Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178568730T>ACA349610665TTN,TTN-AS1c.69698A>T (p.Lys23233Ile)
c.50783A>T (p.Lys16928Ile)
c.50582A>T (p.Lys16861Ile)
c.50207A>T (p.Lys16736Ile)
c.77402A>T (p.Lys25801Ile)
c.72479A>T (p.Lys24160Ile)
n.447-2570T>A
n.2044-13842T>A
c.76499A>T (p.Lys25500Ile)
c.50393A>T (p.Lys16798Ile)
c.50252A>T (p.Lys16751Ile)
c.76295A>T (p.Lys25432Ile)
c.71693A>T (p.Lys23898Ile)
c.71690A>T (p.Lys23897Ile)
c.68732A>T (p.Lys22911Ile)
c.50348A>T (p.Lys16783Ile)
c.71843A>T (p.Lys23948Ile)
c.71840A>T (p.Lys23947Ile)
c.71273A>T (p.Lys23758Ile)
c.68615A>T (p.Lys22872Ile)
c.68534A>T (p.Lys22845Ile)
c.50297A>T (p.Lys16766Ile)
c.40151A>T (p.Lys13384Ile)
2g.178568730T>CCA349610666TTN,TTN-AS1c.69698A>G (p.Lys23233Arg)
c.50783A>G (p.Lys16928Arg)
c.50582A>G (p.Lys16861Arg)
c.50207A>G (p.Lys16736Arg)
c.77402A>G (p.Lys25801Arg)
c.72479A>G (p.Lys24160Arg)
n.447-2570T>C
n.2044-13842T>C
c.76499A>G (p.Lys25500Arg)
c.50393A>G (p.Lys16798Arg)
c.50252A>G (p.Lys16751Arg)
c.76295A>G (p.Lys25432Arg)
c.71693A>G (p.Lys23898Arg)
c.71690A>G (p.Lys23897Arg)
c.68732A>G (p.Lys22911Arg)
c.50348A>G (p.Lys16783Arg)
c.71843A>G (p.Lys23948Arg)
c.71840A>G (p.Lys23947Arg)
c.71273A>G (p.Lys23758Arg)
c.68615A>G (p.Lys22872Arg)
c.68534A>G (p.Lys22845Arg)
c.50297A>G (p.Lys16766Arg)
c.40151A>G (p.Lys13384Arg)
2g.178568730T>GCA349610663TTN,TTN-AS1c.69698A>C (p.Lys23233Thr)
c.50783A>C (p.Lys16928Thr)
c.50582A>C (p.Lys16861Thr)
c.50207A>C (p.Lys16736Thr)
c.77402A>C (p.Lys25801Thr)
c.72479A>C (p.Lys24160Thr)
n.447-2570T>G
n.2044-13842T>G
c.76499A>C (p.Lys25500Thr)
c.50393A>C (p.Lys16798Thr)
c.50252A>C (p.Lys16751Thr)
c.76295A>C (p.Lys25432Thr)
c.71693A>C (p.Lys23898Thr)
c.71690A>C (p.Lys23897Thr)
c.68732A>C (p.Lys22911Thr)
c.50348A>C (p.Lys16783Thr)
c.71843A>C (p.Lys23948Thr)
c.71840A>C (p.Lys23947Thr)
c.71273A>C (p.Lys23758Thr)
c.68615A>C (p.Lys22872Thr)
c.68534A>C (p.Lys22845Thr)
c.50297A>C (p.Lys16766Thr)
c.40151A>C (p.Lys13384Thr)
 gnomAD v4
2g.178568731T>ACA349610669TTN,TTN-AS1c.69697A>T (p.Lys23233Ter)
c.50782A>T (p.Lys16928Ter)
c.50581A>T (p.Lys16861Ter)
c.50206A>T (p.Lys16736Ter)
c.77401A>T (p.Lys25801Ter)
c.72478A>T (p.Lys24160Ter)
n.447-2569T>A
n.2044-13841T>A
c.76498A>T (p.Lys25500Ter)
c.50392A>T (p.Lys16798Ter)
c.50251A>T (p.Lys16751Ter)
c.76294A>T (p.Lys25432Ter)
c.71692A>T (p.Lys23898Ter)
c.71689A>T (p.Lys23897Ter)
c.68731A>T (p.Lys22911Ter)
c.50347A>T (p.Lys16783Ter)
c.71842A>T (p.Lys23948Ter)
c.71839A>T (p.Lys23947Ter)
c.71272A>T (p.Lys23758Ter)
c.68614A>T (p.Lys22872Ter)
c.68533A>T (p.Lys22845Ter)
c.50296A>T (p.Lys16766Ter)
c.40150A>T (p.Lys13384Ter)
2g.178568731T>CCA349610670TTN,TTN-AS1c.69697A>G (p.Lys23233Glu)
c.50782A>G (p.Lys16928Glu)
c.50581A>G (p.Lys16861Glu)
c.50206A>G (p.Lys16736Glu)
c.77401A>G (p.Lys25801Glu)
c.72478A>G (p.Lys24160Glu)
n.447-2569T>C
n.2044-13841T>C
c.76498A>G (p.Lys25500Glu)
c.50392A>G (p.Lys16798Glu)
c.50251A>G (p.Lys16751Glu)
c.76294A>G (p.Lys25432Glu)
c.71692A>G (p.Lys23898Glu)
c.71689A>G (p.Lys23897Glu)
c.68731A>G (p.Lys22911Glu)
c.50347A>G (p.Lys16783Glu)
c.71842A>G (p.Lys23948Glu)
c.71839A>G (p.Lys23947Glu)
c.71272A>G (p.Lys23758Glu)
c.68614A>G (p.Lys22872Glu)
c.68533A>G (p.Lys22845Glu)
c.50296A>G (p.Lys16766Glu)
c.40150A>G (p.Lys13384Glu)
 COSMIC COSMIC COSMIC COSMIC
2g.178568731T>GCA349610672TTN,TTN-AS1c.69697A>C (p.Lys23233Gln)
c.50782A>C (p.Lys16928Gln)
c.50581A>C (p.Lys16861Gln)
c.50206A>C (p.Lys16736Gln)
c.77401A>C (p.Lys25801Gln)
c.72478A>C (p.Lys24160Gln)
n.447-2569T>G
n.2044-13841T>G
c.76498A>C (p.Lys25500Gln)
c.50392A>C (p.Lys16798Gln)
c.50251A>C (p.Lys16751Gln)
c.76294A>C (p.Lys25432Gln)
c.71692A>C (p.Lys23898Gln)
c.71689A>C (p.Lys23897Gln)
c.68731A>C (p.Lys22911Gln)
c.50347A>C (p.Lys16783Gln)
c.71842A>C (p.Lys23948Gln)
c.71839A>C (p.Lys23947Gln)
c.71272A>C (p.Lys23758Gln)
c.68614A>C (p.Lys22872Gln)
c.68533A>C (p.Lys22845Gln)
c.50296A>C (p.Lys16766Gln)
c.40150A>C (p.Lys13384Gln)
2g.178568732T>ACA430253413TTN,TTN-AS1c.69696A>T (p.Val23232=)
c.50781A>T (p.Val16927=)
c.50580A>T (p.Val16860=)
c.50205A>T (p.Val16735=)
c.77400A>T (p.Val25800=)
c.72477A>T (p.Val24159=)
n.447-2568T>A
n.2044-13840T>A
c.76497A>T (p.Val25499=)
c.50391A>T (p.Val16797=)
