Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178591978G>ACA178643TTN,TTN-AS1c.52222C>T (p.His17408Tyr)
c.33307C>T (p.His11103Tyr)
c.33106C>T (p.His11036Tyr)
c.32731C>T (p.His10911Tyr)
c.59926C>T (p.His19976Tyr)
c.55003C>T (p.His18335Tyr)
n.597-5618G>A
n.3364+664G>A
c.59023C>T (p.His19675Tyr)
c.32917C>T (p.His10973Tyr)
c.32776C>T (p.His10926Tyr)
c.58819C>T (p.His19607Tyr)
c.54217C>T (p.His18073Tyr)
c.54214C>T (p.His18072Tyr)
c.51256C>T (p.His17086Tyr)
c.32872C>T (p.His10958Tyr)
c.54367C>T (p.His18123Tyr)
c.54364C>T (p.His18122Tyr)
c.53797C>T (p.His17933Tyr)
c.51139C>T (p.His17047Tyr)
c.51058C>T (p.His17020Tyr)
c.32821C>T (p.His10941Tyr)
c.22675C>T (p.His7559Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178591978G>CCA349488667TTN,TTN-AS1c.52222C>G (p.His17408Asp)
c.33307C>G (p.His11103Asp)
c.33106C>G (p.His11036Asp)
c.32731C>G (p.His10911Asp)
c.59926C>G (p.His19976Asp)
c.55003C>G (p.His18335Asp)
n.597-5618G>C
n.3364+664G>C
c.59023C>G (p.His19675Asp)
c.32917C>G (p.His10973Asp)
c.32776C>G (p.His10926Asp)
c.58819C>G (p.His19607Asp)
c.54217C>G (p.His18073Asp)
c.54214C>G (p.His18072Asp)
c.51256C>G (p.His17086Asp)
c.32872C>G (p.His10958Asp)
c.54367C>G (p.His18123Asp)
c.54364C>G (p.His18122Asp)
c.53797C>G (p.His17933Asp)
c.51139C>G (p.His17047Asp)
c.51058C>G (p.His17020Asp)
c.32821C>G (p.His10941Asp)
c.22675C>G (p.His7559Asp)
2g.178591978G=CA1310540501TTN,TTN-AS1c.52222C= (p.His17408=)
c.33307C= (p.His11103=)
c.33106C= (p.His11036=)
c.32731C= (p.His10911=)
c.59926C= (p.His19976=)
c.55003C= (p.His18335=)
n.597-5618G=
n.3364+664G=
c.59023C= (p.His19675=)
c.32917C= (p.His10973=)
c.32776C= (p.His10926=)
c.58819C= (p.His19607=)
c.54217C= (p.His18073=)
c.54214C= (p.His18072=)
c.51256C= (p.His17086=)
c.32872C= (p.His10958=)
c.54367C= (p.His18123=)
c.54364C= (p.His18122=)
c.53797C= (p.His17933=)
c.51139C= (p.His17047=)
c.51058C= (p.His17020=)
c.32821C= (p.His10941=)
c.22675C= (p.His7559=)
2g.178591978G>TCA349488672TTN,TTN-AS1c.52222C>A (p.His17408Asn)
c.33307C>A (p.His11103Asn)
c.33106C>A (p.His11036Asn)
c.32731C>A (p.His10911Asn)
c.59926C>A (p.His19976Asn)
c.55003C>A (p.His18335Asn)
n.597-5618G>T
n.3364+664G>T
c.59023C>A (p.His19675Asn)
c.32917C>A (p.His10973Asn)
c.32776C>A (p.His10926Asn)
c.58819C>A (p.His19607Asn)
c.54217C>A (p.His18073Asn)
c.54214C>A (p.His18072Asn)
c.51256C>A (p.His17086Asn)
c.32872C>A (p.His10958Asn)
c.54367C>A (p.His18123Asn)
c.54364C>A (p.His18122Asn)
c.53797C>A (p.His17933Asn)
c.51139C>A (p.His17047Asn)
c.51058C>A (p.His17020Asn)
c.32821C>A (p.His10941Asn)
c.22675C>A (p.His7559Asn)
2g.178591979G>ACA430266991TTN,TTN-AS1c.52221C>T (p.Leu17407=)
c.33306C>T (p.Leu11102=)
c.33105C>T (p.Leu11035=)
c.32730C>T (p.Leu10910=)
c.59925C>T (p.Leu19975=)
c.55002C>T (p.Leu18334=)
n.597-5617G>A
n.3364+665G>A
c.59022C>T (p.Leu19674=)
c.32916C>T (p.Leu10972=)
c.32775C>T (p.Leu10925=)
c.58818C>T (p.Leu19606=)
c.54216C>T (p.Leu18072=)
c.54213C>T (p.Leu18071=)
c.51255C>T (p.Leu17085=)
c.32871C>T (p.Leu10957=)
c.54366C>T (p.Leu18122=)
c.54363C>T (p.Leu18121=)
c.53796C>T (p.Leu17932=)
c.51138C>T (p.Leu17046=)
c.51057C>T (p.Leu17019=)
c.32820C>T (p.Leu10940=)
c.22674C>T (p.Leu7558=)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178591979G>CCA430266990TTN,TTN-AS1c.52221C>G (p.Leu17407=)
c.33306C>G (p.Leu11102=)
c.33105C>G (p.Leu11035=)
c.32730C>G (p.Leu10910=)
c.59925C>G (p.Leu19975=)
c.55002C>G (p.Leu18334=)
n.597-5617G>C
n.3364+665G>C
c.59022C>G (p.Leu19674=)
c.32916C>G (p.Leu10972=)
c.32775C>G (p.Leu10925=)
c.58818C>G (p.Leu19606=)
c.54216C>G (p.Leu18072=)
c.54213C>G (p.Leu18071=)
c.51255C>G (p.Leu17085=)
c.32871C>G (p.Leu10957=)
c.54366C>G (p.Leu18122=)
c.54363C>G (p.Leu18121=)
c.53796C>G (p.Leu17932=)
c.51138C>G (p.Leu17046=)
c.51057C>G (p.Leu17019=)
c.32820C>G (p.Leu10940=)
c.22674C>G (p.Leu7558=)
2g.178591979G>TCA430266988TTN,TTN-AS1c.52221C>A (p.Leu17407=)
c.33306C>A (p.Leu11102=)
c.33105C>A (p.Leu11035=)
c.32730C>A (p.Leu10910=)
c.59925C>A (p.Leu19975=)
c.55002C>A (p.Leu18334=)
n.597-5617G>T
n.3364+665G>T
c.59022C>A (p.Leu19674=)
c.32916C>A (p.Leu10972=)
c.32775C>A (p.Leu10925=)
