Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178544209T>ACA349454839TTN,TTN-AS1c.88316A>T (p.Glu29439Val)
c.69401A>T (p.Glu23134Val)
c.69200A>T (p.Glu23067Val)
c.68825A>T (p.Glu22942Val)
c.96020A>T (p.Glu32007Val)
c.91097A>T (p.Glu30366Val)
n.446+20573T>A
n.2043+1848T>A
c.95117A>T (p.Glu31706Val)
c.69011A>T (p.Glu23004Val)
c.68870A>T (p.Glu22957Val)
c.94913A>T (p.Glu31638Val)
c.90311A>T (p.Glu30104Val)
c.90308A>T (p.Glu30103Val)
c.87350A>T (p.Glu29117Val)
c.68966A>T (p.Glu22989Val)
c.90461A>T (p.Glu30154Val)
c.90458A>T (p.Glu30153Val)
c.89891A>T (p.Glu29964Val)
c.87233A>T (p.Glu29078Val)
c.87152A>T (p.Glu29051Val)
c.68915A>T (p.Glu22972Val)
c.58769A>T (p.Glu19590Val)
2g.178544209T>CCA349454837TTN,TTN-AS1c.88316A>G (p.Glu29439Gly)
c.69401A>G (p.Glu23134Gly)
c.69200A>G (p.Glu23067Gly)
c.68825A>G (p.Glu22942Gly)
c.96020A>G (p.Glu32007Gly)
c.91097A>G (p.Glu30366Gly)
n.446+20573T>C
n.2043+1848T>C
c.95117A>G (p.Glu31706Gly)
c.69011A>G (p.Glu23004Gly)
c.68870A>G (p.Glu22957Gly)
c.94913A>G (p.Glu31638Gly)
c.90311A>G (p.Glu30104Gly)
c.90308A>G (p.Glu30103Gly)
c.87350A>G (p.Glu29117Gly)
c.68966A>G (p.Glu22989Gly)
c.90461A>G (p.Glu30154Gly)
c.90458A>G (p.Glu30153Gly)
c.89891A>G (p.Glu29964Gly)
c.87233A>G (p.Glu29078Gly)
c.87152A>G (p.Glu29051Gly)
c.68915A>G (p.Glu22972Gly)
c.58769A>G (p.Glu19590Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178544209T>GCA349454829TTN,TTN-AS1c.88316A>C (p.Glu29439Ala)
c.69401A>C (p.Glu23134Ala)
c.69200A>C (p.Glu23067Ala)
c.68825A>C (p.Glu22942Ala)
c.96020A>C (p.Glu32007Ala)
c.91097A>C (p.Glu30366Ala)
n.446+20573T>G
n.2043+1848T>G
c.95117A>C (p.Glu31706Ala)
c.69011A>C (p.Glu23004Ala)
c.68870A>C (p.Glu22957Ala)
c.94913A>C (p.Glu31638Ala)
c.90311A>C (p.Glu30104Ala)
c.90308A>C (p.Glu30103Ala)
c.87350A>C (p.Glu29117Ala)
c.68966A>C (p.Glu22989Ala)
c.90461A>C (p.Glu30154Ala)
c.90458A>C (p.Glu30153Ala)
c.89891A>C (p.Glu29964Ala)
c.87233A>C (p.Glu29078Ala)
c.87152A>C (p.Glu29051Ala)
c.68915A>C (p.Glu22972Ala)
c.58769A>C (p.Glu19590Ala)
2g.178544209T=CA1310521416TTN,TTN-AS1c.88316A= (p.Glu29439=)
c.69401A= (p.Glu23134=)
c.69200A= (p.Glu23067=)
c.68825A= (p.Glu22942=)
c.96020A= (p.Glu32007=)
c.91097A= (p.Glu30366=)
n.446+20573T=
n.2043+1848T=
c.95117A= (p.Glu31706=)
c.69011A= (p.Glu23004=)
c.68870A= (p.Glu22957=)
c.94913A= (p.Glu31638=)
c.90311A= (p.Glu30104=)
c.90308A= (p.Glu30103=)
c.87350A= (p.Glu29117=)
c.68966A= (p.Glu22989=)
c.90461A= (p.Glu30154=)
c.90458A= (p.Glu30153=)
c.89891A= (p.Glu29964=)
c.87233A= (p.Glu29078=)
c.87152A= (p.Glu29051=)
c.68915A= (p.Glu22972=)
c.58769A= (p.Glu19590=)
2g.178544210C>ACA349454865TTN,TTN-AS1c.88315G>T (p.Glu29439Ter)
c.69400G>T (p.Glu23134Ter)
c.69199G>T (p.Glu23067Ter)
c.68824G>T (p.Glu22942Ter)
c.96019G>T (p.Glu32007Ter)
c.91096G>T (p.Glu30366Ter)
n.446+20574C>A
n.2043+1849C>A
c.95116G>T (p.Glu31706Ter)
c.69010G>T (p.Glu23004Ter)
c.68869G>T (p.Glu22957Ter)
c.94912G>T (p.Glu31638Ter)
c.90310G>T (p.Glu30104Ter)
c.90307G>T (p.Glu30103Ter)
c.87349G>T (p.Glu29117Ter)
c.68965G>T (p.Glu22989Ter)
c.90460G>T (p.Glu30154Ter)
c.90457G>T (p.Glu30153Ter)
c.89890G>T (p.Glu29964Ter)
c.87232G>T (p.Glu29078Ter)
c.87151G>T (p.Glu29051Ter)
c.68914G>T (p.Glu22972Ter)
c.58768G>T (p.Glu19590Ter)
2g.178544210C>GCA349454867TTN,TTN-AS1c.88315G>C (p.Glu29439Gln)
c.69400G>C (p.Glu23134Gln)
c.69199G>C (p.Glu23067Gln)
c.68824G>C (p.Glu22942Gln)
c.96019G>C (p.Glu32007Gln)
c.91096G>C (p.Glu30366Gln)
n.446+20574C>G
n.2043+1849C>G
c.95116G>C (p.Glu31706Gln)
c.69010G>C (p.Glu23004Gln)
c.68869G>C (p.Glu22957Gln)
c.94912G>C (p.Glu31638Gln)
c.90310G>C (p.Glu30104Gln)
c.90307G>C (p.Glu30103Gln)
c.87349G>C (p.Glu29117Gln)
c.68965G>C (p.Glu22989Gln)
c.90460G>C (p.Glu30154Gln)
c.90457G>C (p.Glu30153Gln)
c.89890G>C (p.Glu29964Gln)
c.87232G>C (p.Glu29078Gln)
c.87151G>C (p.Glu29051Gln)
c.68914G>C (p.Glu22972Gln)
c.58768G>C (p.Glu19590Gln)
2g.178544210C>TCA349454866TTN,TTN-AS1c.88315G>A (p.Glu29439Lys)
