Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178586706C>ACA349442942TTN,TTN-AS1c.56491G>T (p.Asp18831Tyr)
c.37576G>T (p.Asp12526Tyr)
c.37375G>T (p.Asp12459Tyr)
c.37000G>T (p.Asp12334Tyr)
c.64195G>T (p.Asp21399Tyr)
c.59272G>T (p.Asp19758Tyr)
n.597-10890C>A
n.3188+1713C>A
c.63292G>T (p.Asp21098Tyr)
c.37186G>T (p.Asp12396Tyr)
c.37045G>T (p.Asp12349Tyr)
c.63088G>T (p.Asp21030Tyr)
c.58486G>T (p.Asp19496Tyr)
c.58483G>T (p.Asp19495Tyr)
c.55525G>T (p.Asp18509Tyr)
c.37141G>T (p.Asp12381Tyr)
c.58636G>T (p.Asp19546Tyr)
c.58633G>T (p.Asp19545Tyr)
c.58066G>T (p.Asp19356Tyr)
c.55408G>T (p.Asp18470Tyr)
c.55327G>T (p.Asp18443Tyr)
c.37090G>T (p.Asp12364Tyr)
c.26944G>T (p.Asp8982Tyr)
2g.178586706C=CA1310537691TTN,TTN-AS1c.56491G= (p.Asp18831=)
c.37576G= (p.Asp12526=)
c.37375G= (p.Asp12459=)
c.37000G= (p.Asp12334=)
c.64195G= (p.Asp21399=)
c.59272G= (p.Asp19758=)
n.597-10890C=
n.3188+1713C=
c.63292G= (p.Asp21098=)
c.37186G= (p.Asp12396=)
c.37045G= (p.Asp12349=)
c.63088G= (p.Asp21030=)
c.58486G= (p.Asp19496=)
c.58483G= (p.Asp19495=)
c.55525G= (p.Asp18509=)
c.37141G= (p.Asp12381=)
c.58636G= (p.Asp19546=)
c.58633G= (p.Asp19545=)
c.58066G= (p.Asp19356=)
c.55408G= (p.Asp18470=)
c.55327G= (p.Asp18443=)
c.37090G= (p.Asp12364=)
c.26944G= (p.Asp8982=)
2g.178586706C>GCA349442947TTN,TTN-AS1c.56491G>C (p.Asp18831His)
c.37576G>C (p.Asp12526His)
c.37375G>C (p.Asp12459His)
c.37000G>C (p.Asp12334His)
c.64195G>C (p.Asp21399His)
c.59272G>C (p.Asp19758His)
n.597-10890C>G
n.3188+1713C>G
c.63292G>C (p.Asp21098His)
c.37186G>C (p.Asp12396His)
c.37045G>C (p.Asp12349His)
c.63088G>C (p.Asp21030His)
c.58486G>C (p.Asp19496His)
c.58483G>C (p.Asp19495His)
c.55525G>C (p.Asp18509His)
c.37141G>C (p.Asp12381His)
c.58636G>C (p.Asp19546His)
c.58633G>C (p.Asp19545His)
c.58066G>C (p.Asp19356His)
c.55408G>C (p.Asp18470His)
c.55327G>C (p.Asp18443His)
c.37090G>C (p.Asp12364His)
c.26944G>C (p.Asp8982His)
2g.178586706C>TCA310264TTN,TTN-AS1c.56491G>A (p.Asp18831Asn)
c.37576G>A (p.Asp12526Asn)
c.37375G>A (p.Asp12459Asn)
c.37000G>A (p.Asp12334Asn)
c.64195G>A (p.Asp21399Asn)
c.59272G>A (p.Asp19758Asn)
n.597-10890C>T
n.3188+1713C>T
c.63292G>A (p.Asp21098Asn)
c.37186G>A (p.Asp12396Asn)
c.37045G>A (p.Asp12349Asn)
c.63088G>A (p.Asp21030Asn)
c.58486G>A (p.Asp19496Asn)
c.58483G>A (p.Asp19495Asn)
c.55525G>A (p.Asp18509Asn)
c.37141G>A (p.Asp12381Asn)
c.58636G>A (p.Asp19546Asn)
c.58633G>A (p.Asp19545Asn)
c.58066G>A (p.Asp19356Asn)
c.55408G>A (p.Asp18470Asn)
c.55327G>A (p.Asp18443Asn)
c.37090G>A (p.Asp12364Asn)
c.26944G>A (p.Asp8982Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178586707G>ACA1991936TTN,TTN-AS1c.56490C>T (p.Ile18830=)
c.37575C>T (p.Ile12525=)
c.37374C>T (p.Ile12458=)
c.36999C>T (p.Ile12333=)
c.64194C>T (p.Ile21398=)
c.59271C>T (p.Ile19757=)
n.597-10889G>A
n.3188+1714G>A
c.63291C>T (p.Ile21097=)
c.37185C>T (p.Ile12395=)
c.37044C>T (p.Ile12348=)
c.63087C>T (p.Ile21029=)
c.58485C>T (p.Ile19495=)
c.58482C>T (p.Ile19494=)
c.55524C>T (p.Ile18508=)
c.37140C>T (p.Ile12380=)
c.58635C>T (p.Ile19545=)
c.58632C>T (p.Ile19544=)
c.58065C>T (p.Ile19355=)
c.55407C>T (p.Ile18469=)
c.55326C>T (p.Ile18442=)
c.37089C>T (p.Ile12363=)
c.26943C>T (p.Ile8981=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178586707G>CCA349442952TTN,TTN-AS1c.56490C>G (p.Ile18830Met)
c.37575C>G (p.Ile12525Met)
c.37374C>G (p.Ile12458Met)
c.36999C>G (p.Ile12333Met)
c.64194C>G (p.Ile21398Met)
c.59271C>G (p.Ile19757Met)
n.597-10889G>C
n.3188+1714G>C
c.63291C>G (p.Ile21097Met)
c.37185C>G (p.Ile12395Met)
c.37044C>G (p.Ile12348Met)
c.63087C>G (p.Ile21029Met)
c.58485C>G (p.Ile19495Met)
c.58482C>G (p.Ile19494Met)
c.55524C>G (p.Ile18508Met)
c.37140C>G (p.Ile12380Met)
c.58635C>G (p.Ile19545Met)
c.58632C>G (p.Ile19544Met)
c.58065C>G (p.Ile19355Met)
c.55407C>G (p.Ile18469Met)
c.55326C>G (p.Ile18442Met)
c.37089C>G (p.Ile12363Met)
c.26943C>G (p.Ile8981Met)
2g.178586707G=CA1310537697TTN,TTN-AS1c.56490C= (p.Ile18830=)
c.37575C= (p.Ile12525=)
