Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178569415G>ACA10581841TTN,TTN-AS1c.69013C>T (p.Arg23005Ter)
c.50098C>T (p.Arg16700Ter)
c.49897C>T (p.Arg16633Ter)
c.49522C>T (p.Arg16508Ter)
c.76717C>T (p.Arg25573Ter)
c.71794C>T (p.Arg23932Ter)
n.447-1885G>A
n.2044-13157G>A
c.75814C>T (p.Arg25272Ter)
c.49708C>T (p.Arg16570Ter)
c.49567C>T (p.Arg16523Ter)
c.75610C>T (p.Arg25204Ter)
c.71008C>T (p.Arg23670Ter)
c.71005C>T (p.Arg23669Ter)
c.68047C>T (p.Arg22683Ter)
c.49663C>T (p.Arg16555Ter)
c.71158C>T (p.Arg23720Ter)
c.71155C>T (p.Arg23719Ter)
c.70588C>T (p.Arg23530Ter)
c.67930C>T (p.Arg22644Ter)
c.67849C>T (p.Arg22617Ter)
c.49612C>T (p.Arg16538Ter)
c.39466C>T (p.Arg13156Ter)
 ClinVar dbSNP gnomAD v4
2g.178569415G>CCA349614295TTN,TTN-AS1c.69013C>G (p.Arg23005Gly)
c.50098C>G (p.Arg16700Gly)
c.49897C>G (p.Arg16633Gly)
c.49522C>G (p.Arg16508Gly)
c.76717C>G (p.Arg25573Gly)
c.71794C>G (p.Arg23932Gly)
n.447-1885G>C
n.2044-13157G>C
c.75814C>G (p.Arg25272Gly)
c.49708C>G (p.Arg16570Gly)
c.49567C>G (p.Arg16523Gly)
c.75610C>G (p.Arg25204Gly)
c.71008C>G (p.Arg23670Gly)
c.71005C>G (p.Arg23669Gly)
c.68047C>G (p.Arg22683Gly)
c.49663C>G (p.Arg16555Gly)
c.71158C>G (p.Arg23720Gly)
c.71155C>G (p.Arg23719Gly)
c.70588C>G (p.Arg23530Gly)
c.67930C>G (p.Arg22644Gly)
c.67849C>G (p.Arg22617Gly)
c.49612C>G (p.Arg16538Gly)
c.39466C>G (p.Arg13156Gly)
2g.178569415G=CA1310530429TTN,TTN-AS1c.69013C= (p.Arg23005=)
c.50098C= (p.Arg16700=)
c.49897C= (p.Arg16633=)
c.49522C= (p.Arg16508=)
c.76717C= (p.Arg25573=)
c.71794C= (p.Arg23932=)
n.447-1885G=
n.2044-13157G=
c.75814C= (p.Arg25272=)
c.49708C= (p.Arg16570=)
c.49567C= (p.Arg16523=)
c.75610C= (p.Arg25204=)
c.71008C= (p.Arg23670=)
c.71005C= (p.Arg23669=)
c.68047C= (p.Arg22683=)
c.49663C= (p.Arg16555=)
c.71158C= (p.Arg23720=)
c.71155C= (p.Arg23719=)
c.70588C= (p.Arg23530=)
c.67930C= (p.Arg22644=)
c.67849C= (p.Arg22617=)
c.49612C= (p.Arg16538=)
c.39466C= (p.Arg13156=)
2g.178569415G>TCA1989869TTN,TTN-AS1c.69013C>A (p.Arg23005=)
c.50098C>A (p.Arg16700=)
c.49897C>A (p.Arg16633=)
c.49522C>A (p.Arg16508=)
c.76717C>A (p.Arg25573=)
c.71794C>A (p.Arg23932=)
n.447-1885G>T
n.2044-13157G>T
c.75814C>A (p.Arg25272=)
c.49708C>A (p.Arg16570=)
c.49567C>A (p.Arg16523=)
c.75610C>A (p.Arg25204=)
c.71008C>A (p.Arg23670=)
c.71005C>A (p.Arg23669=)
c.68047C>A (p.Arg22683=)
c.49663C>A (p.Arg16555=)
c.71158C>A (p.Arg23720=)
c.71155C>A (p.Arg23719=)
c.70588C>A (p.Arg23530=)
c.67930C>A (p.Arg22644=)
c.67849C>A (p.Arg22617=)
c.49612C>A (p.Arg16538=)
c.39466C>A (p.Arg13156=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178569416G>ACA430253817TTN,TTN-AS1c.69012C>T (p.Asn23004=)
c.50097C>T (p.Asn16699=)
c.49896C>T (p.Asn16632=)
c.49521C>T (p.Asn16507=)
c.76716C>T (p.Asn25572=)
c.71793C>T (p.Asn23931=)
n.447-1884G>A
n.2044-13156G>A
c.75813C>T (p.Asn25271=)
c.49707C>T (p.Asn16569=)
c.49566C>T (p.Asn16522=)
c.75609C>T (p.Asn25203=)
c.71007C>T (p.Asn23669=)
c.71004C>T (p.Asn23668=)
c.68046C>T (p.Asn22682=)
c.49662C>T (p.Asn16554=)
c.71157C>T (p.Asn23719=)
c.71154C>T (p.Asn23718=)
c.70587C>T (p.Asn23529=)
c.67929C>T (p.Asn22643=)
c.67848C>T (p.Asn22616=)
c.49611C>T (p.Asn16537=)
c.39465C>T (p.Asn13155=)
2g.178569416G>CCA349614299TTN,TTN-AS1c.69012C>G (p.Asn23004Lys)
c.50097C>G (p.Asn16699Lys)
c.49896C>G (p.Asn16632Lys)
c.49521C>G (p.Asn16507Lys)
c.76716C>G (p.Asn25572Lys)
c.71793C>G (p.Asn23931Lys)
n.447-1884G>C
n.2044-13156G>C
c.75813C>G (p.Asn25271Lys)
c.49707C>G (p.Asn16569Lys)
c.49566C>G (p.Asn16522Lys)
c.75609C>G (p.Asn25203Lys)
c.71007C>G (p.Asn23669Lys)
c.71004C>G (p.Asn23668Lys)
c.68046C>G (p.Asn22682Lys)
c.49662C>G (p.Asn16554Lys)
c.71157C>G (p.Asn23719Lys)
c.71154C>G (p.Asn23718Lys)
c.70587C>G (p.Asn23529Lys)
c.67929C>G (p.Asn22643Lys)
c.67848C>G (p.Asn22616Lys)
c.49611C>G (p.Asn16537Lys)
c.39465C>G (p.Asn13155Lys)
2g.178569416G>TCA349614300TTN,TTN-AS1c.69012C>A (p.Asn23004Lys)
c.50097C>A (p.Asn16699Lys)
c.49896C>A (p.Asn16632Lys)
