Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178602335C>ACA349545212TTN,TTN-AS1c.47363G>T (p.Gly15788Val)
c.28448G>T (p.Gly9483Val)
c.28247G>T (p.Gly9416Val)
c.27872G>T (p.Gly9291Val)
c.55067G>T (p.Gly18356Val)
c.50144G>T (p.Gly16715Val)
n.682+4654C>A
n.3917+1668C>A
c.54164G>T (p.Gly18055Val)
c.28058G>T (p.Gly9353Val)
c.27917G>T (p.Gly9306Val)
c.53960G>T (p.Gly17987Val)
c.49358G>T (p.Gly16453Val)
c.49355G>T (p.Gly16452Val)
c.46397G>T (p.Gly15466Val)
c.28013G>T (p.Gly9338Val)
c.49508G>T (p.Gly16503Val)
c.49505G>T (p.Gly16502Val)
c.48938G>T (p.Gly16313Val)
c.46280G>T (p.Gly15427Val)
c.46199G>T (p.Gly15400Val)
c.27962G>T (p.Gly9321Val)
c.17816G>T (p.Gly5939Val)
2g.178602335C>GCA349545214TTN,TTN-AS1c.47363G>C (p.Gly15788Ala)
c.28448G>C (p.Gly9483Ala)
c.28247G>C (p.Gly9416Ala)
c.27872G>C (p.Gly9291Ala)
c.55067G>C (p.Gly18356Ala)
c.50144G>C (p.Gly16715Ala)
n.682+4654C>G
n.3917+1668C>G
c.54164G>C (p.Gly18055Ala)
c.28058G>C (p.Gly9353Ala)
c.27917G>C (p.Gly9306Ala)
c.53960G>C (p.Gly17987Ala)
c.49358G>C (p.Gly16453Ala)
c.49355G>C (p.Gly16452Ala)
c.46397G>C (p.Gly15466Ala)
c.28013G>C (p.Gly9338Ala)
c.49508G>C (p.Gly16503Ala)
c.49505G>C (p.Gly16502Ala)
c.48938G>C (p.Gly16313Ala)
c.46280G>C (p.Gly15427Ala)
c.46199G>C (p.Gly15400Ala)
c.27962G>C (p.Gly9321Ala)
c.17816G>C (p.Gly5939Ala)
 gnomAD v4
2g.178602335C>TCA349545222TTN,TTN-AS1c.47363G>A (p.Gly15788Asp)
c.28448G>A (p.Gly9483Asp)
c.28247G>A (p.Gly9416Asp)
c.27872G>A (p.Gly9291Asp)
c.55067G>A (p.Gly18356Asp)
c.50144G>A (p.Gly16715Asp)
n.682+4654C>T
n.3917+1668C>T
c.54164G>A (p.Gly18055Asp)
c.28058G>A (p.Gly9353Asp)
c.27917G>A (p.Gly9306Asp)
c.53960G>A (p.Gly17987Asp)
c.49358G>A (p.Gly16453Asp)
c.49355G>A (p.Gly16452Asp)
c.46397G>A (p.Gly15466Asp)
c.28013G>A (p.Gly9338Asp)
c.49508G>A (p.Gly16503Asp)
c.49505G>A (p.Gly16502Asp)
c.48938G>A (p.Gly16313Asp)
c.46280G>A (p.Gly15427Asp)
c.46199G>A (p.Gly15400Asp)
c.27962G>A (p.Gly9321Asp)
c.17816G>A (p.Gly5939Asp)
2g.178602336C>ACA349545226TTN,TTN-AS1c.47362G>T (p.Gly15788Cys)
c.28447G>T (p.Gly9483Cys)
c.28246G>T (p.Gly9416Cys)
c.27871G>T (p.Gly9291Cys)
c.55066G>T (p.Gly18356Cys)
c.50143G>T (p.Gly16715Cys)
n.682+4655C>A
n.3917+1669C>A
c.54163G>T (p.Gly18055Cys)
c.28057G>T (p.Gly9353Cys)
c.27916G>T (p.Gly9306Cys)
c.53959G>T (p.Gly17987Cys)
c.49357G>T (p.Gly16453Cys)
c.49354G>T (p.Gly16452Cys)
c.46396G>T (p.Gly15466Cys)
c.28012G>T (p.Gly9338Cys)
c.49507G>T (p.Gly16503Cys)
c.49504G>T (p.Gly16502Cys)
c.48937G>T (p.Gly16313Cys)
c.46279G>T (p.Gly15427Cys)
c.46198G>T (p.Gly15400Cys)
c.27961G>T (p.Gly9321Cys)
c.17815G>T (p.Gly5939Cys)
2g.178602336C=CA1310544480TTN,TTN-AS1c.47362G= (p.Gly15788=)
c.28447G= (p.Gly9483=)
c.28246G= (p.Gly9416=)
c.27871G= (p.Gly9291=)
c.55066G= (p.Gly18356=)
c.50143G= (p.Gly16715=)
n.682+4655C=
n.3917+1669C=
c.54163G= (p.Gly18055=)
c.28057G= (p.Gly9353=)
c.27916G= (p.Gly9306=)
c.53959G= (p.Gly17987=)
c.49357G= (p.Gly16453=)
c.49354G= (p.Gly16452=)
c.46396G= (p.Gly15466=)
c.28012G= (p.Gly9338=)
c.49507G= (p.Gly16503=)
c.49504G= (p.Gly16502=)
c.48937G= (p.Gly16313=)
c.46279G= (p.Gly15427=)
c.46198G= (p.Gly15400=)
c.27961G= (p.Gly9321=)
c.17815G= (p.Gly5939=)
2g.178602336C>GCA349545230TTN,TTN-AS1c.47362G>C (p.Gly15788Arg)
c.28447G>C (p.Gly9483Arg)
c.28246G>C (p.Gly9416Arg)
c.27871G>C (p.Gly9291Arg)
c.55066G>C (p.Gly18356Arg)
c.50143G>C (p.Gly16715Arg)
n.682+4655C>G
n.3917+1669C>G
c.54163G>C (p.Gly18055Arg)
c.28057G>C (p.Gly9353Arg)
c.27916G>C (p.Gly9306Arg)
c.53959G>C (p.Gly17987Arg)
c.49357G>C (p.Gly16453Arg)
c.49354G>C (p.Gly16452Arg)
c.46396G>C (p.Gly15466Arg)
c.28012G>C (p.Gly9338Arg)
c.49507G>C (p.Gly16503Arg)
c.49504G>C (p.Gly16502Arg)
c.48937G>C (p.Gly16313Arg)
c.46279G>C (p.Gly15427Arg)
c.46198G>C (p.Gly15400Arg)
c.27961G>C (p.Gly9321Arg)
c.17815G>C (p.Gly5939Arg)
2g.178602336C>TCA349545234TTN,TTN-AS1c.47362G>A (p.Gly15788Ser)
c.28447G>A (p.Gly9483Ser)
c.28246G>A (p.Gly9416Ser)