c.37374C= (p.Ile12458=)
c.36999C= (p.Ile12333=)
c.64194C= (p.Ile21398=)
c.59271C= (p.Ile19757=)
n.597-10889G=
n.3188+1714G=
c.63291C= (p.Ile21097=)
c.37185C= (p.Ile12395=)
c.37044C= (p.Ile12348=)
c.63087C= (p.Ile21029=)
c.58485C= (p.Ile19495=)
c.58482C= (p.Ile19494=)
c.55524C= (p.Ile18508=)
c.37140C= (p.Ile12380=)
c.58635C= (p.Ile19545=)
c.58632C= (p.Ile19544=)
c.58065C= (p.Ile19355=)
c.55407C= (p.Ile18469=)
c.55326C= (p.Ile18442=)
c.37089C= (p.Ile12363=)
c.26943C= (p.Ile8981=)
2g.178586707G>TCA430264363TTN,TTN-AS1c.56490C>A (p.Ile18830=)
c.37575C>A (p.Ile12525=)
c.37374C>A (p.Ile12458=)
c.36999C>A (p.Ile12333=)
c.64194C>A (p.Ile21398=)
c.59271C>A (p.Ile19757=)
n.597-10889G>T
n.3188+1714G>T
c.63291C>A (p.Ile21097=)
c.37185C>A (p.Ile12395=)
c.37044C>A (p.Ile12348=)
c.63087C>A (p.Ile21029=)
c.58485C>A (p.Ile19495=)
c.58482C>A (p.Ile19494=)
c.55524C>A (p.Ile18508=)
c.37140C>A (p.Ile12380=)
c.58635C>A (p.Ile19545=)
c.58632C>A (p.Ile19544=)
c.58065C>A (p.Ile19355=)
c.55407C>A (p.Ile18469=)
c.55326C>A (p.Ile18442=)
c.37089C>A (p.Ile12363=)
c.26943C>A (p.Ile8981=)
 gnomAD v4
2g.178586708A=CA1310537705TTN,TTN-AS1c.56489T= (p.Ile18830=)
c.37574T= (p.Ile12525=)
c.37373T= (p.Ile12458=)
c.36998T= (p.Ile12333=)
c.64193T= (p.Ile21398=)
c.59270T= (p.Ile19757=)
n.597-10888A=
n.3188+1715A=
c.63290T= (p.Ile21097=)
c.37184T= (p.Ile12395=)
c.37043T= (p.Ile12348=)
c.63086T= (p.Ile21029=)
c.58484T= (p.Ile19495=)
c.58481T= (p.Ile19494=)
c.55523T= (p.Ile18508=)
c.37139T= (p.Ile12380=)
c.58634T= (p.Ile19545=)
c.58631T= (p.Ile19544=)
c.58064T= (p.Ile19355=)
c.55406T= (p.Ile18469=)
c.55325T= (p.Ile18442=)
c.37088T= (p.Ile12363=)
c.26942T= (p.Ile8981=)
2g.178586708A>CCA184091TTN,TTN-AS1c.56489T>G (p.Ile18830Ser)
c.37574T>G (p.Ile12525Ser)
c.37373T>G (p.Ile12458Ser)
c.36998T>G (p.Ile12333Ser)
c.64193T>G (p.Ile21398Ser)
c.59270T>G (p.Ile19757Ser)
n.597-10888A>C
n.3188+1715A>C
c.63290T>G (p.Ile21097Ser)
c.37184T>G (p.Ile12395Ser)
c.37043T>G (p.Ile12348Ser)
c.63086T>G (p.Ile21029Ser)
c.58484T>G (p.Ile19495Ser)
c.58481T>G (p.Ile19494Ser)
c.55523T>G (p.Ile18508Ser)
c.37139T>G (p.Ile12380Ser)
c.58634T>G (p.Ile19545Ser)
c.58631T>G (p.Ile19544Ser)
c.58064T>G (p.Ile19355Ser)
c.55406T>G (p.Ile18469Ser)
c.55325T>G (p.Ile18442Ser)
c.37088T>G (p.Ile12363Ser)
c.26942T>G (p.Ile8981Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178586708A>GCA349442955TTN,TTN-AS1c.56489T>C (p.Ile18830Thr)
c.37574T>C (p.Ile12525Thr)
c.37373T>C (p.Ile12458Thr)
c.36998T>C (p.Ile12333Thr)
c.64193T>C (p.Ile21398Thr)
c.59270T>C (p.Ile19757Thr)
n.597-10888A>G
n.3188+1715A>G
c.63290T>C (p.Ile21097Thr)
c.37184T>C (p.Ile12395Thr)
c.37043T>C (p.Ile12348Thr)
c.63086T>C (p.Ile21029Thr)
c.58484T>C (p.Ile19495Thr)
c.58481T>C (p.Ile19494Thr)
c.55523T>C (p.Ile18508Thr)
c.37139T>C (p.Ile12380Thr)
c.58634T>C (p.Ile19545Thr)
c.58631T>C (p.Ile19544Thr)
c.58064T>C (p.Ile19355Thr)
c.55406T>C (p.Ile18469Thr)
c.55325T>C (p.Ile18442Thr)
c.37088T>C (p.Ile12363Thr)
c.26942T>C (p.Ile8981Thr)
 COSMIC COSMIC COSMIC COSMIC
2g.178586708A>TCA349442953TTN,TTN-AS1c.56489T>A (p.Ile18830Asn)
c.37574T>A (p.Ile12525Asn)
c.37373T>A (p.Ile12458Asn)
c.36998T>A (p.Ile12333Asn)
c.64193T>A (p.Ile21398Asn)
c.59270T>A (p.Ile19757Asn)
n.597-10888A>T
n.3188+1715A>T
c.63290T>A (p.Ile21097Asn)
c.37184T>A (p.Ile12395Asn)
c.37043T>A (p.Ile12348Asn)
c.63086T>A (p.Ile21029Asn)
c.58484T>A (p.Ile19495Asn)
c.58481T>A (p.Ile19494Asn)
c.55523T>A (p.Ile18508Asn)
c.37139T>A (p.Ile12380Asn)
c.58634T>A (p.Ile19545Asn)
c.58631T>A (p.Ile19544Asn)
c.58064T>A (p.Ile19355Asn)
c.55406T>A (p.Ile18469Asn)
c.55325T>A (p.Ile18442Asn)
c.37088T>A (p.Ile12363Asn)
c.26942T>A (p.Ile8981Asn)
2g.178586709T>ACA349442959TTN,TTN-AS1c.56488A>T (p.Ile18830Phe)
c.37573A>T (p.Ile12525Phe)
c.37372A>T (p.Ile12458Phe)
c.36997A>T (p.Ile12333Phe)
c.64192A>T (p.Ile21398Phe)
c.59269A>T (p.Ile19757Phe)
n.597-10887T>A
n.3188+1716T>A
c.63289A>T (p.Ile21097Phe)
c.37183A>T (p.Ile12395Phe)
c.37042A>T (p.Ile12348Phe)
