Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178602330A>CCA349545174TTN,TTN-AS1c.47368T>G (p.Ser15790Ala)
c.28453T>G (p.Ser9485Ala)
c.28252T>G (p.Ser9418Ala)
c.27877T>G (p.Ser9293Ala)
c.55072T>G (p.Ser18358Ala)
c.50149T>G (p.Ser16717Ala)
n.682+4649A>C
n.3917+1663A>C
c.54169T>G (p.Ser18057Ala)
c.28063T>G (p.Ser9355Ala)
c.27922T>G (p.Ser9308Ala)
c.53965T>G (p.Ser17989Ala)
c.49363T>G (p.Ser16455Ala)
c.49360T>G (p.Ser16454Ala)
c.46402T>G (p.Ser15468Ala)
c.28018T>G (p.Ser9340Ala)
c.49513T>G (p.Ser16505Ala)
c.49510T>G (p.Ser16504Ala)
c.48943T>G (p.Ser16315Ala)
c.46285T>G (p.Ser15429Ala)
c.46204T>G (p.Ser15402Ala)
c.27967T>G (p.Ser9323Ala)
c.17821T>G (p.Ser5941Ala)
2g.178602330A>GCA349545179TTN,TTN-AS1c.47368T>C (p.Ser15790Pro)
c.28453T>C (p.Ser9485Pro)
c.28252T>C (p.Ser9418Pro)
c.27877T>C (p.Ser9293Pro)
c.55072T>C (p.Ser18358Pro)
c.50149T>C (p.Ser16717Pro)
n.682+4649A>G
n.3917+1663A>G
c.54169T>C (p.Ser18057Pro)
c.28063T>C (p.Ser9355Pro)
c.27922T>C (p.Ser9308Pro)
c.53965T>C (p.Ser17989Pro)
c.49363T>C (p.Ser16455Pro)
c.49360T>C (p.Ser16454Pro)
c.46402T>C (p.Ser15468Pro)
c.28018T>C (p.Ser9340Pro)
c.49513T>C (p.Ser16505Pro)
c.49510T>C (p.Ser16504Pro)
c.48943T>C (p.Ser16315Pro)
c.46285T>C (p.Ser15429Pro)
c.46204T>C (p.Ser15402Pro)
c.27967T>C (p.Ser9323Pro)
c.17821T>C (p.Ser5941Pro)
2g.178602330A>TCA349545183TTN,TTN-AS1c.47368T>A (p.Ser15790Thr)
c.28453T>A (p.Ser9485Thr)
c.28252T>A (p.Ser9418Thr)
c.27877T>A (p.Ser9293Thr)
c.55072T>A (p.Ser18358Thr)
c.50149T>A (p.Ser16717Thr)
n.682+4649A>T
n.3917+1663A>T
c.54169T>A (p.Ser18057Thr)
c.28063T>A (p.Ser9355Thr)
c.27922T>A (p.Ser9308Thr)
c.53965T>A (p.Ser17989Thr)
c.49363T>A (p.Ser16455Thr)
c.49360T>A (p.Ser16454Thr)
c.46402T>A (p.Ser15468Thr)
c.28018T>A (p.Ser9340Thr)
c.49513T>A (p.Ser16505Thr)
c.49510T>A (p.Ser16504Thr)
c.48943T>A (p.Ser16315Thr)
c.46285T>A (p.Ser15429Thr)
c.46204T>A (p.Ser15402Thr)
c.27967T>A (p.Ser9323Thr)
c.17821T>A (p.Ser5941Thr)
2g.178602331T>ACA349545187TTN,TTN-AS1c.47367A>T (p.Glu15789Asp)
c.28452A>T (p.Glu9484Asp)
c.28251A>T (p.Glu9417Asp)
c.27876A>T (p.Glu9292Asp)
c.55071A>T (p.Glu18357Asp)
c.50148A>T (p.Glu16716Asp)
n.682+4650T>A
n.3917+1664T>A
c.54168A>T (p.Glu18056Asp)
c.28062A>T (p.Glu9354Asp)
c.27921A>T (p.Glu9307Asp)
c.53964A>T (p.Glu17988Asp)
c.49362A>T (p.Glu16454Asp)
c.49359A>T (p.Glu16453Asp)
c.46401A>T (p.Glu15467Asp)
c.28017A>T (p.Glu9339Asp)
c.49512A>T (p.Glu16504Asp)
c.49509A>T (p.Glu16503Asp)
c.48942A>T (p.Glu16314Asp)
c.46284A>T (p.Glu15428Asp)
c.46203A>T (p.Glu15401Asp)
c.27966A>T (p.Glu9322Asp)
c.17820A>T (p.Glu5940Asp)
2g.178602331T>CCA430269324TTN,TTN-AS1c.47367A>G (p.Glu15789=)
c.28452A>G (p.Glu9484=)
c.28251A>G (p.Glu9417=)
c.27876A>G (p.Glu9292=)
c.55071A>G (p.Glu18357=)
c.50148A>G (p.Glu16716=)
n.682+4650T>C
n.3917+1664T>C
c.54168A>G (p.Glu18056=)
c.28062A>G (p.Glu9354=)
c.27921A>G (p.Glu9307=)
c.53964A>G (p.Glu17988=)
c.49362A>G (p.Glu16454=)
c.49359A>G (p.Glu16453=)
c.46401A>G (p.Glu15467=)
c.28017A>G (p.Glu9339=)
c.49512A>G (p.Glu16504=)
c.49509A>G (p.Glu16503=)
c.48942A>G (p.Glu16314=)
c.46284A>G (p.Glu15428=)
c.46203A>G (p.Glu15401=)
c.27966A>G (p.Glu9322=)
c.17820A>G (p.Glu5940=)
2g.178602331T>GCA349545189TTN,TTN-AS1c.47367A>C (p.Glu15789Asp)
c.28452A>C (p.Glu9484Asp)
c.28251A>C (p.Glu9417Asp)
c.27876A>C (p.Glu9292Asp)
c.55071A>C (p.Glu18357Asp)
c.50148A>C (p.Glu16716Asp)
n.682+4650T>G
n.3917+1664T>G
c.54168A>C (p.Glu18056Asp)
c.28062A>C (p.Glu9354Asp)
c.27921A>C (p.Glu9307Asp)
c.53964A>C (p.Glu17988Asp)
c.49362A>C (p.Glu16454Asp)
c.49359A>C (p.Glu16453Asp)
c.46401A>C (p.Glu15467Asp)
c.28017A>C (p.Glu9339Asp)
c.49512A>C (p.Glu16504Asp)
c.49509A>C (p.Glu16503Asp)
c.48942A>C (p.Glu16314Asp)
c.46284A>C (p.Glu15428Asp)
c.46203A>C (p.Glu15401Asp)
c.27966A>C (p.Glu9322Asp)
c.17820A>C (p.Glu5940Asp)
2g.178602332T>ACA349545193TTN,TTN-AS1c.47366A>T (p.Glu15789Val)
c.28451A>T (p.Glu9484Val)