c.50250A>T (p.Val16750=)
c.76293A>T (p.Val25431=)
c.71691A>T (p.Val23897=)
c.71688A>T (p.Val23896=)
c.68730A>T (p.Val22910=)
c.50346A>T (p.Val16782=)
c.71841A>T (p.Val23947=)
c.71838A>T (p.Val23946=)
c.71271A>T (p.Val23757=)
c.68613A>T (p.Val22871=)
c.68532A>T (p.Val22844=)
c.50295A>T (p.Val16765=)
c.40149A>T (p.Val13383=)
2g.178568732T>CCA430253416TTN,TTN-AS1c.69696A>G (p.Val23232=)
c.50781A>G (p.Val16927=)
c.50580A>G (p.Val16860=)
c.50205A>G (p.Val16735=)
c.77400A>G (p.Val25800=)
c.72477A>G (p.Val24159=)
n.447-2568T>C
n.2044-13840T>C
c.76497A>G (p.Val25499=)
c.50391A>G (p.Val16797=)
c.50250A>G (p.Val16750=)
c.76293A>G (p.Val25431=)
c.71691A>G (p.Val23897=)
c.71688A>G (p.Val23896=)
c.68730A>G (p.Val22910=)
c.50346A>G (p.Val16782=)
c.71841A>G (p.Val23947=)
c.71838A>G (p.Val23946=)
c.71271A>G (p.Val23757=)
c.68613A>G (p.Val22871=)
c.68532A>G (p.Val22844=)
c.50295A>G (p.Val16765=)
c.40149A>G (p.Val13383=)
2g.178568732T>GCA430253415TTN,TTN-AS1c.69696A>C (p.Val23232=)
c.50781A>C (p.Val16927=)
c.50580A>C (p.Val16860=)
c.50205A>C (p.Val16735=)
c.77400A>C (p.Val25800=)
c.72477A>C (p.Val24159=)
n.447-2568T>G
n.2044-13840T>G
c.76497A>C (p.Val25499=)
c.50391A>C (p.Val16797=)
c.50250A>C (p.Val16750=)
c.76293A>C (p.Val25431=)
c.71691A>C (p.Val23897=)
c.71688A>C (p.Val23896=)
c.68730A>C (p.Val22910=)
c.50346A>C (p.Val16782=)
c.71841A>C (p.Val23947=)
c.71838A>C (p.Val23946=)
c.71271A>C (p.Val23757=)
c.68613A>C (p.Val22871=)
c.68532A>C (p.Val22844=)
c.50295A>C (p.Val16765=)
c.40149A>C (p.Val13383=)
2g.178568733A>CCA349610675TTN,TTN-AS1c.69695T>G (p.Val23232Gly)
c.50780T>G (p.Val16927Gly)
c.50579T>G (p.Val16860Gly)
c.50204T>G (p.Val16735Gly)
c.77399T>G (p.Val25800Gly)
c.72476T>G (p.Val24159Gly)
n.447-2567A>C
n.2044-13839A>C
c.76496T>G (p.Val25499Gly)
c.50390T>G (p.Val16797Gly)
c.50249T>G (p.Val16750Gly)
c.76292T>G (p.Val25431Gly)
c.71690T>G (p.Val23897Gly)
c.71687T>G (p.Val23896Gly)
c.68729T>G (p.Val22910Gly)
c.50345T>G (p.Val16782Gly)
c.71840T>G (p.Val23947Gly)
c.71837T>G (p.Val23946Gly)
c.71270T>G (p.Val23757Gly)
c.68612T>G (p.Val22871Gly)
c.68531T>G (p.Val22844Gly)
c.50294T>G (p.Val16765Gly)
c.40148T>G (p.Val13383Gly)
2g.178568733A>GCA349610676TTN,TTN-AS1c.69695T>C (p.Val23232Ala)
c.50780T>C (p.Val16927Ala)
c.50579T>C (p.Val16860Ala)
c.50204T>C (p.Val16735Ala)
c.77399T>C (p.Val25800Ala)
c.72476T>C (p.Val24159Ala)
n.447-2567A>G
n.2044-13839A>G
c.76496T>C (p.Val25499Ala)
c.50390T>C (p.Val16797Ala)
c.50249T>C (p.Val16750Ala)
c.76292T>C (p.Val25431Ala)
c.71690T>C (p.Val23897Ala)
c.71687T>C (p.Val23896Ala)
c.68729T>C (p.Val22910Ala)
c.50345T>C (p.Val16782Ala)
c.71840T>C (p.Val23947Ala)
c.71837T>C (p.Val23946Ala)
c.71270T>C (p.Val23757Ala)
c.68612T>C (p.Val22871Ala)
c.68531T>C (p.Val22844Ala)
c.50294T>C (p.Val16765Ala)
c.40148T>C (p.Val13383Ala)
 gnomAD v4
2g.178568733A>TCA349610679TTN,TTN-AS1c.69695T>A (p.Val23232Glu)
c.50780T>A (p.Val16927Glu)
c.50579T>A (p.Val16860Glu)
c.50204T>A (p.Val16735Glu)
c.77399T>A (p.Val25800Glu)
c.72476T>A (p.Val24159Glu)
n.447-2567A>T
n.2044-13839A>T
c.76496T>A (p.Val25499Glu)
c.50390T>A (p.Val16797Glu)
c.50249T>A (p.Val16750Glu)
c.76292T>A (p.Val25431Glu)
c.71690T>A (p.Val23897Glu)
c.71687T>A (p.Val23896Glu)
c.68729T>A (p.Val22910Glu)
c.50345T>A (p.Val16782Glu)
c.71840T>A (p.Val23947Glu)
c.71837T>A (p.Val23946Glu)
c.71270T>A (p.Val23757Glu)
c.68612T>A (p.Val22871Glu)
c.68531T>A (p.Val22844Glu)
c.50294T>A (p.Val16765Glu)
c.40148T>A (p.Val13383Glu)
2g.178568734C>ACA349610681TTN,TTN-AS1c.69694G>T (p.Val23232Leu)
c.50779G>T (p.Val16927Leu)
c.50578G>T (p.Val16860Leu)
c.50203G>T (p.Val16735Leu)
c.77398G>T (p.Val25800Leu)
c.72475G>T (p.Val24159Leu)
n.447-2566C>A
n.2044-13838C>A
c.76495G>T (p.Val25499Leu)
c.50389G>T (p.Val16797Leu)
c.50248G>T (p.Val16750Leu)
c.76291G>T (p.Val25431Leu)
c.71689G>T (p.Val23897Leu)
c.71686G>T (p.Val23896Leu)
c.68728G>T (p.Val22910Leu)
c.50344G>T (p.Val16782Leu)
c.71839G>T (p.Val23947Leu)
c.71836G>T (p.Val23946Leu)
c.71269G>T (p.Val23757Leu)
c.68611G>T (p.Val22871Leu)
c.68530G>T (p.Val22844Leu)
c.50293G>T (p.Val16765Leu)
c.40147G>T (p.Val13383Leu)
2g.178568734C>GCA349610686TTN,TTN-AS1c.69694G>C (p.Val23232Leu)
c.50779G>C (p.Val16927Leu)
