Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178613888G>ACA1994607TTN,TTN-AS1c.41691C>T (p.Asp13897=)
c.22776C>T (p.Asp7592=)
c.22575C>T (p.Asp7525=)
c.22200C>T (p.Asp7400=)
c.49395C>T (p.Asp16465=)
c.44472C>T (p.Asp14824=)
n.783-147G>A
c.48492C>T (p.Asp16164=)
c.22386C>T (p.Asp7462=)
c.22245C>T (p.Asp7415=)
c.48288C>T (p.Asp16096=)
c.43686C>T (p.Asp14562=)
c.43683C>T (p.Asp14561=)
c.40725C>T (p.Asp13575=)
c.22341C>T (p.Asp7447=)
c.43836C>T (p.Asp14612=)
c.43833C>T (p.Asp14611=)
c.43266C>T (p.Asp14422=)
c.40608C>T (p.Asp13536=)
c.40527C>T (p.Asp13509=)
c.22290C>T (p.Asp7430=)
c.12144C>T (p.Asp4048=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178613888G>CCA349604761TTN,TTN-AS1c.41691C>G (p.Asp13897Glu)
c.22776C>G (p.Asp7592Glu)
c.22575C>G (p.Asp7525Glu)
c.22200C>G (p.Asp7400Glu)
c.49395C>G (p.Asp16465Glu)
c.44472C>G (p.Asp14824Glu)
n.783-147G>C
c.48492C>G (p.Asp16164Glu)
c.22386C>G (p.Asp7462Glu)
c.22245C>G (p.Asp7415Glu)
c.48288C>G (p.Asp16096Glu)
c.43686C>G (p.Asp14562Glu)
c.43683C>G (p.Asp14561Glu)
c.40725C>G (p.Asp13575Glu)
c.22341C>G (p.Asp7447Glu)
c.43836C>G (p.Asp14612Glu)
c.43833C>G (p.Asp14611Glu)
c.43266C>G (p.Asp14422Glu)
c.40608C>G (p.Asp13536Glu)
c.40527C>G (p.Asp13509Glu)
c.22290C>G (p.Asp7430Glu)
c.12144C>G (p.Asp4048Glu)
 gnomAD v4
2g.178613888G=CA1310549116TTN,TTN-AS1c.41691C= (p.Asp13897=)
c.22776C= (p.Asp7592=)
c.22575C= (p.Asp7525=)
c.22200C= (p.Asp7400=)
c.49395C= (p.Asp16465=)
c.44472C= (p.Asp14824=)
n.783-147G=
c.48492C= (p.Asp16164=)
c.22386C= (p.Asp7462=)
c.22245C= (p.Asp7415=)
c.48288C= (p.Asp16096=)
c.43686C= (p.Asp14562=)
c.43683C= (p.Asp14561=)
c.40725C= (p.Asp13575=)
c.22341C= (p.Asp7447=)
c.43836C= (p.Asp14612=)
c.43833C= (p.Asp14611=)
c.43266C= (p.Asp14422=)
c.40608C= (p.Asp13536=)
c.40527C= (p.Asp13509=)
c.22290C= (p.Asp7430=)
c.12144C= (p.Asp4048=)
2g.178613888G>TCA349604757TTN,TTN-AS1c.41691C>A (p.Asp13897Glu)
c.22776C>A (p.Asp7592Glu)
c.22575C>A (p.Asp7525Glu)
c.22200C>A (p.Asp7400Glu)
c.49395C>A (p.Asp16465Glu)
c.44472C>A (p.Asp14824Glu)
n.783-147G>T
c.48492C>A (p.Asp16164Glu)
c.22386C>A (p.Asp7462Glu)
c.22245C>A (p.Asp7415Glu)
c.48288C>A (p.Asp16096Glu)
c.43686C>A (p.Asp14562Glu)
c.43683C>A (p.Asp14561Glu)
c.40725C>A (p.Asp13575Glu)
c.22341C>A (p.Asp7447Glu)
c.43836C>A (p.Asp14612Glu)
c.43833C>A (p.Asp14611Glu)
c.43266C>A (p.Asp14422Glu)
c.40608C>A (p.Asp13536Glu)
c.40527C>A (p.Asp13509Glu)
c.22290C>A (p.Asp7430Glu)
c.12144C>A (p.Asp4048Glu)
2g.178613889T>ACA349604763TTN,TTN-AS1c.41690A>T (p.Asp13897Val)
c.22775A>T (p.Asp7592Val)
c.22574A>T (p.Asp7525Val)
c.22199A>T (p.Asp7400Val)
c.49394A>T (p.Asp16465Val)
c.44471A>T (p.Asp14824Val)
n.783-146T>A
c.48491A>T (p.Asp16164Val)
c.22385A>T (p.Asp7462Val)
c.22244A>T (p.Asp7415Val)
c.48287A>T (p.Asp16096Val)
c.43685A>T (p.Asp14562Val)
c.43682A>T (p.Asp14561Val)
c.40724A>T (p.Asp13575Val)
c.22340A>T (p.Asp7447Val)
c.43835A>T (p.Asp14612Val)
c.43832A>T (p.Asp14611Val)
c.43265A>T (p.Asp14422Val)
c.40607A>T (p.Asp13536Val)
c.40526A>T (p.Asp13509Val)
c.22289A>T (p.Asp7430Val)
c.12143A>T (p.Asp4048Val)
2g.178613889T>CCA349604766TTN,TTN-AS1c.41690A>G (p.Asp13897Gly)
c.22775A>G (p.Asp7592Gly)
c.22574A>G (p.Asp7525Gly)
c.22199A>G (p.Asp7400Gly)
c.49394A>G (p.Asp16465Gly)
c.44471A>G (p.Asp14824Gly)
n.783-146T>C
c.48491A>G (p.Asp16164Gly)
c.22385A>G (p.Asp7462Gly)
c.22244A>G (p.Asp7415Gly)
c.48287A>G (p.Asp16096Gly)
c.43685A>G (p.Asp14562Gly)
c.43682A>G (p.Asp14561Gly)
c.40724A>G (p.Asp13575Gly)
c.22340A>G (p.Asp7447Gly)
c.43835A>G (p.Asp14612Gly)
c.43832A>G (p.Asp14611Gly)
c.43265A>G (p.Asp14422Gly)
c.40607A>G (p.Asp13536Gly)
c.40526A>G (p.Asp13509Gly)
c.22289A>G (p.Asp7430Gly)
c.12143A>G (p.Asp4048Gly)
2g.178613889T>GCA349604768TTN,TTN-AS1c.41690A>C (p.Asp13897Ala)
c.22775A>C (p.Asp7592Ala)
c.22574A>C (p.Asp7525Ala)
c.22199A>C (p.Asp7400Ala)
c.49394A>C (p.Asp16465Ala)
c.44471A>C (p.Asp14824Ala)
n.783-146T>G
c.48491A>C (p.Asp16164Ala)
c.22385A>C (p.Asp7462Ala)
c.22244A>C (p.Asp7415Ala)
c.48287A>C (p.Asp16096Ala)
c.43685A>C (p.Asp14562Ala)
c.43682A>C (p.Asp14561Ala)
c.40724A>C (p.Asp13575Ala)
c.22340A>C (p.Asp7447Ala)
c.43835A>C (p.Asp14612Ala)
c.43832A>C (p.Asp14611Ala)
c.43265A>C (p.Asp14422Ala)
c.40607A>C (p.Asp13536Ala)
c.40526A>C (p.Asp13509Ala)
c.22289A>C (p.Asp7430Ala)
c.12143A>C (p.Asp4048Ala)
2g.178613890C>ACA349604771TTN,TTN-AS1c.41689G>T (p.Asp13897Tyr)
c.22774G>T (p.Asp7592Tyr)
c.22573G>T (p.Asp7525Tyr)
c.22198G>T (p.Asp7400Tyr)
c.49393G>T (p.Asp16465Tyr)
c.44470G>T (p.Asp14824Tyr)
n.783-145C>A
c.48490G>T (p.Asp16164Tyr)
c.22384G>T (p.Asp7462Tyr)
c.22243G>T (p.Asp7415Tyr)
c.48286G>T (p.Asp16096Tyr)
c.43684G>T (p.Asp14562Tyr)
c.43681G>T (p.Asp14561Tyr)
c.40723G>T (p.Asp13575Tyr)
c.22339G>T (p.Asp7447Tyr)
c.43834G>T (p.Asp14612Tyr)
c.43831G>T (p.Asp14611Tyr)
c.43264G>T (p.Asp14422Tyr)
c.40606G>T (p.Asp13536Tyr)
c.40525G>T (p.Asp13509Tyr)
c.22288G>T (p.Asp7430Tyr)
c.12142G>T (p.Asp4048Tyr)
 COSMIC COSMIC COSMIC COSMIC
2g.178613890C>GCA349604774TTN,TTN-AS1c.41689G>C (p.Asp13897His)
c.22774G>C (p.Asp7592His)
c.22573G>C (p.Asp7525His)
c.22198G>C (p.Asp7400His)
c.49393G>C (p.Asp16465His)
c.44470G>C (p.Asp14824His)
n.783-145C>G
c.48490G>C (p.Asp16164His)
c.22384G>C (p.Asp7462His)
c.22243G>C (p.Asp7415His)
c.48286G>C (p.Asp16096His)
c.43684G>C (p.Asp14562His)
c.43681G>C (p.Asp14561His)
c.40723G>C (p.Asp13575His)
c.22339G>C (p.Asp7447His)
c.43834G>C (p.Asp14612His)
c.43831G>C (p.Asp14611His)
c.43264G>C (p.Asp14422His)
c.40606G>C (p.Asp13536His)
c.40525G>C (p.Asp13509His)
c.22288G>C (p.Asp7430His)
c.12142G>C (p.Asp4048His)
2g.178613890C>TCA349604776TTN,TTN-AS1c.41689G>A (p.Asp13897Asn)
c.22774G>A (p.Asp7592Asn)
c.22573G>A (p.Asp7525Asn)
c.22198G>A (p.Asp7400Asn)
c.49393G>A (p.Asp16465Asn)
c.44470G>A (p.Asp14824Asn)
n.783-145C>T
c.48490G>A (p.Asp16164Asn)
c.22384G>A (p.Asp7462Asn)
c.22243G>A (p.Asp7415Asn)
c.48286G>A (p.Asp16096Asn)
c.43684G>A (p.Asp14562Asn)
c.43681G>A (p.Asp14561Asn)
c.40723G>A (p.Asp13575Asn)
c.22339G>A (p.Asp7447Asn)
c.43834G>A (p.Asp14612Asn)
c.43831G>A (p.Asp14611Asn)
c.43264G>A (p.Asp14422Asn)
c.40606G>A (p.Asp13536Asn)
c.40525G>A (p.Asp13509Asn)
c.22288G>A (p.Asp7430Asn)
c.12142G>A (p.Asp4048Asn)
2g.178613891T>ACA349604783TTN,TTN-AS1c.41688A>T (p.Lys13896Asn)
c.22773A>T (p.Lys7591Asn)
c.22572A>T (p.Lys7524Asn)
c.22197A>T (p.Lys7399Asn)
c.49392A>T (p.Lys16464Asn)
c.44469A>T (p.Lys14823Asn)
n.783-144T>A
c.48489A>T (p.Lys16163Asn)
c.22383A>T (p.Lys7461Asn)
c.22242A>T (p.Lys7414Asn)
c.48285A>T (p.Lys16095Asn)
c.43683A>T (p.Lys14561Asn)
c.43680A>T (p.Lys14560Asn)
c.40722A>T (p.Lys13574Asn)
c.22338A>T (p.Lys7446Asn)
c.43833A>T (p.Lys14611Asn)
c.43830A>T (p.Lys14610Asn)
c.43263A>T (p.Lys14421Asn)
c.40605A>T (p.Lys13535Asn)
c.40524A>T (p.Lys13508Asn)
c.22287A>T (p.Lys7429Asn)
c.12141A>T (p.Lys4047Asn)
2g.178613891T>CCA430272892TTN,TTN-AS1c.41688A>G (p.Lys13896=)
c.22773A>G (p.Lys7591=)
c.22572A>G (p.Lys7524=)
c.22197A>G (p.Lys7399=)
c.49392A>G (p.Lys16464=)
c.44469A>G (p.Lys14823=)
n.783-144T>C
c.48489A>G (p.Lys16163=)
c.22383A>G (p.Lys7461=)
c.22242A>G (p.Lys7414=)
c.48285A>G (p.Lys16095=)
c.43683A>G (p.Lys14561=)
c.43680A>G (p.Lys14560=)
c.40722A>G (p.Lys13574=)
c.22338A>G (p.Lys7446=)
c.43833A>G (p.Lys14611=)
c.43830A>G (p.Lys14610=)
c.43263A>G (p.Lys14421=)
c.40605A>G (p.Lys13535=)
c.40524A>G (p.Lys13508=)
c.22287A>G (p.Lys7429=)
c.12141A>G (p.Lys4047=)
2g.178613891T>GCA349604785TTN,TTN-AS1c.41688A>C (p.Lys13896Asn)
c.22773A>C (p.Lys7591Asn)
c.22572A>C (p.Lys7524Asn)
c.22197A>C (p.Lys7399Asn)
c.49392A>C (p.Lys16464Asn)
c.44469A>C (p.Lys14823Asn)
n.783-144T>G
c.48489A>C (p.Lys16163Asn)
c.22383A>C (p.Lys7461Asn)
c.22242A>C (p.Lys7414Asn)
c.48285A>C (p.Lys16095Asn)
c.43683A>C (p.Lys14561Asn)
c.43680A>C (p.Lys14560Asn)
c.40722A>C (p.Lys13574Asn)
c.22338A>C (p.Lys7446Asn)
c.43833A>C (p.Lys14611Asn)
c.43830A>C (p.Lys14610Asn)
c.43263A>C (p.Lys14421Asn)
c.40605A>C (p.Lys13535Asn)
c.40524A>C (p.Lys13508Asn)
c.22287A>C (p.Lys7429Asn)
c.12141A>C (p.Lys4047Asn)
2g.178613892T>ACA349604786TTN,TTN-AS1c.41687A>T (p.Lys13896Ile)
c.22772A>T (p.Lys7591Ile)
c.22571A>T (p.Lys7524Ile)
c.22196A>T (p.Lys7399Ile)
c.49391A>T (p.Lys16464Ile)
c.44468A>T (p.Lys14823Ile)
n.783-143T>A
c.48488A>T (p.Lys16163Ile)
c.22382A>T (p.Lys7461Ile)
c.22241A>T (p.Lys7414Ile)
c.48284A>T (p.Lys16095Ile)
c.43682A>T (p.Lys14561Ile)
c.43679A>T (p.Lys14560Ile)
c.40721A>T (p.Lys13574Ile)
c.22337A>T (p.Lys7446Ile)
c.43832A>T (p.Lys14611Ile)
c.43829A>T (p.Lys14610Ile)
c.43262A>T (p.Lys14421Ile)
c.40604A>T (p.Lys13535Ile)
c.40523A>T (p.Lys13508Ile)
c.22286A>T (p.Lys7429Ile)
c.12140A>T (p.Lys4047Ile)
2g.178613892T>CCA349604787TTN,TTN-AS1c.41687A>G (p.Lys13896Arg)
c.22772A>G (p.Lys7591Arg)
c.22571A>G (p.Lys7524Arg)
c.22196A>G (p.Lys7399Arg)
c.49391A>G (p.Lys16464Arg)
c.44468A>G (p.Lys14823Arg)
n.783-143T>C
c.48488A>G (p.Lys16163Arg)
c.22382A>G (p.Lys7461Arg)
c.22241A>G (p.Lys7414Arg)
c.48284A>G (p.Lys16095Arg)
c.43682A>G (p.Lys14561Arg)
c.43679A>G (p.Lys14560Arg)
c.40721A>G (p.Lys13574Arg)
c.22337A>G (p.Lys7446Arg)
c.43832A>G (p.Lys14611Arg)
c.43829A>G (p.Lys14610Arg)
c.43262A>G (p.Lys14421Arg)
c.40604A>G (p.Lys13535Arg)
c.40523A>G (p.Lys13508Arg)
c.22286A>G (p.Lys7429Arg)
c.12140A>G (p.Lys4047Arg)
2g.178613892T>GCA349604791TTN,TTN-AS1c.41687A>C (p.Lys13896Thr)
c.22772A>C (p.Lys7591Thr)
c.22571A>C (p.Lys7524Thr)
c.22196A>C (p.Lys7399Thr)
c.49391A>C (p.Lys16464Thr)
c.44468A>C (p.Lys14823Thr)
n.783-143T>G
c.48488A>C (p.Lys16163Thr)
c.22382A>C (p.Lys7461Thr)
c.22241A>C (p.Lys7414Thr)
c.48284A>C (p.Lys16095Thr)
c.43682A>C (p.Lys14561Thr)
c.43679A>C (p.Lys14560Thr)
c.40721A>C (p.Lys13574Thr)
c.22337A>C (p.Lys7446Thr)
c.43832A>C (p.Lys14611Thr)
c.43829A>C (p.Lys14610Thr)
c.43262A>C (p.Lys14421Thr)
c.40604A>C (p.Lys13535Thr)
c.40523A>C (p.Lys13508Thr)
c.22286A>C (p.Lys7429Thr)
c.12140A>C (p.Lys4047Thr)
2g.178613893T>ACA349604799TTN,TTN-AS1c.41686A>T (p.Lys13896Ter)
c.22771A>T (p.Lys7591Ter)
c.22570A>T (p.Lys7524Ter)
c.22195A>T (p.Lys7399Ter)
c.49390A>T (p.Lys16464Ter)
c.44467A>T (p.Lys14823Ter)
n.783-142T>A
c.48487A>T (p.Lys16163Ter)
c.22381A>T (p.Lys7461Ter)
c.22240A>T (p.Lys7414Ter)
c.48283A>T (p.Lys16095Ter)
c.43681A>T (p.Lys14561Ter)
c.43678A>T (p.Lys14560Ter)
c.40720A>T (p.Lys13574Ter)
c.22336A>T (p.Lys7446Ter)
c.43831A>T (p.Lys14611Ter)
c.43828A>T (p.Lys14610Ter)
c.43261A>T (p.Lys14421Ter)
c.40603A>T (p.Lys13535Ter)
c.40522A>T (p.Lys13508Ter)
c.22285A>T (p.Lys7429Ter)
c.12139A>T (p.Lys4047Ter)
2g.178613893T>CCA349604797TTN,TTN-AS1c.41686A>G (p.Lys13896Glu)
c.22771A>G (p.Lys7591Glu)
c.22570A>G (p.Lys7524Glu)
c.22195A>G (p.Lys7399Glu)
c.49390A>G (p.Lys16464Glu)
c.44467A>G (p.Lys14823Glu)
n.783-142T>C
c.48487A>G (p.Lys16163Glu)
c.22381A>G (p.Lys7461Glu)
c.22240A>G (p.Lys7414Glu)
c.48283A>G (p.Lys16095Glu)
c.43681A>G (p.Lys14561Glu)
c.43678A>G (p.Lys14560Glu)
c.40720A>G (p.Lys13574Glu)
c.22336A>G (p.Lys7446Glu)
c.43831A>G (p.Lys14611Glu)
c.43828A>G (p.Lys14610Glu)
c.43261A>G (p.Lys14421Glu)
c.40603A>G (p.Lys13535Glu)
c.40522A>G (p.Lys13508Glu)
c.22285A>G (p.Lys7429Glu)
c.12139A>G (p.Lys4047Glu)
 dbSNP
2g.178613893T>GCA349604794TTN,TTN-AS1c.41686A>C (p.Lys13896Gln)
c.22771A>C (p.Lys7591Gln)
c.22570A>C (p.Lys7524Gln)
c.22195A>C (p.Lys7399Gln)
c.49390A>C (p.Lys16464Gln)
c.44467A>C (p.Lys14823Gln)
n.783-142T>G
c.48487A>C (p.Lys16163Gln)
c.22381A>C (p.Lys7461Gln)
c.22240A>C (p.Lys7414Gln)
c.48283A>C (p.Lys16095Gln)
c.43681A>C (p.Lys14561Gln)
c.43678A>C (p.Lys14560Gln)
c.40720A>C (p.Lys13574Gln)
c.22336A>C (p.Lys7446Gln)
c.43831A>C (p.Lys14611Gln)
c.43828A>C (p.Lys14610Gln)
c.43261A>C (p.Lys14421Gln)
c.40603A>C (p.Lys13535Gln)
c.40522A>C (p.Lys13508Gln)
c.22285A>C (p.Lys7429Gln)
c.12139A>C (p.Lys4047Gln)
2g.178613893T=CA1310549117TTN,TTN-AS1c.41686A= (p.Lys13896=)
c.22771A= (p.Lys7591=)
c.22570A= (p.Lys7524=)
c.22195A= (p.Lys7399=)
c.49390A= (p.Lys16464=)
c.44467A= (p.Lys14823=)
n.783-142T=
c.48487A= (p.Lys16163=)
c.22381A= (p.Lys7461=)
c.22240A= (p.Lys7414=)
c.48283A= (p.Lys16095=)
c.43681A= (p.Lys14561=)
c.43678A= (p.Lys14560=)
c.40720A= (p.Lys13574=)
c.22336A= (p.Lys7446=)
c.43831A= (p.Lys14611=)
c.43828A= (p.Lys14610=)
c.43261A= (p.Lys14421=)
c.40603A= (p.Lys13535=)
c.40522A= (p.Lys13508=)
c.22285A= (p.Lys7429=)
c.12139A= (p.Lys4047=)
2g.178613894A=CA1310549118TTN,TTN-AS1c.41685T= (p.Thr13895=)
c.22770T= (p.Thr7590=)
c.22569T= (p.Thr7523=)
c.22194T= (p.Thr7398=)
c.49389T= (p.Thr16463=)
c.44466T= (p.Thr14822=)
n.783-141A=
c.48486T= (p.Thr16162=)
c.22380T= (p.Thr7460=)
c.22239T= (p.Thr7413=)
c.48282T= (p.Thr16094=)
c.43680T= (p.Thr14560=)
c.43677T= (p.Thr14559=)
c.40719T= (p.Thr13573=)
c.22335T= (p.Thr7445=)
c.43830T= (p.Thr14610=)
c.43827T= (p.Thr14609=)
c.43260T= (p.Thr14420=)
c.40602T= (p.Thr13534=)
c.40521T= (p.Thr13507=)
c.22284T= (p.Thr7428=)
c.12138T= (p.Thr4046=)
2g.178613894A>CCA430272894TTN,TTN-AS1c.41685T>G (p.Thr13895=)
c.22770T>G (p.Thr7590=)
c.22569T>G (p.Thr7523=)
c.22194T>G (p.Thr7398=)
c.49389T>G (p.Thr16463=)
c.44466T>G (p.Thr14822=)
n.783-141A>C
c.48486T>G (p.Thr16162=)
c.22380T>G (p.Thr7460=)
c.22239T>G (p.Thr7413=)
c.48282T>G (p.Thr16094=)
c.43680T>G (p.Thr14560=)
c.43677T>G (p.Thr14559=)
c.40719T>G (p.Thr13573=)
c.22335T>G (p.Thr7445=)
c.43830T>G (p.Thr14610=)
c.43827T>G (p.Thr14609=)
c.43260T>G (p.Thr14420=)
c.40602T>G (p.Thr13534=)
c.40521T>G (p.Thr13507=)
c.22284T>G (p.Thr7428=)
c.12138T>G (p.Thr4046=)
 gnomAD v4
2g.178613894A>GCA430272896TTN,TTN-AS1c.41685T>C (p.Thr13895=)
c.22770T>C (p.Thr7590=)
c.22569T>C (p.Thr7523=)
c.22194T>C (p.Thr7398=)
c.49389T>C (p.Thr16463=)
c.44466T>C (p.Thr14822=)
n.783-141A>G
c.48486T>C (p.Thr16162=)
c.22380T>C (p.Thr7460=)
c.22239T>C (p.Thr7413=)
c.48282T>C (p.Thr16094=)
c.43680T>C (p.Thr14560=)
c.43677T>C (p.Thr14559=)
c.40719T>C (p.Thr13573=)
c.22335T>C (p.Thr7445=)
c.43830T>C (p.Thr14610=)
c.43827T>C (p.Thr14609=)
c.43260T>C (p.Thr14420=)
c.40602T>C (p.Thr13534=)
c.40521T>C (p.Thr13507=)
c.22284T>C (p.Thr7428=)
c.12138T>C (p.Thr4046=)
 dbSNP gnomAD v3 gnomAD v4
2g.178613894A>TCA430272895TTN,TTN-AS1c.41685T>A (p.Thr13895=)
c.22770T>A (p.Thr7590=)
c.22569T>A (p.Thr7523=)
c.22194T>A (p.Thr7398=)
c.49389T>A (p.Thr16463=)
c.44466T>A (p.Thr14822=)
n.783-141A>T
c.48486T>A (p.Thr16162=)
c.22380T>A (p.Thr7460=)
c.22239T>A (p.Thr7413=)
c.48282T>A (p.Thr16094=)
c.43680T>A (p.Thr14560=)
c.43677T>A (p.Thr14559=)
c.40719T>A (p.Thr13573=)
c.22335T>A (p.Thr7445=)
c.43830T>A (p.Thr14610=)
c.43827T>A (p.Thr14609=)
c.43260T>A (p.Thr14420=)
c.40602T>A (p.Thr13534=)
c.40521T>A (p.Thr13507=)
c.22284T>A (p.Thr7428=)
c.12138T>A (p.Thr4046=)
2g.178613895G>ACA60987102TTN,TTN-AS1c.41684C>T (p.Thr13895Ile)
c.22769C>T (p.Thr7590Ile)
c.22568C>T (p.Thr7523Ile)
c.22193C>T (p.Thr7398Ile)
c.49388C>T (p.Thr16463Ile)
c.44465C>T (p.Thr14822Ile)
n.783-140G>A
c.48485C>T (p.Thr16162Ile)
c.22379C>T (p.Thr7460Ile)
c.22238C>T (p.Thr7413Ile)
c.48281C>T (p.Thr16094Ile)
c.43679C>T (p.Thr14560Ile)
c.43676C>T (p.Thr14559Ile)
c.40718C>T (p.Thr13573Ile)
c.22334C>T (p.Thr7445Ile)
c.43829C>T (p.Thr14610Ile)
c.43826C>T (p.Thr14609Ile)
c.43259C>T (p.Thr14420Ile)
c.40601C>T (p.Thr13534Ile)
c.40520C>T (p.Thr13507Ile)
c.22283C>T (p.Thr7428Ile)
c.12137C>T (p.Thr4046Ile)
 dbSNP gnomAD v4
2g.178613895G>CCA349604804TTN,TTN-AS1c.41684C>G (p.Thr13895Ser)
c.22769C>G (p.Thr7590Ser)
c.22568C>G (p.Thr7523Ser)
c.22193C>G (p.Thr7398Ser)
c.49388C>G (p.Thr16463Ser)
c.44465C>G (p.Thr14822Ser)
n.783-140G>C
c.48485C>G (p.Thr16162Ser)
c.22379C>G (p.Thr7460Ser)
c.22238C>G (p.Thr7413Ser)
c.48281C>G (p.Thr16094Ser)
c.43679C>G (p.Thr14560Ser)
c.43676C>G (p.Thr14559Ser)
c.40718C>G (p.Thr13573Ser)
c.22334C>G (p.Thr7445Ser)
c.43829C>G (p.Thr14610Ser)
c.43826C>G (p.Thr14609Ser)
c.43259C>G (p.Thr14420Ser)
c.40601C>G (p.Thr13534Ser)
c.40520C>G (p.Thr13507Ser)
c.22283C>G (p.Thr7428Ser)
c.12137C>G (p.Thr4046Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178613895G=CA1310549119TTN,TTN-AS1c.41684C= (p.Thr13895=)
c.22769C= (p.Thr7590=)
c.22568C= (p.Thr7523=)
c.22193C= (p.Thr7398=)
c.49388C= (p.Thr16463=)
c.44465C= (p.Thr14822=)
n.783-140G=
c.48485C= (p.Thr16162=)
c.22379C= (p.Thr7460=)
c.22238C= (p.Thr7413=)
c.48281C= (p.Thr16094=)
c.43679C= (p.Thr14560=)
c.43676C= (p.Thr14559=)
c.40718C= (p.Thr13573=)
c.22334C= (p.Thr7445=)
c.43829C= (p.Thr14610=)
c.43826C= (p.Thr14609=)
c.43259C= (p.Thr14420=)
c.40601C= (p.Thr13534=)
c.40520C= (p.Thr13507=)
c.22283C= (p.Thr7428=)
c.12137C= (p.Thr4046=)
2g.178613895G>TCA1994608TTN,TTN-AS1c.41684C>A (p.Thr13895Asn)
c.22769C>A (p.Thr7590Asn)
c.22568C>A (p.Thr7523Asn)
c.22193C>A (p.Thr7398Asn)
c.49388C>A (p.Thr16463Asn)
c.44465C>A (p.Thr14822Asn)
n.783-140G>T
c.48485C>A (p.Thr16162Asn)
c.22379C>A (p.Thr7460Asn)
c.22238C>A (p.Thr7413Asn)
c.48281C>A (p.Thr16094Asn)
c.43679C>A (p.Thr14560Asn)
c.43676C>A (p.Thr14559Asn)
c.40718C>A (p.Thr13573Asn)
c.22334C>A (p.Thr7445Asn)
c.43829C>A (p.Thr14610Asn)
c.43826C>A (p.Thr14609Asn)
c.43259C>A (p.Thr14420Asn)
c.40601C>A (p.Thr13534Asn)
c.40520C>A (p.Thr13507Asn)
c.22283C>A (p.Thr7428Asn)
c.12137C>A (p.Thr4046Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178613896T>ACA349604815TTN,TTN-AS1c.41683A>T (p.Thr13895Ser)
c.22768A>T (p.Thr7590Ser)
c.22567A>T (p.Thr7523Ser)
c.22192A>T (p.Thr7398Ser)
c.49387A>T (p.Thr16463Ser)
c.44464A>T (p.Thr14822Ser)
n.783-139T>A
c.48484A>T (p.Thr16162Ser)
c.22378A>T (p.Thr7460Ser)
c.22237A>T (p.Thr7413Ser)
c.48280A>T (p.Thr16094Ser)
c.43678A>T (p.Thr14560Ser)
c.43675A>T (p.Thr14559Ser)
c.40717A>T (p.Thr13573Ser)
c.22333A>T (p.Thr7445Ser)
c.43828A>T (p.Thr14610Ser)
c.43825A>T (p.Thr14609Ser)
c.43258A>T (p.Thr14420Ser)
c.40600A>T (p.Thr13534Ser)
c.40519A>T (p.Thr13507Ser)
c.22282A>T (p.Thr7428Ser)
c.12136A>T (p.Thr4046Ser)
2g.178613896T>CCA349604818TTN,TTN-AS1c.41683A>G (p.Thr13895Ala)
c.22768A>G (p.Thr7590Ala)
c.22567A>G (p.Thr7523Ala)
c.22192A>G (p.Thr7398Ala)
c.49387A>G (p.Thr16463Ala)
c.44464A>G (p.Thr14822Ala)
n.783-139T>C
c.48484A>G (p.Thr16162Ala)
c.22378A>G (p.Thr7460Ala)
c.22237A>G (p.Thr7413Ala)
c.48280A>G (p.Thr16094Ala)
c.43678A>G (p.Thr14560Ala)
c.43675A>G (p.Thr14559Ala)
c.40717A>G (p.Thr13573Ala)
c.22333A>G (p.Thr7445Ala)
c.43828A>G (p.Thr14610Ala)
c.43825A>G (p.Thr14609Ala)
c.43258A>G (p.Thr14420Ala)
c.40600A>G (p.Thr13534Ala)
c.40519A>G (p.Thr13507Ala)
c.22282A>G (p.Thr7428Ala)
c.12136A>G (p.Thr4046Ala)
2g.178613896T>GCA349604819TTN,TTN-AS1c.41683A>C (p.Thr13895Pro)
c.22768A>C (p.Thr7590Pro)
c.22567A>C (p.Thr7523Pro)
c.22192A>C (p.Thr7398Pro)
c.49387A>C (p.Thr16463Pro)
c.44464A>C (p.Thr14822Pro)
n.783-139T>G
c.48484A>C (p.Thr16162Pro)
c.22378A>C (p.Thr7460Pro)
c.22237A>C (p.Thr7413Pro)
c.48280A>C (p.Thr16094Pro)
c.43678A>C (p.Thr14560Pro)
c.43675A>C (p.Thr14559Pro)
c.40717A>C (p.Thr13573Pro)
c.22333A>C (p.Thr7445Pro)
c.43828A>C (p.Thr14610Pro)
c.43825A>C (p.Thr14609Pro)
c.43258A>C (p.Thr14420Pro)
c.40600A>C (p.Thr13534Pro)
c.40519A>C (p.Thr13507Pro)
c.22282A>C (p.Thr7428Pro)
c.12136A>C (p.Thr4046Pro)
2g.178613897G>ACA430272897TTN,TTN-AS1c.41682C>T (p.Ile13894=)
c.22767C>T (p.Ile7589=)
