Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178594023T>ACA349507085TTN,TTN-AS1c.50666A>T (p.Tyr16889Phe)
c.31751A>T (p.Tyr10584Phe)
c.31550A>T (p.Tyr10517Phe)
c.31175A>T (p.Tyr10392Phe)
c.58370A>T (p.Tyr19457Phe)
c.53447A>T (p.Tyr17816Phe)
n.597-3573T>A
n.3364+2709T>A
c.57467A>T (p.Tyr19156Phe)
c.31361A>T (p.Tyr10454Phe)
c.31220A>T (p.Tyr10407Phe)
c.57263A>T (p.Tyr19088Phe)
c.52661A>T (p.Tyr17554Phe)
c.52658A>T (p.Tyr17553Phe)
c.49700A>T (p.Tyr16567Phe)
c.31316A>T (p.Tyr10439Phe)
c.52811A>T (p.Tyr17604Phe)
c.52808A>T (p.Tyr17603Phe)
c.52241A>T (p.Tyr17414Phe)
c.49583A>T (p.Tyr16528Phe)
c.49502A>T (p.Tyr16501Phe)
c.31265A>T (p.Tyr10422Phe)
c.21119A>T (p.Tyr7040Phe)
2g.178594023T>CCA349507086TTN,TTN-AS1c.50666A>G (p.Tyr16889Cys)
c.31751A>G (p.Tyr10584Cys)
c.31550A>G (p.Tyr10517Cys)
c.31175A>G (p.Tyr10392Cys)
c.58370A>G (p.Tyr19457Cys)
c.53447A>G (p.Tyr17816Cys)
n.597-3573T>C
n.3364+2709T>C
c.57467A>G (p.Tyr19156Cys)
c.31361A>G (p.Tyr10454Cys)
c.31220A>G (p.Tyr10407Cys)
c.57263A>G (p.Tyr19088Cys)
c.52661A>G (p.Tyr17554Cys)
c.52658A>G (p.Tyr17553Cys)
c.49700A>G (p.Tyr16567Cys)
c.31316A>G (p.Tyr10439Cys)
c.52811A>G (p.Tyr17604Cys)
c.52808A>G (p.Tyr17603Cys)
c.52241A>G (p.Tyr17414Cys)
c.49583A>G (p.Tyr16528Cys)
c.49502A>G (p.Tyr16501Cys)
c.31265A>G (p.Tyr10422Cys)
c.21119A>G (p.Tyr7040Cys)
2g.178594023T>GCA349507087TTN,TTN-AS1c.50666A>C (p.Tyr16889Ser)
c.31751A>C (p.Tyr10584Ser)
c.31550A>C (p.Tyr10517Ser)
c.31175A>C (p.Tyr10392Ser)
c.58370A>C (p.Tyr19457Ser)
c.53447A>C (p.Tyr17816Ser)
n.597-3573T>G
n.3364+2709T>G
c.57467A>C (p.Tyr19156Ser)
c.31361A>C (p.Tyr10454Ser)
c.31220A>C (p.Tyr10407Ser)
c.57263A>C (p.Tyr19088Ser)
c.52661A>C (p.Tyr17554Ser)
c.52658A>C (p.Tyr17553Ser)
c.49700A>C (p.Tyr16567Ser)
c.31316A>C (p.Tyr10439Ser)
c.52811A>C (p.Tyr17604Ser)
c.52808A>C (p.Tyr17603Ser)
c.52241A>C (p.Tyr17414Ser)
c.49583A>C (p.Tyr16528Ser)
c.49502A>C (p.Tyr16501Ser)
c.31265A>C (p.Tyr10422Ser)
c.21119A>C (p.Tyr7040Ser)
2g.178594024A=CA1310540931TTN,TTN-AS1c.50665T= (p.Tyr16889=)
c.31750T= (p.Tyr10584=)
c.31549T= (p.Tyr10517=)
c.31174T= (p.Tyr10392=)
c.58369T= (p.Tyr19457=)
c.53446T= (p.Tyr17816=)
n.597-3572A=
n.3364+2710A=
c.57466T= (p.Tyr19156=)
c.31360T= (p.Tyr10454=)
c.31219T= (p.Tyr10407=)
c.57262T= (p.Tyr19088=)
c.52660T= (p.Tyr17554=)
c.52657T= (p.Tyr17553=)
c.49699T= (p.Tyr16567=)
c.31315T= (p.Tyr10439=)
c.52810T= (p.Tyr17604=)
c.52807T= (p.Tyr17603=)
c.52240T= (p.Tyr17414=)
c.49582T= (p.Tyr16528=)
c.49501T= (p.Tyr16501=)
c.31264T= (p.Tyr10422=)
c.21118T= (p.Tyr7040=)
2g.178594024A>CCA349507090TTN,TTN-AS1c.50665T>G (p.Tyr16889Asp)
c.31750T>G (p.Tyr10584Asp)
c.31549T>G (p.Tyr10517Asp)
c.31174T>G (p.Tyr10392Asp)
c.58369T>G (p.Tyr19457Asp)
c.53446T>G (p.Tyr17816Asp)
n.597-3572A>C
n.3364+2710A>C
c.57466T>G (p.Tyr19156Asp)
c.31360T>G (p.Tyr10454Asp)
c.31219T>G (p.Tyr10407Asp)
c.57262T>G (p.Tyr19088Asp)
c.52660T>G (p.Tyr17554Asp)
c.52657T>G (p.Tyr17553Asp)
c.49699T>G (p.Tyr16567Asp)
c.31315T>G (p.Tyr10439Asp)
c.52810T>G (p.Tyr17604Asp)
c.52807T>G (p.Tyr17603Asp)
c.52240T>G (p.Tyr17414Asp)
c.49582T>G (p.Tyr16528Asp)
c.49501T>G (p.Tyr16501Asp)
c.31264T>G (p.Tyr10422Asp)
c.21118T>G (p.Tyr7040Asp)
2g.178594024A>GCA349507104TTN,TTN-AS1c.50665T>C (p.Tyr16889His)
c.31750T>C (p.Tyr10584His)
c.31549T>C (p.Tyr10517His)
c.31174T>C (p.Tyr10392His)
c.58369T>C (p.Tyr19457His)
c.53446T>C (p.Tyr17816His)
n.597-3572A>G
n.3364+2710A>G
c.57466T>C (p.Tyr19156His)
c.31360T>C (p.Tyr10454His)
c.31219T>C (p.Tyr10407His)
c.57262T>C (p.Tyr19088His)
c.52660T>C (p.Tyr17554His)
c.52657T>C (p.Tyr17553His)
c.49699T>C (p.Tyr16567His)
c.31315T>C (p.Tyr10439His)
c.52810T>C (p.Tyr17604His)
c.52807T>C (p.Tyr17603His)
c.52240T>C (p.Tyr17414His)
c.49582T>C (p.Tyr16528His)
c.49501T>C (p.Tyr16501His)
c.31264T>C (p.Tyr10422His)
c.21118T>C (p.Tyr7040His)
2g.178594024A>TCA349507105TTN,TTN-AS1c.50665T>A (p.Tyr16889Asn)
c.31750T>A (p.Tyr10584Asn)
c.31549T>A (p.Tyr10517Asn)
c.31174T>A (p.Tyr10392Asn)