c.27871G>A (p.Gly9291Ser)
c.55066G>A (p.Gly18356Ser)
c.50143G>A (p.Gly16715Ser)
n.682+4655C>T
n.3917+1669C>T
c.54163G>A (p.Gly18055Ser)
c.28057G>A (p.Gly9353Ser)
c.27916G>A (p.Gly9306Ser)
c.53959G>A (p.Gly17987Ser)
c.49357G>A (p.Gly16453Ser)
c.49354G>A (p.Gly16452Ser)
c.46396G>A (p.Gly15466Ser)
c.28012G>A (p.Gly9338Ser)
c.49507G>A (p.Gly16503Ser)
c.49504G>A (p.Gly16502Ser)
c.48937G>A (p.Gly16313Ser)
c.46279G>A (p.Gly15427Ser)
c.46198G>A (p.Gly15400Ser)
c.27961G>A (p.Gly9321Ser)
c.17815G>A (p.Gly5939Ser)
 dbSNP
2g.178602337A>CCA430269340TTN,TTN-AS1c.47361T>G (p.Ala15787=)
c.28446T>G (p.Ala9482=)
c.28245T>G (p.Ala9415=)
c.27870T>G (p.Ala9290=)
c.55065T>G (p.Ala18355=)
c.50142T>G (p.Ala16714=)
n.682+4656A>C
n.3917+1670A>C
c.54162T>G (p.Ala18054=)
c.28056T>G (p.Ala9352=)
c.27915T>G (p.Ala9305=)
c.53958T>G (p.Ala17986=)
c.49356T>G (p.Ala16452=)
c.49353T>G (p.Ala16451=)
c.46395T>G (p.Ala15465=)
c.28011T>G (p.Ala9337=)
c.49506T>G (p.Ala16502=)
c.49503T>G (p.Ala16501=)
c.48936T>G (p.Ala16312=)
c.46278T>G (p.Ala15426=)
c.46197T>G (p.Ala15399=)
c.27960T>G (p.Ala9320=)
c.17814T>G (p.Ala5938=)
2g.178602337A>GCA430269341TTN,TTN-AS1c.47361T>C (p.Ala15787=)
c.28446T>C (p.Ala9482=)
c.28245T>C (p.Ala9415=)
c.27870T>C (p.Ala9290=)
c.55065T>C (p.Ala18355=)
c.50142T>C (p.Ala16714=)
n.682+4656A>G
n.3917+1670A>G
c.54162T>C (p.Ala18054=)
c.28056T>C (p.Ala9352=)
c.27915T>C (p.Ala9305=)
c.53958T>C (p.Ala17986=)
c.49356T>C (p.Ala16452=)
c.49353T>C (p.Ala16451=)
c.46395T>C (p.Ala15465=)
c.28011T>C (p.Ala9337=)
c.49506T>C (p.Ala16502=)
c.49503T>C (p.Ala16501=)
c.48936T>C (p.Ala16312=)
c.46278T>C (p.Ala15426=)
c.46197T>C (p.Ala15399=)
c.27960T>C (p.Ala9320=)
c.17814T>C (p.Ala5938=)
2g.178602337A>TCA430269343TTN,TTN-AS1c.47361T>A (p.Ala15787=)
c.28446T>A (p.Ala9482=)
c.28245T>A (p.Ala9415=)
c.27870T>A (p.Ala9290=)
c.55065T>A (p.Ala18355=)
c.50142T>A (p.Ala16714=)
n.682+4656A>T
n.3917+1670A>T
c.54162T>A (p.Ala18054=)
c.28056T>A (p.Ala9352=)
c.27915T>A (p.Ala9305=)
c.53958T>A (p.Ala17986=)
c.49356T>A (p.Ala16452=)
c.49353T>A (p.Ala16451=)
c.46395T>A (p.Ala15465=)
c.28011T>A (p.Ala9337=)
c.49506T>A (p.Ala16502=)
c.49503T>A (p.Ala16501=)
c.48936T>A (p.Ala16312=)
c.46278T>A (p.Ala15426=)
c.46197T>A (p.Ala15399=)
c.27960T>A (p.Ala9320=)
c.17814T>A (p.Ala5938=)
2g.178602338G>ACA60978389TTN,TTN-AS1c.47360C>T (p.Ala15787Val)
c.28445C>T (p.Ala9482Val)
c.28244C>T (p.Ala9415Val)
c.27869C>T (p.Ala9290Val)
c.55064C>T (p.Ala18355Val)
c.50141C>T (p.Ala16714Val)
n.682+4657G>A
n.3917+1671G>A
c.54161C>T (p.Ala18054Val)
c.28055C>T (p.Ala9352Val)
c.27914C>T (p.Ala9305Val)
c.53957C>T (p.Ala17986Val)
c.49355C>T (p.Ala16452Val)
c.49352C>T (p.Ala16451Val)
c.46394C>T (p.Ala15465Val)
c.28010C>T (p.Ala9337Val)
c.49505C>T (p.Ala16502Val)
c.49502C>T (p.Ala16501Val)
c.48935C>T (p.Ala16312Val)
c.46277C>T (p.Ala15426Val)
c.46196C>T (p.Ala15399Val)
c.27959C>T (p.Ala9320Val)
c.17813C>T (p.Ala5938Val)
 dbSNP gnomAD v4
2g.178602338G>CCA349545240TTN,TTN-AS1c.47360C>G (p.Ala15787Gly)
c.28445C>G (p.Ala9482Gly)
c.28244C>G (p.Ala9415Gly)
c.27869C>G (p.Ala9290Gly)
c.55064C>G (p.Ala18355Gly)
c.50141C>G (p.Ala16714Gly)
n.682+4657G>C
n.3917+1671G>C
c.54161C>G (p.Ala18054Gly)
c.28055C>G (p.Ala9352Gly)
c.27914C>G (p.Ala9305Gly)
c.53957C>G (p.Ala17986Gly)
c.49355C>G (p.Ala16452Gly)
c.49352C>G (p.Ala16451Gly)
c.46394C>G (p.Ala15465Gly)
c.28010C>G (p.Ala9337Gly)
c.49505C>G (p.Ala16502Gly)
c.49502C>G (p.Ala16501Gly)
c.48935C>G (p.Ala16312Gly)
c.46277C>G (p.Ala15426Gly)
c.46196C>G (p.Ala15399Gly)
c.27959C>G (p.Ala9320Gly)
c.17813C>G (p.Ala5938Gly)
2g.178602338G=CA1310544481TTN,TTN-AS1c.47360C= (p.Ala15787=)
c.28445C= (p.Ala9482=)
c.28244C= (p.Ala9415=)
c.27869C= (p.Ala9290=)
c.55064C= (p.Ala18355=)
c.50141C= (p.Ala16714=)
n.682+4657G=
n.3917+1671G=
c.54161C= (p.Ala18054=)
c.28055C= (p.Ala9352=)
c.27914C= (p.Ala9305=)
c.53957C= (p.Ala17986=)
c.49355C= (p.Ala16452=)
