Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178581488_178581518dupCA2662129725TTN,TTN-AS1c.59047_59065+12dup
c.40132_40150+12dup
c.39931_39949+12dup
c.39556_39574+12dup
c.66751_66769+12dup
c.61828_61846+12dup
n.596+10039_596+10069dup
n.2044-1084_2044-1054dup
c.65848_65866+12dup
c.39742_39760+12dup
c.39601_39619+12dup
c.65644_65662+12dup
c.61042_61060+12dup
c.61039_61057+12dup
c.58081_58099+12dup
c.39697_39715+12dup
c.61192_61210+12dup
c.61189_61207+12dup
c.60622_60640+12dup
c.57964_57982+12dup
c.57883_57901+12dup
c.39646_39664+12dup
c.29500_29518+12dup
 gnomAD v4
2g.178581498_178581501delCA235089TTN,TTN-AS1c.59065+4_59065+7del
c.40150+4_40150+7del
c.39949+4_39949+7del
c.39574+4_39574+7del
c.66769+4_66769+7del
c.61846+4_61846+7del
n.596+10049_596+10052del
n.2044-1074_2044-1071del
c.65866+4_65866+7del
c.39760+4_39760+7del
c.39619+4_39619+7del
c.65662+4_65662+7del
c.61060+4_61060+7del
c.61057+4_61057+7del
c.58099+4_58099+7del
c.39715+4_39715+7del
c.61210+4_61210+7del
c.61207+4_61207+7del
c.60640+4_60640+7del
c.57982+4_57982+7del
c.57901+4_57901+7del
c.39664+4_39664+7del
c.29518+4_29518+7del
 ClinVar dbSNP gnomAD v4
2g.178581501A=CA1310535752TTN,TTN-AS1c.59063T= (p.Leu19688=)
c.40148T= (p.Leu13383=)
c.39947T= (p.Leu13316=)
c.39572T= (p.Leu13191=)
c.66767T= (p.Leu22256=)
c.61844T= (p.Leu20615=)
n.596+10052A=
n.2044-1071A=
c.65864T= (p.Leu21955=)
c.39758T= (p.Leu13253=)
c.39617T= (p.Leu13206=)
c.65660T= (p.Leu21887=)
c.61058T= (p.Leu20353=)
c.61055T= (p.Leu20352=)
c.58097T= (p.Leu19366=)
c.39713T= (p.Leu13238=)
c.61208T= (p.Leu20403=)
c.61205T= (p.Leu20402=)
c.60638T= (p.Leu20213=)
c.57980T= (p.Leu19327=)
c.57899T= (p.Leu19300=)
c.39662T= (p.Leu13221=)
c.29516T= (p.Leu9839=)
2g.178581501A>CCA16617363TTN,TTN-AS1c.59063T>G (p.Leu19688Ter)
c.40148T>G (p.Leu13383Ter)
c.39947T>G (p.Leu13316Ter)
c.39572T>G (p.Leu13191Ter)
c.66767T>G (p.Leu22256Ter)
c.61844T>G (p.Leu20615Ter)
n.596+10052A>C
n.2044-1071A>C
c.65864T>G (p.Leu21955Ter)
c.39758T>G (p.Leu13253Ter)
c.39617T>G (p.Leu13206Ter)
c.65660T>G (p.Leu21887Ter)
c.61058T>G (p.Leu20353Ter)
c.61055T>G (p.Leu20352Ter)
c.58097T>G (p.Leu19366Ter)
c.39713T>G (p.Leu13238Ter)
c.61208T>G (p.Leu20403Ter)
c.61205T>G (p.Leu20402Ter)
c.60638T>G (p.Leu20213Ter)
c.57980T>G (p.Leu19327Ter)
c.57899T>G (p.Leu19300Ter)
c.39662T>G (p.Leu13221Ter)
c.29516T>G (p.Leu9839Ter)
 ClinVar dbSNP gnomAD v4
2g.178581501A>GCA349427983TTN,TTN-AS1c.59063T>C (p.Leu19688Ser)
c.40148T>C (p.Leu13383Ser)
c.39947T>C (p.Leu13316Ser)
c.39572T>C (p.Leu13191Ser)
c.66767T>C (p.Leu22256Ser)
c.61844T>C (p.Leu20615Ser)
n.596+10052A>G
n.2044-1071A>G
c.65864T>C (p.Leu21955Ser)
c.39758T>C (p.Leu13253Ser)
c.39617T>C (p.Leu13206Ser)
c.65660T>C (p.Leu21887Ser)
c.61058T>C (p.Leu20353Ser)
c.61055T>C (p.Leu20352Ser)
c.58097T>C (p.Leu19366Ser)
c.39713T>C (p.Leu13238Ser)
c.61208T>C (p.Leu20403Ser)
c.61205T>C (p.Leu20402Ser)
c.60638T>C (p.Leu20213Ser)
c.57980T>C (p.Leu19327Ser)
c.57899T>C (p.Leu19300Ser)
c.39662T>C (p.Leu13221Ser)
c.29516T>C (p.Leu9839Ser)
2g.178581501A>TCA349427985TTN,TTN-AS1c.59063T>A (p.Leu19688Ter)
c.40148T>A (p.Leu13383Ter)
c.39947T>A (p.Leu13316Ter)
c.39572T>A (p.Leu13191Ter)
c.66767T>A (p.Leu22256Ter)
c.61844T>A (p.Leu20615Ter)
n.596+10052A>T
n.2044-1071A>T
c.65864T>A (p.Leu21955Ter)
c.39758T>A (p.Leu13253Ter)
c.39617T>A (p.Leu13206Ter)
c.65660T>A (p.Leu21887Ter)
c.61058T>A (p.Leu20353Ter)
c.61055T>A (p.Leu20352Ter)
c.58097T>A (p.Leu19366Ter)
c.39713T>A (p.Leu13238Ter)
c.61208T>A (p.Leu20403Ter)
c.61205T>A (p.Leu20402Ter)
c.60638T>A (p.Leu20213Ter)
c.57980T>A (p.Leu19327Ter)
c.57899T>A (p.Leu19300Ter)
c.39662T>A (p.Leu13221Ter)
c.29516T>A (p.Leu9839Ter)
2g.178581502A=CA1310535753TTN,TTN-AS1c.59062T= (p.Leu19688=)
c.40147T= (p.Leu13383=)
c.39946T= (p.Leu13316=)
c.39571T= (p.Leu13191=)
c.66766T= (p.Leu22256=)
c.61843T= (p.Leu20615=)
n.596+10053A=
n.2044-1070A=
c.65863T= (p.Leu21955=)
c.39757T= (p.Leu13253=)
