Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178568920G>ACA16603992TTN,TTN-AS1c.69508C>T (p.Gln23170Ter)
c.50593C>T (p.Gln16865Ter)
c.50392C>T (p.Gln16798Ter)
c.50017C>T (p.Gln16673Ter)
c.77212C>T (p.Gln25738Ter)
c.72289C>T (p.Gln24097Ter)
n.447-2380G>A
n.2044-13652G>A
c.76309C>T (p.Gln25437Ter)
c.50203C>T (p.Gln16735Ter)
c.50062C>T (p.Gln16688Ter)
c.76105C>T (p.Gln25369Ter)
c.71503C>T (p.Gln23835Ter)
c.71500C>T (p.Gln23834Ter)
c.68542C>T (p.Gln22848Ter)
c.50158C>T (p.Gln16720Ter)
c.71653C>T (p.Gln23885Ter)
c.71650C>T (p.Gln23884Ter)
c.71083C>T (p.Gln23695Ter)
c.68425C>T (p.Gln22809Ter)
c.68344C>T (p.Gln22782Ter)
c.50107C>T (p.Gln16703Ter)
c.39961C>T (p.Gln13321Ter)
 ClinVar dbSNP gnomAD v4
2g.178568920G>CCA349611871TTN,TTN-AS1c.69508C>G (p.Gln23170Glu)
c.50593C>G (p.Gln16865Glu)
c.50392C>G (p.Gln16798Glu)
c.50017C>G (p.Gln16673Glu)
c.77212C>G (p.Gln25738Glu)
c.72289C>G (p.Gln24097Glu)
n.447-2380G>C
n.2044-13652G>C
c.76309C>G (p.Gln25437Glu)
c.50203C>G (p.Gln16735Glu)
c.50062C>G (p.Gln16688Glu)
c.76105C>G (p.Gln25369Glu)
c.71503C>G (p.Gln23835Glu)
c.71500C>G (p.Gln23834Glu)
c.68542C>G (p.Gln22848Glu)
c.50158C>G (p.Gln16720Glu)
c.71653C>G (p.Gln23885Glu)
c.71650C>G (p.Gln23884Glu)
c.71083C>G (p.Gln23695Glu)
c.68425C>G (p.Gln22809Glu)
c.68344C>G (p.Gln22782Glu)
c.50107C>G (p.Gln16703Glu)
c.39961C>G (p.Gln13321Glu)
2g.178568920G=CA1310530812TTN,TTN-AS1c.69508C= (p.Gln23170=)
c.50593C= (p.Gln16865=)
c.50392C= (p.Gln16798=)
c.50017C= (p.Gln16673=)
c.77212C= (p.Gln25738=)
c.72289C= (p.Gln24097=)
n.447-2380G=
n.2044-13652G=
c.76309C= (p.Gln25437=)
c.50203C= (p.Gln16735=)
c.50062C= (p.Gln16688=)
c.76105C= (p.Gln25369=)
c.71503C= (p.Gln23835=)
c.71500C= (p.Gln23834=)
c.68542C= (p.Gln22848=)
c.50158C= (p.Gln16720=)
c.71653C= (p.Gln23885=)
c.71650C= (p.Gln23884=)
c.71083C= (p.Gln23695=)
c.68425C= (p.Gln22809=)
c.68344C= (p.Gln22782=)
c.50107C= (p.Gln16703=)
c.39961C= (p.Gln13321=)
2g.178568920G>TCA349611872TTN,TTN-AS1c.69508C>A (p.Gln23170Lys)
c.50593C>A (p.Gln16865Lys)
c.50392C>A (p.Gln16798Lys)
c.50017C>A (p.Gln16673Lys)
c.77212C>A (p.Gln25738Lys)
c.72289C>A (p.Gln24097Lys)
n.447-2380G>T
n.2044-13652G>T
c.76309C>A (p.Gln25437Lys)
c.50203C>A (p.Gln16735Lys)
c.50062C>A (p.Gln16688Lys)
c.76105C>A (p.Gln25369Lys)
c.71503C>A (p.Gln23835Lys)
c.71500C>A (p.Gln23834Lys)
c.68542C>A (p.Gln22848Lys)
c.50158C>A (p.Gln16720Lys)
c.71653C>A (p.Gln23885Lys)
c.71650C>A (p.Gln23884Lys)
c.71083C>A (p.Gln23695Lys)
c.68425C>A (p.Gln22809Lys)
c.68344C>A (p.Gln22782Lys)
c.50107C>A (p.Gln16703Lys)
c.39961C>A (p.Gln13321Lys)
 gnomAD v4
2g.178568921C>ACA349611873TTN,TTN-AS1c.69507G>T (p.Met23169Ile)
c.50592G>T (p.Met16864Ile)
c.50391G>T (p.Met16797Ile)
c.50016G>T (p.Met16672Ile)
c.77211G>T (p.Met25737Ile)
c.72288G>T (p.Met24096Ile)
n.447-2379C>A
n.2044-13651C>A
c.76308G>T (p.Met25436Ile)
c.50202G>T (p.Met16734Ile)
c.50061G>T (p.Met16687Ile)
c.76104G>T (p.Met25368Ile)
c.71502G>T (p.Met23834Ile)
c.71499G>T (p.Met23833Ile)
c.68541G>T (p.Met22847Ile)
c.50157G>T (p.Met16719Ile)
c.71652G>T (p.Met23884Ile)
c.71649G>T (p.Met23883Ile)
c.71082G>T (p.Met23694Ile)
c.68424G>T (p.Met22808Ile)
c.68343G>T (p.Met22781Ile)
c.50106G>T (p.Met16702Ile)
c.39960G>T (p.Met13320Ile)
2g.178568921C>GCA349611874TTN,TTN-AS1c.69507G>C (p.Met23169Ile)
c.50592G>C (p.Met16864Ile)
c.50391G>C (p.Met16797Ile)
c.50016G>C (p.Met16672Ile)
c.77211G>C (p.Met25737Ile)
c.72288G>C (p.Met24096Ile)
n.447-2379C>G
n.2044-13651C>G
c.76308G>C (p.Met25436Ile)
c.50202G>C (p.Met16734Ile)
c.50061G>C (p.Met16687Ile)
c.76104G>C (p.Met25368Ile)
c.71502G>C (p.Met23834Ile)
c.71499G>C (p.Met23833Ile)
c.68541G>C (p.Met22847Ile)
c.50157G>C (p.Met16719Ile)
c.71652G>C (p.Met23884Ile)
c.71649G>C (p.Met23883Ile)
c.71082G>C (p.Met23694Ile)
c.68424G>C (p.Met22808Ile)
c.68343G>C (p.Met22781Ile)
c.50106G>C (p.Met16702Ile)
c.39960G>C (p.Met13320Ile)
2g.178568921C>TCA349611875TTN,TTN-AS1c.69507G>A (p.Met23169Ile)
c.50592G>A (p.Met16864Ile)
c.50391G>A (p.Met16797Ile)
c.50016G>A (p.Met16672Ile)
c.77211G>A (p.Met25737Ile)
c.72288G>A (p.Met24096Ile)
n.447-2379C>T
n.2044-13651C>T
c.76308G>A (p.Met25436Ile)
c.50202G>A (p.Met16734Ile)
c.50061G>A (p.Met16687Ile)
c.76104G>A (p.Met25368Ile)
c.71502G>A (p.Met23834Ile)
c.71499G>A (p.Met23833Ile)
c.68541G>A (p.Met22847Ile)
c.50157G>A (p.Met16719Ile)
c.71652G>A (p.Met23884Ile)
c.71649G>A (p.Met23883Ile)
c.71082G>A (p.Met23694Ile)
c.68424G>A (p.Met22808Ile)
c.68343G>A (p.Met22781Ile)
c.50106G>A (p.Met16702Ile)
c.39960G>A (p.Met13320Ile)
2g.178568922A=CA1310530814TTN,TTN-AS1c.69506T= (p.Met23169=)
c.50591T= (p.Met16864=)
c.50390T= (p.Met16797=)
c.50015T= (p.Met16672=)
c.77210T= (p.Met25737=)
c.72287T= (p.Met24096=)
n.447-2378A=
n.2044-13650A=
c.76307T= (p.Met25436=)
c.50201T= (p.Met16734=)
c.50060T= (p.Met16687=)
c.76103T= (p.Met25368=)
c.71501T= (p.Met23834=)
c.71498T= (p.Met23833=)
c.68540T= (p.Met22847=)
c.50156T= (p.Met16719=)
c.71651T= (p.Met23884=)
c.71648T= (p.Met23883=)
c.71081T= (p.Met23694=)
c.68423T= (p.Met22808=)
c.68342T= (p.Met22781=)
c.50105T= (p.Met16702=)
c.39959T= (p.Met13320=)
2g.178568922A>CCA349611878TTN,TTN-AS1c.69506T>G (p.Met23169Arg)
c.50591T>G (p.Met16864Arg)
c.50390T>G (p.Met16797Arg)
c.50015T>G (p.Met16672Arg)
c.77210T>G (p.Met25737Arg)
c.72287T>G (p.Met24096Arg)
n.447-2378A>C
n.2044-13650A>C
c.76307T>G (p.Met25436Arg)
c.50201T>G (p.Met16734Arg)
c.50060T>G (p.Met16687Arg)
c.76103T>G (p.Met25368Arg)
c.71501T>G (p.Met23834Arg)
c.71498T>G (p.Met23833Arg)
c.68540T>G (p.Met22847Arg)
c.50156T>G (p.Met16719Arg)
c.71651T>G (p.Met23884Arg)
c.71648T>G (p.Met23883Arg)
c.71081T>G (p.Met23694Arg)
c.68423T>G (p.Met22808Arg)
c.68342T>G (p.Met22781Arg)
c.50105T>G (p.Met16702Arg)
c.39959T>G (p.Met13320Arg)
2g.178568922A>GCA349611880TTN,TTN-AS1c.69506T>C (p.Met23169Thr)
c.50591T>C (p.Met16864Thr)
c.50390T>C (p.Met16797Thr)
c.50015T>C (p.Met16672Thr)
c.77210T>C (p.Met25737Thr)
c.72287T>C (p.Met24096Thr)
n.447-2378A>G
n.2044-13650A>G
c.76307T>C (p.Met25436Thr)
c.50201T>C (p.Met16734Thr)
c.50060T>C (p.Met16687Thr)
c.76103T>C (p.Met25368Thr)
c.71501T>C (p.Met23834Thr)
c.71498T>C (p.Met23833Thr)
c.68540T>C (p.Met22847Thr)
c.50156T>C (p.Met16719Thr)
c.71651T>C (p.Met23884Thr)
c.71648T>C (p.Met23883Thr)
c.71081T>C (p.Met23694Thr)
c.68423T>C (p.Met22808Thr)
c.68342T>C (p.Met22781Thr)
c.50105T>C (p.Met16702Thr)
c.39959T>C (p.Met13320Thr)
 dbSNP
2g.178568922A>TCA349611876TTN,TTN-AS1c.69506T>A (p.Met23169Lys)
c.50591T>A (p.Met16864Lys)
c.50390T>A (p.Met16797Lys)
c.50015T>A (p.Met16672Lys)
c.77210T>A (p.Met25737Lys)
c.72287T>A (p.Met24096Lys)
n.447-2378A>T
n.2044-13650A>T
c.76307T>A (p.Met25436Lys)
c.50201T>A (p.Met16734Lys)
c.50060T>A (p.Met16687Lys)
c.76103T>A (p.Met25368Lys)
c.71501T>A (p.Met23834Lys)
c.71498T>A (p.Met23833Lys)
c.68540T>A (p.Met22847Lys)
c.50156T>A (p.Met16719Lys)
c.71651T>A (p.Met23884Lys)
c.71648T>A (p.Met23883Lys)
c.71081T>A (p.Met23694Lys)
c.68423T>A (p.Met22808Lys)
c.68342T>A (p.Met22781Lys)
c.50105T>A (p.Met16702Lys)
c.39959T>A (p.Met13320Lys)
2g.178568923T>ACA349611882TTN,TTN-AS1c.69505A>T (p.Met23169Leu)
c.50590A>T (p.Met16864Leu)
c.50389A>T (p.Met16797Leu)
c.50014A>T (p.Met16672Leu)
c.77209A>T (p.Met25737Leu)
c.72286A>T (p.Met24096Leu)
n.447-2377T>A
n.2044-13649T>A
c.76306A>T (p.Met25436Leu)
c.50200A>T (p.Met16734Leu)
c.50059A>T (p.Met16687Leu)
c.76102A>T (p.Met25368Leu)
c.71500A>T (p.Met23834Leu)
c.71497A>T (p.Met23833Leu)
c.68539A>T (p.Met22847Leu)
c.50155A>T (p.Met16719Leu)
c.71650A>T (p.Met23884Leu)
c.71647A>T (p.Met23883Leu)
c.71080A>T (p.Met23694Leu)
c.68422A>T (p.Met22808Leu)
c.68341A>T (p.Met22781Leu)
c.50104A>T (p.Met16702Leu)
c.39958A>T (p.Met13320Leu)
2g.178568923T>CCA349611883TTN,TTN-AS1c.69505A>G (p.Met23169Val)
c.50590A>G (p.Met16864Val)
c.50389A>G (p.Met16797Val)
c.50014A>G (p.Met16672Val)
c.77209A>G (p.Met25737Val)
c.72286A>G (p.Met24096Val)
n.447-2377T>C
n.2044-13649T>C
c.76306A>G (p.Met25436Val)
c.50200A>G (p.Met16734Val)
c.50059A>G (p.Met16687Val)
c.76102A>G (p.Met25368Val)
c.71500A>G (p.Met23834Val)
c.71497A>G (p.Met23833Val)
c.68539A>G (p.Met22847Val)
c.50155A>G (p.Met16719Val)
c.71650A>G (p.Met23884Val)
c.71647A>G (p.Met23883Val)
c.71080A>G (p.Met23694Val)
c.68422A>G (p.Met22808Val)
c.68341A>G (p.Met22781Val)
c.50104A>G (p.Met16702Val)
c.39958A>G (p.Met13320Val)
2g.178568923T>GCA349611886TTN,TTN-AS1c.69505A>C (p.Met23169Leu)
c.50590A>C (p.Met16864Leu)
c.50389A>C (p.Met16797Leu)
c.50014A>C (p.Met16672Leu)
c.77209A>C (p.Met25737Leu)
c.72286A>C (p.Met24096Leu)
n.447-2377T>G
n.2044-13649T>G
c.76306A>C (p.Met25436Leu)
c.50200A>C (p.Met16734Leu)
c.50059A>C (p.Met16687Leu)
c.76102A>C (p.Met25368Leu)
c.71500A>C (p.Met23834Leu)
c.71497A>C (p.Met23833Leu)
c.68539A>C (p.Met22847Leu)
c.50155A>C (p.Met16719Leu)
c.71650A>C (p.Met23884Leu)
c.71647A>C (p.Met23883Leu)
c.71080A>C (p.Met23694Leu)
c.68422A>C (p.Met22808Leu)
c.68341A>C (p.Met22781Leu)
c.50104A>C (p.Met16702Leu)
c.39958A>C (p.Met13320Leu)
2g.178568923T=CA1310530816TTN,TTN-AS1c.69505A= (p.Met23169=)
c.50590A= (p.Met16864=)
c.50389A= (p.Met16797=)
c.50014A= (p.Met16672=)
c.77209A= (p.Met25737=)
c.72286A= (p.Met24096=)
n.447-2377T=
n.2044-13649T=
c.76306A= (p.Met25436=)
c.50200A= (p.Met16734=)
c.50059A= (p.Met16687=)
c.76102A= (p.Met25368=)
c.71500A= (p.Met23834=)
c.71497A= (p.Met23833=)
c.68539A= (p.Met22847=)
c.50155A= (p.Met16719=)
c.71650A= (p.Met23884=)
c.71647A= (p.Met23883=)
c.71080A= (p.Met23694=)
c.68422A= (p.Met22808=)
c.68341A= (p.Met22781=)
c.50104A= (p.Met16702=)
c.39958A= (p.Met13320=)
2g.178568924T>ACA349611891TTN,TTN-AS1c.69504A>T (p.Glu23168Asp)
c.50589A>T (p.Glu16863Asp)
c.50388A>T (p.Glu16796Asp)
c.50013A>T (p.Glu16671Asp)
c.77208A>T (p.Glu25736Asp)
c.72285A>T (p.Glu24095Asp)
n.447-2376T>A
n.2044-13648T>A
c.76305A>T (p.Glu25435Asp)
c.50199A>T (p.Glu16733Asp)
c.50058A>T (p.Glu16686Asp)
c.76101A>T (p.Glu25367Asp)
c.71499A>T (p.Glu23833Asp)
c.71496A>T (p.Glu23832Asp)
c.68538A>T (p.Glu22846Asp)
c.50154A>T (p.Glu16718Asp)
c.71649A>T (p.Glu23883Asp)
c.71646A>T (p.Glu23882Asp)
c.71079A>T (p.Glu23693Asp)
c.68421A>T (p.Glu22807Asp)
c.68340A>T (p.Glu22780Asp)
c.50103A>T (p.Glu16701Asp)
c.39957A>T (p.Glu13319Asp)
2g.178568924T>CCA430253824TTN,TTN-AS1c.69504A>G (p.Glu23168=)
c.50589A>G (p.Glu16863=)
c.50388A>G (p.Glu16796=)
c.50013A>G (p.Glu16671=)
c.77208A>G (p.Glu25736=)
c.72285A>G (p.Glu24095=)
n.447-2376T>C
n.2044-13648T>C
c.76305A>G (p.Glu25435=)
c.50199A>G (p.Glu16733=)
c.50058A>G (p.Glu16686=)
c.76101A>G (p.Glu25367=)
c.71499A>G (p.Glu23833=)
c.71496A>G (p.Glu23832=)
c.68538A>G (p.Glu22846=)
c.50154A>G (p.Glu16718=)
c.71649A>G (p.Glu23883=)
c.71646A>G (p.Glu23882=)
c.71079A>G (p.Glu23693=)
c.68421A>G (p.Glu22807=)
c.68340A>G (p.Glu22780=)
c.50103A>G (p.Glu16701=)
c.39957A>G (p.Glu13319=)
2g.178568924T>GCA349611892TTN,TTN-AS1c.69504A>C (p.Glu23168Asp)
c.50589A>C (p.Glu16863Asp)
c.50388A>C (p.Glu16796Asp)
c.50013A>C (p.Glu16671Asp)
c.77208A>C (p.Glu25736Asp)
c.72285A>C (p.Glu24095Asp)
n.447-2376T>G
n.2044-13648T>G
c.76305A>C (p.Glu25435Asp)
c.50199A>C (p.Glu16733Asp)
c.50058A>C (p.Glu16686Asp)
c.76101A>C (p.Glu25367Asp)
c.71499A>C (p.Glu23833Asp)
c.71496A>C (p.Glu23832Asp)
c.68538A>C (p.Glu22846Asp)
c.50154A>C (p.Glu16718Asp)
c.71649A>C (p.Glu23883Asp)
c.71646A>C (p.Glu23882Asp)
c.71079A>C (p.Glu23693Asp)
c.68421A>C (p.Glu22807Asp)
c.68340A>C (p.Glu22780Asp)
c.50103A>C (p.Glu16701Asp)
c.39957A>C (p.Glu13319Asp)
2g.178568924_178568926dupCA1989806TTN,TTN-AS1c.69502_69504dup (p.Glu23168_Met23169insGlu)
c.50587_50589dup (p.Glu16863_Met16864insGlu)
c.50386_50388dup (p.Glu16796_Met16797insGlu)
c.50011_50013dup (p.Glu16671_Met16672insGlu)
c.77206_77208dup (p.Glu25736_Met25737insGlu)
c.72283_72285dup (p.Glu24095_Met24096insGlu)
n.447-2376_447-2374dup
n.2044-13648_2044-13646dup
c.76303_76305dup (p.Glu25435_Met25436insGlu)
c.50197_50199dup (p.Glu16733_Met16734insGlu)
c.50056_50058dup (p.Glu16686_Met16687insGlu)
c.76099_76101dup (p.Glu25367_Met25368insGlu)
c.71497_71499dup (p.Glu23833_Met23834insGlu)
c.71494_71496dup (p.Glu23832_Met23833insGlu)
c.68536_68538dup (p.Glu22846_Met22847insGlu)
c.50152_50154dup (p.Glu16718_Met16719insGlu)
c.71647_71649dup (p.Glu23883_Met23884insGlu)
c.71644_71646dup (p.Glu23882_Met23883insGlu)
c.71077_71079dup (p.Glu23693_Met23694insGlu)
c.68419_68421dup (p.Glu22807_Met22808insGlu)
c.68338_68340dup (p.Glu22780_Met22781insGlu)
c.50101_50103dup (p.Glu16701_Met16702insGlu)
c.39955_39957dup (p.Glu13319_Met13320insGlu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178568925T>ACA349611896TTN,TTN-AS1c.69503A>T (p.Glu23168Val)
c.50588A>T (p.Glu16863Val)
c.50387A>T (p.Glu16796Val)
c.50012A>T (p.Glu16671Val)
c.77207A>T (p.Glu25736Val)
c.72284A>T (p.Glu24095Val)
n.447-2375T>A
n.2044-13647T>A
c.76304A>T (p.Glu25435Val)
c.50198A>T (p.Glu16733Val)
c.50057A>T (p.Glu16686Val)
c.76100A>T (p.Glu25367Val)
c.71498A>T (p.Glu23833Val)
c.71495A>T (p.Glu23832Val)
c.68537A>T (p.Glu22846Val)
c.50153A>T (p.Glu16718Val)
c.71648A>T (p.Glu23883Val)
c.71645A>T (p.Glu23882Val)
c.71078A>T (p.Glu23693Val)
c.68420A>T (p.Glu22807Val)
c.68339A>T (p.Glu22780Val)
c.50102A>T (p.Glu16701Val)
c.39956A>T (p.Glu13319Val)
2g.178568925T>CCA349611900TTN,TTN-AS1c.69503A>G (p.Glu23168Gly)
c.50588A>G (p.Glu16863Gly)
c.50387A>G (p.Glu16796Gly)
c.50012A>G (p.Glu16671Gly)
c.77207A>G (p.Glu25736Gly)
c.72284A>G (p.Glu24095Gly)
n.447-2375T>C
n.2044-13647T>C
c.76304A>G (p.Glu25435Gly)
c.50198A>G (p.Glu16733Gly)
c.50057A>G (p.Glu16686Gly)
c.76100A>G (p.Glu25367Gly)
c.71498A>G (p.Glu23833Gly)
c.71495A>G (p.Glu23832Gly)
c.68537A>G (p.Glu22846Gly)
c.50153A>G (p.Glu16718Gly)
c.71648A>G (p.Glu23883Gly)
c.71645A>G (p.Glu23882Gly)
c.71078A>G (p.Glu23693Gly)
c.68420A>G (p.Glu22807Gly)
c.68339A>G (p.Glu22780Gly)
c.50102A>G (p.Glu16701Gly)
c.39956A>G (p.Glu13319Gly)
2g.178568925T>GCA349611898TTN,TTN-AS1c.69503A>C (p.Glu23168Ala)
c.50588A>C (p.Glu16863Ala)
c.50387A>C (p.Glu16796Ala)
c.50012A>C (p.Glu16671Ala)
c.77207A>C (p.Glu25736Ala)
c.72284A>C (p.Glu24095Ala)
n.447-2375T>G
n.2044-13647T>G
c.76304A>C (p.Glu25435Ala)
c.50198A>C (p.Glu16733Ala)
c.50057A>C (p.Glu16686Ala)
c.76100A>C (p.Glu25367Ala)
c.71498A>C (p.Glu23833Ala)
c.71495A>C (p.Glu23832Ala)
c.68537A>C (p.Glu22846Ala)
c.50153A>C (p.Glu16718Ala)
c.71648A>C (p.Glu23883Ala)
c.71645A>C (p.Glu23882Ala)
c.71078A>C (p.Glu23693Ala)
c.68420A>C (p.Glu22807Ala)
c.68339A>C (p.Glu22780Ala)
c.50102A>C (p.Glu16701Ala)
c.39956A>C (p.Glu13319Ala)
2g.178568926C>ACA349611903TTN,TTN-AS1c.69502G>T (p.Glu23168Ter)
c.50587G>T (p.Glu16863Ter)
c.50386G>T (p.Glu16796Ter)
c.50011G>T (p.Glu16671Ter)
c.77206G>T (p.Glu25736Ter)
c.72283G>T (p.Glu24095Ter)
n.447-2374C>A
n.2044-13646C>A
c.76303G>T (p.Glu25435Ter)
c.50197G>T (p.Glu16733Ter)
c.50056G>T (p.Glu16686Ter)
c.76099G>T (p.Glu25367Ter)
c.71497G>T (p.Glu23833Ter)
c.71494G>T (p.Glu23832Ter)
c.68536G>T (p.Glu22846Ter)
c.50152G>T (p.Glu16718Ter)
c.71647G>T (p.Glu23883Ter)
c.71644G>T (p.Glu23882Ter)
c.71077G>T (p.Glu23693Ter)
c.68419G>T (p.Glu22807Ter)
c.68338G>T (p.Glu22780Ter)
c.50101G>T (p.Glu16701Ter)
c.39955G>T (p.Glu13319Ter)
2g.178568926C>GCA349611905TTN,TTN-AS1c.69502G>C (p.Glu23168Gln)
c.50587G>C (p.Glu16863Gln)
c.50386G>C (p.Glu16796Gln)
c.50011G>C (p.Glu16671Gln)
c.77206G>C (p.Glu25736Gln)
c.72283G>C (p.Glu24095Gln)
n.447-2374C>G
n.2044-13646C>G
c.76303G>C (p.Glu25435Gln)
c.50197G>C (p.Glu16733Gln)
c.50056G>C (p.Glu16686Gln)
c.76099G>C (p.Glu25367Gln)
c.71497G>C (p.Glu23833Gln)
c.71494G>C (p.Glu23832Gln)
c.68536G>C (p.Glu22846Gln)
c.50152G>C (p.Glu16718Gln)
c.71647G>C (p.Glu23883Gln)
c.71644G>C (p.Glu23882Gln)
c.71077G>C (p.Glu23693Gln)
c.68419G>C (p.Glu22807Gln)
c.68338G>C (p.Glu22780Gln)
c.50101G>C (p.Glu16701Gln)
c.39955G>C (p.Glu13319Gln)
 gnomAD v4
2g.178568926C>TCA349611907TTN,TTN-AS1c.69502G>A (p.Glu23168Lys)
c.50587G>A (p.Glu16863Lys)
c.50386G>A (p.Glu16796Lys)
c.50011G>A (p.Glu16671Lys)
c.77206G>A (p.Glu25736Lys)
c.72283G>A (p.Glu24095Lys)
n.447-2374C>T
n.2044-13646C>T
c.76303G>A (p.Glu25435Lys)
c.50197G>A (p.Glu16733Lys)
c.50056G>A (p.Glu16686Lys)
c.76099G>A (p.Glu25367Lys)
c.71497G>A (p.Glu23833Lys)
c.71494G>A (p.Glu23832Lys)
c.68536G>A (p.Glu22846Lys)
c.50152G>A (p.Glu16718Lys)
c.71647G>A (p.Glu23883Lys)
c.71644G>A (p.Glu23882Lys)
c.71077G>A (p.Glu23693Lys)
c.68419G>A (p.Glu22807Lys)
c.68338G>A (p.Glu22780Lys)
c.50101G>A (p.Glu16701Lys)
c.39955G>A (p.Glu13319Lys)
 gnomAD v4
2g.178568927C>ACA430253826TTN,TTN-AS1c.69501G>T (p.Val23167=)
c.50586G>T (p.Val16862=)
c.50385G>T (p.Val16795=)
c.50010G>T (p.Val16670=)
c.77205G>T (p.Val25735=)
c.72282G>T (p.Val24094=)
n.447-2373C>A
n.2044-13645C>A
c.76302G>T (p.Val25434=)
c.50196G>T (p.Val16732=)
c.50055G>T (p.Val16685=)
c.76098G>T (p.Val25366=)
c.71496G>T (p.Val23832=)
c.71493G>T (p.Val23831=)
c.68535G>T (p.Val22845=)
c.50151G>T (p.Val16717=)
c.71646G>T (p.Val23882=)
c.71643G>T (p.Val23881=)
c.71076G>T (p.Val23692=)
c.68418G>T (p.Val22806=)
c.68337G>T (p.Val22779=)
c.50100G>T (p.Val16700=)
c.39954G>T (p.Val13318=)
 gnomAD v4
2g.178568927C=CA1310530818TTN,TTN-AS1c.69501G= (p.Val23167=)
c.50586G= (p.Val16862=)
c.50385G= (p.Val16795=)
c.50010G= (p.Val16670=)
c.77205G= (p.Val25735=)
c.72282G= (p.Val24094=)
n.447-2373C=
n.2044-13645C=
c.76302G= (p.Val25434=)
c.50196G= (p.Val16732=)
c.50055G= (p.Val16685=)
c.76098G= (p.Val25366=)
c.71496G= (p.Val23832=)
c.71493G= (p.Val23831=)
c.68535G= (p.Val22845=)
c.50151G= (p.Val16717=)
c.71646G= (p.Val23882=)
c.71643G= (p.Val23881=)
c.71076G= (p.Val23692=)
c.68418G= (p.Val22806=)
c.68337G= (p.Val22779=)
c.50100G= (p.Val16700=)
c.39954G= (p.Val13318=)
2g.178568927C>GCA430253827TTN,TTN-AS1c.69501G>C (p.Val23167=)
c.50586G>C (p.Val16862=)
c.50385G>C (p.Val16795=)
c.50010G>C (p.Val16670=)
c.77205G>C (p.Val25735=)
c.72282G>C (p.Val24094=)
n.447-2373C>G
n.2044-13645C>G
c.76302G>C (p.Val25434=)
c.50196G>C (p.Val16732=)
c.50055G>C (p.Val16685=)
c.76098G>C (p.Val25366=)
c.71496G>C (p.Val23832=)
c.71493G>C (p.Val23831=)
c.68535G>C (p.Val22845=)
c.50151G>C (p.Val16717=)
c.71646G>C (p.Val23882=)
c.71643G>C (p.Val23881=)
c.71076G>C (p.Val23692=)
c.68418G>C (p.Val22806=)
c.68337G>C (p.Val22779=)
c.50100G>C (p.Val16700=)
c.39954G>C (p.Val13318=)
2g.178568927C>TCA140774TTN,TTN-AS1c.69501G>A (p.Val23167=)
c.50586G>A (p.Val16862=)
c.50385G>A (p.Val16795=)
c.50010G>A (p.Val16670=)
c.77205G>A (p.Val25735=)
c.72282G>A (p.Val24094=)
n.447-2373C>T
n.2044-13645C>T
c.76302G>A (p.Val25434=)
c.50196G>A (p.Val16732=)
c.50055G>A (p.Val16685=)
c.76098G>A (p.Val25366=)
c.71496G>A (p.Val23832=)
c.71493G>A (p.Val23831=)
c.68535G>A (p.Val22845=)
c.50151G>A (p.Val16717=)
c.71646G>A (p.Val23882=)
c.71643G>A (p.Val23881=)
c.71076G>A (p.Val23692=)
c.68418G>A (p.Val22806=)
c.68337G>A (p.Val22779=)
c.50100G>A (p.Val16700=)
c.39954G>A (p.Val13318=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178568928A>CCA349611917TTN,TTN-AS1c.69500T>G (p.Val23167Gly)
c.50585T>G (p.Val16862Gly)
c.50384T>G (p.Val16795Gly)
c.50009T>G (p.Val16670Gly)
c.77204T>G (p.Val25735Gly)
c.72281T>G (p.Val24094Gly)
n.447-2372A>C
n.2044-13644A>C
c.76301T>G (p.Val25434Gly)
c.50195T>G (p.Val16732Gly)
c.50054T>G (p.Val16685Gly)
c.76097T>G (p.Val25366Gly)
c.71495T>G (p.Val23832Gly)
c.71492T>G (p.Val23831Gly)
c.68534T>G (p.Val22845Gly)
c.50150T>G (p.Val16717Gly)
c.71645T>G (p.Val23882Gly)
c.71642T>G (p.Val23881Gly)
c.71075T>G (p.Val23692Gly)
c.68417T>G (p.Val22806Gly)
c.68336T>G (p.Val22779Gly)
c.50099T>G (p.Val16700Gly)
c.39953T>G (p.Val13318Gly)
2g.178568928A>GCA349611915TTN,TTN-AS1c.69500T>C (p.Val23167Ala)
c.50585T>C (p.Val16862Ala)
c.50384T>C (p.Val16795Ala)
c.50009T>C (p.Val16670Ala)
c.77204T>C (p.Val25735Ala)
c.72281T>C (p.Val24094Ala)
n.447-2372A>G
n.2044-13644A>G
c.76301T>C (p.Val25434Ala)
c.50195T>C (p.Val16732Ala)
c.50054T>C (p.Val16685Ala)
c.76097T>C (p.Val25366Ala)
c.71495T>C (p.Val23832Ala)
c.71492T>C (p.Val23831Ala)
c.68534T>C (p.Val22845Ala)
c.50150T>C (p.Val16717Ala)
c.71645T>C (p.Val23882Ala)
c.71642T>C (p.Val23881Ala)
c.71075T>C (p.Val23692Ala)
c.68417T>C (p.Val22806Ala)
c.68336T>C (p.Val22779Ala)
c.50099T>C (p.Val16700Ala)
c.39953T>C (p.Val13318Ala)
2g.178568928A>TCA349611913TTN,TTN-AS1c.69500T>A (p.Val23167Glu)
c.50585T>A (p.Val16862Glu)
c.50384T>A (p.Val16795Glu)
c.50009T>A (p.Val16670Glu)
c.77204T>A (p.Val25735Glu)
c.72281T>A (p.Val24094Glu)
n.447-2372A>T
n.2044-13644A>T
c.76301T>A (p.Val25434Glu)
c.50195T>A (p.Val16732Glu)
c.50054T>A (p.Val16685Glu)
c.76097T>A (p.Val25366Glu)
c.71495T>A (p.Val23832Glu)
c.71492T>A (p.Val23831Glu)
c.68534T>A (p.Val22845Glu)
c.50150T>A (p.Val16717Glu)
c.71645T>A (p.Val23882Glu)
c.71642T>A (p.Val23881Glu)
c.71075T>A (p.Val23692Glu)
c.68417T>A (p.Val22806Glu)
c.68336T>A (p.Val22779Glu)
c.50099T>A (p.Val16700Glu)
c.39953T>A (p.Val13318Glu)
2g.178568929C>ACA349611920TTN,TTN-AS1c.69499G>T (p.Val23167Leu)
c.50584G>T (p.Val16862Leu)
c.50383G>T (p.Val16795Leu)
c.50008G>T (p.Val16670Leu)
c.77203G>T (p.Val25735Leu)
c.72280G>T (p.Val24094Leu)
n.447-2371C>A
n.2044-13643C>A
c.76300G>T (p.Val25434Leu)
c.50194G>T (p.Val16732Leu)
c.50053G>T (p.Val16685Leu)
c.76096G>T (p.Val25366Leu)
c.71494G>T (p.Val23832Leu)
c.71491G>T (p.Val23831Leu)
c.68533G>T (p.Val22845Leu)
c.50149G>T (p.Val16717Leu)
c.71644G>T (p.Val23882Leu)
c.71641G>T (p.Val23881Leu)
c.71074G>T (p.Val23692Leu)
c.68416G>T (p.Val22806Leu)
c.68335G>T (p.Val22779Leu)
c.50098G>T (p.Val16700Leu)
c.39952G>T (p.Val13318Leu)
2g.178568929C=CA1310530820TTN,TTN-AS1c.69499G= (p.Val23167=)
c.50584G= (p.Val16862=)
c.50383G= (p.Val16795=)
c.50008G= (p.Val16670=)
c.77203G= (p.Val25735=)
c.72280G= (p.Val24094=)
n.447-2371C=
n.2044-13643C=
c.76300G= (p.Val25434=)
c.50194G= (p.Val16732=)
c.50053G= (p.Val16685=)
c.76096G= (p.Val25366=)
c.71494G= (p.Val23832=)
c.71491G= (p.Val23831=)
c.68533G= (p.Val22845=)
c.50149G= (p.Val16717=)
c.71644G= (p.Val23882=)
c.71641G= (p.Val23881=)
c.71074G= (p.Val23692=)
c.68416G= (p.Val22806=)
c.68335G= (p.Val22779=)
c.50098G= (p.Val16700=)
c.39952G= (p.Val13318=)
2g.178568929C>GCA349611925TTN,TTN-AS1c.69499G>C (p.Val23167Leu)
c.50584G>C (p.Val16862Leu)
c.50383G>C (p.Val16795Leu)
c.50008G>C (p.Val16670Leu)
c.77203G>C (p.Val25735Leu)
c.72280G>C (p.Val24094Leu)
n.447-2371C>G
n.2044-13643C>G
c.76300G>C (p.Val25434Leu)
c.50194G>C (p.Val16732Leu)
c.50053G>C (p.Val16685Leu)
c.76096G>C (p.Val25366Leu)
c.71494G>C (p.Val23832Leu)
c.71491G>C (p.Val23831Leu)
c.68533G>C (p.Val22845Leu)
c.50149G>C (p.Val16717Leu)
c.71644G>C (p.Val23882Leu)
c.71641G>C (p.Val23881Leu)
c.71074G>C (p.Val23692Leu)
c.68416G>C (p.Val22806Leu)
c.68335G>C (p.Val22779Leu)
c.50098G>C (p.Val16700Leu)
c.39952G>C (p.Val13318Leu)
2g.178568929C>TCA1989807TTN,TTN-AS1c.69499G>A (p.Val23167Met)
c.50584G>A (p.Val16862Met)
c.50383G>A (p.Val16795Met)
c.50008G>A (p.Val16670Met)
c.77203G>A (p.Val25735Met)
c.72280G>A (p.Val24094Met)
n.447-2371C>T
n.2044-13643C>T
c.76300G>A (p.Val25434Met)
c.50194G>A (p.Val16732Met)
c.50053G>A (p.Val16685Met)
c.76096G>A (p.Val25366Met)
c.71494G>A (p.Val23832Met)
c.71491G>A (p.Val23831Met)
c.68533G>A (p.Val22845Met)
c.50149G>A (p.Val16717Met)
c.71644G>A (p.Val23882Met)
c.71641G>A (p.Val23881Met)
c.71074G>A (p.Val23692Met)
c.68416G>A (p.Val22806Met)
c.68335G>A (p.Val22779Met)
c.50098G>A (p.Val16700Met)
c.39952G>A (p.Val13318Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178568930A>CCA349611928TTN,TTN-AS1c.69498T>G (p.Ile23166Met)
c.50583T>G (p.Ile16861Met)
c.50382T>G (p.Ile16794Met)
c.50007T>G (p.Ile16669Met)
c.77202T>G (p.Ile25734Met)
c.72279T>G (p.Ile24093Met)
n.447-2370A>C
n.2044-13642A>C
c.76299T>G (p.Ile25433Met)
c.50193T>G (p.Ile16731Met)
c.50052T>G (p.Ile16684Met)
c.76095T>G (p.Ile25365Met)
c.71493T>G (p.Ile23831Met)
c.71490T>G (p.Ile23830Met)
c.68532T>G (p.Ile22844Met)
c.50148T>G (p.Ile16716Met)
c.71643T>G (p.Ile23881Met)
c.71640T>G (p.Ile23880Met)
c.71073T>G (p.Ile23691Met)
c.68415T>G (p.Ile22805Met)
c.68334T>G (p.Ile22778Met)
c.50097T>G (p.Ile16699Met)
c.39951T>G (p.Ile13317Met)
2g.178568930A>GCA430253839TTN,TTN-AS1c.69498T>C (p.Ile23166=)
c.50583T>C (p.Ile16861=)
c.50382T>C (p.Ile16794=)
c.50007T>C (p.Ile16669=)
c.77202T>C (p.Ile25734=)
c.72279T>C (p.Ile24093=)
n.447-2370A>G
n.2044-13642A>G
c.76299T>C (p.Ile25433=)
c.50193T>C (p.Ile16731=)
c.50052T>C (p.Ile16684=)
c.76095T>C (p.Ile25365=)
c.71493T>C (p.Ile23831=)
c.71490T>C (p.Ile23830=)
c.68532T>C (p.Ile22844=)
c.50148T>C (p.Ile16716=)
c.71643T>C (p.Ile23881=)
c.71640T>C (p.Ile23880=)
c.71073T>C (p.Ile23691=)
c.68415T>C (p.Ile22805=)
c.68334T>C (p.Ile22778=)
c.50097T>C (p.Ile16699=)
c.39951T>C (p.Ile13317=)
2g.178568930A>TCA430253838TTN,TTN-AS1c.69498T>A (p.Ile23166=)
c.50583T>A (p.Ile16861=)
c.50382T>A (p.Ile16794=)
c.50007T>A (p.Ile16669=)
c.77202T>A (p.Ile25734=)
c.72279T>A (p.Ile24093=)
n.447-2370A>T
n.2044-13642A>T
c.76299T>A (p.Ile25433=)
c.50193T>A (p.Ile16731=)
c.50052T>A (p.Ile16684=)
c.76095T>A (p.Ile25365=)
c.71493T>A (p.Ile23831=)
c.71490T>A (p.Ile23830=)
c.68532T>A (p.Ile22844=)
c.50148T>A (p.Ile16716=)
c.71643T>A (p.Ile23881=)
c.71640T>A (p.Ile23880=)
c.71073T>A (p.Ile23691=)
c.68415T>A (p.Ile22805=)
c.68334T>A (p.Ile22778=)
c.50097T>A (p.Ile16699=)
c.39951T>A (p.Ile13317=)
2g.178568931A>CCA349611931TTN,TTN-AS1c.69497T>G (p.Ile23166Ser)
c.50582T>G (p.Ile16861Ser)
c.50381T>G (p.Ile16794Ser)
c.50006T>G (p.Ile16669Ser)
c.77201T>G (p.Ile25734Ser)
c.72278T>G (p.Ile24093Ser)
n.447-2369A>C
n.2044-13641A>C
c.76298T>G (p.Ile25433Ser)
c.50192T>G (p.Ile16731Ser)
c.50051T>G (p.Ile16684Ser)
c.76094T>G (p.Ile25365Ser)
c.71492T>G (p.Ile23831Ser)
c.71489T>G (p.Ile23830Ser)
c.68531T>G (p.Ile22844Ser)
c.50147T>G (p.Ile16716Ser)
c.71642T>G (p.Ile23881Ser)
c.71639T>G (p.Ile23880Ser)
c.71072T>G (p.Ile23691Ser)
c.68414T>G (p.Ile22805Ser)
c.68333T>G (p.Ile22778Ser)
c.50096T>G (p.Ile16699Ser)
c.39950T>G (p.Ile13317Ser)
2g.178568931A>GCA349611933TTN,TTN-AS1c.69497T>C (p.Ile23166Thr)
c.50582T>C (p.Ile16861Thr)
c.50381T>C (p.Ile16794Thr)
c.50006T>C (p.Ile16669Thr)
c.77201T>C (p.Ile25734Thr)
c.72278T>C (p.Ile24093Thr)
n.447-2369A>G
n.2044-13641A>G
c.76298T>C (p.Ile25433Thr)
c.50192T>C (p.Ile16731Thr)
c.50051T>C (p.Ile16684Thr)
c.76094T>C (p.Ile25365Thr)
c.71492T>C (p.Ile23831Thr)
c.71489T>C (p.Ile23830Thr)
c.68531T>C (p.Ile22844Thr)
c.50147T>C (p.Ile16716Thr)
c.71642T>C (p.Ile23881Thr)
c.71639T>C (p.Ile23880Thr)
c.71072T>C (p.Ile23691Thr)
c.68414T>C (p.Ile22805Thr)
c.68333T>C (p.Ile22778Thr)
c.50096T>C (p.Ile16699Thr)
c.39950T>C (p.Ile13317Thr)
2g.178568931A>TCA349611936TTN,TTN-AS1c.69497T>A (p.Ile23166Asn)
c.50582T>A (p.Ile16861Asn)
c.50381T>A (p.Ile16794Asn)
c.50006T>A (p.Ile16669Asn)
c.77201T>A (p.Ile25734Asn)
c.72278T>A (p.Ile24093Asn)
n.447-2369A>T
n.2044-13641A>T
c.76298T>A (p.Ile25433Asn)
c.50192T>A (p.Ile16731Asn)
c.50051T>A (p.Ile16684Asn)
c.76094T>A (p.Ile25365Asn)
c.71492T>A (p.Ile23831Asn)
c.71489T>A (p.Ile23830Asn)
c.68531T>A (p.Ile22844Asn)
c.50147T>A (p.Ile16716Asn)
c.71642T>A (p.Ile23881Asn)
c.71639T>A (p.Ile23880Asn)
c.71072T>A (p.Ile23691Asn)
c.68414T>A (p.Ile22805Asn)
c.68333T>A (p.Ile22778Asn)
c.50096T>A (p.Ile16699Asn)
c.39950T>A (p.Ile13317Asn)
2g.178568932T>ACA349611939TTN,TTN-AS1c.69496A>T (p.Ile23166Phe)
c.50581A>T (p.Ile16861Phe)
c.50380A>T (p.Ile16794Phe)
c.50005A>T (p.Ile16669Phe)
c.77200A>T (p.Ile25734Phe)
c.72277A>T (p.Ile24093Phe)
n.447-2368T>A
n.2044-13640T>A
c.76297A>T (p.Ile25433Phe)
c.50191A>T (p.Ile16731Phe)
c.50050A>T (p.Ile16684Phe)
c.76093A>T (p.Ile25365Phe)
c.71491A>T (p.Ile23831Phe)
c.71488A>T (p.Ile23830Phe)
c.68530A>T (p.Ile22844Phe)
c.50146A>T (p.Ile16716Phe)
c.71641A>T (p.Ile23881Phe)
c.71638A>T (p.Ile23880Phe)
c.71071A>T (p.Ile23691Phe)
c.68413A>T (p.Ile22805Phe)
c.68332A>T (p.Ile22778Phe)
c.50095A>T (p.Ile16699Phe)
c.39949A>T (p.Ile13317Phe)
2g.178568932T>CCA349611941TTN,TTN-AS1c.69496A>G (p.Ile23166Val)
c.50581A>G (p.Ile16861Val)
c.50380A>G (p.Ile16794Val)
c.50005A>G (p.Ile16669Val)
c.77200A>G (p.Ile25734Val)
c.72277A>G (p.Ile24093Val)
n.447-2368T>C
n.2044-13640T>C
c.76297A>G (p.Ile25433Val)
c.50191A>G (p.Ile16731Val)
c.50050A>G (p.Ile16684Val)
c.76093A>G (p.Ile25365Val)
c.71491A>G (p.Ile23831Val)
c.71488A>G (p.Ile23830Val)
c.68530A>G (p.Ile22844Val)
c.50146A>G (p.Ile16716Val)
c.71641A>G (p.Ile23881Val)
c.71638A>G (p.Ile23880Val)
c.71071A>G (p.Ile23691Val)
c.68413A>G (p.Ile22805Val)
c.68332A>G (p.Ile22778Val)
c.50095A>G (p.Ile16699Val)
c.39949A>G (p.Ile13317Val)
 gnomAD v4
2g.178568932T>GCA349611943TTN,TTN-AS1c.69496A>C (p.Ile23166Leu)
c.50581A>C (p.Ile16861Leu)
c.50380A>C (p.Ile16794Leu)
c.50005A>C (p.Ile16669Leu)
c.77200A>C (p.Ile25734Leu)
c.72277A>C (p.Ile24093Leu)
n.447-2368T>G
n.2044-13640T>G
c.76297A>C (p.Ile25433Leu)
c.50191A>C (p.Ile16731Leu)
c.50050A>C (p.Ile16684Leu)
c.76093A>C (p.Ile25365Leu)
c.71491A>C (p.Ile23831Leu)
c.71488A>C (p.Ile23830Leu)
c.68530A>C (p.Ile22844Leu)
c.50146A>C (p.Ile16716Leu)
c.71641A>C (p.Ile23881Leu)
c.71638A>C (p.Ile23880Leu)
c.71071A>C (p.Ile23691Leu)
c.68413A>C (p.Ile22805Leu)
c.68332A>C (p.Ile22778Leu)
c.50095A>C (p.Ile16699Leu)
c.39949A>C (p.Ile13317Leu)
2g.178568933A>CCA349611949TTN,TTN-AS1c.69495T>G (p.Tyr23165Ter)
c.50580T>G (p.Tyr16860Ter)
c.50379T>G (p.Tyr16793Ter)
c.50004T>G (p.Tyr16668Ter)
c.77199T>G (p.Tyr25733Ter)
c.72276T>G (p.Tyr24092Ter)
n.447-2367A>C
n.2044-13639A>C
c.76296T>G (p.Tyr25432Ter)
c.50190T>G (p.Tyr16730Ter)
c.50049T>G (p.Tyr16683Ter)
c.76092T>G (p.Tyr25364Ter)
c.71490T>G (p.Tyr23830Ter)
c.71487T>G (p.Tyr23829Ter)
c.68529T>G (p.Tyr22843Ter)
c.50145T>G (p.Tyr16715Ter)
c.71640T>G (p.Tyr23880Ter)
c.71637T>G (p.Tyr23879Ter)
c.71070T>G (p.Tyr23690Ter)
c.68412T>G (p.Tyr22804Ter)
c.68331T>G (p.Tyr22777Ter)
c.50094T>G (p.Tyr16698Ter)
c.39948T>G (p.Tyr13316Ter)
2g.178568933A>GCA430253846TTN,TTN-AS1c.69495T>C (p.Tyr23165=)
c.50580T>C (p.Tyr16860=)
c.50379T>C (p.Tyr16793=)
c.50004T>C (p.Tyr16668=)
c.77199T>C (p.Tyr25733=)
c.72276T>C (p.Tyr24092=)
n.447-2367A>G
n.2044-13639A>G
c.76296T>C (p.Tyr25432=)
c.50190T>C (p.Tyr16730=)
c.50049T>C (p.Tyr16683=)
c.76092T>C (p.Tyr25364=)
c.71490T>C (p.Tyr23830=)
c.71487T>C (p.Tyr23829=)
c.68529T>C (p.Tyr22843=)
c.50145T>C (p.Tyr16715=)
c.71640T>C (p.Tyr23880=)
c.71637T>C (p.Tyr23879=)
c.71070T>C (p.Tyr23690=)
c.68412T>C (p.Tyr22804=)
c.68331T>C (p.Tyr22777=)
c.50094T>C (p.Tyr16698=)
c.39948T>C (p.Tyr13316=)
2g.178568933A>TCA349611951TTN,TTN-AS1c.69495T>A (p.Tyr23165Ter)
c.50580T>A (p.Tyr16860Ter)
c.50379T>A (p.Tyr16793Ter)
c.50004T>A (p.Tyr16668Ter)
c.77199T>A (p.Tyr25733Ter)
c.72276T>A (p.Tyr24092Ter)
n.447-2367A>T
n.2044-13639A>T
c.76296T>A (p.Tyr25432Ter)
c.50190T>A (p.Tyr16730Ter)
c.50049T>A (p.Tyr16683Ter)
c.76092T>A (p.Tyr25364Ter)
c.71490T>A (p.Tyr23830Ter)
c.71487T>A (p.Tyr23829Ter)
c.68529T>A (p.Tyr22843Ter)
c.50145T>A (p.Tyr16715Ter)
c.71640T>A (p.Tyr23880Ter)
c.71637T>A (p.Tyr23879Ter)
c.71070T>A (p.Tyr23690Ter)
c.68412T>A (p.Tyr22804Ter)
c.68331T>A (p.Tyr22777Ter)
c.50094T>A (p.Tyr16698Ter)
c.39948T>A (p.Tyr13316Ter)
2g.178568934T>ACA349611954TTN,TTN-AS1c.69494A>T (p.Tyr23165Phe)
c.50579A>T (p.Tyr16860Phe)
c.50378A>T (p.Tyr16793Phe)
c.50003A>T (p.Tyr16668Phe)
c.77198A>T (p.Tyr25733Phe)
c.72275A>T (p.Tyr24092Phe)
n.447-2366T>A
n.2044-13638T>A
c.76295A>T (p.Tyr25432Phe)
c.50189A>T (p.Tyr16730Phe)
c.50048A>T (p.Tyr16683Phe)
c.76091A>T (p.Tyr25364Phe)
c.71489A>T (p.Tyr23830Phe)
c.71486A>T (p.Tyr23829Phe)
c.68528A>T (p.Tyr22843Phe)
c.50144A>T (p.Tyr16715Phe)
c.71639A>T (p.Tyr23880Phe)
c.71636A>T (p.Tyr23879Phe)
c.71069A>T (p.Tyr23690Phe)
c.68411A>T (p.Tyr22804Phe)
c.68330A>T (p.Tyr22777Phe)
c.50093A>T (p.Tyr16698Phe)
c.39947A>T (p.Tyr13316Phe)
2g.178568934T>CCA349611956TTN,TTN-AS1c.69494A>G (p.Tyr23165Cys)
c.50579A>G (p.Tyr16860Cys)
c.50378A>G (p.Tyr16793Cys)
c.50003A>G (p.Tyr16668Cys)
c.77198A>G (p.Tyr25733Cys)
c.72275A>G (p.Tyr24092Cys)
n.447-2366T>C
n.2044-13638T>C
c.76295A>G (p.Tyr25432Cys)
c.50189A>G (p.Tyr16730Cys)
c.50048A>G (p.Tyr16683Cys)
c.76091A>G (p.Tyr25364Cys)
c.71489A>G (p.Tyr23830Cys)
c.71486A>G (p.Tyr23829Cys)
c.68528A>G (p.Tyr22843Cys)
c.50144A>G (p.Tyr16715Cys)
c.71639A>G (p.Tyr23880Cys)
c.71636A>G (p.Tyr23879Cys)
c.71069A>G (p.Tyr23690Cys)
c.68411A>G (p.Tyr22804Cys)
c.68330A>G (p.Tyr22777Cys)
c.50093A>G (p.Tyr16698Cys)
c.39947A>G (p.Tyr13316Cys)

Number of alleles fetched