c.49352C= (p.Ala16451=)
c.46394C= (p.Ala15465=)
c.28010C= (p.Ala9337=)
c.49505C= (p.Ala16502=)
c.49502C= (p.Ala16501=)
c.48935C= (p.Ala16312=)
c.46277C= (p.Ala15426=)
c.46196C= (p.Ala15399=)
c.27959C= (p.Ala9320=)
c.17813C= (p.Ala5938=)
2g.178602338G>TCA349545241TTN,TTN-AS1c.47360C>A (p.Ala15787Asp)
c.28445C>A (p.Ala9482Asp)
c.28244C>A (p.Ala9415Asp)
c.27869C>A (p.Ala9290Asp)
c.55064C>A (p.Ala18355Asp)
c.50141C>A (p.Ala16714Asp)
n.682+4657G>T
n.3917+1671G>T
c.54161C>A (p.Ala18054Asp)
c.28055C>A (p.Ala9352Asp)
c.27914C>A (p.Ala9305Asp)
c.53957C>A (p.Ala17986Asp)
c.49355C>A (p.Ala16452Asp)
c.49352C>A (p.Ala16451Asp)
c.46394C>A (p.Ala15465Asp)
c.28010C>A (p.Ala9337Asp)
c.49505C>A (p.Ala16502Asp)
c.49502C>A (p.Ala16501Asp)
c.48935C>A (p.Ala16312Asp)
c.46277C>A (p.Ala15426Asp)
c.46196C>A (p.Ala15399Asp)
c.27959C>A (p.Ala9320Asp)
c.17813C>A (p.Ala5938Asp)
2g.178602339C>ACA349545247TTN,TTN-AS1c.47359G>T (p.Ala15787Ser)
c.28444G>T (p.Ala9482Ser)
c.28243G>T (p.Ala9415Ser)
c.27868G>T (p.Ala9290Ser)
c.55063G>T (p.Ala18355Ser)
c.50140G>T (p.Ala16714Ser)
n.682+4658C>A
n.3917+1672C>A
c.54160G>T (p.Ala18054Ser)
c.28054G>T (p.Ala9352Ser)
c.27913G>T (p.Ala9305Ser)
c.53956G>T (p.Ala17986Ser)
c.49354G>T (p.Ala16452Ser)
c.49351G>T (p.Ala16451Ser)
c.46393G>T (p.Ala15465Ser)
c.28009G>T (p.Ala9337Ser)
c.49504G>T (p.Ala16502Ser)
c.49501G>T (p.Ala16501Ser)
c.48934G>T (p.Ala16312Ser)
c.46276G>T (p.Ala15426Ser)
c.46195G>T (p.Ala15399Ser)
c.27958G>T (p.Ala9320Ser)
c.17812G>T (p.Ala5938Ser)
2g.178602339C=CA1310544482TTN,TTN-AS1c.47359G= (p.Ala15787=)
c.28444G= (p.Ala9482=)
c.28243G= (p.Ala9415=)
c.27868G= (p.Ala9290=)
c.55063G= (p.Ala18355=)
c.50140G= (p.Ala16714=)
n.682+4658C=
n.3917+1672C=
c.54160G= (p.Ala18054=)
c.28054G= (p.Ala9352=)
c.27913G= (p.Ala9305=)
c.53956G= (p.Ala17986=)
c.49354G= (p.Ala16452=)
c.49351G= (p.Ala16451=)
c.46393G= (p.Ala15465=)
c.28009G= (p.Ala9337=)
c.49504G= (p.Ala16502=)
c.49501G= (p.Ala16501=)
c.48934G= (p.Ala16312=)
c.46276G= (p.Ala15426=)
c.46195G= (p.Ala15399=)
c.27958G= (p.Ala9320=)
c.17812G= (p.Ala5938=)
2g.178602339C>GCA349545250TTN,TTN-AS1c.47359G>C (p.Ala15787Pro)
c.28444G>C (p.Ala9482Pro)
c.28243G>C (p.Ala9415Pro)
c.27868G>C (p.Ala9290Pro)
c.55063G>C (p.Ala18355Pro)
c.50140G>C (p.Ala16714Pro)
n.682+4658C>G
n.3917+1672C>G
c.54160G>C (p.Ala18054Pro)
c.28054G>C (p.Ala9352Pro)
c.27913G>C (p.Ala9305Pro)
c.53956G>C (p.Ala17986Pro)
c.49354G>C (p.Ala16452Pro)
c.49351G>C (p.Ala16451Pro)
c.46393G>C (p.Ala15465Pro)
c.28009G>C (p.Ala9337Pro)
c.49504G>C (p.Ala16502Pro)
c.49501G>C (p.Ala16501Pro)
c.48934G>C (p.Ala16312Pro)
c.46276G>C (p.Ala15426Pro)
c.46195G>C (p.Ala15399Pro)
c.27958G>C (p.Ala9320Pro)
c.17812G>C (p.Ala5938Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.178602339C>TCA349545255TTN,TTN-AS1c.47359G>A (p.Ala15787Thr)
c.28444G>A (p.Ala9482Thr)
c.28243G>A (p.Ala9415Thr)
c.27868G>A (p.Ala9290Thr)
c.55063G>A (p.Ala18355Thr)
c.50140G>A (p.Ala16714Thr)
n.682+4658C>T
n.3917+1672C>T
c.54160G>A (p.Ala18054Thr)
c.28054G>A (p.Ala9352Thr)
c.27913G>A (p.Ala9305Thr)
c.53956G>A (p.Ala17986Thr)
c.49354G>A (p.Ala16452Thr)
c.49351G>A (p.Ala16451Thr)
c.46393G>A (p.Ala15465Thr)
c.28009G>A (p.Ala9337Thr)
c.49504G>A (p.Ala16502Thr)
c.49501G>A (p.Ala16501Thr)
c.48934G>A (p.Ala16312Thr)
c.46276G>A (p.Ala15426Thr)
c.46195G>A (p.Ala15399Thr)
c.27958G>A (p.Ala9320Thr)
c.17812G>A (p.Ala5938Thr)
2g.178602340T>ACA349545261TTN,TTN-AS1c.47358A>T (p.Glu15786Asp)
c.28443A>T (p.Glu9481Asp)
c.28242A>T (p.Glu9414Asp)
c.27867A>T (p.Glu9289Asp)
c.55062A>T (p.Glu18354Asp)
c.50139A>T (p.Glu16713Asp)
n.682+4659T>A
n.3917+1673T>A
c.54159A>T (p.Glu18053Asp)
c.28053A>T (p.Glu9351Asp)
c.27912A>T (p.Glu9304Asp)
c.53955A>T (p.Glu17985Asp)
c.49353A>T (p.Glu16451Asp)
c.49350A>T (p.Glu16450Asp)
c.46392A>T (p.Glu15464Asp)
c.28008A>T (p.Glu9336Asp)
c.49503A>T (p.Glu16501Asp)
c.49500A>T (p.Glu16500Asp)