c.22566C>T (p.Ile7522=)
c.22191C>T (p.Ile7397=)
c.49386C>T (p.Ile16462=)
c.44463C>T (p.Ile14821=)
n.783-138G>A
c.48483C>T (p.Ile16161=)
c.22377C>T (p.Ile7459=)
c.22236C>T (p.Ile7412=)
c.48279C>T (p.Ile16093=)
c.43677C>T (p.Ile14559=)
c.43674C>T (p.Ile14558=)
c.40716C>T (p.Ile13572=)
c.22332C>T (p.Ile7444=)
c.43827C>T (p.Ile14609=)
c.43824C>T (p.Ile14608=)
c.43257C>T (p.Ile14419=)
c.40599C>T (p.Ile13533=)
c.40518C>T (p.Ile13506=)
c.22281C>T (p.Ile7427=)
c.12135C>T (p.Ile4045=)
 COSMIC COSMIC COSMIC COSMIC
2g.178613897G>CCA349604822TTN,TTN-AS1c.41682C>G (p.Ile13894Met)
c.22767C>G (p.Ile7589Met)
c.22566C>G (p.Ile7522Met)
c.22191C>G (p.Ile7397Met)
c.49386C>G (p.Ile16462Met)
c.44463C>G (p.Ile14821Met)
n.783-138G>C
c.48483C>G (p.Ile16161Met)
c.22377C>G (p.Ile7459Met)
c.22236C>G (p.Ile7412Met)
c.48279C>G (p.Ile16093Met)
c.43677C>G (p.Ile14559Met)
c.43674C>G (p.Ile14558Met)
c.40716C>G (p.Ile13572Met)
c.22332C>G (p.Ile7444Met)
c.43827C>G (p.Ile14609Met)
c.43824C>G (p.Ile14608Met)
c.43257C>G (p.Ile14419Met)
c.40599C>G (p.Ile13533Met)
c.40518C>G (p.Ile13506Met)
c.22281C>G (p.Ile7427Met)
c.12135C>G (p.Ile4045Met)
2g.178613897G>TCA430272898TTN,TTN-AS1c.41682C>A (p.Ile13894=)
c.22767C>A (p.Ile7589=)
c.22566C>A (p.Ile7522=)
c.22191C>A (p.Ile7397=)
c.49386C>A (p.Ile16462=)
c.44463C>A (p.Ile14821=)
n.783-138G>T
c.48483C>A (p.Ile16161=)
c.22377C>A (p.Ile7459=)
c.22236C>A (p.Ile7412=)
c.48279C>A (p.Ile16093=)
c.43677C>A (p.Ile14559=)
c.43674C>A (p.Ile14558=)
c.40716C>A (p.Ile13572=)
c.22332C>A (p.Ile7444=)
c.43827C>A (p.Ile14609=)
c.43824C>A (p.Ile14608=)
c.43257C>A (p.Ile14419=)
c.40599C>A (p.Ile13533=)
c.40518C>A (p.Ile13506=)
c.22281C>A (p.Ile7427=)
c.12135C>A (p.Ile4045=)
2g.178613898A>CCA349604825TTN,TTN-AS1c.41681T>G (p.Ile13894Ser)
c.22766T>G (p.Ile7589Ser)
c.22565T>G (p.Ile7522Ser)
c.22190T>G (p.Ile7397Ser)
c.49385T>G (p.Ile16462Ser)
c.44462T>G (p.Ile14821Ser)
n.783-137A>C
c.48482T>G (p.Ile16161Ser)
c.22376T>G (p.Ile7459Ser)
c.22235T>G (p.Ile7412Ser)
c.48278T>G (p.Ile16093Ser)
c.43676T>G (p.Ile14559Ser)
c.43673T>G (p.Ile14558Ser)
c.40715T>G (p.Ile13572Ser)
c.22331T>G (p.Ile7444Ser)
c.43826T>G (p.Ile14609Ser)
c.43823T>G (p.Ile14608Ser)
c.43256T>G (p.Ile14419Ser)
c.40598T>G (p.Ile13533Ser)
c.40517T>G (p.Ile13506Ser)
c.22280T>G (p.Ile7427Ser)
c.12134T>G (p.Ile4045Ser)
2g.178613898A>GCA349604827TTN,TTN-AS1c.41681T>C (p.Ile13894Thr)
c.22766T>C (p.Ile7589Thr)
c.22565T>C (p.Ile7522Thr)
c.22190T>C (p.Ile7397Thr)
c.49385T>C (p.Ile16462Thr)
c.44462T>C (p.Ile14821Thr)
n.783-137A>G
c.48482T>C (p.Ile16161Thr)
c.22376T>C (p.Ile7459Thr)
c.22235T>C (p.Ile7412Thr)
c.48278T>C (p.Ile16093Thr)
c.43676T>C (p.Ile14559Thr)
c.43673T>C (p.Ile14558Thr)
c.40715T>C (p.Ile13572Thr)
c.22331T>C (p.Ile7444Thr)
c.43826T>C (p.Ile14609Thr)
c.43823T>C (p.Ile14608Thr)
c.43256T>C (p.Ile14419Thr)
c.40598T>C (p.Ile13533Thr)
c.40517T>C (p.Ile13506Thr)
c.22280T>C (p.Ile7427Thr)
c.12134T>C (p.Ile4045Thr)
2g.178613898A>TCA349604833TTN,TTN-AS1c.41681T>A (p.Ile13894Asn)
c.22766T>A (p.Ile7589Asn)
c.22565T>A (p.Ile7522Asn)
c.22190T>A (p.Ile7397Asn)
c.49385T>A (p.Ile16462Asn)
c.44462T>A (p.Ile14821Asn)
n.783-137A>T
c.48482T>A (p.Ile16161Asn)
c.22376T>A (p.Ile7459Asn)
c.22235T>A (p.Ile7412Asn)
c.48278T>A (p.Ile16093Asn)
c.43676T>A (p.Ile14559Asn)
c.43673T>A (p.Ile14558Asn)
c.40715T>A (p.Ile13572Asn)
c.22331T>A (p.Ile7444Asn)
c.43826T>A (p.Ile14609Asn)
c.43823T>A (p.Ile14608Asn)
c.43256T>A (p.Ile14419Asn)
c.40598T>A (p.Ile13533Asn)
c.40517T>A (p.Ile13506Asn)
c.22280T>A (p.Ile7427Asn)
c.12134T>A (p.Ile4045Asn)
2g.178613899T>ACA349604838TTN,TTN-AS1c.41680A>T (p.Ile13894Phe)
c.22765A>T (p.Ile7589Phe)
c.22564A>T (p.Ile7522Phe)
c.22189A>T (p.Ile7397Phe)
c.49384A>T (p.Ile16462Phe)
c.44461A>T (p.Ile14821Phe)
n.783-136T>A
c.48481A>T (p.Ile16161Phe)
c.22375A>T (p.Ile7459Phe)
c.22234A>T (p.Ile7412Phe)
c.48277A>T (p.Ile16093Phe)
c.43675A>T (p.Ile14559Phe)
c.43672A>T (p.Ile14558Phe)
c.40714A>T (p.Ile13572Phe)
c.22330A>T (p.Ile7444Phe)
c.43825A>T (p.Ile14609Phe)
c.43822A>T (p.Ile14608Phe)
c.43255A>T (p.Ile14419Phe)
c.40597A>T (p.Ile13533Phe)
c.40516A>T (p.Ile13506Phe)
c.22279A>T (p.Ile7427Phe)
c.12133A>T (p.Ile4045Phe)
2g.178613899T>CCA349604839TTN,TTN-AS1c.41680A>G (p.Ile13894Val)
c.22765A>G (p.Ile7589Val)
c.22564A>G (p.Ile7522Val)
c.22189A>G (p.Ile7397Val)
c.49384A>G (p.Ile16462Val)
c.44461A>G (p.Ile14821Val)
n.783-136T>C
c.48481A>G (p.Ile16161Val)
c.22375A>G (p.Ile7459Val)
c.22234A>G (p.Ile7412Val)
c.48277A>G (p.Ile16093Val)
c.43675A>G (p.Ile14559Val)
c.43672A>G (p.Ile14558Val)
c.40714A>G (p.Ile13572Val)
c.22330A>G (p.Ile7444Val)
c.43825A>G (p.Ile14609Val)
c.43822A>G (p.Ile14608Val)
c.43255A>G (p.Ile14419Val)
c.40597A>G (p.Ile13533Val)
c.40516A>G (p.Ile13506Val)
c.22279A>G (p.Ile7427Val)
c.12133A>G (p.Ile4045Val)
 gnomAD v4
2g.178613899T>GCA349604844TTN,TTN-AS1c.41680A>C (p.Ile13894Leu)
c.22765A>C (p.Ile7589Leu)
c.22564A>C (p.Ile7522Leu)
c.22189A>C (p.Ile7397Leu)
c.49384A>C (p.Ile16462Leu)
c.44461A>C (p.Ile14821Leu)
n.783-136T>G
c.48481A>C (p.Ile16161Leu)
c.22375A>C (p.Ile7459Leu)
c.22234A>C (p.Ile7412Leu)
c.48277A>C (p.Ile16093Leu)
c.43675A>C (p.Ile14559Leu)
c.43672A>C (p.Ile14558Leu)
c.40714A>C (p.Ile13572Leu)
c.22330A>C (p.Ile7444Leu)
c.43825A>C (p.Ile14609Leu)
c.43822A>C (p.Ile14608Leu)
c.43255A>C (p.Ile14419Leu)
c.40597A>C (p.Ile13533Leu)
c.40516A>C (p.Ile13506Leu)
c.22279A>C (p.Ile7427Leu)
c.12133A>C (p.Ile4045Leu)
2g.178613900A=CA1310549120TTN,TTN-AS1c.41679T= (p.Asp13893=)
c.22764T= (p.Asp7588=)
c.22563T= (p.Asp7521=)
c.22188T= (p.Asp7396=)
c.49383T= (p.Asp16461=)
c.44460T= (p.Asp14820=)
n.783-135A=
c.48480T= (p.Asp16160=)
c.22374T= (p.Asp7458=)
c.22233T= (p.Asp7411=)
c.48276T= (p.Asp16092=)
c.43674T= (p.Asp14558=)
c.43671T= (p.Asp14557=)
c.40713T= (p.Asp13571=)
c.22329T= (p.Asp7443=)
c.43824T= (p.Asp14608=)
c.43821T= (p.Asp14607=)
c.43254T= (p.Asp14418=)
c.40596T= (p.Asp13532=)
c.40515T= (p.Asp13505=)
c.22278T= (p.Asp7426=)
c.12132T= (p.Asp4044=)
2g.178613900A>CCA349604849TTN,TTN-AS1c.41679T>G (p.Asp13893Glu)
c.22764T>G (p.Asp7588Glu)
c.22563T>G (p.Asp7521Glu)
c.22188T>G (p.Asp7396Glu)
c.49383T>G (p.Asp16461Glu)
c.44460T>G (p.Asp14820Glu)
n.783-135A>C
c.48480T>G (p.Asp16160Glu)
c.22374T>G (p.Asp7458Glu)
c.22233T>G (p.Asp7411Glu)
c.48276T>G (p.Asp16092Glu)
c.43674T>G (p.Asp14558Glu)
c.43671T>G (p.Asp14557Glu)
c.40713T>G (p.Asp13571Glu)
c.22329T>G (p.Asp7443Glu)
c.43824T>G (p.Asp14608Glu)
c.43821T>G (p.Asp14607Glu)
c.43254T>G (p.Asp14418Glu)
c.40596T>G (p.Asp13532Glu)
c.40515T>G (p.Asp13505Glu)
c.22278T>G (p.Asp7426Glu)
c.12132T>G (p.Asp4044Glu)
2g.178613900A>GCA430272901TTN,TTN-AS1c.41679T>C (p.Asp13893=)
c.22764T>C (p.Asp7588=)
c.22563T>C (p.Asp7521=)
c.22188T>C (p.Asp7396=)
c.49383T>C (p.Asp16461=)
c.44460T>C (p.Asp14820=)
n.783-135A>G
c.48480T>C (p.Asp16160=)
c.22374T>C (p.Asp7458=)
c.22233T>C (p.Asp7411=)
c.48276T>C (p.Asp16092=)
c.43674T>C (p.Asp14558=)
c.43671T>C (p.Asp14557=)
c.40713T>C (p.Asp13571=)
c.22329T>C (p.Asp7443=)
c.43824T>C (p.Asp14608=)
c.43821T>C (p.Asp14607=)
c.43254T>C (p.Asp14418=)
c.40596T>C (p.Asp13532=)
c.40515T>C (p.Asp13505=)
c.22278T>C (p.Asp7426=)
c.12132T>C (p.Asp4044=)
 dbSNP gnomAD v2
2g.178613900A>TCA349604852TTN,TTN-AS1c.41679T>A (p.Asp13893Glu)
c.22764T>A (p.Asp7588Glu)
c.22563T>A (p.Asp7521Glu)
c.22188T>A (p.Asp7396Glu)
c.49383T>A (p.Asp16461Glu)
c.44460T>A (p.Asp14820Glu)
n.783-135A>T
c.48480T>A (p.Asp16160Glu)
c.22374T>A (p.Asp7458Glu)
c.22233T>A (p.Asp7411Glu)
c.48276T>A (p.Asp16092Glu)
c.43674T>A (p.Asp14558Glu)
c.43671T>A (p.Asp14557Glu)
c.40713T>A (p.Asp13571Glu)
c.22329T>A (p.Asp7443Glu)
c.43824T>A (p.Asp14608Glu)
c.43821T>A (p.Asp14607Glu)
c.43254T>A (p.Asp14418Glu)
c.40596T>A (p.Asp13532Glu)
c.40515T>A (p.Asp13505Glu)
c.22278T>A (p.Asp7426Glu)
c.12132T>A (p.Asp4044Glu)
2g.178613901T>ACA349604854TTN,TTN-AS1c.41678A>T (p.Asp13893Val)
c.22763A>T (p.Asp7588Val)
c.22562A>T (p.Asp7521Val)
c.22187A>T (p.Asp7396Val)
c.49382A>T (p.Asp16461Val)
c.44459A>T (p.Asp14820Val)
n.783-134T>A
c.48479A>T (p.Asp16160Val)
c.22373A>T (p.Asp7458Val)
c.22232A>T (p.Asp7411Val)
c.48275A>T (p.Asp16092Val)
c.43673A>T (p.Asp14558Val)
c.43670A>T (p.Asp14557Val)
c.40712A>T (p.Asp13571Val)
c.22328A>T (p.Asp7443Val)
c.43823A>T (p.Asp14608Val)
c.43820A>T (p.Asp14607Val)
c.43253A>T (p.Asp14418Val)
c.40595A>T (p.Asp13532Val)
c.40514A>T (p.Asp13505Val)
c.22277A>T (p.Asp7426Val)
c.12131A>T (p.Asp4044Val)
2g.178613901T>CCA349604855TTN,TTN-AS1c.41678A>G (p.Asp13893Gly)
c.22763A>G (p.Asp7588Gly)
c.22562A>G (p.Asp7521Gly)
c.22187A>G (p.Asp7396Gly)
c.49382A>G (p.Asp16461Gly)
c.44459A>G (p.Asp14820Gly)
n.783-134T>C
c.48479A>G (p.Asp16160Gly)
c.22373A>G (p.Asp7458Gly)
c.22232A>G (p.Asp7411Gly)
c.48275A>G (p.Asp16092Gly)
c.43673A>G (p.Asp14558Gly)
c.43670A>G (p.Asp14557Gly)
c.40712A>G (p.Asp13571Gly)
c.22328A>G (p.Asp7443Gly)
c.43823A>G (p.Asp14608Gly)
c.43820A>G (p.Asp14607Gly)
c.43253A>G (p.Asp14418Gly)
c.40595A>G (p.Asp13532Gly)
c.40514A>G (p.Asp13505Gly)
c.22277A>G (p.Asp7426Gly)
c.12131A>G (p.Asp4044Gly)
 gnomAD v4
2g.178613901T>GCA349604857TTN,TTN-AS1c.41678A>C (p.Asp13893Ala)
c.22763A>C (p.Asp7588Ala)
c.22562A>C (p.Asp7521Ala)
c.22187A>C (p.Asp7396Ala)
c.49382A>C (p.Asp16461Ala)
c.44459A>C (p.Asp14820Ala)
n.783-134T>G
c.48479A>C (p.Asp16160Ala)
c.22373A>C (p.Asp7458Ala)
c.22232A>C (p.Asp7411Ala)
c.48275A>C (p.Asp16092Ala)
c.43673A>C (p.Asp14558Ala)
c.43670A>C (p.Asp14557Ala)
c.40712A>C (p.Asp13571Ala)
c.22328A>C (p.Asp7443Ala)
c.43823A>C (p.Asp14608Ala)
c.43820A>C (p.Asp14607Ala)
c.43253A>C (p.Asp14418Ala)
c.40595A>C (p.Asp13532Ala)
c.40514A>C (p.Asp13505Ala)
c.22277A>C (p.Asp7426Ala)
c.12131A>C (p.Asp4044Ala)
2g.178613902C>ACA349604860TTN,TTN-AS1c.41677G>T (p.Asp13893Tyr)
c.22762G>T (p.Asp7588Tyr)
c.22561G>T (p.Asp7521Tyr)
c.22186G>T (p.Asp7396Tyr)
c.49381G>T (p.Asp16461Tyr)
c.44458G>T (p.Asp14820Tyr)
n.783-133C>A
c.48478G>T (p.Asp16160Tyr)
c.22372G>T (p.Asp7458Tyr)
c.22231G>T (p.Asp7411Tyr)
c.48274G>T (p.Asp16092Tyr)
c.43672G>T (p.Asp14558Tyr)
c.43669G>T (p.Asp14557Tyr)
c.40711G>T (p.Asp13571Tyr)
c.22327G>T (p.Asp7443Tyr)
c.43822G>T (p.Asp14608Tyr)
c.43819G>T (p.Asp14607Tyr)
c.43252G>T (p.Asp14418Tyr)
c.40594G>T (p.Asp13532Tyr)
c.40513G>T (p.Asp13505Tyr)
c.22276G>T (p.Asp7426Tyr)
c.12130G>T (p.Asp4044Tyr)
2g.178613902C>GCA349604861TTN,TTN-AS1c.41677G>C (p.Asp13893His)
c.22762G>C (p.Asp7588His)
c.22561G>C (p.Asp7521His)
c.22186G>C (p.Asp7396His)
c.49381G>C (p.Asp16461His)
c.44458G>C (p.Asp14820His)
n.783-133C>G
c.48478G>C (p.Asp16160His)
c.22372G>C (p.Asp7458His)
c.22231G>C (p.Asp7411His)
c.48274G>C (p.Asp16092His)
c.43672G>C (p.Asp14558His)
c.43669G>C (p.Asp14557His)
c.40711G>C (p.Asp13571His)
c.22327G>C (p.Asp7443His)
c.43822G>C (p.Asp14608His)
c.43819G>C (p.Asp14607His)
c.43252G>C (p.Asp14418His)
c.40594G>C (p.Asp13532His)
c.40513G>C (p.Asp13505His)
c.22276G>C (p.Asp7426His)
c.12130G>C (p.Asp4044His)
2g.178613902C>TCA349604864TTN,TTN-AS1c.41677G>A (p.Asp13893Asn)
c.22762G>A (p.Asp7588Asn)
c.22561G>A (p.Asp7521Asn)
c.22186G>A (p.Asp7396Asn)
c.49381G>A (p.Asp16461Asn)
c.44458G>A (p.Asp14820Asn)
n.783-133C>T
c.48478G>A (p.Asp16160Asn)
c.22372G>A (p.Asp7458Asn)
c.22231G>A (p.Asp7411Asn)
c.48274G>A (p.Asp16092Asn)
c.43672G>A (p.Asp14558Asn)
c.43669G>A (p.Asp14557Asn)
c.40711G>A (p.Asp13571Asn)
c.22327G>A (p.Asp7443Asn)
c.43822G>A (p.Asp14608Asn)
c.43819G>A (p.Asp14607Asn)
c.43252G>A (p.Asp14418Asn)
c.40594G>A (p.Asp13532Asn)
c.40513G>A (p.Asp13505Asn)
c.22276G>A (p.Asp7426Asn)
c.12130G>A (p.Asp4044Asn)
2g.178613903A>CCA430272902TTN,TTN-AS1c.41676T>G (p.Ser13892=)
c.22761T>G (p.Ser7587=)
c.22560T>G (p.Ser7520=)
c.22185T>G (p.Ser7395=)
c.49380T>G (p.Ser16460=)
c.44457T>G (p.Ser14819=)
n.783-132A>C
c.48477T>G (p.Ser16159=)
c.22371T>G (p.Ser7457=)
c.22230T>G (p.Ser7410=)
c.48273T>G (p.Ser16091=)
c.43671T>G (p.Ser14557=)
c.43668T>G (p.Ser14556=)
c.40710T>G (p.Ser13570=)
c.22326T>G (p.Ser7442=)
c.43821T>G (p.Ser14607=)
c.43818T>G (p.Ser14606=)
c.43251T>G (p.Ser14417=)
c.40593T>G (p.Ser13531=)
c.40512T>G (p.Ser13504=)
c.22275T>G (p.Ser7425=)
c.12129T>G (p.Ser4043=)
2g.178613903A>GCA430272903TTN,TTN-AS1c.41676T>C (p.Ser13892=)
c.22761T>C (p.Ser7587=)
c.22560T>C (p.Ser7520=)
c.22185T>C (p.Ser7395=)
c.49380T>C (p.Ser16460=)
c.44457T>C (p.Ser14819=)
n.783-132A>G
c.48477T>C (p.Ser16159=)
c.22371T>C (p.Ser7457=)
c.22230T>C (p.Ser7410=)
c.48273T>C (p.Ser16091=)
c.43671T>C (p.Ser14557=)
c.43668T>C (p.Ser14556=)
c.40710T>C (p.Ser13570=)
c.22326T>C (p.Ser7442=)
c.43821T>C (p.Ser14607=)
c.43818T>C (p.Ser14606=)
c.43251T>C (p.Ser14417=)
c.40593T>C (p.Ser13531=)
c.40512T>C (p.Ser13504=)
c.22275T>C (p.Ser7425=)
c.12129T>C (p.Ser4043=)
2g.178613903A>TCA430272904TTN,TTN-AS1c.41676T>A (p.Ser13892=)
c.22761T>A (p.Ser7587=)
c.22560T>A (p.Ser7520=)
c.22185T>A (p.Ser7395=)
c.49380T>A (p.Ser16460=)
c.44457T>A (p.Ser14819=)
n.783-132A>T
c.48477T>A (p.Ser16159=)
c.22371T>A (p.Ser7457=)
c.22230T>A (p.Ser7410=)
c.48273T>A (p.Ser16091=)
c.43671T>A (p.Ser14557=)
c.43668T>A (p.Ser14556=)
c.40710T>A (p.Ser13570=)
c.22326T>A (p.Ser7442=)
c.43821T>A (p.Ser14607=)
c.43818T>A (p.Ser14606=)
c.43251T>A (p.Ser14417=)
c.40593T>A (p.Ser13531=)
c.40512T>A (p.Ser13504=)
c.22275T>A (p.Ser7425=)
c.12129T>A (p.Ser4043=)
2g.178613904G>ACA349604865TTN,TTN-AS1c.41675C>T (p.Ser13892Phe)
c.22760C>T (p.Ser7587Phe)
c.22559C>T (p.Ser7520Phe)
c.22184C>T (p.Ser7395Phe)
c.49379C>T (p.Ser16460Phe)
c.44456C>T (p.Ser14819Phe)
n.783-131G>A
c.48476C>T (p.Ser16159Phe)
c.22370C>T (p.Ser7457Phe)
c.22229C>T (p.Ser7410Phe)
c.48272C>T (p.Ser16091Phe)
c.43670C>T (p.Ser14557Phe)
c.43667C>T (p.Ser14556Phe)
c.40709C>T (p.Ser13570Phe)
c.22325C>T (p.Ser7442Phe)
c.43820C>T (p.Ser14607Phe)
c.43817C>T (p.Ser14606Phe)
c.43250C>T (p.Ser14417Phe)
c.40592C>T (p.Ser13531Phe)
c.40511C>T (p.Ser13504Phe)
c.22274C>T (p.Ser7425Phe)
c.12128C>T (p.Ser4043Phe)
2g.178613904G>CCA139806TTN,TTN-AS1c.41675C>G (p.Ser13892Cys)
c.22760C>G (p.Ser7587Cys)
c.22559C>G (p.Ser7520Cys)
c.22184C>G (p.Ser7395Cys)
c.49379C>G (p.Ser16460Cys)
c.44456C>G (p.Ser14819Cys)
n.783-131G>C
c.48476C>G (p.Ser16159Cys)
c.22370C>G (p.Ser7457Cys)
c.22229C>G (p.Ser7410Cys)
c.48272C>G (p.Ser16091Cys)
c.43670C>G (p.Ser14557Cys)
c.43667C>G (p.Ser14556Cys)
c.40709C>G (p.Ser13570Cys)
c.22325C>G (p.Ser7442Cys)
c.43820C>G (p.Ser14607Cys)
c.43817C>G (p.Ser14606Cys)
c.43250C>G (p.Ser14417Cys)
c.40592C>G (p.Ser13531Cys)
c.40511C>G (p.Ser13504Cys)
c.22274C>G (p.Ser7425Cys)
c.12128C>G (p.Ser4043Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178613904G=CA1310549121TTN,TTN-AS1c.41675C= (p.Ser13892=)
c.22760C= (p.Ser7587=)
c.22559C= (p.Ser7520=)
c.22184C= (p.Ser7395=)
c.49379C= (p.Ser16460=)
c.44456C= (p.Ser14819=)
n.783-131G=
c.48476C= (p.Ser16159=)
c.22370C= (p.Ser7457=)
c.22229C= (p.Ser7410=)
c.48272C= (p.Ser16091=)
c.43670C= (p.Ser14557=)
c.43667C= (p.Ser14556=)
c.40709C= (p.Ser13570=)
c.22325C= (p.Ser7442=)
c.43820C= (p.Ser14607=)
c.43817C= (p.Ser14606=)
c.43250C= (p.Ser14417=)
c.40592C= (p.Ser13531=)
c.40511C= (p.Ser13504=)
c.22274C= (p.Ser7425=)
c.12128C= (p.Ser4043=)
2g.178613904G>TCA349604870TTN,TTN-AS1c.41675C>A (p.Ser13892Tyr)
c.22760C>A (p.Ser7587Tyr)
c.22559C>A (p.Ser7520Tyr)
c.22184C>A (p.Ser7395Tyr)
c.49379C>A (p.Ser16460Tyr)
c.44456C>A (p.Ser14819Tyr)
n.783-131G>T
c.48476C>A (p.Ser16159Tyr)
c.22370C>A (p.Ser7457Tyr)
c.22229C>A (p.Ser7410Tyr)
c.48272C>A (p.Ser16091Tyr)
c.43670C>A (p.Ser14557Tyr)
c.43667C>A (p.Ser14556Tyr)
c.40709C>A (p.Ser13570Tyr)
c.22325C>A (p.Ser7442Tyr)
c.43820C>A (p.Ser14607Tyr)
c.43817C>A (p.Ser14606Tyr)
c.43250C>A (p.Ser14417Tyr)
c.40592C>A (p.Ser13531Tyr)
c.40511C>A (p.Ser13504Tyr)
c.22274C>A (p.Ser7425Tyr)
c.12128C>A (p.Ser4043Tyr)
2g.178613905A>CCA349604874TTN,TTN-AS1c.41674T>G (p.Ser13892Ala)
c.22759T>G (p.Ser7587Ala)
c.22558T>G (p.Ser7520Ala)
c.22183T>G (p.Ser7395Ala)
c.49378T>G (p.Ser16460Ala)
c.44455T>G (p.Ser14819Ala)
n.783-130A>C
c.48475T>G (p.Ser16159Ala)
c.22369T>G (p.Ser7457Ala)
c.22228T>G (p.Ser7410Ala)
c.48271T>G (p.Ser16091Ala)
c.43669T>G (p.Ser14557Ala)
c.43666T>G (p.Ser14556Ala)
c.40708T>G (p.Ser13570Ala)
c.22324T>G (p.Ser7442Ala)
c.43819T>G (p.Ser14607Ala)
c.43816T>G (p.Ser14606Ala)
c.43249T>G (p.Ser14417Ala)
c.40591T>G (p.Ser13531Ala)
c.40510T>G (p.Ser13504Ala)
c.22273T>G (p.Ser7425Ala)
c.12127T>G (p.Ser4043Ala)
2g.178613905A>GCA349604875TTN,TTN-AS1c.41674T>C (p.Ser13892Pro)
c.22759T>C (p.Ser7587Pro)
c.22558T>C (p.Ser7520Pro)
c.22183T>C (p.Ser7395Pro)
c.49378T>C (p.Ser16460Pro)
c.44455T>C (p.Ser14819Pro)
n.783-130A>G
c.48475T>C (p.Ser16159Pro)
c.22369T>C (p.Ser7457Pro)
c.22228T>C (p.Ser7410Pro)
c.48271T>C (p.Ser16091Pro)
c.43669T>C (p.Ser14557Pro)
c.43666T>C (p.Ser14556Pro)
c.40708T>C (p.Ser13570Pro)
c.22324T>C (p.Ser7442Pro)
c.43819T>C (p.Ser14607Pro)
c.43816T>C (p.Ser14606Pro)
c.43249T>C (p.Ser14417Pro)
c.40591T>C (p.Ser13531Pro)
c.40510T>C (p.Ser13504Pro)
c.22273T>C (p.Ser7425Pro)
c.12127T>C (p.Ser4043Pro)
2g.178613905A>TCA349604878TTN,TTN-AS1c.41674T>A (p.Ser13892Thr)
c.22759T>A (p.Ser7587Thr)
c.22558T>A (p.Ser7520Thr)
c.22183T>A (p.Ser7395Thr)
c.49378T>A (p.Ser16460Thr)
c.44455T>A (p.Ser14819Thr)
n.783-130A>T
c.48475T>A (p.Ser16159Thr)
c.22369T>A (p.Ser7457Thr)
c.22228T>A (p.Ser7410Thr)
c.48271T>A (p.Ser16091Thr)
c.43669T>A (p.Ser14557Thr)
c.43666T>A (p.Ser14556Thr)
c.40708T>A (p.Ser13570Thr)
c.22324T>A (p.Ser7442Thr)
c.43819T>A (p.Ser14607Thr)
c.43816T>A (p.Ser14606Thr)
c.43249T>A (p.Ser14417Thr)
c.40591T>A (p.Ser13531Thr)
c.40510T>A (p.Ser13504Thr)
c.22273T>A (p.Ser7425Thr)
c.12127T>A (p.Ser4043Thr)
2g.178613906dupCA2580064975TTN,TTN-AS1c.41674dup (p.Ser13892PhefsTer2)
c.22759dup (p.Ser7587PhefsTer2)
c.22558dup (p.Ser7520PhefsTer2)
c.22183dup (p.Ser7395PhefsTer2)
c.49378dup (p.Ser16460PhefsTer2)
c.44455dup (p.Ser14819PhefsTer2)
n.783-129dup
c.48475dup (p.Ser16159PhefsTer2)
c.22369dup (p.Ser7457PhefsTer2)
c.22228dup (p.Ser7410PhefsTer2)
c.48271dup (p.Ser16091PhefsTer2)
c.43669dup (p.Ser14557PhefsTer2)
c.43666dup (p.Ser14556PhefsTer2)
c.40708dup (p.Ser13570PhefsTer2)
c.22324dup (p.Ser7442PhefsTer2)
c.43819dup (p.Ser14607PhefsTer2)
c.43816dup (p.Ser14606PhefsTer2)
c.43249dup (p.Ser14417PhefsTer2)
c.40591dup (p.Ser13531PhefsTer2)
c.40510dup (p.Ser13504PhefsTer2)
c.22273dup (p.Ser7425PhefsTer2)
c.12127dup (p.Ser4043PhefsTer2)
 ClinVar
2g.178613906A=CA1310549122TTN,TTN-AS1c.41673T= (p.Pro13891=)
c.22758T= (p.Pro7586=)
c.22557T= (p.Pro7519=)
c.22182T= (p.Pro7394=)
c.49377T= (p.Pro16459=)
c.44454T= (p.Pro14818=)
n.783-129A=
c.48474T= (p.Pro16158=)
c.22368T= (p.Pro7456=)
c.22227T= (p.Pro7409=)
c.48270T= (p.Pro16090=)
c.43668T= (p.Pro14556=)
c.43665T= (p.Pro14555=)
c.40707T= (p.Pro13569=)
c.22323T= (p.Pro7441=)
c.43818T= (p.Pro14606=)
c.43815T= (p.Pro14605=)
c.43248T= (p.Pro14416=)
c.40590T= (p.Pro13530=)
c.40509T= (p.Pro13503=)
c.22272T= (p.Pro7424=)
c.12126T= (p.Pro4042=)
2g.178613906A>CCA430272907TTN,TTN-AS1c.41673T>G (p.Pro13891=)
c.22758T>G (p.Pro7586=)
c.22557T>G (p.Pro7519=)
c.22182T>G (p.Pro7394=)
c.49377T>G (p.Pro16459=)
c.44454T>G (p.Pro14818=)
