| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178615356G>A | CA1994784 | TTN,TTN-AS1 | c.40885C>T (p.Arg13629Cys) c.21970C>T (p.Arg7324Cys) c.21769C>T (p.Arg7257Cys) c.21394C>T (p.Arg7132Cys) c.48589C>T (p.Arg16197Cys) c.43666C>T (p.Arg14556Cys) n.1586G>A c.47686C>T (p.Arg15896Cys) c.21580C>T (p.Arg7194Cys) c.21439C>T (p.Arg7147Cys) c.47482C>T (p.Arg15828Cys) c.42880C>T (p.Arg14294Cys) c.42877C>T (p.Arg14293Cys) c.39919C>T (p.Arg13307Cys) c.21535C>T (p.Arg7179Cys) c.43030C>T (p.Arg14344Cys) c.43027C>T (p.Arg14343Cys) c.42460C>T (p.Arg14154Cys) c.39802C>T (p.Arg13268Cys) c.39721C>T (p.Arg13241Cys) c.21484C>T (p.Arg7162Cys) c.11338C>T (p.Arg3780Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178615356G>C | CA349608944 | TTN,TTN-AS1 | c.40885C>G (p.Arg13629Gly) c.21970C>G (p.Arg7324Gly) c.21769C>G (p.Arg7257Gly) c.21394C>G (p.Arg7132Gly) c.48589C>G (p.Arg16197Gly) c.43666C>G (p.Arg14556Gly) n.1586G>C c.47686C>G (p.Arg15896Gly) c.21580C>G (p.Arg7194Gly) c.21439C>G (p.Arg7147Gly) c.47482C>G (p.Arg15828Gly) c.42880C>G (p.Arg14294Gly) c.42877C>G (p.Arg14293Gly) c.39919C>G (p.Arg13307Gly) c.21535C>G (p.Arg7179Gly) c.43030C>G (p.Arg14344Gly) c.43027C>G (p.Arg14343Gly) c.42460C>G (p.Arg14154Gly) c.39802C>G (p.Arg13268Gly) c.39721C>G (p.Arg13241Gly) c.21484C>G (p.Arg7162Gly) c.11338C>G (p.Arg3780Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178615356G= | CA1310549818 | TTN,TTN-AS1 | c.40885C= (p.Arg13629=) c.21970C= (p.Arg7324=) c.21769C= (p.Arg7257=) c.21394C= (p.Arg7132=) c.48589C= (p.Arg16197=) c.43666C= (p.Arg14556=) n.1586G= c.47686C= (p.Arg15896=) c.21580C= (p.Arg7194=) c.21439C= (p.Arg7147=) c.47482C= (p.Arg15828=) c.42880C= (p.Arg14294=) c.42877C= (p.Arg14293=) c.39919C= (p.Arg13307=) c.21535C= (p.Arg7179=) c.43030C= (p.Arg14344=) c.43027C= (p.Arg14343=) c.42460C= (p.Arg14154=) c.39802C= (p.Arg13268=) c.39721C= (p.Arg13241=) c.21484C= (p.Arg7162=) c.11338C= (p.Arg3780=) | |
| 2 | g.178615356G>T | CA349608945 | TTN,TTN-AS1 | c.40885C>A (p.Arg13629Ser) c.21970C>A (p.Arg7324Ser) c.21769C>A (p.Arg7257Ser) c.21394C>A (p.Arg7132Ser) c.48589C>A (p.Arg16197Ser) c.43666C>A (p.Arg14556Ser) n.1586G>T c.47686C>A (p.Arg15896Ser) c.21580C>A (p.Arg7194Ser) c.21439C>A (p.Arg7147Ser) c.47482C>A (p.Arg15828Ser) c.42880C>A (p.Arg14294Ser) c.42877C>A (p.Arg14293Ser) c.39919C>A (p.Arg13307Ser) c.21535C>A (p.Arg7179Ser) c.43030C>A (p.Arg14344Ser) c.43027C>A (p.Arg14343Ser) c.42460C>A (p.Arg14154Ser) c.39802C>A (p.Arg13268Ser) c.39721C>A (p.Arg13241Ser) c.21484C>A (p.Arg7162Ser) c.11338C>A (p.Arg3780Ser) | |
| 2 | g.178615357T>A | CA430105183 | TTN,TTN-AS1 | c.40884A>T (p.Pro13628=) c.21969A>T (p.Pro7323=) c.21768A>T (p.Pro7256=) c.21393A>T (p.Pro7131=) c.48588A>T (p.Pro16196=) c.43665A>T (p.Pro14555=) n.1587T>A c.47685A>T (p.Pro15895=) c.21579A>T (p.Pro7193=) c.21438A>T (p.Pro7146=) c.47481A>T (p.Pro15827=) c.42879A>T (p.Pro14293=) c.42876A>T (p.Pro14292=) c.39918A>T (p.Pro13306=) c.21534A>T (p.Pro7178=) c.43029A>T (p.Pro14343=) c.43026A>T (p.Pro14342=) c.42459A>T (p.Pro14153=) c.39801A>T (p.Pro13267=) c.39720A>T (p.Pro13240=) c.21483A>T (p.Pro7161=) c.11337A>T (p.Pro3779=) | |
| 2 | g.178615357T>C | CA430105185 | TTN,TTN-AS1 | c.40884A>G (p.Pro13628=) c.21969A>G (p.Pro7323=) c.21768A>G (p.Pro7256=) c.21393A>G (p.Pro7131=) c.48588A>G (p.Pro16196=) c.43665A>G (p.Pro14555=) n.1587T>C c.47685A>G (p.Pro15895=) c.21579A>G (p.Pro7193=) c.21438A>G (p.Pro7146=) c.47481A>G (p.Pro15827=) c.42879A>G (p.Pro14293=) c.42876A>G (p.Pro14292=) c.39918A>G (p.Pro13306=) c.21534A>G (p.Pro7178=) c.43029A>G (p.Pro14343=) c.43026A>G (p.Pro14342=) c.42459A>G (p.Pro14153=) c.39801A>G (p.Pro13267=) c.39720A>G (p.Pro13240=) c.21483A>G (p.Pro7161=) c.11337A>G (p.Pro3779=) | |
