Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178785898_178785901delinsCAGACA1310621630TTNc.2317_2320delinsTCTG (p.Ser773=)
c.2179_2182delinsTCTG (p.Ser727=)
c.2365_2368delinsTCTG (p.Ser789=)
c.2224_2227delinsTCTG (p.Ser742=)
c.2362_2365delinsTCTG (p.Ser788=)
c.2320_2323delinsTCTG (p.Ser774=)
2g.178785899A>CCA430282733TTNc.2319T>G (p.Ser773=)
c.2181T>G (p.Ser727=)
c.2367T>G (p.Ser789=)
c.2226T>G (p.Ser742=)
c.2364T>G (p.Ser788=)
c.2322T>G (p.Ser774=)
2g.178785899A>GCA430282734TTNc.2319T>C (p.Ser773=)
c.2181T>C (p.Ser727=)
c.2367T>C (p.Ser789=)
c.2226T>C (p.Ser742=)
c.2364T>C (p.Ser788=)
c.2322T>C (p.Ser774=)
2g.178785899A>TCA430282735TTNc.2319T>A (p.Ser773=)
c.2181T>A (p.Ser727=)
c.2367T>A (p.Ser789=)
c.2226T>A (p.Ser742=)
c.2364T>A (p.Ser788=)
c.2322T>A (p.Ser774=)
2g.178785901_178785903delCA2005858TTNc.2317_2319del (p.Ser773del)
c.2179_2181del (p.Ser727del)
c.2365_2367del (p.Ser789del)
c.2224_2226del (p.Ser742del)
c.2362_2364del (p.Ser788del)
c.2320_2322del (p.Ser774del)
 dbSNP ExAC gnomAD v2
2g.178785900G>ACA2005859TTNc.2318C>T (p.Ser773Phe)
c.2180C>T (p.Ser727Phe)
c.2366C>T (p.Ser789Phe)
c.2225C>T (p.Ser742Phe)
c.2363C>T (p.Ser788Phe)
c.2321C>T (p.Ser774Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178785900G>CCA349499991TTNc.2318C>G (p.Ser773Cys)
c.2180C>G (p.Ser727Cys)
c.2366C>G (p.Ser789Cys)
c.2225C>G (p.Ser742Cys)
c.2363C>G (p.Ser788Cys)
c.2321C>G (p.Ser774Cys)
2g.178785900G=CA1310621632TTNc.2318C= (p.Ser773=)
c.2180C= (p.Ser727=)
c.2366C= (p.Ser789=)
c.2225C= (p.Ser742=)
c.2363C= (p.Ser788=)
c.2321C= (p.Ser774=)
2g.178785900G>TCA349499992TTNc.2318C>A (p.Ser773Tyr)
c.2180C>A (p.Ser727Tyr)
c.2366C>A (p.Ser789Tyr)
c.2225C>A (p.Ser742Tyr)
c.2363C>A (p.Ser788Tyr)
c.2321C>A (p.Ser774Tyr)
2g.178785901A=CA1310621633TTNc.2317T= (p.Ser773=)
c.2179T= (p.Ser727=)
c.2365T= (p.Ser789=)
c.2224T= (p.Ser742=)
c.2362T= (p.Ser788=)
c.2320T= (p.Ser774=)
2g.178785901A>CCA349499995TTNc.2317T>G (p.Ser773Ala)
c.2179T>G (p.Ser727Ala)
c.2365T>G (p.Ser789Ala)
c.2224T>G (p.Ser742Ala)
c.2362T>G (p.Ser788Ala)
c.2320T>G (p.Ser774Ala)
2g.178785901A>GCA349499997TTNc.2317T>C (p.Ser773Pro)
c.2179T>C (p.Ser727Pro)
c.2365T>C (p.Ser789Pro)
c.2224T>C (p.Ser742Pro)
c.2362T>C (p.Ser788Pro)
c.2320T>C (p.Ser774Pro)