c.63085A>T (p.Ile21029Phe)
c.58483A>T (p.Ile19495Phe)
c.58480A>T (p.Ile19494Phe)
c.55522A>T (p.Ile18508Phe)
c.37138A>T (p.Ile12380Phe)
c.58633A>T (p.Ile19545Phe)
c.58630A>T (p.Ile19544Phe)
c.58063A>T (p.Ile19355Phe)
c.55405A>T (p.Ile18469Phe)
c.55324A>T (p.Ile18442Phe)
c.37087A>T (p.Ile12363Phe)
c.26941A>T (p.Ile8981Phe)
2g.178586709T>CCA349442988TTN,TTN-AS1c.56488A>G (p.Ile18830Val)
c.37573A>G (p.Ile12525Val)
c.37372A>G (p.Ile12458Val)
c.36997A>G (p.Ile12333Val)
c.64192A>G (p.Ile21398Val)
c.59269A>G (p.Ile19757Val)
n.597-10887T>C
n.3188+1716T>C
c.63289A>G (p.Ile21097Val)
c.37183A>G (p.Ile12395Val)
c.37042A>G (p.Ile12348Val)
c.63085A>G (p.Ile21029Val)
c.58483A>G (p.Ile19495Val)
c.58480A>G (p.Ile19494Val)
c.55522A>G (p.Ile18508Val)
c.37138A>G (p.Ile12380Val)
c.58633A>G (p.Ile19545Val)
c.58630A>G (p.Ile19544Val)
c.58063A>G (p.Ile19355Val)
c.55405A>G (p.Ile18469Val)
c.55324A>G (p.Ile18442Val)
c.37087A>G (p.Ile12363Val)
c.26941A>G (p.Ile8981Val)
2g.178586709T>GCA349442974TTN,TTN-AS1c.56488A>C (p.Ile18830Leu)
c.37573A>C (p.Ile12525Leu)
c.37372A>C (p.Ile12458Leu)
c.36997A>C (p.Ile12333Leu)
c.64192A>C (p.Ile21398Leu)
c.59269A>C (p.Ile19757Leu)
n.597-10887T>G
n.3188+1716T>G
c.63289A>C (p.Ile21097Leu)
c.37183A>C (p.Ile12395Leu)
c.37042A>C (p.Ile12348Leu)
c.63085A>C (p.Ile21029Leu)
c.58483A>C (p.Ile19495Leu)
c.58480A>C (p.Ile19494Leu)
c.55522A>C (p.Ile18508Leu)
c.37138A>C (p.Ile12380Leu)
c.58633A>C (p.Ile19545Leu)
c.58630A>C (p.Ile19544Leu)
c.58063A>C (p.Ile19355Leu)
c.55405A>C (p.Ile18469Leu)
c.55324A>C (p.Ile18442Leu)
c.37087A>C (p.Ile12363Leu)
c.26941A>C (p.Ile8981Leu)
2g.178586710T>ACA349442990TTN,TTN-AS1c.56487A>T (p.Lys18829Asn)
c.37572A>T (p.Lys12524Asn)
c.37371A>T (p.Lys12457Asn)
c.36996A>T (p.Lys12332Asn)
c.64191A>T (p.Lys21397Asn)
c.59268A>T (p.Lys19756Asn)
n.597-10886T>A
n.3188+1717T>A
c.63288A>T (p.Lys21096Asn)
c.37182A>T (p.Lys12394Asn)
c.37041A>T (p.Lys12347Asn)
c.63084A>T (p.Lys21028Asn)
c.58482A>T (p.Lys19494Asn)
c.58479A>T (p.Lys19493Asn)
c.55521A>T (p.Lys18507Asn)
c.37137A>T (p.Lys12379Asn)
c.58632A>T (p.Lys19544Asn)
c.58629A>T (p.Lys19543Asn)
c.58062A>T (p.Lys19354Asn)
c.55404A>T (p.Lys18468Asn)
c.55323A>T (p.Lys18441Asn)
c.37086A>T (p.Lys12362Asn)
c.26940A>T (p.Lys8980Asn)
2g.178586710T>CCA430264365TTN,TTN-AS1c.56487A>G (p.Lys18829=)
c.37572A>G (p.Lys12524=)
c.37371A>G (p.Lys12457=)
c.36996A>G (p.Lys12332=)
c.64191A>G (p.Lys21397=)
c.59268A>G (p.Lys19756=)
n.597-10886T>C
n.3188+1717T>C
c.63288A>G (p.Lys21096=)
c.37182A>G (p.Lys12394=)
c.37041A>G (p.Lys12347=)
c.63084A>G (p.Lys21028=)
c.58482A>G (p.Lys19494=)
c.58479A>G (p.Lys19493=)
c.55521A>G (p.Lys18507=)
c.37137A>G (p.Lys12379=)
c.58632A>G (p.Lys19544=)
c.58629A>G (p.Lys19543=)
c.58062A>G (p.Lys19354=)
c.55404A>G (p.Lys18468=)
c.55323A>G (p.Lys18441=)
c.37086A>G (p.Lys12362=)
c.26940A>G (p.Lys8980=)
2g.178586710T>GCA349442993TTN,TTN-AS1c.56487A>C (p.Lys18829Asn)
c.37572A>C (p.Lys12524Asn)
c.37371A>C (p.Lys12457Asn)
c.36996A>C (p.Lys12332Asn)
c.64191A>C (p.Lys21397Asn)
c.59268A>C (p.Lys19756Asn)
n.597-10886T>G
n.3188+1717T>G
c.63288A>C (p.Lys21096Asn)
c.37182A>C (p.Lys12394Asn)
c.37041A>C (p.Lys12347Asn)
c.63084A>C (p.Lys21028Asn)
c.58482A>C (p.Lys19494Asn)
c.58479A>C (p.Lys19493Asn)
c.55521A>C (p.Lys18507Asn)
c.37137A>C (p.Lys12379Asn)
c.58632A>C (p.Lys19544Asn)
c.58629A>C (p.Lys19543Asn)
c.58062A>C (p.Lys19354Asn)
c.55404A>C (p.Lys18468Asn)
c.55323A>C (p.Lys18441Asn)
c.37086A>C (p.Lys12362Asn)
c.26940A>C (p.Lys8980Asn)
2g.178586711T>ACA349442995TTN,TTN-AS1c.56486A>T (p.Lys18829Ile)
c.37571A>T (p.Lys12524Ile)
c.37370A>T (p.Lys12457Ile)
c.36995A>T (p.Lys12332Ile)
c.64190A>T (p.Lys21397Ile)
c.59267A>T (p.Lys19756Ile)
n.597-10885T>A
n.3188+1718T>A
c.63287A>T (p.Lys21096Ile)
c.37181A>T (p.Lys12394Ile)
c.37040A>T (p.Lys12347Ile)
c.63083A>T (p.Lys21028Ile)
c.58481A>T (p.Lys19494Ile)
c.58478A>T (p.Lys19493Ile)
c.55520A>T (p.Lys18507Ile)
c.37136A>T (p.Lys12379Ile)
c.58631A>T (p.Lys19544Ile)