c.58369T>A (p.Tyr19457Asn)
c.53446T>A (p.Tyr17816Asn)
n.597-3572A>T
n.3364+2710A>T
c.57466T>A (p.Tyr19156Asn)
c.31360T>A (p.Tyr10454Asn)
c.31219T>A (p.Tyr10407Asn)
c.57262T>A (p.Tyr19088Asn)
c.52660T>A (p.Tyr17554Asn)
c.52657T>A (p.Tyr17553Asn)
c.49699T>A (p.Tyr16567Asn)
c.31315T>A (p.Tyr10439Asn)
c.52810T>A (p.Tyr17604Asn)
c.52807T>A (p.Tyr17603Asn)
c.52240T>A (p.Tyr17414Asn)
c.49582T>A (p.Tyr16528Asn)
c.49501T>A (p.Tyr16501Asn)
c.31264T>A (p.Tyr10422Asn)
c.21118T>A (p.Tyr7040Asn)
2g.178594025T>ACA349507106TTN,TTN-AS1c.50664A>T (p.Lys16888Asn)
c.31749A>T (p.Lys10583Asn)
c.31548A>T (p.Lys10516Asn)
c.31173A>T (p.Lys10391Asn)
c.58368A>T (p.Lys19456Asn)
c.53445A>T (p.Lys17815Asn)
n.597-3571T>A
n.3364+2711T>A
c.57465A>T (p.Lys19155Asn)
c.31359A>T (p.Lys10453Asn)
c.31218A>T (p.Lys10406Asn)
c.57261A>T (p.Lys19087Asn)
c.52659A>T (p.Lys17553Asn)
c.52656A>T (p.Lys17552Asn)
c.49698A>T (p.Lys16566Asn)
c.31314A>T (p.Lys10438Asn)
c.52809A>T (p.Lys17603Asn)
c.52806A>T (p.Lys17602Asn)
c.52239A>T (p.Lys17413Asn)
c.49581A>T (p.Lys16527Asn)
c.49500A>T (p.Lys16500Asn)
c.31263A>T (p.Lys10421Asn)
c.21117A>T (p.Lys7039Asn)
2g.178594025T>CCA430267917TTN,TTN-AS1c.50664A>G (p.Lys16888=)
c.31749A>G (p.Lys10583=)
c.31548A>G (p.Lys10516=)
c.31173A>G (p.Lys10391=)
c.58368A>G (p.Lys19456=)
c.53445A>G (p.Lys17815=)
n.597-3571T>C
n.3364+2711T>C
c.57465A>G (p.Lys19155=)
c.31359A>G (p.Lys10453=)
c.31218A>G (p.Lys10406=)
c.57261A>G (p.Lys19087=)
c.52659A>G (p.Lys17553=)
c.52656A>G (p.Lys17552=)
c.49698A>G (p.Lys16566=)
c.31314A>G (p.Lys10438=)
c.52809A>G (p.Lys17603=)
c.52806A>G (p.Lys17602=)
c.52239A>G (p.Lys17413=)
c.49581A>G (p.Lys16527=)
c.49500A>G (p.Lys16500=)
c.31263A>G (p.Lys10421=)
c.21117A>G (p.Lys7039=)
2g.178594025T>GCA349507108TTN,TTN-AS1c.50664A>C (p.Lys16888Asn)
c.31749A>C (p.Lys10583Asn)
c.31548A>C (p.Lys10516Asn)
c.31173A>C (p.Lys10391Asn)
c.58368A>C (p.Lys19456Asn)
c.53445A>C (p.Lys17815Asn)
n.597-3571T>G
n.3364+2711T>G
c.57465A>C (p.Lys19155Asn)
c.31359A>C (p.Lys10453Asn)
c.31218A>C (p.Lys10406Asn)
c.57261A>C (p.Lys19087Asn)
c.52659A>C (p.Lys17553Asn)
c.52656A>C (p.Lys17552Asn)
c.49698A>C (p.Lys16566Asn)
c.31314A>C (p.Lys10438Asn)
c.52809A>C (p.Lys17603Asn)
c.52806A>C (p.Lys17602Asn)
c.52239A>C (p.Lys17413Asn)
c.49581A>C (p.Lys16527Asn)
c.49500A>C (p.Lys16500Asn)
c.31263A>C (p.Lys10421Asn)
c.21117A>C (p.Lys7039Asn)
2g.178594027dupCA1139655715TTN,TTN-AS1c.50664dup (p.Tyr16889IlefsTer12)
c.31749dup (p.Tyr10584IlefsTer12)
c.31548dup (p.Tyr10517IlefsTer12)
c.31173dup (p.Tyr10392IlefsTer12)
c.58368dup (p.Tyr19457IlefsTer12)
c.53445dup (p.Tyr17816IlefsTer12)
n.597-3569dup
n.3364+2713dup
c.57465dup (p.Tyr19156IlefsTer12)
c.31359dup (p.Tyr10454IlefsTer12)
c.31218dup (p.Tyr10407IlefsTer12)
c.57261dup (p.Tyr19088IlefsTer12)
c.52659dup (p.Tyr17554IlefsTer12)
c.52656dup (p.Tyr17553IlefsTer12)
c.49698dup (p.Tyr16567IlefsTer12)
c.31314dup (p.Tyr10439IlefsTer12)
c.52809dup (p.Tyr17604IlefsTer12)
c.52806dup (p.Tyr17603IlefsTer12)
c.52239dup (p.Tyr17414IlefsTer12)
c.49581dup (p.Tyr16528IlefsTer12)
c.49500dup (p.Tyr16501IlefsTer12)
c.31263dup (p.Tyr10422IlefsTer12)
c.21117dup (p.Tyr7040IlefsTer12)
 ClinVar dbSNP
2g.178594026T>ACA349507113TTN,TTN-AS1c.50663A>T (p.Lys16888Ile)
c.31748A>T (p.Lys10583Ile)
c.31547A>T (p.Lys10516Ile)
c.31172A>T (p.Lys10391Ile)
c.58367A>T (p.Lys19456Ile)
c.53444A>T (p.Lys17815Ile)
n.597-3570T>A
n.3364+2712T>A
c.57464A>T (p.Lys19155Ile)
c.31358A>T (p.Lys10453Ile)
c.31217A>T (p.Lys10406Ile)
c.57260A>T (p.Lys19087Ile)
c.52658A>T (p.Lys17553Ile)
c.52655A>T (p.Lys17552Ile)
c.49697A>T (p.Lys16566Ile)
c.31313A>T (p.Lys10438Ile)
c.52808A>T (p.Lys17603Ile)
c.52805A>T (p.Lys17602Ile)
c.52238A>T (p.Lys17413Ile)
c.49580A>T (p.Lys16527Ile)
c.49499A>T (p.Lys16500Ile)
c.31262A>T (p.Lys10421Ile)
c.21116A>T (p.Lys7039Ile)
2g.178594026T>CCA349507111TTN,TTN-AS1c.50663A>G (p.Lys16888Arg)
c.31748A>G (p.Lys10583Arg)
c.31547A>G (p.Lys10516Arg)
c.31172A>G (p.Lys10391Arg)