c.39616T= (p.Leu13206=)
c.65659T= (p.Leu21887=)
c.61057T= (p.Leu20353=)
c.61054T= (p.Leu20352=)
c.58096T= (p.Leu19366=)
c.39712T= (p.Leu13238=)
c.61207T= (p.Leu20403=)
c.61204T= (p.Leu20402=)
c.60637T= (p.Leu20213=)
c.57979T= (p.Leu19327=)
c.57898T= (p.Leu19300=)
c.39661T= (p.Leu13221=)
c.29515T= (p.Leu9839=)
2g.178581502A>CCA349427988TTN,TTN-AS1c.59062T>G (p.Leu19688Val)
c.40147T>G (p.Leu13383Val)
c.39946T>G (p.Leu13316Val)
c.39571T>G (p.Leu13191Val)
c.66766T>G (p.Leu22256Val)
c.61843T>G (p.Leu20615Val)
n.596+10053A>C
n.2044-1070A>C
c.65863T>G (p.Leu21955Val)
c.39757T>G (p.Leu13253Val)
c.39616T>G (p.Leu13206Val)
c.65659T>G (p.Leu21887Val)
c.61057T>G (p.Leu20353Val)
c.61054T>G (p.Leu20352Val)
c.58096T>G (p.Leu19366Val)
c.39712T>G (p.Leu13238Val)
c.61207T>G (p.Leu20403Val)
c.61204T>G (p.Leu20402Val)
c.60637T>G (p.Leu20213Val)
c.57979T>G (p.Leu19327Val)
c.57898T>G (p.Leu19300Val)
c.39661T>G (p.Leu13221Val)
c.29515T>G (p.Leu9839Val)
2g.178581502A>GCA1991451TTN,TTN-AS1c.59062T>C (p.Leu19688=)
c.40147T>C (p.Leu13383=)
c.39946T>C (p.Leu13316=)
c.39571T>C (p.Leu13191=)
c.66766T>C (p.Leu22256=)
c.61843T>C (p.Leu20615=)
n.596+10053A>G
n.2044-1070A>G
c.65863T>C (p.Leu21955=)
c.39757T>C (p.Leu13253=)
c.39616T>C (p.Leu13206=)
c.65659T>C (p.Leu21887=)
c.61057T>C (p.Leu20353=)
c.61054T>C (p.Leu20352=)
c.58096T>C (p.Leu19366=)
c.39712T>C (p.Leu13238=)
c.61207T>C (p.Leu20403=)
c.61204T>C (p.Leu20402=)
c.60637T>C (p.Leu20213=)
c.57979T>C (p.Leu19327=)
c.57898T>C (p.Leu19300=)
c.39661T>C (p.Leu13221=)
c.29515T>C (p.Leu9839=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178581502A>TCA349427991TTN,TTN-AS1c.59062T>A (p.Leu19688Ile)
c.40147T>A (p.Leu13383Ile)
c.39946T>A (p.Leu13316Ile)
c.39571T>A (p.Leu13191Ile)
c.66766T>A (p.Leu22256Ile)
c.61843T>A (p.Leu20615Ile)
n.596+10053A>T
n.2044-1070A>T
c.65863T>A (p.Leu21955Ile)
c.39757T>A (p.Leu13253Ile)
c.39616T>A (p.Leu13206Ile)
c.65659T>A (p.Leu21887Ile)
c.61057T>A (p.Leu20353Ile)
c.61054T>A (p.Leu20352Ile)
c.58096T>A (p.Leu19366Ile)
c.39712T>A (p.Leu13238Ile)
c.61207T>A (p.Leu20403Ile)
c.61204T>A (p.Leu20402Ile)
c.60637T>A (p.Leu20213Ile)
c.57979T>A (p.Leu19327Ile)
c.57898T>A (p.Leu19300Ile)
c.39661T>A (p.Leu13221Ile)
c.29515T>A (p.Leu9839Ile)
2g.178581503G>ACA430261631TTN,TTN-AS1c.59061C>T (p.Ile19687=)
c.40146C>T (p.Ile13382=)
c.39945C>T (p.Ile13315=)
c.39570C>T (p.Ile13190=)
c.66765C>T (p.Ile22255=)
c.61842C>T (p.Ile20614=)
n.596+10054G>A
n.2044-1069G>A
c.65862C>T (p.Ile21954=)
c.39756C>T (p.Ile13252=)
c.39615C>T (p.Ile13205=)
c.65658C>T (p.Ile21886=)
c.61056C>T (p.Ile20352=)
c.61053C>T (p.Ile20351=)
c.58095C>T (p.Ile19365=)
c.39711C>T (p.Ile13237=)
c.61206C>T (p.Ile20402=)
c.61203C>T (p.Ile20401=)
c.60636C>T (p.Ile20212=)
c.57978C>T (p.Ile19326=)
c.57897C>T (p.Ile19299=)
c.39660C>T (p.Ile13220=)
c.29514C>T (p.Ile9838=)
2g.178581503G>CCA349427993TTN,TTN-AS1c.59061C>G (p.Ile19687Met)
c.40146C>G (p.Ile13382Met)
c.39945C>G (p.Ile13315Met)
c.39570C>G (p.Ile13190Met)
c.66765C>G (p.Ile22255Met)
c.61842C>G (p.Ile20614Met)
n.596+10054G>C
n.2044-1069G>C
c.65862C>G (p.Ile21954Met)
c.39756C>G (p.Ile13252Met)
c.39615C>G (p.Ile13205Met)
c.65658C>G (p.Ile21886Met)
c.61056C>G (p.Ile20352Met)
c.61053C>G (p.Ile20351Met)
c.58095C>G (p.Ile19365Met)
c.39711C>G (p.Ile13237Met)
c.61206C>G (p.Ile20402Met)
c.61203C>G (p.Ile20401Met)
c.60636C>G (p.Ile20212Met)
c.57978C>G (p.Ile19326Met)
c.57897C>G (p.Ile19299Met)
c.39660C>G (p.Ile13220Met)
c.29514C>G (p.Ile9838Met)
2g.178581503G>TCA430261634TTN,TTN-AS1c.59061C>A (p.Ile19687=)
c.40146C>A (p.Ile13382=)
c.39945C>A (p.Ile13315=)
c.39570C>A (p.Ile13190=)
c.66765C>A (p.Ile22255=)
c.61842C>A (p.Ile20614=)
n.596+10054G>T
n.2044-1069G>T
c.65862C>A (p.Ile21954=)
c.39756C>A (p.Ile13252=)
c.39615C>A (p.Ile13205=)
c.65658C>A (p.Ile21886=)
c.61056C>A (p.Ile20352=)
c.61053C>A (p.Ile20351=)
c.58095C>A (p.Ile19365=)
c.39711C>A (p.Ile13237=)
c.61206C>A (p.Ile20402=)
