| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178573966G>A | CA1990536 | TTN,TTN-AS1 | c.64462C>T (p.Arg21488Cys) c.45547C>T (p.Arg15183Cys) c.45346C>T (p.Arg15116Cys) c.44971C>T (p.Arg14991Cys) c.72166C>T (p.Arg24056Cys) c.67243C>T (p.Arg22415Cys) n.596+2517G>A n.2044-8606G>A c.71263C>T (p.Arg23755Cys) c.45157C>T (p.Arg15053Cys) c.45016C>T (p.Arg15006Cys) c.71059C>T (p.Arg23687Cys) c.66457C>T (p.Arg22153Cys) c.66454C>T (p.Arg22152Cys) c.63496C>T (p.Arg21166Cys) c.45112C>T (p.Arg15038Cys) c.66607C>T (p.Arg22203Cys) c.66604C>T (p.Arg22202Cys) c.66037C>T (p.Arg22013Cys) c.63379C>T (p.Arg21127Cys) c.63298C>T (p.Arg21100Cys) c.45061C>T (p.Arg15021Cys) c.34915C>T (p.Arg11639Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178573966G>C | CA349648250 | TTN,TTN-AS1 | c.64462C>G (p.Arg21488Gly) c.45547C>G (p.Arg15183Gly) c.45346C>G (p.Arg15116Gly) c.44971C>G (p.Arg14991Gly) c.72166C>G (p.Arg24056Gly) c.67243C>G (p.Arg22415Gly) n.596+2517G>C n.2044-8606G>C c.71263C>G (p.Arg23755Gly) c.45157C>G (p.Arg15053Gly) c.45016C>G (p.Arg15006Gly) c.71059C>G (p.Arg23687Gly) c.66457C>G (p.Arg22153Gly) c.66454C>G (p.Arg22152Gly) c.63496C>G (p.Arg21166Gly) c.45112C>G (p.Arg15038Gly) c.66607C>G (p.Arg22203Gly) c.66604C>G (p.Arg22202Gly) c.66037C>G (p.Arg22013Gly) c.63379C>G (p.Arg21127Gly) c.63298C>G (p.Arg21100Gly) c.45061C>G (p.Arg15021Gly) c.34915C>G (p.Arg11639Gly) | gnomAD v4 |
| 2 | g.178573966G= | CA1310532324 | TTN,TTN-AS1 | c.64462C= (p.Arg21488=) c.45547C= (p.Arg15183=) c.45346C= (p.Arg15116=) c.44971C= (p.Arg14991=) c.72166C= (p.Arg24056=) c.67243C= (p.Arg22415=) n.596+2517G= n.2044-8606G= c.71263C= (p.Arg23755=) c.45157C= (p.Arg15053=) c.45016C= (p.Arg15006=) c.71059C= (p.Arg23687=) c.66457C= (p.Arg22153=) c.66454C= (p.Arg22152=) c.63496C= (p.Arg21166=) c.45112C= (p.Arg15038=) c.66607C= (p.Arg22203=) c.66604C= (p.Arg22202=) c.66037C= (p.Arg22013=) c.63379C= (p.Arg21127=) c.63298C= (p.Arg21100=) c.45061C= (p.Arg15021=) c.34915C= (p.Arg11639=) | |
| 2 | g.178573966G>T | CA10611620 | TTN,TTN-AS1 | c.64462C>A (p.Arg21488Ser) c.45547C>A (p.Arg15183Ser) c.45346C>A (p.Arg15116Ser) c.44971C>A (p.Arg14991Ser) c.72166C>A (p.Arg24056Ser) c.67243C>A (p.Arg22415Ser) n.596+2517G>T n.2044-8606G>T c.71263C>A (p.Arg23755Ser) c.45157C>A (p.Arg15053Ser) c.45016C>A (p.Arg15006Ser) c.71059C>A (p.Arg23687Ser) c.66457C>A (p.Arg22153Ser) c.66454C>A (p.Arg22152Ser) c.63496C>A (p.Arg21166Ser) c.45112C>A (p.Arg15038Ser) c.66607C>A (p.Arg22203Ser) c.66604C>A (p.Arg22202Ser) c.66037C>A (p.Arg22013Ser) c.63379C>A (p.Arg21127Ser) c.63298C>A (p.Arg21100Ser) c.45061C>A (p.Arg15021Ser) c.34915C>A (p.Arg11639Ser) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178573967G>A | CA430256863 | TTN,TTN-AS1 | c.64461C>T (p.Gly21487=) c.45546C>T (p.Gly15182=) c.45345C>T (p.Gly15115=) c.44970C>T (p.Gly14990=) c.72165C>T (p.Gly24055=) c.67242C>T (p.Gly22414=) n.596+2518G>A n.2044-8605G>A c.71262C>T (p.Gly23754=) c.45156C>T (p.Gly15052=) c.45015C>T (p.Gly15005=) c.71058C>T (p.Gly23686=) c.66456C>T (p.Gly22152=) c.66453C>T (p.Gly22151=) c.63495C>T (p.Gly21165=) c.45111C>T (p.Gly15037=) c.66606C>T (p.Gly22202=) c.66603C>T (p.Gly22201=) c.66036C>T (p.Gly22012=) c.63378C>T (p.Gly21126=) c.63297C>T (p.Gly21099=) c.45060C>T (p.Gly15020=) c.34914C>T (p.Gly11638=) | ClinVar |
| 2 | g.178573967G>C | CA430256864 | TTN,TTN-AS1 | c.64461C>G (p.Gly21487=) c.45546C>G (p.Gly15182=) c.45345C>G (p.Gly15115=) c.44970C>G (p.Gly14990=) c.72165C>G (p.Gly24055=) c.67242C>G (p.Gly22414=) n.596+2518G>C n.2044-8605G>C c.71262C>G (p.Gly23754=) c.45156C>G (p.Gly15052=) c.45015C>G (p.Gly15005=) c.71058C>G (p.Gly23686=) c.66456C>G (p.Gly22152=) c.66453C>G (p.Gly22151=) c.63495C>G (p.Gly21165=) c.45111C>G (p.Gly15037=) c.66606C>G (p.Gly22202=) c.66603C>G (p.Gly22201=) c.66036C>G (p.Gly22012=) c.63378C>G (p.Gly21126=) c.63297C>G (p.Gly21099=) c.45060C>G (p.Gly15020=) c.34914C>G (p.Gly11638=) | |