c.50578G>C (p.Val16860Leu)
c.50203G>C (p.Val16735Leu)
c.77398G>C (p.Val25800Leu)
c.72475G>C (p.Val24159Leu)
n.447-2566C>G
n.2044-13838C>G
c.76495G>C (p.Val25499Leu)
c.50389G>C (p.Val16797Leu)
c.50248G>C (p.Val16750Leu)
c.76291G>C (p.Val25431Leu)
c.71689G>C (p.Val23897Leu)
c.71686G>C (p.Val23896Leu)
c.68728G>C (p.Val22910Leu)
c.50344G>C (p.Val16782Leu)
c.71839G>C (p.Val23947Leu)
c.71836G>C (p.Val23946Leu)
c.71269G>C (p.Val23757Leu)
c.68611G>C (p.Val22871Leu)
c.68530G>C (p.Val22844Leu)
c.50293G>C (p.Val16765Leu)
c.40147G>C (p.Val13383Leu)
2g.178568734C>TCA349610683TTN,TTN-AS1c.69694G>A (p.Val23232Ile)
c.50779G>A (p.Val16927Ile)
c.50578G>A (p.Val16860Ile)
c.50203G>A (p.Val16735Ile)
c.77398G>A (p.Val25800Ile)
c.72475G>A (p.Val24159Ile)
n.447-2566C>T
n.2044-13838C>T
c.76495G>A (p.Val25499Ile)
c.50389G>A (p.Val16797Ile)
c.50248G>A (p.Val16750Ile)
c.76291G>A (p.Val25431Ile)
c.71689G>A (p.Val23897Ile)
c.71686G>A (p.Val23896Ile)
c.68728G>A (p.Val22910Ile)
c.50344G>A (p.Val16782Ile)
c.71839G>A (p.Val23947Ile)
c.71836G>A (p.Val23946Ile)
c.71269G>A (p.Val23757Ile)
c.68611G>A (p.Val22871Ile)
c.68530G>A (p.Val22844Ile)
c.50293G>A (p.Val16765Ile)
c.40147G>A (p.Val13383Ile)
2g.178568735A>CCA349610688TTN,TTN-AS1c.69693T>G (p.Asp23231Glu)
c.50778T>G (p.Asp16926Glu)
c.50577T>G (p.Asp16859Glu)
c.50202T>G (p.Asp16734Glu)
c.77397T>G (p.Asp25799Glu)
c.72474T>G (p.Asp24158Glu)
n.447-2565A>C
n.2044-13837A>C
c.76494T>G (p.Asp25498Glu)
c.50388T>G (p.Asp16796Glu)
c.50247T>G (p.Asp16749Glu)
c.76290T>G (p.Asp25430Glu)
c.71688T>G (p.Asp23896Glu)
c.71685T>G (p.Asp23895Glu)
c.68727T>G (p.Asp22909Glu)
c.50343T>G (p.Asp16781Glu)
c.71838T>G (p.Asp23946Glu)
c.71835T>G (p.Asp23945Glu)
c.71268T>G (p.Asp23756Glu)
c.68610T>G (p.Asp22870Glu)
c.68529T>G (p.Asp22843Glu)
c.50292T>G (p.Asp16764Glu)
c.40146T>G (p.Asp13382Glu)
2g.178568735A>GCA430253423TTN,TTN-AS1c.69693T>C (p.Asp23231=)
c.50778T>C (p.Asp16926=)
c.50577T>C (p.Asp16859=)
c.50202T>C (p.Asp16734=)
c.77397T>C (p.Asp25799=)
c.72474T>C (p.Asp24158=)
n.447-2565A>G
n.2044-13837A>G
c.76494T>C (p.Asp25498=)
c.50388T>C (p.Asp16796=)
c.50247T>C (p.Asp16749=)
c.76290T>C (p.Asp25430=)
c.71688T>C (p.Asp23896=)
c.71685T>C (p.Asp23895=)
c.68727T>C (p.Asp22909=)
c.50343T>C (p.Asp16781=)
c.71838T>C (p.Asp23946=)
c.71835T>C (p.Asp23945=)
c.71268T>C (p.Asp23756=)
c.68610T>C (p.Asp22870=)
c.68529T>C (p.Asp22843=)
c.50292T>C (p.Asp16764=)
c.40146T>C (p.Asp13382=)
 ClinVar dbSNP
2g.178568735A>TCA349610690TTN,TTN-AS1c.69693T>A (p.Asp23231Glu)
c.50778T>A (p.Asp16926Glu)
c.50577T>A (p.Asp16859Glu)
c.50202T>A (p.Asp16734Glu)
c.77397T>A (p.Asp25799Glu)
c.72474T>A (p.Asp24158Glu)
n.447-2565A>T
n.2044-13837A>T
c.76494T>A (p.Asp25498Glu)
c.50388T>A (p.Asp16796Glu)
c.50247T>A (p.Asp16749Glu)
c.76290T>A (p.Asp25430Glu)
c.71688T>A (p.Asp23896Glu)
c.71685T>A (p.Asp23895Glu)
c.68727T>A (p.Asp22909Glu)
c.50343T>A (p.Asp16781Glu)
c.71838T>A (p.Asp23946Glu)
c.71835T>A (p.Asp23945Glu)
c.71268T>A (p.Asp23756Glu)
c.68610T>A (p.Asp22870Glu)
c.68529T>A (p.Asp22843Glu)
c.50292T>A (p.Asp16764Glu)
c.40146T>A (p.Asp13382Glu)
2g.178568736T>ACA349610692TTN,TTN-AS1c.69692A>T (p.Asp23231Val)
c.50777A>T (p.Asp16926Val)
c.50576A>T (p.Asp16859Val)
c.50201A>T (p.Asp16734Val)
c.77396A>T (p.Asp25799Val)
c.72473A>T (p.Asp24158Val)
n.447-2564T>A
n.2044-13836T>A
c.76493A>T (p.Asp25498Val)
c.50387A>T (p.Asp16796Val)
c.50246A>T (p.Asp16749Val)
c.76289A>T (p.Asp25430Val)
c.71687A>T (p.Asp23896Val)
c.71684A>T (p.Asp23895Val)
c.68726A>T (p.Asp22909Val)
c.50342A>T (p.Asp16781Val)
c.71837A>T (p.Asp23946Val)
c.71834A>T (p.Asp23945Val)
c.71267A>T (p.Asp23756Val)
c.68609A>T (p.Asp22870Val)
c.68528A>T (p.Asp22843Val)
c.50291A>T (p.Asp16764Val)
c.40145A>T (p.Asp13382Val)
2g.178568736T>CCA349610694TTN,TTN-AS1c.69692A>G (p.Asp23231Gly)
c.50777A>G (p.Asp16926Gly)
c.50576A>G (p.Asp16859Gly)
c.50201A>G (p.Asp16734Gly)
c.77396A>G (p.Asp25799Gly)
c.72473A>G (p.Asp24158Gly)
n.447-2564T>C
n.2044-13836T>C
c.76493A>G (p.Asp25498Gly)
c.50387A>G (p.Asp16796Gly)
c.50246A>G (p.Asp16749Gly)
c.76289A>G (p.Asp25430Gly)
c.71687A>G (p.Asp23896Gly)
c.71684A>G (p.Asp23895Gly)
c.68726A>G (p.Asp22909Gly)
c.50342A>G (p.Asp16781Gly)