c.49521C>A (p.Asn16507Lys)
c.76716C>A (p.Asn25572Lys)
c.71793C>A (p.Asn23931Lys)
n.447-1884G>T
n.2044-13156G>T
c.75813C>A (p.Asn25271Lys)
c.49707C>A (p.Asn16569Lys)
c.49566C>A (p.Asn16522Lys)
c.75609C>A (p.Asn25203Lys)
c.71007C>A (p.Asn23669Lys)
c.71004C>A (p.Asn23668Lys)
c.68046C>A (p.Asn22682Lys)
c.49662C>A (p.Asn16554Lys)
c.71157C>A (p.Asn23719Lys)
c.71154C>A (p.Asn23718Lys)
c.70587C>A (p.Asn23529Lys)
c.67929C>A (p.Asn22643Lys)
c.67848C>A (p.Asn22616Lys)
c.49611C>A (p.Asn16537Lys)
c.39465C>A (p.Asn13155Lys)
2g.178569417T>ACA349614301TTN,TTN-AS1c.69011A>T (p.Asn23004Ile)
c.50096A>T (p.Asn16699Ile)
c.49895A>T (p.Asn16632Ile)
c.49520A>T (p.Asn16507Ile)
c.76715A>T (p.Asn25572Ile)
c.71792A>T (p.Asn23931Ile)
n.447-1883T>A
n.2044-13155T>A
c.75812A>T (p.Asn25271Ile)
c.49706A>T (p.Asn16569Ile)
c.49565A>T (p.Asn16522Ile)
c.75608A>T (p.Asn25203Ile)
c.71006A>T (p.Asn23669Ile)
c.71003A>T (p.Asn23668Ile)
c.68045A>T (p.Asn22682Ile)
c.49661A>T (p.Asn16554Ile)
c.71156A>T (p.Asn23719Ile)
c.71153A>T (p.Asn23718Ile)
c.70586A>T (p.Asn23529Ile)
c.67928A>T (p.Asn22643Ile)
c.67847A>T (p.Asn22616Ile)
c.49610A>T (p.Asn16537Ile)
c.39464A>T (p.Asn13155Ile)
2g.178569417T>CCA349614303TTN,TTN-AS1c.69011A>G (p.Asn23004Ser)
c.50096A>G (p.Asn16699Ser)
c.49895A>G (p.Asn16632Ser)
c.49520A>G (p.Asn16507Ser)
c.76715A>G (p.Asn25572Ser)
c.71792A>G (p.Asn23931Ser)
n.447-1883T>C
n.2044-13155T>C
c.75812A>G (p.Asn25271Ser)
c.49706A>G (p.Asn16569Ser)
c.49565A>G (p.Asn16522Ser)
c.75608A>G (p.Asn25203Ser)
c.71006A>G (p.Asn23669Ser)
c.71003A>G (p.Asn23668Ser)
c.68045A>G (p.Asn22682Ser)
c.49661A>G (p.Asn16554Ser)
c.71156A>G (p.Asn23719Ser)
c.71153A>G (p.Asn23718Ser)
c.70586A>G (p.Asn23529Ser)
c.67928A>G (p.Asn22643Ser)
c.67847A>G (p.Asn22616Ser)
c.49610A>G (p.Asn16537Ser)
c.39464A>G (p.Asn13155Ser)
2g.178569417T>GCA349614305TTN,TTN-AS1c.69011A>C (p.Asn23004Thr)
c.50096A>C (p.Asn16699Thr)
c.49895A>C (p.Asn16632Thr)
c.49520A>C (p.Asn16507Thr)
c.76715A>C (p.Asn25572Thr)
c.71792A>C (p.Asn23931Thr)
n.447-1883T>G
n.2044-13155T>G
c.75812A>C (p.Asn25271Thr)
c.49706A>C (p.Asn16569Thr)
c.49565A>C (p.Asn16522Thr)
c.75608A>C (p.Asn25203Thr)
c.71006A>C (p.Asn23669Thr)
c.71003A>C (p.Asn23668Thr)
c.68045A>C (p.Asn22682Thr)
c.49661A>C (p.Asn16554Thr)
c.71156A>C (p.Asn23719Thr)
c.71153A>C (p.Asn23718Thr)
c.70586A>C (p.Asn23529Thr)
c.67928A>C (p.Asn22643Thr)
c.67847A>C (p.Asn22616Thr)
c.49610A>C (p.Asn16537Thr)
c.39464A>C (p.Asn13155Thr)
2g.178569418T>ACA349614307TTN,TTN-AS1c.69010A>T (p.Asn23004Tyr)
c.50095A>T (p.Asn16699Tyr)
c.49894A>T (p.Asn16632Tyr)
c.49519A>T (p.Asn16507Tyr)
c.76714A>T (p.Asn25572Tyr)
c.71791A>T (p.Asn23931Tyr)
n.447-1882T>A
n.2044-13154T>A
c.75811A>T (p.Asn25271Tyr)
c.49705A>T (p.Asn16569Tyr)
c.49564A>T (p.Asn16522Tyr)
c.75607A>T (p.Asn25203Tyr)
c.71005A>T (p.Asn23669Tyr)
c.71002A>T (p.Asn23668Tyr)
c.68044A>T (p.Asn22682Tyr)
c.49660A>T (p.Asn16554Tyr)
c.71155A>T (p.Asn23719Tyr)
c.71152A>T (p.Asn23718Tyr)
c.70585A>T (p.Asn23529Tyr)
c.67927A>T (p.Asn22643Tyr)
c.67846A>T (p.Asn22616Tyr)
c.49609A>T (p.Asn16537Tyr)
c.39463A>T (p.Asn13155Tyr)
2g.178569418T>CCA349614309TTN,TTN-AS1c.69010A>G (p.Asn23004Asp)
c.50095A>G (p.Asn16699Asp)
c.49894A>G (p.Asn16632Asp)
c.49519A>G (p.Asn16507Asp)
c.76714A>G (p.Asn25572Asp)
c.71791A>G (p.Asn23931Asp)
n.447-1882T>C
n.2044-13154T>C
c.75811A>G (p.Asn25271Asp)
c.49705A>G (p.Asn16569Asp)
c.49564A>G (p.Asn16522Asp)
c.75607A>G (p.Asn25203Asp)
c.71005A>G (p.Asn23669Asp)
c.71002A>G (p.Asn23668Asp)
c.68044A>G (p.Asn22682Asp)
c.49660A>G (p.Asn16554Asp)
c.71155A>G (p.Asn23719Asp)
c.71152A>G (p.Asn23718Asp)
c.70585A>G (p.Asn23529Asp)
c.67927A>G (p.Asn22643Asp)
c.67846A>G (p.Asn22616Asp)
c.49609A>G (p.Asn16537Asp)
c.39463A>G (p.Asn13155Asp)
2g.178569418T>GCA349614308TTN,TTN-AS1c.69010A>C (p.Asn23004His)
c.50095A>C (p.Asn16699His)
c.49894A>C (p.Asn16632His)
c.49519A>C (p.Asn16507His)
c.76714A>C (p.Asn25572His)
c.71791A>C (p.Asn23931His)
n.447-1882T>G
n.2044-13154T>G
