Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178552559G>ACA349511648TTN,TTN-AS1c.82637C>T (p.Pro27546Leu)
c.63722C>T (p.Pro21241Leu)
c.63521C>T (p.Pro21174Leu)
c.63146C>T (p.Pro21049Leu)
c.90341C>T (p.Pro30114Leu)
c.85418C>T (p.Pro28473Leu)
n.447-18741G>A
n.2043+10198G>A
c.89438C>T (p.Pro29813Leu)
c.63332C>T (p.Pro21111Leu)
c.63191C>T (p.Pro21064Leu)
c.89234C>T (p.Pro29745Leu)
c.84632C>T (p.Pro28211Leu)
c.84629C>T (p.Pro28210Leu)
c.81671C>T (p.Pro27224Leu)
c.63287C>T (p.Pro21096Leu)
c.84782C>T (p.Pro28261Leu)
c.84779C>T (p.Pro28260Leu)
c.84212C>T (p.Pro28071Leu)
c.81554C>T (p.Pro27185Leu)
c.81473C>T (p.Pro27158Leu)
c.63236C>T (p.Pro21079Leu)
c.53090C>T (p.Pro17697Leu)
2g.178552559G>CCA349511650TTN,TTN-AS1c.82637C>G (p.Pro27546Arg)
c.63722C>G (p.Pro21241Arg)
c.63521C>G (p.Pro21174Arg)
c.63146C>G (p.Pro21049Arg)
c.90341C>G (p.Pro30114Arg)
c.85418C>G (p.Pro28473Arg)
n.447-18741G>C
n.2043+10198G>C
c.89438C>G (p.Pro29813Arg)
c.63332C>G (p.Pro21111Arg)
c.63191C>G (p.Pro21064Arg)
c.89234C>G (p.Pro29745Arg)
c.84632C>G (p.Pro28211Arg)
c.84629C>G (p.Pro28210Arg)
c.81671C>G (p.Pro27224Arg)
c.63287C>G (p.Pro21096Arg)
c.84782C>G (p.Pro28261Arg)
c.84779C>G (p.Pro28260Arg)
c.84212C>G (p.Pro28071Arg)
c.81554C>G (p.Pro27185Arg)
c.81473C>G (p.Pro27158Arg)
c.63236C>G (p.Pro21079Arg)
c.53090C>G (p.Pro17697Arg)
2g.178552559G>TCA349511653TTN,TTN-AS1c.82637C>A (p.Pro27546His)
c.63722C>A (p.Pro21241His)
c.63521C>A (p.Pro21174His)
c.63146C>A (p.Pro21049His)
c.90341C>A (p.Pro30114His)
c.85418C>A (p.Pro28473His)
n.447-18741G>T
n.2043+10198G>T
c.89438C>A (p.Pro29813His)
c.63332C>A (p.Pro21111His)
c.63191C>A (p.Pro21064His)
c.89234C>A (p.Pro29745His)
c.84632C>A (p.Pro28211His)
c.84629C>A (p.Pro28210His)
c.81671C>A (p.Pro27224His)
c.63287C>A (p.Pro21096His)
c.84782C>A (p.Pro28261His)
c.84779C>A (p.Pro28260His)
c.84212C>A (p.Pro28071His)
c.81554C>A (p.Pro27185His)
c.81473C>A (p.Pro27158His)
c.63236C>A (p.Pro21079His)
c.53090C>A (p.Pro17697His)
2g.178552560G>ACA1987800TTN,TTN-AS1c.82636C>T (p.Pro27546Ser)
c.63721C>T (p.Pro21241Ser)
c.63520C>T (p.Pro21174Ser)
c.63145C>T (p.Pro21049Ser)
c.90340C>T (p.Pro30114Ser)
c.85417C>T (p.Pro28473Ser)
n.447-18740G>A
n.2043+10199G>A
c.89437C>T (p.Pro29813Ser)
c.63331C>T (p.Pro21111Ser)
c.63190C>T (p.Pro21064Ser)
c.89233C>T (p.Pro29745Ser)
c.84631C>T (p.Pro28211Ser)
c.84628C>T (p.Pro28210Ser)
c.81670C>T (p.Pro27224Ser)
c.63286C>T (p.Pro21096Ser)
c.84781C>T (p.Pro28261Ser)
c.84778C>T (p.Pro28260Ser)
c.84211C>T (p.Pro28071Ser)
c.81553C>T (p.Pro27185Ser)
c.81472C>T (p.Pro27158Ser)
c.63235C>T (p.Pro21079Ser)
c.53089C>T (p.Pro17697Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178552560G>CCA349511659TTN,TTN-AS1c.82636C>G (p.Pro27546Ala)
c.63721C>G (p.Pro21241Ala)
c.63520C>G (p.Pro21174Ala)
c.63145C>G (p.Pro21049Ala)
c.90340C>G (p.Pro30114Ala)
c.85417C>G (p.Pro28473Ala)
n.447-18740G>C
n.2043+10199G>C
c.89437C>G (p.Pro29813Ala)
c.63331C>G (p.Pro21111Ala)
c.63190C>G (p.Pro21064Ala)
c.89233C>G (p.Pro29745Ala)
c.84631C>G (p.Pro28211Ala)
c.84628C>G (p.Pro28210Ala)
c.81670C>G (p.Pro27224Ala)
c.63286C>G (p.Pro21096Ala)
c.84781C>G (p.Pro28261Ala)
c.84778C>G (p.Pro28260Ala)
c.84211C>G (p.Pro28071Ala)
c.81553C>G (p.Pro27185Ala)
c.81472C>G (p.Pro27158Ala)
c.63235C>G (p.Pro21079Ala)
c.53089C>G (p.Pro17697Ala)
2g.178552560G=CA1310522112TTN,TTN-AS1c.82636C= (p.Pro27546=)
c.63721C= (p.Pro21241=)
c.63520C= (p.Pro21174=)
c.63145C= (p.Pro21049=)
c.90340C= (p.Pro30114=)
c.85417C= (p.Pro28473=)
n.447-18740G=
n.2043+10199G=
c.89437C= (p.Pro29813=)
c.63331C= (p.Pro21111=)
c.63190C= (p.Pro21064=)
c.89233C= (p.Pro29745=)
c.84631C= (p.Pro28211=)
c.84628C= (p.Pro28210=)
c.81670C= (p.Pro27224=)
c.63286C= (p.Pro21096=)
c.84781C= (p.Pro28261=)
c.84778C= (p.Pro28260=)
c.84211C= (p.Pro28071=)
c.81553C= (p.Pro27185=)
c.81472C= (p.Pro27158=)
c.63235C= (p.Pro21079=)
c.53089C= (p.Pro17697=)
2g.178552560G>TCA349511660TTN,TTN-AS1c.82636C>A (p.Pro27546Thr)