c.71837A>G (p.Asp23946Gly)
c.71834A>G (p.Asp23945Gly)
c.71267A>G (p.Asp23756Gly)
c.68609A>G (p.Asp22870Gly)
c.68528A>G (p.Asp22843Gly)
c.50291A>G (p.Asp16764Gly)
c.40145A>G (p.Asp13382Gly)
2g.178568736T>GCA349610696TTN,TTN-AS1c.69692A>C (p.Asp23231Ala)
c.50777A>C (p.Asp16926Ala)
c.50576A>C (p.Asp16859Ala)
c.50201A>C (p.Asp16734Ala)
c.77396A>C (p.Asp25799Ala)
c.72473A>C (p.Asp24158Ala)
n.447-2564T>G
n.2044-13836T>G
c.76493A>C (p.Asp25498Ala)
c.50387A>C (p.Asp16796Ala)
c.50246A>C (p.Asp16749Ala)
c.76289A>C (p.Asp25430Ala)
c.71687A>C (p.Asp23896Ala)
c.71684A>C (p.Asp23895Ala)
c.68726A>C (p.Asp22909Ala)
c.50342A>C (p.Asp16781Ala)
c.71837A>C (p.Asp23946Ala)
c.71834A>C (p.Asp23945Ala)
c.71267A>C (p.Asp23756Ala)
c.68609A>C (p.Asp22870Ala)
c.68528A>C (p.Asp22843Ala)
c.50291A>C (p.Asp16764Ala)
c.40145A>C (p.Asp13382Ala)
2g.178568737_178568738delCA2586965263TTN,TTN-AS1c.69691_69692del (p.Asp23231CysfsTer7)
c.50776_50777del (p.Asp16926CysfsTer7)
c.50575_50576del (p.Asp16859CysfsTer7)
c.50200_50201del (p.Asp16734CysfsTer7)
c.77395_77396del (p.Asp25799CysfsTer7)
c.72472_72473del (p.Asp24158CysfsTer7)
n.447-2563_447-2562del
n.2044-13835_2044-13834del
c.76492_76493del (p.Asp25498CysfsTer7)
c.50386_50387del (p.Asp16796CysfsTer7)
c.50245_50246del (p.Asp16749CysfsTer7)
c.76288_76289del (p.Asp25430CysfsTer7)
c.71686_71687del (p.Asp23896CysfsTer7)
c.71683_71684del (p.Asp23895CysfsTer7)
c.68725_68726del (p.Asp22909CysfsTer7)
c.50341_50342del (p.Asp16781CysfsTer7)
c.71836_71837del (p.Asp23946CysfsTer7)
c.71833_71834del (p.Asp23945CysfsTer7)
c.71266_71267del (p.Asp23756CysfsTer7)
c.68608_68609del (p.Asp22870CysfsTer7)
c.68527_68528del (p.Asp22843CysfsTer7)
c.50290_50291del (p.Asp16764CysfsTer7)
c.40144_40145del (p.Asp13382CysfsTer7)
2g.178568737C>ACA349610703TTN,TTN-AS1c.69691G>T (p.Asp23231Tyr)
c.50776G>T (p.Asp16926Tyr)
c.50575G>T (p.Asp16859Tyr)
c.50200G>T (p.Asp16734Tyr)
c.77395G>T (p.Asp25799Tyr)
c.72472G>T (p.Asp24158Tyr)
n.447-2563C>A
n.2044-13835C>A
c.76492G>T (p.Asp25498Tyr)
c.50386G>T (p.Asp16796Tyr)
c.50245G>T (p.Asp16749Tyr)
c.76288G>T (p.Asp25430Tyr)
c.71686G>T (p.Asp23896Tyr)
c.71683G>T (p.Asp23895Tyr)
c.68725G>T (p.Asp22909Tyr)
c.50341G>T (p.Asp16781Tyr)
c.71836G>T (p.Asp23946Tyr)
c.71833G>T (p.Asp23945Tyr)
c.71266G>T (p.Asp23756Tyr)
c.68608G>T (p.Asp22870Tyr)
c.68527G>T (p.Asp22843Tyr)
c.50290G>T (p.Asp16764Tyr)
c.40144G>T (p.Asp13382Tyr)
2g.178568737C=CA1310530651TTN,TTN-AS1c.69691G= (p.Asp23231=)
c.50776G= (p.Asp16926=)
c.50575G= (p.Asp16859=)
c.50200G= (p.Asp16734=)
c.77395G= (p.Asp25799=)
c.72472G= (p.Asp24158=)
n.447-2563C=
n.2044-13835C=
c.76492G= (p.Asp25498=)
c.50386G= (p.Asp16796=)
c.50245G= (p.Asp16749=)
c.76288G= (p.Asp25430=)
c.71686G= (p.Asp23896=)
c.71683G= (p.Asp23895=)
c.68725G= (p.Asp22909=)
c.50341G= (p.Asp16781=)
c.71836G= (p.Asp23946=)
c.71833G= (p.Asp23945=)
c.71266G= (p.Asp23756=)
c.68608G= (p.Asp22870=)
c.68527G= (p.Asp22843=)
c.50290G= (p.Asp16764=)
c.40144G= (p.Asp13382=)
2g.178568737C>GCA349610701TTN,TTN-AS1c.69691G>C (p.Asp23231His)
c.50776G>C (p.Asp16926His)
c.50575G>C (p.Asp16859His)
c.50200G>C (p.Asp16734His)
c.77395G>C (p.Asp25799His)
c.72472G>C (p.Asp24158His)
n.447-2563C>G
n.2044-13835C>G
c.76492G>C (p.Asp25498His)
c.50386G>C (p.Asp16796His)
c.50245G>C (p.Asp16749His)
c.76288G>C (p.Asp25430His)
c.71686G>C (p.Asp23896His)
c.71683G>C (p.Asp23895His)
c.68725G>C (p.Asp22909His)
c.50341G>C (p.Asp16781His)
c.71836G>C (p.Asp23946His)
c.71833G>C (p.Asp23945His)
c.71266G>C (p.Asp23756His)
c.68608G>C (p.Asp22870His)
c.68527G>C (p.Asp22843His)
c.50290G>C (p.Asp16764His)
c.40144G>C (p.Asp13382His)
2g.178568737C>TCA349610698TTN,TTN-AS1c.69691G>A (p.Asp23231Asn)
c.50776G>A (p.Asp16926Asn)
c.50575G>A (p.Asp16859Asn)
c.50200G>A (p.Asp16734Asn)
c.77395G>A (p.Asp25799Asn)
c.72472G>A (p.Asp24158Asn)
n.447-2563C>T
n.2044-13835C>T
c.76492G>A (p.Asp25498Asn)
c.50386G>A (p.Asp16796Asn)
c.50245G>A (p.Asp16749Asn)
c.76288G>A (p.Asp25430Asn)
c.71686G>A (p.Asp23896Asn)
c.71683G>A (p.Asp23895Asn)
c.68725G>A (p.Asp22909Asn)
c.50341G>A (p.Asp16781Asn)
c.71836G>A (p.Asp23946Asn)
c.71833G>A (p.Asp23945Asn)
c.71266G>A (p.Asp23756Asn)
c.68608G>A (p.Asp22870Asn)
c.68527G>A (p.Asp22843Asn)