| 2 | g.178615357T>G | CA430105188 | TTN,TTN-AS1 | c.40884A>C (p.Pro13628=) c.21969A>C (p.Pro7323=) c.21768A>C (p.Pro7256=) c.21393A>C (p.Pro7131=) c.48588A>C (p.Pro16196=) c.43665A>C (p.Pro14555=) n.1587T>G c.47685A>C (p.Pro15895=) c.21579A>C (p.Pro7193=) c.21438A>C (p.Pro7146=) c.47481A>C (p.Pro15827=) c.42879A>C (p.Pro14293=) c.42876A>C (p.Pro14292=) c.39918A>C (p.Pro13306=) c.21534A>C (p.Pro7178=) c.43029A>C (p.Pro14343=) c.43026A>C (p.Pro14342=) c.42459A>C (p.Pro14153=) c.39801A>C (p.Pro13267=) c.39720A>C (p.Pro13240=) c.21483A>C (p.Pro7161=) c.11337A>C (p.Pro3779=) | dbSNP gnomAD v4 |
| 2 | g.178615357T= | CA1310549820 | TTN,TTN-AS1 | c.40884A= (p.Pro13628=) c.21969A= (p.Pro7323=) c.21768A= (p.Pro7256=) c.21393A= (p.Pro7131=) c.48588A= (p.Pro16196=) c.43665A= (p.Pro14555=) n.1587T= c.47685A= (p.Pro15895=) c.21579A= (p.Pro7193=) c.21438A= (p.Pro7146=) c.47481A= (p.Pro15827=) c.42879A= (p.Pro14293=) c.42876A= (p.Pro14292=) c.39918A= (p.Pro13306=) c.21534A= (p.Pro7178=) c.43029A= (p.Pro14343=) c.43026A= (p.Pro14342=) c.42459A= (p.Pro14153=) c.39801A= (p.Pro13267=) c.39720A= (p.Pro13240=) c.21483A= (p.Pro7161=) c.11337A= (p.Pro3779=) | |
| 2 | g.178615358G>A | CA349608948 | TTN,TTN-AS1 | c.40883C>T (p.Pro13628Leu) c.21968C>T (p.Pro7323Leu) c.21767C>T (p.Pro7256Leu) c.21392C>T (p.Pro7131Leu) c.48587C>T (p.Pro16196Leu) c.43664C>T (p.Pro14555Leu) n.1588G>A c.47684C>T (p.Pro15895Leu) c.21578C>T (p.Pro7193Leu) c.21437C>T (p.Pro7146Leu) c.47480C>T (p.Pro15827Leu) c.42878C>T (p.Pro14293Leu) c.42875C>T (p.Pro14292Leu) c.39917C>T (p.Pro13306Leu) c.21533C>T (p.Pro7178Leu) c.43028C>T (p.Pro14343Leu) c.43025C>T (p.Pro14342Leu) c.42458C>T (p.Pro14153Leu) c.39800C>T (p.Pro13267Leu) c.39719C>T (p.Pro13240Leu) c.21482C>T (p.Pro7161Leu) c.11336C>T (p.Pro3779Leu) | dbSNP gnomAD v4 |
| 2 | g.178615358G>C | CA349608949 | TTN,TTN-AS1 | c.40883C>G (p.Pro13628Arg) c.21968C>G (p.Pro7323Arg) c.21767C>G (p.Pro7256Arg) c.21392C>G (p.Pro7131Arg) c.48587C>G (p.Pro16196Arg) c.43664C>G (p.Pro14555Arg) n.1588G>C c.47684C>G (p.Pro15895Arg) c.21578C>G (p.Pro7193Arg) c.21437C>G (p.Pro7146Arg) c.47480C>G (p.Pro15827Arg) c.42878C>G (p.Pro14293Arg) c.42875C>G (p.Pro14292Arg) c.39917C>G (p.Pro13306Arg) c.21533C>G (p.Pro7178Arg) c.43028C>G (p.Pro14343Arg) c.43025C>G (p.Pro14342Arg) c.42458C>G (p.Pro14153Arg) c.39800C>G (p.Pro13267Arg) c.39719C>G (p.Pro13240Arg) c.21482C>G (p.Pro7161Arg) c.11336C>G (p.Pro3779Arg) | |
| 2 | g.178615358G= | CA1310549821 | TTN,TTN-AS1 | c.40883C= (p.Pro13628=) c.21968C= (p.Pro7323=) c.21767C= (p.Pro7256=) c.21392C= (p.Pro7131=) c.48587C= (p.Pro16196=) c.43664C= (p.Pro14555=) n.1588G= c.47684C= (p.Pro15895=) c.21578C= (p.Pro7193=) c.21437C= (p.Pro7146=) c.47480C= (p.Pro15827=) c.42878C= (p.Pro14293=) c.42875C= (p.Pro14292=) c.39917C= (p.Pro13306=) c.21533C= (p.Pro7178=) c.43028C= (p.Pro14343=) c.43025C= (p.Pro14342=) c.42458C= (p.Pro14153=) c.39800C= (p.Pro13267=) c.39719C= (p.Pro13240=) c.21482C= (p.Pro7161=) c.11336C= (p.Pro3779=) | |
| 2 | g.178615358G>T | CA349608951 | TTN,TTN-AS1 | c.40883C>A (p.Pro13628Gln) c.21968C>A (p.Pro7323Gln) c.21767C>A (p.Pro7256Gln) c.21392C>A (p.Pro7131Gln) c.48587C>A (p.Pro16196Gln) c.43664C>A (p.Pro14555Gln) n.1588G>T c.47684C>A (p.Pro15895Gln) c.21578C>A (p.Pro7193Gln) c.21437C>A (p.Pro7146Gln) c.47480C>A (p.Pro15827Gln) c.42878C>A (p.Pro14293Gln) c.42875C>A (p.Pro14292Gln) c.39917C>A (p.Pro13306Gln) c.21533C>A (p.Pro7178Gln) c.43028C>A (p.Pro14343Gln) c.43025C>A (p.Pro14342Gln) c.42458C>A (p.Pro14153Gln) c.39800C>A (p.Pro13267Gln) c.39719C>A (p.Pro13240Gln) c.21482C>A (p.Pro7161Gln) c.11336C>A (p.Pro3779Gln) | |
| 2 | g.178615359G>A | CA349608954 | TTN,TTN-AS1 | c.40882C>T (p.Pro13628Ser) c.21967C>T (p.Pro7323Ser) c.21766C>T (p.Pro7256Ser) c.21391C>T (p.Pro7131Ser) c.48586C>T (p.Pro16196Ser) c.43663C>T (p.Pro14555Ser) n.1589G>A c.47683C>T (p.Pro15895Ser) c.21577C>T (p.Pro7193Ser) c.21436C>T (p.Pro7146Ser) c.47479C>T (p.Pro15827Ser) c.42877C>T (p.Pro14293Ser) c.42874C>T (p.Pro14292Ser) c.39916C>T (p.Pro13306Ser) c.21532C>T (p.Pro7178Ser) c.43027C>T (p.Pro14343Ser) c.43024C>T (p.Pro14342Ser) c.42457C>T (p.Pro14153Ser) c.39799C>T (p.Pro13267Ser) c.39718C>T (p.Pro13240Ser) c.21481C>T (p.Pro7161Ser) c.11335C>T (p.Pro3779Ser) | gnomAD v4 |
