Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178547731delCA261917TTN,TTN-AS1c.86193del (p.Phe28731LeufsTer14)
c.67278del (p.Phe22426LeufsTer14)
c.67077del (p.Phe22359LeufsTer14)
c.66702del (p.Phe22234LeufsTer14)
c.93897del (p.Phe31299LeufsTer14)
c.88974del (p.Phe29658LeufsTer14)
n.447-23569del
n.2043+5370del
c.92994del (p.Phe30998LeufsTer14)
c.66888del (p.Phe22296LeufsTer14)
c.66747del (p.Phe22249LeufsTer14)
c.92790del (p.Phe30930LeufsTer14)
c.88188del (p.Phe29396LeufsTer14)
c.88185del (p.Phe29395LeufsTer14)
c.85227del (p.Phe28409LeufsTer14)
c.66843del (p.Phe22281LeufsTer14)
c.88338del (p.Phe29446LeufsTer14)
c.88335del (p.Phe29445LeufsTer14)
c.87768del (p.Phe29256LeufsTer14)
c.85110del (p.Phe28370LeufsTer14)
c.85029del (p.Phe28343LeufsTer14)
c.66792del (p.Phe22264LeufsTer14)
c.56646del (p.Phe18882LeufsTer14)
 ClinVar dbSNP gnomAD v4
2g.178547731A>CCA349479818TTN,TTN-AS1c.86191T>G (p.Phe28731Val)
c.67276T>G (p.Phe22426Val)
c.67075T>G (p.Phe22359Val)
c.66700T>G (p.Phe22234Val)
c.93895T>G (p.Phe31299Val)
c.88972T>G (p.Phe29658Val)
n.447-23569A>C
n.2043+5370A>C
c.92992T>G (p.Phe30998Val)
c.66886T>G (p.Phe22296Val)
c.66745T>G (p.Phe22249Val)
c.92788T>G (p.Phe30930Val)
c.88186T>G (p.Phe29396Val)
c.88183T>G (p.Phe29395Val)
c.85225T>G (p.Phe28409Val)
c.66841T>G (p.Phe22281Val)
c.88336T>G (p.Phe29446Val)
c.88333T>G (p.Phe29445Val)
c.87766T>G (p.Phe29256Val)
c.85108T>G (p.Phe28370Val)
c.85027T>G (p.Phe28343Val)
c.66790T>G (p.Phe22264Val)
c.56644T>G (p.Phe18882Val)
2g.178547731A>GCA349479827TTN,TTN-AS1c.86191T>C (p.Phe28731Leu)
c.67276T>C (p.Phe22426Leu)
c.67075T>C (p.Phe22359Leu)
c.66700T>C (p.Phe22234Leu)
c.93895T>C (p.Phe31299Leu)
c.88972T>C (p.Phe29658Leu)
n.447-23569A>G
n.2043+5370A>G
c.92992T>C (p.Phe30998Leu)
c.66886T>C (p.Phe22296Leu)
c.66745T>C (p.Phe22249Leu)
c.92788T>C (p.Phe30930Leu)
c.88186T>C (p.Phe29396Leu)
c.88183T>C (p.Phe29395Leu)
c.85225T>C (p.Phe28409Leu)
c.66841T>C (p.Phe22281Leu)
c.88336T>C (p.Phe29446Leu)
c.88333T>C (p.Phe29445Leu)
c.87766T>C (p.Phe29256Leu)
c.85108T>C (p.Phe28370Leu)
c.85027T>C (p.Phe28343Leu)
c.66790T>C (p.Phe22264Leu)
c.56644T>C (p.Phe18882Leu)
 gnomAD v4
2g.178547731A>TCA349479826TTN,TTN-AS1c.86191T>A (p.Phe28731Ile)
c.67276T>A (p.Phe22426Ile)
c.67075T>A (p.Phe22359Ile)
c.66700T>A (p.Phe22234Ile)
c.93895T>A (p.Phe31299Ile)
c.88972T>A (p.Phe29658Ile)
n.447-23569A>T
n.2043+5370A>T
c.92992T>A (p.Phe30998Ile)
c.66886T>A (p.Phe22296Ile)
c.66745T>A (p.Phe22249Ile)
c.92788T>A (p.Phe30930Ile)
c.88186T>A (p.Phe29396Ile)
c.88183T>A (p.Phe29395Ile)
c.85225T>A (p.Phe28409Ile)
c.66841T>A (p.Phe22281Ile)
c.88336T>A (p.Phe29446Ile)
c.88333T>A (p.Phe29445Ile)
c.87766T>A (p.Phe29256Ile)
c.85108T>A (p.Phe28370Ile)
c.85027T>A (p.Phe28343Ile)
c.66790T>A (p.Phe22264Ile)
c.56644T>A (p.Phe18882Ile)
2g.178547732T>ACA430242862TTN,TTN-AS1c.86190A>T (p.Thr28730=)
c.67275A>T (p.Thr22425=)
c.67074A>T (p.Thr22358=)
c.66699A>T (p.Thr22233=)
c.93894A>T (p.Thr31298=)
c.88971A>T (p.Thr29657=)
n.447-23568T>A
n.2043+5371T>A
c.92991A>T (p.Thr30997=)
c.66885A>T (p.Thr22295=)
c.66744A>T (p.Thr22248=)
c.92787A>T (p.Thr30929=)
c.88185A>T (p.Thr29395=)
c.88182A>T (p.Thr29394=)
c.85224A>T (p.Thr28408=)
c.66840A>T (p.Thr22280=)
c.88335A>T (p.Thr29445=)
c.88332A>T (p.Thr29444=)
c.87765A>T (p.Thr29255=)
c.85107A>T (p.Thr28369=)
c.85026A>T (p.Thr28342=)
c.66789A>T (p.Thr22263=)
c.56643A>T (p.Thr18881=)
2g.178547732T>CCA430242863TTN,TTN-AS1c.86190A>G (p.Thr28730=)
c.67275A>G (p.Thr22425=)
c.67074A>G (p.Thr22358=)
c.66699A>G (p.Thr22233=)
c.93894A>G (p.Thr31298=)
c.88971A>G (p.Thr29657=)
n.447-23568T>C
n.2043+5371T>C
c.92991A>G (p.Thr30997=)
c.66885A>G (p.Thr22295=)
c.66744A>G (p.Thr22248=)
c.92787A>G (p.Thr30929=)
c.88185A>G (p.Thr29395=)
c.88182A>G (p.Thr29394=)
c.85224A>G (p.Thr28408=)
c.66840A>G (p.Thr22280=)
c.88335A>G (p.Thr29445=)
c.88332A>G (p.Thr29444=)
c.87765A>G (p.Thr29255=)
c.85107A>G (p.Thr28369=)
c.85026A>G (p.Thr28342=)
c.66789A>G (p.Thr22263=)
c.56643A>G (p.Thr18881=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178547732T>GCA430242865TTN,TTN-AS1c.86190A>C (p.Thr28730=)
