| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178591878G>A | CA349488442 | TTN,TTN-AS1 | c.52237C>T (p.Pro17413Ser) c.33322C>T (p.Pro11108Ser) c.33121C>T (p.Pro11041Ser) c.32746C>T (p.Pro10916Ser) c.59941C>T (p.Pro19981Ser) c.55018C>T (p.Pro18340Ser) n.597-5718G>A n.3364+564G>A c.59038C>T (p.Pro19680Ser) c.32932C>T (p.Pro10978Ser) c.32791C>T (p.Pro10931Ser) c.58834C>T (p.Pro19612Ser) c.54232C>T (p.Pro18078Ser) c.54229C>T (p.Pro18077Ser) c.51271C>T (p.Pro17091Ser) c.32887C>T (p.Pro10963Ser) c.54382C>T (p.Pro18128Ser) c.54379C>T (p.Pro18127Ser) c.53812C>T (p.Pro17938Ser) c.51154C>T (p.Pro17052Ser) c.51073C>T (p.Pro17025Ser) c.32836C>T (p.Pro10946Ser) c.22690C>T (p.Pro7564Ser) | dbSNP |
| 2 | g.178591878G>C | CA349488443 | TTN,TTN-AS1 | c.52237C>G (p.Pro17413Ala) c.33322C>G (p.Pro11108Ala) c.33121C>G (p.Pro11041Ala) c.32746C>G (p.Pro10916Ala) c.59941C>G (p.Pro19981Ala) c.55018C>G (p.Pro18340Ala) n.597-5718G>C n.3364+564G>C c.59038C>G (p.Pro19680Ala) c.32932C>G (p.Pro10978Ala) c.32791C>G (p.Pro10931Ala) c.58834C>G (p.Pro19612Ala) c.54232C>G (p.Pro18078Ala) c.54229C>G (p.Pro18077Ala) c.51271C>G (p.Pro17091Ala) c.32887C>G (p.Pro10963Ala) c.54382C>G (p.Pro18128Ala) c.54379C>G (p.Pro18127Ala) c.53812C>G (p.Pro17938Ala) c.51154C>G (p.Pro17052Ala) c.51073C>G (p.Pro17025Ala) c.32836C>G (p.Pro10946Ala) c.22690C>G (p.Pro7564Ala) | |
| 2 | g.178591878G>T | CA349488445 | TTN,TTN-AS1 | c.52237C>A (p.Pro17413Thr) c.33322C>A (p.Pro11108Thr) c.33121C>A (p.Pro11041Thr) c.32746C>A (p.Pro10916Thr) c.59941C>A (p.Pro19981Thr) c.55018C>A (p.Pro18340Thr) n.597-5718G>T n.3364+564G>T c.59038C>A (p.Pro19680Thr) c.32932C>A (p.Pro10978Thr) c.32791C>A (p.Pro10931Thr) c.58834C>A (p.Pro19612Thr) c.54232C>A (p.Pro18078Thr) c.54229C>A (p.Pro18077Thr) c.51271C>A (p.Pro17091Thr) c.32887C>A (p.Pro10963Thr) c.54382C>A (p.Pro18128Thr) c.54379C>A (p.Pro18127Thr) c.53812C>A (p.Pro17938Thr) c.51154C>A (p.Pro17052Thr) c.51073C>A (p.Pro17025Thr) c.32836C>A (p.Pro10946Thr) c.22690C>A (p.Pro7564Thr) | |
| 2 | g.178591879T>A | CA430266933 | TTN,TTN-AS1 | c.52236A>T (p.Pro17412=) c.33321A>T (p.Pro11107=) c.33120A>T (p.Pro11040=) c.32745A>T (p.Pro10915=) c.59940A>T (p.Pro19980=) c.55017A>T (p.Pro18339=) n.597-5717T>A n.3364+565T>A c.59037A>T (p.Pro19679=) c.32931A>T (p.Pro10977=) c.32790A>T (p.Pro10930=) c.58833A>T (p.Pro19611=) c.54231A>T (p.Pro18077=) c.54228A>T (p.Pro18076=) c.51270A>T (p.Pro17090=) c.32886A>T (p.Pro10962=) c.54381A>T (p.Pro18127=) c.54378A>T (p.Pro18126=) c.53811A>T (p.Pro17937=) c.51153A>T (p.Pro17051=) c.51072A>T (p.Pro17024=) c.32835A>T (p.Pro10945=) c.22689A>T (p.Pro7563=) | |
| 2 | g.178591879T>C | CA430266934 | TTN,TTN-AS1 | c.52236A>G (p.Pro17412=) c.33321A>G (p.Pro11107=) c.33120A>G (p.Pro11040=) c.32745A>G (p.Pro10915=) c.59940A>G (p.Pro19980=) c.55017A>G (p.Pro18339=) n.597-5717T>C n.3364+565T>C c.59037A>G (p.Pro19679=) c.32931A>G (p.Pro10977=) c.32790A>G (p.Pro10930=) c.58833A>G (p.Pro19611=) c.54231A>G (p.Pro18077=) c.54228A>G (p.Pro18076=) c.51270A>G (p.Pro17090=) c.32886A>G (p.Pro10962=) c.54381A>G (p.Pro18127=) c.54378A>G (p.Pro18126=) c.53811A>G (p.Pro17937=) c.51153A>G (p.Pro17051=) c.51072A>G (p.Pro17024=) c.32835A>G (p.Pro10945=) c.22689A>G (p.Pro7563=) | |
| 2 | g.178591879T>G | CA430266935 | TTN,TTN-AS1 | c.52236A>C (p.Pro17412=) c.33321A>C (p.Pro11107=) c.33120A>C (p.Pro11040=) c.32745A>C (p.Pro10915=) c.59940A>C (p.Pro19980=) c.55017A>C (p.Pro18339=) n.597-5717T>G n.3364+565T>G c.59037A>C (p.Pro19679=) c.32931A>C (p.Pro10977=) c.32790A>C (p.Pro10930=) c.58833A>C (p.Pro19611=) c.54231A>C (p.Pro18077=) c.54228A>C (p.Pro18076=) c.51270A>C (p.Pro17090=) c.32886A>C (p.Pro10962=) c.54381A>C (p.Pro18127=) c.54378A>C (p.Pro18126=) c.53811A>C (p.Pro17937=) c.51153A>C (p.Pro17051=) c.51072A>C (p.Pro17024=) c.32835A>C (p.Pro10945=) c.22689A>C (p.Pro7563=) | |