c.58367A>G (p.Lys19456Arg)
c.53444A>G (p.Lys17815Arg)
n.597-3570T>C
n.3364+2712T>C
c.57464A>G (p.Lys19155Arg)
c.31358A>G (p.Lys10453Arg)
c.31217A>G (p.Lys10406Arg)
c.57260A>G (p.Lys19087Arg)
c.52658A>G (p.Lys17553Arg)
c.52655A>G (p.Lys17552Arg)
c.49697A>G (p.Lys16566Arg)
c.31313A>G (p.Lys10438Arg)
c.52808A>G (p.Lys17603Arg)
c.52805A>G (p.Lys17602Arg)
c.52238A>G (p.Lys17413Arg)
c.49580A>G (p.Lys16527Arg)
c.49499A>G (p.Lys16500Arg)
c.31262A>G (p.Lys10421Arg)
c.21116A>G (p.Lys7039Arg)
 gnomAD v4
2g.178594026T>GCA349507112TTN,TTN-AS1c.50663A>C (p.Lys16888Thr)
c.31748A>C (p.Lys10583Thr)
c.31547A>C (p.Lys10516Thr)
c.31172A>C (p.Lys10391Thr)
c.58367A>C (p.Lys19456Thr)
c.53444A>C (p.Lys17815Thr)
n.597-3570T>G
n.3364+2712T>G
c.57464A>C (p.Lys19155Thr)
c.31358A>C (p.Lys10453Thr)
c.31217A>C (p.Lys10406Thr)
c.57260A>C (p.Lys19087Thr)
c.52658A>C (p.Lys17553Thr)
c.52655A>C (p.Lys17552Thr)
c.49697A>C (p.Lys16566Thr)
c.31313A>C (p.Lys10438Thr)
c.52808A>C (p.Lys17603Thr)
c.52805A>C (p.Lys17602Thr)
c.52238A>C (p.Lys17413Thr)
c.49580A>C (p.Lys16527Thr)
c.49499A>C (p.Lys16500Thr)
c.31262A>C (p.Lys10421Thr)
c.21116A>C (p.Lys7039Thr)
2g.178594027T>ACA349507116TTN,TTN-AS1c.50662A>T (p.Lys16888Ter)
c.31747A>T (p.Lys10583Ter)
c.31546A>T (p.Lys10516Ter)
c.31171A>T (p.Lys10391Ter)
c.58366A>T (p.Lys19456Ter)
c.53443A>T (p.Lys17815Ter)
n.597-3569T>A
n.3364+2713T>A
c.57463A>T (p.Lys19155Ter)
c.31357A>T (p.Lys10453Ter)
c.31216A>T (p.Lys10406Ter)
c.57259A>T (p.Lys19087Ter)
c.52657A>T (p.Lys17553Ter)
c.52654A>T (p.Lys17552Ter)
c.49696A>T (p.Lys16566Ter)
c.31312A>T (p.Lys10438Ter)
c.52807A>T (p.Lys17603Ter)
c.52804A>T (p.Lys17602Ter)
c.52237A>T (p.Lys17413Ter)
c.49579A>T (p.Lys16527Ter)
c.49498A>T (p.Lys16500Ter)
c.31261A>T (p.Lys10421Ter)
c.21115A>T (p.Lys7039Ter)
2g.178594027T>CCA349507117TTN,TTN-AS1c.50662A>G (p.Lys16888Glu)
c.31747A>G (p.Lys10583Glu)
c.31546A>G (p.Lys10516Glu)
c.31171A>G (p.Lys10391Glu)
c.58366A>G (p.Lys19456Glu)
c.53443A>G (p.Lys17815Glu)
n.597-3569T>C
n.3364+2713T>C
c.57463A>G (p.Lys19155Glu)
c.31357A>G (p.Lys10453Glu)
c.31216A>G (p.Lys10406Glu)
c.57259A>G (p.Lys19087Glu)
c.52657A>G (p.Lys17553Glu)
c.52654A>G (p.Lys17552Glu)
c.49696A>G (p.Lys16566Glu)
c.31312A>G (p.Lys10438Glu)
c.52807A>G (p.Lys17603Glu)
c.52804A>G (p.Lys17602Glu)
c.52237A>G (p.Lys17413Glu)
c.49579A>G (p.Lys16527Glu)
c.49498A>G (p.Lys16500Glu)
c.31261A>G (p.Lys10421Glu)
c.21115A>G (p.Lys7039Glu)
2g.178594027T>GCA349507119TTN,TTN-AS1c.50662A>C (p.Lys16888Gln)
c.31747A>C (p.Lys10583Gln)
c.31546A>C (p.Lys10516Gln)
c.31171A>C (p.Lys10391Gln)
c.58366A>C (p.Lys19456Gln)
c.53443A>C (p.Lys17815Gln)
n.597-3569T>G
n.3364+2713T>G
c.57463A>C (p.Lys19155Gln)
c.31357A>C (p.Lys10453Gln)
c.31216A>C (p.Lys10406Gln)
c.57259A>C (p.Lys19087Gln)
c.52657A>C (p.Lys17553Gln)
c.52654A>C (p.Lys17552Gln)
c.49696A>C (p.Lys16566Gln)
c.31312A>C (p.Lys10438Gln)
c.52807A>C (p.Lys17603Gln)
c.52804A>C (p.Lys17602Gln)
c.52237A>C (p.Lys17413Gln)
c.49579A>C (p.Lys16527Gln)
c.49498A>C (p.Lys16500Gln)
c.31261A>C (p.Lys10421Gln)
c.21115A>C (p.Lys7039Gln)
2g.178594028G>ACA430267918TTN,TTN-AS1c.50661C>T (p.Gly16887=)
c.31746C>T (p.Gly10582=)
c.31545C>T (p.Gly10515=)
c.31170C>T (p.Gly10390=)
c.58365C>T (p.Gly19455=)
c.53442C>T (p.Gly17814=)
n.597-3568G>A
n.3364+2714G>A
c.57462C>T (p.Gly19154=)
c.31356C>T (p.Gly10452=)
c.31215C>T (p.Gly10405=)
c.57258C>T (p.Gly19086=)
c.52656C>T (p.Gly17552=)
c.52653C>T (p.Gly17551=)
c.49695C>T (p.Gly16565=)
c.31311C>T (p.Gly10437=)
c.52806C>T (p.Gly17602=)
c.52803C>T (p.Gly17601=)
c.52236C>T (p.Gly17412=)
c.49578C>T (p.Gly16526=)
c.49497C>T (p.Gly16499=)
c.31260C>T (p.Gly10420=)
c.21114C>T (p.Gly7038=)
2g.178594028G>CCA430267919TTN,TTN-AS1c.50661C>G (p.Gly16887=)
c.31746C>G (p.Gly10582=)
c.31545C>G (p.Gly10515=)
c.31170C>G (p.Gly10390=)
c.58365C>G (p.Gly19455=)
c.53442C>G (p.Gly17814=)
n.597-3568G>C
n.3364+2714G>C
c.57462C>G (p.Gly19154=)
c.31356C>G (p.Gly10452=)
c.31215C>G (p.Gly10405=)