 dbSNP gnomAD v4
2g.178785901A>TCA349500008TTNc.2317T>A (p.Ser773Thr)
c.2179T>A (p.Ser727Thr)
c.2365T>A (p.Ser789Thr)
c.2224T>A (p.Ser742Thr)
c.2362T>A (p.Ser788Thr)
c.2320T>A (p.Ser774Thr)
2g.178785902A>CCA430282738TTNc.2316T>G (p.Pro772=)
c.2178T>G (p.Pro726=)
c.2364T>G (p.Pro788=)
c.2223T>G (p.Pro741=)
c.2361T>G (p.Pro787=)
c.2319T>G (p.Pro773=)
2g.178785902A>GCA430282736TTNc.2316T>C (p.Pro772=)
c.2178T>C (p.Pro726=)
c.2364T>C (p.Pro788=)
c.2223T>C (p.Pro741=)
c.2361T>C (p.Pro787=)
c.2319T>C (p.Pro773=)
2g.178785902A>TCA430282737TTNc.2316T>A (p.Pro772=)
c.2178T>A (p.Pro726=)
c.2364T>A (p.Pro788=)
c.2223T>A (p.Pro741=)
c.2361T>A (p.Pro787=)
c.2319T>A (p.Pro773=)
2g.178785903G>ACA349500011TTNc.2315C>T (p.Pro772Leu)
c.2177C>T (p.Pro726Leu)
c.2363C>T (p.Pro788Leu)
c.2222C>T (p.Pro741Leu)
c.2360C>T (p.Pro787Leu)
c.2318C>T (p.Pro773Leu)
2g.178785903G>CCA349500034TTNc.2315C>G (p.Pro772Arg)
c.2177C>G (p.Pro726Arg)
c.2363C>G (p.Pro788Arg)
c.2222C>G (p.Pro741Arg)
c.2360C>G (p.Pro787Arg)
c.2318C>G (p.Pro773Arg)
2g.178785903G>TCA349500041TTNc.2315C>A (p.Pro772His)
c.2177C>A (p.Pro726His)
c.2363C>A (p.Pro788His)
c.2222C>A (p.Pro741His)
c.2360C>A (p.Pro787His)
c.2318C>A (p.Pro773His)
2g.178785904G>ACA2005860TTNc.2314C>T (p.Pro772Ser)
c.2176C>T (p.Pro726Ser)
c.2362C>T (p.Pro788Ser)
c.2221C>T (p.Pro741Ser)
c.2359C>T (p.Pro787Ser)
c.2317C>T (p.Pro773Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178785904G>CCA349500053TTNc.2314C>G (p.Pro772Ala)
c.2176C>G (p.Pro726Ala)
c.2362C>G (p.Pro788Ala)
c.2221C>G (p.Pro741Ala)
c.2359C>G (p.Pro787Ala)
c.2317C>G (p.Pro773Ala)
2g.178785904G=CA1310621634TTNc.2314C= (p.Pro772=)
c.2176C= (p.Pro726=)
c.2362C= (p.Pro788=)
c.2221C= (p.Pro741=)
c.2359C= (p.Pro787=)
c.2317C= (p.Pro773=)
2g.178785904G>TCA349500057TTNc.2314C>A (p.Pro772Thr)
c.2176C>A (p.Pro726Thr)
c.2362C>A (p.Pro788Thr)
c.2221C>A (p.Pro741Thr)
c.2359C>A (p.Pro787Thr)
c.2317C>A (p.Pro773Thr)
2g.178785905A=CA1310621635TTNc.2313T= (p.Ala771=)
c.2175T= (p.Ala725=)
c.2361T= (p.Ala787=)
c.2220T= (p.Ala740=)
c.2358T= (p.Ala786=)
c.2316T= (p.Ala772=)
2g.178785905A>CCA430282739TTNc.2313T>G (p.Ala771=)
c.2175T>G (p.Ala725=)
c.2361T>G (p.Ala787=)
c.2220T>G (p.Ala740=)
c.2358T>G (p.Ala786=)
c.2316T>G (p.Ala772=)
 dbSNP
2g.178785905A>GCA430282742TTNc.2313T>C (p.Ala771=)
c.2175T>C (p.Ala725=)
c.2361T>C (p.Ala787=)
c.2220T>C (p.Ala740=)
c.2358T>C (p.Ala786=)
c.2316T>C (p.Ala772=)
 gnomAD v4
2g.178785905A>TCA430282741TTNc.2313T>A (p.Ala771=)
c.2175T>A (p.Ala725=)
c.2361T>A (p.Ala787=)
c.2220T>A (p.Ala740=)
c.2358T>A (p.Ala786=)
c.2316T>A (p.Ala772=)
2g.178785906G>ACA349500076TTNc.2312C>T (p.Ala771Val)
c.2174C>T (p.Ala725Val)
c.2360C>T (p.Ala787Val)
c.2219C>T (p.Ala740Val)
c.2357C>T (p.Ala786Val)
c.2315C>T (p.Ala772Val)
2g.178785906G>CCA349500062TTNc.2312C>G (p.Ala771Gly)
c.2174C>G (p.Ala725Gly)
c.2360C>G (p.Ala787Gly)
c.2219C>G (p.Ala740Gly)
c.2357C>G (p.Ala786Gly)
c.2315C>G (p.Ala772Gly)
 dbSNP
2g.178785906G=CA1310621636TTNc.2312C= (p.Ala771=)
c.2174C= (p.Ala725=)
c.2360C= (p.Ala787=)
c.2219C= (p.Ala740=)
c.2357C= (p.Ala786=)
c.2315C= (p.Ala772=)
2g.178785906G>TCA349500073TTNc.2312C>A (p.Ala771Asp)
c.2174C>A (p.Ala725Asp)
c.2360C>A (p.Ala787Asp)
c.2219C>A (p.Ala740Asp)
c.2357C>A (p.Ala786Asp)
c.2315C>A (p.Ala772Asp)
2g.178785907C>ACA60982748TTNc.2311G>T (p.Ala771Ser)
c.2173G>T (p.Ala725Ser)
c.2359G>T (p.Ala787Ser)
c.2218G>T (p.Ala740Ser)
c.2356G>T (p.Ala786Ser)
c.2314G>T (p.Ala772Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.178785907C=CA1310621637TTNc.2311G= (p.Ala771=)
c.2173G= (p.Ala725=)
c.2359G= (p.Ala787=)
c.2218G= (p.Ala740=)
c.2356G= (p.Ala786=)
c.2314G= (p.Ala772=)
2g.178785907C>GCA60982749TTNc.2311G>C (p.Ala771Pro)
c.2173G>C (p.Ala725Pro)
c.2359G>C (p.Ala787Pro)
c.2218G>C (p.Ala740Pro)
c.2356G>C (p.Ala786Pro)
c.2314G>C (p.Ala772Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.178785907C>TCA349500088TTNc.2311G>A (p.Ala771Thr)
c.2173G>A (p.Ala725Thr)
c.2359G>A (p.Ala787Thr)
c.2218G>A (p.Ala740Thr)
c.2356G>A (p.Ala786Thr)
c.2314G>A (p.Ala772Thr)
 gnomAD v4
2g.178785908C>ACA310244TTNc.2310G>T (p.Gln770His)
c.2172G>T (p.Gln724His)
c.2358G>T (p.Gln786His)
c.2217G>T (p.Gln739His)
c.2355G>T (p.Gln785His)
c.2313G>T (p.Gln771His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178785908C=CA1310621638TTNc.2310G= (p.Gln770=)
c.2172G= (p.Gln724=)
c.2358G= (p.Gln786=)
c.2217G= (p.Gln739=)
c.2355G= (p.Gln785=)
c.2313G= (p.Gln771=)
2g.178785908C>GCA349500098TTNc.2310G>C (p.Gln770His)
c.2172G>C (p.Gln724His)
c.2358G>C (p.Gln786His)
c.2217G>C (p.Gln739His)
c.2355G>C (p.Gln785His)
c.2313G>C (p.Gln771His)
 dbSNP gnomAD v4
2g.178785908C>TCA430282743TTNc.2310G>A (p.Gln770=)
c.2172G>A (p.Gln724=)
c.2358G>A (p.Gln786=)
c.2217G>A (p.Gln739=)
c.2355G>A (p.Gln785=)
c.2313G>A (p.Gln771=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178785909T>ACA349500104TTNc.2309A>T (p.Gln770Leu)
c.2171A>T (p.Gln724Leu)
c.2357A>T (p.Gln786Leu)
c.2216A>T (p.Gln739Leu)
c.2354A>T (p.Gln785Leu)
c.2312A>T (p.Gln771Leu)
2g.178785909T>CCA349500107TTNc.2309A>G (p.Gln770Arg)
c.2171A>G (p.Gln724Arg)
c.2357A>G (p.Gln786Arg)
c.2216A>G (p.Gln739Arg)
c.2354A>G (p.Gln785Arg)
c.2312A>G (p.Gln771Arg)
 dbSNP
2g.178785909T>GCA349500111TTNc.2309A>C (p.Gln770Pro)
c.2171A>C (p.Gln724Pro)
c.2357A>C (p.Gln786Pro)
c.2216A>C (p.Gln739Pro)
c.2354A>C (p.Gln785Pro)
c.2312A>C (p.Gln771Pro)
2g.178785909T=CA1310621639TTNc.2309A= (p.Gln770=)
c.2171A= (p.Gln724=)
c.2357A= (p.Gln786=)
c.2216A= (p.Gln739=)
c.2354A= (p.Gln785=)
c.2312A= (p.Gln771=)
2g.178785910G>ACA349500117TTNc.2308C>T (p.Gln770Ter)
c.2170C>T (p.Gln724Ter)
c.2356C>T (p.Gln786Ter)
c.2215C>T (p.Gln739Ter)
c.2353C>T (p.Gln785Ter)
c.2311C>T (p.Gln771Ter)
2g.178785910G>CCA349500134TTNc.2308C>G (p.Gln770Glu)
c.2170C>G (p.Gln724Glu)
c.2356C>G (p.Gln786Glu)
c.2215C>G (p.Gln739Glu)
c.2353C>G (p.Gln785Glu)
c.2311C>G (p.Gln771Glu)
 COSMIC COSMIC COSMIC COSMIC COSMIC
2g.178785910G=CA1310621640TTNc.2308C= (p.Gln770=)
c.2170C= (p.Gln724=)
c.2356C= (p.Gln786=)
c.2215C= (p.Gln739=)
c.2353C= (p.Gln785=)
c.2311C= (p.Gln771=)
2g.178785910G>TCA349500136TTNc.2308C>A (p.Gln770Lys)
c.2170C>A (p.Gln724Lys)
c.2356C>A (p.Gln786Lys)
c.2215C>A (p.Gln739Lys)
c.2353C>A (p.Gln785Lys)
c.2311C>A (p.Gln771Lys)
2g.178785911G>ACA60982750TTNc.2307C>T (p.Ile769=)
c.2169C>T (p.Ile723=)
c.2355C>T (p.Ile785=)
c.2214C>T (p.Ile738=)
c.2352C>T (p.Ile784=)
c.2310C>T (p.Ile770=)
 dbSNP
2g.178785911G>CCA349500139TTNc.2307C>G (p.Ile769Met)
c.2169C>G (p.Ile723Met)
c.2355C>G (p.Ile785Met)
c.2214C>G (p.Ile738Met)
c.2352C>G (p.Ile784Met)
c.2310C>G (p.Ile770Met)
2g.178785911G=CA1310621641TTNc.2307C= (p.Ile769=)
c.2169C= (p.Ile723=)
c.2355C= (p.Ile785=)
c.2214C= (p.Ile738=)
c.2352C= (p.Ile784=)
c.2310C= (p.Ile770=)

Number of alleles fetched