c.63721C>A (p.Pro21241Thr)
c.63520C>A (p.Pro21174Thr)
c.63145C>A (p.Pro21049Thr)
c.90340C>A (p.Pro30114Thr)
c.85417C>A (p.Pro28473Thr)
n.447-18740G>T
n.2043+10199G>T
c.89437C>A (p.Pro29813Thr)
c.63331C>A (p.Pro21111Thr)
c.63190C>A (p.Pro21064Thr)
c.89233C>A (p.Pro29745Thr)
c.84631C>A (p.Pro28211Thr)
c.84628C>A (p.Pro28210Thr)
c.81670C>A (p.Pro27224Thr)
c.63286C>A (p.Pro21096Thr)
c.84781C>A (p.Pro28261Thr)
c.84778C>A (p.Pro28260Thr)
c.84211C>A (p.Pro28071Thr)
c.81553C>A (p.Pro27185Thr)
c.81472C>A (p.Pro27158Thr)
c.63235C>A (p.Pro21079Thr)
c.53089C>A (p.Pro17697Thr)
2g.178552561A>CCA349511662TTN,TTN-AS1c.82635T>G (p.Asp27545Glu)
c.63720T>G (p.Asp21240Glu)
c.63519T>G (p.Asp21173Glu)
c.63144T>G (p.Asp21048Glu)
c.90339T>G (p.Asp30113Glu)
c.85416T>G (p.Asp28472Glu)
n.447-18739A>C
n.2043+10200A>C
c.89436T>G (p.Asp29812Glu)
c.63330T>G (p.Asp21110Glu)
c.63189T>G (p.Asp21063Glu)
c.89232T>G (p.Asp29744Glu)
c.84630T>G (p.Asp28210Glu)
c.84627T>G (p.Asp28209Glu)
c.81669T>G (p.Asp27223Glu)
c.63285T>G (p.Asp21095Glu)
c.84780T>G (p.Asp28260Glu)
c.84777T>G (p.Asp28259Glu)
c.84210T>G (p.Asp28070Glu)
c.81552T>G (p.Asp27184Glu)
c.81471T>G (p.Asp27157Glu)
c.63234T>G (p.Asp21078Glu)
c.53088T>G (p.Asp17696Glu)
2g.178552561A>GCA430245456TTN,TTN-AS1c.82635T>C (p.Asp27545=)
c.63720T>C (p.Asp21240=)
c.63519T>C (p.Asp21173=)
c.63144T>C (p.Asp21048=)
c.90339T>C (p.Asp30113=)
c.85416T>C (p.Asp28472=)
n.447-18739A>G
n.2043+10200A>G
c.89436T>C (p.Asp29812=)
c.63330T>C (p.Asp21110=)
c.63189T>C (p.Asp21063=)
c.89232T>C (p.Asp29744=)
c.84630T>C (p.Asp28210=)
c.84627T>C (p.Asp28209=)
c.81669T>C (p.Asp27223=)
c.63285T>C (p.Asp21095=)
c.84780T>C (p.Asp28260=)
c.84777T>C (p.Asp28259=)
c.84210T>C (p.Asp28070=)
c.81552T>C (p.Asp27184=)
c.81471T>C (p.Asp27157=)
c.63234T>C (p.Asp21078=)
c.53088T>C (p.Asp17696=)
2g.178552561A>TCA349511666TTN,TTN-AS1c.82635T>A (p.Asp27545Glu)
c.63720T>A (p.Asp21240Glu)
c.63519T>A (p.Asp21173Glu)
c.63144T>A (p.Asp21048Glu)
c.90339T>A (p.Asp30113Glu)
c.85416T>A (p.Asp28472Glu)
n.447-18739A>T
n.2043+10200A>T
c.89436T>A (p.Asp29812Glu)
c.63330T>A (p.Asp21110Glu)
c.63189T>A (p.Asp21063Glu)
c.89232T>A (p.Asp29744Glu)
c.84630T>A (p.Asp28210Glu)
c.84627T>A (p.Asp28209Glu)
c.81669T>A (p.Asp27223Glu)
c.63285T>A (p.Asp21095Glu)
c.84780T>A (p.Asp28260Glu)
c.84777T>A (p.Asp28259Glu)
c.84210T>A (p.Asp28070Glu)
c.81552T>A (p.Asp27184Glu)
c.81471T>A (p.Asp27157Glu)
c.63234T>A (p.Asp21078Glu)
c.53088T>A (p.Asp17696Glu)
2g.178552562T>ACA349511671TTN,TTN-AS1c.82634A>T (p.Asp27545Val)
c.63719A>T (p.Asp21240Val)
c.63518A>T (p.Asp21173Val)
c.63143A>T (p.Asp21048Val)
c.90338A>T (p.Asp30113Val)
c.85415A>T (p.Asp28472Val)
n.447-18738T>A
n.2043+10201T>A
c.89435A>T (p.Asp29812Val)
c.63329A>T (p.Asp21110Val)
c.63188A>T (p.Asp21063Val)
c.89231A>T (p.Asp29744Val)
c.84629A>T (p.Asp28210Val)
c.84626A>T (p.Asp28209Val)
c.81668A>T (p.Asp27223Val)
c.63284A>T (p.Asp21095Val)
c.84779A>T (p.Asp28260Val)
c.84776A>T (p.Asp28259Val)
c.84209A>T (p.Asp28070Val)
c.81551A>T (p.Asp27184Val)
c.81470A>T (p.Asp27157Val)
c.63233A>T (p.Asp21078Val)
c.53087A>T (p.Asp17696Val)
2g.178552562T>CCA349511677TTN,TTN-AS1c.82634A>G (p.Asp27545Gly)
c.63719A>G (p.Asp21240Gly)
c.63518A>G (p.Asp21173Gly)
c.63143A>G (p.Asp21048Gly)
c.90338A>G (p.Asp30113Gly)
c.85415A>G (p.Asp28472Gly)
n.447-18738T>C
n.2043+10201T>C
c.89435A>G (p.Asp29812Gly)
c.63329A>G (p.Asp21110Gly)
c.63188A>G (p.Asp21063Gly)
c.89231A>G (p.Asp29744Gly)
c.84629A>G (p.Asp28210Gly)
c.84626A>G (p.Asp28209Gly)
c.81668A>G (p.Asp27223Gly)
c.63284A>G (p.Asp21095Gly)
c.84779A>G (p.Asp28260Gly)
c.84776A>G (p.Asp28259Gly)
c.84209A>G (p.Asp28070Gly)
c.81551A>G (p.Asp27184Gly)
c.81470A>G (p.Asp27157Gly)
c.63233A>G (p.Asp21078Gly)
c.53087A>G (p.Asp17696Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.178552562T>GCA349511687TTN,TTN-AS1c.82634A>C (p.Asp27545Ala)
c.63719A>C (p.Asp21240Ala)
c.63518A>C (p.Asp21173Ala)
c.63143A>C (p.Asp21048Ala)
c.90338A>C (p.Asp30113Ala)