c.57258C>G (p.Gly19086=)
c.52656C>G (p.Gly17552=)
c.52653C>G (p.Gly17551=)
c.49695C>G (p.Gly16565=)
c.31311C>G (p.Gly10437=)
c.52806C>G (p.Gly17602=)
c.52803C>G (p.Gly17601=)
c.52236C>G (p.Gly17412=)
c.49578C>G (p.Gly16526=)
c.49497C>G (p.Gly16499=)
c.31260C>G (p.Gly10420=)
c.21114C>G (p.Gly7038=)
2g.178594028G>TCA430267920TTN,TTN-AS1c.50661C>A (p.Gly16887=)
c.31746C>A (p.Gly10582=)
c.31545C>A (p.Gly10515=)
c.31170C>A (p.Gly10390=)
c.58365C>A (p.Gly19455=)
c.53442C>A (p.Gly17814=)
n.597-3568G>T
n.3364+2714G>T
c.57462C>A (p.Gly19154=)
c.31356C>A (p.Gly10452=)
c.31215C>A (p.Gly10405=)
c.57258C>A (p.Gly19086=)
c.52656C>A (p.Gly17552=)
c.52653C>A (p.Gly17551=)
c.49695C>A (p.Gly16565=)
c.31311C>A (p.Gly10437=)
c.52806C>A (p.Gly17602=)
c.52803C>A (p.Gly17601=)
c.52236C>A (p.Gly17412=)
c.49578C>A (p.Gly16526=)
c.49497C>A (p.Gly16499=)
c.31260C>A (p.Gly10420=)
c.21114C>A (p.Gly7038=)
2g.178594029C>ACA349507120TTN,TTN-AS1c.50660G>T (p.Gly16887Val)
c.31745G>T (p.Gly10582Val)
c.31544G>T (p.Gly10515Val)
c.31169G>T (p.Gly10390Val)
c.58364G>T (p.Gly19455Val)
c.53441G>T (p.Gly17814Val)
n.597-3567C>A
n.3364+2715C>A
c.57461G>T (p.Gly19154Val)
c.31355G>T (p.Gly10452Val)
c.31214G>T (p.Gly10405Val)
c.57257G>T (p.Gly19086Val)
c.52655G>T (p.Gly17552Val)
c.52652G>T (p.Gly17551Val)
c.49694G>T (p.Gly16565Val)
c.31310G>T (p.Gly10437Val)
c.52805G>T (p.Gly17602Val)
c.52802G>T (p.Gly17601Val)
c.52235G>T (p.Gly17412Val)
c.49577G>T (p.Gly16526Val)
c.49496G>T (p.Gly16499Val)
c.31259G>T (p.Gly10420Val)
c.21113G>T (p.Gly7038Val)
2g.178594029C=CA1310540932TTN,TTN-AS1c.50660G= (p.Gly16887=)
c.31745G= (p.Gly10582=)
c.31544G= (p.Gly10515=)
c.31169G= (p.Gly10390=)
c.58364G= (p.Gly19455=)
c.53441G= (p.Gly17814=)
n.597-3567C=
n.3364+2715C=
c.57461G= (p.Gly19154=)
c.31355G= (p.Gly10452=)
c.31214G= (p.Gly10405=)
c.57257G= (p.Gly19086=)
c.52655G= (p.Gly17552=)
c.52652G= (p.Gly17551=)
c.49694G= (p.Gly16565=)
c.31310G= (p.Gly10437=)
c.52805G= (p.Gly17602=)
c.52802G= (p.Gly17601=)
c.52235G= (p.Gly17412=)
c.49577G= (p.Gly16526=)
c.49496G= (p.Gly16499=)
c.31259G= (p.Gly10420=)
c.21113G= (p.Gly7038=)
2g.178594029C>GCA1992874TTN,TTN-AS1c.50660G>C (p.Gly16887Ala)
c.31745G>C (p.Gly10582Ala)
c.31544G>C (p.Gly10515Ala)
c.31169G>C (p.Gly10390Ala)
c.58364G>C (p.Gly19455Ala)
c.53441G>C (p.Gly17814Ala)
n.597-3567C>G
n.3364+2715C>G
c.57461G>C (p.Gly19154Ala)
c.31355G>C (p.Gly10452Ala)
c.31214G>C (p.Gly10405Ala)
c.57257G>C (p.Gly19086Ala)
c.52655G>C (p.Gly17552Ala)
c.52652G>C (p.Gly17551Ala)
c.49694G>C (p.Gly16565Ala)
c.31310G>C (p.Gly10437Ala)
c.52805G>C (p.Gly17602Ala)
c.52802G>C (p.Gly17601Ala)
c.52235G>C (p.Gly17412Ala)
c.49577G>C (p.Gly16526Ala)
c.49496G>C (p.Gly16499Ala)
c.31259G>C (p.Gly10420Ala)
c.21113G>C (p.Gly7038Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178594029C>TCA349507122TTN,TTN-AS1c.50660G>A (p.Gly16887Asp)
c.31745G>A (p.Gly10582Asp)
c.31544G>A (p.Gly10515Asp)
c.31169G>A (p.Gly10390Asp)
c.58364G>A (p.Gly19455Asp)
c.53441G>A (p.Gly17814Asp)
n.597-3567C>T
n.3364+2715C>T
c.57461G>A (p.Gly19154Asp)
c.31355G>A (p.Gly10452Asp)
c.31214G>A (p.Gly10405Asp)
c.57257G>A (p.Gly19086Asp)
c.52655G>A (p.Gly17552Asp)
c.52652G>A (p.Gly17551Asp)
c.49694G>A (p.Gly16565Asp)
c.31310G>A (p.Gly10437Asp)
c.52805G>A (p.Gly17602Asp)
c.52802G>A (p.Gly17601Asp)
c.52235G>A (p.Gly17412Asp)
c.49577G>A (p.Gly16526Asp)
c.49496G>A (p.Gly16499Asp)
c.31259G>A (p.Gly10420Asp)
c.21113G>A (p.Gly7038Asp)
2g.178594030C>ACA349507125TTN,TTN-AS1c.50659G>T (p.Gly16887Cys)
c.31744G>T (p.Gly10582Cys)
c.31543G>T (p.Gly10515Cys)
c.31168G>T (p.Gly10390Cys)
c.58363G>T (p.Gly19455Cys)
c.53440G>T (p.Gly17814Cys)
n.597-3566C>A
n.3364+2716C>A
c.57460G>T (p.Gly19154Cys)
c.31354G>T (p.Gly10452Cys)
c.31213G>T (p.Gly10405Cys)
c.57256G>T (p.Gly19086Cys)
c.52654G>T (p.Gly17552Cys)
c.52651G>T (p.Gly17551Cys)
c.49693G>T (p.Gly16565Cys)
c.31309G>T (p.Gly10437Cys)
c.52804G>T (p.Gly17602Cys)
c.52801G>T (p.Gly17601Cys)
c.52234G>T (p.Gly17412Cys)
