Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178593224T>ACA349500122TTN,TTN-AS1c.51280A>T (p.Ile17094Phe)
c.32365A>T (p.Ile10789Phe)
c.32164A>T (p.Ile10722Phe)
c.31789A>T (p.Ile10597Phe)
c.58984A>T (p.Ile19662Phe)
c.54061A>T (p.Ile18021Phe)
n.597-4372T>A
n.3364+1910T>A
c.58081A>T (p.Ile19361Phe)
c.31975A>T (p.Ile10659Phe)
c.31834A>T (p.Ile10612Phe)
c.57877A>T (p.Ile19293Phe)
c.53275A>T (p.Ile17759Phe)
c.53272A>T (p.Ile17758Phe)
c.50314A>T (p.Ile16772Phe)
c.31930A>T (p.Ile10644Phe)
c.53425A>T (p.Ile17809Phe)
c.53422A>T (p.Ile17808Phe)
c.52855A>T (p.Ile17619Phe)
c.50197A>T (p.Ile16733Phe)
c.50116A>T (p.Ile16706Phe)
c.31879A>T (p.Ile10627Phe)
c.21733A>T (p.Ile7245Phe)
 dbSNP
2g.178593224T>CCA10611651TTN,TTN-AS1c.51280A>G (p.Ile17094Val)
c.32365A>G (p.Ile10789Val)
c.32164A>G (p.Ile10722Val)
c.31789A>G (p.Ile10597Val)
c.58984A>G (p.Ile19662Val)
c.54061A>G (p.Ile18021Val)
n.597-4372T>C
n.3364+1910T>C
c.58081A>G (p.Ile19361Val)
c.31975A>G (p.Ile10659Val)
c.31834A>G (p.Ile10612Val)
c.57877A>G (p.Ile19293Val)
c.53275A>G (p.Ile17759Val)
c.53272A>G (p.Ile17758Val)
c.50314A>G (p.Ile16772Val)
c.31930A>G (p.Ile10644Val)
c.53425A>G (p.Ile17809Val)
c.53422A>G (p.Ile17808Val)
c.52855A>G (p.Ile17619Val)
c.50197A>G (p.Ile16733Val)
c.50116A>G (p.Ile16706Val)
c.31879A>G (p.Ile10627Val)
c.21733A>G (p.Ile7245Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178593224T>GCA349500123TTN,TTN-AS1c.51280A>C (p.Ile17094Leu)
c.32365A>C (p.Ile10789Leu)
c.32164A>C (p.Ile10722Leu)
c.31789A>C (p.Ile10597Leu)
c.58984A>C (p.Ile19662Leu)
c.54061A>C (p.Ile18021Leu)
n.597-4372T>G
n.3364+1910T>G
c.58081A>C (p.Ile19361Leu)
c.31975A>C (p.Ile10659Leu)
c.31834A>C (p.Ile10612Leu)
c.57877A>C (p.Ile19293Leu)
c.53275A>C (p.Ile17759Leu)
c.53272A>C (p.Ile17758Leu)
c.50314A>C (p.Ile16772Leu)
c.31930A>C (p.Ile10644Leu)
c.53425A>C (p.Ile17809Leu)
c.53422A>C (p.Ile17808Leu)
c.52855A>C (p.Ile17619Leu)
c.50197A>C (p.Ile16733Leu)
c.50116A>C (p.Ile16706Leu)
c.31879A>C (p.Ile10627Leu)
c.21733A>C (p.Ile7245Leu)
2g.178593224T=CA1310540435TTN,TTN-AS1c.51280A= (p.Ile17094=)
c.32365A= (p.Ile10789=)
c.32164A= (p.Ile10722=)
c.31789A= (p.Ile10597=)
c.58984A= (p.Ile19662=)
c.54061A= (p.Ile18021=)
n.597-4372T=
n.3364+1910T=
c.58081A= (p.Ile19361=)
c.31975A= (p.Ile10659=)
c.31834A= (p.Ile10612=)
c.57877A= (p.Ile19293=)
c.53275A= (p.Ile17759=)
c.53272A= (p.Ile17758=)
c.50314A= (p.Ile16772=)
c.31930A= (p.Ile10644=)
c.53425A= (p.Ile17809=)
c.53422A= (p.Ile17808=)
c.52855A= (p.Ile17619=)
c.50197A= (p.Ile16733=)
c.50116A= (p.Ile16706=)
c.31879A= (p.Ile10627=)
c.21733A= (p.Ile7245=)
2g.178593225A=CA1310540437TTN,TTN-AS1c.51279T= (p.Gly17093=)
c.32364T= (p.Gly10788=)
c.32163T= (p.Gly10721=)
c.31788T= (p.Gly10596=)
c.58983T= (p.Gly19661=)
c.54060T= (p.Gly18020=)
n.597-4371A=
n.3364+1911A=
c.58080T= (p.Gly19360=)
c.31974T= (p.Gly10658=)
c.31833T= (p.Gly10611=)
c.57876T= (p.Gly19292=)
c.53274T= (p.Gly17758=)
c.53271T= (p.Gly17757=)
c.50313T= (p.Gly16771=)
c.31929T= (p.Gly10643=)
c.53424T= (p.Gly17808=)
c.53421T= (p.Gly17807=)
c.52854T= (p.Gly17618=)
c.50196T= (p.Gly16732=)
c.50115T= (p.Gly16705=)
c.31878T= (p.Gly10626=)
c.21732T= (p.Gly7244=)
2g.178593225A>CCA430267375TTN,TTN-AS1c.51279T>G (p.Gly17093=)
c.32364T>G (p.Gly10788=)
c.32163T>G (p.Gly10721=)
c.31788T>G (p.Gly10596=)
c.58983T>G (p.Gly19661=)
c.54060T>G (p.Gly18020=)
n.597-4371A>C
n.3364+1911A>C
c.58080T>G (p.Gly19360=)
c.31974T>G (p.Gly10658=)
c.31833T>G (p.Gly10611=)
c.57876T>G (p.Gly19292=)
c.53274T>G (p.Gly17758=)
c.53271T>G (p.Gly17757=)
c.50313T>G (p.Gly16771=)
c.31929T>G (p.Gly10643=)
c.53424T>G (p.Gly17808=)
c.53421T>G (p.Gly17807=)
c.52854T>G (p.Gly17618=)
c.50196T>G (p.Gly16732=)
c.50115T>G (p.Gly16705=)
c.31878T>G (p.Gly10626=)
c.21732T>G (p.Gly7244=)
2g.178593225A>GCA430267376TTN,TTN-AS1c.51279T>C (p.Gly17093=)
c.32364T>C (p.Gly10788=)
c.32163T>C (p.Gly10721=)
c.31788T>C (p.Gly10596=)
c.58983T>C (p.Gly19661=)
c.54060T>C (p.Gly18020=)
