Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178584568A=CA1310537077TTN,TTN-AS1c.57279T= (p.Ser19093=)
c.38364T= (p.Ser12788=)
c.38163T= (p.Ser12721=)
c.37788T= (p.Ser12596=)
c.64983T= (p.Ser21661=)
c.60060T= (p.Ser20020=)
n.597-13028A=
n.2768-5A=
c.64080T= (p.Ser21360=)
c.37974T= (p.Ser12658=)
c.37833T= (p.Ser12611=)
c.63876T= (p.Ser21292=)
c.59274T= (p.Ser19758=)
c.59271T= (p.Ser19757=)
c.56313T= (p.Ser18771=)
c.37929T= (p.Ser12643=)
c.59424T= (p.Ser19808=)
c.59421T= (p.Ser19807=)
c.58854T= (p.Ser19618=)
c.56196T= (p.Ser18732=)
c.56115T= (p.Ser18705=)
c.37878T= (p.Ser12626=)
c.27732T= (p.Ser9244=)
2g.178584568A>CCA349435942TTN,TTN-AS1c.57279T>G (p.Ser19093Arg)
c.38364T>G (p.Ser12788Arg)
c.38163T>G (p.Ser12721Arg)
c.37788T>G (p.Ser12596Arg)
c.64983T>G (p.Ser21661Arg)
c.60060T>G (p.Ser20020Arg)
n.597-13028A>C
n.2768-5A>C
c.64080T>G (p.Ser21360Arg)
c.37974T>G (p.Ser12658Arg)
c.37833T>G (p.Ser12611Arg)
c.63876T>G (p.Ser21292Arg)
c.59274T>G (p.Ser19758Arg)
c.59271T>G (p.Ser19757Arg)
c.56313T>G (p.Ser18771Arg)
c.37929T>G (p.Ser12643Arg)
c.59424T>G (p.Ser19808Arg)
c.59421T>G (p.Ser19807Arg)
c.58854T>G (p.Ser19618Arg)
c.56196T>G (p.Ser18732Arg)
c.56115T>G (p.Ser18705Arg)
c.37878T>G (p.Ser12626Arg)
c.27732T>G (p.Ser9244Arg)
2g.178584568A>GCA430263459TTN,TTN-AS1c.57279T>C (p.Ser19093=)
c.38364T>C (p.Ser12788=)
c.38163T>C (p.Ser12721=)
c.37788T>C (p.Ser12596=)
c.64983T>C (p.Ser21661=)
c.60060T>C (p.Ser20020=)
n.597-13028A>G
n.2768-5A>G
c.64080T>C (p.Ser21360=)
c.37974T>C (p.Ser12658=)
c.37833T>C (p.Ser12611=)
c.63876T>C (p.Ser21292=)
c.59274T>C (p.Ser19758=)
c.59271T>C (p.Ser19757=)
c.56313T>C (p.Ser18771=)
c.37929T>C (p.Ser12643=)
c.59424T>C (p.Ser19808=)
c.59421T>C (p.Ser19807=)
c.58854T>C (p.Ser19618=)
c.56196T>C (p.Ser18732=)
c.56115T>C (p.Ser18705=)
c.37878T>C (p.Ser12626=)
c.27732T>C (p.Ser9244=)
 dbSNP
2g.178584568A>TCA349435943TTN,TTN-AS1c.57279T>A (p.Ser19093Arg)
c.38364T>A (p.Ser12788Arg)
c.38163T>A (p.Ser12721Arg)
c.37788T>A (p.Ser12596Arg)
c.64983T>A (p.Ser21661Arg)
c.60060T>A (p.Ser20020Arg)
n.597-13028A>T
n.2768-5A>T
c.64080T>A (p.Ser21360Arg)
c.37974T>A (p.Ser12658Arg)
c.37833T>A (p.Ser12611Arg)
c.63876T>A (p.Ser21292Arg)
c.59274T>A (p.Ser19758Arg)
c.59271T>A (p.Ser19757Arg)
c.56313T>A (p.Ser18771Arg)
c.37929T>A (p.Ser12643Arg)
c.59424T>A (p.Ser19808Arg)
c.59421T>A (p.Ser19807Arg)
c.58854T>A (p.Ser19618Arg)
c.56196T>A (p.Ser18732Arg)
c.56115T>A (p.Ser18705Arg)
c.37878T>A (p.Ser12626Arg)
c.27732T>A (p.Ser9244Arg)
2g.178584569C>ACA349435951TTN,TTN-AS1c.57278G>T (p.Ser19093Ile)
c.38363G>T (p.Ser12788Ile)
c.38162G>T (p.Ser12721Ile)
c.37787G>T (p.Ser12596Ile)
c.64982G>T (p.Ser21661Ile)
c.60059G>T (p.Ser20020Ile)
n.597-13027C>A
n.2768-4C>A
c.64079G>T (p.Ser21360Ile)
c.37973G>T (p.Ser12658Ile)
c.37832G>T (p.Ser12611Ile)
c.63875G>T (p.Ser21292Ile)
c.59273G>T (p.Ser19758Ile)
c.59270G>T (p.Ser19757Ile)
c.56312G>T (p.Ser18771Ile)
c.37928G>T (p.Ser12643Ile)
c.59423G>T (p.Ser19808Ile)
c.59420G>T (p.Ser19807Ile)
c.58853G>T (p.Ser19618Ile)
c.56195G>T (p.Ser18732Ile)
c.56114G>T (p.Ser18705Ile)
c.37877G>T (p.Ser12626Ile)
c.27731G>T (p.Ser9244Ile)
2g.178584569C=CA1310537078TTN,TTN-AS1c.57278G= (p.Ser19093=)
c.38363G= (p.Ser12788=)
c.38162G= (p.Ser12721=)
c.37787G= (p.Ser12596=)
c.64982G= (p.Ser21661=)
c.60059G= (p.Ser20020=)
n.597-13027C=
n.2768-4C=
c.64079G= (p.Ser21360=)
c.37973G= (p.Ser12658=)
c.37832G= (p.Ser12611=)
c.63875G= (p.Ser21292=)
c.59273G= (p.Ser19758=)
c.59270G= (p.Ser19757=)
c.56312G= (p.Ser18771=)
c.37928G= (p.Ser12643=)
c.59423G= (p.Ser19808=)
c.59420G= (p.Ser19807=)
c.58853G= (p.Ser19618=)
c.56195G= (p.Ser18732=)
c.56114G= (p.Ser18705=)
c.37877G= (p.Ser12626=)
c.27731G= (p.Ser9244=)
2g.178584569C>GCA349435953TTN,TTN-AS1c.57278G>C (p.Ser19093Thr)
c.38363G>C (p.Ser12788Thr)
c.38162G>C (p.Ser12721Thr)
c.37787G>C (p.Ser12596Thr)
c.64982G>C (p.Ser21661Thr)
c.60059G>C (p.Ser20020Thr)
n.597-13027C>G
n.2768-4C>G