| 2 | g.178591880G>A | CA349488448 | TTN,TTN-AS1 | c.52235C>T (p.Pro17412Leu) c.33320C>T (p.Pro11107Leu) c.33119C>T (p.Pro11040Leu) c.32744C>T (p.Pro10915Leu) c.59939C>T (p.Pro19980Leu) c.55016C>T (p.Pro18339Leu) n.597-5716G>A n.3364+566G>A c.59036C>T (p.Pro19679Leu) c.32930C>T (p.Pro10977Leu) c.32789C>T (p.Pro10930Leu) c.58832C>T (p.Pro19611Leu) c.54230C>T (p.Pro18077Leu) c.54227C>T (p.Pro18076Leu) c.51269C>T (p.Pro17090Leu) c.32885C>T (p.Pro10962Leu) c.54380C>T (p.Pro18127Leu) c.54377C>T (p.Pro18126Leu) c.53810C>T (p.Pro17937Leu) c.51152C>T (p.Pro17051Leu) c.51071C>T (p.Pro17024Leu) c.32834C>T (p.Pro10945Leu) c.22688C>T (p.Pro7563Leu) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178591880G>C | CA349488450 | TTN,TTN-AS1 | c.52235C>G (p.Pro17412Arg) c.33320C>G (p.Pro11107Arg) c.33119C>G (p.Pro11040Arg) c.32744C>G (p.Pro10915Arg) c.59939C>G (p.Pro19980Arg) c.55016C>G (p.Pro18339Arg) n.597-5716G>C n.3364+566G>C c.59036C>G (p.Pro19679Arg) c.32930C>G (p.Pro10977Arg) c.32789C>G (p.Pro10930Arg) c.58832C>G (p.Pro19611Arg) c.54230C>G (p.Pro18077Arg) c.54227C>G (p.Pro18076Arg) c.51269C>G (p.Pro17090Arg) c.32885C>G (p.Pro10962Arg) c.54380C>G (p.Pro18127Arg) c.54377C>G (p.Pro18126Arg) c.53810C>G (p.Pro17937Arg) c.51152C>G (p.Pro17051Arg) c.51071C>G (p.Pro17024Arg) c.32834C>G (p.Pro10945Arg) c.22688C>G (p.Pro7563Arg) | |
| 2 | g.178591880G>T | CA349488452 | TTN,TTN-AS1 | c.52235C>A (p.Pro17412Gln) c.33320C>A (p.Pro11107Gln) c.33119C>A (p.Pro11040Gln) c.32744C>A (p.Pro10915Gln) c.59939C>A (p.Pro19980Gln) c.55016C>A (p.Pro18339Gln) n.597-5716G>T n.3364+566G>T c.59036C>A (p.Pro19679Gln) c.32930C>A (p.Pro10977Gln) c.32789C>A (p.Pro10930Gln) c.58832C>A (p.Pro19611Gln) c.54230C>A (p.Pro18077Gln) c.54227C>A (p.Pro18076Gln) c.51269C>A (p.Pro17090Gln) c.32885C>A (p.Pro10962Gln) c.54380C>A (p.Pro18127Gln) c.54377C>A (p.Pro18126Gln) c.53810C>A (p.Pro17937Gln) c.51152C>A (p.Pro17051Gln) c.51071C>A (p.Pro17024Gln) c.32834C>A (p.Pro10945Gln) c.22688C>A (p.Pro7563Gln) | |
| 2 | g.178591881G>A | CA349488461 | TTN,TTN-AS1 | c.52234C>T (p.Pro17412Ser) c.33319C>T (p.Pro11107Ser) c.33118C>T (p.Pro11040Ser) c.32743C>T (p.Pro10915Ser) c.59938C>T (p.Pro19980Ser) c.55015C>T (p.Pro18339Ser) n.597-5715G>A n.3364+567G>A c.59035C>T (p.Pro19679Ser) c.32929C>T (p.Pro10977Ser) c.32788C>T (p.Pro10930Ser) c.58831C>T (p.Pro19611Ser) c.54229C>T (p.Pro18077Ser) c.54226C>T (p.Pro18076Ser) c.51268C>T (p.Pro17090Ser) c.32884C>T (p.Pro10962Ser) c.54379C>T (p.Pro18127Ser) c.54376C>T (p.Pro18126Ser) c.53809C>T (p.Pro17937Ser) c.51151C>T (p.Pro17051Ser) c.51070C>T (p.Pro17024Ser) c.32833C>T (p.Pro10945Ser) c.22687C>T (p.Pro7563Ser) | |
| 2 | g.178591881G>C | CA349488471 | TTN,TTN-AS1 | c.52234C>G (p.Pro17412Ala) c.33319C>G (p.Pro11107Ala) c.33118C>G (p.Pro11040Ala) c.32743C>G (p.Pro10915Ala) c.59938C>G (p.Pro19980Ala) c.55015C>G (p.Pro18339Ala) n.597-5715G>C n.3364+567G>C c.59035C>G (p.Pro19679Ala) c.32929C>G (p.Pro10977Ala) c.32788C>G (p.Pro10930Ala) c.58831C>G (p.Pro19611Ala) c.54229C>G (p.Pro18077Ala) c.54226C>G (p.Pro18076Ala) c.51268C>G (p.Pro17090Ala) c.32884C>G (p.Pro10962Ala) c.54379C>G (p.Pro18127Ala) c.54376C>G (p.Pro18126Ala) c.53809C>G (p.Pro17937Ala) c.51151C>G (p.Pro17051Ala) c.51070C>G (p.Pro17024Ala) c.32833C>G (p.Pro10945Ala) c.22687C>G (p.Pro7563Ala) | gnomAD v4 |
| 2 | g.178591881G>T | CA349488474 | TTN,TTN-AS1 | c.52234C>A (p.Pro17412Thr) c.33319C>A (p.Pro11107Thr) c.33118C>A (p.Pro11040Thr) c.32743C>A (p.Pro10915Thr) c.59938C>A (p.Pro19980Thr) c.55015C>A (p.Pro18339Thr) n.597-5715G>T n.3364+567G>T c.59035C>A (p.Pro19679Thr) c.32929C>A (p.Pro10977Thr) c.32788C>A (p.Pro10930Thr) c.58831C>A (p.Pro19611Thr) c.54229C>A (p.Pro18077Thr) c.54226C>A (p.Pro18076Thr) c.51268C>A (p.Pro17090Thr) c.32884C>A (p.Pro10962Thr) c.54379C>A (p.Pro18127Thr) c.54376C>A (p.Pro18126Thr) c.53809C>A (p.Pro17937Thr) c.51151C>A (p.Pro17051Thr) c.51070C>A (p.Pro17024Thr) c.32833C>A (p.Pro10945Thr) c.22687C>A (p.Pro7563Thr) | |