c.85415A>C (p.Asp28472Ala)
n.447-18738T>G
n.2043+10201T>G
c.89435A>C (p.Asp29812Ala)
c.63329A>C (p.Asp21110Ala)
c.63188A>C (p.Asp21063Ala)
c.89231A>C (p.Asp29744Ala)
c.84629A>C (p.Asp28210Ala)
c.84626A>C (p.Asp28209Ala)
c.81668A>C (p.Asp27223Ala)
c.63284A>C (p.Asp21095Ala)
c.84779A>C (p.Asp28260Ala)
c.84776A>C (p.Asp28259Ala)
c.84209A>C (p.Asp28070Ala)
c.81551A>C (p.Asp27184Ala)
c.81470A>C (p.Asp27157Ala)
c.63233A>C (p.Asp21078Ala)
c.53087A>C (p.Asp17696Ala)
2g.178552562T=CA1310522114TTN,TTN-AS1c.82634A= (p.Asp27545=)
c.63719A= (p.Asp21240=)
c.63518A= (p.Asp21173=)
c.63143A= (p.Asp21048=)
c.90338A= (p.Asp30113=)
c.85415A= (p.Asp28472=)
n.447-18738T=
n.2043+10201T=
c.89435A= (p.Asp29812=)
c.63329A= (p.Asp21110=)
c.63188A= (p.Asp21063=)
c.89231A= (p.Asp29744=)
c.84629A= (p.Asp28210=)
c.84626A= (p.Asp28209=)
c.81668A= (p.Asp27223=)
c.63284A= (p.Asp21095=)
c.84779A= (p.Asp28260=)
c.84776A= (p.Asp28259=)
c.84209A= (p.Asp28070=)
c.81551A= (p.Asp27184=)
c.81470A= (p.Asp27157=)
c.63233A= (p.Asp21078=)
c.53087A= (p.Asp17696=)
2g.178552563C>ACA349511699TTN,TTN-AS1c.82633G>T (p.Asp27545Tyr)
c.63718G>T (p.Asp21240Tyr)
c.63517G>T (p.Asp21173Tyr)
c.63142G>T (p.Asp21048Tyr)
c.90337G>T (p.Asp30113Tyr)
c.85414G>T (p.Asp28472Tyr)
n.447-18737C>A
n.2043+10202C>A
c.89434G>T (p.Asp29812Tyr)
c.63328G>T (p.Asp21110Tyr)
c.63187G>T (p.Asp21063Tyr)
c.89230G>T (p.Asp29744Tyr)
c.84628G>T (p.Asp28210Tyr)
c.84625G>T (p.Asp28209Tyr)
c.81667G>T (p.Asp27223Tyr)
c.63283G>T (p.Asp21095Tyr)
c.84778G>T (p.Asp28260Tyr)
c.84775G>T (p.Asp28259Tyr)
c.84208G>T (p.Asp28070Tyr)
c.81550G>T (p.Asp27184Tyr)
c.81469G>T (p.Asp27157Tyr)
c.63232G>T (p.Asp21078Tyr)
c.53086G>T (p.Asp17696Tyr)
2g.178552563C=CA1310522116TTN,TTN-AS1c.82633G= (p.Asp27545=)
c.63718G= (p.Asp21240=)
c.63517G= (p.Asp21173=)
c.63142G= (p.Asp21048=)
c.90337G= (p.Asp30113=)
c.85414G= (p.Asp28472=)
n.447-18737C=
n.2043+10202C=
c.89434G= (p.Asp29812=)
c.63328G= (p.Asp21110=)
c.63187G= (p.Asp21063=)
c.89230G= (p.Asp29744=)
c.84628G= (p.Asp28210=)
c.84625G= (p.Asp28209=)
c.81667G= (p.Asp27223=)
c.63283G= (p.Asp21095=)
c.84778G= (p.Asp28260=)
c.84775G= (p.Asp28259=)
c.84208G= (p.Asp28070=)
c.81550G= (p.Asp27184=)
c.81469G= (p.Asp27157=)
c.63232G= (p.Asp21078=)
c.53086G= (p.Asp17696=)
2g.178552563C>GCA349511698TTN,TTN-AS1c.82633G>C (p.Asp27545His)
c.63718G>C (p.Asp21240His)
c.63517G>C (p.Asp21173His)
c.63142G>C (p.Asp21048His)
c.90337G>C (p.Asp30113His)
c.85414G>C (p.Asp28472His)
n.447-18737C>G
n.2043+10202C>G
c.89434G>C (p.Asp29812His)
c.63328G>C (p.Asp21110His)
c.63187G>C (p.Asp21063His)
c.89230G>C (p.Asp29744His)
c.84628G>C (p.Asp28210His)
c.84625G>C (p.Asp28209His)
c.81667G>C (p.Asp27223His)
c.63283G>C (p.Asp21095His)
c.84778G>C (p.Asp28260His)
c.84775G>C (p.Asp28259His)
c.84208G>C (p.Asp28070His)
c.81550G>C (p.Asp27184His)
c.81469G>C (p.Asp27157His)
c.63232G>C (p.Asp21078His)
c.53086G>C (p.Asp17696His)
2g.178552563C>TCA349511692TTN,TTN-AS1c.82633G>A (p.Asp27545Asn)
c.63718G>A (p.Asp21240Asn)
c.63517G>A (p.Asp21173Asn)
c.63142G>A (p.Asp21048Asn)
c.90337G>A (p.Asp30113Asn)
c.85414G>A (p.Asp28472Asn)
n.447-18737C>T
n.2043+10202C>T
c.89434G>A (p.Asp29812Asn)
c.63328G>A (p.Asp21110Asn)
c.63187G>A (p.Asp21063Asn)
c.89230G>A (p.Asp29744Asn)
c.84628G>A (p.Asp28210Asn)
c.84625G>A (p.Asp28209Asn)
c.81667G>A (p.Asp27223Asn)
c.63283G>A (p.Asp21095Asn)
c.84778G>A (p.Asp28260Asn)
c.84775G>A (p.Asp28259Asn)
c.84208G>A (p.Asp28070Asn)
c.81550G>A (p.Asp27184Asn)
c.81469G>A (p.Asp27157Asn)
c.63232G>A (p.Asp21078Asn)
c.53086G>A (p.Asp17696Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.178552564A=CA1310522117TTN,TTN-AS1c.82632T= (p.Ser27544=)
c.63717T= (p.Ser21239=)
c.63516T= (p.Ser21172=)
c.63141T= (p.Ser21047=)
c.90336T= (p.Ser30112=)
c.85413T= (p.Ser28471=)
n.447-18736A=
n.2043+10203A=
c.89433T= (p.Ser29811=)
c.63327T= (p.Ser21109=)
c.63186T= (p.Ser21062=)
c.89229T= (p.Ser29743=)
c.84627T= (p.Ser28209=)
c.84624T= (p.Ser28208=)