c.64079G>C (p.Ser21360Thr)
c.37973G>C (p.Ser12658Thr)
c.37832G>C (p.Ser12611Thr)
c.63875G>C (p.Ser21292Thr)
c.59273G>C (p.Ser19758Thr)
c.59270G>C (p.Ser19757Thr)
c.56312G>C (p.Ser18771Thr)
c.37928G>C (p.Ser12643Thr)
c.59423G>C (p.Ser19808Thr)
c.59420G>C (p.Ser19807Thr)
c.58853G>C (p.Ser19618Thr)
c.56195G>C (p.Ser18732Thr)
c.56114G>C (p.Ser18705Thr)
c.37877G>C (p.Ser12626Thr)
c.27731G>C (p.Ser9244Thr)
2g.178584569C>TCA349435954TTN,TTN-AS1c.57278G>A (p.Ser19093Asn)
c.38363G>A (p.Ser12788Asn)
c.38162G>A (p.Ser12721Asn)
c.37787G>A (p.Ser12596Asn)
c.64982G>A (p.Ser21661Asn)
c.60059G>A (p.Ser20020Asn)
n.597-13027C>T
n.2768-4C>T
c.64079G>A (p.Ser21360Asn)
c.37973G>A (p.Ser12658Asn)
c.37832G>A (p.Ser12611Asn)
c.63875G>A (p.Ser21292Asn)
c.59273G>A (p.Ser19758Asn)
c.59270G>A (p.Ser19757Asn)
c.56312G>A (p.Ser18771Asn)
c.37928G>A (p.Ser12643Asn)
c.59423G>A (p.Ser19808Asn)
c.59420G>A (p.Ser19807Asn)
c.58853G>A (p.Ser19618Asn)
c.56195G>A (p.Ser18732Asn)
c.56114G>A (p.Ser18705Asn)
c.37877G>A (p.Ser12626Asn)
c.27731G>A (p.Ser9244Asn)
 dbSNP
2g.178584570T>ACA349435958TTN,TTN-AS1c.57277A>T (p.Ser19093Cys)
c.38362A>T (p.Ser12788Cys)
c.38161A>T (p.Ser12721Cys)
c.37786A>T (p.Ser12596Cys)
c.64981A>T (p.Ser21661Cys)
c.60058A>T (p.Ser20020Cys)
n.597-13026T>A
n.2768-3T>A
c.64078A>T (p.Ser21360Cys)
c.37972A>T (p.Ser12658Cys)
c.37831A>T (p.Ser12611Cys)
c.63874A>T (p.Ser21292Cys)
c.59272A>T (p.Ser19758Cys)
c.59269A>T (p.Ser19757Cys)
c.56311A>T (p.Ser18771Cys)
c.37927A>T (p.Ser12643Cys)
c.59422A>T (p.Ser19808Cys)
c.59419A>T (p.Ser19807Cys)
c.58852A>T (p.Ser19618Cys)
c.56194A>T (p.Ser18732Cys)
c.56113A>T (p.Ser18705Cys)
c.37876A>T (p.Ser12626Cys)
c.27730A>T (p.Ser9244Cys)
2g.178584570T>CCA349435959TTN,TTN-AS1c.57277A>G (p.Ser19093Gly)
c.38362A>G (p.Ser12788Gly)
c.38161A>G (p.Ser12721Gly)
c.37786A>G (p.Ser12596Gly)
c.64981A>G (p.Ser21661Gly)
c.60058A>G (p.Ser20020Gly)
n.597-13026T>C
n.2768-3T>C
c.64078A>G (p.Ser21360Gly)
c.37972A>G (p.Ser12658Gly)
c.37831A>G (p.Ser12611Gly)
c.63874A>G (p.Ser21292Gly)
c.59272A>G (p.Ser19758Gly)
c.59269A>G (p.Ser19757Gly)
c.56311A>G (p.Ser18771Gly)
c.37927A>G (p.Ser12643Gly)
c.59422A>G (p.Ser19808Gly)
c.59419A>G (p.Ser19807Gly)
c.58852A>G (p.Ser19618Gly)
c.56194A>G (p.Ser18732Gly)
c.56113A>G (p.Ser18705Gly)
c.37876A>G (p.Ser12626Gly)
c.27730A>G (p.Ser9244Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178584570T>GCA349435962TTN,TTN-AS1c.57277A>C (p.Ser19093Arg)
c.38362A>C (p.Ser12788Arg)
c.38161A>C (p.Ser12721Arg)
c.37786A>C (p.Ser12596Arg)
c.64981A>C (p.Ser21661Arg)
c.60058A>C (p.Ser20020Arg)
n.597-13026T>G
n.2768-3T>G
c.64078A>C (p.Ser21360Arg)
c.37972A>C (p.Ser12658Arg)
c.37831A>C (p.Ser12611Arg)
c.63874A>C (p.Ser21292Arg)
c.59272A>C (p.Ser19758Arg)
c.59269A>C (p.Ser19757Arg)
c.56311A>C (p.Ser18771Arg)
c.37927A>C (p.Ser12643Arg)
c.59422A>C (p.Ser19808Arg)
c.59419A>C (p.Ser19807Arg)
c.58852A>C (p.Ser19618Arg)
c.56194A>C (p.Ser18732Arg)
c.56113A>C (p.Ser18705Arg)
c.37876A>C (p.Ser12626Arg)
c.27730A>C (p.Ser9244Arg)
2g.178584570T=CA1310537079TTN,TTN-AS1c.57277A= (p.Ser19093=)
c.38362A= (p.Ser12788=)
c.38161A= (p.Ser12721=)
c.37786A= (p.Ser12596=)
c.64981A= (p.Ser21661=)
c.60058A= (p.Ser20020=)
n.597-13026T=
n.2768-3T=
c.64078A= (p.Ser21360=)
c.37972A= (p.Ser12658=)
c.37831A= (p.Ser12611=)
c.63874A= (p.Ser21292=)
c.59272A= (p.Ser19758=)
c.59269A= (p.Ser19757=)
c.56311A= (p.Ser18771=)
c.37927A= (p.Ser12643=)
c.59422A= (p.Ser19808=)
c.59419A= (p.Ser19807=)
c.58852A= (p.Ser19618=)
c.56194A= (p.Ser18732=)
c.56113A= (p.Ser18705=)
c.37876A= (p.Ser12626=)
c.27730A= (p.Ser9244=)
2g.178584571A=CA1310537080TTN,TTN-AS1c.57276T= (p.Pro19092=)
c.38361T= (p.Pro12787=)
c.38160T= (p.Pro12720=)
c.37785T= (p.Pro12595=)
c.64980T= (p.Pro21660=)
c.60057T= (p.Pro20019=)
n.597-13025A=
n.2768-2A=
c.64077T= (p.Pro21359=)
c.37971T= (p.Pro12657=)
c.37830T= (p.Pro12610=)
c.63873T= (p.Pro21291=)
c.59271T= (p.Pro19757=)
c.59268T= (p.Pro19756=)
c.56310T= (p.Pro18770=)
