Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178614744T>ACA349608051TTN,TTN-AS1c.41066A>T (p.Glu13689Val)
c.22151A>T (p.Glu7384Val)
c.21950A>T (p.Glu7317Val)
c.21575A>T (p.Glu7192Val)
c.48770A>T (p.Glu16257Val)
c.43847A>T (p.Glu14616Val)
n.1492T>A
c.47867A>T (p.Glu15956Val)
c.21761A>T (p.Glu7254Val)
c.21620A>T (p.Glu7207Val)
c.47663A>T (p.Glu15888Val)
c.43061A>T (p.Glu14354Val)
c.43058A>T (p.Glu14353Val)
c.40100A>T (p.Glu13367Val)
c.21716A>T (p.Glu7239Val)
c.43211A>T (p.Glu14404Val)
c.43208A>T (p.Glu14403Val)
c.42641A>T (p.Glu14214Val)
c.39983A>T (p.Glu13328Val)
c.39902A>T (p.Glu13301Val)
c.21665A>T (p.Glu7222Val)
c.11519A>T (p.Glu3840Val)
2g.178614744T>CCA349608052TTN,TTN-AS1c.41066A>G (p.Glu13689Gly)
c.22151A>G (p.Glu7384Gly)
c.21950A>G (p.Glu7317Gly)
c.21575A>G (p.Glu7192Gly)
c.48770A>G (p.Glu16257Gly)
c.43847A>G (p.Glu14616Gly)
n.1492T>C
c.47867A>G (p.Glu15956Gly)
c.21761A>G (p.Glu7254Gly)
c.21620A>G (p.Glu7207Gly)
c.47663A>G (p.Glu15888Gly)
c.43061A>G (p.Glu14354Gly)
c.43058A>G (p.Glu14353Gly)
c.40100A>G (p.Glu13367Gly)
c.21716A>G (p.Glu7239Gly)
c.43211A>G (p.Glu14404Gly)
c.43208A>G (p.Glu14403Gly)
c.42641A>G (p.Glu14214Gly)
c.39983A>G (p.Glu13328Gly)
c.39902A>G (p.Glu13301Gly)
c.21665A>G (p.Glu7222Gly)
c.11519A>G (p.Glu3840Gly)
2g.178614744T>GCA349608055TTN,TTN-AS1c.41066A>C (p.Glu13689Ala)
c.22151A>C (p.Glu7384Ala)
c.21950A>C (p.Glu7317Ala)
c.21575A>C (p.Glu7192Ala)
c.48770A>C (p.Glu16257Ala)
c.43847A>C (p.Glu14616Ala)
n.1492T>G
c.47867A>C (p.Glu15956Ala)
c.21761A>C (p.Glu7254Ala)
c.21620A>C (p.Glu7207Ala)
c.47663A>C (p.Glu15888Ala)
c.43061A>C (p.Glu14354Ala)
c.43058A>C (p.Glu14353Ala)
c.40100A>C (p.Glu13367Ala)
c.21716A>C (p.Glu7239Ala)
c.43211A>C (p.Glu14404Ala)
c.43208A>C (p.Glu14403Ala)
c.42641A>C (p.Glu14214Ala)
c.39983A>C (p.Glu13328Ala)
c.39902A>C (p.Glu13301Ala)
c.21665A>C (p.Glu7222Ala)
c.11519A>C (p.Glu3840Ala)
2g.178614745C>ACA349608057TTN,TTN-AS1c.41065G>T (p.Glu13689Ter)
c.22150G>T (p.Glu7384Ter)
c.21949G>T (p.Glu7317Ter)
c.21574G>T (p.Glu7192Ter)
c.48769G>T (p.Glu16257Ter)
c.43846G>T (p.Glu14616Ter)
n.1493C>A
c.47866G>T (p.Glu15956Ter)
c.21760G>T (p.Glu7254Ter)
c.21619G>T (p.Glu7207Ter)
c.47662G>T (p.Glu15888Ter)
c.43060G>T (p.Glu14354Ter)
c.43057G>T (p.Glu14353Ter)
c.40099G>T (p.Glu13367Ter)
c.21715G>T (p.Glu7239Ter)
c.43210G>T (p.Glu14404Ter)
c.43207G>T (p.Glu14403Ter)
c.42640G>T (p.Glu14214Ter)
c.39982G>T (p.Glu13328Ter)
c.39901G>T (p.Glu13301Ter)
c.21664G>T (p.Glu7222Ter)
c.11518G>T (p.Glu3840Ter)
2g.178614745C=CA1310549493TTN,TTN-AS1c.41065G= (p.Glu13689=)
c.22150G= (p.Glu7384=)
c.21949G= (p.Glu7317=)
c.21574G= (p.Glu7192=)
c.48769G= (p.Glu16257=)
c.43846G= (p.Glu14616=)
n.1493C=
c.47866G= (p.Glu15956=)
c.21760G= (p.Glu7254=)
c.21619G= (p.Glu7207=)
c.47662G= (p.Glu15888=)
c.43060G= (p.Glu14354=)
c.43057G= (p.Glu14353=)
c.40099G= (p.Glu13367=)
c.21715G= (p.Glu7239=)
c.43210G= (p.Glu14404=)
c.43207G= (p.Glu14403=)
c.42640G= (p.Glu14214=)
c.39982G= (p.Glu13328=)
c.39901G= (p.Glu13301=)
c.21664G= (p.Glu7222=)
c.11518G= (p.Glu3840=)
2g.178614745C>GCA349608059TTN,TTN-AS1c.41065G>C (p.Glu13689Gln)
c.22150G>C (p.Glu7384Gln)
c.21949G>C (p.Glu7317Gln)
c.21574G>C (p.Glu7192Gln)
c.48769G>C (p.Glu16257Gln)
c.43846G>C (p.Glu14616Gln)
n.1493C>G
c.47866G>C (p.Glu15956Gln)
c.21760G>C (p.Glu7254Gln)
c.21619G>C (p.Glu7207Gln)
c.47662G>C (p.Glu15888Gln)
c.43060G>C (p.Glu14354Gln)
c.43057G>C (p.Glu14353Gln)
c.40099G>C (p.Glu13367Gln)
c.21715G>C (p.Glu7239Gln)
c.43210G>C (p.Glu14404Gln)
c.43207G>C (p.Glu14403Gln)
c.42640G>C (p.Glu14214Gln)
c.39982G>C (p.Glu13328Gln)
c.39901G>C (p.Glu13301Gln)
c.21664G>C (p.Glu7222Gln)
c.11518G>C (p.Glu3840Gln)
2g.178614745C>TCA349608061TTN,TTN-AS1c.41065G>A (p.Glu13689Lys)
c.22150G>A (p.Glu7384Lys)
c.21949G>A (p.Glu7317Lys)
c.21574G>A (p.Glu7192Lys)
c.48769G>A (p.Glu16257Lys)