| 2 | g.178573967G>T | CA430256866 | TTN,TTN-AS1 | c.64461C>A (p.Gly21487=) c.45546C>A (p.Gly15182=) c.45345C>A (p.Gly15115=) c.44970C>A (p.Gly14990=) c.72165C>A (p.Gly24055=) c.67242C>A (p.Gly22414=) n.596+2518G>T n.2044-8605G>T c.71262C>A (p.Gly23754=) c.45156C>A (p.Gly15052=) c.45015C>A (p.Gly15005=) c.71058C>A (p.Gly23686=) c.66456C>A (p.Gly22152=) c.66453C>A (p.Gly22151=) c.63495C>A (p.Gly21165=) c.45111C>A (p.Gly15037=) c.66606C>A (p.Gly22202=) c.66603C>A (p.Gly22201=) c.66036C>A (p.Gly22012=) c.63378C>A (p.Gly21126=) c.63297C>A (p.Gly21099=) c.45060C>A (p.Gly15020=) c.34914C>A (p.Gly11638=) | |
| 2 | g.178573968C>A | CA349648254 | TTN,TTN-AS1 | c.64460G>T (p.Gly21487Val) c.45545G>T (p.Gly15182Val) c.45344G>T (p.Gly15115Val) c.44969G>T (p.Gly14990Val) c.72164G>T (p.Gly24055Val) c.67241G>T (p.Gly22414Val) n.596+2519C>A n.2044-8604C>A c.71261G>T (p.Gly23754Val) c.45155G>T (p.Gly15052Val) c.45014G>T (p.Gly15005Val) c.71057G>T (p.Gly23686Val) c.66455G>T (p.Gly22152Val) c.66452G>T (p.Gly22151Val) c.63494G>T (p.Gly21165Val) c.45110G>T (p.Gly15037Val) c.66605G>T (p.Gly22202Val) c.66602G>T (p.Gly22201Val) c.66035G>T (p.Gly22012Val) c.63377G>T (p.Gly21126Val) c.63296G>T (p.Gly21099Val) c.45059G>T (p.Gly15020Val) c.34913G>T (p.Gly11638Val) | |
| 2 | g.178573968C>G | CA349648256 | TTN,TTN-AS1 | c.64460G>C (p.Gly21487Ala) c.45545G>C (p.Gly15182Ala) c.45344G>C (p.Gly15115Ala) c.44969G>C (p.Gly14990Ala) c.72164G>C (p.Gly24055Ala) c.67241G>C (p.Gly22414Ala) n.596+2519C>G n.2044-8604C>G c.71261G>C (p.Gly23754Ala) c.45155G>C (p.Gly15052Ala) c.45014G>C (p.Gly15005Ala) c.71057G>C (p.Gly23686Ala) c.66455G>C (p.Gly22152Ala) c.66452G>C (p.Gly22151Ala) c.63494G>C (p.Gly21165Ala) c.45110G>C (p.Gly15037Ala) c.66605G>C (p.Gly22202Ala) c.66602G>C (p.Gly22201Ala) c.66035G>C (p.Gly22012Ala) c.63377G>C (p.Gly21126Ala) c.63296G>C (p.Gly21099Ala) c.45059G>C (p.Gly15020Ala) c.34913G>C (p.Gly11638Ala) | |
| 2 | g.178573968C>T | CA349648258 | TTN,TTN-AS1 | c.64460G>A (p.Gly21487Asp) c.45545G>A (p.Gly15182Asp) c.45344G>A (p.Gly15115Asp) c.44969G>A (p.Gly14990Asp) c.72164G>A (p.Gly24055Asp) c.67241G>A (p.Gly22414Asp) n.596+2519C>T n.2044-8604C>T c.71261G>A (p.Gly23754Asp) c.45155G>A (p.Gly15052Asp) c.45014G>A (p.Gly15005Asp) c.71057G>A (p.Gly23686Asp) c.66455G>A (p.Gly22152Asp) c.66452G>A (p.Gly22151Asp) c.63494G>A (p.Gly21165Asp) c.45110G>A (p.Gly15037Asp) c.66605G>A (p.Gly22202Asp) c.66602G>A (p.Gly22201Asp) c.66035G>A (p.Gly22012Asp) c.63377G>A (p.Gly21126Asp) c.63296G>A (p.Gly21099Asp) c.45059G>A (p.Gly15020Asp) c.34913G>A (p.Gly11638Asp) | |
| 2 | g.178573969C>A | CA349648260 | TTN,TTN-AS1 | c.64459G>T (p.Gly21487Cys) c.45544G>T (p.Gly15182Cys) c.45343G>T (p.Gly15115Cys) c.44968G>T (p.Gly14990Cys) c.72163G>T (p.Gly24055Cys) c.67240G>T (p.Gly22414Cys) n.596+2520C>A n.2044-8603C>A c.71260G>T (p.Gly23754Cys) c.45154G>T (p.Gly15052Cys) c.45013G>T (p.Gly15005Cys) c.71056G>T (p.Gly23686Cys) c.66454G>T (p.Gly22152Cys) c.66451G>T (p.Gly22151Cys) c.63493G>T (p.Gly21165Cys) c.45109G>T (p.Gly15037Cys) c.66604G>T (p.Gly22202Cys) c.66601G>T (p.Gly22201Cys) c.66034G>T (p.Gly22012Cys) c.63376G>T (p.Gly21126Cys) c.63295G>T (p.Gly21099Cys) c.45058G>T (p.Gly15020Cys) c.34912G>T (p.Gly11638Cys) | |
| 2 | g.178573969C>G | CA349648261 | TTN,TTN-AS1 | c.64459G>C (p.Gly21487Arg) c.45544G>C (p.Gly15182Arg) c.45343G>C (p.Gly15115Arg) c.44968G>C (p.Gly14990Arg) c.72163G>C (p.Gly24055Arg) c.67240G>C (p.Gly22414Arg) n.596+2520C>G n.2044-8603C>G c.71260G>C (p.Gly23754Arg) c.45154G>C (p.Gly15052Arg) c.45013G>C (p.Gly15005Arg) c.71056G>C (p.Gly23686Arg) c.66454G>C (p.Gly22152Arg) c.66451G>C (p.Gly22151Arg) c.63493G>C (p.Gly21165Arg) c.45109G>C (p.Gly15037Arg) c.66604G>C (p.Gly22202Arg) c.66601G>C (p.Gly22201Arg) c.66034G>C (p.Gly22012Arg) c.63376G>C (p.Gly21126Arg) c.63295G>C (p.Gly21099Arg) c.45058G>C (p.Gly15020Arg) c.34912G>C (p.Gly11638Arg) | |