c.69400G>A (p.Glu23134Lys)
c.69199G>A (p.Glu23067Lys)
c.68824G>A (p.Glu22942Lys)
c.96019G>A (p.Glu32007Lys)
c.91096G>A (p.Glu30366Lys)
n.446+20574C>T
n.2043+1849C>T
c.95116G>A (p.Glu31706Lys)
c.69010G>A (p.Glu23004Lys)
c.68869G>A (p.Glu22957Lys)
c.94912G>A (p.Glu31638Lys)
c.90310G>A (p.Glu30104Lys)
c.90307G>A (p.Glu30103Lys)
c.87349G>A (p.Glu29117Lys)
c.68965G>A (p.Glu22989Lys)
c.90460G>A (p.Glu30154Lys)
c.90457G>A (p.Glu30153Lys)
c.89890G>A (p.Glu29964Lys)
c.87232G>A (p.Glu29078Lys)
c.87151G>A (p.Glu29051Lys)
c.68914G>A (p.Glu22972Lys)
c.58768G>A (p.Glu19590Lys)
2g.178544211C>ACA430241631TTN,TTN-AS1c.88314G>T (p.Val29438=)
c.69399G>T (p.Val23133=)
c.69198G>T (p.Val23066=)
c.68823G>T (p.Val22941=)
c.96018G>T (p.Val32006=)
c.91095G>T (p.Val30365=)
n.446+20575C>A
n.2043+1850C>A
c.95115G>T (p.Val31705=)
c.69009G>T (p.Val23003=)
c.68868G>T (p.Val22956=)
c.94911G>T (p.Val31637=)
c.90309G>T (p.Val30103=)
c.90306G>T (p.Val30102=)
c.87348G>T (p.Val29116=)
c.68964G>T (p.Val22988=)
c.90459G>T (p.Val30153=)
c.90456G>T (p.Val30152=)
c.89889G>T (p.Val29963=)
c.87231G>T (p.Val29077=)
c.87150G>T (p.Val29050=)
c.68913G>T (p.Val22971=)
c.58767G>T (p.Val19589=)
2g.178544211C>GCA430241633TTN,TTN-AS1c.88314G>C (p.Val29438=)
c.69399G>C (p.Val23133=)
c.69198G>C (p.Val23066=)
c.68823G>C (p.Val22941=)
c.96018G>C (p.Val32006=)
c.91095G>C (p.Val30365=)
n.446+20575C>G
n.2043+1850C>G
c.95115G>C (p.Val31705=)
c.69009G>C (p.Val23003=)
c.68868G>C (p.Val22956=)
c.94911G>C (p.Val31637=)
c.90309G>C (p.Val30103=)
c.90306G>C (p.Val30102=)
c.87348G>C (p.Val29116=)
c.68964G>C (p.Val22988=)
c.90459G>C (p.Val30153=)
c.90456G>C (p.Val30152=)
c.89889G>C (p.Val29963=)
c.87231G>C (p.Val29077=)
c.87150G>C (p.Val29050=)
c.68913G>C (p.Val22971=)
c.58767G>C (p.Val19589=)
2g.178544211C>TCA430241637TTN,TTN-AS1c.88314G>A (p.Val29438=)
c.69399G>A (p.Val23133=)
c.69198G>A (p.Val23066=)
c.68823G>A (p.Val22941=)
c.96018G>A (p.Val32006=)
c.91095G>A (p.Val30365=)
n.446+20575C>T
n.2043+1850C>T
c.95115G>A (p.Val31705=)
c.69009G>A (p.Val23003=)
c.68868G>A (p.Val22956=)
c.94911G>A (p.Val31637=)
c.90309G>A (p.Val30103=)
c.90306G>A (p.Val30102=)
c.87348G>A (p.Val29116=)
c.68964G>A (p.Val22988=)
c.90459G>A (p.Val30153=)
c.90456G>A (p.Val30152=)
c.89889G>A (p.Val29963=)
c.87231G>A (p.Val29077=)
c.87150G>A (p.Val29050=)
c.68913G>A (p.Val22971=)
c.58767G>A (p.Val19589=)
2g.178544212A=CA1310521418TTN,TTN-AS1c.88313T= (p.Val29438=)
c.69398T= (p.Val23133=)
c.69197T= (p.Val23066=)
c.68822T= (p.Val22941=)
c.96017T= (p.Val32006=)
c.91094T= (p.Val30365=)
n.446+20576A=
n.2043+1851A=
c.95114T= (p.Val31705=)
c.69008T= (p.Val23003=)
c.68867T= (p.Val22956=)
c.94910T= (p.Val31637=)
c.90308T= (p.Val30103=)
c.90305T= (p.Val30102=)
c.87347T= (p.Val29116=)
c.68963T= (p.Val22988=)
c.90458T= (p.Val30153=)
c.90455T= (p.Val30152=)
c.89888T= (p.Val29963=)
c.87230T= (p.Val29077=)
c.87149T= (p.Val29050=)
c.68912T= (p.Val22971=)
c.58766T= (p.Val19589=)
2g.178544212A>CCA349454869TTN,TTN-AS1c.88313T>G (p.Val29438Gly)
c.69398T>G (p.Val23133Gly)
c.69197T>G (p.Val23066Gly)
c.68822T>G (p.Val22941Gly)
c.96017T>G (p.Val32006Gly)
c.91094T>G (p.Val30365Gly)
n.446+20576A>C
n.2043+1851A>C
c.95114T>G (p.Val31705Gly)
c.69008T>G (p.Val23003Gly)
c.68867T>G (p.Val22956Gly)
c.94910T>G (p.Val31637Gly)
c.90308T>G (p.Val30103Gly)
c.90305T>G (p.Val30102Gly)
c.87347T>G (p.Val29116Gly)
c.68963T>G (p.Val22988Gly)
c.90458T>G (p.Val30153Gly)
c.90455T>G (p.Val30152Gly)
c.89888T>G (p.Val29963Gly)
c.87230T>G (p.Val29077Gly)
c.87149T>G (p.Val29050Gly)
c.68912T>G (p.Val22971Gly)
c.58766T>G (p.Val19589Gly)
2g.178544212A>GCA60970498TTN,TTN-AS1c.88313T>C (p.Val29438Ala)
c.69398T>C (p.Val23133Ala)
c.69197T>C (p.Val23066Ala)
c.68822T>C (p.Val22941Ala)
c.96017T>C (p.Val32006Ala)
c.91094T>C (p.Val30365Ala)
n.446+20576A>G
n.2043+1851A>G
c.95114T>C (p.Val31705Ala)
c.69008T>C (p.Val23003Ala)
c.68867T>C (p.Val22956Ala)
c.94910T>C (p.Val31637Ala)
c.90308T>C (p.Val30103Ala)