c.43846G>A (p.Glu14616Lys)
n.1493C>T
c.47866G>A (p.Glu15956Lys)
c.21760G>A (p.Glu7254Lys)
c.21619G>A (p.Glu7207Lys)
c.47662G>A (p.Glu15888Lys)
c.43060G>A (p.Glu14354Lys)
c.43057G>A (p.Glu14353Lys)
c.40099G>A (p.Glu13367Lys)
c.21715G>A (p.Glu7239Lys)
c.43210G>A (p.Glu14404Lys)
c.43207G>A (p.Glu14403Lys)
c.42640G>A (p.Glu14214Lys)
c.39982G>A (p.Glu13328Lys)
c.39901G>A (p.Glu13301Lys)
c.21664G>A (p.Glu7222Lys)
c.11518G>A (p.Glu3840Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178614746T>ACA430104091TTN,TTN-AS1c.41064A>T (p.Pro13688=)
c.22149A>T (p.Pro7383=)
c.21948A>T (p.Pro7316=)
c.21573A>T (p.Pro7191=)
c.48768A>T (p.Pro16256=)
c.43845A>T (p.Pro14615=)
n.1494T>A
c.47865A>T (p.Pro15955=)
c.21759A>T (p.Pro7253=)
c.21618A>T (p.Pro7206=)
c.47661A>T (p.Pro15887=)
c.43059A>T (p.Pro14353=)
c.43056A>T (p.Pro14352=)
c.40098A>T (p.Pro13366=)
c.21714A>T (p.Pro7238=)
c.43209A>T (p.Pro14403=)
c.43206A>T (p.Pro14402=)
c.42639A>T (p.Pro14213=)
c.39981A>T (p.Pro13327=)
c.39900A>T (p.Pro13300=)
c.21663A>T (p.Pro7221=)
c.11517A>T (p.Pro3839=)
2g.178614746T>CCA1994746TTN,TTN-AS1c.41064A>G (p.Pro13688=)
c.22149A>G (p.Pro7383=)
c.21948A>G (p.Pro7316=)
c.21573A>G (p.Pro7191=)
c.48768A>G (p.Pro16256=)
c.43845A>G (p.Pro14615=)
n.1494T>C
c.47865A>G (p.Pro15955=)
c.21759A>G (p.Pro7253=)
c.21618A>G (p.Pro7206=)
c.47661A>G (p.Pro15887=)
c.43059A>G (p.Pro14353=)
c.43056A>G (p.Pro14352=)
c.40098A>G (p.Pro13366=)
c.21714A>G (p.Pro7238=)
c.43209A>G (p.Pro14403=)
c.43206A>G (p.Pro14402=)
c.42639A>G (p.Pro14213=)
c.39981A>G (p.Pro13327=)
c.39900A>G (p.Pro13300=)
c.21663A>G (p.Pro7221=)
c.11517A>G (p.Pro3839=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178614746T>GCA430104094TTN,TTN-AS1c.41064A>C (p.Pro13688=)
c.22149A>C (p.Pro7383=)
c.21948A>C (p.Pro7316=)
c.21573A>C (p.Pro7191=)
c.48768A>C (p.Pro16256=)
c.43845A>C (p.Pro14615=)
n.1494T>G
c.47865A>C (p.Pro15955=)
c.21759A>C (p.Pro7253=)
c.21618A>C (p.Pro7206=)
c.47661A>C (p.Pro15887=)
c.43059A>C (p.Pro14353=)
c.43056A>C (p.Pro14352=)
c.40098A>C (p.Pro13366=)
c.21714A>C (p.Pro7238=)
c.43209A>C (p.Pro14403=)
c.43206A>C (p.Pro14402=)
c.42639A>C (p.Pro14213=)
c.39981A>C (p.Pro13327=)
c.39900A>C (p.Pro13300=)
c.21663A>C (p.Pro7221=)
c.11517A>C (p.Pro3839=)
2g.178614746T=CA1310549494TTN,TTN-AS1c.41064A= (p.Pro13688=)
c.22149A= (p.Pro7383=)
c.21948A= (p.Pro7316=)
c.21573A= (p.Pro7191=)
c.48768A= (p.Pro16256=)
c.43845A= (p.Pro14615=)
n.1494T=
c.47865A= (p.Pro15955=)
c.21759A= (p.Pro7253=)
c.21618A= (p.Pro7206=)
c.47661A= (p.Pro15887=)
c.43059A= (p.Pro14353=)
c.43056A= (p.Pro14352=)
c.40098A= (p.Pro13366=)
c.21714A= (p.Pro7238=)
c.43209A= (p.Pro14403=)
c.43206A= (p.Pro14402=)
c.42639A= (p.Pro14213=)
c.39981A= (p.Pro13327=)
c.39900A= (p.Pro13300=)
c.21663A= (p.Pro7221=)
c.11517A= (p.Pro3839=)
2g.178614747G>ACA349608067TTN,TTN-AS1c.41063C>T (p.Pro13688Leu)
c.22148C>T (p.Pro7383Leu)
c.21947C>T (p.Pro7316Leu)
c.21572C>T (p.Pro7191Leu)
c.48767C>T (p.Pro16256Leu)
c.43844C>T (p.Pro14615Leu)
n.1495G>A
c.47864C>T (p.Pro15955Leu)
c.21758C>T (p.Pro7253Leu)
c.21617C>T (p.Pro7206Leu)
c.47660C>T (p.Pro15887Leu)
c.43058C>T (p.Pro14353Leu)
c.43055C>T (p.Pro14352Leu)
c.40097C>T (p.Pro13366Leu)
c.21713C>T (p.Pro7238Leu)
c.43208C>T (p.Pro14403Leu)
c.43205C>T (p.Pro14402Leu)
c.42638C>T (p.Pro14213Leu)
c.39980C>T (p.Pro13327Leu)
c.39899C>T (p.Pro13300Leu)
c.21662C>T (p.Pro7221Leu)
c.11516C>T (p.Pro3839Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.178614747G>CCA349608064TTN,TTN-AS1c.41063C>G (p.Pro13688Arg)
c.22148C>G (p.Pro7383Arg)
c.21947C>G (p.Pro7316Arg)
c.21572C>G (p.Pro7191Arg)
c.48767C>G (p.Pro16256Arg)
c.43844C>G (p.Pro14615Arg)
n.1495G>C
c.47864C>G (p.Pro15955Arg)
c.21758C>G (p.Pro7253Arg)
c.21617C>G (p.Pro7206Arg)
c.47660C>G (p.Pro15887Arg)
c.43058C>G (p.Pro14353Arg)
c.43055C>G (p.Pro14352Arg)
c.40097C>G (p.Pro13366Arg)