n.597-4371A>G
n.3364+1911A>G
c.58080T>C (p.Gly19360=)
c.31974T>C (p.Gly10658=)
c.31833T>C (p.Gly10611=)
c.57876T>C (p.Gly19292=)
c.53274T>C (p.Gly17758=)
c.53271T>C (p.Gly17757=)
c.50313T>C (p.Gly16771=)
c.31929T>C (p.Gly10643=)
c.53424T>C (p.Gly17808=)
c.53421T>C (p.Gly17807=)
c.52854T>C (p.Gly17618=)
c.50196T>C (p.Gly16732=)
c.50115T>C (p.Gly16705=)
c.31878T>C (p.Gly10626=)
c.21732T>C (p.Gly7244=)
2g.178593225A>TCA430267377TTN,TTN-AS1c.51279T>A (p.Gly17093=)
c.32364T>A (p.Gly10788=)
c.32163T>A (p.Gly10721=)
c.31788T>A (p.Gly10596=)
c.58983T>A (p.Gly19661=)
c.54060T>A (p.Gly18020=)
n.597-4371A>T
n.3364+1911A>T
c.58080T>A (p.Gly19360=)
c.31974T>A (p.Gly10658=)
c.31833T>A (p.Gly10611=)
c.57876T>A (p.Gly19292=)
c.53274T>A (p.Gly17758=)
c.53271T>A (p.Gly17757=)
c.50313T>A (p.Gly16771=)
c.31929T>A (p.Gly10643=)
c.53424T>A (p.Gly17808=)
c.53421T>A (p.Gly17807=)
c.52854T>A (p.Gly17618=)
c.50196T>A (p.Gly16732=)
c.50115T>A (p.Gly16705=)
c.31878T>A (p.Gly10626=)
c.21732T>A (p.Gly7244=)
 dbSNP gnomAD v4
2g.178593226C>ACA349500124TTN,TTN-AS1c.51278G>T (p.Gly17093Val)
c.32363G>T (p.Gly10788Val)
c.32162G>T (p.Gly10721Val)
c.31787G>T (p.Gly10596Val)
c.58982G>T (p.Gly19661Val)
c.54059G>T (p.Gly18020Val)
n.597-4370C>A
n.3364+1912C>A
c.58079G>T (p.Gly19360Val)
c.31973G>T (p.Gly10658Val)
c.31832G>T (p.Gly10611Val)
c.57875G>T (p.Gly19292Val)
c.53273G>T (p.Gly17758Val)
c.53270G>T (p.Gly17757Val)
c.50312G>T (p.Gly16771Val)
c.31928G>T (p.Gly10643Val)
c.53423G>T (p.Gly17808Val)
c.53420G>T (p.Gly17807Val)
c.52853G>T (p.Gly17618Val)
c.50195G>T (p.Gly16732Val)
c.50114G>T (p.Gly16705Val)
c.31877G>T (p.Gly10626Val)
c.21731G>T (p.Gly7244Val)
2g.178593226C=CA1310540438TTN,TTN-AS1c.51278G= (p.Gly17093=)
c.32363G= (p.Gly10788=)
c.32162G= (p.Gly10721=)
c.31787G= (p.Gly10596=)
c.58982G= (p.Gly19661=)
c.54059G= (p.Gly18020=)
n.597-4370C=
n.3364+1912C=
c.58079G= (p.Gly19360=)
c.31973G= (p.Gly10658=)
c.31832G= (p.Gly10611=)
c.57875G= (p.Gly19292=)
c.53273G= (p.Gly17758=)
c.53270G= (p.Gly17757=)
c.50312G= (p.Gly16771=)
c.31928G= (p.Gly10643=)
c.53423G= (p.Gly17808=)
c.53420G= (p.Gly17807=)
c.52853G= (p.Gly17618=)
c.50195G= (p.Gly16732=)
c.50114G= (p.Gly16705=)
c.31877G= (p.Gly10626=)
c.21731G= (p.Gly7244=)
2g.178593226C>GCA349500125TTN,TTN-AS1c.51278G>C (p.Gly17093Ala)
c.32363G>C (p.Gly10788Ala)
c.32162G>C (p.Gly10721Ala)
c.31787G>C (p.Gly10596Ala)
c.58982G>C (p.Gly19661Ala)
c.54059G>C (p.Gly18020Ala)
n.597-4370C>G
n.3364+1912C>G
c.58079G>C (p.Gly19360Ala)
c.31973G>C (p.Gly10658Ala)
c.31832G>C (p.Gly10611Ala)
c.57875G>C (p.Gly19292Ala)
c.53273G>C (p.Gly17758Ala)
c.53270G>C (p.Gly17757Ala)
c.50312G>C (p.Gly16771Ala)
c.31928G>C (p.Gly10643Ala)
c.53423G>C (p.Gly17808Ala)
c.53420G>C (p.Gly17807Ala)
c.52853G>C (p.Gly17618Ala)
c.50195G>C (p.Gly16732Ala)
c.50114G>C (p.Gly16705Ala)
c.31877G>C (p.Gly10626Ala)
c.21731G>C (p.Gly7244Ala)
2g.178593226C>TCA140115TTN,TTN-AS1c.51278G>A (p.Gly17093Asp)
c.32363G>A (p.Gly10788Asp)
c.32162G>A (p.Gly10721Asp)
c.31787G>A (p.Gly10596Asp)
c.58982G>A (p.Gly19661Asp)
c.54059G>A (p.Gly18020Asp)
n.597-4370C>T
n.3364+1912C>T
c.58079G>A (p.Gly19360Asp)
c.31973G>A (p.Gly10658Asp)
c.31832G>A (p.Gly10611Asp)
c.57875G>A (p.Gly19292Asp)
c.53273G>A (p.Gly17758Asp)
c.53270G>A (p.Gly17757Asp)
c.50312G>A (p.Gly16771Asp)
c.31928G>A (p.Gly10643Asp)
c.53423G>A (p.Gly17808Asp)
c.53420G>A (p.Gly17807Asp)
c.52853G>A (p.Gly17618Asp)
c.50195G>A (p.Gly16732Asp)
c.50114G>A (p.Gly16705Asp)
c.31877G>A (p.Gly10626Asp)
c.21731G>A (p.Gly7244Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178593227C>ACA349500126TTN,TTN-AS1c.51277G>T (p.Gly17093Cys)
c.32362G>T (p.Gly10788Cys)
c.32161G>T (p.Gly10721Cys)
c.31786G>T (p.Gly10596Cys)
c.58981G>T (p.Gly19661Cys)
c.54058G>T (p.Gly18020Cys)
n.597-4369C>A
n.3364+1913C>A
c.58078G>T (p.Gly19360Cys)
c.31972G>T (p.Gly10658Cys)
c.31831G>T (p.Gly10611Cys)
c.57874G>T (p.Gly19292Cys)
c.53272G>T (p.Gly17758Cys)