| 2 | g.178573969C>T | CA349648263 | TTN,TTN-AS1 | c.64459G>A (p.Gly21487Ser) c.45544G>A (p.Gly15182Ser) c.45343G>A (p.Gly15115Ser) c.44968G>A (p.Gly14990Ser) c.72163G>A (p.Gly24055Ser) c.67240G>A (p.Gly22414Ser) n.596+2520C>T n.2044-8603C>T c.71260G>A (p.Gly23754Ser) c.45154G>A (p.Gly15052Ser) c.45013G>A (p.Gly15005Ser) c.71056G>A (p.Gly23686Ser) c.66454G>A (p.Gly22152Ser) c.66451G>A (p.Gly22151Ser) c.63493G>A (p.Gly21165Ser) c.45109G>A (p.Gly15037Ser) c.66604G>A (p.Gly22202Ser) c.66601G>A (p.Gly22201Ser) c.66034G>A (p.Gly22012Ser) c.63376G>A (p.Gly21126Ser) c.63295G>A (p.Gly21099Ser) c.45058G>A (p.Gly15020Ser) c.34912G>A (p.Gly11638Ser) | |
| 2 | g.178573970T>A | CA430256875 | TTN,TTN-AS1 | c.64458A>T (p.Ser21486=) c.45543A>T (p.Ser15181=) c.45342A>T (p.Ser15114=) c.44967A>T (p.Ser14989=) c.72162A>T (p.Ser24054=) c.67239A>T (p.Ser22413=) n.596+2521T>A n.2044-8602T>A c.71259A>T (p.Ser23753=) c.45153A>T (p.Ser15051=) c.45012A>T (p.Ser15004=) c.71055A>T (p.Ser23685=) c.66453A>T (p.Ser22151=) c.66450A>T (p.Ser22150=) c.63492A>T (p.Ser21164=) c.45108A>T (p.Ser15036=) c.66603A>T (p.Ser22201=) c.66600A>T (p.Ser22200=) c.66033A>T (p.Ser22011=) c.63375A>T (p.Ser21125=) c.63294A>T (p.Ser21098=) c.45057A>T (p.Ser15019=) c.34911A>T (p.Ser11637=) | |
| 2 | g.178573970T>C | CA430256880 | TTN,TTN-AS1 | c.64458A>G (p.Ser21486=) c.45543A>G (p.Ser15181=) c.45342A>G (p.Ser15114=) c.44967A>G (p.Ser14989=) c.72162A>G (p.Ser24054=) c.67239A>G (p.Ser22413=) n.596+2521T>C n.2044-8602T>C c.71259A>G (p.Ser23753=) c.45153A>G (p.Ser15051=) c.45012A>G (p.Ser15004=) c.71055A>G (p.Ser23685=) c.66453A>G (p.Ser22151=) c.66450A>G (p.Ser22150=) c.63492A>G (p.Ser21164=) c.45108A>G (p.Ser15036=) c.66603A>G (p.Ser22201=) c.66600A>G (p.Ser22200=) c.66033A>G (p.Ser22011=) c.63375A>G (p.Ser21125=) c.63294A>G (p.Ser21098=) c.45057A>G (p.Ser15019=) c.34911A>G (p.Ser11637=) | |
| 2 | g.178573970T>G | CA430256881 | TTN,TTN-AS1 | c.64458A>C (p.Ser21486=) c.45543A>C (p.Ser15181=) c.45342A>C (p.Ser15114=) c.44967A>C (p.Ser14989=) c.72162A>C (p.Ser24054=) c.67239A>C (p.Ser22413=) n.596+2521T>G n.2044-8602T>G c.71259A>C (p.Ser23753=) c.45153A>C (p.Ser15051=) c.45012A>C (p.Ser15004=) c.71055A>C (p.Ser23685=) c.66453A>C (p.Ser22151=) c.66450A>C (p.Ser22150=) c.63492A>C (p.Ser21164=) c.45108A>C (p.Ser15036=) c.66603A>C (p.Ser22201=) c.66600A>C (p.Ser22200=) c.66033A>C (p.Ser22011=) c.63375A>C (p.Ser21125=) c.63294A>C (p.Ser21098=) c.45057A>C (p.Ser15019=) c.34911A>C (p.Ser11637=) | |
| 2 | g.178573971G>A | CA349648270 | TTN,TTN-AS1 | c.64457C>T (p.Ser21486Leu) c.45542C>T (p.Ser15181Leu) c.45341C>T (p.Ser15114Leu) c.44966C>T (p.Ser14989Leu) c.72161C>T (p.Ser24054Leu) c.67238C>T (p.Ser22413Leu) n.596+2522G>A n.2044-8601G>A c.71258C>T (p.Ser23753Leu) c.45152C>T (p.Ser15051Leu) c.45011C>T (p.Ser15004Leu) c.71054C>T (p.Ser23685Leu) c.66452C>T (p.Ser22151Leu) c.66449C>T (p.Ser22150Leu) c.63491C>T (p.Ser21164Leu) c.45107C>T (p.Ser15036Leu) c.66602C>T (p.Ser22201Leu) c.66599C>T (p.Ser22200Leu) c.66032C>T (p.Ser22011Leu) c.63374C>T (p.Ser21125Leu) c.63293C>T (p.Ser21098Leu) c.45056C>T (p.Ser15019Leu) c.34910C>T (p.Ser11637Leu) | gnomAD v4 |
| 2 | g.178573971G>C | CA349648266 | TTN,TTN-AS1 | c.64457C>G (p.Ser21486Ter) c.45542C>G (p.Ser15181Ter) c.45341C>G (p.Ser15114Ter) c.44966C>G (p.Ser14989Ter) c.72161C>G (p.Ser24054Ter) c.67238C>G (p.Ser22413Ter) n.596+2522G>C n.2044-8601G>C c.71258C>G (p.Ser23753Ter) c.45152C>G (p.Ser15051Ter) c.45011C>G (p.Ser15004Ter) c.71054C>G (p.Ser23685Ter) c.66452C>G (p.Ser22151Ter) c.66449C>G (p.Ser22150Ter) c.63491C>G (p.Ser21164Ter) c.45107C>G (p.Ser15036Ter) c.66602C>G (p.Ser22201Ter) c.66599C>G (p.Ser22200Ter) c.66032C>G (p.Ser22011Ter) c.63374C>G (p.Ser21125Ter) c.63293C>G (p.Ser21098Ter) c.45056C>G (p.Ser15019Ter) c.34910C>G (p.Ser11637Ter) | |
| 2 | g.178573971G>T | CA349648268 | TTN,TTN-AS1 | c.64457C>A (p.Ser21486Ter) c.45542C>A (p.Ser15181Ter) c.45341C>A (p.Ser15114Ter) c.44966C>A (p.Ser14989Ter) c.72161C>A (p.Ser24054Ter) c.67238C>A (p.Ser22413Ter) n.596+2522G>T n.2044-8601G>T c.71258C>A (p.Ser23753Ter) c.45152C>A (p.Ser15051Ter) c.45011C>A (p.Ser15004Ter) c.71054C>A (p.Ser23685Ter) c.66452C>A (p.Ser22151Ter) c.66449C>A (p.Ser22150Ter) c.63491C>A (p.Ser21164Ter) c.45107C>A (p.Ser15036Ter) c.66602C>A (p.Ser22201Ter) c.66599C>A (p.Ser22200Ter) c.66032C>A (p.Ser22011Ter) c.63374C>A (p.Ser21125Ter) c.63293C>A (p.Ser21098Ter) c.45056C>A (p.Ser15019Ter) c.34910C>A (p.Ser11637Ter) | |