c.58818C>A (p.Leu19606=)
c.54216C>A (p.Leu18072=)
c.54213C>A (p.Leu18071=)
c.51255C>A (p.Leu17085=)
c.32871C>A (p.Leu10957=)
c.54366C>A (p.Leu18122=)
c.54363C>A (p.Leu18121=)
c.53796C>A (p.Leu17932=)
c.51138C>A (p.Leu17046=)
c.51057C>A (p.Leu17019=)
c.32820C>A (p.Leu10940=)
c.22674C>A (p.Leu7558=)
2g.178591979_178591998delinsGAGAGGATCCAAAGCCTTGACA1310540503TTN,TTN-AS1c.52202_52221delinsTCAAGGCTTTGGATCCTCTC (p.Ile17401=)
c.33287_33306delinsTCAAGGCTTTGGATCCTCTC (p.Ile11096=)
c.33086_33105delinsTCAAGGCTTTGGATCCTCTC (p.Ile11029=)
c.32711_32730delinsTCAAGGCTTTGGATCCTCTC (p.Ile10904=)
c.59906_59925delinsTCAAGGCTTTGGATCCTCTC (p.Ile19969=)
c.54983_55002delinsTCAAGGCTTTGGATCCTCTC (p.Ile18328=)
n.597-5617_597-5598delinsGAGAGGATCCAAAGCCTTGA
n.3364+665_3364+684delinsGAGAGGATCCAAAGCCTTGA
c.59003_59022delinsTCAAGGCTTTGGATCCTCTC (p.Ile19668=)
c.32897_32916delinsTCAAGGCTTTGGATCCTCTC (p.Ile10966=)
c.32756_32775delinsTCAAGGCTTTGGATCCTCTC (p.Ile10919=)
c.58799_58818delinsTCAAGGCTTTGGATCCTCTC (p.Ile19600=)
c.54197_54216delinsTCAAGGCTTTGGATCCTCTC (p.Ile18066=)
c.54194_54213delinsTCAAGGCTTTGGATCCTCTC (p.Ile18065=)
c.51236_51255delinsTCAAGGCTTTGGATCCTCTC (p.Ile17079=)
c.32852_32871delinsTCAAGGCTTTGGATCCTCTC (p.Ile10951=)
c.54347_54366delinsTCAAGGCTTTGGATCCTCTC (p.Ile18116=)
c.54344_54363delinsTCAAGGCTTTGGATCCTCTC (p.Ile18115=)
c.53777_53796delinsTCAAGGCTTTGGATCCTCTC (p.Ile17926=)
c.51119_51138delinsTCAAGGCTTTGGATCCTCTC (p.Ile17040=)
c.51038_51057delinsTCAAGGCTTTGGATCCTCTC (p.Ile17013=)
c.32801_32820delinsTCAAGGCTTTGGATCCTCTC (p.Ile10934=)
c.22655_22674delinsTCAAGGCTTTGGATCCTCTC (p.Ile7552=)
2g.178591980A>CCA349488678TTN,TTN-AS1c.52220T>G (p.Leu17407Arg)
c.33305T>G (p.Leu11102Arg)
c.33104T>G (p.Leu11035Arg)
c.32729T>G (p.Leu10910Arg)
c.59924T>G (p.Leu19975Arg)
c.55001T>G (p.Leu18334Arg)
n.597-5616A>C
n.3364+666A>C
c.59021T>G (p.Leu19674Arg)
c.32915T>G (p.Leu10972Arg)
c.32774T>G (p.Leu10925Arg)
c.58817T>G (p.Leu19606Arg)
c.54215T>G (p.Leu18072Arg)
c.54212T>G (p.Leu18071Arg)
c.51254T>G (p.Leu17085Arg)
c.32870T>G (p.Leu10957Arg)
c.54365T>G (p.Leu18122Arg)
c.54362T>G (p.Leu18121Arg)
c.53795T>G (p.Leu17932Arg)
c.51137T>G (p.Leu17046Arg)
c.51056T>G (p.Leu17019Arg)
c.32819T>G (p.Leu10940Arg)
c.22673T>G (p.Leu7558Arg)
2g.178591980A>GCA349488681TTN,TTN-AS1c.52220T>C (p.Leu17407Pro)
c.33305T>C (p.Leu11102Pro)
c.33104T>C (p.Leu11035Pro)
c.32729T>C (p.Leu10910Pro)
c.59924T>C (p.Leu19975Pro)
c.55001T>C (p.Leu18334Pro)
n.597-5616A>G
n.3364+666A>G
c.59021T>C (p.Leu19674Pro)
c.32915T>C (p.Leu10972Pro)
c.32774T>C (p.Leu10925Pro)
c.58817T>C (p.Leu19606Pro)
c.54215T>C (p.Leu18072Pro)
c.54212T>C (p.Leu18071Pro)
c.51254T>C (p.Leu17085Pro)
c.32870T>C (p.Leu10957Pro)
c.54365T>C (p.Leu18122Pro)
c.54362T>C (p.Leu18121Pro)
c.53795T>C (p.Leu17932Pro)
c.51137T>C (p.Leu17046Pro)
c.51056T>C (p.Leu17019Pro)
c.32819T>C (p.Leu10940Pro)
c.22673T>C (p.Leu7558Pro)
2g.178591980A>TCA349488677TTN,TTN-AS1c.52220T>A (p.Leu17407His)
c.33305T>A (p.Leu11102His)
c.33104T>A (p.Leu11035His)
c.32729T>A (p.Leu10910His)
c.59924T>A (p.Leu19975His)
c.55001T>A (p.Leu18334His)
n.597-5616A>T
n.3364+666A>T
c.59021T>A (p.Leu19674His)
c.32915T>A (p.Leu10972His)
c.32774T>A (p.Leu10925His)
c.58817T>A (p.Leu19606His)
c.54215T>A (p.Leu18072His)
c.54212T>A (p.Leu18071His)
c.51254T>A (p.Leu17085His)
c.32870T>A (p.Leu10957His)
c.54365T>A (p.Leu18122His)
c.54362T>A (p.Leu18121His)
c.53795T>A (p.Leu17932His)
c.51137T>A (p.Leu17046His)
c.51056T>A (p.Leu17019His)
c.32819T>A (p.Leu10940His)
c.22673T>A (p.Leu7558His)
2g.178591980_178591998delinsTTCA1139655657TTN,TTN-AS1c.52202_52220delinsAA (p.Ile17401LysfsTer16)
c.33287_33305delinsAA (p.Ile11096LysfsTer16)
c.33086_33104delinsAA (p.Ile11029LysfsTer16)
c.32711_32729delinsAA (p.Ile10904LysfsTer16)
c.59906_59924delinsAA (p.Ile19969LysfsTer16)
c.54983_55001delinsAA (p.Ile18328LysfsTer16)
n.597-5616_597-5598delinsTT
n.3364+666_3364+684delinsTT
c.59003_59021delinsAA (p.Ile19668LysfsTer16)
c.32897_32915delinsAA (p.Ile10966LysfsTer16)
c.32756_32774delinsAA (p.Ile10919LysfsTer16)
c.58799_58817delinsAA (p.Ile19600LysfsTer16)
c.54197_54215delinsAA (p.Ile18066LysfsTer16)