c.50290G>A (p.Asp16764Asn)
c.40144G>A (p.Asp13382Asn)
2g.178568738T>ACA430253425TTN,TTN-AS1c.69690A>T (p.Pro23230=)
c.50775A>T (p.Pro16925=)
c.50574A>T (p.Pro16858=)
c.50199A>T (p.Pro16733=)
c.77394A>T (p.Pro25798=)
c.72471A>T (p.Pro24157=)
n.447-2562T>A
n.2044-13834T>A
c.76491A>T (p.Pro25497=)
c.50385A>T (p.Pro16795=)
c.50244A>T (p.Pro16748=)
c.76287A>T (p.Pro25429=)
c.71685A>T (p.Pro23895=)
c.71682A>T (p.Pro23894=)
c.68724A>T (p.Pro22908=)
c.50340A>T (p.Pro16780=)
c.71835A>T (p.Pro23945=)
c.71832A>T (p.Pro23944=)
c.71265A>T (p.Pro23755=)
c.68607A>T (p.Pro22869=)
c.68526A>T (p.Pro22842=)
c.50289A>T (p.Pro16763=)
c.40143A>T (p.Pro13381=)
2g.178568738T>CCA430253428TTN,TTN-AS1c.69690A>G (p.Pro23230=)
c.50775A>G (p.Pro16925=)
c.50574A>G (p.Pro16858=)
c.50199A>G (p.Pro16733=)
c.77394A>G (p.Pro25798=)
c.72471A>G (p.Pro24157=)
n.447-2562T>C
n.2044-13834T>C
c.76491A>G (p.Pro25497=)
c.50385A>G (p.Pro16795=)
c.50244A>G (p.Pro16748=)
c.76287A>G (p.Pro25429=)
c.71685A>G (p.Pro23895=)
c.71682A>G (p.Pro23894=)
c.68724A>G (p.Pro22908=)
c.50340A>G (p.Pro16780=)
c.71835A>G (p.Pro23945=)
c.71832A>G (p.Pro23944=)
c.71265A>G (p.Pro23755=)
c.68607A>G (p.Pro22869=)
c.68526A>G (p.Pro22842=)
c.50289A>G (p.Pro16763=)
c.40143A>G (p.Pro13381=)
2g.178568738T>GCA430253431TTN,TTN-AS1c.69690A>C (p.Pro23230=)
c.50775A>C (p.Pro16925=)
c.50574A>C (p.Pro16858=)
c.50199A>C (p.Pro16733=)
c.77394A>C (p.Pro25798=)
c.72471A>C (p.Pro24157=)
n.447-2562T>G
n.2044-13834T>G
c.76491A>C (p.Pro25497=)
c.50385A>C (p.Pro16795=)
c.50244A>C (p.Pro16748=)
c.76287A>C (p.Pro25429=)
c.71685A>C (p.Pro23895=)
c.71682A>C (p.Pro23894=)
c.68724A>C (p.Pro22908=)
c.50340A>C (p.Pro16780=)
c.71835A>C (p.Pro23945=)
c.71832A>C (p.Pro23944=)
c.71265A>C (p.Pro23755=)
c.68607A>C (p.Pro22869=)
c.68526A>C (p.Pro22842=)
c.50289A>C (p.Pro16763=)
c.40143A>C (p.Pro13381=)
2g.178568739_178568740insATTTCATTTCTTTTAACCATTATTGGTTCTGGGGTTCCTGGTGCA1989782TTN,TTN-AS1c.69690_69691insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (p.Asp23231ProfsTer22)
c.50775_50776insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (p.Asp16926ProfsTer22)
c.50574_50575insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (p.Asp16859ProfsTer22)
c.50199_50200insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (p.Asp16734ProfsTer22)
c.77394_77395insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (p.Asp25799ProfsTer22)
c.72471_72472insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (p.Asp24158ProfsTer22)
n.447-2561_447-2560insATTTCATTTCTTTTAACCATTATTGGTTCTGGGGTTCCTGGTG
n.2044-13833_2044-13832insATTTCATTTCTTTTAACCATTATTGGTTCTGGGGTTCCTGGTG
c.76491_76492insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (p.Asp25498ProfsTer22)
c.50385_50386insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (p.Asp16796ProfsTer22)
c.50244_50245insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (p.Asp16749ProfsTer22)
c.76287_76288insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (p.Asp25430ProfsTer22)
c.71685_71686insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (p.Asp23896ProfsTer22)
c.71682_71683insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (p.Asp23895ProfsTer22)
c.68724_68725insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (p.Asp22909ProfsTer22)
c.50340_50341insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (p.Asp16781ProfsTer22)
c.71835_71836insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (p.Asp23946ProfsTer22)
c.71832_71833insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (p.Asp23945ProfsTer22)
c.71265_71266insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (p.Asp23756ProfsTer22)
c.68607_68608insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (p.Asp22870ProfsTer22)
c.68526_68527insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (p.Asp22843ProfsTer22)
c.50289_50290insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (p.Asp16764ProfsTer22)
c.40143_40144insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (p.Asp13382ProfsTer22)
 dbSNP ExAC
2g.178568739G>ACA349610707TTN,TTN-AS1c.69689C>T (p.Pro23230Leu)
c.50774C>T (p.Pro16925Leu)
c.50573C>T (p.Pro16858Leu)
c.50198C>T (p.Pro16733Leu)