| 2 | g.178573972A>C | CA349648274 | TTN,TTN-AS1 | c.64456T>G (p.Ser21486Ala) c.45541T>G (p.Ser15181Ala) c.45340T>G (p.Ser15114Ala) c.44965T>G (p.Ser14989Ala) c.72160T>G (p.Ser24054Ala) c.67237T>G (p.Ser22413Ala) n.596+2523A>C n.2044-8600A>C c.71257T>G (p.Ser23753Ala) c.45151T>G (p.Ser15051Ala) c.45010T>G (p.Ser15004Ala) c.71053T>G (p.Ser23685Ala) c.66451T>G (p.Ser22151Ala) c.66448T>G (p.Ser22150Ala) c.63490T>G (p.Ser21164Ala) c.45106T>G (p.Ser15036Ala) c.66601T>G (p.Ser22201Ala) c.66598T>G (p.Ser22200Ala) c.66031T>G (p.Ser22011Ala) c.63373T>G (p.Ser21125Ala) c.63292T>G (p.Ser21098Ala) c.45055T>G (p.Ser15019Ala) c.34909T>G (p.Ser11637Ala) | |
| 2 | g.178573972A>G | CA349648278 | TTN,TTN-AS1 | c.64456T>C (p.Ser21486Pro) c.45541T>C (p.Ser15181Pro) c.45340T>C (p.Ser15114Pro) c.44965T>C (p.Ser14989Pro) c.72160T>C (p.Ser24054Pro) c.67237T>C (p.Ser22413Pro) n.596+2523A>G n.2044-8600A>G c.71257T>C (p.Ser23753Pro) c.45151T>C (p.Ser15051Pro) c.45010T>C (p.Ser15004Pro) c.71053T>C (p.Ser23685Pro) c.66451T>C (p.Ser22151Pro) c.66448T>C (p.Ser22150Pro) c.63490T>C (p.Ser21164Pro) c.45106T>C (p.Ser15036Pro) c.66601T>C (p.Ser22201Pro) c.66598T>C (p.Ser22200Pro) c.66031T>C (p.Ser22011Pro) c.63373T>C (p.Ser21125Pro) c.63292T>C (p.Ser21098Pro) c.45055T>C (p.Ser15019Pro) c.34909T>C (p.Ser11637Pro) | |
| 2 | g.178573972A>T | CA349648276 | TTN,TTN-AS1 | c.64456T>A (p.Ser21486Thr) c.45541T>A (p.Ser15181Thr) c.45340T>A (p.Ser15114Thr) c.44965T>A (p.Ser14989Thr) c.72160T>A (p.Ser24054Thr) c.67237T>A (p.Ser22413Thr) n.596+2523A>T n.2044-8600A>T c.71257T>A (p.Ser23753Thr) c.45151T>A (p.Ser15051Thr) c.45010T>A (p.Ser15004Thr) c.71053T>A (p.Ser23685Thr) c.66451T>A (p.Ser22151Thr) c.66448T>A (p.Ser22150Thr) c.63490T>A (p.Ser21164Thr) c.45106T>A (p.Ser15036Thr) c.66601T>A (p.Ser22201Thr) c.66598T>A (p.Ser22200Thr) c.66031T>A (p.Ser22011Thr) c.63373T>A (p.Ser21125Thr) c.63292T>A (p.Ser21098Thr) c.45055T>A (p.Ser15019Thr) c.34909T>A (p.Ser11637Thr) | |
| 2 | g.178573973A>C | CA430256889 | TTN,TTN-AS1 | c.64455T>G (p.Val21485=) c.45540T>G (p.Val15180=) c.45339T>G (p.Val15113=) c.44964T>G (p.Val14988=) c.72159T>G (p.Val24053=) c.67236T>G (p.Val22412=) n.596+2524A>C n.2044-8599A>C c.71256T>G (p.Val23752=) c.45150T>G (p.Val15050=) c.45009T>G (p.Val15003=) c.71052T>G (p.Val23684=) c.66450T>G (p.Val22150=) c.66447T>G (p.Val22149=) c.63489T>G (p.Val21163=) c.45105T>G (p.Val15035=) c.66600T>G (p.Val22200=) c.66597T>G (p.Val22199=) c.66030T>G (p.Val22010=) c.63372T>G (p.Val21124=) c.63291T>G (p.Val21097=) c.45054T>G (p.Val15018=) c.34908T>G (p.Val11636=) | |
| 2 | g.178573973A>G | CA430256890 | TTN,TTN-AS1 | c.64455T>C (p.Val21485=) c.45540T>C (p.Val15180=) c.45339T>C (p.Val15113=) c.44964T>C (p.Val14988=) c.72159T>C (p.Val24053=) c.67236T>C (p.Val22412=) n.596+2524A>G n.2044-8599A>G c.71256T>C (p.Val23752=) c.45150T>C (p.Val15050=) c.45009T>C (p.Val15003=) c.71052T>C (p.Val23684=) c.66450T>C (p.Val22150=) c.66447T>C (p.Val22149=) c.63489T>C (p.Val21163=) c.45105T>C (p.Val15035=) c.66600T>C (p.Val22200=) c.66597T>C (p.Val22199=) c.66030T>C (p.Val22010=) c.63372T>C (p.Val21124=) c.63291T>C (p.Val21097=) c.45054T>C (p.Val15018=) c.34908T>C (p.Val11636=) | |
| 2 | g.178573973A>T | CA430256891 | TTN,TTN-AS1 | c.64455T>A (p.Val21485=) c.45540T>A (p.Val15180=) c.45339T>A (p.Val15113=) c.44964T>A (p.Val14988=) c.72159T>A (p.Val24053=) c.67236T>A (p.Val22412=) n.596+2524A>T n.2044-8599A>T c.71256T>A (p.Val23752=) c.45150T>A (p.Val15050=) c.45009T>A (p.Val15003=) c.71052T>A (p.Val23684=) c.66450T>A (p.Val22150=) c.66447T>A (p.Val22149=) c.63489T>A (p.Val21163=) c.45105T>A (p.Val15035=) c.66600T>A (p.Val22200=) c.66597T>A (p.Val22199=) c.66030T>A (p.Val22010=) c.63372T>A (p.Val21124=) c.63291T>A (p.Val21097=) c.45054T>A (p.Val15018=) c.34908T>A (p.Val11636=) | |