c.61203C>A (p.Ile20401=)
c.60636C>A (p.Ile20212=)
c.57978C>A (p.Ile19326=)
c.57897C>A (p.Ile19299=)
c.39660C>A (p.Ile13220=)
c.29514C>A (p.Ile9838=)
2g.178581504A>CCA349427996TTN,TTN-AS1c.59060T>G (p.Ile19687Ser)
c.40145T>G (p.Ile13382Ser)
c.39944T>G (p.Ile13315Ser)
c.39569T>G (p.Ile13190Ser)
c.66764T>G (p.Ile22255Ser)
c.61841T>G (p.Ile20614Ser)
n.596+10055A>C
n.2044-1068A>C
c.65861T>G (p.Ile21954Ser)
c.39755T>G (p.Ile13252Ser)
c.39614T>G (p.Ile13205Ser)
c.65657T>G (p.Ile21886Ser)
c.61055T>G (p.Ile20352Ser)
c.61052T>G (p.Ile20351Ser)
c.58094T>G (p.Ile19365Ser)
c.39710T>G (p.Ile13237Ser)
c.61205T>G (p.Ile20402Ser)
c.61202T>G (p.Ile20401Ser)
c.60635T>G (p.Ile20212Ser)
c.57977T>G (p.Ile19326Ser)
c.57896T>G (p.Ile19299Ser)
c.39659T>G (p.Ile13220Ser)
c.29513T>G (p.Ile9838Ser)
2g.178581504A>GCA349427997TTN,TTN-AS1c.59060T>C (p.Ile19687Thr)
c.40145T>C (p.Ile13382Thr)
c.39944T>C (p.Ile13315Thr)
c.39569T>C (p.Ile13190Thr)
c.66764T>C (p.Ile22255Thr)
c.61841T>C (p.Ile20614Thr)
n.596+10055A>G
n.2044-1068A>G
c.65861T>C (p.Ile21954Thr)
c.39755T>C (p.Ile13252Thr)
c.39614T>C (p.Ile13205Thr)
c.65657T>C (p.Ile21886Thr)
c.61055T>C (p.Ile20352Thr)
c.61052T>C (p.Ile20351Thr)
c.58094T>C (p.Ile19365Thr)
c.39710T>C (p.Ile13237Thr)
c.61205T>C (p.Ile20402Thr)
c.61202T>C (p.Ile20401Thr)
c.60635T>C (p.Ile20212Thr)
c.57977T>C (p.Ile19326Thr)
c.57896T>C (p.Ile19299Thr)
c.39659T>C (p.Ile13220Thr)
c.29513T>C (p.Ile9838Thr)
2g.178581504A>TCA349428000TTN,TTN-AS1c.59060T>A (p.Ile19687Asn)
c.40145T>A (p.Ile13382Asn)
c.39944T>A (p.Ile13315Asn)
c.39569T>A (p.Ile13190Asn)
c.66764T>A (p.Ile22255Asn)
c.61841T>A (p.Ile20614Asn)
n.596+10055A>T
n.2044-1068A>T
c.65861T>A (p.Ile21954Asn)
c.39755T>A (p.Ile13252Asn)
c.39614T>A (p.Ile13205Asn)
c.65657T>A (p.Ile21886Asn)
c.61055T>A (p.Ile20352Asn)
c.61052T>A (p.Ile20351Asn)
c.58094T>A (p.Ile19365Asn)
c.39710T>A (p.Ile13237Asn)
c.61205T>A (p.Ile20402Asn)
c.61202T>A (p.Ile20401Asn)
c.60635T>A (p.Ile20212Asn)
c.57977T>A (p.Ile19326Asn)
c.57896T>A (p.Ile19299Asn)
c.39659T>A (p.Ile13220Asn)
c.29513T>A (p.Ile9838Asn)
2g.178581505T>ACA349428003TTN,TTN-AS1c.59059A>T (p.Ile19687Phe)
c.40144A>T (p.Ile13382Phe)
c.39943A>T (p.Ile13315Phe)
c.39568A>T (p.Ile13190Phe)
c.66763A>T (p.Ile22255Phe)
c.61840A>T (p.Ile20614Phe)
n.596+10056T>A
n.2044-1067T>A
c.65860A>T (p.Ile21954Phe)
c.39754A>T (p.Ile13252Phe)
c.39613A>T (p.Ile13205Phe)
c.65656A>T (p.Ile21886Phe)
c.61054A>T (p.Ile20352Phe)
c.61051A>T (p.Ile20351Phe)
c.58093A>T (p.Ile19365Phe)
c.39709A>T (p.Ile13237Phe)
c.61204A>T (p.Ile20402Phe)
c.61201A>T (p.Ile20401Phe)
c.60634A>T (p.Ile20212Phe)
c.57976A>T (p.Ile19326Phe)
c.57895A>T (p.Ile19299Phe)
c.39658A>T (p.Ile13220Phe)
c.29512A>T (p.Ile9838Phe)
2g.178581505T>CCA349428007TTN,TTN-AS1c.59059A>G (p.Ile19687Val)
c.40144A>G (p.Ile13382Val)
c.39943A>G (p.Ile13315Val)
c.39568A>G (p.Ile13190Val)
c.66763A>G (p.Ile22255Val)
c.61840A>G (p.Ile20614Val)
n.596+10056T>C
n.2044-1067T>C
c.65860A>G (p.Ile21954Val)
c.39754A>G (p.Ile13252Val)
c.39613A>G (p.Ile13205Val)
c.65656A>G (p.Ile21886Val)
c.61054A>G (p.Ile20352Val)
c.61051A>G (p.Ile20351Val)
c.58093A>G (p.Ile19365Val)
c.39709A>G (p.Ile13237Val)
c.61204A>G (p.Ile20402Val)
c.61201A>G (p.Ile20401Val)
c.60634A>G (p.Ile20212Val)
c.57976A>G (p.Ile19326Val)
c.57895A>G (p.Ile19299Val)
c.39658A>G (p.Ile13220Val)
c.29512A>G (p.Ile9838Val)
2g.178581505T>GCA349428005TTN,TTN-AS1c.59059A>C (p.Ile19687Leu)
c.40144A>C (p.Ile13382Leu)
c.39943A>C (p.Ile13315Leu)
c.39568A>C (p.Ile13190Leu)
c.66763A>C (p.Ile22255Leu)
c.61840A>C (p.Ile20614Leu)
n.596+10056T>G
n.2044-1067T>G
c.65860A>C (p.Ile21954Leu)
c.39754A>C (p.Ile13252Leu)
c.39613A>C (p.Ile13205Leu)
c.65656A>C (p.Ile21886Leu)
c.61054A>C (p.Ile20352Leu)
c.61051A>C (p.Ile20351Leu)
c.58093A>C (p.Ile19365Leu)
c.39709A>C (p.Ile13237Leu)
c.61204A>C (p.Ile20402Leu)
c.61201A>C (p.Ile20401Leu)
c.60634A>C (p.Ile20212Leu)
c.57976A>C (p.Ile19326Leu)
c.57895A>C (p.Ile19299Leu)