c.90305T>C (p.Val30102Ala)
c.87347T>C (p.Val29116Ala)
c.68963T>C (p.Val22988Ala)
c.90458T>C (p.Val30153Ala)
c.90455T>C (p.Val30152Ala)
c.89888T>C (p.Val29963Ala)
c.87230T>C (p.Val29077Ala)
c.87149T>C (p.Val29050Ala)
c.68912T>C (p.Val22971Ala)
c.58766T>C (p.Val19589Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178544212A>TCA349454870TTN,TTN-AS1c.88313T>A (p.Val29438Glu)
c.69398T>A (p.Val23133Glu)
c.69197T>A (p.Val23066Glu)
c.68822T>A (p.Val22941Glu)
c.96017T>A (p.Val32006Glu)
c.91094T>A (p.Val30365Glu)
n.446+20576A>T
n.2043+1851A>T
c.95114T>A (p.Val31705Glu)
c.69008T>A (p.Val23003Glu)
c.68867T>A (p.Val22956Glu)
c.94910T>A (p.Val31637Glu)
c.90308T>A (p.Val30103Glu)
c.90305T>A (p.Val30102Glu)
c.87347T>A (p.Val29116Glu)
c.68963T>A (p.Val22988Glu)
c.90458T>A (p.Val30153Glu)
c.90455T>A (p.Val30152Glu)
c.89888T>A (p.Val29963Glu)
c.87230T>A (p.Val29077Glu)
c.87149T>A (p.Val29050Glu)
c.68912T>A (p.Val22971Glu)
c.58766T>A (p.Val19589Glu)
2g.178544213C>ACA349454875TTN,TTN-AS1c.88312G>T (p.Val29438Leu)
c.69397G>T (p.Val23133Leu)
c.69196G>T (p.Val23066Leu)
c.68821G>T (p.Val22941Leu)
c.96016G>T (p.Val32006Leu)
c.91093G>T (p.Val30365Leu)
n.446+20577C>A
n.2043+1852C>A
c.95113G>T (p.Val31705Leu)
c.69007G>T (p.Val23003Leu)
c.68866G>T (p.Val22956Leu)
c.94909G>T (p.Val31637Leu)
c.90307G>T (p.Val30103Leu)
c.90304G>T (p.Val30102Leu)
c.87346G>T (p.Val29116Leu)
c.68962G>T (p.Val22988Leu)
c.90457G>T (p.Val30153Leu)
c.90454G>T (p.Val30152Leu)
c.89887G>T (p.Val29963Leu)
c.87229G>T (p.Val29077Leu)
c.87148G>T (p.Val29050Leu)
c.68911G>T (p.Val22971Leu)
c.58765G>T (p.Val19589Leu)
2g.178544213C=CA1310521421TTN,TTN-AS1c.88312G= (p.Val29438=)
c.69397G= (p.Val23133=)
c.69196G= (p.Val23066=)
c.68821G= (p.Val22941=)
c.96016G= (p.Val32006=)
c.91093G= (p.Val30365=)
n.446+20577C=
n.2043+1852C=
c.95113G= (p.Val31705=)
c.69007G= (p.Val23003=)
c.68866G= (p.Val22956=)
c.94909G= (p.Val31637=)
c.90307G= (p.Val30103=)
c.90304G= (p.Val30102=)
c.87346G= (p.Val29116=)
c.68962G= (p.Val22988=)
c.90457G= (p.Val30153=)
c.90454G= (p.Val30152=)
c.89887G= (p.Val29963=)
c.87229G= (p.Val29077=)
c.87148G= (p.Val29050=)
c.68911G= (p.Val22971=)
c.58765G= (p.Val19589=)
2g.178544213C>GCA349454903TTN,TTN-AS1c.88312G>C (p.Val29438Leu)
c.69397G>C (p.Val23133Leu)
c.69196G>C (p.Val23066Leu)
c.68821G>C (p.Val22941Leu)
c.96016G>C (p.Val32006Leu)
c.91093G>C (p.Val30365Leu)
n.446+20577C>G
n.2043+1852C>G
c.95113G>C (p.Val31705Leu)
c.69007G>C (p.Val23003Leu)
c.68866G>C (p.Val22956Leu)
c.94909G>C (p.Val31637Leu)
c.90307G>C (p.Val30103Leu)
c.90304G>C (p.Val30102Leu)
c.87346G>C (p.Val29116Leu)
c.68962G>C (p.Val22988Leu)
c.90457G>C (p.Val30153Leu)
c.90454G>C (p.Val30152Leu)
c.89887G>C (p.Val29963Leu)
c.87229G>C (p.Val29077Leu)
c.87148G>C (p.Val29050Leu)
c.68911G>C (p.Val22971Leu)
c.58765G>C (p.Val19589Leu)
2g.178544213C>TCA310995TTN,TTN-AS1c.88312G>A (p.Val29438Met)
c.69397G>A (p.Val23133Met)
c.69196G>A (p.Val23066Met)
c.68821G>A (p.Val22941Met)
c.96016G>A (p.Val32006Met)
c.91093G>A (p.Val30365Met)
n.446+20577C>T
n.2043+1852C>T
c.95113G>A (p.Val31705Met)
c.69007G>A (p.Val23003Met)
c.68866G>A (p.Val22956Met)
c.94909G>A (p.Val31637Met)
c.90307G>A (p.Val30103Met)
c.90304G>A (p.Val30102Met)
c.87346G>A (p.Val29116Met)
c.68962G>A (p.Val22988Met)
c.90457G>A (p.Val30153Met)
c.90454G>A (p.Val30152Met)
c.89887G>A (p.Val29963Met)
c.87229G>A (p.Val29077Met)
c.87148G>A (p.Val29050Met)
c.68911G>A (p.Val22971Met)
c.58765G>A (p.Val19589Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.178544214G>ACA223989TTN,TTN-AS1c.88311C>T (p.Pro29437=)
c.69396C>T (p.Pro23132=)
c.69195C>T (p.Pro23065=)
c.68820C>T (p.Pro22940=)
c.96015C>T (p.Pro32005=)
c.91092C>T (p.Pro30364=)
n.446+20578G>A
n.2043+1853G>A
c.95112C>T (p.Pro31704=)
c.69006C>T (p.Pro23002=)
c.68865C>T (p.Pro22955=)
c.94908C>T (p.Pro31636=)
c.90306C>T (p.Pro30102=)
c.90303C>T (p.Pro30101=)
c.87345C>T (p.Pro29115=)
c.68961C>T (p.Pro22987=)
c.90456C>T (p.Pro30152=)
c.90453C>T (p.Pro30151=)
