Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178537163C>ACA349427099TTN,TTN-AS1c.92242G>T (p.Ala30748Ser)
c.73327G>T (p.Ala24443Ser)
c.73126G>T (p.Ala24376Ser)
c.72751G>T (p.Ala24251Ser)
c.99946G>T (p.Ala33316Ser)
c.95023G>T (p.Ala31675Ser)
n.446+13527C>A
n.317-198C>A
c.99043G>T (p.Ala33015Ser)
c.72937G>T (p.Ala24313Ser)
c.72796G>T (p.Ala24266Ser)
c.98839G>T (p.Ala32947Ser)
c.94237G>T (p.Ala31413Ser)
c.94234G>T (p.Ala31412Ser)
c.91276G>T (p.Ala30426Ser)
c.72892G>T (p.Ala24298Ser)
c.94387G>T (p.Ala31463Ser)
c.94384G>T (p.Ala31462Ser)
c.93817G>T (p.Ala31273Ser)
c.91159G>T (p.Ala30387Ser)
c.91078G>T (p.Ala30360Ser)
c.72841G>T (p.Ala24281Ser)
c.62695G>T (p.Ala20899Ser)
2g.178537163C=CA1310515272TTN,TTN-AS1c.92242G= (p.Ala30748=)
c.73327G= (p.Ala24443=)
c.73126G= (p.Ala24376=)
c.72751G= (p.Ala24251=)
c.99946G= (p.Ala33316=)
c.95023G= (p.Ala31675=)
n.446+13527C=
n.317-198C=
c.99043G= (p.Ala33015=)
c.72937G= (p.Ala24313=)
c.72796G= (p.Ala24266=)
c.98839G= (p.Ala32947=)
c.94237G= (p.Ala31413=)
c.94234G= (p.Ala31412=)
c.91276G= (p.Ala30426=)
c.72892G= (p.Ala24298=)
c.94387G= (p.Ala31463=)
c.94384G= (p.Ala31462=)
c.93817G= (p.Ala31273=)
c.91159G= (p.Ala30387=)
c.91078G= (p.Ala30360=)
c.72841G= (p.Ala24281=)
c.62695G= (p.Ala20899=)
2g.178537163C>GCA349427100TTN,TTN-AS1c.92242G>C (p.Ala30748Pro)
c.73327G>C (p.Ala24443Pro)
c.73126G>C (p.Ala24376Pro)
c.72751G>C (p.Ala24251Pro)
c.99946G>C (p.Ala33316Pro)
c.95023G>C (p.Ala31675Pro)
n.446+13527C>G
n.317-198C>G
c.99043G>C (p.Ala33015Pro)
c.72937G>C (p.Ala24313Pro)
c.72796G>C (p.Ala24266Pro)
c.98839G>C (p.Ala32947Pro)
c.94237G>C (p.Ala31413Pro)
c.94234G>C (p.Ala31412Pro)
c.91276G>C (p.Ala30426Pro)
c.72892G>C (p.Ala24298Pro)
c.94387G>C (p.Ala31463Pro)
c.94384G>C (p.Ala31462Pro)
c.93817G>C (p.Ala31273Pro)
c.91159G>C (p.Ala30387Pro)
c.91078G>C (p.Ala30360Pro)
c.72841G>C (p.Ala24281Pro)
c.62695G>C (p.Ala20899Pro)
2g.178537163C>TCA311091TTN,TTN-AS1c.92242G>A (p.Ala30748Thr)
c.73327G>A (p.Ala24443Thr)
c.73126G>A (p.Ala24376Thr)
c.72751G>A (p.Ala24251Thr)
c.99946G>A (p.Ala33316Thr)
c.95023G>A (p.Ala31675Thr)
n.446+13527C>T
n.317-198C>T
c.99043G>A (p.Ala33015Thr)
c.72937G>A (p.Ala24313Thr)
c.72796G>A (p.Ala24266Thr)
c.98839G>A (p.Ala32947Thr)
c.94237G>A (p.Ala31413Thr)
c.94234G>A (p.Ala31412Thr)
c.91276G>A (p.Ala30426Thr)
c.72892G>A (p.Ala24298Thr)
c.94387G>A (p.Ala31463Thr)
c.94384G>A (p.Ala31462Thr)
c.93817G>A (p.Ala31273Thr)
c.91159G>A (p.Ala30387Thr)
c.91078G>A (p.Ala30360Thr)
c.72841G>A (p.Ala24281Thr)
c.62695G>A (p.Ala20899Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178537164G>ACA1986104TTN,TTN-AS1c.92241C>T (p.Pro30747=)
c.73326C>T (p.Pro24442=)
c.73125C>T (p.Pro24375=)
c.72750C>T (p.Pro24250=)
c.99945C>T (p.Pro33315=)
c.95022C>T (p.Pro31674=)
n.446+13528G>A
n.317-197G>A
c.99042C>T (p.Pro33014=)
c.72936C>T (p.Pro24312=)
c.72795C>T (p.Pro24265=)
c.98838C>T (p.Pro32946=)
c.94236C>T (p.Pro31412=)
c.94233C>T (p.Pro31411=)
c.91275C>T (p.Pro30425=)
c.72891C>T (p.Pro24297=)
c.94386C>T (p.Pro31462=)
c.94383C>T (p.Pro31461=)
c.93816C>T (p.Pro31272=)
c.91158C>T (p.Pro30386=)
c.91077C>T (p.Pro30359=)
c.72840C>T (p.Pro24280=)
c.62694C>T (p.Pro20898=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178537164G>CCA430238866TTN,TTN-AS1c.92241C>G (p.Pro30747=)
c.73326C>G (p.Pro24442=)
c.73125C>G (p.Pro24375=)
c.72750C>G (p.Pro24250=)
c.99945C>G (p.Pro33315=)
c.95022C>G (p.Pro31674=)
n.446+13528G>C
n.317-197G>C
c.99042C>G (p.Pro33014=)
c.72936C>G (p.Pro24312=)
c.72795C>G (p.Pro24265=)
c.98838C>G (p.Pro32946=)
c.94236C>G (p.Pro31412=)
c.94233C>G (p.Pro31411=)
c.91275C>G (p.Pro30425=)
c.72891C>G (p.Pro24297=)
c.94386C>G (p.Pro31462=)
c.94383C>G (p.Pro31461=)
c.93816C>G (p.Pro31272=)
c.91158C>G (p.Pro30386=)
c.91077C>G (p.Pro30359=)
c.72840C>G (p.Pro24280=)
c.62694C>G (p.Pro20898=)
2g.178537164G=CA1310515275TTN,TTN-AS1c.92241C= (p.Pro30747=)
c.73326C= (p.Pro24442=)
c.73125C= (p.Pro24375=)
c.72750C= (p.Pro24250=)