c.53269G>T (p.Gly17757Cys)
c.50311G>T (p.Gly16771Cys)
c.31927G>T (p.Gly10643Cys)
c.53422G>T (p.Gly17808Cys)
c.53419G>T (p.Gly17807Cys)
c.52852G>T (p.Gly17618Cys)
c.50194G>T (p.Gly16732Cys)
c.50113G>T (p.Gly16705Cys)
c.31876G>T (p.Gly10626Cys)
c.21730G>T (p.Gly7244Cys)
2g.178593227C>GCA349500127TTN,TTN-AS1c.51277G>C (p.Gly17093Arg)
c.32362G>C (p.Gly10788Arg)
c.32161G>C (p.Gly10721Arg)
c.31786G>C (p.Gly10596Arg)
c.58981G>C (p.Gly19661Arg)
c.54058G>C (p.Gly18020Arg)
n.597-4369C>G
n.3364+1913C>G
c.58078G>C (p.Gly19360Arg)
c.31972G>C (p.Gly10658Arg)
c.31831G>C (p.Gly10611Arg)
c.57874G>C (p.Gly19292Arg)
c.53272G>C (p.Gly17758Arg)
c.53269G>C (p.Gly17757Arg)
c.50311G>C (p.Gly16771Arg)
c.31927G>C (p.Gly10643Arg)
c.53422G>C (p.Gly17808Arg)
c.53419G>C (p.Gly17807Arg)
c.52852G>C (p.Gly17618Arg)
c.50194G>C (p.Gly16732Arg)
c.50113G>C (p.Gly16705Arg)
c.31876G>C (p.Gly10626Arg)
c.21730G>C (p.Gly7244Arg)
2g.178593227C>TCA349500128TTN,TTN-AS1c.51277G>A (p.Gly17093Ser)
c.32362G>A (p.Gly10788Ser)
c.32161G>A (p.Gly10721Ser)
c.31786G>A (p.Gly10596Ser)
c.58981G>A (p.Gly19661Ser)
c.54058G>A (p.Gly18020Ser)
n.597-4369C>T
n.3364+1913C>T
c.58078G>A (p.Gly19360Ser)
c.31972G>A (p.Gly10658Ser)
c.31831G>A (p.Gly10611Ser)
c.57874G>A (p.Gly19292Ser)
c.53272G>A (p.Gly17758Ser)
c.53269G>A (p.Gly17757Ser)
c.50311G>A (p.Gly16771Ser)
c.31927G>A (p.Gly10643Ser)
c.53422G>A (p.Gly17808Ser)
c.53419G>A (p.Gly17807Ser)
c.52852G>A (p.Gly17618Ser)
c.50194G>A (p.Gly16732Ser)
c.50113G>A (p.Gly16705Ser)
c.31876G>A (p.Gly10626Ser)
c.21730G>A (p.Gly7244Ser)
 gnomAD v4
2g.178593228A=CA1310540440TTN,TTN-AS1c.51276T= (p.Ile17092=)
c.32361T= (p.Ile10787=)
c.32160T= (p.Ile10720=)
c.31785T= (p.Ile10595=)
c.58980T= (p.Ile19660=)
c.54057T= (p.Ile18019=)
n.597-4368A=
n.3364+1914A=
c.58077T= (p.Ile19359=)
c.31971T= (p.Ile10657=)
c.31830T= (p.Ile10610=)
c.57873T= (p.Ile19291=)
c.53271T= (p.Ile17757=)
c.53268T= (p.Ile17756=)
c.50310T= (p.Ile16770=)
c.31926T= (p.Ile10642=)
c.53421T= (p.Ile17807=)
c.53418T= (p.Ile17806=)
c.52851T= (p.Ile17617=)
c.50193T= (p.Ile16731=)
c.50112T= (p.Ile16704=)
c.31875T= (p.Ile10625=)
c.21729T= (p.Ile7243=)
2g.178593228A>CCA1992747TTN,TTN-AS1c.51276T>G (p.Ile17092Met)
c.32361T>G (p.Ile10787Met)
c.32160T>G (p.Ile10720Met)
c.31785T>G (p.Ile10595Met)
c.58980T>G (p.Ile19660Met)
c.54057T>G (p.Ile18019Met)
n.597-4368A>C
n.3364+1914A>C
c.58077T>G (p.Ile19359Met)
c.31971T>G (p.Ile10657Met)
c.31830T>G (p.Ile10610Met)
c.57873T>G (p.Ile19291Met)
c.53271T>G (p.Ile17757Met)
c.53268T>G (p.Ile17756Met)
c.50310T>G (p.Ile16770Met)
c.31926T>G (p.Ile10642Met)
c.53421T>G (p.Ile17807Met)
c.53418T>G (p.Ile17806Met)
c.52851T>G (p.Ile17617Met)
c.50193T>G (p.Ile16731Met)
c.50112T>G (p.Ile16704Met)
c.31875T>G (p.Ile10625Met)
c.21729T>G (p.Ile7243Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178593228A>GCA430267384TTN,TTN-AS1c.51276T>C (p.Ile17092=)
c.32361T>C (p.Ile10787=)
c.32160T>C (p.Ile10720=)
c.31785T>C (p.Ile10595=)
c.58980T>C (p.Ile19660=)
c.54057T>C (p.Ile18019=)
n.597-4368A>G
n.3364+1914A>G
c.58077T>C (p.Ile19359=)
c.31971T>C (p.Ile10657=)
c.31830T>C (p.Ile10610=)
c.57873T>C (p.Ile19291=)
c.53271T>C (p.Ile17757=)
c.53268T>C (p.Ile17756=)
c.50310T>C (p.Ile16770=)
c.31926T>C (p.Ile10642=)
c.53421T>C (p.Ile17807=)
c.53418T>C (p.Ile17806=)
c.52851T>C (p.Ile17617=)
c.50193T>C (p.Ile16731=)
c.50112T>C (p.Ile16704=)
c.31875T>C (p.Ile10625=)
c.21729T>C (p.Ile7243=)
2g.178593228A>TCA430267385TTN,TTN-AS1c.51276T>A (p.Ile17092=)
c.32361T>A (p.Ile10787=)
c.32160T>A (p.Ile10720=)
c.31785T>A (p.Ile10595=)
c.58980T>A (p.Ile19660=)
c.54057T>A (p.Ile18019=)
n.597-4368A>T
n.3364+1914A>T
c.58077T>A (p.Ile19359=)
c.31971T>A (p.Ile10657=)
c.31830T>A (p.Ile10610=)
c.57873T>A (p.Ile19291=)
c.53271T>A (p.Ile17757=)
c.53268T>A (p.Ile17756=)
c.50310T>A (p.Ile16770=)
c.31926T>A (p.Ile10642=)
c.53421T>A (p.Ile17807=)
c.53418T>A (p.Ile17806=)
c.52851T>A (p.Ile17617=)
c.50193T>A (p.Ile16731=)
