Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178552663G>ACA1987815TTN,TTN-AS1c.82533C>T (p.His27511=)
c.63618C>T (p.His21206=)
c.63417C>T (p.His21139=)
c.63042C>T (p.His21014=)
c.90237C>T (p.His30079=)
c.85314C>T (p.His28438=)
n.447-18637G>A
n.2043+10302G>A
c.89334C>T (p.His29778=)
c.63228C>T (p.His21076=)
c.63087C>T (p.His21029=)
c.89130C>T (p.His29710=)
c.84528C>T (p.His28176=)
c.84525C>T (p.His28175=)
c.81567C>T (p.His27189=)
c.63183C>T (p.His21061=)
c.84678C>T (p.His28226=)
c.84675C>T (p.His28225=)
c.84108C>T (p.His28036=)
c.81450C>T (p.His27150=)
c.81369C>T (p.His27123=)
c.63132C>T (p.His21044=)
c.52986C>T (p.His17662=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178552663G>CCA349512629TTN,TTN-AS1c.82533C>G (p.His27511Gln)
c.63618C>G (p.His21206Gln)
c.63417C>G (p.His21139Gln)
c.63042C>G (p.His21014Gln)
c.90237C>G (p.His30079Gln)
c.85314C>G (p.His28438Gln)
n.447-18637G>C
n.2043+10302G>C
c.89334C>G (p.His29778Gln)
c.63228C>G (p.His21076Gln)
c.63087C>G (p.His21029Gln)
c.89130C>G (p.His29710Gln)
c.84528C>G (p.His28176Gln)
c.84525C>G (p.His28175Gln)
c.81567C>G (p.His27189Gln)
c.63183C>G (p.His21061Gln)
c.84678C>G (p.His28226Gln)
c.84675C>G (p.His28225Gln)
c.84108C>G (p.His28036Gln)
c.81450C>G (p.His27150Gln)
c.81369C>G (p.His27123Gln)
c.63132C>G (p.His21044Gln)
c.52986C>G (p.His17662Gln)
 dbSNP
2g.178552663G=CA1310522187TTN,TTN-AS1c.82533C= (p.His27511=)
c.63618C= (p.His21206=)
c.63417C= (p.His21139=)
c.63042C= (p.His21014=)
c.90237C= (p.His30079=)
c.85314C= (p.His28438=)
n.447-18637G=
n.2043+10302G=
c.89334C= (p.His29778=)
c.63228C= (p.His21076=)
c.63087C= (p.His21029=)
c.89130C= (p.His29710=)
c.84528C= (p.His28176=)
c.84525C= (p.His28175=)
c.81567C= (p.His27189=)
c.63183C= (p.His21061=)
c.84678C= (p.His28226=)
c.84675C= (p.His28225=)
c.84108C= (p.His28036=)
c.81450C= (p.His27150=)
c.81369C= (p.His27123=)
c.63132C= (p.His21044=)
c.52986C= (p.His17662=)
2g.178552663G>TCA349512630TTN,TTN-AS1c.82533C>A (p.His27511Gln)
c.63618C>A (p.His21206Gln)
c.63417C>A (p.His21139Gln)
c.63042C>A (p.His21014Gln)
c.90237C>A (p.His30079Gln)
c.85314C>A (p.His28438Gln)
n.447-18637G>T
n.2043+10302G>T
c.89334C>A (p.His29778Gln)
c.63228C>A (p.His21076Gln)
c.63087C>A (p.His21029Gln)
c.89130C>A (p.His29710Gln)
c.84528C>A (p.His28176Gln)
c.84525C>A (p.His28175Gln)
c.81567C>A (p.His27189Gln)
c.63183C>A (p.His21061Gln)
c.84678C>A (p.His28226Gln)
c.84675C>A (p.His28225Gln)
c.84108C>A (p.His28036Gln)
c.81450C>A (p.His27150Gln)
c.81369C>A (p.His27123Gln)
c.63132C>A (p.His21044Gln)
c.52986C>A (p.His17662Gln)
2g.178552664T>ACA349512631TTN,TTN-AS1c.82532A>T (p.His27511Leu)
c.63617A>T (p.His21206Leu)
c.63416A>T (p.His21139Leu)
c.63041A>T (p.His21014Leu)
c.90236A>T (p.His30079Leu)
c.85313A>T (p.His28438Leu)
n.447-18636T>A
n.2043+10303T>A
c.89333A>T (p.His29778Leu)
c.63227A>T (p.His21076Leu)
c.63086A>T (p.His21029Leu)
c.89129A>T (p.His29710Leu)
c.84527A>T (p.His28176Leu)
c.84524A>T (p.His28175Leu)
c.81566A>T (p.His27189Leu)
c.63182A>T (p.His21061Leu)
c.84677A>T (p.His28226Leu)
c.84674A>T (p.His28225Leu)
c.84107A>T (p.His28036Leu)
c.81449A>T (p.His27150Leu)
c.81368A>T (p.His27123Leu)
c.63131A>T (p.His21044Leu)
c.52985A>T (p.His17662Leu)
2g.178552664T>CCA349512633TTN,TTN-AS1c.82532A>G (p.His27511Arg)
c.63617A>G (p.His21206Arg)
c.63416A>G (p.His21139Arg)
c.63041A>G (p.His21014Arg)
c.90236A>G (p.His30079Arg)
c.85313A>G (p.His28438Arg)
n.447-18636T>C
n.2043+10303T>C
c.89333A>G (p.His29778Arg)
c.63227A>G (p.His21076Arg)
c.63086A>G (p.His21029Arg)
c.89129A>G (p.His29710Arg)
c.84527A>G (p.His28176Arg)
c.84524A>G (p.His28175Arg)
c.81566A>G (p.His27189Arg)
c.63182A>G (p.His21061Arg)
c.84677A>G (p.His28226Arg)
c.84674A>G (p.His28225Arg)
c.84107A>G (p.His28036Arg)
c.81449A>G (p.His27150Arg)
c.81368A>G (p.His27123Arg)
c.63131A>G (p.His21044Arg)
c.52985A>G (p.His17662Arg)
2g.178552664T>GCA349512632TTN,TTN-AS1c.82532A>C (p.His27511Pro)
c.63617A>C (p.His21206Pro)
c.63416A>C (p.His21139Pro)