| 2 | g.178573974A>C | CA349648280 | TTN,TTN-AS1 | c.64454T>G (p.Val21485Gly) c.45539T>G (p.Val15180Gly) c.45338T>G (p.Val15113Gly) c.44963T>G (p.Val14988Gly) c.72158T>G (p.Val24053Gly) c.67235T>G (p.Val22412Gly) n.596+2525A>C n.2044-8598A>C c.71255T>G (p.Val23752Gly) c.45149T>G (p.Val15050Gly) c.45008T>G (p.Val15003Gly) c.71051T>G (p.Val23684Gly) c.66449T>G (p.Val22150Gly) c.66446T>G (p.Val22149Gly) c.63488T>G (p.Val21163Gly) c.45104T>G (p.Val15035Gly) c.66599T>G (p.Val22200Gly) c.66596T>G (p.Val22199Gly) c.66029T>G (p.Val22010Gly) c.63371T>G (p.Val21124Gly) c.63290T>G (p.Val21097Gly) c.45053T>G (p.Val15018Gly) c.34907T>G (p.Val11636Gly) | |
| 2 | g.178573974A>G | CA349648282 | TTN,TTN-AS1 | c.64454T>C (p.Val21485Ala) c.45539T>C (p.Val15180Ala) c.45338T>C (p.Val15113Ala) c.44963T>C (p.Val14988Ala) c.72158T>C (p.Val24053Ala) c.67235T>C (p.Val22412Ala) n.596+2525A>G n.2044-8598A>G c.71255T>C (p.Val23752Ala) c.45149T>C (p.Val15050Ala) c.45008T>C (p.Val15003Ala) c.71051T>C (p.Val23684Ala) c.66449T>C (p.Val22150Ala) c.66446T>C (p.Val22149Ala) c.63488T>C (p.Val21163Ala) c.45104T>C (p.Val15035Ala) c.66599T>C (p.Val22200Ala) c.66596T>C (p.Val22199Ala) c.66029T>C (p.Val22010Ala) c.63371T>C (p.Val21124Ala) c.63290T>C (p.Val21097Ala) c.45053T>C (p.Val15018Ala) c.34907T>C (p.Val11636Ala) | |
| 2 | g.178573974A>T | CA349648284 | TTN,TTN-AS1 | c.64454T>A (p.Val21485Asp) c.45539T>A (p.Val15180Asp) c.45338T>A (p.Val15113Asp) c.44963T>A (p.Val14988Asp) c.72158T>A (p.Val24053Asp) c.67235T>A (p.Val22412Asp) n.596+2525A>T n.2044-8598A>T c.71255T>A (p.Val23752Asp) c.45149T>A (p.Val15050Asp) c.45008T>A (p.Val15003Asp) c.71051T>A (p.Val23684Asp) c.66449T>A (p.Val22150Asp) c.66446T>A (p.Val22149Asp) c.63488T>A (p.Val21163Asp) c.45104T>A (p.Val15035Asp) c.66599T>A (p.Val22200Asp) c.66596T>A (p.Val22199Asp) c.66029T>A (p.Val22010Asp) c.63371T>A (p.Val21124Asp) c.63290T>A (p.Val21097Asp) c.45053T>A (p.Val15018Asp) c.34907T>A (p.Val11636Asp) | gnomAD v4 |
| 2 | g.178573975C>A | CA349648286 | TTN,TTN-AS1 | c.64453G>T (p.Val21485Phe) c.45538G>T (p.Val15180Phe) c.45337G>T (p.Val15113Phe) c.44962G>T (p.Val14988Phe) c.72157G>T (p.Val24053Phe) c.67234G>T (p.Val22412Phe) n.596+2526C>A n.2044-8597C>A c.71254G>T (p.Val23752Phe) c.45148G>T (p.Val15050Phe) c.45007G>T (p.Val15003Phe) c.71050G>T (p.Val23684Phe) c.66448G>T (p.Val22150Phe) c.66445G>T (p.Val22149Phe) c.63487G>T (p.Val21163Phe) c.45103G>T (p.Val15035Phe) c.66598G>T (p.Val22200Phe) c.66595G>T (p.Val22199Phe) c.66028G>T (p.Val22010Phe) c.63370G>T (p.Val21124Phe) c.63289G>T (p.Val21097Phe) c.45052G>T (p.Val15018Phe) c.34906G>T (p.Val11636Phe) | |
| 2 | g.178573975C= | CA1310532326 | TTN,TTN-AS1 | c.64453G= (p.Val21485=) c.45538G= (p.Val15180=) c.45337G= (p.Val15113=) c.44962G= (p.Val14988=) c.72157G= (p.Val24053=) c.67234G= (p.Val22412=) n.596+2526C= n.2044-8597C= c.71254G= (p.Val23752=) c.45148G= (p.Val15050=) c.45007G= (p.Val15003=) c.71050G= (p.Val23684=) c.66448G= (p.Val22150=) c.66445G= (p.Val22149=) c.63487G= (p.Val21163=) c.45103G= (p.Val15035=) c.66598G= (p.Val22200=) c.66595G= (p.Val22199=) c.66028G= (p.Val22010=) c.63370G= (p.Val21124=) c.63289G= (p.Val21097=) c.45052G= (p.Val15018=) c.34906G= (p.Val11636=) | |
| 2 | g.178573975C>G | CA349648288 | TTN,TTN-AS1 | c.64453G>C (p.Val21485Leu) c.45538G>C (p.Val15180Leu) c.45337G>C (p.Val15113Leu) c.44962G>C (p.Val14988Leu) c.72157G>C (p.Val24053Leu) c.67234G>C (p.Val22412Leu) n.596+2526C>G n.2044-8597C>G c.71254G>C (p.Val23752Leu) c.45148G>C (p.Val15050Leu) c.45007G>C (p.Val15003Leu) c.71050G>C (p.Val23684Leu) c.66448G>C (p.Val22150Leu) c.66445G>C (p.Val22149Leu) c.63487G>C (p.Val21163Leu) c.45103G>C (p.Val15035Leu) c.66598G>C (p.Val22200Leu) c.66595G>C (p.Val22199Leu) c.66028G>C (p.Val22010Leu) c.63370G>C (p.Val21124Leu) c.63289G>C (p.Val21097Leu) c.45052G>C (p.Val15018Leu) c.34906G>C (p.Val11636Leu) | |