c.54194_54212delinsAA (p.Ile18065LysfsTer16)
c.51236_51254delinsAA (p.Ile17079LysfsTer16)
c.32852_32870delinsAA (p.Ile10951LysfsTer16)
c.54347_54365delinsAA (p.Ile18116LysfsTer16)
c.54344_54362delinsAA (p.Ile18115LysfsTer16)
c.53777_53795delinsAA (p.Ile17926LysfsTer16)
c.51119_51137delinsAA (p.Ile17040LysfsTer16)
c.51038_51056delinsAA (p.Ile17013LysfsTer16)
c.32801_32819delinsAA (p.Ile10934LysfsTer16)
c.22655_22673delinsAA (p.Ile7552LysfsTer16)
 ClinVar dbSNP
2g.178591981G>ACA349488683TTN,TTN-AS1c.52219C>T (p.Leu17407Phe)
c.33304C>T (p.Leu11102Phe)
c.33103C>T (p.Leu11035Phe)
c.32728C>T (p.Leu10910Phe)
c.59923C>T (p.Leu19975Phe)
c.55000C>T (p.Leu18334Phe)
n.597-5615G>A
n.3364+667G>A
c.59020C>T (p.Leu19674Phe)
c.32914C>T (p.Leu10972Phe)
c.32773C>T (p.Leu10925Phe)
c.58816C>T (p.Leu19606Phe)
c.54214C>T (p.Leu18072Phe)
c.54211C>T (p.Leu18071Phe)
c.51253C>T (p.Leu17085Phe)
c.32869C>T (p.Leu10957Phe)
c.54364C>T (p.Leu18122Phe)
c.54361C>T (p.Leu18121Phe)
c.53794C>T (p.Leu17932Phe)
c.51136C>T (p.Leu17046Phe)
c.51055C>T (p.Leu17019Phe)
c.32818C>T (p.Leu10940Phe)
c.22672C>T (p.Leu7558Phe)
 COSMIC COSMIC COSMIC COSMIC
2g.178591981G>CCA349488684TTN,TTN-AS1c.52219C>G (p.Leu17407Val)
c.33304C>G (p.Leu11102Val)
c.33103C>G (p.Leu11035Val)
c.32728C>G (p.Leu10910Val)
c.59923C>G (p.Leu19975Val)
c.55000C>G (p.Leu18334Val)
n.597-5615G>C
n.3364+667G>C
c.59020C>G (p.Leu19674Val)
c.32914C>G (p.Leu10972Val)
c.32773C>G (p.Leu10925Val)
c.58816C>G (p.Leu19606Val)
c.54214C>G (p.Leu18072Val)
c.54211C>G (p.Leu18071Val)
c.51253C>G (p.Leu17085Val)
c.32869C>G (p.Leu10957Val)
c.54364C>G (p.Leu18122Val)
c.54361C>G (p.Leu18121Val)
c.53794C>G (p.Leu17932Val)
c.51136C>G (p.Leu17046Val)
c.51055C>G (p.Leu17019Val)
c.32818C>G (p.Leu10940Val)
c.22672C>G (p.Leu7558Val)
2g.178591981G>TCA349488685TTN,TTN-AS1c.52219C>A (p.Leu17407Ile)
c.33304C>A (p.Leu11102Ile)
c.33103C>A (p.Leu11035Ile)
c.32728C>A (p.Leu10910Ile)
c.59923C>A (p.Leu19975Ile)
c.55000C>A (p.Leu18334Ile)
n.597-5615G>T
n.3364+667G>T
c.59020C>A (p.Leu19674Ile)
c.32914C>A (p.Leu10972Ile)
c.32773C>A (p.Leu10925Ile)
c.58816C>A (p.Leu19606Ile)
c.54214C>A (p.Leu18072Ile)
c.54211C>A (p.Leu18071Ile)
c.51253C>A (p.Leu17085Ile)
c.32869C>A (p.Leu10957Ile)
c.54364C>A (p.Leu18122Ile)
c.54361C>A (p.Leu18121Ile)
c.53794C>A (p.Leu17932Ile)
c.51136C>A (p.Leu17046Ile)
c.51055C>A (p.Leu17019Ile)
c.32818C>A (p.Leu10940Ile)
c.22672C>A (p.Leu7558Ile)
2g.178591982A>CCA430266996TTN,TTN-AS1c.52218T>G (p.Pro17406=)
c.33303T>G (p.Pro11101=)
c.33102T>G (p.Pro11034=)
c.32727T>G (p.Pro10909=)
c.59922T>G (p.Pro19974=)
c.54999T>G (p.Pro18333=)
n.597-5614A>C
n.3364+668A>C
c.59019T>G (p.Pro19673=)
c.32913T>G (p.Pro10971=)
c.32772T>G (p.Pro10924=)
c.58815T>G (p.Pro19605=)
c.54213T>G (p.Pro18071=)
c.54210T>G (p.Pro18070=)
c.51252T>G (p.Pro17084=)
c.32868T>G (p.Pro10956=)
c.54363T>G (p.Pro18121=)
c.54360T>G (p.Pro18120=)
c.53793T>G (p.Pro17931=)
c.51135T>G (p.Pro17045=)
c.51054T>G (p.Pro17018=)
c.32817T>G (p.Pro10939=)
c.22671T>G (p.Pro7557=)
2g.178591982A>GCA430266997TTN,TTN-AS1c.52218T>C (p.Pro17406=)
c.33303T>C (p.Pro11101=)
c.33102T>C (p.Pro11034=)
c.32727T>C (p.Pro10909=)
c.59922T>C (p.Pro19974=)
c.54999T>C (p.Pro18333=)
n.597-5614A>G
n.3364+668A>G
c.59019T>C (p.Pro19673=)
c.32913T>C (p.Pro10971=)
c.32772T>C (p.Pro10924=)
c.58815T>C (p.Pro19605=)
c.54213T>C (p.Pro18071=)
c.54210T>C (p.Pro18070=)
c.51252T>C (p.Pro17084=)
c.32868T>C (p.Pro10956=)
c.54363T>C (p.Pro18121=)
c.54360T>C (p.Pro18120=)
c.53793T>C (p.Pro17931=)
c.51135T>C (p.Pro17045=)
c.51054T>C (p.Pro17018=)
c.32817T>C (p.Pro10939=)
c.22671T>C (p.Pro7557=)
2g.178591982A>TCA430266998TTN,TTN-AS1c.52218T>A (p.Pro17406=)
c.33303T>A (p.Pro11101=)
c.33102T>A (p.Pro11034=)
c.32727T>A (p.Pro10909=)
c.59922T>A (p.Pro19974=)
c.54999T>A (p.Pro18333=)
n.597-5614A>T
n.3364+668A>T
c.59019T>A (p.Pro19673=)
c.32913T>A (p.Pro10971=)
c.32772T>A (p.Pro10924=)
c.58815T>A (p.Pro19605=)
c.54213T>A (p.Pro18071=)
c.54210T>A (p.Pro18070=)
c.51252T>A (p.Pro17084=)
c.32868T>A (p.Pro10956=)
c.54363T>A (p.Pro18121=)
c.54360T>A (p.Pro18120=)
c.53793T>A (p.Pro17931=)
c.51135T>A (p.Pro17045=)