c.39658A>C (p.Ile13220Leu)
c.29512A>C (p.Ile9838Leu)
2g.178581506G>ACA430261639TTN,TTN-AS1c.59058C>T (p.Asp19686=)
c.40143C>T (p.Asp13381=)
c.39942C>T (p.Asp13314=)
c.39567C>T (p.Asp13189=)
c.66762C>T (p.Asp22254=)
c.61839C>T (p.Asp20613=)
n.596+10057G>A
n.2044-1066G>A
c.65859C>T (p.Asp21953=)
c.39753C>T (p.Asp13251=)
c.39612C>T (p.Asp13204=)
c.65655C>T (p.Asp21885=)
c.61053C>T (p.Asp20351=)
c.61050C>T (p.Asp20350=)
c.58092C>T (p.Asp19364=)
c.39708C>T (p.Asp13236=)
c.61203C>T (p.Asp20401=)
c.61200C>T (p.Asp20400=)
c.60633C>T (p.Asp20211=)
c.57975C>T (p.Asp19325=)
c.57894C>T (p.Asp19298=)
c.39657C>T (p.Asp13219=)
c.29511C>T (p.Asp9837=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178581506G>CCA349428010TTN,TTN-AS1c.59058C>G (p.Asp19686Glu)
c.40143C>G (p.Asp13381Glu)
c.39942C>G (p.Asp13314Glu)
c.39567C>G (p.Asp13189Glu)
c.66762C>G (p.Asp22254Glu)
c.61839C>G (p.Asp20613Glu)
n.596+10057G>C
n.2044-1066G>C
c.65859C>G (p.Asp21953Glu)
c.39753C>G (p.Asp13251Glu)
c.39612C>G (p.Asp13204Glu)
c.65655C>G (p.Asp21885Glu)
c.61053C>G (p.Asp20351Glu)
c.61050C>G (p.Asp20350Glu)
c.58092C>G (p.Asp19364Glu)
c.39708C>G (p.Asp13236Glu)
c.61203C>G (p.Asp20401Glu)
c.61200C>G (p.Asp20400Glu)
c.60633C>G (p.Asp20211Glu)
c.57975C>G (p.Asp19325Glu)
c.57894C>G (p.Asp19298Glu)
c.39657C>G (p.Asp13219Glu)
c.29511C>G (p.Asp9837Glu)
2g.178581506G=CA1310535754TTN,TTN-AS1c.59058C= (p.Asp19686=)
c.40143C= (p.Asp13381=)
c.39942C= (p.Asp13314=)
c.39567C= (p.Asp13189=)
c.66762C= (p.Asp22254=)
c.61839C= (p.Asp20613=)
n.596+10057G=
n.2044-1066G=
c.65859C= (p.Asp21953=)
c.39753C= (p.Asp13251=)
c.39612C= (p.Asp13204=)
c.65655C= (p.Asp21885=)
c.61053C= (p.Asp20351=)
c.61050C= (p.Asp20350=)
c.58092C= (p.Asp19364=)
c.39708C= (p.Asp13236=)
c.61203C= (p.Asp20401=)
c.61200C= (p.Asp20400=)
c.60633C= (p.Asp20211=)
c.57975C= (p.Asp19325=)
c.57894C= (p.Asp19298=)
c.39657C= (p.Asp13219=)
c.29511C= (p.Asp9837=)
2g.178581506G>TCA349428012TTN,TTN-AS1c.59058C>A (p.Asp19686Glu)
c.40143C>A (p.Asp13381Glu)
c.39942C>A (p.Asp13314Glu)
c.39567C>A (p.Asp13189Glu)
c.66762C>A (p.Asp22254Glu)
c.61839C>A (p.Asp20613Glu)
n.596+10057G>T
n.2044-1066G>T
c.65859C>A (p.Asp21953Glu)
c.39753C>A (p.Asp13251Glu)
c.39612C>A (p.Asp13204Glu)
c.65655C>A (p.Asp21885Glu)
c.61053C>A (p.Asp20351Glu)
c.61050C>A (p.Asp20350Glu)
c.58092C>A (p.Asp19364Glu)
c.39708C>A (p.Asp13236Glu)
c.61203C>A (p.Asp20401Glu)
c.61200C>A (p.Asp20400Glu)
c.60633C>A (p.Asp20211Glu)
c.57975C>A (p.Asp19325Glu)
c.57894C>A (p.Asp19298Glu)
c.39657C>A (p.Asp13219Glu)
c.29511C>A (p.Asp9837Glu)
2g.178581507T>ACA349428013TTN,TTN-AS1c.59057A>T (p.Asp19686Val)
c.40142A>T (p.Asp13381Val)
c.39941A>T (p.Asp13314Val)
c.39566A>T (p.Asp13189Val)
c.66761A>T (p.Asp22254Val)
c.61838A>T (p.Asp20613Val)
n.596+10058T>A
n.2044-1065T>A
c.65858A>T (p.Asp21953Val)
c.39752A>T (p.Asp13251Val)
c.39611A>T (p.Asp13204Val)
c.65654A>T (p.Asp21885Val)
c.61052A>T (p.Asp20351Val)
c.61049A>T (p.Asp20350Val)
c.58091A>T (p.Asp19364Val)
c.39707A>T (p.Asp13236Val)
c.61202A>T (p.Asp20401Val)
c.61199A>T (p.Asp20400Val)
c.60632A>T (p.Asp20211Val)
c.57974A>T (p.Asp19325Val)
c.57893A>T (p.Asp19298Val)
c.39656A>T (p.Asp13219Val)
c.29510A>T (p.Asp9837Val)
2g.178581507T>CCA349428017TTN,TTN-AS1c.59057A>G (p.Asp19686Gly)
c.40142A>G (p.Asp13381Gly)
c.39941A>G (p.Asp13314Gly)
c.39566A>G (p.Asp13189Gly)
c.66761A>G (p.Asp22254Gly)
c.61838A>G (p.Asp20613Gly)
n.596+10058T>C
n.2044-1065T>C
c.65858A>G (p.Asp21953Gly)
c.39752A>G (p.Asp13251Gly)
c.39611A>G (p.Asp13204Gly)
c.65654A>G (p.Asp21885Gly)
c.61052A>G (p.Asp20351Gly)
c.61049A>G (p.Asp20350Gly)
c.58091A>G (p.Asp19364Gly)
c.39707A>G (p.Asp13236Gly)
c.61202A>G (p.Asp20401Gly)
c.61199A>G (p.Asp20400Gly)
c.60632A>G (p.Asp20211Gly)
c.57974A>G (p.Asp19325Gly)
c.57893A>G (p.Asp19298Gly)
c.39656A>G (p.Asp13219Gly)
c.29510A>G (p.Asp9837Gly)
2g.178581507T>GCA349428015TTN,TTN-AS1c.59057A>C (p.Asp19686Ala)
c.40142A>C (p.Asp13381Ala)