c.37926T= (p.Pro12642=)
c.59421T= (p.Pro19807=)
c.59418T= (p.Pro19806=)
c.58851T= (p.Pro19617=)
c.56193T= (p.Pro18731=)
c.56112T= (p.Pro18704=)
c.37875T= (p.Pro12625=)
c.27729T= (p.Pro9243=)
2g.178584571A>CCA60962044TTN,TTN-AS1c.57276T>G (p.Pro19092=)
c.38361T>G (p.Pro12787=)
c.38160T>G (p.Pro12720=)
c.37785T>G (p.Pro12595=)
c.64980T>G (p.Pro21660=)
c.60057T>G (p.Pro20019=)
n.597-13025A>C
n.2768-2A>C
c.64077T>G (p.Pro21359=)
c.37971T>G (p.Pro12657=)
c.37830T>G (p.Pro12610=)
c.63873T>G (p.Pro21291=)
c.59271T>G (p.Pro19757=)
c.59268T>G (p.Pro19756=)
c.56310T>G (p.Pro18770=)
c.37926T>G (p.Pro12642=)
c.59421T>G (p.Pro19807=)
c.59418T>G (p.Pro19806=)
c.58851T>G (p.Pro19617=)
c.56193T>G (p.Pro18731=)
c.56112T>G (p.Pro18704=)
c.37875T>G (p.Pro12625=)
c.27729T>G (p.Pro9243=)
 dbSNP gnomAD v2 gnomAD v4
2g.178584571A>GCA430263464TTN,TTN-AS1c.57276T>C (p.Pro19092=)
c.38361T>C (p.Pro12787=)
c.38160T>C (p.Pro12720=)
c.37785T>C (p.Pro12595=)
c.64980T>C (p.Pro21660=)
c.60057T>C (p.Pro20019=)
n.597-13025A>G
n.2768-2A>G
c.64077T>C (p.Pro21359=)
c.37971T>C (p.Pro12657=)
c.37830T>C (p.Pro12610=)
c.63873T>C (p.Pro21291=)
c.59271T>C (p.Pro19757=)
c.59268T>C (p.Pro19756=)
c.56310T>C (p.Pro18770=)
c.37926T>C (p.Pro12642=)
c.59421T>C (p.Pro19807=)
c.59418T>C (p.Pro19806=)
c.58851T>C (p.Pro19617=)
c.56193T>C (p.Pro18731=)
c.56112T>C (p.Pro18704=)
c.37875T>C (p.Pro12625=)
c.27729T>C (p.Pro9243=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178584571A>TCA430263465TTN,TTN-AS1c.57276T>A (p.Pro19092=)
c.38361T>A (p.Pro12787=)
c.38160T>A (p.Pro12720=)
c.37785T>A (p.Pro12595=)
c.64980T>A (p.Pro21660=)
c.60057T>A (p.Pro20019=)
n.597-13025A>T
n.2768-2A>T
c.64077T>A (p.Pro21359=)
c.37971T>A (p.Pro12657=)
c.37830T>A (p.Pro12610=)
c.63873T>A (p.Pro21291=)
c.59271T>A (p.Pro19757=)
c.59268T>A (p.Pro19756=)
c.56310T>A (p.Pro18770=)
c.37926T>A (p.Pro12642=)
c.59421T>A (p.Pro19807=)
c.59418T>A (p.Pro19806=)
c.58851T>A (p.Pro19617=)
c.56193T>A (p.Pro18731=)
c.56112T>A (p.Pro18704=)
c.37875T>A (p.Pro12625=)
c.27729T>A (p.Pro9243=)
2g.178584572G>ACA349435969TTN,TTN-AS1c.57275C>T (p.Pro19092Leu)
c.38360C>T (p.Pro12787Leu)
c.38159C>T (p.Pro12720Leu)
c.37784C>T (p.Pro12595Leu)
c.64979C>T (p.Pro21660Leu)
c.60056C>T (p.Pro20019Leu)
n.597-13024G>A
n.2768-1G>A
c.64076C>T (p.Pro21359Leu)
c.37970C>T (p.Pro12657Leu)
c.37829C>T (p.Pro12610Leu)
c.63872C>T (p.Pro21291Leu)
c.59270C>T (p.Pro19757Leu)
c.59267C>T (p.Pro19756Leu)
c.56309C>T (p.Pro18770Leu)
c.37925C>T (p.Pro12642Leu)
c.59420C>T (p.Pro19807Leu)
c.59417C>T (p.Pro19806Leu)
c.58850C>T (p.Pro19617Leu)
c.56192C>T (p.Pro18731Leu)
c.56111C>T (p.Pro18704Leu)
c.37874C>T (p.Pro12625Leu)
c.27728C>T (p.Pro9243Leu)
2g.178584572G>CCA349435967TTN,TTN-AS1c.57275C>G (p.Pro19092Arg)
c.38360C>G (p.Pro12787Arg)
c.38159C>G (p.Pro12720Arg)
c.37784C>G (p.Pro12595Arg)
c.64979C>G (p.Pro21660Arg)
c.60056C>G (p.Pro20019Arg)
n.597-13024G>C
n.2768-1G>C
c.64076C>G (p.Pro21359Arg)
c.37970C>G (p.Pro12657Arg)
c.37829C>G (p.Pro12610Arg)
c.63872C>G (p.Pro21291Arg)
c.59270C>G (p.Pro19757Arg)
c.59267C>G (p.Pro19756Arg)
c.56309C>G (p.Pro18770Arg)
c.37925C>G (p.Pro12642Arg)
c.59420C>G (p.Pro19807Arg)
c.59417C>G (p.Pro19806Arg)
c.58850C>G (p.Pro19617Arg)
c.56192C>G (p.Pro18731Arg)
c.56111C>G (p.Pro18704Arg)
c.37874C>G (p.Pro12625Arg)
c.27728C>G (p.Pro9243Arg)
2g.178584572G=CA1310537081TTN,TTN-AS1c.57275C= (p.Pro19092=)
c.38360C= (p.Pro12787=)
c.38159C= (p.Pro12720=)
c.37784C= (p.Pro12595=)
c.64979C= (p.Pro21660=)
c.60056C= (p.Pro20019=)
n.597-13024G=
n.2768-1G=
c.64076C= (p.Pro21359=)
c.37970C= (p.Pro12657=)
c.37829C= (p.Pro12610=)
c.63872C= (p.Pro21291=)
c.59270C= (p.Pro19757=)
c.59267C= (p.Pro19756=)
c.56309C= (p.Pro18770=)
c.37925C= (p.Pro12642=)
c.59420C= (p.Pro19807=)
c.59417C= (p.Pro19806=)
c.58850C= (p.Pro19617=)
c.56192C= (p.Pro18731=)
c.56111C= (p.Pro18704=)
c.37874C= (p.Pro12625=)
c.27728C= (p.Pro9243=)
2g.178584572G>TCA60962048TTN,TTN-AS1c.57275C>A (p.Pro19092His)