c.28250A>T (p.Glu9417Val)
c.27875A>T (p.Glu9292Val)
c.55070A>T (p.Glu18357Val)
c.50147A>T (p.Glu16716Val)
n.682+4651T>A
n.3917+1665T>A
c.54167A>T (p.Glu18056Val)
c.28061A>T (p.Glu9354Val)
c.27920A>T (p.Glu9307Val)
c.53963A>T (p.Glu17988Val)
c.49361A>T (p.Glu16454Val)
c.49358A>T (p.Glu16453Val)
c.46400A>T (p.Glu15467Val)
c.28016A>T (p.Glu9339Val)
c.49511A>T (p.Glu16504Val)
c.49508A>T (p.Glu16503Val)
c.48941A>T (p.Glu16314Val)
c.46283A>T (p.Glu15428Val)
c.46202A>T (p.Glu15401Val)
c.27965A>T (p.Glu9322Val)
c.17819A>T (p.Glu5940Val)
2g.178602332T>CCA349545197TTN,TTN-AS1c.47366A>G (p.Glu15789Gly)
c.28451A>G (p.Glu9484Gly)
c.28250A>G (p.Glu9417Gly)
c.27875A>G (p.Glu9292Gly)
c.55070A>G (p.Glu18357Gly)
c.50147A>G (p.Glu16716Gly)
n.682+4651T>C
n.3917+1665T>C
c.54167A>G (p.Glu18056Gly)
c.28061A>G (p.Glu9354Gly)
c.27920A>G (p.Glu9307Gly)
c.53963A>G (p.Glu17988Gly)
c.49361A>G (p.Glu16454Gly)
c.49358A>G (p.Glu16453Gly)
c.46400A>G (p.Glu15467Gly)
c.28016A>G (p.Glu9339Gly)
c.49511A>G (p.Glu16504Gly)
c.49508A>G (p.Glu16503Gly)
c.48941A>G (p.Glu16314Gly)
c.46283A>G (p.Glu15428Gly)
c.46202A>G (p.Glu15401Gly)
c.27965A>G (p.Glu9322Gly)
c.17819A>G (p.Glu5940Gly)
2g.178602332T>GCA349545201TTN,TTN-AS1c.47366A>C (p.Glu15789Ala)
c.28451A>C (p.Glu9484Ala)
c.28250A>C (p.Glu9417Ala)
c.27875A>C (p.Glu9292Ala)
c.55070A>C (p.Glu18357Ala)
c.50147A>C (p.Glu16716Ala)
n.682+4651T>G
n.3917+1665T>G
c.54167A>C (p.Glu18056Ala)
c.28061A>C (p.Glu9354Ala)
c.27920A>C (p.Glu9307Ala)
c.53963A>C (p.Glu17988Ala)
c.49361A>C (p.Glu16454Ala)
c.49358A>C (p.Glu16453Ala)
c.46400A>C (p.Glu15467Ala)
c.28016A>C (p.Glu9339Ala)
c.49511A>C (p.Glu16504Ala)
c.49508A>C (p.Glu16503Ala)
c.48941A>C (p.Glu16314Ala)
c.46283A>C (p.Glu15428Ala)
c.46202A>C (p.Glu15401Ala)
c.27965A>C (p.Glu9322Ala)
c.17819A>C (p.Glu5940Ala)
2g.178602333C>ACA349545210TTN,TTN-AS1c.47365G>T (p.Glu15789Ter)
c.28450G>T (p.Glu9484Ter)
c.28249G>T (p.Glu9417Ter)
c.27874G>T (p.Glu9292Ter)
c.55069G>T (p.Glu18357Ter)
c.50146G>T (p.Glu16716Ter)
n.682+4652C>A
n.3917+1666C>A
c.54166G>T (p.Glu18056Ter)
c.28060G>T (p.Glu9354Ter)
c.27919G>T (p.Glu9307Ter)
c.53962G>T (p.Glu17988Ter)
c.49360G>T (p.Glu16454Ter)
c.49357G>T (p.Glu16453Ter)
c.46399G>T (p.Glu15467Ter)
c.28015G>T (p.Glu9339Ter)
c.49510G>T (p.Glu16504Ter)
c.49507G>T (p.Glu16503Ter)
c.48940G>T (p.Glu16314Ter)
c.46282G>T (p.Glu15428Ter)
c.46201G>T (p.Glu15401Ter)
c.27964G>T (p.Glu9322Ter)
c.17818G>T (p.Glu5940Ter)
2g.178602333C>GCA349545211TTN,TTN-AS1c.47365G>C (p.Glu15789Gln)
c.28450G>C (p.Glu9484Gln)
c.28249G>C (p.Glu9417Gln)
c.27874G>C (p.Glu9292Gln)
c.55069G>C (p.Glu18357Gln)
c.50146G>C (p.Glu16716Gln)
n.682+4652C>G
n.3917+1666C>G
c.54166G>C (p.Glu18056Gln)
c.28060G>C (p.Glu9354Gln)
c.27919G>C (p.Glu9307Gln)
c.53962G>C (p.Glu17988Gln)
c.49360G>C (p.Glu16454Gln)
c.49357G>C (p.Glu16453Gln)
c.46399G>C (p.Glu15467Gln)
c.28015G>C (p.Glu9339Gln)
c.49510G>C (p.Glu16504Gln)
c.49507G>C (p.Glu16503Gln)
c.48940G>C (p.Glu16314Gln)
c.46282G>C (p.Glu15428Gln)
c.46201G>C (p.Glu15401Gln)
c.27964G>C (p.Glu9322Gln)
c.17818G>C (p.Glu5940Gln)
2g.178602333C>TCA349545209TTN,TTN-AS1c.47365G>A (p.Glu15789Lys)
c.28450G>A (p.Glu9484Lys)
c.28249G>A (p.Glu9417Lys)
c.27874G>A (p.Glu9292Lys)
c.55069G>A (p.Glu18357Lys)
c.50146G>A (p.Glu16716Lys)
n.682+4652C>T
n.3917+1666C>T
c.54166G>A (p.Glu18056Lys)
c.28060G>A (p.Glu9354Lys)
c.27919G>A (p.Glu9307Lys)
c.53962G>A (p.Glu17988Lys)
c.49360G>A (p.Glu16454Lys)
c.49357G>A (p.Glu16453Lys)
c.46399G>A (p.Glu15467Lys)
c.28015G>A (p.Glu9339Lys)
c.49510G>A (p.Glu16504Lys)
c.49507G>A (p.Glu16503Lys)
c.48940G>A (p.Glu16314Lys)
c.46282G>A (p.Glu15428Lys)
c.46201G>A (p.Glu15401Lys)
c.27964G>A (p.Glu9322Lys)
c.17818G>A (p.Glu5940Lys)
2g.178602334A>CCA430269334TTN,TTN-AS1c.47364T>G (p.Gly15788=)
c.28449T>G (p.Gly9483=)
c.28248T>G (p.Gly9416=)
c.27873T>G (p.Gly9291=)
c.55068T>G (p.Gly18356=)
c.50145T>G (p.Gly16715=)
n.682+4653A>C
n.3917+1667A>C