c.63041A>C (p.His21014Pro)
c.90236A>C (p.His30079Pro)
c.85313A>C (p.His28438Pro)
n.447-18636T>G
n.2043+10303T>G
c.89333A>C (p.His29778Pro)
c.63227A>C (p.His21076Pro)
c.63086A>C (p.His21029Pro)
c.89129A>C (p.His29710Pro)
c.84527A>C (p.His28176Pro)
c.84524A>C (p.His28175Pro)
c.81566A>C (p.His27189Pro)
c.63182A>C (p.His21061Pro)
c.84677A>C (p.His28226Pro)
c.84674A>C (p.His28225Pro)
c.84107A>C (p.His28036Pro)
c.81449A>C (p.His27150Pro)
c.81368A>C (p.His27123Pro)
c.63131A>C (p.His21044Pro)
c.52985A>C (p.His17662Pro)
2g.178552665G>ACA349512634TTN,TTN-AS1c.82531C>T (p.His27511Tyr)
c.63616C>T (p.His21206Tyr)
c.63415C>T (p.His21139Tyr)
c.63040C>T (p.His21014Tyr)
c.90235C>T (p.His30079Tyr)
c.85312C>T (p.His28438Tyr)
n.447-18635G>A
n.2043+10304G>A
c.89332C>T (p.His29778Tyr)
c.63226C>T (p.His21076Tyr)
c.63085C>T (p.His21029Tyr)
c.89128C>T (p.His29710Tyr)
c.84526C>T (p.His28176Tyr)
c.84523C>T (p.His28175Tyr)
c.81565C>T (p.His27189Tyr)
c.63181C>T (p.His21061Tyr)
c.84676C>T (p.His28226Tyr)
c.84673C>T (p.His28225Tyr)
c.84106C>T (p.His28036Tyr)
c.81448C>T (p.His27150Tyr)
c.81367C>T (p.His27123Tyr)
c.63130C>T (p.His21044Tyr)
c.52984C>T (p.His17662Tyr)
2g.178552665G>CCA349512635TTN,TTN-AS1c.82531C>G (p.His27511Asp)
c.63616C>G (p.His21206Asp)
c.63415C>G (p.His21139Asp)
c.63040C>G (p.His21014Asp)
c.90235C>G (p.His30079Asp)
c.85312C>G (p.His28438Asp)
n.447-18635G>C
n.2043+10304G>C
c.89332C>G (p.His29778Asp)
c.63226C>G (p.His21076Asp)
c.63085C>G (p.His21029Asp)
c.89128C>G (p.His29710Asp)
c.84526C>G (p.His28176Asp)
c.84523C>G (p.His28175Asp)
c.81565C>G (p.His27189Asp)
c.63181C>G (p.His21061Asp)
c.84676C>G (p.His28226Asp)
c.84673C>G (p.His28225Asp)
c.84106C>G (p.His28036Asp)
c.81448C>G (p.His27150Asp)
c.81367C>G (p.His27123Asp)
c.63130C>G (p.His21044Asp)
c.52984C>G (p.His17662Asp)
2g.178552665G>TCA349512637TTN,TTN-AS1c.82531C>A (p.His27511Asn)
c.63616C>A (p.His21206Asn)
c.63415C>A (p.His21139Asn)
c.63040C>A (p.His21014Asn)
c.90235C>A (p.His30079Asn)
c.85312C>A (p.His28438Asn)
n.447-18635G>T
n.2043+10304G>T
c.89332C>A (p.His29778Asn)
c.63226C>A (p.His21076Asn)
c.63085C>A (p.His21029Asn)
c.89128C>A (p.His29710Asn)
c.84526C>A (p.His28176Asn)
c.84523C>A (p.His28175Asn)
c.81565C>A (p.His27189Asn)
c.63181C>A (p.His21061Asn)
c.84676C>A (p.His28226Asn)
c.84673C>A (p.His28225Asn)
c.84106C>A (p.His28036Asn)
c.81448C>A (p.His27150Asn)
c.81367C>A (p.His27123Asn)
c.63130C>A (p.His21044Asn)
c.52984C>A (p.His17662Asn)
2g.178552666G>ACA430245604TTN,TTN-AS1c.82530C>T (p.Ser27510=)
c.63615C>T (p.Ser21205=)
c.63414C>T (p.Ser21138=)
c.63039C>T (p.Ser21013=)
c.90234C>T (p.Ser30078=)
c.85311C>T (p.Ser28437=)
n.447-18634G>A
n.2043+10305G>A
c.89331C>T (p.Ser29777=)
c.63225C>T (p.Ser21075=)
c.63084C>T (p.Ser21028=)
c.89127C>T (p.Ser29709=)
c.84525C>T (p.Ser28175=)
c.84522C>T (p.Ser28174=)
c.81564C>T (p.Ser27188=)
c.63180C>T (p.Ser21060=)
c.84675C>T (p.Ser28225=)
c.84672C>T (p.Ser28224=)
c.84105C>T (p.Ser28035=)
c.81447C>T (p.Ser27149=)
c.81366C>T (p.Ser27122=)
c.63129C>T (p.Ser21043=)
c.52983C>T (p.Ser17661=)
 gnomAD v4
2g.178552666G>CCA430245605TTN,TTN-AS1c.82530C>G (p.Ser27510=)
c.63615C>G (p.Ser21205=)
c.63414C>G (p.Ser21138=)
c.63039C>G (p.Ser21013=)
c.90234C>G (p.Ser30078=)
c.85311C>G (p.Ser28437=)
n.447-18634G>C
n.2043+10305G>C
c.89331C>G (p.Ser29777=)
c.63225C>G (p.Ser21075=)
c.63084C>G (p.Ser21028=)
c.89127C>G (p.Ser29709=)
c.84525C>G (p.Ser28175=)
c.84522C>G (p.Ser28174=)
c.81564C>G (p.Ser27188=)
c.63180C>G (p.Ser21060=)
c.84675C>G (p.Ser28225=)
c.84672C>G (p.Ser28224=)
c.84105C>G (p.Ser28035=)
c.81447C>G (p.Ser27149=)
c.81366C>G (p.Ser27122=)
c.63129C>G (p.Ser21043=)
c.52983C>G (p.Ser17661=)
2g.178552666G>TCA430245606TTN,TTN-AS1c.82530C>A (p.Ser27510=)
c.63615C>A (p.Ser21205=)
c.63414C>A (p.Ser21138=)
c.63039C>A (p.Ser21013=)
c.90234C>A (p.Ser30078=)
c.85311C>A (p.Ser28437=)
n.447-18634G>T
n.2043+10305G>T
c.89331C>A (p.Ser29777=)
c.63225C>A (p.Ser21075=)
c.63084C>A (p.Ser21028=)
c.89127C>A (p.Ser29709=)