c.21713C>G (p.Pro7238Arg)
c.43208C>G (p.Pro14403Arg)
c.43205C>G (p.Pro14402Arg)
c.42638C>G (p.Pro14213Arg)
c.39980C>G (p.Pro13327Arg)
c.39899C>G (p.Pro13300Arg)
c.21662C>G (p.Pro7221Arg)
c.11516C>G (p.Pro3839Arg)
2g.178614747G=CA1310549495TTN,TTN-AS1c.41063C= (p.Pro13688=)
c.22148C= (p.Pro7383=)
c.21947C= (p.Pro7316=)
c.21572C= (p.Pro7191=)
c.48767C= (p.Pro16256=)
c.43844C= (p.Pro14615=)
n.1495G=
c.47864C= (p.Pro15955=)
c.21758C= (p.Pro7253=)
c.21617C= (p.Pro7206=)
c.47660C= (p.Pro15887=)
c.43058C= (p.Pro14353=)
c.43055C= (p.Pro14352=)
c.40097C= (p.Pro13366=)
c.21713C= (p.Pro7238=)
c.43208C= (p.Pro14403=)
c.43205C= (p.Pro14402=)
c.42638C= (p.Pro14213=)
c.39980C= (p.Pro13327=)
c.39899C= (p.Pro13300=)
c.21662C= (p.Pro7221=)
c.11516C= (p.Pro3839=)
2g.178614747G>TCA349608066TTN,TTN-AS1c.41063C>A (p.Pro13688Gln)
c.22148C>A (p.Pro7383Gln)
c.21947C>A (p.Pro7316Gln)
c.21572C>A (p.Pro7191Gln)
c.48767C>A (p.Pro16256Gln)
c.43844C>A (p.Pro14615Gln)
n.1495G>T
c.47864C>A (p.Pro15955Gln)
c.21758C>A (p.Pro7253Gln)
c.21617C>A (p.Pro7206Gln)
c.47660C>A (p.Pro15887Gln)
c.43058C>A (p.Pro14353Gln)
c.43055C>A (p.Pro14352Gln)
c.40097C>A (p.Pro13366Gln)
c.21713C>A (p.Pro7238Gln)
c.43208C>A (p.Pro14403Gln)
c.43205C>A (p.Pro14402Gln)
c.42638C>A (p.Pro14213Gln)
c.39980C>A (p.Pro13327Gln)
c.39899C>A (p.Pro13300Gln)
c.21662C>A (p.Pro7221Gln)
c.11516C>A (p.Pro3839Gln)
2g.178614750dupCA2740096139TTN,TTN-AS1c.41063dup (p.Glu13689ArgfsTer21)
c.22148dup (p.Glu7384ArgfsTer21)
c.21947dup (p.Glu7317ArgfsTer21)
c.21572dup (p.Glu7192ArgfsTer21)
c.48767dup (p.Glu16257ArgfsTer21)
c.43844dup (p.Glu14616ArgfsTer21)
n.1498dup
c.47864dup (p.Glu15956ArgfsTer21)
c.21758dup (p.Glu7254ArgfsTer21)
c.21617dup (p.Glu7207ArgfsTer21)
c.47660dup (p.Glu15888ArgfsTer21)
c.43058dup (p.Glu14354ArgfsTer21)
c.43055dup (p.Glu14353ArgfsTer21)
c.40097dup (p.Glu13367ArgfsTer21)
c.21713dup (p.Glu7239ArgfsTer21)
c.43208dup (p.Glu14404ArgfsTer21)
c.43205dup (p.Glu14403ArgfsTer21)
c.42638dup (p.Glu14214ArgfsTer21)
c.39980dup (p.Glu13328ArgfsTer21)
c.39899dup (p.Glu13301ArgfsTer21)
c.21662dup (p.Glu7222ArgfsTer21)
c.11516dup (p.Glu3840ArgfsTer21)
 ClinVar
2g.178614748G>ACA349608070TTN,TTN-AS1c.41062C>T (p.Pro13688Ser)
c.22147C>T (p.Pro7383Ser)
c.21946C>T (p.Pro7316Ser)
c.21571C>T (p.Pro7191Ser)
c.48766C>T (p.Pro16256Ser)
c.43843C>T (p.Pro14615Ser)
n.1496G>A
c.47863C>T (p.Pro15955Ser)
c.21757C>T (p.Pro7253Ser)
c.21616C>T (p.Pro7206Ser)
c.47659C>T (p.Pro15887Ser)
c.43057C>T (p.Pro14353Ser)
c.43054C>T (p.Pro14352Ser)
c.40096C>T (p.Pro13366Ser)
c.21712C>T (p.Pro7238Ser)
c.43207C>T (p.Pro14403Ser)
c.43204C>T (p.Pro14402Ser)
c.42637C>T (p.Pro14213Ser)
c.39979C>T (p.Pro13327Ser)
c.39898C>T (p.Pro13300Ser)
c.21661C>T (p.Pro7221Ser)
c.11515C>T (p.Pro3839Ser)
2g.178614748G>CCA349608071TTN,TTN-AS1c.41062C>G (p.Pro13688Ala)
c.22147C>G (p.Pro7383Ala)
c.21946C>G (p.Pro7316Ala)
c.21571C>G (p.Pro7191Ala)
c.48766C>G (p.Pro16256Ala)
c.43843C>G (p.Pro14615Ala)
n.1496G>C
c.47863C>G (p.Pro15955Ala)
c.21757C>G (p.Pro7253Ala)
c.21616C>G (p.Pro7206Ala)
c.47659C>G (p.Pro15887Ala)
c.43057C>G (p.Pro14353Ala)
c.43054C>G (p.Pro14352Ala)
c.40096C>G (p.Pro13366Ala)
c.21712C>G (p.Pro7238Ala)
c.43207C>G (p.Pro14403Ala)
c.43204C>G (p.Pro14402Ala)
c.42637C>G (p.Pro14213Ala)
c.39979C>G (p.Pro13327Ala)
c.39898C>G (p.Pro13300Ala)
c.21661C>G (p.Pro7221Ala)
c.11515C>G (p.Pro3839Ala)
2g.178614748G=CA1310549496TTN,TTN-AS1c.41062C= (p.Pro13688=)
c.22147C= (p.Pro7383=)
c.21946C= (p.Pro7316=)
c.21571C= (p.Pro7191=)
c.48766C= (p.Pro16256=)
c.43843C= (p.Pro14615=)
n.1496G=
c.47863C= (p.Pro15955=)
c.21757C= (p.Pro7253=)
c.21616C= (p.Pro7206=)
c.47659C= (p.Pro15887=)
c.43057C= (p.Pro14353=)
c.43054C= (p.Pro14352=)
c.40096C= (p.Pro13366=)
c.21712C= (p.Pro7238=)
c.43207C= (p.Pro14403=)
c.43204C= (p.Pro14402=)
c.42637C= (p.Pro14213=)
c.39979C= (p.Pro13327=)