c.51054T>A (p.Pro17018=)
c.32817T>A (p.Pro10939=)
c.22671T>A (p.Pro7557=)
2g.178591983G>ACA349488708TTN,TTN-AS1c.52217C>T (p.Pro17406Leu)
c.33302C>T (p.Pro11101Leu)
c.33101C>T (p.Pro11034Leu)
c.32726C>T (p.Pro10909Leu)
c.59921C>T (p.Pro19974Leu)
c.54998C>T (p.Pro18333Leu)
n.597-5613G>A
n.3364+669G>A
c.59018C>T (p.Pro19673Leu)
c.32912C>T (p.Pro10971Leu)
c.32771C>T (p.Pro10924Leu)
c.58814C>T (p.Pro19605Leu)
c.54212C>T (p.Pro18071Leu)
c.54209C>T (p.Pro18070Leu)
c.51251C>T (p.Pro17084Leu)
c.32867C>T (p.Pro10956Leu)
c.54362C>T (p.Pro18121Leu)
c.54359C>T (p.Pro18120Leu)
c.53792C>T (p.Pro17931Leu)
c.51134C>T (p.Pro17045Leu)
c.51053C>T (p.Pro17018Leu)
c.32816C>T (p.Pro10939Leu)
c.22670C>T (p.Pro7557Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.178591983G>CCA349488713TTN,TTN-AS1c.52217C>G (p.Pro17406Arg)
c.33302C>G (p.Pro11101Arg)
c.33101C>G (p.Pro11034Arg)
c.32726C>G (p.Pro10909Arg)
c.59921C>G (p.Pro19974Arg)
c.54998C>G (p.Pro18333Arg)
n.597-5613G>C
n.3364+669G>C
c.59018C>G (p.Pro19673Arg)
c.32912C>G (p.Pro10971Arg)
c.32771C>G (p.Pro10924Arg)
c.58814C>G (p.Pro19605Arg)
c.54212C>G (p.Pro18071Arg)
c.54209C>G (p.Pro18070Arg)
c.51251C>G (p.Pro17084Arg)
c.32867C>G (p.Pro10956Arg)
c.54362C>G (p.Pro18121Arg)
c.54359C>G (p.Pro18120Arg)
c.53792C>G (p.Pro17931Arg)
c.51134C>G (p.Pro17045Arg)
c.51053C>G (p.Pro17018Arg)
c.32816C>G (p.Pro10939Arg)
c.22670C>G (p.Pro7557Arg)
2g.178591983G=CA1310540505TTN,TTN-AS1c.52217C= (p.Pro17406=)
c.33302C= (p.Pro11101=)
c.33101C= (p.Pro11034=)
c.32726C= (p.Pro10909=)
c.59921C= (p.Pro19974=)
c.54998C= (p.Pro18333=)
n.597-5613G=
n.3364+669G=
c.59018C= (p.Pro19673=)
c.32912C= (p.Pro10971=)
c.32771C= (p.Pro10924=)
c.58814C= (p.Pro19605=)
c.54212C= (p.Pro18071=)
c.54209C= (p.Pro18070=)
c.51251C= (p.Pro17084=)
c.32867C= (p.Pro10956=)
c.54362C= (p.Pro18121=)
c.54359C= (p.Pro18120=)
c.53792C= (p.Pro17931=)
c.51134C= (p.Pro17045=)
c.51053C= (p.Pro17018=)
c.32816C= (p.Pro10939=)
c.22670C= (p.Pro7557=)
2g.178591983G>TCA349488719TTN,TTN-AS1c.52217C>A (p.Pro17406His)
c.33302C>A (p.Pro11101His)
c.33101C>A (p.Pro11034His)
c.32726C>A (p.Pro10909His)
c.59921C>A (p.Pro19974His)
c.54998C>A (p.Pro18333His)
n.597-5613G>T
n.3364+669G>T
c.59018C>A (p.Pro19673His)
c.32912C>A (p.Pro10971His)
c.32771C>A (p.Pro10924His)
c.58814C>A (p.Pro19605His)
c.54212C>A (p.Pro18071His)
c.54209C>A (p.Pro18070His)
c.51251C>A (p.Pro17084His)
c.32867C>A (p.Pro10956His)
c.54362C>A (p.Pro18121His)
c.54359C>A (p.Pro18120His)
c.53792C>A (p.Pro17931His)
c.51134C>A (p.Pro17045His)
c.51053C>A (p.Pro17018His)
c.32816C>A (p.Pro10939His)
c.22670C>A (p.Pro7557His)
 dbSNP gnomAD v2
2g.178591984G>ACA349488726TTN,TTN-AS1c.52216C>T (p.Pro17406Ser)
c.33301C>T (p.Pro11101Ser)
c.33100C>T (p.Pro11034Ser)
c.32725C>T (p.Pro10909Ser)
c.59920C>T (p.Pro19974Ser)
c.54997C>T (p.Pro18333Ser)
n.597-5612G>A
n.3364+670G>A
c.59017C>T (p.Pro19673Ser)
c.32911C>T (p.Pro10971Ser)
c.32770C>T (p.Pro10924Ser)
c.58813C>T (p.Pro19605Ser)
c.54211C>T (p.Pro18071Ser)
c.54208C>T (p.Pro18070Ser)
c.51250C>T (p.Pro17084Ser)
c.32866C>T (p.Pro10956Ser)
c.54361C>T (p.Pro18121Ser)
c.54358C>T (p.Pro18120Ser)
c.53791C>T (p.Pro17931Ser)
c.51133C>T (p.Pro17045Ser)
c.51052C>T (p.Pro17018Ser)
c.32815C>T (p.Pro10939Ser)
c.22669C>T (p.Pro7557Ser)
2g.178591984G>CCA349488730TTN,TTN-AS1c.52216C>G (p.Pro17406Ala)
c.33301C>G (p.Pro11101Ala)
c.33100C>G (p.Pro11034Ala)
c.32725C>G (p.Pro10909Ala)
c.59920C>G (p.Pro19974Ala)
c.54997C>G (p.Pro18333Ala)
n.597-5612G>C
n.3364+670G>C
c.59017C>G (p.Pro19673Ala)
c.32911C>G (p.Pro10971Ala)
c.32770C>G (p.Pro10924Ala)
c.58813C>G (p.Pro19605Ala)
c.54211C>G (p.Pro18071Ala)
c.54208C>G (p.Pro18070Ala)
c.51250C>G (p.Pro17084Ala)
c.32866C>G (p.Pro10956Ala)
c.54361C>G (p.Pro18121Ala)
c.54358C>G (p.Pro18120Ala)
c.53791C>G (p.Pro17931Ala)
c.51133C>G (p.Pro17045Ala)
c.51052C>G (p.Pro17018Ala)
c.32815C>G (p.Pro10939Ala)
c.22669C>G (p.Pro7557Ala)
2g.178591984G=CA1310540507TTN,TTN-AS1c.52216C= (p.Pro17406=)
c.33301C= (p.Pro11101=)
c.33100C= (p.Pro11034=)
c.32725C= (p.Pro10909=)
c.59920C= (p.Pro19974=)
c.54997C= (p.Pro18333=)
n.597-5612G=
n.3364+670G=
c.59017C= (p.Pro19673=)
