UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178577867_178577925delinsCCAAGGCATGG | CA2573320280 | TTN,TTN-AS1 | c.60824-27_60855delinsCCATGCCTTGG c.41909-27_41940delinsCCATGCCTTGG c.41708-27_41739delinsCCATGCCTTGG c.41333-27_41364delinsCCATGCCTTGG c.68528-27_68559delinsCCATGCCTTGG c.63605-27_63636delinsCCATGCCTTGG n.596+6418_596+6476delinsCCAAGGCATGG n.2044-4705_2044-4647delinsCCAAGGCATGG c.67625-27_67656delinsCCATGCCTTGG c.41519-27_41550delinsCCATGCCTTGG c.41378-27_41409delinsCCATGCCTTGG c.67421-27_67452delinsCCATGCCTTGG c.62819-27_62850delinsCCATGCCTTGG c.62816-27_62847delinsCCATGCCTTGG c.59858-27_59889delinsCCATGCCTTGG c.41474-27_41505delinsCCATGCCTTGG c.62969-27_63000delinsCCATGCCTTGG c.62966-27_62997delinsCCATGCCTTGG c.62399-27_62430delinsCCATGCCTTGG c.59741-27_59772delinsCCATGCCTTGG c.59660-27_59691delinsCCATGCCTTGG c.41423-27_41454delinsCCATGCCTTGG c.31277-27_31308delinsCCATGCCTTGG | |
| 2 | g.178577890C>A | CA349672028 | TTN,TTN-AS1 | c.60832G>T (p.Gly20278Ter) c.41917G>T (p.Gly13973Ter) c.41716G>T (p.Gly13906Ter) c.41341G>T (p.Gly13781Ter) c.68536G>T (p.Gly22846Ter) c.63613G>T (p.Gly21205Ter) n.596+6441C>A n.2044-4682C>A c.67633G>T (p.Gly22545Ter) c.41527G>T (p.Gly13843Ter) c.41386G>T (p.Gly13796Ter) c.67429G>T (p.Gly22477Ter) c.62827G>T (p.Gly20943Ter) c.62824G>T (p.Gly20942Ter) c.59866G>T (p.Gly19956Ter) c.41482G>T (p.Gly13828Ter) c.62977G>T (p.Gly20993Ter) c.62974G>T (p.Gly20992Ter) c.62407G>T (p.Gly20803Ter) c.59749G>T (p.Gly19917Ter) c.59668G>T (p.Gly19890Ter) c.41431G>T (p.Gly13811Ter) c.31285G>T (p.Gly10429Ter) | gnomAD v4 |
| 2 | g.178577890C>G | CA349672030 | TTN,TTN-AS1 | c.60832G>C (p.Gly20278Arg) c.41917G>C (p.Gly13973Arg) c.41716G>C (p.Gly13906Arg) c.41341G>C (p.Gly13781Arg) c.68536G>C (p.Gly22846Arg) c.63613G>C (p.Gly21205Arg) n.596+6441C>G n.2044-4682C>G c.67633G>C (p.Gly22545Arg) c.41527G>C (p.Gly13843Arg) c.41386G>C (p.Gly13796Arg) c.67429G>C (p.Gly22477Arg) c.62827G>C (p.Gly20943Arg) c.62824G>C (p.Gly20942Arg) c.59866G>C (p.Gly19956Arg) c.41482G>C (p.Gly13828Arg) c.62977G>C (p.Gly20993Arg) c.62974G>C (p.Gly20992Arg) c.62407G>C (p.Gly20803Arg) c.59749G>C (p.Gly19917Arg) c.59668G>C (p.Gly19890Arg) c.41431G>C (p.Gly13811Arg) c.31285G>C (p.Gly10429Arg) | |
| 2 | g.178577890C>T | CA349672031 | TTN,TTN-AS1 | c.60832G>A (p.Gly20278Arg) c.41917G>A (p.Gly13973Arg) c.41716G>A (p.Gly13906Arg) c.41341G>A (p.Gly13781Arg) c.68536G>A (p.Gly22846Arg) c.63613G>A (p.Gly21205Arg) n.596+6441C>T n.2044-4682C>T c.67633G>A (p.Gly22545Arg) c.41527G>A (p.Gly13843Arg) c.41386G>A (p.Gly13796Arg) c.67429G>A (p.Gly22477Arg) c.62827G>A (p.Gly20943Arg) c.62824G>A (p.Gly20942Arg) c.59866G>A (p.Gly19956Arg) c.41482G>A (p.Gly13828Arg) c.62977G>A (p.Gly20993Arg) c.62974G>A (p.Gly20992Arg) c.62407G>A (p.Gly20803Arg) c.59749G>A (p.Gly19917Arg) c.59668G>A (p.Gly19890Arg) c.41431G>A (p.Gly13811Arg) c.31285G>A (p.Gly10429Arg) | |
| 2 | g.178577891A>C | CA430259575 | TTN,TTN-AS1 | c.60831T>G (p.Pro20277=) c.41916T>G (p.Pro13972=) c.41715T>G (p.Pro13905=) c.41340T>G (p.Pro13780=) c.68535T>G (p.Pro22845=) c.63612T>G (p.Pro21204=) n.596+6442A>C n.2044-4681A>C c.67632T>G (p.Pro22544=) c.41526T>G (p.Pro13842=) c.41385T>G (p.Pro13795=) c.67428T>G (p.Pro22476=) c.62826T>G (p.Pro20942=) c.62823T>G (p.Pro20941=) c.59865T>G (p.Pro19955=) c.41481T>G (p.Pro13827=) c.62976T>G (p.Pro20992=) c.62973T>G (p.Pro20991=) c.62406T>G (p.Pro20802=) c.59748T>G (p.Pro19916=) c.59667T>G (p.Pro19889=) c.41430T>G (p.Pro13810=) c.31284T>G (p.Pro10428=) | |
| 2 | g.178577891A>G | CA430259579 | TTN,TTN-AS1 | c.60831T>C (p.Pro20277=) c.41916T>C (p.Pro13972=) c.41715T>C (p.Pro13905=) c.41340T>C (p.Pro13780=) c.68535T>C (p.Pro22845=) c.63612T>C (p.Pro21204=) n.596+6442A>G n.2044-4681A>G c.67632T>C (p.Pro22544=) c.41526T>C (p.Pro13842=) c.41385T>C (p.Pro13795=) c.67428T>C (p.Pro22476=) c.62826T>C (p.Pro20942=) c.62823T>C (p.Pro20941=) c.59865T>C (p.Pro19955=) c.41481T>C (p.Pro13827=) c.62976T>C (p.Pro20992=) c.62973T>C (p.Pro20991=) c.62406T>C (p.Pro20802=) c.59748T>C (p.Pro19916=) c.59667T>C (p.Pro19889=) c.41430T>C (p.Pro13810=) c.31284T>C (p.Pro10428=) | |
| 2 | g.178577891A>T | CA430259582 | TTN,TTN-AS1 | c.60831T>A (p.Pro20277=) c.41916T>A (p.Pro13972=) c.41715T>A (p.Pro13905=) c.41340T>A (p.Pro13780=) c.68535T>A (p.Pro22845=) c.63612T>A (p.Pro21204=) n.596+6442A>T n.2044-4681A>T c.67632T>A (p.Pro22544=) c.41526T>A (p.Pro13842=) c.41385T>A (p.Pro13795=) c.67428T>A (p.Pro22476=) c.62826T>A (p.Pro20942=) c.62823T>A (p.Pro20941=) c.59865T>A (p.Pro19955=) c.41481T>A (p.Pro13827=) c.62976T>A (p.Pro20992=) c.62973T>A (p.Pro20991=) c.62406T>A (p.Pro20802=) c.59748T>A (p.Pro19916=) c.59667T>A (p.Pro19889=) c.41430T>A (p.Pro13810=) c.31284T>A (p.Pro10428=) | |