n.783-129A>C
c.48474T>G (p.Pro16158=)
c.22368T>G (p.Pro7456=)
c.22227T>G (p.Pro7409=)
c.48270T>G (p.Pro16090=)
c.43668T>G (p.Pro14556=)
c.43665T>G (p.Pro14555=)
c.40707T>G (p.Pro13569=)
c.22323T>G (p.Pro7441=)
c.43818T>G (p.Pro14606=)
c.43815T>G (p.Pro14605=)
c.43248T>G (p.Pro14416=)
c.40590T>G (p.Pro13530=)
c.40509T>G (p.Pro13503=)
c.22272T>G (p.Pro7424=)
c.12126T>G (p.Pro4042=)
2g.178613906A>GCA430272908TTN,TTN-AS1c.41673T>C (p.Pro13891=)
c.22758T>C (p.Pro7586=)
c.22557T>C (p.Pro7519=)
c.22182T>C (p.Pro7394=)
c.49377T>C (p.Pro16459=)
c.44454T>C (p.Pro14818=)
n.783-129A>G
c.48474T>C (p.Pro16158=)
c.22368T>C (p.Pro7456=)
c.22227T>C (p.Pro7409=)
c.48270T>C (p.Pro16090=)
c.43668T>C (p.Pro14556=)
c.43665T>C (p.Pro14555=)
c.40707T>C (p.Pro13569=)
c.22323T>C (p.Pro7441=)
c.43818T>C (p.Pro14606=)
c.43815T>C (p.Pro14605=)
c.43248T>C (p.Pro14416=)
c.40590T>C (p.Pro13530=)
c.40509T>C (p.Pro13503=)
c.22272T>C (p.Pro7424=)
c.12126T>C (p.Pro4042=)
2g.178613906A>TCA1994609TTN,TTN-AS1c.41673T>A (p.Pro13891=)
c.22758T>A (p.Pro7586=)
c.22557T>A (p.Pro7519=)
c.22182T>A (p.Pro7394=)
c.49377T>A (p.Pro16459=)
c.44454T>A (p.Pro14818=)
n.783-129A>T
c.48474T>A (p.Pro16158=)
c.22368T>A (p.Pro7456=)
c.22227T>A (p.Pro7409=)
c.48270T>A (p.Pro16090=)
c.43668T>A (p.Pro14556=)
c.43665T>A (p.Pro14555=)
c.40707T>A (p.Pro13569=)
c.22323T>A (p.Pro7441=)
c.43818T>A (p.Pro14606=)
c.43815T>A (p.Pro14605=)
c.43248T>A (p.Pro14416=)
c.40590T>A (p.Pro13530=)
c.40509T>A (p.Pro13503=)
c.22272T>A (p.Pro7424=)
c.12126T>A (p.Pro4042=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178613907G>ACA349604882TTN,TTN-AS1c.41672C>T (p.Pro13891Leu)
c.22757C>T (p.Pro7586Leu)
c.22556C>T (p.Pro7519Leu)
c.22181C>T (p.Pro7394Leu)
c.49376C>T (p.Pro16459Leu)
c.44453C>T (p.Pro14818Leu)
n.783-128G>A
c.48473C>T (p.Pro16158Leu)
c.22367C>T (p.Pro7456Leu)
c.22226C>T (p.Pro7409Leu)
c.48269C>T (p.Pro16090Leu)
c.43667C>T (p.Pro14556Leu)
c.43664C>T (p.Pro14555Leu)
c.40706C>T (p.Pro13569Leu)
c.22322C>T (p.Pro7441Leu)
c.43817C>T (p.Pro14606Leu)
c.43814C>T (p.Pro14605Leu)
c.43247C>T (p.Pro14416Leu)
c.40589C>T (p.Pro13530Leu)
c.40508C>T (p.Pro13503Leu)
c.22271C>T (p.Pro7424Leu)
c.12125C>T (p.Pro4042Leu)
2g.178613907G>CCA349604880TTN,TTN-AS1c.41672C>G (p.Pro13891Arg)
c.22757C>G (p.Pro7586Arg)
c.22556C>G (p.Pro7519Arg)
c.22181C>G (p.Pro7394Arg)
c.49376C>G (p.Pro16459Arg)
c.44453C>G (p.Pro14818Arg)
n.783-128G>C
c.48473C>G (p.Pro16158Arg)
c.22367C>G (p.Pro7456Arg)
c.22226C>G (p.Pro7409Arg)
c.48269C>G (p.Pro16090Arg)
c.43667C>G (p.Pro14556Arg)
c.43664C>G (p.Pro14555Arg)
c.40706C>G (p.Pro13569Arg)
c.22322C>G (p.Pro7441Arg)
c.43817C>G (p.Pro14606Arg)
c.43814C>G (p.Pro14605Arg)
c.43247C>G (p.Pro14416Arg)
c.40589C>G (p.Pro13530Arg)
c.40508C>G (p.Pro13503Arg)
c.22271C>G (p.Pro7424Arg)
c.12125C>G (p.Pro4042Arg)
2g.178613907G>TCA349604881TTN,TTN-AS1c.41672C>A (p.Pro13891His)
c.22757C>A (p.Pro7586His)
c.22556C>A (p.Pro7519His)
c.22181C>A (p.Pro7394His)
c.49376C>A (p.Pro16459His)
c.44453C>A (p.Pro14818His)
n.783-128G>T
c.48473C>A (p.Pro16158His)
c.22367C>A (p.Pro7456His)
c.22226C>A (p.Pro7409His)
c.48269C>A (p.Pro16090His)
c.43667C>A (p.Pro14556His)
c.43664C>A (p.Pro14555His)
c.40706C>A (p.Pro13569His)
c.22322C>A (p.Pro7441His)
c.43817C>A (p.Pro14606His)
c.43814C>A (p.Pro14605His)
c.43247C>A (p.Pro14416His)
c.40589C>A (p.Pro13530His)
c.40508C>A (p.Pro13503His)
c.22271C>A (p.Pro7424His)
c.12125C>A (p.Pro4042His)
2g.178613908G>ACA349604883TTN,TTN-AS1c.41671C>T (p.Pro13891Ser)
c.22756C>T (p.Pro7586Ser)
c.22555C>T (p.Pro7519Ser)
c.22180C>T (p.Pro7394Ser)
c.49375C>T (p.Pro16459Ser)
c.44452C>T (p.Pro14818Ser)
n.783-127G>A
c.48472C>T (p.Pro16158Ser)
c.22366C>T (p.Pro7456Ser)
c.22225C>T (p.Pro7409Ser)
c.48268C>T (p.Pro16090Ser)
c.43666C>T (p.Pro14556Ser)
c.43663C>T (p.Pro14555Ser)
c.40705C>T (p.Pro13569Ser)
c.22321C>T (p.Pro7441Ser)
c.43816C>T (p.Pro14606Ser)
c.43813C>T (p.Pro14605Ser)
c.43246C>T (p.Pro14416Ser)
c.40588C>T (p.Pro13530Ser)
c.40507C>T (p.Pro13503Ser)
c.22270C>T (p.Pro7424Ser)
c.12124C>T (p.Pro4042Ser)
 COSMIC COSMIC COSMIC COSMIC
2g.178613908G>CCA349604884TTN,TTN-AS1c.41671C>G (p.Pro13891Ala)
c.22756C>G (p.Pro7586Ala)
c.22555C>G (p.Pro7519Ala)
c.22180C>G (p.Pro7394Ala)
c.49375C>G (p.Pro16459Ala)
c.44452C>G (p.Pro14818Ala)
n.783-127G>C
c.48472C>G (p.Pro16158Ala)
c.22366C>G (p.Pro7456Ala)
c.22225C>G (p.Pro7409Ala)
c.48268C>G (p.Pro16090Ala)
c.43666C>G (p.Pro14556Ala)
c.43663C>G (p.Pro14555Ala)
c.40705C>G (p.Pro13569Ala)
c.22321C>G (p.Pro7441Ala)
c.43816C>G (p.Pro14606Ala)
c.43813C>G (p.Pro14605Ala)
c.43246C>G (p.Pro14416Ala)
c.40588C>G (p.Pro13530Ala)
c.40507C>G (p.Pro13503Ala)
c.22270C>G (p.Pro7424Ala)
c.12124C>G (p.Pro4042Ala)
2g.178613908G=CA1310549123TTN,TTN-AS1c.41671C= (p.Pro13891=)
c.22756C= (p.Pro7586=)
c.22555C= (p.Pro7519=)
c.22180C= (p.Pro7394=)
c.49375C= (p.Pro16459=)
c.44452C= (p.Pro14818=)
n.783-127G=
c.48472C= (p.Pro16158=)
c.22366C= (p.Pro7456=)
c.22225C= (p.Pro7409=)
c.48268C= (p.Pro16090=)
c.43666C= (p.Pro14556=)
c.43663C= (p.Pro14555=)
c.40705C= (p.Pro13569=)
c.22321C= (p.Pro7441=)
c.43816C= (p.Pro14606=)
c.43813C= (p.Pro14605=)
c.43246C= (p.Pro14416=)
c.40588C= (p.Pro13530=)
c.40507C= (p.Pro13503=)
c.22270C= (p.Pro7424=)
c.12124C= (p.Pro4042=)
2g.178613908G>TCA349604886TTN,TTN-AS1c.41671C>A (p.Pro13891Thr)
c.22756C>A (p.Pro7586Thr)
c.22555C>A (p.Pro7519Thr)
c.22180C>A (p.Pro7394Thr)
c.49375C>A (p.Pro16459Thr)
c.44452C>A (p.Pro14818Thr)
n.783-127G>T
c.48472C>A (p.Pro16158Thr)
c.22366C>A (p.Pro7456Thr)
c.22225C>A (p.Pro7409Thr)
c.48268C>A (p.Pro16090Thr)
c.43666C>A (p.Pro14556Thr)
c.43663C>A (p.Pro14555Thr)
c.40705C>A (p.Pro13569Thr)
c.22321C>A (p.Pro7441Thr)
c.43816C>A (p.Pro14606Thr)
c.43813C>A (p.Pro14605Thr)
c.43246C>A (p.Pro14416Thr)
c.40588C>A (p.Pro13530Thr)
c.40507C>A (p.Pro13503Thr)
c.22270C>A (p.Pro7424Thr)
c.12124C>A (p.Pro4042Thr)
 dbSNP
2g.178613909T>ACA349604889TTN,TTN-AS1c.41670A>T (p.Glu13890Asp)
c.22755A>T (p.Glu7585Asp)
c.22554A>T (p.Glu7518Asp)
c.22179A>T (p.Glu7393Asp)
c.49374A>T (p.Glu16458Asp)
c.44451A>T (p.Glu14817Asp)
n.783-126T>A
c.48471A>T (p.Glu16157Asp)
c.22365A>T (p.Glu7455Asp)
c.22224A>T (p.Glu7408Asp)
c.48267A>T (p.Glu16089Asp)
c.43665A>T (p.Glu14555Asp)
c.43662A>T (p.Glu14554Asp)
c.40704A>T (p.Glu13568Asp)
c.22320A>T (p.Glu7440Asp)
c.43815A>T (p.Glu14605Asp)
c.43812A>T (p.Glu14604Asp)
c.43245A>T (p.Glu14415Asp)
c.40587A>T (p.Glu13529Asp)
c.40506A>T (p.Glu13502Asp)
c.22269A>T (p.Glu7423Asp)
c.12123A>T (p.Glu4041Asp)
2g.178613909T>CCA430272909TTN,TTN-AS1c.41670A>G (p.Glu13890=)
c.22755A>G (p.Glu7585=)
c.22554A>G (p.Glu7518=)
c.22179A>G (p.Glu7393=)
c.49374A>G (p.Glu16458=)
c.44451A>G (p.Glu14817=)
n.783-126T>C
c.48471A>G (p.Glu16157=)
c.22365A>G (p.Glu7455=)
c.22224A>G (p.Glu7408=)
c.48267A>G (p.Glu16089=)
c.43665A>G (p.Glu14555=)
c.43662A>G (p.Glu14554=)
c.40704A>G (p.Glu13568=)
c.22320A>G (p.Glu7440=)
c.43815A>G (p.Glu14605=)
c.43812A>G (p.Glu14604=)
c.43245A>G (p.Glu14415=)
c.40587A>G (p.Glu13529=)
c.40506A>G (p.Glu13502=)
c.22269A>G (p.Glu7423=)
c.12123A>G (p.Glu4041=)
2g.178613909T>GCA349604894TTN,TTN-AS1c.41670A>C (p.Glu13890Asp)
c.22755A>C (p.Glu7585Asp)
c.22554A>C (p.Glu7518Asp)
c.22179A>C (p.Glu7393Asp)
c.49374A>C (p.Glu16458Asp)
c.44451A>C (p.Glu14817Asp)
n.783-126T>G
c.48471A>C (p.Glu16157Asp)
c.22365A>C (p.Glu7455Asp)
c.22224A>C (p.Glu7408Asp)
c.48267A>C (p.Glu16089Asp)
c.43665A>C (p.Glu14555Asp)
c.43662A>C (p.Glu14554Asp)
c.40704A>C (p.Glu13568Asp)
c.22320A>C (p.Glu7440Asp)
c.43815A>C (p.Glu14605Asp)
c.43812A>C (p.Glu14604Asp)
c.43245A>C (p.Glu14415Asp)
c.40587A>C (p.Glu13529Asp)
c.40506A>C (p.Glu13502Asp)
c.22269A>C (p.Glu7423Asp)
c.12123A>C (p.Glu4041Asp)
2g.178613910T>ACA349604897TTN,TTN-AS1c.41669A>T (p.Glu13890Val)
c.22754A>T (p.Glu7585Val)
c.22553A>T (p.Glu7518Val)
c.22178A>T (p.Glu7393Val)
c.49373A>T (p.Glu16458Val)
c.44450A>T (p.Glu14817Val)
n.783-125T>A
c.48470A>T (p.Glu16157Val)
c.22364A>T (p.Glu7455Val)
c.22223A>T (p.Glu7408Val)
c.48266A>T (p.Glu16089Val)
c.43664A>T (p.Glu14555Val)
c.43661A>T (p.Glu14554Val)
c.40703A>T (p.Glu13568Val)
c.22319A>T (p.Glu7440Val)
c.43814A>T (p.Glu14605Val)
c.43811A>T (p.Glu14604Val)
c.43244A>T (p.Glu14415Val)
c.40586A>T (p.Glu13529Val)
c.40505A>T (p.Glu13502Val)
c.22268A>T (p.Glu7423Val)
c.12122A>T (p.Glu4041Val)
2g.178613910T>CCA349604898TTN,TTN-AS1c.41669A>G (p.Glu13890Gly)
c.22754A>G (p.Glu7585Gly)
c.22553A>G (p.Glu7518Gly)
c.22178A>G (p.Glu7393Gly)
c.49373A>G (p.Glu16458Gly)
c.44450A>G (p.Glu14817Gly)
n.783-125T>C
c.48470A>G (p.Glu16157Gly)
c.22364A>G (p.Glu7455Gly)
c.22223A>G (p.Glu7408Gly)
c.48266A>G (p.Glu16089Gly)
c.43664A>G (p.Glu14555Gly)
c.43661A>G (p.Glu14554Gly)
c.40703A>G (p.Glu13568Gly)
c.22319A>G (p.Glu7440Gly)
c.43814A>G (p.Glu14605Gly)
c.43811A>G (p.Glu14604Gly)
c.43244A>G (p.Glu14415Gly)
c.40586A>G (p.Glu13529Gly)
c.40505A>G (p.Glu13502Gly)
c.22268A>G (p.Glu7423Gly)
c.12122A>G (p.Glu4041Gly)
2g.178613910T>GCA349604899TTN,TTN-AS1c.41669A>C (p.Glu13890Ala)
c.22754A>C (p.Glu7585Ala)
c.22553A>C (p.Glu7518Ala)
c.22178A>C (p.Glu7393Ala)
c.49373A>C (p.Glu16458Ala)
c.44450A>C (p.Glu14817Ala)
n.783-125T>G
c.48470A>C (p.Glu16157Ala)
c.22364A>C (p.Glu7455Ala)
c.22223A>C (p.Glu7408Ala)
c.48266A>C (p.Glu16089Ala)
c.43664A>C (p.Glu14555Ala)
c.43661A>C (p.Glu14554Ala)
c.40703A>C (p.Glu13568Ala)
c.22319A>C (p.Glu7440Ala)
c.43814A>C (p.Glu14605Ala)
c.43811A>C (p.Glu14604Ala)
c.43244A>C (p.Glu14415Ala)
c.40586A>C (p.Glu13529Ala)
c.40505A>C (p.Glu13502Ala)
c.22268A>C (p.Glu7423Ala)
c.12122A>C (p.Glu4041Ala)
2g.178613911C>ACA349604900TTN,TTN-AS1c.41668G>T (p.Glu13890Ter)
c.22753G>T (p.Glu7585Ter)
c.22552G>T (p.Glu7518Ter)
c.22177G>T (p.Glu7393Ter)
c.49372G>T (p.Glu16458Ter)
c.44449G>T (p.Glu14817Ter)
n.783-124C>A
c.48469G>T (p.Glu16157Ter)
c.22363G>T (p.Glu7455Ter)
c.22222G>T (p.Glu7408Ter)
c.48265G>T (p.Glu16089Ter)
c.43663G>T (p.Glu14555Ter)
c.43660G>T (p.Glu14554Ter)
c.40702G>T (p.Glu13568Ter)
c.22318G>T (p.Glu7440Ter)
c.43813G>T (p.Glu14605Ter)
c.43810G>T (p.Glu14604Ter)
c.43243G>T (p.Glu14415Ter)
c.40585G>T (p.Glu13529Ter)
c.40504G>T (p.Glu13502Ter)
c.22267G>T (p.Glu7423Ter)
c.12121G>T (p.Glu4041Ter)
2g.178613911C=CA1310549124TTN,TTN-AS1c.41668G= (p.Glu13890=)
c.22753G= (p.Glu7585=)
c.22552G= (p.Glu7518=)
c.22177G= (p.Glu7393=)
c.49372G= (p.Glu16458=)
c.44449G= (p.Glu14817=)
n.783-124C=
c.48469G= (p.Glu16157=)
c.22363G= (p.Glu7455=)
c.22222G= (p.Glu7408=)
c.48265G= (p.Glu16089=)
c.43663G= (p.Glu14555=)
c.43660G= (p.Glu14554=)
c.40702G= (p.Glu13568=)
c.22318G= (p.Glu7440=)
c.43813G= (p.Glu14605=)
c.43810G= (p.Glu14604=)
c.43243G= (p.Glu14415=)
c.40585G= (p.Glu13529=)
c.40504G= (p.Glu13502=)
c.22267G= (p.Glu7423=)
c.12121G= (p.Glu4041=)
2g.178613911C>GCA349604902TTN,TTN-AS1c.41668G>C (p.Glu13890Gln)
c.22753G>C (p.Glu7585Gln)
c.22552G>C (p.Glu7518Gln)
c.22177G>C (p.Glu7393Gln)
c.49372G>C (p.Glu16458Gln)
c.44449G>C (p.Glu14817Gln)
n.783-124C>G
c.48469G>C (p.Glu16157Gln)
c.22363G>C (p.Glu7455Gln)
c.22222G>C (p.Glu7408Gln)
c.48265G>C (p.Glu16089Gln)
c.43663G>C (p.Glu14555Gln)
c.43660G>C (p.Glu14554Gln)
c.40702G>C (p.Glu13568Gln)
c.22318G>C (p.Glu7440Gln)
c.43813G>C (p.Glu14605Gln)
c.43810G>C (p.Glu14604Gln)
c.43243G>C (p.Glu14415Gln)
c.40585G>C (p.Glu13529Gln)
c.40504G>C (p.Glu13502Gln)
c.22267G>C (p.Glu7423Gln)
c.12121G>C (p.Glu4041Gln)
2g.178613911C>TCA349604904TTN,TTN-AS1c.41668G>A (p.Glu13890Lys)
c.22753G>A (p.Glu7585Lys)
c.22552G>A (p.Glu7518Lys)
c.22177G>A (p.Glu7393Lys)
c.49372G>A (p.Glu16458Lys)
c.44449G>A (p.Glu14817Lys)
n.783-124C>T
c.48469G>A (p.Glu16157Lys)
c.22363G>A (p.Glu7455Lys)
c.22222G>A (p.Glu7408Lys)
c.48265G>A (p.Glu16089Lys)
c.43663G>A (p.Glu14555Lys)
c.43660G>A (p.Glu14554Lys)
c.40702G>A (p.Glu13568Lys)
c.22318G>A (p.Glu7440Lys)
c.43813G>A (p.Glu14605Lys)
c.43810G>A (p.Glu14604Lys)
c.43243G>A (p.Glu14415Lys)
c.40585G>A (p.Glu13529Lys)
c.40504G>A (p.Glu13502Lys)
c.22267G>A (p.Glu7423Lys)
c.12121G>A (p.Glu4041Lys)
 dbSNP
2g.178613912T>ACA283333TTN,TTN-AS1c.41667A>T (p.Leu13889=)
c.22752A>T (p.Leu7584=)
c.22551A>T (p.Leu7517=)
c.22176A>T (p.Leu7392=)
c.49371A>T (p.Leu16457=)
c.44448A>T (p.Leu14816=)
n.783-123T>A
c.48468A>T (p.Leu16156=)
c.22362A>T (p.Leu7454=)
c.22221A>T (p.Leu7407=)
c.48264A>T (p.Leu16088=)
c.43662A>T (p.Leu14554=)
c.43659A>T (p.Leu14553=)
c.40701A>T (p.Leu13567=)
c.22317A>T (p.Leu7439=)
c.43812A>T (p.Leu14604=)
c.43809A>T (p.Leu14603=)
c.43242A>T (p.Leu14414=)
c.40584A>T (p.Leu13528=)
c.40503A>T (p.Leu13501=)
c.22266A>T (p.Leu7422=)
c.12120A>T (p.Leu4040=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178613912T>CCA430272912TTN,TTN-AS1c.41667A>G (p.Leu13889=)
c.22752A>G (p.Leu7584=)
c.22551A>G (p.Leu7517=)
c.22176A>G (p.Leu7392=)
c.49371A>G (p.Leu16457=)
c.44448A>G (p.Leu14816=)
n.783-123T>C
c.48468A>G (p.Leu16156=)
c.22362A>G (p.Leu7454=)
c.22221A>G (p.Leu7407=)
c.48264A>G (p.Leu16088=)
c.43662A>G (p.Leu14554=)
c.43659A>G (p.Leu14553=)
c.40701A>G (p.Leu13567=)
c.22317A>G (p.Leu7439=)
c.43812A>G (p.Leu14604=)
c.43809A>G (p.Leu14603=)
c.43242A>G (p.Leu14414=)
c.40584A>G (p.Leu13528=)
c.40503A>G (p.Leu13501=)
c.22266A>G (p.Leu7422=)
c.12120A>G (p.Leu4040=)
2g.178613912T>GCA430272913TTN,TTN-AS1c.41667A>C (p.Leu13889=)
c.22752A>C (p.Leu7584=)
c.22551A>C (p.Leu7517=)
c.22176A>C (p.Leu7392=)
c.49371A>C (p.Leu16457=)
c.44448A>C (p.Leu14816=)
n.783-123T>G
c.48468A>C (p.Leu16156=)
c.22362A>C (p.Leu7454=)
c.22221A>C (p.Leu7407=)
c.48264A>C (p.Leu16088=)
c.43662A>C (p.Leu14554=)
c.43659A>C (p.Leu14553=)
c.40701A>C (p.Leu13567=)
c.22317A>C (p.Leu7439=)
c.43812A>C (p.Leu14604=)
c.43809A>C (p.Leu14603=)
c.43242A>C (p.Leu14414=)
c.40584A>C (p.Leu13528=)
c.40503A>C (p.Leu13501=)
c.22266A>C (p.Leu7422=)
c.12120A>C (p.Leu4040=)
2g.178613912T=CA1310549125TTN,TTN-AS1c.41667A= (p.Leu13889=)
c.22752A= (p.Leu7584=)
c.22551A= (p.Leu7517=)
c.22176A= (p.Leu7392=)
c.49371A= (p.Leu16457=)
c.44448A= (p.Leu14816=)
n.783-123T=
c.48468A= (p.Leu16156=)
c.22362A= (p.Leu7454=)
c.22221A= (p.Leu7407=)
c.48264A= (p.Leu16088=)
c.43662A= (p.Leu14554=)
c.43659A= (p.Leu14553=)
c.40701A= (p.Leu13567=)
c.22317A= (p.Leu7439=)
c.43812A= (p.Leu14604=)
c.43809A= (p.Leu14603=)
c.43242A= (p.Leu14414=)
c.40584A= (p.Leu13528=)
c.40503A= (p.Leu13501=)
c.22266A= (p.Leu7422=)
c.12120A= (p.Leu4040=)
2g.178613913A>CCA349604917TTN,TTN-AS1c.41666T>G (p.Leu13889Arg)
c.22751T>G (p.Leu7584Arg)
c.22550T>G (p.Leu7517Arg)
c.22175T>G (p.Leu7392Arg)
c.49370T>G (p.Leu16457Arg)
c.44447T>G (p.Leu14816Arg)
n.783-122A>C
c.48467T>G (p.Leu16156Arg)
c.22361T>G (p.Leu7454Arg)
c.22220T>G (p.Leu7407Arg)
c.48263T>G (p.Leu16088Arg)
c.43661T>G (p.Leu14554Arg)
c.43658T>G (p.Leu14553Arg)
c.40700T>G (p.Leu13567Arg)
c.22316T>G (p.Leu7439Arg)
c.43811T>G (p.Leu14604Arg)
c.43808T>G (p.Leu14603Arg)
c.43241T>G (p.Leu14414Arg)
c.40583T>G (p.Leu13528Arg)
c.40502T>G (p.Leu13501Arg)
c.22265T>G (p.Leu7422Arg)
c.12119T>G (p.Leu4040Arg)
2g.178613913A>GCA349604922TTN,TTN-AS1c.41666T>C (p.Leu13889Pro)
c.22751T>C (p.Leu7584Pro)
c.22550T>C (p.Leu7517Pro)
c.22175T>C (p.Leu7392Pro)
c.49370T>C (p.Leu16457Pro)
c.44447T>C (p.Leu14816Pro)
n.783-122A>G
c.48467T>C (p.Leu16156Pro)
c.22361T>C (p.Leu7454Pro)
c.22220T>C (p.Leu7407Pro)
c.48263T>C (p.Leu16088Pro)
c.43661T>C (p.Leu14554Pro)
c.43658T>C (p.Leu14553Pro)
c.40700T>C (p.Leu13567Pro)
c.22316T>C (p.Leu7439Pro)
c.43811T>C (p.Leu14604Pro)
c.43808T>C (p.Leu14603Pro)
c.43241T>C (p.Leu14414Pro)
c.40583T>C (p.Leu13528Pro)
c.40502T>C (p.Leu13501Pro)
c.22265T>C (p.Leu7422Pro)
c.12119T>C (p.Leu4040Pro)
 gnomAD v4
2g.178613913A>TCA349604919TTN,TTN-AS1c.41666T>A (p.Leu13889Gln)
c.22751T>A (p.Leu7584Gln)
c.22550T>A (p.Leu7517Gln)
c.22175T>A (p.Leu7392Gln)
c.49370T>A (p.Leu16457Gln)
c.44447T>A (p.Leu14816Gln)
n.783-122A>T
c.48467T>A (p.Leu16156Gln)
c.22361T>A (p.Leu7454Gln)
c.22220T>A (p.Leu7407Gln)
c.48263T>A (p.Leu16088Gln)
c.43661T>A (p.Leu14554Gln)
c.43658T>A (p.Leu14553Gln)
c.40700T>A (p.Leu13567Gln)
c.22316T>A (p.Leu7439Gln)
c.43811T>A (p.Leu14604Gln)
c.43808T>A (p.Leu14603Gln)
c.43241T>A (p.Leu14414Gln)
c.40583T>A (p.Leu13528Gln)
c.40502T>A (p.Leu13501Gln)
c.22265T>A (p.Leu7422Gln)
c.12119T>A (p.Leu4040Gln)
2g.178613914G>ACA430272914TTN,TTN-AS1c.41665C>T (p.Leu13889=)
c.22750C>T (p.Leu7584=)
c.22549C>T (p.Leu7517=)
c.22174C>T (p.Leu7392=)
c.49369C>T (p.Leu16457=)
c.44446C>T (p.Leu14816=)
n.783-121G>A
c.48466C>T (p.Leu16156=)
c.22360C>T (p.Leu7454=)
c.22219C>T (p.Leu7407=)
c.48262C>T (p.Leu16088=)
c.43660C>T (p.Leu14554=)
c.43657C>T (p.Leu14553=)
c.40699C>T (p.Leu13567=)
c.22315C>T (p.Leu7439=)
c.43810C>T (p.Leu14604=)
c.43807C>T (p.Leu14603=)
c.43240C>T (p.Leu14414=)
c.40582C>T (p.Leu13528=)
c.40501C>T (p.Leu13501=)
c.22264C>T (p.Leu7422=)
c.12118C>T (p.Leu4040=)
2g.178613914G>CCA349604925TTN,TTN-AS1c.41665C>G (p.Leu13889Val)
c.22750C>G (p.Leu7584Val)
c.22549C>G (p.Leu7517Val)
c.22174C>G (p.Leu7392Val)
c.49369C>G (p.Leu16457Val)
c.44446C>G (p.Leu14816Val)
n.783-121G>C
c.48466C>G (p.Leu16156Val)
c.22360C>G (p.Leu7454Val)
c.22219C>G (p.Leu7407Val)
c.48262C>G (p.Leu16088Val)
c.43660C>G (p.Leu14554Val)
c.43657C>G (p.Leu14553Val)
c.40699C>G (p.Leu13567Val)
c.22315C>G (p.Leu7439Val)
c.43810C>G (p.Leu14604Val)
c.43807C>G (p.Leu14603Val)
c.43240C>G (p.Leu14414Val)
c.40582C>G (p.Leu13528Val)
c.40501C>G (p.Leu13501Val)
c.22264C>G (p.Leu7422Val)
c.12118C>G (p.Leu4040Val)
2g.178613914G=CA1310549126TTN,TTN-AS1c.41665C= (p.Leu13889=)
c.22750C= (p.Leu7584=)
c.22549C= (p.Leu7517=)
c.22174C= (p.Leu7392=)
c.49369C= (p.Leu16457=)
c.44446C= (p.Leu14816=)
n.783-121G=
c.48466C= (p.Leu16156=)
c.22360C= (p.Leu7454=)
c.22219C= (p.Leu7407=)
c.48262C= (p.Leu16088=)
c.43660C= (p.Leu14554=)
c.43657C= (p.Leu14553=)
c.40699C= (p.Leu13567=)
c.22315C= (p.Leu7439=)
c.43810C= (p.Leu14604=)
c.43807C= (p.Leu14603=)
c.43240C= (p.Leu14414=)
c.40582C= (p.Leu13528=)
c.40501C= (p.Leu13501=)
c.22264C= (p.Leu7422=)
c.12118C= (p.Leu4040=)
2g.178613914G>TCA349604927TTN,TTN-AS1c.41665C>A (p.Leu13889Ile)
c.22750C>A (p.Leu7584Ile)
c.22549C>A (p.Leu7517Ile)
c.22174C>A (p.Leu7392Ile)
c.49369C>A (p.Leu16457Ile)
c.44446C>A (p.Leu14816Ile)
n.783-121G>T
c.48466C>A (p.Leu16156Ile)
c.22360C>A (p.Leu7454Ile)
c.22219C>A (p.Leu7407Ile)
c.48262C>A (p.Leu16088Ile)
c.43660C>A (p.Leu14554Ile)
c.43657C>A (p.Leu14553Ile)
c.40699C>A (p.Leu13567Ile)
c.22315C>A (p.Leu7439Ile)
c.43810C>A (p.Leu14604Ile)
c.43807C>A (p.Leu14603Ile)
c.43240C>A (p.Leu14414Ile)
c.40582C>A (p.Leu13528Ile)
c.40501C>A (p.Leu13501Ile)
c.22264C>A (p.Leu7422Ile)
c.12118C>A (p.Leu4040Ile)
 dbSNP
2g.178613915G>ACA430272915TTN,TTN-AS1c.41664C>T (p.Arg13888=)
c.22749C>T (p.Arg7583=)
c.22548C>T (p.Arg7516=)
c.22173C>T (p.Arg7391=)
c.49368C>T (p.Arg16456=)
c.44445C>T (p.Arg14815=)
n.783-120G>A
c.48465C>T (p.Arg16155=)
c.22359C>T (p.Arg7453=)
c.22218C>T (p.Arg7406=)
c.48261C>T (p.Arg16087=)
c.43659C>T (p.Arg14553=)
c.43656C>T (p.Arg14552=)
c.40698C>T (p.Arg13566=)
c.22314C>T (p.Arg7438=)
c.43809C>T (p.Arg14603=)
c.43806C>T (p.Arg14602=)
c.43239C>T (p.Arg14413=)
c.40581C>T (p.Arg13527=)
c.40500C>T (p.Arg13500=)