c.38360C>A (p.Pro12787His)
c.38159C>A (p.Pro12720His)
c.37784C>A (p.Pro12595His)
c.64979C>A (p.Pro21660His)
c.60056C>A (p.Pro20019His)
n.597-13024G>T
n.2768-1G>T
c.64076C>A (p.Pro21359His)
c.37970C>A (p.Pro12657His)
c.37829C>A (p.Pro12610His)
c.63872C>A (p.Pro21291His)
c.59270C>A (p.Pro19757His)
c.59267C>A (p.Pro19756His)
c.56309C>A (p.Pro18770His)
c.37925C>A (p.Pro12642His)
c.59420C>A (p.Pro19807His)
c.59417C>A (p.Pro19806His)
c.58850C>A (p.Pro19617His)
c.56192C>A (p.Pro18731His)
c.56111C>A (p.Pro18704His)
c.37874C>A (p.Pro12625His)
c.27728C>A (p.Pro9243His)
 dbSNP gnomAD v2 gnomAD v4
2g.178584573G>ACA349435970TTN,TTN-AS1c.57274C>T (p.Pro19092Ser)
c.38359C>T (p.Pro12787Ser)
c.38158C>T (p.Pro12720Ser)
c.37783C>T (p.Pro12595Ser)
c.64978C>T (p.Pro21660Ser)
c.60055C>T (p.Pro20019Ser)
n.597-13023G>A
n.2768G>A
c.64075C>T (p.Pro21359Ser)
c.37969C>T (p.Pro12657Ser)
c.37828C>T (p.Pro12610Ser)
c.63871C>T (p.Pro21291Ser)
c.59269C>T (p.Pro19757Ser)
c.59266C>T (p.Pro19756Ser)
c.56308C>T (p.Pro18770Ser)
c.37924C>T (p.Pro12642Ser)
c.59419C>T (p.Pro19807Ser)
c.59416C>T (p.Pro19806Ser)
c.58849C>T (p.Pro19617Ser)
c.56191C>T (p.Pro18731Ser)
c.56110C>T (p.Pro18704Ser)
c.37873C>T (p.Pro12625Ser)
c.27727C>T (p.Pro9243Ser)
 COSMIC COSMIC COSMIC COSMIC
2g.178584573G>CCA349435972TTN,TTN-AS1c.57274C>G (p.Pro19092Ala)
c.38359C>G (p.Pro12787Ala)
c.38158C>G (p.Pro12720Ala)
c.37783C>G (p.Pro12595Ala)
c.64978C>G (p.Pro21660Ala)
c.60055C>G (p.Pro20019Ala)
n.597-13023G>C
n.2768G>C
c.64075C>G (p.Pro21359Ala)
c.37969C>G (p.Pro12657Ala)
c.37828C>G (p.Pro12610Ala)
c.63871C>G (p.Pro21291Ala)
c.59269C>G (p.Pro19757Ala)
c.59266C>G (p.Pro19756Ala)
c.56308C>G (p.Pro18770Ala)
c.37924C>G (p.Pro12642Ala)
c.59419C>G (p.Pro19807Ala)
c.59416C>G (p.Pro19806Ala)
c.58849C>G (p.Pro19617Ala)
c.56191C>G (p.Pro18731Ala)
c.56110C>G (p.Pro18704Ala)
c.37873C>G (p.Pro12625Ala)
c.27727C>G (p.Pro9243Ala)
2g.178584573G=CA1310537082TTN,TTN-AS1c.57274C= (p.Pro19092=)
c.38359C= (p.Pro12787=)
c.38158C= (p.Pro12720=)
c.37783C= (p.Pro12595=)
c.64978C= (p.Pro21660=)
c.60055C= (p.Pro20019=)
n.597-13023G=
n.2768G=
c.64075C= (p.Pro21359=)
c.37969C= (p.Pro12657=)
c.37828C= (p.Pro12610=)
c.63871C= (p.Pro21291=)
c.59269C= (p.Pro19757=)
c.59266C= (p.Pro19756=)
c.56308C= (p.Pro18770=)
c.37924C= (p.Pro12642=)
c.59419C= (p.Pro19807=)
c.59416C= (p.Pro19806=)
c.58849C= (p.Pro19617=)
c.56191C= (p.Pro18731=)
c.56110C= (p.Pro18704=)
c.37873C= (p.Pro12625=)
c.27727C= (p.Pro9243=)
2g.178584573G>TCA349435974TTN,TTN-AS1c.57274C>A (p.Pro19092Thr)
c.38359C>A (p.Pro12787Thr)
c.38158C>A (p.Pro12720Thr)
c.37783C>A (p.Pro12595Thr)
c.64978C>A (p.Pro21660Thr)
c.60055C>A (p.Pro20019Thr)
n.597-13023G>T
n.2768G>T
c.64075C>A (p.Pro21359Thr)
c.37969C>A (p.Pro12657Thr)
c.37828C>A (p.Pro12610Thr)
c.63871C>A (p.Pro21291Thr)
c.59269C>A (p.Pro19757Thr)
c.59266C>A (p.Pro19756Thr)
c.56308C>A (p.Pro18770Thr)
c.37924C>A (p.Pro12642Thr)
c.59419C>A (p.Pro19807Thr)
c.59416C>A (p.Pro19806Thr)
c.58849C>A (p.Pro19617Thr)
c.56191C>A (p.Pro18731Thr)
c.56110C>A (p.Pro18704Thr)
c.37873C>A (p.Pro12625Thr)
c.27727C>A (p.Pro9243Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.178584574A>CCA430263472TTN,TTN-AS1c.57273T>G (p.Val19091=)
c.38358T>G (p.Val12786=)
c.38157T>G (p.Val12719=)
c.37782T>G (p.Val12594=)
c.64977T>G (p.Val21659=)
c.60054T>G (p.Val20018=)
n.597-13022A>C
n.2769A>C
c.64074T>G (p.Val21358=)
c.37968T>G (p.Val12656=)
c.37827T>G (p.Val12609=)
c.63870T>G (p.Val21290=)
c.59268T>G (p.Val19756=)
c.59265T>G (p.Val19755=)
c.56307T>G (p.Val18769=)
c.37923T>G (p.Val12641=)
c.59418T>G (p.Val19806=)
c.59415T>G (p.Val19805=)
c.58848T>G (p.Val19616=)
c.56190T>G (p.Val18730=)
c.56109T>G (p.Val18703=)
c.37872T>G (p.Val12624=)
c.27726T>G (p.Val9242=)
2g.178584574A>GCA430263473TTN,TTN-AS1c.57273T>C (p.Val19091=)
c.38358T>C (p.Val12786=)
c.38157T>C (p.Val12719=)
c.37782T>C (p.Val12594=)
c.64977T>C (p.Val21659=)
