Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178579295C>ACA349423092TTN,TTN-AS1c.60031G>T (p.Ala20011Ser)
c.41116G>T (p.Ala13706Ser)
c.40915G>T (p.Ala13639Ser)
c.40540G>T (p.Ala13514Ser)
c.67735G>T (p.Ala22579Ser)
c.62812G>T (p.Ala20938Ser)
n.596+7846C>A
n.2044-3277C>A
c.66832G>T (p.Ala22278Ser)
c.40726G>T (p.Ala13576Ser)
c.40585G>T (p.Ala13529Ser)
c.66628G>T (p.Ala22210Ser)
c.62026G>T (p.Ala20676Ser)
c.62023G>T (p.Ala20675Ser)
c.59065G>T (p.Ala19689Ser)
c.40681G>T (p.Ala13561Ser)
c.62176G>T (p.Ala20726Ser)
c.62173G>T (p.Ala20725Ser)
c.61606G>T (p.Ala20536Ser)
c.58948G>T (p.Ala19650Ser)
c.58867G>T (p.Ala19623Ser)
c.40630G>T (p.Ala13544Ser)
c.30484G>T (p.Ala10162Ser)
2g.178579295C=CA1310534337TTN,TTN-AS1c.60031G= (p.Ala20011=)
c.41116G= (p.Ala13706=)
c.40915G= (p.Ala13639=)
c.40540G= (p.Ala13514=)
c.67735G= (p.Ala22579=)
c.62812G= (p.Ala20938=)
n.596+7846C=
n.2044-3277C=
c.66832G= (p.Ala22278=)
c.40726G= (p.Ala13576=)
c.40585G= (p.Ala13529=)
c.66628G= (p.Ala22210=)
c.62026G= (p.Ala20676=)
c.62023G= (p.Ala20675=)
c.59065G= (p.Ala19689=)
c.40681G= (p.Ala13561=)
c.62176G= (p.Ala20726=)
c.62173G= (p.Ala20725=)
c.61606G= (p.Ala20536=)
c.58948G= (p.Ala19650=)
c.58867G= (p.Ala19623=)
c.40630G= (p.Ala13544=)
c.30484G= (p.Ala10162=)
2g.178579295C>GCA349423093TTN,TTN-AS1c.60031G>C (p.Ala20011Pro)
c.41116G>C (p.Ala13706Pro)
c.40915G>C (p.Ala13639Pro)
c.40540G>C (p.Ala13514Pro)
c.67735G>C (p.Ala22579Pro)
c.62812G>C (p.Ala20938Pro)
n.596+7846C>G
n.2044-3277C>G
c.66832G>C (p.Ala22278Pro)
c.40726G>C (p.Ala13576Pro)
c.40585G>C (p.Ala13529Pro)
c.66628G>C (p.Ala22210Pro)
c.62026G>C (p.Ala20676Pro)
c.62023G>C (p.Ala20675Pro)
c.59065G>C (p.Ala19689Pro)
c.40681G>C (p.Ala13561Pro)
c.62176G>C (p.Ala20726Pro)
c.62173G>C (p.Ala20725Pro)
c.61606G>C (p.Ala20536Pro)
c.58948G>C (p.Ala19650Pro)
c.58867G>C (p.Ala19623Pro)
c.40630G>C (p.Ala13544Pro)
c.30484G>C (p.Ala10162Pro)
 dbSNP
2g.178579295C>TCA349423094TTN,TTN-AS1c.60031G>A (p.Ala20011Thr)
c.41116G>A (p.Ala13706Thr)
c.40915G>A (p.Ala13639Thr)
c.40540G>A (p.Ala13514Thr)
c.67735G>A (p.Ala22579Thr)
c.62812G>A (p.Ala20938Thr)
n.596+7846C>T
n.2044-3277C>T
c.66832G>A (p.Ala22278Thr)
c.40726G>A (p.Ala13576Thr)
c.40585G>A (p.Ala13529Thr)
c.66628G>A (p.Ala22210Thr)
c.62026G>A (p.Ala20676Thr)
c.62023G>A (p.Ala20675Thr)
c.59065G>A (p.Ala19689Thr)
c.40681G>A (p.Ala13561Thr)
c.62176G>A (p.Ala20726Thr)
c.62173G>A (p.Ala20725Thr)
c.61606G>A (p.Ala20536Thr)
c.58948G>A (p.Ala19650Thr)
c.58867G>A (p.Ala19623Thr)
c.40630G>A (p.Ala13544Thr)
c.30484G>A (p.Ala10162Thr)
2g.178579296T>ACA430260528TTN,TTN-AS1c.60030A>T (p.Pro20010=)
c.41115A>T (p.Pro13705=)
c.40914A>T (p.Pro13638=)
c.40539A>T (p.Pro13513=)
c.67734A>T (p.Pro22578=)
c.62811A>T (p.Pro20937=)
n.596+7847T>A
n.2044-3276T>A
c.66831A>T (p.Pro22277=)
c.40725A>T (p.Pro13575=)
c.40584A>T (p.Pro13528=)
c.66627A>T (p.Pro22209=)
c.62025A>T (p.Pro20675=)
c.62022A>T (p.Pro20674=)
c.59064A>T (p.Pro19688=)
c.40680A>T (p.Pro13560=)
c.62175A>T (p.Pro20725=)
c.62172A>T (p.Pro20724=)
c.61605A>T (p.Pro20535=)
c.58947A>T (p.Pro19649=)
c.58866A>T (p.Pro19622=)
c.40629A>T (p.Pro13543=)
c.30483A>T (p.Pro10161=)
2g.178579296T>CCA430260529TTN,TTN-AS1c.60030A>G (p.Pro20010=)
c.41115A>G (p.Pro13705=)
c.40914A>G (p.Pro13638=)
c.40539A>G (p.Pro13513=)
c.67734A>G (p.Pro22578=)
c.62811A>G (p.Pro20937=)
n.596+7847T>C
n.2044-3276T>C
c.66831A>G (p.Pro22277=)
c.40725A>G (p.Pro13575=)
c.40584A>G (p.Pro13528=)
c.66627A>G (p.Pro22209=)
c.62025A>G (p.Pro20675=)
c.62022A>G (p.Pro20674=)
c.59064A>G (p.Pro19688=)
c.40680A>G (p.Pro13560=)
c.62175A>G (p.Pro20725=)
c.62172A>G (p.Pro20724=)
c.61605A>G (p.Pro20535=)
c.58947A>G (p.Pro19649=)
c.58866A>G (p.Pro19622=)
c.40629A>G (p.Pro13543=)
c.30483A>G (p.Pro10161=)
2g.178579296T>GCA430260530TTN,TTN-AS1c.60030A>C (p.Pro20010=)
c.41115A>C (p.Pro13705=)
c.40914A>C (p.Pro13638=)
c.40539A>C (p.Pro13513=)
c.67734A>C (p.Pro22578=)
c.62811A>C (p.Pro20937=)
n.596+7847T>G