c.50112T>A (p.Ile16704=)
c.31875T>A (p.Ile10625=)
c.21729T>A (p.Ile7243=)
2g.178593229A=CA1310540442TTN,TTN-AS1c.51275T= (p.Ile17092=)
c.32360T= (p.Ile10787=)
c.32159T= (p.Ile10720=)
c.31784T= (p.Ile10595=)
c.58979T= (p.Ile19660=)
c.54056T= (p.Ile18019=)
n.597-4367A=
n.3364+1915A=
c.58076T= (p.Ile19359=)
c.31970T= (p.Ile10657=)
c.31829T= (p.Ile10610=)
c.57872T= (p.Ile19291=)
c.53270T= (p.Ile17757=)
c.53267T= (p.Ile17756=)
c.50309T= (p.Ile16770=)
c.31925T= (p.Ile10642=)
c.53420T= (p.Ile17807=)
c.53417T= (p.Ile17806=)
c.52850T= (p.Ile17617=)
c.50192T= (p.Ile16731=)
c.50111T= (p.Ile16704=)
c.31874T= (p.Ile10625=)
c.21728T= (p.Ile7243=)
2g.178593229A>CCA349500132TTN,TTN-AS1c.51275T>G (p.Ile17092Ser)
c.32360T>G (p.Ile10787Ser)
c.32159T>G (p.Ile10720Ser)
c.31784T>G (p.Ile10595Ser)
c.58979T>G (p.Ile19660Ser)
c.54056T>G (p.Ile18019Ser)
n.597-4367A>C
n.3364+1915A>C
c.58076T>G (p.Ile19359Ser)
c.31970T>G (p.Ile10657Ser)
c.31829T>G (p.Ile10610Ser)
c.57872T>G (p.Ile19291Ser)
c.53270T>G (p.Ile17757Ser)
c.53267T>G (p.Ile17756Ser)
c.50309T>G (p.Ile16770Ser)
c.31925T>G (p.Ile10642Ser)
c.53420T>G (p.Ile17807Ser)
c.53417T>G (p.Ile17806Ser)
c.52850T>G (p.Ile17617Ser)
c.50192T>G (p.Ile16731Ser)
c.50111T>G (p.Ile16704Ser)
c.31874T>G (p.Ile10625Ser)
c.21728T>G (p.Ile7243Ser)
2g.178593229A>GCA60971219TTN,TTN-AS1c.51275T>C (p.Ile17092Thr)
c.32360T>C (p.Ile10787Thr)
c.32159T>C (p.Ile10720Thr)
c.31784T>C (p.Ile10595Thr)
c.58979T>C (p.Ile19660Thr)
c.54056T>C (p.Ile18019Thr)
n.597-4367A>G
n.3364+1915A>G
c.58076T>C (p.Ile19359Thr)
c.31970T>C (p.Ile10657Thr)
c.31829T>C (p.Ile10610Thr)
c.57872T>C (p.Ile19291Thr)
c.53270T>C (p.Ile17757Thr)
c.53267T>C (p.Ile17756Thr)
c.50309T>C (p.Ile16770Thr)
c.31925T>C (p.Ile10642Thr)
c.53420T>C (p.Ile17807Thr)
c.53417T>C (p.Ile17806Thr)
c.52850T>C (p.Ile17617Thr)
c.50192T>C (p.Ile16731Thr)
c.50111T>C (p.Ile16704Thr)
c.31874T>C (p.Ile10625Thr)
c.21728T>C (p.Ile7243Thr)
 dbSNP gnomAD v4
2g.178593229A>TCA349500131TTN,TTN-AS1c.51275T>A (p.Ile17092Asn)
c.32360T>A (p.Ile10787Asn)
c.32159T>A (p.Ile10720Asn)
c.31784T>A (p.Ile10595Asn)
c.58979T>A (p.Ile19660Asn)
c.54056T>A (p.Ile18019Asn)
n.597-4367A>T
n.3364+1915A>T
c.58076T>A (p.Ile19359Asn)
c.31970T>A (p.Ile10657Asn)
c.31829T>A (p.Ile10610Asn)
c.57872T>A (p.Ile19291Asn)
c.53270T>A (p.Ile17757Asn)
c.53267T>A (p.Ile17756Asn)
c.50309T>A (p.Ile16770Asn)
c.31925T>A (p.Ile10642Asn)
c.53420T>A (p.Ile17807Asn)
c.53417T>A (p.Ile17806Asn)
c.52850T>A (p.Ile17617Asn)
c.50192T>A (p.Ile16731Asn)
c.50111T>A (p.Ile16704Asn)
c.31874T>A (p.Ile10625Asn)
c.21728T>A (p.Ile7243Asn)
2g.178593230T>ACA349500135TTN,TTN-AS1c.51274A>T (p.Ile17092Phe)
c.32359A>T (p.Ile10787Phe)
c.32158A>T (p.Ile10720Phe)
c.31783A>T (p.Ile10595Phe)
c.58978A>T (p.Ile19660Phe)
c.54055A>T (p.Ile18019Phe)
n.597-4366T>A
n.3364+1916T>A
c.58075A>T (p.Ile19359Phe)
c.31969A>T (p.Ile10657Phe)
c.31828A>T (p.Ile10610Phe)
c.57871A>T (p.Ile19291Phe)
c.53269A>T (p.Ile17757Phe)
c.53266A>T (p.Ile17756Phe)
c.50308A>T (p.Ile16770Phe)
c.31924A>T (p.Ile10642Phe)
c.53419A>T (p.Ile17807Phe)
c.53416A>T (p.Ile17806Phe)
c.52849A>T (p.Ile17617Phe)
c.50191A>T (p.Ile16731Phe)
c.50110A>T (p.Ile16704Phe)
c.31873A>T (p.Ile10625Phe)
c.21727A>T (p.Ile7243Phe)
2g.178593230T>CCA349500138TTN,TTN-AS1c.51274A>G (p.Ile17092Val)
c.32359A>G (p.Ile10787Val)
c.32158A>G (p.Ile10720Val)
c.31783A>G (p.Ile10595Val)
c.58978A>G (p.Ile19660Val)
c.54055A>G (p.Ile18019Val)
n.597-4366T>C
n.3364+1916T>C
c.58075A>G (p.Ile19359Val)
c.31969A>G (p.Ile10657Val)
c.31828A>G (p.Ile10610Val)
c.57871A>G (p.Ile19291Val)
c.53269A>G (p.Ile17757Val)
c.53266A>G (p.Ile17756Val)
c.50308A>G (p.Ile16770Val)
c.31924A>G (p.Ile10642Val)
c.53419A>G (p.Ile17807Val)
c.53416A>G (p.Ile17806Val)
c.52849A>G (p.Ile17617Val)
c.50191A>G (p.Ile16731Val)
c.50110A>G (p.Ile16704Val)
c.31873A>G (p.Ile10625Val)
c.21727A>G (p.Ile7243Val)
2g.178593230T>GCA349500143TTN,TTN-AS1c.51274A>C (p.Ile17092Leu)
c.32359A>C (p.Ile10787Leu)