c.67275A>C (p.Thr22425=)
c.67074A>C (p.Thr22358=)
c.66699A>C (p.Thr22233=)
c.93894A>C (p.Thr31298=)
c.88971A>C (p.Thr29657=)
n.447-23568T>G
n.2043+5371T>G
c.92991A>C (p.Thr30997=)
c.66885A>C (p.Thr22295=)
c.66744A>C (p.Thr22248=)
c.92787A>C (p.Thr30929=)
c.88185A>C (p.Thr29395=)
c.88182A>C (p.Thr29394=)
c.85224A>C (p.Thr28408=)
c.66840A>C (p.Thr22280=)
c.88335A>C (p.Thr29445=)
c.88332A>C (p.Thr29444=)
c.87765A>C (p.Thr29255=)
c.85107A>C (p.Thr28369=)
c.85026A>C (p.Thr28342=)
c.66789A>C (p.Thr22263=)
c.56643A>C (p.Thr18881=)
2g.178547732T=CA1310524217TTN,TTN-AS1c.86190A= (p.Thr28730=)
c.67275A= (p.Thr22425=)
c.67074A= (p.Thr22358=)
c.66699A= (p.Thr22233=)
c.93894A= (p.Thr31298=)
c.88971A= (p.Thr29657=)
n.447-23568T=
n.2043+5371T=
c.92991A= (p.Thr30997=)
c.66885A= (p.Thr22295=)
c.66744A= (p.Thr22248=)
c.92787A= (p.Thr30929=)
c.88185A= (p.Thr29395=)
c.88182A= (p.Thr29394=)
c.85224A= (p.Thr28408=)
c.66840A= (p.Thr22280=)
c.88335A= (p.Thr29445=)
c.88332A= (p.Thr29444=)
c.87765A= (p.Thr29255=)
c.85107A= (p.Thr28369=)
c.85026A= (p.Thr28342=)
c.66789A= (p.Thr22263=)
c.56643A= (p.Thr18881=)
2g.178547733G>ACA349479831TTN,TTN-AS1c.86189C>T (p.Thr28730Ile)
c.67274C>T (p.Thr22425Ile)
c.67073C>T (p.Thr22358Ile)
c.66698C>T (p.Thr22233Ile)
c.93893C>T (p.Thr31298Ile)
c.88970C>T (p.Thr29657Ile)
n.447-23567G>A
n.2043+5372G>A
c.92990C>T (p.Thr30997Ile)
c.66884C>T (p.Thr22295Ile)
c.66743C>T (p.Thr22248Ile)
c.92786C>T (p.Thr30929Ile)
c.88184C>T (p.Thr29395Ile)
c.88181C>T (p.Thr29394Ile)
c.85223C>T (p.Thr28408Ile)
c.66839C>T (p.Thr22280Ile)
c.88334C>T (p.Thr29445Ile)
c.88331C>T (p.Thr29444Ile)
c.87764C>T (p.Thr29255Ile)
c.85106C>T (p.Thr28369Ile)
c.85025C>T (p.Thr28342Ile)
c.66788C>T (p.Thr22263Ile)
c.56642C>T (p.Thr18881Ile)
2g.178547733G>CCA349479837TTN,TTN-AS1c.86189C>G (p.Thr28730Arg)
c.67274C>G (p.Thr22425Arg)
c.67073C>G (p.Thr22358Arg)
c.66698C>G (p.Thr22233Arg)
c.93893C>G (p.Thr31298Arg)
c.88970C>G (p.Thr29657Arg)
n.447-23567G>C
n.2043+5372G>C
c.92990C>G (p.Thr30997Arg)
c.66884C>G (p.Thr22295Arg)
c.66743C>G (p.Thr22248Arg)
c.92786C>G (p.Thr30929Arg)
c.88184C>G (p.Thr29395Arg)
c.88181C>G (p.Thr29394Arg)
c.85223C>G (p.Thr28408Arg)
c.66839C>G (p.Thr22280Arg)
c.88334C>G (p.Thr29445Arg)
c.88331C>G (p.Thr29444Arg)
c.87764C>G (p.Thr29255Arg)
c.85106C>G (p.Thr28369Arg)
c.85025C>G (p.Thr28342Arg)
c.66788C>G (p.Thr22263Arg)
c.56642C>G (p.Thr18881Arg)
2g.178547733G>TCA349479835TTN,TTN-AS1c.86189C>A (p.Thr28730Lys)
c.67274C>A (p.Thr22425Lys)
c.67073C>A (p.Thr22358Lys)
c.66698C>A (p.Thr22233Lys)
c.93893C>A (p.Thr31298Lys)
c.88970C>A (p.Thr29657Lys)
n.447-23567G>T
n.2043+5372G>T
c.92990C>A (p.Thr30997Lys)
c.66884C>A (p.Thr22295Lys)
c.66743C>A (p.Thr22248Lys)
c.92786C>A (p.Thr30929Lys)
c.88184C>A (p.Thr29395Lys)
c.88181C>A (p.Thr29394Lys)
c.85223C>A (p.Thr28408Lys)
c.66839C>A (p.Thr22280Lys)
c.88334C>A (p.Thr29445Lys)
c.88331C>A (p.Thr29444Lys)
c.87764C>A (p.Thr29255Lys)
c.85106C>A (p.Thr28369Lys)
c.85025C>A (p.Thr28342Lys)
c.66788C>A (p.Thr22263Lys)
c.56642C>A (p.Thr18881Lys)
2g.178547734T>ACA349479840TTN,TTN-AS1c.86188A>T (p.Thr28730Ser)
c.67273A>T (p.Thr22425Ser)
c.67072A>T (p.Thr22358Ser)
c.66697A>T (p.Thr22233Ser)
c.93892A>T (p.Thr31298Ser)
c.88969A>T (p.Thr29657Ser)
n.447-23566T>A
n.2043+5373T>A
c.92989A>T (p.Thr30997Ser)
c.66883A>T (p.Thr22295Ser)
c.66742A>T (p.Thr22248Ser)
c.92785A>T (p.Thr30929Ser)
c.88183A>T (p.Thr29395Ser)
c.88180A>T (p.Thr29394Ser)
c.85222A>T (p.Thr28408Ser)
c.66838A>T (p.Thr22280Ser)
c.88333A>T (p.Thr29445Ser)
c.88330A>T (p.Thr29444Ser)
c.87763A>T (p.Thr29255Ser)
c.85105A>T (p.Thr28369Ser)
c.85024A>T (p.Thr28342Ser)
c.66787A>T (p.Thr22263Ser)
c.56641A>T (p.Thr18881Ser)
2g.178547734T>CCA349479848TTN,TTN-AS1c.86188A>G (p.Thr28730Ala)
c.67273A>G (p.Thr22425Ala)
c.67072A>G (p.Thr22358Ala)
c.66697A>G (p.Thr22233Ala)
c.93892A>G (p.Thr31298Ala)
c.88969A>G (p.Thr29657Ala)
n.447-23566T>C
n.2043+5373T>C
c.92989A>G (p.Thr30997Ala)
c.66883A>G (p.Thr22295Ala)
c.66742A>G (p.Thr22248Ala)
c.92785A>G (p.Thr30929Ala)