c.81666T= (p.Ser27222=)
c.63282T= (p.Ser21094=)
c.84777T= (p.Ser28259=)
c.84774T= (p.Ser28258=)
c.84207T= (p.Ser28069=)
c.81549T= (p.Ser27183=)
c.81468T= (p.Ser27156=)
c.63231T= (p.Ser21077=)
c.53085T= (p.Ser17695=)
2g.178552564A>CCA349511701TTN,TTN-AS1c.82632T>G (p.Ser27544Arg)
c.63717T>G (p.Ser21239Arg)
c.63516T>G (p.Ser21172Arg)
c.63141T>G (p.Ser21047Arg)
c.90336T>G (p.Ser30112Arg)
c.85413T>G (p.Ser28471Arg)
n.447-18736A>C
n.2043+10203A>C
c.89433T>G (p.Ser29811Arg)
c.63327T>G (p.Ser21109Arg)
c.63186T>G (p.Ser21062Arg)
c.89229T>G (p.Ser29743Arg)
c.84627T>G (p.Ser28209Arg)
c.84624T>G (p.Ser28208Arg)
c.81666T>G (p.Ser27222Arg)
c.63282T>G (p.Ser21094Arg)
c.84777T>G (p.Ser28259Arg)
c.84774T>G (p.Ser28258Arg)
c.84207T>G (p.Ser28069Arg)
c.81549T>G (p.Ser27183Arg)
c.81468T>G (p.Ser27156Arg)
c.63231T>G (p.Ser21077Arg)
c.53085T>G (p.Ser17695Arg)
2g.178552564A>GCA430245458TTN,TTN-AS1c.82632T>C (p.Ser27544=)
c.63717T>C (p.Ser21239=)
c.63516T>C (p.Ser21172=)
c.63141T>C (p.Ser21047=)
c.90336T>C (p.Ser30112=)
c.85413T>C (p.Ser28471=)
n.447-18736A>G
n.2043+10203A>G
c.89433T>C (p.Ser29811=)
c.63327T>C (p.Ser21109=)
c.63186T>C (p.Ser21062=)
c.89229T>C (p.Ser29743=)
c.84627T>C (p.Ser28209=)
c.84624T>C (p.Ser28208=)
c.81666T>C (p.Ser27222=)
c.63282T>C (p.Ser21094=)
c.84777T>C (p.Ser28259=)
c.84774T>C (p.Ser28258=)
c.84207T>C (p.Ser28069=)
c.81549T>C (p.Ser27183=)
c.81468T>C (p.Ser27156=)
c.63231T>C (p.Ser21077=)
c.53085T>C (p.Ser17695=)
 dbSNP
2g.178552564A>TCA349511703TTN,TTN-AS1c.82632T>A (p.Ser27544Arg)
c.63717T>A (p.Ser21239Arg)
c.63516T>A (p.Ser21172Arg)
c.63141T>A (p.Ser21047Arg)
c.90336T>A (p.Ser30112Arg)
c.85413T>A (p.Ser28471Arg)
n.447-18736A>T
n.2043+10203A>T
c.89433T>A (p.Ser29811Arg)
c.63327T>A (p.Ser21109Arg)
c.63186T>A (p.Ser21062Arg)
c.89229T>A (p.Ser29743Arg)
c.84627T>A (p.Ser28209Arg)
c.84624T>A (p.Ser28208Arg)
c.81666T>A (p.Ser27222Arg)
c.63282T>A (p.Ser21094Arg)
c.84777T>A (p.Ser28259Arg)
c.84774T>A (p.Ser28258Arg)
c.84207T>A (p.Ser28069Arg)
c.81549T>A (p.Ser27183Arg)
c.81468T>A (p.Ser27156Arg)
c.63231T>A (p.Ser21077Arg)
c.53085T>A (p.Ser17695Arg)
2g.178552565C>ACA349511705TTN,TTN-AS1c.82631G>T (p.Ser27544Ile)
c.63716G>T (p.Ser21239Ile)
c.63515G>T (p.Ser21172Ile)
c.63140G>T (p.Ser21047Ile)
c.90335G>T (p.Ser30112Ile)
c.85412G>T (p.Ser28471Ile)
n.447-18735C>A
n.2043+10204C>A
c.89432G>T (p.Ser29811Ile)
c.63326G>T (p.Ser21109Ile)
c.63185G>T (p.Ser21062Ile)
c.89228G>T (p.Ser29743Ile)
c.84626G>T (p.Ser28209Ile)
c.84623G>T (p.Ser28208Ile)
c.81665G>T (p.Ser27222Ile)
c.63281G>T (p.Ser21094Ile)
c.84776G>T (p.Ser28259Ile)
c.84773G>T (p.Ser28258Ile)
c.84206G>T (p.Ser28069Ile)
c.81548G>T (p.Ser27183Ile)
c.81467G>T (p.Ser27156Ile)
c.63230G>T (p.Ser21077Ile)
c.53084G>T (p.Ser17695Ile)
2g.178552565C>GCA349511713TTN,TTN-AS1c.82631G>C (p.Ser27544Thr)
c.63716G>C (p.Ser21239Thr)
c.63515G>C (p.Ser21172Thr)
c.63140G>C (p.Ser21047Thr)
c.90335G>C (p.Ser30112Thr)
c.85412G>C (p.Ser28471Thr)
n.447-18735C>G
n.2043+10204C>G
c.89432G>C (p.Ser29811Thr)
c.63326G>C (p.Ser21109Thr)
c.63185G>C (p.Ser21062Thr)
c.89228G>C (p.Ser29743Thr)
c.84626G>C (p.Ser28209Thr)
c.84623G>C (p.Ser28208Thr)
c.81665G>C (p.Ser27222Thr)
c.63281G>C (p.Ser21094Thr)
c.84776G>C (p.Ser28259Thr)
c.84773G>C (p.Ser28258Thr)
c.84206G>C (p.Ser28069Thr)
c.81548G>C (p.Ser27183Thr)
c.81467G>C (p.Ser27156Thr)
c.63230G>C (p.Ser21077Thr)
c.53084G>C (p.Ser17695Thr)
2g.178552565C>TCA349511717TTN,TTN-AS1c.82631G>A (p.Ser27544Asn)
c.63716G>A (p.Ser21239Asn)
c.63515G>A (p.Ser21172Asn)
c.63140G>A (p.Ser21047Asn)
c.90335G>A (p.Ser30112Asn)
c.85412G>A (p.Ser28471Asn)
n.447-18735C>T
n.2043+10204C>T
c.89432G>A (p.Ser29811Asn)
c.63326G>A (p.Ser21109Asn)
c.63185G>A (p.Ser21062Asn)
c.89228G>A (p.Ser29743Asn)
c.84626G>A (p.Ser28209Asn)
c.84623G>A (p.Ser28208Asn)
c.81665G>A (p.Ser27222Asn)
c.63281G>A (p.Ser21094Asn)
c.84776G>A (p.Ser28259Asn)
c.84773G>A (p.Ser28258Asn)
c.84206G>A (p.Ser28069Asn)
c.81548G>A (p.Ser27183Asn)