c.75811A>C (p.Asn25271His)
c.49705A>C (p.Asn16569His)
c.49564A>C (p.Asn16522His)
c.75607A>C (p.Asn25203His)
c.71005A>C (p.Asn23669His)
c.71002A>C (p.Asn23668His)
c.68044A>C (p.Asn22682His)
c.49660A>C (p.Asn16554His)
c.71155A>C (p.Asn23719His)
c.71152A>C (p.Asn23718His)
c.70585A>C (p.Asn23529His)
c.67927A>C (p.Asn22643His)
c.67846A>C (p.Asn22616His)
c.49609A>C (p.Asn16537His)
c.39463A>C (p.Asn13155His)
2g.178569419G>ACA1989870TTN,TTN-AS1c.69009C>T (p.Val23003=)
c.50094C>T (p.Val16698=)
c.49893C>T (p.Val16631=)
c.49518C>T (p.Val16506=)
c.76713C>T (p.Val25571=)
c.71790C>T (p.Val23930=)
n.447-1881G>A
n.2044-13153G>A
c.75810C>T (p.Val25270=)
c.49704C>T (p.Val16568=)
c.49563C>T (p.Val16521=)
c.75606C>T (p.Val25202=)
c.71004C>T (p.Val23668=)
c.71001C>T (p.Val23667=)
c.68043C>T (p.Val22681=)
c.49659C>T (p.Val16553=)
c.71154C>T (p.Val23718=)
c.71151C>T (p.Val23717=)
c.70584C>T (p.Val23528=)
c.67926C>T (p.Val22642=)
c.67845C>T (p.Val22615=)
c.49608C>T (p.Val16536=)
c.39462C>T (p.Val13154=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178569419G>CCA430253831TTN,TTN-AS1c.69009C>G (p.Val23003=)
c.50094C>G (p.Val16698=)
c.49893C>G (p.Val16631=)
c.49518C>G (p.Val16506=)
c.76713C>G (p.Val25571=)
c.71790C>G (p.Val23930=)
n.447-1881G>C
n.2044-13153G>C
c.75810C>G (p.Val25270=)
c.49704C>G (p.Val16568=)
c.49563C>G (p.Val16521=)
c.75606C>G (p.Val25202=)
c.71004C>G (p.Val23668=)
c.71001C>G (p.Val23667=)
c.68043C>G (p.Val22681=)
c.49659C>G (p.Val16553=)
c.71154C>G (p.Val23718=)
c.71151C>G (p.Val23717=)
c.70584C>G (p.Val23528=)
c.67926C>G (p.Val22642=)
c.67845C>G (p.Val22615=)
c.49608C>G (p.Val16536=)
c.39462C>G (p.Val13154=)
2g.178569419G=CA1310530431TTN,TTN-AS1c.69009C= (p.Val23003=)
c.50094C= (p.Val16698=)
c.49893C= (p.Val16631=)
c.49518C= (p.Val16506=)
c.76713C= (p.Val25571=)
c.71790C= (p.Val23930=)
n.447-1881G=
n.2044-13153G=
c.75810C= (p.Val25270=)
c.49704C= (p.Val16568=)
c.49563C= (p.Val16521=)
c.75606C= (p.Val25202=)
c.71004C= (p.Val23668=)
c.71001C= (p.Val23667=)
c.68043C= (p.Val22681=)
c.49659C= (p.Val16553=)
c.71154C= (p.Val23718=)
c.71151C= (p.Val23717=)
c.70584C= (p.Val23528=)
c.67926C= (p.Val22642=)
c.67845C= (p.Val22615=)
c.49608C= (p.Val16536=)
c.39462C= (p.Val13154=)
2g.178569419G>TCA430253830TTN,TTN-AS1c.69009C>A (p.Val23003=)
c.50094C>A (p.Val16698=)
c.49893C>A (p.Val16631=)
c.49518C>A (p.Val16506=)
c.76713C>A (p.Val25571=)
c.71790C>A (p.Val23930=)
n.447-1881G>T
n.2044-13153G>T
c.75810C>A (p.Val25270=)
c.49704C>A (p.Val16568=)
c.49563C>A (p.Val16521=)
c.75606C>A (p.Val25202=)
c.71004C>A (p.Val23668=)
c.71001C>A (p.Val23667=)
c.68043C>A (p.Val22681=)
c.49659C>A (p.Val16553=)
c.71154C>A (p.Val23718=)
c.71151C>A (p.Val23717=)
c.70584C>A (p.Val23528=)
c.67926C>A (p.Val22642=)
c.67845C>A (p.Val22615=)
c.49608C>A (p.Val16536=)
c.39462C>A (p.Val13154=)
2g.178569420A>CCA349614311TTN,TTN-AS1c.69008T>G (p.Val23003Gly)
c.50093T>G (p.Val16698Gly)
c.49892T>G (p.Val16631Gly)
c.49517T>G (p.Val16506Gly)
c.76712T>G (p.Val25571Gly)
c.71789T>G (p.Val23930Gly)
n.447-1880A>C
n.2044-13152A>C
c.75809T>G (p.Val25270Gly)
c.49703T>G (p.Val16568Gly)
c.49562T>G (p.Val16521Gly)
c.75605T>G (p.Val25202Gly)
c.71003T>G (p.Val23668Gly)
c.71000T>G (p.Val23667Gly)
c.68042T>G (p.Val22681Gly)
c.49658T>G (p.Val16553Gly)
c.71153T>G (p.Val23718Gly)
c.71150T>G (p.Val23717Gly)
c.70583T>G (p.Val23528Gly)
c.67925T>G (p.Val22642Gly)
c.67844T>G (p.Val22615Gly)
c.49607T>G (p.Val16536Gly)
c.39461T>G (p.Val13154Gly)
2g.178569420A>GCA349614313TTN,TTN-AS1c.69008T>C (p.Val23003Ala)
c.50093T>C (p.Val16698Ala)
c.49892T>C (p.Val16631Ala)
c.49517T>C (p.Val16506Ala)
c.76712T>C (p.Val25571Ala)
c.71789T>C (p.Val23930Ala)
n.447-1880A>G
n.2044-13152A>G
c.75809T>C (p.Val25270Ala)
c.49703T>C (p.Val16568Ala)
c.49562T>C (p.Val16521Ala)
c.75605T>C (p.Val25202Ala)
c.71003T>C (p.Val23668Ala)
c.71000T>C (p.Val23667Ala)
c.68042T>C (p.Val22681Ala)
c.49658T>C (p.Val16553Ala)
c.71153T>C (p.Val23718Ala)