c.60054T>C (p.Val20018=)
n.597-13022A>G
n.2769A>G
c.64074T>C (p.Val21358=)
c.37968T>C (p.Val12656=)
c.37827T>C (p.Val12609=)
c.63870T>C (p.Val21290=)
c.59268T>C (p.Val19756=)
c.59265T>C (p.Val19755=)
c.56307T>C (p.Val18769=)
c.37923T>C (p.Val12641=)
c.59418T>C (p.Val19806=)
c.59415T>C (p.Val19805=)
c.58848T>C (p.Val19616=)
c.56190T>C (p.Val18730=)
c.56109T>C (p.Val18703=)
c.37872T>C (p.Val12624=)
c.27726T>C (p.Val9242=)
2g.178584574A>TCA430263474TTN,TTN-AS1c.57273T>A (p.Val19091=)
c.38358T>A (p.Val12786=)
c.38157T>A (p.Val12719=)
c.37782T>A (p.Val12594=)
c.64977T>A (p.Val21659=)
c.60054T>A (p.Val20018=)
n.597-13022A>T
n.2769A>T
c.64074T>A (p.Val21358=)
c.37968T>A (p.Val12656=)
c.37827T>A (p.Val12609=)
c.63870T>A (p.Val21290=)
c.59268T>A (p.Val19756=)
c.59265T>A (p.Val19755=)
c.56307T>A (p.Val18769=)
c.37923T>A (p.Val12641=)
c.59418T>A (p.Val19806=)
c.59415T>A (p.Val19805=)
c.58848T>A (p.Val19616=)
c.56190T>A (p.Val18730=)
c.56109T>A (p.Val18703=)
c.37872T>A (p.Val12624=)
c.27726T>A (p.Val9242=)
2g.178584575A>CCA349435977TTN,TTN-AS1c.57272T>G (p.Val19091Gly)
c.38357T>G (p.Val12786Gly)
c.38156T>G (p.Val12719Gly)
c.37781T>G (p.Val12594Gly)
c.64976T>G (p.Val21659Gly)
c.60053T>G (p.Val20018Gly)
n.597-13021A>C
n.2770A>C
c.64073T>G (p.Val21358Gly)
c.37967T>G (p.Val12656Gly)
c.37826T>G (p.Val12609Gly)
c.63869T>G (p.Val21290Gly)
c.59267T>G (p.Val19756Gly)
c.59264T>G (p.Val19755Gly)
c.56306T>G (p.Val18769Gly)
c.37922T>G (p.Val12641Gly)
c.59417T>G (p.Val19806Gly)
c.59414T>G (p.Val19805Gly)
c.58847T>G (p.Val19616Gly)
c.56189T>G (p.Val18730Gly)
c.56108T>G (p.Val18703Gly)
c.37871T>G (p.Val12624Gly)
c.27725T>G (p.Val9242Gly)
2g.178584575A>GCA349435979TTN,TTN-AS1c.57272T>C (p.Val19091Ala)
c.38357T>C (p.Val12786Ala)
c.38156T>C (p.Val12719Ala)
c.37781T>C (p.Val12594Ala)
c.64976T>C (p.Val21659Ala)
c.60053T>C (p.Val20018Ala)
n.597-13021A>G
n.2770A>G
c.64073T>C (p.Val21358Ala)
c.37967T>C (p.Val12656Ala)
c.37826T>C (p.Val12609Ala)
c.63869T>C (p.Val21290Ala)
c.59267T>C (p.Val19756Ala)
c.59264T>C (p.Val19755Ala)
c.56306T>C (p.Val18769Ala)
c.37922T>C (p.Val12641Ala)
c.59417T>C (p.Val19806Ala)
c.59414T>C (p.Val19805Ala)
c.58847T>C (p.Val19616Ala)
c.56189T>C (p.Val18730Ala)
c.56108T>C (p.Val18703Ala)
c.37871T>C (p.Val12624Ala)
c.27725T>C (p.Val9242Ala)
2g.178584575A>TCA349435981TTN,TTN-AS1c.57272T>A (p.Val19091Asp)
c.38357T>A (p.Val12786Asp)
c.38156T>A (p.Val12719Asp)
c.37781T>A (p.Val12594Asp)
c.64976T>A (p.Val21659Asp)
c.60053T>A (p.Val20018Asp)
n.597-13021A>T
n.2770A>T
c.64073T>A (p.Val21358Asp)
c.37967T>A (p.Val12656Asp)
c.37826T>A (p.Val12609Asp)
c.63869T>A (p.Val21290Asp)
c.59267T>A (p.Val19756Asp)
c.59264T>A (p.Val19755Asp)
c.56306T>A (p.Val18769Asp)
c.37922T>A (p.Val12641Asp)
c.59417T>A (p.Val19806Asp)
c.59414T>A (p.Val19805Asp)
c.58847T>A (p.Val19616Asp)
c.56189T>A (p.Val18730Asp)
c.56108T>A (p.Val18703Asp)
c.37871T>A (p.Val12624Asp)
c.27725T>A (p.Val9242Asp)
2g.178584576C>ACA349435983TTN,TTN-AS1c.57271G>T (p.Val19091Phe)
c.38356G>T (p.Val12786Phe)
c.38155G>T (p.Val12719Phe)
c.37780G>T (p.Val12594Phe)
c.64975G>T (p.Val21659Phe)
c.60052G>T (p.Val20018Phe)
n.597-13020C>A
n.2771C>A
c.64072G>T (p.Val21358Phe)
c.37966G>T (p.Val12656Phe)
c.37825G>T (p.Val12609Phe)
c.63868G>T (p.Val21290Phe)
c.59266G>T (p.Val19756Phe)
c.59263G>T (p.Val19755Phe)
c.56305G>T (p.Val18769Phe)
c.37921G>T (p.Val12641Phe)
c.59416G>T (p.Val19806Phe)
c.59413G>T (p.Val19805Phe)
c.58846G>T (p.Val19616Phe)
c.56188G>T (p.Val18730Phe)
c.56107G>T (p.Val18703Phe)
c.37870G>T (p.Val12624Phe)
c.27724G>T (p.Val9242Phe)
2g.178584576C>GCA349435984TTN,TTN-AS1c.57271G>C (p.Val19091Leu)
c.38356G>C (p.Val12786Leu)
c.38155G>C (p.Val12719Leu)
c.37780G>C (p.Val12594Leu)
c.64975G>C (p.Val21659Leu)
c.60052G>C (p.Val20018Leu)
n.597-13020C>G
n.2771C>G
c.64072G>C (p.Val21358Leu)
c.37966G>C (p.Val12656Leu)
c.37825G>C (p.Val12609Leu)
c.63868G>C (p.Val21290Leu)
c.59266G>C (p.Val19756Leu)
c.59263G>C (p.Val19755Leu)