c.58628A>T (p.Lys19543Ile)
c.58061A>T (p.Lys19354Ile)
c.55403A>T (p.Lys18468Ile)
c.55322A>T (p.Lys18441Ile)
c.37085A>T (p.Lys12362Ile)
c.26939A>T (p.Lys8980Ile)
2g.178586711T>CCA349442999TTN,TTN-AS1c.56486A>G (p.Lys18829Arg)
c.37571A>G (p.Lys12524Arg)
c.37370A>G (p.Lys12457Arg)
c.36995A>G (p.Lys12332Arg)
c.64190A>G (p.Lys21397Arg)
c.59267A>G (p.Lys19756Arg)
n.597-10885T>C
n.3188+1718T>C
c.63287A>G (p.Lys21096Arg)
c.37181A>G (p.Lys12394Arg)
c.37040A>G (p.Lys12347Arg)
c.63083A>G (p.Lys21028Arg)
c.58481A>G (p.Lys19494Arg)
c.58478A>G (p.Lys19493Arg)
c.55520A>G (p.Lys18507Arg)
c.37136A>G (p.Lys12379Arg)
c.58631A>G (p.Lys19544Arg)
c.58628A>G (p.Lys19543Arg)
c.58061A>G (p.Lys19354Arg)
c.55403A>G (p.Lys18468Arg)
c.55322A>G (p.Lys18441Arg)
c.37085A>G (p.Lys12362Arg)
c.26939A>G (p.Lys8980Arg)
2g.178586711T>GCA349443008TTN,TTN-AS1c.56486A>C (p.Lys18829Thr)
c.37571A>C (p.Lys12524Thr)
c.37370A>C (p.Lys12457Thr)
c.36995A>C (p.Lys12332Thr)
c.64190A>C (p.Lys21397Thr)
c.59267A>C (p.Lys19756Thr)
n.597-10885T>G
n.3188+1718T>G
c.63287A>C (p.Lys21096Thr)
c.37181A>C (p.Lys12394Thr)
c.37040A>C (p.Lys12347Thr)
c.63083A>C (p.Lys21028Thr)
c.58481A>C (p.Lys19494Thr)
c.58478A>C (p.Lys19493Thr)
c.55520A>C (p.Lys18507Thr)
c.37136A>C (p.Lys12379Thr)
c.58631A>C (p.Lys19544Thr)
c.58628A>C (p.Lys19543Thr)
c.58061A>C (p.Lys19354Thr)
c.55403A>C (p.Lys18468Thr)
c.55322A>C (p.Lys18441Thr)
c.37085A>C (p.Lys12362Thr)
c.26939A>C (p.Lys8980Thr)
2g.178586712T>ACA349443013TTN,TTN-AS1c.56485A>T (p.Lys18829Ter)
c.37570A>T (p.Lys12524Ter)
c.37369A>T (p.Lys12457Ter)
c.36994A>T (p.Lys12332Ter)
c.64189A>T (p.Lys21397Ter)
c.59266A>T (p.Lys19756Ter)
n.597-10884T>A
n.3188+1719T>A
c.63286A>T (p.Lys21096Ter)
c.37180A>T (p.Lys12394Ter)
c.37039A>T (p.Lys12347Ter)
c.63082A>T (p.Lys21028Ter)
c.58480A>T (p.Lys19494Ter)
c.58477A>T (p.Lys19493Ter)
c.55519A>T (p.Lys18507Ter)
c.37135A>T (p.Lys12379Ter)
c.58630A>T (p.Lys19544Ter)
c.58627A>T (p.Lys19543Ter)
c.58060A>T (p.Lys19354Ter)
c.55402A>T (p.Lys18468Ter)
c.55321A>T (p.Lys18441Ter)
c.37084A>T (p.Lys12362Ter)
c.26938A>T (p.Lys8980Ter)
2g.178586712T>CCA349443019TTN,TTN-AS1c.56485A>G (p.Lys18829Glu)
c.37570A>G (p.Lys12524Glu)
c.37369A>G (p.Lys12457Glu)
c.36994A>G (p.Lys12332Glu)
c.64189A>G (p.Lys21397Glu)
c.59266A>G (p.Lys19756Glu)
n.597-10884T>C
n.3188+1719T>C
c.63286A>G (p.Lys21096Glu)
c.37180A>G (p.Lys12394Glu)
c.37039A>G (p.Lys12347Glu)
c.63082A>G (p.Lys21028Glu)
c.58480A>G (p.Lys19494Glu)
c.58477A>G (p.Lys19493Glu)
c.55519A>G (p.Lys18507Glu)
c.37135A>G (p.Lys12379Glu)
c.58630A>G (p.Lys19544Glu)
c.58627A>G (p.Lys19543Glu)
c.58060A>G (p.Lys19354Glu)
c.55402A>G (p.Lys18468Glu)
c.55321A>G (p.Lys18441Glu)
c.37084A>G (p.Lys12362Glu)
c.26938A>G (p.Lys8980Glu)
2g.178586712T>GCA349443024TTN,TTN-AS1c.56485A>C (p.Lys18829Gln)
c.37570A>C (p.Lys12524Gln)
c.37369A>C (p.Lys12457Gln)
c.36994A>C (p.Lys12332Gln)
c.64189A>C (p.Lys21397Gln)
c.59266A>C (p.Lys19756Gln)
n.597-10884T>G
n.3188+1719T>G
c.63286A>C (p.Lys21096Gln)
c.37180A>C (p.Lys12394Gln)
c.37039A>C (p.Lys12347Gln)
c.63082A>C (p.Lys21028Gln)
c.58480A>C (p.Lys19494Gln)
c.58477A>C (p.Lys19493Gln)
c.55519A>C (p.Lys18507Gln)
c.37135A>C (p.Lys12379Gln)
c.58630A>C (p.Lys19544Gln)
c.58627A>C (p.Lys19543Gln)
c.58060A>C (p.Lys19354Gln)
c.55402A>C (p.Lys18468Gln)
c.55321A>C (p.Lys18441Gln)
c.37084A>C (p.Lys12362Gln)
c.26938A>C (p.Lys8980Gln)
2g.178586713A>CCA430264371TTN,TTN-AS1c.56484T>G (p.Ala18828=)
c.37569T>G (p.Ala12523=)
c.37368T>G (p.Ala12456=)
c.36993T>G (p.Ala12331=)
c.64188T>G (p.Ala21396=)
c.59265T>G (p.Ala19755=)
n.597-10883A>C
n.3188+1720A>C
c.63285T>G (p.Ala21095=)
c.37179T>G (p.Ala12393=)
c.37038T>G (p.Ala12346=)
c.63081T>G (p.Ala21027=)
c.58479T>G (p.Ala19493=)
c.58476T>G (p.Ala19492=)
c.55518T>G (p.Ala18506=)
c.37134T>G (p.Ala12378=)
c.58629T>G (p.Ala19543=)
c.58626T>G (p.Ala19542=)
c.58059T>G (p.Ala19353=)
c.55401T>G (p.Ala18467=)
c.55320T>G (p.Ala18440=)
c.37083T>G (p.Ala12361=)
c.26937T>G (p.Ala8979=)