c.71150T>C (p.Val23717Ala)
c.70583T>C (p.Val23528Ala)
c.67925T>C (p.Val22642Ala)
c.67844T>C (p.Val22615Ala)
c.49607T>C (p.Val16536Ala)
c.39461T>C (p.Val13154Ala)
2g.178569420A>TCA349614315TTN,TTN-AS1c.69008T>A (p.Val23003Asp)
c.50093T>A (p.Val16698Asp)
c.49892T>A (p.Val16631Asp)
c.49517T>A (p.Val16506Asp)
c.76712T>A (p.Val25571Asp)
c.71789T>A (p.Val23930Asp)
n.447-1880A>T
n.2044-13152A>T
c.75809T>A (p.Val25270Asp)
c.49703T>A (p.Val16568Asp)
c.49562T>A (p.Val16521Asp)
c.75605T>A (p.Val25202Asp)
c.71003T>A (p.Val23668Asp)
c.71000T>A (p.Val23667Asp)
c.68042T>A (p.Val22681Asp)
c.49658T>A (p.Val16553Asp)
c.71153T>A (p.Val23718Asp)
c.71150T>A (p.Val23717Asp)
c.70583T>A (p.Val23528Asp)
c.67925T>A (p.Val22642Asp)
c.67844T>A (p.Val22615Asp)
c.49607T>A (p.Val16536Asp)
c.39461T>A (p.Val13154Asp)
2g.178569421C>ACA349614316TTN,TTN-AS1c.69007G>T (p.Val23003Phe)
c.50092G>T (p.Val16698Phe)
c.49891G>T (p.Val16631Phe)
c.49516G>T (p.Val16506Phe)
c.76711G>T (p.Val25571Phe)
c.71788G>T (p.Val23930Phe)
n.447-1879C>A
n.2044-13151C>A
c.75808G>T (p.Val25270Phe)
c.49702G>T (p.Val16568Phe)
c.49561G>T (p.Val16521Phe)
c.75604G>T (p.Val25202Phe)
c.71002G>T (p.Val23668Phe)
c.70999G>T (p.Val23667Phe)
c.68041G>T (p.Val22681Phe)
c.49657G>T (p.Val16553Phe)
c.71152G>T (p.Val23718Phe)
c.71149G>T (p.Val23717Phe)
c.70582G>T (p.Val23528Phe)
c.67924G>T (p.Val22642Phe)
c.67843G>T (p.Val22615Phe)
c.49606G>T (p.Val16536Phe)
c.39460G>T (p.Val13154Phe)
2g.178569421C=CA1310530433TTN,TTN-AS1c.69007G= (p.Val23003=)
c.50092G= (p.Val16698=)
c.49891G= (p.Val16631=)
c.49516G= (p.Val16506=)
c.76711G= (p.Val25571=)
c.71788G= (p.Val23930=)
n.447-1879C=
n.2044-13151C=
c.75808G= (p.Val25270=)
c.49702G= (p.Val16568=)
c.49561G= (p.Val16521=)
c.75604G= (p.Val25202=)
c.71002G= (p.Val23668=)
c.70999G= (p.Val23667=)
c.68041G= (p.Val22681=)
c.49657G= (p.Val16553=)
c.71152G= (p.Val23718=)
c.71149G= (p.Val23717=)
c.70582G= (p.Val23528=)
c.67924G= (p.Val22642=)
c.67843G= (p.Val22615=)
c.49606G= (p.Val16536=)
c.39460G= (p.Val13154=)
2g.178569421C>GCA349614318TTN,TTN-AS1c.69007G>C (p.Val23003Leu)
c.50092G>C (p.Val16698Leu)
c.49891G>C (p.Val16631Leu)
c.49516G>C (p.Val16506Leu)
c.76711G>C (p.Val25571Leu)
c.71788G>C (p.Val23930Leu)
n.447-1879C>G
n.2044-13151C>G
c.75808G>C (p.Val25270Leu)
c.49702G>C (p.Val16568Leu)
c.49561G>C (p.Val16521Leu)
c.75604G>C (p.Val25202Leu)
c.71002G>C (p.Val23668Leu)
c.70999G>C (p.Val23667Leu)
c.68041G>C (p.Val22681Leu)
c.49657G>C (p.Val16553Leu)
c.71152G>C (p.Val23718Leu)
c.71149G>C (p.Val23717Leu)
c.70582G>C (p.Val23528Leu)
c.67924G>C (p.Val22642Leu)
c.67843G>C (p.Val22615Leu)
c.49606G>C (p.Val16536Leu)
c.39460G>C (p.Val13154Leu)
2g.178569421C>TCA1989871TTN,TTN-AS1c.69007G>A (p.Val23003Ile)
c.50092G>A (p.Val16698Ile)
c.49891G>A (p.Val16631Ile)
c.49516G>A (p.Val16506Ile)
c.76711G>A (p.Val25571Ile)
c.71788G>A (p.Val23930Ile)
n.447-1879C>T
n.2044-13151C>T
c.75808G>A (p.Val25270Ile)
c.49702G>A (p.Val16568Ile)
c.49561G>A (p.Val16521Ile)
c.75604G>A (p.Val25202Ile)
c.71002G>A (p.Val23668Ile)
c.70999G>A (p.Val23667Ile)
c.68041G>A (p.Val22681Ile)
c.49657G>A (p.Val16553Ile)
c.71152G>A (p.Val23718Ile)
c.71149G>A (p.Val23717Ile)
c.70582G>A (p.Val23528Ile)
c.67924G>A (p.Val22642Ile)
c.67843G>A (p.Val22615Ile)
c.49606G>A (p.Val16536Ile)
c.39460G>A (p.Val13154Ile)
 ClinVar dbSNP ExAC gnomAD v2
2g.178569422A=CA1310530434TTN,TTN-AS1c.69006T= (p.Asn23002=)
c.50091T= (p.Asn16697=)
c.49890T= (p.Asn16630=)
c.49515T= (p.Asn16505=)
c.76710T= (p.Asn25570=)
c.71787T= (p.Asn23929=)
n.447-1878A=
n.2044-13150A=
c.75807T= (p.Asn25269=)
c.49701T= (p.Asn16567=)
c.49560T= (p.Asn16520=)
c.75603T= (p.Asn25201=)
c.71001T= (p.Asn23667=)
c.70998T= (p.Asn23666=)
c.68040T= (p.Asn22680=)
c.49656T= (p.Asn16552=)
c.71151T= (p.Asn23717=)
c.71148T= (p.Asn23716=)
c.70581T= (p.Asn23527=)
c.67923T= (p.Asn22641=)
c.67842T= (p.Asn22614=)
c.49605T= (p.Asn16535=)
c.39459T= (p.Asn13153=)