c.99945C= (p.Pro33315=)
c.95022C= (p.Pro31674=)
n.446+13528G=
n.317-197G=
c.99042C= (p.Pro33014=)
c.72936C= (p.Pro24312=)
c.72795C= (p.Pro24265=)
c.98838C= (p.Pro32946=)
c.94236C= (p.Pro31412=)
c.94233C= (p.Pro31411=)
c.91275C= (p.Pro30425=)
c.72891C= (p.Pro24297=)
c.94386C= (p.Pro31462=)
c.94383C= (p.Pro31461=)
c.93816C= (p.Pro31272=)
c.91158C= (p.Pro30386=)
c.91077C= (p.Pro30359=)
c.72840C= (p.Pro24280=)
c.62694C= (p.Pro20898=)
2g.178537164G>TCA430238867TTN,TTN-AS1c.92241C>A (p.Pro30747=)
c.73326C>A (p.Pro24442=)
c.73125C>A (p.Pro24375=)
c.72750C>A (p.Pro24250=)
c.99945C>A (p.Pro33315=)
c.95022C>A (p.Pro31674=)
n.446+13528G>T
n.317-197G>T
c.99042C>A (p.Pro33014=)
c.72936C>A (p.Pro24312=)
c.72795C>A (p.Pro24265=)
c.98838C>A (p.Pro32946=)
c.94236C>A (p.Pro31412=)
c.94233C>A (p.Pro31411=)
c.91275C>A (p.Pro30425=)
c.72891C>A (p.Pro24297=)
c.94386C>A (p.Pro31462=)
c.94383C>A (p.Pro31461=)
c.93816C>A (p.Pro31272=)
c.91158C>A (p.Pro30386=)
c.91077C>A (p.Pro30359=)
c.72840C>A (p.Pro24280=)
c.62694C>A (p.Pro20898=)
 gnomAD v4
2g.178537165G>ACA349427101TTN,TTN-AS1c.92240C>T (p.Pro30747Leu)
c.73325C>T (p.Pro24442Leu)
c.73124C>T (p.Pro24375Leu)
c.72749C>T (p.Pro24250Leu)
c.99944C>T (p.Pro33315Leu)
c.95021C>T (p.Pro31674Leu)
n.446+13529G>A
n.317-196G>A
c.99041C>T (p.Pro33014Leu)
c.72935C>T (p.Pro24312Leu)
c.72794C>T (p.Pro24265Leu)
c.98837C>T (p.Pro32946Leu)
c.94235C>T (p.Pro31412Leu)
c.94232C>T (p.Pro31411Leu)
c.91274C>T (p.Pro30425Leu)
c.72890C>T (p.Pro24297Leu)
c.94385C>T (p.Pro31462Leu)
c.94382C>T (p.Pro31461Leu)
c.93815C>T (p.Pro31272Leu)
c.91157C>T (p.Pro30386Leu)
c.91076C>T (p.Pro30359Leu)
c.72839C>T (p.Pro24280Leu)
c.62693C>T (p.Pro20898Leu)
2g.178537165G>CCA349427102TTN,TTN-AS1c.92240C>G (p.Pro30747Arg)
c.73325C>G (p.Pro24442Arg)
c.73124C>G (p.Pro24375Arg)
c.72749C>G (p.Pro24250Arg)
c.99944C>G (p.Pro33315Arg)
c.95021C>G (p.Pro31674Arg)
n.446+13529G>C
n.317-196G>C
c.99041C>G (p.Pro33014Arg)
c.72935C>G (p.Pro24312Arg)
c.72794C>G (p.Pro24265Arg)
c.98837C>G (p.Pro32946Arg)
c.94235C>G (p.Pro31412Arg)
c.94232C>G (p.Pro31411Arg)
c.91274C>G (p.Pro30425Arg)
c.72890C>G (p.Pro24297Arg)
c.94385C>G (p.Pro31462Arg)
c.94382C>G (p.Pro31461Arg)
c.93815C>G (p.Pro31272Arg)
c.91157C>G (p.Pro30386Arg)
c.91076C>G (p.Pro30359Arg)
c.72839C>G (p.Pro24280Arg)
c.62693C>G (p.Pro20898Arg)
2g.178537165G>TCA349427103TTN,TTN-AS1c.92240C>A (p.Pro30747His)
c.73325C>A (p.Pro24442His)
c.73124C>A (p.Pro24375His)
c.72749C>A (p.Pro24250His)
c.99944C>A (p.Pro33315His)
c.95021C>A (p.Pro31674His)
n.446+13529G>T
n.317-196G>T
c.99041C>A (p.Pro33014His)
c.72935C>A (p.Pro24312His)
c.72794C>A (p.Pro24265His)
c.98837C>A (p.Pro32946His)
c.94235C>A (p.Pro31412His)
c.94232C>A (p.Pro31411His)
c.91274C>A (p.Pro30425His)
c.72890C>A (p.Pro24297His)
c.94385C>A (p.Pro31462His)
c.94382C>A (p.Pro31461His)
c.93815C>A (p.Pro31272His)
c.91157C>A (p.Pro30386His)
c.91076C>A (p.Pro30359His)
c.72839C>A (p.Pro24280His)
c.62693C>A (p.Pro20898His)
2g.178537166G>ACA349427104TTN,TTN-AS1c.92239C>T (p.Pro30747Ser)
c.73324C>T (p.Pro24442Ser)
c.73123C>T (p.Pro24375Ser)
c.72748C>T (p.Pro24250Ser)
c.99943C>T (p.Pro33315Ser)
c.95020C>T (p.Pro31674Ser)
n.446+13530G>A
n.317-195G>A
c.99040C>T (p.Pro33014Ser)
c.72934C>T (p.Pro24312Ser)
c.72793C>T (p.Pro24265Ser)
c.98836C>T (p.Pro32946Ser)
c.94234C>T (p.Pro31412Ser)
c.94231C>T (p.Pro31411Ser)
c.91273C>T (p.Pro30425Ser)
c.72889C>T (p.Pro24297Ser)
c.94384C>T (p.Pro31462Ser)
c.94381C>T (p.Pro31461Ser)
c.93814C>T (p.Pro31272Ser)
c.91156C>T (p.Pro30386Ser)
c.91075C>T (p.Pro30359Ser)
c.72838C>T (p.Pro24280Ser)
c.62692C>T (p.Pro20898Ser)
2g.178537166G>CCA349427105TTN,TTN-AS1c.92239C>G (p.Pro30747Ala)
c.73324C>G (p.Pro24442Ala)
c.73123C>G (p.Pro24375Ala)
c.72748C>G (p.Pro24250Ala)
c.99943C>G (p.Pro33315Ala)
c.95020C>G (p.Pro31674Ala)
n.446+13530G>C
n.317-195G>C
c.99040C>G (p.Pro33014Ala)
c.72934C>G (p.Pro24312Ala)
c.72793C>G (p.Pro24265Ala)
c.98836C>G (p.Pro32946Ala)