c.39941A>C (p.Asp13314Ala)
c.39566A>C (p.Asp13189Ala)
c.66761A>C (p.Asp22254Ala)
c.61838A>C (p.Asp20613Ala)
n.596+10058T>G
n.2044-1065T>G
c.65858A>C (p.Asp21953Ala)
c.39752A>C (p.Asp13251Ala)
c.39611A>C (p.Asp13204Ala)
c.65654A>C (p.Asp21885Ala)
c.61052A>C (p.Asp20351Ala)
c.61049A>C (p.Asp20350Ala)
c.58091A>C (p.Asp19364Ala)
c.39707A>C (p.Asp13236Ala)
c.61202A>C (p.Asp20401Ala)
c.61199A>C (p.Asp20400Ala)
c.60632A>C (p.Asp20211Ala)
c.57974A>C (p.Asp19325Ala)
c.57893A>C (p.Asp19298Ala)
c.39656A>C (p.Asp13219Ala)
c.29510A>C (p.Asp9837Ala)
2g.178581508C>ACA349428020TTN,TTN-AS1c.59056G>T (p.Asp19686Tyr)
c.40141G>T (p.Asp13381Tyr)
c.39940G>T (p.Asp13314Tyr)
c.39565G>T (p.Asp13189Tyr)
c.66760G>T (p.Asp22254Tyr)
c.61837G>T (p.Asp20613Tyr)
n.596+10059C>A
n.2044-1064C>A
c.65857G>T (p.Asp21953Tyr)
c.39751G>T (p.Asp13251Tyr)
c.39610G>T (p.Asp13204Tyr)
c.65653G>T (p.Asp21885Tyr)
c.61051G>T (p.Asp20351Tyr)
c.61048G>T (p.Asp20350Tyr)
c.58090G>T (p.Asp19364Tyr)
c.39706G>T (p.Asp13236Tyr)
c.61201G>T (p.Asp20401Tyr)
c.61198G>T (p.Asp20400Tyr)
c.60631G>T (p.Asp20211Tyr)
c.57973G>T (p.Asp19325Tyr)
c.57892G>T (p.Asp19298Tyr)
c.39655G>T (p.Asp13219Tyr)
c.29509G>T (p.Asp9837Tyr)
2g.178581508C=CA1310535755TTN,TTN-AS1c.59056G= (p.Asp19686=)
c.40141G= (p.Asp13381=)
c.39940G= (p.Asp13314=)
c.39565G= (p.Asp13189=)
c.66760G= (p.Asp22254=)
c.61837G= (p.Asp20613=)
n.596+10059C=
n.2044-1064C=
c.65857G= (p.Asp21953=)
c.39751G= (p.Asp13251=)
c.39610G= (p.Asp13204=)
c.65653G= (p.Asp21885=)
c.61051G= (p.Asp20351=)
c.61048G= (p.Asp20350=)
c.58090G= (p.Asp19364=)
c.39706G= (p.Asp13236=)
c.61201G= (p.Asp20401=)
c.61198G= (p.Asp20400=)
c.60631G= (p.Asp20211=)
c.57973G= (p.Asp19325=)
c.57892G= (p.Asp19298=)
c.39655G= (p.Asp13219=)
c.29509G= (p.Asp9837=)
2g.178581508C>GCA349428021TTN,TTN-AS1c.59056G>C (p.Asp19686His)
c.40141G>C (p.Asp13381His)
c.39940G>C (p.Asp13314His)
c.39565G>C (p.Asp13189His)
c.66760G>C (p.Asp22254His)
c.61837G>C (p.Asp20613His)
n.596+10059C>G
n.2044-1064C>G
c.65857G>C (p.Asp21953His)
c.39751G>C (p.Asp13251His)
c.39610G>C (p.Asp13204His)
c.65653G>C (p.Asp21885His)
c.61051G>C (p.Asp20351His)
c.61048G>C (p.Asp20350His)
c.58090G>C (p.Asp19364His)
c.39706G>C (p.Asp13236His)
c.61201G>C (p.Asp20401His)
c.61198G>C (p.Asp20400His)
c.60631G>C (p.Asp20211His)
c.57973G>C (p.Asp19325His)
c.57892G>C (p.Asp19298His)
c.39655G>C (p.Asp13219His)
c.29509G>C (p.Asp9837His)
2g.178581508C>TCA1991452TTN,TTN-AS1c.59056G>A (p.Asp19686Asn)
c.40141G>A (p.Asp13381Asn)
c.39940G>A (p.Asp13314Asn)
c.39565G>A (p.Asp13189Asn)
c.66760G>A (p.Asp22254Asn)
c.61837G>A (p.Asp20613Asn)
n.596+10059C>T
n.2044-1064C>T
c.65857G>A (p.Asp21953Asn)
c.39751G>A (p.Asp13251Asn)
c.39610G>A (p.Asp13204Asn)
c.65653G>A (p.Asp21885Asn)
c.61051G>A (p.Asp20351Asn)
c.61048G>A (p.Asp20350Asn)
c.58090G>A (p.Asp19364Asn)
c.39706G>A (p.Asp13236Asn)
c.61201G>A (p.Asp20401Asn)
c.61198G>A (p.Asp20400Asn)
c.60631G>A (p.Asp20211Asn)
c.57973G>A (p.Asp19325Asn)
c.57892G>A (p.Asp19298Asn)
c.39655G>A (p.Asp13219Asn)
c.29509G>A (p.Asp9837Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178581509C>ACA349428025TTN,TTN-AS1c.59055G>T (p.Lys19685Asn)
c.40140G>T (p.Lys13380Asn)
c.39939G>T (p.Lys13313Asn)
c.39564G>T (p.Lys13188Asn)
c.66759G>T (p.Lys22253Asn)
c.61836G>T (p.Lys20612Asn)
n.596+10060C>A
n.2044-1063C>A
c.65856G>T (p.Lys21952Asn)
c.39750G>T (p.Lys13250Asn)
c.39609G>T (p.Lys13203Asn)
c.65652G>T (p.Lys21884Asn)
c.61050G>T (p.Lys20350Asn)
c.61047G>T (p.Lys20349Asn)
c.58089G>T (p.Lys19363Asn)
c.39705G>T (p.Lys13235Asn)
c.61200G>T (p.Lys20400Asn)
c.61197G>T (p.Lys20399Asn)
c.60630G>T (p.Lys20210Asn)
c.57972G>T (p.Lys19324Asn)
c.57891G>T (p.Lys19297Asn)
c.39654G>T (p.Lys13218Asn)
c.29508G>T (p.Lys9836Asn)
 gnomAD v4
2g.178581509C>GCA349428026TTN,TTN-AS1c.59055G>C (p.Lys19685Asn)
c.40140G>C (p.Lys13380Asn)
c.39939G>C (p.Lys13313Asn)
c.39564G>C (p.Lys13188Asn)
c.66759G>C (p.Lys22253Asn)
c.61836G>C (p.Lys20612Asn)