2g.178569422A>CCA349614321TTN,TTN-AS1c.69006T>G (p.Asn23002Lys)
c.50091T>G (p.Asn16697Lys)
c.49890T>G (p.Asn16630Lys)
c.49515T>G (p.Asn16505Lys)
c.76710T>G (p.Asn25570Lys)
c.71787T>G (p.Asn23929Lys)
n.447-1878A>C
n.2044-13150A>C
c.75807T>G (p.Asn25269Lys)
c.49701T>G (p.Asn16567Lys)
c.49560T>G (p.Asn16520Lys)
c.75603T>G (p.Asn25201Lys)
c.71001T>G (p.Asn23667Lys)
c.70998T>G (p.Asn23666Lys)
c.68040T>G (p.Asn22680Lys)
c.49656T>G (p.Asn16552Lys)
c.71151T>G (p.Asn23717Lys)
c.71148T>G (p.Asn23716Lys)
c.70581T>G (p.Asn23527Lys)
c.67923T>G (p.Asn22641Lys)
c.67842T>G (p.Asn22614Lys)
c.49605T>G (p.Asn16535Lys)
c.39459T>G (p.Asn13153Lys)
 gnomAD v4
2g.178569422A>GCA60993677TTN,TTN-AS1c.69006T>C (p.Asn23002=)
c.50091T>C (p.Asn16697=)
c.49890T>C (p.Asn16630=)
c.49515T>C (p.Asn16505=)
c.76710T>C (p.Asn25570=)
c.71787T>C (p.Asn23929=)
n.447-1878A>G
n.2044-13150A>G
c.75807T>C (p.Asn25269=)
c.49701T>C (p.Asn16567=)
c.49560T>C (p.Asn16520=)
c.75603T>C (p.Asn25201=)
c.71001T>C (p.Asn23667=)
c.70998T>C (p.Asn23666=)
c.68040T>C (p.Asn22680=)
c.49656T>C (p.Asn16552=)
c.71151T>C (p.Asn23717=)
c.71148T>C (p.Asn23716=)
c.70581T>C (p.Asn23527=)
c.67923T>C (p.Asn22641=)
c.67842T>C (p.Asn22614=)
c.49605T>C (p.Asn16535=)
c.39459T>C (p.Asn13153=)
 dbSNP gnomAD v4
2g.178569422A>TCA349614323TTN,TTN-AS1c.69006T>A (p.Asn23002Lys)
c.50091T>A (p.Asn16697Lys)
c.49890T>A (p.Asn16630Lys)
c.49515T>A (p.Asn16505Lys)
c.76710T>A (p.Asn25570Lys)
c.71787T>A (p.Asn23929Lys)
n.447-1878A>T
n.2044-13150A>T
c.75807T>A (p.Asn25269Lys)
c.49701T>A (p.Asn16567Lys)
c.49560T>A (p.Asn16520Lys)
c.75603T>A (p.Asn25201Lys)
c.71001T>A (p.Asn23667Lys)
c.70998T>A (p.Asn23666Lys)
c.68040T>A (p.Asn22680Lys)
c.49656T>A (p.Asn16552Lys)
c.71151T>A (p.Asn23717Lys)
c.71148T>A (p.Asn23716Lys)
c.70581T>A (p.Asn23527Lys)
c.67923T>A (p.Asn22641Lys)
c.67842T>A (p.Asn22614Lys)
c.49605T>A (p.Asn16535Lys)
c.39459T>A (p.Asn13153Lys)
2g.178569423T>ACA349614328TTN,TTN-AS1c.69005A>T (p.Asn23002Ile)
c.50090A>T (p.Asn16697Ile)
c.49889A>T (p.Asn16630Ile)
c.49514A>T (p.Asn16505Ile)
c.76709A>T (p.Asn25570Ile)
c.71786A>T (p.Asn23929Ile)
n.447-1877T>A
n.2044-13149T>A
c.75806A>T (p.Asn25269Ile)
c.49700A>T (p.Asn16567Ile)
c.49559A>T (p.Asn16520Ile)
c.75602A>T (p.Asn25201Ile)
c.71000A>T (p.Asn23667Ile)
c.70997A>T (p.Asn23666Ile)
c.68039A>T (p.Asn22680Ile)
c.49655A>T (p.Asn16552Ile)
c.71150A>T (p.Asn23717Ile)
c.71147A>T (p.Asn23716Ile)
c.70580A>T (p.Asn23527Ile)
c.67922A>T (p.Asn22641Ile)
c.67841A>T (p.Asn22614Ile)
c.49604A>T (p.Asn16535Ile)
c.39458A>T (p.Asn13153Ile)
2g.178569423T>CCA349614327TTN,TTN-AS1c.69005A>G (p.Asn23002Ser)
c.50090A>G (p.Asn16697Ser)
c.49889A>G (p.Asn16630Ser)
c.49514A>G (p.Asn16505Ser)
c.76709A>G (p.Asn25570Ser)
c.71786A>G (p.Asn23929Ser)
n.447-1877T>C
n.2044-13149T>C
c.75806A>G (p.Asn25269Ser)
c.49700A>G (p.Asn16567Ser)
c.49559A>G (p.Asn16520Ser)
c.75602A>G (p.Asn25201Ser)
c.71000A>G (p.Asn23667Ser)
c.70997A>G (p.Asn23666Ser)
c.68039A>G (p.Asn22680Ser)
c.49655A>G (p.Asn16552Ser)
c.71150A>G (p.Asn23717Ser)
c.71147A>G (p.Asn23716Ser)
c.70580A>G (p.Asn23527Ser)
c.67922A>G (p.Asn22641Ser)
c.67841A>G (p.Asn22614Ser)
c.49604A>G (p.Asn16535Ser)
c.39458A>G (p.Asn13153Ser)
 gnomAD v4
2g.178569423T>GCA349614325TTN,TTN-AS1c.69005A>C (p.Asn23002Thr)
c.50090A>C (p.Asn16697Thr)
c.49889A>C (p.Asn16630Thr)
c.49514A>C (p.Asn16505Thr)
c.76709A>C (p.Asn25570Thr)
c.71786A>C (p.Asn23929Thr)
n.447-1877T>G
n.2044-13149T>G
c.75806A>C (p.Asn25269Thr)
c.49700A>C (p.Asn16567Thr)
c.49559A>C (p.Asn16520Thr)
c.75602A>C (p.Asn25201Thr)
c.71000A>C (p.Asn23667Thr)
c.70997A>C (p.Asn23666Thr)
c.68039A>C (p.Asn22680Thr)
c.49655A>C (p.Asn16552Thr)
c.71150A>C (p.Asn23717Thr)
c.71147A>C (p.Asn23716Thr)
c.70580A>C (p.Asn23527Thr)
c.67922A>C (p.Asn22641Thr)
c.67841A>C (p.Asn22614Thr)
c.49604A>C (p.Asn16535Thr)
c.39458A>C (p.Asn13153Thr)
2g.178569424T>ACA349614329TTN,TTN-AS1c.69004A>T (p.Asn23002Tyr)
c.50089A>T (p.Asn16697Tyr)
c.49888A>T (p.Asn16630Tyr)