c.84525C>A (p.Ser28175=)
c.84522C>A (p.Ser28174=)
c.81564C>A (p.Ser27188=)
c.63180C>A (p.Ser21060=)
c.84675C>A (p.Ser28225=)
c.84672C>A (p.Ser28224=)
c.84105C>A (p.Ser28035=)
c.81447C>A (p.Ser27149=)
c.81366C>A (p.Ser27122=)
c.63129C>A (p.Ser21043=)
c.52983C>A (p.Ser17661=)
2g.178552667G>ACA349512638TTN,TTN-AS1c.82529C>T (p.Ser27510Phe)
c.63614C>T (p.Ser21205Phe)
c.63413C>T (p.Ser21138Phe)
c.63038C>T (p.Ser21013Phe)
c.90233C>T (p.Ser30078Phe)
c.85310C>T (p.Ser28437Phe)
n.447-18633G>A
n.2043+10306G>A
c.89330C>T (p.Ser29777Phe)
c.63224C>T (p.Ser21075Phe)
c.63083C>T (p.Ser21028Phe)
c.89126C>T (p.Ser29709Phe)
c.84524C>T (p.Ser28175Phe)
c.84521C>T (p.Ser28174Phe)
c.81563C>T (p.Ser27188Phe)
c.63179C>T (p.Ser21060Phe)
c.84674C>T (p.Ser28225Phe)
c.84671C>T (p.Ser28224Phe)
c.84104C>T (p.Ser28035Phe)
c.81446C>T (p.Ser27149Phe)
c.81365C>T (p.Ser27122Phe)
c.63128C>T (p.Ser21043Phe)
c.52982C>T (p.Ser17661Phe)
 COSMIC COSMIC COSMIC COSMIC
2g.178552667G>CCA349512639TTN,TTN-AS1c.82529C>G (p.Ser27510Cys)
c.63614C>G (p.Ser21205Cys)
c.63413C>G (p.Ser21138Cys)
c.63038C>G (p.Ser21013Cys)
c.90233C>G (p.Ser30078Cys)
c.85310C>G (p.Ser28437Cys)
n.447-18633G>C
n.2043+10306G>C
c.89330C>G (p.Ser29777Cys)
c.63224C>G (p.Ser21075Cys)
c.63083C>G (p.Ser21028Cys)
c.89126C>G (p.Ser29709Cys)
c.84524C>G (p.Ser28175Cys)
c.84521C>G (p.Ser28174Cys)
c.81563C>G (p.Ser27188Cys)
c.63179C>G (p.Ser21060Cys)
c.84674C>G (p.Ser28225Cys)
c.84671C>G (p.Ser28224Cys)
c.84104C>G (p.Ser28035Cys)
c.81446C>G (p.Ser27149Cys)
c.81365C>G (p.Ser27122Cys)
c.63128C>G (p.Ser21043Cys)
c.52982C>G (p.Ser17661Cys)
2g.178552667G>TCA349512643TTN,TTN-AS1c.82529C>A (p.Ser27510Tyr)
c.63614C>A (p.Ser21205Tyr)
c.63413C>A (p.Ser21138Tyr)
c.63038C>A (p.Ser21013Tyr)
c.90233C>A (p.Ser30078Tyr)
c.85310C>A (p.Ser28437Tyr)
n.447-18633G>T
n.2043+10306G>T
c.89330C>A (p.Ser29777Tyr)
c.63224C>A (p.Ser21075Tyr)
c.63083C>A (p.Ser21028Tyr)
c.89126C>A (p.Ser29709Tyr)
c.84524C>A (p.Ser28175Tyr)
c.84521C>A (p.Ser28174Tyr)
c.81563C>A (p.Ser27188Tyr)
c.63179C>A (p.Ser21060Tyr)
c.84674C>A (p.Ser28225Tyr)
c.84671C>A (p.Ser28224Tyr)
c.84104C>A (p.Ser28035Tyr)
c.81446C>A (p.Ser27149Tyr)
c.81365C>A (p.Ser27122Tyr)
c.63128C>A (p.Ser21043Tyr)
c.52982C>A (p.Ser17661Tyr)
 COSMIC COSMIC COSMIC COSMIC
2g.178552668A>CCA349512646TTN,TTN-AS1c.82528T>G (p.Ser27510Ala)
c.63613T>G (p.Ser21205Ala)
c.63412T>G (p.Ser21138Ala)
c.63037T>G (p.Ser21013Ala)
c.90232T>G (p.Ser30078Ala)
c.85309T>G (p.Ser28437Ala)
n.447-18632A>C
n.2043+10307A>C
c.89329T>G (p.Ser29777Ala)
c.63223T>G (p.Ser21075Ala)
c.63082T>G (p.Ser21028Ala)
c.89125T>G (p.Ser29709Ala)
c.84523T>G (p.Ser28175Ala)
c.84520T>G (p.Ser28174Ala)
c.81562T>G (p.Ser27188Ala)
c.63178T>G (p.Ser21060Ala)
c.84673T>G (p.Ser28225Ala)
c.84670T>G (p.Ser28224Ala)
c.84103T>G (p.Ser28035Ala)
c.81445T>G (p.Ser27149Ala)
c.81364T>G (p.Ser27122Ala)
c.63127T>G (p.Ser21043Ala)
c.52981T>G (p.Ser17661Ala)
2g.178552668A>GCA349512657TTN,TTN-AS1c.82528T>C (p.Ser27510Pro)
c.63613T>C (p.Ser21205Pro)
c.63412T>C (p.Ser21138Pro)
c.63037T>C (p.Ser21013Pro)
c.90232T>C (p.Ser30078Pro)
c.85309T>C (p.Ser28437Pro)
n.447-18632A>G
n.2043+10307A>G
c.89329T>C (p.Ser29777Pro)
c.63223T>C (p.Ser21075Pro)
c.63082T>C (p.Ser21028Pro)
c.89125T>C (p.Ser29709Pro)
c.84523T>C (p.Ser28175Pro)
c.84520T>C (p.Ser28174Pro)
c.81562T>C (p.Ser27188Pro)
c.63178T>C (p.Ser21060Pro)
c.84673T>C (p.Ser28225Pro)
c.84670T>C (p.Ser28224Pro)
c.84103T>C (p.Ser28035Pro)
c.81445T>C (p.Ser27149Pro)
c.81364T>C (p.Ser27122Pro)
c.63127T>C (p.Ser21043Pro)
c.52981T>C (p.Ser17661Pro)
2g.178552668A>TCA349512660TTN,TTN-AS1c.82528T>A (p.Ser27510Thr)
c.63613T>A (p.Ser21205Thr)
c.63412T>A (p.Ser21138Thr)
c.63037T>A (p.Ser21013Thr)
c.90232T>A (p.Ser30078Thr)
c.85309T>A (p.Ser28437Thr)
n.447-18632A>T
n.2043+10307A>T
c.89329T>A (p.Ser29777Thr)
c.63223T>A (p.Ser21075Thr)
c.63082T>A (p.Ser21028Thr)
c.89125T>A (p.Ser29709Thr)
c.84523T>A (p.Ser28175Thr)
c.84520T>A (p.Ser28174Thr)
c.81562T>A (p.Ser27188Thr)
c.63178T>A (p.Ser21060Thr)