c.88183A>G (p.Thr29395Ala)
c.88180A>G (p.Thr29394Ala)
c.85222A>G (p.Thr28408Ala)
c.66838A>G (p.Thr22280Ala)
c.88333A>G (p.Thr29445Ala)
c.88330A>G (p.Thr29444Ala)
c.87763A>G (p.Thr29255Ala)
c.85105A>G (p.Thr28369Ala)
c.85024A>G (p.Thr28342Ala)
c.66787A>G (p.Thr22263Ala)
c.56641A>G (p.Thr18881Ala)
 dbSNP gnomAD v4
2g.178547734T>GCA349479846TTN,TTN-AS1c.86188A>C (p.Thr28730Pro)
c.67273A>C (p.Thr22425Pro)
c.67072A>C (p.Thr22358Pro)
c.66697A>C (p.Thr22233Pro)
c.93892A>C (p.Thr31298Pro)
c.88969A>C (p.Thr29657Pro)
n.447-23566T>G
n.2043+5373T>G
c.92989A>C (p.Thr30997Pro)
c.66883A>C (p.Thr22295Pro)
c.66742A>C (p.Thr22248Pro)
c.92785A>C (p.Thr30929Pro)
c.88183A>C (p.Thr29395Pro)
c.88180A>C (p.Thr29394Pro)
c.85222A>C (p.Thr28408Pro)
c.66838A>C (p.Thr22280Pro)
c.88333A>C (p.Thr29445Pro)
c.88330A>C (p.Thr29444Pro)
c.87763A>C (p.Thr29255Pro)
c.85105A>C (p.Thr28369Pro)
c.85024A>C (p.Thr28342Pro)
c.66787A>C (p.Thr22263Pro)
c.56641A>C (p.Thr18881Pro)
2g.178547734T=CA1310524218TTN,TTN-AS1c.86188A= (p.Thr28730=)
c.67273A= (p.Thr22425=)
c.67072A= (p.Thr22358=)
c.66697A= (p.Thr22233=)
c.93892A= (p.Thr31298=)
c.88969A= (p.Thr29657=)
n.447-23566T=
n.2043+5373T=
c.92989A= (p.Thr30997=)
c.66883A= (p.Thr22295=)
c.66742A= (p.Thr22248=)
c.92785A= (p.Thr30929=)
c.88183A= (p.Thr29395=)
c.88180A= (p.Thr29394=)
c.85222A= (p.Thr28408=)
c.66838A= (p.Thr22280=)
c.88333A= (p.Thr29445=)
c.88330A= (p.Thr29444=)
c.87763A= (p.Thr29255=)
c.85105A= (p.Thr28369=)
c.85024A= (p.Thr28342=)
c.66787A= (p.Thr22263=)
c.56641A= (p.Thr18881=)
2g.178547735T>ACA349479853TTN,TTN-AS1c.86187A>T (p.Lys28729Asn)
c.67272A>T (p.Lys22424Asn)
c.67071A>T (p.Lys22357Asn)
c.66696A>T (p.Lys22232Asn)
c.93891A>T (p.Lys31297Asn)
c.88968A>T (p.Lys29656Asn)
n.447-23565T>A
n.2043+5374T>A
c.92988A>T (p.Lys30996Asn)
c.66882A>T (p.Lys22294Asn)
c.66741A>T (p.Lys22247Asn)
c.92784A>T (p.Lys30928Asn)
c.88182A>T (p.Lys29394Asn)
c.88179A>T (p.Lys29393Asn)
c.85221A>T (p.Lys28407Asn)
c.66837A>T (p.Lys22279Asn)
c.88332A>T (p.Lys29444Asn)
c.88329A>T (p.Lys29443Asn)
c.87762A>T (p.Lys29254Asn)
c.85104A>T (p.Lys28368Asn)
c.85023A>T (p.Lys28341Asn)
c.66786A>T (p.Lys22262Asn)
c.56640A>T (p.Lys18880Asn)
2g.178547735T>CCA430242867TTN,TTN-AS1c.86187A>G (p.Lys28729=)
c.67272A>G (p.Lys22424=)
c.67071A>G (p.Lys22357=)
c.66696A>G (p.Lys22232=)
c.93891A>G (p.Lys31297=)
c.88968A>G (p.Lys29656=)
n.447-23565T>C
n.2043+5374T>C
c.92988A>G (p.Lys30996=)
c.66882A>G (p.Lys22294=)
c.66741A>G (p.Lys22247=)
c.92784A>G (p.Lys30928=)
c.88182A>G (p.Lys29394=)
c.88179A>G (p.Lys29393=)
c.85221A>G (p.Lys28407=)
c.66837A>G (p.Lys22279=)
c.88332A>G (p.Lys29444=)
c.88329A>G (p.Lys29443=)
c.87762A>G (p.Lys29254=)
c.85104A>G (p.Lys28368=)
c.85023A>G (p.Lys28341=)
c.66786A>G (p.Lys22262=)
c.56640A>G (p.Lys18880=)
 ClinVar
2g.178547735T>GCA349479856TTN,TTN-AS1c.86187A>C (p.Lys28729Asn)
c.67272A>C (p.Lys22424Asn)
c.67071A>C (p.Lys22357Asn)
c.66696A>C (p.Lys22232Asn)
c.93891A>C (p.Lys31297Asn)
c.88968A>C (p.Lys29656Asn)
n.447-23565T>G
n.2043+5374T>G
c.92988A>C (p.Lys30996Asn)
c.66882A>C (p.Lys22294Asn)
c.66741A>C (p.Lys22247Asn)
c.92784A>C (p.Lys30928Asn)
c.88182A>C (p.Lys29394Asn)
c.88179A>C (p.Lys29393Asn)
c.85221A>C (p.Lys28407Asn)
c.66837A>C (p.Lys22279Asn)
c.88332A>C (p.Lys29444Asn)
c.88329A>C (p.Lys29443Asn)
c.87762A>C (p.Lys29254Asn)
c.85104A>C (p.Lys28368Asn)
c.85023A>C (p.Lys28341Asn)
c.66786A>C (p.Lys22262Asn)
c.56640A>C (p.Lys18880Asn)
2g.178547736T>ACA349479861TTN,TTN-AS1c.86186A>T (p.Lys28729Ile)
c.67271A>T (p.Lys22424Ile)
c.67070A>T (p.Lys22357Ile)
c.66695A>T (p.Lys22232Ile)
c.93890A>T (p.Lys31297Ile)
c.88967A>T (p.Lys29656Ile)
n.447-23564T>A
n.2043+5375T>A
c.92987A>T (p.Lys30996Ile)
c.66881A>T (p.Lys22294Ile)
c.66740A>T (p.Lys22247Ile)
c.92783A>T (p.Lys30928Ile)
c.88181A>T (p.Lys29394Ile)
c.88178A>T (p.Lys29393Ile)
c.85220A>T (p.Lys28407Ile)
c.66836A>T (p.Lys22279Ile)
c.88331A>T (p.Lys29444Ile)
c.88328A>T (p.Lys29443Ile)
c.87761A>T (p.Lys29254Ile)
c.85103A>T (p.Lys28368Ile)
c.85022A>T (p.Lys28341Ile)
c.66785A>T (p.Lys22262Ile)
c.56639A>T (p.Lys18880Ile)