c.49513A>T (p.Asn16505Tyr)
c.76708A>T (p.Asn25570Tyr)
c.71785A>T (p.Asn23929Tyr)
n.447-1876T>A
n.2044-13148T>A
c.75805A>T (p.Asn25269Tyr)
c.49699A>T (p.Asn16567Tyr)
c.49558A>T (p.Asn16520Tyr)
c.75601A>T (p.Asn25201Tyr)
c.70999A>T (p.Asn23667Tyr)
c.70996A>T (p.Asn23666Tyr)
c.68038A>T (p.Asn22680Tyr)
c.49654A>T (p.Asn16552Tyr)
c.71149A>T (p.Asn23717Tyr)
c.71146A>T (p.Asn23716Tyr)
c.70579A>T (p.Asn23527Tyr)
c.67921A>T (p.Asn22641Tyr)
c.67840A>T (p.Asn22614Tyr)
c.49603A>T (p.Asn16535Tyr)
c.39457A>T (p.Asn13153Tyr)
2g.178569424T>CCA349614331TTN,TTN-AS1c.69004A>G (p.Asn23002Asp)
c.50089A>G (p.Asn16697Asp)
c.49888A>G (p.Asn16630Asp)
c.49513A>G (p.Asn16505Asp)
c.76708A>G (p.Asn25570Asp)
c.71785A>G (p.Asn23929Asp)
n.447-1876T>C
n.2044-13148T>C
c.75805A>G (p.Asn25269Asp)
c.49699A>G (p.Asn16567Asp)
c.49558A>G (p.Asn16520Asp)
c.75601A>G (p.Asn25201Asp)
c.70999A>G (p.Asn23667Asp)
c.70996A>G (p.Asn23666Asp)
c.68038A>G (p.Asn22680Asp)
c.49654A>G (p.Asn16552Asp)
c.71149A>G (p.Asn23717Asp)
c.71146A>G (p.Asn23716Asp)
c.70579A>G (p.Asn23527Asp)
c.67921A>G (p.Asn22641Asp)
c.67840A>G (p.Asn22614Asp)
c.49603A>G (p.Asn16535Asp)
c.39457A>G (p.Asn13153Asp)
2g.178569424T>GCA349614333TTN,TTN-AS1c.69004A>C (p.Asn23002His)
c.50089A>C (p.Asn16697His)
c.49888A>C (p.Asn16630His)
c.49513A>C (p.Asn16505His)
c.76708A>C (p.Asn25570His)
c.71785A>C (p.Asn23929His)
n.447-1876T>G
n.2044-13148T>G
c.75805A>C (p.Asn25269His)
c.49699A>C (p.Asn16567His)
c.49558A>C (p.Asn16520His)
c.75601A>C (p.Asn25201His)
c.70999A>C (p.Asn23667His)
c.70996A>C (p.Asn23666His)
c.68038A>C (p.Asn22680His)
c.49654A>C (p.Asn16552His)
c.71149A>C (p.Asn23717His)
c.71146A>C (p.Asn23716His)
c.70579A>C (p.Asn23527His)
c.67921A>C (p.Asn22641His)
c.67840A>C (p.Asn22614His)
c.49603A>C (p.Asn16535His)
c.39457A>C (p.Asn13153His)
2g.178569425G>ACA430253850TTN,TTN-AS1c.69003C>T (p.Asp23001=)
c.50088C>T (p.Asp16696=)
c.49887C>T (p.Asp16629=)
c.49512C>T (p.Asp16504=)
c.76707C>T (p.Asp25569=)
c.71784C>T (p.Asp23928=)
n.447-1875G>A
n.2044-13147G>A
c.75804C>T (p.Asp25268=)
c.49698C>T (p.Asp16566=)
c.49557C>T (p.Asp16519=)
c.75600C>T (p.Asp25200=)
c.70998C>T (p.Asp23666=)
c.70995C>T (p.Asp23665=)
c.68037C>T (p.Asp22679=)
c.49653C>T (p.Asp16551=)
c.71148C>T (p.Asp23716=)
c.71145C>T (p.Asp23715=)
c.70578C>T (p.Asp23526=)
c.67920C>T (p.Asp22640=)
c.67839C>T (p.Asp22613=)
c.49602C>T (p.Asp16534=)
c.39456C>T (p.Asp13152=)
2g.178569425G>CCA349614334TTN,TTN-AS1c.69003C>G (p.Asp23001Glu)
c.50088C>G (p.Asp16696Glu)
c.49887C>G (p.Asp16629Glu)
c.49512C>G (p.Asp16504Glu)
c.76707C>G (p.Asp25569Glu)
c.71784C>G (p.Asp23928Glu)
n.447-1875G>C
n.2044-13147G>C
c.75804C>G (p.Asp25268Glu)
c.49698C>G (p.Asp16566Glu)
c.49557C>G (p.Asp16519Glu)
c.75600C>G (p.Asp25200Glu)
c.70998C>G (p.Asp23666Glu)
c.70995C>G (p.Asp23665Glu)
c.68037C>G (p.Asp22679Glu)
c.49653C>G (p.Asp16551Glu)
c.71148C>G (p.Asp23716Glu)
c.71145C>G (p.Asp23715Glu)
c.70578C>G (p.Asp23526Glu)
c.67920C>G (p.Asp22640Glu)
c.67839C>G (p.Asp22613Glu)
c.49602C>G (p.Asp16534Glu)
c.39456C>G (p.Asp13152Glu)
2g.178569425G=CA1310530436TTN,TTN-AS1c.69003C= (p.Asp23001=)
c.50088C= (p.Asp16696=)
c.49887C= (p.Asp16629=)
c.49512C= (p.Asp16504=)
c.76707C= (p.Asp25569=)
c.71784C= (p.Asp23928=)
n.447-1875G=
n.2044-13147G=
c.75804C= (p.Asp25268=)
c.49698C= (p.Asp16566=)
c.49557C= (p.Asp16519=)
c.75600C= (p.Asp25200=)
c.70998C= (p.Asp23666=)
c.70995C= (p.Asp23665=)
c.68037C= (p.Asp22679=)
c.49653C= (p.Asp16551=)
c.71148C= (p.Asp23716=)
c.71145C= (p.Asp23715=)
c.70578C= (p.Asp23526=)
c.67920C= (p.Asp22640=)
c.67839C= (p.Asp22613=)
c.49602C= (p.Asp16534=)
c.39456C= (p.Asp13152=)
2g.178569425G>TCA60993682TTN,TTN-AS1c.69003C>A (p.Asp23001Glu)
c.50088C>A (p.Asp16696Glu)
c.49887C>A (p.Asp16629Glu)
c.49512C>A (p.Asp16504Glu)
c.76707C>A (p.Asp25569Glu)
c.71784C>A (p.Asp23928Glu)
n.447-1875G>T
n.2044-13147G>T
c.75804C>A (p.Asp25268Glu)
c.49698C>A (p.Asp16566Glu)
c.49557C>A (p.Asp16519Glu)
c.75600C>A (p.Asp25200Glu)