c.56305G>C (p.Val18769Leu)
c.37921G>C (p.Val12641Leu)
c.59416G>C (p.Val19806Leu)
c.59413G>C (p.Val19805Leu)
c.58846G>C (p.Val19616Leu)
c.56188G>C (p.Val18730Leu)
c.56107G>C (p.Val18703Leu)
c.37870G>C (p.Val12624Leu)
c.27724G>C (p.Val9242Leu)
2g.178584576C>TCA349435986TTN,TTN-AS1c.57271G>A (p.Val19091Ile)
c.38356G>A (p.Val12786Ile)
c.38155G>A (p.Val12719Ile)
c.37780G>A (p.Val12594Ile)
c.64975G>A (p.Val21659Ile)
c.60052G>A (p.Val20018Ile)
n.597-13020C>T
n.2771C>T
c.64072G>A (p.Val21358Ile)
c.37966G>A (p.Val12656Ile)
c.37825G>A (p.Val12609Ile)
c.63868G>A (p.Val21290Ile)
c.59266G>A (p.Val19756Ile)
c.59263G>A (p.Val19755Ile)
c.56305G>A (p.Val18769Ile)
c.37921G>A (p.Val12641Ile)
c.59416G>A (p.Val19806Ile)
c.59413G>A (p.Val19805Ile)
c.58846G>A (p.Val19616Ile)
c.56188G>A (p.Val18730Ile)
c.56107G>A (p.Val18703Ile)
c.37870G>A (p.Val12624Ile)
c.27724G>A (p.Val9242Ile)
2g.178584577A>CCA430263477TTN,TTN-AS1c.57270T>G (p.Gly19090=)
c.38355T>G (p.Gly12785=)
c.38154T>G (p.Gly12718=)
c.37779T>G (p.Gly12593=)
c.64974T>G (p.Gly21658=)
c.60051T>G (p.Gly20017=)
n.597-13019A>C
n.2772A>C
c.64071T>G (p.Gly21357=)
c.37965T>G (p.Gly12655=)
c.37824T>G (p.Gly12608=)
c.63867T>G (p.Gly21289=)
c.59265T>G (p.Gly19755=)
c.59262T>G (p.Gly19754=)
c.56304T>G (p.Gly18768=)
c.37920T>G (p.Gly12640=)
c.59415T>G (p.Gly19805=)
c.59412T>G (p.Gly19804=)
c.58845T>G (p.Gly19615=)
c.56187T>G (p.Gly18729=)
c.56106T>G (p.Gly18702=)
c.37869T>G (p.Gly12623=)
c.27723T>G (p.Gly9241=)
2g.178584577A>GCA430263478TTN,TTN-AS1c.57270T>C (p.Gly19090=)
c.38355T>C (p.Gly12785=)
c.38154T>C (p.Gly12718=)
c.37779T>C (p.Gly12593=)
c.64974T>C (p.Gly21658=)
c.60051T>C (p.Gly20017=)
n.597-13019A>G
n.2772A>G
c.64071T>C (p.Gly21357=)
c.37965T>C (p.Gly12655=)
c.37824T>C (p.Gly12608=)
c.63867T>C (p.Gly21289=)
c.59265T>C (p.Gly19755=)
c.59262T>C (p.Gly19754=)
c.56304T>C (p.Gly18768=)
c.37920T>C (p.Gly12640=)
c.59415T>C (p.Gly19805=)
c.59412T>C (p.Gly19804=)
c.58845T>C (p.Gly19615=)
c.56187T>C (p.Gly18729=)
c.56106T>C (p.Gly18702=)
c.37869T>C (p.Gly12623=)
c.27723T>C (p.Gly9241=)
2g.178584577A>TCA430263479TTN,TTN-AS1c.57270T>A (p.Gly19090=)
c.38355T>A (p.Gly12785=)
c.38154T>A (p.Gly12718=)
c.37779T>A (p.Gly12593=)
c.64974T>A (p.Gly21658=)
c.60051T>A (p.Gly20017=)
n.597-13019A>T
n.2772A>T
c.64071T>A (p.Gly21357=)
c.37965T>A (p.Gly12655=)
c.37824T>A (p.Gly12608=)
c.63867T>A (p.Gly21289=)
c.59265T>A (p.Gly19755=)
c.59262T>A (p.Gly19754=)
c.56304T>A (p.Gly18768=)
c.37920T>A (p.Gly12640=)
c.59415T>A (p.Gly19805=)
c.59412T>A (p.Gly19804=)
c.58845T>A (p.Gly19615=)
c.56187T>A (p.Gly18729=)
c.56106T>A (p.Gly18702=)
c.37869T>A (p.Gly12623=)
c.27723T>A (p.Gly9241=)
2g.178584578C>ACA349435989TTN,TTN-AS1c.57269G>T (p.Gly19090Val)
c.38354G>T (p.Gly12785Val)
c.38153G>T (p.Gly12718Val)
c.37778G>T (p.Gly12593Val)
c.64973G>T (p.Gly21658Val)
c.60050G>T (p.Gly20017Val)
n.597-13018C>A
n.2773C>A
c.64070G>T (p.Gly21357Val)
c.37964G>T (p.Gly12655Val)
c.37823G>T (p.Gly12608Val)
c.63866G>T (p.Gly21289Val)
c.59264G>T (p.Gly19755Val)
c.59261G>T (p.Gly19754Val)
c.56303G>T (p.Gly18768Val)
c.37919G>T (p.Gly12640Val)
c.59414G>T (p.Gly19805Val)
c.59411G>T (p.Gly19804Val)
c.58844G>T (p.Gly19615Val)
c.56186G>T (p.Gly18729Val)
c.56105G>T (p.Gly18702Val)
c.37868G>T (p.Gly12623Val)
c.27722G>T (p.Gly9241Val)
2g.178584578C=CA1310537083TTN,TTN-AS1c.57269G= (p.Gly19090=)
c.38354G= (p.Gly12785=)
c.38153G= (p.Gly12718=)
c.37778G= (p.Gly12593=)
c.64973G= (p.Gly21658=)
c.60050G= (p.Gly20017=)
n.597-13018C=
n.2773C=
c.64070G= (p.Gly21357=)
c.37964G= (p.Gly12655=)
c.37823G= (p.Gly12608=)
c.63866G= (p.Gly21289=)
c.59264G= (p.Gly19755=)
c.59261G= (p.Gly19754=)
c.56303G= (p.Gly18768=)
c.37919G= (p.Gly12640=)
c.59414G= (p.Gly19805=)
c.59411G= (p.Gly19804=)
c.58844G= (p.Gly19615=)
c.56186G= (p.Gly18729=)
c.56105G= (p.Gly18702=)
c.37868G= (p.Gly12623=)
c.27722G= (p.Gly9241=)
2g.178584578C>GCA349435991TTN,TTN-AS1c.57269G>C (p.Gly19090Ala)