c.32911C= (p.Pro10971=)
c.32770C= (p.Pro10924=)
c.58813C= (p.Pro19605=)
c.54211C= (p.Pro18071=)
c.54208C= (p.Pro18070=)
c.51250C= (p.Pro17084=)
c.32866C= (p.Pro10956=)
c.54361C= (p.Pro18121=)
c.54358C= (p.Pro18120=)
c.53791C= (p.Pro17931=)
c.51133C= (p.Pro17045=)
c.51052C= (p.Pro17018=)
c.32815C= (p.Pro10939=)
c.22669C= (p.Pro7557=)
2g.178591984G>TCA1992582TTN,TTN-AS1c.52216C>A (p.Pro17406Thr)
c.33301C>A (p.Pro11101Thr)
c.33100C>A (p.Pro11034Thr)
c.32725C>A (p.Pro10909Thr)
c.59920C>A (p.Pro19974Thr)
c.54997C>A (p.Pro18333Thr)
n.597-5612G>T
n.3364+670G>T
c.59017C>A (p.Pro19673Thr)
c.32911C>A (p.Pro10971Thr)
c.32770C>A (p.Pro10924Thr)
c.58813C>A (p.Pro19605Thr)
c.54211C>A (p.Pro18071Thr)
c.54208C>A (p.Pro18070Thr)
c.51250C>A (p.Pro17084Thr)
c.32866C>A (p.Pro10956Thr)
c.54361C>A (p.Pro18121Thr)
c.54358C>A (p.Pro18120Thr)
c.53791C>A (p.Pro17931Thr)
c.51133C>A (p.Pro17045Thr)
c.51052C>A (p.Pro17018Thr)
c.32815C>A (p.Pro10939Thr)
c.22669C>A (p.Pro7557Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178591985A>CCA349488737TTN,TTN-AS1c.52215T>G (p.Asp17405Glu)
c.33300T>G (p.Asp11100Glu)
c.33099T>G (p.Asp11033Glu)
c.32724T>G (p.Asp10908Glu)
c.59919T>G (p.Asp19973Glu)
c.54996T>G (p.Asp18332Glu)
n.597-5611A>C
n.3364+671A>C
c.59016T>G (p.Asp19672Glu)
c.32910T>G (p.Asp10970Glu)
c.32769T>G (p.Asp10923Glu)
c.58812T>G (p.Asp19604Glu)
c.54210T>G (p.Asp18070Glu)
c.54207T>G (p.Asp18069Glu)
c.51249T>G (p.Asp17083Glu)
c.32865T>G (p.Asp10955Glu)
c.54360T>G (p.Asp18120Glu)
c.54357T>G (p.Asp18119Glu)
c.53790T>G (p.Asp17930Glu)
c.51132T>G (p.Asp17044Glu)
c.51051T>G (p.Asp17017Glu)
c.32814T>G (p.Asp10938Glu)
c.22668T>G (p.Asp7556Glu)
2g.178591985A>GCA430267003TTN,TTN-AS1c.52215T>C (p.Asp17405=)
c.33300T>C (p.Asp11100=)
c.33099T>C (p.Asp11033=)
c.32724T>C (p.Asp10908=)
c.59919T>C (p.Asp19973=)
c.54996T>C (p.Asp18332=)
n.597-5611A>G
n.3364+671A>G
c.59016T>C (p.Asp19672=)
c.32910T>C (p.Asp10970=)
c.32769T>C (p.Asp10923=)
c.58812T>C (p.Asp19604=)
c.54210T>C (p.Asp18070=)
c.54207T>C (p.Asp18069=)
c.51249T>C (p.Asp17083=)
c.32865T>C (p.Asp10955=)
c.54360T>C (p.Asp18120=)
c.54357T>C (p.Asp18119=)
c.53790T>C (p.Asp17930=)
c.51132T>C (p.Asp17044=)
c.51051T>C (p.Asp17017=)
c.32814T>C (p.Asp10938=)
c.22668T>C (p.Asp7556=)
2g.178591985A>TCA349488740TTN,TTN-AS1c.52215T>A (p.Asp17405Glu)
c.33300T>A (p.Asp11100Glu)
c.33099T>A (p.Asp11033Glu)
c.32724T>A (p.Asp10908Glu)
c.59919T>A (p.Asp19973Glu)
c.54996T>A (p.Asp18332Glu)
n.597-5611A>T
n.3364+671A>T
c.59016T>A (p.Asp19672Glu)
c.32910T>A (p.Asp10970Glu)
c.32769T>A (p.Asp10923Glu)
c.58812T>A (p.Asp19604Glu)
c.54210T>A (p.Asp18070Glu)
c.54207T>A (p.Asp18069Glu)
c.51249T>A (p.Asp17083Glu)
c.32865T>A (p.Asp10955Glu)
c.54360T>A (p.Asp18120Glu)
c.54357T>A (p.Asp18119Glu)
c.53790T>A (p.Asp17930Glu)
c.51132T>A (p.Asp17044Glu)
c.51051T>A (p.Asp17017Glu)
c.32814T>A (p.Asp10938Glu)
c.22668T>A (p.Asp7556Glu)
2g.178591986T>ACA349488750TTN,TTN-AS1c.52214A>T (p.Asp17405Val)
c.33299A>T (p.Asp11100Val)
c.33098A>T (p.Asp11033Val)
c.32723A>T (p.Asp10908Val)
c.59918A>T (p.Asp19973Val)
c.54995A>T (p.Asp18332Val)
n.597-5610T>A
n.3364+672T>A
c.59015A>T (p.Asp19672Val)
c.32909A>T (p.Asp10970Val)
c.32768A>T (p.Asp10923Val)
c.58811A>T (p.Asp19604Val)
c.54209A>T (p.Asp18070Val)
c.54206A>T (p.Asp18069Val)
c.51248A>T (p.Asp17083Val)
c.32864A>T (p.Asp10955Val)
c.54359A>T (p.Asp18120Val)
c.54356A>T (p.Asp18119Val)
c.53789A>T (p.Asp17930Val)
c.51131A>T (p.Asp17044Val)
c.51050A>T (p.Asp17017Val)
c.32813A>T (p.Asp10938Val)
c.22667A>T (p.Asp7556Val)
2g.178591986T>CCA349488751TTN,TTN-AS1c.52214A>G (p.Asp17405Gly)
c.33299A>G (p.Asp11100Gly)
c.33098A>G (p.Asp11033Gly)
c.32723A>G (p.Asp10908Gly)
c.59918A>G (p.Asp19973Gly)
c.54995A>G (p.Asp18332Gly)
n.597-5610T>C
n.3364+672T>C
c.59015A>G (p.Asp19672Gly)
c.32909A>G (p.Asp10970Gly)
c.32768A>G (p.Asp10923Gly)
c.58811A>G (p.Asp19604Gly)
c.54209A>G (p.Asp18070Gly)
c.54206A>G (p.Asp18069Gly)
c.51248A>G (p.Asp17083Gly)
c.32864A>G (p.Asp10955Gly)
c.54359A>G (p.Asp18120Gly)
c.54356A>G (p.Asp18119Gly)
c.53789A>G (p.Asp17930Gly)
c.51131A>G (p.Asp17044Gly)
c.51050A>G (p.Asp17017Gly)