n.2044-3276T>G
c.66831A>C (p.Pro22277=)
c.40725A>C (p.Pro13575=)
c.40584A>C (p.Pro13528=)
c.66627A>C (p.Pro22209=)
c.62025A>C (p.Pro20675=)
c.62022A>C (p.Pro20674=)
c.59064A>C (p.Pro19688=)
c.40680A>C (p.Pro13560=)
c.62175A>C (p.Pro20725=)
c.62172A>C (p.Pro20724=)
c.61605A>C (p.Pro20535=)
c.58947A>C (p.Pro19649=)
c.58866A>C (p.Pro19622=)
c.40629A>C (p.Pro13543=)
c.30483A>C (p.Pro10161=)
2g.178579297G>ACA349423095TTN,TTN-AS1c.60029C>T (p.Pro20010Leu)
c.41114C>T (p.Pro13705Leu)
c.40913C>T (p.Pro13638Leu)
c.40538C>T (p.Pro13513Leu)
c.67733C>T (p.Pro22578Leu)
c.62810C>T (p.Pro20937Leu)
n.596+7848G>A
n.2044-3275G>A
c.66830C>T (p.Pro22277Leu)
c.40724C>T (p.Pro13575Leu)
c.40583C>T (p.Pro13528Leu)
c.66626C>T (p.Pro22209Leu)
c.62024C>T (p.Pro20675Leu)
c.62021C>T (p.Pro20674Leu)
c.59063C>T (p.Pro19688Leu)
c.40679C>T (p.Pro13560Leu)
c.62174C>T (p.Pro20725Leu)
c.62171C>T (p.Pro20724Leu)
c.61604C>T (p.Pro20535Leu)
c.58946C>T (p.Pro19649Leu)
c.58865C>T (p.Pro19622Leu)
c.40628C>T (p.Pro13543Leu)
c.30482C>T (p.Pro10161Leu)
2g.178579297G>CCA349423096TTN,TTN-AS1c.60029C>G (p.Pro20010Arg)
c.41114C>G (p.Pro13705Arg)
c.40913C>G (p.Pro13638Arg)
c.40538C>G (p.Pro13513Arg)
c.67733C>G (p.Pro22578Arg)
c.62810C>G (p.Pro20937Arg)
n.596+7848G>C
n.2044-3275G>C
c.66830C>G (p.Pro22277Arg)
c.40724C>G (p.Pro13575Arg)
c.40583C>G (p.Pro13528Arg)
c.66626C>G (p.Pro22209Arg)
c.62024C>G (p.Pro20675Arg)
c.62021C>G (p.Pro20674Arg)
c.59063C>G (p.Pro19688Arg)
c.40679C>G (p.Pro13560Arg)
c.62174C>G (p.Pro20725Arg)
c.62171C>G (p.Pro20724Arg)
c.61604C>G (p.Pro20535Arg)
c.58946C>G (p.Pro19649Arg)
c.58865C>G (p.Pro19622Arg)
c.40628C>G (p.Pro13543Arg)
c.30482C>G (p.Pro10161Arg)
2g.178579297G>TCA349423097TTN,TTN-AS1c.60029C>A (p.Pro20010Gln)
c.41114C>A (p.Pro13705Gln)
c.40913C>A (p.Pro13638Gln)
c.40538C>A (p.Pro13513Gln)
c.67733C>A (p.Pro22578Gln)
c.62810C>A (p.Pro20937Gln)
n.596+7848G>T
n.2044-3275G>T
c.66830C>A (p.Pro22277Gln)
c.40724C>A (p.Pro13575Gln)
c.40583C>A (p.Pro13528Gln)
c.66626C>A (p.Pro22209Gln)
c.62024C>A (p.Pro20675Gln)
c.62021C>A (p.Pro20674Gln)
c.59063C>A (p.Pro19688Gln)
c.40679C>A (p.Pro13560Gln)
c.62174C>A (p.Pro20725Gln)
c.62171C>A (p.Pro20724Gln)
c.61604C>A (p.Pro20535Gln)
c.58946C>A (p.Pro19649Gln)
c.58865C>A (p.Pro19622Gln)
c.40628C>A (p.Pro13543Gln)
c.30482C>A (p.Pro10161Gln)
2g.178579298G>ACA349423098TTN,TTN-AS1c.60028C>T (p.Pro20010Ser)
c.41113C>T (p.Pro13705Ser)
c.40912C>T (p.Pro13638Ser)
c.40537C>T (p.Pro13513Ser)
c.67732C>T (p.Pro22578Ser)
c.62809C>T (p.Pro20937Ser)
n.596+7849G>A
n.2044-3274G>A
c.66829C>T (p.Pro22277Ser)
c.40723C>T (p.Pro13575Ser)
c.40582C>T (p.Pro13528Ser)
c.66625C>T (p.Pro22209Ser)
c.62023C>T (p.Pro20675Ser)
c.62020C>T (p.Pro20674Ser)
c.59062C>T (p.Pro19688Ser)
c.40678C>T (p.Pro13560Ser)
c.62173C>T (p.Pro20725Ser)
c.62170C>T (p.Pro20724Ser)
c.61603C>T (p.Pro20535Ser)
c.58945C>T (p.Pro19649Ser)
c.58864C>T (p.Pro19622Ser)
c.40627C>T (p.Pro13543Ser)
c.30481C>T (p.Pro10161Ser)
2g.178579298G>CCA349423099TTN,TTN-AS1c.60028C>G (p.Pro20010Ala)
c.41113C>G (p.Pro13705Ala)
c.40912C>G (p.Pro13638Ala)
c.40537C>G (p.Pro13513Ala)
c.67732C>G (p.Pro22578Ala)
c.62809C>G (p.Pro20937Ala)
n.596+7849G>C
n.2044-3274G>C
c.66829C>G (p.Pro22277Ala)
c.40723C>G (p.Pro13575Ala)
c.40582C>G (p.Pro13528Ala)
c.66625C>G (p.Pro22209Ala)
c.62023C>G (p.Pro20675Ala)
c.62020C>G (p.Pro20674Ala)
c.59062C>G (p.Pro19688Ala)
c.40678C>G (p.Pro13560Ala)
c.62173C>G (p.Pro20725Ala)
c.62170C>G (p.Pro20724Ala)
c.61603C>G (p.Pro20535Ala)
c.58945C>G (p.Pro19649Ala)
c.58864C>G (p.Pro19622Ala)
c.40627C>G (p.Pro13543Ala)
c.30481C>G (p.Pro10161Ala)
2g.178579298G>TCA349423100TTN,TTN-AS1c.60028C>A (p.Pro20010Thr)
c.41113C>A (p.Pro13705Thr)
c.40912C>A (p.Pro13638Thr)
c.40537C>A (p.Pro13513Thr)
c.67732C>A (p.Pro22578Thr)
c.62809C>A (p.Pro20937Thr)
n.596+7849G>T
n.2044-3274G>T
c.66829C>A (p.Pro22277Thr)
c.40723C>A (p.Pro13575Thr)
c.40582C>A (p.Pro13528Thr)
c.66625C>A (p.Pro22209Thr)
c.62023C>A (p.Pro20675Thr)