c.84673T>A (p.Ser28225Thr)
c.84670T>A (p.Ser28224Thr)
c.84103T>A (p.Ser28035Thr)
c.81445T>A (p.Ser27149Thr)
c.81364T>A (p.Ser27122Thr)
c.63127T>A (p.Ser21043Thr)
c.52981T>A (p.Ser17661Thr)
2g.178552669C>ACA349512664TTN,TTN-AS1c.82527G>T (p.Trp27509Cys)
c.63612G>T (p.Trp21204Cys)
c.63411G>T (p.Trp21137Cys)
c.63036G>T (p.Trp21012Cys)
c.90231G>T (p.Trp30077Cys)
c.85308G>T (p.Trp28436Cys)
n.447-18631C>A
n.2043+10308C>A
c.89328G>T (p.Trp29776Cys)
c.63222G>T (p.Trp21074Cys)
c.63081G>T (p.Trp21027Cys)
c.89124G>T (p.Trp29708Cys)
c.84522G>T (p.Trp28174Cys)
c.84519G>T (p.Trp28173Cys)
c.81561G>T (p.Trp27187Cys)
c.63177G>T (p.Trp21059Cys)
c.84672G>T (p.Trp28224Cys)
c.84669G>T (p.Trp28223Cys)
c.84102G>T (p.Trp28034Cys)
c.81444G>T (p.Trp27148Cys)
c.81363G>T (p.Trp27121Cys)
c.63126G>T (p.Trp21042Cys)
c.52980G>T (p.Trp17660Cys)
2g.178552669C>GCA349512666TTN,TTN-AS1c.82527G>C (p.Trp27509Cys)
c.63612G>C (p.Trp21204Cys)
c.63411G>C (p.Trp21137Cys)
c.63036G>C (p.Trp21012Cys)
c.90231G>C (p.Trp30077Cys)
c.85308G>C (p.Trp28436Cys)
n.447-18631C>G
n.2043+10308C>G
c.89328G>C (p.Trp29776Cys)
c.63222G>C (p.Trp21074Cys)
c.63081G>C (p.Trp21027Cys)
c.89124G>C (p.Trp29708Cys)
c.84522G>C (p.Trp28174Cys)
c.84519G>C (p.Trp28173Cys)
c.81561G>C (p.Trp27187Cys)
c.63177G>C (p.Trp21059Cys)
c.84672G>C (p.Trp28224Cys)
c.84669G>C (p.Trp28223Cys)
c.84102G>C (p.Trp28034Cys)
c.81444G>C (p.Trp27148Cys)
c.81363G>C (p.Trp27121Cys)
c.63126G>C (p.Trp21042Cys)
c.52980G>C (p.Trp17660Cys)
2g.178552669C>TCA349512681TTN,TTN-AS1c.82527G>A (p.Trp27509Ter)
c.63612G>A (p.Trp21204Ter)
c.63411G>A (p.Trp21137Ter)
c.63036G>A (p.Trp21012Ter)
c.90231G>A (p.Trp30077Ter)
c.85308G>A (p.Trp28436Ter)
n.447-18631C>T
n.2043+10308C>T
c.89328G>A (p.Trp29776Ter)
c.63222G>A (p.Trp21074Ter)
c.63081G>A (p.Trp21027Ter)
c.89124G>A (p.Trp29708Ter)
c.84522G>A (p.Trp28174Ter)
c.84519G>A (p.Trp28173Ter)
c.81561G>A (p.Trp27187Ter)
c.63177G>A (p.Trp21059Ter)
c.84672G>A (p.Trp28224Ter)
c.84669G>A (p.Trp28223Ter)
c.84102G>A (p.Trp28034Ter)
c.81444G>A (p.Trp27148Ter)
c.81363G>A (p.Trp27121Ter)
c.63126G>A (p.Trp21042Ter)
c.52980G>A (p.Trp17660Ter)
 ClinVar dbSNP
2g.178552670C>ACA349512702TTN,TTN-AS1c.82526G>T (p.Trp27509Leu)
c.63611G>T (p.Trp21204Leu)
c.63410G>T (p.Trp21137Leu)
c.63035G>T (p.Trp21012Leu)
c.90230G>T (p.Trp30077Leu)
c.85307G>T (p.Trp28436Leu)
n.447-18630C>A
n.2043+10309C>A
c.89327G>T (p.Trp29776Leu)
c.63221G>T (p.Trp21074Leu)
c.63080G>T (p.Trp21027Leu)
c.89123G>T (p.Trp29708Leu)
c.84521G>T (p.Trp28174Leu)
c.84518G>T (p.Trp28173Leu)
c.81560G>T (p.Trp27187Leu)
c.63176G>T (p.Trp21059Leu)
c.84671G>T (p.Trp28224Leu)
c.84668G>T (p.Trp28223Leu)
c.84101G>T (p.Trp28034Leu)
c.81443G>T (p.Trp27148Leu)
c.81362G>T (p.Trp27121Leu)
c.63125G>T (p.Trp21042Leu)
c.52979G>T (p.Trp17660Leu)
2g.178552670C>GCA349512685TTN,TTN-AS1c.82526G>C (p.Trp27509Ser)
c.63611G>C (p.Trp21204Ser)
c.63410G>C (p.Trp21137Ser)
c.63035G>C (p.Trp21012Ser)
c.90230G>C (p.Trp30077Ser)
c.85307G>C (p.Trp28436Ser)
n.447-18630C>G
n.2043+10309C>G
c.89327G>C (p.Trp29776Ser)
c.63221G>C (p.Trp21074Ser)
c.63080G>C (p.Trp21027Ser)
c.89123G>C (p.Trp29708Ser)
c.84521G>C (p.Trp28174Ser)
c.84518G>C (p.Trp28173Ser)
c.81560G>C (p.Trp27187Ser)
c.63176G>C (p.Trp21059Ser)
c.84671G>C (p.Trp28224Ser)
c.84668G>C (p.Trp28223Ser)
c.84101G>C (p.Trp28034Ser)
c.81443G>C (p.Trp27148Ser)
c.81362G>C (p.Trp27121Ser)
c.63125G>C (p.Trp21042Ser)
c.52979G>C (p.Trp17660Ser)
2g.178552670C>TCA349512687TTN,TTN-AS1c.82526G>A (p.Trp27509Ter)
c.63611G>A (p.Trp21204Ter)
c.63410G>A (p.Trp21137Ter)
c.63035G>A (p.Trp21012Ter)
c.90230G>A (p.Trp30077Ter)
c.85307G>A (p.Trp28436Ter)
n.447-18630C>T
n.2043+10309C>T
c.89327G>A (p.Trp29776Ter)
c.63221G>A (p.Trp21074Ter)
c.63080G>A (p.Trp21027Ter)
c.89123G>A (p.Trp29708Ter)
c.84521G>A (p.Trp28174Ter)
c.84518G>A (p.Trp28173Ter)
c.81560G>A (p.Trp27187Ter)
c.63176G>A (p.Trp21059Ter)
c.84671G>A (p.Trp28224Ter)
c.84668G>A (p.Trp28223Ter)
c.84101G>A (p.Trp28034Ter)
c.81443G>A (p.Trp27148Ter)