c.32813A>G (p.Asp10938Gly)
c.22667A>G (p.Asp7556Gly)
2g.178591986T>GCA349488752TTN,TTN-AS1c.52214A>C (p.Asp17405Ala)
c.33299A>C (p.Asp11100Ala)
c.33098A>C (p.Asp11033Ala)
c.32723A>C (p.Asp10908Ala)
c.59918A>C (p.Asp19973Ala)
c.54995A>C (p.Asp18332Ala)
n.597-5610T>G
n.3364+672T>G
c.59015A>C (p.Asp19672Ala)
c.32909A>C (p.Asp10970Ala)
c.32768A>C (p.Asp10923Ala)
c.58811A>C (p.Asp19604Ala)
c.54209A>C (p.Asp18070Ala)
c.54206A>C (p.Asp18069Ala)
c.51248A>C (p.Asp17083Ala)
c.32864A>C (p.Asp10955Ala)
c.54359A>C (p.Asp18120Ala)
c.54356A>C (p.Asp18119Ala)
c.53789A>C (p.Asp17930Ala)
c.51131A>C (p.Asp17044Ala)
c.51050A>C (p.Asp17017Ala)
c.32813A>C (p.Asp10938Ala)
c.22667A>C (p.Asp7556Ala)
2g.178591986_178591987delinsTCCA1310540509TTN,TTN-AS1c.52213_52214delinsGA (p.Asp17405=)
c.33298_33299delinsGA (p.Asp11100=)
c.33097_33098delinsGA (p.Asp11033=)
c.32722_32723delinsGA (p.Asp10908=)
c.59917_59918delinsGA (p.Asp19973=)
c.54994_54995delinsGA (p.Asp18332=)
n.597-5610_597-5609delinsTC
n.3364+672_3364+673delinsTC
c.59014_59015delinsGA (p.Asp19672=)
c.32908_32909delinsGA (p.Asp10970=)
c.32767_32768delinsGA (p.Asp10923=)
c.58810_58811delinsGA (p.Asp19604=)
c.54208_54209delinsGA (p.Asp18070=)
c.54205_54206delinsGA (p.Asp18069=)
c.51247_51248delinsGA (p.Asp17083=)
c.32863_32864delinsGA (p.Asp10955=)
c.54358_54359delinsGA (p.Asp18120=)
c.54355_54356delinsGA (p.Asp18119=)
c.53788_53789delinsGA (p.Asp17930=)
c.51130_51131delinsGA (p.Asp17044=)
c.51049_51050delinsGA (p.Asp17017=)
c.32812_32813delinsGA (p.Asp10938=)
c.22666_22667delinsGA (p.Asp7556=)
2g.178591987C>ACA349488756TTN,TTN-AS1c.52213G>T (p.Asp17405Tyr)
c.33298G>T (p.Asp11100Tyr)
c.33097G>T (p.Asp11033Tyr)
c.32722G>T (p.Asp10908Tyr)
c.59917G>T (p.Asp19973Tyr)
c.54994G>T (p.Asp18332Tyr)
n.597-5609C>A
n.3364+673C>A
c.59014G>T (p.Asp19672Tyr)
c.32908G>T (p.Asp10970Tyr)
c.32767G>T (p.Asp10923Tyr)
c.58810G>T (p.Asp19604Tyr)
c.54208G>T (p.Asp18070Tyr)
c.54205G>T (p.Asp18069Tyr)
c.51247G>T (p.Asp17083Tyr)
c.32863G>T (p.Asp10955Tyr)
c.54358G>T (p.Asp18120Tyr)
c.54355G>T (p.Asp18119Tyr)
c.53788G>T (p.Asp17930Tyr)
c.51130G>T (p.Asp17044Tyr)
c.51049G>T (p.Asp17017Tyr)
c.32812G>T (p.Asp10938Tyr)
c.22666G>T (p.Asp7556Tyr)
2g.178591987C=CA1310540512TTN,TTN-AS1c.52213G= (p.Asp17405=)
c.33298G= (p.Asp11100=)
c.33097G= (p.Asp11033=)
c.32722G= (p.Asp10908=)
c.59917G= (p.Asp19973=)
c.54994G= (p.Asp18332=)
n.597-5609C=
n.3364+673C=
c.59014G= (p.Asp19672=)
c.32908G= (p.Asp10970=)
c.32767G= (p.Asp10923=)
c.58810G= (p.Asp19604=)
c.54208G= (p.Asp18070=)
c.54205G= (p.Asp18069=)
c.51247G= (p.Asp17083=)
c.32863G= (p.Asp10955=)
c.54358G= (p.Asp18120=)
c.54355G= (p.Asp18119=)
c.53788G= (p.Asp17930=)
c.51130G= (p.Asp17044=)
c.51049G= (p.Asp17017=)
c.32812G= (p.Asp10938=)
c.22666G= (p.Asp7556=)
2g.178591987C>GCA349488757TTN,TTN-AS1c.52213G>C (p.Asp17405His)
c.33298G>C (p.Asp11100His)
c.33097G>C (p.Asp11033His)
c.32722G>C (p.Asp10908His)
c.59917G>C (p.Asp19973His)
c.54994G>C (p.Asp18332His)
n.597-5609C>G
n.3364+673C>G
c.59014G>C (p.Asp19672His)
c.32908G>C (p.Asp10970His)
c.32767G>C (p.Asp10923His)
c.58810G>C (p.Asp19604His)
c.54208G>C (p.Asp18070His)
c.54205G>C (p.Asp18069His)
c.51247G>C (p.Asp17083His)
c.32863G>C (p.Asp10955His)
c.54358G>C (p.Asp18120His)
c.54355G>C (p.Asp18119His)
c.53788G>C (p.Asp17930His)
c.51130G>C (p.Asp17044His)
c.51049G>C (p.Asp17017His)
c.32812G>C (p.Asp10938His)
c.22666G>C (p.Asp7556His)
2g.178591987C>TCA1992583TTN,TTN-AS1c.52213G>A (p.Asp17405Asn)
c.33298G>A (p.Asp11100Asn)
c.33097G>A (p.Asp11033Asn)
c.32722G>A (p.Asp10908Asn)
c.59917G>A (p.Asp19973Asn)
c.54994G>A (p.Asp18332Asn)
n.597-5609C>T
n.3364+673C>T
c.59014G>A (p.Asp19672Asn)
c.32908G>A (p.Asp10970Asn)
c.32767G>A (p.Asp10923Asn)
c.58810G>A (p.Asp19604Asn)
c.54208G>A (p.Asp18070Asn)
c.54205G>A (p.Asp18069Asn)
c.51247G>A (p.Asp17083Asn)
c.32863G>A (p.Asp10955Asn)
c.54358G>A (p.Asp18120Asn)
c.54355G>A (p.Asp18119Asn)
c.53788G>A (p.Asp17930Asn)
c.51130G>A (p.Asp17044Asn)
c.51049G>A (p.Asp17017Asn)
c.32812G>A (p.Asp10938Asn)
c.22666G>A (p.Asp7556Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178591988delCA1139655658TTN,TTN-AS1c.52213del (p.Asp17405IlefsTer15)