c.39898C= (p.Pro13300=)
c.21661C= (p.Pro7221=)
c.11515C= (p.Pro3839=)
2g.178614748G>TCA309932TTN,TTN-AS1c.41062C>A (p.Pro13688Thr)
c.22147C>A (p.Pro7383Thr)
c.21946C>A (p.Pro7316Thr)
c.21571C>A (p.Pro7191Thr)
c.48766C>A (p.Pro16256Thr)
c.43843C>A (p.Pro14615Thr)
n.1496G>T
c.47863C>A (p.Pro15955Thr)
c.21757C>A (p.Pro7253Thr)
c.21616C>A (p.Pro7206Thr)
c.47659C>A (p.Pro15887Thr)
c.43057C>A (p.Pro14353Thr)
c.43054C>A (p.Pro14352Thr)
c.40096C>A (p.Pro13366Thr)
c.21712C>A (p.Pro7238Thr)
c.43207C>A (p.Pro14403Thr)
c.43204C>A (p.Pro14402Thr)
c.42637C>A (p.Pro14213Thr)
c.39979C>A (p.Pro13327Thr)
c.39898C>A (p.Pro13300Thr)
c.21661C>A (p.Pro7221Thr)
c.11515C>A (p.Pro3839Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178614749G>ACA60987761TTN,TTN-AS1c.41061C>T (p.Ala13687=)
c.22146C>T (p.Ala7382=)
c.21945C>T (p.Ala7315=)
c.21570C>T (p.Ala7190=)
c.48765C>T (p.Ala16255=)
c.43842C>T (p.Ala14614=)
n.1497G>A
c.47862C>T (p.Ala15954=)
c.21756C>T (p.Ala7252=)
c.21615C>T (p.Ala7205=)
c.47658C>T (p.Ala15886=)
c.43056C>T (p.Ala14352=)
c.43053C>T (p.Ala14351=)
c.40095C>T (p.Ala13365=)
c.21711C>T (p.Ala7237=)
c.43206C>T (p.Ala14402=)
c.43203C>T (p.Ala14401=)
c.42636C>T (p.Ala14212=)
c.39978C>T (p.Ala13326=)
c.39897C>T (p.Ala13299=)
c.21660C>T (p.Ala7220=)
c.11514C>T (p.Ala3838=)
 ClinVar dbSNP gnomAD v2
2g.178614749G>CCA430104096TTN,TTN-AS1c.41061C>G (p.Ala13687=)
c.22146C>G (p.Ala7382=)
c.21945C>G (p.Ala7315=)
c.21570C>G (p.Ala7190=)
c.48765C>G (p.Ala16255=)
c.43842C>G (p.Ala14614=)
n.1497G>C
c.47862C>G (p.Ala15954=)
c.21756C>G (p.Ala7252=)
c.21615C>G (p.Ala7205=)
c.47658C>G (p.Ala15886=)
c.43056C>G (p.Ala14352=)
c.43053C>G (p.Ala14351=)
c.40095C>G (p.Ala13365=)
c.21711C>G (p.Ala7237=)
c.43206C>G (p.Ala14402=)
c.43203C>G (p.Ala14401=)
c.42636C>G (p.Ala14212=)
c.39978C>G (p.Ala13326=)
c.39897C>G (p.Ala13299=)
c.21660C>G (p.Ala7220=)
c.11514C>G (p.Ala3838=)
2g.178614749G=CA1310549497TTN,TTN-AS1c.41061C= (p.Ala13687=)
c.22146C= (p.Ala7382=)
c.21945C= (p.Ala7315=)
c.21570C= (p.Ala7190=)
c.48765C= (p.Ala16255=)
c.43842C= (p.Ala14614=)
n.1497G=
c.47862C= (p.Ala15954=)
c.21756C= (p.Ala7252=)
c.21615C= (p.Ala7205=)
c.47658C= (p.Ala15886=)
c.43056C= (p.Ala14352=)
c.43053C= (p.Ala14351=)
c.40095C= (p.Ala13365=)
c.21711C= (p.Ala7237=)
c.43206C= (p.Ala14402=)
c.43203C= (p.Ala14401=)
c.42636C= (p.Ala14212=)
c.39978C= (p.Ala13326=)
c.39897C= (p.Ala13299=)
c.21660C= (p.Ala7220=)
c.11514C= (p.Ala3838=)
2g.178614749G>TCA430104097TTN,TTN-AS1c.41061C>A (p.Ala13687=)
c.22146C>A (p.Ala7382=)
c.21945C>A (p.Ala7315=)
c.21570C>A (p.Ala7190=)
c.48765C>A (p.Ala16255=)
c.43842C>A (p.Ala14614=)
n.1497G>T
c.47862C>A (p.Ala15954=)
c.21756C>A (p.Ala7252=)
c.21615C>A (p.Ala7205=)
c.47658C>A (p.Ala15886=)
c.43056C>A (p.Ala14352=)
c.43053C>A (p.Ala14351=)
c.40095C>A (p.Ala13365=)
c.21711C>A (p.Ala7237=)
c.43206C>A (p.Ala14402=)
c.43203C>A (p.Ala14401=)
c.42636C>A (p.Ala14212=)
c.39978C>A (p.Ala13326=)
c.39897C>A (p.Ala13299=)
c.21660C>A (p.Ala7220=)
c.11514C>A (p.Ala3838=)
2g.178614750G>ACA349608075TTN,TTN-AS1c.41060C>T (p.Ala13687Val)
c.22145C>T (p.Ala7382Val)
c.21944C>T (p.Ala7315Val)
c.21569C>T (p.Ala7190Val)
c.48764C>T (p.Ala16255Val)
c.43841C>T (p.Ala14614Val)
n.1498G>A
c.47861C>T (p.Ala15954Val)
c.21755C>T (p.Ala7252Val)
c.21614C>T (p.Ala7205Val)
c.47657C>T (p.Ala15886Val)
c.43055C>T (p.Ala14352Val)
c.43052C>T (p.Ala14351Val)
c.40094C>T (p.Ala13365Val)
c.21710C>T (p.Ala7237Val)
c.43205C>T (p.Ala14402Val)
c.43202C>T (p.Ala14401Val)
c.42635C>T (p.Ala14212Val)
c.39977C>T (p.Ala13326Val)
c.39896C>T (p.Ala13299Val)
c.21659C>T (p.Ala7220Val)
c.11513C>T (p.Ala3838Val)
 dbSNP
2g.178614750G>CCA349608076TTN,TTN-AS1c.41060C>G (p.Ala13687Gly)
c.22145C>G (p.Ala7382Gly)
c.21944C>G (p.Ala7315Gly)
c.21569C>G (p.Ala7190Gly)
c.48764C>G (p.Ala16255Gly)
c.43841C>G (p.Ala14614Gly)
n.1498G>C