c.94234C>G (p.Pro31412Ala)
c.94231C>G (p.Pro31411Ala)
c.91273C>G (p.Pro30425Ala)
c.72889C>G (p.Pro24297Ala)
c.94384C>G (p.Pro31462Ala)
c.94381C>G (p.Pro31461Ala)
c.93814C>G (p.Pro31272Ala)
c.91156C>G (p.Pro30386Ala)
c.91075C>G (p.Pro30359Ala)
c.72838C>G (p.Pro24280Ala)
c.62692C>G (p.Pro20898Ala)
2g.178537166G=CA1310515278TTN,TTN-AS1c.92239C= (p.Pro30747=)
c.73324C= (p.Pro24442=)
c.73123C= (p.Pro24375=)
c.72748C= (p.Pro24250=)
c.99943C= (p.Pro33315=)
c.95020C= (p.Pro31674=)
n.446+13530G=
n.317-195G=
c.99040C= (p.Pro33014=)
c.72934C= (p.Pro24312=)
c.72793C= (p.Pro24265=)
c.98836C= (p.Pro32946=)
c.94234C= (p.Pro31412=)
c.94231C= (p.Pro31411=)
c.91273C= (p.Pro30425=)
c.72889C= (p.Pro24297=)
c.94384C= (p.Pro31462=)
c.94381C= (p.Pro31461=)
c.93814C= (p.Pro31272=)
c.91156C= (p.Pro30386=)
c.91075C= (p.Pro30359=)
c.72838C= (p.Pro24280=)
c.62692C= (p.Pro20898=)
2g.178537166G>TCA349427106TTN,TTN-AS1c.92239C>A (p.Pro30747Thr)
c.73324C>A (p.Pro24442Thr)
c.73123C>A (p.Pro24375Thr)
c.72748C>A (p.Pro24250Thr)
c.99943C>A (p.Pro33315Thr)
c.95020C>A (p.Pro31674Thr)
n.446+13530G>T
n.317-195G>T
c.99040C>A (p.Pro33014Thr)
c.72934C>A (p.Pro24312Thr)
c.72793C>A (p.Pro24265Thr)
c.98836C>A (p.Pro32946Thr)
c.94234C>A (p.Pro31412Thr)
c.94231C>A (p.Pro31411Thr)
c.91273C>A (p.Pro30425Thr)
c.72889C>A (p.Pro24297Thr)
c.94384C>A (p.Pro31462Thr)
c.94381C>A (p.Pro31461Thr)
c.93814C>A (p.Pro31272Thr)
c.91156C>A (p.Pro30386Thr)
c.91075C>A (p.Pro30359Thr)
c.72838C>A (p.Pro24280Thr)
c.62692C>A (p.Pro20898Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.178537167T>ACA430238870TTN,TTN-AS1c.92238A>T (p.Pro30746=)
c.73323A>T (p.Pro24441=)
c.73122A>T (p.Pro24374=)
c.72747A>T (p.Pro24249=)
c.99942A>T (p.Pro33314=)
c.95019A>T (p.Pro31673=)
n.446+13531T>A
n.317-194T>A
c.99039A>T (p.Pro33013=)
c.72933A>T (p.Pro24311=)
c.72792A>T (p.Pro24264=)
c.98835A>T (p.Pro32945=)
c.94233A>T (p.Pro31411=)
c.94230A>T (p.Pro31410=)
c.91272A>T (p.Pro30424=)
c.72888A>T (p.Pro24296=)
c.94383A>T (p.Pro31461=)
c.94380A>T (p.Pro31460=)
c.93813A>T (p.Pro31271=)
c.91155A>T (p.Pro30385=)
c.91074A>T (p.Pro30358=)
c.72837A>T (p.Pro24279=)
c.62691A>T (p.Pro20897=)
2g.178537167T>CCA430238872TTN,TTN-AS1c.92238A>G (p.Pro30746=)
c.73323A>G (p.Pro24441=)
c.73122A>G (p.Pro24374=)
c.72747A>G (p.Pro24249=)
c.99942A>G (p.Pro33314=)
c.95019A>G (p.Pro31673=)
n.446+13531T>C
n.317-194T>C
c.99039A>G (p.Pro33013=)
c.72933A>G (p.Pro24311=)
c.72792A>G (p.Pro24264=)
c.98835A>G (p.Pro32945=)
c.94233A>G (p.Pro31411=)
c.94230A>G (p.Pro31410=)
c.91272A>G (p.Pro30424=)
c.72888A>G (p.Pro24296=)
c.94383A>G (p.Pro31461=)
c.94380A>G (p.Pro31460=)
c.93813A>G (p.Pro31271=)
c.91155A>G (p.Pro30385=)
c.91074A>G (p.Pro30358=)
c.72837A>G (p.Pro24279=)
c.62691A>G (p.Pro20897=)
2g.178537167T>GCA430238871TTN,TTN-AS1c.92238A>C (p.Pro30746=)
c.73323A>C (p.Pro24441=)
c.73122A>C (p.Pro24374=)
c.72747A>C (p.Pro24249=)
c.99942A>C (p.Pro33314=)
c.95019A>C (p.Pro31673=)
n.446+13531T>G
n.317-194T>G
c.99039A>C (p.Pro33013=)
c.72933A>C (p.Pro24311=)
c.72792A>C (p.Pro24264=)
c.98835A>C (p.Pro32945=)
c.94233A>C (p.Pro31411=)
c.94230A>C (p.Pro31410=)
c.91272A>C (p.Pro30424=)
c.72888A>C (p.Pro24296=)
c.94383A>C (p.Pro31461=)
c.94380A>C (p.Pro31460=)
c.93813A>C (p.Pro31271=)
c.91155A>C (p.Pro30385=)
c.91074A>C (p.Pro30358=)
c.72837A>C (p.Pro24279=)
c.62691A>C (p.Pro20897=)
2g.178537168G>ACA349427108TTN,TTN-AS1c.92237C>T (p.Pro30746Leu)
c.73322C>T (p.Pro24441Leu)
c.73121C>T (p.Pro24374Leu)
c.72746C>T (p.Pro24249Leu)
c.99941C>T (p.Pro33314Leu)
c.95018C>T (p.Pro31673Leu)
n.446+13532G>A
n.317-193G>A
c.99038C>T (p.Pro33013Leu)
c.72932C>T (p.Pro24311Leu)
c.72791C>T (p.Pro24264Leu)
c.98834C>T (p.Pro32945Leu)
c.94232C>T (p.Pro31411Leu)
c.94229C>T (p.Pro31410Leu)
c.91271C>T (p.Pro30424Leu)
c.72887C>T (p.Pro24296Leu)
c.94382C>T (p.Pro31461Leu)
c.94379C>T (p.Pro31460Leu)
c.93812C>T (p.Pro31271Leu)
c.91154C>T (p.Pro30385Leu)
c.91073C>T (p.Pro30358Leu)
c.72836C>T (p.Pro24279Leu)