| 2 | g.178615359G>C | CA349608956 | TTN,TTN-AS1 | c.40882C>G (p.Pro13628Ala) c.21967C>G (p.Pro7323Ala) c.21766C>G (p.Pro7256Ala) c.21391C>G (p.Pro7131Ala) c.48586C>G (p.Pro16196Ala) c.43663C>G (p.Pro14555Ala) n.1589G>C c.47683C>G (p.Pro15895Ala) c.21577C>G (p.Pro7193Ala) c.21436C>G (p.Pro7146Ala) c.47479C>G (p.Pro15827Ala) c.42877C>G (p.Pro14293Ala) c.42874C>G (p.Pro14292Ala) c.39916C>G (p.Pro13306Ala) c.21532C>G (p.Pro7178Ala) c.43027C>G (p.Pro14343Ala) c.43024C>G (p.Pro14342Ala) c.42457C>G (p.Pro14153Ala) c.39799C>G (p.Pro13267Ala) c.39718C>G (p.Pro13240Ala) c.21481C>G (p.Pro7161Ala) c.11335C>G (p.Pro3779Ala) | |
| 2 | g.178615359G>T | CA349608958 | TTN,TTN-AS1 | c.40882C>A (p.Pro13628Thr) c.21967C>A (p.Pro7323Thr) c.21766C>A (p.Pro7256Thr) c.21391C>A (p.Pro7131Thr) c.48586C>A (p.Pro16196Thr) c.43663C>A (p.Pro14555Thr) n.1589G>T c.47683C>A (p.Pro15895Thr) c.21577C>A (p.Pro7193Thr) c.21436C>A (p.Pro7146Thr) c.47479C>A (p.Pro15827Thr) c.42877C>A (p.Pro14293Thr) c.42874C>A (p.Pro14292Thr) c.39916C>A (p.Pro13306Thr) c.21532C>A (p.Pro7178Thr) c.43027C>A (p.Pro14343Thr) c.43024C>A (p.Pro14342Thr) c.42457C>A (p.Pro14153Thr) c.39799C>A (p.Pro13267Thr) c.39718C>A (p.Pro13240Thr) c.21481C>A (p.Pro7161Thr) c.11335C>A (p.Pro3779Thr) | |
| 2 | g.178615360A>C | CA349608961 | TTN,TTN-AS1 | c.40881T>G (p.Cys13627Trp) c.21966T>G (p.Cys7322Trp) c.21765T>G (p.Cys7255Trp) c.21390T>G (p.Cys7130Trp) c.48585T>G (p.Cys16195Trp) c.43662T>G (p.Cys14554Trp) n.1590A>C c.47682T>G (p.Cys15894Trp) c.21576T>G (p.Cys7192Trp) c.21435T>G (p.Cys7145Trp) c.47478T>G (p.Cys15826Trp) c.42876T>G (p.Cys14292Trp) c.42873T>G (p.Cys14291Trp) c.39915T>G (p.Cys13305Trp) c.21531T>G (p.Cys7177Trp) c.43026T>G (p.Cys14342Trp) c.43023T>G (p.Cys14341Trp) c.42456T>G (p.Cys14152Trp) c.39798T>G (p.Cys13266Trp) c.39717T>G (p.Cys13239Trp) c.21480T>G (p.Cys7160Trp) c.11334T>G (p.Cys3778Trp) | |
| 2 | g.178615360A>G | CA430105196 | TTN,TTN-AS1 | c.40881T>C (p.Cys13627=) c.21966T>C (p.Cys7322=) c.21765T>C (p.Cys7255=) c.21390T>C (p.Cys7130=) c.48585T>C (p.Cys16195=) c.43662T>C (p.Cys14554=) n.1590A>G c.47682T>C (p.Cys15894=) c.21576T>C (p.Cys7192=) c.21435T>C (p.Cys7145=) c.47478T>C (p.Cys15826=) c.42876T>C (p.Cys14292=) c.42873T>C (p.Cys14291=) c.39915T>C (p.Cys13305=) c.21531T>C (p.Cys7177=) c.43026T>C (p.Cys14342=) c.43023T>C (p.Cys14341=) c.42456T>C (p.Cys14152=) c.39798T>C (p.Cys13266=) c.39717T>C (p.Cys13239=) c.21480T>C (p.Cys7160=) c.11334T>C (p.Cys3778=) | |
| 2 | g.178615360A>T | CA349608962 | TTN,TTN-AS1 | c.40881T>A (p.Cys13627Ter) c.21966T>A (p.Cys7322Ter) c.21765T>A (p.Cys7255Ter) c.21390T>A (p.Cys7130Ter) c.48585T>A (p.Cys16195Ter) c.43662T>A (p.Cys14554Ter) n.1590A>T c.47682T>A (p.Cys15894Ter) c.21576T>A (p.Cys7192Ter) c.21435T>A (p.Cys7145Ter) c.47478T>A (p.Cys15826Ter) c.42876T>A (p.Cys14292Ter) c.42873T>A (p.Cys14291Ter) c.39915T>A (p.Cys13305Ter) c.21531T>A (p.Cys7177Ter) c.43026T>A (p.Cys14342Ter) c.43023T>A (p.Cys14341Ter) c.42456T>A (p.Cys14152Ter) c.39798T>A (p.Cys13266Ter) c.39717T>A (p.Cys13239Ter) c.21480T>A (p.Cys7160Ter) c.11334T>A (p.Cys3778Ter) | gnomAD v4 |
| 2 | g.178615361C>A | CA349608967 | TTN,TTN-AS1 | c.40880G>T (p.Cys13627Phe) c.21965G>T (p.Cys7322Phe) c.21764G>T (p.Cys7255Phe) c.21389G>T (p.Cys7130Phe) c.48584G>T (p.Cys16195Phe) c.43661G>T (p.Cys14554Phe) n.1591C>A c.47681G>T (p.Cys15894Phe) c.21575G>T (p.Cys7192Phe) c.21434G>T (p.Cys7145Phe) c.47477G>T (p.Cys15826Phe) c.42875G>T (p.Cys14292Phe) c.42872G>T (p.Cys14291Phe) c.39914G>T (p.Cys13305Phe) c.21530G>T (p.Cys7177Phe) c.43025G>T (p.Cys14342Phe) c.43022G>T (p.Cys14341Phe) c.42455G>T (p.Cys14152Phe) c.39797G>T (p.Cys13266Phe) c.39716G>T (p.Cys13239Phe) c.21479G>T (p.Cys7160Phe) c.11333G>T (p.Cys3778Phe) | gnomAD v4 |
| 2 | g.178615361C>G | CA349608968 | TTN,TTN-AS1 | c.40880G>C (p.Cys13627Ser) c.21965G>C (p.Cys7322Ser) c.21764G>C (p.Cys7255Ser) c.21389G>C (p.Cys7130Ser) c.48584G>C (p.Cys16195Ser) c.43661G>C (p.Cys14554Ser) n.1591C>G c.47681G>C (p.Cys15894Ser) c.21575G>C (p.Cys7192Ser) c.21434G>C (p.Cys7145Ser) c.47477G>C (p.Cys15826Ser) c.42875G>C (p.Cys14292Ser) c.42872G>C (p.Cys14291Ser) c.39914G>C (p.Cys13305Ser) c.21530G>C (p.Cys7177Ser) c.43025G>C (p.Cys14342Ser) c.43022G>C (p.Cys14341Ser) c.42455G>C (p.Cys14152Ser) c.39797G>C (p.Cys13266Ser) c.39716G>C (p.Cys13239Ser) c.21479G>C (p.Cys7160Ser) c.11333G>C (p.Cys3778Ser) | |
| 2 | g.178615361C>T | CA349608965 | TTN,TTN-AS1 | c.40880G>A (p.Cys13627Tyr) c.21965G>A (p.Cys7322Tyr) c.21764G>A (p.Cys7255Tyr) c.21389G>A (p.Cys7130Tyr) c.48584G>A (p.Cys16195Tyr) c.43661G>A (p.Cys14554Tyr) n.1591C>T c.47681G>A (p.Cys15894Tyr) c.21575G>A (p.Cys7192Tyr) c.21434G>A (p.Cys7145Tyr) c.47477G>A (p.Cys15826Tyr) c.42875G>A (p.Cys14292Tyr) c.42872G>A (p.Cys14291Tyr) c.39914G>A (p.Cys13305Tyr) c.21530G>A (p.Cys7177Tyr) c.43025G>A (p.Cys14342Tyr) c.43022G>A (p.Cys14341Tyr) c.42455G>A (p.Cys14152Tyr) c.39797G>A (p.Cys13266Tyr) c.39716G>A (p.Cys13239Tyr) c.21479G>A (p.Cys7160Tyr) c.11333G>A (p.Cys3778Tyr) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178615362A>C | CA349608971 | TTN,TTN-AS1 | c.40879T>G (p.Cys13627Gly) c.21964T>G (p.Cys7322Gly) c.21763T>G (p.Cys7255Gly) c.21388T>G (p.Cys7130Gly) c.48583T>G (p.Cys16195Gly) c.43660T>G (p.Cys14554Gly) n.1592A>C c.47680T>G (p.Cys15894Gly) c.21574T>G (p.Cys7192Gly) c.21433T>G (p.Cys7145Gly) c.47476T>G (p.Cys15826Gly) c.42874T>G (p.Cys14292Gly) c.42871T>G (p.Cys14291Gly) c.39913T>G (p.Cys13305Gly) c.21529T>G (p.Cys7177Gly) c.43024T>G (p.Cys14342Gly) c.43021T>G (p.Cys14341Gly) c.42454T>G (p.Cys14152Gly) c.39796T>G (p.Cys13266Gly) c.39715T>G (p.Cys13239Gly) c.21478T>G (p.Cys7160Gly) c.11332T>G (p.Cys3778Gly) | |
| 2 | g.178615362A>G | CA349608974 | TTN,TTN-AS1 | c.40879T>C (p.Cys13627Arg) c.21964T>C (p.Cys7322Arg) c.21763T>C (p.Cys7255Arg) c.21388T>C (p.Cys7130Arg) c.48583T>C (p.Cys16195Arg) c.43660T>C (p.Cys14554Arg) n.1592A>G c.47680T>C (p.Cys15894Arg) c.21574T>C (p.Cys7192Arg) c.21433T>C (p.Cys7145Arg) c.47476T>C (p.Cys15826Arg) c.42874T>C (p.Cys14292Arg) c.42871T>C (p.Cys14291Arg) c.39913T>C (p.Cys13305Arg) c.21529T>C (p.Cys7177Arg) c.43024T>C (p.Cys14342Arg) c.43021T>C (p.Cys14341Arg) c.42454T>C (p.Cys14152Arg) c.39796T>C (p.Cys13266Arg) c.39715T>C (p.Cys13239Arg) c.21478T>C (p.Cys7160Arg) c.11332T>C (p.Cys3778Arg) | gnomAD v4 |
| 2 | g.178615362A>T | CA349608973 | TTN,TTN-AS1 | c.40879T>A (p.Cys13627Ser) c.21964T>A (p.Cys7322Ser) c.21763T>A (p.Cys7255Ser) c.21388T>A (p.Cys7130Ser) c.48583T>A (p.Cys16195Ser) c.43660T>A (p.Cys14554Ser) n.1592A>T c.47680T>A (p.Cys15894Ser) c.21574T>A (p.Cys7192Ser) c.21433T>A (p.Cys7145Ser) c.47476T>A (p.Cys15826Ser) c.42874T>A (p.Cys14292Ser) c.42871T>A (p.Cys14291Ser) c.39913T>A (p.Cys13305Ser) c.21529T>A (p.Cys7177Ser) c.43024T>A (p.Cys14342Ser) c.43021T>A (p.Cys14341Ser) c.42454T>A (p.Cys14152Ser) c.39796T>A (p.Cys13266Ser) c.39715T>A (p.Cys13239Ser) c.21478T>A (p.Cys7160Ser) c.11332T>A (p.Cys3778Ser) | |
| 2 | g.178615363T>A | CA349608975 | TTN,TTN-AS1 | c.40878A>T (p.Arg13626Ser) c.21963A>T (p.Arg7321Ser) c.21762A>T (p.Arg7254Ser) c.21387A>T (p.Arg7129Ser) c.48582A>T (p.Arg16194Ser) c.43659A>T (p.Arg14553Ser) n.1593T>A c.47679A>T (p.Arg15893Ser) c.21573A>T (p.Arg7191Ser) c.21432A>T (p.Arg7144Ser) c.47475A>T (p.Arg15825Ser) c.42873A>T (p.Arg14291Ser) c.42870A>T (p.Arg14290Ser) c.39912A>T (p.Arg13304Ser) c.21528A>T (p.Arg7176Ser) c.43023A>T (p.Arg14341Ser) c.43020A>T (p.Arg14340Ser) c.42453A>T (p.Arg14151Ser) c.39795A>T (p.Arg13265Ser) c.39714A>T (p.Arg13238Ser) c.21477A>T (p.Arg7159Ser) c.11331A>T (p.Arg3777Ser) | |
| 2 | g.178615363T>C | CA430105206 | TTN,TTN-AS1 | c.40878A>G (p.Arg13626=) c.21963A>G (p.Arg7321=) c.21762A>G (p.Arg7254=) c.21387A>G (p.Arg7129=) c.48582A>G (p.Arg16194=) c.43659A>G (p.Arg14553=) n.1593T>C c.47679A>G (p.Arg15893=) c.21573A>G (p.Arg7191=) c.21432A>G (p.Arg7144=) c.47475A>G (p.Arg15825=) c.42873A>G (p.Arg14291=) c.42870A>G (p.Arg14290=) c.39912A>G (p.Arg13304=) c.21528A>G (p.Arg7176=) c.43023A>G (p.Arg14341=) c.43020A>G (p.Arg14340=) c.42453A>G (p.Arg14151=) c.39795A>G (p.Arg13265=) c.39714A>G (p.Arg13238=) c.21477A>G (p.Arg7159=) c.11331A>G (p.Arg3777=) | |
| 2 | g.178615363T>G | CA349608976 | TTN,TTN-AS1 | c.40878A>C (p.Arg13626Ser) c.21963A>C (p.Arg7321Ser) c.21762A>C (p.Arg7254Ser) c.21387A>C (p.Arg7129Ser) c.48582A>C (p.Arg16194Ser) c.43659A>C (p.Arg14553Ser) n.1593T>G c.47679A>C (p.Arg15893Ser) c.21573A>C (p.Arg7191Ser) c.21432A>C (p.Arg7144Ser) c.47475A>C (p.Arg15825Ser) c.42873A>C (p.Arg14291Ser) c.42870A>C (p.Arg14290Ser) c.39912A>C (p.Arg13304Ser) c.21528A>C (p.Arg7176Ser) c.43023A>C (p.Arg14341Ser) c.43020A>C (p.Arg14340Ser) c.42453A>C (p.Arg14151Ser) c.39795A>C (p.Arg13265Ser) c.39714A>C (p.Arg13238Ser) c.21477A>C (p.Arg7159Ser) c.11331A>C (p.Arg3777Ser) | |
| 2 | g.178615364C>A | CA349608977 | TTN,TTN-AS1 | c.40877G>T (p.Arg13626Ile) c.21962G>T (p.Arg7321Ile) c.21761G>T (p.Arg7254Ile) c.21386G>T (p.Arg7129Ile) c.48581G>T (p.Arg16194Ile) c.43658G>T (p.Arg14553Ile) n.1594C>A c.47678G>T (p.Arg15893Ile) c.21572G>T (p.Arg7191Ile) c.21431G>T (p.Arg7144Ile) c.47474G>T (p.Arg15825Ile) c.42872G>T (p.Arg14291Ile) c.42869G>T (p.Arg14290Ile) c.39911G>T (p.Arg13304Ile) c.21527G>T (p.Arg7176Ile) c.43022G>T (p.Arg14341Ile) c.43019G>T (p.Arg14340Ile) c.42452G>T (p.Arg14151Ile) c.39794G>T (p.Arg13265Ile) c.39713G>T (p.Arg13238Ile) c.21476G>T (p.Arg7159Ile) c.11330G>T (p.Arg3777Ile) | |
| 2 | g.178615364C>G | CA349608978 | TTN,TTN-AS1 | c.40877G>C (p.Arg13626Thr) c.21962G>C (p.Arg7321Thr) c.21761G>C (p.Arg7254Thr) c.21386G>C (p.Arg7129Thr) c.48581G>C (p.Arg16194Thr) c.43658G>C (p.Arg14553Thr) n.1594C>G c.47678G>C (p.Arg15893Thr) c.21572G>C (p.Arg7191Thr) c.21431G>C (p.Arg7144Thr) c.47474G>C (p.Arg15825Thr) c.42872G>C (p.Arg14291Thr) c.42869G>C (p.Arg14290Thr) c.39911G>C (p.Arg13304Thr) c.21527G>C (p.Arg7176Thr) c.43022G>C (p.Arg14341Thr) c.43019G>C (p.Arg14340Thr) c.42452G>C (p.Arg14151Thr) c.39794G>C (p.Arg13265Thr) c.39713G>C (p.Arg13238Thr) c.21476G>C (p.Arg7159Thr) c.11330G>C (p.Arg3777Thr) | |
| 2 | g.178615364C>T | CA349608980 | TTN,TTN-AS1 | c.40877G>A (p.Arg13626Lys) c.21962G>A (p.Arg7321Lys) c.21761G>A (p.Arg7254Lys) c.21386G>A (p.Arg7129Lys) c.48581G>A (p.Arg16194Lys) c.43658G>A (p.Arg14553Lys) n.1594C>T c.47678G>A (p.Arg15893Lys) c.21572G>A (p.Arg7191Lys) c.21431G>A (p.Arg7144Lys) c.47474G>A (p.Arg15825Lys) c.42872G>A (p.Arg14291Lys) c.42869G>A (p.Arg14290Lys) c.39911G>A (p.Arg13304Lys) c.21527G>A (p.Arg7176Lys) c.43022G>A (p.Arg14341Lys) c.43019G>A (p.Arg14340Lys) c.42452G>A (p.Arg14151Lys) c.39794G>A (p.Arg13265Lys) c.39713G>A (p.Arg13238Lys) c.21476G>A (p.Arg7159Lys) c.11330G>A (p.Arg3777Lys) | |
| 2 | g.178615365T>A | CA349608983 | TTN,TTN-AS1 | c.40876A>T (p.Arg13626Ter) c.21961A>T (p.Arg7321Ter) c.21760A>T (p.Arg7254Ter) c.21385A>T (p.Arg7129Ter) c.48580A>T (p.Arg16194Ter) c.43657A>T (p.Arg14553Ter) n.1595T>A c.47677A>T (p.Arg15893Ter) c.21571A>T (p.Arg7191Ter) c.21430A>T (p.Arg7144Ter) c.47473A>T (p.Arg15825Ter) c.42871A>T (p.Arg14291Ter) c.42868A>T (p.Arg14290Ter) c.39910A>T (p.Arg13304Ter) c.21526A>T (p.Arg7176Ter) c.43021A>T (p.Arg14341Ter) c.43018A>T (p.Arg14340Ter) c.42451A>T (p.Arg14151Ter) c.39793A>T (p.Arg13265Ter) c.39712A>T (p.Arg13238Ter) c.21475A>T (p.Arg7159Ter) c.11329A>T (p.Arg3777Ter) | |
| 2 | g.178615365T>C | CA349608984 | TTN,TTN-AS1 | c.40876A>G (p.Arg13626Gly) c.21961A>G (p.Arg7321Gly) c.21760A>G (p.Arg7254Gly) c.21385A>G (p.Arg7129Gly) c.48580A>G (p.Arg16194Gly) c.43657A>G (p.Arg14553Gly) n.1595T>C c.47677A>G (p.Arg15893Gly) c.21571A>G (p.Arg7191Gly) c.21430A>G (p.Arg7144Gly) c.47473A>G (p.Arg15825Gly) c.42871A>G (p.Arg14291Gly) c.42868A>G (p.Arg14290Gly) c.39910A>G (p.Arg13304Gly) c.21526A>G (p.Arg7176Gly) c.43021A>G (p.Arg14341Gly) c.43018A>G (p.Arg14340Gly) c.42451A>G (p.Arg14151Gly) c.39793A>G (p.Arg13265Gly) c.39712A>G (p.Arg13238Gly) c.21475A>G (p.Arg7159Gly) c.11329A>G (p.Arg3777Gly) | |
| 2 | g.178615365T>G | CA430105211 | TTN,TTN-AS1 | c.40876A>C (p.Arg13626=) c.21961A>C (p.Arg7321=) c.21760A>C (p.Arg7254=) c.21385A>C (p.Arg7129=) c.48580A>C (p.Arg16194=) c.43657A>C (p.Arg14553=) n.1595T>G c.47677A>C (p.Arg15893=) c.21571A>C (p.Arg7191=) c.21430A>C (p.Arg7144=) c.47473A>C (p.Arg15825=) c.42871A>C (p.Arg14291=) c.42868A>C (p.Arg14290=) c.39910A>C (p.Arg13304=) c.21526A>C (p.Arg7176=) c.43021A>C (p.Arg14341=) c.43018A>C (p.Arg14340=) c.42451A>C (p.Arg14151=) c.39793A>C (p.Arg13265=) c.39712A>C (p.Arg13238=) c.21475A>C (p.Arg7159=) c.11329A>C (p.Arg3777=) | |
| 2 | g.178615366T>A | CA349608986 | TTN,TTN-AS1 | c.40875A>T (p.Glu13625Asp) c.21960A>T (p.Glu7320Asp) c.21759A>T (p.Glu7253Asp) c.21384A>T (p.Glu7128Asp) c.48579A>T (p.Glu16193Asp) c.43656A>T (p.Glu14552Asp) n.1596T>A c.47676A>T (p.Glu15892Asp) c.21570A>T (p.Glu7190Asp) c.21429A>T (p.Glu7143Asp) c.47472A>T (p.Glu15824Asp) c.42870A>T (p.Glu14290Asp) c.42867A>T (p.Glu14289Asp) c.39909A>T (p.Glu13303Asp) c.21525A>T (p.Glu7175Asp) c.43020A>T (p.Glu14340Asp) c.43017A>T (p.Glu14339Asp) c.42450A>T (p.Glu14150Asp) c.39792A>T (p.Glu13264Asp) c.39711A>T (p.Glu13237Asp) c.21474A>T (p.Glu7158Asp) c.11328A>T (p.Glu3776Asp) | |
| 2 | g.178615366T>C | CA430105217 | TTN,TTN-AS1 | c.40875A>G (p.Glu13625=) c.21960A>G (p.Glu7320=) c.21759A>G (p.Glu7253=) c.21384A>G (p.Glu7128=) c.48579A>G (p.Glu16193=) c.43656A>G (p.Glu14552=) n.1596T>C c.47676A>G (p.Glu15892=) c.21570A>G (p.Glu7190=) c.21429A>G (p.Glu7143=) c.47472A>G (p.Glu15824=) c.42870A>G (p.Glu14290=) c.42867A>G (p.Glu14289=) c.39909A>G (p.Glu13303=) c.21525A>G (p.Glu7175=) c.43020A>G (p.Glu14340=) c.43017A>G (p.Glu14339=) c.42450A>G (p.Glu14150=) c.39792A>G (p.Glu13264=) c.39711A>G (p.Glu13237=) c.21474A>G (p.Glu7158=) c.11328A>G (p.Glu3776=) | ClinVar |
| 2 | g.178615366T>G | CA349608987 | TTN,TTN-AS1 | c.40875A>C (p.Glu13625Asp) c.21960A>C (p.Glu7320Asp) c.21759A>C (p.Glu7253Asp) c.21384A>C (p.Glu7128Asp) c.48579A>C (p.Glu16193Asp) c.43656A>C (p.Glu14552Asp) n.1596T>G c.47676A>C (p.Glu15892Asp) c.21570A>C (p.Glu7190Asp) c.21429A>C (p.Glu7143Asp) c.47472A>C (p.Glu15824Asp) c.42870A>C (p.Glu14290Asp) c.42867A>C (p.Glu14289Asp) c.39909A>C (p.Glu13303Asp) c.21525A>C (p.Glu7175Asp) c.43020A>C (p.Glu14340Asp) c.43017A>C (p.Glu14339Asp) c.42450A>C (p.Glu14150Asp) c.39792A>C (p.Glu13264Asp) c.39711A>C (p.Glu13237Asp) c.21474A>C (p.Glu7158Asp) c.11328A>C (p.Glu3776Asp) | |
| 2 | g.178615367T>A | CA349608990 | TTN,TTN-AS1 | c.40874A>T (p.Glu13625Val) c.21959A>T (p.Glu7320Val) c.21758A>T (p.Glu7253Val) c.21383A>T (p.Glu7128Val) c.48578A>T (p.Glu16193Val) c.43655A>T (p.Glu14552Val) n.1597T>A c.47675A>T (p.Glu15892Val) c.21569A>T (p.Glu7190Val) c.21428A>T (p.Glu7143Val) c.47471A>T (p.Glu15824Val) c.42869A>T (p.Glu14290Val) c.42866A>T (p.Glu14289Val) c.39908A>T (p.Glu13303Val) c.21524A>T (p.Glu7175Val) c.43019A>T (p.Glu14340Val) c.43016A>T (p.Glu14339Val) c.42449A>T (p.Glu14150Val) c.39791A>T (p.Glu13264Val) c.39710A>T (p.Glu13237Val) c.21473A>T (p.Glu7158Val) c.11327A>T (p.Glu3776Val) | |
| 2 | g.178615367T>C | CA349608991 | TTN,TTN-AS1 | c.40874A>G (p.Glu13625Gly) c.21959A>G (p.Glu7320Gly) c.21758A>G (p.Glu7253Gly) c.21383A>G (p.Glu7128Gly) c.48578A>G (p.Glu16193Gly) c.43655A>G (p.Glu14552Gly) n.1597T>C c.47675A>G (p.Glu15892Gly) c.21569A>G (p.Glu7190Gly) c.21428A>G (p.Glu7143Gly) c.47471A>G (p.Glu15824Gly) c.42869A>G (p.Glu14290Gly) c.42866A>G (p.Glu14289Gly) c.39908A>G (p.Glu13303Gly) c.21524A>G (p.Glu7175Gly) c.43019A>G (p.Glu14340Gly) c.43016A>G (p.Glu14339Gly) c.42449A>G (p.Glu14150Gly) c.39791A>G (p.Glu13264Gly) c.39710A>G (p.Glu13237Gly) c.21473A>G (p.Glu7158Gly) c.11327A>G (p.Glu3776Gly) | |
| 2 | g.178615367T>G | CA349608993 | TTN,TTN-AS1 | c.40874A>C (p.Glu13625Ala) c.21959A>C (p.Glu7320Ala) c.21758A>C (p.Glu7253Ala) c.21383A>C (p.Glu7128Ala) c.48578A>C (p.Glu16193Ala) c.43655A>C (p.Glu14552Ala) n.1597T>G c.47675A>C (p.Glu15892Ala) c.21569A>C (p.Glu7190Ala) c.21428A>C (p.Glu7143Ala) c.47471A>C (p.Glu15824Ala) c.42869A>C (p.Glu14290Ala) c.42866A>C (p.Glu14289Ala) c.39908A>C (p.Glu13303Ala) c.21524A>C (p.Glu7175Ala) c.43019A>C (p.Glu14340Ala) c.43016A>C (p.Glu14339Ala) c.42449A>C (p.Glu14150Ala) c.39791A>C (p.Glu13264Ala) c.39710A>C (p.Glu13237Ala) c.21473A>C (p.Glu7158Ala) c.11327A>C (p.Glu3776Ala) | |
| 2 | g.178615368C>A | CA349609000 | TTN,TTN-AS1 | c.40873G>T (p.Glu13625Ter) c.21958G>T (p.Glu7320Ter) c.21757G>T (p.Glu7253Ter) c.21382G>T (p.Glu7128Ter) c.48577G>T (p.Glu16193Ter) c.43654G>T (p.Glu14552Ter) n.1598C>A c.47674G>T (p.Glu15892Ter) c.21568G>T (p.Glu7190Ter) c.21427G>T (p.Glu7143Ter) c.47470G>T (p.Glu15824Ter) c.42868G>T (p.Glu14290Ter) c.42865G>T (p.Glu14289Ter) c.39907G>T (p.Glu13303Ter) c.21523G>T (p.Glu7175Ter) c.43018G>T (p.Glu14340Ter) c.43015G>T (p.Glu14339Ter) c.42448G>T (p.Glu14150Ter) c.39790G>T (p.Glu13264Ter) c.39709G>T (p.Glu13237Ter) c.21472G>T (p.Glu7158Ter) c.11326G>T (p.Glu3776Ter) | gnomAD v4 |
| 2 | g.178615368C= | CA1310549823 | TTN,TTN-AS1 | c.40873G= (p.Glu13625=) c.21958G= (p.Glu7320=) c.21757G= (p.Glu7253=) c.21382G= (p.Glu7128=) c.48577G= (p.Glu16193=) c.43654G= (p.Glu14552=) n.1598C= c.47674G= (p.Glu15892=) c.21568G= (p.Glu7190=) c.21427G= (p.Glu7143=) c.47470G= (p.Glu15824=) c.42868G= (p.Glu14290=) c.42865G= (p.Glu14289=) c.39907G= (p.Glu13303=) c.21523G= (p.Glu7175=) c.43018G= (p.Glu14340=) c.43015G= (p.Glu14339=) c.42448G= (p.Glu14150=) c.39790G= (p.Glu13264=) c.39709G= (p.Glu13237=) c.21472G= (p.Glu7158=) c.11326G= (p.Glu3776=) | |
| 2 | g.178615368C>G | CA349608996 | TTN,TTN-AS1 | c.40873G>C (p.Glu13625Gln) c.21958G>C (p.Glu7320Gln) c.21757G>C (p.Glu7253Gln) c.21382G>C (p.Glu7128Gln) c.48577G>C (p.Glu16193Gln) c.43654G>C (p.Glu14552Gln) n.1598C>G c.47674G>C (p.Glu15892Gln) c.21568G>C (p.Glu7190Gln) c.21427G>C (p.Glu7143Gln) c.47470G>C (p.Glu15824Gln) c.42868G>C (p.Glu14290Gln) c.42865G>C (p.Glu14289Gln) c.39907G>C (p.Glu13303Gln) c.21523G>C (p.Glu7175Gln) c.43018G>C (p.Glu14340Gln) c.43015G>C (p.Glu14339Gln) c.42448G>C (p.Glu14150Gln) c.39790G>C (p.Glu13264Gln) c.39709G>C (p.Glu13237Gln) c.21472G>C (p.Glu7158Gln) c.11326G>C (p.Glu3776Gln) | dbSNP |
| 2 | g.178615368C>T | CA349608998 | TTN,TTN-AS1 | c.40873G>A (p.Glu13625Lys) c.21958G>A (p.Glu7320Lys) c.21757G>A (p.Glu7253Lys) c.21382G>A (p.Glu7128Lys) c.48577G>A (p.Glu16193Lys) c.43654G>A (p.Glu14552Lys) n.1598C>T c.47674G>A (p.Glu15892Lys) c.21568G>A (p.Glu7190Lys) c.21427G>A (p.Glu7143Lys) c.47470G>A (p.Glu15824Lys) c.42868G>A (p.Glu14290Lys) c.42865G>A (p.Glu14289Lys) c.39907G>A (p.Glu13303Lys) c.21523G>A (p.Glu7175Lys) c.43018G>A (p.Glu14340Lys) c.43015G>A (p.Glu14339Lys) c.42448G>A (p.Glu14150Lys) c.39790G>A (p.Glu13264Lys) c.39709G>A (p.Glu13237Lys) c.21472G>A (p.Glu7158Lys) c.11326G>A (p.Glu3776Lys) | |
| 2 | g.178615369A= | CA1310549824 | TTN,TTN-AS1 | c.40872T= (p.Val13624=) c.21957T= (p.Val7319=) c.21756T= (p.Val7252=) c.21381T= (p.Val7127=) c.48576T= (p.Val16192=) c.43653T= (p.Val14551=) n.1599A= c.47673T= (p.Val15891=) c.21567T= (p.Val7189=) c.21426T= (p.Val7142=) c.47469T= (p.Val15823=) c.42867T= (p.Val14289=) c.42864T= (p.Val14288=) c.39906T= (p.Val13302=) c.21522T= (p.Val7174=) c.43017T= (p.Val14339=) c.43014T= (p.Val14338=) c.42447T= (p.Val14149=) c.39789T= (p.Val13263=) c.39708T= (p.Val13236=) c.21471T= (p.Val7157=) c.11325T= (p.Val3775=) | |
| 2 | g.178615369A>C | CA430105221 | TTN,TTN-AS1 | c.40872T>G (p.Val13624=) c.21957T>G (p.Val7319=) c.21756T>G (p.Val7252=) c.21381T>G (p.Val7127=) c.48576T>G (p.Val16192=) c.43653T>G (p.Val14551=) n.1599A>C c.47673T>G (p.Val15891=) c.21567T>G (p.Val7189=) c.21426T>G (p.Val7142=) c.47469T>G (p.Val15823=) c.42867T>G (p.Val14289=) c.42864T>G (p.Val14288=) c.39906T>G (p.Val13302=) c.21522T>G (p.Val7174=) c.43017T>G (p.Val14339=) c.43014T>G (p.Val14338=) c.42447T>G (p.Val14149=) c.39789T>G (p.Val13263=) c.39708T>G (p.Val13236=) c.21471T>G (p.Val7157=) c.11325T>G (p.Val3775=) | |
| 2 | g.178615369A>G | CA430105222 | TTN,TTN-AS1 | c.40872T>C (p.Val13624=) c.21957T>C (p.Val7319=) c.21756T>C (p.Val7252=) c.21381T>C (p.Val7127=) c.48576T>C (p.Val16192=) c.43653T>C (p.Val14551=) n.1599A>G c.47673T>C (p.Val15891=) c.21567T>C (p.Val7189=) c.21426T>C (p.Val7142=) c.47469T>C (p.Val15823=) c.42867T>C (p.Val14289=) c.42864T>C (p.Val14288=) c.39906T>C (p.Val13302=) c.21522T>C (p.Val7174=) c.43017T>C (p.Val14339=) c.43014T>C (p.Val14338=) c.42447T>C (p.Val14149=) c.39789T>C (p.Val13263=) c.39708T>C (p.Val13236=) c.21471T>C (p.Val7157=) c.11325T>C (p.Val3775=) | ClinVar dbSNP |
| 2 | g.178615369A>T | CA1994785 | TTN,TTN-AS1 | c.40872T>A (p.Val13624=) c.21957T>A (p.Val7319=) c.21756T>A (p.Val7252=) c.21381T>A (p.Val7127=) c.48576T>A (p.Val16192=) c.43653T>A (p.Val14551=) n.1599A>T c.47673T>A (p.Val15891=) c.21567T>A (p.Val7189=) c.21426T>A (p.Val7142=) c.47469T>A (p.Val15823=) c.42867T>A (p.Val14289=) c.42864T>A (p.Val14288=) c.39906T>A (p.Val13302=) c.21522T>A (p.Val7174=) c.43017T>A (p.Val14339=) c.43014T>A (p.Val14338=) c.42447T>A (p.Val14149=) c.39789T>A (p.Val13263=) c.39708T>A (p.Val13236=) c.21471T>A (p.Val7157=) c.11325T>A (p.Val3775=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178615370A>C | CA349609004 | TTN,TTN-AS1 | c.40871T>G (p.Val13624Gly) c.21956T>G (p.Val7319Gly) c.21755T>G (p.Val7252Gly) c.21380T>G (p.Val7127Gly) c.48575T>G (p.Val16192Gly) c.43652T>G (p.Val14551Gly) n.1600A>C c.47672T>G (p.Val15891Gly) c.21566T>G (p.Val7189Gly) c.21425T>G (p.Val7142Gly) c.47468T>G (p.Val15823Gly) c.42866T>G (p.Val14289Gly) c.42863T>G (p.Val14288Gly) c.39905T>G (p.Val13302Gly) c.21521T>G (p.Val7174Gly) c.43016T>G (p.Val14339Gly) c.43013T>G (p.Val14338Gly) c.42446T>G (p.Val14149Gly) c.39788T>G (p.Val13263Gly) c.39707T>G (p.Val13236Gly) c.21470T>G (p.Val7157Gly) c.11324T>G (p.Val3775Gly) | ClinVar |
| 2 | g.178615370A>G | CA349609005 | TTN,TTN-AS1 | c.40871T>C (p.Val13624Ala) c.21956T>C (p.Val7319Ala) c.21755T>C (p.Val7252Ala) c.21380T>C (p.Val7127Ala) c.48575T>C (p.Val16192Ala) c.43652T>C (p.Val14551Ala) n.1600A>G c.47672T>C (p.Val15891Ala) c.21566T>C (p.Val7189Ala) c.21425T>C (p.Val7142Ala) c.47468T>C (p.Val15823Ala) c.42866T>C (p.Val14289Ala) c.42863T>C (p.Val14288Ala) c.39905T>C (p.Val13302Ala) c.21521T>C (p.Val7174Ala) c.43016T>C (p.Val14339Ala) c.43013T>C (p.Val14338Ala) c.42446T>C (p.Val14149Ala) c.39788T>C (p.Val13263Ala) c.39707T>C (p.Val13236Ala) c.21470T>C (p.Val7157Ala) c.11324T>C (p.Val3775Ala) | |
| 2 | g.178615370A>T | CA349609007 | TTN,TTN-AS1 | c.40871T>A (p.Val13624Asp) c.21956T>A (p.Val7319Asp) c.21755T>A (p.Val7252Asp) c.21380T>A (p.Val7127Asp) c.48575T>A (p.Val16192Asp) c.43652T>A (p.Val14551Asp) n.1600A>T c.47672T>A (p.Val15891Asp) c.21566T>A (p.Val7189Asp) c.21425T>A (p.Val7142Asp) c.47468T>A (p.Val15823Asp) c.42866T>A (p.Val14289Asp) c.42863T>A (p.Val14288Asp) c.39905T>A (p.Val13302Asp) c.21521T>A (p.Val7174Asp) c.43016T>A (p.Val14339Asp) c.43013T>A (p.Val14338Asp) c.42446T>A (p.Val14149Asp) c.39788T>A (p.Val13263Asp) c.39707T>A (p.Val13236Asp) c.21470T>A (p.Val7157Asp) c.11324T>A (p.Val3775Asp) |