c.33298del (p.Asp11100IlefsTer15)
c.33097del (p.Asp11033IlefsTer15)
c.32722del (p.Asp10908IlefsTer15)
c.59917del (p.Asp19973IlefsTer15)
c.54994del (p.Asp18332IlefsTer15)
n.597-5608del
n.3364+674del
c.59014del (p.Asp19672IlefsTer15)
c.32908del (p.Asp10970IlefsTer15)
c.32767del (p.Asp10923IlefsTer15)
c.58810del (p.Asp19604IlefsTer15)
c.54208del (p.Asp18070IlefsTer15)
c.54205del (p.Asp18069IlefsTer15)
c.51247del (p.Asp17083IlefsTer15)
c.32863del (p.Asp10955IlefsTer15)
c.54358del (p.Asp18120IlefsTer15)
c.54355del (p.Asp18119IlefsTer15)
c.53788del (p.Asp17930IlefsTer15)
c.51130del (p.Asp17044IlefsTer15)
c.51049del (p.Asp17017IlefsTer15)
c.32812del (p.Asp10938IlefsTer15)
c.22666del (p.Asp7556IlefsTer15)
 ClinVar dbSNP
2g.178591988C>ACA349488759TTN,TTN-AS1c.52212G>T (p.Leu17404Phe)
c.33297G>T (p.Leu11099Phe)
c.33096G>T (p.Leu11032Phe)
c.32721G>T (p.Leu10907Phe)
c.59916G>T (p.Leu19972Phe)
c.54993G>T (p.Leu18331Phe)
n.597-5608C>A
n.3364+674C>A
c.59013G>T (p.Leu19671Phe)
c.32907G>T (p.Leu10969Phe)
c.32766G>T (p.Leu10922Phe)
c.58809G>T (p.Leu19603Phe)
c.54207G>T (p.Leu18069Phe)
c.54204G>T (p.Leu18068Phe)
c.51246G>T (p.Leu17082Phe)
c.32862G>T (p.Leu10954Phe)
c.54357G>T (p.Leu18119Phe)
c.54354G>T (p.Leu18118Phe)
c.53787G>T (p.Leu17929Phe)
c.51129G>T (p.Leu17043Phe)
c.51048G>T (p.Leu17016Phe)
c.32811G>T (p.Leu10937Phe)
c.22665G>T (p.Leu7555Phe)
2g.178591988C=CA1310540515TTN,TTN-AS1c.52212G= (p.Leu17404=)
c.33297G= (p.Leu11099=)
c.33096G= (p.Leu11032=)
c.32721G= (p.Leu10907=)
c.59916G= (p.Leu19972=)
c.54993G= (p.Leu18331=)
n.597-5608C=
n.3364+674C=
c.59013G= (p.Leu19671=)
c.32907G= (p.Leu10969=)
c.32766G= (p.Leu10922=)
c.58809G= (p.Leu19603=)
c.54207G= (p.Leu18069=)
c.54204G= (p.Leu18068=)
c.51246G= (p.Leu17082=)
c.32862G= (p.Leu10954=)
c.54357G= (p.Leu18119=)
c.54354G= (p.Leu18118=)
c.53787G= (p.Leu17929=)
c.51129G= (p.Leu17043=)
c.51048G= (p.Leu17016=)
c.32811G= (p.Leu10937=)
c.22665G= (p.Leu7555=)
2g.178591988C>GCA349488763TTN,TTN-AS1c.52212G>C (p.Leu17404Phe)
c.33297G>C (p.Leu11099Phe)
c.33096G>C (p.Leu11032Phe)
c.32721G>C (p.Leu10907Phe)
c.59916G>C (p.Leu19972Phe)
c.54993G>C (p.Leu18331Phe)
n.597-5608C>G
n.3364+674C>G
c.59013G>C (p.Leu19671Phe)
c.32907G>C (p.Leu10969Phe)
c.32766G>C (p.Leu10922Phe)
c.58809G>C (p.Leu19603Phe)
c.54207G>C (p.Leu18069Phe)
c.54204G>C (p.Leu18068Phe)
c.51246G>C (p.Leu17082Phe)
c.32862G>C (p.Leu10954Phe)
c.54357G>C (p.Leu18119Phe)
c.54354G>C (p.Leu18118Phe)
c.53787G>C (p.Leu17929Phe)
c.51129G>C (p.Leu17043Phe)
c.51048G>C (p.Leu17016Phe)
c.32811G>C (p.Leu10937Phe)
c.22665G>C (p.Leu7555Phe)
 ClinVar dbSNP gnomAD v4
2g.178591988C>TCA430267007TTN,TTN-AS1c.52212G>A (p.Leu17404=)
c.33297G>A (p.Leu11099=)
c.33096G>A (p.Leu11032=)
c.32721G>A (p.Leu10907=)
c.59916G>A (p.Leu19972=)
c.54993G>A (p.Leu18331=)
n.597-5608C>T
n.3364+674C>T
c.59013G>A (p.Leu19671=)
c.32907G>A (p.Leu10969=)
c.32766G>A (p.Leu10922=)
c.58809G>A (p.Leu19603=)
c.54207G>A (p.Leu18069=)
c.54204G>A (p.Leu18068=)
c.51246G>A (p.Leu17082=)
c.32862G>A (p.Leu10954=)
c.54357G>A (p.Leu18119=)
c.54354G>A (p.Leu18118=)
c.53787G>A (p.Leu17929=)
c.51129G>A (p.Leu17043=)
c.51048G>A (p.Leu17016=)
c.32811G>A (p.Leu10937=)
c.22665G>A (p.Leu7555=)
 gnomAD v4
2g.178591989A>CCA349488767TTN,TTN-AS1c.52211T>G (p.Leu17404Trp)
c.33296T>G (p.Leu11099Trp)
c.33095T>G (p.Leu11032Trp)
c.32720T>G (p.Leu10907Trp)
c.59915T>G (p.Leu19972Trp)
c.54992T>G (p.Leu18331Trp)
n.597-5607A>C
n.3364+675A>C
c.59012T>G (p.Leu19671Trp)
c.32906T>G (p.Leu10969Trp)
c.32765T>G (p.Leu10922Trp)
c.58808T>G (p.Leu19603Trp)
c.54206T>G (p.Leu18069Trp)
c.54203T>G (p.Leu18068Trp)
c.51245T>G (p.Leu17082Trp)
c.32861T>G (p.Leu10954Trp)
c.54356T>G (p.Leu18119Trp)
c.54353T>G (p.Leu18118Trp)
c.53786T>G (p.Leu17929Trp)
c.51128T>G (p.Leu17043Trp)
c.51047T>G (p.Leu17016Trp)
c.32810T>G (p.Leu10937Trp)
c.22664T>G (p.Leu7555Trp)
2g.178591989A>GCA349488770TTN,TTN-AS1c.52211T>C (p.Leu17404Ser)
c.33296T>C (p.Leu11099Ser)
c.33095T>C (p.Leu11032Ser)
c.32720T>C (p.Leu10907Ser)
c.59915T>C (p.Leu19972Ser)
c.54992T>C (p.Leu18331Ser)
n.597-5607A>G
n.3364+675A>G