c.49576G>T (p.Gly16526Cys)
c.49495G>T (p.Gly16499Cys)
c.31258G>T (p.Gly10420Cys)
c.21112G>T (p.Gly7038Cys)
2g.178594030C=CA1310540933TTN,TTN-AS1c.50659G= (p.Gly16887=)
c.31744G= (p.Gly10582=)
c.31543G= (p.Gly10515=)
c.31168G= (p.Gly10390=)
c.58363G= (p.Gly19455=)
c.53440G= (p.Gly17814=)
n.597-3566C=
n.3364+2716C=
c.57460G= (p.Gly19154=)
c.31354G= (p.Gly10452=)
c.31213G= (p.Gly10405=)
c.57256G= (p.Gly19086=)
c.52654G= (p.Gly17552=)
c.52651G= (p.Gly17551=)
c.49693G= (p.Gly16565=)
c.31309G= (p.Gly10437=)
c.52804G= (p.Gly17602=)
c.52801G= (p.Gly17601=)
c.52234G= (p.Gly17412=)
c.49576G= (p.Gly16526=)
c.49495G= (p.Gly16499=)
c.31258G= (p.Gly10420=)
c.21112G= (p.Gly7038=)
2g.178594030C>GCA349507128TTN,TTN-AS1c.50659G>C (p.Gly16887Arg)
c.31744G>C (p.Gly10582Arg)
c.31543G>C (p.Gly10515Arg)
c.31168G>C (p.Gly10390Arg)
c.58363G>C (p.Gly19455Arg)
c.53440G>C (p.Gly17814Arg)
n.597-3566C>G
n.3364+2716C>G
c.57460G>C (p.Gly19154Arg)
c.31354G>C (p.Gly10452Arg)
c.31213G>C (p.Gly10405Arg)
c.57256G>C (p.Gly19086Arg)
c.52654G>C (p.Gly17552Arg)
c.52651G>C (p.Gly17551Arg)
c.49693G>C (p.Gly16565Arg)
c.31309G>C (p.Gly10437Arg)
c.52804G>C (p.Gly17602Arg)
c.52801G>C (p.Gly17601Arg)
c.52234G>C (p.Gly17412Arg)
c.49576G>C (p.Gly16526Arg)
c.49495G>C (p.Gly16499Arg)
c.31258G>C (p.Gly10420Arg)
c.21112G>C (p.Gly7038Arg)
2g.178594030C>TCA302859TTN,TTN-AS1c.50659G>A (p.Gly16887Ser)
c.31744G>A (p.Gly10582Ser)
c.31543G>A (p.Gly10515Ser)
c.31168G>A (p.Gly10390Ser)
c.58363G>A (p.Gly19455Ser)
c.53440G>A (p.Gly17814Ser)
n.597-3566C>T
n.3364+2716C>T
c.57460G>A (p.Gly19154Ser)
c.31354G>A (p.Gly10452Ser)
c.31213G>A (p.Gly10405Ser)
c.57256G>A (p.Gly19086Ser)
c.52654G>A (p.Gly17552Ser)
c.52651G>A (p.Gly17551Ser)
c.49693G>A (p.Gly16565Ser)
c.31309G>A (p.Gly10437Ser)
c.52804G>A (p.Gly17602Ser)
c.52801G>A (p.Gly17601Ser)
c.52234G>A (p.Gly17412Ser)
c.49576G>A (p.Gly16526Ser)
c.49495G>A (p.Gly16499Ser)
c.31258G>A (p.Gly10420Ser)
c.21112G>A (p.Gly7038Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178594031G>ACA1992875TTN,TTN-AS1c.50658C>T (p.Ser16886=)
c.31743C>T (p.Ser10581=)
c.31542C>T (p.Ser10514=)
c.31167C>T (p.Ser10389=)
c.58362C>T (p.Ser19454=)
c.53439C>T (p.Ser17813=)
n.597-3565G>A
n.3364+2717G>A
c.57459C>T (p.Ser19153=)
c.31353C>T (p.Ser10451=)
c.31212C>T (p.Ser10404=)
c.57255C>T (p.Ser19085=)
c.52653C>T (p.Ser17551=)
c.52650C>T (p.Ser17550=)
c.49692C>T (p.Ser16564=)
c.31308C>T (p.Ser10436=)
c.52803C>T (p.Ser17601=)
c.52800C>T (p.Ser17600=)
c.52233C>T (p.Ser17411=)
c.49575C>T (p.Ser16525=)
c.49494C>T (p.Ser16498=)
c.31257C>T (p.Ser10419=)
c.21111C>T (p.Ser7037=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178594031G>CCA430267921TTN,TTN-AS1c.50658C>G (p.Ser16886=)
c.31743C>G (p.Ser10581=)
c.31542C>G (p.Ser10514=)
c.31167C>G (p.Ser10389=)
c.58362C>G (p.Ser19454=)
c.53439C>G (p.Ser17813=)
n.597-3565G>C
n.3364+2717G>C
c.57459C>G (p.Ser19153=)
c.31353C>G (p.Ser10451=)
c.31212C>G (p.Ser10404=)
c.57255C>G (p.Ser19085=)
c.52653C>G (p.Ser17551=)
c.52650C>G (p.Ser17550=)
c.49692C>G (p.Ser16564=)
c.31308C>G (p.Ser10436=)
c.52803C>G (p.Ser17601=)
c.52800C>G (p.Ser17600=)
c.52233C>G (p.Ser17411=)
c.49575C>G (p.Ser16525=)
c.49494C>G (p.Ser16498=)
c.31257C>G (p.Ser10419=)
c.21111C>G (p.Ser7037=)
2g.178594031G=CA1310540934TTN,TTN-AS1c.50658C= (p.Ser16886=)
c.31743C= (p.Ser10581=)
c.31542C= (p.Ser10514=)
c.31167C= (p.Ser10389=)
c.58362C= (p.Ser19454=)
c.53439C= (p.Ser17813=)
n.597-3565G=
n.3364+2717G=
c.57459C= (p.Ser19153=)
c.31353C= (p.Ser10451=)
c.31212C= (p.Ser10404=)
c.57255C= (p.Ser19085=)
c.52653C= (p.Ser17551=)
c.52650C= (p.Ser17550=)
c.49692C= (p.Ser16564=)
c.31308C= (p.Ser10436=)
c.52803C= (p.Ser17601=)
c.52800C= (p.Ser17600=)
c.52233C= (p.Ser17411=)
c.49575C= (p.Ser16525=)
c.49494C= (p.Ser16498=)
c.31257C= (p.Ser10419=)
c.21111C= (p.Ser7037=)
2g.178594031G>TCA430267922TTN,TTN-AS1c.50658C>A (p.Ser16886=)
c.31743C>A (p.Ser10581=)
c.31542C>A (p.Ser10514=)
c.31167C>A (p.Ser10389=)
