val22781Gly)
c.68261T>G (p.Val22754Gly)
c.50024T>G (p.Val16675Gly)
c.39878T>G (p.Val13293Gly)
2g.178569003A>GCA349612360TTN,TTN-AS1c.69425T>C (p.Val23142Ala)
c.50510T>C (p.Val16837Ala)
c.50309T>C (p.Val16770Ala)
c.49934T>C (p.Val16645Ala)
c.77129T>C (p.Val25710Ala)
c.72206T>C (p.Val24069Ala)
n.447-2297A>G
n.2044-13569A>G
c.76226T>C (p.Val25409Ala)
c.50120T>C (p.Val16707Ala)
c.49979T>C (p.Val16660Ala)
c.76022T>C (p.Val25341Ala)
c.71420T>C (p.Val23807Ala)
c.71417T>C (p.Val23806Ala)
c.68459T>C (p.Val22820Ala)
c.50075T>C (p.Val16692Ala)
c.71570T>C (p.Val23857Ala)
c.71567T>C (p.Val23856Ala)
c.71000T>C (p.Val23667Ala)
c.68342T>C (p.Val22781Ala)
c.68261T>C (p.Val22754Ala)
c.50024T>C (p.Val16675Ala)
c.39878T>C (p.Val13293Ala)
2g.178569003A>TCA349612361TTN,TTN-AS1c.69425T>A (p.Val23142Asp)
c.50510T>A (p.Val16837Asp)
c.50309T>A (p.Val16770Asp)
c.49934T>A (p.Val16645Asp)
c.77129T>A (p.Val25710Asp)
c.72206T>A (p.Val24069Asp)
n.447-2297A>T
n.2044-13569A>T
c.76226T>A (p.Val25409Asp)
c.50120T>A (p.Val16707Asp)
c.49979T>A (p.Val16660Asp)
c.76022T>A (p.Val25341Asp)
c.71420T>A (p.Val23807Asp)
c.71417T>A (p.Val23806Asp)
c.68459T>A (p.Val22820Asp)
c.50075T>A (p.Val16692Asp)
c.71570T>A (p.Val23857Asp)
c.71567T>A (p.Val23856Asp)
c.71000T>A (p.Val23667Asp)
c.68342T>A (p.Val22781Asp)
c.68261T>A (p.Val22754Asp)
c.50024T>A (p.Val16675Asp)
c.39878T>A (p.Val13293Asp)
2g.178569004C>ACA349612363TTN,TTN-AS1c.69424G>T (p.Val23142Phe)
c.50509G>T (p.Val16837Phe)
c.50308G>T (p.Val16770Phe)
c.49933G>T (p.Val16645Phe)
c.77128G>T (p.Val25710Phe)
c.72205G>T (p.Val24069Phe)
n.447-2296C>A
n.2044-13568C>A
c.76225G>T (p.Val25409Phe)
c.50119G>T (p.Val16707Phe)
c.49978G>T (p.Val16660Phe)
c.76021G>T (p.Val25341Phe)
c.71419G>T (p.Val23807Phe)
c.71416G>T (p.Val23806Phe)
c.68458G>T (p.Val22820Phe)
c.50074G>T (p.Val16692Phe)
c.71569G>T (p.Val23857Phe)
c.71566G>T (p.Val23856Phe)
c.70999G>T (p.Val23667Phe)
c.68341G>T (p.Val22781Phe)
c.68260G>T (p.Val22754Phe)
c.50023G>T (p.Val16675Phe)
c.39877G>T (p.Val13293Phe)
2g.178569004C=CA1310530872TTN,TTN-AS1c.69424G= (p.Val23142=)
c.50509G= (p.Val16837=)
c.50308G= (p.Val16770=)
c.49933G= (p.Val16645=)
c.77128G= (p.Val25710=)
c.72205G= (p.Val24069=)
n.447-2296C=
n.2044-13568C=
c.76225G= (p.Val25409=)
c.50119G= (p.Val16707=)
c.49978G= (p.Val16660=)
c.76021G= (p.Val25341=)
c.71419G= (p.Val23807=)
c.71416G= (p.Val23806=)
c.68458G= (p.Val22820=)
c.50074G= (p.Val16692=)
c.71569G= (p.Val23857=)
c.71566G= (p.Val23856=)
c.70999G= (p.Val23667=)
c.68341G= (p.Val22781=)
c.68260G= (p.Val22754=)
c.50023G= (p.Val16675=)
c.39877G= (p.Val13293=)
2g.178569004C>GCA349612365TTN,TTN-AS1c.69424G>C (p.Val23142Leu)
c.50509G>C (p.Val16837Leu)
c.50308G>C (p.Val16770Leu)
c.49933G>C (p.Val16645Leu)
c.77128G>C (p.Val25710Leu)
c.72205G>C (p.Val24069Leu)
n.447-2296C>G
n.2044-13568C>G
c.76225G>C (p.Val25409Leu)
c.50119G>C (p.Val16707Leu)
c.49978G>C (p.Val16660Leu)