c.48933A>T (p.Glu16311Asp)
c.46275A>T (p.Glu15425Asp)
c.46194A>T (p.Glu15398Asp)
c.27957A>T (p.Glu9319Asp)
c.17811A>T (p.Glu5937Asp)
2g.178602340T>CCA430269347TTN,TTN-AS1c.47358A>G (p.Glu15786=)
c.28443A>G (p.Glu9481=)
c.28242A>G (p.Glu9414=)
c.27867A>G (p.Glu9289=)
c.55062A>G (p.Glu18354=)
c.50139A>G (p.Glu16713=)
n.682+4659T>C
n.3917+1673T>C
c.54159A>G (p.Glu18053=)
c.28053A>G (p.Glu9351=)
c.27912A>G (p.Glu9304=)
c.53955A>G (p.Glu17985=)
c.49353A>G (p.Glu16451=)
c.49350A>G (p.Glu16450=)
c.46392A>G (p.Glu15464=)
c.28008A>G (p.Glu9336=)
c.49503A>G (p.Glu16501=)
c.49500A>G (p.Glu16500=)
c.48933A>G (p.Glu16311=)
c.46275A>G (p.Glu15425=)
c.46194A>G (p.Glu15398=)
c.27957A>G (p.Glu9319=)
c.17811A>G (p.Glu5937=)
 ClinVar dbSNP
2g.178602340T>GCA349545265TTN,TTN-AS1c.47358A>C (p.Glu15786Asp)
c.28443A>C (p.Glu9481Asp)
c.28242A>C (p.Glu9414Asp)
c.27867A>C (p.Glu9289Asp)
c.55062A>C (p.Glu18354Asp)
c.50139A>C (p.Glu16713Asp)
n.682+4659T>G
n.3917+1673T>G
c.54159A>C (p.Glu18053Asp)
c.28053A>C (p.Glu9351Asp)
c.27912A>C (p.Glu9304Asp)
c.53955A>C (p.Glu17985Asp)
c.49353A>C (p.Glu16451Asp)
c.49350A>C (p.Glu16450Asp)
c.46392A>C (p.Glu15464Asp)
c.28008A>C (p.Glu9336Asp)
c.49503A>C (p.Glu16501Asp)
c.49500A>C (p.Glu16500Asp)
c.48933A>C (p.Glu16311Asp)
c.46275A>C (p.Glu15425Asp)
c.46194A>C (p.Glu15398Asp)
c.27957A>C (p.Glu9319Asp)
c.17811A>C (p.Glu5937Asp)
2g.178602341T>ACA349545270TTN,TTN-AS1c.47357A>T (p.Glu15786Val)
c.28442A>T (p.Glu9481Val)
c.28241A>T (p.Glu9414Val)
c.27866A>T (p.Glu9289Val)
c.55061A>T (p.Glu18354Val)
c.50138A>T (p.Glu16713Val)
n.682+4660T>A
n.3917+1674T>A
c.54158A>T (p.Glu18053Val)
c.28052A>T (p.Glu9351Val)
c.27911A>T (p.Glu9304Val)
c.53954A>T (p.Glu17985Val)
c.49352A>T (p.Glu16451Val)
c.49349A>T (p.Glu16450Val)
c.46391A>T (p.Glu15464Val)
c.28007A>T (p.Glu9336Val)
c.49502A>T (p.Glu16501Val)
c.49499A>T (p.Glu16500Val)
c.48932A>T (p.Glu16311Val)
c.46274A>T (p.Glu15425Val)
c.46193A>T (p.Glu15398Val)
c.27956A>T (p.Glu9319Val)
c.17810A>T (p.Glu5937Val)
2g.178602341T>CCA349545272TTN,TTN-AS1c.47357A>G (p.Glu15786Gly)
c.28442A>G (p.Glu9481Gly)
c.28241A>G (p.Glu9414Gly)
c.27866A>G (p.Glu9289Gly)
c.55061A>G (p.Glu18354Gly)
c.50138A>G (p.Glu16713Gly)
n.682+4660T>C
n.3917+1674T>C
c.54158A>G (p.Glu18053Gly)
c.28052A>G (p.Glu9351Gly)
c.27911A>G (p.Glu9304Gly)
c.53954A>G (p.Glu17985Gly)
c.49352A>G (p.Glu16451Gly)
c.49349A>G (p.Glu16450Gly)
c.46391A>G (p.Glu15464Gly)
c.28007A>G (p.Glu9336Gly)
c.49502A>G (p.Glu16501Gly)
c.49499A>G (p.Glu16500Gly)
c.48932A>G (p.Glu16311Gly)
c.46274A>G (p.Glu15425Gly)
c.46193A>G (p.Glu15398Gly)
c.27956A>G (p.Glu9319Gly)
c.17810A>G (p.Glu5937Gly)
 gnomAD v4
2g.178602341T>GCA349545271TTN,TTN-AS1c.47357A>C (p.Glu15786Ala)
c.28442A>C (p.Glu9481Ala)
c.28241A>C (p.Glu9414Ala)
c.27866A>C (p.Glu9289Ala)
c.55061A>C (p.Glu18354Ala)
c.50138A>C (p.Glu16713Ala)
n.682+4660T>G
n.3917+1674T>G
c.54158A>C (p.Glu18053Ala)
c.28052A>C (p.Glu9351Ala)
c.27911A>C (p.Glu9304Ala)
c.53954A>C (p.Glu17985Ala)
c.49352A>C (p.Glu16451Ala)
c.49349A>C (p.Glu16450Ala)
c.46391A>C (p.Glu15464Ala)
c.28007A>C (p.Glu9336Ala)
c.49502A>C (p.Glu16501Ala)
c.49499A>C (p.Glu16500Ala)
c.48932A>C (p.Glu16311Ala)
c.46274A>C (p.Glu15425Ala)
c.46193A>C (p.Glu15398Ala)
c.27956A>C (p.Glu9319Ala)
c.17810A>C (p.Glu5937Ala)
2g.178602342C>ACA349545276TTN,TTN-AS1c.47356G>T (p.Glu15786Ter)
c.28441G>T (p.Glu9481Ter)
c.28240G>T (p.Glu9414Ter)
c.27865G>T (p.Glu9289Ter)
c.55060G>T (p.Glu18354Ter)
c.50137G>T (p.Glu16713Ter)
n.682+4661C>A
n.3917+1675C>A
c.54157G>T (p.Glu18053Ter)
c.28051G>T (p.Glu9351Ter)
c.27910G>T (p.Glu9304Ter)
c.53953G>T (p.Glu17985Ter)
c.49351G>T (p.Glu16451Ter)
c.49348G>T (p.Glu16450Ter)
c.46390G>T (p.Glu15464Ter)
c.28006G>T (p.Glu9336Ter)
c.49501G>T (p.Glu16501Ter)
c.49498G>T (p.Glu16500Ter)
c.48931G>T (p.Glu16311Ter)
c.46273G>T (p.Glu15425Ter)
c.46192G>T (p.Glu15398Ter)
c.27955G>T (p.Glu9319Ter)
c.17809G>T (p.Glu5937Ter)