c.47861C>G (p.Ala15954Gly)
c.21755C>G (p.Ala7252Gly)
c.21614C>G (p.Ala7205Gly)
c.47657C>G (p.Ala15886Gly)
c.43055C>G (p.Ala14352Gly)
c.43052C>G (p.Ala14351Gly)
c.40094C>G (p.Ala13365Gly)
c.21710C>G (p.Ala7237Gly)
c.43205C>G (p.Ala14402Gly)
c.43202C>G (p.Ala14401Gly)
c.42635C>G (p.Ala14212Gly)
c.39977C>G (p.Ala13326Gly)
c.39896C>G (p.Ala13299Gly)
c.21659C>G (p.Ala7220Gly)
c.11513C>G (p.Ala3838Gly)
2g.178614750G=CA1310549498TTN,TTN-AS1c.41060C= (p.Ala13687=)
c.22145C= (p.Ala7382=)
c.21944C= (p.Ala7315=)
c.21569C= (p.Ala7190=)
c.48764C= (p.Ala16255=)
c.43841C= (p.Ala14614=)
n.1498G=
c.47861C= (p.Ala15954=)
c.21755C= (p.Ala7252=)
c.21614C= (p.Ala7205=)
c.47657C= (p.Ala15886=)
c.43055C= (p.Ala14352=)
c.43052C= (p.Ala14351=)
c.40094C= (p.Ala13365=)
c.21710C= (p.Ala7237=)
c.43205C= (p.Ala14402=)
c.43202C= (p.Ala14401=)
c.42635C= (p.Ala14212=)
c.39977C= (p.Ala13326=)
c.39896C= (p.Ala13299=)
c.21659C= (p.Ala7220=)
c.11513C= (p.Ala3838=)
2g.178614750G>TCA349608078TTN,TTN-AS1c.41060C>A (p.Ala13687Asp)
c.22145C>A (p.Ala7382Asp)
c.21944C>A (p.Ala7315Asp)
c.21569C>A (p.Ala7190Asp)
c.48764C>A (p.Ala16255Asp)
c.43841C>A (p.Ala14614Asp)
n.1498G>T
c.47861C>A (p.Ala15954Asp)
c.21755C>A (p.Ala7252Asp)
c.21614C>A (p.Ala7205Asp)
c.47657C>A (p.Ala15886Asp)
c.43055C>A (p.Ala14352Asp)
c.43052C>A (p.Ala14351Asp)
c.40094C>A (p.Ala13365Asp)
c.21710C>A (p.Ala7237Asp)
c.43205C>A (p.Ala14402Asp)
c.43202C>A (p.Ala14401Asp)
c.42635C>A (p.Ala14212Asp)
c.39977C>A (p.Ala13326Asp)
c.39896C>A (p.Ala13299Asp)
c.21659C>A (p.Ala7220Asp)
c.11513C>A (p.Ala3838Asp)
2g.178614751C>ACA349608080TTN,TTN-AS1c.41059G>T (p.Ala13687Ser)
c.22144G>T (p.Ala7382Ser)
c.21943G>T (p.Ala7315Ser)
c.21568G>T (p.Ala7190Ser)
c.48763G>T (p.Ala16255Ser)
c.43840G>T (p.Ala14614Ser)
n.1499C>A
c.47860G>T (p.Ala15954Ser)
c.21754G>T (p.Ala7252Ser)
c.21613G>T (p.Ala7205Ser)
c.47656G>T (p.Ala15886Ser)
c.43054G>T (p.Ala14352Ser)
c.43051G>T (p.Ala14351Ser)
c.40093G>T (p.Ala13365Ser)
c.21709G>T (p.Ala7237Ser)
c.43204G>T (p.Ala14402Ser)
c.43201G>T (p.Ala14401Ser)
c.42634G>T (p.Ala14212Ser)
c.39976G>T (p.Ala13326Ser)
c.39895G>T (p.Ala13299Ser)
c.21658G>T (p.Ala7220Ser)
c.11512G>T (p.Ala3838Ser)
2g.178614751C>GCA349608082TTN,TTN-AS1c.41059G>C (p.Ala13687Pro)
c.22144G>C (p.Ala7382Pro)
c.21943G>C (p.Ala7315Pro)
c.21568G>C (p.Ala7190Pro)
c.48763G>C (p.Ala16255Pro)
c.43840G>C (p.Ala14614Pro)
n.1499C>G
c.47860G>C (p.Ala15954Pro)
c.21754G>C (p.Ala7252Pro)
c.21613G>C (p.Ala7205Pro)
c.47656G>C (p.Ala15886Pro)
c.43054G>C (p.Ala14352Pro)
c.43051G>C (p.Ala14351Pro)
c.40093G>C (p.Ala13365Pro)
c.21709G>C (p.Ala7237Pro)
c.43204G>C (p.Ala14402Pro)
c.43201G>C (p.Ala14401Pro)
c.42634G>C (p.Ala14212Pro)
c.39976G>C (p.Ala13326Pro)
c.39895G>C (p.Ala13299Pro)
c.21658G>C (p.Ala7220Pro)
c.11512G>C (p.Ala3838Pro)
2g.178614751C>TCA349608084TTN,TTN-AS1c.41059G>A (p.Ala13687Thr)
c.22144G>A (p.Ala7382Thr)
c.21943G>A (p.Ala7315Thr)
c.21568G>A (p.Ala7190Thr)
c.48763G>A (p.Ala16255Thr)
c.43840G>A (p.Ala14614Thr)
n.1499C>T
c.47860G>A (p.Ala15954Thr)
c.21754G>A (p.Ala7252Thr)
c.21613G>A (p.Ala7205Thr)
c.47656G>A (p.Ala15886Thr)
c.43054G>A (p.Ala14352Thr)
c.43051G>A (p.Ala14351Thr)
c.40093G>A (p.Ala13365Thr)
c.21709G>A (p.Ala7237Thr)
c.43204G>A (p.Ala14402Thr)
c.43201G>A (p.Ala14401Thr)
c.42634G>A (p.Ala14212Thr)
c.39976G>A (p.Ala13326Thr)
c.39895G>A (p.Ala13299Thr)
c.21658G>A (p.Ala7220Thr)
c.11512G>A (p.Ala3838Thr)
 gnomAD v4
2g.178614752C>ACA349608086TTN,TTN-AS1c.41058G>T (p.Glu13686Asp)
c.22143G>T (p.Glu7381Asp)
c.21942G>T (p.Glu7314Asp)
c.21567G>T (p.Glu7189Asp)
c.48762G>T (p.Glu16254Asp)
c.43839G>T (p.Glu14613Asp)
n.1500C>A
c.47859G>T (p.Glu15953Asp)
c.21753G>T (p.Glu7251Asp)
c.21612G>T (p.Glu7204Asp)
c.47655G>T (p.Glu15885Asp)
c.43053G>T (p.Glu14351Asp)
c.43050G>T (p.Glu14350Asp)
c.40092G>T (p.Glu13364Asp)
c.21708G>T (p.Glu7236Asp)