c.32158A>C (p.Ile10720Leu)
c.31783A>C (p.Ile10595Leu)
c.58978A>C (p.Ile19660Leu)
c.54055A>C (p.Ile18019Leu)
n.597-4366T>G
n.3364+1916T>G
c.58075A>C (p.Ile19359Leu)
c.31969A>C (p.Ile10657Leu)
c.31828A>C (p.Ile10610Leu)
c.57871A>C (p.Ile19291Leu)
c.53269A>C (p.Ile17757Leu)
c.53266A>C (p.Ile17756Leu)
c.50308A>C (p.Ile16770Leu)
c.31924A>C (p.Ile10642Leu)
c.53419A>C (p.Ile17807Leu)
c.53416A>C (p.Ile17806Leu)
c.52849A>C (p.Ile17617Leu)
c.50191A>C (p.Ile16731Leu)
c.50110A>C (p.Ile16704Leu)
c.31873A>C (p.Ile10625Leu)
c.21727A>C (p.Ile7243Leu)
2g.178593231T>ACA349500148TTN,TTN-AS1c.51273A>T (p.Glu17091Asp)
c.32358A>T (p.Glu10786Asp)
c.32157A>T (p.Glu10719Asp)
c.31782A>T (p.Glu10594Asp)
c.58977A>T (p.Glu19659Asp)
c.54054A>T (p.Glu18018Asp)
n.597-4365T>A
n.3364+1917T>A
c.58074A>T (p.Glu19358Asp)
c.31968A>T (p.Glu10656Asp)
c.31827A>T (p.Glu10609Asp)
c.57870A>T (p.Glu19290Asp)
c.53268A>T (p.Glu17756Asp)
c.53265A>T (p.Glu17755Asp)
c.50307A>T (p.Glu16769Asp)
c.31923A>T (p.Glu10641Asp)
c.53418A>T (p.Glu17806Asp)
c.53415A>T (p.Glu17805Asp)
c.52848A>T (p.Glu17616Asp)
c.50190A>T (p.Glu16730Asp)
c.50109A>T (p.Glu16703Asp)
c.31872A>T (p.Glu10624Asp)
c.21726A>T (p.Glu7242Asp)
2g.178593231T>CCA430267392TTN,TTN-AS1c.51273A>G (p.Glu17091=)
c.32358A>G (p.Glu10786=)
c.32157A>G (p.Glu10719=)
c.31782A>G (p.Glu10594=)
c.58977A>G (p.Glu19659=)
c.54054A>G (p.Glu18018=)
n.597-4365T>C
n.3364+1917T>C
c.58074A>G (p.Glu19358=)
c.31968A>G (p.Glu10656=)
c.31827A>G (p.Glu10609=)
c.57870A>G (p.Glu19290=)
c.53268A>G (p.Glu17756=)
c.53265A>G (p.Glu17755=)
c.50307A>G (p.Glu16769=)
c.31923A>G (p.Glu10641=)
c.53418A>G (p.Glu17806=)
c.53415A>G (p.Glu17805=)
c.52848A>G (p.Glu17616=)
c.50190A>G (p.Glu16730=)
c.50109A>G (p.Glu16703=)
c.31872A>G (p.Glu10624=)
c.21726A>G (p.Glu7242=)
2g.178593231T>GCA349500152TTN,TTN-AS1c.51273A>C (p.Glu17091Asp)
c.32358A>C (p.Glu10786Asp)
c.32157A>C (p.Glu10719Asp)
c.31782A>C (p.Glu10594Asp)
c.58977A>C (p.Glu19659Asp)
c.54054A>C (p.Glu18018Asp)
n.597-4365T>G
n.3364+1917T>G
c.58074A>C (p.Glu19358Asp)
c.31968A>C (p.Glu10656Asp)
c.31827A>C (p.Glu10609Asp)
c.57870A>C (p.Glu19290Asp)
c.53268A>C (p.Glu17756Asp)
c.53265A>C (p.Glu17755Asp)
c.50307A>C (p.Glu16769Asp)
c.31923A>C (p.Glu10641Asp)
c.53418A>C (p.Glu17806Asp)
c.53415A>C (p.Glu17805Asp)
c.52848A>C (p.Glu17616Asp)
c.50190A>C (p.Glu16730Asp)
c.50109A>C (p.Glu16703Asp)
c.31872A>C (p.Glu10624Asp)
c.21726A>C (p.Glu7242Asp)
 gnomAD v4
2g.178593232T>ACA349500161TTN,TTN-AS1c.51272A>T (p.Glu17091Val)
c.32357A>T (p.Glu10786Val)
c.32156A>T (p.Glu10719Val)
c.31781A>T (p.Glu10594Val)
c.58976A>T (p.Glu19659Val)
c.54053A>T (p.Glu18018Val)
n.597-4364T>A
n.3364+1918T>A
c.58073A>T (p.Glu19358Val)
c.31967A>T (p.Glu10656Val)
c.31826A>T (p.Glu10609Val)
c.57869A>T (p.Glu19290Val)
c.53267A>T (p.Glu17756Val)
c.53264A>T (p.Glu17755Val)
c.50306A>T (p.Glu16769Val)
c.31922A>T (p.Glu10641Val)
c.53417A>T (p.Glu17806Val)
c.53414A>T (p.Glu17805Val)
c.52847A>T (p.Glu17616Val)
c.50189A>T (p.Glu16730Val)
c.50108A>T (p.Glu16703Val)
c.31871A>T (p.Glu10624Val)
c.21725A>T (p.Glu7242Val)
2g.178593232T>CCA349500155TTN,TTN-AS1c.51272A>G (p.Glu17091Gly)
c.32357A>G (p.Glu10786Gly)
c.32156A>G (p.Glu10719Gly)
c.31781A>G (p.Glu10594Gly)
c.58976A>G (p.Glu19659Gly)
c.54053A>G (p.Glu18018Gly)
n.597-4364T>C
n.3364+1918T>C
c.58073A>G (p.Glu19358Gly)
c.31967A>G (p.Glu10656Gly)
c.31826A>G (p.Glu10609Gly)
c.57869A>G (p.Glu19290Gly)
c.53267A>G (p.Glu17756Gly)
c.53264A>G (p.Glu17755Gly)
c.50306A>G (p.Glu16769Gly)
c.31922A>G (p.Glu10641Gly)
c.53417A>G (p.Glu17806Gly)
c.53414A>G (p.Glu17805Gly)
c.52847A>G (p.Glu17616Gly)
c.50189A>G (p.Glu16730Gly)
c.50108A>G (p.Glu16703Gly)
c.31871A>G (p.Glu10624Gly)
c.21725A>G (p.Glu7242Gly)
2g.178593232T>GCA349500159TTN,TTN-AS1c.51272A>C (p.Glu17091Ala)
c.32357A>C (p.Glu10786Ala)
c.32156A>C (p.Glu10719Ala)
c.31781A>C (p.Glu10594Ala)
c.58976A>C (p.Glu19659Ala)
c.54053A>C (p.Glu18018Ala)
n.597-4364T>G
n.3364+1918T>G