c.38354G>C (p.Gly12785Ala)
c.38153G>C (p.Gly12718Ala)
c.37778G>C (p.Gly12593Ala)
c.64973G>C (p.Gly21658Ala)
c.60050G>C (p.Gly20017Ala)
n.597-13018C>G
n.2773C>G
c.64070G>C (p.Gly21357Ala)
c.37964G>C (p.Gly12655Ala)
c.37823G>C (p.Gly12608Ala)
c.63866G>C (p.Gly21289Ala)
c.59264G>C (p.Gly19755Ala)
c.59261G>C (p.Gly19754Ala)
c.56303G>C (p.Gly18768Ala)
c.37919G>C (p.Gly12640Ala)
c.59414G>C (p.Gly19805Ala)
c.59411G>C (p.Gly19804Ala)
c.58844G>C (p.Gly19615Ala)
c.56186G>C (p.Gly18729Ala)
c.56105G>C (p.Gly18702Ala)
c.37868G>C (p.Gly12623Ala)
c.27722G>C (p.Gly9241Ala)
 dbSNP gnomAD v4
2g.178584578C>TCA1991802TTN,TTN-AS1c.57269G>A (p.Gly19090Asp)
c.38354G>A (p.Gly12785Asp)
c.38153G>A (p.Gly12718Asp)
c.37778G>A (p.Gly12593Asp)
c.64973G>A (p.Gly21658Asp)
c.60050G>A (p.Gly20017Asp)
n.597-13018C>T
n.2773C>T
c.64070G>A (p.Gly21357Asp)
c.37964G>A (p.Gly12655Asp)
c.37823G>A (p.Gly12608Asp)
c.63866G>A (p.Gly21289Asp)
c.59264G>A (p.Gly19755Asp)
c.59261G>A (p.Gly19754Asp)
c.56303G>A (p.Gly18768Asp)
c.37919G>A (p.Gly12640Asp)
c.59414G>A (p.Gly19805Asp)
c.59411G>A (p.Gly19804Asp)
c.58844G>A (p.Gly19615Asp)
c.56186G>A (p.Gly18729Asp)
c.56105G>A (p.Gly18702Asp)
c.37868G>A (p.Gly12623Asp)
c.27722G>A (p.Gly9241Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178584579C>ACA349435997TTN,TTN-AS1c.57269-1G>T (n.57269-1G>T)
c.38354-1G>T (n.38354-1G>T)
c.38153-1G>T (n.38153-1G>T)
c.37778-1G>T (n.37778-1G>T)
c.64973-1G>T (n.64973-1G>T)
c.60050-1G>T (n.60050-1G>T)
n.597-13017C>A
n.2774C>A
c.64070-1G>T (n.64070-1G>T)
c.37964-1G>T (n.37964-1G>T)
c.37823-1G>T (n.37823-1G>T)
c.63866-1G>T (n.63866-1G>T)
c.59264-1G>T (n.59264-1G>T)
c.59261-1G>T (n.59261-1G>T)
c.56303-1G>T (n.56303-1G>T)
c.37919-1G>T (n.37919-1G>T)
c.59414-1G>T (n.59414-1G>T)
c.59411-1G>T (n.59411-1G>T)
c.58844-1G>T (n.58844-1G>T)
c.56186-1G>T (n.56186-1G>T)
c.56105-1G>T (n.56105-1G>T)
c.37868-1G>T (n.37868-1G>T)
c.27722-1G>T (n.27722-1G>T)
2g.178584579C>GCA349435999TTN,TTN-AS1c.57269-1G>C (n.57269-1G>C)
c.38354-1G>C (n.38354-1G>C)
c.38153-1G>C (n.38153-1G>C)
c.37778-1G>C (n.37778-1G>C)
c.64973-1G>C (n.64973-1G>C)
c.60050-1G>C (n.60050-1G>C)
n.597-13017C>G
n.2774C>G
c.64070-1G>C (n.64070-1G>C)
c.37964-1G>C (n.37964-1G>C)
c.37823-1G>C (n.37823-1G>C)
c.63866-1G>C (n.63866-1G>C)
c.59264-1G>C (n.59264-1G>C)
c.59261-1G>C (n.59261-1G>C)
c.56303-1G>C (n.56303-1G>C)
c.37919-1G>C (n.37919-1G>C)
c.59414-1G>C (n.59414-1G>C)
c.59411-1G>C (n.59411-1G>C)
c.58844-1G>C (n.58844-1G>C)
c.56186-1G>C (n.56186-1G>C)
c.56105-1G>C (n.56105-1G>C)
c.37868-1G>C (n.37868-1G>C)
c.27722-1G>C (n.27722-1G>C)
 ClinVar dbSNP
2g.178584579C>TCA349435996TTN,TTN-AS1c.57269-1G>A (n.57269-1G>A)
c.38354-1G>A (n.38354-1G>A)
c.38153-1G>A (n.38153-1G>A)
c.37778-1G>A (n.37778-1G>A)
c.64973-1G>A (n.64973-1G>A)
c.60050-1G>A (n.60050-1G>A)
n.597-13017C>T
n.2774C>T
c.64070-1G>A (n.64070-1G>A)
c.37964-1G>A (n.37964-1G>A)
c.37823-1G>A (n.37823-1G>A)
c.63866-1G>A (n.63866-1G>A)
c.59264-1G>A (n.59264-1G>A)
c.59261-1G>A (n.59261-1G>A)
c.56303-1G>A (n.56303-1G>A)
c.37919-1G>A (n.37919-1G>A)
c.59414-1G>A (n.59414-1G>A)
c.59411-1G>A (n.59411-1G>A)
c.58844-1G>A (n.58844-1G>A)
c.56186-1G>A (n.56186-1G>A)
c.56105-1G>A (n.56105-1G>A)
c.37868-1G>A (n.37868-1G>A)
c.27722-1G>A (n.27722-1G>A)
2g.178584580T>ACA349436002TTN,TTN-AS1c.57269-2A>T (n.57269-2A>T)
c.38354-2A>T (n.38354-2A>T)
c.38153-2A>T (n.38153-2A>T)
c.37778-2A>T (n.37778-2A>T)
c.64973-2A>T (n.64973-2A>T)
c.60050-2A>T (n.60050-2A>T)
n.597-13016T>A
n.2775T>A
c.64070-2A>T (n.64070-2A>T)
c.37964-2A>T (n.37964-2A>T)
c.37823-2A>T (n.37823-2A>T)
c.63866-2A>T (n.63866-2A>T)
c.59264-2A>T (n.59264-2A>T)
c.59261-2A>T (n.59261-2A>T)
c.56303-2A>T (n.56303-2A>T)
c.37919-2A>T (n.37919-2A>T)
c.59414-2A>T (n.59414-2A>T)
c.59411-2A>T (n.59411-2A>T)
c.58844-2A>T (n.58844-2A>T)
c.56186-2A>T (n.56186-2A>T)
c.56105-2A>T (n.56105-2A>T)
c.37868-2A>T (n.37868-2A>T)
c.27722-2A>T (n.27722-2A>T)
2g.178584580T>CCA349436004TTN,TTN-AS1c.57269-2A>G (n.57269-2A>G)