2g.178547736T>CCA349479864TTN,TTN-AS1c.86186A>G (p.Lys28729Arg)
c.67271A>G (p.Lys22424Arg)
c.67070A>G (p.Lys22357Arg)
c.66695A>G (p.Lys22232Arg)
c.93890A>G (p.Lys31297Arg)
c.88967A>G (p.Lys29656Arg)
n.447-23564T>C
n.2043+5375T>C
c.92987A>G (p.Lys30996Arg)
c.66881A>G (p.Lys22294Arg)
c.66740A>G (p.Lys22247Arg)
c.92783A>G (p.Lys30928Arg)
c.88181A>G (p.Lys29394Arg)
c.88178A>G (p.Lys29393Arg)
c.85220A>G (p.Lys28407Arg)
c.66836A>G (p.Lys22279Arg)
c.88331A>G (p.Lys29444Arg)
c.88328A>G (p.Lys29443Arg)
c.87761A>G (p.Lys29254Arg)
c.85103A>G (p.Lys28368Arg)
c.85022A>G (p.Lys28341Arg)
c.66785A>G (p.Lys22262Arg)
c.56639A>G (p.Lys18880Arg)
2g.178547736T>GCA349479889TTN,TTN-AS1c.86186A>C (p.Lys28729Thr)
c.67271A>C (p.Lys22424Thr)
c.67070A>C (p.Lys22357Thr)
c.66695A>C (p.Lys22232Thr)
c.93890A>C (p.Lys31297Thr)
c.88967A>C (p.Lys29656Thr)
n.447-23564T>G
n.2043+5375T>G
c.92987A>C (p.Lys30996Thr)
c.66881A>C (p.Lys22294Thr)
c.66740A>C (p.Lys22247Thr)
c.92783A>C (p.Lys30928Thr)
c.88181A>C (p.Lys29394Thr)
c.88178A>C (p.Lys29393Thr)
c.85220A>C (p.Lys28407Thr)
c.66836A>C (p.Lys22279Thr)
c.88331A>C (p.Lys29444Thr)
c.88328A>C (p.Lys29443Thr)
c.87761A>C (p.Lys29254Thr)
c.85103A>C (p.Lys28368Thr)
c.85022A>C (p.Lys28341Thr)
c.66785A>C (p.Lys22262Thr)
c.56639A>C (p.Lys18880Thr)
2g.178547737T>ACA349479894TTN,TTN-AS1c.86185A>T (p.Lys28729Ter)
c.67270A>T (p.Lys22424Ter)
c.67069A>T (p.Lys22357Ter)
c.66694A>T (p.Lys22232Ter)
c.93889A>T (p.Lys31297Ter)
c.88966A>T (p.Lys29656Ter)
n.447-23563T>A
n.2043+5376T>A
c.92986A>T (p.Lys30996Ter)
c.66880A>T (p.Lys22294Ter)
c.66739A>T (p.Lys22247Ter)
c.92782A>T (p.Lys30928Ter)
c.88180A>T (p.Lys29394Ter)
c.88177A>T (p.Lys29393Ter)
c.85219A>T (p.Lys28407Ter)
c.66835A>T (p.Lys22279Ter)
c.88330A>T (p.Lys29444Ter)
c.88327A>T (p.Lys29443Ter)
c.87760A>T (p.Lys29254Ter)
c.85102A>T (p.Lys28368Ter)
c.85021A>T (p.Lys28341Ter)
c.66784A>T (p.Lys22262Ter)
c.56638A>T (p.Lys18880Ter)
2g.178547737T>CCA349479898TTN,TTN-AS1c.86185A>G (p.Lys28729Glu)
c.67270A>G (p.Lys22424Glu)
c.67069A>G (p.Lys22357Glu)
c.66694A>G (p.Lys22232Glu)
c.93889A>G (p.Lys31297Glu)
c.88966A>G (p.Lys29656Glu)
n.447-23563T>C
n.2043+5376T>C
c.92986A>G (p.Lys30996Glu)
c.66880A>G (p.Lys22294Glu)
c.66739A>G (p.Lys22247Glu)
c.92782A>G (p.Lys30928Glu)
c.88180A>G (p.Lys29394Glu)
c.88177A>G (p.Lys29393Glu)
c.85219A>G (p.Lys28407Glu)
c.66835A>G (p.Lys22279Glu)
c.88330A>G (p.Lys29444Glu)
c.88327A>G (p.Lys29443Glu)
c.87760A>G (p.Lys29254Glu)
c.85102A>G (p.Lys28368Glu)
c.85021A>G (p.Lys28341Glu)
c.66784A>G (p.Lys22262Glu)
c.56638A>G (p.Lys18880Glu)
2g.178547737T>GCA349479900TTN,TTN-AS1c.86185A>C (p.Lys28729Gln)
c.67270A>C (p.Lys22424Gln)
c.67069A>C (p.Lys22357Gln)
c.66694A>C (p.Lys22232Gln)
c.93889A>C (p.Lys31297Gln)
c.88966A>C (p.Lys29656Gln)
n.447-23563T>G
n.2043+5376T>G
c.92986A>C (p.Lys30996Gln)
c.66880A>C (p.Lys22294Gln)
c.66739A>C (p.Lys22247Gln)
c.92782A>C (p.Lys30928Gln)
c.88180A>C (p.Lys29394Gln)
c.88177A>C (p.Lys29393Gln)
c.85219A>C (p.Lys28407Gln)
c.66835A>C (p.Lys22279Gln)
c.88330A>C (p.Lys29444Gln)
c.88327A>C (p.Lys29443Gln)
c.87760A>C (p.Lys29254Gln)
c.85102A>C (p.Lys28368Gln)
c.85021A>C (p.Lys28341Gln)
c.66784A>C (p.Lys22262Gln)
c.56638A>C (p.Lys18880Gln)
2g.178547738A>CCA430242870TTN,TTN-AS1c.86184T>G (p.Val28728=)
c.67269T>G (p.Val22423=)
c.67068T>G (p.Val22356=)
c.66693T>G (p.Val22231=)
c.93888T>G (p.Val31296=)
c.88965T>G (p.Val29655=)
n.447-23562A>C
n.2043+5377A>C
c.92985T>G (p.Val30995=)
c.66879T>G (p.Val22293=)
c.66738T>G (p.Val22246=)
c.92781T>G (p.Val30927=)
c.88179T>G (p.Val29393=)
c.88176T>G (p.Val29392=)
c.85218T>G (p.Val28406=)
c.66834T>G (p.Val22278=)
c.88329T>G (p.Val29443=)
c.88326T>G (p.Val29442=)
c.87759T>G (p.Val29253=)
c.85101T>G (p.Val28367=)
c.85020T>G (p.Val28340=)
c.66783T>G (p.Val22261=)
c.56637T>G (p.Val18879=)
2g.178547738A>GCA430242871TTN,TTN-AS1c.86184T>C (p.Val28728=)
c.67269T>C (p.Val22423=)
c.67068T>C (p.Val22356=)
c.66693T>C (p.Val22231=)
c.93888T>C (p.Val31296=)
c.88965T>C (p.Val29655=)
n.447-23562A>G
n.2043+5377A>G
c.92985T>C (p.Val30995=)
c.66879T>C (p.Val22293=)