c.89886C>T (p.Pro29962=)
c.87228C>T (p.Pro29076=)
c.87147C>T (p.Pro29049=)
c.68910C>T (p.Pro22970=)
c.58764C>T (p.Pro19588=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178544214G>CCA430241640TTN,TTN-AS1c.88311C>G (p.Pro29437=)
c.69396C>G (p.Pro23132=)
c.69195C>G (p.Pro23065=)
c.68820C>G (p.Pro22940=)
c.96015C>G (p.Pro32005=)
c.91092C>G (p.Pro30364=)
n.446+20578G>C
n.2043+1853G>C
c.95112C>G (p.Pro31704=)
c.69006C>G (p.Pro23002=)
c.68865C>G (p.Pro22955=)
c.94908C>G (p.Pro31636=)
c.90306C>G (p.Pro30102=)
c.90303C>G (p.Pro30101=)
c.87345C>G (p.Pro29115=)
c.68961C>G (p.Pro22987=)
c.90456C>G (p.Pro30152=)
c.90453C>G (p.Pro30151=)
c.89886C>G (p.Pro29962=)
c.87228C>G (p.Pro29076=)
c.87147C>G (p.Pro29049=)
c.68910C>G (p.Pro22970=)
c.58764C>G (p.Pro19588=)
2g.178544214G=CA1310521424TTN,TTN-AS1c.88311C= (p.Pro29437=)
c.69396C= (p.Pro23132=)
c.69195C= (p.Pro23065=)
c.68820C= (p.Pro22940=)
c.96015C= (p.Pro32005=)
c.91092C= (p.Pro30364=)
n.446+20578G=
n.2043+1853G=
c.95112C= (p.Pro31704=)
c.69006C= (p.Pro23002=)
c.68865C= (p.Pro22955=)
c.94908C= (p.Pro31636=)
c.90306C= (p.Pro30102=)
c.90303C= (p.Pro30101=)
c.87345C= (p.Pro29115=)
c.68961C= (p.Pro22987=)
c.90456C= (p.Pro30152=)
c.90453C= (p.Pro30151=)
c.89886C= (p.Pro29962=)
c.87228C= (p.Pro29076=)
c.87147C= (p.Pro29049=)
c.68910C= (p.Pro22970=)
c.58764C= (p.Pro19588=)
2g.178544214G>TCA430241641TTN,TTN-AS1c.88311C>A (p.Pro29437=)
c.69396C>A (p.Pro23132=)
c.69195C>A (p.Pro23065=)
c.68820C>A (p.Pro22940=)
c.96015C>A (p.Pro32005=)
c.91092C>A (p.Pro30364=)
n.446+20578G>T
n.2043+1853G>T
c.95112C>A (p.Pro31704=)
c.69006C>A (p.Pro23002=)
c.68865C>A (p.Pro22955=)
c.94908C>A (p.Pro31636=)
c.90306C>A (p.Pro30102=)
c.90303C>A (p.Pro30101=)
c.87345C>A (p.Pro29115=)
c.68961C>A (p.Pro22987=)
c.90456C>A (p.Pro30152=)
c.90453C>A (p.Pro30151=)
c.89886C>A (p.Pro29962=)
c.87228C>A (p.Pro29076=)
c.87147C>A (p.Pro29049=)
c.68910C>A (p.Pro22970=)
c.58764C>A (p.Pro19588=)
2g.178544215G>ACA349454914TTN,TTN-AS1c.88310C>T (p.Pro29437Leu)
c.69395C>T (p.Pro23132Leu)
c.69194C>T (p.Pro23065Leu)
c.68819C>T (p.Pro22940Leu)
c.96014C>T (p.Pro32005Leu)
c.91091C>T (p.Pro30364Leu)
n.446+20579G>A
n.2043+1854G>A
c.95111C>T (p.Pro31704Leu)
c.69005C>T (p.Pro23002Leu)
c.68864C>T (p.Pro22955Leu)
c.94907C>T (p.Pro31636Leu)
c.90305C>T (p.Pro30102Leu)
c.90302C>T (p.Pro30101Leu)
c.87344C>T (p.Pro29115Leu)
c.68960C>T (p.Pro22987Leu)
c.90455C>T (p.Pro30152Leu)
c.90452C>T (p.Pro30151Leu)
c.89885C>T (p.Pro29962Leu)
c.87227C>T (p.Pro29076Leu)
c.87146C>T (p.Pro29049Leu)
c.68909C>T (p.Pro22970Leu)
c.58763C>T (p.Pro19588Leu)
2g.178544215G>CCA349454918TTN,TTN-AS1c.88310C>G (p.Pro29437Arg)
c.69395C>G (p.Pro23132Arg)
c.69194C>G (p.Pro23065Arg)
c.68819C>G (p.Pro22940Arg)
c.96014C>G (p.Pro32005Arg)
c.91091C>G (p.Pro30364Arg)
n.446+20579G>C
n.2043+1854G>C
c.95111C>G (p.Pro31704Arg)
c.69005C>G (p.Pro23002Arg)
c.68864C>G (p.Pro22955Arg)
c.94907C>G (p.Pro31636Arg)
c.90305C>G (p.Pro30102Arg)
c.90302C>G (p.Pro30101Arg)
c.87344C>G (p.Pro29115Arg)
c.68960C>G (p.Pro22987Arg)
c.90455C>G (p.Pro30152Arg)
c.90452C>G (p.Pro30151Arg)
c.89885C>G (p.Pro29962Arg)
c.87227C>G (p.Pro29076Arg)
c.87146C>G (p.Pro29049Arg)
c.68909C>G (p.Pro22970Arg)
c.58763C>G (p.Pro19588Arg)
2g.178544215G>TCA349454923TTN,TTN-AS1c.88310C>A (p.Pro29437His)
c.69395C>A (p.Pro23132His)
c.69194C>A (p.Pro23065His)
c.68819C>A (p.Pro22940His)
c.96014C>A (p.Pro32005His)
c.91091C>A (p.Pro30364His)
n.446+20579G>T
n.2043+1854G>T
c.95111C>A (p.Pro31704His)
c.69005C>A (p.Pro23002His)
c.68864C>A (p.Pro22955His)
c.94907C>A (p.Pro31636His)
c.90305C>A (p.Pro30102His)
c.90302C>A (p.Pro30101His)
c.87344C>A (p.Pro29115His)
c.68960C>A (p.Pro22987His)
c.90455C>A (p.Pro30152His)
c.90452C>A (p.Pro30151His)
c.89885C>A (p.Pro29962His)
c.87227C>A (p.Pro29076His)
c.87146C>A (p.Pro29049His)
c.68909C>A (p.Pro22970His)
c.58763C>A (p.Pro19588His)
2g.178544216G>ACA349454935TTN,TTN-AS1c.88309C>T (p.Pro29437Ser)