2g.178602342C=CA1310544483TTN,TTN-AS1c.47356G= (p.Glu15786=)
c.28441G= (p.Glu9481=)
c.28240G= (p.Glu9414=)
c.27865G= (p.Glu9289=)
c.55060G= (p.Glu18354=)
c.50137G= (p.Glu16713=)
n.682+4661C=
n.3917+1675C=
c.54157G= (p.Glu18053=)
c.28051G= (p.Glu9351=)
c.27910G= (p.Glu9304=)
c.53953G= (p.Glu17985=)
c.49351G= (p.Glu16451=)
c.49348G= (p.Glu16450=)
c.46390G= (p.Glu15464=)
c.28006G= (p.Glu9336=)
c.49501G= (p.Glu16501=)
c.49498G= (p.Glu16500=)
c.48931G= (p.Glu16311=)
c.46273G= (p.Glu15425=)
c.46192G= (p.Glu15398=)
c.27955G= (p.Glu9319=)
c.17809G= (p.Glu5937=)
2g.178602342C>GCA349545283TTN,TTN-AS1c.47356G>C (p.Glu15786Gln)
c.28441G>C (p.Glu9481Gln)
c.28240G>C (p.Glu9414Gln)
c.27865G>C (p.Glu9289Gln)
c.55060G>C (p.Glu18354Gln)
c.50137G>C (p.Glu16713Gln)
n.682+4661C>G
n.3917+1675C>G
c.54157G>C (p.Glu18053Gln)
c.28051G>C (p.Glu9351Gln)
c.27910G>C (p.Glu9304Gln)
c.53953G>C (p.Glu17985Gln)
c.49351G>C (p.Glu16451Gln)
c.49348G>C (p.Glu16450Gln)
c.46390G>C (p.Glu15464Gln)
c.28006G>C (p.Glu9336Gln)
c.49501G>C (p.Glu16501Gln)
c.49498G>C (p.Glu16500Gln)
c.48931G>C (p.Glu16311Gln)
c.46273G>C (p.Glu15425Gln)
c.46192G>C (p.Glu15398Gln)
c.27955G>C (p.Glu9319Gln)
c.17809G>C (p.Glu5937Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178602342C>TCA349545292TTN,TTN-AS1c.47356G>A (p.Glu15786Lys)
c.28441G>A (p.Glu9481Lys)
c.28240G>A (p.Glu9414Lys)
c.27865G>A (p.Glu9289Lys)
c.55060G>A (p.Glu18354Lys)
c.50137G>A (p.Glu16713Lys)
n.682+4661C>T
n.3917+1675C>T
c.54157G>A (p.Glu18053Lys)
c.28051G>A (p.Glu9351Lys)
c.27910G>A (p.Glu9304Lys)
c.53953G>A (p.Glu17985Lys)
c.49351G>A (p.Glu16451Lys)
c.49348G>A (p.Glu16450Lys)
c.46390G>A (p.Glu15464Lys)
c.28006G>A (p.Glu9336Lys)
c.49501G>A (p.Glu16501Lys)
c.49498G>A (p.Glu16500Lys)
c.48931G>A (p.Glu16311Lys)
c.46273G>A (p.Glu15425Lys)
c.46192G>A (p.Glu15398Lys)
c.27955G>A (p.Glu9319Lys)
c.17809G>A (p.Glu5937Lys)
 ClinVar dbSNP
2g.178602343A=CA1310544484TTN,TTN-AS1c.47355T= (p.Asn15785=)
c.28440T= (p.Asn9480=)
c.28239T= (p.Asn9413=)
c.27864T= (p.Asn9288=)
c.55059T= (p.Asn18353=)
c.50136T= (p.Asn16712=)
n.682+4662A=
n.3917+1676A=
c.54156T= (p.Asn18052=)
c.28050T= (p.Asn9350=)
c.27909T= (p.Asn9303=)
c.53952T= (p.Asn17984=)
c.49350T= (p.Asn16450=)
c.49347T= (p.Asn16449=)
c.46389T= (p.Asn15463=)
c.28005T= (p.Asn9335=)
c.49500T= (p.Asn16500=)
c.49497T= (p.Asn16499=)
c.48930T= (p.Asn16310=)
c.46272T= (p.Asn15424=)
c.46191T= (p.Asn15397=)
c.27954T= (p.Asn9318=)
c.17808T= (p.Asn5936=)
2g.178602343A>CCA349545296TTN,TTN-AS1c.47355T>G (p.Asn15785Lys)
c.28440T>G (p.Asn9480Lys)
c.28239T>G (p.Asn9413Lys)
c.27864T>G (p.Asn9288Lys)
c.55059T>G (p.Asn18353Lys)
c.50136T>G (p.Asn16712Lys)
n.682+4662A>C
n.3917+1676A>C
c.54156T>G (p.Asn18052Lys)
c.28050T>G (p.Asn9350Lys)
c.27909T>G (p.Asn9303Lys)
c.53952T>G (p.Asn17984Lys)
c.49350T>G (p.Asn16450Lys)
c.49347T>G (p.Asn16449Lys)
c.46389T>G (p.Asn15463Lys)
c.28005T>G (p.Asn9335Lys)
c.49500T>G (p.Asn16500Lys)
c.49497T>G (p.Asn16499Lys)
c.48930T>G (p.Asn16310Lys)
c.46272T>G (p.Asn15424Lys)
c.46191T>G (p.Asn15397Lys)
c.27954T>G (p.Asn9318Lys)
c.17808T>G (p.Asn5936Lys)
2g.178602343A>GCA1993540TTN,TTN-AS1c.47355T>C (p.Asn15785=)
c.28440T>C (p.Asn9480=)
c.28239T>C (p.Asn9413=)
c.27864T>C (p.Asn9288=)
c.55059T>C (p.Asn18353=)
c.50136T>C (p.Asn16712=)
n.682+4662A>G
n.3917+1676A>G
c.54156T>C (p.Asn18052=)
c.28050T>C (p.Asn9350=)
c.27909T>C (p.Asn9303=)
c.53952T>C (p.Asn17984=)
c.49350T>C (p.Asn16450=)
c.49347T>C (p.Asn16449=)
c.46389T>C (p.Asn15463=)
c.28005T>C (p.Asn9335=)
c.49500T>C (p.Asn16500=)
c.49497T>C (p.Asn16499=)
c.48930T>C (p.Asn16310=)
c.46272T>C (p.Asn15424=)
c.46191T>C (p.Asn15397=)
c.27954T>C (p.Asn9318=)
c.17808T>C (p.Asn5936=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178602343A>TCA349545305TTN,TTN-AS1c.47355T>A (p.Asn15785Lys)
c.28440T>A (p.Asn9480Lys)
c.28239T>A (p.Asn9413Lys)
c.27864T>A (p.Asn9288Lys)
c.55059T>A (p.Asn18353Lys)