| 2 | g.178573975C>T | CA349648289 | TTN,TTN-AS1 | c.64453G>A (p.Val21485Ile) c.45538G>A (p.Val15180Ile) c.45337G>A (p.Val15113Ile) c.44962G>A (p.Val14988Ile) c.72157G>A (p.Val24053Ile) c.67234G>A (p.Val22412Ile) n.596+2526C>T n.2044-8597C>T c.71254G>A (p.Val23752Ile) c.45148G>A (p.Val15050Ile) c.45007G>A (p.Val15003Ile) c.71050G>A (p.Val23684Ile) c.66448G>A (p.Val22150Ile) c.66445G>A (p.Val22149Ile) c.63487G>A (p.Val21163Ile) c.45103G>A (p.Val15035Ile) c.66598G>A (p.Val22200Ile) c.66595G>A (p.Val22199Ile) c.66028G>A (p.Val22010Ile) c.63370G>A (p.Val21124Ile) c.63289G>A (p.Val21097Ile) c.45052G>A (p.Val15018Ile) c.34906G>A (p.Val11636Ile) | dbSNP |
| 2 | g.178573976A>C | CA349648292 | TTN,TTN-AS1 | c.64452T>G (p.Asp21484Glu) c.45537T>G (p.Asp15179Glu) c.45336T>G (p.Asp15112Glu) c.44961T>G (p.Asp14987Glu) c.72156T>G (p.Asp24052Glu) c.67233T>G (p.Asp22411Glu) n.596+2527A>C n.2044-8596A>C c.71253T>G (p.Asp23751Glu) c.45147T>G (p.Asp15049Glu) c.45006T>G (p.Asp15002Glu) c.71049T>G (p.Asp23683Glu) c.66447T>G (p.Asp22149Glu) c.66444T>G (p.Asp22148Glu) c.63486T>G (p.Asp21162Glu) c.45102T>G (p.Asp15034Glu) c.66597T>G (p.Asp22199Glu) c.66594T>G (p.Asp22198Glu) c.66027T>G (p.Asp22009Glu) c.63369T>G (p.Asp21123Glu) c.63288T>G (p.Asp21096Glu) c.45051T>G (p.Asp15017Glu) c.34905T>G (p.Asp11635Glu) | |
| 2 | g.178573976A>G | CA430256905 | TTN,TTN-AS1 | c.64452T>C (p.Asp21484=) c.45537T>C (p.Asp15179=) c.45336T>C (p.Asp15112=) c.44961T>C (p.Asp14987=) c.72156T>C (p.Asp24052=) c.67233T>C (p.Asp22411=) n.596+2527A>G n.2044-8596A>G c.71253T>C (p.Asp23751=) c.45147T>C (p.Asp15049=) c.45006T>C (p.Asp15002=) c.71049T>C (p.Asp23683=) c.66447T>C (p.Asp22149=) c.66444T>C (p.Asp22148=) c.63486T>C (p.Asp21162=) c.45102T>C (p.Asp15034=) c.66597T>C (p.Asp22199=) c.66594T>C (p.Asp22198=) c.66027T>C (p.Asp22009=) c.63369T>C (p.Asp21123=) c.63288T>C (p.Asp21096=) c.45051T>C (p.Asp15017=) c.34905T>C (p.Asp11635=) | |
| 2 | g.178573976A>T | CA349648293 | TTN,TTN-AS1 | c.64452T>A (p.Asp21484Glu) c.45537T>A (p.Asp15179Glu) c.45336T>A (p.Asp15112Glu) c.44961T>A (p.Asp14987Glu) c.72156T>A (p.Asp24052Glu) c.67233T>A (p.Asp22411Glu) n.596+2527A>T n.2044-8596A>T c.71253T>A (p.Asp23751Glu) c.45147T>A (p.Asp15049Glu) c.45006T>A (p.Asp15002Glu) c.71049T>A (p.Asp23683Glu) c.66447T>A (p.Asp22149Glu) c.66444T>A (p.Asp22148Glu) c.63486T>A (p.Asp21162Glu) c.45102T>A (p.Asp15034Glu) c.66597T>A (p.Asp22199Glu) c.66594T>A (p.Asp22198Glu) c.66027T>A (p.Asp22009Glu) c.63369T>A (p.Asp21123Glu) c.63288T>A (p.Asp21096Glu) c.45051T>A (p.Asp15017Glu) c.34905T>A (p.Asp11635Glu) | |
| 2 | g.178573977T>A | CA349648295 | TTN,TTN-AS1 | c.64451A>T (p.Asp21484Val) c.45536A>T (p.Asp15179Val) c.45335A>T (p.Asp15112Val) c.44960A>T (p.Asp14987Val) c.72155A>T (p.Asp24052Val) c.67232A>T (p.Asp22411Val) n.596+2528T>A n.2044-8595T>A c.71252A>T (p.Asp23751Val) c.45146A>T (p.Asp15049Val) c.45005A>T (p.Asp15002Val) c.71048A>T (p.Asp23683Val) c.66446A>T (p.Asp22149Val) c.66443A>T (p.Asp22148Val) c.63485A>T (p.Asp21162Val) c.45101A>T (p.Asp15034Val) c.66596A>T (p.Asp22199Val) c.66593A>T (p.Asp22198Val) c.66026A>T (p.Asp22009Val) c.63368A>T (p.Asp21123Val) c.63287A>T (p.Asp21096Val) c.45050A>T (p.Asp15017Val) c.34904A>T (p.Asp11635Val) | gnomAD v4 |
| 2 | g.178573977T>C | CA349648298 | TTN,TTN-AS1 | c.64451A>G (p.Asp21484Gly) c.45536A>G (p.Asp15179Gly) c.45335A>G (p.Asp15112Gly) c.44960A>G (p.Asp14987Gly) c.72155A>G (p.Asp24052Gly) c.67232A>G (p.Asp22411Gly) n.596+2528T>C n.2044-8595T>C c.71252A>G (p.Asp23751Gly) c.45146A>G (p.Asp15049Gly) c.45005A>G (p.Asp15002Gly) c.71048A>G (p.Asp23683Gly) c.66446A>G (p.Asp22149Gly) c.66443A>G (p.Asp22148Gly) c.63485A>G (p.Asp21162Gly) c.45101A>G (p.Asp15034Gly) c.66596A>G (p.Asp22199Gly) c.66593A>G (p.Asp22198Gly) c.66026A>G (p.Asp22009Gly) c.63368A>G (p.Asp21123Gly) c.63287A>G (p.Asp21096Gly) c.45050A>G (p.Asp15017Gly) c.34904A>G (p.Asp11635Gly) | dbSNP |