n.596+10060C>G
n.2044-1063C>G
c.65856G>C (p.Lys21952Asn)
c.39750G>C (p.Lys13250Asn)
c.39609G>C (p.Lys13203Asn)
c.65652G>C (p.Lys21884Asn)
c.61050G>C (p.Lys20350Asn)
c.61047G>C (p.Lys20349Asn)
c.58089G>C (p.Lys19363Asn)
c.39705G>C (p.Lys13235Asn)
c.61200G>C (p.Lys20400Asn)
c.61197G>C (p.Lys20399Asn)
c.60630G>C (p.Lys20210Asn)
c.57972G>C (p.Lys19324Asn)
c.57891G>C (p.Lys19297Asn)
c.39654G>C (p.Lys13218Asn)
c.29508G>C (p.Lys9836Asn)
2g.178581509C>TCA430261648TTN,TTN-AS1c.59055G>A (p.Lys19685=)
c.40140G>A (p.Lys13380=)
c.39939G>A (p.Lys13313=)
c.39564G>A (p.Lys13188=)
c.66759G>A (p.Lys22253=)
c.61836G>A (p.Lys20612=)
n.596+10060C>T
n.2044-1063C>T
c.65856G>A (p.Lys21952=)
c.39750G>A (p.Lys13250=)
c.39609G>A (p.Lys13203=)
c.65652G>A (p.Lys21884=)
c.61050G>A (p.Lys20350=)
c.61047G>A (p.Lys20349=)
c.58089G>A (p.Lys19363=)
c.39705G>A (p.Lys13235=)
c.61200G>A (p.Lys20400=)
c.61197G>A (p.Lys20399=)
c.60630G>A (p.Lys20210=)
c.57972G>A (p.Lys19324=)
c.57891G>A (p.Lys19297=)
c.39654G>A (p.Lys13218=)
c.29508G>A (p.Lys9836=)
2g.178581510T>ACA349428029TTN,TTN-AS1c.59054A>T (p.Lys19685Met)
c.40139A>T (p.Lys13380Met)
c.39938A>T (p.Lys13313Met)
c.39563A>T (p.Lys13188Met)
c.66758A>T (p.Lys22253Met)
c.61835A>T (p.Lys20612Met)
n.596+10061T>A
n.2044-1062T>A
c.65855A>T (p.Lys21952Met)
c.39749A>T (p.Lys13250Met)
c.39608A>T (p.Lys13203Met)
c.65651A>T (p.Lys21884Met)
c.61049A>T (p.Lys20350Met)
c.61046A>T (p.Lys20349Met)
c.58088A>T (p.Lys19363Met)
c.39704A>T (p.Lys13235Met)
c.61199A>T (p.Lys20400Met)
c.61196A>T (p.Lys20399Met)
c.60629A>T (p.Lys20210Met)
c.57971A>T (p.Lys19324Met)
c.57890A>T (p.Lys19297Met)
c.39653A>T (p.Lys13218Met)
c.29507A>T (p.Lys9836Met)
2g.178581510T>CCA349428031TTN,TTN-AS1c.59054A>G (p.Lys19685Arg)
c.40139A>G (p.Lys13380Arg)
c.39938A>G (p.Lys13313Arg)
c.39563A>G (p.Lys13188Arg)
c.66758A>G (p.Lys22253Arg)
c.61835A>G (p.Lys20612Arg)
n.596+10061T>C
n.2044-1062T>C
c.65855A>G (p.Lys21952Arg)
c.39749A>G (p.Lys13250Arg)
c.39608A>G (p.Lys13203Arg)
c.65651A>G (p.Lys21884Arg)
c.61049A>G (p.Lys20350Arg)
c.61046A>G (p.Lys20349Arg)
c.58088A>G (p.Lys19363Arg)
c.39704A>G (p.Lys13235Arg)
c.61199A>G (p.Lys20400Arg)
c.61196A>G (p.Lys20399Arg)
c.60629A>G (p.Lys20210Arg)
c.57971A>G (p.Lys19324Arg)
c.57890A>G (p.Lys19297Arg)
c.39653A>G (p.Lys13218Arg)
c.29507A>G (p.Lys9836Arg)
2g.178581510T>GCA349428032TTN,TTN-AS1c.59054A>C (p.Lys19685Thr)
c.40139A>C (p.Lys13380Thr)
c.39938A>C (p.Lys13313Thr)
c.39563A>C (p.Lys13188Thr)
c.66758A>C (p.Lys22253Thr)
c.61835A>C (p.Lys20612Thr)
n.596+10061T>G
n.2044-1062T>G
c.65855A>C (p.Lys21952Thr)
c.39749A>C (p.Lys13250Thr)
c.39608A>C (p.Lys13203Thr)
c.65651A>C (p.Lys21884Thr)
c.61049A>C (p.Lys20350Thr)
c.61046A>C (p.Lys20349Thr)
c.58088A>C (p.Lys19363Thr)
c.39704A>C (p.Lys13235Thr)
c.61199A>C (p.Lys20400Thr)
c.61196A>C (p.Lys20399Thr)
c.60629A>C (p.Lys20210Thr)
c.57971A>C (p.Lys19324Thr)
c.57890A>C (p.Lys19297Thr)
c.39653A>C (p.Lys13218Thr)
c.29507A>C (p.Lys9836Thr)
2g.178581511T>ACA349428035TTN,TTN-AS1c.59053A>T (p.Lys19685Ter)
c.40138A>T (p.Lys13380Ter)
c.39937A>T (p.Lys13313Ter)
c.39562A>T (p.Lys13188Ter)
c.66757A>T (p.Lys22253Ter)
c.61834A>T (p.Lys20612Ter)
n.596+10062T>A
n.2044-1061T>A
c.65854A>T (p.Lys21952Ter)
c.39748A>T (p.Lys13250Ter)
c.39607A>T (p.Lys13203Ter)
c.65650A>T (p.Lys21884Ter)
c.61048A>T (p.Lys20350Ter)
c.61045A>T (p.Lys20349Ter)
c.58087A>T (p.Lys19363Ter)
c.39703A>T (p.Lys13235Ter)
c.61198A>T (p.Lys20400Ter)
c.61195A>T (p.Lys20399Ter)
c.60628A>T (p.Lys20210Ter)
c.57970A>T (p.Lys19324Ter)
c.57889A>T (p.Lys19297Ter)
c.39652A>T (p.Lys13218Ter)
c.29506A>T (p.Lys9836Ter)
2g.178581511T>CCA349428037TTN,TTN-AS1c.59053A>G (p.Lys19685Glu)
c.40138A>G (p.Lys13380Glu)
c.39937A>G (p.Lys13313Glu)
c.39562A>G (p.Lys13188Glu)
c.66757A>G (p.Lys22253Glu)
c.61834A>G (p.Lys20612Glu)
n.596+10062T>C
n.2044-1061T>C
c.65854A>G (p.Lys21952Glu)
c.39748A>G (p.Lys13250Glu)
c.39607A>G (p.Lys13203Glu)