c.50136T>A (p.Asn16712Lys)
n.682+4662A>T
n.3917+1676A>T
c.54156T>A (p.Asn18052Lys)
c.28050T>A (p.Asn9350Lys)
c.27909T>A (p.Asn9303Lys)
c.53952T>A (p.Asn17984Lys)
c.49350T>A (p.Asn16450Lys)
c.49347T>A (p.Asn16449Lys)
c.46389T>A (p.Asn15463Lys)
c.28005T>A (p.Asn9335Lys)
c.49500T>A (p.Asn16500Lys)
c.49497T>A (p.Asn16499Lys)
c.48930T>A (p.Asn16310Lys)
c.46272T>A (p.Asn15424Lys)
c.46191T>A (p.Asn15397Lys)
c.27954T>A (p.Asn9318Lys)
c.17808T>A (p.Asn5936Lys)
2g.178602344T>ACA349545313TTN,TTN-AS1c.47354A>T (p.Asn15785Ile)
c.28439A>T (p.Asn9480Ile)
c.28238A>T (p.Asn9413Ile)
c.27863A>T (p.Asn9288Ile)
c.55058A>T (p.Asn18353Ile)
c.50135A>T (p.Asn16712Ile)
n.682+4663T>A
n.3917+1677T>A
c.54155A>T (p.Asn18052Ile)
c.28049A>T (p.Asn9350Ile)
c.27908A>T (p.Asn9303Ile)
c.53951A>T (p.Asn17984Ile)
c.49349A>T (p.Asn16450Ile)
c.49346A>T (p.Asn16449Ile)
c.46388A>T (p.Asn15463Ile)
c.28004A>T (p.Asn9335Ile)
c.49499A>T (p.Asn16500Ile)
c.49496A>T (p.Asn16499Ile)
c.48929A>T (p.Asn16310Ile)
c.46271A>T (p.Asn15424Ile)
c.46190A>T (p.Asn15397Ile)
c.27953A>T (p.Asn9318Ile)
c.17807A>T (p.Asn5936Ile)
2g.178602344T>CCA1993541TTN,TTN-AS1c.47354A>G (p.Asn15785Ser)
c.28439A>G (p.Asn9480Ser)
c.28238A>G (p.Asn9413Ser)
c.27863A>G (p.Asn9288Ser)
c.55058A>G (p.Asn18353Ser)
c.50135A>G (p.Asn16712Ser)
n.682+4663T>C
n.3917+1677T>C
c.54155A>G (p.Asn18052Ser)
c.28049A>G (p.Asn9350Ser)
c.27908A>G (p.Asn9303Ser)
c.53951A>G (p.Asn17984Ser)
c.49349A>G (p.Asn16450Ser)
c.49346A>G (p.Asn16449Ser)
c.46388A>G (p.Asn15463Ser)
c.28004A>G (p.Asn9335Ser)
c.49499A>G (p.Asn16500Ser)
c.49496A>G (p.Asn16499Ser)
c.48929A>G (p.Asn16310Ser)
c.46271A>G (p.Asn15424Ser)
c.46190A>G (p.Asn15397Ser)
c.27953A>G (p.Asn9318Ser)
c.17807A>G (p.Asn5936Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178602344T>GCA349545318TTN,TTN-AS1c.47354A>C (p.Asn15785Thr)
c.28439A>C (p.Asn9480Thr)
c.28238A>C (p.Asn9413Thr)
c.27863A>C (p.Asn9288Thr)
c.55058A>C (p.Asn18353Thr)
c.50135A>C (p.Asn16712Thr)
n.682+4663T>G
n.3917+1677T>G
c.54155A>C (p.Asn18052Thr)
c.28049A>C (p.Asn9350Thr)
c.27908A>C (p.Asn9303Thr)
c.53951A>C (p.Asn17984Thr)
c.49349A>C (p.Asn16450Thr)
c.49346A>C (p.Asn16449Thr)
c.46388A>C (p.Asn15463Thr)
c.28004A>C (p.Asn9335Thr)
c.49499A>C (p.Asn16500Thr)
c.49496A>C (p.Asn16499Thr)
c.48929A>C (p.Asn16310Thr)
c.46271A>C (p.Asn15424Thr)
c.46190A>C (p.Asn15397Thr)
c.27953A>C (p.Asn9318Thr)
c.17807A>C (p.Asn5936Thr)
2g.178602344T=CA1310544485TTN,TTN-AS1c.47354A= (p.Asn15785=)
c.28439A= (p.Asn9480=)
c.28238A= (p.Asn9413=)
c.27863A= (p.Asn9288=)
c.55058A= (p.Asn18353=)
c.50135A= (p.Asn16712=)
n.682+4663T=
n.3917+1677T=
c.54155A= (p.Asn18052=)
c.28049A= (p.Asn9350=)
c.27908A= (p.Asn9303=)
c.53951A= (p.Asn17984=)
c.49349A= (p.Asn16450=)
c.49346A= (p.Asn16449=)
c.46388A= (p.Asn15463=)
c.28004A= (p.Asn9335=)
c.49499A= (p.Asn16500=)
c.49496A= (p.Asn16499=)
c.48929A= (p.Asn16310=)
c.46271A= (p.Asn15424=)
c.46190A= (p.Asn15397=)
c.27953A= (p.Asn9318=)
c.17807A= (p.Asn5936=)
2g.178602345T>ACA349545323TTN,TTN-AS1c.47353A>T (p.Asn15785Tyr)
c.28438A>T (p.Asn9480Tyr)
c.28237A>T (p.Asn9413Tyr)
c.27862A>T (p.Asn9288Tyr)
c.55057A>T (p.Asn18353Tyr)
c.50134A>T (p.Asn16712Tyr)
n.682+4664T>A
n.3917+1678T>A
c.54154A>T (p.Asn18052Tyr)
c.28048A>T (p.Asn9350Tyr)
c.27907A>T (p.Asn9303Tyr)
c.53950A>T (p.Asn17984Tyr)
c.49348A>T (p.Asn16450Tyr)
c.49345A>T (p.Asn16449Tyr)
c.46387A>T (p.Asn15463Tyr)
c.28003A>T (p.Asn9335Tyr)
c.49498A>T (p.Asn16500Tyr)
c.49495A>T (p.Asn16499Tyr)
c.48928A>T (p.Asn16310Tyr)
c.46270A>T (p.Asn15424Tyr)
c.46189A>T (p.Asn15397Tyr)
c.27952A>T (p.Asn9318Tyr)
c.17806A>T (p.Asn5936Tyr)
2g.178602345T>CCA349545326TTN,TTN-AS1c.47353A>G (p.Asn15785Asp)
c.28438A>G (p.Asn9480Asp)
c.28237A>G (p.Asn9413Asp)
c.27862A>G (p.Asn9288Asp)
c.55057A>G (p.Asn18353Asp)
c.50134A>G (p.Asn16712Asp)
n.682+4664T>C
n.3917+1678T>C
c.54154A>G (p.Asn18052Asp)
c.28048A>G (p.Asn9350Asp)