c.62690C>T (p.Pro20897Leu)
 gnomAD v4
2g.178537168G>CCA349427109TTN,TTN-AS1c.92237C>G (p.Pro30746Arg)
c.73322C>G (p.Pro24441Arg)
c.73121C>G (p.Pro24374Arg)
c.72746C>G (p.Pro24249Arg)
c.99941C>G (p.Pro33314Arg)
c.95018C>G (p.Pro31673Arg)
n.446+13532G>C
n.317-193G>C
c.99038C>G (p.Pro33013Arg)
c.72932C>G (p.Pro24311Arg)
c.72791C>G (p.Pro24264Arg)
c.98834C>G (p.Pro32945Arg)
c.94232C>G (p.Pro31411Arg)
c.94229C>G (p.Pro31410Arg)
c.91271C>G (p.Pro30424Arg)
c.72887C>G (p.Pro24296Arg)
c.94382C>G (p.Pro31461Arg)
c.94379C>G (p.Pro31460Arg)
c.93812C>G (p.Pro31271Arg)
c.91154C>G (p.Pro30385Arg)
c.91073C>G (p.Pro30358Arg)
c.72836C>G (p.Pro24279Arg)
c.62690C>G (p.Pro20897Arg)
2g.178537168G>TCA349427107TTN,TTN-AS1c.92237C>A (p.Pro30746Gln)
c.73322C>A (p.Pro24441Gln)
c.73121C>A (p.Pro24374Gln)
c.72746C>A (p.Pro24249Gln)
c.99941C>A (p.Pro33314Gln)
c.95018C>A (p.Pro31673Gln)
n.446+13532G>T
n.317-193G>T
c.99038C>A (p.Pro33013Gln)
c.72932C>A (p.Pro24311Gln)
c.72791C>A (p.Pro24264Gln)
c.98834C>A (p.Pro32945Gln)
c.94232C>A (p.Pro31411Gln)
c.94229C>A (p.Pro31410Gln)
c.91271C>A (p.Pro30424Gln)
c.72887C>A (p.Pro24296Gln)
c.94382C>A (p.Pro31461Gln)
c.94379C>A (p.Pro31460Gln)
c.93812C>A (p.Pro31271Gln)
c.91154C>A (p.Pro30385Gln)
c.91073C>A (p.Pro30358Gln)
c.72836C>A (p.Pro24279Gln)
c.62690C>A (p.Pro20897Gln)
2g.178537169G>ACA1986105TTN,TTN-AS1c.92236C>T (p.Pro30746Ser)
c.73321C>T (p.Pro24441Ser)
c.73120C>T (p.Pro24374Ser)
c.72745C>T (p.Pro24249Ser)
c.99940C>T (p.Pro33314Ser)
c.95017C>T (p.Pro31673Ser)
n.446+13533G>A
n.317-192G>A
c.99037C>T (p.Pro33013Ser)
c.72931C>T (p.Pro24311Ser)
c.72790C>T (p.Pro24264Ser)
c.98833C>T (p.Pro32945Ser)
c.94231C>T (p.Pro31411Ser)
c.94228C>T (p.Pro31410Ser)
c.91270C>T (p.Pro30424Ser)
c.72886C>T (p.Pro24296Ser)
c.94381C>T (p.Pro31461Ser)
c.94378C>T (p.Pro31460Ser)
c.93811C>T (p.Pro31271Ser)
c.91153C>T (p.Pro30385Ser)
c.91072C>T (p.Pro30358Ser)
c.72835C>T (p.Pro24279Ser)
c.62689C>T (p.Pro20897Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178537169G>CCA349427110TTN,TTN-AS1c.92236C>G (p.Pro30746Ala)
c.73321C>G (p.Pro24441Ala)
c.73120C>G (p.Pro24374Ala)
c.72745C>G (p.Pro24249Ala)
c.99940C>G (p.Pro33314Ala)
c.95017C>G (p.Pro31673Ala)
n.446+13533G>C
n.317-192G>C
c.99037C>G (p.Pro33013Ala)
c.72931C>G (p.Pro24311Ala)
c.72790C>G (p.Pro24264Ala)
c.98833C>G (p.Pro32945Ala)
c.94231C>G (p.Pro31411Ala)
c.94228C>G (p.Pro31410Ala)
c.91270C>G (p.Pro30424Ala)
c.72886C>G (p.Pro24296Ala)
c.94381C>G (p.Pro31461Ala)
c.94378C>G (p.Pro31460Ala)
c.93811C>G (p.Pro31271Ala)
c.91153C>G (p.Pro30385Ala)
c.91072C>G (p.Pro30358Ala)
c.72835C>G (p.Pro24279Ala)
c.62689C>G (p.Pro20897Ala)
2g.178537169G=CA1310515279TTN,TTN-AS1c.92236C= (p.Pro30746=)
c.73321C= (p.Pro24441=)
c.73120C= (p.Pro24374=)
c.72745C= (p.Pro24249=)
c.99940C= (p.Pro33314=)
c.95017C= (p.Pro31673=)
n.446+13533G=
n.317-192G=
c.99037C= (p.Pro33013=)
c.72931C= (p.Pro24311=)
c.72790C= (p.Pro24264=)
c.98833C= (p.Pro32945=)
c.94231C= (p.Pro31411=)
c.94228C= (p.Pro31410=)
c.91270C= (p.Pro30424=)
c.72886C= (p.Pro24296=)
c.94381C= (p.Pro31461=)
c.94378C= (p.Pro31460=)
c.93811C= (p.Pro31271=)
c.91153C= (p.Pro30385=)
c.91072C= (p.Pro30358=)
c.72835C= (p.Pro24279=)
c.62689C= (p.Pro20897=)
2g.178537169G>TCA349427111TTN,TTN-AS1c.92236C>A (p.Pro30746Thr)
c.73321C>A (p.Pro24441Thr)
c.73120C>A (p.Pro24374Thr)
c.72745C>A (p.Pro24249Thr)
c.99940C>A (p.Pro33314Thr)
c.95017C>A (p.Pro31673Thr)
n.446+13533G>T
n.317-192G>T
c.99037C>A (p.Pro33013Thr)
c.72931C>A (p.Pro24311Thr)
c.72790C>A (p.Pro24264Thr)
c.98833C>A (p.Pro32945Thr)
c.94231C>A (p.Pro31411Thr)
c.94228C>A (p.Pro31410Thr)
c.91270C>A (p.Pro30424Thr)
c.72886C>A (p.Pro24296Thr)
c.94381C>A (p.Pro31461Thr)
c.94378C>A (p.Pro31460Thr)
c.93811C>A (p.Pro31271Thr)
c.91153C>A (p.Pro30385Thr)
c.91072C>A (p.Pro30358Thr)
c.72835C>A (p.Pro24279Thr)
c.62689C>A (p.Pro20897Thr)
2g.178537170T>ACA349427112TTN,TTN-AS1c.92235A>T (p.Lys30745Asn)
c.73320A>T (p.Lys24440Asn)