c.62020C>A (p.Pro20674Thr)
c.59062C>A (p.Pro19688Thr)
c.40678C>A (p.Pro13560Thr)
c.62173C>A (p.Pro20725Thr)
c.62170C>A (p.Pro20724Thr)
c.61603C>A (p.Pro20535Thr)
c.58945C>A (p.Pro19649Thr)
c.58864C>A (p.Pro19622Thr)
c.40627C>A (p.Pro13543Thr)
c.30481C>A (p.Pro10161Thr)
2g.178579299C>ACA349423101TTN,TTN-AS1c.60027G>T (p.Lys20009Asn)
c.41112G>T (p.Lys13704Asn)
c.40911G>T (p.Lys13637Asn)
c.40536G>T (p.Lys13512Asn)
c.67731G>T (p.Lys22577Asn)
c.62808G>T (p.Lys20936Asn)
n.596+7850C>A
n.2044-3273C>A
c.66828G>T (p.Lys22276Asn)
c.40722G>T (p.Lys13574Asn)
c.40581G>T (p.Lys13527Asn)
c.66624G>T (p.Lys22208Asn)
c.62022G>T (p.Lys20674Asn)
c.62019G>T (p.Lys20673Asn)
c.59061G>T (p.Lys19687Asn)
c.40677G>T (p.Lys13559Asn)
c.62172G>T (p.Lys20724Asn)
c.62169G>T (p.Lys20723Asn)
c.61602G>T (p.Lys20534Asn)
c.58944G>T (p.Lys19648Asn)
c.58863G>T (p.Lys19621Asn)
c.40626G>T (p.Lys13542Asn)
c.30480G>T (p.Lys10160Asn)
2g.178579299C=CA1310534338TTN,TTN-AS1c.60027G= (p.Lys20009=)
c.41112G= (p.Lys13704=)
c.40911G= (p.Lys13637=)
c.40536G= (p.Lys13512=)
c.67731G= (p.Lys22577=)
c.62808G= (p.Lys20936=)
n.596+7850C=
n.2044-3273C=
c.66828G= (p.Lys22276=)
c.40722G= (p.Lys13574=)
c.40581G= (p.Lys13527=)
c.66624G= (p.Lys22208=)
c.62022G= (p.Lys20674=)
c.62019G= (p.Lys20673=)
c.59061G= (p.Lys19687=)
c.40677G= (p.Lys13559=)
c.62172G= (p.Lys20724=)
c.62169G= (p.Lys20723=)
c.61602G= (p.Lys20534=)
c.58944G= (p.Lys19648=)
c.58863G= (p.Lys19621=)
c.40626G= (p.Lys13542=)
c.30480G= (p.Lys10160=)
2g.178579299C>GCA349423102TTN,TTN-AS1c.60027G>C (p.Lys20009Asn)
c.41112G>C (p.Lys13704Asn)
c.40911G>C (p.Lys13637Asn)
c.40536G>C (p.Lys13512Asn)
c.67731G>C (p.Lys22577Asn)
c.62808G>C (p.Lys20936Asn)
n.596+7850C>G
n.2044-3273C>G
c.66828G>C (p.Lys22276Asn)
c.40722G>C (p.Lys13574Asn)
c.40581G>C (p.Lys13527Asn)
c.66624G>C (p.Lys22208Asn)
c.62022G>C (p.Lys20674Asn)
c.62019G>C (p.Lys20673Asn)
c.59061G>C (p.Lys19687Asn)
c.40677G>C (p.Lys13559Asn)
c.62172G>C (p.Lys20724Asn)
c.62169G>C (p.Lys20723Asn)
c.61602G>C (p.Lys20534Asn)
c.58944G>C (p.Lys19648Asn)
c.58863G>C (p.Lys19621Asn)
c.40626G>C (p.Lys13542Asn)
c.30480G>C (p.Lys10160Asn)
2g.178579299C>TCA430260546TTN,TTN-AS1c.60027G>A (p.Lys20009=)
c.41112G>A (p.Lys13704=)
c.40911G>A (p.Lys13637=)
c.40536G>A (p.Lys13512=)
c.67731G>A (p.Lys22577=)
c.62808G>A (p.Lys20936=)
n.596+7850C>T
n.2044-3273C>T
c.66828G>A (p.Lys22276=)
c.40722G>A (p.Lys13574=)
c.40581G>A (p.Lys13527=)
c.66624G>A (p.Lys22208=)
c.62022G>A (p.Lys20674=)
c.62019G>A (p.Lys20673=)
c.59061G>A (p.Lys19687=)
c.40677G>A (p.Lys13559=)
c.62172G>A (p.Lys20724=)
c.62169G>A (p.Lys20723=)
c.61602G>A (p.Lys20534=)
c.58944G>A (p.Lys19648=)
c.58863G>A (p.Lys19621=)
c.40626G>A (p.Lys13542=)
c.30480G>A (p.Lys10160=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178579300T>ACA349423104TTN,TTN-AS1c.60026A>T (p.Lys20009Met)
c.41111A>T (p.Lys13704Met)
c.40910A>T (p.Lys13637Met)
c.40535A>T (p.Lys13512Met)
c.67730A>T (p.Lys22577Met)
c.62807A>T (p.Lys20936Met)
n.596+7851T>A
n.2044-3272T>A
c.66827A>T (p.Lys22276Met)
c.40721A>T (p.Lys13574Met)
c.40580A>T (p.Lys13527Met)
c.66623A>T (p.Lys22208Met)
c.62021A>T (p.Lys20674Met)
c.62018A>T (p.Lys20673Met)
c.59060A>T (p.Lys19687Met)
c.40676A>T (p.Lys13559Met)
c.62171A>T (p.Lys20724Met)
c.62168A>T (p.Lys20723Met)
c.61601A>T (p.Lys20534Met)
c.58943A>T (p.Lys19648Met)
c.58862A>T (p.Lys19621Met)
c.40625A>T (p.Lys13542Met)
c.30479A>T (p.Lys10160Met)
2g.178579300T>CCA349423105TTN,TTN-AS1c.60026A>G (p.Lys20009Arg)
c.41111A>G (p.Lys13704Arg)
c.40910A>G (p.Lys13637Arg)
c.40535A>G (p.Lys13512Arg)
c.67730A>G (p.Lys22577Arg)
c.62807A>G (p.Lys20936Arg)
n.596+7851T>C
n.2044-3272T>C
c.66827A>G (p.Lys22276Arg)
c.40721A>G (p.Lys13574Arg)
c.40580A>G (p.Lys13527Arg)
c.66623A>G (p.Lys22208Arg)
c.62021A>G (p.Lys20674Arg)
c.62018A>G (p.Lys20673Arg)
c.59060A>G (p.Lys19687Arg)
c.40676A>G (p.Lys13559Arg)
c.62171A>G (p.Lys20724Arg)
c.62168A>G (p.Lys20723Arg)
c.61601A>G (p.Lys20534Arg)