c.27907A>G (p.Asn9303Asp)
c.53950A>G (p.Asn17984Asp)
c.49348A>G (p.Asn16450Asp)
c.49345A>G (p.Asn16449Asp)
c.46387A>G (p.Asn15463Asp)
c.28003A>G (p.Asn9335Asp)
c.49498A>G (p.Asn16500Asp)
c.49495A>G (p.Asn16499Asp)
c.48928A>G (p.Asn16310Asp)
c.46270A>G (p.Asn15424Asp)
c.46189A>G (p.Asn15397Asp)
c.27952A>G (p.Asn9318Asp)
c.17806A>G (p.Asn5936Asp)
2g.178602345T>GCA349545328TTN,TTN-AS1c.47353A>C (p.Asn15785His)
c.28438A>C (p.Asn9480His)
c.28237A>C (p.Asn9413His)
c.27862A>C (p.Asn9288His)
c.55057A>C (p.Asn18353His)
c.50134A>C (p.Asn16712His)
n.682+4664T>G
n.3917+1678T>G
c.54154A>C (p.Asn18052His)
c.28048A>C (p.Asn9350His)
c.27907A>C (p.Asn9303His)
c.53950A>C (p.Asn17984His)
c.49348A>C (p.Asn16450His)
c.49345A>C (p.Asn16449His)
c.46387A>C (p.Asn15463His)
c.28003A>C (p.Asn9335His)
c.49498A>C (p.Asn16500His)
c.49495A>C (p.Asn16499His)
c.48928A>C (p.Asn16310His)
c.46270A>C (p.Asn15424His)
c.46189A>C (p.Asn15397His)
c.27952A>C (p.Asn9318His)
c.17806A>C (p.Asn5936His)
 gnomAD v4
2g.178602346G>ACA430269356TTN,TTN-AS1c.47352C>T (p.Val15784=)
c.28437C>T (p.Val9479=)
c.28236C>T (p.Val9412=)
c.27861C>T (p.Val9287=)
c.55056C>T (p.Val18352=)
c.50133C>T (p.Val16711=)
n.682+4665G>A
n.3917+1679G>A
c.54153C>T (p.Val18051=)
c.28047C>T (p.Val9349=)
c.27906C>T (p.Val9302=)
c.53949C>T (p.Val17983=)
c.49347C>T (p.Val16449=)
c.49344C>T (p.Val16448=)
c.46386C>T (p.Val15462=)
c.28002C>T (p.Val9334=)
c.49497C>T (p.Val16499=)
c.49494C>T (p.Val16498=)
c.48927C>T (p.Val16309=)
c.46269C>T (p.Val15423=)
c.46188C>T (p.Val15396=)
c.27951C>T (p.Val9317=)
c.17805C>T (p.Val5935=)
 gnomAD v4
2g.178602346G>CCA430269358TTN,TTN-AS1c.47352C>G (p.Val15784=)
c.28437C>G (p.Val9479=)
c.28236C>G (p.Val9412=)
c.27861C>G (p.Val9287=)
c.55056C>G (p.Val18352=)
c.50133C>G (p.Val16711=)
n.682+4665G>C
n.3917+1679G>C
c.54153C>G (p.Val18051=)
c.28047C>G (p.Val9349=)
c.27906C>G (p.Val9302=)
c.53949C>G (p.Val17983=)
c.49347C>G (p.Val16449=)
c.49344C>G (p.Val16448=)
c.46386C>G (p.Val15462=)
c.28002C>G (p.Val9334=)
c.49497C>G (p.Val16499=)
c.49494C>G (p.Val16498=)
c.48927C>G (p.Val16309=)
c.46269C>G (p.Val15423=)
c.46188C>G (p.Val15396=)
c.27951C>G (p.Val9317=)
c.17805C>G (p.Val5935=)
 gnomAD v4
2g.178602346G>TCA430269360TTN,TTN-AS1c.47352C>A (p.Val15784=)
c.28437C>A (p.Val9479=)
c.28236C>A (p.Val9412=)
c.27861C>A (p.Val9287=)
c.55056C>A (p.Val18352=)
c.50133C>A (p.Val16711=)
n.682+4665G>T
n.3917+1679G>T
c.54153C>A (p.Val18051=)
c.28047C>A (p.Val9349=)
c.27906C>A (p.Val9302=)
c.53949C>A (p.Val17983=)
c.49347C>A (p.Val16449=)
c.49344C>A (p.Val16448=)
c.46386C>A (p.Val15462=)
c.28002C>A (p.Val9334=)
c.49497C>A (p.Val16499=)
c.49494C>A (p.Val16498=)
c.48927C>A (p.Val16309=)
c.46269C>A (p.Val15423=)
c.46188C>A (p.Val15396=)
c.27951C>A (p.Val9317=)
c.17805C>A (p.Val5935=)
2g.178602347A>CCA349545343TTN,TTN-AS1c.47351T>G (p.Val15784Gly)
c.28436T>G (p.Val9479Gly)
c.28235T>G (p.Val9412Gly)
c.27860T>G (p.Val9287Gly)
c.55055T>G (p.Val18352Gly)
c.50132T>G (p.Val16711Gly)
n.682+4666A>C
n.3917+1680A>C
c.54152T>G (p.Val18051Gly)
c.28046T>G (p.Val9349Gly)
c.27905T>G (p.Val9302Gly)
c.53948T>G (p.Val17983Gly)
c.49346T>G (p.Val16449Gly)
c.49343T>G (p.Val16448Gly)
c.46385T>G (p.Val15462Gly)
c.28001T>G (p.Val9334Gly)
c.49496T>G (p.Val16499Gly)
c.49493T>G (p.Val16498Gly)
c.48926T>G (p.Val16309Gly)
c.46268T>G (p.Val15423Gly)
c.46187T>G (p.Val15396Gly)
c.27950T>G (p.Val9317Gly)
c.17804T>G (p.Val5935Gly)
2g.178602347A>GCA349545346TTN,TTN-AS1c.47351T>C (p.Val15784Ala)
c.28436T>C (p.Val9479Ala)
c.28235T>C (p.Val9412Ala)
c.27860T>C (p.Val9287Ala)
c.55055T>C (p.Val18352Ala)
c.50132T>C (p.Val16711Ala)
n.682+4666A>G
n.3917+1680A>G
c.54152T>C (p.Val18051Ala)
c.28046T>C (p.Val9349Ala)
c.27905T>C (p.Val9302Ala)
c.53948T>C (p.Val17983Ala)
c.49346T>C (p.Val16449Ala)
c.49343T>C (p.Val16448Ala)
c.46385T>C (p.Val15462Ala)
c.28001T>C (p.Val9334Ala)
c.49496T>C (p.Val16499Ala)
c.49493T>C (p.Val16498Ala)
