Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178552558A>C | CA430245452 | TTN,TTN-AS1 | c.82638T>G (p.Pro27546=) c.63723T>G (p.Pro21241=) c.63522T>G (p.Pro21174=) c.63147T>G (p.Pro21049=) c.90342T>G (p.Pro30114=) c.85419T>G (p.Pro28473=) n.447-18742A>C n.2043+10197A>C c.89439T>G (p.Pro29813=) c.63333T>G (p.Pro21111=) c.63192T>G (p.Pro21064=) c.89235T>G (p.Pro29745=) c.84633T>G (p.Pro28211=) c.84630T>G (p.Pro28210=) c.81672T>G (p.Pro27224=) c.63288T>G (p.Pro21096=) c.84783T>G (p.Pro28261=) c.84780T>G (p.Pro28260=) c.84213T>G (p.Pro28071=) c.81555T>G (p.Pro27185=) c.81474T>G (p.Pro27158=) c.63237T>G (p.Pro21079=) c.53091T>G (p.Pro17697=) | |
2 | g.178552558A>G | CA430245454 | TTN,TTN-AS1 | c.82638T>C (p.Pro27546=) c.63723T>C (p.Pro21241=) c.63522T>C (p.Pro21174=) c.63147T>C (p.Pro21049=) c.90342T>C (p.Pro30114=) c.85419T>C (p.Pro28473=) n.447-18742A>G n.2043+10197A>G c.89439T>C (p.Pro29813=) c.63333T>C (p.Pro21111=) c.63192T>C (p.Pro21064=) c.89235T>C (p.Pro29745=) c.84633T>C (p.Pro28211=) c.84630T>C (p.Pro28210=) c.81672T>C (p.Pro27224=) c.63288T>C (p.Pro21096=) c.84783T>C (p.Pro28261=) c.84780T>C (p.Pro28260=) c.84213T>C (p.Pro28071=) c.81555T>C (p.Pro27185=) c.81474T>C (p.Pro27158=) c.63237T>C (p.Pro21079=) c.53091T>C (p.Pro17697=) | |
2 | g.178552558A>T | CA430245453 | TTN,TTN-AS1 | c.82638T>A (p.Pro27546=) c.63723T>A (p.Pro21241=) c.63522T>A (p.Pro21174=) c.63147T>A (p.Pro21049=) c.90342T>A (p.Pro30114=) c.85419T>A (p.Pro28473=) n.447-18742A>T n.2043+10197A>T c.89439T>A (p.Pro29813=) c.63333T>A (p.Pro21111=) c.63192T>A (p.Pro21064=) c.89235T>A (p.Pro29745=) c.84633T>A (p.Pro28211=) c.84630T>A (p.Pro28210=) c.81672T>A (p.Pro27224=) c.63288T>A (p.Pro21096=) c.84783T>A (p.Pro28261=) c.84780T>A (p.Pro28260=) c.84213T>A (p.Pro28071=) c.81555T>A (p.Pro27185=) c.81474T>A (p.Pro27158=) c.63237T>A (p.Pro21079=) c.53091T>A (p.Pro17697=) | |
2 | g.178552559G>A | CA349511648 | TTN,TTN-AS1 | c.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) | |
2 | g.178552559G>C | CA349511650 | TTN,TTN-AS1 | c.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) | |
2 | g.178552559G>T | CA349511653 | TTN,TTN-AS1 | c.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) | |
2 | g.178552560G>A | CA1987800 | TTN,TTN-AS1 | c.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 |
2 | g.178552560G>C | CA349511659 | TTN,TTN-AS1 | c.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) | |
2 | g.178552560G= | CA1310522112 | TTN,TTN-AS1 | c.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=) | |
2 | g.178552560G>T | CA349511660 | TTN,TTN-AS1 | c.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) | |
2 | g.178552561A>C | CA349511662 | TTN,TTN-AS1 | c.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) | |
2 | g.178552561A>G | CA430245456 | TTN,TTN-AS1 | c.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=) | |
2 | g.178552561A>T | CA349511666 | TTN,TTN-AS1 | c.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) | |
2 | g.178552562T>A | CA349511671 | TTN,TTN-AS1 | c.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) | |
2 | g.178552562T>C | CA349511677 | TTN,TTN-AS1 | c.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 |
2 | g.178552562T>G | CA349511687 | TTN,TTN-AS1 | c.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) | |
2 | g.178552562T= | CA1310522114 | TTN,TTN-AS1 | c.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=) | |
2 | g.178552563C>A | CA349511699 | TTN,TTN-AS1 | c.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) | |
2 | g.178552563C= | CA1310522116 | TTN,TTN-AS1 | c.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=) | |
2 | g.178552563C>G | CA349511698 | TTN,TTN-AS1 | c.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) | |
2 | g.178552563C>T | CA349511692 | TTN,TTN-AS1 | c.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 |
2 | g.178552564A= | CA1310522117 | TTN,TTN-AS1 | c.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=) | |
2 | g.178552564A>C | CA349511701 | TTN,TTN-AS1 | c.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) | |
2 | g.178552564A>G | CA430245458 | TTN,TTN-AS1 | c.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 |
2 | g.178552564A>T | CA349511703 | TTN,TTN-AS1 | c.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) | |
2 | g.178552565C>A | CA349511705 | TTN,TTN-AS1 | c.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) | |
2 | g.178552565C>G | CA349511713 | TTN,TTN-AS1 | c.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) | |
2 | g.178552565C>T | CA349511717 | TTN,TTN-AS1 | c.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) | |
2 | g.178552566T>A | CA349511722 | TTN,TTN-AS1 | c.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) | |
2 | g.178552566T>C | CA349511724 | TTN,TTN-AS1 | c.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) | |
2 | g.178552566T>G | CA349511738 | TTN,TTN-AS1 | c.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) | |
2 | g.178552567C>A | CA430245461 | TTN,TTN-AS1 | c.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=) | |
2 | g.178552567C= | CA1310522119 | TTN,TTN-AS1 | c.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=) | |
2 | g.178552567C>G | CA430245462 | TTN,TTN-AS1 | c.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 |
2 | g.178552567C>T | CA430245463 | TTN,TTN-AS1 | c.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=) | |
2 | g.178552568A= | CA1310522121 | TTN,TTN-AS1 | c.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=) | |
2 | g.178552568A>C | CA349511739 | TTN,TTN-AS1 | c.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) | |
2 | g.178552568A>G | CA1987801 | TTN,TTN-AS1 | c.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 |
2 | g.178552568A>T | CA349511748 | TTN,TTN-AS1 | c.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) | |
2 | g.178552569G>A | CA430245466 | TTN,TTN-AS1 | c.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 |
2 | g.178552569G>C | CA349511760 | TTN,TTN-AS1 | c.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) | |
2 | g.178552569G= | CA1310522123 | TTN,TTN-AS1 | c.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=) | |
2 | g.178552569G>T | CA349511762 | TTN,TTN-AS1 | c.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) | |
2 | g.178552570T>A | CA430245467 | TTN,TTN-AS1 | c.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=) | |
2 | g.178552570T>C | CA430245468 | TTN,TTN-AS1 | c.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=) | |
2 | g.178552570T>G | CA430245469 | TTN,TTN-AS1 | c.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=) | |
2 | g.178552571C>A | CA349511766 | TTN,TTN-AS1 | c.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) | |
2 | g.178552571C>G | CA349511807 | TTN,TTN-AS1 | c.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) | |
2 | g.178552571C>T | CA349511769 | TTN,TTN-AS1 | c.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 |
2 | g.178552572C>A | CA349511812 | TTN,TTN-AS1 | c.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 |