c.58943A>G (p.Lys19648Arg)
c.58862A>G (p.Lys19621Arg)
c.40625A>G (p.Lys13542Arg)
c.30479A>G (p.Lys10160Arg)
2g.178579300T>GCA349423103TTN,TTN-AS1c.60026A>C (p.Lys20009Thr)
c.41111A>C (p.Lys13704Thr)
c.40910A>C (p.Lys13637Thr)
c.40535A>C (p.Lys13512Thr)
c.67730A>C (p.Lys22577Thr)
c.62807A>C (p.Lys20936Thr)
n.596+7851T>G
n.2044-3272T>G
c.66827A>C (p.Lys22276Thr)
c.40721A>C (p.Lys13574Thr)
c.40580A>C (p.Lys13527Thr)
c.66623A>C (p.Lys22208Thr)
c.62021A>C (p.Lys20674Thr)
c.62018A>C (p.Lys20673Thr)
c.59060A>C (p.Lys19687Thr)
c.40676A>C (p.Lys13559Thr)
c.62171A>C (p.Lys20724Thr)
c.62168A>C (p.Lys20723Thr)
c.61601A>C (p.Lys20534Thr)
c.58943A>C (p.Lys19648Thr)
c.58862A>C (p.Lys19621Thr)
c.40625A>C (p.Lys13542Thr)
c.30479A>C (p.Lys10160Thr)
2g.178579301T>ACA349423106TTN,TTN-AS1c.60025A>T (p.Lys20009Ter)
c.41110A>T (p.Lys13704Ter)
c.40909A>T (p.Lys13637Ter)
c.40534A>T (p.Lys13512Ter)
c.67729A>T (p.Lys22577Ter)
c.62806A>T (p.Lys20936Ter)
n.596+7852T>A
n.2044-3271T>A
c.66826A>T (p.Lys22276Ter)
c.40720A>T (p.Lys13574Ter)
c.40579A>T (p.Lys13527Ter)
c.66622A>T (p.Lys22208Ter)
c.62020A>T (p.Lys20674Ter)
c.62017A>T (p.Lys20673Ter)
c.59059A>T (p.Lys19687Ter)
c.40675A>T (p.Lys13559Ter)
c.62170A>T (p.Lys20724Ter)
c.62167A>T (p.Lys20723Ter)
c.61600A>T (p.Lys20534Ter)
c.58942A>T (p.Lys19648Ter)
c.58861A>T (p.Lys19621Ter)
c.40624A>T (p.Lys13542Ter)
c.30478A>T (p.Lys10160Ter)
2g.178579301T>CCA349423107TTN,TTN-AS1c.60025A>G (p.Lys20009Glu)
c.41110A>G (p.Lys13704Glu)
c.40909A>G (p.Lys13637Glu)
c.40534A>G (p.Lys13512Glu)
c.67729A>G (p.Lys22577Glu)
c.62806A>G (p.Lys20936Glu)
n.596+7852T>C
n.2044-3271T>C
c.66826A>G (p.Lys22276Glu)
c.40720A>G (p.Lys13574Glu)
c.40579A>G (p.Lys13527Glu)
c.66622A>G (p.Lys22208Glu)
c.62020A>G (p.Lys20674Glu)
c.62017A>G (p.Lys20673Glu)
c.59059A>G (p.Lys19687Glu)
c.40675A>G (p.Lys13559Glu)
c.62170A>G (p.Lys20724Glu)
c.62167A>G (p.Lys20723Glu)
c.61600A>G (p.Lys20534Glu)
c.58942A>G (p.Lys19648Glu)
c.58861A>G (p.Lys19621Glu)
c.40624A>G (p.Lys13542Glu)
c.30478A>G (p.Lys10160Glu)
2g.178579301T>GCA349423108TTN,TTN-AS1c.60025A>C (p.Lys20009Gln)
c.41110A>C (p.Lys13704Gln)
c.40909A>C (p.Lys13637Gln)
c.40534A>C (p.Lys13512Gln)
c.67729A>C (p.Lys22577Gln)
c.62806A>C (p.Lys20936Gln)
n.596+7852T>G
n.2044-3271T>G
c.66826A>C (p.Lys22276Gln)
c.40720A>C (p.Lys13574Gln)
c.40579A>C (p.Lys13527Gln)
c.66622A>C (p.Lys22208Gln)
c.62020A>C (p.Lys20674Gln)
c.62017A>C (p.Lys20673Gln)
c.59059A>C (p.Lys19687Gln)
c.40675A>C (p.Lys13559Gln)
c.62170A>C (p.Lys20724Gln)
c.62167A>C (p.Lys20723Gln)
c.61600A>C (p.Lys20534Gln)
c.58942A>C (p.Lys19648Gln)
c.58861A>C (p.Lys19621Gln)
c.40624A>C (p.Lys13542Gln)
c.30478A>C (p.Lys10160Gln)
2g.178579302G>ACA430260565TTN,TTN-AS1c.60024C>T (p.Gly20008=)
c.41109C>T (p.Gly13703=)
c.40908C>T (p.Gly13636=)
c.40533C>T (p.Gly13511=)
c.67728C>T (p.Gly22576=)
c.62805C>T (p.Gly20935=)
n.596+7853G>A
n.2044-3270G>A
c.66825C>T (p.Gly22275=)
c.40719C>T (p.Gly13573=)
c.40578C>T (p.Gly13526=)
c.66621C>T (p.Gly22207=)
c.62019C>T (p.Gly20673=)
c.62016C>T (p.Gly20672=)
c.59058C>T (p.Gly19686=)
c.40674C>T (p.Gly13558=)
c.62169C>T (p.Gly20723=)
c.62166C>T (p.Gly20722=)
c.61599C>T (p.Gly20533=)
c.58941C>T (p.Gly19647=)
c.58860C>T (p.Gly19620=)
c.40623C>T (p.Gly13541=)
c.30477C>T (p.Gly10159=)
2g.178579302G>CCA430260567TTN,TTN-AS1c.60024C>G (p.Gly20008=)
c.41109C>G (p.Gly13703=)
c.40908C>G (p.Gly13636=)
c.40533C>G (p.Gly13511=)
c.67728C>G (p.Gly22576=)
c.62805C>G (p.Gly20935=)
n.596+7853G>C
n.2044-3270G>C
c.66825C>G (p.Gly22275=)
c.40719C>G (p.Gly13573=)
c.40578C>G (p.Gly13526=)
c.66621C>G (p.Gly22207=)
c.62019C>G (p.Gly20673=)
c.62016C>G (p.Gly20672=)
c.59058C>G (p.Gly19686=)
c.40674C>G (p.Gly13558=)
c.62169C>G (p.Gly20723=)
c.62166C>G (p.Gly20722=)
c.61599C>G (p.Gly20533=)
c.58941C>G (p.Gly19647=)
c.58860C>G (p.Gly19620=)
c.40623C>G (p.Gly13541=)
c.30477C>G (p.Gly10159=)
2g.178579302G>TCA430260569TTN,TTN-AS1c.60024C>A (p.Gly20008=)
c.41109C>A (p.Gly13703=)
c.40908C>A (p.Gly13636=)