c.81362G>A (p.Trp27121Ter)
c.63125G>A (p.Trp21042Ter)
c.52979G>A (p.Trp17660Ter)
2g.178552671A>CCA349512705TTN,TTN-AS1c.82525T>G (p.Trp27509Gly)
c.63610T>G (p.Trp21204Gly)
c.63409T>G (p.Trp21137Gly)
c.63034T>G (p.Trp21012Gly)
c.90229T>G (p.Trp30077Gly)
c.85306T>G (p.Trp28436Gly)
n.447-18629A>C
n.2043+10310A>C
c.89326T>G (p.Trp29776Gly)
c.63220T>G (p.Trp21074Gly)
c.63079T>G (p.Trp21027Gly)
c.89122T>G (p.Trp29708Gly)
c.84520T>G (p.Trp28174Gly)
c.84517T>G (p.Trp28173Gly)
c.81559T>G (p.Trp27187Gly)
c.63175T>G (p.Trp21059Gly)
c.84670T>G (p.Trp28224Gly)
c.84667T>G (p.Trp28223Gly)
c.84100T>G (p.Trp28034Gly)
c.81442T>G (p.Trp27148Gly)
c.81361T>G (p.Trp27121Gly)
c.63124T>G (p.Trp21042Gly)
c.52978T>G (p.Trp17660Gly)
2g.178552671A>GCA349512707TTN,TTN-AS1c.82525T>C (p.Trp27509Arg)
c.63610T>C (p.Trp21204Arg)
c.63409T>C (p.Trp21137Arg)
c.63034T>C (p.Trp21012Arg)
c.90229T>C (p.Trp30077Arg)
c.85306T>C (p.Trp28436Arg)
n.447-18629A>G
n.2043+10310A>G
c.89326T>C (p.Trp29776Arg)
c.63220T>C (p.Trp21074Arg)
c.63079T>C (p.Trp21027Arg)
c.89122T>C (p.Trp29708Arg)
c.84520T>C (p.Trp28174Arg)
c.84517T>C (p.Trp28173Arg)
c.81559T>C (p.Trp27187Arg)
c.63175T>C (p.Trp21059Arg)
c.84670T>C (p.Trp28224Arg)
c.84667T>C (p.Trp28223Arg)
c.84100T>C (p.Trp28034Arg)
c.81442T>C (p.Trp27148Arg)
c.81361T>C (p.Trp27121Arg)
c.63124T>C (p.Trp21042Arg)
c.52978T>C (p.Trp17660Arg)
2g.178552671A>TCA349512709TTN,TTN-AS1c.82525T>A (p.Trp27509Arg)
c.63610T>A (p.Trp21204Arg)
c.63409T>A (p.Trp21137Arg)
c.63034T>A (p.Trp21012Arg)
c.90229T>A (p.Trp30077Arg)
c.85306T>A (p.Trp28436Arg)
n.447-18629A>T
n.2043+10310A>T
c.89326T>A (p.Trp29776Arg)
c.63220T>A (p.Trp21074Arg)
c.63079T>A (p.Trp21027Arg)
c.89122T>A (p.Trp29708Arg)
c.84520T>A (p.Trp28174Arg)
c.84517T>A (p.Trp28173Arg)
c.81559T>A (p.Trp27187Arg)
c.63175T>A (p.Trp21059Arg)
c.84670T>A (p.Trp28224Arg)
c.84667T>A (p.Trp28223Arg)
c.84100T>A (p.Trp28034Arg)
c.81442T>A (p.Trp27148Arg)
c.81361T>A (p.Trp27121Arg)
c.63124T>A (p.Trp21042Arg)
c.52978T>A (p.Trp17660Arg)
 COSMIC COSMIC COSMIC COSMIC
2g.178552672C>ACA430245614TTN,TTN-AS1c.82524G>T (p.Thr27508=)
c.63609G>T (p.Thr21203=)
c.63408G>T (p.Thr21136=)
c.63033G>T (p.Thr21011=)
c.90228G>T (p.Thr30076=)
c.85305G>T (p.Thr28435=)
n.447-18628C>A
n.2043+10311C>A
c.89325G>T (p.Thr29775=)
c.63219G>T (p.Thr21073=)
c.63078G>T (p.Thr21026=)
c.89121G>T (p.Thr29707=)
c.84519G>T (p.Thr28173=)
c.84516G>T (p.Thr28172=)
c.81558G>T (p.Thr27186=)
c.63174G>T (p.Thr21058=)
c.84669G>T (p.Thr28223=)
c.84666G>T (p.Thr28222=)
c.84099G>T (p.Thr28033=)
c.81441G>T (p.Thr27147=)
c.81360G>T (p.Thr27120=)
c.63123G>T (p.Thr21041=)
c.52977G>T (p.Thr17659=)
 gnomAD v4
2g.178552672C=CA1310522189TTN,TTN-AS1c.82524G= (p.Thr27508=)
c.63609G= (p.Thr21203=)
c.63408G= (p.Thr21136=)
c.63033G= (p.Thr21011=)
c.90228G= (p.Thr30076=)
c.85305G= (p.Thr28435=)
n.447-18628C=
n.2043+10311C=
c.89325G= (p.Thr29775=)
c.63219G= (p.Thr21073=)
c.63078G= (p.Thr21026=)
c.89121G= (p.Thr29707=)
c.84519G= (p.Thr28173=)
c.84516G= (p.Thr28172=)
c.81558G= (p.Thr27186=)
c.63174G= (p.Thr21058=)
c.84669G= (p.Thr28223=)
c.84666G= (p.Thr28222=)
c.84099G= (p.Thr28033=)
c.81441G= (p.Thr27147=)
c.81360G= (p.Thr27120=)
c.63123G= (p.Thr21041=)
c.52977G= (p.Thr17659=)
2g.178552672C>GCA430245616TTN,TTN-AS1c.82524G>C (p.Thr27508=)
c.63609G>C (p.Thr21203=)
c.63408G>C (p.Thr21136=)
c.63033G>C (p.Thr21011=)
c.90228G>C (p.Thr30076=)
c.85305G>C (p.Thr28435=)
n.447-18628C>G
n.2043+10311C>G
c.89325G>C (p.Thr29775=)
c.63219G>C (p.Thr21073=)
c.63078G>C (p.Thr21026=)
c.89121G>C (p.Thr29707=)
c.84519G>C (p.Thr28173=)
c.84516G>C (p.Thr28172=)
c.81558G>C (p.Thr27186=)
c.63174G>C (p.Thr21058=)
c.84669G>C (p.Thr28223=)
c.84666G>C (p.Thr28222=)
c.84099G>C (p.Thr28033=)
c.81441G>C (p.Thr27147=)
c.81360G>C (p.Thr27120=)
c.63123G>C (p.Thr21041=)
c.52977G>C (p.Thr17659=)
2g.178552672C>TCA1987816TTN,TTN-AS1c.82524G>A (p.Thr27508=)
c.63609G>A (p.Thr21203=)
c.63408G>A (p.Thr21136=)
c.63033G>A (p.Thr21011=)
c.90228G>A (p.Thr30076=)