c.22263C>T (p.Arg7421=)
c.12117C>T (p.Arg4039=)
 gnomAD v4
2g.178613915G>CCA430272916TTN,TTN-AS1c.41664C>G (p.Arg13888=)
c.22749C>G (p.Arg7583=)
c.22548C>G (p.Arg7516=)
c.22173C>G (p.Arg7391=)
c.49368C>G (p.Arg16456=)
c.44445C>G (p.Arg14815=)
n.783-120G>C
c.48465C>G (p.Arg16155=)
c.22359C>G (p.Arg7453=)
c.22218C>G (p.Arg7406=)
c.48261C>G (p.Arg16087=)
c.43659C>G (p.Arg14553=)
c.43656C>G (p.Arg14552=)
c.40698C>G (p.Arg13566=)
c.22314C>G (p.Arg7438=)
c.43809C>G (p.Arg14603=)
c.43806C>G (p.Arg14602=)
c.43239C>G (p.Arg14413=)
c.40581C>G (p.Arg13527=)
c.40500C>G (p.Arg13500=)
c.22263C>G (p.Arg7421=)
c.12117C>G (p.Arg4039=)
2g.178613915G>TCA430272917TTN,TTN-AS1c.41664C>A (p.Arg13888=)
c.22749C>A (p.Arg7583=)
c.22548C>A (p.Arg7516=)
c.22173C>A (p.Arg7391=)
c.49368C>A (p.Arg16456=)
c.44445C>A (p.Arg14815=)
n.783-120G>T
c.48465C>A (p.Arg16155=)
c.22359C>A (p.Arg7453=)
c.22218C>A (p.Arg7406=)
c.48261C>A (p.Arg16087=)
c.43659C>A (p.Arg14553=)
c.43656C>A (p.Arg14552=)
c.40698C>A (p.Arg13566=)
c.22314C>A (p.Arg7438=)
c.43809C>A (p.Arg14603=)
c.43806C>A (p.Arg14602=)
c.43239C>A (p.Arg14413=)
c.40581C>A (p.Arg13527=)
c.40500C>A (p.Arg13500=)
c.22263C>A (p.Arg7421=)
c.12117C>A (p.Arg4039=)
2g.178613916C>ACA1994610TTN,TTN-AS1c.41663G>T (p.Arg13888Leu)
c.22748G>T (p.Arg7583Leu)
c.22547G>T (p.Arg7516Leu)
c.22172G>T (p.Arg7391Leu)
c.49367G>T (p.Arg16456Leu)
c.44444G>T (p.Arg14815Leu)
n.783-119C>A
c.48464G>T (p.Arg16155Leu)
c.22358G>T (p.Arg7453Leu)
c.22217G>T (p.Arg7406Leu)
c.48260G>T (p.Arg16087Leu)
c.43658G>T (p.Arg14553Leu)
c.43655G>T (p.Arg14552Leu)
c.40697G>T (p.Arg13566Leu)
c.22313G>T (p.Arg7438Leu)
c.43808G>T (p.Arg14603Leu)
c.43805G>T (p.Arg14602Leu)
c.43238G>T (p.Arg14413Leu)
c.40580G>T (p.Arg13527Leu)
c.40499G>T (p.Arg13500Leu)
c.22262G>T (p.Arg7421Leu)
c.12116G>T (p.Arg4039Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178613916C=CA1310549127TTN,TTN-AS1c.41663G= (p.Arg13888=)
c.22748G= (p.Arg7583=)
c.22547G= (p.Arg7516=)
c.22172G= (p.Arg7391=)
c.49367G= (p.Arg16456=)
c.44444G= (p.Arg14815=)
n.783-119C=
c.48464G= (p.Arg16155=)
c.22358G= (p.Arg7453=)
c.22217G= (p.Arg7406=)
c.48260G= (p.Arg16087=)
c.43658G= (p.Arg14553=)
c.43655G= (p.Arg14552=)
c.40697G= (p.Arg13566=)
c.22313G= (p.Arg7438=)
c.43808G= (p.Arg14603=)
c.43805G= (p.Arg14602=)
c.43238G= (p.Arg14413=)
c.40580G= (p.Arg13527=)
c.40499G= (p.Arg13500=)
c.22262G= (p.Arg7421=)
c.12116G= (p.Arg4039=)
2g.178613916C>GCA349604937TTN,TTN-AS1c.41663G>C (p.Arg13888Pro)
c.22748G>C (p.Arg7583Pro)
c.22547G>C (p.Arg7516Pro)
c.22172G>C (p.Arg7391Pro)
c.49367G>C (p.Arg16456Pro)
c.44444G>C (p.Arg14815Pro)
n.783-119C>G
c.48464G>C (p.Arg16155Pro)
c.22358G>C (p.Arg7453Pro)
c.22217G>C (p.Arg7406Pro)
c.48260G>C (p.Arg16087Pro)
c.43658G>C (p.Arg14553Pro)
c.43655G>C (p.Arg14552Pro)
c.40697G>C (p.Arg13566Pro)
c.22313G>C (p.Arg7438Pro)
c.43808G>C (p.Arg14603Pro)
c.43805G>C (p.Arg14602Pro)
c.43238G>C (p.Arg14413Pro)
c.40580G>C (p.Arg13527Pro)
c.40499G>C (p.Arg13500Pro)
c.22262G>C (p.Arg7421Pro)
c.12116G>C (p.Arg4039Pro)
2g.178613916C>TCA237945TTN,TTN-AS1c.41663G>A (p.Arg13888His)
c.22748G>A (p.Arg7583His)
c.22547G>A (p.Arg7516His)
c.22172G>A (p.Arg7391His)
c.49367G>A (p.Arg16456His)
c.44444G>A (p.Arg14815His)
n.783-119C>T
c.48464G>A (p.Arg16155His)
c.22358G>A (p.Arg7453His)
c.22217G>A (p.Arg7406His)
c.48260G>A (p.Arg16087His)
c.43658G>A (p.Arg14553His)
c.43655G>A (p.Arg14552His)
c.40697G>A (p.Arg13566His)
c.22313G>A (p.Arg7438His)
c.43808G>A (p.Arg14603His)
c.43805G>A (p.Arg14602His)
c.43238G>A (p.Arg14413His)
c.40580G>A (p.Arg13527His)
c.40499G>A (p.Arg13500His)
c.22262G>A (p.Arg7421His)
c.12116G>A (p.Arg4039His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178613917G>ACA184773TTN,TTN-AS1c.41662C>T (p.Arg13888Cys)
c.22747C>T (p.Arg7583Cys)
c.22546C>T (p.Arg7516Cys)
c.22171C>T (p.Arg7391Cys)
c.49366C>T (p.Arg16456Cys)
c.44443C>T (p.Arg14815Cys)
n.783-118G>A
c.48463C>T (p.Arg16155Cys)
c.22357C>T (p.Arg7453Cys)
c.22216C>T (p.Arg7406Cys)
c.48259C>T (p.Arg16087Cys)
c.43657C>T (p.Arg14553Cys)
c.43654C>T (p.Arg14552Cys)
c.40696C>T (p.Arg13566Cys)
c.22312C>T (p.Arg7438Cys)
c.43807C>T (p.Arg14603Cys)
c.43804C>T (p.Arg14602Cys)
c.43237C>T (p.Arg14413Cys)
c.40579C>T (p.Arg13527Cys)
c.40498C>T (p.Arg13500Cys)
c.22261C>T (p.Arg7421Cys)
c.12115C>T (p.Arg4039Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178613917G>CCA349604941TTN,TTN-AS1c.41662C>G (p.Arg13888Gly)
c.22747C>G (p.Arg7583Gly)
c.22546C>G (p.Arg7516Gly)
c.22171C>G (p.Arg7391Gly)
c.49366C>G (p.Arg16456Gly)
c.44443C>G (p.Arg14815Gly)
n.783-118G>C
c.48463C>G (p.Arg16155Gly)
c.22357C>G (p.Arg7453Gly)
c.22216C>G (p.Arg7406Gly)
c.48259C>G (p.Arg16087Gly)
c.43657C>G (p.Arg14553Gly)
c.43654C>G (p.Arg14552Gly)
c.40696C>G (p.Arg13566Gly)
c.22312C>G (p.Arg7438Gly)
c.43807C>G (p.Arg14603Gly)
c.43804C>G (p.Arg14602Gly)
c.43237C>G (p.Arg14413Gly)
c.40579C>G (p.Arg13527Gly)
c.40498C>G (p.Arg13500Gly)
c.22261C>G (p.Arg7421Gly)
c.12115C>G (p.Arg4039Gly)
2g.178613917G=CA1310549128TTN,TTN-AS1c.41662C= (p.Arg13888=)
c.22747C= (p.Arg7583=)
c.22546C= (p.Arg7516=)
c.22171C= (p.Arg7391=)
c.49366C= (p.Arg16456=)
c.44443C= (p.Arg14815=)
n.783-118G=
c.48463C= (p.Arg16155=)
c.22357C= (p.Arg7453=)
c.22216C= (p.Arg7406=)
c.48259C= (p.Arg16087=)
c.43657C= (p.Arg14553=)
c.43654C= (p.Arg14552=)
c.40696C= (p.Arg13566=)
c.22312C= (p.Arg7438=)
c.43807C= (p.Arg14603=)
c.43804C= (p.Arg14602=)
c.43237C= (p.Arg14413=)
c.40579C= (p.Arg13527=)
c.40498C= (p.Arg13500=)
c.22261C= (p.Arg7421=)
c.12115C= (p.Arg4039=)
2g.178613917G>TCA349604943TTN,TTN-AS1c.41662C>A (p.Arg13888Ser)
c.22747C>A (p.Arg7583Ser)
c.22546C>A (p.Arg7516Ser)
c.22171C>A (p.Arg7391Ser)
c.49366C>A (p.Arg16456Ser)
c.44443C>A (p.Arg14815Ser)
n.783-118G>T
c.48463C>A (p.Arg16155Ser)
c.22357C>A (p.Arg7453Ser)
c.22216C>A (p.Arg7406Ser)
c.48259C>A (p.Arg16087Ser)
c.43657C>A (p.Arg14553Ser)
c.43654C>A (p.Arg14552Ser)
c.40696C>A (p.Arg13566Ser)
c.22312C>A (p.Arg7438Ser)
c.43807C>A (p.Arg14603Ser)
c.43804C>A (p.Arg14602Ser)
c.43237C>A (p.Arg14413Ser)
c.40579C>A (p.Arg13527Ser)
c.40498C>A (p.Arg13500Ser)
c.22261C>A (p.Arg7421Ser)
c.12115C>A (p.Arg4039Ser)
2g.178613918A=CA1310549129TTN,TTN-AS1c.41661T= (p.Thr13887=)
c.22746T= (p.Thr7582=)
c.22545T= (p.Thr7515=)
c.22170T= (p.Thr7390=)
c.49365T= (p.Thr16455=)
c.44442T= (p.Thr14814=)
n.783-117A=
c.48462T= (p.Thr16154=)
c.22356T= (p.Thr7452=)
c.22215T= (p.Thr7405=)
c.48258T= (p.Thr16086=)
c.43656T= (p.Thr14552=)
c.43653T= (p.Thr14551=)
c.40695T= (p.Thr13565=)
c.22311T= (p.Thr7437=)
c.43806T= (p.Thr14602=)
c.43803T= (p.Thr14601=)
c.43236T= (p.Thr14412=)
c.40578T= (p.Thr13526=)
c.40497T= (p.Thr13499=)
c.22260T= (p.Thr7420=)
c.12114T= (p.Thr4038=)
2g.178613918A>CCA430272920TTN,TTN-AS1c.41661T>G (p.Thr13887=)
c.22746T>G (p.Thr7582=)
c.22545T>G (p.Thr7515=)
c.22170T>G (p.Thr7390=)
c.49365T>G (p.Thr16455=)
c.44442T>G (p.Thr14814=)
n.783-117A>C
c.48462T>G (p.Thr16154=)
c.22356T>G (p.Thr7452=)
c.22215T>G (p.Thr7405=)
c.48258T>G (p.Thr16086=)
c.43656T>G (p.Thr14552=)
c.43653T>G (p.Thr14551=)
c.40695T>G (p.Thr13565=)
c.22311T>G (p.Thr7437=)
c.43806T>G (p.Thr14602=)
c.43803T>G (p.Thr14601=)
c.43236T>G (p.Thr14412=)
c.40578T>G (p.Thr13526=)
c.40497T>G (p.Thr13499=)
c.22260T>G (p.Thr7420=)
c.12114T>G (p.Thr4038=)
2g.178613918A>GCA1994611TTN,TTN-AS1c.41661T>C (p.Thr13887=)
c.22746T>C (p.Thr7582=)
c.22545T>C (p.Thr7515=)
c.22170T>C (p.Thr7390=)
c.49365T>C (p.Thr16455=)
c.44442T>C (p.Thr14814=)
n.783-117A>G
c.48462T>C (p.Thr16154=)
c.22356T>C (p.Thr7452=)
c.22215T>C (p.Thr7405=)
c.48258T>C (p.Thr16086=)
c.43656T>C (p.Thr14552=)
c.43653T>C (p.Thr14551=)
c.40695T>C (p.Thr13565=)
c.22311T>C (p.Thr7437=)
c.43806T>C (p.Thr14602=)
c.43803T>C (p.Thr14601=)
c.43236T>C (p.Thr14412=)
c.40578T>C (p.Thr13526=)
c.40497T>C (p.Thr13499=)
c.22260T>C (p.Thr7420=)
c.12114T>C (p.Thr4038=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178613918A>TCA430272921TTN,TTN-AS1c.41661T>A (p.Thr13887=)
c.22746T>A (p.Thr7582=)
c.22545T>A (p.Thr7515=)
c.22170T>A (p.Thr7390=)
c.49365T>A (p.Thr16455=)
c.44442T>A (p.Thr14814=)
n.783-117A>T
c.48462T>A (p.Thr16154=)
c.22356T>A (p.Thr7452=)
c.22215T>A (p.Thr7405=)
c.48258T>A (p.Thr16086=)
c.43656T>A (p.Thr14552=)
c.43653T>A (p.Thr14551=)
c.40695T>A (p.Thr13565=)
c.22311T>A (p.Thr7437=)
c.43806T>A (p.Thr14602=)
c.43803T>A (p.Thr14601=)
c.43236T>A (p.Thr14412=)
c.40578T>A (p.Thr13526=)
c.40497T>A (p.Thr13499=)
c.22260T>A (p.Thr7420=)
c.12114T>A (p.Thr4038=)
2g.178613919G>ACA349604946TTN,TTN-AS1c.41660C>T (p.Thr13887Ile)
c.22745C>T (p.Thr7582Ile)
c.22544C>T (p.Thr7515Ile)
c.22169C>T (p.Thr7390Ile)
c.49364C>T (p.Thr16455Ile)
c.44441C>T (p.Thr14814Ile)
n.783-116G>A
c.48461C>T (p.Thr16154Ile)
c.22355C>T (p.Thr7452Ile)
c.22214C>T (p.Thr7405Ile)
c.48257C>T (p.Thr16086Ile)
c.43655C>T (p.Thr14552Ile)
c.43652C>T (p.Thr14551Ile)
c.40694C>T (p.Thr13565Ile)
c.22310C>T (p.Thr7437Ile)
c.43805C>T (p.Thr14602Ile)
c.43802C>T (p.Thr14601Ile)
c.43235C>T (p.Thr14412Ile)
c.40577C>T (p.Thr13526Ile)
c.40496C>T (p.Thr13499Ile)
c.22259C>T (p.Thr7420Ile)
c.12113C>T (p.Thr4038Ile)
2g.178613919G>CCA349604947TTN,TTN-AS1c.41660C>G (p.Thr13887Ser)
c.22745C>G (p.Thr7582Ser)
c.22544C>G (p.Thr7515Ser)
c.22169C>G (p.Thr7390Ser)
c.49364C>G (p.Thr16455Ser)
c.44441C>G (p.Thr14814Ser)
n.783-116G>C
c.48461C>G (p.Thr16154Ser)
c.22355C>G (p.Thr7452Ser)
c.22214C>G (p.Thr7405Ser)
c.48257C>G (p.Thr16086Ser)
c.43655C>G (p.Thr14552Ser)
c.43652C>G (p.Thr14551Ser)
c.40694C>G (p.Thr13565Ser)
c.22310C>G (p.Thr7437Ser)
c.43805C>G (p.Thr14602Ser)
c.43802C>G (p.Thr14601Ser)
c.43235C>G (p.Thr14412Ser)
c.40577C>G (p.Thr13526Ser)
c.40496C>G (p.Thr13499Ser)
c.22259C>G (p.Thr7420Ser)
c.12113C>G (p.Thr4038Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.178613919G=CA1310549130TTN,TTN-AS1c.41660C= (p.Thr13887=)
c.22745C= (p.Thr7582=)
c.22544C= (p.Thr7515=)
c.22169C= (p.Thr7390=)
c.49364C= (p.Thr16455=)
c.44441C= (p.Thr14814=)
n.783-116G=
c.48461C= (p.Thr16154=)
c.22355C= (p.Thr7452=)
c.22214C= (p.Thr7405=)
c.48257C= (p.Thr16086=)
c.43655C= (p.Thr14552=)
c.43652C= (p.Thr14551=)
c.40694C= (p.Thr13565=)
c.22310C= (p.Thr7437=)
c.43805C= (p.Thr14602=)
c.43802C= (p.Thr14601=)
c.43235C= (p.Thr14412=)
c.40577C= (p.Thr13526=)
c.40496C= (p.Thr13499=)
c.22259C= (p.Thr7420=)
c.12113C= (p.Thr4038=)
2g.178613919G>TCA349604948TTN,TTN-AS1c.41660C>A (p.Thr13887Asn)
c.22745C>A (p.Thr7582Asn)
c.22544C>A (p.Thr7515Asn)
c.22169C>A (p.Thr7390Asn)
c.49364C>A (p.Thr16455Asn)
c.44441C>A (p.Thr14814Asn)
n.783-116G>T
c.48461C>A (p.Thr16154Asn)
c.22355C>A (p.Thr7452Asn)
c.22214C>A (p.Thr7405Asn)
c.48257C>A (p.Thr16086Asn)
c.43655C>A (p.Thr14552Asn)
c.43652C>A (p.Thr14551Asn)
c.40694C>A (p.Thr13565Asn)
c.22310C>A (p.Thr7437Asn)
c.43805C>A (p.Thr14602Asn)
c.43802C>A (p.Thr14601Asn)
c.43235C>A (p.Thr14412Asn)
c.40577C>A (p.Thr13526Asn)
c.40496C>A (p.Thr13499Asn)
c.22259C>A (p.Thr7420Asn)
c.12113C>A (p.Thr4038Asn)
2g.178613920T>ACA349604950TTN,TTN-AS1c.41659A>T (p.Thr13887Ser)
c.22744A>T (p.Thr7582Ser)
c.22543A>T (p.Thr7515Ser)
c.22168A>T (p.Thr7390Ser)
c.49363A>T (p.Thr16455Ser)
c.44440A>T (p.Thr14814Ser)
n.783-115T>A
c.48460A>T (p.Thr16154Ser)
c.22354A>T (p.Thr7452Ser)
c.22213A>T (p.Thr7405Ser)
c.48256A>T (p.Thr16086Ser)
c.43654A>T (p.Thr14552Ser)
c.43651A>T (p.Thr14551Ser)
c.40693A>T (p.Thr13565Ser)
c.22309A>T (p.Thr7437Ser)
c.43804A>T (p.Thr14602Ser)
c.43801A>T (p.Thr14601Ser)
c.43234A>T (p.Thr14412Ser)
c.40576A>T (p.Thr13526Ser)
c.40495A>T (p.Thr13499Ser)
c.22258A>T (p.Thr7420Ser)
c.12112A>T (p.Thr4038Ser)
2g.178613920T>CCA309950TTN,TTN-AS1c.41659A>G (p.Thr13887Ala)
c.22744A>G (p.Thr7582Ala)
c.22543A>G (p.Thr7515Ala)
c.22168A>G (p.Thr7390Ala)
c.49363A>G (p.Thr16455Ala)
c.44440A>G (p.Thr14814Ala)
n.783-115T>C
c.48460A>G (p.Thr16154Ala)
c.22354A>G (p.Thr7452Ala)
c.22213A>G (p.Thr7405Ala)
c.48256A>G (p.Thr16086Ala)
c.43654A>G (p.Thr14552Ala)
c.43651A>G (p.Thr14551Ala)
c.40693A>G (p.Thr13565Ala)
c.22309A>G (p.Thr7437Ala)
c.43804A>G (p.Thr14602Ala)
c.43801A>G (p.Thr14601Ala)
c.43234A>G (p.Thr14412Ala)
c.40576A>G (p.Thr13526Ala)
c.40495A>G (p.Thr13499Ala)
c.22258A>G (p.Thr7420Ala)
c.12112A>G (p.Thr4038Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178613920T>GCA349604951TTN,TTN-AS1c.41659A>C (p.Thr13887Pro)
c.22744A>C (p.Thr7582Pro)
c.22543A>C (p.Thr7515Pro)
c.22168A>C (p.Thr7390Pro)
c.49363A>C (p.Thr16455Pro)
c.44440A>C (p.Thr14814Pro)
n.783-115T>G
c.48460A>C (p.Thr16154Pro)
c.22354A>C (p.Thr7452Pro)
c.22213A>C (p.Thr7405Pro)
c.48256A>C (p.Thr16086Pro)
c.43654A>C (p.Thr14552Pro)
c.43651A>C (p.Thr14551Pro)
c.40693A>C (p.Thr13565Pro)
c.22309A>C (p.Thr7437Pro)
c.43804A>C (p.Thr14602Pro)
c.43801A>C (p.Thr14601Pro)
c.43234A>C (p.Thr14412Pro)
c.40576A>C (p.Thr13526Pro)
c.40495A>C (p.Thr13499Pro)
c.22258A>C (p.Thr7420Pro)
c.12112A>C (p.Thr4038Pro)
2g.178613920T=CA1310549131TTN,TTN-AS1c.41659A= (p.Thr13887=)
c.22744A= (p.Thr7582=)
c.22543A= (p.Thr7515=)
c.22168A= (p.Thr7390=)
c.49363A= (p.Thr16455=)
c.44440A= (p.Thr14814=)
n.783-115T=
c.48460A= (p.Thr16154=)
c.22354A= (p.Thr7452=)
c.22213A= (p.Thr7405=)
c.48256A= (p.Thr16086=)
c.43654A= (p.Thr14552=)
c.43651A= (p.Thr14551=)
c.40693A= (p.Thr13565=)
c.22309A= (p.Thr7437=)
c.43804A= (p.Thr14602=)
c.43801A= (p.Thr14601=)
c.43234A= (p.Thr14412=)
c.40576A= (p.Thr13526=)
c.40495A= (p.Thr13499=)
c.22258A= (p.Thr7420=)
c.12112A= (p.Thr4038=)
2g.178613921dupCA2586970837TTN,TTN-AS1c.41659dup (p.Thr13887AsnfsTer7)
c.22744dup (p.Thr7582AsnfsTer7)
c.22543dup (p.Thr7515AsnfsTer7)
c.22168dup (p.Thr7390AsnfsTer7)
c.49363dup (p.Thr16455AsnfsTer7)
c.44440dup (p.Thr14814AsnfsTer7)
n.783-114dup
c.48460dup (p.Thr16154AsnfsTer7)
c.22354dup (p.Thr7452AsnfsTer7)
c.22213dup (p.Thr7405AsnfsTer7)
c.48256dup (p.Thr16086AsnfsTer7)
c.43654dup (p.Thr14552AsnfsTer7)
c.43651dup (p.Thr14551AsnfsTer7)
c.40693dup (p.Thr13565AsnfsTer7)
c.22309dup (p.Thr7437AsnfsTer7)
c.43804dup (p.Thr14602AsnfsTer7)
c.43801dup (p.Thr14601AsnfsTer7)
c.43234dup (p.Thr14412AsnfsTer7)
c.40576dup (p.Thr13526AsnfsTer7)
c.40495dup (p.Thr13499AsnfsTer7)
c.22258dup (p.Thr7420AsnfsTer7)
c.12112dup (p.Thr4038AsnfsTer7)
2g.178613921T>ACA430272922TTN,TTN-AS1c.41658A>T (p.Pro13886=)
c.22743A>T (p.Pro7581=)
c.22542A>T (p.Pro7514=)
c.22167A>T (p.Pro7389=)
c.49362A>T (p.Pro16454=)
c.44439A>T (p.Pro14813=)
n.783-114T>A
c.48459A>T (p.Pro16153=)
c.22353A>T (p.Pro7451=)
c.22212A>T (p.Pro7404=)
c.48255A>T (p.Pro16085=)
c.43653A>T (p.Pro14551=)
c.43650A>T (p.Pro14550=)
c.40692A>T (p.Pro13564=)
c.22308A>T (p.Pro7436=)
c.43803A>T (p.Pro14601=)
c.43800A>T (p.Pro14600=)
c.43233A>T (p.Pro14411=)
c.40575A>T (p.Pro13525=)
c.40494A>T (p.Pro13498=)
c.22257A>T (p.Pro7419=)
c.12111A>T (p.Pro4037=)
2g.178613921T>CCA430272923TTN,TTN-AS1c.41658A>G (p.Pro13886=)
c.22743A>G (p.Pro7581=)
c.22542A>G (p.Pro7514=)
c.22167A>G (p.Pro7389=)
c.49362A>G (p.Pro16454=)
c.44439A>G (p.Pro14813=)
n.783-114T>C
c.48459A>G (p.Pro16153=)
c.22353A>G (p.Pro7451=)
c.22212A>G (p.Pro7404=)
c.48255A>G (p.Pro16085=)
c.43653A>G (p.Pro14551=)
c.43650A>G (p.Pro14550=)
c.40692A>G (p.Pro13564=)
c.22308A>G (p.Pro7436=)
c.43803A>G (p.Pro14601=)
c.43800A>G (p.Pro14600=)
c.43233A>G (p.Pro14411=)
c.40575A>G (p.Pro13525=)
c.40494A>G (p.Pro13498=)
c.22257A>G (p.Pro7419=)
c.12111A>G (p.Pro4037=)
2g.178613921T>GCA430272925TTN,TTN-AS1c.41658A>C (p.Pro13886=)
c.22743A>C (p.Pro7581=)
c.22542A>C (p.Pro7514=)
c.22167A>C (p.Pro7389=)
c.49362A>C (p.Pro16454=)
c.44439A>C (p.Pro14813=)
n.783-114T>G
c.48459A>C (p.Pro16153=)
c.22353A>C (p.Pro7451=)
c.22212A>C (p.Pro7404=)
c.48255A>C (p.Pro16085=)
c.43653A>C (p.Pro14551=)
c.43650A>C (p.Pro14550=)
c.40692A>C (p.Pro13564=)
c.22308A>C (p.Pro7436=)
c.43803A>C (p.Pro14601=)
c.43800A>C (p.Pro14600=)
c.43233A>C (p.Pro14411=)
c.40575A>C (p.Pro13525=)
c.40494A>C (p.Pro13498=)
c.22257A>C (p.Pro7419=)
c.12111A>C (p.Pro4037=)
2g.178613922G>ACA349604959TTN,TTN-AS1c.41657C>T (p.Pro13886Leu)
c.22742C>T (p.Pro7581Leu)
c.22541C>T (p.Pro7514Leu)
c.22166C>T (p.Pro7389Leu)
c.49361C>T (p.Pro16454Leu)
c.44438C>T (p.Pro14813Leu)
n.783-113G>A
c.48458C>T (p.Pro16153Leu)
c.22352C>T (p.Pro7451Leu)
c.22211C>T (p.Pro7404Leu)
c.48254C>T (p.Pro16085Leu)
c.43652C>T (p.Pro14551Leu)
c.43649C>T (p.Pro14550Leu)
c.40691C>T (p.Pro13564Leu)
c.22307C>T (p.Pro7436Leu)
c.43802C>T (p.Pro14601Leu)
c.43799C>T (p.Pro14600Leu)
c.43232C>T (p.Pro14411Leu)
c.40574C>T (p.Pro13525Leu)
c.40493C>T (p.Pro13498Leu)
c.22256C>T (p.Pro7419Leu)
c.12110C>T (p.Pro4037Leu)
2g.178613922G>CCA349604957TTN,TTN-AS1c.41657C>G (p.Pro13886Arg)
c.22742C>G (p.Pro7581Arg)
c.22541C>G (p.Pro7514Arg)
c.22166C>G (p.Pro7389Arg)
c.49361C>G (p.Pro16454Arg)
c.44438C>G (p.Pro14813Arg)
n.783-113G>C
c.48458C>G (p.Pro16153Arg)
c.22352C>G (p.Pro7451Arg)
c.22211C>G (p.Pro7404Arg)
c.48254C>G (p.Pro16085Arg)
c.43652C>G (p.Pro14551Arg)
c.43649C>G (p.Pro14550Arg)
c.40691C>G (p.Pro13564Arg)
c.22307C>G (p.Pro7436Arg)
c.43802C>G (p.Pro14601Arg)
c.43799C>G (p.Pro14600Arg)
c.43232C>G (p.Pro14411Arg)
c.40574C>G (p.Pro13525Arg)
c.40493C>G (p.Pro13498Arg)
c.22256C>G (p.Pro7419Arg)
c.12110C>G (p.Pro4037Arg)
2g.178613922G>TCA349604955TTN,TTN-AS1c.41657C>A (p.Pro13886Gln)
c.22742C>A (p.Pro7581Gln)
c.22541C>A (p.Pro7514Gln)
c.22166C>A (p.Pro7389Gln)
c.49361C>A (p.Pro16454Gln)
c.44438C>A (p.Pro14813Gln)
n.783-113G>T
c.48458C>A (p.Pro16153Gln)
c.22352C>A (p.Pro7451Gln)
c.22211C>A (p.Pro7404Gln)
c.48254C>A (p.Pro16085Gln)
c.43652C>A (p.Pro14551Gln)
c.43649C>A (p.Pro14550Gln)
c.40691C>A (p.Pro13564Gln)
c.22307C>A (p.Pro7436Gln)
c.43802C>A (p.Pro14601Gln)
c.43799C>A (p.Pro14600Gln)
c.43232C>A (p.Pro14411Gln)
c.40574C>A (p.Pro13525Gln)
c.40493C>A (p.Pro13498Gln)
c.22256C>A (p.Pro7419Gln)
c.12110C>A (p.Pro4037Gln)
 gnomAD v4
2g.178613923G>ACA349604961TTN,TTN-AS1c.41656C>T (p.Pro13886Ser)
c.22741C>T (p.Pro7581Ser)
c.22540C>T (p.Pro7514Ser)
c.22165C>T (p.Pro7389Ser)
c.49360C>T (p.Pro16454Ser)
c.44437C>T (p.Pro14813Ser)
n.783-112G>A
c.48457C>T (p.Pro16153Ser)
c.22351C>T (p.Pro7451Ser)
c.22210C>T (p.Pro7404Ser)
c.48253C>T (p.Pro16085Ser)
c.43651C>T (p.Pro14551Ser)
c.43648C>T (p.Pro14550Ser)
c.40690C>T (p.Pro13564Ser)
c.22306C>T (p.Pro7436Ser)
c.43801C>T (p.Pro14601Ser)
c.43798C>T (p.Pro14600Ser)
c.43231C>T (p.Pro14411Ser)
c.40573C>T (p.Pro13525Ser)
c.40492C>T (p.Pro13498Ser)
c.22255C>T (p.Pro7419Ser)
c.12109C>T (p.Pro4037Ser)
2g.178613923G>CCA349604962TTN,TTN-AS1c.41656C>G (p.Pro13886Ala)
c.22741C>G (p.Pro7581Ala)
c.22540C>G (p.Pro7514Ala)
c.22165C>G (p.Pro7389Ala)
c.49360C>G (p.Pro16454Ala)
c.44437C>G (p.Pro14813Ala)
n.783-112G>C
c.48457C>G (p.Pro16153Ala)
c.22351C>G (p.Pro7451Ala)
c.22210C>G (p.Pro7404Ala)
c.48253C>G (p.Pro16085Ala)
c.43651C>G (p.Pro14551Ala)
c.43648C>G (p.Pro14550Ala)
c.40690C>G (p.Pro13564Ala)
c.22306C>G (p.Pro7436Ala)
c.43801C>G (p.Pro14601Ala)
c.43798C>G (p.Pro14600Ala)
c.43231C>G (p.Pro14411Ala)
c.40573C>G (p.Pro13525Ala)
c.40492C>G (p.Pro13498Ala)
c.22255C>G (p.Pro7419Ala)
c.12109C>G (p.Pro4037Ala)
2g.178613923G>TCA349604968TTN,TTN-AS1c.41656C>A (p.Pro13886Thr)
c.22741C>A (p.Pro7581Thr)