c.69394C>T (p.Pro23132Ser)
c.69193C>T (p.Pro23065Ser)
c.68818C>T (p.Pro22940Ser)
c.96013C>T (p.Pro32005Ser)
c.91090C>T (p.Pro30364Ser)
n.446+20580G>A
n.2043+1855G>A
c.95110C>T (p.Pro31704Ser)
c.69004C>T (p.Pro23002Ser)
c.68863C>T (p.Pro22955Ser)
c.94906C>T (p.Pro31636Ser)
c.90304C>T (p.Pro30102Ser)
c.90301C>T (p.Pro30101Ser)
c.87343C>T (p.Pro29115Ser)
c.68959C>T (p.Pro22987Ser)
c.90454C>T (p.Pro30152Ser)
c.90451C>T (p.Pro30151Ser)
c.89884C>T (p.Pro29962Ser)
c.87226C>T (p.Pro29076Ser)
c.87145C>T (p.Pro29049Ser)
c.68908C>T (p.Pro22970Ser)
c.58762C>T (p.Pro19588Ser)
 gnomAD v4
2g.178544216G>CCA349454928TTN,TTN-AS1c.88309C>G (p.Pro29437Ala)
c.69394C>G (p.Pro23132Ala)
c.69193C>G (p.Pro23065Ala)
c.68818C>G (p.Pro22940Ala)
c.96013C>G (p.Pro32005Ala)
c.91090C>G (p.Pro30364Ala)
n.446+20580G>C
n.2043+1855G>C
c.95110C>G (p.Pro31704Ala)
c.69004C>G (p.Pro23002Ala)
c.68863C>G (p.Pro22955Ala)
c.94906C>G (p.Pro31636Ala)
c.90304C>G (p.Pro30102Ala)
c.90301C>G (p.Pro30101Ala)
c.87343C>G (p.Pro29115Ala)
c.68959C>G (p.Pro22987Ala)
c.90454C>G (p.Pro30152Ala)
c.90451C>G (p.Pro30151Ala)
c.89884C>G (p.Pro29962Ala)
c.87226C>G (p.Pro29076Ala)
c.87145C>G (p.Pro29049Ala)
c.68908C>G (p.Pro22970Ala)
c.58762C>G (p.Pro19588Ala)
2g.178544216G>TCA349454929TTN,TTN-AS1c.88309C>A (p.Pro29437Thr)
c.69394C>A (p.Pro23132Thr)
c.69193C>A (p.Pro23065Thr)
c.68818C>A (p.Pro22940Thr)
c.96013C>A (p.Pro32005Thr)
c.91090C>A (p.Pro30364Thr)
n.446+20580G>T
n.2043+1855G>T
c.95110C>A (p.Pro31704Thr)
c.69004C>A (p.Pro23002Thr)
c.68863C>A (p.Pro22955Thr)
c.94906C>A (p.Pro31636Thr)
c.90304C>A (p.Pro30102Thr)
c.90301C>A (p.Pro30101Thr)
c.87343C>A (p.Pro29115Thr)
c.68959C>A (p.Pro22987Thr)
c.90454C>A (p.Pro30152Thr)
c.90451C>A (p.Pro30151Thr)
c.89884C>A (p.Pro29962Thr)
c.87226C>A (p.Pro29076Thr)
c.87145C>A (p.Pro29049Thr)
c.68908C>A (p.Pro22970Thr)
c.58762C>A (p.Pro19588Thr)
 COSMIC COSMIC COSMIC COSMIC
2g.178544217C>ACA349454940TTN,TTN-AS1c.88308G>T (p.Glu29436Asp)
c.69393G>T (p.Glu23131Asp)
c.69192G>T (p.Glu23064Asp)
c.68817G>T (p.Glu22939Asp)
c.96012G>T (p.Glu32004Asp)
c.91089G>T (p.Glu30363Asp)
n.446+20581C>A
n.2043+1856C>A
c.95109G>T (p.Glu31703Asp)
c.69003G>T (p.Glu23001Asp)
c.68862G>T (p.Glu22954Asp)
c.94905G>T (p.Glu31635Asp)
c.90303G>T (p.Glu30101Asp)
c.90300G>T (p.Glu30100Asp)
c.87342G>T (p.Glu29114Asp)
c.68958G>T (p.Glu22986Asp)
c.90453G>T (p.Glu30151Asp)
c.90450G>T (p.Glu30150Asp)
c.89883G>T (p.Glu29961Asp)
c.87225G>T (p.Glu29075Asp)
c.87144G>T (p.Glu29048Asp)
c.68907G>T (p.Glu22969Asp)
c.58761G>T (p.Glu19587Asp)
2g.178544217C=CA1310521426TTN,TTN-AS1c.88308G= (p.Glu29436=)
c.69393G= (p.Glu23131=)
c.69192G= (p.Glu23064=)
c.68817G= (p.Glu22939=)
c.96012G= (p.Glu32004=)
c.91089G= (p.Glu30363=)
n.446+20581C=
n.2043+1856C=
c.95109G= (p.Glu31703=)
c.69003G= (p.Glu23001=)
c.68862G= (p.Glu22954=)
c.94905G= (p.Glu31635=)
c.90303G= (p.Glu30101=)
c.90300G= (p.Glu30100=)
c.87342G= (p.Glu29114=)
c.68958G= (p.Glu22986=)
c.90453G= (p.Glu30151=)
c.90450G= (p.Glu30150=)
c.89883G= (p.Glu29961=)
c.87225G= (p.Glu29075=)
c.87144G= (p.Glu29048=)
c.68907G= (p.Glu22969=)
c.58761G= (p.Glu19587=)
2g.178544217C>GCA349454945TTN,TTN-AS1c.88308G>C (p.Glu29436Asp)
c.69393G>C (p.Glu23131Asp)
c.69192G>C (p.Glu23064Asp)
c.68817G>C (p.Glu22939Asp)
c.96012G>C (p.Glu32004Asp)
c.91089G>C (p.Glu30363Asp)
n.446+20581C>G
n.2043+1856C>G
c.95109G>C (p.Glu31703Asp)
c.69003G>C (p.Glu23001Asp)
c.68862G>C (p.Glu22954Asp)
c.94905G>C (p.Glu31635Asp)
c.90303G>C (p.Glu30101Asp)
c.90300G>C (p.Glu30100Asp)
c.87342G>C (p.Glu29114Asp)
c.68958G>C (p.Glu22986Asp)
c.90453G>C (p.Glu30151Asp)
c.90450G>C (p.Glu30150Asp)
c.89883G>C (p.Glu29961Asp)
c.87225G>C (p.Glu29075Asp)
c.87144G>C (p.Glu29048Asp)
c.68907G>C (p.Glu22969Asp)
c.58761G>C (p.Glu19587Asp)
2g.178544217C>TCA430241649TTN,TTN-AS1c.88308G>A (p.Glu29436=)
c.69393G>A (p.Glu23131=)
c.69192G>A (p.Glu23064=)
c.68817G>A (p.Glu22939=)
c.96012G>A (p.Glu32004=)
c.91089G>A (p.Glu30363=)
n.446+20581C>T