c.40533C>A (p.Gly13511=)
c.67728C>A (p.Gly22576=)
c.62805C>A (p.Gly20935=)
n.596+7853G>T
n.2044-3270G>T
c.66825C>A (p.Gly22275=)
c.40719C>A (p.Gly13573=)
c.40578C>A (p.Gly13526=)
c.66621C>A (p.Gly22207=)
c.62019C>A (p.Gly20673=)
c.62016C>A (p.Gly20672=)
c.59058C>A (p.Gly19686=)
c.40674C>A (p.Gly13558=)
c.62169C>A (p.Gly20723=)
c.62166C>A (p.Gly20722=)
c.61599C>A (p.Gly20533=)
c.58941C>A (p.Gly19647=)
c.58860C>A (p.Gly19620=)
c.40623C>A (p.Gly13541=)
c.30477C>A (p.Gly10159=)
2g.178579303C>ACA349423109TTN,TTN-AS1c.60023G>T (p.Gly20008Val)
c.41108G>T (p.Gly13703Val)
c.40907G>T (p.Gly13636Val)
c.40532G>T (p.Gly13511Val)
c.67727G>T (p.Gly22576Val)
c.62804G>T (p.Gly20935Val)
n.596+7854C>A
n.2044-3269C>A
c.66824G>T (p.Gly22275Val)
c.40718G>T (p.Gly13573Val)
c.40577G>T (p.Gly13526Val)
c.66620G>T (p.Gly22207Val)
c.62018G>T (p.Gly20673Val)
c.62015G>T (p.Gly20672Val)
c.59057G>T (p.Gly19686Val)
c.40673G>T (p.Gly13558Val)
c.62168G>T (p.Gly20723Val)
c.62165G>T (p.Gly20722Val)
c.61598G>T (p.Gly20533Val)
c.58940G>T (p.Gly19647Val)
c.58859G>T (p.Gly19620Val)
c.40622G>T (p.Gly13541Val)
c.30476G>T (p.Gly10159Val)
2g.178579303C>GCA349423110TTN,TTN-AS1c.60023G>C (p.Gly20008Ala)
c.41108G>C (p.Gly13703Ala)
c.40907G>C (p.Gly13636Ala)
c.40532G>C (p.Gly13511Ala)
c.67727G>C (p.Gly22576Ala)
c.62804G>C (p.Gly20935Ala)
n.596+7854C>G
n.2044-3269C>G
c.66824G>C (p.Gly22275Ala)
c.40718G>C (p.Gly13573Ala)
c.40577G>C (p.Gly13526Ala)
c.66620G>C (p.Gly22207Ala)
c.62018G>C (p.Gly20673Ala)
c.62015G>C (p.Gly20672Ala)
c.59057G>C (p.Gly19686Ala)
c.40673G>C (p.Gly13558Ala)
c.62168G>C (p.Gly20723Ala)
c.62165G>C (p.Gly20722Ala)
c.61598G>C (p.Gly20533Ala)
c.58940G>C (p.Gly19647Ala)
c.58859G>C (p.Gly19620Ala)
c.40622G>C (p.Gly13541Ala)
c.30476G>C (p.Gly10159Ala)
2g.178579303C>TCA349423111TTN,TTN-AS1c.60023G>A (p.Gly20008Asp)
c.41108G>A (p.Gly13703Asp)
c.40907G>A (p.Gly13636Asp)
c.40532G>A (p.Gly13511Asp)
c.67727G>A (p.Gly22576Asp)
c.62804G>A (p.Gly20935Asp)
n.596+7854C>T
n.2044-3269C>T
c.66824G>A (p.Gly22275Asp)
c.40718G>A (p.Gly13573Asp)
c.40577G>A (p.Gly13526Asp)
c.66620G>A (p.Gly22207Asp)
c.62018G>A (p.Gly20673Asp)
c.62015G>A (p.Gly20672Asp)
c.59057G>A (p.Gly19686Asp)
c.40673G>A (p.Gly13558Asp)
c.62168G>A (p.Gly20723Asp)
c.62165G>A (p.Gly20722Asp)
c.61598G>A (p.Gly20533Asp)
c.58940G>A (p.Gly19647Asp)
c.58859G>A (p.Gly19620Asp)
c.40622G>A (p.Gly13541Asp)
c.30476G>A (p.Gly10159Asp)
2g.178579304C>ACA349423113TTN,TTN-AS1c.60022G>T (p.Gly20008Cys)
c.41107G>T (p.Gly13703Cys)
c.40906G>T (p.Gly13636Cys)
c.40531G>T (p.Gly13511Cys)
c.67726G>T (p.Gly22576Cys)
c.62803G>T (p.Gly20935Cys)
n.596+7855C>A
n.2044-3268C>A
c.66823G>T (p.Gly22275Cys)
c.40717G>T (p.Gly13573Cys)
c.40576G>T (p.Gly13526Cys)
c.66619G>T (p.Gly22207Cys)
c.62017G>T (p.Gly20673Cys)
c.62014G>T (p.Gly20672Cys)
c.59056G>T (p.Gly19686Cys)
c.40672G>T (p.Gly13558Cys)
c.62167G>T (p.Gly20723Cys)
c.62164G>T (p.Gly20722Cys)
c.61597G>T (p.Gly20533Cys)
c.58939G>T (p.Gly19647Cys)
c.58858G>T (p.Gly19620Cys)
c.40621G>T (p.Gly13541Cys)
c.30475G>T (p.Gly10159Cys)
2g.178579304C=CA1310534340TTN,TTN-AS1c.60022G= (p.Gly20008=)
c.41107G= (p.Gly13703=)
c.40906G= (p.Gly13636=)
c.40531G= (p.Gly13511=)
c.67726G= (p.Gly22576=)
c.62803G= (p.Gly20935=)
n.596+7855C=
n.2044-3268C=
c.66823G= (p.Gly22275=)
c.40717G= (p.Gly13573=)
c.40576G= (p.Gly13526=)
c.66619G= (p.Gly22207=)
c.62017G= (p.Gly20673=)
c.62014G= (p.Gly20672=)
c.59056G= (p.Gly19686=)
c.40672G= (p.Gly13558=)
c.62167G= (p.Gly20723=)
c.62164G= (p.Gly20722=)
c.61597G= (p.Gly20533=)
c.58939G= (p.Gly19647=)
c.58858G= (p.Gly19620=)
c.40621G= (p.Gly13541=)
c.30475G= (p.Gly10159=)
2g.178579304C>GCA349423112TTN,TTN-AS1c.60022G>C (p.Gly20008Arg)
c.41107G>C (p.Gly13703Arg)
c.40906G>C (p.Gly13636Arg)
c.40531G>C (p.Gly13511Arg)
c.67726G>C (p.Gly22576Arg)
c.62803G>C (p.Gly20935Arg)
n.596+7855C>G
n.2044-3268C>G
c.66823G>C (p.Gly22275Arg)
c.40717G>C (p.Gly13573Arg)
c.40576G>C (p.Gly13526Arg)