2g.178586713A>GCA430264372TTN,TTN-AS1c.56484T>C (p.Ala18828=)
c.37569T>C (p.Ala12523=)
c.37368T>C (p.Ala12456=)
c.36993T>C (p.Ala12331=)
c.64188T>C (p.Ala21396=)
c.59265T>C (p.Ala19755=)
n.597-10883A>G
n.3188+1720A>G
c.63285T>C (p.Ala21095=)
c.37179T>C (p.Ala12393=)
c.37038T>C (p.Ala12346=)
c.63081T>C (p.Ala21027=)
c.58479T>C (p.Ala19493=)
c.58476T>C (p.Ala19492=)
c.55518T>C (p.Ala18506=)
c.37134T>C (p.Ala12378=)
c.58629T>C (p.Ala19543=)
c.58626T>C (p.Ala19542=)
c.58059T>C (p.Ala19353=)
c.55401T>C (p.Ala18467=)
c.55320T>C (p.Ala18440=)
c.37083T>C (p.Ala12361=)
c.26937T>C (p.Ala8979=)
2g.178586713A>TCA430264373TTN,TTN-AS1c.56484T>A (p.Ala18828=)
c.37569T>A (p.Ala12523=)
c.37368T>A (p.Ala12456=)
c.36993T>A (p.Ala12331=)
c.64188T>A (p.Ala21396=)
c.59265T>A (p.Ala19755=)
n.597-10883A>T
n.3188+1720A>T
c.63285T>A (p.Ala21095=)
c.37179T>A (p.Ala12393=)
c.37038T>A (p.Ala12346=)
c.63081T>A (p.Ala21027=)
c.58479T>A (p.Ala19493=)
c.58476T>A (p.Ala19492=)
c.55518T>A (p.Ala18506=)
c.37134T>A (p.Ala12378=)
c.58629T>A (p.Ala19543=)
c.58626T>A (p.Ala19542=)
c.58059T>A (p.Ala19353=)
c.55401T>A (p.Ala18467=)
c.55320T>A (p.Ala18440=)
c.37083T>A (p.Ala12361=)
c.26937T>A (p.Ala8979=)
2g.178586714G>ACA1991937TTN,TTN-AS1c.56483C>T (p.Ala18828Val)
c.37568C>T (p.Ala12523Val)
c.37367C>T (p.Ala12456Val)
c.36992C>T (p.Ala12331Val)
c.64187C>T (p.Ala21396Val)
c.59264C>T (p.Ala19755Val)
n.597-10882G>A
n.3188+1721G>A
c.63284C>T (p.Ala21095Val)
c.37178C>T (p.Ala12393Val)
c.37037C>T (p.Ala12346Val)
c.63080C>T (p.Ala21027Val)
c.58478C>T (p.Ala19493Val)
c.58475C>T (p.Ala19492Val)
c.55517C>T (p.Ala18506Val)
c.37133C>T (p.Ala12378Val)
c.58628C>T (p.Ala19543Val)
c.58625C>T (p.Ala19542Val)
c.58058C>T (p.Ala19353Val)
c.55400C>T (p.Ala18467Val)
c.55319C>T (p.Ala18440Val)
c.37082C>T (p.Ala12361Val)
c.26936C>T (p.Ala8979Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178586714G>CCA349443026TTN,TTN-AS1c.56483C>G (p.Ala18828Gly)
c.37568C>G (p.Ala12523Gly)
c.37367C>G (p.Ala12456Gly)
c.36992C>G (p.Ala12331Gly)
c.64187C>G (p.Ala21396Gly)
c.59264C>G (p.Ala19755Gly)
n.597-10882G>C
n.3188+1721G>C
c.63284C>G (p.Ala21095Gly)
c.37178C>G (p.Ala12393Gly)
c.37037C>G (p.Ala12346Gly)
c.63080C>G (p.Ala21027Gly)
c.58478C>G (p.Ala19493Gly)
c.58475C>G (p.Ala19492Gly)
c.55517C>G (p.Ala18506Gly)
c.37133C>G (p.Ala12378Gly)
c.58628C>G (p.Ala19543Gly)
c.58625C>G (p.Ala19542Gly)
c.58058C>G (p.Ala19353Gly)
c.55400C>G (p.Ala18467Gly)
c.55319C>G (p.Ala18440Gly)
c.37082C>G (p.Ala12361Gly)
c.26936C>G (p.Ala8979Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178586714G=CA1310537708TTN,TTN-AS1c.56483C= (p.Ala18828=)
c.37568C= (p.Ala12523=)
c.37367C= (p.Ala12456=)
c.36992C= (p.Ala12331=)
c.64187C= (p.Ala21396=)
c.59264C= (p.Ala19755=)
n.597-10882G=
n.3188+1721G=
c.63284C= (p.Ala21095=)
c.37178C= (p.Ala12393=)
c.37037C= (p.Ala12346=)
c.63080C= (p.Ala21027=)
c.58478C= (p.Ala19493=)
c.58475C= (p.Ala19492=)
c.55517C= (p.Ala18506=)
c.37133C= (p.Ala12378=)
c.58628C= (p.Ala19543=)
c.58625C= (p.Ala19542=)
c.58058C= (p.Ala19353=)
c.55400C= (p.Ala18467=)
c.55319C= (p.Ala18440=)
c.37082C= (p.Ala12361=)
c.26936C= (p.Ala8979=)
2g.178586714G>TCA349443027TTN,TTN-AS1c.56483C>A (p.Ala18828Asp)
c.37568C>A (p.Ala12523Asp)
c.37367C>A (p.Ala12456Asp)
c.36992C>A (p.Ala12331Asp)
c.64187C>A (p.Ala21396Asp)
c.59264C>A (p.Ala19755Asp)
n.597-10882G>T
n.3188+1721G>T
c.63284C>A (p.Ala21095Asp)
c.37178C>A (p.Ala12393Asp)
c.37037C>A (p.Ala12346Asp)
c.63080C>A (p.Ala21027Asp)
c.58478C>A (p.Ala19493Asp)
c.58475C>A (p.Ala19492Asp)
c.55517C>A (p.Ala18506Asp)
c.37133C>A (p.Ala12378Asp)
c.58628C>A (p.Ala19543Asp)
c.58625C>A (p.Ala19542Asp)
c.58058C>A (p.Ala19353Asp)
c.55400C>A (p.Ala18467Asp)
c.55319C>A (p.Ala18440Asp)
c.37082C>A (p.Ala12361Asp)
c.26936C>A (p.Ala8979Asp)
 gnomAD v4
2g.178586715C>ACA349443030TTN,TTN-AS1c.56482G>T (p.Ala18828Ser)
c.37567G>T (p.Ala12523Ser)
c.37366G>T (p.Ala12456Ser)
c.36991G>T (p.Ala12331Ser)
c.64186G>T (p.Ala21396Ser)