c.43203G>T (p.Glu14401Asp)
c.43200G>T (p.Glu14400Asp)
c.42633G>T (p.Glu14211Asp)
c.39975G>T (p.Glu13325Asp)
c.39894G>T (p.Glu13298Asp)
c.21657G>T (p.Glu7219Asp)
c.11511G>T (p.Glu3837Asp)
2g.178614752C=CA1310549499TTN,TTN-AS1c.41058G= (p.Glu13686=)
c.22143G= (p.Glu7381=)
c.21942G= (p.Glu7314=)
c.21567G= (p.Glu7189=)
c.48762G= (p.Glu16254=)
c.43839G= (p.Glu14613=)
n.1500C=
c.47859G= (p.Glu15953=)
c.21753G= (p.Glu7251=)
c.21612G= (p.Glu7204=)
c.47655G= (p.Glu15885=)
c.43053G= (p.Glu14351=)
c.43050G= (p.Glu14350=)
c.40092G= (p.Glu13364=)
c.21708G= (p.Glu7236=)
c.43203G= (p.Glu14401=)
c.43200G= (p.Glu14400=)
c.42633G= (p.Glu14211=)
c.39975G= (p.Glu13325=)
c.39894G= (p.Glu13298=)
c.21657G= (p.Glu7219=)
c.11511G= (p.Glu3837=)
2g.178614752C>GCA349608087TTN,TTN-AS1c.41058G>C (p.Glu13686Asp)
c.22143G>C (p.Glu7381Asp)
c.21942G>C (p.Glu7314Asp)
c.21567G>C (p.Glu7189Asp)
c.48762G>C (p.Glu16254Asp)
c.43839G>C (p.Glu14613Asp)
n.1500C>G
c.47859G>C (p.Glu15953Asp)
c.21753G>C (p.Glu7251Asp)
c.21612G>C (p.Glu7204Asp)
c.47655G>C (p.Glu15885Asp)
c.43053G>C (p.Glu14351Asp)
c.43050G>C (p.Glu14350Asp)
c.40092G>C (p.Glu13364Asp)
c.21708G>C (p.Glu7236Asp)
c.43203G>C (p.Glu14401Asp)
c.43200G>C (p.Glu14400Asp)
c.42633G>C (p.Glu14211Asp)
c.39975G>C (p.Glu13325Asp)
c.39894G>C (p.Glu13298Asp)
c.21657G>C (p.Glu7219Asp)
c.11511G>C (p.Glu3837Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.178614752C>TCA430104101TTN,TTN-AS1c.41058G>A (p.Glu13686=)
c.22143G>A (p.Glu7381=)
c.21942G>A (p.Glu7314=)
c.21567G>A (p.Glu7189=)
c.48762G>A (p.Glu16254=)
c.43839G>A (p.Glu14613=)
n.1500C>T
c.47859G>A (p.Glu15953=)
c.21753G>A (p.Glu7251=)
c.21612G>A (p.Glu7204=)
c.47655G>A (p.Glu15885=)
c.43053G>A (p.Glu14351=)
c.43050G>A (p.Glu14350=)
c.40092G>A (p.Glu13364=)
c.21708G>A (p.Glu7236=)
c.43203G>A (p.Glu14401=)
c.43200G>A (p.Glu14400=)
c.42633G>A (p.Glu14211=)
c.39975G>A (p.Glu13325=)
c.39894G>A (p.Glu13298=)
c.21657G>A (p.Glu7219=)
c.11511G>A (p.Glu3837=)
 gnomAD v4
2g.178614753T>ACA349608092TTN,TTN-AS1c.41057A>T (p.Glu13686Val)
c.22142A>T (p.Glu7381Val)
c.21941A>T (p.Glu7314Val)
c.21566A>T (p.Glu7189Val)
c.48761A>T (p.Glu16254Val)
c.43838A>T (p.Glu14613Val)
n.1501T>A
c.47858A>T (p.Glu15953Val)
c.21752A>T (p.Glu7251Val)
c.21611A>T (p.Glu7204Val)
c.47654A>T (p.Glu15885Val)
c.43052A>T (p.Glu14351Val)
c.43049A>T (p.Glu14350Val)
c.40091A>T (p.Glu13364Val)
c.21707A>T (p.Glu7236Val)
c.43202A>T (p.Glu14401Val)
c.43199A>T (p.Glu14400Val)
c.42632A>T (p.Glu14211Val)
c.39974A>T (p.Glu13325Val)
c.39893A>T (p.Glu13298Val)
c.21656A>T (p.Glu7219Val)
c.11510A>T (p.Glu3837Val)
2g.178614753T>CCA349608091TTN,TTN-AS1c.41057A>G (p.Glu13686Gly)
c.22142A>G (p.Glu7381Gly)
c.21941A>G (p.Glu7314Gly)
c.21566A>G (p.Glu7189Gly)
c.48761A>G (p.Glu16254Gly)
c.43838A>G (p.Glu14613Gly)
n.1501T>C
c.47858A>G (p.Glu15953Gly)
c.21752A>G (p.Glu7251Gly)
c.21611A>G (p.Glu7204Gly)
c.47654A>G (p.Glu15885Gly)
c.43052A>G (p.Glu14351Gly)
c.43049A>G (p.Glu14350Gly)
c.40091A>G (p.Glu13364Gly)
c.21707A>G (p.Glu7236Gly)
c.43202A>G (p.Glu14401Gly)
c.43199A>G (p.Glu14400Gly)
c.42632A>G (p.Glu14211Gly)
c.39974A>G (p.Glu13325Gly)
c.39893A>G (p.Glu13298Gly)
c.21656A>G (p.Glu7219Gly)
c.11510A>G (p.Glu3837Gly)
2g.178614753T>GCA349608089TTN,TTN-AS1c.41057A>C (p.Glu13686Ala)
c.22142A>C (p.Glu7381Ala)
c.21941A>C (p.Glu7314Ala)
c.21566A>C (p.Glu7189Ala)
c.48761A>C (p.Glu16254Ala)
c.43838A>C (p.Glu14613Ala)
n.1501T>G
c.47858A>C (p.Glu15953Ala)
c.21752A>C (p.Glu7251Ala)
c.21611A>C (p.Glu7204Ala)
c.47654A>C (p.Glu15885Ala)
c.43052A>C (p.Glu14351Ala)
c.43049A>C (p.Glu14350Ala)
c.40091A>C (p.Glu13364Ala)
c.21707A>C (p.Glu7236Ala)
c.43202A>C (p.Glu14401Ala)
c.43199A>C (p.Glu14400Ala)
c.42632A>C (p.Glu14211Ala)
c.39974A>C (p.Glu13325Ala)
c.39893A>C (p.Glu13298Ala)
c.21656A>C (p.Glu7219Ala)
c.11510A>C (p.Glu3837Ala)
2g.178614754C>ACA349608097TTN,TTN-AS1c.41057-1G>T (n.41057-1G>T)
c.22142-1G>T (n.22142-1G>T)
c.21941-1G>T (n.21941-1G>T)
c.21566-1G>T (n.21566-1G>T)
c.48761-1G>T (n.48761-1G>T)
c.43838-1G>T (n.43838-1G>T)
n.1502C>A
c.47858-1G>T (n.47858-1G>T)
c.21752-1G>T (n.21752-1G>T)
c.21611-1G>T (n.21611-1G>T)
c.47654-1G>T (n.47654-1G>T)
c.43052-1G>T (n.43052-1G>T)
c.43049-1G>T (n.43049-1G>T)
c.40091-1G>T (n.40091-1G>T)
c.21707-1G>T (n.21707-1G>T)
c.43202-1G>T (n.43202-1G>T)
c.43199-1G>T (n.43199-1G>T)
c.42632-1G>T (n.42632-1G>T)
c.39974-1G>T (n.39974-1G>T)
c.39893-1G>T (n.39893-1G>T)
c.21656-1G>T (n.21656-1G>T)
c.11510-1G>T (n.11510-1G>T)
2g.178614754C=CA1310549500TTN,TTN-AS1c.41057-1G= (n.41057-1G=)
c.22142-1G= (n.22142-1G=)
c.21941-1G= (n.21941-1G=)
c.21566-1G= (n.21566-1G=)
c.48761-1G= (n.48761-1G=)
c.43838-1G= (n.43838-1G=)
n.1502C=
c.47858-1G= (n.47858-1G=)
c.21752-1G= (n.21752-1G=)
c.21611-1G= (n.21611-1G=)
c.47654-1G= (n.47654-1G=)
c.43052-1G= (n.43052-1G=)
c.43049-1G= (n.43049-1G=)
c.40091-1G= (n.40091-1G=)
c.21707-1G= (n.21707-1G=)
c.43202-1G= (n.43202-1G=)
c.43199-1G= (n.43199-1G=)
c.42632-1G= (n.42632-1G=)
c.39974-1G= (n.39974-1G=)
c.39893-1G= (n.39893-1G=)
c.21656-1G= (n.21656-1G=)
c.11510-1G= (n.11510-1G=)
2g.178614754C>GCA10576521TTN,TTN-AS1c.41057-1G>C (n.41057-1G>C)
c.22142-1G>C (n.22142-1G>C)
c.21941-1G>C (n.21941-1G>C)
c.21566-1G>C (n.21566-1G>C)
c.48761-1G>C (n.48761-1G>C)
c.43838-1G>C (n.43838-1G>C)
n.1502C>G
c.47858-1G>C (n.47858-1G>C)
c.21752-1G>C (n.21752-1G>C)
c.21611-1G>C (n.21611-1G>C)
c.47654-1G>C (n.47654-1G>C)
c.43052-1G>C (n.43052-1G>C)
c.43049-1G>C (n.43049-1G>C)
c.40091-1G>C (n.40091-1G>C)
c.21707-1G>C (n.21707-1G>C)
c.43202-1G>C (n.43202-1G>C)
c.43199-1G>C (n.43199-1G>C)
c.42632-1G>C (n.42632-1G>C)
c.39974-1G>C (n.39974-1G>C)
c.39893-1G>C (n.39893-1G>C)
c.21656-1G>C (n.21656-1G>C)
c.11510-1G>C (n.11510-1G>C)
 ClinVar dbSNP
2g.178614754C>TCA349608096TTN,TTN-AS1c.41057-1G>A (n.41057-1G>A)
c.22142-1G>A (n.22142-1G>A)
c.21941-1G>A (n.21941-1G>A)
c.21566-1G>A (n.21566-1G>A)
c.48761-1G>A (n.48761-1G>A)
c.43838-1G>A (n.43838-1G>A)
n.1502C>T
c.47858-1G>A (n.47858-1G>A)
c.21752-1G>A (n.21752-1G>A)
c.21611-1G>A (n.21611-1G>A)
c.47654-1G>A (n.47654-1G>A)
c.43052-1G>A (n.43052-1G>A)
c.43049-1G>A (n.43049-1G>A)
c.40091-1G>A (n.40091-1G>A)
c.21707-1G>A (n.21707-1G>A)
c.43202-1G>A (n.43202-1G>A)
c.43199-1G>A (n.43199-1G>A)
c.42632-1G>A (n.42632-1G>A)
c.39974-1G>A (n.39974-1G>A)
c.39893-1G>A (n.39893-1G>A)
c.21656-1G>A (n.21656-1G>A)
c.11510-1G>A (n.11510-1G>A)
2g.178614755T>ACA349608099TTN,TTN-AS1c.41057-2A>T (n.41057-2A>T)
c.22142-2A>T (n.22142-2A>T)
c.21941-2A>T (n.21941-2A>T)
c.21566-2A>T (n.21566-2A>T)
c.48761-2A>T (n.48761-2A>T)
c.43838-2A>T (n.43838-2A>T)
n.1503T>A
c.47858-2A>T (n.47858-2A>T)
c.21752-2A>T (n.21752-2A>T)
c.21611-2A>T (n.21611-2A>T)
c.47654-2A>T (n.47654-2A>T)
c.43052-2A>T (n.43052-2A>T)
c.43049-2A>T (n.43049-2A>T)
c.40091-2A>T (n.40091-2A>T)
c.21707-2A>T (n.21707-2A>T)
c.43202-2A>T (n.43202-2A>T)
c.43199-2A>T (n.43199-2A>T)
c.42632-2A>T (n.42632-2A>T)
c.39974-2A>T (n.39974-2A>T)
c.39893-2A>T (n.39893-2A>T)
c.21656-2A>T (n.21656-2A>T)
c.11510-2A>T (n.11510-2A>T)
2g.178614755T>CCA349608101TTN,TTN-AS1c.41057-2A>G (n.41057-2A>G)
c.22142-2A>G (n.22142-2A>G)
c.21941-2A>G (n.21941-2A>G)
c.21566-2A>G (n.21566-2A>G)
c.48761-2A>G (n.48761-2A>G)
c.43838-2A>G (n.43838-2A>G)
n.1503T>C
c.47858-2A>G (n.47858-2A>G)
c.21752-2A>G (n.21752-2A>G)
c.21611-2A>G (n.21611-2A>G)
c.47654-2A>G (n.47654-2A>G)
c.43052-2A>G (n.43052-2A>G)
c.43049-2A>G (n.43049-2A>G)
c.40091-2A>G (n.40091-2A>G)
c.21707-2A>G (n.21707-2A>G)
c.43202-2A>G (n.43202-2A>G)
c.43199-2A>G (n.43199-2A>G)
c.42632-2A>G (n.42632-2A>G)
c.39974-2A>G (n.39974-2A>G)
c.39893-2A>G (n.39893-2A>G)
c.21656-2A>G (n.21656-2A>G)
c.11510-2A>G (n.11510-2A>G)
2g.178614755T>GCA349608103TTN,TTN-AS1c.41057-2A>C (n.41057-2A>C)
c.22142-2A>C (n.22142-2A>C)
c.21941-2A>C (n.21941-2A>C)
c.21566-2A>C (n.21566-2A>C)
c.48761-2A>C (n.48761-2A>C)
c.43838-2A>C (n.43838-2A>C)
n.1503T>G
c.47858-2A>C (n.47858-2A>C)
c.21752-2A>C (n.21752-2A>C)
c.21611-2A>C (n.21611-2A>C)
c.47654-2A>C (n.47654-2A>C)
c.43052-2A>C (n.43052-2A>C)
c.43049-2A>C (n.43049-2A>C)
c.40091-2A>C (n.40091-2A>C)
c.21707-2A>C (n.21707-2A>C)
c.43202-2A>C (n.43202-2A>C)
c.43199-2A>C (n.43199-2A>C)
c.42632-2A>C (n.42632-2A>C)
c.39974-2A>C (n.39974-2A>C)
c.39893-2A>C (n.39893-2A>C)
c.21656-2A>C (n.21656-2A>C)
c.11510-2A>C (n.11510-2A>C)
2g.178614756G>ACA430104105TTN,TTN-AS1c.41057-3C>T (n.41057-3C>T)
c.22142-3C>T (n.22142-3C>T)
c.21941-3C>T (n.21941-3C>T)
c.21566-3C>T (n.21566-3C>T)
c.48761-3C>T (n.48761-3C>T)
c.43838-3C>T (n.43838-3C>T)
n.1504G>A
c.47858-3C>T (n.47858-3C>T)
c.21752-3C>T (n.21752-3C>T)
c.21611-3C>T (n.21611-3C>T)
c.47654-3C>T (n.47654-3C>T)
c.43052-3C>T (n.43052-3C>T)
c.43049-3C>T (n.43049-3C>T)
c.40091-3C>T (n.40091-3C>T)
c.21707-3C>T (n.21707-3C>T)
c.43202-3C>T (n.43202-3C>T)
c.43199-3C>T (n.43199-3C>T)
c.42632-3C>T (n.42632-3C>T)
c.39974-3C>T (n.39974-3C>T)
c.39893-3C>T (n.39893-3C>T)
c.21656-3C>T (n.21656-3C>T)
c.11510-3C>T (n.11510-3C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.178614756G>CCA430104107TTN,TTN-AS1c.41057-3C>G (n.41057-3C>G)
c.22142-3C>G (n.22142-3C>G)
c.21941-3C>G (n.21941-3C>G)
c.21566-3C>G (n.21566-3C>G)
c.48761-3C>G (n.48761-3C>G)
c.43838-3C>G (n.43838-3C>G)
n.1504G>C
c.47858-3C>G (n.47858-3C>G)
c.21752-3C>G (n.21752-3C>G)
c.21611-3C>G (n.21611-3C>G)
c.47654-3C>G (n.47654-3C>G)
c.43052-3C>G (n.43052-3C>G)
c.43049-3C>G (n.43049-3C>G)
c.40091-3C>G (n.40091-3C>G)
c.21707-3C>G (n.21707-3C>G)
c.43202-3C>G (n.43202-3C>G)
c.43199-3C>G (n.43199-3C>G)
c.42632-3C>G (n.42632-3C>G)
c.39974-3C>G (n.39974-3C>G)
c.39893-3C>G (n.39893-3C>G)
c.21656-3C>G (n.21656-3C>G)
c.11510-3C>G (n.11510-3C>G)
 gnomAD v4
2g.178614756G=CA1310549501TTN,TTN-AS1c.41057-3C= (n.41057-3C=)
c.22142-3C= (n.22142-3C=)
c.21941-3C= (n.21941-3C=)
c.21566-3C= (n.21566-3C=)
c.48761-3C= (n.48761-3C=)
c.43838-3C= (n.43838-3C=)
n.1504G=
c.47858-3C= (n.47858-3C=)
c.21752-3C= (n.21752-3C=)
c.21611-3C= (n.21611-3C=)
c.47654-3C= (n.47654-3C=)
c.43052-3C= (n.43052-3C=)
c.43049-3C= (n.43049-3C=)
c.40091-3C= (n.40091-3C=)
c.21707-3C= (n.21707-3C=)
c.43202-3C= (n.43202-3C=)
c.43199-3C= (n.43199-3C=)
c.42632-3C= (n.42632-3C=)
c.39974-3C= (n.39974-3C=)
c.39893-3C= (n.39893-3C=)
c.21656-3C= (n.21656-3C=)
c.11510-3C= (n.11510-3C=)
2g.178614756G>TCA430104108TTN,TTN-AS1c.41057-3C>A (n.41057-3C>A)
c.22142-3C>A (n.22142-3C>A)
c.21941-3C>A (n.21941-3C>A)
c.21566-3C>A (n.21566-3C>A)
c.48761-3C>A (n.48761-3C>A)
c.43838-3C>A (n.43838-3C>A)
n.1504G>T
c.47858-3C>A (n.47858-3C>A)
c.21752-3C>A (n.21752-3C>A)
c.21611-3C>A (n.21611-3C>A)
c.47654-3C>A (n.47654-3C>A)
c.43052-3C>A (n.43052-3C>A)
c.43049-3C>A (n.43049-3C>A)
c.40091-3C>A (n.40091-3C>A)
c.21707-3C>A (n.21707-3C>A)
c.43202-3C>A (n.43202-3C>A)
c.43199-3C>A (n.43199-3C>A)
c.42632-3C>A (n.42632-3C>A)
c.39974-3C>A (n.39974-3C>A)
c.39893-3C>A (n.39893-3C>A)
c.21656-3C>A (n.21656-3C>A)
c.11510-3C>A (n.11510-3C>A)
2g.178614757A>CCA430104109TTN,TTN-AS1c.41057-4T>G (n.41057-4T>G)
c.22142-4T>G (n.22142-4T>G)
c.21941-4T>G (n.21941-4T>G)
c.21566-4T>G (n.21566-4T>G)
c.48761-4T>G (n.48761-4T>G)
c.43838-4T>G (n.43838-4T>G)
n.1505A>C
c.47858-4T>G (n.47858-4T>G)
c.21752-4T>G (n.21752-4T>G)
c.21611-4T>G (n.21611-4T>G)
c.47654-4T>G (n.47654-4T>G)
c.43052-4T>G (n.43052-4T>G)
c.43049-4T>G (n.43049-4T>G)
c.40091-4T>G (n.40091-4T>G)
c.21707-4T>G (n.21707-4T>G)
c.43202-4T>G (n.43202-4T>G)
c.43199-4T>G (n.43199-4T>G)
c.42632-4T>G (n.42632-4T>G)
c.39974-4T>G (n.39974-4T>G)
c.39893-4T>G (n.39893-4T>G)
c.21656-4T>G (n.21656-4T>G)
c.11510-4T>G (n.11510-4T>G)

Number of alleles fetched