c.66738T>C (p.Val22246=)
c.92781T>C (p.Val30927=)
c.88179T>C (p.Val29393=)
c.88176T>C (p.Val29392=)
c.85218T>C (p.Val28406=)
c.66834T>C (p.Val22278=)
c.88329T>C (p.Val29443=)
c.88326T>C (p.Val29442=)
c.87759T>C (p.Val29253=)
c.85101T>C (p.Val28367=)
c.85020T>C (p.Val28340=)
c.66783T>C (p.Val22261=)
c.56637T>C (p.Val18879=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178547738A>TCA430242869TTN,TTN-AS1c.86184T>A (p.Val28728=)
c.67269T>A (p.Val22423=)
c.67068T>A (p.Val22356=)
c.66693T>A (p.Val22231=)
c.93888T>A (p.Val31296=)
c.88965T>A (p.Val29655=)
n.447-23562A>T
n.2043+5377A>T
c.92985T>A (p.Val30995=)
c.66879T>A (p.Val22293=)
c.66738T>A (p.Val22246=)
c.92781T>A (p.Val30927=)
c.88179T>A (p.Val29393=)
c.88176T>A (p.Val29392=)
c.85218T>A (p.Val28406=)
c.66834T>A (p.Val22278=)
c.88329T>A (p.Val29443=)
c.88326T>A (p.Val29442=)
c.87759T>A (p.Val29253=)
c.85101T>A (p.Val28367=)
c.85020T>A (p.Val28340=)
c.66783T>A (p.Val22261=)
c.56637T>A (p.Val18879=)
2g.178547739A>CCA349479904TTN,TTN-AS1c.86183T>G (p.Val28728Gly)
c.67268T>G (p.Val22423Gly)
c.67067T>G (p.Val22356Gly)
c.66692T>G (p.Val22231Gly)
c.93887T>G (p.Val31296Gly)
c.88964T>G (p.Val29655Gly)
n.447-23561A>C
n.2043+5378A>C
c.92984T>G (p.Val30995Gly)
c.66878T>G (p.Val22293Gly)
c.66737T>G (p.Val22246Gly)
c.92780T>G (p.Val30927Gly)
c.88178T>G (p.Val29393Gly)
c.88175T>G (p.Val29392Gly)
c.85217T>G (p.Val28406Gly)
c.66833T>G (p.Val22278Gly)
c.88328T>G (p.Val29443Gly)
c.88325T>G (p.Val29442Gly)
c.87758T>G (p.Val29253Gly)
c.85100T>G (p.Val28367Gly)
c.85019T>G (p.Val28340Gly)
c.66782T>G (p.Val22261Gly)
c.56636T>G (p.Val18879Gly)
2g.178547739A>GCA349479907TTN,TTN-AS1c.86183T>C (p.Val28728Ala)
c.67268T>C (p.Val22423Ala)
c.67067T>C (p.Val22356Ala)
c.66692T>C (p.Val22231Ala)
c.93887T>C (p.Val31296Ala)
c.88964T>C (p.Val29655Ala)
n.447-23561A>G
n.2043+5378A>G
c.92984T>C (p.Val30995Ala)
c.66878T>C (p.Val22293Ala)
c.66737T>C (p.Val22246Ala)
c.92780T>C (p.Val30927Ala)
c.88178T>C (p.Val29393Ala)
c.88175T>C (p.Val29392Ala)
c.85217T>C (p.Val28406Ala)
c.66833T>C (p.Val22278Ala)
c.88328T>C (p.Val29443Ala)
c.88325T>C (p.Val29442Ala)
c.87758T>C (p.Val29253Ala)
c.85100T>C (p.Val28367Ala)
c.85019T>C (p.Val28340Ala)
c.66782T>C (p.Val22261Ala)
c.56636T>C (p.Val18879Ala)
2g.178547739A>TCA349479909TTN,TTN-AS1c.86183T>A (p.Val28728Asp)
c.67268T>A (p.Val22423Asp)
c.67067T>A (p.Val22356Asp)
c.66692T>A (p.Val22231Asp)
c.93887T>A (p.Val31296Asp)
c.88964T>A (p.Val29655Asp)
n.447-23561A>T
n.2043+5378A>T
c.92984T>A (p.Val30995Asp)
c.66878T>A (p.Val22293Asp)
c.66737T>A (p.Val22246Asp)
c.92780T>A (p.Val30927Asp)
c.88178T>A (p.Val29393Asp)
c.88175T>A (p.Val29392Asp)
c.85217T>A (p.Val28406Asp)
c.66833T>A (p.Val22278Asp)
c.88328T>A (p.Val29443Asp)
c.88325T>A (p.Val29442Asp)
c.87758T>A (p.Val29253Asp)
c.85100T>A (p.Val28367Asp)
c.85019T>A (p.Val28340Asp)
c.66782T>A (p.Val22261Asp)
c.56636T>A (p.Val18879Asp)
2g.178547739_178547745delinsACACCAGCA1310524219TTN,TTN-AS1c.86177_86183delinsCTGGTGT (p.Ala28726=)
c.67262_67268delinsCTGGTGT (p.Ala22421=)
c.67061_67067delinsCTGGTGT (p.Ala22354=)
c.66686_66692delinsCTGGTGT (p.Ala22229=)
c.93881_93887delinsCTGGTGT (p.Ala31294=)
c.88958_88964delinsCTGGTGT (p.Ala29653=)
n.447-23561_447-23555delinsACACCAG
n.2043+5378_2043+5384delinsACACCAG
c.92978_92984delinsCTGGTGT (p.Ala30993=)
c.66872_66878delinsCTGGTGT (p.Ala22291=)
c.66731_66737delinsCTGGTGT (p.Ala22244=)
c.92774_92780delinsCTGGTGT (p.Ala30925=)
c.88172_88178delinsCTGGTGT (p.Ala29391=)
c.88169_88175delinsCTGGTGT (p.Ala29390=)
c.85211_85217delinsCTGGTGT (p.Ala28404=)
c.66827_66833delinsCTGGTGT (p.Ala22276=)
c.88322_88328delinsCTGGTGT (p.Ala29441=)
c.88319_88325delinsCTGGTGT (p.Ala29440=)
c.87752_87758delinsCTGGTGT (p.Ala29251=)
c.85094_85100delinsCTGGTGT (p.Ala28365=)
c.85013_85019delinsCTGGTGT (p.Ala28338=)
c.66776_66782delinsCTGGTGT (p.Ala22259=)
c.56630_56636delinsCTGGTGT (p.Ala18877=)
2g.178547740C>ACA349479917TTN,TTN-AS1c.86182G>T (p.Val28728Phe)
c.67267G>T (p.Val22423Phe)
c.67066G>T (p.Val22356Phe)
c.66691G>T (p.Val22231Phe)
c.93886G>T (p.Val31296Phe)