c.77393C>T (p.Pro25798Leu)
c.72470C>T (p.Pro24157Leu)
n.447-2561G>A
n.2044-13833G>A
c.76490C>T (p.Pro25497Leu)
c.50384C>T (p.Pro16795Leu)
c.50243C>T (p.Pro16748Leu)
c.76286C>T (p.Pro25429Leu)
c.71684C>T (p.Pro23895Leu)
c.71681C>T (p.Pro23894Leu)
c.68723C>T (p.Pro22908Leu)
c.50339C>T (p.Pro16780Leu)
c.71834C>T (p.Pro23945Leu)
c.71831C>T (p.Pro23944Leu)
c.71264C>T (p.Pro23755Leu)
c.68606C>T (p.Pro22869Leu)
c.68525C>T (p.Pro22842Leu)
c.50288C>T (p.Pro16763Leu)
c.40142C>T (p.Pro13381Leu)
2g.178568739G>CCA349610711TTN,TTN-AS1c.69689C>G (p.Pro23230Arg)
c.50774C>G (p.Pro16925Arg)
c.50573C>G (p.Pro16858Arg)
c.50198C>G (p.Pro16733Arg)
c.77393C>G (p.Pro25798Arg)
c.72470C>G (p.Pro24157Arg)
n.447-2561G>C
n.2044-13833G>C
c.76490C>G (p.Pro25497Arg)
c.50384C>G (p.Pro16795Arg)
c.50243C>G (p.Pro16748Arg)
c.76286C>G (p.Pro25429Arg)
c.71684C>G (p.Pro23895Arg)
c.71681C>G (p.Pro23894Arg)
c.68723C>G (p.Pro22908Arg)
c.50339C>G (p.Pro16780Arg)
c.71834C>G (p.Pro23945Arg)
c.71831C>G (p.Pro23944Arg)
c.71264C>G (p.Pro23755Arg)
c.68606C>G (p.Pro22869Arg)
c.68525C>G (p.Pro22842Arg)
c.50288C>G (p.Pro16763Arg)
c.40142C>G (p.Pro13381Arg)
2g.178568739G>TCA349610709TTN,TTN-AS1c.69689C>A (p.Pro23230Gln)
c.50774C>A (p.Pro16925Gln)
c.50573C>A (p.Pro16858Gln)
c.50198C>A (p.Pro16733Gln)
c.77393C>A (p.Pro25798Gln)
c.72470C>A (p.Pro24157Gln)
n.447-2561G>T
n.2044-13833G>T
c.76490C>A (p.Pro25497Gln)
c.50384C>A (p.Pro16795Gln)
c.50243C>A (p.Pro16748Gln)
c.76286C>A (p.Pro25429Gln)
c.71684C>A (p.Pro23895Gln)
c.71681C>A (p.Pro23894Gln)
c.68723C>A (p.Pro22908Gln)
c.50339C>A (p.Pro16780Gln)
c.71834C>A (p.Pro23945Gln)
c.71831C>A (p.Pro23944Gln)
c.71264C>A (p.Pro23755Gln)
c.68606C>A (p.Pro22869Gln)
c.68525C>A (p.Pro22842Gln)
c.50288C>A (p.Pro16763Gln)
c.40142C>A (p.Pro13381Gln)
2g.178568740G>ACA349610713TTN,TTN-AS1c.69688C>T (p.Pro23230Ser)
c.50773C>T (p.Pro16925Ser)
c.50572C>T (p.Pro16858Ser)
c.50197C>T (p.Pro16733Ser)
c.77392C>T (p.Pro25798Ser)
c.72469C>T (p.Pro24157Ser)
n.447-2560G>A
n.2044-13832G>A
c.76489C>T (p.Pro25497Ser)
c.50383C>T (p.Pro16795Ser)
c.50242C>T (p.Pro16748Ser)
c.76285C>T (p.Pro25429Ser)
c.71683C>T (p.Pro23895Ser)
c.71680C>T (p.Pro23894Ser)
c.68722C>T (p.Pro22908Ser)
c.50338C>T (p.Pro16780Ser)
c.71833C>T (p.Pro23945Ser)
c.71830C>T (p.Pro23944Ser)
c.71263C>T (p.Pro23755Ser)
c.68605C>T (p.Pro22869Ser)
c.68524C>T (p.Pro22842Ser)
c.50287C>T (p.Pro16763Ser)
c.40141C>T (p.Pro13381Ser)
 COSMIC COSMIC COSMIC COSMIC
2g.178568740G>CCA349610717TTN,TTN-AS1c.69688C>G (p.Pro23230Ala)
c.50773C>G (p.Pro16925Ala)
c.50572C>G (p.Pro16858Ala)
c.50197C>G (p.Pro16733Ala)
c.77392C>G (p.Pro25798Ala)
c.72469C>G (p.Pro24157Ala)
n.447-2560G>C
n.2044-13832G>C
c.76489C>G (p.Pro25497Ala)
c.50383C>G (p.Pro16795Ala)
c.50242C>G (p.Pro16748Ala)
c.76285C>G (p.Pro25429Ala)
c.71683C>G (p.Pro23895Ala)
c.71680C>G (p.Pro23894Ala)
c.68722C>G (p.Pro22908Ala)
c.50338C>G (p.Pro16780Ala)
c.71833C>G (p.Pro23945Ala)
c.71830C>G (p.Pro23944Ala)
c.71263C>G (p.Pro23755Ala)
c.68605C>G (p.Pro22869Ala)
c.68524C>G (p.Pro22842Ala)
c.50287C>G (p.Pro16763Ala)
c.40141C>G (p.Pro13381Ala)
2g.178568740G=CA1310530654TTN,TTN-AS1c.69688C= (p.Pro23230=)
c.50773C= (p.Pro16925=)
c.50572C= (p.Pro16858=)
c.50197C= (p.Pro16733=)
c.77392C= (p.Pro25798=)
c.72469C= (p.Pro24157=)
n.447-2560G=
n.2044-13832G=
c.76489C= (p.Pro25497=)
c.50383C= (p.Pro16795=)
c.50242C= (p.Pro16748=)
c.76285C= (p.Pro25429=)
c.71683C= (p.Pro23895=)
c.71680C= (p.Pro23894=)
c.68722C= (p.Pro22908=)
c.50338C= (p.Pro16780=)
c.71833C= (p.Pro23945=)
c.71830C= (p.Pro23944=)
c.71263C= (p.Pro23755=)
c.68605C= (p.Pro22869=)
c.68524C= (p.Pro22842=)
c.50287C= (p.Pro16763=)
c.40141C= (p.Pro13381=)
2g.178568740G>TCA349610715TTN,TTN-AS1c.69688C>A (p.Pro23230Thr)
c.50773C>A (p.Pro16925Thr)
c.50572C>A (p.Pro16858Thr)
c.50197C>A (p.Pro16733Thr)
c.77392C>A (p.Pro25798Thr)
c.72469C>A (p.Pro24157Thr)
n.447-2560G>T
n.2044-13832G>T
c.76489C>A (p.Pro25497Thr)
c.50383C>A (p.Pro16795Thr)
c.50242C>A (p.Pro16748Thr)
c.76285C>A (p.Pro25429Thr)
c.71683C>A (p.Pro23895Thr)
c.71680C>A (p.Pro23894Thr)
c.68722C>A (p.Pro22908Thr)
c.50338C>A (p.Pro16780Thr)
c.71833C>A (p.Pro23945Thr)
c.71830C>A (p.Pro23944Thr)
c.71263C>A (p.Pro23755Thr)