c.59012T>C (p.Leu19671Ser)
c.32906T>C (p.Leu10969Ser)
c.32765T>C (p.Leu10922Ser)
c.58808T>C (p.Leu19603Ser)
c.54206T>C (p.Leu18069Ser)
c.54203T>C (p.Leu18068Ser)
c.51245T>C (p.Leu17082Ser)
c.32861T>C (p.Leu10954Ser)
c.54356T>C (p.Leu18119Ser)
c.54353T>C (p.Leu18118Ser)
c.53786T>C (p.Leu17929Ser)
c.51128T>C (p.Leu17043Ser)
c.51047T>C (p.Leu17016Ser)
c.32810T>C (p.Leu10937Ser)
c.22664T>C (p.Leu7555Ser)
2g.178591989A>TCA349488771TTN,TTN-AS1c.52211T>A (p.Leu17404Ter)
c.33296T>A (p.Leu11099Ter)
c.33095T>A (p.Leu11032Ter)
c.32720T>A (p.Leu10907Ter)
c.59915T>A (p.Leu19972Ter)
c.54992T>A (p.Leu18331Ter)
n.597-5607A>T
n.3364+675A>T
c.59012T>A (p.Leu19671Ter)
c.32906T>A (p.Leu10969Ter)
c.32765T>A (p.Leu10922Ter)
c.58808T>A (p.Leu19603Ter)
c.54206T>A (p.Leu18069Ter)
c.54203T>A (p.Leu18068Ter)
c.51245T>A (p.Leu17082Ter)
c.32861T>A (p.Leu10954Ter)
c.54356T>A (p.Leu18119Ter)
c.54353T>A (p.Leu18118Ter)
c.53786T>A (p.Leu17929Ter)
c.51128T>A (p.Leu17043Ter)
c.51047T>A (p.Leu17016Ter)
c.32810T>A (p.Leu10937Ter)
c.22664T>A (p.Leu7555Ter)
2g.178591990A>CCA349488772TTN,TTN-AS1c.52210T>G (p.Leu17404Val)
c.33295T>G (p.Leu11099Val)
c.33094T>G (p.Leu11032Val)
c.32719T>G (p.Leu10907Val)
c.59914T>G (p.Leu19972Val)
c.54991T>G (p.Leu18331Val)
n.597-5606A>C
n.3364+676A>C
c.59011T>G (p.Leu19671Val)
c.32905T>G (p.Leu10969Val)
c.32764T>G (p.Leu10922Val)
c.58807T>G (p.Leu19603Val)
c.54205T>G (p.Leu18069Val)
c.54202T>G (p.Leu18068Val)
c.51244T>G (p.Leu17082Val)
c.32860T>G (p.Leu10954Val)
c.54355T>G (p.Leu18119Val)
c.54352T>G (p.Leu18118Val)
c.53785T>G (p.Leu17929Val)
c.51127T>G (p.Leu17043Val)
c.51046T>G (p.Leu17016Val)
c.32809T>G (p.Leu10937Val)
c.22663T>G (p.Leu7555Val)
2g.178591990A>GCA430267009TTN,TTN-AS1c.52210T>C (p.Leu17404=)
c.33295T>C (p.Leu11099=)
c.33094T>C (p.Leu11032=)
c.32719T>C (p.Leu10907=)
c.59914T>C (p.Leu19972=)
c.54991T>C (p.Leu18331=)
n.597-5606A>G
n.3364+676A>G
c.59011T>C (p.Leu19671=)
c.32905T>C (p.Leu10969=)
c.32764T>C (p.Leu10922=)
c.58807T>C (p.Leu19603=)
c.54205T>C (p.Leu18069=)
c.54202T>C (p.Leu18068=)
c.51244T>C (p.Leu17082=)
c.32860T>C (p.Leu10954=)
c.54355T>C (p.Leu18119=)
c.54352T>C (p.Leu18118=)
c.53785T>C (p.Leu17929=)
c.51127T>C (p.Leu17043=)
c.51046T>C (p.Leu17016=)
c.32809T>C (p.Leu10937=)
c.22663T>C (p.Leu7555=)
2g.178591990A>TCA349488773TTN,TTN-AS1c.52210T>A (p.Leu17404Met)
c.33295T>A (p.Leu11099Met)
c.33094T>A (p.Leu11032Met)
c.32719T>A (p.Leu10907Met)
c.59914T>A (p.Leu19972Met)
c.54991T>A (p.Leu18331Met)
n.597-5606A>T
n.3364+676A>T
c.59011T>A (p.Leu19671Met)
c.32905T>A (p.Leu10969Met)
c.32764T>A (p.Leu10922Met)
c.58807T>A (p.Leu19603Met)
c.54205T>A (p.Leu18069Met)
c.54202T>A (p.Leu18068Met)
c.51244T>A (p.Leu17082Met)
c.32860T>A (p.Leu10954Met)
c.54355T>A (p.Leu18119Met)
c.54352T>A (p.Leu18118Met)
c.53785T>A (p.Leu17929Met)
c.51127T>A (p.Leu17043Met)
c.51046T>A (p.Leu17016Met)
c.32809T>A (p.Leu10937Met)
c.22663T>A (p.Leu7555Met)
2g.178591991A>CCA430267010TTN,TTN-AS1c.52209T>G (p.Ala17403=)
c.33294T>G (p.Ala11098=)
c.33093T>G (p.Ala11031=)
c.32718T>G (p.Ala10906=)
c.59913T>G (p.Ala19971=)
c.54990T>G (p.Ala18330=)
n.597-5605A>C
n.3364+677A>C
c.59010T>G (p.Ala19670=)
c.32904T>G (p.Ala10968=)
c.32763T>G (p.Ala10921=)
c.58806T>G (p.Ala19602=)
c.54204T>G (p.Ala18068=)
c.54201T>G (p.Ala18067=)
c.51243T>G (p.Ala17081=)
c.32859T>G (p.Ala10953=)
c.54354T>G (p.Ala18118=)
c.54351T>G (p.Ala18117=)
c.53784T>G (p.Ala17928=)
c.51126T>G (p.Ala17042=)
c.51045T>G (p.Ala17015=)
c.32808T>G (p.Ala10936=)
c.22662T>G (p.Ala7554=)
2g.178591991A>GCA430267011TTN,TTN-AS1c.52209T>C (p.Ala17403=)
c.33294T>C (p.Ala11098=)
c.33093T>C (p.Ala11031=)
c.32718T>C (p.Ala10906=)
c.59913T>C (p.Ala19971=)
c.54990T>C (p.Ala18330=)
n.597-5605A>G
n.3364+677A>G
c.59010T>C (p.Ala19670=)
c.32904T>C (p.Ala10968=)
c.32763T>C (p.Ala10921=)
c.58806T>C (p.Ala19602=)
c.54204T>C (p.Ala18068=)
c.54201T>C (p.Ala18067=)
c.51243T>C (p.Ala17081=)
c.32859T>C (p.Ala10953=)
c.54354T>C (p.Ala18118=)
c.54351T>C (p.Ala18117=)
c.53784T>C (p.Ala17928=)
c.51126T>C (p.Ala17042=)
c.51045T>C (p.Ala17015=)
c.32808T>C (p.Ala10936=)
c.22662T>C (p.Ala7554=)

Number of alleles fetched