c.88963G>T (p.Val29655Phe)
n.447-23560C>A
n.2043+5379C>A
c.92983G>T (p.Val30995Phe)
c.66877G>T (p.Val22293Phe)
c.66736G>T (p.Val22246Phe)
c.92779G>T (p.Val30927Phe)
c.88177G>T (p.Val29393Phe)
c.88174G>T (p.Val29392Phe)
c.85216G>T (p.Val28406Phe)
c.66832G>T (p.Val22278Phe)
c.88327G>T (p.Val29443Phe)
c.88324G>T (p.Val29442Phe)
c.87757G>T (p.Val29253Phe)
c.85099G>T (p.Val28367Phe)
c.85018G>T (p.Val28340Phe)
c.66781G>T (p.Val22261Phe)
c.56635G>T (p.Val18879Phe)
2g.178547740C=CA1310524220TTN,TTN-AS1c.86182G= (p.Val28728=)
c.67267G= (p.Val22423=)
c.67066G= (p.Val22356=)
c.66691G= (p.Val22231=)
c.93886G= (p.Val31296=)
c.88963G= (p.Val29655=)
n.447-23560C=
n.2043+5379C=
c.92983G= (p.Val30995=)
c.66877G= (p.Val22293=)
c.66736G= (p.Val22246=)
c.92779G= (p.Val30927=)
c.88177G= (p.Val29393=)
c.88174G= (p.Val29392=)
c.85216G= (p.Val28406=)
c.66832G= (p.Val22278=)
c.88327G= (p.Val29443=)
c.88324G= (p.Val29442=)
c.87757G= (p.Val29253=)
c.85099G= (p.Val28367=)
c.85018G= (p.Val28340=)
c.66781G= (p.Val22261=)
c.56635G= (p.Val18879=)
2g.178547740C>GCA349479914TTN,TTN-AS1c.86182G>C (p.Val28728Leu)
c.67267G>C (p.Val22423Leu)
c.67066G>C (p.Val22356Leu)
c.66691G>C (p.Val22231Leu)
c.93886G>C (p.Val31296Leu)
c.88963G>C (p.Val29655Leu)
n.447-23560C>G
n.2043+5379C>G
c.92983G>C (p.Val30995Leu)
c.66877G>C (p.Val22293Leu)
c.66736G>C (p.Val22246Leu)
c.92779G>C (p.Val30927Leu)
c.88177G>C (p.Val29393Leu)
c.88174G>C (p.Val29392Leu)
c.85216G>C (p.Val28406Leu)
c.66832G>C (p.Val22278Leu)
c.88327G>C (p.Val29443Leu)
c.88324G>C (p.Val29442Leu)
c.87757G>C (p.Val29253Leu)
c.85099G>C (p.Val28367Leu)
c.85018G>C (p.Val28340Leu)
c.66781G>C (p.Val22261Leu)
c.56635G>C (p.Val18879Leu)
2g.178547740C>TCA310926TTN,TTN-AS1c.86182G>A (p.Val28728Ile)
c.67267G>A (p.Val22423Ile)
c.67066G>A (p.Val22356Ile)
c.66691G>A (p.Val22231Ile)
c.93886G>A (p.Val31296Ile)
c.88963G>A (p.Val29655Ile)
n.447-23560C>T
n.2043+5379C>T
c.92983G>A (p.Val30995Ile)
c.66877G>A (p.Val22293Ile)
c.66736G>A (p.Val22246Ile)
c.92779G>A (p.Val30927Ile)
c.88177G>A (p.Val29393Ile)
c.88174G>A (p.Val29392Ile)
c.85216G>A (p.Val28406Ile)
c.66832G>A (p.Val22278Ile)
c.88327G>A (p.Val29443Ile)
c.88324G>A (p.Val29442Ile)
c.87757G>A (p.Val29253Ile)
c.85099G>A (p.Val28367Ile)
c.85018G>A (p.Val28340Ile)
c.66781G>A (p.Val22261Ile)
c.56635G>A (p.Val18879Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178547741_178547746delCA1987230TTN,TTN-AS1c.86177_86182del (p.Ala28726_Gly28727del)
c.67262_67267del (p.Ala22421_Gly22422del)
c.67061_67066del (p.Ala22354_Gly22355del)
c.66686_66691del (p.Ala22229_Gly22230del)
c.93881_93886del (p.Ala31294_Gly31295del)
c.88958_88963del (p.Ala29653_Gly29654del)
n.447-23559_447-23554del
n.2043+5380_2043+5385del
c.92978_92983del (p.Ala30993_Gly30994del)
c.66872_66877del (p.Ala22291_Gly22292del)
c.66731_66736del (p.Ala22244_Gly22245del)
c.92774_92779del (p.Ala30925_Gly30926del)
c.88172_88177del (p.Ala29391_Gly29392del)
c.88169_88174del (p.Ala29390_Gly29391del)
c.85211_85216del (p.Ala28404_Gly28405del)
c.66827_66832del (p.Ala22276_Gly22277del)
c.88322_88327del (p.Ala29441_Gly29442del)
c.88319_88324del (p.Ala29440_Gly29441del)
c.87752_87757del (p.Ala29251_Gly29252del)
c.85094_85099del (p.Ala28365_Gly28366del)
c.85013_85018del (p.Ala28338_Gly28339del)
c.66776_66781del (p.Ala22259_Gly22260del)
c.56630_56635del (p.Ala18877_Gly18878del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178547741A>CCA430242876TTN,TTN-AS1c.86181T>G (p.Gly28727=)
c.67266T>G (p.Gly22422=)
c.67065T>G (p.Gly22355=)
c.66690T>G (p.Gly22230=)
c.93885T>G (p.Gly31295=)
c.88962T>G (p.Gly29654=)
n.447-23559A>C
n.2043+5380A>C
c.92982T>G (p.Gly30994=)
c.66876T>G (p.Gly22292=)
c.66735T>G (p.Gly22245=)
c.92778T>G (p.Gly30926=)
c.88176T>G (p.Gly29392=)
c.88173T>G (p.Gly29391=)
c.85215T>G (p.Gly28405=)
c.66831T>G (p.Gly22277=)
c.88326T>G (p.Gly29442=)
c.88323T>G (p.Gly29441=)
c.87756T>G (p.Gly29252=)
c.85098T>G (p.Gly28366=)
c.85017T>G (p.Gly28339=)
c.66780T>G (p.Gly22260=)
c.56634T>G (p.Gly18878=)
2g.178547741A>GCA430242877TTN,TTN-AS1c.86181T>C (p.Gly28727=)