c.54165T>G (p.Gly18055=)
c.28059T>G (p.Gly9353=)
c.27918T>G (p.Gly9306=)
c.53961T>G (p.Gly17987=)
c.49359T>G (p.Gly16453=)
c.49356T>G (p.Gly16452=)
c.46398T>G (p.Gly15466=)
c.28014T>G (p.Gly9338=)
c.49509T>G (p.Gly16503=)
c.49506T>G (p.Gly16502=)
c.48939T>G (p.Gly16313=)
c.46281T>G (p.Gly15427=)
c.46200T>G (p.Gly15400=)
c.27963T>G (p.Gly9321=)
c.17817T>G (p.Gly5939=)
2g.178602334A>GCA430269335TTN,TTN-AS1c.47364T>C (p.Gly15788=)
c.28449T>C (p.Gly9483=)
c.28248T>C (p.Gly9416=)
c.27873T>C (p.Gly9291=)
c.55068T>C (p.Gly18356=)
c.50145T>C (p.Gly16715=)
n.682+4653A>G
n.3917+1667A>G
c.54165T>C (p.Gly18055=)
c.28059T>C (p.Gly9353=)
c.27918T>C (p.Gly9306=)
c.53961T>C (p.Gly17987=)
c.49359T>C (p.Gly16453=)
c.49356T>C (p.Gly16452=)
c.46398T>C (p.Gly15466=)
c.28014T>C (p.Gly9338=)
c.49509T>C (p.Gly16503=)
c.49506T>C (p.Gly16502=)
c.48939T>C (p.Gly16313=)
c.46281T>C (p.Gly15427=)
c.46200T>C (p.Gly15400=)
c.27963T>C (p.Gly9321=)
c.17817T>C (p.Gly5939=)
2g.178602334A>TCA430269333TTN,TTN-AS1c.47364T>A (p.Gly15788=)
c.28449T>A (p.Gly9483=)
c.28248T>A (p.Gly9416=)
c.27873T>A (p.Gly9291=)
c.55068T>A (p.Gly18356=)
c.50145T>A (p.Gly16715=)
n.682+4653A>T
n.3917+1667A>T
c.54165T>A (p.Gly18055=)
c.28059T>A (p.Gly9353=)
c.27918T>A (p.Gly9306=)
c.53961T>A (p.Gly17987=)
c.49359T>A (p.Gly16453=)
c.49356T>A (p.Gly16452=)
c.46398T>A (p.Gly15466=)
c.28014T>A (p.Gly9338=)
c.49509T>A (p.Gly16503=)
c.49506T>A (p.Gly16502=)
c.48939T>A (p.Gly16313=)
c.46281T>A (p.Gly15427=)
c.46200T>A (p.Gly15400=)
c.27963T>A (p.Gly9321=)
c.17817T>A (p.Gly5939=)
2g.178602335C>ACA349545212TTN,TTN-AS1c.47363G>T (p.Gly15788Val)
c.28448G>T (p.Gly9483Val)
c.28247G>T (p.Gly9416Val)
c.27872G>T (p.Gly9291Val)
c.55067G>T (p.Gly18356Val)
c.50144G>T (p.Gly16715Val)
n.682+4654C>A
n.3917+1668C>A
c.54164G>T (p.Gly18055Val)
c.28058G>T (p.Gly9353Val)
c.27917G>T (p.Gly9306Val)
c.53960G>T (p.Gly17987Val)
c.49358G>T (p.Gly16453Val)
c.49355G>T (p.Gly16452Val)
c.46397G>T (p.Gly15466Val)
c.28013G>T (p.Gly9338Val)
c.49508G>T (p.Gly16503Val)
c.49505G>T (p.Gly16502Val)
c.48938G>T (p.Gly16313Val)
c.46280G>T (p.Gly15427Val)
c.46199G>T (p.Gly15400Val)
c.27962G>T (p.Gly9321Val)
c.17816G>T (p.Gly5939Val)
2g.178602335C>GCA349545214TTN,TTN-AS1c.47363G>C (p.Gly15788Ala)
c.28448G>C (p.Gly9483Ala)
c.28247G>C (p.Gly9416Ala)
c.27872G>C (p.Gly9291Ala)
c.55067G>C (p.Gly18356Ala)
c.50144G>C (p.Gly16715Ala)
n.682+4654C>G
n.3917+1668C>G
c.54164G>C (p.Gly18055Ala)
c.28058G>C (p.Gly9353Ala)
c.27917G>C (p.Gly9306Ala)
c.53960G>C (p.Gly17987Ala)
c.49358G>C (p.Gly16453Ala)
c.49355G>C (p.Gly16452Ala)
c.46397G>C (p.Gly15466Ala)
c.28013G>C (p.Gly9338Ala)
c.49508G>C (p.Gly16503Ala)
c.49505G>C (p.Gly16502Ala)
c.48938G>C (p.Gly16313Ala)
c.46280G>C (p.Gly15427Ala)
c.46199G>C (p.Gly15400Ala)
c.27962G>C (p.Gly9321Ala)
c.17816G>C (p.Gly5939Ala)
 gnomAD v4
2g.178602335C>TCA349545222TTN,TTN-AS1c.47363G>A (p.Gly15788Asp)
c.28448G>A (p.Gly9483Asp)
c.28247G>A (p.Gly9416Asp)
c.27872G>A (p.Gly9291Asp)
c.55067G>A (p.Gly18356Asp)
c.50144G>A (p.Gly16715Asp)
n.682+4654C>T
n.3917+1668C>T
c.54164G>A (p.Gly18055Asp)
c.28058G>A (p.Gly9353Asp)
c.27917G>A (p.Gly9306Asp)
c.53960G>A (p.Gly17987Asp)
c.49358G>A (p.Gly16453Asp)
c.49355G>A (p.Gly16452Asp)
c.46397G>A (p.Gly15466Asp)
c.28013G>A (p.Gly9338Asp)
c.49508G>A (p.Gly16503Asp)
c.49505G>A (p.Gly16502Asp)
c.48938G>A (p.Gly16313Asp)
c.46280G>A (p.Gly15427Asp)
c.46199G>A (p.Gly15400Asp)
c.27962G>A (p.Gly9321Asp)
c.17816G>A (p.Gly5939Asp)
2g.178602336C>ACA349545226TTN,TTN-AS1c.47362G>T (p.Gly15788Cys)
c.28447G>T (p.Gly9483Cys)
c.28246G>T (p.Gly9416Cys)
c.27871G>T (p.Gly9291Cys)
c.55066G>T (p.Gly18356Cys)
c.50143G>T (p.Gly16715Cys)
n.682+4655C>A
n.3917+1669C>A
c.54163G>T (p.Gly18055Cys)
c.28057G>T (p.Gly9353Cys)
c.27916G>T (p.Gly9306Cys)
c.53959G>T (p.Gly17987Cys)
c.49357G>T (p.Gly16453Cys)
c.49354G>T (p.Gly16452Cys)
c.46396G>T (p.Gly15466Cys)
c.28012G>T (p.Gly9338Cys)