c.73119A>T (p.Lys24373Asn)
c.72744A>T (p.Lys24248Asn)
c.99939A>T (p.Lys33313Asn)
c.95016A>T (p.Lys31672Asn)
n.446+13534T>A
n.317-191T>A
c.99036A>T (p.Lys33012Asn)
c.72930A>T (p.Lys24310Asn)
c.72789A>T (p.Lys24263Asn)
c.98832A>T (p.Lys32944Asn)
c.94230A>T (p.Lys31410Asn)
c.94227A>T (p.Lys31409Asn)
c.91269A>T (p.Lys30423Asn)
c.72885A>T (p.Lys24295Asn)
c.94380A>T (p.Lys31460Asn)
c.94377A>T (p.Lys31459Asn)
c.93810A>T (p.Lys31270Asn)
c.91152A>T (p.Lys30384Asn)
c.91071A>T (p.Lys30357Asn)
c.72834A>T (p.Lys24278Asn)
c.62688A>T (p.Lys20896Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.178537170T>CCA430238875TTN,TTN-AS1c.92235A>G (p.Lys30745=)
c.73320A>G (p.Lys24440=)
c.73119A>G (p.Lys24373=)
c.72744A>G (p.Lys24248=)
c.99939A>G (p.Lys33313=)
c.95016A>G (p.Lys31672=)
n.446+13534T>C
n.317-191T>C
c.99036A>G (p.Lys33012=)
c.72930A>G (p.Lys24310=)
c.72789A>G (p.Lys24263=)
c.98832A>G (p.Lys32944=)
c.94230A>G (p.Lys31410=)
c.94227A>G (p.Lys31409=)
c.91269A>G (p.Lys30423=)
c.72885A>G (p.Lys24295=)
c.94380A>G (p.Lys31460=)
c.94377A>G (p.Lys31459=)
c.93810A>G (p.Lys31270=)
c.91152A>G (p.Lys30384=)
c.91071A>G (p.Lys30357=)
c.72834A>G (p.Lys24278=)
c.62688A>G (p.Lys20896=)
 gnomAD v4
2g.178537170T>GCA349427113TTN,TTN-AS1c.92235A>C (p.Lys30745Asn)
c.73320A>C (p.Lys24440Asn)
c.73119A>C (p.Lys24373Asn)
c.72744A>C (p.Lys24248Asn)
c.99939A>C (p.Lys33313Asn)
c.95016A>C (p.Lys31672Asn)
n.446+13534T>G
n.317-191T>G
c.99036A>C (p.Lys33012Asn)
c.72930A>C (p.Lys24310Asn)
c.72789A>C (p.Lys24263Asn)
c.98832A>C (p.Lys32944Asn)
c.94230A>C (p.Lys31410Asn)
c.94227A>C (p.Lys31409Asn)
c.91269A>C (p.Lys30423Asn)
c.72885A>C (p.Lys24295Asn)
c.94380A>C (p.Lys31460Asn)
c.94377A>C (p.Lys31459Asn)
c.93810A>C (p.Lys31270Asn)
c.91152A>C (p.Lys30384Asn)
c.91071A>C (p.Lys30357Asn)
c.72834A>C (p.Lys24278Asn)
c.62688A>C (p.Lys20896Asn)
2g.178537170T=CA1310515281TTN,TTN-AS1c.92235A= (p.Lys30745=)
c.73320A= (p.Lys24440=)
c.73119A= (p.Lys24373=)
c.72744A= (p.Lys24248=)
c.99939A= (p.Lys33313=)
c.95016A= (p.Lys31672=)
n.446+13534T=
n.317-191T=
c.99036A= (p.Lys33012=)
c.72930A= (p.Lys24310=)
c.72789A= (p.Lys24263=)
c.98832A= (p.Lys32944=)
c.94230A= (p.Lys31410=)
c.94227A= (p.Lys31409=)
c.91269A= (p.Lys30423=)
c.72885A= (p.Lys24295=)
c.94380A= (p.Lys31460=)
c.94377A= (p.Lys31459=)
c.93810A= (p.Lys31270=)
c.91152A= (p.Lys30384=)
c.91071A= (p.Lys30357=)
c.72834A= (p.Lys24278=)
c.62688A= (p.Lys20896=)
2g.178537171T>ACA349427116TTN,TTN-AS1c.92234A>T (p.Lys30745Ile)
c.73319A>T (p.Lys24440Ile)
c.73118A>T (p.Lys24373Ile)
c.72743A>T (p.Lys24248Ile)
c.99938A>T (p.Lys33313Ile)
c.95015A>T (p.Lys31672Ile)
n.446+13535T>A
n.317-190T>A
c.99035A>T (p.Lys33012Ile)
c.72929A>T (p.Lys24310Ile)
c.72788A>T (p.Lys24263Ile)
c.98831A>T (p.Lys32944Ile)
c.94229A>T (p.Lys31410Ile)
c.94226A>T (p.Lys31409Ile)
c.91268A>T (p.Lys30423Ile)
c.72884A>T (p.Lys24295Ile)
c.94379A>T (p.Lys31460Ile)
c.94376A>T (p.Lys31459Ile)
c.93809A>T (p.Lys31270Ile)
c.91151A>T (p.Lys30384Ile)
c.91070A>T (p.Lys30357Ile)
c.72833A>T (p.Lys24278Ile)
c.62687A>T (p.Lys20896Ile)
2g.178537171T>CCA349427115TTN,TTN-AS1c.92234A>G (p.Lys30745Arg)
c.73319A>G (p.Lys24440Arg)
c.73118A>G (p.Lys24373Arg)
c.72743A>G (p.Lys24248Arg)
c.99938A>G (p.Lys33313Arg)
c.95015A>G (p.Lys31672Arg)
n.446+13535T>C
n.317-190T>C
c.99035A>G (p.Lys33012Arg)
c.72929A>G (p.Lys24310Arg)
c.72788A>G (p.Lys24263Arg)
c.98831A>G (p.Lys32944Arg)
c.94229A>G (p.Lys31410Arg)
c.94226A>G (p.Lys31409Arg)
c.91268A>G (p.Lys30423Arg)
c.72884A>G (p.Lys24295Arg)
c.94379A>G (p.Lys31460Arg)
c.94376A>G (p.Lys31459Arg)
c.93809A>G (p.Lys31270Arg)
c.91151A>G (p.Lys30384Arg)
c.91070A>G (p.Lys30357Arg)
c.72833A>G (p.Lys24278Arg)
c.62687A>G (p.Lys20896Arg)
2g.178537171T>GCA349427114TTN,TTN-AS1c.92234A>C (p.Lys30745Thr)
c.73319A>C (p.Lys24440Thr)
c.73118A>C (p.Lys24373Thr)
c.72743A>C (p.Lys24248Thr)
c.99938A>C (p.Lys33313Thr)
c.95015A>C (p.Lys31672Thr)
n.446+13535T>G
n.317-190T>G
c.99035A>C (p.Lys33012Thr)