c.38354-2A>G (n.38354-2A>G)
c.38153-2A>G (n.38153-2A>G)
c.37778-2A>G (n.37778-2A>G)
c.64973-2A>G (n.64973-2A>G)
c.60050-2A>G (n.60050-2A>G)
n.597-13016T>C
n.2775T>C
c.64070-2A>G (n.64070-2A>G)
c.37964-2A>G (n.37964-2A>G)
c.37823-2A>G (n.37823-2A>G)
c.63866-2A>G (n.63866-2A>G)
c.59264-2A>G (n.59264-2A>G)
c.59261-2A>G (n.59261-2A>G)
c.56303-2A>G (n.56303-2A>G)
c.37919-2A>G (n.37919-2A>G)
c.59414-2A>G (n.59414-2A>G)
c.59411-2A>G (n.59411-2A>G)
c.58844-2A>G (n.58844-2A>G)
c.56186-2A>G (n.56186-2A>G)
c.56105-2A>G (n.56105-2A>G)
c.37868-2A>G (n.37868-2A>G)
c.27722-2A>G (n.27722-2A>G)
2g.178584580T>GCA349436006TTN,TTN-AS1c.57269-2A>C (n.57269-2A>C)
c.38354-2A>C (n.38354-2A>C)
c.38153-2A>C (n.38153-2A>C)
c.37778-2A>C (n.37778-2A>C)
c.64973-2A>C (n.64973-2A>C)
c.60050-2A>C (n.60050-2A>C)
n.597-13016T>G
n.2775T>G
c.64070-2A>C (n.64070-2A>C)
c.37964-2A>C (n.37964-2A>C)
c.37823-2A>C (n.37823-2A>C)
c.63866-2A>C (n.63866-2A>C)
c.59264-2A>C (n.59264-2A>C)
c.59261-2A>C (n.59261-2A>C)
c.56303-2A>C (n.56303-2A>C)
c.37919-2A>C (n.37919-2A>C)
c.59414-2A>C (n.59414-2A>C)
c.59411-2A>C (n.59411-2A>C)
c.58844-2A>C (n.58844-2A>C)
c.56186-2A>C (n.56186-2A>C)
c.56105-2A>C (n.56105-2A>C)
c.37868-2A>C (n.37868-2A>C)
c.27722-2A>C (n.27722-2A>C)
2g.178584581G>ACA430263488TTN,TTN-AS1c.57269-3C>T (n.57269-3C>T)
c.38354-3C>T (n.38354-3C>T)
c.38153-3C>T (n.38153-3C>T)
c.37778-3C>T (n.37778-3C>T)
c.64973-3C>T (n.64973-3C>T)
c.60050-3C>T (n.60050-3C>T)
n.597-13015G>A
n.2776G>A
c.64070-3C>T (n.64070-3C>T)
c.37964-3C>T (n.37964-3C>T)
c.37823-3C>T (n.37823-3C>T)
c.63866-3C>T (n.63866-3C>T)
c.59264-3C>T (n.59264-3C>T)
c.59261-3C>T (n.59261-3C>T)
c.56303-3C>T (n.56303-3C>T)
c.37919-3C>T (n.37919-3C>T)
c.59414-3C>T (n.59414-3C>T)
c.59411-3C>T (n.59411-3C>T)
c.58844-3C>T (n.58844-3C>T)
c.56186-3C>T (n.56186-3C>T)
c.56105-3C>T (n.56105-3C>T)
c.37868-3C>T (n.37868-3C>T)
c.27722-3C>T (n.27722-3C>T)
 gnomAD v4
2g.178584581G>CCA1991803TTN,TTN-AS1c.57269-3C>G (n.57269-3C>G)
c.38354-3C>G (n.38354-3C>G)
c.38153-3C>G (n.38153-3C>G)
c.37778-3C>G (n.37778-3C>G)
c.64973-3C>G (n.64973-3C>G)
c.60050-3C>G (n.60050-3C>G)
n.597-13015G>C
n.2776G>C
c.64070-3C>G (n.64070-3C>G)
c.37964-3C>G (n.37964-3C>G)
c.37823-3C>G (n.37823-3C>G)
c.63866-3C>G (n.63866-3C>G)
c.59264-3C>G (n.59264-3C>G)
c.59261-3C>G (n.59261-3C>G)
c.56303-3C>G (n.56303-3C>G)
c.37919-3C>G (n.37919-3C>G)
c.59414-3C>G (n.59414-3C>G)
c.59411-3C>G (n.59411-3C>G)
c.58844-3C>G (n.58844-3C>G)
c.56186-3C>G (n.56186-3C>G)
c.56105-3C>G (n.56105-3C>G)
c.37868-3C>G (n.37868-3C>G)
c.27722-3C>G (n.27722-3C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178584581G=CA1310537084TTN,TTN-AS1c.57269-3C= (n.57269-3C=)
c.38354-3C= (n.38354-3C=)
c.38153-3C= (n.38153-3C=)
c.37778-3C= (n.37778-3C=)
c.64973-3C= (n.64973-3C=)
c.60050-3C= (n.60050-3C=)
n.597-13015G=
n.2776G=
c.64070-3C= (n.64070-3C=)
c.37964-3C= (n.37964-3C=)
c.37823-3C= (n.37823-3C=)
c.63866-3C= (n.63866-3C=)
c.59264-3C= (n.59264-3C=)
c.59261-3C= (n.59261-3C=)
c.56303-3C= (n.56303-3C=)
c.37919-3C= (n.37919-3C=)
c.59414-3C= (n.59414-3C=)
c.59411-3C= (n.59411-3C=)
c.58844-3C= (n.58844-3C=)
c.56186-3C= (n.56186-3C=)
c.56105-3C= (n.56105-3C=)
c.37868-3C= (n.37868-3C=)
c.27722-3C= (n.27722-3C=)
2g.178584581G>TCA430263490TTN,TTN-AS1c.57269-3C>A (n.57269-3C>A)
c.38354-3C>A (n.38354-3C>A)
c.38153-3C>A (n.38153-3C>A)
c.37778-3C>A (n.37778-3C>A)
c.64973-3C>A (n.64973-3C>A)
c.60050-3C>A (n.60050-3C>A)
n.597-13015G>T
n.2776G>T
c.64070-3C>A (n.64070-3C>A)
c.37964-3C>A (n.37964-3C>A)
c.37823-3C>A (n.37823-3C>A)
c.63866-3C>A (n.63866-3C>A)
c.59264-3C>A (n.59264-3C>A)
c.59261-3C>A (n.59261-3C>A)
c.56303-3C>A (n.56303-3C>A)
c.37919-3C>A (n.37919-3C>A)
c.59414-3C>A (n.59414-3C>A)
c.59411-3C>A (n.59411-3C>A)
c.58844-3C>A (n.58844-3C>A)
c.56186-3C>A (n.56186-3C>A)
c.56105-3C>A (n.56105-3C>A)
c.37868-3C>A (n.37868-3C>A)
c.27722-3C>A (n.27722-3C>A)

Number of alleles fetched