c.22540C>A (p.Pro7514Thr)
c.22165C>A (p.Pro7389Thr)
c.49360C>A (p.Pro16454Thr)
c.44437C>A (p.Pro14813Thr)
n.783-112G>T
c.48457C>A (p.Pro16153Thr)
c.22351C>A (p.Pro7451Thr)
c.22210C>A (p.Pro7404Thr)
c.48253C>A (p.Pro16085Thr)
c.43651C>A (p.Pro14551Thr)
c.43648C>A (p.Pro14550Thr)
c.40690C>A (p.Pro13564Thr)
c.22306C>A (p.Pro7436Thr)
c.43801C>A (p.Pro14601Thr)
c.43798C>A (p.Pro14600Thr)
c.43231C>A (p.Pro14411Thr)
c.40573C>A (p.Pro13525Thr)
c.40492C>A (p.Pro13498Thr)
c.22255C>A (p.Pro7419Thr)
c.12109C>A (p.Pro4037Thr)
2g.178613924A>CCA430272926TTN,TTN-AS1c.41655T>G (p.Pro13885=)
c.22740T>G (p.Pro7580=)
c.22539T>G (p.Pro7513=)
c.22164T>G (p.Pro7388=)
c.49359T>G (p.Pro16453=)
c.44436T>G (p.Pro14812=)
n.783-111A>C
c.48456T>G (p.Pro16152=)
c.22350T>G (p.Pro7450=)
c.22209T>G (p.Pro7403=)
c.48252T>G (p.Pro16084=)
c.43650T>G (p.Pro14550=)
c.43647T>G (p.Pro14549=)
c.40689T>G (p.Pro13563=)
c.22305T>G (p.Pro7435=)
c.43800T>G (p.Pro14600=)
c.43797T>G (p.Pro14599=)
c.43230T>G (p.Pro14410=)
c.40572T>G (p.Pro13524=)
c.40491T>G (p.Pro13497=)
c.22254T>G (p.Pro7418=)
c.12108T>G (p.Pro4036=)
2g.178613924A>GCA430272927TTN,TTN-AS1c.41655T>C (p.Pro13885=)
c.22740T>C (p.Pro7580=)
c.22539T>C (p.Pro7513=)
c.22164T>C (p.Pro7388=)
c.49359T>C (p.Pro16453=)
c.44436T>C (p.Pro14812=)
n.783-111A>G
c.48456T>C (p.Pro16152=)
c.22350T>C (p.Pro7450=)
c.22209T>C (p.Pro7403=)
c.48252T>C (p.Pro16084=)
c.43650T>C (p.Pro14550=)
c.43647T>C (p.Pro14549=)
c.40689T>C (p.Pro13563=)
c.22305T>C (p.Pro7435=)
c.43800T>C (p.Pro14600=)
c.43797T>C (p.Pro14599=)
c.43230T>C (p.Pro14410=)
c.40572T>C (p.Pro13524=)
c.40491T>C (p.Pro13497=)
c.22254T>C (p.Pro7418=)
c.12108T>C (p.Pro4036=)
2g.178613924A>TCA430272928TTN,TTN-AS1c.41655T>A (p.Pro13885=)
c.22740T>A (p.Pro7580=)
c.22539T>A (p.Pro7513=)
c.22164T>A (p.Pro7388=)
c.49359T>A (p.Pro16453=)
c.44436T>A (p.Pro14812=)
n.783-111A>T
c.48456T>A (p.Pro16152=)
c.22350T>A (p.Pro7450=)
c.22209T>A (p.Pro7403=)
c.48252T>A (p.Pro16084=)
c.43650T>A (p.Pro14550=)
c.43647T>A (p.Pro14549=)
c.40689T>A (p.Pro13563=)
c.22305T>A (p.Pro7435=)
c.43800T>A (p.Pro14600=)
c.43797T>A (p.Pro14599=)
c.43230T>A (p.Pro14410=)
c.40572T>A (p.Pro13524=)
c.40491T>A (p.Pro13497=)
c.22254T>A (p.Pro7418=)
c.12108T>A (p.Pro4036=)
2g.178613925G>ACA1994612TTN,TTN-AS1c.41654C>T (p.Pro13885Leu)
c.22739C>T (p.Pro7580Leu)
c.22538C>T (p.Pro7513Leu)
c.22163C>T (p.Pro7388Leu)
c.49358C>T (p.Pro16453Leu)
c.44435C>T (p.Pro14812Leu)
n.783-110G>A
c.48455C>T (p.Pro16152Leu)
c.22349C>T (p.Pro7450Leu)
c.22208C>T (p.Pro7403Leu)
c.48251C>T (p.Pro16084Leu)
c.43649C>T (p.Pro14550Leu)
c.43646C>T (p.Pro14549Leu)
c.40688C>T (p.Pro13563Leu)
c.22304C>T (p.Pro7435Leu)
c.43799C>T (p.Pro14600Leu)
c.43796C>T (p.Pro14599Leu)
c.43229C>T (p.Pro14410Leu)
c.40571C>T (p.Pro13524Leu)
c.40490C>T (p.Pro13497Leu)
c.22253C>T (p.Pro7418Leu)
c.12107C>T (p.Pro4036Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178613925G>CCA349604973TTN,TTN-AS1c.41654C>G (p.Pro13885Arg)
c.22739C>G (p.Pro7580Arg)
c.22538C>G (p.Pro7513Arg)
c.22163C>G (p.Pro7388Arg)
c.49358C>G (p.Pro16453Arg)
c.44435C>G (p.Pro14812Arg)
n.783-110G>C
c.48455C>G (p.Pro16152Arg)
c.22349C>G (p.Pro7450Arg)
c.22208C>G (p.Pro7403Arg)
c.48251C>G (p.Pro16084Arg)
c.43649C>G (p.Pro14550Arg)
c.43646C>G (p.Pro14549Arg)
c.40688C>G (p.Pro13563Arg)
c.22304C>G (p.Pro7435Arg)
c.43799C>G (p.Pro14600Arg)
c.43796C>G (p.Pro14599Arg)
c.43229C>G (p.Pro14410Arg)
c.40571C>G (p.Pro13524Arg)
c.40490C>G (p.Pro13497Arg)
c.22253C>G (p.Pro7418Arg)
c.12107C>G (p.Pro4036Arg)
2g.178613925G=CA1310549132TTN,TTN-AS1c.41654C= (p.Pro13885=)
c.22739C= (p.Pro7580=)
c.22538C= (p.Pro7513=)
c.22163C= (p.Pro7388=)
c.49358C= (p.Pro16453=)
c.44435C= (p.Pro14812=)
n.783-110G=
c.48455C= (p.Pro16152=)
c.22349C= (p.Pro7450=)
c.22208C= (p.Pro7403=)
c.48251C= (p.Pro16084=)
c.43649C= (p.Pro14550=)
c.43646C= (p.Pro14549=)
c.40688C= (p.Pro13563=)
c.22304C= (p.Pro7435=)
c.43799C= (p.Pro14600=)
c.43796C= (p.Pro14599=)
c.43229C= (p.Pro14410=)
c.40571C= (p.Pro13524=)
c.40490C= (p.Pro13497=)
c.22253C= (p.Pro7418=)
c.12107C= (p.Pro4036=)
2g.178613925G>TCA349604976TTN,TTN-AS1c.41654C>A (p.Pro13885His)
c.22739C>A (p.Pro7580His)
c.22538C>A (p.Pro7513His)
c.22163C>A (p.Pro7388His)
c.49358C>A (p.Pro16453His)
c.44435C>A (p.Pro14812His)
n.783-110G>T
c.48455C>A (p.Pro16152His)
c.22349C>A (p.Pro7450His)
c.22208C>A (p.Pro7403His)
c.48251C>A (p.Pro16084His)
c.43649C>A (p.Pro14550His)
c.43646C>A (p.Pro14549His)
c.40688C>A (p.Pro13563His)
c.22304C>A (p.Pro7435His)
c.43799C>A (p.Pro14600His)
c.43796C>A (p.Pro14599His)
c.43229C>A (p.Pro14410His)
c.40571C>A (p.Pro13524His)
c.40490C>A (p.Pro13497His)
c.22253C>A (p.Pro7418His)
c.12107C>A (p.Pro4036His)
2g.178613926G>ACA349604980TTN,TTN-AS1c.41653C>T (p.Pro13885Ser)
c.22738C>T (p.Pro7580Ser)
c.22537C>T (p.Pro7513Ser)
c.22162C>T (p.Pro7388Ser)
c.49357C>T (p.Pro16453Ser)
c.44434C>T (p.Pro14812Ser)
n.783-109G>A
c.48454C>T (p.Pro16152Ser)
c.22348C>T (p.Pro7450Ser)
c.22207C>T (p.Pro7403Ser)
c.48250C>T (p.Pro16084Ser)
c.43648C>T (p.Pro14550Ser)
c.43645C>T (p.Pro14549Ser)
c.40687C>T (p.Pro13563Ser)
c.22303C>T (p.Pro7435Ser)
c.43798C>T (p.Pro14600Ser)
c.43795C>T (p.Pro14599Ser)
c.43228C>T (p.Pro14410Ser)
c.40570C>T (p.Pro13524Ser)
c.40489C>T (p.Pro13497Ser)
c.22252C>T (p.Pro7418Ser)
c.12106C>T (p.Pro4036Ser)
 dbSNP
2g.178613926G>CCA349604982TTN,TTN-AS1c.41653C>G (p.Pro13885Ala)
c.22738C>G (p.Pro7580Ala)
c.22537C>G (p.Pro7513Ala)
c.22162C>G (p.Pro7388Ala)
c.49357C>G (p.Pro16453Ala)
c.44434C>G (p.Pro14812Ala)
n.783-109G>C
c.48454C>G (p.Pro16152Ala)
c.22348C>G (p.Pro7450Ala)
c.22207C>G (p.Pro7403Ala)
c.48250C>G (p.Pro16084Ala)
c.43648C>G (p.Pro14550Ala)
c.43645C>G (p.Pro14549Ala)
c.40687C>G (p.Pro13563Ala)
c.22303C>G (p.Pro7435Ala)
c.43798C>G (p.Pro14600Ala)
c.43795C>G (p.Pro14599Ala)
c.43228C>G (p.Pro14410Ala)
c.40570C>G (p.Pro13524Ala)
c.40489C>G (p.Pro13497Ala)
c.22252C>G (p.Pro7418Ala)
c.12106C>G (p.Pro4036Ala)
2g.178613926G=CA1310549133TTN,TTN-AS1c.41653C= (p.Pro13885=)
c.22738C= (p.Pro7580=)
c.22537C= (p.Pro7513=)
c.22162C= (p.Pro7388=)
c.49357C= (p.Pro16453=)
c.44434C= (p.Pro14812=)
n.783-109G=
c.48454C= (p.Pro16152=)
c.22348C= (p.Pro7450=)
c.22207C= (p.Pro7403=)
c.48250C= (p.Pro16084=)
c.43648C= (p.Pro14550=)
c.43645C= (p.Pro14549=)
c.40687C= (p.Pro13563=)
c.22303C= (p.Pro7435=)
c.43798C= (p.Pro14600=)
c.43795C= (p.Pro14599=)
c.43228C= (p.Pro14410=)
c.40570C= (p.Pro13524=)
c.40489C= (p.Pro13497=)
c.22252C= (p.Pro7418=)
c.12106C= (p.Pro4036=)
2g.178613926G>TCA1994613TTN,TTN-AS1c.41653C>A (p.Pro13885Thr)
c.22738C>A (p.Pro7580Thr)
c.22537C>A (p.Pro7513Thr)
c.22162C>A (p.Pro7388Thr)
c.49357C>A (p.Pro16453Thr)
c.44434C>A (p.Pro14812Thr)
n.783-109G>T
c.48454C>A (p.Pro16152Thr)
c.22348C>A (p.Pro7450Thr)
c.22207C>A (p.Pro7403Thr)
c.48250C>A (p.Pro16084Thr)
c.43648C>A (p.Pro14550Thr)
c.43645C>A (p.Pro14549Thr)
c.40687C>A (p.Pro13563Thr)
c.22303C>A (p.Pro7435Thr)
c.43798C>A (p.Pro14600Thr)
c.43795C>A (p.Pro14599Thr)
c.43228C>A (p.Pro14410Thr)
c.40570C>A (p.Pro13524Thr)
c.40489C>A (p.Pro13497Thr)
c.22252C>A (p.Pro7418Thr)
c.12106C>A (p.Pro4036Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178613927A>CCA430272931TTN,TTN-AS1c.41652T>G (p.Gly13884=)
c.22737T>G (p.Gly7579=)
c.22536T>G (p.Gly7512=)
c.22161T>G (p.Gly7387=)
c.49356T>G (p.Gly16452=)
c.44433T>G (p.Gly14811=)
n.783-108A>C
c.48453T>G (p.Gly16151=)
c.22347T>G (p.Gly7449=)
c.22206T>G (p.Gly7402=)
c.48249T>G (p.Gly16083=)
c.43647T>G (p.Gly14549=)
c.43644T>G (p.Gly14548=)
c.40686T>G (p.Gly13562=)
c.22302T>G (p.Gly7434=)
c.43797T>G (p.Gly14599=)
c.43794T>G (p.Gly14598=)
c.43227T>G (p.Gly14409=)
c.40569T>G (p.Gly13523=)
c.40488T>G (p.Gly13496=)
c.22251T>G (p.Gly7417=)
c.12105T>G (p.Gly4035=)
2g.178613927A>GCA430272933TTN,TTN-AS1c.41652T>C (p.Gly13884=)
c.22737T>C (p.Gly7579=)
c.22536T>C (p.Gly7512=)
c.22161T>C (p.Gly7387=)
c.49356T>C (p.Gly16452=)
c.44433T>C (p.Gly14811=)
n.783-108A>G
c.48453T>C (p.Gly16151=)
c.22347T>C (p.Gly7449=)
c.22206T>C (p.Gly7402=)
c.48249T>C (p.Gly16083=)
c.43647T>C (p.Gly14549=)
c.43644T>C (p.Gly14548=)
c.40686T>C (p.Gly13562=)
c.22302T>C (p.Gly7434=)
c.43797T>C (p.Gly14599=)
c.43794T>C (p.Gly14598=)
c.43227T>C (p.Gly14409=)
c.40569T>C (p.Gly13523=)
c.40488T>C (p.Gly13496=)
c.22251T>C (p.Gly7417=)
c.12105T>C (p.Gly4035=)
2g.178613927A>TCA430272934TTN,TTN-AS1c.41652T>A (p.Gly13884=)
c.22737T>A (p.Gly7579=)
c.22536T>A (p.Gly7512=)
c.22161T>A (p.Gly7387=)
c.49356T>A (p.Gly16452=)
c.44433T>A (p.Gly14811=)
n.783-108A>T
c.48453T>A (p.Gly16151=)
c.22347T>A (p.Gly7449=)
c.22206T>A (p.Gly7402=)
c.48249T>A (p.Gly16083=)
c.43647T>A (p.Gly14549=)
c.43644T>A (p.Gly14548=)
c.40686T>A (p.Gly13562=)
c.22302T>A (p.Gly7434=)
c.43797T>A (p.Gly14599=)
c.43794T>A (p.Gly14598=)
c.43227T>A (p.Gly14409=)
c.40569T>A (p.Gly13523=)
c.40488T>A (p.Gly13496=)
c.22251T>A (p.Gly7417=)
c.12105T>A (p.Gly4035=)
 dbSNP
2g.178613928C>ACA349604989TTN,TTN-AS1c.41651G>T (p.Gly13884Val)
c.22736G>T (p.Gly7579Val)
c.22535G>T (p.Gly7512Val)
c.22160G>T (p.Gly7387Val)
c.49355G>T (p.Gly16452Val)
c.44432G>T (p.Gly14811Val)
n.783-107C>A
c.48452G>T (p.Gly16151Val)
c.22346G>T (p.Gly7449Val)
c.22205G>T (p.Gly7402Val)
c.48248G>T (p.Gly16083Val)
c.43646G>T (p.Gly14549Val)
c.43643G>T (p.Gly14548Val)
c.40685G>T (p.Gly13562Val)
c.22301G>T (p.Gly7434Val)
c.43796G>T (p.Gly14599Val)
c.43793G>T (p.Gly14598Val)
c.43226G>T (p.Gly14409Val)
c.40568G>T (p.Gly13523Val)
c.40487G>T (p.Gly13496Val)
c.22250G>T (p.Gly7417Val)
c.12104G>T (p.Gly4035Val)
 COSMIC COSMIC COSMIC COSMIC
2g.178613928C>GCA349604990TTN,TTN-AS1c.41651G>C (p.Gly13884Ala)
c.22736G>C (p.Gly7579Ala)
c.22535G>C (p.Gly7512Ala)
c.22160G>C (p.Gly7387Ala)
c.49355G>C (p.Gly16452Ala)
c.44432G>C (p.Gly14811Ala)
n.783-107C>G
c.48452G>C (p.Gly16151Ala)
c.22346G>C (p.Gly7449Ala)
c.22205G>C (p.Gly7402Ala)
c.48248G>C (p.Gly16083Ala)
c.43646G>C (p.Gly14549Ala)
c.43643G>C (p.Gly14548Ala)
c.40685G>C (p.Gly13562Ala)
c.22301G>C (p.Gly7434Ala)
c.43796G>C (p.Gly14599Ala)
c.43793G>C (p.Gly14598Ala)
c.43226G>C (p.Gly14409Ala)
c.40568G>C (p.Gly13523Ala)
c.40487G>C (p.Gly13496Ala)
c.22250G>C (p.Gly7417Ala)
c.12104G>C (p.Gly4035Ala)
2g.178613928C>TCA349604993TTN,TTN-AS1c.41651G>A (p.Gly13884Asp)
c.22736G>A (p.Gly7579Asp)
c.22535G>A (p.Gly7512Asp)
c.22160G>A (p.Gly7387Asp)
c.49355G>A (p.Gly16452Asp)
c.44432G>A (p.Gly14811Asp)
n.783-107C>T
c.48452G>A (p.Gly16151Asp)
c.22346G>A (p.Gly7449Asp)
c.22205G>A (p.Gly7402Asp)
c.48248G>A (p.Gly16083Asp)
c.43646G>A (p.Gly14549Asp)
c.43643G>A (p.Gly14548Asp)
c.40685G>A (p.Gly13562Asp)
c.22301G>A (p.Gly7434Asp)
c.43796G>A (p.Gly14599Asp)
c.43793G>A (p.Gly14598Asp)
c.43226G>A (p.Gly14409Asp)
c.40568G>A (p.Gly13523Asp)
c.40487G>A (p.Gly13496Asp)
c.22250G>A (p.Gly7417Asp)
c.12104G>A (p.Gly4035Asp)
 gnomAD v4
2g.178613929C>ACA349604997TTN,TTN-AS1c.41650G>T (p.Gly13884Cys)
c.22735G>T (p.Gly7579Cys)
c.22534G>T (p.Gly7512Cys)
c.22159G>T (p.Gly7387Cys)
c.49354G>T (p.Gly16452Cys)
c.44431G>T (p.Gly14811Cys)
n.783-106C>A
c.48451G>T (p.Gly16151Cys)
c.22345G>T (p.Gly7449Cys)
c.22204G>T (p.Gly7402Cys)
c.48247G>T (p.Gly16083Cys)
c.43645G>T (p.Gly14549Cys)
c.43642G>T (p.Gly14548Cys)
c.40684G>T (p.Gly13562Cys)
c.22300G>T (p.Gly7434Cys)
c.43795G>T (p.Gly14599Cys)
c.43792G>T (p.Gly14598Cys)
c.43225G>T (p.Gly14409Cys)
c.40567G>T (p.Gly13523Cys)
c.40486G>T (p.Gly13496Cys)
c.22249G>T (p.Gly7417Cys)
c.12103G>T (p.Gly4035Cys)
2g.178613929C=CA1310549134TTN,TTN-AS1c.41650G= (p.Gly13884=)
c.22735G= (p.Gly7579=)
c.22534G= (p.Gly7512=)
c.22159G= (p.Gly7387=)
c.49354G= (p.Gly16452=)
c.44431G= (p.Gly14811=)
n.783-106C=
c.48451G= (p.Gly16151=)
c.22345G= (p.Gly7449=)
c.22204G= (p.Gly7402=)
c.48247G= (p.Gly16083=)
c.43645G= (p.Gly14549=)
c.43642G= (p.Gly14548=)
c.40684G= (p.Gly13562=)
c.22300G= (p.Gly7434=)
c.43795G= (p.Gly14599=)
c.43792G= (p.Gly14598=)
c.43225G= (p.Gly14409=)
c.40567G= (p.Gly13523=)
c.40486G= (p.Gly13496=)
c.22249G= (p.Gly7417=)
c.12103G= (p.Gly4035=)
2g.178613929C>GCA349605001TTN,TTN-AS1c.41650G>C (p.Gly13884Arg)
c.22735G>C (p.Gly7579Arg)
c.22534G>C (p.Gly7512Arg)
c.22159G>C (p.Gly7387Arg)
c.49354G>C (p.Gly16452Arg)
c.44431G>C (p.Gly14811Arg)
n.783-106C>G
c.48451G>C (p.Gly16151Arg)
c.22345G>C (p.Gly7449Arg)
c.22204G>C (p.Gly7402Arg)
c.48247G>C (p.Gly16083Arg)
c.43645G>C (p.Gly14549Arg)
c.43642G>C (p.Gly14548Arg)
c.40684G>C (p.Gly13562Arg)
c.22300G>C (p.Gly7434Arg)
c.43795G>C (p.Gly14599Arg)
c.43792G>C (p.Gly14598Arg)
c.43225G>C (p.Gly14409Arg)
c.40567G>C (p.Gly13523Arg)
c.40486G>C (p.Gly13496Arg)
c.22249G>C (p.Gly7417Arg)
c.12103G>C (p.Gly4035Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.178613929C>TCA349604995TTN,TTN-AS1c.41650G>A (p.Gly13884Ser)
c.22735G>A (p.Gly7579Ser)
c.22534G>A (p.Gly7512Ser)
c.22159G>A (p.Gly7387Ser)
c.49354G>A (p.Gly16452Ser)
c.44431G>A (p.Gly14811Ser)
n.783-106C>T
c.48451G>A (p.Gly16151Ser)
c.22345G>A (p.Gly7449Ser)
c.22204G>A (p.Gly7402Ser)
c.48247G>A (p.Gly16083Ser)
c.43645G>A (p.Gly14549Ser)
c.43642G>A (p.Gly14548Ser)
c.40684G>A (p.Gly13562Ser)
c.22300G>A (p.Gly7434Ser)
c.43795G>A (p.Gly14599Ser)
c.43792G>A (p.Gly14598Ser)
c.43225G>A (p.Gly14409Ser)
c.40567G>A (p.Gly13523Ser)
c.40486G>A (p.Gly13496Ser)
c.22249G>A (p.Gly7417Ser)
c.12103G>A (p.Gly4035Ser)
2g.178613930A>CCA430272937TTN,TTN-AS1c.41649T>G (p.Pro13883=)
c.22734T>G (p.Pro7578=)
c.22533T>G (p.Pro7511=)
c.22158T>G (p.Pro7386=)
c.49353T>G (p.Pro16451=)
c.44430T>G (p.Pro14810=)
n.783-105A>C
c.48450T>G (p.Pro16150=)
c.22344T>G (p.Pro7448=)
c.22203T>G (p.Pro7401=)
c.48246T>G (p.Pro16082=)
c.43644T>G (p.Pro14548=)
c.43641T>G (p.Pro14547=)
c.40683T>G (p.Pro13561=)
c.22299T>G (p.Pro7433=)
c.43794T>G (p.Pro14598=)
c.43791T>G (p.Pro14597=)
c.43224T>G (p.Pro14408=)
c.40566T>G (p.Pro13522=)
c.40485T>G (p.Pro13495=)
c.22248T>G (p.Pro7416=)
c.12102T>G (p.Pro4034=)
2g.178613930A>GCA430272935TTN,TTN-AS1c.41649T>C (p.Pro13883=)
c.22734T>C (p.Pro7578=)
c.22533T>C (p.Pro7511=)
c.22158T>C (p.Pro7386=)
c.49353T>C (p.Pro16451=)
c.44430T>C (p.Pro14810=)
n.783-105A>G
c.48450T>C (p.Pro16150=)
c.22344T>C (p.Pro7448=)
c.22203T>C (p.Pro7401=)
c.48246T>C (p.Pro16082=)
c.43644T>C (p.Pro14548=)
c.43641T>C (p.Pro14547=)
c.40683T>C (p.Pro13561=)
c.22299T>C (p.Pro7433=)
c.43794T>C (p.Pro14598=)
c.43791T>C (p.Pro14597=)
c.43224T>C (p.Pro14408=)
c.40566T>C (p.Pro13522=)
c.40485T>C (p.Pro13495=)
c.22248T>C (p.Pro7416=)
c.12102T>C (p.Pro4034=)
2g.178613930A>TCA430272936TTN,TTN-AS1c.41649T>A (p.Pro13883=)
c.22734T>A (p.Pro7578=)
c.22533T>A (p.Pro7511=)
c.22158T>A (p.Pro7386=)
c.49353T>A (p.Pro16451=)
c.44430T>A (p.Pro14810=)
n.783-105A>T
c.48450T>A (p.Pro16150=)
c.22344T>A (p.Pro7448=)
c.22203T>A (p.Pro7401=)
c.48246T>A (p.Pro16082=)
c.43644T>A (p.Pro14548=)
c.43641T>A (p.Pro14547=)
c.40683T>A (p.Pro13561=)
c.22299T>A (p.Pro7433=)
c.43794T>A (p.Pro14598=)
c.43791T>A (p.Pro14597=)
c.43224T>A (p.Pro14408=)
c.40566T>A (p.Pro13522=)
c.40485T>A (p.Pro13495=)
c.22248T>A (p.Pro7416=)
c.12102T>A (p.Pro4034=)
2g.178613931G>ACA349605008TTN,TTN-AS1c.41648C>T (p.Pro13883Leu)
c.22733C>T (p.Pro7578Leu)
c.22532C>T (p.Pro7511Leu)
c.22157C>T (p.Pro7386Leu)
c.49352C>T (p.Pro16451Leu)
c.44429C>T (p.Pro14810Leu)
n.783-104G>A
c.48449C>T (p.Pro16150Leu)
c.22343C>T (p.Pro7448Leu)
c.22202C>T (p.Pro7401Leu)
c.48245C>T (p.Pro16082Leu)
c.43643C>T (p.Pro14548Leu)
c.43640C>T (p.Pro14547Leu)
c.40682C>T (p.Pro13561Leu)
c.22298C>T (p.Pro7433Leu)
c.43793C>T (p.Pro14598Leu)
c.43790C>T (p.Pro14597Leu)
c.43223C>T (p.Pro14408Leu)
c.40565C>T (p.Pro13522Leu)
c.40484C>T (p.Pro13495Leu)
c.22247C>T (p.Pro7416Leu)
c.12101C>T (p.Pro4034Leu)
 gnomAD v4
2g.178613931G>CCA349605018TTN,TTN-AS1c.41648C>G (p.Pro13883Arg)
c.22733C>G (p.Pro7578Arg)
c.22532C>G (p.Pro7511Arg)
c.22157C>G (p.Pro7386Arg)
c.49352C>G (p.Pro16451Arg)
c.44429C>G (p.Pro14810Arg)
n.783-104G>C
c.48449C>G (p.Pro16150Arg)
c.22343C>G (p.Pro7448Arg)
c.22202C>G (p.Pro7401Arg)
c.48245C>G (p.Pro16082Arg)
c.43643C>G (p.Pro14548Arg)
c.43640C>G (p.Pro14547Arg)
c.40682C>G (p.Pro13561Arg)
c.22298C>G (p.Pro7433Arg)
c.43793C>G (p.Pro14598Arg)
c.43790C>G (p.Pro14597Arg)
c.43223C>G (p.Pro14408Arg)
c.40565C>G (p.Pro13522Arg)
c.40484C>G (p.Pro13495Arg)
c.22247C>G (p.Pro7416Arg)
c.12101C>G (p.Pro4034Arg)
2g.178613931G>TCA349605021TTN,TTN-AS1c.41648C>A (p.Pro13883His)
c.22733C>A (p.Pro7578His)
c.22532C>A (p.Pro7511His)
c.22157C>A (p.Pro7386His)
c.49352C>A (p.Pro16451His)
c.44429C>A (p.Pro14810His)
n.783-104G>T
c.48449C>A (p.Pro16150His)
c.22343C>A (p.Pro7448His)
c.22202C>A (p.Pro7401His)
c.48245C>A (p.Pro16082His)
c.43643C>A (p.Pro14548His)
c.43640C>A (p.Pro14547His)
c.40682C>A (p.Pro13561His)
c.22298C>A (p.Pro7433His)
c.43793C>A (p.Pro14598His)
c.43790C>A (p.Pro14597His)
c.43223C>A (p.Pro14408His)
c.40565C>A (p.Pro13522His)
c.40484C>A (p.Pro13495His)
c.22247C>A (p.Pro7416His)
c.12101C>A (p.Pro4034His)
2g.178613932G>ACA349605024TTN,TTN-AS1c.41647C>T (p.Pro13883Ser)
c.22732C>T (p.Pro7578Ser)
c.22531C>T (p.Pro7511Ser)
c.22156C>T (p.Pro7386Ser)
c.49351C>T (p.Pro16451Ser)
c.44428C>T (p.Pro14810Ser)
n.783-103G>A
c.48448C>T (p.Pro16150Ser)
c.22342C>T (p.Pro7448Ser)
c.22201C>T (p.Pro7401Ser)
c.48244C>T (p.Pro16082Ser)
c.43642C>T (p.Pro14548Ser)
c.43639C>T (p.Pro14547Ser)
c.40681C>T (p.Pro13561Ser)
c.22297C>T (p.Pro7433Ser)
c.43792C>T (p.Pro14598Ser)
c.43789C>T (p.Pro14597Ser)
c.43222C>T (p.Pro14408Ser)
c.40564C>T (p.Pro13522Ser)
c.40483C>T (p.Pro13495Ser)
c.22246C>T (p.Pro7416Ser)
c.12100C>T (p.Pro4034Ser)
 dbSNP gnomAD v4
2g.178613932G>CCA349605025TTN,TTN-AS1c.41647C>G (p.Pro13883Ala)
c.22732C>G (p.Pro7578Ala)
c.22531C>G (p.Pro7511Ala)
c.22156C>G (p.Pro7386Ala)
c.49351C>G (p.Pro16451Ala)
c.44428C>G (p.Pro14810Ala)
n.783-103G>C
c.48448C>G (p.Pro16150Ala)
c.22342C>G (p.Pro7448Ala)
c.22201C>G (p.Pro7401Ala)
c.48244C>G (p.Pro16082Ala)
c.43642C>G (p.Pro14548Ala)
c.43639C>G (p.Pro14547Ala)
c.40681C>G (p.Pro13561Ala)
c.22297C>G (p.Pro7433Ala)
c.43792C>G (p.Pro14598Ala)
c.43789C>G (p.Pro14597Ala)
c.43222C>G (p.Pro14408Ala)
c.40564C>G (p.Pro13522Ala)
c.40483C>G (p.Pro13495Ala)
c.22246C>G (p.Pro7416Ala)
c.12100C>G (p.Pro4034Ala)
2g.178613932G=CA1310549135TTN,TTN-AS1c.41647C= (p.Pro13883=)
c.22732C= (p.Pro7578=)
c.22531C= (p.Pro7511=)
c.22156C= (p.Pro7386=)
c.49351C= (p.Pro16451=)
c.44428C= (p.Pro14810=)
n.783-103G=
c.48448C= (p.Pro16150=)
c.22342C= (p.Pro7448=)
c.22201C= (p.Pro7401=)
c.48244C= (p.Pro16082=)
c.43642C= (p.Pro14548=)
c.43639C= (p.Pro14547=)
c.40681C= (p.Pro13561=)
c.22297C= (p.Pro7433=)
c.43792C= (p.Pro14598=)
c.43789C= (p.Pro14597=)
c.43222C= (p.Pro14408=)
c.40564C= (p.Pro13522=)
c.40483C= (p.Pro13495=)
c.22246C= (p.Pro7416=)
c.12100C= (p.Pro4034=)
2g.178613932G>TCA349605026TTN,TTN-AS1c.41647C>A (p.Pro13883Thr)
c.22732C>A (p.Pro7578Thr)
c.22531C>A (p.Pro7511Thr)
c.22156C>A (p.Pro7386Thr)
c.49351C>A (p.Pro16451Thr)
c.44428C>A (p.Pro14810Thr)
n.783-103G>T
c.48448C>A (p.Pro16150Thr)
c.22342C>A (p.Pro7448Thr)
c.22201C>A (p.Pro7401Thr)
c.48244C>A (p.Pro16082Thr)
c.43642C>A (p.Pro14548Thr)
c.43639C>A (p.Pro14547Thr)
c.40681C>A (p.Pro13561Thr)