c.59263G>T (p.Ala19755Ser)
n.597-10881C>A
n.3188+1722C>A
c.63283G>T (p.Ala21095Ser)
c.37177G>T (p.Ala12393Ser)
c.37036G>T (p.Ala12346Ser)
c.63079G>T (p.Ala21027Ser)
c.58477G>T (p.Ala19493Ser)
c.58474G>T (p.Ala19492Ser)
c.55516G>T (p.Ala18506Ser)
c.37132G>T (p.Ala12378Ser)
c.58627G>T (p.Ala19543Ser)
c.58624G>T (p.Ala19542Ser)
c.58057G>T (p.Ala19353Ser)
c.55399G>T (p.Ala18467Ser)
c.55318G>T (p.Ala18440Ser)
c.37081G>T (p.Ala12361Ser)
c.26935G>T (p.Ala8979Ser)
2g.178586715C>GCA349443040TTN,TTN-AS1c.56482G>C (p.Ala18828Pro)
c.37567G>C (p.Ala12523Pro)
c.37366G>C (p.Ala12456Pro)
c.36991G>C (p.Ala12331Pro)
c.64186G>C (p.Ala21396Pro)
c.59263G>C (p.Ala19755Pro)
n.597-10881C>G
n.3188+1722C>G
c.63283G>C (p.Ala21095Pro)
c.37177G>C (p.Ala12393Pro)
c.37036G>C (p.Ala12346Pro)
c.63079G>C (p.Ala21027Pro)
c.58477G>C (p.Ala19493Pro)
c.58474G>C (p.Ala19492Pro)
c.55516G>C (p.Ala18506Pro)
c.37132G>C (p.Ala12378Pro)
c.58627G>C (p.Ala19543Pro)
c.58624G>C (p.Ala19542Pro)
c.58057G>C (p.Ala19353Pro)
c.55399G>C (p.Ala18467Pro)
c.55318G>C (p.Ala18440Pro)
c.37081G>C (p.Ala12361Pro)
c.26935G>C (p.Ala8979Pro)
2g.178586715C>TCA349443043TTN,TTN-AS1c.56482G>A (p.Ala18828Thr)
c.37567G>A (p.Ala12523Thr)
c.37366G>A (p.Ala12456Thr)
c.36991G>A (p.Ala12331Thr)
c.64186G>A (p.Ala21396Thr)
c.59263G>A (p.Ala19755Thr)
n.597-10881C>T
n.3188+1722C>T
c.63283G>A (p.Ala21095Thr)
c.37177G>A (p.Ala12393Thr)
c.37036G>A (p.Ala12346Thr)
c.63079G>A (p.Ala21027Thr)
c.58477G>A (p.Ala19493Thr)
c.58474G>A (p.Ala19492Thr)
c.55516G>A (p.Ala18506Thr)
c.37132G>A (p.Ala12378Thr)
c.58627G>A (p.Ala19543Thr)
c.58624G>A (p.Ala19542Thr)
c.58057G>A (p.Ala19353Thr)
c.55399G>A (p.Ala18467Thr)
c.55318G>A (p.Ala18440Thr)
c.37081G>A (p.Ala12361Thr)
c.26935G>A (p.Ala8979Thr)
2g.178586716delCA2586965276TTN,TTN-AS1c.56481del (p.Ala18828LeufsTer26)
c.37566del (p.Ala12523LeufsTer26)
c.37365del (p.Ala12456LeufsTer26)
c.36990del (p.Ala12331LeufsTer26)
c.64185del (p.Ala21396LeufsTer26)
c.59262del (p.Ala19755LeufsTer26)
n.597-10880del
n.3188+1723del
c.63282del (p.Ala21095LeufsTer26)
c.37176del (p.Ala12393LeufsTer26)
c.37035del (p.Ala12346LeufsTer26)
c.63078del (p.Ala21027LeufsTer26)
c.58476del (p.Ala19493LeufsTer26)
c.58473del (p.Ala19492LeufsTer26)
c.55515del (p.Ala18506LeufsTer26)
c.37131del (p.Ala12378LeufsTer26)
c.58626del (p.Ala19543LeufsTer26)
c.58623del (p.Ala19542LeufsTer26)
c.58056del (p.Ala19353LeufsTer26)
c.55398del (p.Ala18467LeufsTer26)
c.55317del (p.Ala18440LeufsTer26)
c.37080del (p.Ala12361LeufsTer26)
c.26934del (p.Ala8979LeufsTer26)
 ClinVar
2g.178586716A=CA1310537710TTN,TTN-AS1c.56481T= (p.Gly18827=)
c.37566T= (p.Gly12522=)
c.37365T= (p.Gly12455=)
c.36990T= (p.Gly12330=)
c.64185T= (p.Gly21395=)
c.59262T= (p.Gly19754=)
n.597-10880A=
n.3188+1723A=
c.63282T= (p.Gly21094=)
c.37176T= (p.Gly12392=)
c.37035T= (p.Gly12345=)
c.63078T= (p.Gly21026=)
c.58476T= (p.Gly19492=)
c.58473T= (p.Gly19491=)
c.55515T= (p.Gly18505=)
c.37131T= (p.Gly12377=)
c.58626T= (p.Gly19542=)
c.58623T= (p.Gly19541=)
c.58056T= (p.Gly19352=)
c.55398T= (p.Gly18466=)
c.55317T= (p.Gly18439=)
c.37080T= (p.Gly12360=)
c.26934T= (p.Gly8978=)
2g.178586716A>CCA60963383TTN,TTN-AS1c.56481T>G (p.Gly18827=)
c.37566T>G (p.Gly12522=)
c.37365T>G (p.Gly12455=)
c.36990T>G (p.Gly12330=)
c.64185T>G (p.Gly21395=)
c.59262T>G (p.Gly19754=)
n.597-10880A>C
n.3188+1723A>C
c.63282T>G (p.Gly21094=)
c.37176T>G (p.Gly12392=)
c.37035T>G (p.Gly12345=)
c.63078T>G (p.Gly21026=)
c.58476T>G (p.Gly19492=)
c.58473T>G (p.Gly19491=)
c.55515T>G (p.Gly18505=)
c.37131T>G (p.Gly12377=)
c.58626T>G (p.Gly19542=)
c.58623T>G (p.Gly19541=)
c.58056T>G (p.Gly19352=)
c.55398T>G (p.Gly18466=)
c.55317T>G (p.Gly18439=)
c.37080T>G (p.Gly12360=)
c.26934T>G (p.Gly8978=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178586716A>GCA430264377TTN,TTN-AS1c.56481T>C (p.Gly18827=)
c.37566T>C (p.Gly12522=)
c.37365T>C (p.Gly12455=)
c.36990T>C (p.Gly12330=)
c.64185T>C (p.Gly21395=)
c.59262T>C (p.Gly19754=)