c.67266T>C (p.Gly22422=)
c.67065T>C (p.Gly22355=)
c.66690T>C (p.Gly22230=)
c.93885T>C (p.Gly31295=)
c.88962T>C (p.Gly29654=)
n.447-23559A>G
n.2043+5380A>G
c.92982T>C (p.Gly30994=)
c.66876T>C (p.Gly22292=)
c.66735T>C (p.Gly22245=)
c.92778T>C (p.Gly30926=)
c.88176T>C (p.Gly29392=)
c.88173T>C (p.Gly29391=)
c.85215T>C (p.Gly28405=)
c.66831T>C (p.Gly22277=)
c.88326T>C (p.Gly29442=)
c.88323T>C (p.Gly29441=)
c.87756T>C (p.Gly29252=)
c.85098T>C (p.Gly28366=)
c.85017T>C (p.Gly28339=)
c.66780T>C (p.Gly22260=)
c.56634T>C (p.Gly18878=)
 ClinVar
2g.178547741A>TCA430242878TTN,TTN-AS1c.86181T>A (p.Gly28727=)
c.67266T>A (p.Gly22422=)
c.67065T>A (p.Gly22355=)
c.66690T>A (p.Gly22230=)
c.93885T>A (p.Gly31295=)
c.88962T>A (p.Gly29654=)
n.447-23559A>T
n.2043+5380A>T
c.92982T>A (p.Gly30994=)
c.66876T>A (p.Gly22292=)
c.66735T>A (p.Gly22245=)
c.92778T>A (p.Gly30926=)
c.88176T>A (p.Gly29392=)
c.88173T>A (p.Gly29391=)
c.85215T>A (p.Gly28405=)
c.66831T>A (p.Gly22277=)
c.88326T>A (p.Gly29442=)
c.88323T>A (p.Gly29441=)
c.87756T>A (p.Gly29252=)
c.85098T>A (p.Gly28366=)
c.85017T>A (p.Gly28339=)
c.66780T>A (p.Gly22260=)
c.56634T>A (p.Gly18878=)
2g.178547742C>ACA349479920TTN,TTN-AS1c.86180G>T (p.Gly28727Val)
c.67265G>T (p.Gly22422Val)
c.67064G>T (p.Gly22355Val)
c.66689G>T (p.Gly22230Val)
c.93884G>T (p.Gly31295Val)
c.88961G>T (p.Gly29654Val)
n.447-23558C>A
n.2043+5381C>A
c.92981G>T (p.Gly30994Val)
c.66875G>T (p.Gly22292Val)
c.66734G>T (p.Gly22245Val)
c.92777G>T (p.Gly30926Val)
c.88175G>T (p.Gly29392Val)
c.88172G>T (p.Gly29391Val)
c.85214G>T (p.Gly28405Val)
c.66830G>T (p.Gly22277Val)
c.88325G>T (p.Gly29442Val)
c.88322G>T (p.Gly29441Val)
c.87755G>T (p.Gly29252Val)
c.85097G>T (p.Gly28366Val)
c.85016G>T (p.Gly28339Val)
c.66779G>T (p.Gly22260Val)
c.56633G>T (p.Gly18878Val)
2g.178547742C=CA1310524221TTN,TTN-AS1c.86180G= (p.Gly28727=)
c.67265G= (p.Gly22422=)
c.67064G= (p.Gly22355=)
c.66689G= (p.Gly22230=)
c.93884G= (p.Gly31295=)
c.88961G= (p.Gly29654=)
n.447-23558C=
n.2043+5381C=
c.92981G= (p.Gly30994=)
c.66875G= (p.Gly22292=)
c.66734G= (p.Gly22245=)
c.92777G= (p.Gly30926=)
c.88175G= (p.Gly29392=)
c.88172G= (p.Gly29391=)
c.85214G= (p.Gly28405=)
c.66830G= (p.Gly22277=)
c.88325G= (p.Gly29442=)
c.88322G= (p.Gly29441=)
c.87755G= (p.Gly29252=)
c.85097G= (p.Gly28366=)
c.85016G= (p.Gly28339=)
c.66779G= (p.Gly22260=)
c.56633G= (p.Gly18878=)
2g.178547742C>GCA349479923TTN,TTN-AS1c.86180G>C (p.Gly28727Ala)
c.67265G>C (p.Gly22422Ala)
c.67064G>C (p.Gly22355Ala)
c.66689G>C (p.Gly22230Ala)
c.93884G>C (p.Gly31295Ala)
c.88961G>C (p.Gly29654Ala)
n.447-23558C>G
n.2043+5381C>G
c.92981G>C (p.Gly30994Ala)
c.66875G>C (p.Gly22292Ala)
c.66734G>C (p.Gly22245Ala)
c.92777G>C (p.Gly30926Ala)
c.88175G>C (p.Gly29392Ala)
c.88172G>C (p.Gly29391Ala)
c.85214G>C (p.Gly28405Ala)
c.66830G>C (p.Gly22277Ala)
c.88325G>C (p.Gly29442Ala)
c.88322G>C (p.Gly29441Ala)
c.87755G>C (p.Gly29252Ala)
c.85097G>C (p.Gly28366Ala)
c.85016G>C (p.Gly28339Ala)
c.66779G>C (p.Gly22260Ala)
c.56633G>C (p.Gly18878Ala)
2g.178547742C>TCA349479928TTN,TTN-AS1c.86180G>A (p.Gly28727Asp)
c.67265G>A (p.Gly22422Asp)
c.67064G>A (p.Gly22355Asp)
c.66689G>A (p.Gly22230Asp)
c.93884G>A (p.Gly31295Asp)
c.88961G>A (p.Gly29654Asp)
n.447-23558C>T
n.2043+5381C>T
c.92981G>A (p.Gly30994Asp)
c.66875G>A (p.Gly22292Asp)
c.66734G>A (p.Gly22245Asp)
c.92777G>A (p.Gly30926Asp)
c.88175G>A (p.Gly29392Asp)
c.88172G>A (p.Gly29391Asp)
c.85214G>A (p.Gly28405Asp)
c.66830G>A (p.Gly22277Asp)
c.88325G>A (p.Gly29442Asp)
c.88322G>A (p.Gly29441Asp)
c.87755G>A (p.Gly29252Asp)
c.85097G>A (p.Gly28366Asp)
c.85016G>A (p.Gly28339Asp)
c.66779G>A (p.Gly22260Asp)
c.56633G>A (p.Gly18878Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.178547743C>ACA349479935TTN,TTN-AS1c.86179G>T (p.Gly28727Cys)
c.67264G>T (p.Gly22422Cys)
c.67063G>T (p.Gly22355Cys)
c.66688G>T (p.Gly22230Cys)
c.93883G>T (p.Gly31295Cys)
c.88960G>T (p.Gly29654Cys)
n.447-23557C>A
n.2043+5382C>A
c.92980G>T (p.Gly30994Cys)
c.66874G>T (p.Gly22292Cys)
c.66733G>T (p.Gly22245Cys)
c.92776G>T (p.Gly30926Cys)
c.88174G>T (p.Gly29392Cys)