c.85305G>A (p.Thr28435=)
n.447-18628C>T
n.2043+10311C>T
c.89325G>A (p.Thr29775=)
c.63219G>A (p.Thr21073=)
c.63078G>A (p.Thr21026=)
c.89121G>A (p.Thr29707=)
c.84519G>A (p.Thr28173=)
c.84516G>A (p.Thr28172=)
c.81558G>A (p.Thr27186=)
c.63174G>A (p.Thr21058=)
c.84669G>A (p.Thr28223=)
c.84666G>A (p.Thr28222=)
c.84099G>A (p.Thr28033=)
c.81441G>A (p.Thr27147=)
c.81360G>A (p.Thr27120=)
c.63123G>A (p.Thr21041=)
c.52977G>A (p.Thr17659=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178552673G>ACA181638TTN,TTN-AS1c.82523C>T (p.Thr27508Met)
c.63608C>T (p.Thr21203Met)
c.63407C>T (p.Thr21136Met)
c.63032C>T (p.Thr21011Met)
c.90227C>T (p.Thr30076Met)
c.85304C>T (p.Thr28435Met)
n.447-18627G>A
n.2043+10312G>A
c.89324C>T (p.Thr29775Met)
c.63218C>T (p.Thr21073Met)
c.63077C>T (p.Thr21026Met)
c.89120C>T (p.Thr29707Met)
c.84518C>T (p.Thr28173Met)
c.84515C>T (p.Thr28172Met)
c.81557C>T (p.Thr27186Met)
c.63173C>T (p.Thr21058Met)
c.84668C>T (p.Thr28223Met)
c.84665C>T (p.Thr28222Met)
c.84098C>T (p.Thr28033Met)
c.81440C>T (p.Thr27147Met)
c.81359C>T (p.Thr27120Met)
c.63122C>T (p.Thr21041Met)
c.52976C>T (p.Thr17659Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178552673G>CCA349512721TTN,TTN-AS1c.82523C>G (p.Thr27508Arg)
c.63608C>G (p.Thr21203Arg)
c.63407C>G (p.Thr21136Arg)
c.63032C>G (p.Thr21011Arg)
c.90227C>G (p.Thr30076Arg)
c.85304C>G (p.Thr28435Arg)
n.447-18627G>C
n.2043+10312G>C
c.89324C>G (p.Thr29775Arg)
c.63218C>G (p.Thr21073Arg)
c.63077C>G (p.Thr21026Arg)
c.89120C>G (p.Thr29707Arg)
c.84518C>G (p.Thr28173Arg)
c.84515C>G (p.Thr28172Arg)
c.81557C>G (p.Thr27186Arg)
c.63173C>G (p.Thr21058Arg)
c.84668C>G (p.Thr28223Arg)
c.84665C>G (p.Thr28222Arg)
c.84098C>G (p.Thr28033Arg)
c.81440C>G (p.Thr27147Arg)
c.81359C>G (p.Thr27120Arg)
c.63122C>G (p.Thr21041Arg)
c.52976C>G (p.Thr17659Arg)
2g.178552673G=CA1310522191TTN,TTN-AS1c.82523C= (p.Thr27508=)
c.63608C= (p.Thr21203=)
c.63407C= (p.Thr21136=)
c.63032C= (p.Thr21011=)
c.90227C= (p.Thr30076=)
c.85304C= (p.Thr28435=)
n.447-18627G=
n.2043+10312G=
c.89324C= (p.Thr29775=)
c.63218C= (p.Thr21073=)
c.63077C= (p.Thr21026=)
c.89120C= (p.Thr29707=)
c.84518C= (p.Thr28173=)
c.84515C= (p.Thr28172=)
c.81557C= (p.Thr27186=)
c.63173C= (p.Thr21058=)
c.84668C= (p.Thr28223=)
c.84665C= (p.Thr28222=)
c.84098C= (p.Thr28033=)
c.81440C= (p.Thr27147=)
c.81359C= (p.Thr27120=)
c.63122C= (p.Thr21041=)
c.52976C= (p.Thr17659=)
2g.178552673G>TCA349512733TTN,TTN-AS1c.82523C>A (p.Thr27508Lys)
c.63608C>A (p.Thr21203Lys)
c.63407C>A (p.Thr21136Lys)
c.63032C>A (p.Thr21011Lys)
c.90227C>A (p.Thr30076Lys)
c.85304C>A (p.Thr28435Lys)
n.447-18627G>T
n.2043+10312G>T
c.89324C>A (p.Thr29775Lys)
c.63218C>A (p.Thr21073Lys)
c.63077C>A (p.Thr21026Lys)
c.89120C>A (p.Thr29707Lys)
c.84518C>A (p.Thr28173Lys)
c.84515C>A (p.Thr28172Lys)
c.81557C>A (p.Thr27186Lys)
c.63173C>A (p.Thr21058Lys)
c.84668C>A (p.Thr28223Lys)
c.84665C>A (p.Thr28222Lys)
c.84098C>A (p.Thr28033Lys)
c.81440C>A (p.Thr27147Lys)
c.81359C>A (p.Thr27120Lys)
c.63122C>A (p.Thr21041Lys)
c.52976C>A (p.Thr17659Lys)
2g.178552674T>ACA349512744TTN,TTN-AS1c.82522A>T (p.Thr27508Ser)
c.63607A>T (p.Thr21203Ser)
c.63406A>T (p.Thr21136Ser)
c.63031A>T (p.Thr21011Ser)
c.90226A>T (p.Thr30076Ser)
c.85303A>T (p.Thr28435Ser)
n.447-18626T>A
n.2043+10313T>A
c.89323A>T (p.Thr29775Ser)
c.63217A>T (p.Thr21073Ser)
c.63076A>T (p.Thr21026Ser)
c.89119A>T (p.Thr29707Ser)
c.84517A>T (p.Thr28173Ser)
c.84514A>T (p.Thr28172Ser)
c.81556A>T (p.Thr27186Ser)
c.63172A>T (p.Thr21058Ser)
c.84667A>T (p.Thr28223Ser)
c.84664A>T (p.Thr28222Ser)
c.84097A>T (p.Thr28033Ser)
c.81439A>T (p.Thr27147Ser)
c.81358A>T (p.Thr27120Ser)
c.63121A>T (p.Thr21041Ser)
c.52975A>T (p.Thr17659Ser)
2g.178552674T>CCA349512750TTN,TTN-AS1c.82522A>G (p.Thr27508Ala)
c.63607A>G (p.Thr21203Ala)
c.63406A>G (p.Thr21136Ala)
c.63031A>G (p.Thr21011Ala)
c.90226A>G (p.Thr30076Ala)
c.85303A>G (p.Thr28435Ala)
n.447-18626T>C
n.2043+10313T>C
c.89323A>G (p.Thr29775Ala)
c.63217A>G (p.Thr21073Ala)