n.597-10880A>G
n.3188+1723A>G
c.63282T>C (p.Gly21094=)
c.37176T>C (p.Gly12392=)
c.37035T>C (p.Gly12345=)
c.63078T>C (p.Gly21026=)
c.58476T>C (p.Gly19492=)
c.58473T>C (p.Gly19491=)
c.55515T>C (p.Gly18505=)
c.37131T>C (p.Gly12377=)
c.58626T>C (p.Gly19542=)
c.58623T>C (p.Gly19541=)
c.58056T>C (p.Gly19352=)
c.55398T>C (p.Gly18466=)
c.55317T>C (p.Gly18439=)
c.37080T>C (p.Gly12360=)
c.26934T>C (p.Gly8978=)
 ClinVar
2g.178586716A>TCA430264378TTN,TTN-AS1c.56481T>A (p.Gly18827=)
c.37566T>A (p.Gly12522=)
c.37365T>A (p.Gly12455=)
c.36990T>A (p.Gly12330=)
c.64185T>A (p.Gly21395=)
c.59262T>A (p.Gly19754=)
n.597-10880A>T
n.3188+1723A>T
c.63282T>A (p.Gly21094=)
c.37176T>A (p.Gly12392=)
c.37035T>A (p.Gly12345=)
c.63078T>A (p.Gly21026=)
c.58476T>A (p.Gly19492=)
c.58473T>A (p.Gly19491=)
c.55515T>A (p.Gly18505=)
c.37131T>A (p.Gly12377=)
c.58626T>A (p.Gly19542=)
c.58623T>A (p.Gly19541=)
c.58056T>A (p.Gly19352=)
c.55398T>A (p.Gly18466=)
c.55317T>A (p.Gly18439=)
c.37080T>A (p.Gly12360=)
c.26934T>A (p.Gly8978=)
2g.178586717C>ACA349443068TTN,TTN-AS1c.56480G>T (p.Gly18827Val)
c.37565G>T (p.Gly12522Val)
c.37364G>T (p.Gly12455Val)
c.36989G>T (p.Gly12330Val)
c.64184G>T (p.Gly21395Val)
c.59261G>T (p.Gly19754Val)
n.597-10879C>A
n.3188+1724C>A
c.63281G>T (p.Gly21094Val)
c.37175G>T (p.Gly12392Val)
c.37034G>T (p.Gly12345Val)
c.63077G>T (p.Gly21026Val)
c.58475G>T (p.Gly19492Val)
c.58472G>T (p.Gly19491Val)
c.55514G>T (p.Gly18505Val)
c.37130G>T (p.Gly12377Val)
c.58625G>T (p.Gly19542Val)
c.58622G>T (p.Gly19541Val)
c.58055G>T (p.Gly19352Val)
c.55397G>T (p.Gly18466Val)
c.55316G>T (p.Gly18439Val)
c.37079G>T (p.Gly12360Val)
c.26933G>T (p.Gly8978Val)
 dbSNP gnomAD v4
2g.178586717C=CA1310537713TTN,TTN-AS1c.56480G= (p.Gly18827=)
c.37565G= (p.Gly12522=)
c.37364G= (p.Gly12455=)
c.36989G= (p.Gly12330=)
c.64184G= (p.Gly21395=)
c.59261G= (p.Gly19754=)
n.597-10879C=
n.3188+1724C=
c.63281G= (p.Gly21094=)
c.37175G= (p.Gly12392=)
c.37034G= (p.Gly12345=)
c.63077G= (p.Gly21026=)
c.58475G= (p.Gly19492=)
c.58472G= (p.Gly19491=)
c.55514G= (p.Gly18505=)
c.37130G= (p.Gly12377=)
c.58625G= (p.Gly19542=)
c.58622G= (p.Gly19541=)
c.58055G= (p.Gly19352=)
c.55397G= (p.Gly18466=)
c.55316G= (p.Gly18439=)
c.37079G= (p.Gly12360=)
c.26933G= (p.Gly8978=)
2g.178586717C>GCA1991938TTN,TTN-AS1c.56480G>C (p.Gly18827Ala)
c.37565G>C (p.Gly12522Ala)
c.37364G>C (p.Gly12455Ala)
c.36989G>C (p.Gly12330Ala)
c.64184G>C (p.Gly21395Ala)
c.59261G>C (p.Gly19754Ala)
n.597-10879C>G
n.3188+1724C>G
c.63281G>C (p.Gly21094Ala)
c.37175G>C (p.Gly12392Ala)
c.37034G>C (p.Gly12345Ala)
c.63077G>C (p.Gly21026Ala)
c.58475G>C (p.Gly19492Ala)
c.58472G>C (p.Gly19491Ala)
c.55514G>C (p.Gly18505Ala)
c.37130G>C (p.Gly12377Ala)
c.58625G>C (p.Gly19542Ala)
c.58622G>C (p.Gly19541Ala)
c.58055G>C (p.Gly19352Ala)
c.55397G>C (p.Gly18466Ala)
c.55316G>C (p.Gly18439Ala)
c.37079G>C (p.Gly12360Ala)
c.26933G>C (p.Gly8978Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178586717C>TCA60963390TTN,TTN-AS1c.56480G>A (p.Gly18827Asp)
c.37565G>A (p.Gly12522Asp)
c.37364G>A (p.Gly12455Asp)
c.36989G>A (p.Gly12330Asp)
c.64184G>A (p.Gly21395Asp)
c.59261G>A (p.Gly19754Asp)
n.597-10879C>T
n.3188+1724C>T
c.63281G>A (p.Gly21094Asp)
c.37175G>A (p.Gly12392Asp)
c.37034G>A (p.Gly12345Asp)
c.63077G>A (p.Gly21026Asp)
c.58475G>A (p.Gly19492Asp)
c.58472G>A (p.Gly19491Asp)
c.55514G>A (p.Gly18505Asp)
c.37130G>A (p.Gly12377Asp)
c.58625G>A (p.Gly19542Asp)
c.58622G>A (p.Gly19541Asp)
c.58055G>A (p.Gly19352Asp)
c.55397G>A (p.Gly18466Asp)
c.55316G>A (p.Gly18439Asp)
c.37079G>A (p.Gly12360Asp)
c.26933G>A (p.Gly8978Asp)
 dbSNP gnomAD v4
2g.178586718C>ACA237879TTN,TTN-AS1c.56479G>T (p.Gly18827Cys)
c.37564G>T (p.Gly12522Cys)
c.37363G>T (p.Gly12455Cys)
c.36988G>T (p.Gly12330Cys)
c.64183G>T (p.Gly21395Cys)
c.59260G>T (p.Gly19754Cys)
n.597-10878C>A
n.3188+1725C>A
c.63280G>T (p.Gly21094Cys)
c.37174G>T (p.Gly12392Cys)
c.37033G>T (p.Gly12345Cys)
c.63076G>T (p.Gly21026Cys)
c.58474G>T (p.Gly19492Cys)
c.58471G>T (p.Gly19491Cys)