c.48926T>C (p.Val16309Ala)
c.46268T>C (p.Val15423Ala)
c.46187T>C (p.Val15396Ala)
c.27950T>C (p.Val9317Ala)
c.17804T>C (p.Val5935Ala)
2g.178602347A>TCA349545339TTN,TTN-AS1c.47351T>A (p.Val15784Asp)
c.28436T>A (p.Val9479Asp)
c.28235T>A (p.Val9412Asp)
c.27860T>A (p.Val9287Asp)
c.55055T>A (p.Val18352Asp)
c.50132T>A (p.Val16711Asp)
n.682+4666A>T
n.3917+1680A>T
c.54152T>A (p.Val18051Asp)
c.28046T>A (p.Val9349Asp)
c.27905T>A (p.Val9302Asp)
c.53948T>A (p.Val17983Asp)
c.49346T>A (p.Val16449Asp)
c.49343T>A (p.Val16448Asp)
c.46385T>A (p.Val15462Asp)
c.28001T>A (p.Val9334Asp)
c.49496T>A (p.Val16499Asp)
c.49493T>A (p.Val16498Asp)
c.48926T>A (p.Val16309Asp)
c.46268T>A (p.Val15423Asp)
c.46187T>A (p.Val15396Asp)
c.27950T>A (p.Val9317Asp)
c.17804T>A (p.Val5935Asp)
2g.178602348C>ACA349545351TTN,TTN-AS1c.47350G>T (p.Val15784Phe)
c.28435G>T (p.Val9479Phe)
c.28234G>T (p.Val9412Phe)
c.27859G>T (p.Val9287Phe)
c.55054G>T (p.Val18352Phe)
c.50131G>T (p.Val16711Phe)
n.682+4667C>A
n.3917+1681C>A
c.54151G>T (p.Val18051Phe)
c.28045G>T (p.Val9349Phe)
c.27904G>T (p.Val9302Phe)
c.53947G>T (p.Val17983Phe)
c.49345G>T (p.Val16449Phe)
c.49342G>T (p.Val16448Phe)
c.46384G>T (p.Val15462Phe)
c.28000G>T (p.Val9334Phe)
c.49495G>T (p.Val16499Phe)
c.49492G>T (p.Val16498Phe)
c.48925G>T (p.Val16309Phe)
c.46267G>T (p.Val15423Phe)
c.46186G>T (p.Val15396Phe)
c.27949G>T (p.Val9317Phe)
c.17803G>T (p.Val5935Phe)
2g.178602348C=CA1310544486TTN,TTN-AS1c.47350G= (p.Val15784=)
c.28435G= (p.Val9479=)
c.28234G= (p.Val9412=)
c.27859G= (p.Val9287=)
c.55054G= (p.Val18352=)
c.50131G= (p.Val16711=)
n.682+4667C=
n.3917+1681C=
c.54151G= (p.Val18051=)
c.28045G= (p.Val9349=)
c.27904G= (p.Val9302=)
c.53947G= (p.Val17983=)
c.49345G= (p.Val16449=)
c.49342G= (p.Val16448=)
c.46384G= (p.Val15462=)
c.28000G= (p.Val9334=)
c.49495G= (p.Val16499=)
c.49492G= (p.Val16498=)
c.48925G= (p.Val16309=)
c.46267G= (p.Val15423=)
c.46186G= (p.Val15396=)
c.27949G= (p.Val9317=)
c.17803G= (p.Val5935=)
2g.178602348C>GCA349545377TTN,TTN-AS1c.47350G>C (p.Val15784Leu)
c.28435G>C (p.Val9479Leu)
c.28234G>C (p.Val9412Leu)
c.27859G>C (p.Val9287Leu)
c.55054G>C (p.Val18352Leu)
c.50131G>C (p.Val16711Leu)
n.682+4667C>G
n.3917+1681C>G
c.54151G>C (p.Val18051Leu)
c.28045G>C (p.Val9349Leu)
c.27904G>C (p.Val9302Leu)
c.53947G>C (p.Val17983Leu)
c.49345G>C (p.Val16449Leu)
c.49342G>C (p.Val16448Leu)
c.46384G>C (p.Val15462Leu)
c.28000G>C (p.Val9334Leu)
c.49495G>C (p.Val16499Leu)
c.49492G>C (p.Val16498Leu)
c.48925G>C (p.Val16309Leu)
c.46267G>C (p.Val15423Leu)
c.46186G>C (p.Val15396Leu)
c.27949G>C (p.Val9317Leu)
c.17803G>C (p.Val5935Leu)
2g.178602348C>TCA1993542TTN,TTN-AS1c.47350G>A (p.Val15784Ile)
c.28435G>A (p.Val9479Ile)
c.28234G>A (p.Val9412Ile)
c.27859G>A (p.Val9287Ile)
c.55054G>A (p.Val18352Ile)
c.50131G>A (p.Val16711Ile)
n.682+4667C>T
n.3917+1681C>T
c.54151G>A (p.Val18051Ile)
c.28045G>A (p.Val9349Ile)
c.27904G>A (p.Val9302Ile)
c.53947G>A (p.Val17983Ile)
c.49345G>A (p.Val16449Ile)
c.49342G>A (p.Val16448Ile)
c.46384G>A (p.Val15462Ile)
c.28000G>A (p.Val9334Ile)
c.49495G>A (p.Val16499Ile)
c.49492G>A (p.Val16498Ile)
c.48925G>A (p.Val16309Ile)
c.46267G>A (p.Val15423Ile)
c.46186G>A (p.Val15396Ile)
c.27949G>A (p.Val9317Ile)
c.17803G>A (p.Val5935Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178602349A>CCA430269362TTN,TTN-AS1c.47349T>G (p.Ala15783=)
c.28434T>G (p.Ala9478=)
c.28233T>G (p.Ala9411=)
c.27858T>G (p.Ala9286=)
c.55053T>G (p.Ala18351=)
c.50130T>G (p.Ala16710=)
n.682+4668A>C
n.3917+1682A>C
c.54150T>G (p.Ala18050=)
c.28044T>G (p.Ala9348=)
c.27903T>G (p.Ala9301=)
c.53946T>G (p.Ala17982=)
c.49344T>G (p.Ala16448=)
c.49341T>G (p.Ala16447=)
c.46383T>G (p.Ala15461=)
c.27999T>G (p.Ala9333=)
c.49494T>G (p.Ala16498=)
c.49491T>G (p.Ala16497=)
c.48924T>G (p.Ala16308=)
c.46266T>G (p.Ala15422=)
c.46185T>G (p.Ala15395=)
c.27948T>G (p.Ala9316=)
c.17802T>G (p.Ala5934=)

Number of alleles fetched