n.2043+1856C>T
c.95109G>A (p.Glu31703=)
c.69003G>A (p.Glu23001=)
c.68862G>A (p.Glu22954=)
c.94905G>A (p.Glu31635=)
c.90303G>A (p.Glu30101=)
c.90300G>A (p.Glu30100=)
c.87342G>A (p.Glu29114=)
c.68958G>A (p.Glu22986=)
c.90453G>A (p.Glu30151=)
c.90450G>A (p.Glu30150=)
c.89883G>A (p.Glu29961=)
c.87225G>A (p.Glu29075=)
c.87144G>A (p.Glu29048=)
c.68907G>A (p.Glu22969=)
c.58761G>A (p.Glu19587=)
 dbSNP gnomAD v2 gnomAD v4
2g.178544218T>ACA349454949TTN,TTN-AS1c.88307A>T (p.Glu29436Val)
c.69392A>T (p.Glu23131Val)
c.69191A>T (p.Glu23064Val)
c.68816A>T (p.Glu22939Val)
c.96011A>T (p.Glu32004Val)
c.91088A>T (p.Glu30363Val)
n.446+20582T>A
n.2043+1857T>A
c.95108A>T (p.Glu31703Val)
c.69002A>T (p.Glu23001Val)
c.68861A>T (p.Glu22954Val)
c.94904A>T (p.Glu31635Val)
c.90302A>T (p.Glu30101Val)
c.90299A>T (p.Glu30100Val)
c.87341A>T (p.Glu29114Val)
c.68957A>T (p.Glu22986Val)
c.90452A>T (p.Glu30151Val)
c.90449A>T (p.Glu30150Val)
c.89882A>T (p.Glu29961Val)
c.87224A>T (p.Glu29075Val)
c.87143A>T (p.Glu29048Val)
c.68906A>T (p.Glu22969Val)
c.58760A>T (p.Glu19587Val)
2g.178544218T>CCA349454952TTN,TTN-AS1c.88307A>G (p.Glu29436Gly)
c.69392A>G (p.Glu23131Gly)
c.69191A>G (p.Glu23064Gly)
c.68816A>G (p.Glu22939Gly)
c.96011A>G (p.Glu32004Gly)
c.91088A>G (p.Glu30363Gly)
n.446+20582T>C
n.2043+1857T>C
c.95108A>G (p.Glu31703Gly)
c.69002A>G (p.Glu23001Gly)
c.68861A>G (p.Glu22954Gly)
c.94904A>G (p.Glu31635Gly)
c.90302A>G (p.Glu30101Gly)
c.90299A>G (p.Glu30100Gly)
c.87341A>G (p.Glu29114Gly)
c.68957A>G (p.Glu22986Gly)
c.90452A>G (p.Glu30151Gly)
c.90449A>G (p.Glu30150Gly)
c.89882A>G (p.Glu29961Gly)
c.87224A>G (p.Glu29075Gly)
c.87143A>G (p.Glu29048Gly)
c.68906A>G (p.Glu22969Gly)
c.58760A>G (p.Glu19587Gly)
 ClinVar dbSNP
2g.178544218T>GCA349454955TTN,TTN-AS1c.88307A>C (p.Glu29436Ala)
c.69392A>C (p.Glu23131Ala)
c.69191A>C (p.Glu23064Ala)
c.68816A>C (p.Glu22939Ala)
c.96011A>C (p.Glu32004Ala)
c.91088A>C (p.Glu30363Ala)
n.446+20582T>G
n.2043+1857T>G
c.95108A>C (p.Glu31703Ala)
c.69002A>C (p.Glu23001Ala)
c.68861A>C (p.Glu22954Ala)
c.94904A>C (p.Glu31635Ala)
c.90302A>C (p.Glu30101Ala)
c.90299A>C (p.Glu30100Ala)
c.87341A>C (p.Glu29114Ala)
c.68957A>C (p.Glu22986Ala)
c.90452A>C (p.Glu30151Ala)
c.90449A>C (p.Glu30150Ala)
c.89882A>C (p.Glu29961Ala)
c.87224A>C (p.Glu29075Ala)
c.87143A>C (p.Glu29048Ala)
c.68906A>C (p.Glu22969Ala)
c.58760A>C (p.Glu19587Ala)
2g.178544218T=CA1310521429TTN,TTN-AS1c.88307A= (p.Glu29436=)
c.69392A= (p.Glu23131=)
c.69191A= (p.Glu23064=)
c.68816A= (p.Glu22939=)
c.96011A= (p.Glu32004=)
c.91088A= (p.Glu30363=)
n.446+20582T=
n.2043+1857T=
c.95108A= (p.Glu31703=)
c.69002A= (p.Glu23001=)
c.68861A= (p.Glu22954=)
c.94904A= (p.Glu31635=)
c.90302A= (p.Glu30101=)
c.90299A= (p.Glu30100=)
c.87341A= (p.Glu29114=)
c.68957A= (p.Glu22986=)
c.90452A= (p.Glu30151=)
c.90449A= (p.Glu30150=)
c.89882A= (p.Glu29961=)
c.87224A= (p.Glu29075=)
c.87143A= (p.Glu29048=)
c.68906A= (p.Glu22969=)
c.58760A= (p.Glu19587=)
2g.178544219C>ACA349454990TTN,TTN-AS1c.88306G>T (p.Glu29436Ter)
c.69391G>T (p.Glu23131Ter)
c.69190G>T (p.Glu23064Ter)
c.68815G>T (p.Glu22939Ter)
c.96010G>T (p.Glu32004Ter)
c.91087G>T (p.Glu30363Ter)
n.446+20583C>A
n.2043+1858C>A
c.95107G>T (p.Glu31703Ter)
c.69001G>T (p.Glu23001Ter)
c.68860G>T (p.Glu22954Ter)
c.94903G>T (p.Glu31635Ter)
c.90301G>T (p.Glu30101Ter)
c.90298G>T (p.Glu30100Ter)
c.87340G>T (p.Glu29114Ter)
c.68956G>T (p.Glu22986Ter)
c.90451G>T (p.Glu30151Ter)
c.90448G>T (p.Glu30150Ter)
c.89881G>T (p.Glu29961Ter)
c.87223G>T (p.Glu29075Ter)
c.87142G>T (p.Glu29048Ter)
c.68905G>T (p.Glu22969Ter)
c.58759G>T (p.Glu19587Ter)
2g.178544219C>GCA349454975TTN,TTN-AS1c.88306G>C (p.Glu29436Gln)
c.69391G>C (p.Glu23131Gln)
c.69190G>C (p.Glu23064Gln)
c.68815G>C (p.Glu22939Gln)
c.96010G>C (p.Glu32004Gln)
c.91087G>C (p.Glu30363Gln)
n.446+20583C>G
n.2043+1858C>G
c.95107G>C (p.Glu31703Gln)
c.69001G>C (p.Glu23001Gln)
c.68860G>C (p.Glu22954Gln)
c.94903G>C (p.Glu31635Gln)
c.90301G>C (p.Glu30101Gln)