c.49507G>T (p.Gly16503Cys)
c.49504G>T (p.Gly16502Cys)
c.48937G>T (p.Gly16313Cys)
c.46279G>T (p.Gly15427Cys)
c.46198G>T (p.Gly15400Cys)
c.27961G>T (p.Gly9321Cys)
c.17815G>T (p.Gly5939Cys)
2g.178602336C=CA1310544480TTN,TTN-AS1c.47362G= (p.Gly15788=)
c.28447G= (p.Gly9483=)
c.28246G= (p.Gly9416=)
c.27871G= (p.Gly9291=)
c.55066G= (p.Gly18356=)
c.50143G= (p.Gly16715=)
n.682+4655C=
n.3917+1669C=
c.54163G= (p.Gly18055=)
c.28057G= (p.Gly9353=)
c.27916G= (p.Gly9306=)
c.53959G= (p.Gly17987=)
c.49357G= (p.Gly16453=)
c.49354G= (p.Gly16452=)
c.46396G= (p.Gly15466=)
c.28012G= (p.Gly9338=)
c.49507G= (p.Gly16503=)
c.49504G= (p.Gly16502=)
c.48937G= (p.Gly16313=)
c.46279G= (p.Gly15427=)
c.46198G= (p.Gly15400=)
c.27961G= (p.Gly9321=)
c.17815G= (p.Gly5939=)
2g.178602336C>GCA349545230TTN,TTN-AS1c.47362G>C (p.Gly15788Arg)
c.28447G>C (p.Gly9483Arg)
c.28246G>C (p.Gly9416Arg)
c.27871G>C (p.Gly9291Arg)
c.55066G>C (p.Gly18356Arg)
c.50143G>C (p.Gly16715Arg)
n.682+4655C>G
n.3917+1669C>G
c.54163G>C (p.Gly18055Arg)
c.28057G>C (p.Gly9353Arg)
c.27916G>C (p.Gly9306Arg)
c.53959G>C (p.Gly17987Arg)
c.49357G>C (p.Gly16453Arg)
c.49354G>C (p.Gly16452Arg)
c.46396G>C (p.Gly15466Arg)
c.28012G>C (p.Gly9338Arg)
c.49507G>C (p.Gly16503Arg)
c.49504G>C (p.Gly16502Arg)
c.48937G>C (p.Gly16313Arg)
c.46279G>C (p.Gly15427Arg)
c.46198G>C (p.Gly15400Arg)
c.27961G>C (p.Gly9321Arg)
c.17815G>C (p.Gly5939Arg)
2g.178602336C>TCA349545234TTN,TTN-AS1c.47362G>A (p.Gly15788Ser)
c.28447G>A (p.Gly9483Ser)
c.28246G>A (p.Gly9416Ser)
c.27871G>A (p.Gly9291Ser)
c.55066G>A (p.Gly18356Ser)
c.50143G>A (p.Gly16715Ser)
n.682+4655C>T
n.3917+1669C>T
c.54163G>A (p.Gly18055Ser)
c.28057G>A (p.Gly9353Ser)
c.27916G>A (p.Gly9306Ser)
c.53959G>A (p.Gly17987Ser)
c.49357G>A (p.Gly16453Ser)
c.49354G>A (p.Gly16452Ser)
c.46396G>A (p.Gly15466Ser)
c.28012G>A (p.Gly9338Ser)
c.49507G>A (p.Gly16503Ser)
c.49504G>A (p.Gly16502Ser)
c.48937G>A (p.Gly16313Ser)
c.46279G>A (p.Gly15427Ser)
c.46198G>A (p.Gly15400Ser)
c.27961G>A (p.Gly9321Ser)
c.17815G>A (p.Gly5939Ser)
 dbSNP
2g.178602337A>CCA430269340TTN,TTN-AS1c.47361T>G (p.Ala15787=)
c.28446T>G (p.Ala9482=)
c.28245T>G (p.Ala9415=)
c.27870T>G (p.Ala9290=)
c.55065T>G (p.Ala18355=)
c.50142T>G (p.Ala16714=)
n.682+4656A>C
n.3917+1670A>C
c.54162T>G (p.Ala18054=)
c.28056T>G (p.Ala9352=)
c.27915T>G (p.Ala9305=)
c.53958T>G (p.Ala17986=)
c.49356T>G (p.Ala16452=)
c.49353T>G (p.Ala16451=)
c.46395T>G (p.Ala15465=)
c.28011T>G (p.Ala9337=)
c.49506T>G (p.Ala16502=)
c.49503T>G (p.Ala16501=)
c.48936T>G (p.Ala16312=)
c.46278T>G (p.Ala15426=)
c.46197T>G (p.Ala15399=)
c.27960T>G (p.Ala9320=)
c.17814T>G (p.Ala5938=)
2g.178602337A>GCA430269341TTN,TTN-AS1c.47361T>C (p.Ala15787=)
c.28446T>C (p.Ala9482=)
c.28245T>C (p.Ala9415=)
c.27870T>C (p.Ala9290=)
c.55065T>C (p.Ala18355=)
c.50142T>C (p.Ala16714=)
n.682+4656A>G
n.3917+1670A>G
c.54162T>C (p.Ala18054=)
c.28056T>C (p.Ala9352=)
c.27915T>C (p.Ala9305=)
c.53958T>C (p.Ala17986=)
c.49356T>C (p.Ala16452=)
c.49353T>C (p.Ala16451=)
c.46395T>C (p.Ala15465=)
c.28011T>C (p.Ala9337=)
c.49506T>C (p.Ala16502=)
c.49503T>C (p.Ala16501=)
c.48936T>C (p.Ala16312=)
c.46278T>C (p.Ala15426=)
c.46197T>C (p.Ala15399=)
c.27960T>C (p.Ala9320=)
c.17814T>C (p.Ala5938=)
2g.178602337A>TCA430269343TTN,TTN-AS1c.47361T>A (p.Ala15787=)
c.28446T>A (p.Ala9482=)
c.28245T>A (p.Ala9415=)
c.27870T>A (p.Ala9290=)
c.55065T>A (p.Ala18355=)
c.50142T>A (p.Ala16714=)
n.682+4656A>T
n.3917+1670A>T
c.54162T>A (p.Ala18054=)
c.28056T>A (p.Ala9352=)
c.27915T>A (p.Ala9305=)
c.53958T>A (p.Ala17986=)
c.49356T>A (p.Ala16452=)
c.49353T>A (p.Ala16451=)
c.46395T>A (p.Ala15465=)
c.28011T>A (p.Ala9337=)
c.49506T>A (p.Ala16502=)
c.49503T>A (p.Ala16501=)
c.48936T>A (p.Ala16312=)
c.46278T>A (p.Ala15426=)
c.46197T>A (p.Ala15399=)
c.27960T>A (p.Ala9320=)
c.17814T>A (p.Ala5938=)
2g.178602338G>ACA60978389TTN,TTN-AS1c.47360C>T (p.Ala15787Val)
c.28445C>T (p.Ala9482Val)
c.28244C>T (p.Ala9415Val)
c.27869C>T (p.Ala9290Val)
c.55064C>T (p.Ala18355Val)
c.50141C>T (p.Ala16714Val)
n.682+4657G>A
n.3917+1671G>A
c.54161C>T (p.Ala18054Val)
c.28055C>T (p.Ala9352Val)
c.27914C>T (p.Ala9305Val)
c.53957C>T (p.Ala17986Val)
c.49355C>T (p.Ala16452Val)
c.49352C>T (p.Ala16451Val)
c.46394C>T (p.Ala15465Val)
c.28010C>T (p.Ala9337Val)
c.49505C>T (p.Ala16502Val)
c.49502C>T (p.Ala16501Val)
c.48935C>T (p.Ala16312Val)
c.46277C>T (p.Ala15426Val)
c.46196C>T (p.Ala15399Val)
c.27959C>T (p.Ala9320Val)
c.17813C>T (p.Ala5938Val)
 dbSNP gnomAD v4
2g.178602338G>CCA349545240TTN,TTN-AS1c.47360C>G (p.Ala15787Gly)
c.28445C>G (p.Ala9482Gly)
c.28244C>G (p.Ala9415Gly)
c.27869C>G (p.Ala9290Gly)
c.55064C>G (p.Ala18355Gly)
c.50141C>G (p.Ala16714Gly)
n.682+4657G>C
n.3917+1671G>C
c.54161C>G (p.Ala18054Gly)
c.28055C>G (p.Ala9352Gly)
c.27914C>G (p.Ala9305Gly)
c.53957C>G (p.Ala17986Gly)
c.49355C>G (p.Ala16452Gly)
c.49352C>G (p.Ala16451Gly)
c.46394C>G (p.Ala15465Gly)
c.28010C>G (p.Ala9337Gly)
c.49505C>G (p.Ala16502Gly)
c.49502C>G (p.Ala16501Gly)
c.48935C>G (p.Ala16312Gly)
c.46277C>G (p.Ala15426Gly)
c.46196C>G (p.Ala15399Gly)
c.27959C>G (p.Ala9320Gly)
c.17813C>G (p.Ala5938Gly)
2g.178602338G=CA1310544481TTN,TTN-AS1c.47360C= (p.Ala15787=)
c.28445C= (p.Ala9482=)
c.28244C= (p.Ala9415=)
c.27869C= (p.Ala9290=)
c.55064C= (p.Ala18355=)
c.50141C= (p.Ala16714=)
n.682+4657G=
n.3917+1671G=
c.54161C= (p.Ala18054=)
c.28055C= (p.Ala9352=)
c.27914C= (p.Ala9305=)
c.53957C= (p.Ala17986=)
c.49355C= (p.Ala16452=)
c.49352C= (p.Ala16451=)
c.46394C= (p.Ala15465=)
c.28010C= (p.Ala9337=)
c.49505C= (p.Ala16502=)
c.49502C= (p.Ala16501=)
c.48935C= (p.Ala16312=)
c.46277C= (p.Ala15426=)
c.46196C= (p.Ala15399=)
c.27959C= (p.Ala9320=)
c.17813C= (p.Ala5938=)
2g.178602338G>TCA349545241TTN,TTN-AS1c.47360C>A (p.Ala15787Asp)
c.28445C>A (p.Ala9482Asp)
c.28244C>A (p.Ala9415Asp)
c.27869C>A (p.Ala9290Asp)
c.55064C>A (p.Ala18355Asp)
c.50141C>A (p.Ala16714Asp)
n.682+4657G>T
n.3917+1671G>T
c.54161C>A (p.Ala18054Asp)
c.28055C>A (p.Ala9352Asp)
c.27914C>A (p.Ala9305Asp)
c.53957C>A (p.Ala17986Asp)
c.49355C>A (p.Ala16452Asp)
c.49352C>A (p.Ala16451Asp)
c.46394C>A (p.Ala15465Asp)
c.28010C>A (p.Ala9337Asp)
c.49505C>A (p.Ala16502Asp)
c.49502C>A (p.Ala16501Asp)
c.48935C>A (p.Ala16312Asp)
c.46277C>A (p.Ala15426Asp)
c.46196C>A (p.Ala15399Asp)
c.27959C>A (p.Ala9320Asp)
c.17813C>A (p.Ala5938Asp)
2g.178602339C>ACA349545247TTN,TTN-AS1c.47359G>T (p.Ala15787Ser)
c.28444G>T (p.Ala9482Ser)
c.28243G>T (p.Ala9415Ser)
c.27868G>T (p.Ala9290Ser)
c.55063G>T (p.Ala18355Ser)
c.50140G>T (p.Ala16714Ser)
n.682+4658C>A
n.3917+1672C>A
c.54160G>T (p.Ala18054Ser)
c.28054G>T (p.Ala9352Ser)
c.27913G>T (p.Ala9305Ser)
c.53956G>T (p.Ala17986Ser)
c.49354G>T (p.Ala16452Ser)
c.49351G>T (p.Ala16451Ser)
c.46393G>T (p.Ala15465Ser)
c.28009G>T (p.Ala9337Ser)
c.49504G>T (p.Ala16502Ser)
c.49501G>T (p.Ala16501Ser)
c.48934G>T (p.Ala16312Ser)
c.46276G>T (p.Ala15426Ser)
c.46195G>T (p.Ala15399Ser)
c.27958G>T (p.Ala9320Ser)
c.17812G>T (p.Ala5938Ser)
2g.178602339C=CA1310544482TTN,TTN-AS1c.47359G= (p.Ala15787=)
c.28444G= (p.Ala9482=)
c.28243G= (p.Ala9415=)
c.27868G= (p.Ala9290=)
c.55063G= (p.Ala18355=)
c.50140G= (p.Ala16714=)
n.682+4658C=
n.3917+1672C=
c.54160G= (p.Ala18054=)
c.28054G= (p.Ala9352=)
c.27913G= (p.Ala9305=)
c.53956G= (p.Ala17986=)
c.49354G= (p.Ala16452=)
c.49351G= (p.Ala16451=)
c.46393G= (p.Ala15465=)
c.28009G= (p.Ala9337=)
c.49504G= (p.Ala16502=)
c.49501G= (p.Ala16501=)
c.48934G= (p.Ala16312=)
c.46276G= (p.Ala15426=)
c.46195G= (p.Ala15399=)
c.27958G= (p.Ala9320=)
c.17812G= (p.Ala5938=)
2g.178602339C>GCA349545250TTN,TTN-AS1c.47359G>C (p.Ala15787Pro)
c.28444G>C (p.Ala9482Pro)
c.28243G>C (p.Ala9415Pro)
c.27868G>C (p.Ala9290Pro)
c.55063G>C (p.Ala18355Pro)
c.50140G>C (p.Ala16714Pro)
n.682+4658C>G
n.3917+1672C>G
c.54160G>C (p.Ala18054Pro)
c.28054G>C (p.Ala9352Pro)
c.27913G>C (p.Ala9305Pro)
c.53956G>C (p.Ala17986Pro)
c.49354G>C (p.Ala16452Pro)
c.49351G>C (p.Ala16451Pro)
c.46393G>C (p.Ala15465Pro)
c.28009G>C (p.Ala9337Pro)
c.49504G>C (p.Ala16502Pro)
c.49501G>C (p.Ala16501Pro)
c.48934G>C (p.Ala16312Pro)
c.46276G>C (p.Ala15426Pro)
c.46195G>C (p.Ala15399Pro)
c.27958G>C (p.Ala9320Pro)
c.17812G>C (p.Ala5938Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.178602339C>TCA349545255TTN,TTN-AS1c.47359G>A (p.Ala15787Thr)
c.28444G>A (p.Ala9482Thr)
c.28243G>A (p.Ala9415Thr)
c.27868G>A (p.Ala9290Thr)
c.55063G>A (p.Ala18355Thr)
c.50140G>A (p.Ala16714Thr)
n.682+4658C>T
n.3917+1672C>T
c.54160G>A (p.Ala18054Thr)
c.28054G>A (p.Ala9352Thr)
c.27913G>A (p.Ala9305Thr)
c.53956G>A (p.Ala17986Thr)
c.49354G>A (p.Ala16452Thr)
c.49351G>A (p.Ala16451Thr)
c.46393G>A (p.Ala15465Thr)
c.28009G>A (p.Ala9337Thr)
c.49504G>A (p.Ala16502Thr)
c.49501G>A (p.Ala16501Thr)
c.48934G>A (p.Ala16312Thr)
c.46276G>A (p.Ala15426Thr)
c.46195G>A (p.Ala15399Thr)
c.27958G>A (p.Ala9320Thr)
c.17812G>A (p.Ala5938Thr)
2g.178602340T>ACA349545261TTN,TTN-AS1c.47358A>T (p.Glu15786Asp)
c.28443A>T (p.Glu9481Asp)
c.28242A>T (p.Glu9414Asp)
c.27867A>T (p.Glu9289Asp)
c.55062A>T (p.Glu18354Asp)
c.50139A>T (p.Glu16713Asp)
n.682+4659T>A
n.3917+1673T>A
c.54159A>T (p.Glu18053Asp)
c.28053A>T (p.Glu9351Asp)
c.27912A>T (p.Glu9304Asp)
c.53955A>T (p.Glu17985Asp)
c.49353A>T (p.Glu16451Asp)
c.49350A>T (p.Glu16450Asp)
c.46392A>T (p.Glu15464Asp)
c.28008A>T (p.Glu9336Asp)
c.49503A>T (p.Glu16501Asp)
c.49500A>T (p.Glu16500Asp)
c.48933A>T (p.Glu16311Asp)
c.46275A>T (p.Glu15425Asp)
c.46194A>T (p.Glu15398Asp)
c.27957A>T (p.Glu9319Asp)
c.17811A>T (p.Glu5937Asp)
2g.178602340T>CCA430269347TTN,TTN-AS1c.47358A>G (p.Glu15786=)
c.28443A>G (p.Glu9481=)
c.28242A>G (p.Glu9414=)
c.27867A>G (p.Glu9289=)
c.55062A>G (p.Glu18354=)
c.50139A>G (p.Glu16713=)
n.682+4659T>C
n.3917+1673T>C
c.54159A>G (p.Glu18053=)
c.28053A>G (p.Glu9351=)
c.27912A>G (p.Glu9304=)
c.53955A>G (p.Glu17985=)
c.49353A>G (p.Glu16451=)
c.49350A>G (p.Glu16450=)
c.46392A>G (p.Glu15464=)
c.28008A>G (p.Glu9336=)
c.49503A>G (p.Glu16501=)
c.49500A>G (p.Glu16500=)
c.48933A>G (p.Glu16311=)
c.46275A>G (p.Glu15425=)
c.46194A>G (p.Glu15398=)
c.27957A>G (p.Glu9319=)
c.17811A>G (p.Glu5937=)
 ClinVar dbSNP
2g.178602340T>GCA349545265TTN,TTN-AS1c.47358A>C (p.Glu15786Asp)
c.28443A>C (p.Glu9481Asp)
c.28242A>C (p.Glu9414Asp)
c.27867A>C (p.Glu9289Asp)
c.55062A>C (p.Glu18354Asp)
c.50139A>C (p.Glu16713Asp)
n.682+4659T>G
n.3917+1673T>G
c.54159A>C (p.Glu18053Asp)
c.28053A>C (p.Glu9351Asp)
c.27912A>C (p.Glu9304Asp)
c.53955A>C (p.Glu17985Asp)
c.49353A>C (p.Glu16451Asp)
c.49350A>C (p.Glu16450Asp)
c.46392A>C (p.Glu15464Asp)
c.28008A>C (p.Glu9336Asp)
c.49503A>C (p.Glu16501Asp)
c.49500A>C (p.Glu16500Asp)
c.48933A>C (p.Glu16311Asp)
c.46275A>C (p.Glu15425Asp)
c.46194A>C (p.Glu15398Asp)
c.27957A>C (p.Glu9319Asp)
c.17811A>C (p.Glu5937Asp)
2g.178602341T>ACA349545270TTN,TTN-AS1c.47357A>T (p.Glu15786Val)
c.28442A>T (p.Glu9481Val)
c.28241A>T (p.Glu9414Val)
c.27866A>T (p.Glu9289Val)
c.55061A>T (p.Glu18354Val)
c.50138A>T (p.Glu16713Val)
n.682+4660T>A
n.3917+1674T>A
c.54158A>T (p.Glu18053Val)
c.28052A>T (p.Glu9351Val)
c.27911A>T (p.Glu9304Val)
c.53954A>T (p.Glu17985Val)
c.49352A>T (p.Glu16451Val)
c.49349A>T (p.Glu16450Val)
c.46391A>T (p.Glu15464Val)
c.28007A>T (p.Glu9336Val)
c.49502A>T (p.Glu16501Val)
c.49499A>T (p.Glu16500Val)
c.48932A>T (p.Glu16311Val)
c.46274A>T (p.Glu15425Val)
c.46193A>T (p.Glu15398Val)
c.27956A>T (p.Glu9319Val)
c.17810A>T (p.Glu5937Val)
2g.178602341T>CCA349545272TTN,TTN-AS1c.47357A>G (p.Glu15786Gly)
c.28442A>G (p.Glu9481Gly)
c.28241A>G (p.Glu9414Gly)
c.27866A>G (p.Glu9289Gly)
c.55061A>G (p.Glu18354Gly)
c.50138A>G (p.Glu16713Gly)
n.682+4660T>C
n.3917+1674T>C
c.54158A>G (p.Glu18053Gly)
c.28052A>G (p.Glu9351Gly)
c.27911A>G (p.Glu9304Gly)
c.53954A>G (p.Glu17985Gly)
c.49352A>G (p.Glu16451Gly)
c.49349A>G (p.Glu16450Gly)
c.46391A>G (p.Glu15464Gly)
c.28007A>G (p.Glu9336Gly)
c.49502A>G (p.Glu16501Gly)
c.49499A>G (p.Glu16500Gly)
c.48932A>G (p.Glu16311Gly)
c.46274A>G (p.Glu15425Gly)
c.46193A>G (p.Glu15398Gly)
c.27956A>G (p.Glu9319Gly)
c.17810A>G (p.Glu5937Gly)
 gnomAD v4
2g.178602341T>GCA349545271TTN,TTN-AS1c.47357A>C (p.Glu15786Ala)
c.28442A>C (p.Glu9481Ala)
c.28241A>C (p.Glu9414Ala)
c.27866A>C (p.Glu9289Ala)
c.55061A>C (p.Glu18354Ala)
c.50138A>C (p.Glu16713Ala)
n.682+4660T>G
n.3917+1674T>G
c.54158A>C (p.Glu18053Ala)
c.28052A>C (p.Glu9351Ala)
c.27911A>C (p.Glu9304Ala)
c.53954A>C (p.Glu17985Ala)
c.49352A>C (p.Glu16451Ala)
c.49349A>C (p.Glu16450Ala)
c.46391A>C (p.Glu15464Ala)
c.28007A>C (p.Glu9336Ala)
c.49502A>C (p.Glu16501Ala)
c.49499A>C (p.Glu16500Ala)
c.48932A>C (p.Glu16311Ala)
c.46274A>C (p.Glu15425Ala)
c.46193A>C (p.Glu15398Ala)
c.27956A>C (p.Glu9319Ala)
c.17810A>C (p.Glu5937Ala)
2g.178602342C>ACA349545276TTN,TTN-AS1c.47356G>T (p.Glu15786Ter)
c.28441G>T (p.Glu9481Ter)
c.28240G>T (p.Glu9414Ter)
c.27865G>T (p.Glu9289Ter)
c.55060G>T (p.Glu18354Ter)
c.50137G>T (p.Glu16713Ter)
n.682+4661C>A
n.3917+1675C>A
c.54157G>T (p.Glu18053Ter)
c.28051G>T (p.Glu9351Ter)
c.27910G>T (p.Glu9304Ter)
c.53953G>T (p.Glu17985Ter)
c.49351G>T (p.Glu16451Ter)
c.49348G>T (p.Glu16450Ter)
c.46390G>T (p.Glu15464Ter)
c.28006G>T (p.Glu9336Ter)
c.49501G>T (p.Glu16501Ter)
c.49498G>T (p.Glu16500Ter)
c.48931G>T (p.Glu16311Ter)
c.46273G>T (p.Glu15425Ter)
c.46192G>T (p.Glu15398Ter)
c.27955G>T (p.Glu9319Ter)
c.17809G>T (p.Glu5937Ter)
2g.178602342C=CA1310544483TTN,TTN-AS1c.47356G= (p.Glu15786=)
c.28441G= (p.Glu9481=)
c.28240G= (p.Glu9414=)
c.27865G= (p.Glu9289=)
c.55060G= (p.Glu18354=)
c.50137G= (p.Glu16713=)
n.682+4661C=
n.3917+1675C=
c.54157G= (p.Glu18053=)
c.28051G= (p.Glu9351=)
c.27910G= (p.Glu9304=)
c.53953G= (p.Glu17985=)
c.49351G= (p.Glu16451=)
c.49348G= (p.Glu16450=)
c.46390G= (p.Glu15464=)
c.28006G= (p.Glu9336=)
c.49501G= (p.Glu16501=)
c.49498G= (p.Glu16500=)
c.48931G= (p.Glu16311=)
c.46273G= (p.Glu15425=)
c.46192G= (p.Glu15398=)
c.27955G= (p.Glu9319=)
c.17809G= (p.Glu5937=)
2g.178602342C>GCA349545283TTN,TTN-AS1c.47356G>C (p.Glu15786Gln)
c.28441G>C (p.Glu9481Gln)
c.28240G>C (p.Glu9414Gln)
c.27865G>C (p.Glu9289Gln)
c.55060G>C (p.Glu18354Gln)
c.50137G>C (p.Glu16713Gln)
n.682+4661C>G
n.3917+1675C>G
c.54157G>C (p.Glu18053Gln)
c.28051G>C (p.Glu9351Gln)
c.27910G>C (p.Glu9304Gln)
c.53953G>C (p.Glu17985Gln)
c.49351G>C (p.Glu16451Gln)
c.49348G>C (p.Glu16450Gln)
c.46390G>C (p.Glu15464Gln)
c.28006G>C (p.Glu9336Gln)
c.49501G>C (p.Glu16501Gln)
c.49498G>C (p.Glu16500Gln)
c.48931G>C (p.Glu16311Gln)
c.46273G>C (p.Glu15425Gln)
c.46192G>C (p.Glu15398Gln)
c.27955G>C (p.Glu9319Gln)
c.17809G>C (p.Glu5937Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178602342C>TCA349545292TTN,TTN-AS1c.47356G>A (p.Glu15786Lys)
c.28441G>A (p.Glu9481Lys)
c.28240G>A (p.Glu9414Lys)
c.27865G>A (p.Glu9289Lys)
c.55060G>A (p.Glu18354Lys)
c.50137G>A (p.Glu16713Lys)
n.682+4661C>T
n.3917+1675C>T
c.54157G>A (p.Glu18053Lys)
c.28051G>A (p.Glu9351Lys)
c.27910G>A (p.Glu9304Lys)
c.53953G>A (p.Glu17985Lys)
c.49351G>A (p.Glu16451Lys)
c.49348G>A (p.Glu16450Lys)
c.46390G>A (p.Glu15464Lys)
c.28006G>A (p.Glu9336Lys)
c.49501G>A (p.Glu16501Lys)
c.49498G>A (p.Glu16500Lys)
c.48931G>A (p.Glu16311Lys)
c.46273G>A (p.Glu15425Lys)
c.46192G>A (p.Glu15398Lys)
c.27955G>A (p.Glu9319Lys)
c.17809G>A (p.Glu5937Lys)
 ClinVar dbSNP
2g.178602343A=CA1310544484TTN,TTN-AS1c.47355T= (p.Asn15785=)
c.28440T= (p.Asn9480=)
c.28239T= (p.Asn9413=)
c.27864T= (p.Asn9288=)
c.55059T= (p.Asn18353=)
c.50136T= (p.Asn16712=)
n.682+4662A=
n.3917+1676A=
c.54156T= (p.Asn18052=)
c.28050T= (p.Asn9350=)
c.27909T= (p.Asn9303=)
c.53952T= (p.Asn17984=)
c.49350T= (p.Asn16450=)
c.49347T= (p.Asn16449=)
c.46389T= (p.Asn15463=)
c.28005T= (p.Asn9335=)
c.49500T= (p.Asn16500=)
c.49497T= (p.Asn16499=)
c.48930T= (p.Asn16310=)
c.46272T= (p.Asn15424=)
c.46191T= (p.Asn15397=)
c.27954T= (p.Asn9318=)
c.17808T= (p.Asn5936=)
2g.178602343A>CCA349545296TTN,TTN-AS1c.47355T>G (p.Asn15785Lys)
c.28440T>G (p.Asn9480Lys)
c.28239T>G (p.Asn9413Lys)
c.27864T>G (p.Asn9288Lys)
c.55059T>G (p.Asn18353Lys)
c.50136T>G (p.Asn16712Lys)
n.682+4662A>C
n.3917+1676A>C
c.54156T>G (p.Asn18052Lys)
c.28050T>G (p.Asn9350Lys)
c.27909T>G (p.Asn9303Lys)
c.53952T>G (p.Asn17984Lys)
c.49350T>G (p.Asn16450Lys)
c.49347T>G (p.Asn16449Lys)
c.46389T>G (p.Asn15463Lys)
c.28005T>G (p.Asn9335Lys)
c.49500T>G (p.Asn16500Lys)
c.49497T>G (p.Asn16499Lys)
c.48930T>G (p.Asn16310Lys)
c.46272T>G (p.Asn15424Lys)
c.46191T>G (p.Asn15397Lys)
c.27954T>G (p.Asn9318Lys)
c.17808T>G (p.Asn5936Lys)
2g.178602343A>GCA1993540TTN,TTN-AS1c.47355T>C (p.Asn15785=)
c.28440T>C (p.Asn9480=)
c.28239T>C (p.Asn9413=)
c.27864T>C (p.Asn9288=)
c.55059T>C (p.Asn18353=)
c.50136T>C (p.Asn16712=)
n.682+4662A>G
n.3917+1676A>G
c.54156T>C (p.Asn18052=)
c.28050T>C (p.Asn9350=)
c.27909T>C (p.Asn9303=)
c.53952T>C (p.Asn17984=)
c.49350T>C (p.Asn16450=)
c.49347T>C (p.Asn16449=)
c.46389T>C (p.Asn15463=)
c.28005T>C (p.Asn9335=)
c.49500T>C (p.Asn16500=)
c.49497T>C (p.Asn16499=)
c.48930T>C (p.Asn16310=)
c.46272T>C (p.Asn15424=)
c.46191T>C (p.Asn15397=)
c.27954T>C (p.Asn9318=)
c.17808T>C (p.Asn5936=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178602343A>TCA349545305TTN,TTN-AS1c.47355T>A (p.Asn15785Lys)
c.28440T>A (p.Asn9480Lys)
c.28239T>A (p.Asn9413Lys)
c.27864T>A (p.Asn9288Lys)
c.55059T>A (p.Asn18353Lys)
c.50136T>A (p.Asn16712Lys)
n.682+4662A>T
n.3917+1676A>T
c.54156T>A (p.Asn18052Lys)
c.28050T>A (p.Asn9350Lys)
c.27909T>A (p.Asn9303Lys)
c.53952T>A (p.Asn17984Lys)
c.49350T>A (p.Asn16450Lys)
c.49347T>A (p.Asn16449Lys)
c.46389T>A (p.Asn15463Lys)
c.28005T>A (p.Asn9335Lys)
c.49500T>A (p.Asn16500Lys)
c.49497T>A (p.Asn16499Lys)
c.48930T>A (p.Asn16310Lys)
c.46272T>A (p.Asn15424Lys)
c.46191T>A (p.Asn15397Lys)
c.27954T>A (p.Asn9318Lys)
c.17808T>A (p.Asn5936Lys)
2g.178602344T>ACA349545313TTN,TTN-AS1c.47354A>T (p.Asn15785Ile)
c.28439A>T (p.Asn9480Ile)
c.28238A>T (p.Asn9413Ile)
c.27863A>T (p.Asn9288Ile)
c.55058A>T (p.Asn18353Ile)
c.50135A>T (p.Asn16712Ile)
n.682+4663T>A
n.3917+1677T>A
c.54155A>T (p.Asn18052Ile)
c.28049A>T (p.Asn9350Ile)
c.27908A>T (p.Asn9303Ile)
c.53951A>T (p.Asn17984Ile)
c.49349A>T (p.Asn16450Ile)
c.49346A>T (p.Asn16449Ile)
c.46388A>T (p.Asn15463Ile)
c.28004A>T (p.Asn9335Ile)
c.49499A>T (p.Asn16500Ile)
c.49496A>T (p.Asn16499Ile)
c.48929A>T (p.Asn16310Ile)
c.46271A>T (p.Asn15424Ile)
c.46190A>T (p.Asn15397Ile)
c.27953A>T (p.Asn9318Ile)
c.17807A>T (p.Asn5936Ile)
2g.178602344T>CCA1993541TTN,TTN-AS1c.47354A>G (p.Asn15785Ser)
c.28439A>G (p.Asn9480Ser)
c.28238A>G (p.Asn9413Ser)
c.27863A>G (p.Asn9288Ser)
c.55058A>G (p.Asn18353Ser)
c.50135A>G (p.Asn16712Ser)
n.682+4663T>C
n.3917+1677T>C
c.54155A>G (p.Asn18052Ser)
c.28049A>G (p.Asn9350Ser)
c.27908A>G (p.Asn9303Ser)
c.53951A>G (p.Asn17984Ser)
c.49349A>G (p.Asn16450Ser)
c.49346A>G (p.Asn16449Ser)
c.46388A>G (p.Asn15463Ser)
c.28004A>G (p.Asn9335Ser)
c.49499A>G (p.Asn16500Ser)
c.49496A>G (p.Asn16499Ser)
c.48929A>G (p.Asn16310Ser)
c.46271A>G (p.Asn15424Ser)
c.46190A>G (p.Asn15397Ser)
c.27953A>G (p.Asn9318Ser)
c.17807A>G (p.Asn5936Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178602344T>GCA349545318TTN,TTN-AS1c.47354A>C (p.Asn15785Thr)
c.28439A>C (p.Asn9480Thr)
c.28238A>C (p.Asn9413Thr)
c.27863A>C (p.Asn9288Thr)
c.55058A>C (p.Asn18353Thr)
c.50135A>C (p.Asn16712Thr)
n.682+4663T>G
n.3917+1677T>G
c.54155A>C (p.Asn18052Thr)
c.28049A>C (p.Asn9350Thr)
c.27908A>C (p.Asn9303Thr)
c.53951A>C (p.Asn17984Thr)
c.49349A>C (p.Asn16450Thr)
c.49346A>C (p.Asn16449Thr)
c.46388A>C (p.Asn15463Thr)
c.28004A>C (p.Asn9335Thr)
c.49499A>C (p.Asn16500Thr)
c.49496A>C (p.Asn16499Thr)
c.48929A>C (p.Asn16310Thr)
c.46271A>C (p.Asn15424Thr)
c.46190A>C (p.Asn15397Thr)
c.27953A>C (p.Asn9318Thr)
c.17807A>C (p.Asn5936Thr)

Number of alleles fetched