c.72929A>C (p.Lys24310Thr)
c.72788A>C (p.Lys24263Thr)
c.98831A>C (p.Lys32944Thr)
c.94229A>C (p.Lys31410Thr)
c.94226A>C (p.Lys31409Thr)
c.91268A>C (p.Lys30423Thr)
c.72884A>C (p.Lys24295Thr)
c.94379A>C (p.Lys31460Thr)
c.94376A>C (p.Lys31459Thr)
c.93809A>C (p.Lys31270Thr)
c.91151A>C (p.Lys30384Thr)
c.91070A>C (p.Lys30357Thr)
c.72833A>C (p.Lys24278Thr)
c.62687A>C (p.Lys20896Thr)
2g.178537172T>ACA349427117TTN,TTN-AS1c.92233A>T (p.Lys30745Ter)
c.73318A>T (p.Lys24440Ter)
c.73117A>T (p.Lys24373Ter)
c.72742A>T (p.Lys24248Ter)
c.99937A>T (p.Lys33313Ter)
c.95014A>T (p.Lys31672Ter)
n.446+13536T>A
n.317-189T>A
c.99034A>T (p.Lys33012Ter)
c.72928A>T (p.Lys24310Ter)
c.72787A>T (p.Lys24263Ter)
c.98830A>T (p.Lys32944Ter)
c.94228A>T (p.Lys31410Ter)
c.94225A>T (p.Lys31409Ter)
c.91267A>T (p.Lys30423Ter)
c.72883A>T (p.Lys24295Ter)
c.94378A>T (p.Lys31460Ter)
c.94375A>T (p.Lys31459Ter)
c.93808A>T (p.Lys31270Ter)
c.91150A>T (p.Lys30384Ter)
c.91069A>T (p.Lys30357Ter)
c.72832A>T (p.Lys24278Ter)
c.62686A>T (p.Lys20896Ter)
2g.178537172T>CCA349427118TTN,TTN-AS1c.92233A>G (p.Lys30745Glu)
c.73318A>G (p.Lys24440Glu)
c.73117A>G (p.Lys24373Glu)
c.72742A>G (p.Lys24248Glu)
c.99937A>G (p.Lys33313Glu)
c.95014A>G (p.Lys31672Glu)
n.446+13536T>C
n.317-189T>C
c.99034A>G (p.Lys33012Glu)
c.72928A>G (p.Lys24310Glu)
c.72787A>G (p.Lys24263Glu)
c.98830A>G (p.Lys32944Glu)
c.94228A>G (p.Lys31410Glu)
c.94225A>G (p.Lys31409Glu)
c.91267A>G (p.Lys30423Glu)
c.72883A>G (p.Lys24295Glu)
c.94378A>G (p.Lys31460Glu)
c.94375A>G (p.Lys31459Glu)
c.93808A>G (p.Lys31270Glu)
c.91150A>G (p.Lys30384Glu)
c.91069A>G (p.Lys30357Glu)
c.72832A>G (p.Lys24278Glu)
c.62686A>G (p.Lys20896Glu)
2g.178537172T>GCA349427119TTN,TTN-AS1c.92233A>C (p.Lys30745Gln)
c.73318A>C (p.Lys24440Gln)
c.73117A>C (p.Lys24373Gln)
c.72742A>C (p.Lys24248Gln)
c.99937A>C (p.Lys33313Gln)
c.95014A>C (p.Lys31672Gln)
n.446+13536T>G
n.317-189T>G
c.99034A>C (p.Lys33012Gln)
c.72928A>C (p.Lys24310Gln)
c.72787A>C (p.Lys24263Gln)
c.98830A>C (p.Lys32944Gln)
c.94228A>C (p.Lys31410Gln)
c.94225A>C (p.Lys31409Gln)
c.91267A>C (p.Lys30423Gln)
c.72883A>C (p.Lys24295Gln)
c.94378A>C (p.Lys31460Gln)
c.94375A>C (p.Lys31459Gln)
c.93808A>C (p.Lys31270Gln)
c.91150A>C (p.Lys30384Gln)
c.91069A>C (p.Lys30357Gln)
c.72832A>C (p.Lys24278Gln)
c.62686A>C (p.Lys20896Gln)
2g.178537173C>ACA349427120TTN,TTN-AS1c.92232G>T (p.Trp30744Cys)
c.73317G>T (p.Trp24439Cys)
c.73116G>T (p.Trp24372Cys)
c.72741G>T (p.Trp24247Cys)
c.99936G>T (p.Trp33312Cys)
c.95013G>T (p.Trp31671Cys)
n.446+13537C>A
n.317-188C>A
c.99033G>T (p.Trp33011Cys)
c.72927G>T (p.Trp24309Cys)
c.72786G>T (p.Trp24262Cys)
c.98829G>T (p.Trp32943Cys)
c.94227G>T (p.Trp31409Cys)
c.94224G>T (p.Trp31408Cys)
c.91266G>T (p.Trp30422Cys)
c.72882G>T (p.Trp24294Cys)
c.94377G>T (p.Trp31459Cys)
c.94374G>T (p.Trp31458Cys)
c.93807G>T (p.Trp31269Cys)
c.91149G>T (p.Trp30383Cys)
c.91068G>T (p.Trp30356Cys)
c.72831G>T (p.Trp24277Cys)
c.62685G>T (p.Trp20895Cys)
2g.178537173C=CA1310515282TTN,TTN-AS1c.92232G= (p.Trp30744=)
c.73317G= (p.Trp24439=)
c.73116G= (p.Trp24372=)
c.72741G= (p.Trp24247=)
c.99936G= (p.Trp33312=)
c.95013G= (p.Trp31671=)
n.446+13537C=
n.317-188C=
c.99033G= (p.Trp33011=)
c.72927G= (p.Trp24309=)
c.72786G= (p.Trp24262=)
c.98829G= (p.Trp32943=)
c.94227G= (p.Trp31409=)
c.94224G= (p.Trp31408=)
c.91266G= (p.Trp30422=)
c.72882G= (p.Trp24294=)
c.94377G= (p.Trp31459=)
c.94374G= (p.Trp31458=)
c.93807G= (p.Trp31269=)
c.91149G= (p.Trp30383=)
c.91068G= (p.Trp30356=)
c.72831G= (p.Trp24277=)
c.62685G= (p.Trp20895=)
2g.178537173C>GCA349427121TTN,TTN-AS1c.92232G>C (p.Trp30744Cys)
c.73317G>C (p.Trp24439Cys)
c.73116G>C (p.Trp24372Cys)
c.72741G>C (p.Trp24247Cys)
c.99936G>C (p.Trp33312Cys)
c.95013G>C (p.Trp31671Cys)
n.446+13537C>G
n.317-188C>G
c.99033G>C (p.Trp33011Cys)
c.72927G>C (p.Trp24309Cys)
c.72786G>C (p.Trp24262Cys)
c.98829G>C (p.Trp32943Cys)
c.94227G>C (p.Trp31409Cys)
c.94224G>C (p.Trp31408Cys)
c.91266G>C (p.Trp30422Cys)