| 2 | g.178573977T>G | CA349648300 | TTN,TTN-AS1 | c.64451A>C (p.Asp21484Ala) c.45536A>C (p.Asp15179Ala) c.45335A>C (p.Asp15112Ala) c.44960A>C (p.Asp14987Ala) c.72155A>C (p.Asp24052Ala) c.67232A>C (p.Asp22411Ala) n.596+2528T>G n.2044-8595T>G c.71252A>C (p.Asp23751Ala) c.45146A>C (p.Asp15049Ala) c.45005A>C (p.Asp15002Ala) c.71048A>C (p.Asp23683Ala) c.66446A>C (p.Asp22149Ala) c.66443A>C (p.Asp22148Ala) c.63485A>C (p.Asp21162Ala) c.45101A>C (p.Asp15034Ala) c.66596A>C (p.Asp22199Ala) c.66593A>C (p.Asp22198Ala) c.66026A>C (p.Asp22009Ala) c.63368A>C (p.Asp21123Ala) c.63287A>C (p.Asp21096Ala) c.45050A>C (p.Asp15017Ala) c.34904A>C (p.Asp11635Ala) | |
| 2 | g.178573977T= | CA1310532327 | TTN,TTN-AS1 | c.64451A= (p.Asp21484=) c.45536A= (p.Asp15179=) c.45335A= (p.Asp15112=) c.44960A= (p.Asp14987=) c.72155A= (p.Asp24052=) c.67232A= (p.Asp22411=) n.596+2528T= n.2044-8595T= c.71252A= (p.Asp23751=) c.45146A= (p.Asp15049=) c.45005A= (p.Asp15002=) c.71048A= (p.Asp23683=) c.66446A= (p.Asp22149=) c.66443A= (p.Asp22148=) c.63485A= (p.Asp21162=) c.45101A= (p.Asp15034=) c.66596A= (p.Asp22199=) c.66593A= (p.Asp22198=) c.66026A= (p.Asp22009=) c.63368A= (p.Asp21123=) c.63287A= (p.Asp21096=) c.45050A= (p.Asp15017=) c.34904A= (p.Asp11635=) | |
| 2 | g.178573978C>A | CA349648307 | TTN,TTN-AS1 | c.64450G>T (p.Asp21484Tyr) c.45535G>T (p.Asp15179Tyr) c.45334G>T (p.Asp15112Tyr) c.44959G>T (p.Asp14987Tyr) c.72154G>T (p.Asp24052Tyr) c.67231G>T (p.Asp22411Tyr) n.596+2529C>A n.2044-8594C>A c.71251G>T (p.Asp23751Tyr) c.45145G>T (p.Asp15049Tyr) c.45004G>T (p.Asp15002Tyr) c.71047G>T (p.Asp23683Tyr) c.66445G>T (p.Asp22149Tyr) c.66442G>T (p.Asp22148Tyr) c.63484G>T (p.Asp21162Tyr) c.45100G>T (p.Asp15034Tyr) c.66595G>T (p.Asp22199Tyr) c.66592G>T (p.Asp22198Tyr) c.66025G>T (p.Asp22009Tyr) c.63367G>T (p.Asp21123Tyr) c.63286G>T (p.Asp21096Tyr) c.45049G>T (p.Asp15017Tyr) c.34903G>T (p.Asp11635Tyr) | |
| 2 | g.178573978C= | CA1310532329 | TTN,TTN-AS1 | c.64450G= (p.Asp21484=) c.45535G= (p.Asp15179=) c.45334G= (p.Asp15112=) c.44959G= (p.Asp14987=) c.72154G= (p.Asp24052=) c.67231G= (p.Asp22411=) n.596+2529C= n.2044-8594C= c.71251G= (p.Asp23751=) c.45145G= (p.Asp15049=) c.45004G= (p.Asp15002=) c.71047G= (p.Asp23683=) c.66445G= (p.Asp22149=) c.66442G= (p.Asp22148=) c.63484G= (p.Asp21162=) c.45100G= (p.Asp15034=) c.66595G= (p.Asp22199=) c.66592G= (p.Asp22198=) c.66025G= (p.Asp22009=) c.63367G= (p.Asp21123=) c.63286G= (p.Asp21096=) c.45049G= (p.Asp15017=) c.34903G= (p.Asp11635=) | |
| 2 | g.178573978C>G | CA349648303 | TTN,TTN-AS1 | c.64450G>C (p.Asp21484His) c.45535G>C (p.Asp15179His) c.45334G>C (p.Asp15112His) c.44959G>C (p.Asp14987His) c.72154G>C (p.Asp24052His) c.67231G>C (p.Asp22411His) n.596+2529C>G n.2044-8594C>G c.71251G>C (p.Asp23751His) c.45145G>C (p.Asp15049His) c.45004G>C (p.Asp15002His) c.71047G>C (p.Asp23683His) c.66445G>C (p.Asp22149His) c.66442G>C (p.Asp22148His) c.63484G>C (p.Asp21162His) c.45100G>C (p.Asp15034His) c.66595G>C (p.Asp22199His) c.66592G>C (p.Asp22198His) c.66025G>C (p.Asp22009His) c.63367G>C (p.Asp21123His) c.63286G>C (p.Asp21096His) c.45049G>C (p.Asp15017His) c.34903G>C (p.Asp11635His) | |
| 2 | g.178573978C>T | CA1990537 | TTN,TTN-AS1 | c.64450G>A (p.Asp21484Asn) c.45535G>A (p.Asp15179Asn) c.45334G>A (p.Asp15112Asn) c.44959G>A (p.Asp14987Asn) c.72154G>A (p.Asp24052Asn) c.67231G>A (p.Asp22411Asn) n.596+2529C>T n.2044-8594C>T c.71251G>A (p.Asp23751Asn) c.45145G>A (p.Asp15049Asn) c.45004G>A (p.Asp15002Asn) c.71047G>A (p.Asp23683Asn) c.66445G>A (p.Asp22149Asn) c.66442G>A (p.Asp22148Asn) c.63484G>A (p.Asp21162Asn) c.45100G>A (p.Asp15034Asn) c.66595G>A (p.Asp22199Asn) c.66592G>A (p.Asp22198Asn) c.66025G>A (p.Asp22009Asn) c.63367G>A (p.Asp21123Asn) c.63286G>A (p.Asp21096Asn) c.45049G>A (p.Asp15017Asn) c.34903G>A (p.Asp11635Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178573979A>C | CA430256913 | TTN,TTN-AS1 | c.64449T>G (p.Ala21483=) c.45534T>G (p.Ala15178=) c.45333T>G (p.Ala15111=) c.44958T>G (p.Ala14986=) c.72153T>G (p.Ala24051=) c.67230T>G (p.Ala22410=) n.596+2530A>C n.2044-8593A>C c.71250T>G (p.Ala23750=) c.45144T>G (p.Ala15048=) c.45003T>G (p.Ala15001=) c.71046T>G (p.Ala23682=) c.66444T>G (p.Ala22148=) c.66441T>G (p.Ala22147=) c.63483T>G (p.Ala21161=) c.45099T>G (p.Ala15033=) c.66594T>G (p.Ala22198=) c.66591T>G (p.Ala22197=) c.66024T>G (p.Ala22008=) c.63366T>G (p.Ala21122=) c.63285T>G (p.Ala21095=) c.45048T>G (p.Ala15016=) c.34902T>G (p.Ala11634=) | |