c.58073A>C (p.Glu19358Ala)
c.31967A>C (p.Glu10656Ala)
c.31826A>C (p.Glu10609Ala)
c.57869A>C (p.Glu19290Ala)
c.53267A>C (p.Glu17756Ala)
c.53264A>C (p.Glu17755Ala)
c.50306A>C (p.Glu16769Ala)
c.31922A>C (p.Glu10641Ala)
c.53417A>C (p.Glu17806Ala)
c.53414A>C (p.Glu17805Ala)
c.52847A>C (p.Glu17616Ala)
c.50189A>C (p.Glu16730Ala)
c.50108A>C (p.Glu16703Ala)
c.31871A>C (p.Glu10624Ala)
c.21725A>C (p.Glu7242Ala)
2g.178593233C>ACA349500167TTN,TTN-AS1c.51271G>T (p.Glu17091Ter)
c.32356G>T (p.Glu10786Ter)
c.32155G>T (p.Glu10719Ter)
c.31780G>T (p.Glu10594Ter)
c.58975G>T (p.Glu19659Ter)
c.54052G>T (p.Glu18018Ter)
n.597-4363C>A
n.3364+1919C>A
c.58072G>T (p.Glu19358Ter)
c.31966G>T (p.Glu10656Ter)
c.31825G>T (p.Glu10609Ter)
c.57868G>T (p.Glu19290Ter)
c.53266G>T (p.Glu17756Ter)
c.53263G>T (p.Glu17755Ter)
c.50305G>T (p.Glu16769Ter)
c.31921G>T (p.Glu10641Ter)
c.53416G>T (p.Glu17806Ter)
c.53413G>T (p.Glu17805Ter)
c.52846G>T (p.Glu17616Ter)
c.50188G>T (p.Glu16730Ter)
c.50107G>T (p.Glu16703Ter)
c.31870G>T (p.Glu10624Ter)
c.21724G>T (p.Glu7242Ter)
2g.178593233C=CA1310540444TTN,TTN-AS1c.51271G= (p.Glu17091=)
c.32356G= (p.Glu10786=)
c.32155G= (p.Glu10719=)
c.31780G= (p.Glu10594=)
c.58975G= (p.Glu19659=)
c.54052G= (p.Glu18018=)
n.597-4363C=
n.3364+1919C=
c.58072G= (p.Glu19358=)
c.31966G= (p.Glu10656=)
c.31825G= (p.Glu10609=)
c.57868G= (p.Glu19290=)
c.53266G= (p.Glu17756=)
c.53263G= (p.Glu17755=)
c.50305G= (p.Glu16769=)
c.31921G= (p.Glu10641=)
c.53416G= (p.Glu17806=)
c.53413G= (p.Glu17805=)
c.52846G= (p.Glu17616=)
c.50188G= (p.Glu16730=)
c.50107G= (p.Glu16703=)
c.31870G= (p.Glu10624=)
c.21724G= (p.Glu7242=)
2g.178593233C>GCA349500169TTN,TTN-AS1c.51271G>C (p.Glu17091Gln)
c.32356G>C (p.Glu10786Gln)
c.32155G>C (p.Glu10719Gln)
c.31780G>C (p.Glu10594Gln)
c.58975G>C (p.Glu19659Gln)
c.54052G>C (p.Glu18018Gln)
n.597-4363C>G
n.3364+1919C>G
c.58072G>C (p.Glu19358Gln)
c.31966G>C (p.Glu10656Gln)
c.31825G>C (p.Glu10609Gln)
c.57868G>C (p.Glu19290Gln)
c.53266G>C (p.Glu17756Gln)
c.53263G>C (p.Glu17755Gln)
c.50305G>C (p.Glu16769Gln)
c.31921G>C (p.Glu10641Gln)
c.53416G>C (p.Glu17806Gln)
c.53413G>C (p.Glu17805Gln)
c.52846G>C (p.Glu17616Gln)
c.50188G>C (p.Glu16730Gln)
c.50107G>C (p.Glu16703Gln)
c.31870G>C (p.Glu10624Gln)
c.21724G>C (p.Glu7242Gln)
 gnomAD v4
2g.178593233C>TCA349500173TTN,TTN-AS1c.51271G>A (p.Glu17091Lys)
c.32356G>A (p.Glu10786Lys)
c.32155G>A (p.Glu10719Lys)
c.31780G>A (p.Glu10594Lys)
c.58975G>A (p.Glu19659Lys)
c.54052G>A (p.Glu18018Lys)
n.597-4363C>T
n.3364+1919C>T
c.58072G>A (p.Glu19358Lys)
c.31966G>A (p.Glu10656Lys)
c.31825G>A (p.Glu10609Lys)
c.57868G>A (p.Glu19290Lys)
c.53266G>A (p.Glu17756Lys)
c.53263G>A (p.Glu17755Lys)
c.50305G>A (p.Glu16769Lys)
c.31921G>A (p.Glu10641Lys)
c.53416G>A (p.Glu17806Lys)
c.53413G>A (p.Glu17805Lys)
c.52846G>A (p.Glu17616Lys)
c.50188G>A (p.Glu16730Lys)
c.50107G>A (p.Glu16703Lys)
c.31870G>A (p.Glu10624Lys)
c.21724G>A (p.Glu7242Lys)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178593234A>CCA349500185TTN,TTN-AS1c.51270T>G (p.Asn17090Lys)
c.32355T>G (p.Asn10785Lys)
c.32154T>G (p.Asn10718Lys)
c.31779T>G (p.Asn10593Lys)
c.58974T>G (p.Asn19658Lys)
c.54051T>G (p.Asn18017Lys)
n.597-4362A>C
n.3364+1920A>C
c.58071T>G (p.Asn19357Lys)
c.31965T>G (p.Asn10655Lys)
c.31824T>G (p.Asn10608Lys)
c.57867T>G (p.Asn19289Lys)
c.53265T>G (p.Asn17755Lys)
c.53262T>G (p.Asn17754Lys)
c.50304T>G (p.Asn16768Lys)
c.31920T>G (p.Asn10640Lys)
c.53415T>G (p.Asn17805Lys)
c.53412T>G (p.Asn17804Lys)
c.52845T>G (p.Asn17615Lys)
c.50187T>G (p.Asn16729Lys)
c.50106T>G (p.Asn16702Lys)
c.31869T>G (p.Asn10623Lys)
c.21723T>G (p.Asn7241Lys)
2g.178593234A>GCA430267398TTN,TTN-AS1c.51270T>C (p.Asn17090=)
c.32355T>C (p.Asn10785=)
c.32154T>C (p.Asn10718=)
c.31779T>C (p.Asn10593=)
c.58974T>C (p.Asn19658=)
c.54051T>C (p.Asn18017=)
n.597-4362A>G
n.3364+1920A>G
c.58071T>C (p.Asn19357=)
c.31965T>C (p.Asn10655=)
c.31824T>C (p.Asn10608=)
c.57867T>C (p.Asn19289=)
c.53265T>C (p.Asn17755=)