c.72882G>C (p.Trp24294Cys)
c.94377G>C (p.Trp31459Cys)
c.94374G>C (p.Trp31458Cys)
c.93807G>C (p.Trp31269Cys)
c.91149G>C (p.Trp30383Cys)
c.91068G>C (p.Trp30356Cys)
c.72831G>C (p.Trp24277Cys)
c.62685G>C (p.Trp20895Cys)
2g.178537173C>TCA349427122TTN,TTN-AS1c.92232G>A (p.Trp30744Ter)
c.73317G>A (p.Trp24439Ter)
c.73116G>A (p.Trp24372Ter)
c.72741G>A (p.Trp24247Ter)
c.99936G>A (p.Trp33312Ter)
c.95013G>A (p.Trp31671Ter)
n.446+13537C>T
n.317-188C>T
c.99033G>A (p.Trp33011Ter)
c.72927G>A (p.Trp24309Ter)
c.72786G>A (p.Trp24262Ter)
c.98829G>A (p.Trp32943Ter)
c.94227G>A (p.Trp31409Ter)
c.94224G>A (p.Trp31408Ter)
c.91266G>A (p.Trp30422Ter)
c.72882G>A (p.Trp24294Ter)
c.94377G>A (p.Trp31459Ter)
c.94374G>A (p.Trp31458Ter)
c.93807G>A (p.Trp31269Ter)
c.91149G>A (p.Trp30383Ter)
c.91068G>A (p.Trp30356Ter)
c.72831G>A (p.Trp24277Ter)
c.62685G>A (p.Trp20895Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178537174C>ACA349427123TTN,TTN-AS1c.92231G>T (p.Trp30744Leu)
c.73316G>T (p.Trp24439Leu)
c.73115G>T (p.Trp24372Leu)
c.72740G>T (p.Trp24247Leu)
c.99935G>T (p.Trp33312Leu)
c.95012G>T (p.Trp31671Leu)
n.446+13538C>A
n.317-187C>A
c.99032G>T (p.Trp33011Leu)
c.72926G>T (p.Trp24309Leu)
c.72785G>T (p.Trp24262Leu)
c.98828G>T (p.Trp32943Leu)
c.94226G>T (p.Trp31409Leu)
c.94223G>T (p.Trp31408Leu)
c.91265G>T (p.Trp30422Leu)
c.72881G>T (p.Trp24294Leu)
c.94376G>T (p.Trp31459Leu)
c.94373G>T (p.Trp31458Leu)
c.93806G>T (p.Trp31269Leu)
c.91148G>T (p.Trp30383Leu)
c.91067G>T (p.Trp30356Leu)
c.72830G>T (p.Trp24277Leu)
c.62684G>T (p.Trp20895Leu)
2g.178537174C>GCA349427125TTN,TTN-AS1c.92231G>C (p.Trp30744Ser)
c.73316G>C (p.Trp24439Ser)
c.73115G>C (p.Trp24372Ser)
c.72740G>C (p.Trp24247Ser)
c.99935G>C (p.Trp33312Ser)
c.95012G>C (p.Trp31671Ser)
n.446+13538C>G
n.317-187C>G
c.99032G>C (p.Trp33011Ser)
c.72926G>C (p.Trp24309Ser)
c.72785G>C (p.Trp24262Ser)
c.98828G>C (p.Trp32943Ser)
c.94226G>C (p.Trp31409Ser)
c.94223G>C (p.Trp31408Ser)
c.91265G>C (p.Trp30422Ser)
c.72881G>C (p.Trp24294Ser)
c.94376G>C (p.Trp31459Ser)
c.94373G>C (p.Trp31458Ser)
c.93806G>C (p.Trp31269Ser)
c.91148G>C (p.Trp30383Ser)
c.91067G>C (p.Trp30356Ser)
c.72830G>C (p.Trp24277Ser)
c.62684G>C (p.Trp20895Ser)
2g.178537174C>TCA349427124TTN,TTN-AS1c.92231G>A (p.Trp30744Ter)
c.73316G>A (p.Trp24439Ter)
c.73115G>A (p.Trp24372Ter)
c.72740G>A (p.Trp24247Ter)
c.99935G>A (p.Trp33312Ter)
c.95012G>A (p.Trp31671Ter)
n.446+13538C>T
n.317-187C>T
c.99032G>A (p.Trp33011Ter)
c.72926G>A (p.Trp24309Ter)
c.72785G>A (p.Trp24262Ter)
c.98828G>A (p.Trp32943Ter)
c.94226G>A (p.Trp31409Ter)
c.94223G>A (p.Trp31408Ter)
c.91265G>A (p.Trp30422Ter)
c.72881G>A (p.Trp24294Ter)
c.94376G>A (p.Trp31459Ter)
c.94373G>A (p.Trp31458Ter)
c.93806G>A (p.Trp31269Ter)
c.91148G>A (p.Trp30383Ter)
c.91067G>A (p.Trp30356Ter)
c.72830G>A (p.Trp24277Ter)
c.62684G>A (p.Trp20895Ter)
 ClinVar dbSNP
2g.178537175A>CCA349427126TTN,TTN-AS1c.92230T>G (p.Trp30744Gly)
c.73315T>G (p.Trp24439Gly)
c.73114T>G (p.Trp24372Gly)
c.72739T>G (p.Trp24247Gly)
c.99934T>G (p.Trp33312Gly)
c.95011T>G (p.Trp31671Gly)
n.446+13539A>C
n.317-186A>C
c.99031T>G (p.Trp33011Gly)
c.72925T>G (p.Trp24309Gly)
c.72784T>G (p.Trp24262Gly)
c.98827T>G (p.Trp32943Gly)
c.94225T>G (p.Trp31409Gly)
c.94222T>G (p.Trp31408Gly)
c.91264T>G (p.Trp30422Gly)
c.72880T>G (p.Trp24294Gly)
c.94375T>G (p.Trp31459Gly)
c.94372T>G (p.Trp31458Gly)
c.93805T>G (p.Trp31269Gly)
c.91147T>G (p.Trp30383Gly)
c.91066T>G (p.Trp30356Gly)
c.72829T>G (p.Trp24277Gly)
c.62683T>G (p.Trp20895Gly)
2g.178537175A>GCA349427127TTN,TTN-AS1c.92230T>C (p.Trp30744Arg)
c.73315T>C (p.Trp24439Arg)
c.73114T>C (p.Trp24372Arg)
c.72739T>C (p.Trp24247Arg)
c.99934T>C (p.Trp33312Arg)
c.95011T>C (p.Trp31671Arg)
n.446+13539A>G
n.317-186A>G
c.99031T>C (p.Trp33011Arg)
c.72925T>C (p.Trp24309Arg)
c.72784T>C (p.Trp24262Arg)
c.98827T>C (p.Trp32943Arg)
c.94225T>C (p.Trp31409Arg)
c.94222T>C (p.Trp31408Arg)
c.91264T>C (p.Trp30422Arg)
c.72880T>C (p.Trp24294Arg)
c.94375T>C (p.Trp31459Arg)