c.90298G>C (p.Glu30100Gln)
c.87340G>C (p.Glu29114Gln)
c.68956G>C (p.Glu22986Gln)
c.90451G>C (p.Glu30151Gln)
c.90448G>C (p.Glu30150Gln)
c.89881G>C (p.Glu29961Gln)
c.87223G>C (p.Glu29075Gln)
c.87142G>C (p.Glu29048Gln)
c.68905G>C (p.Glu22969Gln)
c.58759G>C (p.Glu19587Gln)
2g.178544219C>TCA349454979TTN,TTN-AS1c.88306G>A (p.Glu29436Lys)
c.69391G>A (p.Glu23131Lys)
c.69190G>A (p.Glu23064Lys)
c.68815G>A (p.Glu22939Lys)
c.96010G>A (p.Glu32004Lys)
c.91087G>A (p.Glu30363Lys)
n.446+20583C>T
n.2043+1858C>T
c.95107G>A (p.Glu31703Lys)
c.69001G>A (p.Glu23001Lys)
c.68860G>A (p.Glu22954Lys)
c.94903G>A (p.Glu31635Lys)
c.90301G>A (p.Glu30101Lys)
c.90298G>A (p.Glu30100Lys)
c.87340G>A (p.Glu29114Lys)
c.68956G>A (p.Glu22986Lys)
c.90451G>A (p.Glu30151Lys)
c.90448G>A (p.Glu30150Lys)
c.89881G>A (p.Glu29961Lys)
c.87223G>A (p.Glu29075Lys)
c.87142G>A (p.Glu29048Lys)
c.68905G>A (p.Glu22969Lys)
c.58759G>A (p.Glu19587Lys)
2g.178544220A=CA1310521431TTN,TTN-AS1c.88305T= (p.Ile29435=)
c.69390T= (p.Ile23130=)
c.69189T= (p.Ile23063=)
c.68814T= (p.Ile22938=)
c.96009T= (p.Ile32003=)
c.91086T= (p.Ile30362=)
n.446+20584A=
n.2043+1859A=
c.95106T= (p.Ile31702=)
c.69000T= (p.Ile23000=)
c.68859T= (p.Ile22953=)
c.94902T= (p.Ile31634=)
c.90300T= (p.Ile30100=)
c.90297T= (p.Ile30099=)
c.87339T= (p.Ile29113=)
c.68955T= (p.Ile22985=)
c.90450T= (p.Ile30150=)
c.90447T= (p.Ile30149=)
c.89880T= (p.Ile29960=)
c.87222T= (p.Ile29074=)
c.87141T= (p.Ile29047=)
c.68904T= (p.Ile22968=)
c.58758T= (p.Ile19586=)
2g.178544220A>CCA349454996TTN,TTN-AS1c.88305T>G (p.Ile29435Met)
c.69390T>G (p.Ile23130Met)
c.69189T>G (p.Ile23063Met)
c.68814T>G (p.Ile22938Met)
c.96009T>G (p.Ile32003Met)
c.91086T>G (p.Ile30362Met)
n.446+20584A>C
n.2043+1859A>C
c.95106T>G (p.Ile31702Met)
c.69000T>G (p.Ile23000Met)
c.68859T>G (p.Ile22953Met)
c.94902T>G (p.Ile31634Met)
c.90300T>G (p.Ile30100Met)
c.90297T>G (p.Ile30099Met)
c.87339T>G (p.Ile29113Met)
c.68955T>G (p.Ile22985Met)
c.90450T>G (p.Ile30150Met)
c.90447T>G (p.Ile30149Met)
c.89880T>G (p.Ile29960Met)
c.87222T>G (p.Ile29074Met)
c.87141T>G (p.Ile29047Met)
c.68904T>G (p.Ile22968Met)
c.58758T>G (p.Ile19586Met)
2g.178544220A>GCA430241653TTN,TTN-AS1c.88305T>C (p.Ile29435=)
c.69390T>C (p.Ile23130=)
c.69189T>C (p.Ile23063=)
c.68814T>C (p.Ile22938=)
c.96009T>C (p.Ile32003=)
c.91086T>C (p.Ile30362=)
n.446+20584A>G
n.2043+1859A>G
c.95106T>C (p.Ile31702=)
c.69000T>C (p.Ile23000=)
c.68859T>C (p.Ile22953=)
c.94902T>C (p.Ile31634=)
c.90300T>C (p.Ile30100=)
c.90297T>C (p.Ile30099=)
c.87339T>C (p.Ile29113=)
c.68955T>C (p.Ile22985=)
c.90450T>C (p.Ile30150=)
c.90447T>C (p.Ile30149=)
c.89880T>C (p.Ile29960=)
c.87222T>C (p.Ile29074=)
c.87141T>C (p.Ile29047=)
c.68904T>C (p.Ile22968=)
c.58758T>C (p.Ile19586=)
 dbSNP gnomAD v2 gnomAD v4
2g.178544220A>TCA1986839TTN,TTN-AS1c.88305T>A (p.Ile29435=)
c.69390T>A (p.Ile23130=)
c.69189T>A (p.Ile23063=)
c.68814T>A (p.Ile22938=)
c.96009T>A (p.Ile32003=)
c.91086T>A (p.Ile30362=)
n.446+20584A>T
n.2043+1859A>T
c.95106T>A (p.Ile31702=)
c.69000T>A (p.Ile23000=)
c.68859T>A (p.Ile22953=)
c.94902T>A (p.Ile31634=)
c.90300T>A (p.Ile30100=)
c.90297T>A (p.Ile30099=)
c.87339T>A (p.Ile29113=)
c.68955T>A (p.Ile22985=)
c.90450T>A (p.Ile30150=)
c.90447T>A (p.Ile30149=)
c.89880T>A (p.Ile29960=)
c.87222T>A (p.Ile29074=)
c.87141T>A (p.Ile29047=)
c.68904T>A (p.Ile22968=)
c.58758T>A (p.Ile19586=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178544221A=CA1310521434TTN,TTN-AS1c.88304T= (p.Ile29435=)
c.69389T= (p.Ile23130=)
c.69188T= (p.Ile23063=)
c.68813T= (p.Ile22938=)
c.96008T= (p.Ile32003=)
c.91085T= (p.Ile30362=)
n.446+20585A=
n.2043+1860A=
c.95105T= (p.Ile31702=)
c.68999T= (p.Ile23000=)
c.68858T= (p.Ile22953=)
c.94901T= (p.Ile31634=)
c.90299T= (p.Ile30100=)
c.90296T= (p.Ile30099=)
c.87338T= (p.Ile29113=)
c.68954T= (p.Ile22985=)
c.90449T= (p.Ile30150=)
c.90446T= (p.Ile30149=)
c.89879T= (p.Ile29960=)
c.87221T= (p.Ile29074=)
c.87140T= (p.Ile29047=)
c.68903T= (p.Ile22968=)