c.22297C>A (p.Pro7433Thr)
c.43792C>A (p.Pro14598Thr)
c.43789C>A (p.Pro14597Thr)
c.43222C>A (p.Pro14408Thr)
c.40564C>A (p.Pro13522Thr)
c.40483C>A (p.Pro13495Thr)
c.22246C>A (p.Pro7416Thr)
c.12100C>A (p.Pro4034Thr)
2g.178613933T>ACA430272939TTN,TTN-AS1c.41646A>T (p.Pro13882=)
c.22731A>T (p.Pro7577=)
c.22530A>T (p.Pro7510=)
c.22155A>T (p.Pro7385=)
c.49350A>T (p.Pro16450=)
c.44427A>T (p.Pro14809=)
n.783-102T>A
c.48447A>T (p.Pro16149=)
c.22341A>T (p.Pro7447=)
c.22200A>T (p.Pro7400=)
c.48243A>T (p.Pro16081=)
c.43641A>T (p.Pro14547=)
c.43638A>T (p.Pro14546=)
c.40680A>T (p.Pro13560=)
c.22296A>T (p.Pro7432=)
c.43791A>T (p.Pro14597=)
c.43788A>T (p.Pro14596=)
c.43221A>T (p.Pro14407=)
c.40563A>T (p.Pro13521=)
c.40482A>T (p.Pro13494=)
c.22245A>T (p.Pro7415=)
c.12099A>T (p.Pro4033=)
 ClinVar dbSNP
2g.178613933T>CCA430272941TTN,TTN-AS1c.41646A>G (p.Pro13882=)
c.22731A>G (p.Pro7577=)
c.22530A>G (p.Pro7510=)
c.22155A>G (p.Pro7385=)
c.49350A>G (p.Pro16450=)
c.44427A>G (p.Pro14809=)
n.783-102T>C
c.48447A>G (p.Pro16149=)
c.22341A>G (p.Pro7447=)
c.22200A>G (p.Pro7400=)
c.48243A>G (p.Pro16081=)
c.43641A>G (p.Pro14547=)
c.43638A>G (p.Pro14546=)
c.40680A>G (p.Pro13560=)
c.22296A>G (p.Pro7432=)
c.43791A>G (p.Pro14597=)
c.43788A>G (p.Pro14596=)
c.43221A>G (p.Pro14407=)
c.40563A>G (p.Pro13521=)
c.40482A>G (p.Pro13494=)
c.22245A>G (p.Pro7415=)
c.12099A>G (p.Pro4033=)
2g.178613933T>GCA430272942TTN,TTN-AS1c.41646A>C (p.Pro13882=)
c.22731A>C (p.Pro7577=)
c.22530A>C (p.Pro7510=)
c.22155A>C (p.Pro7385=)
c.49350A>C (p.Pro16450=)
c.44427A>C (p.Pro14809=)
n.783-102T>G
c.48447A>C (p.Pro16149=)
c.22341A>C (p.Pro7447=)
c.22200A>C (p.Pro7400=)
c.48243A>C (p.Pro16081=)
c.43641A>C (p.Pro14547=)
c.43638A>C (p.Pro14546=)
c.40680A>C (p.Pro13560=)
c.22296A>C (p.Pro7432=)
c.43791A>C (p.Pro14597=)
c.43788A>C (p.Pro14596=)
c.43221A>C (p.Pro14407=)
c.40563A>C (p.Pro13521=)
c.40482A>C (p.Pro13494=)
c.22245A>C (p.Pro7415=)
c.12099A>C (p.Pro4033=)
2g.178613933T=CA1310549136TTN,TTN-AS1c.41646A= (p.Pro13882=)
c.22731A= (p.Pro7577=)
c.22530A= (p.Pro7510=)
c.22155A= (p.Pro7385=)
c.49350A= (p.Pro16450=)
c.44427A= (p.Pro14809=)
n.783-102T=
c.48447A= (p.Pro16149=)
c.22341A= (p.Pro7447=)
c.22200A= (p.Pro7400=)
c.48243A= (p.Pro16081=)
c.43641A= (p.Pro14547=)
c.43638A= (p.Pro14546=)
c.40680A= (p.Pro13560=)
c.22296A= (p.Pro7432=)
c.43791A= (p.Pro14597=)
c.43788A= (p.Pro14596=)
c.43221A= (p.Pro14407=)
c.40563A= (p.Pro13521=)
c.40482A= (p.Pro13494=)
c.22245A= (p.Pro7415=)
c.12099A= (p.Pro4033=)
2g.178613934G>ACA349605027TTN,TTN-AS1c.41645C>T (p.Pro13882Leu)
c.22730C>T (p.Pro7577Leu)
c.22529C>T (p.Pro7510Leu)
c.22154C>T (p.Pro7385Leu)
c.49349C>T (p.Pro16450Leu)
c.44426C>T (p.Pro14809Leu)
n.783-101G>A
c.48446C>T (p.Pro16149Leu)
c.22340C>T (p.Pro7447Leu)
c.22199C>T (p.Pro7400Leu)
c.48242C>T (p.Pro16081Leu)
c.43640C>T (p.Pro14547Leu)
c.43637C>T (p.Pro14546Leu)
c.40679C>T (p.Pro13560Leu)
c.22295C>T (p.Pro7432Leu)
c.43790C>T (p.Pro14597Leu)
c.43787C>T (p.Pro14596Leu)
c.43220C>T (p.Pro14407Leu)
c.40562C>T (p.Pro13521Leu)
c.40481C>T (p.Pro13494Leu)
c.22244C>T (p.Pro7415Leu)
c.12098C>T (p.Pro4033Leu)
 dbSNP
2g.178613934G>CCA349605029TTN,TTN-AS1c.41645C>G (p.Pro13882Arg)
c.22730C>G (p.Pro7577Arg)
c.22529C>G (p.Pro7510Arg)
c.22154C>G (p.Pro7385Arg)
c.49349C>G (p.Pro16450Arg)
c.44426C>G (p.Pro14809Arg)
n.783-101G>C
c.48446C>G (p.Pro16149Arg)
c.22340C>G (p.Pro7447Arg)
c.22199C>G (p.Pro7400Arg)
c.48242C>G (p.Pro16081Arg)
c.43640C>G (p.Pro14547Arg)
c.43637C>G (p.Pro14546Arg)
c.40679C>G (p.Pro13560Arg)
c.22295C>G (p.Pro7432Arg)
c.43790C>G (p.Pro14597Arg)
c.43787C>G (p.Pro14596Arg)
c.43220C>G (p.Pro14407Arg)
c.40562C>G (p.Pro13521Arg)
c.40481C>G (p.Pro13494Arg)
c.22244C>G (p.Pro7415Arg)
c.12098C>G (p.Pro4033Arg)
2g.178613934G=CA1310549137TTN,TTN-AS1c.41645C= (p.Pro13882=)
c.22730C= (p.Pro7577=)
c.22529C= (p.Pro7510=)
c.22154C= (p.Pro7385=)
c.49349C= (p.Pro16450=)
c.44426C= (p.Pro14809=)
n.783-101G=
c.48446C= (p.Pro16149=)
c.22340C= (p.Pro7447=)
c.22199C= (p.Pro7400=)
c.48242C= (p.Pro16081=)
c.43640C= (p.Pro14547=)
c.43637C= (p.Pro14546=)
c.40679C= (p.Pro13560=)
c.22295C= (p.Pro7432=)
c.43790C= (p.Pro14597=)
c.43787C= (p.Pro14596=)
c.43220C= (p.Pro14407=)
c.40562C= (p.Pro13521=)
c.40481C= (p.Pro13494=)
c.22244C= (p.Pro7415=)
c.12098C= (p.Pro4033=)
2g.178613934G>TCA349605031TTN,TTN-AS1c.41645C>A (p.Pro13882Gln)
c.22730C>A (p.Pro7577Gln)
c.22529C>A (p.Pro7510Gln)
c.22154C>A (p.Pro7385Gln)
c.49349C>A (p.Pro16450Gln)
c.44426C>A (p.Pro14809Gln)
n.783-101G>T
c.48446C>A (p.Pro16149Gln)
c.22340C>A (p.Pro7447Gln)
c.22199C>A (p.Pro7400Gln)
c.48242C>A (p.Pro16081Gln)
c.43640C>A (p.Pro14547Gln)
c.43637C>A (p.Pro14546Gln)
c.40679C>A (p.Pro13560Gln)
c.22295C>A (p.Pro7432Gln)
c.43790C>A (p.Pro14597Gln)
c.43787C>A (p.Pro14596Gln)
c.43220C>A (p.Pro14407Gln)
c.40562C>A (p.Pro13521Gln)
c.40481C>A (p.Pro13494Gln)
c.22244C>A (p.Pro7415Gln)
c.12098C>A (p.Pro4033Gln)
2g.178613935G>ACA349605034TTN,TTN-AS1c.41644C>T (p.Pro13882Ser)
c.22729C>T (p.Pro7577Ser)
c.22528C>T (p.Pro7510Ser)
c.22153C>T (p.Pro7385Ser)
c.49348C>T (p.Pro16450Ser)
c.44425C>T (p.Pro14809Ser)
n.783-100G>A
c.48445C>T (p.Pro16149Ser)
c.22339C>T (p.Pro7447Ser)
c.22198C>T (p.Pro7400Ser)
c.48241C>T (p.Pro16081Ser)
c.43639C>T (p.Pro14547Ser)
c.43636C>T (p.Pro14546Ser)
c.40678C>T (p.Pro13560Ser)
c.22294C>T (p.Pro7432Ser)
c.43789C>T (p.Pro14597Ser)
c.43786C>T (p.Pro14596Ser)
c.43219C>T (p.Pro14407Ser)
c.40561C>T (p.Pro13521Ser)
c.40480C>T (p.Pro13494Ser)
c.22243C>T (p.Pro7415Ser)
c.12097C>T (p.Pro4033Ser)
 dbSNP
2g.178613935G>CCA349605037TTN,TTN-AS1c.41644C>G (p.Pro13882Ala)
c.22729C>G (p.Pro7577Ala)
c.22528C>G (p.Pro7510Ala)
c.22153C>G (p.Pro7385Ala)
c.49348C>G (p.Pro16450Ala)
c.44425C>G (p.Pro14809Ala)
n.783-100G>C
c.48445C>G (p.Pro16149Ala)
c.22339C>G (p.Pro7447Ala)
c.22198C>G (p.Pro7400Ala)
c.48241C>G (p.Pro16081Ala)
c.43639C>G (p.Pro14547Ala)
c.43636C>G (p.Pro14546Ala)
c.40678C>G (p.Pro13560Ala)
c.22294C>G (p.Pro7432Ala)
c.43789C>G (p.Pro14597Ala)
c.43786C>G (p.Pro14596Ala)
c.43219C>G (p.Pro14407Ala)
c.40561C>G (p.Pro13521Ala)
c.40480C>G (p.Pro13494Ala)
c.22243C>G (p.Pro7415Ala)
c.12097C>G (p.Pro4033Ala)
2g.178613935G=CA1310549138TTN,TTN-AS1c.41644C= (p.Pro13882=)
c.22729C= (p.Pro7577=)
c.22528C= (p.Pro7510=)
c.22153C= (p.Pro7385=)
c.49348C= (p.Pro16450=)
c.44425C= (p.Pro14809=)
n.783-100G=
c.48445C= (p.Pro16149=)
c.22339C= (p.Pro7447=)
c.22198C= (p.Pro7400=)
c.48241C= (p.Pro16081=)
c.43639C= (p.Pro14547=)
c.43636C= (p.Pro14546=)
c.40678C= (p.Pro13560=)
c.22294C= (p.Pro7432=)
c.43789C= (p.Pro14597=)
c.43786C= (p.Pro14596=)
c.43219C= (p.Pro14407=)
c.40561C= (p.Pro13521=)
c.40480C= (p.Pro13494=)
c.22243C= (p.Pro7415=)
c.12097C= (p.Pro4033=)
2g.178613935G>TCA349605044TTN,TTN-AS1c.41644C>A (p.Pro13882Thr)
c.22729C>A (p.Pro7577Thr)
c.22528C>A (p.Pro7510Thr)
c.22153C>A (p.Pro7385Thr)
c.49348C>A (p.Pro16450Thr)
c.44425C>A (p.Pro14809Thr)
n.783-100G>T
c.48445C>A (p.Pro16149Thr)
c.22339C>A (p.Pro7447Thr)
c.22198C>A (p.Pro7400Thr)
c.48241C>A (p.Pro16081Thr)
c.43639C>A (p.Pro14547Thr)
c.43636C>A (p.Pro14546Thr)
c.40678C>A (p.Pro13560Thr)
c.22294C>A (p.Pro7432Thr)
c.43789C>A (p.Pro14597Thr)
c.43786C>A (p.Pro14596Thr)
c.43219C>A (p.Pro14407Thr)
c.40561C>A (p.Pro13521Thr)
c.40480C>A (p.Pro13494Thr)
c.22243C>A (p.Pro7415Thr)
c.12097C>A (p.Pro4033Thr)
2g.178613936A=CA1310549139TTN,TTN-AS1c.41643T= (p.Asp13881=)
c.22728T= (p.Asp7576=)
c.22527T= (p.Asp7509=)
c.22152T= (p.Asp7384=)
c.49347T= (p.Asp16449=)
c.44424T= (p.Asp14808=)
n.783-99A=
c.48444T= (p.Asp16148=)
c.22338T= (p.Asp7446=)
c.22197T= (p.Asp7399=)
c.48240T= (p.Asp16080=)
c.43638T= (p.Asp14546=)
c.43635T= (p.Asp14545=)
c.40677T= (p.Asp13559=)
c.22293T= (p.Asp7431=)
c.43788T= (p.Asp14596=)
c.43785T= (p.Asp14595=)
c.43218T= (p.Asp14406=)
c.40560T= (p.Asp13520=)
c.40479T= (p.Asp13493=)
c.22242T= (p.Asp7414=)
c.12096T= (p.Asp4032=)
2g.178613936A>CCA349605049TTN,TTN-AS1c.41643T>G (p.Asp13881Glu)
c.22728T>G (p.Asp7576Glu)
c.22527T>G (p.Asp7509Glu)
c.22152T>G (p.Asp7384Glu)
c.49347T>G (p.Asp16449Glu)
c.44424T>G (p.Asp14808Glu)
n.783-99A>C
c.48444T>G (p.Asp16148Glu)
c.22338T>G (p.Asp7446Glu)
c.22197T>G (p.Asp7399Glu)
c.48240T>G (p.Asp16080Glu)
c.43638T>G (p.Asp14546Glu)
c.43635T>G (p.Asp14545Glu)
c.40677T>G (p.Asp13559Glu)
c.22293T>G (p.Asp7431Glu)
c.43788T>G (p.Asp14596Glu)
c.43785T>G (p.Asp14595Glu)
c.43218T>G (p.Asp14406Glu)
c.40560T>G (p.Asp13520Glu)
c.40479T>G (p.Asp13493Glu)
c.22242T>G (p.Asp7414Glu)
c.12096T>G (p.Asp4032Glu)
2g.178613936A>GCA1994614TTN,TTN-AS1c.41643T>C (p.Asp13881=)
c.22728T>C (p.Asp7576=)
c.22527T>C (p.Asp7509=)
c.22152T>C (p.Asp7384=)
c.49347T>C (p.Asp16449=)
c.44424T>C (p.Asp14808=)
n.783-99A>G
c.48444T>C (p.Asp16148=)
c.22338T>C (p.Asp7446=)
c.22197T>C (p.Asp7399=)
c.48240T>C (p.Asp16080=)
c.43638T>C (p.Asp14546=)
c.43635T>C (p.Asp14545=)
c.40677T>C (p.Asp13559=)
c.22293T>C (p.Asp7431=)
c.43788T>C (p.Asp14596=)
c.43785T>C (p.Asp14595=)
c.43218T>C (p.Asp14406=)
c.40560T>C (p.Asp13520=)
c.40479T>C (p.Asp13493=)
c.22242T>C (p.Asp7414=)
c.12096T>C (p.Asp4032=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178613936A>TCA349605047TTN,TTN-AS1c.41643T>A (p.Asp13881Glu)
c.22728T>A (p.Asp7576Glu)
c.22527T>A (p.Asp7509Glu)
c.22152T>A (p.Asp7384Glu)
c.49347T>A (p.Asp16449Glu)
c.44424T>A (p.Asp14808Glu)
n.783-99A>T
c.48444T>A (p.Asp16148Glu)
c.22338T>A (p.Asp7446Glu)
c.22197T>A (p.Asp7399Glu)
c.48240T>A (p.Asp16080Glu)
c.43638T>A (p.Asp14546Glu)
c.43635T>A (p.Asp14545Glu)
c.40677T>A (p.Asp13559Glu)
c.22293T>A (p.Asp7431Glu)
c.43788T>A (p.Asp14596Glu)
c.43785T>A (p.Asp14595Glu)
c.43218T>A (p.Asp14406Glu)
c.40560T>A (p.Asp13520Glu)
c.40479T>A (p.Asp13493Glu)
c.22242T>A (p.Asp7414Glu)
c.12096T>A (p.Asp4032Glu)
 gnomAD v4
2g.178613937T>ACA349605057TTN,TTN-AS1c.41642A>T (p.Asp13881Val)
c.22727A>T (p.Asp7576Val)
c.22526A>T (p.Asp7509Val)
c.22151A>T (p.Asp7384Val)
c.49346A>T (p.Asp16449Val)
c.44423A>T (p.Asp14808Val)
n.783-98T>A
c.48443A>T (p.Asp16148Val)
c.22337A>T (p.Asp7446Val)
c.22196A>T (p.Asp7399Val)
c.48239A>T (p.Asp16080Val)
c.43637A>T (p.Asp14546Val)
c.43634A>T (p.Asp14545Val)
c.40676A>T (p.Asp13559Val)
c.22292A>T (p.Asp7431Val)
c.43787A>T (p.Asp14596Val)
c.43784A>T (p.Asp14595Val)
c.43217A>T (p.Asp14406Val)
c.40559A>T (p.Asp13520Val)
c.40478A>T (p.Asp13493Val)
c.22241A>T (p.Asp7414Val)
c.12095A>T (p.Asp4032Val)
2g.178613937T>CCA349605060TTN,TTN-AS1c.41642A>G (p.Asp13881Gly)
c.22727A>G (p.Asp7576Gly)
c.22526A>G (p.Asp7509Gly)
c.22151A>G (p.Asp7384Gly)
c.49346A>G (p.Asp16449Gly)
c.44423A>G (p.Asp14808Gly)
n.783-98T>C
c.48443A>G (p.Asp16148Gly)
c.22337A>G (p.Asp7446Gly)
c.22196A>G (p.Asp7399Gly)
c.48239A>G (p.Asp16080Gly)
c.43637A>G (p.Asp14546Gly)
c.43634A>G (p.Asp14545Gly)
c.40676A>G (p.Asp13559Gly)
c.22292A>G (p.Asp7431Gly)
c.43787A>G (p.Asp14596Gly)
c.43784A>G (p.Asp14595Gly)
c.43217A>G (p.Asp14406Gly)
c.40559A>G (p.Asp13520Gly)
c.40478A>G (p.Asp13493Gly)
c.22241A>G (p.Asp7414Gly)
c.12095A>G (p.Asp4032Gly)
2g.178613937T>GCA349605061TTN,TTN-AS1c.41642A>C (p.Asp13881Ala)
c.22727A>C (p.Asp7576Ala)
c.22526A>C (p.Asp7509Ala)
c.22151A>C (p.Asp7384Ala)
c.49346A>C (p.Asp16449Ala)
c.44423A>C (p.Asp14808Ala)
n.783-98T>G
c.48443A>C (p.Asp16148Ala)
c.22337A>C (p.Asp7446Ala)
c.22196A>C (p.Asp7399Ala)
c.48239A>C (p.Asp16080Ala)
c.43637A>C (p.Asp14546Ala)
c.43634A>C (p.Asp14545Ala)
c.40676A>C (p.Asp13559Ala)
c.22292A>C (p.Asp7431Ala)
c.43787A>C (p.Asp14596Ala)
c.43784A>C (p.Asp14595Ala)
c.43217A>C (p.Asp14406Ala)
c.40559A>C (p.Asp13520Ala)
c.40478A>C (p.Asp13493Ala)
c.22241A>C (p.Asp7414Ala)
c.12095A>C (p.Asp4032Ala)
2g.178613938C>ACA349605063TTN,TTN-AS1c.41642-1G>T (n.41642-1G>T)
c.22727-1G>T (n.22727-1G>T)
c.22526-1G>T (n.22526-1G>T)
c.22151-1G>T (n.22151-1G>T)
c.49346-1G>T (n.49346-1G>T)
c.44423-1G>T (n.44423-1G>T)
n.783-97C>A
c.48443-1G>T (n.48443-1G>T)
c.22337-1G>T (n.22337-1G>T)
c.22196-1G>T (n.22196-1G>T)
c.48239-1G>T (n.48239-1G>T)
c.43637-1G>T (n.43637-1G>T)
c.43634-1G>T (n.43634-1G>T)
c.40676-1G>T (n.40676-1G>T)
c.22292-1G>T (n.22292-1G>T)
c.43787-1G>T (n.43787-1G>T)
c.43784-1G>T (n.43784-1G>T)
c.43217-1G>T (n.43217-1G>T)
c.40559-1G>T (n.40559-1G>T)
c.40478-1G>T (n.40478-1G>T)
c.22241-1G>T (n.22241-1G>T)
c.12095-1G>T (n.12095-1G>T)
 COSMIC COSMIC COSMIC COSMIC
2g.178613938C=CA1310549140TTN,TTN-AS1c.41642-1G= (n.41642-1G=)
c.22727-1G= (n.22727-1G=)
c.22526-1G= (n.22526-1G=)
c.22151-1G= (n.22151-1G=)
c.49346-1G= (n.49346-1G=)
c.44423-1G= (n.44423-1G=)
n.783-97C=
c.48443-1G= (n.48443-1G=)
c.22337-1G= (n.22337-1G=)
c.22196-1G= (n.22196-1G=)
c.48239-1G= (n.48239-1G=)
c.43637-1G= (n.43637-1G=)
c.43634-1G= (n.43634-1G=)
c.40676-1G= (n.40676-1G=)
c.22292-1G= (n.22292-1G=)
c.43787-1G= (n.43787-1G=)
c.43784-1G= (n.43784-1G=)
c.43217-1G= (n.43217-1G=)
c.40559-1G= (n.40559-1G=)
c.40478-1G= (n.40478-1G=)
c.22241-1G= (n.22241-1G=)
c.12095-1G= (n.12095-1G=)
2g.178613938C>GCA349605066TTN,TTN-AS1c.41642-1G>C (n.41642-1G>C)
c.22727-1G>C (n.22727-1G>C)
c.22526-1G>C (n.22526-1G>C)
c.22151-1G>C (n.22151-1G>C)
c.49346-1G>C (n.49346-1G>C)
c.44423-1G>C (n.44423-1G>C)
n.783-97C>G
c.48443-1G>C (n.48443-1G>C)
c.22337-1G>C (n.22337-1G>C)
c.22196-1G>C (n.22196-1G>C)
c.48239-1G>C (n.48239-1G>C)
c.43637-1G>C (n.43637-1G>C)
c.43634-1G>C (n.43634-1G>C)
c.40676-1G>C (n.40676-1G>C)
c.22292-1G>C (n.22292-1G>C)
c.43787-1G>C (n.43787-1G>C)
c.43784-1G>C (n.43784-1G>C)
c.43217-1G>C (n.43217-1G>C)
c.40559-1G>C (n.40559-1G>C)
c.40478-1G>C (n.40478-1G>C)
c.22241-1G>C (n.22241-1G>C)
c.12095-1G>C (n.12095-1G>C)
2g.178613938C>TCA353085TTN,TTN-AS1c.41642-1G>A (n.41642-1G>A)
c.22727-1G>A (n.22727-1G>A)
c.22526-1G>A (n.22526-1G>A)
c.22151-1G>A (n.22151-1G>A)
c.49346-1G>A (n.49346-1G>A)
c.44423-1G>A (n.44423-1G>A)
n.783-97C>T
c.48443-1G>A (n.48443-1G>A)
c.22337-1G>A (n.22337-1G>A)
c.22196-1G>A (n.22196-1G>A)
c.48239-1G>A (n.48239-1G>A)
c.43637-1G>A (n.43637-1G>A)
c.43634-1G>A (n.43634-1G>A)
c.40676-1G>A (n.40676-1G>A)
c.22292-1G>A (n.22292-1G>A)
c.43787-1G>A (n.43787-1G>A)
c.43784-1G>A (n.43784-1G>A)
c.43217-1G>A (n.43217-1G>A)
c.40559-1G>A (n.40559-1G>A)
c.40478-1G>A (n.40478-1G>A)
c.22241-1G>A (n.22241-1G>A)
c.12095-1G>A (n.12095-1G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178613939T>ACA309231TTN,TTN-AS1c.41642-2A>T (n.41642-2A>T)
c.22727-2A>T (n.22727-2A>T)
c.22526-2A>T (n.22526-2A>T)
c.22151-2A>T (n.22151-2A>T)
c.49346-2A>T (n.49346-2A>T)
c.44423-2A>T (n.44423-2A>T)
n.783-96T>A
c.48443-2A>T (n.48443-2A>T)
c.22337-2A>T (n.22337-2A>T)
c.22196-2A>T (n.22196-2A>T)
c.48239-2A>T (n.48239-2A>T)
c.43637-2A>T (n.43637-2A>T)
c.43634-2A>T (n.43634-2A>T)
c.40676-2A>T (n.40676-2A>T)
c.22292-2A>T (n.22292-2A>T)
c.43787-2A>T (n.43787-2A>T)
c.43784-2A>T (n.43784-2A>T)
c.43217-2A>T (n.43217-2A>T)
c.40559-2A>T (n.40559-2A>T)
c.40478-2A>T (n.40478-2A>T)
c.22241-2A>T (n.22241-2A>T)
c.12095-2A>T (n.12095-2A>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178613939T>CCA349605079TTN,TTN-AS1c.41642-2A>G (n.41642-2A>G)
c.22727-2A>G (n.22727-2A>G)
c.22526-2A>G (n.22526-2A>G)
c.22151-2A>G (n.22151-2A>G)
c.49346-2A>G (n.49346-2A>G)
c.44423-2A>G (n.44423-2A>G)
n.783-96T>C
c.48443-2A>G (n.48443-2A>G)
c.22337-2A>G (n.22337-2A>G)
c.22196-2A>G (n.22196-2A>G)
c.48239-2A>G (n.48239-2A>G)
c.43637-2A>G (n.43637-2A>G)
c.43634-2A>G (n.43634-2A>G)
c.40676-2A>G (n.40676-2A>G)
c.22292-2A>G (n.22292-2A>G)
c.43787-2A>G (n.43787-2A>G)
c.43784-2A>G (n.43784-2A>G)
c.43217-2A>G (n.43217-2A>G)
c.40559-2A>G (n.40559-2A>G)
c.40478-2A>G (n.40478-2A>G)
c.22241-2A>G (n.22241-2A>G)
c.12095-2A>G (n.12095-2A>G)
2g.178613939T>GCA349605078TTN,TTN-AS1c.41642-2A>C (n.41642-2A>C)
c.22727-2A>C (n.22727-2A>C)
c.22526-2A>C (n.22526-2A>C)
c.22151-2A>C (n.22151-2A>C)
c.49346-2A>C (n.49346-2A>C)
c.44423-2A>C (n.44423-2A>C)
n.783-96T>G
c.48443-2A>C (n.48443-2A>C)
c.22337-2A>C (n.22337-2A>C)
c.22196-2A>C (n.22196-2A>C)
c.48239-2A>C (n.48239-2A>C)
c.43637-2A>C (n.43637-2A>C)
c.43634-2A>C (n.43634-2A>C)
c.40676-2A>C (n.40676-2A>C)
c.22292-2A>C (n.22292-2A>C)
c.43787-2A>C (n.43787-2A>C)
c.43784-2A>C (n.43784-2A>C)
c.43217-2A>C (n.43217-2A>C)
c.40559-2A>C (n.40559-2A>C)
c.40478-2A>C (n.40478-2A>C)
c.22241-2A>C (n.22241-2A>C)
c.12095-2A>C (n.12095-2A>C)
2g.178613939T=CA1310549141TTN,TTN-AS1c.41642-2A= (n.41642-2A=)
c.22727-2A= (n.22727-2A=)
c.22526-2A= (n.22526-2A=)
c.22151-2A= (n.22151-2A=)
c.49346-2A= (n.49346-2A=)
c.44423-2A= (n.44423-2A=)
n.783-96T=
c.48443-2A= (n.48443-2A=)
c.22337-2A= (n.22337-2A=)
c.22196-2A= (n.22196-2A=)
c.48239-2A= (n.48239-2A=)
c.43637-2A= (n.43637-2A=)
c.43634-2A= (n.43634-2A=)
c.40676-2A= (n.40676-2A=)
c.22292-2A= (n.22292-2A=)
c.43787-2A= (n.43787-2A=)
c.43784-2A= (n.43784-2A=)
c.43217-2A= (n.43217-2A=)
c.40559-2A= (n.40559-2A=)
c.40478-2A= (n.40478-2A=)
c.22241-2A= (n.22241-2A=)
c.12095-2A= (n.12095-2A=)
2g.178613941_178613942dupCA2606717495TTN,TTN-AS1c.41642-3_41642-2dup (n.41642-3_41642-2dup)
c.22727-3_22727-2dup (n.22727-3_22727-2dup)
c.22526-3_22526-2dup (n.22526-3_22526-2dup)
c.22151-3_22151-2dup (n.22151-3_22151-2dup)
c.49346-3_49346-2dup (n.49346-3_49346-2dup)
c.44423-3_44423-2dup (n.44423-3_44423-2dup)
n.783-94_783-93dup
c.48443-3_48443-2dup (n.48443-3_48443-2dup)
c.22337-3_22337-2dup (n.22337-3_22337-2dup)
c.22196-3_22196-2dup (n.22196-3_22196-2dup)
c.48239-3_48239-2dup (n.48239-3_48239-2dup)
c.43637-3_43637-2dup (n.43637-3_43637-2dup)
c.43634-3_43634-2dup (n.43634-3_43634-2dup)
c.40676-3_40676-2dup (n.40676-3_40676-2dup)
c.22292-3_22292-2dup (n.22292-3_22292-2dup)
c.43787-3_43787-2dup (n.43787-3_43787-2dup)
c.43784-3_43784-2dup (n.43784-3_43784-2dup)
c.43217-3_43217-2dup (n.43217-3_43217-2dup)
c.40559-3_40559-2dup (n.40559-3_40559-2dup)
c.40478-3_40478-2dup (n.40478-3_40478-2dup)
c.22241-3_22241-2dup (n.22241-3_22241-2dup)
c.12095-3_12095-2dup (n.12095-3_12095-2dup)
 dbSNP gnomAD v3 gnomAD v4
2g.178613940A>CCA2753331438TTN,TTN-AS1c.41642-3T>G (n.41642-3T>G)
c.22727-3T>G (n.22727-3T>G)
c.22526-3T>G (n.22526-3T>G)
c.22151-3T>G (n.22151-3T>G)
c.49346-3T>G (n.49346-3T>G)
c.44423-3T>G (n.44423-3T>G)
n.783-95A>C
c.48443-3T>G (n.48443-3T>G)
c.22337-3T>G (n.22337-3T>G)
c.22196-3T>G (n.22196-3T>G)
c.48239-3T>G (n.48239-3T>G)
c.43637-3T>G (n.43637-3T>G)
c.43634-3T>G (n.43634-3T>G)
c.40676-3T>G (n.40676-3T>G)
c.22292-3T>G (n.22292-3T>G)
c.43787-3T>G (n.43787-3T>G)
c.43784-3T>G (n.43784-3T>G)
c.43217-3T>G (n.43217-3T>G)
c.40559-3T>G (n.40559-3T>G)
c.40478-3T>G (n.40478-3T>G)
c.22241-3T>G (n.22241-3T>G)
c.12095-3T>G (n.12095-3T>G)
2g.178613941T>ACA2662133268TTN,TTN-AS1c.41642-4A>T (n.41642-4A>T)
c.22727-4A>T (n.22727-4A>T)
c.22526-4A>T (n.22526-4A>T)
c.22151-4A>T (n.22151-4A>T)
c.49346-4A>T (n.49346-4A>T)
c.44423-4A>T (n.44423-4A>T)
n.783-94T>A
c.48443-4A>T (n.48443-4A>T)
c.22337-4A>T (n.22337-4A>T)
c.22196-4A>T (n.22196-4A>T)
c.48239-4A>T (n.48239-4A>T)
c.43637-4A>T (n.43637-4A>T)
c.43634-4A>T (n.43634-4A>T)
c.40676-4A>T (n.40676-4A>T)
c.22292-4A>T (n.22292-4A>T)
c.43787-4A>T (n.43787-4A>T)
c.43784-4A>T (n.43784-4A>T)
c.43217-4A>T (n.43217-4A>T)
c.40559-4A>T (n.40559-4A>T)