c.81467G>A (p.Ser27156Asn)
c.63230G>A (p.Ser21077Asn)
c.53084G>A (p.Ser17695Asn)
2g.178552566T>ACA349511722TTN,TTN-AS1c.82630A>T (p.Ser27544Cys)
c.63715A>T (p.Ser21239Cys)
c.63514A>T (p.Ser21172Cys)
c.63139A>T (p.Ser21047Cys)
c.90334A>T (p.Ser30112Cys)
c.85411A>T (p.Ser28471Cys)
n.447-18734T>A
n.2043+10205T>A
c.89431A>T (p.Ser29811Cys)
c.63325A>T (p.Ser21109Cys)
c.63184A>T (p.Ser21062Cys)
c.89227A>T (p.Ser29743Cys)
c.84625A>T (p.Ser28209Cys)
c.84622A>T (p.Ser28208Cys)
c.81664A>T (p.Ser27222Cys)
c.63280A>T (p.Ser21094Cys)
c.84775A>T (p.Ser28259Cys)
c.84772A>T (p.Ser28258Cys)
c.84205A>T (p.Ser28069Cys)
c.81547A>T (p.Ser27183Cys)
c.81466A>T (p.Ser27156Cys)
c.63229A>T (p.Ser21077Cys)
c.53083A>T (p.Ser17695Cys)
2g.178552566T>CCA349511724TTN,TTN-AS1c.82630A>G (p.Ser27544Gly)
c.63715A>G (p.Ser21239Gly)
c.63514A>G (p.Ser21172Gly)
c.63139A>G (p.Ser21047Gly)
c.90334A>G (p.Ser30112Gly)
c.85411A>G (p.Ser28471Gly)
n.447-18734T>C
n.2043+10205T>C
c.89431A>G (p.Ser29811Gly)
c.63325A>G (p.Ser21109Gly)
c.63184A>G (p.Ser21062Gly)
c.89227A>G (p.Ser29743Gly)
c.84625A>G (p.Ser28209Gly)
c.84622A>G (p.Ser28208Gly)
c.81664A>G (p.Ser27222Gly)
c.63280A>G (p.Ser21094Gly)
c.84775A>G (p.Ser28259Gly)
c.84772A>G (p.Ser28258Gly)
c.84205A>G (p.Ser28069Gly)
c.81547A>G (p.Ser27183Gly)
c.81466A>G (p.Ser27156Gly)
c.63229A>G (p.Ser21077Gly)
c.53083A>G (p.Ser17695Gly)
2g.178552566T>GCA349511738TTN,TTN-AS1c.82630A>C (p.Ser27544Arg)
c.63715A>C (p.Ser21239Arg)
c.63514A>C (p.Ser21172Arg)
c.63139A>C (p.Ser21047Arg)
c.90334A>C (p.Ser30112Arg)
c.85411A>C (p.Ser28471Arg)
n.447-18734T>G
n.2043+10205T>G
c.89431A>C (p.Ser29811Arg)
c.63325A>C (p.Ser21109Arg)
c.63184A>C (p.Ser21062Arg)
c.89227A>C (p.Ser29743Arg)
c.84625A>C (p.Ser28209Arg)
c.84622A>C (p.Ser28208Arg)
c.81664A>C (p.Ser27222Arg)
c.63280A>C (p.Ser21094Arg)
c.84775A>C (p.Ser28259Arg)
c.84772A>C (p.Ser28258Arg)
c.84205A>C (p.Ser28069Arg)
c.81547A>C (p.Ser27183Arg)
c.81466A>C (p.Ser27156Arg)
c.63229A>C (p.Ser21077Arg)
c.53083A>C (p.Ser17695Arg)
2g.178552567C>ACA430245461TTN,TTN-AS1c.82629G>T (p.Leu27543=)
c.63714G>T (p.Leu21238=)
c.63513G>T (p.Leu21171=)
c.63138G>T (p.Leu21046=)
c.90333G>T (p.Leu30111=)
c.85410G>T (p.Leu28470=)
n.447-18733C>A
n.2043+10206C>A
c.89430G>T (p.Leu29810=)
c.63324G>T (p.Leu21108=)
c.63183G>T (p.Leu21061=)
c.89226G>T (p.Leu29742=)
c.84624G>T (p.Leu28208=)
c.84621G>T (p.Leu28207=)
c.81663G>T (p.Leu27221=)
c.63279G>T (p.Leu21093=)
c.84774G>T (p.Leu28258=)
c.84771G>T (p.Leu28257=)
c.84204G>T (p.Leu28068=)
c.81546G>T (p.Leu27182=)
c.81465G>T (p.Leu27155=)
c.63228G>T (p.Leu21076=)
c.53082G>T (p.Leu17694=)
2g.178552567C=CA1310522119TTN,TTN-AS1c.82629G= (p.Leu27543=)
c.63714G= (p.Leu21238=)
c.63513G= (p.Leu21171=)
c.63138G= (p.Leu21046=)
c.90333G= (p.Leu30111=)
c.85410G= (p.Leu28470=)
n.447-18733C=
n.2043+10206C=
c.89430G= (p.Leu29810=)
c.63324G= (p.Leu21108=)
c.63183G= (p.Leu21061=)
c.89226G= (p.Leu29742=)
c.84624G= (p.Leu28208=)
c.84621G= (p.Leu28207=)
c.81663G= (p.Leu27221=)
c.63279G= (p.Leu21093=)
c.84774G= (p.Leu28258=)
c.84771G= (p.Leu28257=)
c.84204G= (p.Leu28068=)
c.81546G= (p.Leu27182=)
c.81465G= (p.Leu27155=)
c.63228G= (p.Leu21076=)
c.53082G= (p.Leu17694=)
2g.178552567C>GCA430245462TTN,TTN-AS1c.82629G>C (p.Leu27543=)
c.63714G>C (p.Leu21238=)
c.63513G>C (p.Leu21171=)
c.63138G>C (p.Leu21046=)
c.90333G>C (p.Leu30111=)
c.85410G>C (p.Leu28470=)
n.447-18733C>G
n.2043+10206C>G
c.89430G>C (p.Leu29810=)
c.63324G>C (p.Leu21108=)
c.63183G>C (p.Leu21061=)
c.89226G>C (p.Leu29742=)
c.84624G>C (p.Leu28208=)
c.84621G>C (p.Leu28207=)
c.81663G>C (p.Leu27221=)
c.63279G>C (p.Leu21093=)
c.84774G>C (p.Leu28258=)
c.84771G>C (p.Leu28257=)
c.84204G>C (p.Leu28068=)
c.81546G>C (p.Leu27182=)
c.81465G>C (p.Leu27155=)
c.63228G>C (p.Leu21076=)
c.53082G>C (p.Leu17694=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178552567C>TCA430245463TTN,TTN-AS1c.82629G>A (p.Leu27543=)
c.63714G>A (p.Leu21238=)
c.63513G>A (p.Leu21171=)