c.58362C>A (p.Ser19454=)
c.53439C>A (p.Ser17813=)
n.597-3565G>T
n.3364+2717G>T
c.57459C>A (p.Ser19153=)
c.31353C>A (p.Ser10451=)
c.31212C>A (p.Ser10404=)
c.57255C>A (p.Ser19085=)
c.52653C>A (p.Ser17551=)
c.52650C>A (p.Ser17550=)
c.49692C>A (p.Ser16564=)
c.31308C>A (p.Ser10436=)
c.52803C>A (p.Ser17601=)
c.52800C>A (p.Ser17600=)
c.52233C>A (p.Ser17411=)
c.49575C>A (p.Ser16525=)
c.49494C>A (p.Ser16498=)
c.31257C>A (p.Ser10419=)
c.21111C>A (p.Ser7037=)
2g.178594032G>ACA349507141TTN,TTN-AS1c.50657C>T (p.Ser16886Phe)
c.31742C>T (p.Ser10581Phe)
c.31541C>T (p.Ser10514Phe)
c.31166C>T (p.Ser10389Phe)
c.58361C>T (p.Ser19454Phe)
c.53438C>T (p.Ser17813Phe)
n.597-3564G>A
n.3364+2718G>A
c.57458C>T (p.Ser19153Phe)
c.31352C>T (p.Ser10451Phe)
c.31211C>T (p.Ser10404Phe)
c.57254C>T (p.Ser19085Phe)
c.52652C>T (p.Ser17551Phe)
c.52649C>T (p.Ser17550Phe)
c.49691C>T (p.Ser16564Phe)
c.31307C>T (p.Ser10436Phe)
c.52802C>T (p.Ser17601Phe)
c.52799C>T (p.Ser17600Phe)
c.52232C>T (p.Ser17411Phe)
c.49574C>T (p.Ser16525Phe)
c.49493C>T (p.Ser16498Phe)
c.31256C>T (p.Ser10419Phe)
c.21110C>T (p.Ser7037Phe)
2g.178594032G>CCA349507140TTN,TTN-AS1c.50657C>G (p.Ser16886Cys)
c.31742C>G (p.Ser10581Cys)
c.31541C>G (p.Ser10514Cys)
c.31166C>G (p.Ser10389Cys)
c.58361C>G (p.Ser19454Cys)
c.53438C>G (p.Ser17813Cys)
n.597-3564G>C
n.3364+2718G>C
c.57458C>G (p.Ser19153Cys)
c.31352C>G (p.Ser10451Cys)
c.31211C>G (p.Ser10404Cys)
c.57254C>G (p.Ser19085Cys)
c.52652C>G (p.Ser17551Cys)
c.52649C>G (p.Ser17550Cys)
c.49691C>G (p.Ser16564Cys)
c.31307C>G (p.Ser10436Cys)
c.52802C>G (p.Ser17601Cys)
c.52799C>G (p.Ser17600Cys)
c.52232C>G (p.Ser17411Cys)
c.49574C>G (p.Ser16525Cys)
c.49493C>G (p.Ser16498Cys)
c.31256C>G (p.Ser10419Cys)
c.21110C>G (p.Ser7037Cys)
2g.178594032G>TCA349507137TTN,TTN-AS1c.50657C>A (p.Ser16886Tyr)
c.31742C>A (p.Ser10581Tyr)
c.31541C>A (p.Ser10514Tyr)
c.31166C>A (p.Ser10389Tyr)
c.58361C>A (p.Ser19454Tyr)
c.53438C>A (p.Ser17813Tyr)
n.597-3564G>T
n.3364+2718G>T
c.57458C>A (p.Ser19153Tyr)
c.31352C>A (p.Ser10451Tyr)
c.31211C>A (p.Ser10404Tyr)
c.57254C>A (p.Ser19085Tyr)
c.52652C>A (p.Ser17551Tyr)
c.52649C>A (p.Ser17550Tyr)
c.49691C>A (p.Ser16564Tyr)
c.31307C>A (p.Ser10436Tyr)
c.52802C>A (p.Ser17601Tyr)
c.52799C>A (p.Ser17600Tyr)
c.52232C>A (p.Ser17411Tyr)
c.49574C>A (p.Ser16525Tyr)
c.49493C>A (p.Ser16498Tyr)
c.31256C>A (p.Ser10419Tyr)
c.21110C>A (p.Ser7037Tyr)
2g.178594033A>CCA349507146TTN,TTN-AS1c.50656T>G (p.Ser16886Ala)
c.31741T>G (p.Ser10581Ala)
c.31540T>G (p.Ser10514Ala)
c.31165T>G (p.Ser10389Ala)
c.58360T>G (p.Ser19454Ala)
c.53437T>G (p.Ser17813Ala)
n.597-3563A>C
n.3364+2719A>C
c.57457T>G (p.Ser19153Ala)
c.31351T>G (p.Ser10451Ala)
c.31210T>G (p.Ser10404Ala)
c.57253T>G (p.Ser19085Ala)
c.52651T>G (p.Ser17551Ala)
c.52648T>G (p.Ser17550Ala)
c.49690T>G (p.Ser16564Ala)
c.31306T>G (p.Ser10436Ala)
c.52801T>G (p.Ser17601Ala)
c.52798T>G (p.Ser17600Ala)
c.52231T>G (p.Ser17411Ala)
c.49573T>G (p.Ser16525Ala)
c.49492T>G (p.Ser16498Ala)
c.31255T>G (p.Ser10419Ala)
c.21109T>G (p.Ser7037Ala)
 COSMIC COSMIC COSMIC COSMIC
2g.178594033A>GCA349507149TTN,TTN-AS1c.50656T>C (p.Ser16886Pro)
c.31741T>C (p.Ser10581Pro)
c.31540T>C (p.Ser10514Pro)
c.31165T>C (p.Ser10389Pro)
c.58360T>C (p.Ser19454Pro)
c.53437T>C (p.Ser17813Pro)
n.597-3563A>G
n.3364+2719A>G
c.57457T>C (p.Ser19153Pro)
c.31351T>C (p.Ser10451Pro)
c.31210T>C (p.Ser10404Pro)
c.57253T>C (p.Ser19085Pro)
c.52651T>C (p.Ser17551Pro)
c.52648T>C (p.Ser17550Pro)
c.49690T>C (p.Ser16564Pro)
c.31306T>C (p.Ser10436Pro)
c.52801T>C (p.Ser17601Pro)
c.52798T>C (p.Ser17600Pro)
c.52231T>C (p.Ser17411Pro)
c.49573T>C (p.Ser16525Pro)
c.49492T>C (p.Ser16498Pro)
c.31255T>C (p.Ser10419Pro)
c.21109T>C (p.Ser7037Pro)
 gnomAD v4
2g.178594033A>TCA349507159TTN,TTN-AS1c.50656T>A (p.Ser16886Thr)
c.31741T>A (p.Ser10581Thr)
c.31540T>A (p.Ser10514Thr)
c.31165T>A (p.Ser10389Thr)
c.58360T>A (p.Ser19454Thr)
c.53437T>A (p.Ser17813Thr)
n.597-3563A>T
n.3364+2719A>T
c.57457T>A (p.Ser19153Thr)
c.31351T>A (p.Ser10451Thr)