c.55513G>T (p.Gly18505Cys)
c.37129G>T (p.Gly12377Cys)
c.58624G>T (p.Gly19542Cys)
c.58621G>T (p.Gly19541Cys)
c.58054G>T (p.Gly19352Cys)
c.55396G>T (p.Gly18466Cys)
c.55315G>T (p.Gly18439Cys)
c.37078G>T (p.Gly12360Cys)
c.26932G>T (p.Gly8978Cys)
 ClinVar dbSNP
2g.178586718C=CA1310537719TTN,TTN-AS1c.56479G= (p.Gly18827=)
c.37564G= (p.Gly12522=)
c.37363G= (p.Gly12455=)
c.36988G= (p.Gly12330=)
c.64183G= (p.Gly21395=)
c.59260G= (p.Gly19754=)
n.597-10878C=
n.3188+1725C=
c.63280G= (p.Gly21094=)
c.37174G= (p.Gly12392=)
c.37033G= (p.Gly12345=)
c.63076G= (p.Gly21026=)
c.58474G= (p.Gly19492=)
c.58471G= (p.Gly19491=)
c.55513G= (p.Gly18505=)
c.37129G= (p.Gly12377=)
c.58624G= (p.Gly19542=)
c.58621G= (p.Gly19541=)
c.58054G= (p.Gly19352=)
c.55396G= (p.Gly18466=)
c.55315G= (p.Gly18439=)
c.37078G= (p.Gly12360=)
c.26932G= (p.Gly8978=)
2g.178586718C>GCA349443083TTN,TTN-AS1c.56479G>C (p.Gly18827Arg)
c.37564G>C (p.Gly12522Arg)
c.37363G>C (p.Gly12455Arg)
c.36988G>C (p.Gly12330Arg)
c.64183G>C (p.Gly21395Arg)
c.59260G>C (p.Gly19754Arg)
n.597-10878C>G
n.3188+1725C>G
c.63280G>C (p.Gly21094Arg)
c.37174G>C (p.Gly12392Arg)
c.37033G>C (p.Gly12345Arg)
c.63076G>C (p.Gly21026Arg)
c.58474G>C (p.Gly19492Arg)
c.58471G>C (p.Gly19491Arg)
c.55513G>C (p.Gly18505Arg)
c.37129G>C (p.Gly12377Arg)
c.58624G>C (p.Gly19542Arg)
c.58621G>C (p.Gly19541Arg)
c.58054G>C (p.Gly19352Arg)
c.55396G>C (p.Gly18466Arg)
c.55315G>C (p.Gly18439Arg)
c.37078G>C (p.Gly12360Arg)
c.26932G>C (p.Gly8978Arg)
2g.178586718C>TCA349443084TTN,TTN-AS1c.56479G>A (p.Gly18827Ser)
c.37564G>A (p.Gly12522Ser)
c.37363G>A (p.Gly12455Ser)
c.36988G>A (p.Gly12330Ser)
c.64183G>A (p.Gly21395Ser)
c.59260G>A (p.Gly19754Ser)
n.597-10878C>T
n.3188+1725C>T
c.63280G>A (p.Gly21094Ser)
c.37174G>A (p.Gly12392Ser)
c.37033G>A (p.Gly12345Ser)
c.63076G>A (p.Gly21026Ser)
c.58474G>A (p.Gly19492Ser)
c.58471G>A (p.Gly19491Ser)
c.55513G>A (p.Gly18505Ser)
c.37129G>A (p.Gly12377Ser)
c.58624G>A (p.Gly19542Ser)
c.58621G>A (p.Gly19541Ser)
c.58054G>A (p.Gly19352Ser)
c.55396G>A (p.Gly18466Ser)
c.55315G>A (p.Gly18439Ser)
c.37078G>A (p.Gly12360Ser)
c.26932G>A (p.Gly8978Ser)
 gnomAD v4
2g.178586719T>ACA430264380TTN,TTN-AS1c.56478A>T (p.Gly18826=)
c.37563A>T (p.Gly12521=)
c.37362A>T (p.Gly12454=)
c.36987A>T (p.Gly12329=)
c.64182A>T (p.Gly21394=)
c.59259A>T (p.Gly19753=)
n.597-10877T>A
n.3188+1726T>A
c.63279A>T (p.Gly21093=)
c.37173A>T (p.Gly12391=)
c.37032A>T (p.Gly12344=)
c.63075A>T (p.Gly21025=)
c.58473A>T (p.Gly19491=)
c.58470A>T (p.Gly19490=)
c.55512A>T (p.Gly18504=)
c.37128A>T (p.Gly12376=)
c.58623A>T (p.Gly19541=)
c.58620A>T (p.Gly19540=)
c.58053A>T (p.Gly19351=)
c.55395A>T (p.Gly18465=)
c.55314A>T (p.Gly18438=)
c.37077A>T (p.Gly12359=)
c.26931A>T (p.Gly8977=)
2g.178586719T>CCA430264381TTN,TTN-AS1c.56478A>G (p.Gly18826=)
c.37563A>G (p.Gly12521=)
c.37362A>G (p.Gly12454=)
c.36987A>G (p.Gly12329=)
c.64182A>G (p.Gly21394=)
c.59259A>G (p.Gly19753=)
n.597-10877T>C
n.3188+1726T>C
c.63279A>G (p.Gly21093=)
c.37173A>G (p.Gly12391=)
c.37032A>G (p.Gly12344=)
c.63075A>G (p.Gly21025=)
c.58473A>G (p.Gly19491=)
c.58470A>G (p.Gly19490=)
c.55512A>G (p.Gly18504=)
c.37128A>G (p.Gly12376=)
c.58623A>G (p.Gly19541=)
c.58620A>G (p.Gly19540=)
c.58053A>G (p.Gly19351=)
c.55395A>G (p.Gly18465=)
c.55314A>G (p.Gly18438=)
c.37077A>G (p.Gly12359=)
c.26931A>G (p.Gly8977=)
 gnomAD v4
2g.178586719T>GCA430264382TTN,TTN-AS1c.56478A>C (p.Gly18826=)
c.37563A>C (p.Gly12521=)
c.37362A>C (p.Gly12454=)
c.36987A>C (p.Gly12329=)
c.64182A>C (p.Gly21394=)
c.59259A>C (p.Gly19753=)
n.597-10877T>G
n.3188+1726T>G
c.63279A>C (p.Gly21093=)
c.37173A>C (p.Gly12391=)
c.37032A>C (p.Gly12344=)
c.63075A>C (p.Gly21025=)
c.58473A>C (p.Gly19491=)
c.58470A>C (p.Gly19490=)
c.55512A>C (p.Gly18504=)
c.37128A>C (p.Gly12376=)
c.58623A>C (p.Gly19541=)
c.58620A>C (p.Gly19540=)
c.58053A>C (p.Gly19351=)
c.55395A>C (p.Gly18465=)
c.55314A>C (p.Gly18438=)
c.37077A>C (p.Gly12359=)
c.26931A>C (p.Gly8977=)

Number of alleles fetched