c.53262T>C (p.Asn17754=)
c.50304T>C (p.Asn16768=)
c.31920T>C (p.Asn10640=)
c.53415T>C (p.Asn17805=)
c.53412T>C (p.Asn17804=)
c.52845T>C (p.Asn17615=)
c.50187T>C (p.Asn16729=)
c.50106T>C (p.Asn16702=)
c.31869T>C (p.Asn10623=)
c.21723T>C (p.Asn7241=)
2g.178593234A>TCA349500188TTN,TTN-AS1c.51270T>A (p.Asn17090Lys)
c.32355T>A (p.Asn10785Lys)
c.32154T>A (p.Asn10718Lys)
c.31779T>A (p.Asn10593Lys)
c.58974T>A (p.Asn19658Lys)
c.54051T>A (p.Asn18017Lys)
n.597-4362A>T
n.3364+1920A>T
c.58071T>A (p.Asn19357Lys)
c.31965T>A (p.Asn10655Lys)
c.31824T>A (p.Asn10608Lys)
c.57867T>A (p.Asn19289Lys)
c.53265T>A (p.Asn17755Lys)
c.53262T>A (p.Asn17754Lys)
c.50304T>A (p.Asn16768Lys)
c.31920T>A (p.Asn10640Lys)
c.53415T>A (p.Asn17805Lys)
c.53412T>A (p.Asn17804Lys)
c.52845T>A (p.Asn17615Lys)
c.50187T>A (p.Asn16729Lys)
c.50106T>A (p.Asn16702Lys)
c.31869T>A (p.Asn10623Lys)
c.21723T>A (p.Asn7241Lys)
2g.178593235T>ACA349500193TTN,TTN-AS1c.51269A>T (p.Asn17090Ile)
c.32354A>T (p.Asn10785Ile)
c.32153A>T (p.Asn10718Ile)
c.31778A>T (p.Asn10593Ile)
c.58973A>T (p.Asn19658Ile)
c.54050A>T (p.Asn18017Ile)
n.597-4361T>A
n.3364+1921T>A
c.58070A>T (p.Asn19357Ile)
c.31964A>T (p.Asn10655Ile)
c.31823A>T (p.Asn10608Ile)
c.57866A>T (p.Asn19289Ile)
c.53264A>T (p.Asn17755Ile)
c.53261A>T (p.Asn17754Ile)
c.50303A>T (p.Asn16768Ile)
c.31919A>T (p.Asn10640Ile)
c.53414A>T (p.Asn17805Ile)
c.53411A>T (p.Asn17804Ile)
c.52844A>T (p.Asn17615Ile)
c.50186A>T (p.Asn16729Ile)
c.50105A>T (p.Asn16702Ile)
c.31868A>T (p.Asn10623Ile)
c.21722A>T (p.Asn7241Ile)
2g.178593235T>CCA1992748TTN,TTN-AS1c.51269A>G (p.Asn17090Ser)
c.32354A>G (p.Asn10785Ser)
c.32153A>G (p.Asn10718Ser)
c.31778A>G (p.Asn10593Ser)
c.58973A>G (p.Asn19658Ser)
c.54050A>G (p.Asn18017Ser)
n.597-4361T>C
n.3364+1921T>C
c.58070A>G (p.Asn19357Ser)
c.31964A>G (p.Asn10655Ser)
c.31823A>G (p.Asn10608Ser)
c.57866A>G (p.Asn19289Ser)
c.53264A>G (p.Asn17755Ser)
c.53261A>G (p.Asn17754Ser)
c.50303A>G (p.Asn16768Ser)
c.31919A>G (p.Asn10640Ser)
c.53414A>G (p.Asn17805Ser)
c.53411A>G (p.Asn17804Ser)
c.52844A>G (p.Asn17615Ser)
c.50186A>G (p.Asn16729Ser)
c.50105A>G (p.Asn16702Ser)
c.31868A>G (p.Asn10623Ser)
c.21722A>G (p.Asn7241Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178593235T>GCA349500192TTN,TTN-AS1c.51269A>C (p.Asn17090Thr)
c.32354A>C (p.Asn10785Thr)
c.32153A>C (p.Asn10718Thr)
c.31778A>C (p.Asn10593Thr)
c.58973A>C (p.Asn19658Thr)
c.54050A>C (p.Asn18017Thr)
n.597-4361T>G
n.3364+1921T>G
c.58070A>C (p.Asn19357Thr)
c.31964A>C (p.Asn10655Thr)
c.31823A>C (p.Asn10608Thr)
c.57866A>C (p.Asn19289Thr)
c.53264A>C (p.Asn17755Thr)
c.53261A>C (p.Asn17754Thr)
c.50303A>C (p.Asn16768Thr)
c.31919A>C (p.Asn10640Thr)
c.53414A>C (p.Asn17805Thr)
c.53411A>C (p.Asn17804Thr)
c.52844A>C (p.Asn17615Thr)
c.50186A>C (p.Asn16729Thr)
c.50105A>C (p.Asn16702Thr)
c.31868A>C (p.Asn10623Thr)
c.21722A>C (p.Asn7241Thr)
2g.178593235T=CA1310540446TTN,TTN-AS1c.51269A= (p.Asn17090=)
c.32354A= (p.Asn10785=)
c.32153A= (p.Asn10718=)
c.31778A= (p.Asn10593=)
c.58973A= (p.Asn19658=)
c.54050A= (p.Asn18017=)
n.597-4361T=
n.3364+1921T=
c.58070A= (p.Asn19357=)
c.31964A= (p.Asn10655=)
c.31823A= (p.Asn10608=)
c.57866A= (p.Asn19289=)
c.53264A= (p.Asn17755=)
c.53261A= (p.Asn17754=)
c.50303A= (p.Asn16768=)
c.31919A= (p.Asn10640=)
c.53414A= (p.Asn17805=)
c.53411A= (p.Asn17804=)
c.52844A= (p.Asn17615=)
c.50186A= (p.Asn16729=)
c.50105A= (p.Asn16702=)
c.31868A= (p.Asn10623=)
c.21722A= (p.Asn7241=)
2g.178593236T>ACA349500194TTN,TTN-AS1c.51268A>T (p.Asn17090Tyr)
c.32353A>T (p.Asn10785Tyr)
c.32152A>T (p.Asn10718Tyr)
c.31777A>T (p.Asn10593Tyr)
c.58972A>T (p.Asn19658Tyr)
c.54049A>T (p.Asn18017Tyr)
n.597-4360T>A
n.3364+1922T>A
c.58069A>T (p.Asn19357Tyr)
c.31963A>T (p.Asn10655Tyr)
c.31822A>T (p.Asn10608Tyr)
c.57865A>T (p.Asn19289Tyr)
c.53263A>T (p.Asn17755Tyr)
c.53260A>T (p.Asn17754Tyr)
c.50302A>T (p.Asn16768Tyr)
c.31918A>T (p.Asn10640Tyr)
c.53413A>T (p.Asn17805Tyr)
c.53410A>T (p.Asn17804Tyr)