| 2 | g.178591882C>A | CA430266946 | TTN,TTN-AS1 | c.52233G>T (p.Gly17411=) c.33318G>T (p.Gly11106=) c.33117G>T (p.Gly11039=) c.32742G>T (p.Gly10914=) c.59937G>T (p.Gly19979=) c.55014G>T (p.Gly18338=) n.597-5714C>A n.3364+568C>A c.59034G>T (p.Gly19678=) c.32928G>T (p.Gly10976=) c.32787G>T (p.Gly10929=) c.58830G>T (p.Gly19610=) c.54228G>T (p.Gly18076=) c.54225G>T (p.Gly18075=) c.51267G>T (p.Gly17089=) c.32883G>T (p.Gly10961=) c.54378G>T (p.Gly18126=) c.54375G>T (p.Gly18125=) c.53808G>T (p.Gly17936=) c.51150G>T (p.Gly17050=) c.51069G>T (p.Gly17023=) c.32832G>T (p.Gly10944=) c.22686G>T (p.Gly7562=) | ClinVar |
| 2 | g.178591882C= | CA1310540441 | TTN,TTN-AS1 | c.52233G= (p.Gly17411=) c.33318G= (p.Gly11106=) c.33117G= (p.Gly11039=) c.32742G= (p.Gly10914=) c.59937G= (p.Gly19979=) c.55014G= (p.Gly18338=) n.597-5714C= n.3364+568C= c.59034G= (p.Gly19678=) c.32928G= (p.Gly10976=) c.32787G= (p.Gly10929=) c.58830G= (p.Gly19610=) c.54228G= (p.Gly18076=) c.54225G= (p.Gly18075=) c.51267G= (p.Gly17089=) c.32883G= (p.Gly10961=) c.54378G= (p.Gly18126=) c.54375G= (p.Gly18125=) c.53808G= (p.Gly17936=) c.51150G= (p.Gly17050=) c.51069G= (p.Gly17023=) c.32832G= (p.Gly10944=) c.22686G= (p.Gly7562=) | |
| 2 | g.178591882C>G | CA430266945 | TTN,TTN-AS1 | c.52233G>C (p.Gly17411=) c.33318G>C (p.Gly11106=) c.33117G>C (p.Gly11039=) c.32742G>C (p.Gly10914=) c.59937G>C (p.Gly19979=) c.55014G>C (p.Gly18338=) n.597-5714C>G n.3364+568C>G c.59034G>C (p.Gly19678=) c.32928G>C (p.Gly10976=) c.32787G>C (p.Gly10929=) c.58830G>C (p.Gly19610=) c.54228G>C (p.Gly18076=) c.54225G>C (p.Gly18075=) c.51267G>C (p.Gly17089=) c.32883G>C (p.Gly10961=) c.54378G>C (p.Gly18126=) c.54375G>C (p.Gly18125=) c.53808G>C (p.Gly17936=) c.51150G>C (p.Gly17050=) c.51069G>C (p.Gly17023=) c.32832G>C (p.Gly10944=) c.22686G>C (p.Gly7562=) | |
| 2 | g.178591882C>T | CA185068 | TTN,TTN-AS1 | c.52233G>A (p.Gly17411=) c.33318G>A (p.Gly11106=) c.33117G>A (p.Gly11039=) c.32742G>A (p.Gly10914=) c.59937G>A (p.Gly19979=) c.55014G>A (p.Gly18338=) n.597-5714C>T n.3364+568C>T c.59034G>A (p.Gly19678=) c.32928G>A (p.Gly10976=) c.32787G>A (p.Gly10929=) c.58830G>A (p.Gly19610=) c.54228G>A (p.Gly18076=) c.54225G>A (p.Gly18075=) c.51267G>A (p.Gly17089=) c.32883G>A (p.Gly10961=) c.54378G>A (p.Gly18126=) c.54375G>A (p.Gly18125=) c.53808G>A (p.Gly17936=) c.51150G>A (p.Gly17050=) c.51069G>A (p.Gly17023=) c.32832G>A (p.Gly10944=) c.22686G>A (p.Gly7562=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178591883C>A | CA349488478 | TTN,TTN-AS1 | c.52232G>T (p.Gly17411Val) c.33317G>T (p.Gly11106Val) c.33116G>T (p.Gly11039Val) c.32741G>T (p.Gly10914Val) c.59936G>T (p.Gly19979Val) c.55013G>T (p.Gly18338Val) n.597-5713C>A n.3364+569C>A c.59033G>T (p.Gly19678Val) c.32927G>T (p.Gly10976Val) c.32786G>T (p.Gly10929Val) c.58829G>T (p.Gly19610Val) c.54227G>T (p.Gly18076Val) c.54224G>T (p.Gly18075Val) c.51266G>T (p.Gly17089Val) c.32882G>T (p.Gly10961Val) c.54377G>T (p.Gly18126Val) c.54374G>T (p.Gly18125Val) c.53807G>T (p.Gly17936Val) c.51149G>T (p.Gly17050Val) c.51068G>T (p.Gly17023Val) c.32831G>T (p.Gly10944Val) c.22685G>T (p.Gly7562Val) | |
| 2 | g.178591883C>G | CA349488479 | TTN,TTN-AS1 | c.52232G>C (p.Gly17411Ala) c.33317G>C (p.Gly11106Ala) c.33116G>C (p.Gly11039Ala) c.32741G>C (p.Gly10914Ala) c.59936G>C (p.Gly19979Ala) c.55013G>C (p.Gly18338Ala) n.597-5713C>G n.3364+569C>G c.59033G>C (p.Gly19678Ala) c.32927G>C (p.Gly10976Ala) c.32786G>C (p.Gly10929Ala) c.58829G>C (p.Gly19610Ala) c.54227G>C (p.Gly18076Ala) c.54224G>C (p.Gly18075Ala) c.51266G>C (p.Gly17089Ala) c.32882G>C (p.Gly10961Ala) c.54377G>C (p.Gly18126Ala) c.54374G>C (p.Gly18125Ala) c.53807G>C (p.Gly17936Ala) c.51149G>C (p.Gly17050Ala) c.51068G>C (p.Gly17023Ala) c.32831G>C (p.Gly10944Ala) c.22685G>C (p.Gly7562Ala) | |
| 2 | g.178591883C>T | CA349488480 | TTN,TTN-AS1 | c.52232G>A (p.Gly17411Glu) c.33317G>A (p.Gly11106Glu) c.33116G>A (p.Gly11039Glu) c.32741G>A (p.Gly10914Glu) c.59936G>A (p.Gly19979Glu) c.55013G>A (p.Gly18338Glu) n.597-5713C>T n.3364+569C>T c.59033G>A (p.Gly19678Glu) c.32927G>A (p.Gly10976Glu) c.32786G>A (p.Gly10929Glu) c.58829G>A (p.Gly19610Glu) c.54227G>A (p.Gly18076Glu) c.54224G>A (p.Gly18075Glu) c.51266G>A (p.Gly17089Glu) c.32882G>A (p.Gly10961Glu) c.54377G>A (p.Gly18126Glu) c.54374G>A (p.Gly18125Glu) c.53807G>A (p.Gly17936Glu) c.51149G>A (p.Gly17050Glu) c.51068G>A (p.Gly17023Glu) c.32831G>A (p.Gly10944Glu) c.22685G>A (p.Gly7562Glu) | |
| 2 | g.178591884C>A | CA349488488 | TTN,TTN-AS1 | c.52231G>T (p.Gly17411Trp) c.33316G>T (p.Gly11106Trp) c.33115G>T (p.Gly11039Trp) c.32740G>T (p.Gly10914Trp) c.59935G>T (p.Gly19979Trp) c.55012G>T (p.Gly18338Trp) n.597-5712C>A n.3364+570C>A c.59032G>T (p.Gly19678Trp) c.32926G>T (p.Gly10976Trp) c.32785G>T (p.Gly10929Trp) c.58828G>T (p.Gly19610Trp) c.54226G>T (p.Gly18076Trp) c.54223G>T (p.Gly18075Trp) c.51265G>T (p.Gly17089Trp) c.32881G>T (p.Gly10961Trp) c.54376G>T (p.Gly18126Trp) c.54373G>T (p.Gly18125Trp) c.53806G>T (p.Gly17936Trp) c.51148G>T (p.Gly17050Trp) c.51067G>T (p.Gly17023Trp) c.32830G>T (p.Gly10944Trp) c.22684G>T (p.Gly7562Trp) | |
| 2 | g.178591884C>G | CA349488486 | TTN,TTN-AS1 | c.52231G>C (p.Gly17411Arg) c.33316G>C (p.Gly11106Arg) c.33115G>C (p.Gly11039Arg) c.32740G>C (p.Gly10914Arg) c.59935G>C (p.Gly19979Arg) c.55012G>C (p.Gly18338Arg) n.597-5712C>G n.3364+570C>G c.59032G>C (p.Gly19678Arg) c.32926G>C (p.Gly10976Arg) c.32785G>C (p.Gly10929Arg) c.58828G>C (p.Gly19610Arg) c.54226G>C (p.Gly18076Arg) c.54223G>C (p.Gly18075Arg) c.51265G>C (p.Gly17089Arg) c.32881G>C (p.Gly10961Arg) c.54376G>C (p.Gly18126Arg) c.54373G>C (p.Gly18125Arg) c.53806G>C (p.Gly17936Arg) c.51148G>C (p.Gly17050Arg) c.51067G>C (p.Gly17023Arg) c.32830G>C (p.Gly10944Arg) c.22684G>C (p.Gly7562Arg) | |
| 2 | g.178591884C>T | CA349488483 | TTN,TTN-AS1 | c.52231G>A (p.Gly17411Arg) c.33316G>A (p.Gly11106Arg) c.33115G>A (p.Gly11039Arg) c.32740G>A (p.Gly10914Arg) c.59935G>A (p.Gly19979Arg) c.55012G>A (p.Gly18338Arg) n.597-5712C>T n.3364+570C>T c.59032G>A (p.Gly19678Arg) c.32926G>A (p.Gly10976Arg) c.32785G>A (p.Gly10929Arg) c.58828G>A (p.Gly19610Arg) c.54226G>A (p.Gly18076Arg) c.54223G>A (p.Gly18075Arg) c.51265G>A (p.Gly17089Arg) c.32881G>A (p.Gly10961Arg) c.54376G>A (p.Gly18126Arg) c.54373G>A (p.Gly18125Arg) c.53806G>A (p.Gly17936Arg) c.51148G>A (p.Gly17050Arg) c.51067G>A (p.Gly17023Arg) c.32830G>A (p.Gly10944Arg) c.22684G>A (p.Gly7562Arg) | |
| 2 | g.178591885T>A | CA430266951 | TTN,TTN-AS1 | c.52230A>T (p.Pro17410=) c.33315A>T (p.Pro11105=) c.33114A>T (p.Pro11038=) c.32739A>T (p.Pro10913=) c.59934A>T (p.Pro19978=) c.55011A>T (p.Pro18337=) n.597-5711T>A n.3364+571T>A c.59031A>T (p.Pro19677=) c.32925A>T (p.Pro10975=) c.32784A>T (p.Pro10928=) c.58827A>T (p.Pro19609=) c.54225A>T (p.Pro18075=) c.54222A>T (p.Pro18074=) c.51264A>T (p.Pro17088=) c.32880A>T (p.Pro10960=) c.54375A>T (p.Pro18125=) c.54372A>T (p.Pro18124=) c.53805A>T (p.Pro17935=) c.51147A>T (p.Pro17049=) c.51066A>T (p.Pro17022=) c.32829A>T (p.Pro10943=) c.22683A>T (p.Pro7561=) | |
| 2 | g.178591885T>C | CA430266952 | TTN,TTN-AS1 | c.52230A>G (p.Pro17410=) c.33315A>G (p.Pro11105=) c.33114A>G (p.Pro11038=) c.32739A>G (p.Pro10913=) c.59934A>G (p.Pro19978=) c.55011A>G (p.Pro18337=) n.597-5711T>C n.3364+571T>C c.59031A>G (p.Pro19677=) c.32925A>G (p.Pro10975=) c.32784A>G (p.Pro10928=) c.58827A>G (p.Pro19609=) c.54225A>G (p.Pro18075=) c.54222A>G (p.Pro18074=) c.51264A>G (p.Pro17088=) c.32880A>G (p.Pro10960=) c.54375A>G (p.Pro18125=) c.54372A>G (p.Pro18124=) c.53805A>G (p.Pro17935=) c.51147A>G (p.Pro17049=) c.51066A>G (p.Pro17022=) c.32829A>G (p.Pro10943=) c.22683A>G (p.Pro7561=) | ClinVar dbSNP |
| 2 | g.178591885T>G | CA430266953 | TTN,TTN-AS1 | c.52230A>C (p.Pro17410=) c.33315A>C (p.Pro11105=) c.33114A>C (p.Pro11038=) c.32739A>C (p.Pro10913=) c.59934A>C (p.Pro19978=) c.55011A>C (p.Pro18337=) n.597-5711T>G n.3364+571T>G c.59031A>C (p.Pro19677=) c.32925A>C (p.Pro10975=) c.32784A>C (p.Pro10928=) c.58827A>C (p.Pro19609=) c.54225A>C (p.Pro18075=) c.54222A>C (p.Pro18074=) c.51264A>C (p.Pro17088=) c.32880A>C (p.Pro10960=) c.54375A>C (p.Pro18125=) c.54372A>C (p.Pro18124=) c.53805A>C (p.Pro17935=) c.51147A>C (p.Pro17049=) c.51066A>C (p.Pro17022=) c.32829A>C (p.Pro10943=) c.22683A>C (p.Pro7561=) | |