| 2 | g.178577892G>A | CA349672038 | TTN,TTN-AS1 | c.60830C>T (p.Pro20277Leu) c.41915C>T (p.Pro13972Leu) c.41714C>T (p.Pro13905Leu) c.41339C>T (p.Pro13780Leu) c.68534C>T (p.Pro22845Leu) c.63611C>T (p.Pro21204Leu) n.596+6443G>A n.2044-4680G>A c.67631C>T (p.Pro22544Leu) c.41525C>T (p.Pro13842Leu) c.41384C>T (p.Pro13795Leu) c.67427C>T (p.Pro22476Leu) c.62825C>T (p.Pro20942Leu) c.62822C>T (p.Pro20941Leu) c.59864C>T (p.Pro19955Leu) c.41480C>T (p.Pro13827Leu) c.62975C>T (p.Pro20992Leu) c.62972C>T (p.Pro20991Leu) c.62405C>T (p.Pro20802Leu) c.59747C>T (p.Pro19916Leu) c.59666C>T (p.Pro19889Leu) c.41429C>T (p.Pro13810Leu) c.31283C>T (p.Pro10428Leu) | |
| 2 | g.178577892G>C | CA349672036 | TTN,TTN-AS1 | c.60830C>G (p.Pro20277Arg) c.41915C>G (p.Pro13972Arg) c.41714C>G (p.Pro13905Arg) c.41339C>G (p.Pro13780Arg) c.68534C>G (p.Pro22845Arg) c.63611C>G (p.Pro21204Arg) n.596+6443G>C n.2044-4680G>C c.67631C>G (p.Pro22544Arg) c.41525C>G (p.Pro13842Arg) c.41384C>G (p.Pro13795Arg) c.67427C>G (p.Pro22476Arg) c.62825C>G (p.Pro20942Arg) c.62822C>G (p.Pro20941Arg) c.59864C>G (p.Pro19955Arg) c.41480C>G (p.Pro13827Arg) c.62975C>G (p.Pro20992Arg) c.62972C>G (p.Pro20991Arg) c.62405C>G (p.Pro20802Arg) c.59747C>G (p.Pro19916Arg) c.59666C>G (p.Pro19889Arg) c.41429C>G (p.Pro13810Arg) c.31283C>G (p.Pro10428Arg) | |
| 2 | g.178577892G>T | CA349672034 | TTN,TTN-AS1 | c.60830C>A (p.Pro20277His) c.41915C>A (p.Pro13972His) c.41714C>A (p.Pro13905His) c.41339C>A (p.Pro13780His) c.68534C>A (p.Pro22845His) c.63611C>A (p.Pro21204His) n.596+6443G>T n.2044-4680G>T c.67631C>A (p.Pro22544His) c.41525C>A (p.Pro13842His) c.41384C>A (p.Pro13795His) c.67427C>A (p.Pro22476His) c.62825C>A (p.Pro20942His) c.62822C>A (p.Pro20941His) c.59864C>A (p.Pro19955His) c.41480C>A (p.Pro13827His) c.62975C>A (p.Pro20992His) c.62972C>A (p.Pro20991His) c.62405C>A (p.Pro20802His) c.59747C>A (p.Pro19916His) c.59666C>A (p.Pro19889His) c.41429C>A (p.Pro13810His) c.31283C>A (p.Pro10428His) | gnomAD v4 |
| 2 | g.178577893G>A | CA349672040 | TTN,TTN-AS1 | c.60829C>T (p.Pro20277Ser) c.41914C>T (p.Pro13972Ser) c.41713C>T (p.Pro13905Ser) c.41338C>T (p.Pro13780Ser) c.68533C>T (p.Pro22845Ser) c.63610C>T (p.Pro21204Ser) n.596+6444G>A n.2044-4679G>A c.67630C>T (p.Pro22544Ser) c.41524C>T (p.Pro13842Ser) c.41383C>T (p.Pro13795Ser) c.67426C>T (p.Pro22476Ser) c.62824C>T (p.Pro20942Ser) c.62821C>T (p.Pro20941Ser) c.59863C>T (p.Pro19955Ser) c.41479C>T (p.Pro13827Ser) c.62974C>T (p.Pro20992Ser) c.62971C>T (p.Pro20991Ser) c.62404C>T (p.Pro20802Ser) c.59746C>T (p.Pro19916Ser) c.59665C>T (p.Pro19889Ser) c.41428C>T (p.Pro13810Ser) c.31282C>T (p.Pro10428Ser) | |
| 2 | g.178577893G>C | CA349672041 | TTN,TTN-AS1 | c.60829C>G (p.Pro20277Ala) c.41914C>G (p.Pro13972Ala) c.41713C>G (p.Pro13905Ala) c.41338C>G (p.Pro13780Ala) c.68533C>G (p.Pro22845Ala) c.63610C>G (p.Pro21204Ala) n.596+6444G>C n.2044-4679G>C c.67630C>G (p.Pro22544Ala) c.41524C>G (p.Pro13842Ala) c.41383C>G (p.Pro13795Ala) c.67426C>G (p.Pro22476Ala) c.62824C>G (p.Pro20942Ala) c.62821C>G (p.Pro20941Ala) c.59863C>G (p.Pro19955Ala) c.41479C>G (p.Pro13827Ala) c.62974C>G (p.Pro20992Ala) c.62971C>G (p.Pro20991Ala) c.62404C>G (p.Pro20802Ala) c.59746C>G (p.Pro19916Ala) c.59665C>G (p.Pro19889Ala) c.41428C>G (p.Pro13810Ala) c.31282C>G (p.Pro10428Ala) | |
| 2 | g.178577893G>T | CA349672042 | TTN,TTN-AS1 | c.60829C>A (p.Pro20277Thr) c.41914C>A (p.Pro13972Thr) c.41713C>A (p.Pro13905Thr) c.41338C>A (p.Pro13780Thr) c.68533C>A (p.Pro22845Thr) c.63610C>A (p.Pro21204Thr) n.596+6444G>T n.2044-4679G>T c.67630C>A (p.Pro22544Thr) c.41524C>A (p.Pro13842Thr) c.41383C>A (p.Pro13795Thr) c.67426C>A (p.Pro22476Thr) c.62824C>A (p.Pro20942Thr) c.62821C>A (p.Pro20941Thr) c.59863C>A (p.Pro19955Thr) c.41479C>A (p.Pro13827Thr) c.62974C>A (p.Pro20992Thr) c.62971C>A (p.Pro20991Thr) c.62404C>A (p.Pro20802Thr) c.59746C>A (p.Pro19916Thr) c.59665C>A (p.Pro19889Thr) c.41428C>A (p.Pro13810Thr) c.31282C>A (p.Pro10428Thr) | |