c.66619G>C (p.Gly22207Arg)
c.62017G>C (p.Gly20673Arg)
c.62014G>C (p.Gly20672Arg)
c.59056G>C (p.Gly19686Arg)
c.40672G>C (p.Gly13558Arg)
c.62167G>C (p.Gly20723Arg)
c.62164G>C (p.Gly20722Arg)
c.61597G>C (p.Gly20533Arg)
c.58939G>C (p.Gly19647Arg)
c.58858G>C (p.Gly19620Arg)
c.40621G>C (p.Gly13541Arg)
c.30475G>C (p.Gly10159Arg)
2g.178579304C>TCA1991242TTN,TTN-AS1c.60022G>A (p.Gly20008Ser)
c.41107G>A (p.Gly13703Ser)
c.40906G>A (p.Gly13636Ser)
c.40531G>A (p.Gly13511Ser)
c.67726G>A (p.Gly22576Ser)
c.62803G>A (p.Gly20935Ser)
n.596+7855C>T
n.2044-3268C>T
c.66823G>A (p.Gly22275Ser)
c.40717G>A (p.Gly13573Ser)
c.40576G>A (p.Gly13526Ser)
c.66619G>A (p.Gly22207Ser)
c.62017G>A (p.Gly20673Ser)
c.62014G>A (p.Gly20672Ser)
c.59056G>A (p.Gly19686Ser)
c.40672G>A (p.Gly13558Ser)
c.62167G>A (p.Gly20723Ser)
c.62164G>A (p.Gly20722Ser)
c.61597G>A (p.Gly20533Ser)
c.58939G>A (p.Gly19647Ser)
c.58858G>A (p.Gly19620Ser)
c.40621G>A (p.Gly13541Ser)
c.30475G>A (p.Gly10159Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178579305T>ACA349423114TTN,TTN-AS1c.60021A>T (p.Lys20007Asn)
c.41106A>T (p.Lys13702Asn)
c.40905A>T (p.Lys13635Asn)
c.40530A>T (p.Lys13510Asn)
c.67725A>T (p.Lys22575Asn)
c.62802A>T (p.Lys20934Asn)
n.596+7856T>A
n.2044-3267T>A
c.66822A>T (p.Lys22274Asn)
c.40716A>T (p.Lys13572Asn)
c.40575A>T (p.Lys13525Asn)
c.66618A>T (p.Lys22206Asn)
c.62016A>T (p.Lys20672Asn)
c.62013A>T (p.Lys20671Asn)
c.59055A>T (p.Lys19685Asn)
c.40671A>T (p.Lys13557Asn)
c.62166A>T (p.Lys20722Asn)
c.62163A>T (p.Lys20721Asn)
c.61596A>T (p.Lys20532Asn)
c.58938A>T (p.Lys19646Asn)
c.58857A>T (p.Lys19619Asn)
c.40620A>T (p.Lys13540Asn)
c.30474A>T (p.Lys10158Asn)
2g.178579305T>CCA430260590TTN,TTN-AS1c.60021A>G (p.Lys20007=)
c.41106A>G (p.Lys13702=)
c.40905A>G (p.Lys13635=)
c.40530A>G (p.Lys13510=)
c.67725A>G (p.Lys22575=)
c.62802A>G (p.Lys20934=)
n.596+7856T>C
n.2044-3267T>C
c.66822A>G (p.Lys22274=)
c.40716A>G (p.Lys13572=)
c.40575A>G (p.Lys13525=)
c.66618A>G (p.Lys22206=)
c.62016A>G (p.Lys20672=)
c.62013A>G (p.Lys20671=)
c.59055A>G (p.Lys19685=)
c.40671A>G (p.Lys13557=)
c.62166A>G (p.Lys20722=)
c.62163A>G (p.Lys20721=)
c.61596A>G (p.Lys20532=)
c.58938A>G (p.Lys19646=)
c.58857A>G (p.Lys19619=)
c.40620A>G (p.Lys13540=)
c.30474A>G (p.Lys10158=)
 gnomAD v4
2g.178579305T>GCA349423115TTN,TTN-AS1c.60021A>C (p.Lys20007Asn)
c.41106A>C (p.Lys13702Asn)
c.40905A>C (p.Lys13635Asn)
c.40530A>C (p.Lys13510Asn)
c.67725A>C (p.Lys22575Asn)
c.62802A>C (p.Lys20934Asn)
n.596+7856T>G
n.2044-3267T>G
c.66822A>C (p.Lys22274Asn)
c.40716A>C (p.Lys13572Asn)
c.40575A>C (p.Lys13525Asn)
c.66618A>C (p.Lys22206Asn)
c.62016A>C (p.Lys20672Asn)
c.62013A>C (p.Lys20671Asn)
c.59055A>C (p.Lys19685Asn)
c.40671A>C (p.Lys13557Asn)
c.62166A>C (p.Lys20722Asn)
c.62163A>C (p.Lys20721Asn)
c.61596A>C (p.Lys20532Asn)
c.58938A>C (p.Lys19646Asn)
c.58857A>C (p.Lys19619Asn)
c.40620A>C (p.Lys13540Asn)
c.30474A>C (p.Lys10158Asn)
2g.178579306T>ACA349423116TTN,TTN-AS1c.60020A>T (p.Lys20007Ile)
c.41105A>T (p.Lys13702Ile)
c.40904A>T (p.Lys13635Ile)
c.40529A>T (p.Lys13510Ile)
c.67724A>T (p.Lys22575Ile)
c.62801A>T (p.Lys20934Ile)
n.596+7857T>A
n.2044-3266T>A
c.66821A>T (p.Lys22274Ile)
c.40715A>T (p.Lys13572Ile)
c.40574A>T (p.Lys13525Ile)
c.66617A>T (p.Lys22206Ile)
c.62015A>T (p.Lys20672Ile)
c.62012A>T (p.Lys20671Ile)
c.59054A>T (p.Lys19685Ile)
c.40670A>T (p.Lys13557Ile)
c.62165A>T (p.Lys20722Ile)
c.62162A>T (p.Lys20721Ile)
c.61595A>T (p.Lys20532Ile)
c.58937A>T (p.Lys19646Ile)
c.58856A>T (p.Lys19619Ile)
c.40619A>T (p.Lys13540Ile)
c.30473A>T (p.Lys10158Ile)
2g.178579306T>CCA349423117TTN,TTN-AS1c.60020A>G (p.Lys20007Arg)
c.41105A>G (p.Lys13702Arg)
c.40904A>G (p.Lys13635Arg)
c.40529A>G (p.Lys13510Arg)
c.67724A>G (p.Lys22575Arg)
c.62801A>G (p.Lys20934Arg)
n.596+7857T>C
n.2044-3266T>C
c.66821A>G (p.Lys22274Arg)
c.40715A>G (p.Lys13572Arg)
c.40574A>G (p.Lys13525Arg)
c.66617A>G (p.Lys22206Arg)
c.62015A>G (p.Lys20672Arg)
c.62012A>G (p.Lys20671Arg)
c.59054A>G (p.Lys19685Arg)