c.58757T= (p.Ile19586=)
2g.178544221A>CCA349455007TTN,TTN-AS1c.88304T>G (p.Ile29435Ser)
c.69389T>G (p.Ile23130Ser)
c.69188T>G (p.Ile23063Ser)
c.68813T>G (p.Ile22938Ser)
c.96008T>G (p.Ile32003Ser)
c.91085T>G (p.Ile30362Ser)
n.446+20585A>C
n.2043+1860A>C
c.95105T>G (p.Ile31702Ser)
c.68999T>G (p.Ile23000Ser)
c.68858T>G (p.Ile22953Ser)
c.94901T>G (p.Ile31634Ser)
c.90299T>G (p.Ile30100Ser)
c.90296T>G (p.Ile30099Ser)
c.87338T>G (p.Ile29113Ser)
c.68954T>G (p.Ile22985Ser)
c.90449T>G (p.Ile30150Ser)
c.90446T>G (p.Ile30149Ser)
c.89879T>G (p.Ile29960Ser)
c.87221T>G (p.Ile29074Ser)
c.87140T>G (p.Ile29047Ser)
c.68903T>G (p.Ile22968Ser)
c.58757T>G (p.Ile19586Ser)
2g.178544221A>GCA1986840TTN,TTN-AS1c.88304T>C (p.Ile29435Thr)
c.69389T>C (p.Ile23130Thr)
c.69188T>C (p.Ile23063Thr)
c.68813T>C (p.Ile22938Thr)
c.96008T>C (p.Ile32003Thr)
c.91085T>C (p.Ile30362Thr)
n.446+20585A>G
n.2043+1860A>G
c.95105T>C (p.Ile31702Thr)
c.68999T>C (p.Ile23000Thr)
c.68858T>C (p.Ile22953Thr)
c.94901T>C (p.Ile31634Thr)
c.90299T>C (p.Ile30100Thr)
c.90296T>C (p.Ile30099Thr)
c.87338T>C (p.Ile29113Thr)
c.68954T>C (p.Ile22985Thr)
c.90449T>C (p.Ile30150Thr)
c.90446T>C (p.Ile30149Thr)
c.89879T>C (p.Ile29960Thr)
c.87221T>C (p.Ile29074Thr)
c.87140T>C (p.Ile29047Thr)
c.68903T>C (p.Ile22968Thr)
c.58757T>C (p.Ile19586Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178544221A>TCA60970507TTN,TTN-AS1c.88304T>A (p.Ile29435Asn)
c.69389T>A (p.Ile23130Asn)
c.69188T>A (p.Ile23063Asn)
c.68813T>A (p.Ile22938Asn)
c.96008T>A (p.Ile32003Asn)
c.91085T>A (p.Ile30362Asn)
n.446+20585A>T
n.2043+1860A>T
c.95105T>A (p.Ile31702Asn)
c.68999T>A (p.Ile23000Asn)
c.68858T>A (p.Ile22953Asn)
c.94901T>A (p.Ile31634Asn)
c.90299T>A (p.Ile30100Asn)
c.90296T>A (p.Ile30099Asn)
c.87338T>A (p.Ile29113Asn)
c.68954T>A (p.Ile22985Asn)
c.90449T>A (p.Ile30150Asn)
c.90446T>A (p.Ile30149Asn)
c.89879T>A (p.Ile29960Asn)
c.87221T>A (p.Ile29074Asn)
c.87140T>A (p.Ile29047Asn)
c.68903T>A (p.Ile22968Asn)
c.58757T>A (p.Ile19586Asn)
 dbSNP gnomAD v4
2g.178544222T>ACA349455011TTN,TTN-AS1c.88303A>T (p.Ile29435Phe)
c.69388A>T (p.Ile23130Phe)
c.69187A>T (p.Ile23063Phe)
c.68812A>T (p.Ile22938Phe)
c.96007A>T (p.Ile32003Phe)
c.91084A>T (p.Ile30362Phe)
n.446+20586T>A
n.2043+1861T>A
c.95104A>T (p.Ile31702Phe)
c.68998A>T (p.Ile23000Phe)
c.68857A>T (p.Ile22953Phe)
c.94900A>T (p.Ile31634Phe)
c.90298A>T (p.Ile30100Phe)
c.90295A>T (p.Ile30099Phe)
c.87337A>T (p.Ile29113Phe)
c.68953A>T (p.Ile22985Phe)
c.90448A>T (p.Ile30150Phe)
c.90445A>T (p.Ile30149Phe)
c.89878A>T (p.Ile29960Phe)
c.87220A>T (p.Ile29074Phe)
c.87139A>T (p.Ile29047Phe)
c.68902A>T (p.Ile22968Phe)
c.58756A>T (p.Ile19586Phe)
2g.178544222T>CCA349455015TTN,TTN-AS1c.88303A>G (p.Ile29435Val)
c.69388A>G (p.Ile23130Val)
c.69187A>G (p.Ile23063Val)
c.68812A>G (p.Ile22938Val)
c.96007A>G (p.Ile32003Val)
c.91084A>G (p.Ile30362Val)
n.446+20586T>C
n.2043+1861T>C
c.95104A>G (p.Ile31702Val)
c.68998A>G (p.Ile23000Val)
c.68857A>G (p.Ile22953Val)
c.94900A>G (p.Ile31634Val)
c.90298A>G (p.Ile30100Val)
c.90295A>G (p.Ile30099Val)
c.87337A>G (p.Ile29113Val)
c.68953A>G (p.Ile22985Val)
c.90448A>G (p.Ile30150Val)
c.90445A>G (p.Ile30149Val)
c.89878A>G (p.Ile29960Val)
c.87220A>G (p.Ile29074Val)
c.87139A>G (p.Ile29047Val)
c.68902A>G (p.Ile22968Val)
c.58756A>G (p.Ile19586Val)
2g.178544222T>GCA349455022TTN,TTN-AS1c.88303A>C (p.Ile29435Leu)
c.69388A>C (p.Ile23130Leu)
c.69187A>C (p.Ile23063Leu)
c.68812A>C (p.Ile22938Leu)
c.96007A>C (p.Ile32003Leu)
c.91084A>C (p.Ile30362Leu)
n.446+20586T>G
n.2043+1861T>G
c.95104A>C (p.Ile31702Leu)
c.68998A>C (p.Ile23000Leu)
c.68857A>C (p.Ile22953Leu)
c.94900A>C (p.Ile31634Leu)
c.90298A>C (p.Ile30100Leu)
c.90295A>C (p.Ile30099Leu)
c.87337A>C (p.Ile29113Leu)
c.68953A>C (p.Ile22985Leu)
c.90448A>C (p.Ile30150Leu)
c.90445A>C (p.Ile30149Leu)
c.89878A>C (p.Ile29960Leu)
c.87220A>C (p.Ile29074Leu)
c.87139A>C (p.Ile29047Leu)
c.68902A>C (p.Ile22968Leu)
c.58756A>C (p.Ile19586Leu)

Number of alleles fetched