c.63138G>A (p.Leu21046=)
c.90333G>A (p.Leu30111=)
c.85410G>A (p.Leu28470=)
n.447-18733C>T
n.2043+10206C>T
c.89430G>A (p.Leu29810=)
c.63324G>A (p.Leu21108=)
c.63183G>A (p.Leu21061=)
c.89226G>A (p.Leu29742=)
c.84624G>A (p.Leu28208=)
c.84621G>A (p.Leu28207=)
c.81663G>A (p.Leu27221=)
c.63279G>A (p.Leu21093=)
c.84774G>A (p.Leu28258=)
c.84771G>A (p.Leu28257=)
c.84204G>A (p.Leu28068=)
c.81546G>A (p.Leu27182=)
c.81465G>A (p.Leu27155=)
c.63228G>A (p.Leu21076=)
c.53082G>A (p.Leu17694=)
2g.178552568A=CA1310522121TTN,TTN-AS1c.82628T= (p.Leu27543=)
c.63713T= (p.Leu21238=)
c.63512T= (p.Leu21171=)
c.63137T= (p.Leu21046=)
c.90332T= (p.Leu30111=)
c.85409T= (p.Leu28470=)
n.447-18732A=
n.2043+10207A=
c.89429T= (p.Leu29810=)
c.63323T= (p.Leu21108=)
c.63182T= (p.Leu21061=)
c.89225T= (p.Leu29742=)
c.84623T= (p.Leu28208=)
c.84620T= (p.Leu28207=)
c.81662T= (p.Leu27221=)
c.63278T= (p.Leu21093=)
c.84773T= (p.Leu28258=)
c.84770T= (p.Leu28257=)
c.84203T= (p.Leu28068=)
c.81545T= (p.Leu27182=)
c.81464T= (p.Leu27155=)
c.63227T= (p.Leu21076=)
c.53081T= (p.Leu17694=)
2g.178552568A>CCA349511739TTN,TTN-AS1c.82628T>G (p.Leu27543Arg)
c.63713T>G (p.Leu21238Arg)
c.63512T>G (p.Leu21171Arg)
c.63137T>G (p.Leu21046Arg)
c.90332T>G (p.Leu30111Arg)
c.85409T>G (p.Leu28470Arg)
n.447-18732A>C
n.2043+10207A>C
c.89429T>G (p.Leu29810Arg)
c.63323T>G (p.Leu21108Arg)
c.63182T>G (p.Leu21061Arg)
c.89225T>G (p.Leu29742Arg)
c.84623T>G (p.Leu28208Arg)
c.84620T>G (p.Leu28207Arg)
c.81662T>G (p.Leu27221Arg)
c.63278T>G (p.Leu21093Arg)
c.84773T>G (p.Leu28258Arg)
c.84770T>G (p.Leu28257Arg)
c.84203T>G (p.Leu28068Arg)
c.81545T>G (p.Leu27182Arg)
c.81464T>G (p.Leu27155Arg)
c.63227T>G (p.Leu21076Arg)
c.53081T>G (p.Leu17694Arg)
2g.178552568A>GCA1987801TTN,TTN-AS1c.82628T>C (p.Leu27543Pro)
c.63713T>C (p.Leu21238Pro)
c.63512T>C (p.Leu21171Pro)
c.63137T>C (p.Leu21046Pro)
c.90332T>C (p.Leu30111Pro)
c.85409T>C (p.Leu28470Pro)
n.447-18732A>G
n.2043+10207A>G
c.89429T>C (p.Leu29810Pro)
c.63323T>C (p.Leu21108Pro)
c.63182T>C (p.Leu21061Pro)
c.89225T>C (p.Leu29742Pro)
c.84623T>C (p.Leu28208Pro)
c.84620T>C (p.Leu28207Pro)
c.81662T>C (p.Leu27221Pro)
c.63278T>C (p.Leu21093Pro)
c.84773T>C (p.Leu28258Pro)
c.84770T>C (p.Leu28257Pro)
c.84203T>C (p.Leu28068Pro)
c.81545T>C (p.Leu27182Pro)
c.81464T>C (p.Leu27155Pro)
c.63227T>C (p.Leu21076Pro)
c.53081T>C (p.Leu17694Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178552568A>TCA349511748TTN,TTN-AS1c.82628T>A (p.Leu27543Gln)
c.63713T>A (p.Leu21238Gln)
c.63512T>A (p.Leu21171Gln)
c.63137T>A (p.Leu21046Gln)
c.90332T>A (p.Leu30111Gln)
c.85409T>A (p.Leu28470Gln)
n.447-18732A>T
n.2043+10207A>T
c.89429T>A (p.Leu29810Gln)
c.63323T>A (p.Leu21108Gln)
c.63182T>A (p.Leu21061Gln)
c.89225T>A (p.Leu29742Gln)
c.84623T>A (p.Leu28208Gln)
c.84620T>A (p.Leu28207Gln)
c.81662T>A (p.Leu27221Gln)
c.63278T>A (p.Leu21093Gln)
c.84773T>A (p.Leu28258Gln)
c.84770T>A (p.Leu28257Gln)
c.84203T>A (p.Leu28068Gln)
c.81545T>A (p.Leu27182Gln)
c.81464T>A (p.Leu27155Gln)
c.63227T>A (p.Leu21076Gln)
c.53081T>A (p.Leu17694Gln)
2g.178552569G>ACA430245466TTN,TTN-AS1c.82627C>T (p.Leu27543=)
c.63712C>T (p.Leu21238=)
c.63511C>T (p.Leu21171=)
c.63136C>T (p.Leu21046=)
c.90331C>T (p.Leu30111=)
c.85408C>T (p.Leu28470=)
n.447-18731G>A
n.2043+10208G>A
c.89428C>T (p.Leu29810=)
c.63322C>T (p.Leu21108=)
c.63181C>T (p.Leu21061=)
c.89224C>T (p.Leu29742=)
c.84622C>T (p.Leu28208=)
c.84619C>T (p.Leu28207=)
c.81661C>T (p.Leu27221=)
c.63277C>T (p.Leu21093=)
c.84772C>T (p.Leu28258=)
c.84769C>T (p.Leu28257=)
c.84202C>T (p.Leu28068=)
c.81544C>T (p.Leu27182=)
c.81463C>T (p.Leu27155=)
c.63226C>T (p.Leu21076=)
c.53080C>T (p.Leu17694=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178552569G>CCA349511760TTN,TTN-AS1c.82627C>G (p.Leu27543Val)
c.63712C>G (p.Leu21238Val)
c.63511C>G (p.Leu21171Val)
c.63136C>G (p.Leu21046Val)
c.90331C>G (p.Leu30111Val)
c.85408C>G (p.Leu28470Val)
n.447-18731G>C
n.2043+10208G>C
c.89428C>G (p.Leu29810Val)
c.63322C>G (p.Leu21108Val)