c.65650A>G (p.Lys21884Glu)
c.61048A>G (p.Lys20350Glu)
c.61045A>G (p.Lys20349Glu)
c.58087A>G (p.Lys19363Glu)
c.39703A>G (p.Lys13235Glu)
c.61198A>G (p.Lys20400Glu)
c.61195A>G (p.Lys20399Glu)
c.60628A>G (p.Lys20210Glu)
c.57970A>G (p.Lys19324Glu)
c.57889A>G (p.Lys19297Glu)
c.39652A>G (p.Lys13218Glu)
c.29506A>G (p.Lys9836Glu)
2g.178581511T>GCA349428039TTN,TTN-AS1c.59053A>C (p.Lys19685Gln)
c.40138A>C (p.Lys13380Gln)
c.39937A>C (p.Lys13313Gln)
c.39562A>C (p.Lys13188Gln)
c.66757A>C (p.Lys22253Gln)
c.61834A>C (p.Lys20612Gln)
n.596+10062T>G
n.2044-1061T>G
c.65854A>C (p.Lys21952Gln)
c.39748A>C (p.Lys13250Gln)
c.39607A>C (p.Lys13203Gln)
c.65650A>C (p.Lys21884Gln)
c.61048A>C (p.Lys20350Gln)
c.61045A>C (p.Lys20349Gln)
c.58087A>C (p.Lys19363Gln)
c.39703A>C (p.Lys13235Gln)
c.61198A>C (p.Lys20400Gln)
c.61195A>C (p.Lys20399Gln)
c.60628A>C (p.Lys20210Gln)
c.57970A>C (p.Lys19324Gln)
c.57889A>C (p.Lys19297Gln)
c.39652A>C (p.Lys13218Gln)
c.29506A>C (p.Lys9836Gln)
 dbSNP
2g.178581511T=CA1310535756TTN,TTN-AS1c.59053A= (p.Lys19685=)
c.40138A= (p.Lys13380=)
c.39937A= (p.Lys13313=)
c.39562A= (p.Lys13188=)
c.66757A= (p.Lys22253=)
c.61834A= (p.Lys20612=)
n.596+10062T=
n.2044-1061T=
c.65854A= (p.Lys21952=)
c.39748A= (p.Lys13250=)
c.39607A= (p.Lys13203=)
c.65650A= (p.Lys21884=)
c.61048A= (p.Lys20350=)
c.61045A= (p.Lys20349=)
c.58087A= (p.Lys19363=)
c.39703A= (p.Lys13235=)
c.61198A= (p.Lys20400=)
c.61195A= (p.Lys20399=)
c.60628A= (p.Lys20210=)
c.57970A= (p.Lys19324=)
c.57889A= (p.Lys19297=)
c.39652A= (p.Lys13218=)
c.29506A= (p.Lys9836=)
2g.178581512G>ACA1991453TTN,TTN-AS1c.59052C>T (p.Pro19684=)
c.40137C>T (p.Pro13379=)
c.39936C>T (p.Pro13312=)
c.39561C>T (p.Pro13187=)
c.66756C>T (p.Pro22252=)
c.61833C>T (p.Pro20611=)
n.596+10063G>A
n.2044-1060G>A
c.65853C>T (p.Pro21951=)
c.39747C>T (p.Pro13249=)
c.39606C>T (p.Pro13202=)
c.65649C>T (p.Pro21883=)
c.61047C>T (p.Pro20349=)
c.61044C>T (p.Pro20348=)
c.58086C>T (p.Pro19362=)
c.39702C>T (p.Pro13234=)
c.61197C>T (p.Pro20399=)
c.61194C>T (p.Pro20398=)
c.60627C>T (p.Pro20209=)
c.57969C>T (p.Pro19323=)
c.57888C>T (p.Pro19296=)
c.39651C>T (p.Pro13217=)
c.29505C>T (p.Pro9835=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178581512G>CCA430261660TTN,TTN-AS1c.59052C>G (p.Pro19684=)
c.40137C>G (p.Pro13379=)
c.39936C>G (p.Pro13312=)
c.39561C>G (p.Pro13187=)
c.66756C>G (p.Pro22252=)
c.61833C>G (p.Pro20611=)
n.596+10063G>C
n.2044-1060G>C
c.65853C>G (p.Pro21951=)
c.39747C>G (p.Pro13249=)
c.39606C>G (p.Pro13202=)
c.65649C>G (p.Pro21883=)
c.61047C>G (p.Pro20349=)
c.61044C>G (p.Pro20348=)
c.58086C>G (p.Pro19362=)
c.39702C>G (p.Pro13234=)
c.61197C>G (p.Pro20399=)
c.61194C>G (p.Pro20398=)
c.60627C>G (p.Pro20209=)
c.57969C>G (p.Pro19323=)
c.57888C>G (p.Pro19296=)
c.39651C>G (p.Pro13217=)
c.29505C>G (p.Pro9835=)
2g.178581512G=CA1310535757TTN,TTN-AS1c.59052C= (p.Pro19684=)
c.40137C= (p.Pro13379=)
c.39936C= (p.Pro13312=)
c.39561C= (p.Pro13187=)
c.66756C= (p.Pro22252=)
c.61833C= (p.Pro20611=)
n.596+10063G=
n.2044-1060G=
c.65853C= (p.Pro21951=)
c.39747C= (p.Pro13249=)
c.39606C= (p.Pro13202=)
c.65649C= (p.Pro21883=)
c.61047C= (p.Pro20349=)
c.61044C= (p.Pro20348=)
c.58086C= (p.Pro19362=)
c.39702C= (p.Pro13234=)
c.61197C= (p.Pro20399=)
c.61194C= (p.Pro20398=)
c.60627C= (p.Pro20209=)
c.57969C= (p.Pro19323=)
c.57888C= (p.Pro19296=)
c.39651C= (p.Pro13217=)
c.29505C= (p.Pro9835=)
2g.178581512G>TCA430261663TTN,TTN-AS1c.59052C>A (p.Pro19684=)
c.40137C>A (p.Pro13379=)
c.39936C>A (p.Pro13312=)
c.39561C>A (p.Pro13187=)
c.66756C>A (p.Pro22252=)
c.61833C>A (p.Pro20611=)
n.596+10063G>T
n.2044-1060G>T
c.65853C>A (p.Pro21951=)
c.39747C>A (p.Pro13249=)
c.39606C>A (p.Pro13202=)
c.65649C>A (p.Pro21883=)
c.61047C>A (p.Pro20349=)
c.61044C>A (p.Pro20348=)
c.58086C>A (p.Pro19362=)
c.39702C>A (p.Pro13234=)
c.61197C>A (p.Pro20399=)
c.61194C>A (p.Pro20398=)
c.60627C>A (p.Pro20209=)
c.57969C>A (p.Pro19323=)
c.57888C>A (p.Pro19296=)
c.39651C>A (p.Pro13217=)