c.52843A>T (p.Asn17615Tyr)
c.50185A>T (p.Asn16729Tyr)
c.50104A>T (p.Asn16702Tyr)
c.31867A>T (p.Asn10623Tyr)
c.21721A>T (p.Asn7241Tyr)
2g.178593236T>CCA349500199TTN,TTN-AS1c.51268A>G (p.Asn17090Asp)
c.32353A>G (p.Asn10785Asp)
c.32152A>G (p.Asn10718Asp)
c.31777A>G (p.Asn10593Asp)
c.58972A>G (p.Asn19658Asp)
c.54049A>G (p.Asn18017Asp)
n.597-4360T>C
n.3364+1922T>C
c.58069A>G (p.Asn19357Asp)
c.31963A>G (p.Asn10655Asp)
c.31822A>G (p.Asn10608Asp)
c.57865A>G (p.Asn19289Asp)
c.53263A>G (p.Asn17755Asp)
c.53260A>G (p.Asn17754Asp)
c.50302A>G (p.Asn16768Asp)
c.31918A>G (p.Asn10640Asp)
c.53413A>G (p.Asn17805Asp)
c.53410A>G (p.Asn17804Asp)
c.52843A>G (p.Asn17615Asp)
c.50185A>G (p.Asn16729Asp)
c.50104A>G (p.Asn16702Asp)
c.31867A>G (p.Asn10623Asp)
c.21721A>G (p.Asn7241Asp)
2g.178593236T>GCA349500197TTN,TTN-AS1c.51268A>C (p.Asn17090His)
c.32353A>C (p.Asn10785His)
c.32152A>C (p.Asn10718His)
c.31777A>C (p.Asn10593His)
c.58972A>C (p.Asn19658His)
c.54049A>C (p.Asn18017His)
n.597-4360T>G
n.3364+1922T>G
c.58069A>C (p.Asn19357His)
c.31963A>C (p.Asn10655His)
c.31822A>C (p.Asn10608His)
c.57865A>C (p.Asn19289His)
c.53263A>C (p.Asn17755His)
c.53260A>C (p.Asn17754His)
c.50302A>C (p.Asn16768His)
c.31918A>C (p.Asn10640His)
c.53413A>C (p.Asn17805His)
c.53410A>C (p.Asn17804His)
c.52843A>C (p.Asn17615His)
c.50185A>C (p.Asn16729His)
c.50104A>C (p.Asn16702His)
c.31867A>C (p.Asn10623His)
c.21721A>C (p.Asn7241His)
2g.178593237T>ACA349500202TTN,TTN-AS1c.51267A>T (p.Glu17089Asp)
c.32352A>T (p.Glu10784Asp)
c.32151A>T (p.Glu10717Asp)
c.31776A>T (p.Glu10592Asp)
c.58971A>T (p.Glu19657Asp)
c.54048A>T (p.Glu18016Asp)
n.597-4359T>A
n.3364+1923T>A
c.58068A>T (p.Glu19356Asp)
c.31962A>T (p.Glu10654Asp)
c.31821A>T (p.Glu10607Asp)
c.57864A>T (p.Glu19288Asp)
c.53262A>T (p.Glu17754Asp)
c.53259A>T (p.Glu17753Asp)
c.50301A>T (p.Glu16767Asp)
c.31917A>T (p.Glu10639Asp)
c.53412A>T (p.Glu17804Asp)
c.53409A>T (p.Glu17803Asp)
c.52842A>T (p.Glu17614Asp)
c.50184A>T (p.Glu16728Asp)
c.50103A>T (p.Glu16701Asp)
c.31866A>T (p.Glu10622Asp)
c.21720A>T (p.Glu7240Asp)
2g.178593237T>CCA430267405TTN,TTN-AS1c.51267A>G (p.Glu17089=)
c.32352A>G (p.Glu10784=)
c.32151A>G (p.Glu10717=)
c.31776A>G (p.Glu10592=)
c.58971A>G (p.Glu19657=)
c.54048A>G (p.Glu18016=)
n.597-4359T>C
n.3364+1923T>C
c.58068A>G (p.Glu19356=)
c.31962A>G (p.Glu10654=)
c.31821A>G (p.Glu10607=)
c.57864A>G (p.Glu19288=)
c.53262A>G (p.Glu17754=)
c.53259A>G (p.Glu17753=)
c.50301A>G (p.Glu16767=)
c.31917A>G (p.Glu10639=)
c.53412A>G (p.Glu17804=)
c.53409A>G (p.Glu17803=)
c.52842A>G (p.Glu17614=)
c.50184A>G (p.Glu16728=)
c.50103A>G (p.Glu16701=)
c.31866A>G (p.Glu10622=)
c.21720A>G (p.Glu7240=)
 ClinVar dbSNP
2g.178593237T>GCA1992749TTN,TTN-AS1c.51267A>C (p.Glu17089Asp)
c.32352A>C (p.Glu10784Asp)
c.32151A>C (p.Glu10717Asp)
c.31776A>C (p.Glu10592Asp)
c.58971A>C (p.Glu19657Asp)
c.54048A>C (p.Glu18016Asp)
n.597-4359T>G
n.3364+1923T>G
c.58068A>C (p.Glu19356Asp)
c.31962A>C (p.Glu10654Asp)
c.31821A>C (p.Glu10607Asp)
c.57864A>C (p.Glu19288Asp)
c.53262A>C (p.Glu17754Asp)
c.53259A>C (p.Glu17753Asp)
c.50301A>C (p.Glu16767Asp)
c.31917A>C (p.Glu10639Asp)
c.53412A>C (p.Glu17804Asp)
c.53409A>C (p.Glu17803Asp)
c.52842A>C (p.Glu17614Asp)
c.50184A>C (p.Glu16728Asp)
c.50103A>C (p.Glu16701Asp)
c.31866A>C (p.Glu10622Asp)
c.21720A>C (p.Glu7240Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178593237T=CA1310540448TTN,TTN-AS1c.51267A= (p.Glu17089=)
c.32352A= (p.Glu10784=)
c.32151A= (p.Glu10717=)
c.31776A= (p.Glu10592=)
c.58971A= (p.Glu19657=)
c.54048A= (p.Glu18016=)
n.597-4359T=
n.3364+1923T=
c.58068A= (p.Glu19356=)
c.31962A= (p.Glu10654=)
c.31821A= (p.Glu10607=)
c.57864A= (p.Glu19288=)
c.53262A= (p.Glu17754=)
c.53259A= (p.Glu17753=)
c.50301A= (p.Glu16767=)
c.31917A= (p.Glu10639=)
c.53412A= (p.Glu17804=)
c.53409A= (p.Glu17803=)
c.52842A= (p.Glu17614=)
c.50184A= (p.Glu16728=)
c.50103A= (p.Glu16701=)
c.31866A= (p.Glu10622=)
c.21720A= (p.Glu7240=)

Number of alleles fetched