c.63181C>G (p.Leu21061Val)
c.89224C>G (p.Leu29742Val)
c.84622C>G (p.Leu28208Val)
c.84619C>G (p.Leu28207Val)
c.81661C>G (p.Leu27221Val)
c.63277C>G (p.Leu21093Val)
c.84772C>G (p.Leu28258Val)
c.84769C>G (p.Leu28257Val)
c.84202C>G (p.Leu28068Val)
c.81544C>G (p.Leu27182Val)
c.81463C>G (p.Leu27155Val)
c.63226C>G (p.Leu21076Val)
c.53080C>G (p.Leu17694Val)
2g.178552569G=CA1310522123TTN,TTN-AS1c.82627C= (p.Leu27543=)
c.63712C= (p.Leu21238=)
c.63511C= (p.Leu21171=)
c.63136C= (p.Leu21046=)
c.90331C= (p.Leu30111=)
c.85408C= (p.Leu28470=)
n.447-18731G=
n.2043+10208G=
c.89428C= (p.Leu29810=)
c.63322C= (p.Leu21108=)
c.63181C= (p.Leu21061=)
c.89224C= (p.Leu29742=)
c.84622C= (p.Leu28208=)
c.84619C= (p.Leu28207=)
c.81661C= (p.Leu27221=)
c.63277C= (p.Leu21093=)
c.84772C= (p.Leu28258=)
c.84769C= (p.Leu28257=)
c.84202C= (p.Leu28068=)
c.81544C= (p.Leu27182=)
c.81463C= (p.Leu27155=)
c.63226C= (p.Leu21076=)
c.53080C= (p.Leu17694=)
2g.178552569G>TCA349511762TTN,TTN-AS1c.82627C>A (p.Leu27543Met)
c.63712C>A (p.Leu21238Met)
c.63511C>A (p.Leu21171Met)
c.63136C>A (p.Leu21046Met)
c.90331C>A (p.Leu30111Met)
c.85408C>A (p.Leu28470Met)
n.447-18731G>T
n.2043+10208G>T
c.89428C>A (p.Leu29810Met)
c.63322C>A (p.Leu21108Met)
c.63181C>A (p.Leu21061Met)
c.89224C>A (p.Leu29742Met)
c.84622C>A (p.Leu28208Met)
c.84619C>A (p.Leu28207Met)
c.81661C>A (p.Leu27221Met)
c.63277C>A (p.Leu21093Met)
c.84772C>A (p.Leu28258Met)
c.84769C>A (p.Leu28257Met)
c.84202C>A (p.Leu28068Met)
c.81544C>A (p.Leu27182Met)
c.81463C>A (p.Leu27155Met)
c.63226C>A (p.Leu21076Met)
c.53080C>A (p.Leu17694Met)
2g.178552570T>ACA430245467TTN,TTN-AS1c.82626A>T (p.Gly27542=)
c.63711A>T (p.Gly21237=)
c.63510A>T (p.Gly21170=)
c.63135A>T (p.Gly21045=)
c.90330A>T (p.Gly30110=)
c.85407A>T (p.Gly28469=)
n.447-18730T>A
n.2043+10209T>A
c.89427A>T (p.Gly29809=)
c.63321A>T (p.Gly21107=)
c.63180A>T (p.Gly21060=)
c.89223A>T (p.Gly29741=)
c.84621A>T (p.Gly28207=)
c.84618A>T (p.Gly28206=)
c.81660A>T (p.Gly27220=)
c.63276A>T (p.Gly21092=)
c.84771A>T (p.Gly28257=)
c.84768A>T (p.Gly28256=)
c.84201A>T (p.Gly28067=)
c.81543A>T (p.Gly27181=)
c.81462A>T (p.Gly27154=)
c.63225A>T (p.Gly21075=)
c.53079A>T (p.Gly17693=)
2g.178552570T>CCA430245468TTN,TTN-AS1c.82626A>G (p.Gly27542=)
c.63711A>G (p.Gly21237=)
c.63510A>G (p.Gly21170=)
c.63135A>G (p.Gly21045=)
c.90330A>G (p.Gly30110=)
c.85407A>G (p.Gly28469=)
n.447-18730T>C
n.2043+10209T>C
c.89427A>G (p.Gly29809=)
c.63321A>G (p.Gly21107=)
c.63180A>G (p.Gly21060=)
c.89223A>G (p.Gly29741=)
c.84621A>G (p.Gly28207=)
c.84618A>G (p.Gly28206=)
c.81660A>G (p.Gly27220=)
c.63276A>G (p.Gly21092=)
c.84771A>G (p.Gly28257=)
c.84768A>G (p.Gly28256=)
c.84201A>G (p.Gly28067=)
c.81543A>G (p.Gly27181=)
c.81462A>G (p.Gly27154=)
c.63225A>G (p.Gly21075=)
c.53079A>G (p.Gly17693=)
2g.178552570T>GCA430245469TTN,TTN-AS1c.82626A>C (p.Gly27542=)
c.63711A>C (p.Gly21237=)
c.63510A>C (p.Gly21170=)
c.63135A>C (p.Gly21045=)
c.90330A>C (p.Gly30110=)
c.85407A>C (p.Gly28469=)
n.447-18730T>G
n.2043+10209T>G
c.89427A>C (p.Gly29809=)
c.63321A>C (p.Gly21107=)
c.63180A>C (p.Gly21060=)
c.89223A>C (p.Gly29741=)
c.84621A>C (p.Gly28207=)
c.84618A>C (p.Gly28206=)
c.81660A>C (p.Gly27220=)
c.63276A>C (p.Gly21092=)
c.84771A>C (p.Gly28257=)
c.84768A>C (p.Gly28256=)
c.84201A>C (p.Gly28067=)
c.81543A>C (p.Gly27181=)
c.81462A>C (p.Gly27154=)
c.63225A>C (p.Gly21075=)
c.53079A>C (p.Gly17693=)
2g.178552571C>ACA349511766TTN,TTN-AS1c.82625G>T (p.Gly27542Val)
c.63710G>T (p.Gly21237Val)
c.63509G>T (p.Gly21170Val)
c.63134G>T (p.Gly21045Val)
c.90329G>T (p.Gly30110Val)
c.85406G>T (p.Gly28469Val)
n.447-18729C>A
n.2043+10210C>A
c.89426G>T (p.Gly29809Val)
c.63320G>T (p.Gly21107Val)
c.63179G>T (p.Gly21060Val)
c.89222G>T (p.Gly29741Val)
c.84620G>T (p.Gly28207Val)
c.84617G>T (p.Gly28206Val)
c.81659G>T (p.Gly27220Val)
c.63275G>T (p.Gly21092Val)
c.84770G>T (p.Gly28257Val)
c.84767G>T (p.Gly28256Val)
c.84200G>T (p.Gly28067Val)
c.81542G>T (p.Gly27181Val)
c.81461G>T (p.Gly27154Val)