c.40670A>G (p.Lys13557Arg)
c.62165A>G (p.Lys20722Arg)
c.62162A>G (p.Lys20721Arg)
c.61595A>G (p.Lys20532Arg)
c.58937A>G (p.Lys19646Arg)
c.58856A>G (p.Lys19619Arg)
c.40619A>G (p.Lys13540Arg)
c.30473A>G (p.Lys10158Arg)
2g.178579306T>GCA349423118TTN,TTN-AS1c.60020A>C (p.Lys20007Thr)
c.41105A>C (p.Lys13702Thr)
c.40904A>C (p.Lys13635Thr)
c.40529A>C (p.Lys13510Thr)
c.67724A>C (p.Lys22575Thr)
c.62801A>C (p.Lys20934Thr)
n.596+7857T>G
n.2044-3266T>G
c.66821A>C (p.Lys22274Thr)
c.40715A>C (p.Lys13572Thr)
c.40574A>C (p.Lys13525Thr)
c.66617A>C (p.Lys22206Thr)
c.62015A>C (p.Lys20672Thr)
c.62012A>C (p.Lys20671Thr)
c.59054A>C (p.Lys19685Thr)
c.40670A>C (p.Lys13557Thr)
c.62165A>C (p.Lys20722Thr)
c.62162A>C (p.Lys20721Thr)
c.61595A>C (p.Lys20532Thr)
c.58937A>C (p.Lys19646Thr)
c.58856A>C (p.Lys19619Thr)
c.40619A>C (p.Lys13540Thr)
c.30473A>C (p.Lys10158Thr)
2g.178579307T>ACA349423119TTN,TTN-AS1c.60019A>T (p.Lys20007Ter)
c.41104A>T (p.Lys13702Ter)
c.40903A>T (p.Lys13635Ter)
c.40528A>T (p.Lys13510Ter)
c.67723A>T (p.Lys22575Ter)
c.62800A>T (p.Lys20934Ter)
n.596+7858T>A
n.2044-3265T>A
c.66820A>T (p.Lys22274Ter)
c.40714A>T (p.Lys13572Ter)
c.40573A>T (p.Lys13525Ter)
c.66616A>T (p.Lys22206Ter)
c.62014A>T (p.Lys20672Ter)
c.62011A>T (p.Lys20671Ter)
c.59053A>T (p.Lys19685Ter)
c.40669A>T (p.Lys13557Ter)
c.62164A>T (p.Lys20722Ter)
c.62161A>T (p.Lys20721Ter)
c.61594A>T (p.Lys20532Ter)
c.58936A>T (p.Lys19646Ter)
c.58855A>T (p.Lys19619Ter)
c.40618A>T (p.Lys13540Ter)
c.30472A>T (p.Lys10158Ter)
2g.178579307T>CCA349423121TTN,TTN-AS1c.60019A>G (p.Lys20007Glu)
c.41104A>G (p.Lys13702Glu)
c.40903A>G (p.Lys13635Glu)
c.40528A>G (p.Lys13510Glu)
c.67723A>G (p.Lys22575Glu)
c.62800A>G (p.Lys20934Glu)
n.596+7858T>C
n.2044-3265T>C
c.66820A>G (p.Lys22274Glu)
c.40714A>G (p.Lys13572Glu)
c.40573A>G (p.Lys13525Glu)
c.66616A>G (p.Lys22206Glu)
c.62014A>G (p.Lys20672Glu)
c.62011A>G (p.Lys20671Glu)
c.59053A>G (p.Lys19685Glu)
c.40669A>G (p.Lys13557Glu)
c.62164A>G (p.Lys20722Glu)
c.62161A>G (p.Lys20721Glu)
c.61594A>G (p.Lys20532Glu)
c.58936A>G (p.Lys19646Glu)
c.58855A>G (p.Lys19619Glu)
c.40618A>G (p.Lys13540Glu)
c.30472A>G (p.Lys10158Glu)
2g.178579307T>GCA349423120TTN,TTN-AS1c.60019A>C (p.Lys20007Gln)
c.41104A>C (p.Lys13702Gln)
c.40903A>C (p.Lys13635Gln)
c.40528A>C (p.Lys13510Gln)
c.67723A>C (p.Lys22575Gln)
c.62800A>C (p.Lys20934Gln)
n.596+7858T>G
n.2044-3265T>G
c.66820A>C (p.Lys22274Gln)
c.40714A>C (p.Lys13572Gln)
c.40573A>C (p.Lys13525Gln)
c.66616A>C (p.Lys22206Gln)
c.62014A>C (p.Lys20672Gln)
c.62011A>C (p.Lys20671Gln)
c.59053A>C (p.Lys19685Gln)
c.40669A>C (p.Lys13557Gln)
c.62164A>C (p.Lys20722Gln)
c.62161A>C (p.Lys20721Gln)
c.61594A>C (p.Lys20532Gln)
c.58936A>C (p.Lys19646Gln)
c.58855A>C (p.Lys19619Gln)
c.40618A>C (p.Lys13540Gln)
c.30472A>C (p.Lys10158Gln)
2g.178579308T>ACA430260609TTN,TTN-AS1c.60018A>T (p.Ile20006=)
c.41103A>T (p.Ile13701=)
c.40902A>T (p.Ile13634=)
c.40527A>T (p.Ile13509=)
c.67722A>T (p.Ile22574=)
c.62799A>T (p.Ile20933=)
n.596+7859T>A
n.2044-3264T>A
c.66819A>T (p.Ile22273=)
c.40713A>T (p.Ile13571=)
c.40572A>T (p.Ile13524=)
c.66615A>T (p.Ile22205=)
c.62013A>T (p.Ile20671=)
c.62010A>T (p.Ile20670=)
c.59052A>T (p.Ile19684=)
c.40668A>T (p.Ile13556=)
c.62163A>T (p.Ile20721=)
c.62160A>T (p.Ile20720=)
c.61593A>T (p.Ile20531=)
c.58935A>T (p.Ile19645=)
c.58854A>T (p.Ile19618=)
c.40617A>T (p.Ile13539=)
c.30471A>T (p.Ile10157=)
2g.178579308T>CCA349423122TTN,TTN-AS1c.60018A>G (p.Ile20006Met)
c.41103A>G (p.Ile13701Met)
c.40902A>G (p.Ile13634Met)
c.40527A>G (p.Ile13509Met)
c.67722A>G (p.Ile22574Met)
c.62799A>G (p.Ile20933Met)
n.596+7859T>C
n.2044-3264T>C
c.66819A>G (p.Ile22273Met)
c.40713A>G (p.Ile13571Met)
c.40572A>G (p.Ile13524Met)
c.66615A>G (p.Ile22205Met)
c.62013A>G (p.Ile20671Met)
c.62010A>G (p.Ile20670Met)
c.59052A>G (p.Ile19684Met)
c.40668A>G (p.Ile13556Met)
c.62163A>G (p.Ile20721Met)
c.62160A>G (p.Ile20720Met)
c.61593A>G (p.Ile20531Met)
c.58935A>G (p.Ile19645Met)
c.58854A>G (p.Ile19618Met)