c.94372T>C (p.Trp31458Arg)
c.93805T>C (p.Trp31269Arg)
c.91147T>C (p.Trp30383Arg)
c.91066T>C (p.Trp30356Arg)
c.72829T>C (p.Trp24277Arg)
c.62683T>C (p.Trp20895Arg)
2g.178537175A>TCA349427128TTN,TTN-AS1c.92230T>A (p.Trp30744Arg)
c.73315T>A (p.Trp24439Arg)
c.73114T>A (p.Trp24372Arg)
c.72739T>A (p.Trp24247Arg)
c.99934T>A (p.Trp33312Arg)
c.95011T>A (p.Trp31671Arg)
n.446+13539A>T
n.317-186A>T
c.99031T>A (p.Trp33011Arg)
c.72925T>A (p.Trp24309Arg)
c.72784T>A (p.Trp24262Arg)
c.98827T>A (p.Trp32943Arg)
c.94225T>A (p.Trp31409Arg)
c.94222T>A (p.Trp31408Arg)
c.91264T>A (p.Trp30422Arg)
c.72880T>A (p.Trp24294Arg)
c.94375T>A (p.Trp31459Arg)
c.94372T>A (p.Trp31458Arg)
c.93805T>A (p.Trp31269Arg)
c.91147T>A (p.Trp30383Arg)
c.91066T>A (p.Trp30356Arg)
c.72829T>A (p.Trp24277Arg)
c.62683T>A (p.Trp20895Arg)
2g.178537176G>ACA1986106TTN,TTN-AS1c.92229C>T (p.Ser30743=)
c.73314C>T (p.Ser24438=)
c.73113C>T (p.Ser24371=)
c.72738C>T (p.Ser24246=)
c.99933C>T (p.Ser33311=)
c.95010C>T (p.Ser31670=)
n.446+13540G>A
n.317-185G>A
c.99030C>T (p.Ser33010=)
c.72924C>T (p.Ser24308=)
c.72783C>T (p.Ser24261=)
c.98826C>T (p.Ser32942=)
c.94224C>T (p.Ser31408=)
c.94221C>T (p.Ser31407=)
c.91263C>T (p.Ser30421=)
c.72879C>T (p.Ser24293=)
c.94374C>T (p.Ser31458=)
c.94371C>T (p.Ser31457=)
c.93804C>T (p.Ser31268=)
c.91146C>T (p.Ser30382=)
c.91065C>T (p.Ser30355=)
c.72828C>T (p.Ser24276=)
c.62682C>T (p.Ser20894=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178537176G>CCA349427129TTN,TTN-AS1c.92229C>G (p.Ser30743Arg)
c.73314C>G (p.Ser24438Arg)
c.73113C>G (p.Ser24371Arg)
c.72738C>G (p.Ser24246Arg)
c.99933C>G (p.Ser33311Arg)
c.95010C>G (p.Ser31670Arg)
n.446+13540G>C
n.317-185G>C
c.99030C>G (p.Ser33010Arg)
c.72924C>G (p.Ser24308Arg)
c.72783C>G (p.Ser24261Arg)
c.98826C>G (p.Ser32942Arg)
c.94224C>G (p.Ser31408Arg)
c.94221C>G (p.Ser31407Arg)
c.91263C>G (p.Ser30421Arg)
c.72879C>G (p.Ser24293Arg)
c.94374C>G (p.Ser31458Arg)
c.94371C>G (p.Ser31457Arg)
c.93804C>G (p.Ser31268Arg)
c.91146C>G (p.Ser30382Arg)
c.91065C>G (p.Ser30355Arg)
c.72828C>G (p.Ser24276Arg)
c.62682C>G (p.Ser20894Arg)
2g.178537176G=CA1310515284TTN,TTN-AS1c.92229C= (p.Ser30743=)
c.73314C= (p.Ser24438=)
c.73113C= (p.Ser24371=)
c.72738C= (p.Ser24246=)
c.99933C= (p.Ser33311=)
c.95010C= (p.Ser31670=)
n.446+13540G=
n.317-185G=
c.99030C= (p.Ser33010=)
c.72924C= (p.Ser24308=)
c.72783C= (p.Ser24261=)
c.98826C= (p.Ser32942=)
c.94224C= (p.Ser31408=)
c.94221C= (p.Ser31407=)
c.91263C= (p.Ser30421=)
c.72879C= (p.Ser24293=)
c.94374C= (p.Ser31458=)
c.94371C= (p.Ser31457=)
c.93804C= (p.Ser31268=)
c.91146C= (p.Ser30382=)
c.91065C= (p.Ser30355=)
c.72828C= (p.Ser24276=)
c.62682C= (p.Ser20894=)
2g.178537176G>TCA349427130TTN,TTN-AS1c.92229C>A (p.Ser30743Arg)
c.73314C>A (p.Ser24438Arg)
c.73113C>A (p.Ser24371Arg)
c.72738C>A (p.Ser24246Arg)
c.99933C>A (p.Ser33311Arg)
c.95010C>A (p.Ser31670Arg)
n.446+13540G>T
n.317-185G>T
c.99030C>A (p.Ser33010Arg)
c.72924C>A (p.Ser24308Arg)
c.72783C>A (p.Ser24261Arg)
c.98826C>A (p.Ser32942Arg)
c.94224C>A (p.Ser31408Arg)
c.94221C>A (p.Ser31407Arg)
c.91263C>A (p.Ser30421Arg)
c.72879C>A (p.Ser24293Arg)
c.94374C>A (p.Ser31458Arg)
c.94371C>A (p.Ser31457Arg)
c.93804C>A (p.Ser31268Arg)
c.91146C>A (p.Ser30382Arg)
c.91065C>A (p.Ser30355Arg)
c.72828C>A (p.Ser24276Arg)
c.62682C>A (p.Ser20894Arg)
2g.178537177C>ACA349427131TTN,TTN-AS1c.92228G>T (p.Ser30743Ile)
c.73313G>T (p.Ser24438Ile)
c.73112G>T (p.Ser24371Ile)
c.72737G>T (p.Ser24246Ile)
c.99932G>T (p.Ser33311Ile)
c.95009G>T (p.Ser31670Ile)
n.446+13541C>A
n.317-184C>A
c.99029G>T (p.Ser33010Ile)
c.72923G>T (p.Ser24308Ile)
c.72782G>T (p.Ser24261Ile)
c.98825G>T (p.Ser32942Ile)
c.94223G>T (p.Ser31408Ile)
c.94220G>T (p.Ser31407Ile)
c.91262G>T (p.Ser30421Ile)
c.72878G>T (p.Ser24293Ile)
c.94373G>T (p.Ser31458Ile)
c.94370G>T (p.Ser31457Ile)
c.93803G>T (p.Ser31268Ile)
c.91145G>T (p.Ser30382Ile)
c.91064G>T (p.Ser30355Ile)
c.72827G>T (p.Ser24276Ile)
c.62681G>T (p.Ser20894Ile)

Number of alleles fetched