c.63224G>T (p.Gly21075Val)
c.53078G>T (p.Gly17693Val)
2g.178552571C>GCA349511807TTN,TTN-AS1c.82625G>C (p.Gly27542Ala)
c.63710G>C (p.Gly21237Ala)
c.63509G>C (p.Gly21170Ala)
c.63134G>C (p.Gly21045Ala)
c.90329G>C (p.Gly30110Ala)
c.85406G>C (p.Gly28469Ala)
n.447-18729C>G
n.2043+10210C>G
c.89426G>C (p.Gly29809Ala)
c.63320G>C (p.Gly21107Ala)
c.63179G>C (p.Gly21060Ala)
c.89222G>C (p.Gly29741Ala)
c.84620G>C (p.Gly28207Ala)
c.84617G>C (p.Gly28206Ala)
c.81659G>C (p.Gly27220Ala)
c.63275G>C (p.Gly21092Ala)
c.84770G>C (p.Gly28257Ala)
c.84767G>C (p.Gly28256Ala)
c.84200G>C (p.Gly28067Ala)
c.81542G>C (p.Gly27181Ala)
c.81461G>C (p.Gly27154Ala)
c.63224G>C (p.Gly21075Ala)
c.53078G>C (p.Gly17693Ala)
2g.178552571C>TCA349511769TTN,TTN-AS1c.82625G>A (p.Gly27542Glu)
c.63710G>A (p.Gly21237Glu)
c.63509G>A (p.Gly21170Glu)
c.63134G>A (p.Gly21045Glu)
c.90329G>A (p.Gly30110Glu)
c.85406G>A (p.Gly28469Glu)
n.447-18729C>T
n.2043+10210C>T
c.89426G>A (p.Gly29809Glu)
c.63320G>A (p.Gly21107Glu)
c.63179G>A (p.Gly21060Glu)
c.89222G>A (p.Gly29741Glu)
c.84620G>A (p.Gly28207Glu)
c.84617G>A (p.Gly28206Glu)
c.81659G>A (p.Gly27220Glu)
c.63275G>A (p.Gly21092Glu)
c.84770G>A (p.Gly28257Glu)
c.84767G>A (p.Gly28256Glu)
c.84200G>A (p.Gly28067Glu)
c.81542G>A (p.Gly27181Glu)
c.81461G>A (p.Gly27154Glu)
c.63224G>A (p.Gly21075Glu)
c.53078G>A (p.Gly17693Glu)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178552572C>ACA349511812TTN,TTN-AS1c.82624G>T (p.Gly27542Ter)
c.63709G>T (p.Gly21237Ter)
c.63508G>T (p.Gly21170Ter)
c.63133G>T (p.Gly21045Ter)
c.90328G>T (p.Gly30110Ter)
c.85405G>T (p.Gly28469Ter)
n.447-18728C>A
n.2043+10211C>A
c.89425G>T (p.Gly29809Ter)
c.63319G>T (p.Gly21107Ter)
c.63178G>T (p.Gly21060Ter)
c.89221G>T (p.Gly29741Ter)
c.84619G>T (p.Gly28207Ter)
c.84616G>T (p.Gly28206Ter)
c.81658G>T (p.Gly27220Ter)
c.63274G>T (p.Gly21092Ter)
c.84769G>T (p.Gly28257Ter)
c.84766G>T (p.Gly28256Ter)
c.84199G>T (p.Gly28067Ter)
c.81541G>T (p.Gly27181Ter)
c.81460G>T (p.Gly27154Ter)
c.63223G>T (p.Gly21075Ter)
c.53077G>T (p.Gly17693Ter)
 dbSNP gnomAD v2 gnomAD v4
2g.178552572C=CA1310522124TTN,TTN-AS1c.82624G= (p.Gly27542=)
c.63709G= (p.Gly21237=)
c.63508G= (p.Gly21170=)
c.63133G= (p.Gly21045=)
c.90328G= (p.Gly30110=)
c.85405G= (p.Gly28469=)
n.447-18728C=
n.2043+10211C=
c.89425G= (p.Gly29809=)
c.63319G= (p.Gly21107=)
c.63178G= (p.Gly21060=)
c.89221G= (p.Gly29741=)
c.84619G= (p.Gly28207=)
c.84616G= (p.Gly28206=)
c.81658G= (p.Gly27220=)
c.63274G= (p.Gly21092=)
c.84769G= (p.Gly28257=)
c.84766G= (p.Gly28256=)
c.84199G= (p.Gly28067=)
c.81541G= (p.Gly27181=)
c.81460G= (p.Gly27154=)
c.63223G= (p.Gly21075=)
c.53077G= (p.Gly17693=)
2g.178552572C>GCA349511816TTN,TTN-AS1c.82624G>C (p.Gly27542Arg)
c.63709G>C (p.Gly21237Arg)
c.63508G>C (p.Gly21170Arg)
c.63133G>C (p.Gly21045Arg)
c.90328G>C (p.Gly30110Arg)
c.85405G>C (p.Gly28469Arg)
n.447-18728C>G
n.2043+10211C>G
c.89425G>C (p.Gly29809Arg)
c.63319G>C (p.Gly21107Arg)
c.63178G>C (p.Gly21060Arg)
c.89221G>C (p.Gly29741Arg)
c.84619G>C (p.Gly28207Arg)
c.84616G>C (p.Gly28206Arg)
c.81658G>C (p.Gly27220Arg)
c.63274G>C (p.Gly21092Arg)
c.84769G>C (p.Gly28257Arg)
c.84766G>C (p.Gly28256Arg)
c.84199G>C (p.Gly28067Arg)
c.81541G>C (p.Gly27181Arg)
c.81460G>C (p.Gly27154Arg)
c.63223G>C (p.Gly21075Arg)
c.53077G>C (p.Gly17693Arg)
2g.178552572C>TCA349511813TTN,TTN-AS1c.82624G>A (p.Gly27542Arg)
c.63709G>A (p.Gly21237Arg)
c.63508G>A (p.Gly21170Arg)
c.63133G>A (p.Gly21045Arg)
c.90328G>A (p.Gly30110Arg)
c.85405G>A (p.Gly28469Arg)
n.447-18728C>T
n.2043+10211C>T
c.89425G>A (p.Gly29809Arg)
c.63319G>A (p.Gly21107Arg)
c.63178G>A (p.Gly21060Arg)
c.89221G>A (p.Gly29741Arg)
c.84619G>A (p.Gly28207Arg)
c.84616G>A (p.Gly28206Arg)
c.81658G>A (p.Gly27220Arg)
c.63274G>A (p.Gly21092Arg)
c.84769G>A (p.Gly28257Arg)
c.84766G>A (p.Gly28256Arg)
c.84199G>A (p.Gly28067Arg)
c.81541G>A (p.Gly27181Arg)
c.81460G>A (p.Gly27154Arg)
c.63223G>A (p.Gly21075Arg)
c.53077G>A (p.Gly17693Arg)

Number of alleles fetched