c.40617A>G (p.Ile13539Met)
c.30471A>G (p.Ile10157Met)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178579308T>GCA430260613TTN,TTN-AS1c.60018A>C (p.Ile20006=)
c.41103A>C (p.Ile13701=)
c.40902A>C (p.Ile13634=)
c.40527A>C (p.Ile13509=)
c.67722A>C (p.Ile22574=)
c.62799A>C (p.Ile20933=)
n.596+7859T>G
n.2044-3264T>G
c.66819A>C (p.Ile22273=)
c.40713A>C (p.Ile13571=)
c.40572A>C (p.Ile13524=)
c.66615A>C (p.Ile22205=)
c.62013A>C (p.Ile20671=)
c.62010A>C (p.Ile20670=)
c.59052A>C (p.Ile19684=)
c.40668A>C (p.Ile13556=)
c.62163A>C (p.Ile20721=)
c.62160A>C (p.Ile20720=)
c.61593A>C (p.Ile20531=)
c.58935A>C (p.Ile19645=)
c.58854A>C (p.Ile19618=)
c.40617A>C (p.Ile13539=)
c.30471A>C (p.Ile10157=)
2g.178579309A>CCA349423123TTN,TTN-AS1c.60017T>G (p.Ile20006Arg)
c.41102T>G (p.Ile13701Arg)
c.40901T>G (p.Ile13634Arg)
c.40526T>G (p.Ile13509Arg)
c.67721T>G (p.Ile22574Arg)
c.62798T>G (p.Ile20933Arg)
n.596+7860A>C
n.2044-3263A>C
c.66818T>G (p.Ile22273Arg)
c.40712T>G (p.Ile13571Arg)
c.40571T>G (p.Ile13524Arg)
c.66614T>G (p.Ile22205Arg)
c.62012T>G (p.Ile20671Arg)
c.62009T>G (p.Ile20670Arg)
c.59051T>G (p.Ile19684Arg)
c.40667T>G (p.Ile13556Arg)
c.62162T>G (p.Ile20721Arg)
c.62159T>G (p.Ile20720Arg)
c.61592T>G (p.Ile20531Arg)
c.58934T>G (p.Ile19645Arg)
c.58853T>G (p.Ile19618Arg)
c.40616T>G (p.Ile13539Arg)
c.30470T>G (p.Ile10157Arg)
2g.178579309A>GCA349423124TTN,TTN-AS1c.60017T>C (p.Ile20006Thr)
c.41102T>C (p.Ile13701Thr)
c.40901T>C (p.Ile13634Thr)
c.40526T>C (p.Ile13509Thr)
c.67721T>C (p.Ile22574Thr)
c.62798T>C (p.Ile20933Thr)
n.596+7860A>G
n.2044-3263A>G
c.66818T>C (p.Ile22273Thr)
c.40712T>C (p.Ile13571Thr)
c.40571T>C (p.Ile13524Thr)
c.66614T>C (p.Ile22205Thr)
c.62012T>C (p.Ile20671Thr)
c.62009T>C (p.Ile20670Thr)
c.59051T>C (p.Ile19684Thr)
c.40667T>C (p.Ile13556Thr)
c.62162T>C (p.Ile20721Thr)
c.62159T>C (p.Ile20720Thr)
c.61592T>C (p.Ile20531Thr)
c.58934T>C (p.Ile19645Thr)
c.58853T>C (p.Ile19618Thr)
c.40616T>C (p.Ile13539Thr)
c.30470T>C (p.Ile10157Thr)
2g.178579309A>TCA349423125TTN,TTN-AS1c.60017T>A (p.Ile20006Lys)
c.41102T>A (p.Ile13701Lys)
c.40901T>A (p.Ile13634Lys)
c.40526T>A (p.Ile13509Lys)
c.67721T>A (p.Ile22574Lys)
c.62798T>A (p.Ile20933Lys)
n.596+7860A>T
n.2044-3263A>T
c.66818T>A (p.Ile22273Lys)
c.40712T>A (p.Ile13571Lys)
c.40571T>A (p.Ile13524Lys)
c.66614T>A (p.Ile22205Lys)
c.62012T>A (p.Ile20671Lys)
c.62009T>A (p.Ile20670Lys)
c.59051T>A (p.Ile19684Lys)
c.40667T>A (p.Ile13556Lys)
c.62162T>A (p.Ile20721Lys)
c.62159T>A (p.Ile20720Lys)
c.61592T>A (p.Ile20531Lys)
c.58934T>A (p.Ile19645Lys)
c.58853T>A (p.Ile19618Lys)
c.40616T>A (p.Ile13539Lys)
c.30470T>A (p.Ile10157Lys)
2g.178579310T>ACA349423126TTN,TTN-AS1c.60016A>T (p.Ile20006Leu)
c.41101A>T (p.Ile13701Leu)
c.40900A>T (p.Ile13634Leu)
c.40525A>T (p.Ile13509Leu)
c.67720A>T (p.Ile22574Leu)
c.62797A>T (p.Ile20933Leu)
n.596+7861T>A
n.2044-3262T>A
c.66817A>T (p.Ile22273Leu)
c.40711A>T (p.Ile13571Leu)
c.40570A>T (p.Ile13524Leu)
c.66613A>T (p.Ile22205Leu)
c.62011A>T (p.Ile20671Leu)
c.62008A>T (p.Ile20670Leu)
c.59050A>T (p.Ile19684Leu)
c.40666A>T (p.Ile13556Leu)
c.62161A>T (p.Ile20721Leu)
c.62158A>T (p.Ile20720Leu)
c.61591A>T (p.Ile20531Leu)
c.58933A>T (p.Ile19645Leu)
c.58852A>T (p.Ile19618Leu)
c.40615A>T (p.Ile13539Leu)
c.30469A>T (p.Ile10157Leu)
2g.178579310T>CCA1991243TTN,TTN-AS1c.60016A>G (p.Ile20006Val)
c.41101A>G (p.Ile13701Val)
c.40900A>G (p.Ile13634Val)
c.40525A>G (p.Ile13509Val)
c.67720A>G (p.Ile22574Val)
c.62797A>G (p.Ile20933Val)
n.596+7861T>C
n.2044-3262T>C
c.66817A>G (p.Ile22273Val)
c.40711A>G (p.Ile13571Val)
c.40570A>G (p.Ile13524Val)
c.66613A>G (p.Ile22205Val)
c.62011A>G (p.Ile20671Val)
c.62008A>G (p.Ile20670Val)
c.59050A>G (p.Ile19684Val)
c.40666A>G (p.Ile13556Val)
c.62161A>G (p.Ile20721Val)
c.62158A>G (p.Ile20720Val)
c.61591A>G (p.Ile20531Val)
c.58933A>G (p.Ile19645Val)
c.58852A>G (p.Ile19618Val)
c.40615A>G (p.Ile13539Val)
c.30469A>G (p.Ile10157Val)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched