WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178630253G>A | CA349645169 | TTN | c.36565C>T (p.Leu12189Phe) c.17650C>T (p.Leu5884Phe) c.17449C>T (p.Leu5817Phe) c.17074C>T (p.Leu5692Phe) c.44269C>T (p.Leu14757Phe) c.39346C>T (p.Leu13116Phe) c.43366C>T (p.Leu14456Phe) c.17260C>T (p.Leu5754Phe) c.17119C>T (p.Leu5707Phe) c.43162C>T (p.Leu14388Phe) c.38560C>T (p.Leu12854Phe) c.38557C>T (p.Leu12853Phe) c.35599C>T (p.Leu11867Phe) c.17215C>T (p.Leu5739Phe) c.38710C>T (p.Leu12904Phe) c.38707C>T (p.Leu12903Phe) c.38140C>T (p.Leu12714Phe) c.35482C>T (p.Leu11828Phe) c.35401C>T (p.Leu11801Phe) c.17164C>T (p.Leu5722Phe) c.7018C>T (p.Leu2340Phe) | gnomAD v4 |
| 2 | g.178630253G>C | CA236097 | TTN | c.36565C>G (p.Leu12189Val) c.17650C>G (p.Leu5884Val) c.17449C>G (p.Leu5817Val) c.17074C>G (p.Leu5692Val) c.44269C>G (p.Leu14757Val) c.39346C>G (p.Leu13116Val) c.43366C>G (p.Leu14456Val) c.17260C>G (p.Leu5754Val) c.17119C>G (p.Leu5707Val) c.43162C>G (p.Leu14388Val) c.38560C>G (p.Leu12854Val) c.38557C>G (p.Leu12853Val) c.35599C>G (p.Leu11867Val) c.17215C>G (p.Leu5739Val) c.38710C>G (p.Leu12904Val) c.38707C>G (p.Leu12903Val) c.38140C>G (p.Leu12714Val) c.35482C>G (p.Leu11828Val) c.35401C>G (p.Leu11801Val) c.17164C>G (p.Leu5722Val) c.7018C>G (p.Leu2340Val) | ClinVar dbSNP |
| 2 | g.178630253G= | CA1310555901 | TTN | c.36565C= (p.Leu12189=) c.17650C= (p.Leu5884=) c.17449C= (p.Leu5817=) c.17074C= (p.Leu5692=) c.44269C= (p.Leu14757=) c.39346C= (p.Leu13116=) c.43366C= (p.Leu14456=) c.17260C= (p.Leu5754=) c.17119C= (p.Leu5707=) c.43162C= (p.Leu14388=) c.38560C= (p.Leu12854=) c.38557C= (p.Leu12853=) c.35599C= (p.Leu11867=) c.17215C= (p.Leu5739=) c.38710C= (p.Leu12904=) c.38707C= (p.Leu12903=) c.38140C= (p.Leu12714=) c.35482C= (p.Leu11828=) c.35401C= (p.Leu11801=) c.17164C= (p.Leu5722=) c.7018C= (p.Leu2340=) | |
| 2 | g.178630253G>T | CA349645172 | TTN | c.36565C>A (p.Leu12189Ile) c.17650C>A (p.Leu5884Ile) c.17449C>A (p.Leu5817Ile) c.17074C>A (p.Leu5692Ile) c.44269C>A (p.Leu14757Ile) c.39346C>A (p.Leu13116Ile) c.43366C>A (p.Leu14456Ile) c.17260C>A (p.Leu5754Ile) c.17119C>A (p.Leu5707Ile) c.43162C>A (p.Leu14388Ile) c.38560C>A (p.Leu12854Ile) c.38557C>A (p.Leu12853Ile) c.35599C>A (p.Leu11867Ile) c.17215C>A (p.Leu5739Ile) c.38710C>A (p.Leu12904Ile) c.38707C>A (p.Leu12903Ile) c.38140C>A (p.Leu12714Ile) c.35482C>A (p.Leu11828Ile) c.35401C>A (p.Leu11801Ile) c.17164C>A (p.Leu5722Ile) c.7018C>A (p.Leu2340Ile) | |
| 2 | g.178630254G>A | CA1995706 | TTN | c.36564C>T (p.His12188=) c.17649C>T (p.His5883=) c.17448C>T (p.His5816=) c.17073C>T (p.His5691=) c.44268C>T (p.His14756=) c.39345C>T (p.His13115=) c.43365C>T (p.His14455=) c.17259C>T (p.His5753=) c.17118C>T (p.His5706=) c.43161C>T (p.His14387=) c.38559C>T (p.His12853=) c.38556C>T (p.His12852=) c.35598C>T (p.His11866=) c.17214C>T (p.His5738=) c.38709C>T (p.His12903=) c.38706C>T (p.His12902=) c.38139C>T (p.His12713=) c.35481C>T (p.His11827=) c.35400C>T (p.His11800=) c.17163C>T (p.His5721=) c.7017C>T (p.His2339=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178630254G>C | CA349645175 | TTN | c.36564C>G (p.His12188Gln) c.17649C>G (p.His5883Gln) c.17448C>G (p.His5816Gln) c.17073C>G (p.His5691Gln) c.44268C>G (p.His14756Gln) c.39345C>G (p.His13115Gln) c.43365C>G (p.His14455Gln) c.17259C>G (p.His5753Gln) c.17118C>G (p.His5706Gln) c.43161C>G (p.His14387Gln) c.38559C>G (p.His12853Gln) c.38556C>G (p.His12852Gln) c.35598C>G (p.His11866Gln) c.17214C>G (p.His5738Gln) c.38709C>G (p.His12903Gln) c.38706C>G (p.His12902Gln) c.38139C>G (p.His12713Gln) c.35481C>G (p.His11827Gln) c.35400C>G (p.His11800Gln) c.17163C>G (p.His5721Gln) c.7017C>G (p.His2339Gln) | |
| 2 | g.178630254G= | CA1310555902 | TTN | c.36564C= (p.His12188=) c.17649C= (p.His5883=) c.17448C= (p.His5816=) c.17073C= (p.His5691=) c.44268C= (p.His14756=) c.39345C= (p.His13115=) c.43365C= (p.His14455=) c.17259C= (p.His5753=) c.17118C= (p.His5706=) c.43161C= (p.His14387=) c.38559C= (p.His12853=) c.38556C= (p.His12852=) c.35598C= (p.His11866=) c.17214C= (p.His5738=) c.38709C= (p.His12903=) c.38706C= (p.His12902=) c.38139C= (p.His12713=) c.35481C= (p.His11827=) c.35400C= (p.His11800=) c.17163C= (p.His5721=) c.7017C= (p.His2339=) | |
| 2 | g.178630254G>T | CA349645178 | TTN | c.36564C>A (p.His12188Gln) c.17649C>A (p.His5883Gln) c.17448C>A (p.His5816Gln) c.17073C>A (p.His5691Gln) c.44268C>A (p.His14756Gln) c.39345C>A (p.His13115Gln) c.43365C>A (p.His14455Gln) c.17259C>A (p.His5753Gln) c.17118C>A (p.His5706Gln) c.43161C>A (p.His14387Gln) c.38559C>A (p.His12853Gln) c.38556C>A (p.His12852Gln) c.35598C>A (p.His11866Gln) c.17214C>A (p.His5738Gln) c.38709C>A (p.His12903Gln) c.38706C>A (p.His12902Gln) c.38139C>A (p.His12713Gln) c.35481C>A (p.His11827Gln) c.35400C>A (p.His11800Gln) c.17163C>A (p.His5721Gln) c.7017C>A (p.His2339Gln) | |
| 2 | g.178630255T>A | CA349645181 | TTN | c.36563A>T (p.His12188Leu) c.17648A>T (p.His5883Leu) c.17447A>T (p.His5816Leu) c.17072A>T (p.His5691Leu) c.44267A>T (p.His14756Leu) c.39344A>T (p.His13115Leu) c.43364A>T (p.His14455Leu) c.17258A>T (p.His5753Leu) c.17117A>T (p.His5706Leu) c.43160A>T (p.His14387Leu) c.38558A>T (p.His12853Leu) c.38555A>T (p.His12852Leu) c.35597A>T (p.His11866Leu) c.17213A>T (p.His5738Leu) c.38708A>T (p.His12903Leu) c.38705A>T (p.His12902Leu) c.38138A>T (p.His12713Leu) c.35480A>T (p.His11827Leu) c.35399A>T (p.His11800Leu) c.17162A>T (p.His5721Leu) c.7016A>T (p.His2339Leu) | |
| 2 | g.178630255T>C | CA349645184 | TTN | c.36563A>G (p.His12188Arg) c.17648A>G (p.His5883Arg) c.17447A>G (p.His5816Arg) c.17072A>G (p.His5691Arg) c.44267A>G (p.His14756Arg) c.39344A>G (p.His13115Arg) c.43364A>G (p.His14455Arg) c.17258A>G (p.His5753Arg) c.17117A>G (p.His5706Arg) c.43160A>G (p.His14387Arg) c.38558A>G (p.His12853Arg) c.38555A>G (p.His12852Arg) c.35597A>G (p.His11866Arg) c.17213A>G (p.His5738Arg) c.38708A>G (p.His12903Arg) c.38705A>G (p.His12902Arg) c.38138A>G (p.His12713Arg) c.35480A>G (p.His11827Arg) c.35399A>G (p.His11800Arg) c.17162A>G (p.His5721Arg) c.7016A>G (p.His2339Arg) | |
| 2 | g.178630255T>G | CA349645187 | TTN | c.36563A>C (p.His12188Pro) c.17648A>C (p.His5883Pro) c.17447A>C (p.His5816Pro) c.17072A>C (p.His5691Pro) c.44267A>C (p.His14756Pro) c.39344A>C (p.His13115Pro) c.43364A>C (p.His14455Pro) c.17258A>C (p.His5753Pro) c.17117A>C (p.His5706Pro) c.43160A>C (p.His14387Pro) c.38558A>C (p.His12853Pro) c.38555A>C (p.His12852Pro) c.35597A>C (p.His11866Pro) c.17213A>C (p.His5738Pro) c.38708A>C (p.His12903Pro) c.38705A>C (p.His12902Pro) c.38138A>C (p.His12713Pro) c.35480A>C (p.His11827Pro) c.35399A>C (p.His11800Pro) c.17162A>C (p.His5721Pro) c.7016A>C (p.His2339Pro) | ClinVar dbSNP |
| 2 | g.178630256G>A | CA1995707 | TTN | c.36562C>T (p.His12188Tyr) c.17647C>T (p.His5883Tyr) c.17446C>T (p.His5816Tyr) c.17071C>T (p.His5691Tyr) c.44266C>T (p.His14756Tyr) c.39343C>T (p.His13115Tyr) c.43363C>T (p.His14455Tyr) c.17257C>T (p.His5753Tyr) c.17116C>T (p.His5706Tyr) c.43159C>T (p.His14387Tyr) c.38557C>T (p.His12853Tyr) c.38554C>T (p.His12852Tyr) c.35596C>T (p.His11866Tyr) c.17212C>T (p.His5738Tyr) c.38707C>T (p.His12903Tyr) c.38704C>T (p.His12902Tyr) c.38137C>T (p.His12713Tyr) c.35479C>T (p.His11827Tyr) c.35398C>T (p.His11800Tyr) c.17161C>T (p.His5721Tyr) c.7015C>T (p.His2339Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178630256G>C | CA349645192 | TTN | c.36562C>G (p.His12188Asp) c.17647C>G (p.His5883Asp) c.17446C>G (p.His5816Asp) c.17071C>G (p.His5691Asp) c.44266C>G (p.His14756Asp) c.39343C>G (p.His13115Asp) c.43363C>G (p.His14455Asp) c.17257C>G (p.His5753Asp) c.17116C>G (p.His5706Asp) c.43159C>G (p.His14387Asp) c.38557C>G (p.His12853Asp) c.38554C>G (p.His12852Asp) c.35596C>G (p.His11866Asp) c.17212C>G (p.His5738Asp) c.38707C>G (p.His12903Asp) c.38704C>G (p.His12902Asp) c.38137C>G (p.His12713Asp) c.35479C>G (p.His11827Asp) c.35398C>G (p.His11800Asp) c.17161C>G (p.His5721Asp) c.7015C>G (p.His2339Asp) | |
| 2 | g.178630256G= | CA1310555903 | TTN | c.36562C= (p.His12188=) c.17647C= (p.His5883=) c.17446C= (p.His5816=) c.17071C= (p.His5691=) c.44266C= (p.His14756=) c.39343C= (p.His13115=) c.43363C= (p.His14455=) c.17257C= (p.His5753=) c.17116C= (p.His5706=) c.43159C= (p.His14387=) c.38557C= (p.His12853=) c.38554C= (p.His12852=) c.35596C= (p.His11866=) c.17212C= (p.His5738=) c.38707C= (p.His12903=) c.38704C= (p.His12902=) c.38137C= (p.His12713=) c.35479C= (p.His11827=) c.35398C= (p.His11800=) c.17161C= (p.His5721=) c.7015C= (p.His2339=) | |
| 2 | g.178630256G>T | CA349645194 | TTN | c.36562C>A (p.His12188Asn) c.17647C>A (p.His5883Asn) c.17446C>A (p.His5816Asn) c.17071C>A (p.His5691Asn) c.44266C>A (p.His14756Asn) c.39343C>A (p.His13115Asn) c.43363C>A (p.His14455Asn) c.17257C>A (p.His5753Asn) c.17116C>A (p.His5706Asn) c.43159C>A (p.His14387Asn) c.38557C>A (p.His12853Asn) c.38554C>A (p.His12852Asn) c.35596C>A (p.His11866Asn) c.17212C>A (p.His5738Asn) c.38707C>A (p.His12903Asn) c.38704C>A (p.His12902Asn) c.38137C>A (p.His12713Asn) c.35479C>A (p.His11827Asn) c.35398C>A (p.His11800Asn) c.17161C>A (p.His5721Asn) c.7015C>A (p.His2339Asn) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178630257G>A | CA430113424 | TTN | c.36561C>T (p.Ala12187=) c.17646C>T (p.Ala5882=) c.17445C>T (p.Ala5815=) c.17070C>T (p.Ala5690=) c.44265C>T (p.Ala14755=) c.39342C>T (p.Ala13114=) c.43362C>T (p.Ala14454=) c.17256C>T (p.Ala5752=) c.17115C>T (p.Ala5705=) c.43158C>T (p.Ala14386=) c.38556C>T (p.Ala12852=) c.38553C>T (p.Ala12851=) c.35595C>T (p.Ala11865=) c.17211C>T (p.Ala5737=) c.38706C>T (p.Ala12902=) c.38703C>T (p.Ala12901=) c.38136C>T (p.Ala12712=) c.35478C>T (p.Ala11826=) c.35397C>T (p.Ala11799=) c.17160C>T (p.Ala5720=) c.7014C>T (p.Ala2338=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178630257G>C | CA430113427 | TTN | c.36561C>G (p.Ala12187=) c.17646C>G (p.Ala5882=) c.17445C>G (p.Ala5815=) c.17070C>G (p.Ala5690=) c.44265C>G (p.Ala14755=) c.39342C>G (p.Ala13114=) c.43362C>G (p.Ala14454=) c.17256C>G (p.Ala5752=) c.17115C>G (p.Ala5705=) c.43158C>G (p.Ala14386=) c.38556C>G (p.Ala12852=) c.38553C>G (p.Ala12851=) c.35595C>G (p.Ala11865=) c.17211C>G (p.Ala5737=) c.38706C>G (p.Ala12902=) c.38703C>G (p.Ala12901=) c.38136C>G (p.Ala12712=) c.35478C>G (p.Ala11826=) c.35397C>G (p.Ala11799=) c.17160C>G (p.Ala5720=) c.7014C>G (p.Ala2338=) | dbSNP |
| 2 | g.178630257G= | CA1310555904 | TTN | c.36561C= (p.Ala12187=) c.17646C= (p.Ala5882=) c.17445C= (p.Ala5815=) c.17070C= (p.Ala5690=) c.44265C= (p.Ala14755=) c.39342C= (p.Ala13114=) c.43362C= (p.Ala14454=) c.17256C= (p.Ala5752=) c.17115C= (p.Ala5705=) c.43158C= (p.Ala14386=) c.38556C= (p.Ala12852=) c.38553C= (p.Ala12851=) c.35595C= (p.Ala11865=) c.17211C= (p.Ala5737=) c.38706C= (p.Ala12902=) c.38703C= (p.Ala12901=) c.38136C= (p.Ala12712=) c.35478C= (p.Ala11826=) c.35397C= (p.Ala11799=) c.17160C= (p.Ala5720=) c.7014C= (p.Ala2338=) | |
| 2 | g.178630257G>T | CA430113429 | TTN | c.36561C>A (p.Ala12187=) c.17646C>A (p.Ala5882=) c.17445C>A (p.Ala5815=) c.17070C>A (p.Ala5690=) c.44265C>A (p.Ala14755=) c.39342C>A (p.Ala13114=) c.43362C>A (p.Ala14454=) c.17256C>A (p.Ala5752=) c.17115C>A (p.Ala5705=) c.43158C>A (p.Ala14386=) c.38556C>A (p.Ala12852=) c.38553C>A (p.Ala12851=) c.35595C>A (p.Ala11865=) c.17211C>A (p.Ala5737=) c.38706C>A (p.Ala12902=) c.38703C>A (p.Ala12901=) c.38136C>A (p.Ala12712=) c.35478C>A (p.Ala11826=) c.35397C>A (p.Ala11799=) c.17160C>A (p.Ala5720=) c.7014C>A (p.Ala2338=) | |
| 2 | g.178630258G>A | CA349645203 | TTN | c.36560C>T (p.Ala12187Val) c.17645C>T (p.Ala5882Val) c.17444C>T (p.Ala5815Val) c.17069C>T (p.Ala5690Val) c.44264C>T (p.Ala14755Val) c.39341C>T (p.Ala13114Val) c.43361C>T (p.Ala14454Val) c.17255C>T (p.Ala5752Val) c.17114C>T (p.Ala5705Val) c.43157C>T (p.Ala14386Val) c.38555C>T (p.Ala12852Val) c.38552C>T (p.Ala12851Val) c.35594C>T (p.Ala11865Val) c.17210C>T (p.Ala5737Val) c.38705C>T (p.Ala12902Val) c.38702C>T (p.Ala12901Val) c.38135C>T (p.Ala12712Val) c.35477C>T (p.Ala11826Val) c.35396C>T (p.Ala11799Val) c.17159C>T (p.Ala5720Val) c.7013C>T (p.Ala2338Val) | gnomAD v4 |
| 2 | g.178630258G>C | CA349645200 | TTN | c.36560C>G (p.Ala12187Gly) c.17645C>G (p.Ala5882Gly) c.17444C>G (p.Ala5815Gly) c.17069C>G (p.Ala5690Gly) c.44264C>G (p.Ala14755Gly) c.39341C>G (p.Ala13114Gly) c.43361C>G (p.Ala14454Gly) c.17255C>G (p.Ala5752Gly) c.17114C>G (p.Ala5705Gly) c.43157C>G (p.Ala14386Gly) c.38555C>G (p.Ala12852Gly) c.38552C>G (p.Ala12851Gly) c.35594C>G (p.Ala11865Gly) c.17210C>G (p.Ala5737Gly) c.38705C>G (p.Ala12902Gly) c.38702C>G (p.Ala12901Gly) c.38135C>G (p.Ala12712Gly) c.35477C>G (p.Ala11826Gly) c.35396C>G (p.Ala11799Gly) c.17159C>G (p.Ala5720Gly) c.7013C>G (p.Ala2338Gly) | |
| 2 | g.178630258G>T | CA349645198 | TTN | c.36560C>A (p.Ala12187Asp) c.17645C>A (p.Ala5882Asp) c.17444C>A (p.Ala5815Asp) c.17069C>A (p.Ala5690Asp) c.44264C>A (p.Ala14755Asp) c.39341C>A (p.Ala13114Asp) c.43361C>A (p.Ala14454Asp) c.17255C>A (p.Ala5752Asp) c.17114C>A (p.Ala5705Asp) c.43157C>A (p.Ala14386Asp) c.38555C>A (p.Ala12852Asp) c.38552C>A (p.Ala12851Asp) c.35594C>A (p.Ala11865Asp) c.17210C>A (p.Ala5737Asp) c.38705C>A (p.Ala12902Asp) c.38702C>A (p.Ala12901Asp) c.38135C>A (p.Ala12712Asp) c.35477C>A (p.Ala11826Asp) c.35396C>A (p.Ala11799Asp) c.17159C>A (p.Ala5720Asp) c.7013C>A (p.Ala2338Asp) | |
| 2 | g.178630259C>A | CA349645206 | TTN | c.36559G>T (p.Ala12187Ser) c.17644G>T (p.Ala5882Ser) c.17443G>T (p.Ala5815Ser) c.17068G>T (p.Ala5690Ser) c.44263G>T (p.Ala14755Ser) c.39340G>T (p.Ala13114Ser) c.43360G>T (p.Ala14454Ser) c.17254G>T (p.Ala5752Ser) c.17113G>T (p.Ala5705Ser) c.43156G>T (p.Ala14386Ser) c.38554G>T (p.Ala12852Ser) c.38551G>T (p.Ala12851Ser) c.35593G>T (p.Ala11865Ser) c.17209G>T (p.Ala5737Ser) c.38704G>T (p.Ala12902Ser) c.38701G>T (p.Ala12901Ser) c.38134G>T (p.Ala12712Ser) c.35476G>T (p.Ala11826Ser) c.35395G>T (p.Ala11799Ser) c.17158G>T (p.Ala5720Ser) c.7012G>T (p.Ala2338Ser) | |
| 2 | g.178630259C>G | CA349645209 | TTN | c.36559G>C (p.Ala12187Pro) c.17644G>C (p.Ala5882Pro) c.17443G>C (p.Ala5815Pro) c.17068G>C (p.Ala5690Pro) c.44263G>C (p.Ala14755Pro) c.39340G>C (p.Ala13114Pro) c.43360G>C (p.Ala14454Pro) c.17254G>C (p.Ala5752Pro) c.17113G>C (p.Ala5705Pro) c.43156G>C (p.Ala14386Pro) c.38554G>C (p.Ala12852Pro) c.38551G>C (p.Ala12851Pro) c.35593G>C (p.Ala11865Pro) c.17209G>C (p.Ala5737Pro) c.38704G>C (p.Ala12902Pro) c.38701G>C (p.Ala12901Pro) c.38134G>C (p.Ala12712Pro) c.35476G>C (p.Ala11826Pro) c.35395G>C (p.Ala11799Pro) c.17158G>C (p.Ala5720Pro) c.7012G>C (p.Ala2338Pro) | |
| 2 | g.178630259C>T | CA349645211 | TTN | c.36559G>A (p.Ala12187Thr) c.17644G>A (p.Ala5882Thr) c.17443G>A (p.Ala5815Thr) c.17068G>A (p.Ala5690Thr) c.44263G>A (p.Ala14755Thr) c.39340G>A (p.Ala13114Thr) c.43360G>A (p.Ala14454Thr) c.17254G>A (p.Ala5752Thr) c.17113G>A (p.Ala5705Thr) c.43156G>A (p.Ala14386Thr) c.38554G>A (p.Ala12852Thr) c.38551G>A (p.Ala12851Thr) c.35593G>A (p.Ala11865Thr) c.17209G>A (p.Ala5737Thr) c.38704G>A (p.Ala12902Thr) c.38701G>A (p.Ala12901Thr) c.38134G>A (p.Ala12712Thr) c.35476G>A (p.Ala11826Thr) c.35395G>A (p.Ala11799Thr) c.17158G>A (p.Ala5720Thr) c.7012G>A (p.Ala2338Thr) | |
| 2 | g.178630260A>C | CA349645214 | TTN | c.36558T>G (p.Ser12186Arg) c.17643T>G (p.Ser5881Arg) c.17442T>G (p.Ser5814Arg) c.17067T>G (p.Ser5689Arg) c.44262T>G (p.Ser14754Arg) c.39339T>G (p.Ser13113Arg) c.43359T>G (p.Ser14453Arg) c.17253T>G (p.Ser5751Arg) c.17112T>G (p.Ser5704Arg) c.43155T>G (p.Ser14385Arg) c.38553T>G (p.Ser12851Arg) c.38550T>G (p.Ser12850Arg) c.35592T>G (p.Ser11864Arg) c.17208T>G (p.Ser5736Arg) c.38703T>G (p.Ser12901Arg) c.38700T>G (p.Ser12900Arg) c.38133T>G (p.Ser12711Arg) c.35475T>G (p.Ser11825Arg) c.35394T>G (p.Ser11798Arg) c.17157T>G (p.Ser5719Arg) c.7011T>G (p.Ser2337Arg) | |
| 2 | g.178630260A>G | CA430113439 | TTN | c.36558T>C (p.Ser12186=) c.17643T>C (p.Ser5881=) c.17442T>C (p.Ser5814=) c.17067T>C (p.Ser5689=) c.44262T>C (p.Ser14754=) c.39339T>C (p.Ser13113=) c.43359T>C (p.Ser14453=) c.17253T>C (p.Ser5751=) c.17112T>C (p.Ser5704=) c.43155T>C (p.Ser14385=) c.38553T>C (p.Ser12851=) c.38550T>C (p.Ser12850=) c.35592T>C (p.Ser11864=) c.17208T>C (p.Ser5736=) c.38703T>C (p.Ser12901=) c.38700T>C (p.Ser12900=) c.38133T>C (p.Ser12711=) c.35475T>C (p.Ser11825=) c.35394T>C (p.Ser11798=) c.17157T>C (p.Ser5719=) c.7011T>C (p.Ser2337=) | |
| 2 | g.178630260A>T | CA349645216 | TTN | c.36558T>A (p.Ser12186Arg) c.17643T>A (p.Ser5881Arg) c.17442T>A (p.Ser5814Arg) c.17067T>A (p.Ser5689Arg) c.44262T>A (p.Ser14754Arg) c.39339T>A (p.Ser13113Arg) c.43359T>A (p.Ser14453Arg) c.17253T>A (p.Ser5751Arg) c.17112T>A (p.Ser5704Arg) c.43155T>A (p.Ser14385Arg) c.38553T>A (p.Ser12851Arg) c.38550T>A (p.Ser12850Arg) c.35592T>A (p.Ser11864Arg) c.17208T>A (p.Ser5736Arg) c.38703T>A (p.Ser12901Arg) c.38700T>A (p.Ser12900Arg) c.38133T>A (p.Ser12711Arg) c.35475T>A (p.Ser11825Arg) c.35394T>A (p.Ser11798Arg) c.17157T>A (p.Ser5719Arg) c.7011T>A (p.Ser2337Arg) | |
| 2 | g.178630261C>A | CA1995709 | TTN | c.36557G>T (p.Ser12186Ile) c.17642G>T (p.Ser5881Ile) c.17441G>T (p.Ser5814Ile) c.17066G>T (p.Ser5689Ile) c.44261G>T (p.Ser14754Ile) c.39338G>T (p.Ser13113Ile) c.43358G>T (p.Ser14453Ile) c.17252G>T (p.Ser5751Ile) c.17111G>T (p.Ser5704Ile) c.43154G>T (p.Ser14385Ile) c.38552G>T (p.Ser12851Ile) c.38549G>T (p.Ser12850Ile) c.35591G>T (p.Ser11864Ile) c.17207G>T (p.Ser5736Ile) c.38702G>T (p.Ser12901Ile) c.38699G>T (p.Ser12900Ile) c.38132G>T (p.Ser12711Ile) c.35474G>T (p.Ser11825Ile) c.35393G>T (p.Ser11798Ile) c.17156G>T (p.Ser5719Ile) c.7010G>T (p.Ser2337Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178630261C= | CA1310555905 | TTN | c.36557G= (p.Ser12186=) c.17642G= (p.Ser5881=) c.17441G= (p.Ser5814=) c.17066G= (p.Ser5689=) c.44261G= (p.Ser14754=) c.39338G= (p.Ser13113=) c.43358G= (p.Ser14453=) c.17252G= (p.Ser5751=) c.17111G= (p.Ser5704=) c.43154G= (p.Ser14385=) c.38552G= (p.Ser12851=) c.38549G= (p.Ser12850=) c.35591G= (p.Ser11864=) c.17207G= (p.Ser5736=) c.38702G= (p.Ser12901=) c.38699G= (p.Ser12900=) c.38132G= (p.Ser12711=) c.35474G= (p.Ser11825=) c.35393G= (p.Ser11798=) c.17156G= (p.Ser5719=) c.7010G= (p.Ser2337=) | |
| 2 | g.178630261C>G | CA1995708 | TTN | c.36557G>C (p.Ser12186Thr) c.17642G>C (p.Ser5881Thr) c.17441G>C (p.Ser5814Thr) c.17066G>C (p.Ser5689Thr) c.44261G>C (p.Ser14754Thr) c.39338G>C (p.Ser13113Thr) c.43358G>C (p.Ser14453Thr) c.17252G>C (p.Ser5751Thr) c.17111G>C (p.Ser5704Thr) c.43154G>C (p.Ser14385Thr) c.38552G>C (p.Ser12851Thr) c.38549G>C (p.Ser12850Thr) c.35591G>C (p.Ser11864Thr) c.17207G>C (p.Ser5736Thr) c.38702G>C (p.Ser12901Thr) c.38699G>C (p.Ser12900Thr) c.38132G>C (p.Ser12711Thr) c.35474G>C (p.Ser11825Thr) c.35393G>C (p.Ser11798Thr) c.17156G>C (p.Ser5719Thr) c.7010G>C (p.Ser2337Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178630261C>T | CA349645218 | TTN | c.36557G>A (p.Ser12186Asn) c.17642G>A (p.Ser5881Asn) c.17441G>A (p.Ser5814Asn) c.17066G>A (p.Ser5689Asn) c.44261G>A (p.Ser14754Asn) c.39338G>A (p.Ser13113Asn) c.43358G>A (p.Ser14453Asn) c.17252G>A (p.Ser5751Asn) c.17111G>A (p.Ser5704Asn) c.43154G>A (p.Ser14385Asn) c.38552G>A (p.Ser12851Asn) c.38549G>A (p.Ser12850Asn) c.35591G>A (p.Ser11864Asn) c.17207G>A (p.Ser5736Asn) c.38702G>A (p.Ser12901Asn) c.38699G>A (p.Ser12900Asn) c.38132G>A (p.Ser12711Asn) c.35474G>A (p.Ser11825Asn) c.35393G>A (p.Ser11798Asn) c.17156G>A (p.Ser5719Asn) c.7010G>A (p.Ser2337Asn) | |
| 2 | g.178630262T>A | CA349645224 | TTN | c.36556A>T (p.Ser12186Cys) c.17641A>T (p.Ser5881Cys) c.17440A>T (p.Ser5814Cys) c.17065A>T (p.Ser5689Cys) c.44260A>T (p.Ser14754Cys) c.39337A>T (p.Ser13113Cys) c.43357A>T (p.Ser14453Cys) c.17251A>T (p.Ser5751Cys) c.17110A>T (p.Ser5704Cys) c.43153A>T (p.Ser14385Cys) c.38551A>T (p.Ser12851Cys) c.38548A>T (p.Ser12850Cys) c.35590A>T (p.Ser11864Cys) c.17206A>T (p.Ser5736Cys) c.38701A>T (p.Ser12901Cys) c.38698A>T (p.Ser12900Cys) c.38131A>T (p.Ser12711Cys) c.35473A>T (p.Ser11825Cys) c.35392A>T (p.Ser11798Cys) c.17155A>T (p.Ser5719Cys) c.7009A>T (p.Ser2337Cys) | |
| 2 | g.178630262T>C | CA349645233 | TTN | c.36556A>G (p.Ser12186Gly) c.17641A>G (p.Ser5881Gly) c.17440A>G (p.Ser5814Gly) c.17065A>G (p.Ser5689Gly) c.44260A>G (p.Ser14754Gly) c.39337A>G (p.Ser13113Gly) c.43357A>G (p.Ser14453Gly) c.17251A>G (p.Ser5751Gly) c.17110A>G (p.Ser5704Gly) c.43153A>G (p.Ser14385Gly) c.38551A>G (p.Ser12851Gly) c.38548A>G (p.Ser12850Gly) c.35590A>G (p.Ser11864Gly) c.17206A>G (p.Ser5736Gly) c.38701A>G (p.Ser12901Gly) c.38698A>G (p.Ser12900Gly) c.38131A>G (p.Ser12711Gly) c.35473A>G (p.Ser11825Gly) c.35392A>G (p.Ser11798Gly) c.17155A>G (p.Ser5719Gly) c.7009A>G (p.Ser2337Gly) | |
| 2 | g.178630262T>G | CA349645236 | TTN | c.36556A>C (p.Ser12186Arg) c.17641A>C (p.Ser5881Arg) c.17440A>C (p.Ser5814Arg) c.17065A>C (p.Ser5689Arg) c.44260A>C (p.Ser14754Arg) c.39337A>C (p.Ser13113Arg) c.43357A>C (p.Ser14453Arg) c.17251A>C (p.Ser5751Arg) c.17110A>C (p.Ser5704Arg) c.43153A>C (p.Ser14385Arg) c.38551A>C (p.Ser12851Arg) c.38548A>C (p.Ser12850Arg) c.35590A>C (p.Ser11864Arg) c.17206A>C (p.Ser5736Arg) c.38701A>C (p.Ser12901Arg) c.38698A>C (p.Ser12900Arg) c.38131A>C (p.Ser12711Arg) c.35473A>C (p.Ser11825Arg) c.35392A>C (p.Ser11798Arg) c.17155A>C (p.Ser5719Arg) c.7009A>C (p.Ser2337Arg) | |
| 2 | g.178630263A>C | CA430113446 | TTN | c.36555T>G (p.Ser12185=) c.17640T>G (p.Ser5880=) c.17439T>G (p.Ser5813=) c.17064T>G (p.Ser5688=) c.44259T>G (p.Ser14753=) c.39336T>G (p.Ser13112=) c.43356T>G (p.Ser14452=) c.17250T>G (p.Ser5750=) c.17109T>G (p.Ser5703=) c.43152T>G (p.Ser14384=) c.38550T>G (p.Ser12850=) c.38547T>G (p.Ser12849=) c.35589T>G (p.Ser11863=) c.17205T>G (p.Ser5735=) c.38700T>G (p.Ser12900=) c.38697T>G (p.Ser12899=) c.38130T>G (p.Ser12710=) c.35472T>G (p.Ser11824=) c.35391T>G (p.Ser11797=) c.17154T>G (p.Ser5718=) c.7008T>G (p.Ser2336=) | |
| 2 | g.178630263A>G | CA430113448 | TTN | c.36555T>C (p.Ser12185=) c.17640T>C (p.Ser5880=) c.17439T>C (p.Ser5813=) c.17064T>C (p.Ser5688=) c.44259T>C (p.Ser14753=) c.39336T>C (p.Ser13112=) c.43356T>C (p.Ser14452=) c.17250T>C (p.Ser5750=) c.17109T>C (p.Ser5703=) c.43152T>C (p.Ser14384=) c.38550T>C (p.Ser12850=) c.38547T>C (p.Ser12849=) c.35589T>C (p.Ser11863=) c.17205T>C (p.Ser5735=) c.38700T>C (p.Ser12900=) c.38697T>C (p.Ser12899=) c.38130T>C (p.Ser12710=) c.35472T>C (p.Ser11824=) c.35391T>C (p.Ser11797=) c.17154T>C (p.Ser5718=) c.7008T>C (p.Ser2336=) | |
| 2 | g.178630263A>T | CA430113445 | TTN | c.36555T>A (p.Ser12185=) c.17640T>A (p.Ser5880=) c.17439T>A (p.Ser5813=) c.17064T>A (p.Ser5688=) c.44259T>A (p.Ser14753=) c.39336T>A (p.Ser13112=) c.43356T>A (p.Ser14452=) c.17250T>A (p.Ser5750=) c.17109T>A (p.Ser5703=) c.43152T>A (p.Ser14384=) c.38550T>A (p.Ser12850=) c.38547T>A (p.Ser12849=) c.35589T>A (p.Ser11863=) c.17205T>A (p.Ser5735=) c.38700T>A (p.Ser12900=) c.38697T>A (p.Ser12899=) c.38130T>A (p.Ser12710=) c.35472T>A (p.Ser11824=) c.35391T>A (p.Ser11797=) c.17154T>A (p.Ser5718=) c.7008T>A (p.Ser2336=) | |
| 2 | g.178630264G>A | CA349645241 | TTN | c.36554C>T (p.Ser12185Phe) c.17639C>T (p.Ser5880Phe) c.17438C>T (p.Ser5813Phe) c.17063C>T (p.Ser5688Phe) c.44258C>T (p.Ser14753Phe) c.39335C>T (p.Ser13112Phe) c.43355C>T (p.Ser14452Phe) c.17249C>T (p.Ser5750Phe) c.17108C>T (p.Ser5703Phe) c.43151C>T (p.Ser14384Phe) c.38549C>T (p.Ser12850Phe) c.38546C>T (p.Ser12849Phe) c.35588C>T (p.Ser11863Phe) c.17204C>T (p.Ser5735Phe) c.38699C>T (p.Ser12900Phe) c.38696C>T (p.Ser12899Phe) c.38129C>T (p.Ser12710Phe) c.35471C>T (p.Ser11824Phe) c.35390C>T (p.Ser11797Phe) c.17153C>T (p.Ser5718Phe) c.7007C>T (p.Ser2336Phe) | |
| 2 | g.178630264G>C | CA349645243 | TTN | c.36554C>G (p.Ser12185Cys) c.17639C>G (p.Ser5880Cys) c.17438C>G (p.Ser5813Cys) c.17063C>G (p.Ser5688Cys) c.44258C>G (p.Ser14753Cys) c.39335C>G (p.Ser13112Cys) c.43355C>G (p.Ser14452Cys) c.17249C>G (p.Ser5750Cys) c.17108C>G (p.Ser5703Cys) c.43151C>G (p.Ser14384Cys) c.38549C>G (p.Ser12850Cys) c.38546C>G (p.Ser12849Cys) c.35588C>G (p.Ser11863Cys) c.17204C>G (p.Ser5735Cys) c.38699C>G (p.Ser12900Cys) c.38696C>G (p.Ser12899Cys) c.38129C>G (p.Ser12710Cys) c.35471C>G (p.Ser11824Cys) c.35390C>G (p.Ser11797Cys) c.17153C>G (p.Ser5718Cys) c.7007C>G (p.Ser2336Cys) | |
| 2 | g.178630264G>T | CA349645244 | TTN | c.36554C>A (p.Ser12185Tyr) c.17639C>A (p.Ser5880Tyr) c.17438C>A (p.Ser5813Tyr) c.17063C>A (p.Ser5688Tyr) c.44258C>A (p.Ser14753Tyr) c.39335C>A (p.Ser13112Tyr) c.43355C>A (p.Ser14452Tyr) c.17249C>A (p.Ser5750Tyr) c.17108C>A (p.Ser5703Tyr) c.43151C>A (p.Ser14384Tyr) c.38549C>A (p.Ser12850Tyr) c.38546C>A (p.Ser12849Tyr) c.35588C>A (p.Ser11863Tyr) c.17204C>A (p.Ser5735Tyr) c.38699C>A (p.Ser12900Tyr) c.38696C>A (p.Ser12899Tyr) c.38129C>A (p.Ser12710Tyr) c.35471C>A (p.Ser11824Tyr) c.35390C>A (p.Ser11797Tyr) c.17153C>A (p.Ser5718Tyr) c.7007C>A (p.Ser2336Tyr) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178630265A>C | CA349645248 | TTN | c.36553T>G (p.Ser12185Ala) c.17638T>G (p.Ser5880Ala) c.17437T>G (p.Ser5813Ala) c.17062T>G (p.Ser5688Ala) c.44257T>G (p.Ser14753Ala) c.39334T>G (p.Ser13112Ala) c.43354T>G (p.Ser14452Ala) c.17248T>G (p.Ser5750Ala) c.17107T>G (p.Ser5703Ala) c.43150T>G (p.Ser14384Ala) c.38548T>G (p.Ser12850Ala) c.38545T>G (p.Ser12849Ala) c.35587T>G (p.Ser11863Ala) c.17203T>G (p.Ser5735Ala) c.38698T>G (p.Ser12900Ala) c.38695T>G (p.Ser12899Ala) c.38128T>G (p.Ser12710Ala) c.35470T>G (p.Ser11824Ala) c.35389T>G (p.Ser11797Ala) c.17152T>G (p.Ser5718Ala) c.7006T>G (p.Ser2336Ala) | |
| 2 | g.178630265A>G | CA349645253 | TTN | c.36553T>C (p.Ser12185Pro) c.17638T>C (p.Ser5880Pro) c.17437T>C (p.Ser5813Pro) c.17062T>C (p.Ser5688Pro) c.44257T>C (p.Ser14753Pro) c.39334T>C (p.Ser13112Pro) c.43354T>C (p.Ser14452Pro) c.17248T>C (p.Ser5750Pro) c.17107T>C (p.Ser5703Pro) c.43150T>C (p.Ser14384Pro) c.38548T>C (p.Ser12850Pro) c.38545T>C (p.Ser12849Pro) c.35587T>C (p.Ser11863Pro) c.17203T>C (p.Ser5735Pro) c.38698T>C (p.Ser12900Pro) c.38695T>C (p.Ser12899Pro) c.38128T>C (p.Ser12710Pro) c.35470T>C (p.Ser11824Pro) c.35389T>C (p.Ser11797Pro) c.17152T>C (p.Ser5718Pro) c.7006T>C (p.Ser2336Pro) | |
| 2 | g.178630265A>T | CA349645252 | TTN | c.36553T>A (p.Ser12185Thr) c.17638T>A (p.Ser5880Thr) c.17437T>A (p.Ser5813Thr) c.17062T>A (p.Ser5688Thr) c.44257T>A (p.Ser14753Thr) c.39334T>A (p.Ser13112Thr) c.43354T>A (p.Ser14452Thr) c.17248T>A (p.Ser5750Thr) c.17107T>A (p.Ser5703Thr) c.43150T>A (p.Ser14384Thr) c.38548T>A (p.Ser12850Thr) c.38545T>A (p.Ser12849Thr) c.35587T>A (p.Ser11863Thr) c.17203T>A (p.Ser5735Thr) c.38698T>A (p.Ser12900Thr) c.38695T>A (p.Ser12899Thr) c.38128T>A (p.Ser12710Thr) c.35470T>A (p.Ser11824Thr) c.35389T>A (p.Ser11797Thr) c.17152T>A (p.Ser5718Thr) c.7006T>A (p.Ser2336Thr) | |
| 2 | g.178630266T>A | CA349645256 | TTN | c.36552A>T (p.Lys12184Asn) c.17637A>T (p.Lys5879Asn) c.17436A>T (p.Lys5812Asn) c.17061A>T (p.Lys5687Asn) c.44256A>T (p.Lys14752Asn) c.39333A>T (p.Lys13111Asn) c.43353A>T (p.Lys14451Asn) c.17247A>T (p.Lys5749Asn) c.17106A>T (p.Lys5702Asn) c.43149A>T (p.Lys14383Asn) c.38547A>T (p.Lys12849Asn) c.38544A>T (p.Lys12848Asn) c.35586A>T (p.Lys11862Asn) c.17202A>T (p.Lys5734Asn) c.38697A>T (p.Lys12899Asn) c.38694A>T (p.Lys12898Asn) c.38127A>T (p.Lys12709Asn) c.35469A>T (p.Lys11823Asn) c.35388A>T (p.Lys11796Asn) c.17151A>T (p.Lys5717Asn) c.7005A>T (p.Lys2335Asn) | |
| 2 | g.178630266T>C | CA430113454 | TTN | c.36552A>G (p.Lys12184=) c.17637A>G (p.Lys5879=) c.17436A>G (p.Lys5812=) c.17061A>G (p.Lys5687=) c.44256A>G (p.Lys14752=) c.39333A>G (p.Lys13111=) c.43353A>G (p.Lys14451=) c.17247A>G (p.Lys5749=) c.17106A>G (p.Lys5702=) c.43149A>G (p.Lys14383=) c.38547A>G (p.Lys12849=) c.38544A>G (p.Lys12848=) c.35586A>G (p.Lys11862=) c.17202A>G (p.Lys5734=) c.38697A>G (p.Lys12899=) c.38694A>G (p.Lys12898=) c.38127A>G (p.Lys12709=) c.35469A>G (p.Lys11823=) c.35388A>G (p.Lys11796=) c.17151A>G (p.Lys5717=) c.7005A>G (p.Lys2335=) | gnomAD v4 |
| 2 | g.178630266T>G | CA349645259 | TTN | c.36552A>C (p.Lys12184Asn) c.17637A>C (p.Lys5879Asn) c.17436A>C (p.Lys5812Asn) c.17061A>C (p.Lys5687Asn) c.44256A>C (p.Lys14752Asn) c.39333A>C (p.Lys13111Asn) c.43353A>C (p.Lys14451Asn) c.17247A>C (p.Lys5749Asn) c.17106A>C (p.Lys5702Asn) c.43149A>C (p.Lys14383Asn) c.38547A>C (p.Lys12849Asn) c.38544A>C (p.Lys12848Asn) c.35586A>C (p.Lys11862Asn) c.17202A>C (p.Lys5734Asn) c.38697A>C (p.Lys12899Asn) c.38694A>C (p.Lys12898Asn) c.38127A>C (p.Lys12709Asn) c.35469A>C (p.Lys11823Asn) c.35388A>C (p.Lys11796Asn) c.17151A>C (p.Lys5717Asn) c.7005A>C (p.Lys2335Asn) | |
| 2 | g.178630267T>A | CA349645262 | TTN | c.36551A>T (p.Lys12184Ile) c.17636A>T (p.Lys5879Ile) c.17435A>T (p.Lys5812Ile) c.17060A>T (p.Lys5687Ile) c.44255A>T (p.Lys14752Ile) c.39332A>T (p.Lys13111Ile) c.43352A>T (p.Lys14451Ile) c.17246A>T (p.Lys5749Ile) c.17105A>T (p.Lys5702Ile) c.43148A>T (p.Lys14383Ile) c.38546A>T (p.Lys12849Ile) c.38543A>T (p.Lys12848Ile) c.35585A>T (p.Lys11862Ile) c.17201A>T (p.Lys5734Ile) c.38696A>T (p.Lys12899Ile) c.38693A>T (p.Lys12898Ile) c.38126A>T (p.Lys12709Ile) c.35468A>T (p.Lys11823Ile) c.35387A>T (p.Lys11796Ile) c.17150A>T (p.Lys5717Ile) c.7004A>T (p.Lys2335Ile) | |
| 2 | g.178630267T>C | CA349645265 | TTN | c.36551A>G (p.Lys12184Arg) c.17636A>G (p.Lys5879Arg) c.17435A>G (p.Lys5812Arg) c.17060A>G (p.Lys5687Arg) c.44255A>G (p.Lys14752Arg) c.39332A>G (p.Lys13111Arg) c.43352A>G (p.Lys14451Arg) c.17246A>G (p.Lys5749Arg) c.17105A>G (p.Lys5702Arg) c.43148A>G (p.Lys14383Arg) c.38546A>G (p.Lys12849Arg) c.38543A>G (p.Lys12848Arg) c.35585A>G (p.Lys11862Arg) c.17201A>G (p.Lys5734Arg) c.38696A>G (p.Lys12899Arg) c.38693A>G (p.Lys12898Arg) c.38126A>G (p.Lys12709Arg) c.35468A>G (p.Lys11823Arg) c.35387A>G (p.Lys11796Arg) c.17150A>G (p.Lys5717Arg) c.7004A>G (p.Lys2335Arg) | |
| 2 | g.178630267T>G | CA349645267 | TTN | c.36551A>C (p.Lys12184Thr) c.17636A>C (p.Lys5879Thr) c.17435A>C (p.Lys5812Thr) c.17060A>C (p.Lys5687Thr) c.44255A>C (p.Lys14752Thr) c.39332A>C (p.Lys13111Thr) c.43352A>C (p.Lys14451Thr) c.17246A>C (p.Lys5749Thr) c.17105A>C (p.Lys5702Thr) c.43148A>C (p.Lys14383Thr) c.38546A>C (p.Lys12849Thr) c.38543A>C (p.Lys12848Thr) c.35585A>C (p.Lys11862Thr) c.17201A>C (p.Lys5734Thr) c.38696A>C (p.Lys12899Thr) c.38693A>C (p.Lys12898Thr) c.38126A>C (p.Lys12709Thr) c.35468A>C (p.Lys11823Thr) c.35387A>C (p.Lys11796Thr) c.17150A>C (p.Lys5717Thr) c.7004A>C (p.Lys2335Thr) |