c.63076A>G (p.Thr21026Ala)
c.89119A>G (p.Thr29707Ala)
c.84517A>G (p.Thr28173Ala)
c.84514A>G (p.Thr28172Ala)
c.81556A>G (p.Thr27186Ala)
c.63172A>G (p.Thr21058Ala)
c.84667A>G (p.Thr28223Ala)
c.84664A>G (p.Thr28222Ala)
c.84097A>G (p.Thr28033Ala)
c.81439A>G (p.Thr27147Ala)
c.81358A>G (p.Thr27120Ala)
c.63121A>G (p.Thr21041Ala)
c.52975A>G (p.Thr17659Ala)
2g.178552674T>GCA349512755TTN,TTN-AS1c.82522A>C (p.Thr27508Pro)
c.63607A>C (p.Thr21203Pro)
c.63406A>C (p.Thr21136Pro)
c.63031A>C (p.Thr21011Pro)
c.90226A>C (p.Thr30076Pro)
c.85303A>C (p.Thr28435Pro)
n.447-18626T>G
n.2043+10313T>G
c.89323A>C (p.Thr29775Pro)
c.63217A>C (p.Thr21073Pro)
c.63076A>C (p.Thr21026Pro)
c.89119A>C (p.Thr29707Pro)
c.84517A>C (p.Thr28173Pro)
c.84514A>C (p.Thr28172Pro)
c.81556A>C (p.Thr27186Pro)
c.63172A>C (p.Thr21058Pro)
c.84667A>C (p.Thr28223Pro)
c.84664A>C (p.Thr28222Pro)
c.84097A>C (p.Thr28033Pro)
c.81439A>C (p.Thr27147Pro)
c.81358A>C (p.Thr27120Pro)
c.63121A>C (p.Thr21041Pro)
c.52975A>C (p.Thr17659Pro)
2g.178552675C>ACA349512757TTN,TTN-AS1c.82521G>T (p.Gln27507His)
c.63606G>T (p.Gln21202His)
c.63405G>T (p.Gln21135His)
c.63030G>T (p.Gln21010His)
c.90225G>T (p.Gln30075His)
c.85302G>T (p.Gln28434His)
n.447-18625C>A
n.2043+10314C>A
c.89322G>T (p.Gln29774His)
c.63216G>T (p.Gln21072His)
c.63075G>T (p.Gln21025His)
c.89118G>T (p.Gln29706His)
c.84516G>T (p.Gln28172His)
c.84513G>T (p.Gln28171His)
c.81555G>T (p.Gln27185His)
c.63171G>T (p.Gln21057His)
c.84666G>T (p.Gln28222His)
c.84663G>T (p.Gln28221His)
c.84096G>T (p.Gln28032His)
c.81438G>T (p.Gln27146His)
c.81357G>T (p.Gln27119His)
c.63120G>T (p.Gln21040His)
c.52974G>T (p.Gln17658His)
2g.178552675C>GCA349512759TTN,TTN-AS1c.82521G>C (p.Gln27507His)
c.63606G>C (p.Gln21202His)
c.63405G>C (p.Gln21135His)
c.63030G>C (p.Gln21010His)
c.90225G>C (p.Gln30075His)
c.85302G>C (p.Gln28434His)
n.447-18625C>G
n.2043+10314C>G
c.89322G>C (p.Gln29774His)
c.63216G>C (p.Gln21072His)
c.63075G>C (p.Gln21025His)
c.89118G>C (p.Gln29706His)
c.84516G>C (p.Gln28172His)
c.84513G>C (p.Gln28171His)
c.81555G>C (p.Gln27185His)
c.63171G>C (p.Gln21057His)
c.84666G>C (p.Gln28222His)
c.84663G>C (p.Gln28221His)
c.84096G>C (p.Gln28032His)
c.81438G>C (p.Gln27146His)
c.81357G>C (p.Gln27119His)
c.63120G>C (p.Gln21040His)
c.52974G>C (p.Gln17658His)
2g.178552675C>TCA430245621TTN,TTN-AS1c.82521G>A (p.Gln27507=)
c.63606G>A (p.Gln21202=)
c.63405G>A (p.Gln21135=)
c.63030G>A (p.Gln21010=)
c.90225G>A (p.Gln30075=)
c.85302G>A (p.Gln28434=)
n.447-18625C>T
n.2043+10314C>T
c.89322G>A (p.Gln29774=)
c.63216G>A (p.Gln21072=)
c.63075G>A (p.Gln21025=)
c.89118G>A (p.Gln29706=)
c.84516G>A (p.Gln28172=)
c.84513G>A (p.Gln28171=)
c.81555G>A (p.Gln27185=)
c.63171G>A (p.Gln21057=)
c.84666G>A (p.Gln28222=)
c.84663G>A (p.Gln28221=)
c.84096G>A (p.Gln28032=)
c.81438G>A (p.Gln27146=)
c.81357G>A (p.Gln27119=)
c.63120G>A (p.Gln21040=)
c.52974G>A (p.Gln17658=)
2g.178552676T>ACA349512769TTN,TTN-AS1c.82520A>T (p.Gln27507Leu)
c.63605A>T (p.Gln21202Leu)
c.63404A>T (p.Gln21135Leu)
c.63029A>T (p.Gln21010Leu)
c.90224A>T (p.Gln30075Leu)
c.85301A>T (p.Gln28434Leu)
n.447-18624T>A
n.2043+10315T>A
c.89321A>T (p.Gln29774Leu)
c.63215A>T (p.Gln21072Leu)
c.63074A>T (p.Gln21025Leu)
c.89117A>T (p.Gln29706Leu)
c.84515A>T (p.Gln28172Leu)
c.84512A>T (p.Gln28171Leu)
c.81554A>T (p.Gln27185Leu)
c.63170A>T (p.Gln21057Leu)
c.84665A>T (p.Gln28222Leu)
c.84662A>T (p.Gln28221Leu)
c.84095A>T (p.Gln28032Leu)
c.81437A>T (p.Gln27146Leu)
c.81356A>T (p.Gln27119Leu)
c.63119A>T (p.Gln21040Leu)
c.52973A>T (p.Gln17658Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.178552676T>CCA349512767TTN,TTN-AS1c.82520A>G (p.Gln27507Arg)
c.63605A>G (p.Gln21202Arg)
c.63404A>G (p.Gln21135Arg)
c.63029A>G (p.Gln21010Arg)
c.90224A>G (p.Gln30075Arg)
c.85301A>G (p.Gln28434Arg)
n.447-18624T>C
n.2043+10315T>C
c.89321A>G (p.Gln29774Arg)
c.63215A>G (p.Gln21072Arg)
c.63074A>G (p.Gln21025Arg)
c.89117A>G (p.Gln29706Arg)
c.84515A>G (p.Gln28172Arg)
c.84512A>G (p.Gln28171Arg)
c.81554A>G (p.Gln27185Arg)