| 2 | g.178573979A>G | CA430256914 | TTN,TTN-AS1 | c.64449T>C (p.Ala21483=) c.45534T>C (p.Ala15178=) c.45333T>C (p.Ala15111=) c.44958T>C (p.Ala14986=) c.72153T>C (p.Ala24051=) c.67230T>C (p.Ala22410=) n.596+2530A>G n.2044-8593A>G c.71250T>C (p.Ala23750=) c.45144T>C (p.Ala15048=) c.45003T>C (p.Ala15001=) c.71046T>C (p.Ala23682=) c.66444T>C (p.Ala22148=) c.66441T>C (p.Ala22147=) c.63483T>C (p.Ala21161=) c.45099T>C (p.Ala15033=) c.66594T>C (p.Ala22198=) c.66591T>C (p.Ala22197=) c.66024T>C (p.Ala22008=) c.63366T>C (p.Ala21122=) c.63285T>C (p.Ala21095=) c.45048T>C (p.Ala15016=) c.34902T>C (p.Ala11634=) | |
| 2 | g.178573979A>T | CA430256917 | TTN,TTN-AS1 | c.64449T>A (p.Ala21483=) c.45534T>A (p.Ala15178=) c.45333T>A (p.Ala15111=) c.44958T>A (p.Ala14986=) c.72153T>A (p.Ala24051=) c.67230T>A (p.Ala22410=) n.596+2530A>T n.2044-8593A>T c.71250T>A (p.Ala23750=) c.45144T>A (p.Ala15048=) c.45003T>A (p.Ala15001=) c.71046T>A (p.Ala23682=) c.66444T>A (p.Ala22148=) c.66441T>A (p.Ala22147=) c.63483T>A (p.Ala21161=) c.45099T>A (p.Ala15033=) c.66594T>A (p.Ala22198=) c.66591T>A (p.Ala22197=) c.66024T>A (p.Ala22008=) c.63366T>A (p.Ala21122=) c.63285T>A (p.Ala21095=) c.45048T>A (p.Ala15016=) c.34902T>A (p.Ala11634=) | |
| 2 | g.178573980G>A | CA349648308 | TTN,TTN-AS1 | c.64448C>T (p.Ala21483Val) c.45533C>T (p.Ala15178Val) c.45332C>T (p.Ala15111Val) c.44957C>T (p.Ala14986Val) c.72152C>T (p.Ala24051Val) c.67229C>T (p.Ala22410Val) n.596+2531G>A n.2044-8592G>A c.71249C>T (p.Ala23750Val) c.45143C>T (p.Ala15048Val) c.45002C>T (p.Ala15001Val) c.71045C>T (p.Ala23682Val) c.66443C>T (p.Ala22148Val) c.66440C>T (p.Ala22147Val) c.63482C>T (p.Ala21161Val) c.45098C>T (p.Ala15033Val) c.66593C>T (p.Ala22198Val) c.66590C>T (p.Ala22197Val) c.66023C>T (p.Ala22008Val) c.63365C>T (p.Ala21122Val) c.63284C>T (p.Ala21095Val) c.45047C>T (p.Ala15016Val) c.34901C>T (p.Ala11634Val) | |
| 2 | g.178573980G>C | CA1990538 | TTN,TTN-AS1 | c.64448C>G (p.Ala21483Gly) c.45533C>G (p.Ala15178Gly) c.45332C>G (p.Ala15111Gly) c.44957C>G (p.Ala14986Gly) c.72152C>G (p.Ala24051Gly) c.67229C>G (p.Ala22410Gly) n.596+2531G>C n.2044-8592G>C c.71249C>G (p.Ala23750Gly) c.45143C>G (p.Ala15048Gly) c.45002C>G (p.Ala15001Gly) c.71045C>G (p.Ala23682Gly) c.66443C>G (p.Ala22148Gly) c.66440C>G (p.Ala22147Gly) c.63482C>G (p.Ala21161Gly) c.45098C>G (p.Ala15033Gly) c.66593C>G (p.Ala22198Gly) c.66590C>G (p.Ala22197Gly) c.66023C>G (p.Ala22008Gly) c.63365C>G (p.Ala21122Gly) c.63284C>G (p.Ala21095Gly) c.45047C>G (p.Ala15016Gly) c.34901C>G (p.Ala11634Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178573980G= | CA1310532331 | TTN,TTN-AS1 | c.64448C= (p.Ala21483=) c.45533C= (p.Ala15178=) c.45332C= (p.Ala15111=) c.44957C= (p.Ala14986=) c.72152C= (p.Ala24051=) c.67229C= (p.Ala22410=) n.596+2531G= n.2044-8592G= c.71249C= (p.Ala23750=) c.45143C= (p.Ala15048=) c.45002C= (p.Ala15001=) c.71045C= (p.Ala23682=) c.66443C= (p.Ala22148=) c.66440C= (p.Ala22147=) c.63482C= (p.Ala21161=) c.45098C= (p.Ala15033=) c.66593C= (p.Ala22198=) c.66590C= (p.Ala22197=) c.66023C= (p.Ala22008=) c.63365C= (p.Ala21122=) c.63284C= (p.Ala21095=) c.45047C= (p.Ala15016=) c.34901C= (p.Ala11634=) | |
| 2 | g.178573980G>T | CA349648311 | TTN,TTN-AS1 | c.64448C>A (p.Ala21483Asp) c.45533C>A (p.Ala15178Asp) c.45332C>A (p.Ala15111Asp) c.44957C>A (p.Ala14986Asp) c.72152C>A (p.Ala24051Asp) c.67229C>A (p.Ala22410Asp) n.596+2531G>T n.2044-8592G>T c.71249C>A (p.Ala23750Asp) c.45143C>A (p.Ala15048Asp) c.45002C>A (p.Ala15001Asp) c.71045C>A (p.Ala23682Asp) c.66443C>A (p.Ala22148Asp) c.66440C>A (p.Ala22147Asp) c.63482C>A (p.Ala21161Asp) c.45098C>A (p.Ala15033Asp) c.66593C>A (p.Ala22198Asp) c.66590C>A (p.Ala22197Asp) c.66023C>A (p.Ala22008Asp) c.63365C>A (p.Ala21122Asp) c.63284C>A (p.Ala21095Asp) c.45047C>A (p.Ala15016Asp) c.34901C>A (p.Ala11634Asp) |