c.40478-4A>T (n.40478-4A>T)
c.22241-4A>T (n.22241-4A>T)
c.12095-4A>T (n.12095-4A>T)
 gnomAD v4
2g.178613941T>CCA538435813TTN,TTN-AS1c.41642-4A>G (n.41642-4A>G)
c.22727-4A>G (n.22727-4A>G)
c.22526-4A>G (n.22526-4A>G)
c.22151-4A>G (n.22151-4A>G)
c.49346-4A>G (n.49346-4A>G)
c.44423-4A>G (n.44423-4A>G)
n.783-94T>C
c.48443-4A>G (n.48443-4A>G)
c.22337-4A>G (n.22337-4A>G)
c.22196-4A>G (n.22196-4A>G)
c.48239-4A>G (n.48239-4A>G)
c.43637-4A>G (n.43637-4A>G)
c.43634-4A>G (n.43634-4A>G)
c.40676-4A>G (n.40676-4A>G)
c.22292-4A>G (n.22292-4A>G)
c.43787-4A>G (n.43787-4A>G)
c.43784-4A>G (n.43784-4A>G)
c.43217-4A>G (n.43217-4A>G)
c.40559-4A>G (n.40559-4A>G)
c.40478-4A>G (n.40478-4A>G)
c.22241-4A>G (n.22241-4A>G)
c.12095-4A>G (n.12095-4A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178613941T=CA1310549142TTN,TTN-AS1c.41642-4A= (n.41642-4A=)
c.22727-4A= (n.22727-4A=)
c.22526-4A= (n.22526-4A=)
c.22151-4A= (n.22151-4A=)
c.49346-4A= (n.49346-4A=)
c.44423-4A= (n.44423-4A=)
n.783-94T=
c.48443-4A= (n.48443-4A=)
c.22337-4A= (n.22337-4A=)
c.22196-4A= (n.22196-4A=)
c.48239-4A= (n.48239-4A=)
c.43637-4A= (n.43637-4A=)
c.43634-4A= (n.43634-4A=)
c.40676-4A= (n.40676-4A=)
c.22292-4A= (n.22292-4A=)
c.43787-4A= (n.43787-4A=)
c.43784-4A= (n.43784-4A=)
c.43217-4A= (n.43217-4A=)
c.40559-4A= (n.40559-4A=)
c.40478-4A= (n.40478-4A=)
c.22241-4A= (n.22241-4A=)
c.12095-4A= (n.12095-4A=)
2g.178613945C>GCA2662133270TTN,TTN-AS1c.41642-8G>C (n.41642-8G>C)
c.22727-8G>C (n.22727-8G>C)
c.22526-8G>C (n.22526-8G>C)
c.22151-8G>C (n.22151-8G>C)
c.49346-8G>C (n.49346-8G>C)
c.44423-8G>C (n.44423-8G>C)
n.783-90C>G
c.48443-8G>C (n.48443-8G>C)
c.22337-8G>C (n.22337-8G>C)
c.22196-8G>C (n.22196-8G>C)
c.48239-8G>C (n.48239-8G>C)
c.43637-8G>C (n.43637-8G>C)
c.43634-8G>C (n.43634-8G>C)
c.40676-8G>C (n.40676-8G>C)
c.22292-8G>C (n.22292-8G>C)
c.43787-8G>C (n.43787-8G>C)
c.43784-8G>C (n.43784-8G>C)
c.43217-8G>C (n.43217-8G>C)
c.40559-8G>C (n.40559-8G>C)
c.40478-8G>C (n.40478-8G>C)
c.22241-8G>C (n.22241-8G>C)
c.12095-8G>C (n.12095-8G>C)
 gnomAD v4
2g.178613945C>TCA2662133269TTN,TTN-AS1c.41642-8G>A (n.41642-8G>A)
c.22727-8G>A (n.22727-8G>A)
c.22526-8G>A (n.22526-8G>A)
c.22151-8G>A (n.22151-8G>A)
c.49346-8G>A (n.49346-8G>A)
c.44423-8G>A (n.44423-8G>A)
n.783-90C>T
c.48443-8G>A (n.48443-8G>A)
c.22337-8G>A (n.22337-8G>A)
c.22196-8G>A (n.22196-8G>A)
c.48239-8G>A (n.48239-8G>A)
c.43637-8G>A (n.43637-8G>A)
c.43634-8G>A (n.43634-8G>A)
c.40676-8G>A (n.40676-8G>A)
c.22292-8G>A (n.22292-8G>A)
c.43787-8G>A (n.43787-8G>A)
c.43784-8G>A (n.43784-8G>A)
c.43217-8G>A (n.43217-8G>A)
c.40559-8G>A (n.40559-8G>A)
c.40478-8G>A (n.40478-8G>A)
c.22241-8G>A (n.22241-8G>A)
c.12095-8G>A (n.12095-8G>A)
 gnomAD v4
2g.178613947G>ACA2499215432TTN,TTN-AS1c.41642-10C>T (n.41642-10C>T)
c.22727-10C>T (n.22727-10C>T)
c.22526-10C>T (n.22526-10C>T)
c.22151-10C>T (n.22151-10C>T)
c.49346-10C>T (n.49346-10C>T)
c.44423-10C>T (n.44423-10C>T)
n.783-88G>A
c.48443-10C>T (n.48443-10C>T)
c.22337-10C>T (n.22337-10C>T)
c.22196-10C>T (n.22196-10C>T)
c.48239-10C>T (n.48239-10C>T)
c.43637-10C>T (n.43637-10C>T)
c.43634-10C>T (n.43634-10C>T)
c.40676-10C>T (n.40676-10C>T)
c.22292-10C>T (n.22292-10C>T)
c.43787-10C>T (n.43787-10C>T)
c.43784-10C>T (n.43784-10C>T)
c.43217-10C>T (n.43217-10C>T)
c.40559-10C>T (n.40559-10C>T)
c.40478-10C>T (n.40478-10C>T)
c.22241-10C>T (n.22241-10C>T)
c.12095-10C>T (n.12095-10C>T)
 ClinVar dbSNP gnomAD v4
2g.178613948G>ACA1994615TTN,TTN-AS1c.41642-11C>T (n.41642-11C>T)
c.22727-11C>T (n.22727-11C>T)
c.22526-11C>T (n.22526-11C>T)
c.22151-11C>T (n.22151-11C>T)
c.49346-11C>T (n.49346-11C>T)
c.44423-11C>T (n.44423-11C>T)
n.783-87G>A
c.48443-11C>T (n.48443-11C>T)
c.22337-11C>T (n.22337-11C>T)
c.22196-11C>T (n.22196-11C>T)
c.48239-11C>T (n.48239-11C>T)
c.43637-11C>T (n.43637-11C>T)
c.43634-11C>T (n.43634-11C>T)
c.40676-11C>T (n.40676-11C>T)
c.22292-11C>T (n.22292-11C>T)
c.43787-11C>T (n.43787-11C>T)
c.43784-11C>T (n.43784-11C>T)
c.43217-11C>T (n.43217-11C>T)
c.40559-11C>T (n.40559-11C>T)
c.40478-11C>T (n.40478-11C>T)
c.22241-11C>T (n.22241-11C>T)
c.12095-11C>T (n.12095-11C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178613948G>CCA2580064978TTN,TTN-AS1c.41642-11C>G (n.41642-11C>G)
c.22727-11C>G (n.22727-11C>G)
c.22526-11C>G (n.22526-11C>G)
c.22151-11C>G (n.22151-11C>G)
c.49346-11C>G (n.49346-11C>G)
c.44423-11C>G (n.44423-11C>G)
n.783-87G>C
c.48443-11C>G (n.48443-11C>G)
c.22337-11C>G (n.22337-11C>G)
c.22196-11C>G (n.22196-11C>G)
c.48239-11C>G (n.48239-11C>G)
c.43637-11C>G (n.43637-11C>G)
c.43634-11C>G (n.43634-11C>G)
c.40676-11C>G (n.40676-11C>G)
c.22292-11C>G (n.22292-11C>G)
c.43787-11C>G (n.43787-11C>G)
c.43784-11C>G (n.43784-11C>G)
c.43217-11C>G (n.43217-11C>G)
c.40559-11C>G (n.40559-11C>G)
c.40478-11C>G (n.40478-11C>G)
c.22241-11C>G (n.22241-11C>G)
c.12095-11C>G (n.12095-11C>G)
 ClinVar
2g.178613948G=CA1310549143TTN,TTN-AS1c.41642-11C= (n.41642-11C=)
c.22727-11C= (n.22727-11C=)
c.22526-11C= (n.22526-11C=)
c.22151-11C= (n.22151-11C=)
c.49346-11C= (n.49346-11C=)
c.44423-11C= (n.44423-11C=)
n.783-87G=
c.48443-11C= (n.48443-11C=)
c.22337-11C= (n.22337-11C=)
c.22196-11C= (n.22196-11C=)
c.48239-11C= (n.48239-11C=)
c.43637-11C= (n.43637-11C=)
c.43634-11C= (n.43634-11C=)
c.40676-11C= (n.40676-11C=)
c.22292-11C= (n.22292-11C=)
c.43787-11C= (n.43787-11C=)
c.43784-11C= (n.43784-11C=)
c.43217-11C= (n.43217-11C=)
c.40559-11C= (n.40559-11C=)
c.40478-11C= (n.40478-11C=)
c.22241-11C= (n.22241-11C=)
c.12095-11C= (n.12095-11C=)
2g.178613951_178613953delCA2533111184TTN,TTN-AS1c.41642-14_41642-12del (n.41642-14_41642-12del)
c.22727-14_22727-12del (n.22727-14_22727-12del)
c.22526-14_22526-12del (n.22526-14_22526-12del)
c.22151-14_22151-12del (n.22151-14_22151-12del)
c.49346-14_49346-12del (n.49346-14_49346-12del)
c.44423-14_44423-12del (n.44423-14_44423-12del)
n.783-84_783-82del
c.48443-14_48443-12del (n.48443-14_48443-12del)
c.22337-14_22337-12del (n.22337-14_22337-12del)
c.22196-14_22196-12del (n.22196-14_22196-12del)
c.48239-14_48239-12del (n.48239-14_48239-12del)
c.43637-14_43637-12del (n.43637-14_43637-12del)
c.43634-14_43634-12del (n.43634-14_43634-12del)
c.40676-14_40676-12del (n.40676-14_40676-12del)
c.22292-14_22292-12del (n.22292-14_22292-12del)
c.43787-14_43787-12del (n.43787-14_43787-12del)
c.43784-14_43784-12del (n.43784-14_43784-12del)
c.43217-14_43217-12del (n.43217-14_43217-12del)
c.40559-14_40559-12del (n.40559-14_40559-12del)
c.40478-14_40478-12del (n.40478-14_40478-12del)
c.22241-14_22241-12del (n.22241-14_22241-12del)
c.12095-14_12095-12del (n.12095-14_12095-12del)
2g.178613954G>ACA2701300331TTN,TTN-AS1c.41642-17C>T (n.41642-17C>T)
c.22727-17C>T (n.22727-17C>T)
c.22526-17C>T (n.22526-17C>T)
c.22151-17C>T (n.22151-17C>T)
c.49346-17C>T (n.49346-17C>T)
c.44423-17C>T (n.44423-17C>T)
n.783-81G>A
c.48443-17C>T (n.48443-17C>T)
c.22337-17C>T (n.22337-17C>T)
c.22196-17C>T (n.22196-17C>T)
c.48239-17C>T (n.48239-17C>T)
c.43637-17C>T (n.43637-17C>T)
c.43634-17C>T (n.43634-17C>T)
c.40676-17C>T (n.40676-17C>T)
c.22292-17C>T (n.22292-17C>T)
c.43787-17C>T (n.43787-17C>T)
c.43784-17C>T (n.43784-17C>T)
c.43217-17C>T (n.43217-17C>T)
c.40559-17C>T (n.40559-17C>T)
c.40478-17C>T (n.40478-17C>T)
c.22241-17C>T (n.22241-17C>T)
c.12095-17C>T (n.12095-17C>T)
 dbSNP
2g.178613955G>ACA1994616TTN,TTN-AS1c.41642-18C>T (n.41642-18C>T)
c.22727-18C>T (n.22727-18C>T)
c.22526-18C>T (n.22526-18C>T)
c.22151-18C>T (n.22151-18C>T)
c.49346-18C>T (n.49346-18C>T)
c.44423-18C>T (n.44423-18C>T)
n.783-80G>A
c.48443-18C>T (n.48443-18C>T)
c.22337-18C>T (n.22337-18C>T)
c.22196-18C>T (n.22196-18C>T)
c.48239-18C>T (n.48239-18C>T)
c.43637-18C>T (n.43637-18C>T)
c.43634-18C>T (n.43634-18C>T)
c.40676-18C>T (n.40676-18C>T)
c.22292-18C>T (n.22292-18C>T)
c.43787-18C>T (n.43787-18C>T)
c.43784-18C>T (n.43784-18C>T)
c.43217-18C>T (n.43217-18C>T)
c.40559-18C>T (n.40559-18C>T)
c.40478-18C>T (n.40478-18C>T)
c.22241-18C>T (n.22241-18C>T)
c.12095-18C>T (n.12095-18C>T)
 dbSNP ExAC gnomAD v2
2g.178613955G=CA1310549144TTN,TTN-AS1c.41642-18C= (n.41642-18C=)
c.22727-18C= (n.22727-18C=)
c.22526-18C= (n.22526-18C=)
c.22151-18C= (n.22151-18C=)
c.49346-18C= (n.49346-18C=)
c.44423-18C= (n.44423-18C=)
n.783-80G=
c.48443-18C= (n.48443-18C=)
c.22337-18C= (n.22337-18C=)
c.22196-18C= (n.22196-18C=)
c.48239-18C= (n.48239-18C=)
c.43637-18C= (n.43637-18C=)
c.43634-18C= (n.43634-18C=)
c.40676-18C= (n.40676-18C=)
c.22292-18C= (n.22292-18C=)
c.43787-18C= (n.43787-18C=)
c.43784-18C= (n.43784-18C=)
c.43217-18C= (n.43217-18C=)
c.40559-18C= (n.40559-18C=)
c.40478-18C= (n.40478-18C=)
c.22241-18C= (n.22241-18C=)
c.12095-18C= (n.12095-18C=)
2g.178613955G>TCA538435814TTN,TTN-AS1c.41642-18C>A (n.41642-18C>A)
c.22727-18C>A (n.22727-18C>A)
c.22526-18C>A (n.22526-18C>A)
c.22151-18C>A (n.22151-18C>A)
c.49346-18C>A (n.49346-18C>A)
c.44423-18C>A (n.44423-18C>A)
n.783-80G>T
c.48443-18C>A (n.48443-18C>A)
c.22337-18C>A (n.22337-18C>A)
c.22196-18C>A (n.22196-18C>A)
c.48239-18C>A (n.48239-18C>A)
c.43637-18C>A (n.43637-18C>A)
c.43634-18C>A (n.43634-18C>A)
c.40676-18C>A (n.40676-18C>A)
c.22292-18C>A (n.22292-18C>A)
c.43787-18C>A (n.43787-18C>A)
c.43784-18C>A (n.43784-18C>A)
c.43217-18C>A (n.43217-18C>A)
c.40559-18C>A (n.40559-18C>A)
c.40478-18C>A (n.40478-18C>A)
c.22241-18C>A (n.22241-18C>A)
c.12095-18C>A (n.12095-18C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178613956T>GCA2577171147TTN,TTN-AS1c.41642-19A>C (n.41642-19A>C)
c.22727-19A>C (n.22727-19A>C)
c.22526-19A>C (n.22526-19A>C)
c.22151-19A>C (n.22151-19A>C)
c.49346-19A>C (n.49346-19A>C)
c.44423-19A>C (n.44423-19A>C)
n.783-79T>G
c.48443-19A>C (n.48443-19A>C)
c.22337-19A>C (n.22337-19A>C)
c.22196-19A>C (n.22196-19A>C)
c.48239-19A>C (n.48239-19A>C)
c.43637-19A>C (n.43637-19A>C)
c.43634-19A>C (n.43634-19A>C)
c.40676-19A>C (n.40676-19A>C)
c.22292-19A>C (n.22292-19A>C)
c.43787-19A>C (n.43787-19A>C)
c.43784-19A>C (n.43784-19A>C)
c.43217-19A>C (n.43217-19A>C)
c.40559-19A>C (n.40559-19A>C)
c.40478-19A>C (n.40478-19A>C)
c.22241-19A>C (n.22241-19A>C)
c.12095-19A>C (n.12095-19A>C)
 dbSNP gnomAD v4
2g.178613957G>ACA538435815TTN,TTN-AS1c.41642-20C>T (n.41642-20C>T)
c.22727-20C>T (n.22727-20C>T)
c.22526-20C>T (n.22526-20C>T)
c.22151-20C>T (n.22151-20C>T)
c.49346-20C>T (n.49346-20C>T)
c.44423-20C>T (n.44423-20C>T)
n.783-78G>A
c.48443-20C>T (n.48443-20C>T)
c.22337-20C>T (n.22337-20C>T)
c.22196-20C>T (n.22196-20C>T)
c.48239-20C>T (n.48239-20C>T)
c.43637-20C>T (n.43637-20C>T)
c.43634-20C>T (n.43634-20C>T)
c.40676-20C>T (n.40676-20C>T)
c.22292-20C>T (n.22292-20C>T)
c.43787-20C>T (n.43787-20C>T)
c.43784-20C>T (n.43784-20C>T)
c.43217-20C>T (n.43217-20C>T)
c.40559-20C>T (n.40559-20C>T)
c.40478-20C>T (n.40478-20C>T)
c.22241-20C>T (n.22241-20C>T)
c.12095-20C>T (n.12095-20C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178613957G>CCA1310549146TTN,TTN-AS1c.41642-20C>G (n.41642-20C>G)
c.22727-20C>G (n.22727-20C>G)
c.22526-20C>G (n.22526-20C>G)
c.22151-20C>G (n.22151-20C>G)
c.49346-20C>G (n.49346-20C>G)
c.44423-20C>G (n.44423-20C>G)
n.783-78G>C
c.48443-20C>G (n.48443-20C>G)
c.22337-20C>G (n.22337-20C>G)
c.22196-20C>G (n.22196-20C>G)
c.48239-20C>G (n.48239-20C>G)
c.43637-20C>G (n.43637-20C>G)
c.43634-20C>G (n.43634-20C>G)
c.40676-20C>G (n.40676-20C>G)
c.22292-20C>G (n.22292-20C>G)
c.43787-20C>G (n.43787-20C>G)
c.43784-20C>G (n.43784-20C>G)
c.43217-20C>G (n.43217-20C>G)
c.40559-20C>G (n.40559-20C>G)
c.40478-20C>G (n.40478-20C>G)
c.22241-20C>G (n.22241-20C>G)
c.12095-20C>G (n.12095-20C>G)
 dbSNP gnomAD v4
2g.178613957G=CA1310549145TTN,TTN-AS1c.41642-20C= (n.41642-20C=)
c.22727-20C= (n.22727-20C=)
c.22526-20C= (n.22526-20C=)
c.22151-20C= (n.22151-20C=)
c.49346-20C= (n.49346-20C=)
c.44423-20C= (n.44423-20C=)
n.783-78G=
c.48443-20C= (n.48443-20C=)
c.22337-20C= (n.22337-20C=)
c.22196-20C= (n.22196-20C=)
c.48239-20C= (n.48239-20C=)
c.43637-20C= (n.43637-20C=)
c.43634-20C= (n.43634-20C=)
c.40676-20C= (n.40676-20C=)
c.22292-20C= (n.22292-20C=)
c.43787-20C= (n.43787-20C=)
c.43784-20C= (n.43784-20C=)
c.43217-20C= (n.43217-20C=)
c.40559-20C= (n.40559-20C=)
c.40478-20C= (n.40478-20C=)
c.22241-20C= (n.22241-20C=)
c.12095-20C= (n.12095-20C=)
2g.178613958T>CCA1310549148TTN,TTN-AS1c.41642-21A>G (n.41642-21A>G)
c.22727-21A>G (n.22727-21A>G)
c.22526-21A>G (n.22526-21A>G)
c.22151-21A>G (n.22151-21A>G)
c.49346-21A>G (n.49346-21A>G)
c.44423-21A>G (n.44423-21A>G)
n.783-77T>C
c.48443-21A>G (n.48443-21A>G)
c.22337-21A>G (n.22337-21A>G)
c.22196-21A>G (n.22196-21A>G)
c.48239-21A>G (n.48239-21A>G)
c.43637-21A>G (n.43637-21A>G)
c.43634-21A>G (n.43634-21A>G)
c.40676-21A>G (n.40676-21A>G)
c.22292-21A>G (n.22292-21A>G)
c.43787-21A>G (n.43787-21A>G)
c.43784-21A>G (n.43784-21A>G)
c.43217-21A>G (n.43217-21A>G)
c.40559-21A>G (n.40559-21A>G)
c.40478-21A>G (n.40478-21A>G)
c.22241-21A>G (n.22241-21A>G)
c.12095-21A>G (n.12095-21A>G)
 dbSNP
2g.178613958T=CA1310549147TTN,TTN-AS1c.41642-21A= (n.41642-21A=)
c.22727-21A= (n.22727-21A=)
c.22526-21A= (n.22526-21A=)
c.22151-21A= (n.22151-21A=)
c.49346-21A= (n.49346-21A=)
c.44423-21A= (n.44423-21A=)
n.783-77T=
c.48443-21A= (n.48443-21A=)
c.22337-21A= (n.22337-21A=)
c.22196-21A= (n.22196-21A=)
c.48239-21A= (n.48239-21A=)
c.43637-21A= (n.43637-21A=)
c.43634-21A= (n.43634-21A=)
c.40676-21A= (n.40676-21A=)
c.22292-21A= (n.22292-21A=)
c.43787-21A= (n.43787-21A=)
c.43784-21A= (n.43784-21A=)
c.43217-21A= (n.43217-21A=)
c.40559-21A= (n.40559-21A=)
c.40478-21A= (n.40478-21A=)
c.22241-21A= (n.22241-21A=)
c.12095-21A= (n.12095-21A=)
2g.178613959A=CA1310549149TTN,TTN-AS1c.41642-22T= (n.41642-22T=)
c.22727-22T= (n.22727-22T=)
c.22526-22T= (n.22526-22T=)
c.22151-22T= (n.22151-22T=)
c.49346-22T= (n.49346-22T=)
c.44423-22T= (n.44423-22T=)
n.783-76A=
c.48443-22T= (n.48443-22T=)
c.22337-22T= (n.22337-22T=)
c.22196-22T= (n.22196-22T=)
c.48239-22T= (n.48239-22T=)
c.43637-22T= (n.43637-22T=)
c.43634-22T= (n.43634-22T=)
c.40676-22T= (n.40676-22T=)
c.22292-22T= (n.22292-22T=)
c.43787-22T= (n.43787-22T=)
c.43784-22T= (n.43784-22T=)
c.43217-22T= (n.43217-22T=)
c.40559-22T= (n.40559-22T=)
c.40478-22T= (n.40478-22T=)
c.22241-22T= (n.22241-22T=)
c.12095-22T= (n.12095-22T=)
2g.178613959A>GCA1994617TTN,TTN-AS1c.41642-22T>C (n.41642-22T>C)
c.22727-22T>C (n.22727-22T>C)
c.22526-22T>C (n.22526-22T>C)
c.22151-22T>C (n.22151-22T>C)
c.49346-22T>C (n.49346-22T>C)
c.44423-22T>C (n.44423-22T>C)
n.783-76A>G
c.48443-22T>C (n.48443-22T>C)
c.22337-22T>C (n.22337-22T>C)
c.22196-22T>C (n.22196-22T>C)
c.48239-22T>C (n.48239-22T>C)
c.43637-22T>C (n.43637-22T>C)
c.43634-22T>C (n.43634-22T>C)
c.40676-22T>C (n.40676-22T>C)
c.22292-22T>C (n.22292-22T>C)
c.43787-22T>C (n.43787-22T>C)
c.43784-22T>C (n.43784-22T>C)
c.43217-22T>C (n.43217-22T>C)
c.40559-22T>C (n.40559-22T>C)
c.40478-22T>C (n.40478-22T>C)
c.22241-22T>C (n.22241-22T>C)
c.12095-22T>C (n.12095-22T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178613962delCA2662133271TTN,TTN-AS1c.41642-22del (n.41642-22del)
c.22727-22del (n.22727-22del)
c.22526-22del (n.22526-22del)
c.22151-22del (n.22151-22del)
c.49346-22del (n.49346-22del)
c.44423-22del (n.44423-22del)
n.783-73del
c.48443-22del (n.48443-22del)
c.22337-22del (n.22337-22del)
c.22196-22del (n.22196-22del)
c.48239-22del (n.48239-22del)
c.43637-22del (n.43637-22del)
c.43634-22del (n.43634-22del)
c.40676-22del (n.40676-22del)
c.22292-22del (n.22292-22del)
c.43787-22del (n.43787-22del)
c.43784-22del (n.43784-22del)
c.43217-22del (n.43217-22del)
c.40559-22del (n.40559-22del)
c.40478-22del (n.40478-22del)
c.22241-22del (n.22241-22del)
c.12095-22del (n.12095-22del)
 gnomAD v4
2g.178613960A>GCA2662133272TTN,TTN-AS1c.41642-23T>C (n.41642-23T>C)
c.22727-23T>C (n.22727-23T>C)
c.22526-23T>C (n.22526-23T>C)
c.22151-23T>C (n.22151-23T>C)
c.49346-23T>C (n.49346-23T>C)
c.44423-23T>C (n.44423-23T>C)
n.783-75A>G
c.48443-23T>C (n.48443-23T>C)
c.22337-23T>C (n.22337-23T>C)
c.22196-23T>C (n.22196-23T>C)
c.48239-23T>C (n.48239-23T>C)
c.43637-23T>C (n.43637-23T>C)
c.43634-23T>C (n.43634-23T>C)
c.40676-23T>C (n.40676-23T>C)
c.22292-23T>C (n.22292-23T>C)
c.43787-23T>C (n.43787-23T>C)
c.43784-23T>C (n.43784-23T>C)
c.43217-23T>C (n.43217-23T>C)
c.40559-23T>C (n.40559-23T>C)
c.40478-23T>C (n.40478-23T>C)
c.22241-23T>C (n.22241-23T>C)
c.12095-23T>C (n.12095-23T>C)
 gnomAD v4
2g.178613967A=CA1310549150TTN,TTN-AS1c.41642-30T= (n.41642-30T=)
c.22727-30T= (n.22727-30T=)
c.22526-30T= (n.22526-30T=)
c.22151-30T= (n.22151-30T=)
c.49346-30T= (n.49346-30T=)
c.44423-30T= (n.44423-30T=)
n.783-68A=
c.48443-30T= (n.48443-30T=)
c.22337-30T= (n.22337-30T=)
c.22196-30T= (n.22196-30T=)
c.48239-30T= (n.48239-30T=)
c.43637-30T= (n.43637-30T=)
c.43634-30T= (n.43634-30T=)
c.40676-30T= (n.40676-30T=)
c.22292-30T= (n.22292-30T=)
c.43787-30T= (n.43787-30T=)
c.43784-30T= (n.43784-30T=)
c.43217-30T= (n.43217-30T=)
c.40559-30T= (n.40559-30T=)
c.40478-30T= (n.40478-30T=)
c.22241-30T= (n.22241-30T=)
c.12095-30T= (n.12095-30T=)
2g.178613967A>GCA1994618TTN,TTN-AS1c.41642-30T>C (n.41642-30T>C)
c.22727-30T>C (n.22727-30T>C)
c.22526-30T>C (n.22526-30T>C)
c.22151-30T>C (n.22151-30T>C)
c.49346-30T>C (n.49346-30T>C)
c.44423-30T>C (n.44423-30T>C)
n.783-68A>G
c.48443-30T>C (n.48443-30T>C)
c.22337-30T>C (n.22337-30T>C)
c.22196-30T>C (n.22196-30T>C)
c.48239-30T>C (n.48239-30T>C)
c.43637-30T>C (n.43637-30T>C)
c.43634-30T>C (n.43634-30T>C)
c.40676-30T>C (n.40676-30T>C)
c.22292-30T>C (n.22292-30T>C)
c.43787-30T>C (n.43787-30T>C)
c.43784-30T>C (n.43784-30T>C)
c.43217-30T>C (n.43217-30T>C)
c.40559-30T>C (n.40559-30T>C)
c.40478-30T>C (n.40478-30T>C)
c.22241-30T>C (n.22241-30T>C)
c.12095-30T>C (n.12095-30T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178613968T>ACA761292223TTN,TTN-AS1c.41642-31A>T (n.41642-31A>T)
c.22727-31A>T (n.22727-31A>T)
c.22526-31A>T (n.22526-31A>T)
c.22151-31A>T (n.22151-31A>T)
c.49346-31A>T (n.49346-31A>T)
c.44423-31A>T (n.44423-31A>T)
n.783-67T>A
c.48443-31A>T (n.48443-31A>T)
c.22337-31A>T (n.22337-31A>T)
c.22196-31A>T (n.22196-31A>T)
c.48239-31A>T (n.48239-31A>T)
c.43637-31A>T (n.43637-31A>T)
c.43634-31A>T (n.43634-31A>T)
c.40676-31A>T (n.40676-31A>T)
c.22292-31A>T (n.22292-31A>T)
c.43787-31A>T (n.43787-31A>T)
c.43784-31A>T (n.43784-31A>T)
c.43217-31A>T (n.43217-31A>T)
c.40559-31A>T (n.40559-31A>T)
c.40478-31A>T (n.40478-31A>T)
c.22241-31A>T (n.22241-31A>T)
c.12095-31A>T (n.12095-31A>T)
 dbSNP gnomAD v3 gnomAD v4
2g.178613968T>CCA1310549152TTN,TTN-AS1c.41642-31A>G (n.41642-31A>G)
c.22727-31A>G (n.22727-31A>G)
c.22526-31A>G (n.22526-31A>G)
c.22151-31A>G (n.22151-31A>G)
c.49346-31A>G (n.49346-31A>G)
c.44423-31A>G (n.44423-31A>G)
n.783-67T>C
c.48443-31A>G (n.48443-31A>G)
c.22337-31A>G (n.22337-31A>G)
c.22196-31A>G (n.22196-31A>G)
c.48239-31A>G (n.48239-31A>G)
c.43637-31A>G (n.43637-31A>G)
c.43634-31A>G (n.43634-31A>G)
c.40676-31A>G (n.40676-31A>G)
c.22292-31A>G (n.22292-31A>G)
c.43787-31A>G (n.43787-31A>G)
c.43784-31A>G (n.43784-31A>G)
c.43217-31A>G (n.43217-31A>G)
c.40559-31A>G (n.40559-31A>G)
c.40478-31A>G (n.40478-31A>G)
c.22241-31A>G (n.22241-31A>G)