c.63170A>G (p.Gln21057Arg)
c.84665A>G (p.Gln28222Arg)
c.84662A>G (p.Gln28221Arg)
c.84095A>G (p.Gln28032Arg)
c.81437A>G (p.Gln27146Arg)
c.81356A>G (p.Gln27119Arg)
c.63119A>G (p.Gln21040Arg)
c.52973A>G (p.Gln17658Arg)
2g.178552676T>GCA349512764TTN,TTN-AS1c.82520A>C (p.Gln27507Pro)
c.63605A>C (p.Gln21202Pro)
c.63404A>C (p.Gln21135Pro)
c.63029A>C (p.Gln21010Pro)
c.90224A>C (p.Gln30075Pro)
c.85301A>C (p.Gln28434Pro)
n.447-18624T>G
n.2043+10315T>G
c.89321A>C (p.Gln29774Pro)
c.63215A>C (p.Gln21072Pro)
c.63074A>C (p.Gln21025Pro)
c.89117A>C (p.Gln29706Pro)
c.84515A>C (p.Gln28172Pro)
c.84512A>C (p.Gln28171Pro)
c.81554A>C (p.Gln27185Pro)
c.63170A>C (p.Gln21057Pro)
c.84665A>C (p.Gln28222Pro)
c.84662A>C (p.Gln28221Pro)
c.84095A>C (p.Gln28032Pro)
c.81437A>C (p.Gln27146Pro)
c.81356A>C (p.Gln27119Pro)
c.63119A>C (p.Gln21040Pro)
c.52973A>C (p.Gln17658Pro)
2g.178552676T=CA1310522194TTN,TTN-AS1c.82520A= (p.Gln27507=)
c.63605A= (p.Gln21202=)
c.63404A= (p.Gln21135=)
c.63029A= (p.Gln21010=)
c.90224A= (p.Gln30075=)
c.85301A= (p.Gln28434=)
n.447-18624T=
n.2043+10315T=
c.89321A= (p.Gln29774=)
c.63215A= (p.Gln21072=)
c.63074A= (p.Gln21025=)
c.89117A= (p.Gln29706=)
c.84515A= (p.Gln28172=)
c.84512A= (p.Gln28171=)
c.81554A= (p.Gln27185=)
c.63170A= (p.Gln21057=)
c.84665A= (p.Gln28222=)
c.84662A= (p.Gln28221=)
c.84095A= (p.Gln28032=)
c.81437A= (p.Gln27146=)
c.81356A= (p.Gln27119=)
c.63119A= (p.Gln21040=)
c.52973A= (p.Gln17658=)
2g.178552677G>ACA236082TTN,TTN-AS1c.82519C>T (p.Gln27507Ter)
c.63604C>T (p.Gln21202Ter)
c.63403C>T (p.Gln21135Ter)
c.63028C>T (p.Gln21010Ter)
c.90223C>T (p.Gln30075Ter)
c.85300C>T (p.Gln28434Ter)
n.447-18623G>A
n.2043+10316G>A
c.89320C>T (p.Gln29774Ter)
c.63214C>T (p.Gln21072Ter)
c.63073C>T (p.Gln21025Ter)
c.89116C>T (p.Gln29706Ter)
c.84514C>T (p.Gln28172Ter)
c.84511C>T (p.Gln28171Ter)
c.81553C>T (p.Gln27185Ter)
c.63169C>T (p.Gln21057Ter)
c.84664C>T (p.Gln28222Ter)
c.84661C>T (p.Gln28221Ter)
c.84094C>T (p.Gln28032Ter)
c.81436C>T (p.Gln27146Ter)
c.81355C>T (p.Gln27119Ter)
c.63118C>T (p.Gln21040Ter)
c.52972C>T (p.Gln17658Ter)
 ClinVar dbSNP
2g.178552677G>CCA349512774TTN,TTN-AS1c.82519C>G (p.Gln27507Glu)
c.63604C>G (p.Gln21202Glu)
c.63403C>G (p.Gln21135Glu)
c.63028C>G (p.Gln21010Glu)
c.90223C>G (p.Gln30075Glu)
c.85300C>G (p.Gln28434Glu)
n.447-18623G>C
n.2043+10316G>C
c.89320C>G (p.Gln29774Glu)
c.63214C>G (p.Gln21072Glu)
c.63073C>G (p.Gln21025Glu)
c.89116C>G (p.Gln29706Glu)
c.84514C>G (p.Gln28172Glu)
c.84511C>G (p.Gln28171Glu)
c.81553C>G (p.Gln27185Glu)
c.63169C>G (p.Gln21057Glu)
c.84664C>G (p.Gln28222Glu)
c.84661C>G (p.Gln28221Glu)
c.84094C>G (p.Gln28032Glu)
c.81436C>G (p.Gln27146Glu)
c.81355C>G (p.Gln27119Glu)
c.63118C>G (p.Gln21040Glu)
c.52972C>G (p.Gln17658Glu)
2g.178552677G=CA1310522195TTN,TTN-AS1c.82519C= (p.Gln27507=)
c.63604C= (p.Gln21202=)
c.63403C= (p.Gln21135=)
c.63028C= (p.Gln21010=)
c.90223C= (p.Gln30075=)
c.85300C= (p.Gln28434=)
n.447-18623G=
n.2043+10316G=
c.89320C= (p.Gln29774=)
c.63214C= (p.Gln21072=)
c.63073C= (p.Gln21025=)
c.89116C= (p.Gln29706=)
c.84514C= (p.Gln28172=)
c.84511C= (p.Gln28171=)
c.81553C= (p.Gln27185=)
c.63169C= (p.Gln21057=)
c.84664C= (p.Gln28222=)
c.84661C= (p.Gln28221=)
c.84094C= (p.Gln28032=)
c.81436C= (p.Gln27146=)
c.81355C= (p.Gln27119=)
c.63118C= (p.Gln21040=)
c.52972C= (p.Gln17658=)
2g.178552677G>TCA349512783TTN,TTN-AS1c.82519C>A (p.Gln27507Lys)
c.63604C>A (p.Gln21202Lys)
c.63403C>A (p.Gln21135Lys)
c.63028C>A (p.Gln21010Lys)
c.90223C>A (p.Gln30075Lys)
c.85300C>A (p.Gln28434Lys)
n.447-18623G>T
n.2043+10316G>T
c.89320C>A (p.Gln29774Lys)
c.63214C>A (p.Gln21072Lys)
c.63073C>A (p.Gln21025Lys)
c.89116C>A (p.Gln29706Lys)
c.84514C>A (p.Gln28172Lys)
c.84511C>A (p.Gln28171Lys)
c.81553C>A (p.Gln27185Lys)
c.63169C>A (p.Gln21057Lys)
c.84664C>A (p.Gln28222Lys)
c.84661C>A (p.Gln28221Lys)
c.84094C>A (p.Gln28032Lys)
c.81436C>A (p.Gln27146Lys)
c.81355C>A (p.Gln27119Lys)
c.63118C>A (p.Gln21040Lys)
c.52972C>A (p.Gln17658Lys)

Number of alleles fetched