c.68605C>A (p.Pro22869Thr)
c.68524C>A (p.Pro22842Thr)
c.50287C>A (p.Pro16763Thr)
c.40141C>A (p.Pro13381Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.178568741C>ACA349610719TTN,TTN-AS1c.69687G>T (p.Glu23229Asp)
c.50772G>T (p.Glu16924Asp)
c.50571G>T (p.Glu16857Asp)
c.50196G>T (p.Glu16732Asp)
c.77391G>T (p.Glu25797Asp)
c.72468G>T (p.Glu24156Asp)
n.447-2559C>A
n.2044-13831C>A
c.76488G>T (p.Glu25496Asp)
c.50382G>T (p.Glu16794Asp)
c.50241G>T (p.Glu16747Asp)
c.76284G>T (p.Glu25428Asp)
c.71682G>T (p.Glu23894Asp)
c.71679G>T (p.Glu23893Asp)
c.68721G>T (p.Glu22907Asp)
c.50337G>T (p.Glu16779Asp)
c.71832G>T (p.Glu23944Asp)
c.71829G>T (p.Glu23943Asp)
c.71262G>T (p.Glu23754Asp)
c.68604G>T (p.Glu22868Asp)
c.68523G>T (p.Glu22841Asp)
c.50286G>T (p.Glu16762Asp)
c.40140G>T (p.Glu13380Asp)
2g.178568741C=CA1310530656TTN,TTN-AS1c.69687G= (p.Glu23229=)
c.50772G= (p.Glu16924=)
c.50571G= (p.Glu16857=)
c.50196G= (p.Glu16732=)
c.77391G= (p.Glu25797=)
c.72468G= (p.Glu24156=)
n.447-2559C=
n.2044-13831C=
c.76488G= (p.Glu25496=)
c.50382G= (p.Glu16794=)
c.50241G= (p.Glu16747=)
c.76284G= (p.Glu25428=)
c.71682G= (p.Glu23894=)
c.71679G= (p.Glu23893=)
c.68721G= (p.Glu22907=)
c.50337G= (p.Glu16779=)
c.71832G= (p.Glu23944=)
c.71829G= (p.Glu23943=)
c.71262G= (p.Glu23754=)
c.68604G= (p.Glu22868=)
c.68523G= (p.Glu22841=)
c.50286G= (p.Glu16762=)
c.40140G= (p.Glu13380=)
2g.178568741C>GCA1989783TTN,TTN-AS1c.69687G>C (p.Glu23229Asp)
c.50772G>C (p.Glu16924Asp)
c.50571G>C (p.Glu16857Asp)
c.50196G>C (p.Glu16732Asp)
c.77391G>C (p.Glu25797Asp)
c.72468G>C (p.Glu24156Asp)
n.447-2559C>G
n.2044-13831C>G
c.76488G>C (p.Glu25496Asp)
c.50382G>C (p.Glu16794Asp)
c.50241G>C (p.Glu16747Asp)
c.76284G>C (p.Glu25428Asp)
c.71682G>C (p.Glu23894Asp)
c.71679G>C (p.Glu23893Asp)
c.68721G>C (p.Glu22907Asp)
c.50337G>C (p.Glu16779Asp)
c.71832G>C (p.Glu23944Asp)
c.71829G>C (p.Glu23943Asp)
c.71262G>C (p.Glu23754Asp)
c.68604G>C (p.Glu22868Asp)
c.68523G>C (p.Glu22841Asp)
c.50286G>C (p.Glu16762Asp)
c.40140G>C (p.Glu13380Asp)
 dbSNP ExAC
2g.178568741C>TCA430253440TTN,TTN-AS1c.69687G>A (p.Glu23229=)
c.50772G>A (p.Glu16924=)
c.50571G>A (p.Glu16857=)
c.50196G>A (p.Glu16732=)
c.77391G>A (p.Glu25797=)
c.72468G>A (p.Glu24156=)
n.447-2559C>T
n.2044-13831C>T
c.76488G>A (p.Glu25496=)
c.50382G>A (p.Glu16794=)
c.50241G>A (p.Glu16747=)
c.76284G>A (p.Glu25428=)
c.71682G>A (p.Glu23894=)
c.71679G>A (p.Glu23893=)
c.68721G>A (p.Glu22907=)
c.50337G>A (p.Glu16779=)
c.71832G>A (p.Glu23944=)
c.71829G>A (p.Glu23943=)
c.71262G>A (p.Glu23754=)
c.68604G>A (p.Glu22868=)
c.68523G>A (p.Glu22841=)
c.50286G>A (p.Glu16762=)
c.40140G>A (p.Glu13380=)
2g.178568742T>ACA349610722TTN,TTN-AS1c.69686A>T (p.Glu23229Val)
c.50771A>T (p.Glu16924Val)
c.50570A>T (p.Glu16857Val)
c.50195A>T (p.Glu16732Val)
c.77390A>T (p.Glu25797Val)
c.72467A>T (p.Glu24156Val)
n.447-2558T>A
n.2044-13830T>A
c.76487A>T (p.Glu25496Val)
c.50381A>T (p.Glu16794Val)
c.50240A>T (p.Glu16747Val)
c.76283A>T (p.Glu25428Val)
c.71681A>T (p.Glu23894Val)
c.71678A>T (p.Glu23893Val)
c.68720A>T (p.Glu22907Val)
c.50336A>T (p.Glu16779Val)
c.71831A>T (p.Glu23944Val)
c.71828A>T (p.Glu23943Val)
c.71261A>T (p.Glu23754Val)
c.68603A>T (p.Glu22868Val)
c.68522A>T (p.Glu22841Val)
c.50285A>T (p.Glu16762Val)
c.40139A>T (p.Glu13380Val)
2g.178568742T>CCA349610724TTN,TTN-AS1c.69686A>G (p.Glu23229Gly)
c.50771A>G (p.Glu16924Gly)
c.50570A>G (p.Glu16857Gly)
c.50195A>G (p.Glu16732Gly)
c.77390A>G (p.Glu25797Gly)
c.72467A>G (p.Glu24156Gly)
n.447-2558T>C
n.2044-13830T>C
c.76487A>G (p.Glu25496Gly)
c.50381A>G (p.Glu16794Gly)
c.50240A>G (p.Glu16747Gly)
c.76283A>G (p.Glu25428Gly)
c.71681A>G (p.Glu23894Gly)
c.71678A>G (p.Glu23893Gly)
c.68720A>G (p.Glu22907Gly)
c.50336A>G (p.Glu16779Gly)
c.71831A>G (p.Glu23944Gly)
c.71828A>G (p.Glu23943Gly)
c.71261A>G (p.Glu23754Gly)
c.68603A>G (p.Glu22868Gly)
c.68522A>G (p.Glu22841Gly)
c.50285A>G (p.Glu16762Gly)
c.40139A>G (p.Glu13380Gly)
2g.178568742T>GCA349610727TTN,TTN-AS1c.69686A>C (p.Glu23229Ala)
c.50771A>C (p.Glu16924Ala)
c.50570A>C (p.Glu16857Ala)
c.50195A>C (p.Glu16732Ala)
c.77390A>C (p.Glu25797Ala)
c.72467A>C (p.Glu24156Ala)
n.447-2558T>G
n.2044-13830T>G
c.76487A>C (p.Glu25496Ala)
c.50381A>C (p.Glu16794Ala)
c.50240A>C (p.Glu16747Ala)