c.88171G>T (p.Gly29391Cys)
c.85213G>T (p.Gly28405Cys)
c.66829G>T (p.Gly22277Cys)
c.88324G>T (p.Gly29442Cys)
c.88321G>T (p.Gly29441Cys)
c.87754G>T (p.Gly29252Cys)
c.85096G>T (p.Gly28366Cys)
c.85015G>T (p.Gly28339Cys)
c.66778G>T (p.Gly22260Cys)
c.56632G>T (p.Gly18878Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.178547743C=CA1310524222TTN,TTN-AS1c.86179G= (p.Gly28727=)
c.67264G= (p.Gly22422=)
c.67063G= (p.Gly22355=)
c.66688G= (p.Gly22230=)
c.93883G= (p.Gly31295=)
c.88960G= (p.Gly29654=)
n.447-23557C=
n.2043+5382C=
c.92980G= (p.Gly30994=)
c.66874G= (p.Gly22292=)
c.66733G= (p.Gly22245=)
c.92776G= (p.Gly30926=)
c.88174G= (p.Gly29392=)
c.88171G= (p.Gly29391=)
c.85213G= (p.Gly28405=)
c.66829G= (p.Gly22277=)
c.88324G= (p.Gly29442=)
c.88321G= (p.Gly29441=)
c.87754G= (p.Gly29252=)
c.85096G= (p.Gly28366=)
c.85015G= (p.Gly28339=)
c.66778G= (p.Gly22260=)
c.56632G= (p.Gly18878=)
2g.178547743C>GCA349479936TTN,TTN-AS1c.86179G>C (p.Gly28727Arg)
c.67264G>C (p.Gly22422Arg)
c.67063G>C (p.Gly22355Arg)
c.66688G>C (p.Gly22230Arg)
c.93883G>C (p.Gly31295Arg)
c.88960G>C (p.Gly29654Arg)
n.447-23557C>G
n.2043+5382C>G
c.92980G>C (p.Gly30994Arg)
c.66874G>C (p.Gly22292Arg)
c.66733G>C (p.Gly22245Arg)
c.92776G>C (p.Gly30926Arg)
c.88174G>C (p.Gly29392Arg)
c.88171G>C (p.Gly29391Arg)
c.85213G>C (p.Gly28405Arg)
c.66829G>C (p.Gly22277Arg)
c.88324G>C (p.Gly29442Arg)
c.88321G>C (p.Gly29441Arg)
c.87754G>C (p.Gly29252Arg)
c.85096G>C (p.Gly28366Arg)
c.85015G>C (p.Gly28339Arg)
c.66778G>C (p.Gly22260Arg)
c.56632G>C (p.Gly18878Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.178547743C>TCA349479937TTN,TTN-AS1c.86179G>A (p.Gly28727Ser)
c.67264G>A (p.Gly22422Ser)
c.67063G>A (p.Gly22355Ser)
c.66688G>A (p.Gly22230Ser)
c.93883G>A (p.Gly31295Ser)
c.88960G>A (p.Gly29654Ser)
n.447-23557C>T
n.2043+5382C>T
c.92980G>A (p.Gly30994Ser)
c.66874G>A (p.Gly22292Ser)
c.66733G>A (p.Gly22245Ser)
c.92776G>A (p.Gly30926Ser)
c.88174G>A (p.Gly29392Ser)
c.88171G>A (p.Gly29391Ser)
c.85213G>A (p.Gly28405Ser)
c.66829G>A (p.Gly22277Ser)
c.88324G>A (p.Gly29442Ser)
c.88321G>A (p.Gly29441Ser)
c.87754G>A (p.Gly29252Ser)
c.85096G>A (p.Gly28366Ser)
c.85015G>A (p.Gly28339Ser)
c.66778G>A (p.Gly22260Ser)
c.56632G>A (p.Gly18878Ser)
2g.178547744A=CA1310524223TTN,TTN-AS1c.86178T= (p.Ala28726=)
c.67263T= (p.Ala22421=)
c.67062T= (p.Ala22354=)
c.66687T= (p.Ala22229=)
c.93882T= (p.Ala31294=)
c.88959T= (p.Ala29653=)
n.447-23556A=
n.2043+5383A=
c.92979T= (p.Ala30993=)
c.66873T= (p.Ala22291=)
c.66732T= (p.Ala22244=)
c.92775T= (p.Ala30925=)
c.88173T= (p.Ala29391=)
c.88170T= (p.Ala29390=)
c.85212T= (p.Ala28404=)
c.66828T= (p.Ala22276=)
c.88323T= (p.Ala29441=)
c.88320T= (p.Ala29440=)
c.87753T= (p.Ala29251=)
c.85095T= (p.Ala28365=)
c.85014T= (p.Ala28338=)
c.66777T= (p.Ala22259=)
c.56631T= (p.Ala18877=)
2g.178547744A>CCA430242880TTN,TTN-AS1c.86178T>G (p.Ala28726=)
c.67263T>G (p.Ala22421=)
c.67062T>G (p.Ala22354=)
c.66687T>G (p.Ala22229=)
c.93882T>G (p.Ala31294=)
c.88959T>G (p.Ala29653=)
n.447-23556A>C
n.2043+5383A>C
c.92979T>G (p.Ala30993=)
c.66873T>G (p.Ala22291=)
c.66732T>G (p.Ala22244=)
c.92775T>G (p.Ala30925=)
c.88173T>G (p.Ala29391=)
c.88170T>G (p.Ala29390=)
c.85212T>G (p.Ala28404=)
c.66828T>G (p.Ala22276=)
c.88323T>G (p.Ala29441=)
c.88320T>G (p.Ala29440=)
c.87753T>G (p.Ala29251=)
c.85095T>G (p.Ala28365=)
c.85014T>G (p.Ala28338=)
c.66777T>G (p.Ala22259=)
c.56631T>G (p.Ala18877=)
 ClinVar gnomAD v4
2g.178547744A>GCA430242881TTN,TTN-AS1c.86178T>C (p.Ala28726=)
c.67263T>C (p.Ala22421=)
c.67062T>C (p.Ala22354=)
c.66687T>C (p.Ala22229=)
c.93882T>C (p.Ala31294=)
c.88959T>C (p.Ala29653=)
n.447-23556A>G
n.2043+5383A>G
c.92979T>C (p.Ala30993=)
c.66873T>C (p.Ala22291=)
c.66732T>C (p.Ala22244=)
c.92775T>C (p.Ala30925=)
c.88173T>C (p.Ala29391=)
c.88170T>C (p.Ala29390=)
c.85212T>C (p.Ala28404=)
c.66828T>C (p.Ala22276=)
c.88323T>C (p.Ala29441=)
c.88320T>C (p.Ala29440=)
c.87753T>C (p.Ala29251=)
c.85095T>C (p.Ala28365=)
c.85014T>C (p.Ala28338=)
c.66777T>C (p.Ala22259=)
c.56631T>C (p.Ala18877=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched