Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178569001T>ACA349612354TTN,TTN-AS1c.69427A>T (p.Thr23143Ser)
c.50512A>T (p.Thr16838Ser)
c.50311A>T (p.Thr16771Ser)
c.49936A>T (p.Thr16646Ser)
c.77131A>T (p.Thr25711Ser)
c.72208A>T (p.Thr24070Ser)
n.447-2299T>A
n.2044-13571T>A
c.76228A>T (p.Thr25410Ser)
c.50122A>T (p.Thr16708Ser)
c.49981A>T (p.Thr16661Ser)
c.76024A>T (p.Thr25342Ser)
c.71422A>T (p.Thr23808Ser)
c.71419A>T (p.Thr23807Ser)
c.68461A>T (p.Thr22821Ser)
c.50077A>T (p.Thr16693Ser)
c.71572A>T (p.Thr23858Ser)
c.71569A>T (p.Thr23857Ser)
c.71002A>T (p.Thr23668Ser)
c.68344A>T (p.Thr22782Ser)
c.68263A>T (p.Thr22755Ser)
c.50026A>T (p.Thr16676Ser)
c.39880A>T (p.Thr13294Ser)
2g.178569001T>CCA60993278TTN,TTN-AS1c.69427A>G (p.Thr23143Ala)
c.50512A>G (p.Thr16838Ala)
c.50311A>G (p.Thr16771Ala)
c.49936A>G (p.Thr16646Ala)
c.77131A>G (p.Thr25711Ala)
c.72208A>G (p.Thr24070Ala)
n.447-2299T>C
n.2044-13571T>C
c.76228A>G (p.Thr25410Ala)
c.50122A>G (p.Thr16708Ala)
c.49981A>G (p.Thr16661Ala)
c.76024A>G (p.Thr25342Ala)
c.71422A>G (p.Thr23808Ala)
c.71419A>G (p.Thr23807Ala)
c.68461A>G (p.Thr22821Ala)
c.50077A>G (p.Thr16693Ala)
c.71572A>G (p.Thr23858Ala)
c.71569A>G (p.Thr23857Ala)
c.71002A>G (p.Thr23668Ala)
c.68344A>G (p.Thr22782Ala)
c.68263A>G (p.Thr22755Ala)
c.50026A>G (p.Thr16676Ala)
c.39880A>G (p.Thr13294Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178569001T>GCA349612356TTN,TTN-AS1c.69427A>C (p.Thr23143Pro)
c.50512A>C (p.Thr16838Pro)
c.50311A>C (p.Thr16771Pro)
c.49936A>C (p.Thr16646Pro)
c.77131A>C (p.Thr25711Pro)
c.72208A>C (p.Thr24070Pro)
n.447-2299T>G
n.2044-13571T>G
c.76228A>C (p.Thr25410Pro)
c.50122A>C (p.Thr16708Pro)
c.49981A>C (p.Thr16661Pro)
c.76024A>C (p.Thr25342Pro)
c.71422A>C (p.Thr23808Pro)
c.71419A>C (p.Thr23807Pro)
c.68461A>C (p.Thr22821Pro)
c.50077A>C (p.Thr16693Pro)
c.71572A>C (p.Thr23858Pro)
c.71569A>C (p.Thr23857Pro)
c.71002A>C (p.Thr23668Pro)
c.68344A>C (p.Thr22782Pro)
c.68263A>C (p.Thr22755Pro)
c.50026A>C (p.Thr16676Pro)
c.39880A>C (p.Thr13294Pro)
2g.178569001T=CA1310530870TTN,TTN-AS1c.69427A= (p.Thr23143=)
c.50512A= (p.Thr16838=)
c.50311A= (p.Thr16771=)
c.49936A= (p.Thr16646=)
c.77131A= (p.Thr25711=)
c.72208A= (p.Thr24070=)
n.447-2299T=
n.2044-13571T=
c.76228A= (p.Thr25410=)
c.50122A= (p.Thr16708=)
c.49981A= (p.Thr16661=)
c.76024A= (p.Thr25342=)
c.71422A= (p.Thr23808=)
c.71419A= (p.Thr23807=)
c.68461A= (p.Thr22821=)
c.50077A= (p.Thr16693=)
c.71572A= (p.Thr23858=)
c.71569A= (p.Thr23857=)
c.71002A= (p.Thr23668=)
c.68344A= (p.Thr22782=)
c.68263A= (p.Thr22755=)
c.50026A= (p.Thr16676=)
c.39880A= (p.Thr13294=)
2g.178569002G>ACA430254018TTN,TTN-AS1c.69426C>T (p.Val23142=)
c.50511C>T (p.Val16837=)
c.50310C>T (p.Val16770=)
c.49935C>T (p.Val16645=)
c.77130C>T (p.Val25710=)
c.72207C>T (p.Val24069=)
n.447-2298G>A
n.2044-13570G>A
c.76227C>T (p.Val25409=)
c.50121C>T (p.Val16707=)
c.49980C>T (p.Val16660=)
c.76023C>T (p.Val25341=)
c.71421C>T (p.Val23807=)
c.71418C>T (p.Val23806=)
c.68460C>T (p.Val22820=)
c.50076C>T (p.Val16692=)
c.71571C>T (p.Val23857=)
c.71568C>T (p.Val23856=)
c.71001C>T (p.Val23667=)
c.68343C>T (p.Val22781=)
c.68262C>T (p.Val22754=)
c.50025C>T (p.Val16675=)
c.39879C>T (p.Val13293=)
2g.178569002G>CCA430254019TTN,TTN-AS1c.69426C>G (p.Val23142=)
c.50511C>G (p.Val16837=)
c.50310C>G (p.Val16770=)
c.49935C>G (p.Val16645=)
c.77130C>G (p.Val25710=)
c.72207C>G (p.Val24069=)
n.447-2298G>C
n.2044-13570G>C
c.76227C>G (p.Val25409=)
c.50121C>G (p.Val16707=)
c.49980C>G (p.Val16660=)
c.76023C>G (p.Val25341=)
c.71421C>G (p.Val23807=)
c.71418C>G (p.Val23806=)
c.68460C>G (p.Val22820=)
c.50076C>G (p.Val16692=)
c.71571C>G (p.Val23857=)
c.71568C>G (p.Val23856=)
c.71001C>G (p.Val23667=)
c.68343C>G (p.Val22781=)
c.68262C>G (p.Val22754=)
c.50025C>G (p.Val16675=)
c.39879C>G (p.Val13293=)
2g.178569002G>TCA430254020TTN,TTN-AS1c.69426C>A (p.Val23142=)
c.50511C>A (p.Val16837=)
c.50310C>A (p.Val16770=)
c.49935C>A (p.Val16645=)
c.77130C>A (p.Val25710=)
c.72207C>A (p.Val24069=)
n.447-2298G>T
n.2044-13570G>T
c.76227C>A (p.Val25409=)
c.50121C>A (p.Val16707=)
c.49980C>A (p.Val16660=)
c.76023C>A (p.Val25341=)
c.71421C>A (p.Val23807=)
c.71418C>A (p.Val23806=)
c.68460C>A (p.Val22820=)
c.50076C>A (p.Val16692=)
c.71571C>A (p.Val23857=)
c.71568C>A (p.Val23856=)
c.71001C>A (p.Val23667=)
c.68343C>A (p.Val22781=)
c.68262C>A (p.Val22754=)
c.50025C>A (p.Val16675=)
c.39879C>A (p.Val13293=)
2g.178569003delCA645515421TTN,TTN-AS1c.69425del (p.Val23142AlafsTer8)
c.50510del (p.Val16837AlafsTer8)
c.50309del (p.Val16770AlafsTer8)
c.49934del (p.Val16645AlafsTer8)
c.77129del (p.Val25710AlafsTer8)
c.72206del (p.Val24069AlafsTer8)
n.447-2297del
n.2044-13569del
c.76226del (p.Val25409AlafsTer8)
c.50120del (p.Val16707AlafsTer8)
c.49979del (p.Val16660AlafsTer8)
c.76022del (p.Val25341AlafsTer8)
c.71420del (p.Val23807AlafsTer8)
c.71417del (p.Val23806AlafsTer8)
c.68459del (p.Val22820AlafsTer8)
c.50075del (p.Val16692AlafsTer8)
c.71570del (p.Val23857AlafsTer8)
c.71567del (p.Val23856AlafsTer8)
c.71000del (p.Val23667AlafsTer8)
c.68342del (p.Val22781AlafsTer8)
c.68261del (p.Val22754AlafsTer8)
c.50024del (p.Val16675AlafsTer8)
c.39878del (p.Val13293AlafsTer8)
 COSMIC COSMIC COSMIC COSMIC
2g.178569003A>CCA349612358TTN,TTN-AS1c.69425T>G (p.Val23142Gly)
c.50510T>G (p.Val16837Gly)
c.50309T>G (p.Val16770Gly)
c.49934T>G (p.Val16645Gly)
c.77129T>G (p.Val25710Gly)
c.72206T>G (p.Val24069Gly)
n.447-2297A>C
n.2044-13569A>C
c.76226T>G (p.Val25409Gly)
c.50120T>G (p.Val16707Gly)
c.49979T>G (p.Val16660Gly)
c.76022T>G (p.Val25341Gly)
c.71420T>G (p.Val23807Gly)
c.71417T>G (p.Val23806Gly)
c.68459T>G (p.Val22820Gly)
c.50075T>G (p.Val16692Gly)
c.71570T>G (p.Val23857Gly)
c.71567T>G (p.Val23856Gly)
c.71000T>G (p.Val23667Gly)
c.68342T>G (p.Val22781Gly)
c.68261T>G (p.Val22754Gly)
c.50024T>G (p.Val16675Gly)
c.39878T>G (p.Val13293Gly)
2g.178569003A>GCA349612360TTN,TTN-AS1c.69425T>C (p.Val23142Ala)
c.50510T>C (p.Val16837Ala)
c.50309T>C (p.Val16770Ala)
c.49934T>C (p.Val16645Ala)
c.77129T>C (p.Val25710Ala)
c.72206T>C (p.Val24069Ala)
n.447-2297A>G
n.2044-13569A>G
c.76226T>C (p.Val25409Ala)
c.50120T>C (p.Val16707Ala)
c.49979T>C (p.Val16660Ala)
c.76022T>C (p.Val25341Ala)
c.71420T>C (p.Val23807Ala)
c.71417T>C (p.Val23806Ala)
c.68459T>C (p.Val22820Ala)
c.50075T>C (p.Val16692Ala)
c.71570T>C (p.Val23857Ala)
c.71567T>C (p.Val23856Ala)
c.71000T>C (p.Val23667Ala)
c.68342T>C (p.Val22781Ala)
c.68261T>C (p.Val22754Ala)
c.50024T>C (p.Val16675Ala)
c.39878T>C (p.Val13293Ala)
2g.178569003A>TCA349612361TTN,TTN-AS1c.69425T>A (p.Val23142Asp)
c.50510T>A (p.Val16837Asp)
c.50309T>A (p.Val16770Asp)
c.49934T>A (p.Val16645Asp)
c.77129T>A (p.Val25710Asp)
c.72206T>A (p.Val24069Asp)
n.447-2297A>T
n.2044-13569A>T
c.76226T>A (p.Val25409Asp)
c.50120T>A (p.Val16707Asp)
c.49979T>A (p.Val16660Asp)
c.76022T>A (p.Val25341Asp)
c.71420T>A (p.Val23807Asp)
c.71417T>A (p.Val23806Asp)
c.68459T>A (p.Val22820Asp)
c.50075T>A (p.Val16692Asp)
c.71570T>A (p.Val23857Asp)
c.71567T>A (p.Val23856Asp)
c.71000T>A (p.Val23667Asp)
c.68342T>A (p.Val22781Asp)
c.68261T>A (p.Val22754Asp)
c.50024T>A (p.Val16675Asp)
c.39878T>A (p.Val13293Asp)
2g.178569004C>ACA349612363TTN,TTN-AS1c.69424G>T (p.Val23142Phe)
c.50509G>T (p.Val16837Phe)
c.50308G>T (p.Val16770Phe)
c.49933G>T (p.Val16645Phe)
c.77128G>T (p.Val25710Phe)
c.72205G>T (p.Val24069Phe)
n.447-2296C>A
n.2044-13568C>A
c.76225G>T (p.Val25409Phe)
c.50119G>T (p.Val16707Phe)
c.49978G>T (p.Val16660Phe)
c.76021G>T (p.Val25341Phe)
c.71419G>T (p.Val23807Phe)
c.71416G>T (p.Val23806Phe)
c.68458G>T (p.Val22820Phe)
c.50074G>T (p.Val16692Phe)
c.71569G>T (p.Val23857Phe)
c.71566G>T (p.Val23856Phe)
c.70999G>T (p.Val23667Phe)
c.68341G>T (p.Val22781Phe)
c.68260G>T (p.Val22754Phe)
c.50023G>T (p.Val16675Phe)
c.39877G>T (p.Val13293Phe)
2g.178569004C=CA1310530872TTN,TTN-AS1c.69424G= (p.Val23142=)
c.50509G= (p.Val16837=)
c.50308G= (p.Val16770=)
c.49933G= (p.Val16645=)
c.77128G= (p.Val25710=)
c.72205G= (p.Val24069=)
n.447-2296C=
n.2044-13568C=
c.76225G= (p.Val25409=)
c.50119G= (p.Val16707=)
c.49978G= (p.Val16660=)
c.76021G= (p.Val25341=)
c.71419G= (p.Val23807=)
c.71416G= (p.Val23806=)
c.68458G= (p.Val22820=)
c.50074G= (p.Val16692=)
c.71569G= (p.Val23857=)
c.71566G= (p.Val23856=)
c.70999G= (p.Val23667=)
c.68341G= (p.Val22781=)
c.68260G= (p.Val22754=)
c.50023G= (p.Val16675=)
c.39877G= (p.Val13293=)
2g.178569004C>GCA349612365TTN,TTN-AS1c.69424G>C (p.Val23142Leu)
c.50509G>C (p.Val16837Leu)
c.50308G>C (p.Val16770Leu)
c.49933G>C (p.Val16645Leu)
c.77128G>C (p.Val25710Leu)
c.72205G>C (p.Val24069Leu)
n.447-2296C>G
n.2044-13568C>G
c.76225G>C (p.Val25409Leu)
c.50119G>C (p.Val16707Leu)
c.49978G>C (p.Val16660Leu)
c.76021G>C (p.Val25341Leu)
c.71419G>C (p.Val23807Leu)
c.71416G>C (p.Val23806Leu)
c.68458G>C (p.Val22820Leu)
c.50074G>C (p.Val16692Leu)
c.71569G>C (p.Val23857Leu)
c.71566G>C (p.Val23856Leu)
c.70999G>C (p.Val23667Leu)
c.68341G>C (p.Val22781Leu)
c.68260G>C (p.Val22754Leu)
c.50023G>C (p.Val16675Leu)
c.39877G>C (p.Val13293Leu)
2g.178569004C>TCA349612366TTN,TTN-AS1c.69424G>A (p.Val23142Ile)
c.50509G>A (p.Val16837Ile)
c.50308G>A (p.Val16770Ile)
c.49933G>A (p.Val16645Ile)
c.77128G>A (p.Val25710Ile)
c.72205G>A (p.Val24069Ile)
n.447-2296C>T
n.2044-13568C>T
c.76225G>A (p.Val25409Ile)
c.50119G>A (p.Val16707Ile)
c.49978G>A (p.Val16660Ile)
c.76021G>A (p.Val25341Ile)
c.71419G>A (p.Val23807Ile)
c.71416G>A (p.Val23806Ile)
c.68458G>A (p.Val22820Ile)
c.50074G>A (p.Val16692Ile)
c.71569G>A (p.Val23857Ile)
c.71566G>A (p.Val23856Ile)
c.70999G>A (p.Val23667Ile)
c.68341G>A (p.Val22781Ile)
c.68260G>A (p.Val22754Ile)
c.50023G>A (p.Val16675Ile)
c.39877G>A (p.Val13293Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178569005A>CCA349612369TTN,TTN-AS1c.69423T>G (p.Asp23141Glu)
c.50508T>G (p.Asp16836Glu)
c.50307T>G (p.Asp16769Glu)
c.49932T>G (p.Asp16644Glu)
c.77127T>G (p.Asp25709Glu)
c.72204T>G (p.Asp24068Glu)
n.447-2295A>C
n.2044-13567A>C
c.76224T>G (p.Asp25408Glu)
c.50118T>G (p.Asp16706Glu)
c.49977T>G (p.Asp16659Glu)
c.76020T>G (p.Asp25340Glu)
c.71418T>G (p.Asp23806Glu)
c.71415T>G (p.Asp23805Glu)
c.68457T>G (p.Asp22819Glu)
c.50073T>G (p.Asp16691Glu)
c.71568T>G (p.Asp23856Glu)
c.71565T>G (p.Asp23855Glu)
c.70998T>G (p.Asp23666Glu)
c.68340T>G (p.Asp22780Glu)
c.68259T>G (p.Asp22753Glu)
c.50022T>G (p.Asp16674Glu)
c.39876T>G (p.Asp13292Glu)
2g.178569005A>GCA430254028TTN,TTN-AS1c.69423T>C (p.Asp23141=)
c.50508T>C (p.Asp16836=)
c.50307T>C (p.Asp16769=)
c.49932T>C (p.Asp16644=)
c.77127T>C (p.Asp25709=)
c.72204T>C (p.Asp24068=)
n.447-2295A>G
n.2044-13567A>G
c.76224T>C (p.Asp25408=)
c.50118T>C (p.Asp16706=)
c.49977T>C (p.Asp16659=)
c.76020T>C (p.Asp25340=)
c.71418T>C (p.Asp23806=)
c.71415T>C (p.Asp23805=)
c.68457T>C (p.Asp22819=)
c.50073T>C (p.Asp16691=)
c.71568T>C (p.Asp23856=)
c.71565T>C (p.Asp23855=)
c.70998T>C (p.Asp23666=)
c.68340T>C (p.Asp22780=)
c.68259T>C (p.Asp22753=)
c.50022T>C (p.Asp16674=)
c.39876T>C (p.Asp13292=)
2g.178569005A>TCA349612371TTN,TTN-AS1c.69423T>A (p.Asp23141Glu)
c.50508T>A (p.Asp16836Glu)
c.50307T>A (p.Asp16769Glu)
c.49932T>A (p.Asp16644Glu)
c.77127T>A (p.Asp25709Glu)
c.72204T>A (p.Asp24068Glu)
n.447-2295A>T
n.2044-13567A>T
c.76224T>A (p.Asp25408Glu)
c.50118T>A (p.Asp16706Glu)
c.49977T>A (p.Asp16659Glu)
c.76020T>A (p.Asp25340Glu)
c.71418T>A (p.Asp23806Glu)
c.71415T>A (p.Asp23805Glu)
c.68457T>A (p.Asp22819Glu)
c.50073T>A (p.Asp16691Glu)
c.71568T>A (p.Asp23856Glu)
c.71565T>A (p.Asp23855Glu)
c.70998T>A (p.Asp23666Glu)
c.68340T>A (p.Asp22780Glu)
c.68259T>A (p.Asp22753Glu)
c.50022T>A (p.Asp16674Glu)
c.39876T>A (p.Asp13292Glu)
2g.178569006T>ACA349612380TTN,TTN-AS1c.69422A>T (p.Asp23141Val)
c.50507A>T (p.Asp16836Val)
c.50306A>T (p.Asp16769Val)
c.49931A>T (p.Asp16644Val)
c.77126A>T (p.Asp25709Val)
c.72203A>T (p.Asp24068Val)
n.447-2294T>A
n.2044-13566T>A
c.76223A>T (p.Asp25408Val)
c.50117A>T (p.Asp16706Val)
c.49976A>T (p.Asp16659Val)
c.76019A>T (p.Asp25340Val)
c.71417A>T (p.Asp23806Val)
c.71414A>T (p.Asp23805Val)
c.68456A>T (p.Asp22819Val)
c.50072A>T (p.Asp16691Val)
c.71567A>T (p.Asp23856Val)
c.71564A>T (p.Asp23855Val)
c.70997A>T (p.Asp23666Val)
c.68339A>T (p.Asp22780Val)
c.68258A>T (p.Asp22753Val)
c.50021A>T (p.Asp16674Val)
c.39875A>T (p.Asp13292Val)
 dbSNP gnomAD v3 gnomAD v4
2g.178569006T>CCA349612378TTN,TTN-AS1c.69422A>G (p.Asp23141Gly)
c.50507A>G (p.Asp16836Gly)
c.50306A>G (p.Asp16769Gly)
c.49931A>G (p.Asp16644Gly)
c.77126A>G (p.Asp25709Gly)
c.72203A>G (p.Asp24068Gly)
n.447-2294T>C
n.2044-13566T>C
c.76223A>G (p.Asp25408Gly)
c.50117A>G (p.Asp16706Gly)
c.49976A>G (p.Asp16659Gly)
c.76019A>G (p.Asp25340Gly)
c.71417A>G (p.Asp23806Gly)
c.71414A>G (p.Asp23805Gly)
c.68456A>G (p.Asp22819Gly)
c.50072A>G (p.Asp16691Gly)
c.71567A>G (p.Asp23856Gly)
c.71564A>G (p.Asp23855Gly)
c.70997A>G (p.Asp23666Gly)
c.68339A>G (p.Asp22780Gly)
c.68258A>G (p.Asp22753Gly)
c.50021A>G (p.Asp16674Gly)
c.39875A>G (p.Asp13292Gly)
2g.178569006T>GCA349612376TTN,TTN-AS1c.69422A>C (p.Asp23141Ala)
c.50507A>C (p.Asp16836Ala)
c.50306A>C (p.Asp16769Ala)
c.49931A>C (p.Asp16644Ala)
c.77126A>C (p.Asp25709Ala)
c.72203A>C (p.Asp24068Ala)
n.447-2294T>G
n.2044-13566T>G
c.76223A>C (p.Asp25408Ala)
c.50117A>C (p.Asp16706Ala)
c.49976A>C (p.Asp16659Ala)
c.76019A>C (p.Asp25340Ala)
c.71417A>C (p.Asp23806Ala)
c.71414A>C (p.Asp23805Ala)
c.68456A>C (p.Asp22819Ala)
c.50072A>C (p.Asp16691Ala)
c.71567A>C (p.Asp23856Ala)
c.71564A>C (p.Asp23855Ala)
c.70997A>C (p.Asp23666Ala)
c.68339A>C (p.Asp22780Ala)
c.68258A>C (p.Asp22753Ala)
c.50021A>C (p.Asp16674Ala)
c.39875A>C (p.Asp13292Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.178569006T=CA1310530873TTN,TTN-AS1c.69422A= (p.Asp23141=)
c.50507A= (p.Asp16836=)
c.50306A= (p.Asp16769=)
c.49931A= (p.Asp16644=)
c.77126A= (p.Asp25709=)
c.72203A= (p.Asp24068=)
n.447-2294T=
n.2044-13566T=
c.76223A= (p.Asp25408=)
c.50117A= (p.Asp16706=)
c.49976A= (p.Asp16659=)
c.76019A= (p.Asp25340=)
c.71417A= (p.Asp23806=)
c.71414A= (p.Asp23805=)
c.68456A= (p.Asp22819=)
c.50072A= (p.Asp16691=)
c.71567A= (p.Asp23856=)
c.71564A= (p.Asp23855=)
c.70997A= (p.Asp23666=)
c.68339A= (p.Asp22780=)
c.68258A= (p.Asp22753=)
c.50021A= (p.Asp16674=)
c.39875A= (p.Asp13292=)
2g.178569007C>ACA1989817TTN,TTN-AS1c.69421G>T (p.Asp23141Tyr)
c.50506G>T (p.Asp16836Tyr)
c.50305G>T (p.Asp16769Tyr)
c.49930G>T (p.Asp16644Tyr)
c.77125G>T (p.Asp25709Tyr)
c.72202G>T (p.Asp24068Tyr)
n.447-2293C>A
n.2044-13565C>A
c.76222G>T (p.Asp25408Tyr)
c.50116G>T (p.Asp16706Tyr)
c.49975G>T (p.Asp16659Tyr)
c.76018G>T (p.Asp25340Tyr)
c.71416G>T (p.Asp23806Tyr)
c.71413G>T (p.Asp23805Tyr)
c.68455G>T (p.Asp22819Tyr)
c.50071G>T (p.Asp16691Tyr)
c.71566G>T (p.Asp23856Tyr)
c.71563G>T (p.Asp23855Tyr)
c.70996G>T (p.Asp23666Tyr)
c.68338G>T (p.Asp22780Tyr)
c.68257G>T (p.Asp22753Tyr)
c.50020G>T (p.Asp16674Tyr)
c.39874G>T (p.Asp13292Tyr)
 dbSNP ExAC gnomAD v2 COSMIC COSMIC COSMIC COSMIC
2g.178569007C=CA1310530876TTN,TTN-AS1c.69421G= (p.Asp23141=)
c.50506G= (p.Asp16836=)
c.50305G= (p.Asp16769=)
c.49930G= (p.Asp16644=)
c.77125G= (p.Asp25709=)
c.72202G= (p.Asp24068=)
n.447-2293C=
n.2044-13565C=
c.76222G= (p.Asp25408=)
c.50116G= (p.Asp16706=)
c.49975G= (p.Asp16659=)
c.76018G= (p.Asp25340=)
c.71416G= (p.Asp23806=)
c.71413G= (p.Asp23805=)
c.68455G= (p.Asp22819=)
c.50071G= (p.Asp16691=)
c.71566G= (p.Asp23856=)
c.71563G= (p.Asp23855=)
c.70996G= (p.Asp23666=)
c.68338G= (p.Asp22780=)
c.68257G= (p.Asp22753=)
c.50020G= (p.Asp16674=)
c.39874G= (p.Asp13292=)
2g.178569007C>GCA1989816TTN,TTN-AS1c.69421G>C (p.Asp23141His)
c.50506G>C (p.Asp16836His)
c.50305G>C (p.Asp16769His)
c.49930G>C (p.Asp16644His)
c.77125G>C (p.Asp25709His)
c.72202G>C (p.Asp24068His)
n.447-2293C>G
n.2044-13565C>G
c.76222G>C (p.Asp25408His)
c.50116G>C (p.Asp16706His)
c.49975G>C (p.Asp16659His)
c.76018G>C (p.Asp25340His)
c.71416G>C (p.Asp23806His)
c.71413G>C (p.Asp23805His)
c.68455G>C (p.Asp22819His)
c.50071G>C (p.Asp16691His)
c.71566G>C (p.Asp23856His)
c.71563G>C (p.Asp23855His)
c.70996G>C (p.Asp23666His)
c.68338G>C (p.Asp22780His)
c.68257G>C (p.Asp22753His)
c.50020G>C (p.Asp16674His)
c.39874G>C (p.Asp13292His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178569007C>TCA349612385TTN,TTN-AS1c.69421G>A (p.Asp23141Asn)
c.50506G>A (p.Asp16836Asn)
c.50305G>A (p.Asp16769Asn)
c.49930G>A (p.Asp16644Asn)
c.77125G>A (p.Asp25709Asn)
c.72202G>A (p.Asp24068Asn)
n.447-2293C>T
n.2044-13565C>T
c.76222G>A (p.Asp25408Asn)
c.50116G>A (p.Asp16706Asn)
c.49975G>A (p.Asp16659Asn)
c.76018G>A (p.Asp25340Asn)
c.71416G>A (p.Asp23806Asn)
c.71413G>A (p.Asp23805Asn)
c.68455G>A (p.Asp22819Asn)
c.50071G>A (p.Asp16691Asn)
c.71566G>A (p.Asp23856Asn)
c.71563G>A (p.Asp23855Asn)
c.70996G>A (p.Asp23666Asn)
c.68338G>A (p.Asp22780Asn)
c.68257G>A (p.Asp22753Asn)
c.50020G>A (p.Asp16674Asn)
c.39874G>A (p.Asp13292Asn)
 COSMIC COSMIC COSMIC COSMIC
2g.178569008A>CCA349612388TTN,TTN-AS1c.69420T>G (p.Asp23140Glu)
c.50505T>G (p.Asp16835Glu)
c.50304T>G (p.Asp16768Glu)
c.49929T>G (p.Asp16643Glu)
c.77124T>G (p.Asp25708Glu)
c.72201T>G (p.Asp24067Glu)
n.447-2292A>C
n.2044-13564A>C
c.76221T>G (p.Asp25407Glu)
c.50115T>G (p.Asp16705Glu)
c.49974T>G (p.Asp16658Glu)
c.76017T>G (p.Asp25339Glu)
c.71415T>G (p.Asp23805Glu)
c.71412T>G (p.Asp23804Glu)
c.68454T>G (p.Asp22818Glu)
c.50070T>G (p.Asp16690Glu)
c.71565T>G (p.Asp23855Glu)
c.71562T>G (p.Asp23854Glu)
c.70995T>G (p.Asp23665Glu)
c.68337T>G (p.Asp22779Glu)
c.68256T>G (p.Asp22752Glu)
c.50019T>G (p.Asp16673Glu)
c.39873T>G (p.Asp13291Glu)
2g.178569008A>GCA430254035TTN,TTN-AS1c.69420T>C (p.Asp23140=)
c.50505T>C (p.Asp16835=)
c.50304T>C (p.Asp16768=)
c.49929T>C (p.Asp16643=)
c.77124T>C (p.Asp25708=)
c.72201T>C (p.Asp24067=)
n.447-2292A>G
n.2044-13564A>G
c.76221T>C (p.Asp25407=)
c.50115T>C (p.Asp16705=)
c.49974T>C (p.Asp16658=)
c.76017T>C (p.Asp25339=)
c.71415T>C (p.Asp23805=)
c.71412T>C (p.Asp23804=)
c.68454T>C (p.Asp22818=)
c.50070T>C (p.Asp16690=)
c.71565T>C (p.Asp23855=)
c.71562T>C (p.Asp23854=)
c.70995T>C (p.Asp23665=)
c.68337T>C (p.Asp22779=)
c.68256T>C (p.Asp22752=)
c.50019T>C (p.Asp16673=)
c.39873T>C (p.Asp13291=)
 gnomAD v4
2g.178569008A>TCA349612390TTN,TTN-AS1c.69420T>A (p.Asp23140Glu)
c.50505T>A (p.Asp16835Glu)
c.50304T>A (p.Asp16768Glu)
c.49929T>A (p.Asp16643Glu)
c.77124T>A (p.Asp25708Glu)
c.72201T>A (p.Asp24067Glu)
n.447-2292A>T
n.2044-13564A>T
c.76221T>A (p.Asp25407Glu)
c.50115T>A (p.Asp16705Glu)
c.49974T>A (p.Asp16658Glu)
c.76017T>A (p.Asp25339Glu)
c.71415T>A (p.Asp23805Glu)
c.71412T>A (p.Asp23804Glu)
c.68454T>A (p.Asp22818Glu)
c.50070T>A (p.Asp16690Glu)
c.71565T>A (p.Asp23855Glu)
c.71562T>A (p.Asp23854Glu)
c.70995T>A (p.Asp23665Glu)
c.68337T>A (p.Asp22779Glu)
c.68256T>A (p.Asp22752Glu)
c.50019T>A (p.Asp16673Glu)
c.39873T>A (p.Asp13291Glu)
2g.178569009T>ACA349612394TTN,TTN-AS1c.69419A>T (p.Asp23140Val)
c.50504A>T (p.Asp16835Val)
c.50303A>T (p.Asp16768Val)
c.49928A>T (p.Asp16643Val)
c.77123A>T (p.Asp25708Val)
c.72200A>T (p.Asp24067Val)
n.447-2291T>A
n.2044-13563T>A
c.76220A>T (p.Asp25407Val)
c.50114A>T (p.Asp16705Val)
c.49973A>T (p.Asp16658Val)
c.76016A>T (p.Asp25339Val)
c.71414A>T (p.Asp23805Val)
c.71411A>T (p.Asp23804Val)
c.68453A>T (p.Asp22818Val)
c.50069A>T (p.Asp16690Val)
c.71564A>T (p.Asp23855Val)
c.71561A>T (p.Asp23854Val)
c.70994A>T (p.Asp23665Val)
c.68336A>T (p.Asp22779Val)
c.68255A>T (p.Asp22752Val)
c.50018A>T (p.Asp16673Val)
c.39872A>T (p.Asp13291Val)
 dbSNP
2g.178569009T>CCA349612396TTN,TTN-AS1c.69419A>G (p.Asp23140Gly)
c.50504A>G (p.Asp16835Gly)
c.50303A>G (p.Asp16768Gly)
c.49928A>G (p.Asp16643Gly)
c.77123A>G (p.Asp25708Gly)
c.72200A>G (p.Asp24067Gly)
n.447-2291T>C
n.2044-13563T>C
c.76220A>G (p.Asp25407Gly)
c.50114A>G (p.Asp16705Gly)
c.49973A>G (p.Asp16658Gly)
c.76016A>G (p.Asp25339Gly)
c.71414A>G (p.Asp23805Gly)
c.71411A>G (p.Asp23804Gly)
c.68453A>G (p.Asp22818Gly)
c.50069A>G (p.Asp16690Gly)
c.71564A>G (p.Asp23855Gly)
c.71561A>G (p.Asp23854Gly)
c.70994A>G (p.Asp23665Gly)
c.68336A>G (p.Asp22779Gly)
c.68255A>G (p.Asp22752Gly)
c.50018A>G (p.Asp16673Gly)
c.39872A>G (p.Asp13291Gly)
2g.178569009T>GCA349612398TTN,TTN-AS1c.69419A>C (p.Asp23140Ala)
c.50504A>C (p.Asp16835Ala)
c.50303A>C (p.Asp16768Ala)
c.49928A>C (p.Asp16643Ala)
c.77123A>C (p.Asp25708Ala)
c.72200A>C (p.Asp24067Ala)
n.447-2291T>G
n.2044-13563T>G
c.76220A>C (p.Asp25407Ala)
c.50114A>C (p.Asp16705Ala)
c.49973A>C (p.Asp16658Ala)
c.76016A>C (p.Asp25339Ala)
c.71414A>C (p.Asp23805Ala)
c.71411A>C (p.Asp23804Ala)
c.68453A>C (p.Asp22818Ala)
c.50069A>C (p.Asp16690Ala)
c.71564A>C (p.Asp23855Ala)
c.71561A>C (p.Asp23854Ala)
c.70994A>C (p.Asp23665Ala)
c.68336A>C (p.Asp22779Ala)
c.68255A>C (p.Asp22752Ala)
c.50018A>C (p.Asp16673Ala)
c.39872A>C (p.Asp13291Ala)
2g.178569009T=CA1310530878TTN,TTN-AS1c.69419A= (p.Asp23140=)
c.50504A= (p.Asp16835=)
c.50303A= (p.Asp16768=)
c.49928A= (p.Asp16643=)
c.77123A= (p.Asp25708=)
c.72200A= (p.Asp24067=)
n.447-2291T=
n.2044-13563T=
c.76220A= (p.Asp25407=)
c.50114A= (p.Asp16705=)
c.49973A= (p.Asp16658=)
c.76016A= (p.Asp25339=)
c.71414A= (p.Asp23805=)
c.71411A= (p.Asp23804=)
c.68453A= (p.Asp22818=)
c.50069A= (p.Asp16690=)
c.71564A= (p.Asp23855=)
c.71561A= (p.Asp23854=)
c.70994A= (p.Asp23665=)
c.68336A= (p.Asp22779=)
c.68255A= (p.Asp22752=)
c.50018A= (p.Asp16673=)
c.39872A= (p.Asp13291=)
2g.178569010C>ACA349612401TTN,TTN-AS1c.69418G>T (p.Asp23140Tyr)
c.50503G>T (p.Asp16835Tyr)
c.50302G>T (p.Asp16768Tyr)
c.49927G>T (p.Asp16643Tyr)
c.77122G>T (p.Asp25708Tyr)
c.72199G>T (p.Asp24067Tyr)
n.447-2290C>A
n.2044-13562C>A
c.76219G>T (p.Asp25407Tyr)
c.50113G>T (p.Asp16705Tyr)
c.49972G>T (p.Asp16658Tyr)
c.76015G>T (p.Asp25339Tyr)
c.71413G>T (p.Asp23805Tyr)
c.71410G>T (p.Asp23804Tyr)
c.68452G>T (p.Asp22818Tyr)
c.50068G>T (p.Asp16690Tyr)
c.71563G>T (p.Asp23855Tyr)
c.71560G>T (p.Asp23854Tyr)
c.70993G>T (p.Asp23665Tyr)
c.68335G>T (p.Asp22779Tyr)
c.68254G>T (p.Asp22752Tyr)
c.50017G>T (p.Asp16673Tyr)
c.39871G>T (p.Asp13291Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178569010C=CA1310530879TTN,TTN-AS1c.69418G= (p.Asp23140=)
c.50503G= (p.Asp16835=)
c.50302G= (p.Asp16768=)
c.49927G= (p.Asp16643=)
c.77122G= (p.Asp25708=)
c.72199G= (p.Asp24067=)
n.447-2290C=
n.2044-13562C=
c.76219G= (p.Asp25407=)
c.50113G= (p.Asp16705=)
c.49972G= (p.Asp16658=)
c.76015G= (p.Asp25339=)
c.71413G= (p.Asp23805=)
c.71410G= (p.Asp23804=)
c.68452G= (p.Asp22818=)
c.50068G= (p.Asp16690=)
c.71563G= (p.Asp23855=)
c.71560G= (p.Asp23854=)
c.70993G= (p.Asp23665=)
c.68335G= (p.Asp22779=)
c.68254G= (p.Asp22752=)
c.50017G= (p.Asp16673=)
c.39871G= (p.Asp13291=)
2g.178569010C>GCA349612404TTN,TTN-AS1c.69418G>C (p.Asp23140His)
c.50503G>C (p.Asp16835His)
c.50302G>C (p.Asp16768His)
c.49927G>C (p.Asp16643His)
c.77122G>C (p.Asp25708His)
c.72199G>C (p.Asp24067His)
n.447-2290C>G
n.2044-13562C>G
c.76219G>C (p.Asp25407His)
c.50113G>C (p.Asp16705His)
c.49972G>C (p.Asp16658His)
c.76015G>C (p.Asp25339His)
c.71413G>C (p.Asp23805His)
c.71410G>C (p.Asp23804His)
c.68452G>C (p.Asp22818His)
c.50068G>C (p.Asp16690His)
c.71563G>C (p.Asp23855His)
c.71560G>C (p.Asp23854His)
c.70993G>C (p.Asp23665His)
c.68335G>C (p.Asp22779His)
c.68254G>C (p.Asp22752His)
c.50017G>C (p.Asp16673His)
c.39871G>C (p.Asp13291His)
2g.178569010C>TCA349612407TTN,TTN-AS1c.69418G>A (p.Asp23140Asn)
c.50503G>A (p.Asp16835Asn)
c.50302G>A (p.Asp16768Asn)
c.49927G>A (p.Asp16643Asn)
c.77122G>A (p.Asp25708Asn)
c.72199G>A (p.Asp24067Asn)
n.447-2290C>T
n.2044-13562C>T
c.76219G>A (p.Asp25407Asn)
c.50113G>A (p.Asp16705Asn)
c.49972G>A (p.Asp16658Asn)
c.76015G>A (p.Asp25339Asn)
c.71413G>A (p.Asp23805Asn)
c.71410G>A (p.Asp23804Asn)
c.68452G>A (p.Asp22818Asn)
c.50068G>A (p.Asp16690Asn)
c.71563G>A (p.Asp23855Asn)
c.71560G>A (p.Asp23854Asn)
c.70993G>A (p.Asp23665Asn)
c.68335G>A (p.Asp22779Asn)
c.68254G>A (p.Asp22752Asn)
c.50017G>A (p.Asp16673Asn)
c.39871G>A (p.Asp13291Asn)
2g.178569011C>ACA430254039TTN,TTN-AS1c.69417G>T (p.Val23139=)
c.50502G>T (p.Val16834=)
c.50301G>T (p.Val16767=)
c.49926G>T (p.Val16642=)
c.77121G>T (p.Val25707=)
c.72198G>T (p.Val24066=)
n.447-2289C>A
n.2044-13561C>A
c.76218G>T (p.Val25406=)
c.50112G>T (p.Val16704=)
c.49971G>T (p.Val16657=)
c.76014G>T (p.Val25338=)
c.71412G>T (p.Val23804=)
c.71409G>T (p.Val23803=)
c.68451G>T (p.Val22817=)
c.50067G>T (p.Val16689=)
c.71562G>T (p.Val23854=)
c.71559G>T (p.Val23853=)
c.70992G>T (p.Val23664=)
c.68334G>T (p.Val22778=)
c.68253G>T (p.Val22751=)
c.50016G>T (p.Val16672=)
c.39870G>T (p.Val13290=)
2g.178569011C>GCA430254040TTN,TTN-AS1c.69417G>C (p.Val23139=)
c.50502G>C (p.Val16834=)
c.50301G>C (p.Val16767=)
c.49926G>C (p.Val16642=)
c.77121G>C (p.Val25707=)
c.72198G>C (p.Val24066=)
n.447-2289C>G
n.2044-13561C>G
c.76218G>C (p.Val25406=)
c.50112G>C (p.Val16704=)
c.49971G>C (p.Val16657=)
c.76014G>C (p.Val25338=)
c.71412G>C (p.Val23804=)
c.71409G>C (p.Val23803=)
c.68451G>C (p.Val22817=)
c.50067G>C (p.Val16689=)
c.71562G>C (p.Val23854=)
c.71559G>C (p.Val23853=)
c.70992G>C (p.Val23664=)
c.68334G>C (p.Val22778=)
c.68253G>C (p.Val22751=)
c.50016G>C (p.Val16672=)
c.39870G>C (p.Val13290=)
2g.178569011C>TCA430254042TTN,TTN-AS1c.69417G>A (p.Val23139=)
c.50502G>A (p.Val16834=)
c.50301G>A (p.Val16767=)
c.49926G>A (p.Val16642=)
c.77121G>A (p.Val25707=)
c.72198G>A (p.Val24066=)
n.447-2289C>T
n.2044-13561C>T
c.76218G>A (p.Val25406=)
c.50112G>A (p.Val16704=)
c.49971G>A (p.Val16657=)
c.76014G>A (p.Val25338=)
c.71412G>A (p.Val23804=)
c.71409G>A (p.Val23803=)
c.68451G>A (p.Val22817=)
c.50067G>A (p.Val16689=)
c.71562G>A (p.Val23854=)
c.71559G>A (p.Val23853=)
c.70992G>A (p.Val23664=)
c.68334G>A (p.Val22778=)
c.68253G>A (p.Val22751=)
c.50016G>A (p.Val16672=)
c.39870G>A (p.Val13290=)
2g.178569013_178569014delCA2580614437TTN,TTN-AS1c.69416_69417del (p.Val23139GlyfsTer2)
c.50501_50502del (p.Val16834GlyfsTer2)
c.50300_50301del (p.Val16767GlyfsTer2)
c.49925_49926del (p.Val16642GlyfsTer2)
c.77120_77121del (p.Val25707GlyfsTer2)
c.72197_72198del (p.Val24066GlyfsTer2)
n.447-2287_447-2286del
n.2044-13559_2044-13558del
c.76217_76218del (p.Val25406GlyfsTer2)
c.50111_50112del (p.Val16704GlyfsTer2)
c.49970_49971del (p.Val16657GlyfsTer2)
c.76013_76014del (p.Val25338GlyfsTer2)
c.71411_71412del (p.Val23804GlyfsTer2)
c.71408_71409del (p.Val23803GlyfsTer2)
c.68450_68451del (p.Val22817GlyfsTer2)
c.50066_50067del (p.Val16689GlyfsTer2)
c.71561_71562del (p.Val23854GlyfsTer2)
c.71558_71559del (p.Val23853GlyfsTer2)
c.70991_70992del (p.Val23664GlyfsTer2)
c.68333_68334del (p.Val22778GlyfsTer2)
c.68252_68253del (p.Val22751GlyfsTer2)
c.50015_50016del (p.Val16672GlyfsTer2)
c.39869_39870del (p.Val13290GlyfsTer2)
 ClinVar
2g.178569012A>CCA349612410TTN,TTN-AS1c.69416T>G (p.Val23139Gly)
c.50501T>G (p.Val16834Gly)
c.50300T>G (p.Val16767Gly)
c.49925T>G (p.Val16642Gly)
c.77120T>G (p.Val25707Gly)
c.72197T>G (p.Val24066Gly)
n.447-2288A>C
n.2044-13560A>C
c.76217T>G (p.Val25406Gly)
c.50111T>G (p.Val16704Gly)
c.49970T>G (p.Val16657Gly)
c.76013T>G (p.Val25338Gly)
c.71411T>G (p.Val23804Gly)
c.71408T>G (p.Val23803Gly)
c.68450T>G (p.Val22817Gly)
c.50066T>G (p.Val16689Gly)
c.71561T>G (p.Val23854Gly)
c.71558T>G (p.Val23853Gly)
c.70991T>G (p.Val23664Gly)
c.68333T>G (p.Val22778Gly)
c.68252T>G (p.Val22751Gly)
c.50015T>G (p.Val16672Gly)
c.39869T>G (p.Val13290Gly)
2g.178569012A>GCA349612413TTN,TTN-AS1c.69416T>C (p.Val23139Ala)
c.50501T>C (p.Val16834Ala)
c.50300T>C (p.Val16767Ala)
c.49925T>C (p.Val16642Ala)
c.77120T>C (p.Val25707Ala)
c.72197T>C (p.Val24066Ala)
n.447-2288A>G
n.2044-13560A>G
c.76217T>C (p.Val25406Ala)
c.50111T>C (p.Val16704Ala)
c.49970T>C (p.Val16657Ala)
c.76013T>C (p.Val25338Ala)
c.71411T>C (p.Val23804Ala)
c.71408T>C (p.Val23803Ala)
c.68450T>C (p.Val22817Ala)
c.50066T>C (p.Val16689Ala)
c.71561T>C (p.Val23854Ala)
c.71558T>C (p.Val23853Ala)
c.70991T>C (p.Val23664Ala)
c.68333T>C (p.Val22778Ala)
c.68252T>C (p.Val22751Ala)
c.50015T>C (p.Val16672Ala)
c.39869T>C (p.Val13290Ala)
2g.178569012A>TCA349612415TTN,TTN-AS1c.69416T>A (p.Val23139Glu)
c.50501T>A (p.Val16834Glu)
c.50300T>A (p.Val16767Glu)
c.49925T>A (p.Val16642Glu)
c.77120T>A (p.Val25707Glu)
c.72197T>A (p.Val24066Glu)
n.447-2288A>T
n.2044-13560A>T
c.76217T>A (p.Val25406Glu)
c.50111T>A (p.Val16704Glu)
c.49970T>A (p.Val16657Glu)
c.76013T>A (p.Val25338Glu)
c.71411T>A (p.Val23804Glu)
c.71408T>A (p.Val23803Glu)
c.68450T>A (p.Val22817Glu)
c.50066T>A (p.Val16689Glu)
c.71561T>A (p.Val23854Glu)
c.71558T>A (p.Val23853Glu)
c.70991T>A (p.Val23664Glu)
c.68333T>A (p.Val22778Glu)
c.68252T>A (p.Val22751Glu)
c.50015T>A (p.Val16672Glu)
c.39869T>A (p.Val13290Glu)
2g.178569013C>ACA349612424TTN,TTN-AS1c.69415G>T (p.Val23139Leu)
c.50500G>T (p.Val16834Leu)
c.50299G>T (p.Val16767Leu)
c.49924G>T (p.Val16642Leu)
c.77119G>T (p.Val25707Leu)
c.72196G>T (p.Val24066Leu)
n.447-2287C>A
n.2044-13559C>A
c.76216G>T (p.Val25406Leu)
c.50110G>T (p.Val16704Leu)
c.49969G>T (p.Val16657Leu)
c.76012G>T (p.Val25338Leu)
c.71410G>T (p.Val23804Leu)
c.71407G>T (p.Val23803Leu)
c.68449G>T (p.Val22817Leu)
c.50065G>T (p.Val16689Leu)
c.71560G>T (p.Val23854Leu)
c.71557G>T (p.Val23853Leu)
c.70990G>T (p.Val23664Leu)
c.68332G>T (p.Val22778Leu)
c.68251G>T (p.Val22751Leu)
c.50014G>T (p.Val16672Leu)
c.39868G>T (p.Val13290Leu)
 gnomAD v4
2g.178569013C=CA1310530881TTN,TTN-AS1c.69415G= (p.Val23139=)
c.50500G= (p.Val16834=)
c.50299G= (p.Val16767=)
c.49924G= (p.Val16642=)
c.77119G= (p.Val25707=)
c.72196G= (p.Val24066=)
n.447-2287C=
n.2044-13559C=
c.76216G= (p.Val25406=)
c.50110G= (p.Val16704=)
c.49969G= (p.Val16657=)
c.76012G= (p.Val25338=)
c.71410G= (p.Val23804=)
c.71407G= (p.Val23803=)
c.68449G= (p.Val22817=)
c.50065G= (p.Val16689=)
c.71560G= (p.Val23854=)
c.71557G= (p.Val23853=)
c.70990G= (p.Val23664=)
c.68332G= (p.Val22778=)
c.68251G= (p.Val22751=)
c.50014G= (p.Val16672=)
c.39868G= (p.Val13290=)
2g.178569013C>GCA349612421TTN,TTN-AS1c.69415G>C (p.Val23139Leu)
c.50500G>C (p.Val16834Leu)
c.50299G>C (p.Val16767Leu)
c.49924G>C (p.Val16642Leu)
c.77119G>C (p.Val25707Leu)
c.72196G>C (p.Val24066Leu)
n.447-2287C>G
n.2044-13559C>G
c.76216G>C (p.Val25406Leu)
c.50110G>C (p.Val16704Leu)
c.49969G>C (p.Val16657Leu)
c.76012G>C (p.Val25338Leu)
c.71410G>C (p.Val23804Leu)
c.71407G>C (p.Val23803Leu)
c.68449G>C (p.Val22817Leu)
c.50065G>C (p.Val16689Leu)
c.71560G>C (p.Val23854Leu)
c.71557G>C (p.Val23853Leu)
c.70990G>C (p.Val23664Leu)
c.68332G>C (p.Val22778Leu)
c.68251G>C (p.Val22751Leu)
c.50014G>C (p.Val16672Leu)
c.39868G>C (p.Val13290Leu)
2g.178569013C>TCA349612419TTN,TTN-AS1c.69415G>A (p.Val23139Met)
c.50500G>A (p.Val16834Met)
c.50299G>A (p.Val16767Met)
c.49924G>A (p.Val16642Met)
c.77119G>A (p.Val25707Met)
c.72196G>A (p.Val24066Met)
n.447-2287C>T
n.2044-13559C>T
c.76216G>A (p.Val25406Met)
c.50110G>A (p.Val16704Met)
c.49969G>A (p.Val16657Met)
c.76012G>A (p.Val25338Met)
c.71410G>A (p.Val23804Met)
c.71407G>A (p.Val23803Met)
c.68449G>A (p.Val22817Met)
c.50065G>A (p.Val16689Met)
c.71560G>A (p.Val23854Met)
c.71557G>A (p.Val23853Met)
c.70990G>A (p.Val23664Met)
c.68332G>A (p.Val22778Met)
c.68251G>A (p.Val22751Met)
c.50014G>A (p.Val16672Met)
c.39868G>A (p.Val13290Met)
 dbSNP gnomAD v2 gnomAD v4
2g.178569014A>CCA430254047TTN,TTN-AS1c.69414T>G (p.Thr23138=)
c.50499T>G (p.Thr16833=)
c.50298T>G (p.Thr16766=)
c.49923T>G (p.Thr16641=)
c.77118T>G (p.Thr25706=)
c.72195T>G (p.Thr24065=)
n.447-2286A>C
n.2044-13558A>C
c.76215T>G (p.Thr25405=)
c.50109T>G (p.Thr16703=)
c.49968T>G (p.Thr16656=)
c.76011T>G (p.Thr25337=)
c.71409T>G (p.Thr23803=)
c.71406T>G (p.Thr23802=)
c.68448T>G (p.Thr22816=)
c.50064T>G (p.Thr16688=)
c.71559T>G (p.Thr23853=)
c.71556T>G (p.Thr23852=)
c.70989T>G (p.Thr23663=)
c.68331T>G (p.Thr22777=)
c.68250T>G (p.Thr22750=)
c.50013T>G (p.Thr16671=)
c.39867T>G (p.Thr13289=)
2g.178569014A>GCA430254051TTN,TTN-AS1c.69414T>C (p.Thr23138=)
c.50499T>C (p.Thr16833=)
c.50298T>C (p.Thr16766=)
c.49923T>C (p.Thr16641=)
c.77118T>C (p.Thr25706=)
c.72195T>C (p.Thr24065=)
n.447-2286A>G
n.2044-13558A>G
c.76215T>C (p.Thr25405=)
c.50109T>C (p.Thr16703=)
c.49968T>C (p.Thr16656=)
c.76011T>C (p.Thr25337=)
c.71409T>C (p.Thr23803=)
c.71406T>C (p.Thr23802=)
c.68448T>C (p.Thr22816=)
c.50064T>C (p.Thr16688=)
c.71559T>C (p.Thr23853=)
c.71556T>C (p.Thr23852=)
c.70989T>C (p.Thr23663=)
c.68331T>C (p.Thr22777=)
c.68250T>C (p.Thr22750=)
c.50013T>C (p.Thr16671=)
c.39867T>C (p.Thr13289=)

Number of alleles fetched