| 2 | g.178577894A>C | CA430259588 | TTN,TTN-AS1 | c.60828T>G (p.Pro20276=) c.41913T>G (p.Pro13971=) c.41712T>G (p.Pro13904=) c.41337T>G (p.Pro13779=) c.68532T>G (p.Pro22844=) c.63609T>G (p.Pro21203=) n.596+6445A>C n.2044-4678A>C c.67629T>G (p.Pro22543=) c.41523T>G (p.Pro13841=) c.41382T>G (p.Pro13794=) c.67425T>G (p.Pro22475=) c.62823T>G (p.Pro20941=) c.62820T>G (p.Pro20940=) c.59862T>G (p.Pro19954=) c.41478T>G (p.Pro13826=) c.62973T>G (p.Pro20991=) c.62970T>G (p.Pro20990=) c.62403T>G (p.Pro20801=) c.59745T>G (p.Pro19915=) c.59664T>G (p.Pro19888=) c.41427T>G (p.Pro13809=) c.31281T>G (p.Pro10427=) | |
| 2 | g.178577894A>G | CA430259586 | TTN,TTN-AS1 | c.60828T>C (p.Pro20276=) c.41913T>C (p.Pro13971=) c.41712T>C (p.Pro13904=) c.41337T>C (p.Pro13779=) c.68532T>C (p.Pro22844=) c.63609T>C (p.Pro21203=) n.596+6445A>G n.2044-4678A>G c.67629T>C (p.Pro22543=) c.41523T>C (p.Pro13841=) c.41382T>C (p.Pro13794=) c.67425T>C (p.Pro22475=) c.62823T>C (p.Pro20941=) c.62820T>C (p.Pro20940=) c.59862T>C (p.Pro19954=) c.41478T>C (p.Pro13826=) c.62973T>C (p.Pro20991=) c.62970T>C (p.Pro20990=) c.62403T>C (p.Pro20801=) c.59745T>C (p.Pro19915=) c.59664T>C (p.Pro19888=) c.41427T>C (p.Pro13809=) c.31281T>C (p.Pro10427=) | |
| 2 | g.178577894A>T | CA430259587 | TTN,TTN-AS1 | c.60828T>A (p.Pro20276=) c.41913T>A (p.Pro13971=) c.41712T>A (p.Pro13904=) c.41337T>A (p.Pro13779=) c.68532T>A (p.Pro22844=) c.63609T>A (p.Pro21203=) n.596+6445A>T n.2044-4678A>T c.67629T>A (p.Pro22543=) c.41523T>A (p.Pro13841=) c.41382T>A (p.Pro13794=) c.67425T>A (p.Pro22475=) c.62823T>A (p.Pro20941=) c.62820T>A (p.Pro20940=) c.59862T>A (p.Pro19954=) c.41478T>A (p.Pro13826=) c.62973T>A (p.Pro20991=) c.62970T>A (p.Pro20990=) c.62403T>A (p.Pro20801=) c.59745T>A (p.Pro19915=) c.59664T>A (p.Pro19888=) c.41427T>A (p.Pro13809=) c.31281T>A (p.Pro10427=) | |
| 2 | g.178577895G>A | CA349672045 | TTN,TTN-AS1 | c.60827C>T (p.Pro20276Leu) c.41912C>T (p.Pro13971Leu) c.41711C>T (p.Pro13904Leu) c.41336C>T (p.Pro13779Leu) c.68531C>T (p.Pro22844Leu) c.63608C>T (p.Pro21203Leu) n.596+6446G>A n.2044-4677G>A c.67628C>T (p.Pro22543Leu) c.41522C>T (p.Pro13841Leu) c.41381C>T (p.Pro13794Leu) c.67424C>T (p.Pro22475Leu) c.62822C>T (p.Pro20941Leu) c.62819C>T (p.Pro20940Leu) c.59861C>T (p.Pro19954Leu) c.41477C>T (p.Pro13826Leu) c.62972C>T (p.Pro20991Leu) c.62969C>T (p.Pro20990Leu) c.62402C>T (p.Pro20801Leu) c.59744C>T (p.Pro19915Leu) c.59663C>T (p.Pro19888Leu) c.41426C>T (p.Pro13809Leu) c.31280C>T (p.Pro10427Leu) | |
| 2 | g.178577895G>C | CA349672048 | TTN,TTN-AS1 | c.60827C>G (p.Pro20276Arg) c.41912C>G (p.Pro13971Arg) c.41711C>G (p.Pro13904Arg) c.41336C>G (p.Pro13779Arg) c.68531C>G (p.Pro22844Arg) c.63608C>G (p.Pro21203Arg) n.596+6446G>C n.2044-4677G>C c.67628C>G (p.Pro22543Arg) c.41522C>G (p.Pro13841Arg) c.41381C>G (p.Pro13794Arg) c.67424C>G (p.Pro22475Arg) c.62822C>G (p.Pro20941Arg) c.62819C>G (p.Pro20940Arg) c.59861C>G (p.Pro19954Arg) c.41477C>G (p.Pro13826Arg) c.62972C>G (p.Pro20991Arg) c.62969C>G (p.Pro20990Arg) c.62402C>G (p.Pro20801Arg) c.59744C>G (p.Pro19915Arg) c.59663C>G (p.Pro19888Arg) c.41426C>G (p.Pro13809Arg) c.31280C>G (p.Pro10427Arg) | |
| 2 | g.178577895G>T | CA349672050 | TTN,TTN-AS1 | c.60827C>A (p.Pro20276His) c.41912C>A (p.Pro13971His) c.41711C>A (p.Pro13904His) c.41336C>A (p.Pro13779His) c.68531C>A (p.Pro22844His) c.63608C>A (p.Pro21203His) n.596+6446G>T n.2044-4677G>T c.67628C>A (p.Pro22543His) c.41522C>A (p.Pro13841His) c.41381C>A (p.Pro13794His) c.67424C>A (p.Pro22475His) c.62822C>A (p.Pro20941His) c.62819C>A (p.Pro20940His) c.59861C>A (p.Pro19954His) c.41477C>A (p.Pro13826His) c.62972C>A (p.Pro20991His) c.62969C>A (p.Pro20990His) c.62402C>A (p.Pro20801His) c.59744C>A (p.Pro19915His) c.59663C>A (p.Pro19888His) c.41426C>A (p.Pro13809His) c.31280C>A (p.Pro10427His) | |
| 2 | g.178577896G>A | CA349672053 | TTN,TTN-AS1 | c.60826C>T (p.Pro20276Ser) c.41911C>T (p.Pro13971Ser) c.41710C>T (p.Pro13904Ser) c.41335C>T (p.Pro13779Ser) c.68530C>T (p.Pro22844Ser) c.63607C>T (p.Pro21203Ser) n.596+6447G>A n.2044-4676G>A c.67627C>T (p.Pro22543Ser) c.41521C>T (p.Pro13841Ser) c.41380C>T (p.Pro13794Ser) c.67423C>T (p.Pro22475Ser) c.62821C>T (p.Pro20941Ser) c.62818C>T (p.Pro20940Ser) c.59860C>T (p.Pro19954Ser) c.41476C>T (p.Pro13826Ser) c.62971C>T (p.Pro20991Ser) c.62968C>T (p.Pro20990Ser) c.62401C>T (p.Pro20801Ser) c.59743C>T (p.Pro19915Ser) c.59662C>T (p.Pro19888Ser) c.41425C>T (p.Pro13809Ser) c.31279C>T (p.Pro10427Ser) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178577896G>C | CA349672055 | TTN,TTN-AS1 | c.60826C>G (p.Pro20276Ala) c.41911C>G (p.Pro13971Ala) c.41710C>G (p.Pro13904Ala) c.41335C>G (p.Pro13779Ala) c.68530C>G (p.Pro22844Ala) c.63607C>G (p.Pro21203Ala) n.596+6447G>C n.2044-4676G>C c.67627C>G (p.Pro22543Ala) c.41521C>G (p.Pro13841Ala) c.41380C>G (p.Pro13794Ala) c.67423C>G (p.Pro22475Ala) c.62821C>G (p.Pro20941Ala) c.62818C>G (p.Pro20940Ala) c.59860C>G (p.Pro19954Ala) c.41476C>G (p.Pro13826Ala) c.62971C>G (p.Pro20991Ala) c.62968C>G (p.Pro20990Ala) c.62401C>G (p.Pro20801Ala) c.59743C>G (p.Pro19915Ala) c.59662C>G (p.Pro19888Ala) c.41425C>G (p.Pro13809Ala) c.31279C>G (p.Pro10427Ala) | |