c.31210T>A (p.Ser10404Thr)
c.57253T>A (p.Ser19085Thr)
c.52651T>A (p.Ser17551Thr)
c.52648T>A (p.Ser17550Thr)
c.49690T>A (p.Ser16564Thr)
c.31306T>A (p.Ser10436Thr)
c.52801T>A (p.Ser17601Thr)
c.52798T>A (p.Ser17600Thr)
c.52231T>A (p.Ser17411Thr)
c.49573T>A (p.Ser16525Thr)
c.49492T>A (p.Ser16498Thr)
c.31255T>A (p.Ser10419Thr)
c.21109T>A (p.Ser7037Thr)
2g.178594034A>CCA349507178TTN,TTN-AS1c.50655T>G (p.Asp16885Glu)
c.31740T>G (p.Asp10580Glu)
c.31539T>G (p.Asp10513Glu)
c.31164T>G (p.Asp10388Glu)
c.58359T>G (p.Asp19453Glu)
c.53436T>G (p.Asp17812Glu)
n.597-3562A>C
n.3364+2720A>C
c.57456T>G (p.Asp19152Glu)
c.31350T>G (p.Asp10450Glu)
c.31209T>G (p.Asp10403Glu)
c.57252T>G (p.Asp19084Glu)
c.52650T>G (p.Asp17550Glu)
c.52647T>G (p.Asp17549Glu)
c.49689T>G (p.Asp16563Glu)
c.31305T>G (p.Asp10435Glu)
c.52800T>G (p.Asp17600Glu)
c.52797T>G (p.Asp17599Glu)
c.52230T>G (p.Asp17410Glu)
c.49572T>G (p.Asp16524Glu)
c.49491T>G (p.Asp16497Glu)
c.31254T>G (p.Asp10418Glu)
c.21108T>G (p.Asp7036Glu)
2g.178594034A>GCA430267923TTN,TTN-AS1c.50655T>C (p.Asp16885=)
c.31740T>C (p.Asp10580=)
c.31539T>C (p.Asp10513=)
c.31164T>C (p.Asp10388=)
c.58359T>C (p.Asp19453=)
c.53436T>C (p.Asp17812=)
n.597-3562A>G
n.3364+2720A>G
c.57456T>C (p.Asp19152=)
c.31350T>C (p.Asp10450=)
c.31209T>C (p.Asp10403=)
c.57252T>C (p.Asp19084=)
c.52650T>C (p.Asp17550=)
c.52647T>C (p.Asp17549=)
c.49689T>C (p.Asp16563=)
c.31305T>C (p.Asp10435=)
c.52800T>C (p.Asp17600=)
c.52797T>C (p.Asp17599=)
c.52230T>C (p.Asp17410=)
c.49572T>C (p.Asp16524=)
c.49491T>C (p.Asp16497=)
c.31254T>C (p.Asp10418=)
c.21108T>C (p.Asp7036=)
2g.178594034A>TCA349507182TTN,TTN-AS1c.50655T>A (p.Asp16885Glu)
c.31740T>A (p.Asp10580Glu)
c.31539T>A (p.Asp10513Glu)
c.31164T>A (p.Asp10388Glu)
c.58359T>A (p.Asp19453Glu)
c.53436T>A (p.Asp17812Glu)
n.597-3562A>T
n.3364+2720A>T
c.57456T>A (p.Asp19152Glu)
c.31350T>A (p.Asp10450Glu)
c.31209T>A (p.Asp10403Glu)
c.57252T>A (p.Asp19084Glu)
c.52650T>A (p.Asp17550Glu)
c.52647T>A (p.Asp17549Glu)
c.49689T>A (p.Asp16563Glu)
c.31305T>A (p.Asp10435Glu)
c.52800T>A (p.Asp17600Glu)
c.52797T>A (p.Asp17599Glu)
c.52230T>A (p.Asp17410Glu)
c.49572T>A (p.Asp16524Glu)
c.49491T>A (p.Asp16497Glu)
c.31254T>A (p.Asp10418Glu)
c.21108T>A (p.Asp7036Glu)
2g.178594035T>ACA349507186TTN,TTN-AS1c.50654A>T (p.Asp16885Val)
c.31739A>T (p.Asp10580Val)
c.31538A>T (p.Asp10513Val)
c.31163A>T (p.Asp10388Val)
c.58358A>T (p.Asp19453Val)
c.53435A>T (p.Asp17812Val)
n.597-3561T>A
n.3364+2721T>A
c.57455A>T (p.Asp19152Val)
c.31349A>T (p.Asp10450Val)
c.31208A>T (p.Asp10403Val)
c.57251A>T (p.Asp19084Val)
c.52649A>T (p.Asp17550Val)
c.52646A>T (p.Asp17549Val)
c.49688A>T (p.Asp16563Val)
c.31304A>T (p.Asp10435Val)
c.52799A>T (p.Asp17600Val)
c.52796A>T (p.Asp17599Val)
c.52229A>T (p.Asp17410Val)
c.49571A>T (p.Asp16524Val)
c.49490A>T (p.Asp16497Val)
c.31253A>T (p.Asp10418Val)
c.21107A>T (p.Asp7036Val)
2g.178594035T>CCA349507188TTN,TTN-AS1c.50654A>G (p.Asp16885Gly)
c.31739A>G (p.Asp10580Gly)
c.31538A>G (p.Asp10513Gly)
c.31163A>G (p.Asp10388Gly)
c.58358A>G (p.Asp19453Gly)
c.53435A>G (p.Asp17812Gly)
n.597-3561T>C
n.3364+2721T>C
c.57455A>G (p.Asp19152Gly)
c.31349A>G (p.Asp10450Gly)
c.31208A>G (p.Asp10403Gly)
c.57251A>G (p.Asp19084Gly)
c.52649A>G (p.Asp17550Gly)
c.52646A>G (p.Asp17549Gly)
c.49688A>G (p.Asp16563Gly)
c.31304A>G (p.Asp10435Gly)
c.52799A>G (p.Asp17600Gly)
c.52796A>G (p.Asp17599Gly)
c.52229A>G (p.Asp17410Gly)
c.49571A>G (p.Asp16524Gly)
c.49490A>G (p.Asp16497Gly)
c.31253A>G (p.Asp10418Gly)
c.21107A>G (p.Asp7036Gly)
2g.178594035T>GCA349507190TTN,TTN-AS1c.50654A>C (p.Asp16885Ala)
c.31739A>C (p.Asp10580Ala)
c.31538A>C (p.Asp10513Ala)
c.31163A>C (p.Asp10388Ala)
c.58358A>C (p.Asp19453Ala)
c.53435A>C (p.Asp17812Ala)
n.597-3561T>G
n.3364+2721T>G
c.57455A>C (p.Asp19152Ala)
c.31349A>C (p.Asp10450Ala)
c.31208A>C (p.Asp10403Ala)
c.57251A>C (p.Asp19084Ala)
c.52649A>C (p.Asp17550Ala)
c.52646A>C (p.Asp17549Ala)
c.49688A>C (p.Asp16563Ala)
c.31304A>C (p.Asp10435Ala)