| 2 | g.178591886G>A | CA349488501 | TTN,TTN-AS1 | c.52229C>T (p.Pro17410Leu) c.33314C>T (p.Pro11105Leu) c.33113C>T (p.Pro11038Leu) c.32738C>T (p.Pro10913Leu) c.59933C>T (p.Pro19978Leu) c.55010C>T (p.Pro18337Leu) n.597-5710G>A n.3364+572G>A c.59030C>T (p.Pro19677Leu) c.32924C>T (p.Pro10975Leu) c.32783C>T (p.Pro10928Leu) c.58826C>T (p.Pro19609Leu) c.54224C>T (p.Pro18075Leu) c.54221C>T (p.Pro18074Leu) c.51263C>T (p.Pro17088Leu) c.32879C>T (p.Pro10960Leu) c.54374C>T (p.Pro18125Leu) c.54371C>T (p.Pro18124Leu) c.53804C>T (p.Pro17935Leu) c.51146C>T (p.Pro17049Leu) c.51065C>T (p.Pro17022Leu) c.32828C>T (p.Pro10943Leu) c.22682C>T (p.Pro7561Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178591886G>C | CA349488492 | TTN,TTN-AS1 | c.52229C>G (p.Pro17410Arg) c.33314C>G (p.Pro11105Arg) c.33113C>G (p.Pro11038Arg) c.32738C>G (p.Pro10913Arg) c.59933C>G (p.Pro19978Arg) c.55010C>G (p.Pro18337Arg) n.597-5710G>C n.3364+572G>C c.59030C>G (p.Pro19677Arg) c.32924C>G (p.Pro10975Arg) c.32783C>G (p.Pro10928Arg) c.58826C>G (p.Pro19609Arg) c.54224C>G (p.Pro18075Arg) c.54221C>G (p.Pro18074Arg) c.51263C>G (p.Pro17088Arg) c.32879C>G (p.Pro10960Arg) c.54374C>G (p.Pro18125Arg) c.54371C>G (p.Pro18124Arg) c.53804C>G (p.Pro17935Arg) c.51146C>G (p.Pro17049Arg) c.51065C>G (p.Pro17022Arg) c.32828C>G (p.Pro10943Arg) c.22682C>G (p.Pro7561Arg) | |
| 2 | g.178591886G= | CA1310540443 | TTN,TTN-AS1 | c.52229C= (p.Pro17410=) c.33314C= (p.Pro11105=) c.33113C= (p.Pro11038=) c.32738C= (p.Pro10913=) c.59933C= (p.Pro19978=) c.55010C= (p.Pro18337=) n.597-5710G= n.3364+572G= c.59030C= (p.Pro19677=) c.32924C= (p.Pro10975=) c.32783C= (p.Pro10928=) c.58826C= (p.Pro19609=) c.54224C= (p.Pro18075=) c.54221C= (p.Pro18074=) c.51263C= (p.Pro17088=) c.32879C= (p.Pro10960=) c.54374C= (p.Pro18125=) c.54371C= (p.Pro18124=) c.53804C= (p.Pro17935=) c.51146C= (p.Pro17049=) c.51065C= (p.Pro17022=) c.32828C= (p.Pro10943=) c.22682C= (p.Pro7561=) | |
| 2 | g.178591886G>T | CA349488503 | TTN,TTN-AS1 | c.52229C>A (p.Pro17410Gln) c.33314C>A (p.Pro11105Gln) c.33113C>A (p.Pro11038Gln) c.32738C>A (p.Pro10913Gln) c.59933C>A (p.Pro19978Gln) c.55010C>A (p.Pro18337Gln) n.597-5710G>T n.3364+572G>T c.59030C>A (p.Pro19677Gln) c.32924C>A (p.Pro10975Gln) c.32783C>A (p.Pro10928Gln) c.58826C>A (p.Pro19609Gln) c.54224C>A (p.Pro18075Gln) c.54221C>A (p.Pro18074Gln) c.51263C>A (p.Pro17088Gln) c.32879C>A (p.Pro10960Gln) c.54374C>A (p.Pro18125Gln) c.54371C>A (p.Pro18124Gln) c.53804C>A (p.Pro17935Gln) c.51146C>A (p.Pro17049Gln) c.51065C>A (p.Pro17022Gln) c.32828C>A (p.Pro10943Gln) c.22682C>A (p.Pro7561Gln) | |
| 2 | g.178591887G>A | CA349488508 | TTN,TTN-AS1 | c.52228C>T (p.Pro17410Ser) c.33313C>T (p.Pro11105Ser) c.33112C>T (p.Pro11038Ser) c.32737C>T (p.Pro10913Ser) c.59932C>T (p.Pro19978Ser) c.55009C>T (p.Pro18337Ser) n.597-5709G>A n.3364+573G>A c.59029C>T (p.Pro19677Ser) c.32923C>T (p.Pro10975Ser) c.32782C>T (p.Pro10928Ser) c.58825C>T (p.Pro19609Ser) c.54223C>T (p.Pro18075Ser) c.54220C>T (p.Pro18074Ser) c.51262C>T (p.Pro17088Ser) c.32878C>T (p.Pro10960Ser) c.54373C>T (p.Pro18125Ser) c.54370C>T (p.Pro18124Ser) c.53803C>T (p.Pro17935Ser) c.51145C>T (p.Pro17049Ser) c.51064C>T (p.Pro17022Ser) c.32827C>T (p.Pro10943Ser) c.22681C>T (p.Pro7561Ser) | |
| 2 | g.178591887G>C | CA349488512 | TTN,TTN-AS1 | c.52228C>G (p.Pro17410Ala) c.33313C>G (p.Pro11105Ala) c.33112C>G (p.Pro11038Ala) c.32737C>G (p.Pro10913Ala) c.59932C>G (p.Pro19978Ala) c.55009C>G (p.Pro18337Ala) n.597-5709G>C n.3364+573G>C c.59029C>G (p.Pro19677Ala) c.32923C>G (p.Pro10975Ala) c.32782C>G (p.Pro10928Ala) c.58825C>G (p.Pro19609Ala) c.54223C>G (p.Pro18075Ala) c.54220C>G (p.Pro18074Ala) c.51262C>G (p.Pro17088Ala) c.32878C>G (p.Pro10960Ala) c.54373C>G (p.Pro18125Ala) c.54370C>G (p.Pro18124Ala) c.53803C>G (p.Pro17935Ala) c.51145C>G (p.Pro17049Ala) c.51064C>G (p.Pro17022Ala) c.32827C>G (p.Pro10943Ala) c.22681C>G (p.Pro7561Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178591887G= | CA1310540445 | TTN,TTN-AS1 | c.52228C= (p.Pro17410=) c.33313C= (p.Pro11105=) c.33112C= (p.Pro11038=) c.32737C= (p.Pro10913=) c.59932C= (p.Pro19978=) c.55009C= (p.Pro18337=) n.597-5709G= n.3364+573G= c.59029C= (p.Pro19677=) c.32923C= (p.Pro10975=) c.32782C= (p.Pro10928=) c.58825C= (p.Pro19609=) c.54223C= (p.Pro18075=) c.54220C= (p.Pro18074=) c.51262C= (p.Pro17088=) c.32878C= (p.Pro10960=) c.54373C= (p.Pro18125=) c.54370C= (p.Pro18124=) c.53803C= (p.Pro17935=) c.51145C= (p.Pro17049=) c.51064C= (p.Pro17022=) c.32827C= (p.Pro10943=) c.22681C= (p.Pro7561=) | |
| 2 | g.178591887G>T | CA349488513 | TTN,TTN-AS1 | c.52228C>A (p.Pro17410Thr) c.33313C>A (p.Pro11105Thr) c.33112C>A (p.Pro11038Thr) c.32737C>A (p.Pro10913Thr) c.59932C>A (p.Pro19978Thr) c.55009C>A (p.Pro18337Thr) n.597-5709G>T n.3364+573G>T c.59029C>A (p.Pro19677Thr) c.32923C>A (p.Pro10975Thr) c.32782C>A (p.Pro10928Thr) c.58825C>A (p.Pro19609Thr) c.54223C>A (p.Pro18075Thr) c.54220C>A (p.Pro18074Thr) c.51262C>A (p.Pro17088Thr) c.32878C>A (p.Pro10960Thr) c.54373C>A (p.Pro18125Thr) c.54370C>A (p.Pro18124Thr) c.53803C>A (p.Pro17935Thr) c.51145C>A (p.Pro17049Thr) c.51064C>A (p.Pro17022Thr) c.32827C>A (p.Pro10943Thr) c.22681C>A (p.Pro7561Thr) | |
| 2 | g.178591888G>A | CA430266958 | TTN,TTN-AS1 | c.52227C>T (p.Pro17409=) c.33312C>T (p.Pro11104=) c.33111C>T (p.Pro11037=) c.32736C>T (p.Pro10912=) c.59931C>T (p.Pro19977=) c.55008C>T (p.Pro18336=) n.597-5708G>A n.3364+574G>A c.59028C>T (p.Pro19676=) c.32922C>T (p.Pro10974=) c.32781C>T (p.Pro10927=) c.58824C>T (p.Pro19608=) c.54222C>T (p.Pro18074=) c.54219C>T (p.Pro18073=) c.51261C>T (p.Pro17087=) c.32877C>T (p.Pro10959=) c.54372C>T (p.Pro18124=) c.54369C>T (p.Pro18123=) c.53802C>T (p.Pro17934=) c.51144C>T (p.Pro17048=) c.51063C>T (p.Pro17021=) c.32826C>T (p.Pro10942=) c.22680C>T (p.Pro7560=) | gnomAD v4 |
| 2 | g.178591888G>C | CA430266961 | TTN,TTN-AS1 | c.52227C>G (p.Pro17409=) c.33312C>G (p.Pro11104=) c.33111C>G (p.Pro11037=) c.32736C>G (p.Pro10912=) c.59931C>G (p.Pro19977=) c.55008C>G (p.Pro18336=) n.597-5708G>C n.3364+574G>C c.59028C>G (p.Pro19676=) c.32922C>G (p.Pro10974=) c.32781C>G (p.Pro10927=) c.58824C>G (p.Pro19608=) c.54222C>G (p.Pro18074=) c.54219C>G (p.Pro18073=) c.51261C>G (p.Pro17087=) c.32877C>G (p.Pro10959=) c.54372C>G (p.Pro18124=) c.54369C>G (p.Pro18123=) c.53802C>G (p.Pro17934=) c.51144C>G (p.Pro17048=) c.51063C>G (p.Pro17021=) c.32826C>G (p.Pro10942=) c.22680C>G (p.Pro7560=) | |
| 2 | g.178591888G>T | CA430266959 | TTN,TTN-AS1 | c.52227C>A (p.Pro17409=) c.33312C>A (p.Pro11104=) c.33111C>A (p.Pro11037=) c.32736C>A (p.Pro10912=) c.59931C>A (p.Pro19977=) c.55008C>A (p.Pro18336=) n.597-5708G>T n.3364+574G>T c.59028C>A (p.Pro19676=) c.32922C>A (p.Pro10974=) c.32781C>A (p.Pro10927=) c.58824C>A (p.Pro19608=) c.54222C>A (p.Pro18074=) c.54219C>A (p.Pro18073=) c.51261C>A (p.Pro17087=) c.32877C>A (p.Pro10959=) c.54372C>A (p.Pro18124=) c.54369C>A (p.Pro18123=) c.53802C>A (p.Pro17934=) c.51144C>A (p.Pro17048=) c.51063C>A (p.Pro17021=) c.32826C>A (p.Pro10942=) c.22680C>A (p.Pro7560=) | |
| 2 | g.178591889G>A | CA349488514 | TTN,TTN-AS1 | c.52226C>T (p.Pro17409Leu) c.33311C>T (p.Pro11104Leu) c.33110C>T (p.Pro11037Leu) c.32735C>T (p.Pro10912Leu) c.59930C>T (p.Pro19977Leu) c.55007C>T (p.Pro18336Leu) n.597-5707G>A n.3364+575G>A c.59027C>T (p.Pro19676Leu) c.32921C>T (p.Pro10974Leu) c.32780C>T (p.Pro10927Leu) c.58823C>T (p.Pro19608Leu) c.54221C>T (p.Pro18074Leu) c.54218C>T (p.Pro18073Leu) c.51260C>T (p.Pro17087Leu) c.32876C>T (p.Pro10959Leu) c.54371C>T (p.Pro18124Leu) c.54368C>T (p.Pro18123Leu) c.53801C>T (p.Pro17934Leu) c.51143C>T (p.Pro17048Leu) c.51062C>T (p.Pro17021Leu) c.32825C>T (p.Pro10942Leu) c.22679C>T (p.Pro7560Leu) | |
| 2 | g.178591889G>C | CA349488515 | TTN,TTN-AS1 | c.52226C>G (p.Pro17409Arg) c.33311C>G (p.Pro11104Arg) c.33110C>G (p.Pro11037Arg) c.32735C>G (p.Pro10912Arg) c.59930C>G (p.Pro19977Arg) c.55007C>G (p.Pro18336Arg) n.597-5707G>C n.3364+575G>C c.59027C>G (p.Pro19676Arg) c.32921C>G (p.Pro10974Arg) c.32780C>G (p.Pro10927Arg) c.58823C>G (p.Pro19608Arg) c.54221C>G (p.Pro18074Arg) c.54218C>G (p.Pro18073Arg) c.51260C>G (p.Pro17087Arg) c.32876C>G (p.Pro10959Arg) c.54371C>G (p.Pro18124Arg) c.54368C>G (p.Pro18123Arg) c.53801C>G (p.Pro17934Arg) c.51143C>G (p.Pro17048Arg) c.51062C>G (p.Pro17021Arg) c.32825C>G (p.Pro10942Arg) c.22679C>G (p.Pro7560Arg) | |
| 2 | g.178591889G>T | CA349488516 | TTN,TTN-AS1 | c.52226C>A (p.Pro17409His) c.33311C>A (p.Pro11104His) c.33110C>A (p.Pro11037His) c.32735C>A (p.Pro10912His) c.59930C>A (p.Pro19977His) c.55007C>A (p.Pro18336His) n.597-5707G>T n.3364+575G>T c.59027C>A (p.Pro19676His) c.32921C>A (p.Pro10974His) c.32780C>A (p.Pro10927His) c.58823C>A (p.Pro19608His) c.54221C>A (p.Pro18074His) c.54218C>A (p.Pro18073His) c.51260C>A (p.Pro17087His) c.32876C>A (p.Pro10959His) c.54371C>A (p.Pro18124His) c.54368C>A (p.Pro18123His) c.53801C>A (p.Pro17934His) c.51143C>A (p.Pro17048His) c.51062C>A (p.Pro17021His) c.32825C>A (p.Pro10942His) c.22679C>A (p.Pro7560His) | |
| 2 | g.178591890G>A | CA349488521 | TTN,TTN-AS1 | c.52225C>T (p.Pro17409Ser) c.33310C>T (p.Pro11104Ser) c.33109C>T (p.Pro11037Ser) c.32734C>T (p.Pro10912Ser) c.59929C>T (p.Pro19977Ser) c.55006C>T (p.Pro18336Ser) n.597-5706G>A n.3364+576G>A c.59026C>T (p.Pro19676Ser) c.32920C>T (p.Pro10974Ser) c.32779C>T (p.Pro10927Ser) c.58822C>T (p.Pro19608Ser) c.54220C>T (p.Pro18074Ser) c.54217C>T (p.Pro18073Ser) c.51259C>T (p.Pro17087Ser) c.32875C>T (p.Pro10959Ser) c.54370C>T (p.Pro18124Ser) c.54367C>T (p.Pro18123Ser) c.53800C>T (p.Pro17934Ser) c.51142C>T (p.Pro17048Ser) c.51061C>T (p.Pro17021Ser) c.32824C>T (p.Pro10942Ser) c.22678C>T (p.Pro7560Ser) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178591890G>C | CA349488517 | TTN,TTN-AS1 | c.52225C>G (p.Pro17409Ala) c.33310C>G (p.Pro11104Ala) c.33109C>G (p.Pro11037Ala) c.32734C>G (p.Pro10912Ala) c.59929C>G (p.Pro19977Ala) c.55006C>G (p.Pro18336Ala) n.597-5706G>C n.3364+576G>C c.59026C>G (p.Pro19676Ala) c.32920C>G (p.Pro10974Ala) c.32779C>G (p.Pro10927Ala) c.58822C>G (p.Pro19608Ala) c.54220C>G (p.Pro18074Ala) c.54217C>G (p.Pro18073Ala) c.51259C>G (p.Pro17087Ala) c.32875C>G (p.Pro10959Ala) c.54370C>G (p.Pro18124Ala) c.54367C>G (p.Pro18123Ala) c.53800C>G (p.Pro17934Ala) c.51142C>G (p.Pro17048Ala) c.51061C>G (p.Pro17021Ala) c.32824C>G (p.Pro10942Ala) c.22678C>G (p.Pro7560Ala) | |
| 2 | g.178591890G= | CA1310540447 | TTN,TTN-AS1 | c.52225C= (p.Pro17409=) c.33310C= (p.Pro11104=) c.33109C= (p.Pro11037=) c.32734C= (p.Pro10912=) c.59929C= (p.Pro19977=) c.55006C= (p.Pro18336=) n.597-5706G= n.3364+576G= c.59026C= (p.Pro19676=) c.32920C= (p.Pro10974=) c.32779C= (p.Pro10927=) c.58822C= (p.Pro19608=) c.54220C= (p.Pro18074=) c.54217C= (p.Pro18073=) c.51259C= (p.Pro17087=) c.32875C= (p.Pro10959=) c.54370C= (p.Pro18124=) c.54367C= (p.Pro18123=) c.53800C= (p.Pro17934=) c.51142C= (p.Pro17048=) c.51061C= (p.Pro17021=) c.32824C= (p.Pro10942=) c.22678C= (p.Pro7560=) | |
| 2 | g.178591890G>T | CA1992571 | TTN,TTN-AS1 | c.52225C>A (p.Pro17409Thr) c.33310C>A (p.Pro11104Thr) c.33109C>A (p.Pro11037Thr) c.32734C>A (p.Pro10912Thr) c.59929C>A (p.Pro19977Thr) c.55006C>A (p.Pro18336Thr) n.597-5706G>T n.3364+576G>T c.59026C>A (p.Pro19676Thr) c.32920C>A (p.Pro10974Thr) c.32779C>A (p.Pro10927Thr) c.58822C>A (p.Pro19608Thr) c.54220C>A (p.Pro18074Thr) c.54217C>A (p.Pro18073Thr) c.51259C>A (p.Pro17087Thr) c.32875C>A (p.Pro10959Thr) c.54370C>A (p.Pro18124Thr) c.54367C>A (p.Pro18123Thr) c.53800C>A (p.Pro17934Thr) c.51142C>A (p.Pro17048Thr) c.51061C>A (p.Pro17021Thr) c.32824C>A (p.Pro10942Thr) c.22678C>A (p.Pro7560Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178591891A= | CA1310540449 | TTN,TTN-AS1 | c.52224T= (p.His17408=) c.33309T= (p.His11103=) c.33108T= (p.His11036=) c.32733T= (p.His10911=) c.59928T= (p.His19976=) c.55005T= (p.His18335=) n.597-5705A= n.3364+577A= c.59025T= (p.His19675=) c.32919T= (p.His10973=) c.32778T= (p.His10926=) c.58821T= (p.His19607=) c.54219T= (p.His18073=) c.54216T= (p.His18072=) c.51258T= (p.His17086=) c.32874T= (p.His10958=) c.54369T= (p.His18123=) c.54366T= (p.His18122=) c.53799T= (p.His17933=) c.51141T= (p.His17047=) c.51060T= (p.His17020=) c.32823T= (p.His10941=) c.22677T= (p.His7559=) | |
| 2 | g.178591891A>C | CA349488525 | TTN,TTN-AS1 | c.52224T>G (p.His17408Gln) c.33309T>G (p.His11103Gln) c.33108T>G (p.His11036Gln) c.32733T>G (p.His10911Gln) c.59928T>G (p.His19976Gln) c.55005T>G (p.His18335Gln) n.597-5705A>C n.3364+577A>C c.59025T>G (p.His19675Gln) c.32919T>G (p.His10973Gln) c.32778T>G (p.His10926Gln) c.58821T>G (p.His19607Gln) c.54219T>G (p.His18073Gln) c.54216T>G (p.His18072Gln) c.51258T>G (p.His17086Gln) c.32874T>G (p.His10958Gln) c.54369T>G (p.His18123Gln) c.54366T>G (p.His18122Gln) c.53799T>G (p.His17933Gln) c.51141T>G (p.His17047Gln) c.51060T>G (p.His17020Gln) c.32823T>G (p.His10941Gln) c.22677T>G (p.His7559Gln) | |
| 2 | g.178591891A>G | CA430266964 | TTN,TTN-AS1 | c.52224T>C (p.His17408=) c.33309T>C (p.His11103=) c.33108T>C (p.His11036=) c.32733T>C (p.His10911=) c.59928T>C (p.His19976=) c.55005T>C (p.His18335=) n.597-5705A>G n.3364+577A>G c.59025T>C (p.His19675=) c.32919T>C (p.His10973=) c.32778T>C (p.His10926=) c.58821T>C (p.His19607=) c.54219T>C (p.His18073=) c.54216T>C (p.His18072=) c.51258T>C (p.His17086=) c.32874T>C (p.His10958=) c.54369T>C (p.His18123=) c.54366T>C (p.His18122=) c.53799T>C (p.His17933=) c.51141T>C (p.His17047=) c.51060T>C (p.His17020=) c.32823T>C (p.His10941=) c.22677T>C (p.His7559=) | |
| 2 | g.178591891A>T | CA349488528 | TTN,TTN-AS1 | c.52224T>A (p.His17408Gln) c.33309T>A (p.His11103Gln) c.33108T>A (p.His11036Gln) c.32733T>A (p.His10911Gln) c.59928T>A (p.His19976Gln) c.55005T>A (p.His18335Gln) n.597-5705A>T n.3364+577A>T c.59025T>A (p.His19675Gln) c.32919T>A (p.His10973Gln) c.32778T>A (p.His10926Gln) c.58821T>A (p.His19607Gln) c.54219T>A (p.His18073Gln) c.54216T>A (p.His18072Gln) c.51258T>A (p.His17086Gln) c.32874T>A (p.His10958Gln) c.54369T>A (p.His18123Gln) c.54366T>A (p.His18122Gln) c.53799T>A (p.His17933Gln) c.51141T>A (p.His17047Gln) c.51060T>A (p.His17020Gln) c.32823T>A (p.His10941Gln) c.22677T>A (p.His7559Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178591892T>A | CA349488541 | TTN,TTN-AS1 | c.52223A>T (p.His17408Leu) c.33308A>T (p.His11103Leu) c.33107A>T (p.His11036Leu) c.32732A>T (p.His10911Leu) c.59927A>T (p.His19976Leu) c.55004A>T (p.His18335Leu) n.597-5704T>A n.3364+578T>A c.59024A>T (p.His19675Leu) c.32918A>T (p.His10973Leu) c.32777A>T (p.His10926Leu) c.58820A>T (p.His19607Leu) c.54218A>T (p.His18073Leu) c.54215A>T (p.His18072Leu) c.51257A>T (p.His17086Leu) c.32873A>T (p.His10958Leu) c.54368A>T (p.His18123Leu) c.54365A>T (p.His18122Leu) c.53798A>T (p.His17933Leu) c.51140A>T (p.His17047Leu) c.51059A>T (p.His17020Leu) c.32822A>T (p.His10941Leu) c.22676A>T (p.His7559Leu) | |
| 2 | g.178591892T>C | CA349488549 | TTN,TTN-AS1 | c.52223A>G (p.His17408Arg) c.33308A>G (p.His11103Arg) c.33107A>G (p.His11036Arg) c.32732A>G (p.His10911Arg) c.59927A>G (p.His19976Arg) c.55004A>G (p.His18335Arg) n.597-5704T>C n.3364+578T>C c.59024A>G (p.His19675Arg) c.32918A>G (p.His10973Arg) c.32777A>G (p.His10926Arg) c.58820A>G (p.His19607Arg) c.54218A>G (p.His18073Arg) c.54215A>G (p.His18072Arg) c.51257A>G (p.His17086Arg) c.32873A>G (p.His10958Arg) c.54368A>G (p.His18123Arg) c.54365A>G (p.His18122Arg) c.53798A>G (p.His17933Arg) c.51140A>G (p.His17047Arg) c.51059A>G (p.His17020Arg) c.32822A>G (p.His10941Arg) c.22676A>G (p.His7559Arg) | |
| 2 | g.178591892T>G | CA349488552 | TTN,TTN-AS1 | c.52223A>C (p.His17408Pro) c.33308A>C (p.His11103Pro) c.33107A>C (p.His11036Pro) c.32732A>C (p.His10911Pro) c.59927A>C (p.His19976Pro) c.55004A>C (p.His18335Pro) n.597-5704T>G n.3364+578T>G c.59024A>C (p.His19675Pro) c.32918A>C (p.His10973Pro) c.32777A>C (p.His10926Pro) c.58820A>C (p.His19607Pro) c.54218A>C (p.His18073Pro) c.54215A>C (p.His18072Pro) c.51257A>C (p.His17086Pro) c.32873A>C (p.His10958Pro) c.54368A>C (p.His18123Pro) c.54365A>C (p.His18122Pro) c.53798A>C (p.His17933Pro) c.51140A>C (p.His17047Pro) c.51059A>C (p.His17020Pro) c.32822A>C (p.His10941Pro) c.22676A>C (p.His7559Pro) |