c.12095-31A>G (n.12095-31A>G)
 dbSNP gnomAD v4
2g.178613968T=CA1310549151TTN,TTN-AS1c.41642-31A= (n.41642-31A=)
c.22727-31A= (n.22727-31A=)
c.22526-31A= (n.22526-31A=)
c.22151-31A= (n.22151-31A=)
c.49346-31A= (n.49346-31A=)
c.44423-31A= (n.44423-31A=)
n.783-67T=
c.48443-31A= (n.48443-31A=)
c.22337-31A= (n.22337-31A=)
c.22196-31A= (n.22196-31A=)
c.48239-31A= (n.48239-31A=)
c.43637-31A= (n.43637-31A=)
c.43634-31A= (n.43634-31A=)
c.40676-31A= (n.40676-31A=)
c.22292-31A= (n.22292-31A=)
c.43787-31A= (n.43787-31A=)
c.43784-31A= (n.43784-31A=)
c.43217-31A= (n.43217-31A=)
c.40559-31A= (n.40559-31A=)
c.40478-31A= (n.40478-31A=)
c.22241-31A= (n.22241-31A=)
c.12095-31A= (n.12095-31A=)
2g.178613969A=CA1310549153TTN,TTN-AS1c.41642-32T= (n.41642-32T=)
c.22727-32T= (n.22727-32T=)
c.22526-32T= (n.22526-32T=)
c.22151-32T= (n.22151-32T=)
c.49346-32T= (n.49346-32T=)
c.44423-32T= (n.44423-32T=)
n.783-66A=
c.48443-32T= (n.48443-32T=)
c.22337-32T= (n.22337-32T=)
c.22196-32T= (n.22196-32T=)
c.48239-32T= (n.48239-32T=)
c.43637-32T= (n.43637-32T=)
c.43634-32T= (n.43634-32T=)
c.40676-32T= (n.40676-32T=)
c.22292-32T= (n.22292-32T=)
c.43787-32T= (n.43787-32T=)
c.43784-32T= (n.43784-32T=)
c.43217-32T= (n.43217-32T=)
c.40559-32T= (n.40559-32T=)
c.40478-32T= (n.40478-32T=)
c.22241-32T= (n.22241-32T=)
c.12095-32T= (n.12095-32T=)
2g.178613969A>GCA761292224TTN,TTN-AS1c.41642-32T>C (n.41642-32T>C)
c.22727-32T>C (n.22727-32T>C)
c.22526-32T>C (n.22526-32T>C)
c.22151-32T>C (n.22151-32T>C)
c.49346-32T>C (n.49346-32T>C)
c.44423-32T>C (n.44423-32T>C)
n.783-66A>G
c.48443-32T>C (n.48443-32T>C)
c.22337-32T>C (n.22337-32T>C)
c.22196-32T>C (n.22196-32T>C)
c.48239-32T>C (n.48239-32T>C)
c.43637-32T>C (n.43637-32T>C)
c.43634-32T>C (n.43634-32T>C)
c.40676-32T>C (n.40676-32T>C)
c.22292-32T>C (n.22292-32T>C)
c.43787-32T>C (n.43787-32T>C)
c.43784-32T>C (n.43784-32T>C)
c.43217-32T>C (n.43217-32T>C)
c.40559-32T>C (n.40559-32T>C)
c.40478-32T>C (n.40478-32T>C)
c.22241-32T>C (n.22241-32T>C)
c.12095-32T>C (n.12095-32T>C)
 dbSNP gnomAD v4
2g.178613970T>CCA1994619TTN,TTN-AS1c.41642-33A>G (n.41642-33A>G)
c.22727-33A>G (n.22727-33A>G)
c.22526-33A>G (n.22526-33A>G)
c.22151-33A>G (n.22151-33A>G)
c.49346-33A>G (n.49346-33A>G)
c.44423-33A>G (n.44423-33A>G)
n.783-65T>C
c.48443-33A>G (n.48443-33A>G)
c.22337-33A>G (n.22337-33A>G)
c.22196-33A>G (n.22196-33A>G)
c.48239-33A>G (n.48239-33A>G)
c.43637-33A>G (n.43637-33A>G)
c.43634-33A>G (n.43634-33A>G)
c.40676-33A>G (n.40676-33A>G)
c.22292-33A>G (n.22292-33A>G)
c.43787-33A>G (n.43787-33A>G)
c.43784-33A>G (n.43784-33A>G)
c.43217-33A>G (n.43217-33A>G)
c.40559-33A>G (n.40559-33A>G)
c.40478-33A>G (n.40478-33A>G)
c.22241-33A>G (n.22241-33A>G)
c.12095-33A>G (n.12095-33A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178613970T=CA1310549154TTN,TTN-AS1c.41642-33A= (n.41642-33A=)
c.22727-33A= (n.22727-33A=)
c.22526-33A= (n.22526-33A=)
c.22151-33A= (n.22151-33A=)
c.49346-33A= (n.49346-33A=)
c.44423-33A= (n.44423-33A=)
n.783-65T=
c.48443-33A= (n.48443-33A=)
c.22337-33A= (n.22337-33A=)
c.22196-33A= (n.22196-33A=)
c.48239-33A= (n.48239-33A=)
c.43637-33A= (n.43637-33A=)
c.43634-33A= (n.43634-33A=)
c.40676-33A= (n.40676-33A=)
c.22292-33A= (n.22292-33A=)
c.43787-33A= (n.43787-33A=)
c.43784-33A= (n.43784-33A=)
c.43217-33A= (n.43217-33A=)
c.40559-33A= (n.40559-33A=)
c.40478-33A= (n.40478-33A=)
c.22241-33A= (n.22241-33A=)
c.12095-33A= (n.12095-33A=)
2g.178613971G>ACA2662133273TTN,TTN-AS1c.41642-34C>T (n.41642-34C>T)
c.22727-34C>T (n.22727-34C>T)
c.22526-34C>T (n.22526-34C>T)
c.22151-34C>T (n.22151-34C>T)
c.49346-34C>T (n.49346-34C>T)
c.44423-34C>T (n.44423-34C>T)
n.783-64G>A
c.48443-34C>T (n.48443-34C>T)
c.22337-34C>T (n.22337-34C>T)
c.22196-34C>T (n.22196-34C>T)
c.48239-34C>T (n.48239-34C>T)
c.43637-34C>T (n.43637-34C>T)
c.43634-34C>T (n.43634-34C>T)
c.40676-34C>T (n.40676-34C>T)
c.22292-34C>T (n.22292-34C>T)
c.43787-34C>T (n.43787-34C>T)
c.43784-34C>T (n.43784-34C>T)
c.43217-34C>T (n.43217-34C>T)
c.40559-34C>T (n.40559-34C>T)
c.40478-34C>T (n.40478-34C>T)
c.22241-34C>T (n.22241-34C>T)
c.12095-34C>T (n.12095-34C>T)
 gnomAD v4
2g.178613973C>ACA2662133274TTN,TTN-AS1c.41642-36G>T (n.41642-36G>T)
c.22727-36G>T (n.22727-36G>T)
c.22526-36G>T (n.22526-36G>T)
c.22151-36G>T (n.22151-36G>T)
c.49346-36G>T (n.49346-36G>T)
c.44423-36G>T (n.44423-36G>T)
n.783-62C>A
c.48443-36G>T (n.48443-36G>T)
c.22337-36G>T (n.22337-36G>T)
c.22196-36G>T (n.22196-36G>T)
c.48239-36G>T (n.48239-36G>T)
c.43637-36G>T (n.43637-36G>T)
c.43634-36G>T (n.43634-36G>T)
c.40676-36G>T (n.40676-36G>T)
c.22292-36G>T (n.22292-36G>T)
c.43787-36G>T (n.43787-36G>T)
c.43784-36G>T (n.43784-36G>T)
c.43217-36G>T (n.43217-36G>T)
c.40559-36G>T (n.40559-36G>T)
c.40478-36G>T (n.40478-36G>T)
c.22241-36G>T (n.22241-36G>T)
c.12095-36G>T (n.12095-36G>T)
 gnomAD v4
2g.178613974C=CA1310549155TTN,TTN-AS1c.41642-37G= (n.41642-37G=)
c.22727-37G= (n.22727-37G=)
c.22526-37G= (n.22526-37G=)
c.22151-37G= (n.22151-37G=)
c.49346-37G= (n.49346-37G=)
c.44423-37G= (n.44423-37G=)
n.783-61C=
c.48443-37G= (n.48443-37G=)
c.22337-37G= (n.22337-37G=)
c.22196-37G= (n.22196-37G=)
c.48239-37G= (n.48239-37G=)
c.43637-37G= (n.43637-37G=)
c.43634-37G= (n.43634-37G=)
c.40676-37G= (n.40676-37G=)
c.22292-37G= (n.22292-37G=)
c.43787-37G= (n.43787-37G=)
c.43784-37G= (n.43784-37G=)
c.43217-37G= (n.43217-37G=)
c.40559-37G= (n.40559-37G=)
c.40478-37G= (n.40478-37G=)
c.22241-37G= (n.22241-37G=)
c.12095-37G= (n.12095-37G=)
2g.178613974C>GCA1994620TTN,TTN-AS1c.41642-37G>C (n.41642-37G>C)
c.22727-37G>C (n.22727-37G>C)
c.22526-37G>C (n.22526-37G>C)
c.22151-37G>C (n.22151-37G>C)
c.49346-37G>C (n.49346-37G>C)
c.44423-37G>C (n.44423-37G>C)
n.783-61C>G
c.48443-37G>C (n.48443-37G>C)
c.22337-37G>C (n.22337-37G>C)
c.22196-37G>C (n.22196-37G>C)
c.48239-37G>C (n.48239-37G>C)
c.43637-37G>C (n.43637-37G>C)
c.43634-37G>C (n.43634-37G>C)
c.40676-37G>C (n.40676-37G>C)
c.22292-37G>C (n.22292-37G>C)
c.43787-37G>C (n.43787-37G>C)
c.43784-37G>C (n.43784-37G>C)
c.43217-37G>C (n.43217-37G>C)
c.40559-37G>C (n.40559-37G>C)
c.40478-37G>C (n.40478-37G>C)
c.22241-37G>C (n.22241-37G>C)
c.12095-37G>C (n.12095-37G>C)
 dbSNP ExAC gnomAD v2
2g.178613975T>GCA2662133275TTN,TTN-AS1c.41642-38A>C (n.41642-38A>C)
c.22727-38A>C (n.22727-38A>C)
c.22526-38A>C (n.22526-38A>C)
c.22151-38A>C (n.22151-38A>C)
c.49346-38A>C (n.49346-38A>C)
c.44423-38A>C (n.44423-38A>C)
n.783-60T>G
c.48443-38A>C (n.48443-38A>C)
c.22337-38A>C (n.22337-38A>C)
c.22196-38A>C (n.22196-38A>C)
c.48239-38A>C (n.48239-38A>C)
c.43637-38A>C (n.43637-38A>C)
c.43634-38A>C (n.43634-38A>C)
c.40676-38A>C (n.40676-38A>C)
c.22292-38A>C (n.22292-38A>C)
c.43787-38A>C (n.43787-38A>C)
c.43784-38A>C (n.43784-38A>C)
c.43217-38A>C (n.43217-38A>C)
c.40559-38A>C (n.40559-38A>C)
c.40478-38A>C (n.40478-38A>C)
c.22241-38A>C (n.22241-38A>C)
c.12095-38A>C (n.12095-38A>C)
 gnomAD v4
2g.178613976G>ACA1994621TTN,TTN-AS1c.41642-39C>T (n.41642-39C>T)
c.22727-39C>T (n.22727-39C>T)
c.22526-39C>T (n.22526-39C>T)
c.22151-39C>T (n.22151-39C>T)
c.49346-39C>T (n.49346-39C>T)
c.44423-39C>T (n.44423-39C>T)
n.783-59G>A
c.48443-39C>T (n.48443-39C>T)
c.22337-39C>T (n.22337-39C>T)
c.22196-39C>T (n.22196-39C>T)
c.48239-39C>T (n.48239-39C>T)
c.43637-39C>T (n.43637-39C>T)
c.43634-39C>T (n.43634-39C>T)
c.40676-39C>T (n.40676-39C>T)
c.22292-39C>T (n.22292-39C>T)
c.43787-39C>T (n.43787-39C>T)
c.43784-39C>T (n.43784-39C>T)
c.43217-39C>T (n.43217-39C>T)
c.40559-39C>T (n.40559-39C>T)
c.40478-39C>T (n.40478-39C>T)
c.22241-39C>T (n.22241-39C>T)
c.12095-39C>T (n.12095-39C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178613976G=CA1310549156TTN,TTN-AS1c.41642-39C= (n.41642-39C=)
c.22727-39C= (n.22727-39C=)
c.22526-39C= (n.22526-39C=)
c.22151-39C= (n.22151-39C=)
c.49346-39C= (n.49346-39C=)
c.44423-39C= (n.44423-39C=)
n.783-59G=
c.48443-39C= (n.48443-39C=)
c.22337-39C= (n.22337-39C=)
c.22196-39C= (n.22196-39C=)
c.48239-39C= (n.48239-39C=)
c.43637-39C= (n.43637-39C=)
c.43634-39C= (n.43634-39C=)
c.40676-39C= (n.40676-39C=)
c.22292-39C= (n.22292-39C=)
c.43787-39C= (n.43787-39C=)
c.43784-39C= (n.43784-39C=)
c.43217-39C= (n.43217-39C=)
c.40559-39C= (n.40559-39C=)
c.40478-39C= (n.40478-39C=)
c.22241-39C= (n.22241-39C=)
c.12095-39C= (n.12095-39C=)
2g.178613977T>CCA2662133277TTN,TTN-AS1c.41642-40A>G (n.41642-40A>G)
c.22727-40A>G (n.22727-40A>G)
c.22526-40A>G (n.22526-40A>G)
c.22151-40A>G (n.22151-40A>G)
c.49346-40A>G (n.49346-40A>G)
c.44423-40A>G (n.44423-40A>G)
n.783-58T>C
c.48443-40A>G (n.48443-40A>G)
c.22337-40A>G (n.22337-40A>G)
c.22196-40A>G (n.22196-40A>G)
c.48239-40A>G (n.48239-40A>G)
c.43637-40A>G (n.43637-40A>G)
c.43634-40A>G (n.43634-40A>G)
c.40676-40A>G (n.40676-40A>G)
c.22292-40A>G (n.22292-40A>G)
c.43787-40A>G (n.43787-40A>G)
c.43784-40A>G (n.43784-40A>G)
c.43217-40A>G (n.43217-40A>G)
c.40559-40A>G (n.40559-40A>G)
c.40478-40A>G (n.40478-40A>G)
c.22241-40A>G (n.22241-40A>G)
c.12095-40A>G (n.12095-40A>G)
 gnomAD v4
2g.178613978dupCA2753331448TTN,TTN-AS1c.41642-41dup (n.41642-41dup)
c.22727-41dup (n.22727-41dup)
c.22526-41dup (n.22526-41dup)
c.22151-41dup (n.22151-41dup)
c.49346-41dup (n.49346-41dup)
c.44423-41dup (n.44423-41dup)
n.783-57dup
c.48443-41dup (n.48443-41dup)
c.22337-41dup (n.22337-41dup)
c.22196-41dup (n.22196-41dup)
c.48239-41dup (n.48239-41dup)
c.43637-41dup (n.43637-41dup)
c.43634-41dup (n.43634-41dup)
c.40676-41dup (n.40676-41dup)
c.22292-41dup (n.22292-41dup)
c.43787-41dup (n.43787-41dup)
c.43784-41dup (n.43784-41dup)
c.43217-41dup (n.43217-41dup)
c.40559-41dup (n.40559-41dup)
c.40478-41dup (n.40478-41dup)
c.22241-41dup (n.22241-41dup)
c.12095-41dup (n.12095-41dup)
2g.178613979T>CCA538435816TTN,TTN-AS1c.41642-42A>G (n.41642-42A>G)
c.22727-42A>G (n.22727-42A>G)
c.22526-42A>G (n.22526-42A>G)
c.22151-42A>G (n.22151-42A>G)
c.49346-42A>G (n.49346-42A>G)
c.44423-42A>G (n.44423-42A>G)
n.783-56T>C
c.48443-42A>G (n.48443-42A>G)
c.22337-42A>G (n.22337-42A>G)
c.22196-42A>G (n.22196-42A>G)
c.48239-42A>G (n.48239-42A>G)
c.43637-42A>G (n.43637-42A>G)
c.43634-42A>G (n.43634-42A>G)
c.40676-42A>G (n.40676-42A>G)
c.22292-42A>G (n.22292-42A>G)
c.43787-42A>G (n.43787-42A>G)
c.43784-42A>G (n.43784-42A>G)
c.43217-42A>G (n.43217-42A>G)
c.40559-42A>G (n.40559-42A>G)
c.40478-42A>G (n.40478-42A>G)
c.22241-42A>G (n.22241-42A>G)
c.12095-42A>G (n.12095-42A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178613979T=CA1310549157TTN,TTN-AS1c.41642-42A= (n.41642-42A=)
c.22727-42A= (n.22727-42A=)
c.22526-42A= (n.22526-42A=)
c.22151-42A= (n.22151-42A=)
c.49346-42A= (n.49346-42A=)
c.44423-42A= (n.44423-42A=)
n.783-56T=
c.48443-42A= (n.48443-42A=)
c.22337-42A= (n.22337-42A=)
c.22196-42A= (n.22196-42A=)
c.48239-42A= (n.48239-42A=)
c.43637-42A= (n.43637-42A=)
c.43634-42A= (n.43634-42A=)
c.40676-42A= (n.40676-42A=)
c.22292-42A= (n.22292-42A=)
c.43787-42A= (n.43787-42A=)
c.43784-42A= (n.43784-42A=)
c.43217-42A= (n.43217-42A=)
c.40559-42A= (n.40559-42A=)
c.40478-42A= (n.40478-42A=)
c.22241-42A= (n.22241-42A=)
c.12095-42A= (n.12095-42A=)
2g.178613980A=CA1310549158TTN,TTN-AS1c.41642-43T= (n.41642-43T=)
c.22727-43T= (n.22727-43T=)
c.22526-43T= (n.22526-43T=)
c.22151-43T= (n.22151-43T=)
c.49346-43T= (n.49346-43T=)
c.44423-43T= (n.44423-43T=)
n.783-55A=
c.48443-43T= (n.48443-43T=)
c.22337-43T= (n.22337-43T=)
c.22196-43T= (n.22196-43T=)
c.48239-43T= (n.48239-43T=)
c.43637-43T= (n.43637-43T=)
c.43634-43T= (n.43634-43T=)
c.40676-43T= (n.40676-43T=)
c.22292-43T= (n.22292-43T=)
c.43787-43T= (n.43787-43T=)
c.43784-43T= (n.43784-43T=)
c.43217-43T= (n.43217-43T=)
c.40559-43T= (n.40559-43T=)
c.40478-43T= (n.40478-43T=)
c.22241-43T= (n.22241-43T=)
c.12095-43T= (n.12095-43T=)
2g.178613980A>GCA1994622TTN,TTN-AS1c.41642-43T>C (n.41642-43T>C)
c.22727-43T>C (n.22727-43T>C)
c.22526-43T>C (n.22526-43T>C)
c.22151-43T>C (n.22151-43T>C)
c.49346-43T>C (n.49346-43T>C)
c.44423-43T>C (n.44423-43T>C)
n.783-55A>G
c.48443-43T>C (n.48443-43T>C)
c.22337-43T>C (n.22337-43T>C)
c.22196-43T>C (n.22196-43T>C)
c.48239-43T>C (n.48239-43T>C)
c.43637-43T>C (n.43637-43T>C)
c.43634-43T>C (n.43634-43T>C)
c.40676-43T>C (n.40676-43T>C)
c.22292-43T>C (n.22292-43T>C)
c.43787-43T>C (n.43787-43T>C)
c.43784-43T>C (n.43784-43T>C)
c.43217-43T>C (n.43217-43T>C)
c.40559-43T>C (n.40559-43T>C)
c.40478-43T>C (n.40478-43T>C)
c.22241-43T>C (n.22241-43T>C)
c.12095-43T>C (n.12095-43T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178613981T>GCA2662133279TTN,TTN-AS1c.41642-44A>C (n.41642-44A>C)
c.22727-44A>C (n.22727-44A>C)
c.22526-44A>C (n.22526-44A>C)
c.22151-44A>C (n.22151-44A>C)
c.49346-44A>C (n.49346-44A>C)
c.44423-44A>C (n.44423-44A>C)
n.783-54T>G
c.48443-44A>C (n.48443-44A>C)
c.22337-44A>C (n.22337-44A>C)
c.22196-44A>C (n.22196-44A>C)
c.48239-44A>C (n.48239-44A>C)
c.43637-44A>C (n.43637-44A>C)
c.43634-44A>C (n.43634-44A>C)
c.40676-44A>C (n.40676-44A>C)
c.22292-44A>C (n.22292-44A>C)
c.43787-44A>C (n.43787-44A>C)
c.43784-44A>C (n.43784-44A>C)
c.43217-44A>C (n.43217-44A>C)
c.40559-44A>C (n.40559-44A>C)
c.40478-44A>C (n.40478-44A>C)
c.22241-44A>C (n.22241-44A>C)
c.12095-44A>C (n.12095-44A>C)
 gnomAD v4
2g.178613983_178613985delinsAATCA1310549159TTN,TTN-AS1c.41642-48_41642-46delinsATT (n.41642-48_41642-46delinsATT)
c.22727-48_22727-46delinsATT (n.22727-48_22727-46delinsATT)
c.22526-48_22526-46delinsATT (n.22526-48_22526-46delinsATT)
c.22151-48_22151-46delinsATT (n.22151-48_22151-46delinsATT)
c.49346-48_49346-46delinsATT (n.49346-48_49346-46delinsATT)
c.44423-48_44423-46delinsATT (n.44423-48_44423-46delinsATT)
n.783-52_783-50delinsAAT
c.48443-48_48443-46delinsATT (n.48443-48_48443-46delinsATT)
c.22337-48_22337-46delinsATT (n.22337-48_22337-46delinsATT)
c.22196-48_22196-46delinsATT (n.22196-48_22196-46delinsATT)
c.48239-48_48239-46delinsATT (n.48239-48_48239-46delinsATT)
c.43637-48_43637-46delinsATT (n.43637-48_43637-46delinsATT)
c.43634-48_43634-46delinsATT (n.43634-48_43634-46delinsATT)
c.40676-48_40676-46delinsATT (n.40676-48_40676-46delinsATT)
c.22292-48_22292-46delinsATT (n.22292-48_22292-46delinsATT)
c.43787-48_43787-46delinsATT (n.43787-48_43787-46delinsATT)
c.43784-48_43784-46delinsATT (n.43784-48_43784-46delinsATT)
c.43217-48_43217-46delinsATT (n.43217-48_43217-46delinsATT)
c.40559-48_40559-46delinsATT (n.40559-48_40559-46delinsATT)
c.40478-48_40478-46delinsATT (n.40478-48_40478-46delinsATT)
c.22241-48_22241-46delinsATT (n.22241-48_22241-46delinsATT)
c.12095-48_12095-46delinsATT (n.12095-48_12095-46delinsATT)
2g.178613986_178613987delCA1994623TTN,TTN-AS1c.41642-48_41642-47del (n.41642-48_41642-47del)
c.22727-48_22727-47del (n.22727-48_22727-47del)
c.22526-48_22526-47del (n.22526-48_22526-47del)
c.22151-48_22151-47del (n.22151-48_22151-47del)
c.49346-48_49346-47del (n.49346-48_49346-47del)
c.44423-48_44423-47del (n.44423-48_44423-47del)
n.783-49_783-48del
c.48443-48_48443-47del (n.48443-48_48443-47del)
c.22337-48_22337-47del (n.22337-48_22337-47del)
c.22196-48_22196-47del (n.22196-48_22196-47del)
c.48239-48_48239-47del (n.48239-48_48239-47del)
c.43637-48_43637-47del (n.43637-48_43637-47del)
c.43634-48_43634-47del (n.43634-48_43634-47del)
c.40676-48_40676-47del (n.40676-48_40676-47del)
c.22292-48_22292-47del (n.22292-48_22292-47del)
c.43787-48_43787-47del (n.43787-48_43787-47del)
c.43784-48_43784-47del (n.43784-48_43784-47del)
c.43217-48_43217-47del (n.43217-48_43217-47del)
c.40559-48_40559-47del (n.40559-48_40559-47del)
c.40478-48_40478-47del (n.40478-48_40478-47del)
c.22241-48_22241-47del (n.22241-48_22241-47del)
c.12095-48_12095-47del (n.12095-48_12095-47del)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178613986A=CA1310549160TTN,TTN-AS1c.41642-49T= (n.41642-49T=)
c.22727-49T= (n.22727-49T=)
c.22526-49T= (n.22526-49T=)
c.22151-49T= (n.22151-49T=)
c.49346-49T= (n.49346-49T=)
c.44423-49T= (n.44423-49T=)
n.783-49A=
c.48443-49T= (n.48443-49T=)
c.22337-49T= (n.22337-49T=)
c.22196-49T= (n.22196-49T=)
c.48239-49T= (n.48239-49T=)
c.43637-49T= (n.43637-49T=)
c.43634-49T= (n.43634-49T=)
c.40676-49T= (n.40676-49T=)
c.22292-49T= (n.22292-49T=)
c.43787-49T= (n.43787-49T=)
c.43784-49T= (n.43784-49T=)
c.43217-49T= (n.43217-49T=)
c.40559-49T= (n.40559-49T=)
c.40478-49T= (n.40478-49T=)
c.22241-49T= (n.22241-49T=)
c.12095-49T= (n.12095-49T=)
2g.178613986A>GCA538435817TTN,TTN-AS1c.41642-49T>C (n.41642-49T>C)
c.22727-49T>C (n.22727-49T>C)
c.22526-49T>C (n.22526-49T>C)
c.22151-49T>C (n.22151-49T>C)
c.49346-49T>C (n.49346-49T>C)
c.44423-49T>C (n.44423-49T>C)
n.783-49A>G
c.48443-49T>C (n.48443-49T>C)
c.22337-49T>C (n.22337-49T>C)
c.22196-49T>C (n.22196-49T>C)
c.48239-49T>C (n.48239-49T>C)
c.43637-49T>C (n.43637-49T>C)
c.43634-49T>C (n.43634-49T>C)
c.40676-49T>C (n.40676-49T>C)
c.22292-49T>C (n.22292-49T>C)
c.43787-49T>C (n.43787-49T>C)
c.43784-49T>C (n.43784-49T>C)
c.43217-49T>C (n.43217-49T>C)
c.40559-49T>C (n.40559-49T>C)
c.40478-49T>C (n.40478-49T>C)
c.22241-49T>C (n.22241-49T>C)
c.12095-49T>C (n.12095-49T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.178613988G>ACA1310549162TTN,TTN-AS1c.41642-51C>T (n.41642-51C>T)
c.22727-51C>T (n.22727-51C>T)
c.22526-51C>T (n.22526-51C>T)
c.22151-51C>T (n.22151-51C>T)
c.49346-51C>T (n.49346-51C>T)
c.44423-51C>T (n.44423-51C>T)
n.783-47G>A
c.48443-51C>T (n.48443-51C>T)
c.22337-51C>T (n.22337-51C>T)
c.22196-51C>T (n.22196-51C>T)
c.48239-51C>T (n.48239-51C>T)
c.43637-51C>T (n.43637-51C>T)
c.43634-51C>T (n.43634-51C>T)
c.40676-51C>T (n.40676-51C>T)
c.22292-51C>T (n.22292-51C>T)
c.43787-51C>T (n.43787-51C>T)
c.43784-51C>T (n.43784-51C>T)
c.43217-51C>T (n.43217-51C>T)
c.40559-51C>T (n.40559-51C>T)
c.40478-51C>T (n.40478-51C>T)
c.22241-51C>T (n.22241-51C>T)
c.12095-51C>T (n.12095-51C>T)
 dbSNP
2g.178613988G=CA1310549161TTN,TTN-AS1c.41642-51C= (n.41642-51C=)
c.22727-51C= (n.22727-51C=)
c.22526-51C= (n.22526-51C=)
c.22151-51C= (n.22151-51C=)
c.49346-51C= (n.49346-51C=)
c.44423-51C= (n.44423-51C=)
n.783-47G=
c.48443-51C= (n.48443-51C=)
c.22337-51C= (n.22337-51C=)
c.22196-51C= (n.22196-51C=)
c.48239-51C= (n.48239-51C=)
c.43637-51C= (n.43637-51C=)
c.43634-51C= (n.43634-51C=)
c.40676-51C= (n.40676-51C=)
c.22292-51C= (n.22292-51C=)
c.43787-51C= (n.43787-51C=)
c.43784-51C= (n.43784-51C=)
c.43217-51C= (n.43217-51C=)
c.40559-51C= (n.40559-51C=)
c.40478-51C= (n.40478-51C=)
c.22241-51C= (n.22241-51C=)
c.12095-51C= (n.12095-51C=)
2g.178613988G>TCA2662133280TTN,TTN-AS1c.41642-51C>A (n.41642-51C>A)
c.22727-51C>A (n.22727-51C>A)
c.22526-51C>A (n.22526-51C>A)
c.22151-51C>A (n.22151-51C>A)
c.49346-51C>A (n.49346-51C>A)
c.44423-51C>A (n.44423-51C>A)
n.783-47G>T
c.48443-51C>A (n.48443-51C>A)
c.22337-51C>A (n.22337-51C>A)
c.22196-51C>A (n.22196-51C>A)
c.48239-51C>A (n.48239-51C>A)
c.43637-51C>A (n.43637-51C>A)
c.43634-51C>A (n.43634-51C>A)
c.40676-51C>A (n.40676-51C>A)
c.22292-51C>A (n.22292-51C>A)
c.43787-51C>A (n.43787-51C>A)
c.43784-51C>A (n.43784-51C>A)
c.43217-51C>A (n.43217-51C>A)
c.40559-51C>A (n.40559-51C>A)
c.40478-51C>A (n.40478-51C>A)
c.22241-51C>A (n.22241-51C>A)
c.12095-51C>A (n.12095-51C>A)
 gnomAD v4

Number of alleles fetched