c.76283A>C (p.Glu25428Ala)
c.71681A>C (p.Glu23894Ala)
c.71678A>C (p.Glu23893Ala)
c.68720A>C (p.Glu22907Ala)
c.50336A>C (p.Glu16779Ala)
c.71831A>C (p.Glu23944Ala)
c.71828A>C (p.Glu23943Ala)
c.71261A>C (p.Glu23754Ala)
c.68603A>C (p.Glu22868Ala)
c.68522A>C (p.Glu22841Ala)
c.50285A>C (p.Glu16762Ala)
c.40139A>C (p.Glu13380Ala)
2g.178568743C>ACA349610730TTN,TTN-AS1c.69685G>T (p.Glu23229Ter)
c.50770G>T (p.Glu16924Ter)
c.50569G>T (p.Glu16857Ter)
c.50194G>T (p.Glu16732Ter)
c.77389G>T (p.Glu25797Ter)
c.72466G>T (p.Glu24156Ter)
n.447-2557C>A
n.2044-13829C>A
c.76486G>T (p.Glu25496Ter)
c.50380G>T (p.Glu16794Ter)
c.50239G>T (p.Glu16747Ter)
c.76282G>T (p.Glu25428Ter)
c.71680G>T (p.Glu23894Ter)
c.71677G>T (p.Glu23893Ter)
c.68719G>T (p.Glu22907Ter)
c.50335G>T (p.Glu16779Ter)
c.71830G>T (p.Glu23944Ter)
c.71827G>T (p.Glu23943Ter)
c.71260G>T (p.Glu23754Ter)
c.68602G>T (p.Glu22868Ter)
c.68521G>T (p.Glu22841Ter)
c.50284G>T (p.Glu16762Ter)
c.40138G>T (p.Glu13380Ter)
2g.178568743C=CA1310530657TTN,TTN-AS1c.69685G= (p.Glu23229=)
c.50770G= (p.Glu16924=)
c.50569G= (p.Glu16857=)
c.50194G= (p.Glu16732=)
c.77389G= (p.Glu25797=)
c.72466G= (p.Glu24156=)
n.447-2557C=
n.2044-13829C=
c.76486G= (p.Glu25496=)
c.50380G= (p.Glu16794=)
c.50239G= (p.Glu16747=)
c.76282G= (p.Glu25428=)
c.71680G= (p.Glu23894=)
c.71677G= (p.Glu23893=)
c.68719G= (p.Glu22907=)
c.50335G= (p.Glu16779=)
c.71830G= (p.Glu23944=)
c.71827G= (p.Glu23943=)
c.71260G= (p.Glu23754=)
c.68602G= (p.Glu22868=)
c.68521G= (p.Glu22841=)
c.50284G= (p.Glu16762=)
c.40138G= (p.Glu13380=)
2g.178568743C>GCA349610731TTN,TTN-AS1c.69685G>C (p.Glu23229Gln)
c.50770G>C (p.Glu16924Gln)
c.50569G>C (p.Glu16857Gln)
c.50194G>C (p.Glu16732Gln)
c.77389G>C (p.Glu25797Gln)
c.72466G>C (p.Glu24156Gln)
n.447-2557C>G
n.2044-13829C>G
c.76486G>C (p.Glu25496Gln)
c.50380G>C (p.Glu16794Gln)
c.50239G>C (p.Glu16747Gln)
c.76282G>C (p.Glu25428Gln)
c.71680G>C (p.Glu23894Gln)
c.71677G>C (p.Glu23893Gln)
c.68719G>C (p.Glu22907Gln)
c.50335G>C (p.Glu16779Gln)
c.71830G>C (p.Glu23944Gln)
c.71827G>C (p.Glu23943Gln)
c.71260G>C (p.Glu23754Gln)
c.68602G>C (p.Glu22868Gln)
c.68521G>C (p.Glu22841Gln)
c.50284G>C (p.Glu16762Gln)
c.40138G>C (p.Glu13380Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178568743C>TCA1989784TTN,TTN-AS1c.69685G>A (p.Glu23229Lys)
c.50770G>A (p.Glu16924Lys)
c.50569G>A (p.Glu16857Lys)
c.50194G>A (p.Glu16732Lys)
c.77389G>A (p.Glu25797Lys)
c.72466G>A (p.Glu24156Lys)
n.447-2557C>T
n.2044-13829C>T
c.76486G>A (p.Glu25496Lys)
c.50380G>A (p.Glu16794Lys)
c.50239G>A (p.Glu16747Lys)
c.76282G>A (p.Glu25428Lys)
c.71680G>A (p.Glu23894Lys)
c.71677G>A (p.Glu23893Lys)
c.68719G>A (p.Glu22907Lys)
c.50335G>A (p.Glu16779Lys)
c.71830G>A (p.Glu23944Lys)
c.71827G>A (p.Glu23943Lys)
c.71260G>A (p.Glu23754Lys)
c.68602G>A (p.Glu22868Lys)
c.68521G>A (p.Glu22841Lys)
c.50284G>A (p.Glu16762Lys)
c.40138G>A (p.Glu13380Lys)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2g.178568744A>CCA349610735TTN,TTN-AS1c.69684T>G (p.Ile23228Met)
c.50769T>G (p.Ile16923Met)
c.50568T>G (p.Ile16856Met)
c.50193T>G (p.Ile16731Met)
c.77388T>G (p.Ile25796Met)
c.72465T>G (p.Ile24155Met)
n.447-2556A>C
n.2044-13828A>C
c.76485T>G (p.Ile25495Met)
c.50379T>G (p.Ile16793Met)
c.50238T>G (p.Ile16746Met)
c.76281T>G (p.Ile25427Met)
c.71679T>G (p.Ile23893Met)
c.71676T>G (p.Ile23892Met)
c.68718T>G (p.Ile22906Met)
c.50334T>G (p.Ile16778Met)
c.71829T>G (p.Ile23943Met)
c.71826T>G (p.Ile23942Met)
c.71259T>G (p.Ile23753Met)
c.68601T>G (p.Ile22867Met)
c.68520T>G (p.Ile22840Met)
c.50283T>G (p.Ile16761Met)
c.40137T>G (p.Ile13379Met)
2g.178568744A>GCA430253444TTN,TTN-AS1c.69684T>C (p.Ile23228=)
c.50769T>C (p.Ile16923=)
c.50568T>C (p.Ile16856=)
c.50193T>C (p.Ile16731=)
c.77388T>C (p.Ile25796=)
c.72465T>C (p.Ile24155=)
n.447-2556A>G
n.2044-13828A>G
c.76485T>C (p.Ile25495=)
c.50379T>C (p.Ile16793=)
c.50238T>C (p.Ile16746=)
c.76281T>C (p.Ile25427=)
c.71679T>C (p.Ile23893=)
c.71676T>C (p.Ile23892=)
c.68718T>C (p.Ile22906=)
c.50334T>C (p.Ile16778=)
c.71829T>C (p.Ile23943=)
c.71826T>C (p.Ile23942=)
c.71259T>C (p.Ile23753=)
c.68601T>C (p.Ile22867=)
c.68520T>C (p.Ile22840=)
c.50283T>C (p.Ile16761=)
c.40137T>C (p.Ile13379=)

Number of alleles fetched