c.76021G>C (p.Val25341Leu)
c.71419G>C (p.Val23807Leu)
c.71416G>C (p.Val23806Leu)
c.68458G>C (p.Val22820Leu)
c.50074G>C (p.Val16692Leu)
c.71569G>C (p.Val23857Leu)
c.71566G>C (p.Val23856Leu)
c.70999G>C (p.Val23667Leu)
c.68341G>C (p.Val22781Leu)
c.68260G>C (p.Val22754Leu)
c.50023G>C (p.Val16675Leu)
c.39877G>C (p.Val13293Leu)
2g.178569004C>TCA349612366TTN,TTN-AS1c.69424G>A (p.Val23142Ile)
c.50509G>A (p.Val16837Ile)
c.50308G>A (p.Val16770Ile)
c.49933G>A (p.Val16645Ile)
c.77128G>A (p.Val25710Ile)
c.72205G>A (p.Val24069Ile)
n.447-2296C>T
n.2044-13568C>T
c.76225G>A (p.Val25409Ile)
c.50119G>A (p.Val16707Ile)
c.49978G>A (p.Val16660Ile)
c.76021G>A (p.Val25341Ile)
c.71419G>A (p.Val23807Ile)
c.71416G>A (p.Val23806Ile)
c.68458G>A (p.Val22820Ile)
c.50074G>A (p.Val16692Ile)
c.71569G>A (p.Val23857Ile)
c.71566G>A (p.Val23856Ile)
c.70999G>A (p.Val23667Ile)
c.68341G>A (p.Val22781Ile)
c.68260G>A (p.Val22754Ile)
c.50023G>A (p.Val16675Ile)
c.39877G>A (p.Val13293Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178569005A>CCA349612369TTN,TTN-AS1c.69423T>G (p.Asp23141Glu)
c.50508T>G (p.Asp16836Glu)
c.50307T>G (p.Asp16769Glu)
c.49932T>G (p.Asp16644Glu)
c.77127T>G (p.Asp25709Glu)
c.72204T>G (p.Asp24068Glu)
n.447-2295A>C
n.2044-13567A>C
c.76224T>G (p.Asp25408Glu)
c.50118T>G (p.Asp16706Glu)
c.49977T>G (p.Asp16659Glu)
c.76020T>G (p.Asp25340Glu)
c.71418T>G (p.Asp23806Glu)
c.71415T>G (p.Asp23805Glu)
c.68457T>G (p.Asp22819Glu)
c.50073T>G (p.Asp16691Glu)
c.71568T>G (p.Asp23856Glu)
c.71565T>G (p.Asp23855Glu)
c.70998T>G (p.Asp23666Glu)
c.68340T>G (p.Asp22780Glu)
c.68259T>G (p.Asp22753Glu)
c.50022T>G (p.Asp16674Glu)
c.39876T>G (p.Asp13292Glu)
2g.178569005A>GCA430254028TTN,TTN-AS1c.69423T>C (p.Asp23141=)
c.50508T>C (p.Asp16836=)
c.50307T>C (p.Asp16769=)
c.49932T>C (p.Asp16644=)
c.77127T>C (p.Asp25709=)
c.72204T>C (p.Asp24068=)
n.447-2295A>G
n.2044-13567A>G
c.76224T>C (p.Asp25408=)
c.50118T>C (p.Asp16706=)
c.49977T>C (p.Asp16659=)
c.76020T>C (p.Asp25340=)
c.71418T>C (p.Asp23806=)
c.71415T>C (p.Asp23805=)
c.68457T>C (p.Asp22819=)
c.50073T>C (p.Asp16691=)
c.71568T>C (p.Asp23856=)
c.71565T>C (p.Asp23855=)
c.70998T>C (p.Asp23666=)
c.68340T>C (p.Asp22780=)
c.68259T>C (p.Asp22753=)
c.50022T>C (p.Asp16674=)
c.39876T>C (p.Asp13292=)
2g.178569005A>TCA349612371TTN,TTN-AS1c.69423T>A (p.Asp23141Glu)
c.50508T>A (p.Asp16836Glu)
c.50307T>A (p.Asp16769Glu)
c.49932T>A (p.Asp16644Glu)
c.77127T>A (p.Asp25709Glu)
c.72204T>A (p.Asp24068Glu)
n.447-2295A>T
n.2044-13567A>T
c.76224T>A (p.Asp25408Glu)
c.50118T>A (p.Asp16706Glu)
c.49977T>A (p.Asp16659Glu)
c.76020T>A (p.Asp25340Glu)
c.71418T>A (p.Asp23806Glu)
c.71415T>A (p.Asp23805Glu)
c.68457T>A (p.Asp22819Glu)
c.50073T>A (p.Asp16691Glu)
c.71568T>A (p.Asp23856Glu)
c.71565T>A (p.Asp23855Glu)
c.70998T>A (p.Asp23666Glu)
c.68340T>A (p.Asp22780Glu)
c.68259T>A (p.Asp22753Glu)
c.50022T>A (p.Asp16674Glu)
c.39876T>A (p.Asp13292Glu)

Number of alleles fetched