c.29505C>A (p.Pro9835=)
 gnomAD v4
2g.178581513G>ACA349428045TTN,TTN-AS1c.59051C>T (p.Pro19684Leu)
c.40136C>T (p.Pro13379Leu)
c.39935C>T (p.Pro13312Leu)
c.39560C>T (p.Pro13187Leu)
c.66755C>T (p.Pro22252Leu)
c.61832C>T (p.Pro20611Leu)
n.596+10064G>A
n.2044-1059G>A
c.65852C>T (p.Pro21951Leu)
c.39746C>T (p.Pro13249Leu)
c.39605C>T (p.Pro13202Leu)
c.65648C>T (p.Pro21883Leu)
c.61046C>T (p.Pro20349Leu)
c.61043C>T (p.Pro20348Leu)
c.58085C>T (p.Pro19362Leu)
c.39701C>T (p.Pro13234Leu)
c.61196C>T (p.Pro20399Leu)
c.61193C>T (p.Pro20398Leu)
c.60626C>T (p.Pro20209Leu)
c.57968C>T (p.Pro19323Leu)
c.57887C>T (p.Pro19296Leu)
c.39650C>T (p.Pro13217Leu)
c.29504C>T (p.Pro9835Leu)
 gnomAD v4
2g.178581513G>CCA349428043TTN,TTN-AS1c.59051C>G (p.Pro19684Arg)
c.40136C>G (p.Pro13379Arg)
c.39935C>G (p.Pro13312Arg)
c.39560C>G (p.Pro13187Arg)
c.66755C>G (p.Pro22252Arg)
c.61832C>G (p.Pro20611Arg)
n.596+10064G>C
n.2044-1059G>C
c.65852C>G (p.Pro21951Arg)
c.39746C>G (p.Pro13249Arg)
c.39605C>G (p.Pro13202Arg)
c.65648C>G (p.Pro21883Arg)
c.61046C>G (p.Pro20349Arg)
c.61043C>G (p.Pro20348Arg)
c.58085C>G (p.Pro19362Arg)
c.39701C>G (p.Pro13234Arg)
c.61196C>G (p.Pro20399Arg)
c.61193C>G (p.Pro20398Arg)
c.60626C>G (p.Pro20209Arg)
c.57968C>G (p.Pro19323Arg)
c.57887C>G (p.Pro19296Arg)
c.39650C>G (p.Pro13217Arg)
c.29504C>G (p.Pro9835Arg)
2g.178581513G>TCA349428044TTN,TTN-AS1c.59051C>A (p.Pro19684His)
c.40136C>A (p.Pro13379His)
c.39935C>A (p.Pro13312His)
c.39560C>A (p.Pro13187His)
c.66755C>A (p.Pro22252His)
c.61832C>A (p.Pro20611His)
n.596+10064G>T
n.2044-1059G>T
c.65852C>A (p.Pro21951His)
c.39746C>A (p.Pro13249His)
c.39605C>A (p.Pro13202His)
c.65648C>A (p.Pro21883His)
c.61046C>A (p.Pro20349His)
c.61043C>A (p.Pro20348His)
c.58085C>A (p.Pro19362His)
c.39701C>A (p.Pro13234His)
c.61196C>A (p.Pro20399His)
c.61193C>A (p.Pro20398His)
c.60626C>A (p.Pro20209His)
c.57968C>A (p.Pro19323His)
c.57887C>A (p.Pro19296His)
c.39650C>A (p.Pro13217His)
c.29504C>A (p.Pro9835His)
2g.178581514G>ACA349428049TTN,TTN-AS1c.59050C>T (p.Pro19684Ser)
c.40135C>T (p.Pro13379Ser)
c.39934C>T (p.Pro13312Ser)
c.39559C>T (p.Pro13187Ser)
c.66754C>T (p.Pro22252Ser)
c.61831C>T (p.Pro20611Ser)
n.596+10065G>A
n.2044-1058G>A
c.65851C>T (p.Pro21951Ser)
c.39745C>T (p.Pro13249Ser)
c.39604C>T (p.Pro13202Ser)
c.65647C>T (p.Pro21883Ser)
c.61045C>T (p.Pro20349Ser)
c.61042C>T (p.Pro20348Ser)
c.58084C>T (p.Pro19362Ser)
c.39700C>T (p.Pro13234Ser)
c.61195C>T (p.Pro20399Ser)
c.61192C>T (p.Pro20398Ser)
c.60625C>T (p.Pro20209Ser)
c.57967C>T (p.Pro19323Ser)
c.57886C>T (p.Pro19296Ser)
c.39649C>T (p.Pro13217Ser)
c.29503C>T (p.Pro9835Ser)
 COSMIC COSMIC COSMIC
2g.178581514G>CCA349428051TTN,TTN-AS1c.59050C>G (p.Pro19684Ala)
c.40135C>G (p.Pro13379Ala)
c.39934C>G (p.Pro13312Ala)
c.39559C>G (p.Pro13187Ala)
c.66754C>G (p.Pro22252Ala)
c.61831C>G (p.Pro20611Ala)
n.596+10065G>C
n.2044-1058G>C
c.65851C>G (p.Pro21951Ala)
c.39745C>G (p.Pro13249Ala)
c.39604C>G (p.Pro13202Ala)
c.65647C>G (p.Pro21883Ala)
c.61045C>G (p.Pro20349Ala)
c.61042C>G (p.Pro20348Ala)
c.58084C>G (p.Pro19362Ala)
c.39700C>G (p.Pro13234Ala)
c.61195C>G (p.Pro20399Ala)
c.61192C>G (p.Pro20398Ala)
c.60625C>G (p.Pro20209Ala)
c.57967C>G (p.Pro19323Ala)
c.57886C>G (p.Pro19296Ala)
c.39649C>G (p.Pro13217Ala)
c.29503C>G (p.Pro9835Ala)
2g.178581514G>TCA349428053TTN,TTN-AS1c.59050C>A (p.Pro19684Thr)
c.40135C>A (p.Pro13379Thr)
c.39934C>A (p.Pro13312Thr)
c.39559C>A (p.Pro13187Thr)
c.66754C>A (p.Pro22252Thr)
c.61831C>A (p.Pro20611Thr)
n.596+10065G>T
n.2044-1058G>T
c.65851C>A (p.Pro21951Thr)
c.39745C>A (p.Pro13249Thr)
c.39604C>A (p.Pro13202Thr)
c.65647C>A (p.Pro21883Thr)
c.61045C>A (p.Pro20349Thr)
c.61042C>A (p.Pro20348Thr)
c.58084C>A (p.Pro19362Thr)
c.39700C>A (p.Pro13234Thr)
c.61195C>A (p.Pro20399Thr)
c.61192C>A (p.Pro20398Thr)
c.60625C>A (p.Pro20209Thr)
c.57967C>A (p.Pro19323Thr)
c.57886C>A (p.Pro19296Thr)
c.39649C>A (p.Pro13217Thr)
c.29503C>A (p.Pro9835Thr)

Number of alleles fetched