| 2 | g.178577896G>T | CA349672057 | TTN,TTN-AS1 | c.60826C>A (p.Pro20276Thr) c.41911C>A (p.Pro13971Thr) c.41710C>A (p.Pro13904Thr) c.41335C>A (p.Pro13779Thr) c.68530C>A (p.Pro22844Thr) c.63607C>A (p.Pro21203Thr) n.596+6447G>T n.2044-4676G>T c.67627C>A (p.Pro22543Thr) c.41521C>A (p.Pro13841Thr) c.41380C>A (p.Pro13794Thr) c.67423C>A (p.Pro22475Thr) c.62821C>A (p.Pro20941Thr) c.62818C>A (p.Pro20940Thr) c.59860C>A (p.Pro19954Thr) c.41476C>A (p.Pro13826Thr) c.62971C>A (p.Pro20991Thr) c.62968C>A (p.Pro20990Thr) c.62401C>A (p.Pro20801Thr) c.59743C>A (p.Pro19915Thr) c.59662C>A (p.Pro19888Thr) c.41425C>A (p.Pro13809Thr) c.31279C>A (p.Pro10427Thr) | gnomAD v4 |
| 2 | g.178577897del | CA2586965301 | TTN,TTN-AS1 | c.60825del (p.Pro20276LeufsTer10) c.41910del (p.Pro13971LeufsTer10) c.41709del (p.Pro13904LeufsTer10) c.41334del (p.Pro13779LeufsTer10) c.68529del (p.Pro22844LeufsTer10) c.63606del (p.Pro21203LeufsTer10) n.596+6448del n.2044-4675del c.67626del (p.Pro22543LeufsTer10) c.41520del (p.Pro13841LeufsTer10) c.41379del (p.Pro13794LeufsTer10) c.67422del (p.Pro22475LeufsTer10) c.62820del (p.Pro20941LeufsTer10) c.62817del (p.Pro20940LeufsTer10) c.59859del (p.Pro19954LeufsTer10) c.41475del (p.Pro13826LeufsTer10) c.62970del (p.Pro20991LeufsTer10) c.62967del (p.Pro20990LeufsTer10) c.62400del (p.Pro20801LeufsTer10) c.59742del (p.Pro19915LeufsTer10) c.59661del (p.Pro19888LeufsTer10) c.41424del (p.Pro13809LeufsTer10) c.31278del (p.Pro10427LeufsTer10) | |
| 2 | g.178577897A>C | CA349672059 | TTN,TTN-AS1 | c.60825T>G (p.Asp20275Glu) c.41910T>G (p.Asp13970Glu) c.41709T>G (p.Asp13903Glu) c.41334T>G (p.Asp13778Glu) c.68529T>G (p.Asp22843Glu) c.63606T>G (p.Asp21202Glu) n.596+6448A>C n.2044-4675A>C c.67626T>G (p.Asp22542Glu) c.41520T>G (p.Asp13840Glu) c.41379T>G (p.Asp13793Glu) c.67422T>G (p.Asp22474Glu) c.62820T>G (p.Asp20940Glu) c.62817T>G (p.Asp20939Glu) c.59859T>G (p.Asp19953Glu) c.41475T>G (p.Asp13825Glu) c.62970T>G (p.Asp20990Glu) c.62967T>G (p.Asp20989Glu) c.62400T>G (p.Asp20800Glu) c.59742T>G (p.Asp19914Glu) c.59661T>G (p.Asp19887Glu) c.41424T>G (p.Asp13808Glu) c.31278T>G (p.Asp10426Glu) | |
| 2 | g.178577897A>G | CA430259594 | TTN,TTN-AS1 | c.60825T>C (p.Asp20275=) c.41910T>C (p.Asp13970=) c.41709T>C (p.Asp13903=) c.41334T>C (p.Asp13778=) c.68529T>C (p.Asp22843=) c.63606T>C (p.Asp21202=) n.596+6448A>G n.2044-4675A>G c.67626T>C (p.Asp22542=) c.41520T>C (p.Asp13840=) c.41379T>C (p.Asp13793=) c.67422T>C (p.Asp22474=) c.62820T>C (p.Asp20940=) c.62817T>C (p.Asp20939=) c.59859T>C (p.Asp19953=) c.41475T>C (p.Asp13825=) c.62970T>C (p.Asp20990=) c.62967T>C (p.Asp20989=) c.62400T>C (p.Asp20800=) c.59742T>C (p.Asp19914=) c.59661T>C (p.Asp19887=) c.41424T>C (p.Asp13808=) c.31278T>C (p.Asp10426=) | |
| 2 | g.178577897A>T | CA349672061 | TTN,TTN-AS1 | c.60825T>A (p.Asp20275Glu) c.41910T>A (p.Asp13970Glu) c.41709T>A (p.Asp13903Glu) c.41334T>A (p.Asp13778Glu) c.68529T>A (p.Asp22843Glu) c.63606T>A (p.Asp21202Glu) n.596+6448A>T n.2044-4675A>T c.67626T>A (p.Asp22542Glu) c.41520T>A (p.Asp13840Glu) c.41379T>A (p.Asp13793Glu) c.67422T>A (p.Asp22474Glu) c.62820T>A (p.Asp20940Glu) c.62817T>A (p.Asp20939Glu) c.59859T>A (p.Asp19953Glu) c.41475T>A (p.Asp13825Glu) c.62970T>A (p.Asp20990Glu) c.62967T>A (p.Asp20989Glu) c.62400T>A (p.Asp20800Glu) c.59742T>A (p.Asp19914Glu) c.59661T>A (p.Asp19887Glu) c.41424T>A (p.Asp13808Glu) c.31278T>A (p.Asp10426Glu) | |
| 2 | g.178577897_178577904del | CA2573320281 | TTN,TTN-AS1 | c.60824-6_60825del c.41909-6_41910del c.41708-6_41709del c.41333-6_41334del c.68528-6_68529del c.63605-6_63606del n.596+6448_596+6455del n.2044-4675_2044-4668del c.67625-6_67626del c.41519-6_41520del c.41378-6_41379del c.67421-6_67422del c.62819-6_62820del c.62816-6_62817del c.59858-6_59859del c.41474-6_41475del c.62969-6_62970del c.62966-6_62967del c.62399-6_62400del c.59741-6_59742del c.59660-6_59661del c.41423-6_41424del c.31277-6_31278del | |
| 2 | g.178577898T>A | CA349672067 | TTN,TTN-AS1 | c.60824A>T (p.Asp20275Val) c.41909A>T (p.Asp13970Val) c.41708A>T (p.Asp13903Val) c.41333A>T (p.Asp13778Val) c.68528A>T (p.Asp22843Val) c.63605A>T (p.Asp21202Val) n.596+6449T>A n.2044-4674T>A c.67625A>T (p.Asp22542Val) c.41519A>T (p.Asp13840Val) c.41378A>T (p.Asp13793Val) c.67421A>T (p.Asp22474Val) c.62819A>T (p.Asp20940Val) c.62816A>T (p.Asp20939Val) c.59858A>T (p.Asp19953Val) c.41474A>T (p.Asp13825Val) c.62969A>T (p.Asp20990Val) c.62966A>T (p.Asp20989Val) c.62399A>T (p.Asp20800Val) c.59741A>T (p.Asp19914Val) c.59660A>T (p.Asp19887Val) c.41423A>T (p.Asp13808Val) c.31277A>T (p.Asp10426Val) | |
| 2 | g.178577898T>C | CA349672069 | TTN,TTN-AS1 | c.60824A>G (p.Asp20275Gly) c.41909A>G (p.Asp13970Gly) c.41708A>G (p.Asp13903Gly) c.41333A>G (p.Asp13778Gly) c.68528A>G (p.Asp22843Gly) c.63605A>G (p.Asp21202Gly) n.596+6449T>C n.2044-4674T>C c.67625A>G (p.Asp22542Gly) c.41519A>G (p.Asp13840Gly) c.41378A>G (p.Asp13793Gly) c.67421A>G (p.Asp22474Gly) c.62819A>G (p.Asp20940Gly) c.62816A>G (p.Asp20939Gly) c.59858A>G (p.Asp19953Gly) c.41474A>G (p.Asp13825Gly) c.62969A>G (p.Asp20990Gly) c.62966A>G (p.Asp20989Gly) c.62399A>G (p.Asp20800Gly) c.59741A>G (p.Asp19914Gly) c.59660A>G (p.Asp19887Gly) c.41423A>G (p.Asp13808Gly) c.31277A>G (p.Asp10426Gly) | |
| 2 | g.178577898T>G | CA349672070 | TTN,TTN-AS1 | c.60824A>C (p.Asp20275Ala) c.41909A>C (p.Asp13970Ala) c.41708A>C (p.Asp13903Ala) c.41333A>C (p.Asp13778Ala) c.68528A>C (p.Asp22843Ala) c.63605A>C (p.Asp21202Ala) n.596+6449T>G n.2044-4674T>G c.67625A>C (p.Asp22542Ala) c.41519A>C (p.Asp13840Ala) c.41378A>C (p.Asp13793Ala) c.67421A>C (p.Asp22474Ala) c.62819A>C (p.Asp20940Ala) c.62816A>C (p.Asp20939Ala) c.59858A>C (p.Asp19953Ala) c.41474A>C (p.Asp13825Ala) c.62969A>C (p.Asp20990Ala) c.62966A>C (p.Asp20989Ala) c.62399A>C (p.Asp20800Ala) c.59741A>C (p.Asp19914Ala) c.59660A>C (p.Asp19887Ala) c.41423A>C (p.Asp13808Ala) c.31277A>C (p.Asp10426Ala) | |
| 2 | g.178577899C>A | CA349672074 | TTN,TTN-AS1 | c.60824-1G>T (n.60824-1G>T) c.41909-1G>T (n.41909-1G>T) c.41708-1G>T (n.41708-1G>T) c.41333-1G>T (n.41333-1G>T) c.68528-1G>T (n.68528-1G>T) c.63605-1G>T (n.63605-1G>T) n.596+6450C>A n.2044-4673C>A c.67625-1G>T (n.67625-1G>T) c.41519-1G>T (n.41519-1G>T) c.41378-1G>T (n.41378-1G>T) c.67421-1G>T (n.67421-1G>T) c.62819-1G>T (n.62819-1G>T) c.62816-1G>T (n.62816-1G>T) c.59858-1G>T (n.59858-1G>T) c.41474-1G>T (n.41474-1G>T) c.62969-1G>T (n.62969-1G>T) c.62966-1G>T (n.62966-1G>T) c.62399-1G>T (n.62399-1G>T) c.59741-1G>T (n.59741-1G>T) c.59660-1G>T (n.59660-1G>T) c.41423-1G>T (n.41423-1G>T) c.31277-1G>T (n.31277-1G>T) | ClinVar gnomAD v4 |
| 2 | g.178577899C>G | CA349672076 | TTN,TTN-AS1 | c.60824-1G>C (n.60824-1G>C) c.41909-1G>C (n.41909-1G>C) c.41708-1G>C (n.41708-1G>C) c.41333-1G>C (n.41333-1G>C) c.68528-1G>C (n.68528-1G>C) c.63605-1G>C (n.63605-1G>C) n.596+6450C>G n.2044-4673C>G c.67625-1G>C (n.67625-1G>C) c.41519-1G>C (n.41519-1G>C) c.41378-1G>C (n.41378-1G>C) c.67421-1G>C (n.67421-1G>C) c.62819-1G>C (n.62819-1G>C) c.62816-1G>C (n.62816-1G>C) c.59858-1G>C (n.59858-1G>C) c.41474-1G>C (n.41474-1G>C) c.62969-1G>C (n.62969-1G>C) c.62966-1G>C (n.62966-1G>C) c.62399-1G>C (n.62399-1G>C) c.59741-1G>C (n.59741-1G>C) c.59660-1G>C (n.59660-1G>C) c.41423-1G>C (n.41423-1G>C) c.31277-1G>C (n.31277-1G>C) | |
| 2 | g.178577899C>T | CA349672072 | TTN,TTN-AS1 | c.60824-1G>A (n.60824-1G>A) c.41909-1G>A (n.41909-1G>A) c.41708-1G>A (n.41708-1G>A) c.41333-1G>A (n.41333-1G>A) c.68528-1G>A (n.68528-1G>A) c.63605-1G>A (n.63605-1G>A) n.596+6450C>T n.2044-4673C>T c.67625-1G>A (n.67625-1G>A) c.41519-1G>A (n.41519-1G>A) c.41378-1G>A (n.41378-1G>A) c.67421-1G>A (n.67421-1G>A) c.62819-1G>A (n.62819-1G>A) c.62816-1G>A (n.62816-1G>A) c.59858-1G>A (n.59858-1G>A) c.41474-1G>A (n.41474-1G>A) c.62969-1G>A (n.62969-1G>A) c.62966-1G>A (n.62966-1G>A) c.62399-1G>A (n.62399-1G>A) c.59741-1G>A (n.59741-1G>A) c.59660-1G>A (n.59660-1G>A) c.41423-1G>A (n.41423-1G>A) c.31277-1G>A (n.31277-1G>A) | |
| 2 | g.178577899_178577906delinsCTAAAACA | CA1310534216 | TTN,TTN-AS1 | c.60824-8_60824-1delinsTGTTTTAG (n.60824-8_60824-1delinsTGTTTTAG) c.41909-8_41909-1delinsTGTTTTAG (n.41909-8_41909-1delinsTGTTTTAG) c.41708-8_41708-1delinsTGTTTTAG (n.41708-8_41708-1delinsTGTTTTAG) c.41333-8_41333-1delinsTGTTTTAG (n.41333-8_41333-1delinsTGTTTTAG) c.68528-8_68528-1delinsTGTTTTAG (n.68528-8_68528-1delinsTGTTTTAG) c.63605-8_63605-1delinsTGTTTTAG (n.63605-8_63605-1delinsTGTTTTAG) n.596+6450_596+6457delinsCTAAAACA n.2044-4673_2044-4666delinsCTAAAACA c.67625-8_67625-1delinsTGTTTTAG (n.67625-8_67625-1delinsTGTTTTAG) c.41519-8_41519-1delinsTGTTTTAG (n.41519-8_41519-1delinsTGTTTTAG) c.41378-8_41378-1delinsTGTTTTAG (n.41378-8_41378-1delinsTGTTTTAG) c.67421-8_67421-1delinsTGTTTTAG (n.67421-8_67421-1delinsTGTTTTAG) c.62819-8_62819-1delinsTGTTTTAG (n.62819-8_62819-1delinsTGTTTTAG) c.62816-8_62816-1delinsTGTTTTAG (n.62816-8_62816-1delinsTGTTTTAG) c.59858-8_59858-1delinsTGTTTTAG (n.59858-8_59858-1delinsTGTTTTAG) c.41474-8_41474-1delinsTGTTTTAG (n.41474-8_41474-1delinsTGTTTTAG) c.62969-8_62969-1delinsTGTTTTAG (n.62969-8_62969-1delinsTGTTTTAG) c.62966-8_62966-1delinsTGTTTTAG (n.62966-8_62966-1delinsTGTTTTAG) c.62399-8_62399-1delinsTGTTTTAG (n.62399-8_62399-1delinsTGTTTTAG) c.59741-8_59741-1delinsTGTTTTAG (n.59741-8_59741-1delinsTGTTTTAG) c.59660-8_59660-1delinsTGTTTTAG (n.59660-8_59660-1delinsTGTTTTAG) c.41423-8_41423-1delinsTGTTTTAG (n.41423-8_41423-1delinsTGTTTTAG) c.31277-8_31277-1delinsTGTTTTAG (n.31277-8_31277-1delinsTGTTTTAG) | |
| 2 | g.178577900T>A | CA1991074 | TTN,TTN-AS1 | c.60824-2A>T (n.60824-2A>T) c.41909-2A>T (n.41909-2A>T) c.41708-2A>T (n.41708-2A>T) c.41333-2A>T (n.41333-2A>T) c.68528-2A>T (n.68528-2A>T) c.63605-2A>T (n.63605-2A>T) n.596+6451T>A n.2044-4672T>A c.67625-2A>T (n.67625-2A>T) c.41519-2A>T (n.41519-2A>T) c.41378-2A>T (n.41378-2A>T) c.67421-2A>T (n.67421-2A>T) c.62819-2A>T (n.62819-2A>T) c.62816-2A>T (n.62816-2A>T) c.59858-2A>T (n.59858-2A>T) c.41474-2A>T (n.41474-2A>T) c.62969-2A>T (n.62969-2A>T) c.62966-2A>T (n.62966-2A>T) c.62399-2A>T (n.62399-2A>T) c.59741-2A>T (n.59741-2A>T) c.59660-2A>T (n.59660-2A>T) c.41423-2A>T (n.41423-2A>T) c.31277-2A>T (n.31277-2A>T) | dbSNP ExAC |
| 2 | g.178577900T>C | CA349672079 | TTN,TTN-AS1 | c.60824-2A>G (n.60824-2A>G) c.41909-2A>G (n.41909-2A>G) c.41708-2A>G (n.41708-2A>G) c.41333-2A>G (n.41333-2A>G) c.68528-2A>G (n.68528-2A>G) c.63605-2A>G (n.63605-2A>G) n.596+6451T>C n.2044-4672T>C c.67625-2A>G (n.67625-2A>G) c.41519-2A>G (n.41519-2A>G) c.41378-2A>G (n.41378-2A>G) c.67421-2A>G (n.67421-2A>G) c.62819-2A>G (n.62819-2A>G) c.62816-2A>G (n.62816-2A>G) c.59858-2A>G (n.59858-2A>G) c.41474-2A>G (n.41474-2A>G) c.62969-2A>G (n.62969-2A>G) c.62966-2A>G (n.62966-2A>G) c.62399-2A>G (n.62399-2A>G) c.59741-2A>G (n.59741-2A>G) c.59660-2A>G (n.59660-2A>G) c.41423-2A>G (n.41423-2A>G) c.31277-2A>G (n.31277-2A>G) | |
| 2 | g.178577900T>G | CA349672081 | TTN,TTN-AS1 | c.60824-2A>C (n.60824-2A>C) c.41909-2A>C (n.41909-2A>C) c.41708-2A>C (n.41708-2A>C) c.41333-2A>C (n.41333-2A>C) c.68528-2A>C (n.68528-2A>C) c.63605-2A>C (n.63605-2A>C) n.596+6451T>G n.2044-4672T>G c.67625-2A>C (n.67625-2A>C) c.41519-2A>C (n.41519-2A>C) c.41378-2A>C (n.41378-2A>C) c.67421-2A>C (n.67421-2A>C) c.62819-2A>C (n.62819-2A>C) c.62816-2A>C (n.62816-2A>C) c.59858-2A>C (n.59858-2A>C) c.41474-2A>C (n.41474-2A>C) c.62969-2A>C (n.62969-2A>C) c.62966-2A>C (n.62966-2A>C) c.62399-2A>C (n.62399-2A>C) c.59741-2A>C (n.59741-2A>C) c.59660-2A>C (n.59660-2A>C) c.41423-2A>C (n.41423-2A>C) c.31277-2A>C (n.31277-2A>C) | |
| 2 | g.178577900T= | CA1310534217 | TTN,TTN-AS1 | c.60824-2A= (n.60824-2A=) c.41909-2A= (n.41909-2A=) c.41708-2A= (n.41708-2A=) c.41333-2A= (n.41333-2A=) c.68528-2A= (n.68528-2A=) c.63605-2A= (n.63605-2A=) n.596+6451T= n.2044-4672T= c.67625-2A= (n.67625-2A=) c.41519-2A= (n.41519-2A=) c.41378-2A= (n.41378-2A=) c.67421-2A= (n.67421-2A=) c.62819-2A= (n.62819-2A=) c.62816-2A= (n.62816-2A=) c.59858-2A= (n.59858-2A=) c.41474-2A= (n.41474-2A=) c.62969-2A= (n.62969-2A=) c.62966-2A= (n.62966-2A=) c.62399-2A= (n.62399-2A=) c.59741-2A= (n.59741-2A=) c.59660-2A= (n.59660-2A=) c.41423-2A= (n.41423-2A=) c.31277-2A= (n.31277-2A=) | |
| 2 | g.178577905_178577911del | CA538435371 | TTN,TTN-AS1 | c.60824-8_60824-2del (n.60824-8_60824-2del) c.41909-8_41909-2del (n.41909-8_41909-2del) c.41708-8_41708-2del (n.41708-8_41708-2del) c.41333-8_41333-2del (n.41333-8_41333-2del) c.68528-8_68528-2del (n.68528-8_68528-2del) c.63605-8_63605-2del (n.63605-8_63605-2del) n.596+6456_596+6462del n.2044-4667_2044-4661del c.67625-8_67625-2del (n.67625-8_67625-2del) c.41519-8_41519-2del (n.41519-8_41519-2del) c.41378-8_41378-2del (n.41378-8_41378-2del) c.67421-8_67421-2del (n.67421-8_67421-2del) c.62819-8_62819-2del (n.62819-8_62819-2del) c.62816-8_62816-2del (n.62816-8_62816-2del) c.59858-8_59858-2del (n.59858-8_59858-2del) c.41474-8_41474-2del (n.41474-8_41474-2del) c.62969-8_62969-2del (n.62969-8_62969-2del) c.62966-8_62966-2del (n.62966-8_62966-2del) c.62399-8_62399-2del (n.62399-8_62399-2del) c.59741-8_59741-2del (n.59741-8_59741-2del) c.59660-8_59660-2del (n.59660-8_59660-2del) c.41423-8_41423-2del (n.41423-8_41423-2del) c.31277-8_31277-2del (n.31277-8_31277-2del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178577903A>C | CA2662129279 | TTN,TTN-AS1 | c.60824-5T>G (n.60824-5T>G) c.41909-5T>G (n.41909-5T>G) c.41708-5T>G (n.41708-5T>G) c.41333-5T>G (n.41333-5T>G) c.68528-5T>G (n.68528-5T>G) c.63605-5T>G (n.63605-5T>G) n.596+6454A>C n.2044-4669A>C c.67625-5T>G (n.67625-5T>G) c.41519-5T>G (n.41519-5T>G) c.41378-5T>G (n.41378-5T>G) c.67421-5T>G (n.67421-5T>G) c.62819-5T>G (n.62819-5T>G) c.62816-5T>G (n.62816-5T>G) c.59858-5T>G (n.59858-5T>G) c.41474-5T>G (n.41474-5T>G) c.62969-5T>G (n.62969-5T>G) c.62966-5T>G (n.62966-5T>G) c.62399-5T>G (n.62399-5T>G) c.59741-5T>G (n.59741-5T>G) c.59660-5T>G (n.59660-5T>G) c.41423-5T>G (n.41423-5T>G) c.31277-5T>G (n.31277-5T>G) | gnomAD v4 |
| 2 | g.178577904_178577906del | CA2545774122 | TTN,TTN-AS1 | c.60824-7_60824-5del (n.60824-7_60824-5del) c.41909-7_41909-5del (n.41909-7_41909-5del) c.41708-7_41708-5del (n.41708-7_41708-5del) c.41333-7_41333-5del (n.41333-7_41333-5del) c.68528-7_68528-5del (n.68528-7_68528-5del) c.63605-7_63605-5del (n.63605-7_63605-5del) n.596+6455_596+6457del n.2044-4668_2044-4666del c.67625-7_67625-5del (n.67625-7_67625-5del) c.41519-7_41519-5del (n.41519-7_41519-5del) c.41378-7_41378-5del (n.41378-7_41378-5del) c.67421-7_67421-5del (n.67421-7_67421-5del) c.62819-7_62819-5del (n.62819-7_62819-5del) c.62816-7_62816-5del (n.62816-7_62816-5del) c.59858-7_59858-5del (n.59858-7_59858-5del) c.41474-7_41474-5del (n.41474-7_41474-5del) c.62969-7_62969-5del (n.62969-7_62969-5del) c.62966-7_62966-5del (n.62966-7_62966-5del) c.62399-7_62399-5del (n.62399-7_62399-5del) c.59741-7_59741-5del (n.59741-7_59741-5del) c.59660-7_59660-5del (n.59660-7_59660-5del) c.41423-7_41423-5del (n.41423-7_41423-5del) c.31277-7_31277-5del (n.31277-7_31277-5del) | |
| 2 | g.178577904A>G | CA2662129280 | TTN,TTN-AS1 | c.60824-6T>C (n.60824-6T>C) c.41909-6T>C (n.41909-6T>C) c.41708-6T>C (n.41708-6T>C) c.41333-6T>C (n.41333-6T>C) c.68528-6T>C (n.68528-6T>C) c.63605-6T>C (n.63605-6T>C) n.596+6455A>G n.2044-4668A>G c.67625-6T>C (n.67625-6T>C) c.41519-6T>C (n.41519-6T>C) c.41378-6T>C (n.41378-6T>C) c.67421-6T>C (n.67421-6T>C) c.62819-6T>C (n.62819-6T>C) c.62816-6T>C (n.62816-6T>C) c.59858-6T>C (n.59858-6T>C) c.41474-6T>C (n.41474-6T>C) c.62969-6T>C (n.62969-6T>C) c.62966-6T>C (n.62966-6T>C) c.62399-6T>C (n.62399-6T>C) c.59741-6T>C (n.59741-6T>C) c.59660-6T>C (n.59660-6T>C) c.41423-6T>C (n.41423-6T>C) c.31277-6T>C (n.31277-6T>C) | gnomAD v4 |
| 2 | g.178577905C= | CA1310534219 | TTN,TTN-AS1 | c.60824-7G= (n.60824-7G=) c.41909-7G= (n.41909-7G=) c.41708-7G= (n.41708-7G=) c.41333-7G= (n.41333-7G=) c.68528-7G= (n.68528-7G=) c.63605-7G= (n.63605-7G=) n.596+6456C= n.2044-4667C= c.67625-7G= (n.67625-7G=) c.41519-7G= (n.41519-7G=) c.41378-7G= (n.41378-7G=) c.67421-7G= (n.67421-7G=) c.62819-7G= (n.62819-7G=) c.62816-7G= (n.62816-7G=) c.59858-7G= (n.59858-7G=) c.41474-7G= (n.41474-7G=) c.62969-7G= (n.62969-7G=) c.62966-7G= (n.62966-7G=) c.62399-7G= (n.62399-7G=) c.59741-7G= (n.59741-7G=) c.59660-7G= (n.59660-7G=) c.41423-7G= (n.41423-7G=) c.31277-7G= (n.31277-7G=) | |
| 2 | g.178577905C>T | CA1310534220 | TTN,TTN-AS1 | c.60824-7G>A (n.60824-7G>A) c.41909-7G>A (n.41909-7G>A) c.41708-7G>A (n.41708-7G>A) c.41333-7G>A (n.41333-7G>A) c.68528-7G>A (n.68528-7G>A) c.63605-7G>A (n.63605-7G>A) n.596+6456C>T n.2044-4667C>T c.67625-7G>A (n.67625-7G>A) c.41519-7G>A (n.41519-7G>A) c.41378-7G>A (n.41378-7G>A) c.67421-7G>A (n.67421-7G>A) c.62819-7G>A (n.62819-7G>A) c.62816-7G>A (n.62816-7G>A) c.59858-7G>A (n.59858-7G>A) c.41474-7G>A (n.41474-7G>A) c.62969-7G>A (n.62969-7G>A) c.62966-7G>A (n.62966-7G>A) c.62399-7G>A (n.62399-7G>A) c.59741-7G>A (n.59741-7G>A) c.59660-7G>A (n.59660-7G>A) c.41423-7G>A (n.41423-7G>A) c.31277-7G>A (n.31277-7G>A) | dbSNP |
| 2 | g.178577905_178577907delinsCAT | CA1310534218 | TTN,TTN-AS1 | c.60824-9_60824-7delinsATG (n.60824-9_60824-7delinsATG) c.41909-9_41909-7delinsATG (n.41909-9_41909-7delinsATG) c.41708-9_41708-7delinsATG (n.41708-9_41708-7delinsATG) c.41333-9_41333-7delinsATG (n.41333-9_41333-7delinsATG) c.68528-9_68528-7delinsATG (n.68528-9_68528-7delinsATG) c.63605-9_63605-7delinsATG (n.63605-9_63605-7delinsATG) n.596+6456_596+6458delinsCAT n.2044-4667_2044-4665delinsCAT c.67625-9_67625-7delinsATG (n.67625-9_67625-7delinsATG) c.41519-9_41519-7delinsATG (n.41519-9_41519-7delinsATG) c.41378-9_41378-7delinsATG (n.41378-9_41378-7delinsATG) c.67421-9_67421-7delinsATG (n.67421-9_67421-7delinsATG) c.62819-9_62819-7delinsATG (n.62819-9_62819-7delinsATG) c.62816-9_62816-7delinsATG (n.62816-9_62816-7delinsATG) c.59858-9_59858-7delinsATG (n.59858-9_59858-7delinsATG) c.41474-9_41474-7delinsATG (n.41474-9_41474-7delinsATG) c.62969-9_62969-7delinsATG (n.62969-9_62969-7delinsATG) c.62966-9_62966-7delinsATG (n.62966-9_62966-7delinsATG) c.62399-9_62399-7delinsATG (n.62399-9_62399-7delinsATG) c.59741-9_59741-7delinsATG (n.59741-9_59741-7delinsATG) c.59660-9_59660-7delinsATG (n.59660-9_59660-7delinsATG) c.41423-9_41423-7delinsATG (n.41423-9_41423-7delinsATG) c.31277-9_31277-7delinsATG (n.31277-9_31277-7delinsATG) | |
| 2 | g.178577906A= | CA1310534221 | TTN,TTN-AS1 | c.60824-8T= (n.60824-8T=) c.41909-8T= (n.41909-8T=) c.41708-8T= (n.41708-8T=) c.41333-8T= (n.41333-8T=) c.68528-8T= (n.68528-8T=) c.63605-8T= (n.63605-8T=) n.596+6457A= n.2044-4666A= c.67625-8T= (n.67625-8T=) c.41519-8T= (n.41519-8T=) c.41378-8T= (n.41378-8T=) c.67421-8T= (n.67421-8T=) c.62819-8T= (n.62819-8T=) c.62816-8T= (n.62816-8T=) c.59858-8T= (n.59858-8T=) c.41474-8T= (n.41474-8T=) c.62969-8T= (n.62969-8T=) c.62966-8T= (n.62966-8T=) c.62399-8T= (n.62399-8T=) c.59741-8T= (n.59741-8T=) c.59660-8T= (n.59660-8T=) c.41423-8T= (n.41423-8T=) c.31277-8T= (n.31277-8T=) | |
| 2 | g.178577906A>G | CA1991076 | TTN,TTN-AS1 | c.60824-8T>C (n.60824-8T>C) c.41909-8T>C (n.41909-8T>C) c.41708-8T>C (n.41708-8T>C) c.41333-8T>C (n.41333-8T>C) c.68528-8T>C (n.68528-8T>C) c.63605-8T>C (n.63605-8T>C) n.596+6457A>G n.2044-4666A>G c.67625-8T>C (n.67625-8T>C) c.41519-8T>C (n.41519-8T>C) c.41378-8T>C (n.41378-8T>C) c.67421-8T>C (n.67421-8T>C) c.62819-8T>C (n.62819-8T>C) c.62816-8T>C (n.62816-8T>C) c.59858-8T>C (n.59858-8T>C) c.41474-8T>C (n.41474-8T>C) c.62969-8T>C (n.62969-8T>C) c.62966-8T>C (n.62966-8T>C) c.62399-8T>C (n.62399-8T>C) c.59741-8T>C (n.59741-8T>C) c.59660-8T>C (n.59660-8T>C) c.41423-8T>C (n.41423-8T>C) c.31277-8T>C (n.31277-8T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178577907_178577908del | CA1991075 | TTN,TTN-AS1 | c.60824-9_60824-8del (n.60824-9_60824-8del) c.41909-9_41909-8del (n.41909-9_41909-8del) c.41708-9_41708-8del (n.41708-9_41708-8del) c.41333-9_41333-8del (n.41333-9_41333-8del) c.68528-9_68528-8del (n.68528-9_68528-8del) c.63605-9_63605-8del (n.63605-9_63605-8del) n.596+6458_596+6459del n.2044-4665_2044-4664del c.67625-9_67625-8del (n.67625-9_67625-8del) c.41519-9_41519-8del (n.41519-9_41519-8del) c.41378-9_41378-8del (n.41378-9_41378-8del) c.67421-9_67421-8del (n.67421-9_67421-8del) c.62819-9_62819-8del (n.62819-9_62819-8del) c.62816-9_62816-8del (n.62816-9_62816-8del) c.59858-9_59858-8del (n.59858-9_59858-8del) c.41474-9_41474-8del (n.41474-9_41474-8del) c.62969-9_62969-8del (n.62969-9_62969-8del) c.62966-9_62966-8del (n.62966-9_62966-8del) c.62399-9_62399-8del (n.62399-9_62399-8del) c.59741-9_59741-8del (n.59741-9_59741-8del) c.59660-9_59660-8del (n.59660-9_59660-8del) c.41423-9_41423-8del (n.41423-9_41423-8del) c.31277-9_31277-8del (n.31277-9_31277-8del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178577907T>A | CA1991077 | TTN,TTN-AS1 | c.60824-9A>T (n.60824-9A>T) c.41909-9A>T (n.41909-9A>T) c.41708-9A>T (n.41708-9A>T) c.41333-9A>T (n.41333-9A>T) c.68528-9A>T (n.68528-9A>T) c.63605-9A>T (n.63605-9A>T) n.596+6458T>A n.2044-4665T>A c.67625-9A>T (n.67625-9A>T) c.41519-9A>T (n.41519-9A>T) c.41378-9A>T (n.41378-9A>T) c.67421-9A>T (n.67421-9A>T) c.62819-9A>T (n.62819-9A>T) c.62816-9A>T (n.62816-9A>T) c.59858-9A>T (n.59858-9A>T) c.41474-9A>T (n.41474-9A>T) c.62969-9A>T (n.62969-9A>T) c.62966-9A>T (n.62966-9A>T) c.62399-9A>T (n.62399-9A>T) c.59741-9A>T (n.59741-9A>T) c.59660-9A>T (n.59660-9A>T) c.41423-9A>T (n.41423-9A>T) c.31277-9A>T (n.31277-9A>T) | dbSNP ExAC |
| 2 | g.178577907T= | CA1310534222 | TTN,TTN-AS1 | c.60824-9A= (n.60824-9A=) c.41909-9A= (n.41909-9A=) c.41708-9A= (n.41708-9A=) c.41333-9A= (n.41333-9A=) c.68528-9A= (n.68528-9A=) c.63605-9A= (n.63605-9A=) n.596+6458T= n.2044-4665T= c.67625-9A= (n.67625-9A=) c.41519-9A= (n.41519-9A=) c.41378-9A= (n.41378-9A=) c.67421-9A= (n.67421-9A=) c.62819-9A= (n.62819-9A=) c.62816-9A= (n.62816-9A=) c.59858-9A= (n.59858-9A=) c.41474-9A= (n.41474-9A=) c.62969-9A= (n.62969-9A=) c.62966-9A= (n.62966-9A=) c.62399-9A= (n.62399-9A=) c.59741-9A= (n.59741-9A=) c.59660-9A= (n.59660-9A=) c.41423-9A= (n.41423-9A=) c.31277-9A= (n.31277-9A=) |