c.52799A>C (p.Asp17600Ala)
c.52796A>C (p.Asp17599Ala)
c.52229A>C (p.Asp17410Ala)
c.49571A>C (p.Asp16524Ala)
c.49490A>C (p.Asp16497Ala)
c.31253A>C (p.Asp10418Ala)
c.21107A>C (p.Asp7036Ala)
2g.178594036C>ACA349507197TTN,TTN-AS1c.50653G>T (p.Asp16885Tyr)
c.31738G>T (p.Asp10580Tyr)
c.31537G>T (p.Asp10513Tyr)
c.31162G>T (p.Asp10388Tyr)
c.58357G>T (p.Asp19453Tyr)
c.53434G>T (p.Asp17812Tyr)
n.597-3560C>A
n.3364+2722C>A
c.57454G>T (p.Asp19152Tyr)
c.31348G>T (p.Asp10450Tyr)
c.31207G>T (p.Asp10403Tyr)
c.57250G>T (p.Asp19084Tyr)
c.52648G>T (p.Asp17550Tyr)
c.52645G>T (p.Asp17549Tyr)
c.49687G>T (p.Asp16563Tyr)
c.31303G>T (p.Asp10435Tyr)
c.52798G>T (p.Asp17600Tyr)
c.52795G>T (p.Asp17599Tyr)
c.52228G>T (p.Asp17410Tyr)
c.49570G>T (p.Asp16524Tyr)
c.49489G>T (p.Asp16497Tyr)
c.31252G>T (p.Asp10418Tyr)
c.21106G>T (p.Asp7036Tyr)
2g.178594036C>GCA349507204TTN,TTN-AS1c.50653G>C (p.Asp16885His)
c.31738G>C (p.Asp10580His)
c.31537G>C (p.Asp10513His)
c.31162G>C (p.Asp10388His)
c.58357G>C (p.Asp19453His)
c.53434G>C (p.Asp17812His)
n.597-3560C>G
n.3364+2722C>G
c.57454G>C (p.Asp19152His)
c.31348G>C (p.Asp10450His)
c.31207G>C (p.Asp10403His)
c.57250G>C (p.Asp19084His)
c.52648G>C (p.Asp17550His)
c.52645G>C (p.Asp17549His)
c.49687G>C (p.Asp16563His)
c.31303G>C (p.Asp10435His)
c.52798G>C (p.Asp17600His)
c.52795G>C (p.Asp17599His)
c.52228G>C (p.Asp17410His)
c.49570G>C (p.Asp16524His)
c.49489G>C (p.Asp16497His)
c.31252G>C (p.Asp10418His)
c.21106G>C (p.Asp7036His)
2g.178594036C>TCA349507209TTN,TTN-AS1c.50653G>A (p.Asp16885Asn)
c.31738G>A (p.Asp10580Asn)
c.31537G>A (p.Asp10513Asn)
c.31162G>A (p.Asp10388Asn)
c.58357G>A (p.Asp19453Asn)
c.53434G>A (p.Asp17812Asn)
n.597-3560C>T
n.3364+2722C>T
c.57454G>A (p.Asp19152Asn)
c.31348G>A (p.Asp10450Asn)
c.31207G>A (p.Asp10403Asn)
c.57250G>A (p.Asp19084Asn)
c.52648G>A (p.Asp17550Asn)
c.52645G>A (p.Asp17549Asn)
c.49687G>A (p.Asp16563Asn)
c.31303G>A (p.Asp10435Asn)
c.52798G>A (p.Asp17600Asn)
c.52795G>A (p.Asp17599Asn)
c.52228G>A (p.Asp17410Asn)
c.49570G>A (p.Asp16524Asn)
c.49489G>A (p.Asp16497Asn)
c.31252G>A (p.Asp10418Asn)
c.21106G>A (p.Asp7036Asn)
2g.178594037T>ACA430267924TTN,TTN-AS1c.50652A>T (p.Ser16884=)
c.31737A>T (p.Ser10579=)
c.31536A>T (p.Ser10512=)
c.31161A>T (p.Ser10387=)
c.58356A>T (p.Ser19452=)
c.53433A>T (p.Ser17811=)
n.597-3559T>A
n.3364+2723T>A
c.57453A>T (p.Ser19151=)
c.31347A>T (p.Ser10449=)
c.31206A>T (p.Ser10402=)
c.57249A>T (p.Ser19083=)
c.52647A>T (p.Ser17549=)
c.52644A>T (p.Ser17548=)
c.49686A>T (p.Ser16562=)
c.31302A>T (p.Ser10434=)
c.52797A>T (p.Ser17599=)
c.52794A>T (p.Ser17598=)
c.52227A>T (p.Ser17409=)
c.49569A>T (p.Ser16523=)
c.49488A>T (p.Ser16496=)
c.31251A>T (p.Ser10417=)
c.21105A>T (p.Ser7035=)
2g.178594037T>CCA60971735TTN,TTN-AS1c.50652A>G (p.Ser16884=)
c.31737A>G (p.Ser10579=)
c.31536A>G (p.Ser10512=)
c.31161A>G (p.Ser10387=)
c.58356A>G (p.Ser19452=)
c.53433A>G (p.Ser17811=)
n.597-3559T>C
n.3364+2723T>C
c.57453A>G (p.Ser19151=)
c.31347A>G (p.Ser10449=)
c.31206A>G (p.Ser10402=)
c.57249A>G (p.Ser19083=)
c.52647A>G (p.Ser17549=)
c.52644A>G (p.Ser17548=)
c.49686A>G (p.Ser16562=)
c.31302A>G (p.Ser10434=)
c.52797A>G (p.Ser17599=)
c.52794A>G (p.Ser17598=)
c.52227A>G (p.Ser17409=)
c.49569A>G (p.Ser16523=)
c.49488A>G (p.Ser16496=)
c.31251A>G (p.Ser10417=)
c.21105A>G (p.Ser7035=)
 dbSNP
2g.178594037T>GCA1992876TTN,TTN-AS1c.50652A>C (p.Ser16884=)
c.31737A>C (p.Ser10579=)
c.31536A>C (p.Ser10512=)
c.31161A>C (p.Ser10387=)
c.58356A>C (p.Ser19452=)
c.53433A>C (p.Ser17811=)
n.597-3559T>G
n.3364+2723T>G
c.57453A>C (p.Ser19151=)
c.31347A>C (p.Ser10449=)
c.31206A>C (p.Ser10402=)
c.57249A>C (p.Ser19083=)
c.52647A>C (p.Ser17549=)
c.52644A>C (p.Ser17548=)
c.49686A>C (p.Ser16562=)
c.31302A>C (p.Ser10434=)
c.52797A>C (p.Ser17599=)
c.52794A>C (p.Ser17598=)
c.52227A>C (p.Ser17409=)
c.49569A>C (p.Ser16523=)
c.49488A>C (p.Ser16496=)
c.31251A>C (p.Ser10417=)
c.21105A>C (p.Ser7035=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched