| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178533953T>A | CA349417034 | TTN,TTN-AS1 | c.94958A>T (p.Tyr31653Phe) c.76043A>T (p.Tyr25348Phe) c.75842A>T (p.Tyr25281Phe) c.75467A>T (p.Tyr25156Phe) c.102662A>T (p.Tyr34221Phe) c.97739A>T (p.Tyr32580Phe) n.446+10317T>A n.220-1779T>A c.101759A>T (p.Tyr33920Phe) c.75653A>T (p.Tyr25218Phe) c.75512A>T (p.Tyr25171Phe) c.101555A>T (p.Tyr33852Phe) c.96953A>T (p.Tyr32318Phe) c.96950A>T (p.Tyr32317Phe) c.93992A>T (p.Tyr31331Phe) c.75608A>T (p.Tyr25203Phe) c.97103A>T (p.Tyr32368Phe) c.97100A>T (p.Tyr32367Phe) c.96533A>T (p.Tyr32178Phe) c.93875A>T (p.Tyr31292Phe) c.93794A>T (p.Tyr31265Phe) c.75557A>T (p.Tyr25186Phe) c.65411A>T (p.Tyr21804Phe) | |
| 2 | g.178533953T>C | CA349417035 | TTN,TTN-AS1 | c.94958A>G (p.Tyr31653Cys) c.76043A>G (p.Tyr25348Cys) c.75842A>G (p.Tyr25281Cys) c.75467A>G (p.Tyr25156Cys) c.102662A>G (p.Tyr34221Cys) c.97739A>G (p.Tyr32580Cys) n.446+10317T>C n.220-1779T>C c.101759A>G (p.Tyr33920Cys) c.75653A>G (p.Tyr25218Cys) c.75512A>G (p.Tyr25171Cys) c.101555A>G (p.Tyr33852Cys) c.96953A>G (p.Tyr32318Cys) c.96950A>G (p.Tyr32317Cys) c.93992A>G (p.Tyr31331Cys) c.75608A>G (p.Tyr25203Cys) c.97103A>G (p.Tyr32368Cys) c.97100A>G (p.Tyr32367Cys) c.96533A>G (p.Tyr32178Cys) c.93875A>G (p.Tyr31292Cys) c.93794A>G (p.Tyr31265Cys) c.75557A>G (p.Tyr25186Cys) c.65411A>G (p.Tyr21804Cys) | |
| 2 | g.178533953T>G | CA349417036 | TTN,TTN-AS1 | c.94958A>C (p.Tyr31653Ser) c.76043A>C (p.Tyr25348Ser) c.75842A>C (p.Tyr25281Ser) c.75467A>C (p.Tyr25156Ser) c.102662A>C (p.Tyr34221Ser) c.97739A>C (p.Tyr32580Ser) n.446+10317T>G n.220-1779T>G c.101759A>C (p.Tyr33920Ser) c.75653A>C (p.Tyr25218Ser) c.75512A>C (p.Tyr25171Ser) c.101555A>C (p.Tyr33852Ser) c.96953A>C (p.Tyr32318Ser) c.96950A>C (p.Tyr32317Ser) c.93992A>C (p.Tyr31331Ser) c.75608A>C (p.Tyr25203Ser) c.97103A>C (p.Tyr32368Ser) c.97100A>C (p.Tyr32367Ser) c.96533A>C (p.Tyr32178Ser) c.93875A>C (p.Tyr31292Ser) c.93794A>C (p.Tyr31265Ser) c.75557A>C (p.Tyr25186Ser) c.65411A>C (p.Tyr21804Ser) | |
| 2 | g.178533954A>C | CA349417037 | TTN,TTN-AS1 | c.94957T>G (p.Tyr31653Asp) c.76042T>G (p.Tyr25348Asp) c.75841T>G (p.Tyr25281Asp) c.75466T>G (p.Tyr25156Asp) c.102661T>G (p.Tyr34221Asp) c.97738T>G (p.Tyr32580Asp) n.446+10318A>C n.220-1778A>C c.101758T>G (p.Tyr33920Asp) c.75652T>G (p.Tyr25218Asp) c.75511T>G (p.Tyr25171Asp) c.101554T>G (p.Tyr33852Asp) c.96952T>G (p.Tyr32318Asp) c.96949T>G (p.Tyr32317Asp) c.93991T>G (p.Tyr31331Asp) c.75607T>G (p.Tyr25203Asp) c.97102T>G (p.Tyr32368Asp) c.97099T>G (p.Tyr32367Asp) c.96532T>G (p.Tyr32178Asp) c.93874T>G (p.Tyr31292Asp) c.93793T>G (p.Tyr31265Asp) c.75556T>G (p.Tyr25186Asp) c.65410T>G (p.Tyr21804Asp) | |
| 2 | g.178533954A>G | CA349417038 | TTN,TTN-AS1 | c.94957T>C (p.Tyr31653His) c.76042T>C (p.Tyr25348His) c.75841T>C (p.Tyr25281His) c.75466T>C (p.Tyr25156His) c.102661T>C (p.Tyr34221His) c.97738T>C (p.Tyr32580His) n.446+10318A>G n.220-1778A>G c.101758T>C (p.Tyr33920His) c.75652T>C (p.Tyr25218His) c.75511T>C (p.Tyr25171His) c.101554T>C (p.Tyr33852His) c.96952T>C (p.Tyr32318His) c.96949T>C (p.Tyr32317His) c.93991T>C (p.Tyr31331His) c.75607T>C (p.Tyr25203His) c.97102T>C (p.Tyr32368His) c.97099T>C (p.Tyr32367His) c.96532T>C (p.Tyr32178His) c.93874T>C (p.Tyr31292His) c.93793T>C (p.Tyr31265His) c.75556T>C (p.Tyr25186His) c.65410T>C (p.Tyr21804His) | |
| 2 | g.178533954A>T | CA349417039 | TTN,TTN-AS1 | c.94957T>A (p.Tyr31653Asn) c.76042T>A (p.Tyr25348Asn) c.75841T>A (p.Tyr25281Asn) c.75466T>A (p.Tyr25156Asn) c.102661T>A (p.Tyr34221Asn) c.97738T>A (p.Tyr32580Asn) n.446+10318A>T n.220-1778A>T c.101758T>A (p.Tyr33920Asn) c.75652T>A (p.Tyr25218Asn) c.75511T>A (p.Tyr25171Asn) c.101554T>A (p.Tyr33852Asn) c.96952T>A (p.Tyr32318Asn) c.96949T>A (p.Tyr32317Asn) c.93991T>A (p.Tyr31331Asn) c.75607T>A (p.Tyr25203Asn) c.97102T>A (p.Tyr32368Asn) c.97099T>A (p.Tyr32367Asn) c.96532T>A (p.Tyr32178Asn) c.93874T>A (p.Tyr31292Asn) c.93793T>A (p.Tyr31265Asn) c.75556T>A (p.Tyr25186Asn) c.65410T>A (p.Tyr21804Asn) | |
| 2 | g.178533955A>C | CA430237275 | TTN,TTN-AS1 | c.94956T>G (p.Ser31652=) c.76041T>G (p.Ser25347=) c.75840T>G (p.Ser25280=) c.75465T>G (p.Ser25155=) c.102660T>G (p.Ser34220=) c.97737T>G (p.Ser32579=) n.446+10319A>C n.220-1777A>C c.101757T>G (p.Ser33919=) c.75651T>G (p.Ser25217=) c.75510T>G (p.Ser25170=) c.101553T>G (p.Ser33851=) c.96951T>G (p.Ser32317=) c.96948T>G (p.Ser32316=) c.93990T>G (p.Ser31330=) c.75606T>G (p.Ser25202=) c.97101T>G (p.Ser32367=) c.97098T>G (p.Ser32366=) c.96531T>G (p.Ser32177=) c.93873T>G (p.Ser31291=) c.93792T>G (p.Ser31264=) c.75555T>G (p.Ser25185=) c.65409T>G (p.Ser21803=) | |
| 2 | g.178533955A>G | CA430237276 | TTN,TTN-AS1 | c.94956T>C (p.Ser31652=) c.76041T>C (p.Ser25347=) c.75840T>C (p.Ser25280=) c.75465T>C (p.Ser25155=) c.102660T>C (p.Ser34220=) c.97737T>C (p.Ser32579=) n.446+10319A>G n.220-1777A>G c.101757T>C (p.Ser33919=) c.75651T>C (p.Ser25217=) c.75510T>C (p.Ser25170=) c.101553T>C (p.Ser33851=) c.96951T>C (p.Ser32317=) c.96948T>C (p.Ser32316=) c.93990T>C (p.Ser31330=) c.75606T>C (p.Ser25202=) c.97101T>C (p.Ser32367=) c.97098T>C (p.Ser32366=) c.96531T>C (p.Ser32177=) c.93873T>C (p.Ser31291=) c.93792T>C (p.Ser31264=) c.75555T>C (p.Ser25185=) c.65409T>C (p.Ser21803=) | |
| 2 | g.178533955A>T | CA430237277 | TTN,TTN-AS1 | c.94956T>A (p.Ser31652=) c.76041T>A (p.Ser25347=) c.75840T>A (p.Ser25280=) c.75465T>A (p.Ser25155=) c.102660T>A (p.Ser34220=) c.97737T>A (p.Ser32579=) n.446+10319A>T n.220-1777A>T c.101757T>A (p.Ser33919=) c.75651T>A (p.Ser25217=) c.75510T>A (p.Ser25170=) c.101553T>A (p.Ser33851=) c.96951T>A (p.Ser32317=) c.96948T>A (p.Ser32316=) c.93990T>A (p.Ser31330=) c.75606T>A (p.Ser25202=) c.97101T>A (p.Ser32367=) c.97098T>A (p.Ser32366=) c.96531T>A (p.Ser32177=) c.93873T>A (p.Ser31291=) c.93792T>A (p.Ser31264=) c.75555T>A (p.Ser25185=) c.65409T>A (p.Ser21803=) | |
| 2 | g.178533956G>A | CA349417040 | TTN,TTN-AS1 | c.94955C>T (p.Ser31652Phe) c.76040C>T (p.Ser25347Phe) c.75839C>T (p.Ser25280Phe) c.75464C>T (p.Ser25155Phe) c.102659C>T (p.Ser34220Phe) c.97736C>T (p.Ser32579Phe) n.446+10320G>A n.220-1776G>A c.101756C>T (p.Ser33919Phe) c.75650C>T (p.Ser25217Phe) c.75509C>T (p.Ser25170Phe) c.101552C>T (p.Ser33851Phe) c.96950C>T (p.Ser32317Phe) c.96947C>T (p.Ser32316Phe) c.93989C>T (p.Ser31330Phe) c.75605C>T (p.Ser25202Phe) c.97100C>T (p.Ser32367Phe) c.97097C>T (p.Ser32366Phe) c.96530C>T (p.Ser32177Phe) c.93872C>T (p.Ser31291Phe) c.93791C>T (p.Ser31264Phe) c.75554C>T (p.Ser25185Phe) c.65408C>T (p.Ser21803Phe) | ClinVar |
| 2 | g.178533956G>C | CA349417041 | TTN,TTN-AS1 | c.94955C>G (p.Ser31652Cys) c.76040C>G (p.Ser25347Cys) c.75839C>G (p.Ser25280Cys) c.75464C>G (p.Ser25155Cys) c.102659C>G (p.Ser34220Cys) c.97736C>G (p.Ser32579Cys) n.446+10320G>C n.220-1776G>C c.101756C>G (p.Ser33919Cys) c.75650C>G (p.Ser25217Cys) c.75509C>G (p.Ser25170Cys) c.101552C>G (p.Ser33851Cys) c.96950C>G (p.Ser32317Cys) c.96947C>G (p.Ser32316Cys) c.93989C>G (p.Ser31330Cys) c.75605C>G (p.Ser25202Cys) c.97100C>G (p.Ser32367Cys) c.97097C>G (p.Ser32366Cys) c.96530C>G (p.Ser32177Cys) c.93872C>G (p.Ser31291Cys) c.93791C>G (p.Ser31264Cys) c.75554C>G (p.Ser25185Cys) c.65408C>G (p.Ser21803Cys) | |
| 2 | g.178533956G>T | CA349417042 | TTN,TTN-AS1 | c.94955C>A (p.Ser31652Tyr) c.76040C>A (p.Ser25347Tyr) c.75839C>A (p.Ser25280Tyr) c.75464C>A (p.Ser25155Tyr) c.102659C>A (p.Ser34220Tyr) c.97736C>A (p.Ser32579Tyr) n.446+10320G>T n.220-1776G>T c.101756C>A (p.Ser33919Tyr) c.75650C>A (p.Ser25217Tyr) c.75509C>A (p.Ser25170Tyr) c.101552C>A (p.Ser33851Tyr) c.96950C>A (p.Ser32317Tyr) c.96947C>A (p.Ser32316Tyr) c.93989C>A (p.Ser31330Tyr) c.75605C>A (p.Ser25202Tyr) c.97100C>A (p.Ser32367Tyr) c.97097C>A (p.Ser32366Tyr) c.96530C>A (p.Ser32177Tyr) c.93872C>A (p.Ser31291Tyr) c.93791C>A (p.Ser31264Tyr) c.75554C>A (p.Ser25185Tyr) c.65408C>A (p.Ser21803Tyr) | |
| 2 | g.178533957A= | CA1310518880 | TTN,TTN-AS1 | c.94954T= (p.Ser31652=) c.76039T= (p.Ser25347=) c.75838T= (p.Ser25280=) c.75463T= (p.Ser25155=) c.102658T= (p.Ser34220=) c.97735T= (p.Ser32579=) n.446+10321A= n.220-1775A= c.101755T= (p.Ser33919=) c.75649T= (p.Ser25217=) c.75508T= (p.Ser25170=) c.101551T= (p.Ser33851=) c.96949T= (p.Ser32317=) c.96946T= (p.Ser32316=) c.93988T= (p.Ser31330=) c.75604T= (p.Ser25202=) c.97099T= (p.Ser32367=) c.97096T= (p.Ser32366=) c.96529T= (p.Ser32177=) c.93871T= (p.Ser31291=) c.93790T= (p.Ser31264=) c.75553T= (p.Ser25185=) c.65407T= (p.Ser21803=) | |
| 2 | g.178533957A>C | CA1985722 | TTN,TTN-AS1 | c.94954T>G (p.Ser31652Ala) c.76039T>G (p.Ser25347Ala) c.75838T>G (p.Ser25280Ala) c.75463T>G (p.Ser25155Ala) c.102658T>G (p.Ser34220Ala) c.97735T>G (p.Ser32579Ala) n.446+10321A>C n.220-1775A>C c.101755T>G (p.Ser33919Ala) c.75649T>G (p.Ser25217Ala) c.75508T>G (p.Ser25170Ala) c.101551T>G (p.Ser33851Ala) c.96949T>G (p.Ser32317Ala) c.96946T>G (p.Ser32316Ala) c.93988T>G (p.Ser31330Ala) c.75604T>G (p.Ser25202Ala) c.97099T>G (p.Ser32367Ala) c.97096T>G (p.Ser32366Ala) c.96529T>G (p.Ser32177Ala) c.93871T>G (p.Ser31291Ala) c.93790T>G (p.Ser31264Ala) c.75553T>G (p.Ser25185Ala) c.65407T>G (p.Ser21803Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178533957A>G | CA349417043 | TTN,TTN-AS1 | c.94954T>C (p.Ser31652Pro) c.76039T>C (p.Ser25347Pro) c.75838T>C (p.Ser25280Pro) c.75463T>C (p.Ser25155Pro) c.102658T>C (p.Ser34220Pro) c.97735T>C (p.Ser32579Pro) n.446+10321A>G n.220-1775A>G c.101755T>C (p.Ser33919Pro) c.75649T>C (p.Ser25217Pro) c.75508T>C (p.Ser25170Pro) c.101551T>C (p.Ser33851Pro) c.96949T>C (p.Ser32317Pro) c.96946T>C (p.Ser32316Pro) c.93988T>C (p.Ser31330Pro) c.75604T>C (p.Ser25202Pro) c.97099T>C (p.Ser32367Pro) c.97096T>C (p.Ser32366Pro) c.96529T>C (p.Ser32177Pro) c.93871T>C (p.Ser31291Pro) c.93790T>C (p.Ser31264Pro) c.75553T>C (p.Ser25185Pro) c.65407T>C (p.Ser21803Pro) | dbSNP |
| 2 | g.178533957A>T | CA349417044 | TTN,TTN-AS1 | c.94954T>A (p.Ser31652Thr) c.76039T>A (p.Ser25347Thr) c.75838T>A (p.Ser25280Thr) c.75463T>A (p.Ser25155Thr) c.102658T>A (p.Ser34220Thr) c.97735T>A (p.Ser32579Thr) n.446+10321A>T n.220-1775A>T c.101755T>A (p.Ser33919Thr) c.75649T>A (p.Ser25217Thr) c.75508T>A (p.Ser25170Thr) c.101551T>A (p.Ser33851Thr) c.96949T>A (p.Ser32317Thr) c.96946T>A (p.Ser32316Thr) c.93988T>A (p.Ser31330Thr) c.75604T>A (p.Ser25202Thr) c.97099T>A (p.Ser32367Thr) c.97096T>A (p.Ser32366Thr) c.96529T>A (p.Ser32177Thr) c.93871T>A (p.Ser31291Thr) c.93790T>A (p.Ser31264Thr) c.75553T>A (p.Ser25185Thr) c.65407T>A (p.Ser21803Thr) | |
| 2 | g.178533958A= | CA1310518881 | TTN,TTN-AS1 | c.94953T= (p.Ser31651=) c.76038T= (p.Ser25346=) c.75837T= (p.Ser25279=) c.75462T= (p.Ser25154=) c.102657T= (p.Ser34219=) c.97734T= (p.Ser32578=) n.446+10322A= n.220-1774A= c.101754T= (p.Ser33918=) c.75648T= (p.Ser25216=) c.75507T= (p.Ser25169=) c.101550T= (p.Ser33850=) c.96948T= (p.Ser32316=) c.96945T= (p.Ser32315=) c.93987T= (p.Ser31329=) c.75603T= (p.Ser25201=) c.97098T= (p.Ser32366=) c.97095T= (p.Ser32365=) c.96528T= (p.Ser32176=) c.93870T= (p.Ser31290=) c.93789T= (p.Ser31263=) c.75552T= (p.Ser25184=) c.65406T= (p.Ser21802=) | |
| 2 | g.178533958A>C | CA349417045 | TTN,TTN-AS1 | c.94953T>G (p.Ser31651Arg) c.76038T>G (p.Ser25346Arg) c.75837T>G (p.Ser25279Arg) c.75462T>G (p.Ser25154Arg) c.102657T>G (p.Ser34219Arg) c.97734T>G (p.Ser32578Arg) n.446+10322A>C n.220-1774A>C c.101754T>G (p.Ser33918Arg) c.75648T>G (p.Ser25216Arg) c.75507T>G (p.Ser25169Arg) c.101550T>G (p.Ser33850Arg) c.96948T>G (p.Ser32316Arg) c.96945T>G (p.Ser32315Arg) c.93987T>G (p.Ser31329Arg) c.75603T>G (p.Ser25201Arg) c.97098T>G (p.Ser32366Arg) c.97095T>G (p.Ser32365Arg) c.96528T>G (p.Ser32176Arg) c.93870T>G (p.Ser31290Arg) c.93789T>G (p.Ser31263Arg) c.75552T>G (p.Ser25184Arg) c.65406T>G (p.Ser21802Arg) | |
| 2 | g.178533958A>G | CA430237278 | TTN,TTN-AS1 | c.94953T>C (p.Ser31651=) c.76038T>C (p.Ser25346=) c.75837T>C (p.Ser25279=) c.75462T>C (p.Ser25154=) c.102657T>C (p.Ser34219=) c.97734T>C (p.Ser32578=) n.446+10322A>G n.220-1774A>G c.101754T>C (p.Ser33918=) c.75648T>C (p.Ser25216=) c.75507T>C (p.Ser25169=) c.101550T>C (p.Ser33850=) c.96948T>C (p.Ser32316=) c.96945T>C (p.Ser32315=) c.93987T>C (p.Ser31329=) c.75603T>C (p.Ser25201=) c.97098T>C (p.Ser32366=) c.97095T>C (p.Ser32365=) c.96528T>C (p.Ser32176=) c.93870T>C (p.Ser31290=) c.93789T>C (p.Ser31263=) c.75552T>C (p.Ser25184=) c.65406T>C (p.Ser21802=) | |
| 2 | g.178533958A>T | CA311139 | TTN,TTN-AS1 | c.94953T>A (p.Ser31651Arg) c.76038T>A (p.Ser25346Arg) c.75837T>A (p.Ser25279Arg) c.75462T>A (p.Ser25154Arg) c.102657T>A (p.Ser34219Arg) c.97734T>A (p.Ser32578Arg) n.446+10322A>T n.220-1774A>T c.101754T>A (p.Ser33918Arg) c.75648T>A (p.Ser25216Arg) c.75507T>A (p.Ser25169Arg) c.101550T>A (p.Ser33850Arg) c.96948T>A (p.Ser32316Arg) c.96945T>A (p.Ser32315Arg) c.93987T>A (p.Ser31329Arg) c.75603T>A (p.Ser25201Arg) c.97098T>A (p.Ser32366Arg) c.97095T>A (p.Ser32365Arg) c.96528T>A (p.Ser32176Arg) c.93870T>A (p.Ser31290Arg) c.93789T>A (p.Ser31263Arg) c.75552T>A (p.Ser25184Arg) c.65406T>A (p.Ser21802Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178533959C>A | CA349417046 | TTN,TTN-AS1 | c.94952G>T (p.Ser31651Ile) c.76037G>T (p.Ser25346Ile) c.75836G>T (p.Ser25279Ile) c.75461G>T (p.Ser25154Ile) c.102656G>T (p.Ser34219Ile) c.97733G>T (p.Ser32578Ile) n.446+10323C>A n.220-1773C>A c.101753G>T (p.Ser33918Ile) c.75647G>T (p.Ser25216Ile) c.75506G>T (p.Ser25169Ile) c.101549G>T (p.Ser33850Ile) c.96947G>T (p.Ser32316Ile) c.96944G>T (p.Ser32315Ile) c.93986G>T (p.Ser31329Ile) c.75602G>T (p.Ser25201Ile) c.97097G>T (p.Ser32366Ile) c.97094G>T (p.Ser32365Ile) c.96527G>T (p.Ser32176Ile) c.93869G>T (p.Ser31290Ile) c.93788G>T (p.Ser31263Ile) c.75551G>T (p.Ser25184Ile) c.65405G>T (p.Ser21802Ile) | COSMIC COSMIC COSMIC |
| 2 | g.178533959C>G | CA349417047 | TTN,TTN-AS1 | c.94952G>C (p.Ser31651Thr) c.76037G>C (p.Ser25346Thr) c.75836G>C (p.Ser25279Thr) c.75461G>C (p.Ser25154Thr) c.102656G>C (p.Ser34219Thr) c.97733G>C (p.Ser32578Thr) n.446+10323C>G n.220-1773C>G c.101753G>C (p.Ser33918Thr) c.75647G>C (p.Ser25216Thr) c.75506G>C (p.Ser25169Thr) c.101549G>C (p.Ser33850Thr) c.96947G>C (p.Ser32316Thr) c.96944G>C (p.Ser32315Thr) c.93986G>C (p.Ser31329Thr) c.75602G>C (p.Ser25201Thr) c.97097G>C (p.Ser32366Thr) c.97094G>C (p.Ser32365Thr) c.96527G>C (p.Ser32176Thr) c.93869G>C (p.Ser31290Thr) c.93788G>C (p.Ser31263Thr) c.75551G>C (p.Ser25184Thr) c.65405G>C (p.Ser21802Thr) | |
| 2 | g.178533959C>T | CA349417048 | TTN,TTN-AS1 | c.94952G>A (p.Ser31651Asn) c.76037G>A (p.Ser25346Asn) c.75836G>A (p.Ser25279Asn) c.75461G>A (p.Ser25154Asn) c.102656G>A (p.Ser34219Asn) c.97733G>A (p.Ser32578Asn) n.446+10323C>T n.220-1773C>T c.101753G>A (p.Ser33918Asn) c.75647G>A (p.Ser25216Asn) c.75506G>A (p.Ser25169Asn) c.101549G>A (p.Ser33850Asn) c.96947G>A (p.Ser32316Asn) c.96944G>A (p.Ser32315Asn) c.93986G>A (p.Ser31329Asn) c.75602G>A (p.Ser25201Asn) c.97097G>A (p.Ser32366Asn) c.97094G>A (p.Ser32365Asn) c.96527G>A (p.Ser32176Asn) c.93869G>A (p.Ser31290Asn) c.93788G>A (p.Ser31263Asn) c.75551G>A (p.Ser25184Asn) c.65405G>A (p.Ser21802Asn) | |
| 2 | g.178533960T>A | CA349417049 | TTN,TTN-AS1 | c.94951A>T (p.Ser31651Cys) c.76036A>T (p.Ser25346Cys) c.75835A>T (p.Ser25279Cys) c.75460A>T (p.Ser25154Cys) c.102655A>T (p.Ser34219Cys) c.97732A>T (p.Ser32578Cys) n.446+10324T>A n.220-1772T>A c.101752A>T (p.Ser33918Cys) c.75646A>T (p.Ser25216Cys) c.75505A>T (p.Ser25169Cys) c.101548A>T (p.Ser33850Cys) c.96946A>T (p.Ser32316Cys) c.96943A>T (p.Ser32315Cys) c.93985A>T (p.Ser31329Cys) c.75601A>T (p.Ser25201Cys) c.97096A>T (p.Ser32366Cys) c.97093A>T (p.Ser32365Cys) c.96526A>T (p.Ser32176Cys) c.93868A>T (p.Ser31290Cys) c.93787A>T (p.Ser31263Cys) c.75550A>T (p.Ser25184Cys) c.65404A>T (p.Ser21802Cys) | |
| 2 | g.178533960T>C | CA349417050 | TTN,TTN-AS1 | c.94951A>G (p.Ser31651Gly) c.76036A>G (p.Ser25346Gly) c.75835A>G (p.Ser25279Gly) c.75460A>G (p.Ser25154Gly) c.102655A>G (p.Ser34219Gly) c.97732A>G (p.Ser32578Gly) n.446+10324T>C n.220-1772T>C c.101752A>G (p.Ser33918Gly) c.75646A>G (p.Ser25216Gly) c.75505A>G (p.Ser25169Gly) c.101548A>G (p.Ser33850Gly) c.96946A>G (p.Ser32316Gly) c.96943A>G (p.Ser32315Gly) c.93985A>G (p.Ser31329Gly) c.75601A>G (p.Ser25201Gly) c.97096A>G (p.Ser32366Gly) c.97093A>G (p.Ser32365Gly) c.96526A>G (p.Ser32176Gly) c.93868A>G (p.Ser31290Gly) c.93787A>G (p.Ser31263Gly) c.75550A>G (p.Ser25184Gly) c.65404A>G (p.Ser21802Gly) | gnomAD v4 |
| 2 | g.178533960T>G | CA349417051 | TTN,TTN-AS1 | c.94951A>C (p.Ser31651Arg) c.76036A>C (p.Ser25346Arg) c.75835A>C (p.Ser25279Arg) c.75460A>C (p.Ser25154Arg) c.102655A>C (p.Ser34219Arg) c.97732A>C (p.Ser32578Arg) n.446+10324T>G n.220-1772T>G c.101752A>C (p.Ser33918Arg) c.75646A>C (p.Ser25216Arg) c.75505A>C (p.Ser25169Arg) c.101548A>C (p.Ser33850Arg) c.96946A>C (p.Ser32316Arg) c.96943A>C (p.Ser32315Arg) c.93985A>C (p.Ser31329Arg) c.75601A>C (p.Ser25201Arg) c.97096A>C (p.Ser32366Arg) c.97093A>C (p.Ser32365Arg) c.96526A>C (p.Ser32176Arg) c.93868A>C (p.Ser31290Arg) c.93787A>C (p.Ser31263Arg) c.75550A>C (p.Ser25184Arg) c.65404A>C (p.Ser21802Arg) | |
| 2 | g.178533961G>A | CA430237279 | TTN,TTN-AS1 | c.94950C>T (p.Asp31650=) c.76035C>T (p.Asp25345=) c.75834C>T (p.Asp25278=) c.75459C>T (p.Asp25153=) c.102654C>T (p.Asp34218=) c.97731C>T (p.Asp32577=) n.446+10325G>A n.220-1771G>A c.101751C>T (p.Asp33917=) c.75645C>T (p.Asp25215=) c.75504C>T (p.Asp25168=) c.101547C>T (p.Asp33849=) c.96945C>T (p.Asp32315=) c.96942C>T (p.Asp32314=) c.93984C>T (p.Asp31328=) c.75600C>T (p.Asp25200=) c.97095C>T (p.Asp32365=) c.97092C>T (p.Asp32364=) c.96525C>T (p.Asp32175=) c.93867C>T (p.Asp31289=) c.93786C>T (p.Asp31262=) c.75549C>T (p.Asp25183=) c.65403C>T (p.Asp21801=) | gnomAD v4 |
| 2 | g.178533961G>C | CA349417052 | TTN,TTN-AS1 | c.94950C>G (p.Asp31650Glu) c.76035C>G (p.Asp25345Glu) c.75834C>G (p.Asp25278Glu) c.75459C>G (p.Asp25153Glu) c.102654C>G (p.Asp34218Glu) c.97731C>G (p.Asp32577Glu) n.446+10325G>C n.220-1771G>C c.101751C>G (p.Asp33917Glu) c.75645C>G (p.Asp25215Glu) c.75504C>G (p.Asp25168Glu) c.101547C>G (p.Asp33849Glu) c.96945C>G (p.Asp32315Glu) c.96942C>G (p.Asp32314Glu) c.93984C>G (p.Asp31328Glu) c.75600C>G (p.Asp25200Glu) c.97095C>G (p.Asp32365Glu) c.97092C>G (p.Asp32364Glu) c.96525C>G (p.Asp32175Glu) c.93867C>G (p.Asp31289Glu) c.93786C>G (p.Asp31262Glu) c.75549C>G (p.Asp25183Glu) c.65403C>G (p.Asp21801Glu) | |
| 2 | g.178533961G>T | CA349417053 | TTN,TTN-AS1 | c.94950C>A (p.Asp31650Glu) c.76035C>A (p.Asp25345Glu) c.75834C>A (p.Asp25278Glu) c.75459C>A (p.Asp25153Glu) c.102654C>A (p.Asp34218Glu) c.97731C>A (p.Asp32577Glu) n.446+10325G>T n.220-1771G>T c.101751C>A (p.Asp33917Glu) c.75645C>A (p.Asp25215Glu) c.75504C>A (p.Asp25168Glu) c.101547C>A (p.Asp33849Glu) c.96945C>A (p.Asp32315Glu) c.96942C>A (p.Asp32314Glu) c.93984C>A (p.Asp31328Glu) c.75600C>A (p.Asp25200Glu) c.97095C>A (p.Asp32365Glu) c.97092C>A (p.Asp32364Glu) c.96525C>A (p.Asp32175Glu) c.93867C>A (p.Asp31289Glu) c.93786C>A (p.Asp31262Glu) c.75549C>A (p.Asp25183Glu) c.65403C>A (p.Asp21801Glu) | |
| 2 | g.178533962T>A | CA349417054 | TTN,TTN-AS1 | c.94949A>T (p.Asp31650Val) c.76034A>T (p.Asp25345Val) c.75833A>T (p.Asp25278Val) c.75458A>T (p.Asp25153Val) c.102653A>T (p.Asp34218Val) c.97730A>T (p.Asp32577Val) n.446+10326T>A n.220-1770T>A c.101750A>T (p.Asp33917Val) c.75644A>T (p.Asp25215Val) c.75503A>T (p.Asp25168Val) c.101546A>T (p.Asp33849Val) c.96944A>T (p.Asp32315Val) c.96941A>T (p.Asp32314Val) c.93983A>T (p.Asp31328Val) c.75599A>T (p.Asp25200Val) c.97094A>T (p.Asp32365Val) c.97091A>T (p.Asp32364Val) c.96524A>T (p.Asp32175Val) c.93866A>T (p.Asp31289Val) c.93785A>T (p.Asp31262Val) c.75548A>T (p.Asp25183Val) c.65402A>T (p.Asp21801Val) | |
| 2 | g.178533962T>C | CA349417055 | TTN,TTN-AS1 | c.94949A>G (p.Asp31650Gly) c.76034A>G (p.Asp25345Gly) c.75833A>G (p.Asp25278Gly) c.75458A>G (p.Asp25153Gly) c.102653A>G (p.Asp34218Gly) c.97730A>G (p.Asp32577Gly) n.446+10326T>C n.220-1770T>C c.101750A>G (p.Asp33917Gly) c.75644A>G (p.Asp25215Gly) c.75503A>G (p.Asp25168Gly) c.101546A>G (p.Asp33849Gly) c.96944A>G (p.Asp32315Gly) c.96941A>G (p.Asp32314Gly) c.93983A>G (p.Asp31328Gly) c.75599A>G (p.Asp25200Gly) c.97094A>G (p.Asp32365Gly) c.97091A>G (p.Asp32364Gly) c.96524A>G (p.Asp32175Gly) c.93866A>G (p.Asp31289Gly) c.93785A>G (p.Asp31262Gly) c.75548A>G (p.Asp25183Gly) c.65402A>G (p.Asp21801Gly) | |
| 2 | g.178533962T>G | CA349417056 | TTN,TTN-AS1 | c.94949A>C (p.Asp31650Ala) c.76034A>C (p.Asp25345Ala) c.75833A>C (p.Asp25278Ala) c.75458A>C (p.Asp25153Ala) c.102653A>C (p.Asp34218Ala) c.97730A>C (p.Asp32577Ala) n.446+10326T>G n.220-1770T>G c.101750A>C (p.Asp33917Ala) c.75644A>C (p.Asp25215Ala) c.75503A>C (p.Asp25168Ala) c.101546A>C (p.Asp33849Ala) c.96944A>C (p.Asp32315Ala) c.96941A>C (p.Asp32314Ala) c.93983A>C (p.Asp31328Ala) c.75599A>C (p.Asp25200Ala) c.97094A>C (p.Asp32365Ala) c.97091A>C (p.Asp32364Ala) c.96524A>C (p.Asp32175Ala) c.93866A>C (p.Asp31289Ala) c.93785A>C (p.Asp31262Ala) c.75548A>C (p.Asp25183Ala) c.65402A>C (p.Asp21801Ala) | |
| 2 | g.178533963C>A | CA349417057 | TTN,TTN-AS1 | c.94948G>T (p.Asp31650Tyr) c.76033G>T (p.Asp25345Tyr) c.75832G>T (p.Asp25278Tyr) c.75457G>T (p.Asp25153Tyr) c.102652G>T (p.Asp34218Tyr) c.97729G>T (p.Asp32577Tyr) n.446+10327C>A n.220-1769C>A c.101749G>T (p.Asp33917Tyr) c.75643G>T (p.Asp25215Tyr) c.75502G>T (p.Asp25168Tyr) c.101545G>T (p.Asp33849Tyr) c.96943G>T (p.Asp32315Tyr) c.96940G>T (p.Asp32314Tyr) c.93982G>T (p.Asp31328Tyr) c.75598G>T (p.Asp25200Tyr) c.97093G>T (p.Asp32365Tyr) c.97090G>T (p.Asp32364Tyr) c.96523G>T (p.Asp32175Tyr) c.93865G>T (p.Asp31289Tyr) c.93784G>T (p.Asp31262Tyr) c.75547G>T (p.Asp25183Tyr) c.65401G>T (p.Asp21801Tyr) | |
| 2 | g.178533963C>G | CA349417058 | TTN,TTN-AS1 | c.94948G>C (p.Asp31650His) c.76033G>C (p.Asp25345His) c.75832G>C (p.Asp25278His) c.75457G>C (p.Asp25153His) c.102652G>C (p.Asp34218His) c.97729G>C (p.Asp32577His) n.446+10327C>G n.220-1769C>G c.101749G>C (p.Asp33917His) c.75643G>C (p.Asp25215His) c.75502G>C (p.Asp25168His) c.101545G>C (p.Asp33849His) c.96943G>C (p.Asp32315His) c.96940G>C (p.Asp32314His) c.93982G>C (p.Asp31328His) c.75598G>C (p.Asp25200His) c.97093G>C (p.Asp32365His) c.97090G>C (p.Asp32364His) c.96523G>C (p.Asp32175His) c.93865G>C (p.Asp31289His) c.93784G>C (p.Asp31262His) c.75547G>C (p.Asp25183His) c.65401G>C (p.Asp21801His) | |
| 2 | g.178533963C>T | CA349417059 | TTN,TTN-AS1 | c.94948G>A (p.Asp31650Asn) c.76033G>A (p.Asp25345Asn) c.75832G>A (p.Asp25278Asn) c.75457G>A (p.Asp25153Asn) c.102652G>A (p.Asp34218Asn) c.97729G>A (p.Asp32577Asn) n.446+10327C>T n.220-1769C>T c.101749G>A (p.Asp33917Asn) c.75643G>A (p.Asp25215Asn) c.75502G>A (p.Asp25168Asn) c.101545G>A (p.Asp33849Asn) c.96943G>A (p.Asp32315Asn) c.96940G>A (p.Asp32314Asn) c.93982G>A (p.Asp31328Asn) c.75598G>A (p.Asp25200Asn) c.97093G>A (p.Asp32365Asn) c.97090G>A (p.Asp32364Asn) c.96523G>A (p.Asp32175Asn) c.93865G>A (p.Asp31289Asn) c.93784G>A (p.Asp31262Asn) c.75547G>A (p.Asp25183Asn) c.65401G>A (p.Asp21801Asn) | |
| 2 | g.178533964T>A | CA349417060 | TTN,TTN-AS1 | c.94947A>T (p.Glu31649Asp) c.76032A>T (p.Glu25344Asp) c.75831A>T (p.Glu25277Asp) c.75456A>T (p.Glu25152Asp) c.102651A>T (p.Glu34217Asp) c.97728A>T (p.Glu32576Asp) n.446+10328T>A n.220-1768T>A c.101748A>T (p.Glu33916Asp) c.75642A>T (p.Glu25214Asp) c.75501A>T (p.Glu25167Asp) c.101544A>T (p.Glu33848Asp) c.96942A>T (p.Glu32314Asp) c.96939A>T (p.Glu32313Asp) c.93981A>T (p.Glu31327Asp) c.75597A>T (p.Glu25199Asp) c.97092A>T (p.Glu32364Asp) c.97089A>T (p.Glu32363Asp) c.96522A>T (p.Glu32174Asp) c.93864A>T (p.Glu31288Asp) c.93783A>T (p.Glu31261Asp) c.75546A>T (p.Glu25182Asp) c.65400A>T (p.Glu21800Asp) | |
| 2 | g.178533964T>C | CA430237280 | TTN,TTN-AS1 | c.94947A>G (p.Glu31649=) c.76032A>G (p.Glu25344=) c.75831A>G (p.Glu25277=) c.75456A>G (p.Glu25152=) c.102651A>G (p.Glu34217=) c.97728A>G (p.Glu32576=) n.446+10328T>C n.220-1768T>C c.101748A>G (p.Glu33916=) c.75642A>G (p.Glu25214=) c.75501A>G (p.Glu25167=) c.101544A>G (p.Glu33848=) c.96942A>G (p.Glu32314=) c.96939A>G (p.Glu32313=) c.93981A>G (p.Glu31327=) c.75597A>G (p.Glu25199=) c.97092A>G (p.Glu32364=) c.97089A>G (p.Glu32363=) c.96522A>G (p.Glu32174=) c.93864A>G (p.Glu31288=) c.93783A>G (p.Glu31261=) c.75546A>G (p.Glu25182=) c.65400A>G (p.Glu21800=) | |
| 2 | g.178533964T>G | CA349417061 | TTN,TTN-AS1 | c.94947A>C (p.Glu31649Asp) c.76032A>C (p.Glu25344Asp) c.75831A>C (p.Glu25277Asp) c.75456A>C (p.Glu25152Asp) c.102651A>C (p.Glu34217Asp) c.97728A>C (p.Glu32576Asp) n.446+10328T>G n.220-1768T>G c.101748A>C (p.Glu33916Asp) c.75642A>C (p.Glu25214Asp) c.75501A>C (p.Glu25167Asp) c.101544A>C (p.Glu33848Asp) c.96942A>C (p.Glu32314Asp) c.96939A>C (p.Glu32313Asp) c.93981A>C (p.Glu31327Asp) c.75597A>C (p.Glu25199Asp) c.97092A>C (p.Glu32364Asp) c.97089A>C (p.Glu32363Asp) c.96522A>C (p.Glu32174Asp) c.93864A>C (p.Glu31288Asp) c.93783A>C (p.Glu31261Asp) c.75546A>C (p.Glu25182Asp) c.65400A>C (p.Glu21800Asp) | |
| 2 | g.178533965T>A | CA349417062 | TTN,TTN-AS1 | c.94946A>T (p.Glu31649Val) c.76031A>T (p.Glu25344Val) c.75830A>T (p.Glu25277Val) c.75455A>T (p.Glu25152Val) c.102650A>T (p.Glu34217Val) c.97727A>T (p.Glu32576Val) n.446+10329T>A n.220-1767T>A c.101747A>T (p.Glu33916Val) c.75641A>T (p.Glu25214Val) c.75500A>T (p.Glu25167Val) c.101543A>T (p.Glu33848Val) c.96941A>T (p.Glu32314Val) c.96938A>T (p.Glu32313Val) c.93980A>T (p.Glu31327Val) c.75596A>T (p.Glu25199Val) c.97091A>T (p.Glu32364Val) c.97088A>T (p.Glu32363Val) c.96521A>T (p.Glu32174Val) c.93863A>T (p.Glu31288Val) c.93782A>T (p.Glu31261Val) c.75545A>T (p.Glu25182Val) c.65399A>T (p.Glu21800Val) | |
| 2 | g.178533965T>C | CA349417063 | TTN,TTN-AS1 | c.94946A>G (p.Glu31649Gly) c.76031A>G (p.Glu25344Gly) c.75830A>G (p.Glu25277Gly) c.75455A>G (p.Glu25152Gly) c.102650A>G (p.Glu34217Gly) c.97727A>G (p.Glu32576Gly) n.446+10329T>C n.220-1767T>C c.101747A>G (p.Glu33916Gly) c.75641A>G (p.Glu25214Gly) c.75500A>G (p.Glu25167Gly) c.101543A>G (p.Glu33848Gly) c.96941A>G (p.Glu32314Gly) c.96938A>G (p.Glu32313Gly) c.93980A>G (p.Glu31327Gly) c.75596A>G (p.Glu25199Gly) c.97091A>G (p.Glu32364Gly) c.97088A>G (p.Glu32363Gly) c.96521A>G (p.Glu32174Gly) c.93863A>G (p.Glu31288Gly) c.93782A>G (p.Glu31261Gly) c.75545A>G (p.Glu25182Gly) c.65399A>G (p.Glu21800Gly) | |
| 2 | g.178533965T>G | CA349417064 | TTN,TTN-AS1 | c.94946A>C (p.Glu31649Ala) c.76031A>C (p.Glu25344Ala) c.75830A>C (p.Glu25277Ala) c.75455A>C (p.Glu25152Ala) c.102650A>C (p.Glu34217Ala) c.97727A>C (p.Glu32576Ala) n.446+10329T>G n.220-1767T>G c.101747A>C (p.Glu33916Ala) c.75641A>C (p.Glu25214Ala) c.75500A>C (p.Glu25167Ala) c.101543A>C (p.Glu33848Ala) c.96941A>C (p.Glu32314Ala) c.96938A>C (p.Glu32313Ala) c.93980A>C (p.Glu31327Ala) c.75596A>C (p.Glu25199Ala) c.97091A>C (p.Glu32364Ala) c.97088A>C (p.Glu32363Ala) c.96521A>C (p.Glu32174Ala) c.93863A>C (p.Glu31288Ala) c.93782A>C (p.Glu31261Ala) c.75545A>C (p.Glu25182Ala) c.65399A>C (p.Glu21800Ala) | |
| 2 | g.178533966C>A | CA349417065 | TTN,TTN-AS1 | c.94945G>T (p.Glu31649Ter) c.76030G>T (p.Glu25344Ter) c.75829G>T (p.Glu25277Ter) c.75454G>T (p.Glu25152Ter) c.102649G>T (p.Glu34217Ter) c.97726G>T (p.Glu32576Ter) n.446+10330C>A n.220-1766C>A c.101746G>T (p.Glu33916Ter) c.75640G>T (p.Glu25214Ter) c.75499G>T (p.Glu25167Ter) c.101542G>T (p.Glu33848Ter) c.96940G>T (p.Glu32314Ter) c.96937G>T (p.Glu32313Ter) c.93979G>T (p.Glu31327Ter) c.75595G>T (p.Glu25199Ter) c.97090G>T (p.Glu32364Ter) c.97087G>T (p.Glu32363Ter) c.96520G>T (p.Glu32174Ter) c.93862G>T (p.Glu31288Ter) c.93781G>T (p.Glu31261Ter) c.75544G>T (p.Glu25182Ter) c.65398G>T (p.Glu21800Ter) | |
| 2 | g.178533966C>G | CA349417066 | TTN,TTN-AS1 | c.94945G>C (p.Glu31649Gln) c.76030G>C (p.Glu25344Gln) c.75829G>C (p.Glu25277Gln) c.75454G>C (p.Glu25152Gln) c.102649G>C (p.Glu34217Gln) c.97726G>C (p.Glu32576Gln) n.446+10330C>G n.220-1766C>G c.101746G>C (p.Glu33916Gln) c.75640G>C (p.Glu25214Gln) c.75499G>C (p.Glu25167Gln) c.101542G>C (p.Glu33848Gln) c.96940G>C (p.Glu32314Gln) c.96937G>C (p.Glu32313Gln) c.93979G>C (p.Glu31327Gln) c.75595G>C (p.Glu25199Gln) c.97090G>C (p.Glu32364Gln) c.97087G>C (p.Glu32363Gln) c.96520G>C (p.Glu32174Gln) c.93862G>C (p.Glu31288Gln) c.93781G>C (p.Glu31261Gln) c.75544G>C (p.Glu25182Gln) c.65398G>C (p.Glu21800Gln) | |
| 2 | g.178533966C>T | CA349417067 | TTN,TTN-AS1 | c.94945G>A (p.Glu31649Lys) c.76030G>A (p.Glu25344Lys) c.75829G>A (p.Glu25277Lys) c.75454G>A (p.Glu25152Lys) c.102649G>A (p.Glu34217Lys) c.97726G>A (p.Glu32576Lys) n.446+10330C>T n.220-1766C>T c.101746G>A (p.Glu33916Lys) c.75640G>A (p.Glu25214Lys) c.75499G>A (p.Glu25167Lys) c.101542G>A (p.Glu33848Lys) c.96940G>A (p.Glu32314Lys) c.96937G>A (p.Glu32313Lys) c.93979G>A (p.Glu31327Lys) c.75595G>A (p.Glu25199Lys) c.97090G>A (p.Glu32364Lys) c.97087G>A (p.Glu32363Lys) c.96520G>A (p.Glu32174Lys) c.93862G>A (p.Glu31288Lys) c.93781G>A (p.Glu31261Lys) c.75544G>A (p.Glu25182Lys) c.65398G>A (p.Glu21800Lys) | ClinVar COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178533967A>C | CA430237281 | TTN,TTN-AS1 | c.94944T>G (p.Gly31648=) c.76029T>G (p.Gly25343=) c.75828T>G (p.Gly25276=) c.75453T>G (p.Gly25151=) c.102648T>G (p.Gly34216=) c.97725T>G (p.Gly32575=) n.446+10331A>C n.220-1765A>C c.101745T>G (p.Gly33915=) c.75639T>G (p.Gly25213=) c.75498T>G (p.Gly25166=) c.101541T>G (p.Gly33847=) c.96939T>G (p.Gly32313=) c.96936T>G (p.Gly32312=) c.93978T>G (p.Gly31326=) c.75594T>G (p.Gly25198=) c.97089T>G (p.Gly32363=) c.97086T>G (p.Gly32362=) c.96519T>G (p.Gly32173=) c.93861T>G (p.Gly31287=) c.93780T>G (p.Gly31260=) c.75543T>G (p.Gly25181=) c.65397T>G (p.Gly21799=) | |
| 2 | g.178533967A>G | CA430237282 | TTN,TTN-AS1 | c.94944T>C (p.Gly31648=) c.76029T>C (p.Gly25343=) c.75828T>C (p.Gly25276=) c.75453T>C (p.Gly25151=) c.102648T>C (p.Gly34216=) c.97725T>C (p.Gly32575=) n.446+10331A>G n.220-1765A>G c.101745T>C (p.Gly33915=) c.75639T>C (p.Gly25213=) c.75498T>C (p.Gly25166=) c.101541T>C (p.Gly33847=) c.96939T>C (p.Gly32313=) c.96936T>C (p.Gly32312=) c.93978T>C (p.Gly31326=) c.75594T>C (p.Gly25198=) c.97089T>C (p.Gly32363=) c.97086T>C (p.Gly32362=) c.96519T>C (p.Gly32173=) c.93861T>C (p.Gly31287=) c.93780T>C (p.Gly31260=) c.75543T>C (p.Gly25181=) c.65397T>C (p.Gly21799=) | ClinVar COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178533967A>T | CA430237283 | TTN,TTN-AS1 | c.94944T>A (p.Gly31648=) c.76029T>A (p.Gly25343=) c.75828T>A (p.Gly25276=) c.75453T>A (p.Gly25151=) c.102648T>A (p.Gly34216=) c.97725T>A (p.Gly32575=) n.446+10331A>T n.220-1765A>T c.101745T>A (p.Gly33915=) c.75639T>A (p.Gly25213=) c.75498T>A (p.Gly25166=) c.101541T>A (p.Gly33847=) c.96939T>A (p.Gly32313=) c.96936T>A (p.Gly32312=) c.93978T>A (p.Gly31326=) c.75594T>A (p.Gly25198=) c.97089T>A (p.Gly32363=) c.97086T>A (p.Gly32362=) c.96519T>A (p.Gly32173=) c.93861T>A (p.Gly31287=) c.93780T>A (p.Gly31260=) c.75543T>A (p.Gly25181=) c.65397T>A (p.Gly21799=) | |
| 2 | g.178533968C>A | CA349417068 | TTN,TTN-AS1 | c.94943G>T (p.Gly31648Val) c.76028G>T (p.Gly25343Val) c.75827G>T (p.Gly25276Val) c.75452G>T (p.Gly25151Val) c.102647G>T (p.Gly34216Val) c.97724G>T (p.Gly32575Val) n.446+10332C>A n.220-1764C>A c.101744G>T (p.Gly33915Val) c.75638G>T (p.Gly25213Val) c.75497G>T (p.Gly25166Val) c.101540G>T (p.Gly33847Val) c.96938G>T (p.Gly32313Val) c.96935G>T (p.Gly32312Val) c.93977G>T (p.Gly31326Val) c.75593G>T (p.Gly25198Val) c.97088G>T (p.Gly32363Val) c.97085G>T (p.Gly32362Val) c.96518G>T (p.Gly32173Val) c.93860G>T (p.Gly31287Val) c.93779G>T (p.Gly31260Val) c.75542G>T (p.Gly25181Val) c.65396G>T (p.Gly21799Val) | |
| 2 | g.178533968C>G | CA349417069 | TTN,TTN-AS1 | c.94943G>C (p.Gly31648Ala) c.76028G>C (p.Gly25343Ala) c.75827G>C (p.Gly25276Ala) c.75452G>C (p.Gly25151Ala) c.102647G>C (p.Gly34216Ala) c.97724G>C (p.Gly32575Ala) n.446+10332C>G n.220-1764C>G c.101744G>C (p.Gly33915Ala) c.75638G>C (p.Gly25213Ala) c.75497G>C (p.Gly25166Ala) c.101540G>C (p.Gly33847Ala) c.96938G>C (p.Gly32313Ala) c.96935G>C (p.Gly32312Ala) c.93977G>C (p.Gly31326Ala) c.75593G>C (p.Gly25198Ala) c.97088G>C (p.Gly32363Ala) c.97085G>C (p.Gly32362Ala) c.96518G>C (p.Gly32173Ala) c.93860G>C (p.Gly31287Ala) c.93779G>C (p.Gly31260Ala) c.75542G>C (p.Gly25181Ala) c.65396G>C (p.Gly21799Ala) | |
| 2 | g.178533968C>T | CA349417070 | TTN,TTN-AS1 | c.94943G>A (p.Gly31648Asp) c.76028G>A (p.Gly25343Asp) c.75827G>A (p.Gly25276Asp) c.75452G>A (p.Gly25151Asp) c.102647G>A (p.Gly34216Asp) c.97724G>A (p.Gly32575Asp) n.446+10332C>T n.220-1764C>T c.101744G>A (p.Gly33915Asp) c.75638G>A (p.Gly25213Asp) c.75497G>A (p.Gly25166Asp) c.101540G>A (p.Gly33847Asp) c.96938G>A (p.Gly32313Asp) c.96935G>A (p.Gly32312Asp) c.93977G>A (p.Gly31326Asp) c.75593G>A (p.Gly25198Asp) c.97088G>A (p.Gly32363Asp) c.97085G>A (p.Gly32362Asp) c.96518G>A (p.Gly32173Asp) c.93860G>A (p.Gly31287Asp) c.93779G>A (p.Gly31260Asp) c.75542G>A (p.Gly25181Asp) c.65396G>A (p.Gly21799Asp) | ClinVar gnomAD v4 |