c.70998C>A (p.Asp23666Glu)
c.70995C>A (p.Asp23665Glu)
c.68037C>A (p.Asp22679Glu)
c.49653C>A (p.Asp16551Glu)
c.71148C>A (p.Asp23716Glu)
c.71145C>A (p.Asp23715Glu)
c.70578C>A (p.Asp23526Glu)
c.67920C>A (p.Asp22640Glu)
c.67839C>A (p.Asp22613Glu)
c.49602C>A (p.Asp16534Glu)
c.39456C>A (p.Asp13152Glu)
 ClinVar dbSNP gnomAD v4
2g.178569426T>ACA349614339TTN,TTN-AS1c.69002A>T (p.Asp23001Val)
c.50087A>T (p.Asp16696Val)
c.49886A>T (p.Asp16629Val)
c.49511A>T (p.Asp16504Val)
c.76706A>T (p.Asp25569Val)
c.71783A>T (p.Asp23928Val)
n.447-1874T>A
n.2044-13146T>A
c.75803A>T (p.Asp25268Val)
c.49697A>T (p.Asp16566Val)
c.49556A>T (p.Asp16519Val)
c.75599A>T (p.Asp25200Val)
c.70997A>T (p.Asp23666Val)
c.70994A>T (p.Asp23665Val)
c.68036A>T (p.Asp22679Val)
c.49652A>T (p.Asp16551Val)
c.71147A>T (p.Asp23716Val)
c.71144A>T (p.Asp23715Val)
c.70577A>T (p.Asp23526Val)
c.67919A>T (p.Asp22640Val)
c.67838A>T (p.Asp22613Val)
c.49601A>T (p.Asp16534Val)
c.39455A>T (p.Asp13152Val)
2g.178569426T>CCA349614337TTN,TTN-AS1c.69002A>G (p.Asp23001Gly)
c.50087A>G (p.Asp16696Gly)
c.49886A>G (p.Asp16629Gly)
c.49511A>G (p.Asp16504Gly)
c.76706A>G (p.Asp25569Gly)
c.71783A>G (p.Asp23928Gly)
n.447-1874T>C
n.2044-13146T>C
c.75803A>G (p.Asp25268Gly)
c.49697A>G (p.Asp16566Gly)
c.49556A>G (p.Asp16519Gly)
c.75599A>G (p.Asp25200Gly)
c.70997A>G (p.Asp23666Gly)
c.70994A>G (p.Asp23665Gly)
c.68036A>G (p.Asp22679Gly)
c.49652A>G (p.Asp16551Gly)
c.71147A>G (p.Asp23716Gly)
c.71144A>G (p.Asp23715Gly)
c.70577A>G (p.Asp23526Gly)
c.67919A>G (p.Asp22640Gly)
c.67838A>G (p.Asp22613Gly)
c.49601A>G (p.Asp16534Gly)
c.39455A>G (p.Asp13152Gly)
2g.178569426T>GCA349614335TTN,TTN-AS1c.69002A>C (p.Asp23001Ala)
c.50087A>C (p.Asp16696Ala)
c.49886A>C (p.Asp16629Ala)
c.49511A>C (p.Asp16504Ala)
c.76706A>C (p.Asp25569Ala)
c.71783A>C (p.Asp23928Ala)
n.447-1874T>G
n.2044-13146T>G
c.75803A>C (p.Asp25268Ala)
c.49697A>C (p.Asp16566Ala)
c.49556A>C (p.Asp16519Ala)
c.75599A>C (p.Asp25200Ala)
c.70997A>C (p.Asp23666Ala)
c.70994A>C (p.Asp23665Ala)
c.68036A>C (p.Asp22679Ala)
c.49652A>C (p.Asp16551Ala)
c.71147A>C (p.Asp23716Ala)
c.71144A>C (p.Asp23715Ala)
c.70577A>C (p.Asp23526Ala)
c.67919A>C (p.Asp22640Ala)
c.67838A>C (p.Asp22613Ala)
c.49601A>C (p.Asp16534Ala)
c.39455A>C (p.Asp13152Ala)
2g.178569427C>ACA349614340TTN,TTN-AS1c.69001G>T (p.Asp23001Tyr)
c.50086G>T (p.Asp16696Tyr)
c.49885G>T (p.Asp16629Tyr)
c.49510G>T (p.Asp16504Tyr)
c.76705G>T (p.Asp25569Tyr)
c.71782G>T (p.Asp23928Tyr)
n.447-1873C>A
n.2044-13145C>A
c.75802G>T (p.Asp25268Tyr)
c.49696G>T (p.Asp16566Tyr)
c.49555G>T (p.Asp16519Tyr)
c.75598G>T (p.Asp25200Tyr)
c.70996G>T (p.Asp23666Tyr)
c.70993G>T (p.Asp23665Tyr)
c.68035G>T (p.Asp22679Tyr)
c.49651G>T (p.Asp16551Tyr)
c.71146G>T (p.Asp23716Tyr)
c.71143G>T (p.Asp23715Tyr)
c.70576G>T (p.Asp23526Tyr)
c.67918G>T (p.Asp22640Tyr)
c.67837G>T (p.Asp22613Tyr)
c.49600G>T (p.Asp16534Tyr)
c.39454G>T (p.Asp13152Tyr)
2g.178569427C=CA1310530438TTN,TTN-AS1c.69001G= (p.Asp23001=)
c.50086G= (p.Asp16696=)
c.49885G= (p.Asp16629=)
c.49510G= (p.Asp16504=)
c.76705G= (p.Asp25569=)
c.71782G= (p.Asp23928=)
n.447-1873C=
n.2044-13145C=
c.75802G= (p.Asp25268=)
c.49696G= (p.Asp16566=)
c.49555G= (p.Asp16519=)
c.75598G= (p.Asp25200=)
c.70996G= (p.Asp23666=)
c.70993G= (p.Asp23665=)
c.68035G= (p.Asp22679=)
c.49651G= (p.Asp16551=)
c.71146G= (p.Asp23716=)
c.71143G= (p.Asp23715=)
c.70576G= (p.Asp23526=)
c.67918G= (p.Asp22640=)
c.67837G= (p.Asp22613=)
c.49600G= (p.Asp16534=)
c.39454G= (p.Asp13152=)
2g.178569427C>GCA349614341TTN,TTN-AS1c.69001G>C (p.Asp23001His)
c.50086G>C (p.Asp16696His)
c.49885G>C (p.Asp16629His)
c.49510G>C (p.Asp16504His)
c.76705G>C (p.Asp25569His)
c.71782G>C (p.Asp23928His)
n.447-1873C>G
n.2044-13145C>G
c.75802G>C (p.Asp25268His)
c.49696G>C (p.Asp16566His)
c.49555G>C (p.Asp16519His)
c.75598G>C (p.Asp25200His)
c.70996G>C (p.Asp23666His)
c.70993G>C (p.Asp23665His)
c.68035G>C (p.Asp22679His)
c.49651G>C (p.Asp16551His)
c.71146G>C (p.Asp23716His)
c.71143G>C (p.Asp23715His)
c.70576G>C (p.Asp23526His)
c.67918G>C (p.Asp22640His)
c.67837G>C (p.Asp22613His)
c.49600G>C (p.Asp16534His)
c.39454G>C (p.Asp13152His)
 gnomAD v4
2g.178569427C>TCA349614343TTN,TTN-AS1c.69001G>A (p.Asp23001Asn)
c.50086G>A (p.Asp16696Asn)
c.49885G>A (p.Asp16629Asn)
c.49510G>A (p.Asp16504Asn)
c.76705G>A (p.Asp25569Asn)
c.71782G>A (p.Asp23928Asn)
n.447-1873C>T
n.2044-13145C>T
c.75802G>A (p.Asp25268Asn)
c.49696G>A (p.Asp16566Asn)
c.49555G>A (p.Asp16519Asn)
c.75598G>A (p.Asp25200Asn)
c.70996G>A (p.Asp23666Asn)
c.70993G>A (p.Asp23665Asn)
c.68035G>A (p.Asp22679Asn)
c.49651G>A (p.Asp16551Asn)
c.71146G>A (p.Asp23716Asn)
c.71143G>A (p.Asp23715Asn)
c.70576G>A (p.Asp23526Asn)
c.67918G>A (p.Asp22640Asn)
c.67837G>A (p.Asp22613Asn)
c.49600G>A (p.Asp16534Asn)
c.39454G>A (p.Asp13152Asn)
 dbSNP
2g.178569428A>CCA430253860TTN,TTN-AS1c.69000T>G (p.Leu23000=)
c.50085T>G (p.Leu16695=)
c.49884T>G (p.Leu16628=)
c.49509T>G (p.Leu16503=)
c.76704T>G (p.Leu25568=)
c.71781T>G (p.Leu23927=)
n.447-1872A>C
n.2044-13144A>C
c.75801T>G (p.Leu25267=)
c.49695T>G (p.Leu16565=)
c.49554T>G (p.Leu16518=)
c.75597T>G (p.Leu25199=)
c.70995T>G (p.Leu23665=)
c.70992T>G (p.Leu23664=)
c.68034T>G (p.Leu22678=)
c.49650T>G (p.Leu16550=)
c.71145T>G (p.Leu23715=)
c.71142T>G (p.Leu23714=)
c.70575T>G (p.Leu23525=)
c.67917T>G (p.Leu22639=)
c.67836T>G (p.Leu22612=)
c.49599T>G (p.Leu16533=)
c.39453T>G (p.Leu13151=)
2g.178569428A>GCA430253861TTN,TTN-AS1c.69000T>C (p.Leu23000=)
c.50085T>C (p.Leu16695=)
c.49884T>C (p.Leu16628=)
c.49509T>C (p.Leu16503=)
c.76704T>C (p.Leu25568=)
c.71781T>C (p.Leu23927=)
n.447-1872A>G
n.2044-13144A>G
c.75801T>C (p.Leu25267=)
c.49695T>C (p.Leu16565=)
c.49554T>C (p.Leu16518=)
c.75597T>C (p.Leu25199=)
c.70995T>C (p.Leu23665=)
c.70992T>C (p.Leu23664=)
c.68034T>C (p.Leu22678=)
c.49650T>C (p.Leu16550=)
c.71145T>C (p.Leu23715=)
c.71142T>C (p.Leu23714=)
c.70575T>C (p.Leu23525=)
c.67917T>C (p.Leu22639=)
c.67836T>C (p.Leu22612=)
c.49599T>C (p.Leu16533=)
c.39453T>C (p.Leu13151=)
2g.178569428A>TCA430253862TTN,TTN-AS1c.69000T>A (p.Leu23000=)
c.50085T>A (p.Leu16695=)
c.49884T>A (p.Leu16628=)
c.49509T>A (p.Leu16503=)
c.76704T>A (p.Leu25568=)
c.71781T>A (p.Leu23927=)
n.447-1872A>T
n.2044-13144A>T
c.75801T>A (p.Leu25267=)
c.49695T>A (p.Leu16565=)
c.49554T>A (p.Leu16518=)
c.75597T>A (p.Leu25199=)
c.70995T>A (p.Leu23665=)
c.70992T>A (p.Leu23664=)
c.68034T>A (p.Leu22678=)
c.49650T>A (p.Leu16550=)
c.71145T>A (p.Leu23715=)
c.71142T>A (p.Leu23714=)
c.70575T>A (p.Leu23525=)
c.67917T>A (p.Leu22639=)
c.67836T>A (p.Leu22612=)
c.49599T>A (p.Leu16533=)
c.39453T>A (p.Leu13151=)
2g.178569429A>CCA349614345TTN,TTN-AS1c.68999T>G (p.Leu23000Arg)
c.50084T>G (p.Leu16695Arg)
c.49883T>G (p.Leu16628Arg)
c.49508T>G (p.Leu16503Arg)
c.76703T>G (p.Leu25568Arg)
c.71780T>G (p.Leu23927Arg)
n.447-1871A>C
n.2044-13143A>C
c.75800T>G (p.Leu25267Arg)
c.49694T>G (p.Leu16565Arg)
c.49553T>G (p.Leu16518Arg)
c.75596T>G (p.Leu25199Arg)
c.70994T>G (p.Leu23665Arg)
c.70991T>G (p.Leu23664Arg)
c.68033T>G (p.Leu22678Arg)
c.49649T>G (p.Leu16550Arg)
c.71144T>G (p.Leu23715Arg)
c.71141T>G (p.Leu23714Arg)
c.70574T>G (p.Leu23525Arg)
c.67916T>G (p.Leu22639Arg)
c.67835T>G (p.Leu22612Arg)
c.49598T>G (p.Leu16533Arg)
c.39452T>G (p.Leu13151Arg)
2g.178569429A>GCA349614347TTN,TTN-AS1c.68999T>C (p.Leu23000Pro)
c.50084T>C (p.Leu16695Pro)
c.49883T>C (p.Leu16628Pro)
c.49508T>C (p.Leu16503Pro)
c.76703T>C (p.Leu25568Pro)
c.71780T>C (p.Leu23927Pro)
n.447-1871A>G
n.2044-13143A>G
c.75800T>C (p.Leu25267Pro)
c.49694T>C (p.Leu16565Pro)
c.49553T>C (p.Leu16518Pro)
c.75596T>C (p.Leu25199Pro)
c.70994T>C (p.Leu23665Pro)
c.70991T>C (p.Leu23664Pro)
c.68033T>C (p.Leu22678Pro)
c.49649T>C (p.Leu16550Pro)
c.71144T>C (p.Leu23715Pro)
c.71141T>C (p.Leu23714Pro)
c.70574T>C (p.Leu23525Pro)
c.67916T>C (p.Leu22639Pro)
c.67835T>C (p.Leu22612Pro)
c.49598T>C (p.Leu16533Pro)
c.39452T>C (p.Leu13151Pro)
 gnomAD v4

Number of alleles fetched